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ADDRESS (Annotated Database of Disease-RElated Sequences and Structures) maps disease-associated/benign mutations from HUMSAVAR to residues on PDB structures. It also performs and integrates structural analysis of mutations, including contact numbers and prediction of free-energy changes upon mutations (ΔΔG) by EvoEF and FoldX. The ADDRESS database can be used for hypothesis assessment and benchmarking of disease-associated prediction algorithms.

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# UniProt accession
(Gene in neXtProt)		 Wild type amino acid Mutant amino acid Residue index in UniProt dbSNP Disease association [OMIM ID]
25001 P32302 (CXCR5) G S 344 rs665648 Benign
25002 P32320 (CDA) K Q 27 rs2072671 Benign
25003 P32322 (PYCR1) R G 119 rs121918376 Disease: Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
25004 P32322 (PYCR1) R H 119 rs121918377 Disease: Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
25005 P32322 (PYCR1) A T 179 rs139751598 Disease: Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
25006 P32322 (PYCR1) A V 189 - Benign
25007 P32322 (PYCR1) G R 206 rs121918375 Disease: Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
25008 P32322 (PYCR1) G W 206 rs121918375 Disease: Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
25009 P32322 (PYCR1) G E 248 rs281875319 Disease: Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438]
25010 P32322 (PYCR1) R H 251 rs121918378 Disease: Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438]
25011 P32322 (PYCR1) A T 257 rs281875318 Disease: Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438]
25012 P32322 (PYCR1) R Q 266 rs121918374 Disease: Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
25013 P32322 (PYCR1) G R 297 - Benign
25014 P32418 (SLC8A1) E V 692 rs5557 Benign
25015 P32455 (GBP1) I V 78 rs1048401 Benign
25016 P32455 (GBP1) E D 166 rs17130717 Benign
25017 P32455 (GBP1) T S 349 rs1048425 Benign
25018 P32455 (GBP1) A G 409 rs1048443 Benign
25019 P32456 (GBP2) S P 281 rs2230336 Benign
25020 P32456 (GBP2) P A 285 rs1803632 Benign
25021 P32456 (GBP2) S G 303 rs2230338 Benign
25022 P32519 (ELF1) N S 58 rs7799 Benign
25023 P32519 (ELF1) T S 343 rs1056820 Benign
25024 P32519 (ELF1) T I 403 rs7323148 Benign
25025 P32745 (SSTR3) A V 33 rs4988466 Benign
25026 P32745 (SSTR3) P L 37 rs34943557 Benign
25027 P32745 (SSTR3) S F 251 rs6413537 Benign
25028 P32745 (SSTR3) R C 336 rs4988469 Benign
25029 P32745 (SSTR3) S T 411 rs229568 Benign
25030 P32745 (SSTR3) R H 414 rs4988471 Benign
25031 P32754 (HPD) A T 33 rs1154510 Benign
25032 P32754 (HPD) R Q 113 rs11833399 Benign
25033 P32754 (HPD) Y C 160 rs137852865 Disease: Tyrosinemia 3 (TYRSN3) [MIM:276710]
25034 P32754 (HPD) I F 267 - Benign
25035 P32754 (HPD) A V 268 - Disease: Tyrosinemia 3 (TYRSN3) [MIM:276710]
25036 P32754 (HPD) I M 335 - Disease: Tyrosinemia 3 (TYRSN3) [MIM:276710]
25037 P32754 (HPD) V L 340 rs36023382 Benign
25038 P32780 (GTF2H1) R W 234 rs4150603 Benign
25039 P32780 (GTF2H1) S F 285 rs4150636 Benign
25040 P32780 (GTF2H1) L V 517 rs4150665 Benign
25041 P32856 (STX2) S T 42 rs17564 Benign
25042 P32856 (STX2) K R 54 rs7301926 Benign
25043 P32881 (IFNA8) E K 137 rs3739630 Benign
25044 P32926 (DSG3) V M 509 rs16961975 Benign
25045 P32926 (DSG3) T A 912 rs1380866 Benign
25046 P32927 (CSF2RB) E Q 249 rs16845 Benign
25047 P32927 (CSF2RB) P T 603 rs1801122 Benign
25048 P32927 (CSF2RB) G V 647 rs1801115 Benign
25049 P32927 (CSF2RB) V M 652 rs1801114 Benign
25050 P32927 (CSF2RB) P S 696 rs16997517 Benign
25051 P32929 (CTH) T I 67 rs28941785 Disease: Cystathionin uria (CSTNU) [MIM:219500]
25052 P32929 (CTH) Q E 240 rs28941786 Disease: Cystathionin uria (CSTNU) [MIM:219500]
25053 P32929 (CTH) S I 403 rs1021737 Benign
25054 P32942 (ICAM3) I V 63 rs17697947 Benign
25055 P32942 (ICAM3) R G 115 rs7258015 Benign
25056 P32942 (ICAM3) D G 143 rs2304237 Benign
25057 P32942 (ICAM3) S T 525 rs2230399 Benign
25058 P33032 (MC5R) F L 209 rs2236700 Benign
25059 P33076 (CIITA) L V 45 rs2229317 Benign
25060 P33076 (CIITA) R G 174 rs8046121 Benign
25061 P33076 (CIITA) L P 469 - Disease: Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
25062 P33076 (CIITA) G A 500 rs4774 Benign
25063 P33076 (CIITA) A G 658 rs2229319 Benign
25064 P33076 (CIITA) S L 781 rs13330686 Benign
25065 P33076 (CIITA) V A 782 rs13336804 Benign
25066 P33076 (CIITA) Q R 900 rs7197779 Benign
25067 P33076 (CIITA) F S 962 - Disease: Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
25068 P33151 (CDH5) I T 503 rs16956504 Benign
25069 P33151 (CDH5) I T 517 rs1049970 Benign
25070 P33241 (LSP1) A T 100 rs621679 Benign
25071 P33241 (LSP1) Q L 108 rs11545725 Benign
25072 P33241 (LSP1) Q K 229 rs1803928 Benign
25073 P33260 (CYP2C18) T M 385 rs1126545 Benign
25074 P33261 (CYP2C19) L P 17 rs55752064 Benign
25075 P33261 (CYP2C19) I L 19 rs17882687 Benign
25076 P33261 (CYP2C19) S G 51 - Benign
25077 P33261 (CYP2C19) M T 74 rs28399505 Benign
25078 P33261 (CYP2C19) E D 92 rs17878459 Benign
25079 P33261 (CYP2C19) W R 120 rs41291556 Benign
25080 P33261 (CYP2C19) E A 122 rs17885179 Benign
25081 P33261 (CYP2C19) R Q 132 rs72552267 Benign
25082 P33261 (CYP2C19) R H 144 rs17884712 Benign
25083 P33261 (CYP2C19) R H 150 rs58973490 Benign
25084 P33261 (CYP2C19) A P 161 rs181297724 Benign
25085 P33261 (CYP2C19) F L 168 rs28399510 Benign
25086 P33261 (CYP2C19) P L 227 rs6413438 Benign
25087 P33261 (CYP2C19) R H 329 rs138142612 Benign
25088 P33261 (CYP2C19) V I 331 rs3758581 Benign
25089 P33261 (CYP2C19) R C 410 rs17879685 Benign
25090 P33261 (CYP2C19) R W 433 rs56337013 Benign
25091 P33261 (CYP2C19) R C 442 rs192154563 Benign
25092 P33316 (DUT) P S 100 rs28381104 Benign
25093 P33527 (ABCC1) C S 43 rs41395947 Benign
25094 P33527 (ABCC1) T I 73 rs41494447 Benign
25095 P33527 (ABCC1) M T 117 - Benign
25096 P33527 (ABCC1) R S 433 rs60782127 Benign
25097 P33527 (ABCC1) R Q 633 rs112282109 Benign
25098 P33527 (ABCC1) G V 671 rs45511401 Benign
25099 P33527 (ABCC1) R Q 723 rs4148356 Benign
25100 P33527 (ABCC1) A T 861 rs45517537 Benign
25101 P33527 (ABCC1) C S 1047 rs13337489 Benign
25102 P33527 (ABCC1) R Q 1058 rs41410450 Benign
25103 P33527 (ABCC1) V I 1146 rs28706727 Benign
25104 P33527 (ABCC1) S L 1512 rs369410659 Benign
25105 P33763 (S100A5) D G 54 rs3795393 Benign
25106 P33764 (S100A3) R K 3 rs36022742 Benign
25107 P33897 (ABCD1) N T 13 rs183021839 Benign
25108 P33897 (ABCD1) C W 88 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25109 P33897 (ABCD1) E K 90 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25110 P33897 (ABCD1) A D 95 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25111 P33897 (ABCD1) S L 98 rs1557052294 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25112 P33897 (ABCD1) A D 99 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25113 P33897 (ABCD1) S R 103 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25114 P33897 (ABCD1) R C 104 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25115 P33897 (ABCD1) R H 104 rs1557052302 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25116 P33897 (ABCD1) T I 105 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25117 P33897 (ABCD1) T P 105 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25118 P33897 (ABCD1) L P 107 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25119 P33897 (ABCD1) S L 108 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25120 P33897 (ABCD1) S W 108 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25121 P33897 (ABCD1) R C 113 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25122 P33897 (ABCD1) R P 113 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25123 P33897 (ABCD1) G R 116 rs398123110 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25124 P33897 (ABCD1) A T 141 rs193922097 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25125 P33897 (ABCD1) P S 143 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25126 P33897 (ABCD1) N S 148 rs128624216 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25127 P33897 (ABCD1) S N 149 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25128 P33897 (ABCD1) R C 152 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25129 P33897 (ABCD1) R L 152 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25130 P33897 (ABCD1) R P 152 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25131 P33897 (ABCD1) R S 152 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25132 P33897 (ABCD1) S P 161 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25133 P33897 (ABCD1) R H 163 rs1057517954 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25134 P33897 (ABCD1) R P 163 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25135 P33897 (ABCD1) Y C 174 rs1557052390 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25136 P33897 (ABCD1) Y D 174 rs128624217 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25137 P33897 (ABCD1) Y S 174 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25138 P33897 (ABCD1) Q E 178 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25139 P33897 (ABCD1) Y C 181 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25140 P33897 (ABCD1) R P 182 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25141 P33897 (ABCD1) R W 189 rs1131691916 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25142 P33897 (ABCD1) L P 190 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25143 P33897 (ABCD1) D H 194 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25144 P33897 (ABCD1) T K 198 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25145 P33897 (ABCD1) T R 198 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25146 P33897 (ABCD1) D N 200 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25147 P33897 (ABCD1) D V 200 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25148 P33897 (ABCD1) L P 211 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25149 P33897 (ABCD1) S C 213 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25150 P33897 (ABCD1) N D 214 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25151 P33897 (ABCD1) K E 217 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25152 P33897 (ABCD1) P T 218 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25153 P33897 (ABCD1) L P 220 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25154 P33897 (ABCD1) D G 221 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25155 P33897 (ABCD1) V E 224 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25156 P33897 (ABCD1) L P 229 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25157 P33897 (ABCD1) T M 254 rs1131691743 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25158 P33897 (ABCD1) T P 254 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25159 P33897 (ABCD1) P L 263 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25160 P33897 (ABCD1) G E 266 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25161 P33897 (ABCD1) G R 266 rs128624218 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25162 P33897 (ABCD1) E K 271 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25163 P33897 (ABCD1) R W 274 rs782760033 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25164 P33897 (ABCD1) K E 276 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25165 P33897 (ABCD1) G R 277 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25166 P33897 (ABCD1) G W 277 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25167 P33897 (ABCD1) R C 280 rs193922098 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25168 P33897 (ABCD1) R P 285 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25169 P33897 (ABCD1) E D 291 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25170 P33897 (ABCD1) E K 291 rs128624213 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25171 P33897 (ABCD1) A T 294 rs1131691954 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25172 P33897 (ABCD1) Y C 296 rs797044610 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25173 P33897 (ABCD1) G D 298 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25174 P33897 (ABCD1) E K 302 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25175 P33897 (ABCD1) Q P 316 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25176 P33897 (ABCD1) L P 322 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25177 P33897 (ABCD1) K M 336 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25178 P33897 (ABCD1) W R 339 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25179 P33897 (ABCD1) S P 342 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25180 P33897 (ABCD1) G D 343 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25181 P33897 (ABCD1) G S 343 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25182 P33897 (ABCD1) R G 389 rs128624215 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25183 P33897 (ABCD1) R H 389 rs886044777 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25184 P33897 (ABCD1) R Q 401 rs128624219 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25185 P33897 (ABCD1) R W 401 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25186 P33897 (ABCD1) R W 418 rs128624220 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25187 P33897 (ABCD1) P R 484 rs128624214 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25188 P33897 (ABCD1) L P 503 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25189 P33897 (ABCD1) G V 507 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25190 P33897 (ABCD1) G S 512 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25191 P33897 (ABCD1) S R 514 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25192 P33897 (ABCD1) S F 515 rs128624223 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25193 P33897 (ABCD1) L P 516 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25194 P33897 (ABCD1) R Q 518 rs398123102 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25195 P33897 (ABCD1) R W 518 rs128624224 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25196 P33897 (ABCD1) G W 522 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25197 P33897 (ABCD1) L F 523 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25198 P33897 (ABCD1) G S 529 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25199 P33897 (ABCD1) P L 534 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25200 P33897 (ABCD1) F C 540 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25201 P33897 (ABCD1) F S 540 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25202 P33897 (ABCD1) P L 543 rs1557054776 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25203 P33897 (ABCD1) Q R 544 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25204 P33897 (ABCD1) S P 552 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25205 P33897 (ABCD1) R H 554 rs201568579 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25206 P33897 (ABCD1) Q R 556 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25207 P33897 (ABCD1) P L 560 rs398123105 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25208 P33897 (ABCD1) P R 560 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25209 P33897 (ABCD1) P S 560 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25210 P33897 (ABCD1) M K 566 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25211 P33897 (ABCD1) R P 591 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25212 P33897 (ABCD1) R Q 591 rs1557054873 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25213 P33897 (ABCD1) R W 591 rs398123106 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25214 P33897 (ABCD1) S L 606 rs128624225 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25215 P33897 (ABCD1) S P 606 rs201774661 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25216 P33897 (ABCD1) G D 608 rs78993751 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25217 P33897 (ABCD1) E G 609 rs1557055260 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25218 P33897 (ABCD1) E K 609 rs150346282 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25219 P33897 (ABCD1) A V 616 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25220 P33897 (ABCD1) R C 617 rs4010613 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25221 P33897 (ABCD1) R G 617 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25222 P33897 (ABCD1) R H 617 rs11146842 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25223 P33897 (ABCD1) A D 626 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25224 P33897 (ABCD1) A T 626 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25225 P33897 (ABCD1) D H 629 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25226 P33897 (ABCD1) E G 630 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25227 P33897 (ABCD1) C Y 631 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25228 P33897 (ABCD1) T I 632 rs1064793877 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25229 P33897 (ABCD1) T P 632 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25230 P33897 (ABCD1) S I 633 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25231 P33897 (ABCD1) S R 633 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25232 P33897 (ABCD1) V M 635 rs201427153 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25233 P33897 (ABCD1) S I 636 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25234 P33897 (ABCD1) D Y 638 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25235 P33897 (ABCD1) E K 640 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25236 P33897 (ABCD1) A P 646 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25237 P33897 (ABCD1) L P 654 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25238 P33897 (ABCD1) R P 660 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25239 P33897 (ABCD1) R Q 660 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25240 P33897 (ABCD1) R W 660 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25241 P33897 (ABCD1) H D 667 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25242 P33897 (ABCD1) T I 668 rs1557055398 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25243 P33897 (ABCD1) G D 677 - Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25244 P33897 (ABCD1) W R 679 rs1557055405 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25245 P33897 (ABCD1) T M 693 rs782311214 Disease: Adrenoleukod ystrophy (ALD) [MIM:300100]
25246 P33908 (MAN1A1) R G 651 rs35544784 Benign
25247 P33981 (TTK) A V 97 rs2230513 Benign
25248 P33981 (TTK) D N 758 rs2230512 Benign
25249 P33991 (MCM4) E G 460 rs17287663 Benign
25250 P33991 (MCM4) L M 650 rs762679 Benign
25251 P33992 (MCM5) S T 136 rs2307334 Benign
25252 P33992 (MCM5) T S 180 rs2307340 Benign
25253 P33992 (MCM5) V I 258 rs2230933 Benign
25254 P33992 (MCM5) T I 466 rs1131692169 Disease: Meier-Gorlin syndrome 8 (MGORS8) [MIM:617564]
25255 P33993 (MCM7) R Q 114 rs2307348 Benign
25256 P33993 (MCM7) N S 144 rs2070215 Benign
25257 P33993 (MCM7) G S 473 rs2307347 Benign
25258 P34059 (GALNS) L M 15 rs866745731 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25259 P34059 (GALNS) V E 16 rs794729202 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25260 P34059 (GALNS) G R 23 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25261 P34059 (GALNS) L P 36 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25262 P34059 (GALNS) L R 36 rs755832705 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25263 P34059 (GALNS) D N 40 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25264 P34059 (GALNS) M L 41 rs1283377907 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25265 P34059 (GALNS) G E 42 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25266 P34059 (GALNS) G R 47 rs199638097 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25267 P34059 (GALNS) V G 48 rs191519947 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25268 P34059 (GALNS) E K 51 rs1296755011 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25269 P34059 (GALNS) S F 53 rs1421990673 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25270 P34059 (GALNS) D N 60 rs118204447 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25271 P34059 (GALNS) R W 61 rs145798311 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25272 P34059 (GALNS) L M 67 rs11862754 Benign
25273 P34059 (GALNS) F V 69 rs118204445 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25274 P34059 (GALNS) S F 74 - Benign
25275 P34059 (GALNS) P R 77 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25276 P34059 (GALNS) C Y 79 rs1263679818 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25277 P34059 (GALNS) S L 80 rs1209154325 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25278 P34059 (GALNS) P L 81 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25279 P34059 (GALNS) A E 84 rs141340188 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25280 P34059 (GALNS) R W 90 rs1028668536 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25281 P34059 (GALNS) L P 91 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25282 P34059 (GALNS) R C 94 rs118204441 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25283 P34059 (GALNS) R G 94 rs118204441 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25284 P34059 (GALNS) R L 94 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25285 P34059 (GALNS) G C 96 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25286 P34059 (GALNS) G V 96 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25287 P34059 (GALNS) F V 97 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25288 P34059 (GALNS) A T 107 rs763184657 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25289 P34059 (GALNS) Q R 111 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25290 P34059 (GALNS) I F 113 rs118204438 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25291 P34059 (GALNS) G S 116 rs1444754604 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25292 P34059 (GALNS) G V 116 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25293 P34059 (GALNS) E D 121 - Benign
25294 P34059 (GALNS) P L 125 rs746949976 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25295 P34059 (GALNS) S R 135 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25296 P34059 (GALNS) V A 138 rs118204436 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25297 P34059 (GALNS) G S 139 rs146093755 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25298 P34059 (GALNS) W C 141 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25299 P34059 (GALNS) W R 141 rs794727625 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25300 P34059 (GALNS) H Y 145 rs577334837 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25301 P34059 (GALNS) H Y 150 rs1168278189 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25302 P34059 (GALNS) P L 151 rs559063128 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25303 P34059 (GALNS) P S 151 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25304 P34059 (GALNS) G E 155 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25305 P34059 (GALNS) G R 155 rs398123438 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25306 P34059 (GALNS) F C 156 rs1301146300 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25307 P34059 (GALNS) F L 156 rs1308500116 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25308 P34059 (GALNS) F S 156 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25309 P34059 (GALNS) W C 159 - Benign
25310 P34059 (GALNS) S F 162 rs118204444 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25311 P34059 (GALNS) N T 164 rs761725425 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25312 P34059 (GALNS) C Y 165 rs768757999 Benign
25313 P34059 (GALNS) H Q 166 rs1301198698 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25314 P34059 (GALNS) H R 166 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25315 P34059 (GALNS) F V 167 rs148565559 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25316 P34059 (GALNS) G R 168 rs775732598 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25317 P34059 (GALNS) D A 171 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25318 P34059 (GALNS) I V 178 - Benign
25319 P34059 (GALNS) P H 179 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25320 P34059 (GALNS) P L 179 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25321 P34059 (GALNS) P S 179 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25322 P34059 (GALNS) E G 185 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25323 P34059 (GALNS) T M 200 rs7187889 Benign
25324 P34059 (GALNS) G E 201 rs772413313 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25325 P34059 (GALNS) A V 203 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25326 P34059 (GALNS) N K 204 rs118204435 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25327 P34059 (GALNS) L P 214 rs771810111 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25328 P34059 (GALNS) F S 216 rs747805226 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25329 P34059 (GALNS) W G 230 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25330 P34059 (GALNS) A G 231 rs34745339 Benign
25331 P34059 (GALNS) D N 233 rs753051547 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25332 P34059 (GALNS) T K 235 rs398123440 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25333 P34059 (GALNS) V F 239 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25334 P34059 (GALNS) G D 247 rs761385192 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25335 P34059 (GALNS) R Q 251 rs1199639828 Benign
25336 P34059 (GALNS) R W 253 rs775300515 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25337 P34059 (GALNS) Y C 254 - Benign
25338 P34059 (GALNS) A T 257 rs773283163 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25339 P34059 (GALNS) R Q 259 rs118204442 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25340 P34059 (GALNS) E K 260 - Benign
25341 P34059 (GALNS) E D 260 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25342 P34059 (GALNS) S T 264 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25343 P34059 (GALNS) F V 284 rs144067930 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25344 P34059 (GALNS) S L 287 rs770053354 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25345 P34059 (GALNS) G S 290 rs975409254 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25346 P34059 (GALNS) A D 291 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25347 P34059 (GALNS) A T 291 rs118204448 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25348 P34059 (GALNS) S F 295 rs149239881 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25349 P34059 (GALNS) G C 301 rs118204443 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25350 P34059 (GALNS) L P 307 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25351 P34059 (GALNS) G R 309 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25352 P34059 (GALNS) K N 310 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25353 P34059 (GALNS) T S 312 rs118204446 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25354 P34059 (GALNS) M R 318 rs746756997 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25355 P34059 (GALNS) W C 325 rs1269110043 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25356 P34059 (GALNS) G D 340 rs267606838 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25357 P34059 (GALNS) S R 341 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25358 P34059 (GALNS) M R 343 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25359 P34059 (GALNS) D E 344 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25360 P34059 (GALNS) D N 344 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25361 P34059 (GALNS) L P 345 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25362 P34059 (GALNS) F L 346 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25363 P34059 (GALNS) A V 351 rs761386453 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25364 P34059 (GALNS) L P 352 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25365 P34059 (GALNS) P L 357 rs769748679 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25366 P34059 (GALNS) R G 361 rs778120439 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25367 P34059 (GALNS) L P 369 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25368 P34059 (GALNS) R Q 376 rs150734270 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25369 P34059 (GALNS) R G 380 rs770908172 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25370 P34059 (GALNS) R S 380 rs200763834 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25371 P34059 (GALNS) R T 380 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25372 P34059 (GALNS) R C 386 rs118204437 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25373 P34059 (GALNS) R H 386 rs1221167717 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25374 P34059 (GALNS) D N 388 rs373739301 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25375 P34059 (GALNS) M V 391 rs398123429 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25376 P34059 (GALNS) A V 392 rs398123430 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25377 P34059 (GALNS) A S 393 rs2303269 Benign
25378 P34059 (GALNS) L P 395 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25379 P34059 (GALNS) L V 395 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25380 P34059 (GALNS) H D 398 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25381 P34059 (GALNS) H Y 401 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25382 P34059 (GALNS) N H 407 rs749578474 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25383 P34059 (GALNS) W S 409 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25384 P34059 (GALNS) G V 415 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25385 P34059 (GALNS) I T 416 rs142822371 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25386 P34059 (GALNS) P R 420 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25387 P34059 (GALNS) E V 450 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25388 P34059 (GALNS) F I 452 rs398123432 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25389 P34059 (GALNS) A V 459 rs114703967 Benign
25390 P34059 (GALNS) S P 470 - Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25391 P34059 (GALNS) P S 484 rs1204485789 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25392 P34059 (GALNS) N S 487 rs118204440 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25393 P34059 (GALNS) V M 488 rs78127134 Benign
25394 P34059 (GALNS) A T 492 rs760300454 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25395 P34059 (GALNS) M V 494 rs1401175486 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25396 P34059 (GALNS) N K 495 rs886039377 Benign
25397 P34059 (GALNS) G S 500 rs1303492021 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25398 P34059 (GALNS) C F 507 rs398123433 Disease: Mucopolysacc haridosis 4A (MPS4A) [MIM:253000]
25399 P34096 (RNASE4) T S 16 rs3748338 Benign
25400 P34130 (NTF4) A V 88 rs61732310 Benign
25401 P34130 (NTF4) S N 89 rs374367338 Benign
25402 P34130 (NTF4) R C 90 rs751743400 Benign
25403 P34130 (NTF4) R G 114 rs377553005 Benign
25404 P34130 (NTF4) R H 133 rs977260366 Benign
25405 P34130 (NTF4) R C 140 rs201069064 Benign
25406 P34130 (NTF4) T I 207 rs371861346 Benign
25407 P34130 (NTF4) T S 207 - Benign
25408 P34741 (SDC2) A T 59 rs3816208 Benign
25409 P34741 (SDC2) S T 71 rs1042381 Benign
25410 P34810 (CD68) Q K 254 rs9901673 Benign
25411 P34810 (CD68) I T 329 rs35452170 Benign
25412 P34810 (CD68) A T 340 rs17607 Benign
25413 P34810 (CD68) A T 350 rs9901675 Benign
25414 P34820 (BMP8B) H R 293 rs6525 Benign
25415 P34896 (SHMT1) E Q 340 rs7215148 Benign
25416 P34896 (SHMT1) L F 474 rs1979277 Benign
25417 P34910 (EVI2B) G R 53 rs9903564 Benign
25418 P34913 (EPHX2) G A 21 rs72473930 Benign
25419 P34913 (EPHX2) R Q 52 rs72475803 Benign
25420 P34913 (EPHX2) K R 55 rs41507953 Benign
25421 P34913 (EPHX2) R C 103 rs17057255 Benign
25422 P34913 (EPHX2) C Y 154 rs57699806 Benign
25423 P34913 (EPHX2) P L 225 rs72475821 Benign
25424 P34913 (EPHX2) R Q 287 rs751141 Benign
25425 P34913 (EPHX2) M V 369 rs72475894 Benign
25426 P34913 (EPHX2) E G 470 rs68053459 Benign
25427 P34925 (RYK) S N 99 rs1131262 Benign
25428 P34925 (RYK) R C 227 rs55740278 Benign
25429 P34931 (HSPA1L) A P 8 rs9469057 Benign
25430 P34931 (HSPA1L) A T 268 rs34620296 Benign
25431 P34931 (HSPA1L) D G 294 rs34360259 Benign
25432 P34931 (HSPA1L) T M 479 rs482145 Benign
25433 P34931 (HSPA1L) T M 493 rs2227956 Benign
25434 P34931 (HSPA1L) E A 558 rs2227955 Benign
25435 P34931 (HSPA1L) E K 602 rs2075800 Benign
25436 P34947 (GRK5) Q L 41 rs2230345 Benign
25437 P34947 (GRK5) A V 119 rs55980792 Benign
25438 P34947 (GRK5) G S 122 rs55902633 Benign
25439 P34947 (GRK5) T M 129 rs34679178 Benign
25440 P34947 (GRK5) L I 141 rs56254855 Benign
25441 P34947 (GRK5) R H 304 rs2230349 Benign
25442 P34949 (MPI) M T 51 rs764835081 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25443 P34949 (MPI) S L 102 rs104894494 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25444 P34949 (MPI) Y C 129 rs887249336 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25445 P34949 (MPI) D N 131 rs566620411 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25446 P34949 (MPI) M T 138 rs104894495 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25447 P34949 (MPI) I T 140 rs773678732 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25448 P34949 (MPI) R Q 152 rs766458792 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25449 P34949 (MPI) R Q 219 rs104894489 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25450 P34949 (MPI) G S 250 rs748090636 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25451 P34949 (MPI) Y C 255 - Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25452 P34949 (MPI) R H 295 rs28928906 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25453 P34949 (MPI) I T 398 rs369326210 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25454 P34949 (MPI) R H 418 rs863225087 Disease: Congenital disorder of glycosylatio n 1B (CDG1B) [MIM:602579]
25455 P34969 (HTR7) T K 92 rs1379762209 Benign
25456 P34969 (HTR7) P L 279 rs114969659 Benign
25457 P34969 (HTR7) P Q 448 rs33954285 Benign
25458 P34972 (CNR2) Q R 63 rs2501432 Benign
25459 P34972 (CNR2) H Y 316 rs2229579 Benign
25460 P34981 (TRHR) N K 10 rs5774 Benign
25461 P34981 (TRHR) P R 81 - Disease: Hypothyroidi sm, congenital, non- goitrous, 7 (CHNG7) [MIM:618573]
25462 P34981 (TRHR) I T 131 - Disease: Hypothyroidi sm, congenital, non- goitrous, 7 (CHNG7) [MIM:618573]
25463 P34981 (TRHR) I M 168 rs13306060 Benign
25464 P34982 (OR1D2) R Q 25 rs769423 Benign
25465 P34982 (OR1D2) F Y 31 rs9916628 Benign
25466 P34982 (OR1D2) V M 214 rs55803944 Benign
25467 P34982 (OR1D2) T I 240 rs4300683 Benign
25468 P34995 (PTGER1) A T 71 rs1057362 Benign
25469 P34995 (PTGER1) T M 223 rs28364042 Benign
25470 P34995 (PTGER1) H R 256 rs7249305 Benign
25471 P35030 (PRSS3) A V 174 rs11547028 Benign
25472 P35030 (PRSS3) T A 188 rs855581 Benign
25473 P35030 (PRSS3) T S 224 rs1063273 Benign
25474 P35030 (PRSS3) Y C 232 rs1048379 Benign
25475 P35052 (GPC1) S G 500 rs2228331 Benign
25476 P35070 (BTC) C G 7 rs28549760 Benign
25477 P35070 (BTC) L F 44 rs56320257 Benign
25478 P35070 (BTC) L M 124 rs11938093 Benign
25479 P35125 (USP6) W R 475 rs8073787 Benign
25480 P35125 (USP6) V I 525 rs2304449 Benign
25481 P35125 (USP6) R Q 912 rs9899177 Benign
25482 P35212 (GJA4) P S 71 - Benign
25483 P35212 (GJA4) A V 128 rs147128480 Benign
25484 P35212 (GJA4) V I 130 rs41266431 Benign
25485 P35212 (GJA4) P S 319 rs1764391 Benign
25486 P35218 (CA5A) S P 233 rs587777316 Disease: Hyperammonem ia due to carbonic anhydrase VA deficiency (CA5AD) [MIM:615751]
25487 P35219 (CA8) S P 100 rs267606695 Disease: Cerebellar ataxia, mental retardation, and dysequilibri um syndrome 3 (CMARQ3) [MIM:613227]
25488 P35221 (CTNNA1) R C 54 rs781520852 Disease: Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970]
25489 P35221 (CTNNA1) A V 179 rs28363394 Benign
25490 P35221 (CTNNA1) P S 219 rs28363406 Benign
25491 P35221 (CTNNA1) E K 307 rs869320697 Disease: Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970]
25492 P35221 (CTNNA1) L S 318 rs869320696 Disease: Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970]
25493 P35221 (CTNNA1) I M 431 rs755215402 Disease: Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970]
25494 P35222 (CTNNB1) D G 32 rs121913396 Disease: Hepatocellul ar carcinoma
25495 P35222 (CTNNB1) D Y 32 rs28931588 Disease: Hepatocellul ar carcinoma
25496 P35222 (CTNNB1) S F 33 rs121913400 Disease: Hepatocellul ar carcinoma
25497 P35222 (CTNNB1) S Y 33 rs121913400 Disease: Pilomatrixom a (PTR) [MIM:132600]
25498 P35222 (CTNNB1) G V 34 rs28931589 Benign
25499 P35222 (CTNNB1) G E 34 rs28931589 Disease: Pilomatrixom a (PTR) [MIM:132600]
25500 P35222 (CTNNB1) S A 37 rs121913228 Disease: Hepatocellul ar carcinoma
25501 P35222 (CTNNB1) S C 37 rs121913403 Disease: Pilomatrixom a (PTR) [MIM:132600]
25502 P35222 (CTNNB1) S F 37 rs121913403 Disease: Pilomatrixom a (PTR) [MIM:132600]
25503 P35222 (CTNNB1) T I 41 rs121913413 Disease: Hepatocellul ar carcinoma
25504 P35222 (CTNNB1) L P 388 - Disease: Neurodevelop mental disorder with spastic diplegia and visual defects (NEDSDV) [MIM:615075]
25505 P35222 (CTNNB1) M V 688 rs4135384 Benign
25506 P35225 (IL13) R Q 144 rs20541 Benign
25507 P35226 (BMI1) C Y 18 rs1042059 Benign
25508 P35227 (PCGF2) P L 65 - Disease: Turnpenny- Fry syndrome (TPFS) [MIM:618371]
25509 P35227 (PCGF2) P S 65 - Disease: Turnpenny- Fry syndrome (TPFS) [MIM:618371]
25510 P35228 (NOS2) R W 221 rs3730017 Benign
25511 P35228 (NOS2) S L 608 rs2297518 Benign
25512 P35228 (NOS2) T A 747 rs28944173 Benign
25513 P35228 (NOS2) R C 1009 rs28944201 Benign
25514 P35237 (SERPINB6) M V 90 rs2295769 Benign
25515 P35237 (SERPINB6) G S 153 rs2295766 Benign
25516 P35240 (NF2) F S 62 rs121434261 Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25517 P35240 (NF2) M V 77 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25518 P35240 (NF2) E G 106 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25519 P35240 (NF2) C R 133 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25520 P35240 (NF2) L P 141 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25521 P35240 (NF2) G C 197 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25522 P35240 (NF2) V M 219 rs1555994816 Benign
25523 P35240 (NF2) N Y 220 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25524 P35240 (NF2) L R 234 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25525 P35240 (NF2) R H 351 rs771675702 Benign
25526 P35240 (NF2) T M 352 rs764441073 Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25527 P35240 (NF2) L P 360 rs74315492 Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25528 P35240 (NF2) K E 413 rs766974263 Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25529 P35240 (NF2) R C 418 rs765540111 Benign
25530 P35240 (NF2) K T 533 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25531 P35240 (NF2) L P 535 rs74315493 Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25532 P35240 (NF2) Q P 538 rs74315494 Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25533 P35240 (NF2) L H 539 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25534 P35240 (NF2) K M 579 - Disease: Neurofibroma tosis 2 (NF2) [MIM:101000]
25535 P35241 (RDX) K E 328 rs17854427 Benign
25536 P35241 (RDX) D N 490 rs34471100 Benign
25537 P35241 (RDX) D N 578 rs121918379 Disease: Deafness, autosomal recessive, 24 (DFNB24) [MIM:611022]
25538 P35247 (SFTPD) M T 31 rs721917 Benign
25539 P35247 (SFTPD) L V 123 rs17878336 Benign
25540 P35247 (SFTPD) T A 180 rs2243639 Benign
25541 P35247 (SFTPD) S T 290 rs3088308 Benign
25542 P35247 (SFTPD) E K 309 rs4469829 Benign
25543 P35249 (RFC4) V A 292 rs2066497 Benign
25544 P35250 (RFC2) A V 232 rs3135684 Benign
25545 P35251 (RFC1) I V 598 rs2066791 Benign
25546 P35251 (RFC1) R L 613 rs1057747 Benign
25547 P35251 (RFC1) E D 692 rs11932767 Benign
25548 P35251 (RFC1) Q K 955 rs17335452 Benign
25549 P35251 (RFC1) S L 1146 rs17288828 Benign
25550 P35269 (GTF2F1) A V 3 rs34826931 Benign
25551 P35270 (SPR) R G 150 rs104893665 Disease: Dystonia, DOPA- responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]
25552 P35270 (SPR) P L 163 rs104893666 Disease: Dystonia, DOPA- responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716]
25553 P35318 (ADM) S R 50 rs5005 Benign
25554 P35318 (ADM) P R 85 rs2228573 Benign
25555 P35321 (SPRR1A) H Q 42 rs1611762 Benign
25556 P35321 (SPRR1A) V I 61 rs1611764 Benign
25557 P35325 (SPRR2B) P S 39 rs1048268 Benign
25558 P35346 (SSTR5) G R 37 rs4988482 Benign
25559 P35346 (SSTR5) L M 48 rs4988483 Benign
25560 P35346 (SSTR5) A V 52 rs4988484 Benign
25561 P35346 (SSTR5) W R 105 rs34803074 Benign
25562 P35346 (SSTR5) P S 109 rs4988487 Benign
25563 P35346 (SSTR5) R C 234 rs34070276 Benign
25564 P35346 (SSTR5) L S 251 rs34474910 Benign
25565 P35346 (SSTR5) V I 267 rs35125411 Benign
25566 P35346 (SSTR5) T M 333 rs12596873 Benign
25567 P35346 (SSTR5) P L 335 rs169068 Benign
25568 P35346 (SSTR5) R K 339 rs35072648 Benign
25569 P35346 (SSTR5) G R 357 rs34947461 Benign
25570 P35348 (ADRA1A) I S 200 rs2229125 Benign
25571 P35348 (ADRA1A) C R 347 rs1048101 Benign
25572 P35348 (ADRA1A) K R 414 rs3730247 Benign
25573 P35348 (ADRA1A) E D 465 rs2229126 Benign
25574 P35354 (PTGS2) R H 228 rs3218622 Benign
25575 P35354 (PTGS2) P A 428 rs4648279 Benign
25576 P35354 (PTGS2) E G 488 rs5272 Benign
25577 P35354 (PTGS2) V A 511 rs5273 Benign
25578 P35354 (PTGS2) G R 587 rs3218625 Benign
25579 P35367 (HRH1) K N 19 rs2067466 Benign
25580 P35367 (HRH1) G E 270 rs7651620 Benign
25581 P35368 (ADRA1B) V G 51 rs8192448 Benign
25582 P35372 (OPRM1) A V 6 rs1799972 Benign
25583 P35372 (OPRM1) N D 40 rs1799971 Benign
25584 P35372 (OPRM1) G V 63 rs9282817 Benign
25585 P35372 (OPRM1) S F 66 rs9282819 Benign
25586 P35372 (OPRM1) S C 147 rs17174794 Benign
25587 P35372 (OPRM1) N D 152 rs17174801 Benign
25588 P35372 (OPRM1) R H 260 rs1799974 Benign
25589 P35372 (OPRM1) R C 265 rs17174822 Benign
25590 P35372 (OPRM1) D N 274 rs17174829 Benign
25591 P35398 (RORA) G A 92 rs1555427498 Disease: Intellectual developmenta l disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]
25592 P35398 (RORA) K R 94 rs1555427497 Disease: Intellectual developmenta l disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]
25593 P35398 (RORA) S R 409 - Disease: Intellectual developmenta l disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]
25594 P35398 (RORA) R Q 462 rs1433850094 Disease: Intellectual developmenta l disorder with or without epilepsy or cerebellar ataxia (IDDECA) [MIM:618060]
25595 P35398 (RORA) T A 476 rs190933482 Benign
25596 P35410 (MAS1L) D E 288 rs17184100 Benign
25597 P35414 (APLNR) V I 300 rs7943508 Benign
25598 P35442 (THBS2) T S 133 rs36088849 Benign
25599 P35442 (THBS2) L F 375 rs35404985 Benign
25600 P35443 (THBS4) L Q 55 rs17881847 Benign
25601 P35443 (THBS4) A P 387 rs1866389 Benign
25602 P35443 (THBS4) A V 420 rs17882372 Benign
25603 P35443 (THBS4) V I 646 rs2229396 Benign
25604 P35443 (THBS4) V I 737 rs2229398 Benign
25605 P35452 (HOXD12) R Q 186 rs35817516 Benign
25606 P35453 (HOXD13) S A 252 rs35290213 Benign
25607 P35453 (HOXD13) R G 306 rs28933082 Disease: Synpolydacty ly 1 (SPD1) [MIM:186000]
25608 P35453 (HOXD13) R Q 306 rs879255265 Disease: Synpolydacty ly 1 (SPD1) [MIM:186000]
25609 P35453 (HOXD13) R W 306 rs28933082 Disease: Synpolydacty ly 1 (SPD1) [MIM:186000]
25610 P35453 (HOXD13) T R 313 - Disease: Synpolydacty ly 1 (SPD1) [MIM:186000]
25611 P35453 (HOXD13) S C 316 rs28928892 Disease: Brachydactyl y E1 (BDE1) [MIM:113300]
25612 P35453 (HOXD13) I L 322 rs28928891 Disease: Brachydactyl y E1 (BDE1) [MIM:113300]
25613 P35453 (HOXD13) Q K 325 rs875989842 Disease: Brachydactyl y- syndactyly- oligodactyly syndrome (BDSDO) [MIM:610713]
25614 P35453 (HOXD13) Q R 325 rs104893635 Disease: Syndactyly 5 (SDTY5) [MIM:186300]
25615 P35462 (DRD3) S G 9 rs6280 Benign
25616 P35475 (IDUA) L P 18 rs794726878 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25617 P35475 (IDUA) H Q 33 rs10794537 Benign
25618 P35475 (IDUA) G D 51 rs794726877 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25619 P35475 (IDUA) A T 75 rs758452450 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25620 P35475 (IDUA) Y C 76 rs780165694 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25621 P35475 (IDUA) A V 79 rs747981483 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25622 P35475 (IDUA) H Q 82 rs148775298 Benign
25623 P35475 (IDUA) H P 82 rs794727239 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25624 P35475 (IDUA) G R 84 - Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25625 P35475 (IDUA) R Q 89 rs121965029 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25626 P35475 (IDUA) R W 89 rs754966840 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25627 P35475 (IDUA) T P 103 - Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25628 P35475 (IDUA) R Q 105 rs3755955 Benign
25629 P35475 (IDUA) G R 116 rs148946496 Benign
25630 P35475 (IDUA) M I 133 rs558683362 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25631 P35475 (IDUA) E K 178 rs992336192 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25632 P35475 (IDUA) E K 182 rs754154200 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25633 P35475 (IDUA) F L 188 - Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25634 P35475 (IDUA) G D 208 rs1430681871 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25635 P35475 (IDUA) L P 218 rs869025584 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25636 P35475 (IDUA) G E 219 rs1230234600 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25637 P35475 (IDUA) L Q 238 rs148789453 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25638 P35475 (IDUA) S F 260 - Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25639 P35475 (IDUA) G R 265 rs369090960 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25640 P35475 (IDUA) E K 276 - Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25641 P35475 (IDUA) V A 279 - Benign
25642 P35475 (IDUA) A T 300 rs121965030 Benign
25643 P35475 (IDUA) W L 306 - Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25644 P35475 (IDUA) D Y 315 - Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25645 P35475 (IDUA) A P 327 rs199801029 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25646 P35475 (IDUA) L R 346 rs121965033 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25647 P35475 (IDUA) N K 348 rs746766617 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25648 P35475 (IDUA) D N 349 rs368454909 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25649 P35475 (IDUA) D Y 349 - Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25650 P35475 (IDUA) N I 350 - Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25651 P35475 (IDUA) A T 361 rs6831280 Benign
25652 P35475 (IDUA) R C 363 rs750496798 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25653 P35475 (IDUA) T P 366 rs121965024 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25654 P35475 (IDUA) Q R 380 rs762903007 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25655 P35475 (IDUA) R H 383 rs754949360 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25656 P35475 (IDUA) P R 385 rs1553917309 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25657 P35475 (IDUA) T R 388 rs794727896 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25658 P35475 (IDUA) L P 396 - Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25659 P35475 (IDUA) G R 409 rs11934801 Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25660 P35475 (IDUA) S R 423 rs931627770 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25661 P35475 (IDUA) A P 436 - Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25662 P35475 (IDUA) H N 449 rs532731688 Benign
25663 P35475 (IDUA) V I 454 rs73066479 Benign
25664 P35475 (IDUA) R P 489 - Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25665 P35475 (IDUA) L P 490 rs121965027 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25666 P35475 (IDUA) R P 492 rs121965026 Disease: Mucopolysacc haridosis 1S (MPS1S) [MIM:607016]
25667 P35475 (IDUA) P L 496 rs772416503 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25668 P35475 (IDUA) P R 496 rs772416503 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25669 P35475 (IDUA) M T 504 - Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25670 P35475 (IDUA) P R 533 rs121965021 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25671 P35475 (IDUA) L F 535 - Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25672 P35475 (IDUA) A T 591 rs398123257 Benign
25673 P35475 (IDUA) F I 602 - Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25674 P35475 (IDUA) R G 619 rs121965031 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25675 P35475 (IDUA) V F 620 - Disease: Mucopolysacc haridosis 1H (MPS1H) [MIM:607014]
25676 P35475 (IDUA) W R 626 rs1281475543 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25677 P35475 (IDUA) R P 628 rs200448421 Disease: Mucopolysacc haridosis 1H/S (MPS1H/S) [MIM:607015]
25678 P35498 (SCN1A) R T 27 rs121917906 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25679 P35498 (SCN1A) G V 58 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25680 P35498 (SCN1A) L F 61 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25681 P35498 (SCN1A) F L 63 rs121917907 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25682 P35498 (SCN1A) I T 68 rs758871507 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25683 P35498 (SCN1A) S P 74 rs121917931 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25684 P35498 (SCN1A) E D 78 rs121917933 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25685 P35498 (SCN1A) D H 79 rs121917982 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25686 P35498 (SCN1A) D N 79 rs121917982 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25687 P35498 (SCN1A) Y C 84 rs121917964 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25688 P35498 (SCN1A) F S 90 rs121918733 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25689 P35498 (SCN1A) I T 91 rs121918734 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25690 P35498 (SCN1A) A P 98 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25691 P35498 (SCN1A) R Q 101 rs121917918 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25692 P35498 (SCN1A) R W 101 rs121917965 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25693 P35498 (SCN1A) S G 103 rs121918743 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25694 P35498 (SCN1A) T I 105 rs796053089 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25695 P35498 (SCN1A) L R 108 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25696 P35498 (SCN1A) T I 112 rs121918745 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25697 P35498 (SCN1A) P T 113 rs794726711 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25698 P35498 (SCN1A) R S 118 rs121917959 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25699 P35498 (SCN1A) I N 124 rs121918761 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25700 P35498 (SCN1A) H D 127 rs148442069 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25701 P35498 (SCN1A) M T 145 rs121918631 Disease: Febrile seizures, familial, 3A (FEB3A) [MIM:604403]
25702 P35498 (SCN1A) T P 162 rs121917934 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25703 P35498 (SCN1A) I K 171 rs121918766 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25704 P35498 (SCN1A) I R 171 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25705 P35498 (SCN1A) A T 175 rs121918767 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25706 P35498 (SCN1A) A V 175 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25707 P35498 (SCN1A) G E 177 rs121918770 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25708 P35498 (SCN1A) F S 178 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25709 P35498 (SCN1A) C R 179 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25710 P35498 (SCN1A) D V 188 rs121917953 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25711 P35498 (SCN1A) W R 190 rs121918773 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25712 P35498 (SCN1A) N K 191 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25713 P35498 (SCN1A) N Y 191 rs121918762 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25714 P35498 (SCN1A) D G 194 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25715 P35498 (SCN1A) D N 194 rs121917935 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25716 P35498 (SCN1A) T R 199 rs121917983 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25717 P35498 (SCN1A) T K 217 rs121917936 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25718 P35498 (SCN1A) F L 218 rs970867558 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25719 P35498 (SCN1A) A E 223 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25720 P35498 (SCN1A) T M 226 rs121917984 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25721 P35498 (SCN1A) T R 226 rs121917984 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25722 P35498 (SCN1A) I S 227 rs121917937 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25723 P35498 (SCN1A) I T 227 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25724 P35498 (SCN1A) S P 228 rs1057519530 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25725 P35498 (SCN1A) G S 232 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25726 P35498 (SCN1A) L R 233 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25727 P35498 (SCN1A) A T 239 rs121917985 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25728 P35498 (SCN1A) A V 239 rs121917909 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25729 P35498 (SCN1A) S Y 243 rs794726755 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25730 P35498 (SCN1A) I M 252 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25731 P35498 (SCN1A) I N 252 rs121918780 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25732 P35498 (SCN1A) T I 254 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25733 P35498 (SCN1A) S R 259 rs121918735 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25734 P35498 (SCN1A) G W 265 rs121918749 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25735 P35498 (SCN1A) C R 277 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25736 P35498 (SCN1A) W C 280 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25737 P35498 (SCN1A) W R 280 rs121917938 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25738 P35498 (SCN1A) P A 281 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25739 P35498 (SCN1A) P L 281 rs796052964 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25740 P35498 (SCN1A) P S 281 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25741 P35498 (SCN1A) E V 289 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25742 P35498 (SCN1A) H R 290 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25743 P35498 (SCN1A) S G 291 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25744 P35498 (SCN1A) T I 297 rs121918771 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25745 P35498 (SCN1A) R I 322 rs121917928 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25746 P35498 (SCN1A) A V 333 - Benign
25747 P35498 (SCN1A) S F 340 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25748 P35498 (SCN1A) A V 342 rs794726797 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25749 P35498 (SCN1A) G D 343 rs121918753 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25750 P35498 (SCN1A) C R 345 rs794726782 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25751 P35498 (SCN1A) C W 351 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25752 P35498 (SCN1A) G D 355 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25753 P35498 (SCN1A) R G 356 rs121917920 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25754 P35498 (SCN1A) N I 357 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25755 P35498 (SCN1A) P T 358 rs121917923 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25756 P35498 (SCN1A) N S 359 rs794726713 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25757 P35498 (SCN1A) T P 363 rs1131691465 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25758 P35498 (SCN1A) T R 363 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25759 P35498 (SCN1A) D E 366 rs121917958 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25760 P35498 (SCN1A) R Q 377 rs121917957 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25761 P35498 (SCN1A) L Q 378 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25762 P35498 (SCN1A) M R 379 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25763 P35498 (SCN1A) D N 382 - Disease: -
25764 P35498 (SCN1A) F L 383 rs121917939 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25765 P35498 (SCN1A) W R 384 rs1057523858 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25766 P35498 (SCN1A) Y H 388 rs121918781 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25767 P35498 (SCN1A) R C 393 rs121917929 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25768 P35498 (SCN1A) R H 393 rs121917927 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25769 P35498 (SCN1A) R S 393 rs121917929 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25770 P35498 (SCN1A) A P 395 rs121917988 Disease: -
25771 P35498 (SCN1A) M V 400 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25772 P35498 (SCN1A) F L 403 rs121917966 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25773 P35498 (SCN1A) F V 403 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25774 P35498 (SCN1A) V F 406 rs121918768 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25775 P35498 (SCN1A) L W 409 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25776 P35498 (SCN1A) Y N 413 rs121917967 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25777 P35498 (SCN1A) V E 422 rs121917989 Disease: -
25778 P35498 (SCN1A) Y C 426 rs796052973 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25779 P35498 (SCN1A) Y N 426 rs121917940 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25780 P35498 (SCN1A) S F 525 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25781 P35498 (SCN1A) R H 604 rs121918769 Benign
25782 P35498 (SCN1A) E D 616 rs1057519529 Disease: -
25783 P35498 (SCN1A) S G 626 rs121917990 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25784 P35498 (SCN1A) D G 674 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25785 P35498 (SCN1A) V I 699 rs1260934774 Benign
25786 P35498 (SCN1A) N D 762 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25787 P35498 (SCN1A) L P 783 rs121917968 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25788 P35498 (SCN1A) M T 785 rs796053095 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25789 P35498 (SCN1A) Y C 790 rs121918782 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25790 P35498 (SCN1A) Y F 790 rs121918782 Disease: -
25791 P35498 (SCN1A) T S 808 rs121918758 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25792 P35498 (SCN1A) T I 812 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25793 P35498 (SCN1A) T R 812 rs121917941 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25794 P35498 (SCN1A) L R 842 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25795 P35498 (SCN1A) S R 843 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25796 P35498 (SCN1A) E K 846 rs121917942 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25797 P35498 (SCN1A) R C 859 rs121918784 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25798 P35498 (SCN1A) R H 859 rs398123588 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25799 P35498 (SCN1A) R Q 862 rs121918785 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25800 P35498 (SCN1A) R G 865 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25801 P35498 (SCN1A) T K 875 rs121918623 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25802 P35498 (SCN1A) T M 875 rs121918623 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25803 P35498 (SCN1A) L I 876 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25804 P35498 (SCN1A) L P 890 rs1553541473 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25805 P35498 (SCN1A) V F 896 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25806 P35498 (SCN1A) V I 896 rs745378416 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25807 P35498 (SCN1A) V L 896 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25808 P35498 (SCN1A) I T 899 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25809 P35498 (SCN1A) F C 902 rs121918787 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25810 P35498 (SCN1A) A T 924 rs141950573 Benign
25811 P35498 (SCN1A) C F 927 rs794726811 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25812 P35498 (SCN1A) R C 931 rs121918788 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25813 P35498 (SCN1A) R H 931 rs794726718 Disease: -
25814 P35498 (SCN1A) W C 932 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25815 P35498 (SCN1A) H P 933 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25816 P35498 (SCN1A) M I 934 rs121918774 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25817 P35498 (SCN1A) N H 935 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25818 P35498 (SCN1A) H Q 939 rs121918795 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25819 P35498 (SCN1A) H Y 939 rs121918736 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25820 P35498 (SCN1A) S F 940 rs1057521080 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25821 P35498 (SCN1A) L P 942 rs121917943 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25822 P35498 (SCN1A) I N 943 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25823 P35498 (SCN1A) V A 944 rs121917969 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25824 P35498 (SCN1A) V E 944 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25825 P35498 (SCN1A) F L 945 rs121917970 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25826 P35498 (SCN1A) R C 946 rs121918775 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25827 P35498 (SCN1A) R H 946 rs121917971 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25828 P35498 (SCN1A) R S 946 rs121918775 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25829 P35498 (SCN1A) C S 949 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25830 P35498 (SCN1A) C Y 949 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25831 P35498 (SCN1A) G E 950 rs121917972 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25832 P35498 (SCN1A) G R 950 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25833 P35498 (SCN1A) W G 952 rs121918737 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25834 P35498 (SCN1A) E K 954 rs121918786 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25835 P35498 (SCN1A) M K 956 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25836 P35498 (SCN1A) W L 957 rs121917917 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25837 P35498 (SCN1A) C R 959 rs121918796 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25838 P35498 (SCN1A) M T 960 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25839 P35498 (SCN1A) M V 960 rs121918750 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25840 P35498 (SCN1A) M K 973 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25841 P35498 (SCN1A) M V 973 rs121917991 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25842 P35498 (SCN1A) M I 976 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25843 P35498 (SCN1A) G R 979 rs121918754 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25844 P35498 (SCN1A) G V 979 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25845 P35498 (SCN1A) V A 983 rs121918756 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25846 P35498 (SCN1A) N I 985 rs121918747 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25847 P35498 (SCN1A) L F 986 rs121918625 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25848 P35498 (SCN1A) L P 986 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25849 P35498 (SCN1A) F L 987 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25850 P35498 (SCN1A) S R 993 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25851 P35498 (SCN1A) D G 998 rs1484321812 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25852 P35498 (SCN1A) D E 1006 rs375909896 Disease: -
25853 P35498 (SCN1A) N I 1011 rs121918759 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25854 P35498 (SCN1A) I T 1034 rs121918818 Benign
25855 P35498 (SCN1A) A T 1067 rs2298771 Benign
25856 P35498 (SCN1A) E K 1068 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25857 P35498 (SCN1A) V I 1079 - Benign
25858 P35498 (SCN1A) P T 1109 rs753452775 Benign
25859 P35498 (SCN1A) T S 1174 rs121918799 Disease: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
25860 P35498 (SCN1A) W R 1204 rs121917930 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25861 P35498 (SCN1A) W S 1204 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25862 P35498 (SCN1A) L P 1207 rs121917963 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25863 P35498 (SCN1A) R K 1208 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25864 P35498 (SCN1A) T K 1210 rs121918738 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25865 P35498 (SCN1A) R Q 1213 rs566081370 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25866 P35498 (SCN1A) E K 1221 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25867 P35498 (SCN1A) L F 1230 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25868 P35498 (SCN1A) S R 1231 rs121918746 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25869 P35498 (SCN1A) S T 1231 rs121918800 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25870 P35498 (SCN1A) G R 1233 rs121917911 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25871 P35498 (SCN1A) E D 1238 rs121917973 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25872 P35498 (SCN1A) D G 1239 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25873 P35498 (SCN1A) D Y 1239 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25874 P35498 (SCN1A) R Q 1245 rs121917912 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25875 P35498 (SCN1A) K N 1249 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25876 P35498 (SCN1A) T M 1250 rs140731963 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25877 P35498 (SCN1A) Y C 1254 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25878 P35498 (SCN1A) A D 1255 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25879 P35498 (SCN1A) T P 1260 rs121918739 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25880 P35498 (SCN1A) F L 1263 rs121918752 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25881 P35498 (SCN1A) L P 1265 rs121918794 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25882 P35498 (SCN1A) E A 1266 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25883 P35498 (SCN1A) K T 1270 rs121918626 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25884 P35498 (SCN1A) G V 1275 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25885 P35498 (SCN1A) W S 1284 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25886 P35498 (SCN1A) L P 1287 rs121918740 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25887 P35498 (SCN1A) D N 1288 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25888 P35498 (SCN1A) L F 1309 rs121918801 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25889 P35498 (SCN1A) R G 1316 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25890 P35498 (SCN1A) R S 1316 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25891 P35498 (SCN1A) A V 1320 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25892 P35498 (SCN1A) R T 1325 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25893 P35498 (SCN1A) A D 1326 - Disease: -
25894 P35498 (SCN1A) A P 1326 rs121918803 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25895 P35498 (SCN1A) S P 1328 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25896 P35498 (SCN1A) V M 1335 rs121917960 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25897 P35498 (SCN1A) A V 1339 rs794726789 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25898 P35498 (SCN1A) I M 1344 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25899 P35498 (SCN1A) P L 1345 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25900 P35498 (SCN1A) V G 1350 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25901 P35498 (SCN1A) V L 1353 rs121917954 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25902 P35498 (SCN1A) L P 1355 rs121918776 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25903 P35498 (SCN1A) F L 1357 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25904 P35498 (SCN1A) W R 1358 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25905 P35498 (SCN1A) W S 1358 rs121917961 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25906 P35498 (SCN1A) V I 1366 rs121918805 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25907 P35498 (SCN1A) N K 1367 rs121918760 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25908 P35498 (SCN1A) A P 1370 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25909 P35498 (SCN1A) C R 1376 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25910 P35498 (SCN1A) N H 1378 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25911 P35498 (SCN1A) N T 1378 rs1131691775 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25912 P35498 (SCN1A) F V 1385 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25913 P35498 (SCN1A) V M 1390 rs121917986 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25914 P35498 (SCN1A) N S 1391 rs1553525062 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25915 P35498 (SCN1A) H P 1393 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25916 P35498 (SCN1A) T I 1394 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25917 P35498 (SCN1A) C G 1396 rs121917987 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25918 P35498 (SCN1A) C Y 1396 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25919 P35498 (SCN1A) N D 1414 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25920 P35498 (SCN1A) N Y 1414 rs121917925 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25921 P35498 (SCN1A) D G 1416 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25922 P35498 (SCN1A) N S 1417 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25923 P35498 (SCN1A) V G 1418 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25924 P35498 (SCN1A) Y C 1422 rs121917913 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25925 P35498 (SCN1A) L F 1423 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25926 P35498 (SCN1A) L R 1426 rs121917944 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25927 P35498 (SCN1A) Q P 1427 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25928 P35498 (SCN1A) V A 1428 rs121918627 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25929 P35498 (SCN1A) A D 1429 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25930 P35498 (SCN1A) F I 1431 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25931 P35498 (SCN1A) G E 1433 rs121918741 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25932 P35498 (SCN1A) G R 1433 rs121917908 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25933 P35498 (SCN1A) G V 1433 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25934 P35498 (SCN1A) W R 1434 rs121918789 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25935 P35498 (SCN1A) I M 1437 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25936 P35498 (SCN1A) A P 1441 rs121917974 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25937 P35498 (SCN1A) Q K 1450 rs121918806 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25938 P35498 (SCN1A) Q R 1450 rs121918790 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25939 P35498 (SCN1A) P L 1451 rs121917945 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25940 P35498 (SCN1A) P S 1451 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25941 P35498 (SCN1A) Y C 1453 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25942 P35498 (SCN1A) E K 1454 rs796053012 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25943 P35498 (SCN1A) L I 1461 rs121918772 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25944 P35498 (SCN1A) Y C 1462 rs121917962 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25945 P35498 (SCN1A) Y H 1462 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25946 P35498 (SCN1A) F S 1463 rs121917946 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25947 P35498 (SCN1A) G W 1470 rs121917924 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25948 P35498 (SCN1A) F S 1472 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25949 P35498 (SCN1A) L S 1475 rs121917947 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25950 P35498 (SCN1A) N K 1476 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25951 P35498 (SCN1A) G V 1480 rs121917996 Disease: -
25952 P35498 (SCN1A) I M 1483 - Disease: -
25953 P35498 (SCN1A) D G 1484 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25954 P35498 (SCN1A) N Y 1485 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25955 P35498 (SCN1A) Q H 1489 rs121918633 Disease: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
25956 P35498 (SCN1A) Q K 1489 rs121918628 Disease: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
25957 P35498 (SCN1A) F L 1499 rs121918632 Disease: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
25958 P35498 (SCN1A) E K 1503 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25959 P35498 (SCN1A) M K 1511 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25960 P35498 (SCN1A) L S 1514 rs121918764 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25961 P35498 (SCN1A) V I 1538 rs780360360 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25962 P35498 (SCN1A) F S 1543 rs121917992 Benign
25963 P35498 (SCN1A) D A 1544 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25964 P35498 (SCN1A) D G 1544 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25965 P35498 (SCN1A) I V 1545 rs121917975 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25966 P35498 (SCN1A) M R 1555 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25967 P35498 (SCN1A) E K 1561 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25968 P35498 (SCN1A) V E 1579 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25969 P35498 (SCN1A) G E 1586 rs121918742 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25970 P35498 (SCN1A) C R 1588 rs121917919 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25971 P35498 (SCN1A) L H 1592 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25972 P35498 (SCN1A) L P 1592 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25973 P35498 (SCN1A) R C 1596 rs121917993 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25974 P35498 (SCN1A) R H 1596 rs575368466 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25975 P35498 (SCN1A) R L 1596 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25976 P35498 (SCN1A) N I 1605 rs1057519533 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25977 P35498 (SCN1A) N S 1605 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25978 P35498 (SCN1A) D G 1608 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25979 P35498 (SCN1A) D Y 1608 rs121917915 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25980 P35498 (SCN1A) V F 1611 rs121918630 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25981 P35498 (SCN1A) V I 1612 rs121918808 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25982 P35498 (SCN1A) M V 1619 rs373967247 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25983 P35498 (SCN1A) V L 1630 rs121917914 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25984 P35498 (SCN1A) V M 1630 rs121917914 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25985 P35498 (SCN1A) P S 1632 rs121918755 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
25986 P35498 (SCN1A) R Q 1636 rs121917995 Disease: -
25987 P35498 (SCN1A) V E 1637 rs121918810 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25988 P35498 (SCN1A) I N 1638 rs1057521079 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25989 P35498 (SCN1A) I T 1638 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25990 P35498 (SCN1A) R G 1639 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25991 P35498 (SCN1A) R S 1642 rs1131691581 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25992 P35498 (SCN1A) R Q 1645 rs121917976 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25993 P35498 (SCN1A) R C 1648 rs121918791 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25994 P35498 (SCN1A) R H 1648 rs121918622 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25995 P35498 (SCN1A) L Q 1649 - Disease: Migraine, familial hemiplegic, 3 (FHM3) [MIM:609634]
25996 P35498 (SCN1A) A E 1653 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
25997 P35498 (SCN1A) I M 1656 rs121917955 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25998 P35498 (SCN1A) R C 1657 rs121918811 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
25999 P35498 (SCN1A) R H 1657 rs121917994 Disease: -
26000 P35498 (SCN1A) T M 1658 rs121917922 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26001 P35498 (SCN1A) T R 1658 rs121917922 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26002 P35498 (SCN1A) L P 1660 rs1131691675 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26003 P35498 (SCN1A) F S 1661 rs121918797 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26004 P35498 (SCN1A) A V 1662 rs794726839 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26005 P35498 (SCN1A) M K 1664 rs121918765 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26006 P35498 (SCN1A) L P 1667 rs1131691774 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26007 P35498 (SCN1A) P A 1668 rs121917948 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26008 P35498 (SCN1A) P L 1668 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26009 P35498 (SCN1A) N I 1672 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26010 P35498 (SCN1A) I T 1673 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26011 P35498 (SCN1A) G R 1674 rs121918792 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26012 P35498 (SCN1A) L R 1675 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26013 P35498 (SCN1A) L F 1677 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26014 P35498 (SCN1A) I F 1683 - Disease: -
26015 P35498 (SCN1A) I T 1683 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26016 P35498 (SCN1A) Y D 1684 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26017 P35498 (SCN1A) Y S 1684 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
26018 P35498 (SCN1A) A D 1685 rs121918744 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26019 P35498 (SCN1A) A V 1685 rs121918744 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26020 P35498 (SCN1A) F S 1687 rs121917932 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26021 P35498 (SCN1A) G W 1688 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26022 P35498 (SCN1A) F S 1692 rs121918778 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26023 P35498 (SCN1A) Y C 1694 rs121918777 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26024 P35498 (SCN1A) F V 1707 rs121917977 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26025 P35498 (SCN1A) T I 1709 rs121918629 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
26026 P35498 (SCN1A) S N 1713 rs121918816 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26027 P35498 (SCN1A) M K 1714 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26028 P35498 (SCN1A) M R 1714 rs121917949 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26029 P35498 (SCN1A) C R 1716 rs121917926 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26030 P35498 (SCN1A) T R 1721 rs121917978 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26031 P35498 (SCN1A) A P 1724 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
26032 P35498 (SCN1A) G C 1725 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26033 P35498 (SCN1A) W R 1726 rs121917979 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26034 P35498 (SCN1A) D G 1727 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26035 P35498 (SCN1A) P L 1739 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26036 P35498 (SCN1A) C R 1741 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26037 P35498 (SCN1A) D G 1742 rs121918812 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26038 P35498 (SCN1A) G E 1749 rs121918798 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26039 P35498 (SCN1A) C G 1756 rs121918809 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26040 P35498 (SCN1A) G E 1762 rs121917950 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26041 P35498 (SCN1A) I N 1763 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26042 P35498 (SCN1A) F L 1765 - Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26043 P35498 (SCN1A) I F 1770 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26044 P35498 (SCN1A) I N 1770 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26045 P35498 (SCN1A) I T 1770 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26046 P35498 (SCN1A) I F 1771 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26047 P35498 (SCN1A) I N 1771 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26048 P35498 (SCN1A) S F 1773 rs121917951 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26049 P35498 (SCN1A) M T 1780 rs121917952 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26050 P35498 (SCN1A) Y C 1781 rs121918779 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
26051 P35498 (SCN1A) Y H 1781 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26052 P35498 (SCN1A) I M 1782 rs121918763 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26053 P35498 (SCN1A) I S 1782 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26054 P35498 (SCN1A) A T 1783 rs121917980 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26055 P35498 (SCN1A) A V 1783 rs121917921 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26056 P35498 (SCN1A) E K 1787 rs121917916 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26057 P35498 (SCN1A) A T 1792 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26058 P35498 (SCN1A) E K 1795 rs121918813 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26059 P35498 (SCN1A) F I 1808 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26060 P35498 (SCN1A) F L 1808 rs121918757 Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
26061 P35498 (SCN1A) W G 1812 rs121918751 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26062 P35498 (SCN1A) W S 1812 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26063 P35498 (SCN1A) F S 1831 rs121918748 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26064 P35498 (SCN1A) A P 1832 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26065 P35498 (SCN1A) L F 1835 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26066 P35498 (SCN1A) M K 1852 - Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26067 P35498 (SCN1A) M T 1852 rs121918783 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26068 P35498 (SCN1A) P L 1855 rs1057517958 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26069 P35498 (SCN1A) V L 1857 rs121918814 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26070 P35498 (SCN1A) R W 1861 - Disease: Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208]
26071 P35498 (SCN1A) D Y 1866 rs121918815 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26072 P35498 (SCN1A) I T 1867 rs1131691773 Disease: Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403]
26073 P35498 (SCN1A) G E 1880 rs201905405 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26074 P35498 (SCN1A) E D 1881 rs121918804 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26075 P35498 (SCN1A) T I 1909 rs121918793 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26076 P35498 (SCN1A) I T 1922 rs121917981 Disease: Epileptic encephalopat hy, early infantile, 6 (EIEE6) [MIM:607208]
26077 P35498 (SCN1A) R G 1928 rs121917956 Benign
26078 P35498 (SCN1A) I T 1955 rs35735053 Benign
26079 P35498 (SCN1A) E G 1957 rs121918802 Benign
26080 P35499 (SCN4A) R H 104 rs1248025530 Disease: -
26081 P35499 (SCN4A) M V 135 - Benign
26082 P35499 (SCN4A) I V 141 rs121908561 Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26083 P35499 (SCN4A) M K 203 rs933258893 Disease: -
26084 P35499 (SCN4A) R W 222 rs527236148 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26085 P35499 (SCN4A) R W 225 rs764718003 Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26086 P35499 (SCN4A) S L 246 rs80338951 Benign
26087 P35499 (SCN4A) Q K 270 - Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26088 P35499 (SCN4A) P T 382 - Disease: -
26089 P35499 (SCN4A) V M 445 rs121908552 Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26090 P35499 (SCN4A) E K 452 rs372631097 Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26091 P35499 (SCN4A) S G 524 rs6504191 Benign
26092 P35499 (SCN4A) N D 559 rs1047705 Benign
26093 P35499 (SCN4A) R H 669 rs80338784 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26094 P35499 (SCN4A) F S 671 - Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26095 P35499 (SCN4A) R C 672 rs80338785 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26096 P35499 (SCN4A) R G 672 rs80338785 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26097 P35499 (SCN4A) R H 672 rs80338788 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26098 P35499 (SCN4A) R S 672 rs80338785 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26099 P35499 (SCN4A) R G 675 rs121908556 Disease: Periodic paralysis normokalemic (NKPP) [MIM:170500]
26100 P35499 (SCN4A) R Q 675 rs121908557 Disease: Periodic paralysis normokalemic (NKPP) [MIM:170500]
26101 P35499 (SCN4A) R W 675 rs121908556 Disease: Periodic paralysis normokalemic (NKPP) [MIM:170500]
26102 P35499 (SCN4A) I T 693 rs80338956 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26103 P35499 (SCN4A) T M 704 rs80338957 Disease: Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
26104 P35499 (SCN4A) A T 715 rs749400108 Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26105 P35499 (SCN4A) V I 781 rs62070884 Benign
26106 P35499 (SCN4A) S F 804 rs121908546 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26107 P35499 (SCN4A) S N 804 - Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26108 P35499 (SCN4A) A D 861 - Benign
26109 P35499 (SCN4A) D N 1069 rs373150395 Disease: -
26110 P35499 (SCN4A) R Q 1129 rs527236149 Disease: Periodic paralysis normokalemic (NKPP) [MIM:170500]
26111 P35499 (SCN4A) R Q 1132 rs80338789 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26112 P35499 (SCN4A) R C 1135 rs1287863349 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26113 P35499 (SCN4A) R H 1135 rs527236150 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26114 P35499 (SCN4A) A D 1152 - Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26115 P35499 (SCN4A) A T 1156 rs80338958 Disease: Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
26116 P35499 (SCN4A) P S 1158 rs121908555 Disease: Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]
26117 P35499 (SCN4A) I V 1160 rs121908549 Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26118 P35499 (SCN4A) C F 1209 - Disease: -
26119 P35499 (SCN4A) F L 1290 - Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26120 P35499 (SCN4A) V I 1293 rs121908551 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26121 P35499 (SCN4A) N K 1297 rs121908560 Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26122 P35499 (SCN4A) G A 1306 rs80338792 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26123 P35499 (SCN4A) G E 1306 rs80338792 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26124 P35499 (SCN4A) G V 1306 rs80338792 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26125 P35499 (SCN4A) I N 1310 - Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26126 P35499 (SCN4A) T M 1313 rs121908547 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26127 P35499 (SCN4A) N D 1376 rs2058194 Benign
26128 P35499 (SCN4A) L R 1433 rs121908550 Disease: Periodic paralysis hyperkalemic (HYPP) [MIM:170500]
26129 P35499 (SCN4A) L P 1436 - Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26130 P35499 (SCN4A) V E 1442 rs121908553 Disease: Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198]
26131 P35499 (SCN4A) R C 1448 rs121908544 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26132 P35499 (SCN4A) R H 1448 rs121908545 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26133 P35499 (SCN4A) R L 1448 - Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26134 P35499 (SCN4A) R W 1454 rs879253789 Disease: Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198]
26135 P35499 (SCN4A) G E 1456 rs121908554 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26136 P35499 (SCN4A) R H 1457 rs863225046 Disease: Myasthenic syndrome, congenital, 16 (CMS16) [MIM:614198]
26137 P35499 (SCN4A) F S 1473 - Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26138 P35499 (SCN4A) M I 1476 rs121908559 Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26139 P35499 (SCN4A) A D 1481 - Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26140 P35499 (SCN4A) V M 1589 rs121908548 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26141 P35499 (SCN4A) M V 1592 rs80338962 Disease: Periodic paralysis normokalemic (NKPP) [MIM:170500]
26142 P35499 (SCN4A) Q E 1633 - Disease: Myotonia SCN4A- related (MYOSCN4A) [MIM:608390]
26143 P35499 (SCN4A) F I 1705 rs1064794243 Disease: Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]
26144 P35503 (UGT1A3) Q R 6 rs28898617 Benign
26145 P35503 (UGT1A3) W R 11 rs3821242 Benign
26146 P35503 (UGT1A3) R W 45 rs45625338 Benign
26147 P35503 (UGT1A3) V A 47 rs6431625 Benign
26148 P35503 (UGT1A3) R W 49 rs45595237 Benign
26149 P35503 (UGT1A3) T I 78 rs28898618 Benign
26150 P35503 (UGT1A3) M I 114 rs28898619 Benign
26151 P35503 (UGT1A3) T I 144 rs13406898 Benign
26152 P35503 (UGT1A3) A V 158 rs61764030 Benign
26153 P35503 (UGT1A3) M V 270 rs45449995 Benign
26154 P35504 (UGT1A5) L S 48 rs3755323 Benign
26155 P35504 (UGT1A5) D E 50 rs3755322 Benign
26156 P35504 (UGT1A5) L P 63 rs3755321 Benign
26157 P35504 (UGT1A5) H N 142 rs3755320 Benign
26158 P35504 (UGT1A5) T S 144 rs28946885 Benign
26159 P35504 (UGT1A5) A G 158 rs12475068 Benign
26160 P35504 (UGT1A5) H Y 225 rs17862867 Benign
26161 P35504 (UGT1A5) V L 249 rs17862868 Benign
26162 P35504 (UGT1A5) G R 259 rs3892170 Benign
26163 P35520 (CBS) R C 18 rs201827340 Benign
26164 P35520 (CBS) P L 49 rs148865119 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26165 P35520 (CBS) R W 58 rs555959266 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26166 P35520 (CBS) H R 65 rs1191141364 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26167 P35520 (CBS) A P 69 rs17849313 Benign
26168 P35520 (CBS) P R 78 rs786204608 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26169 P35520 (CBS) G R 85 rs863223435 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26170 P35520 (CBS) T N 87 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26171 P35520 (CBS) P S 88 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26172 P35520 (CBS) L P 101 rs786204757 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26173 P35520 (CBS) K Q 102 rs34040148 Benign
26174 P35520 (CBS) K N 102 rs786204609 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26175 P35520 (CBS) C R 109 rs778220779 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26176 P35520 (CBS) A V 114 rs121964964 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26177 P35520 (CBS) G R 116 rs760214620 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26178 P35520 (CBS) R C 121 rs775992753 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26179 P35520 (CBS) R H 121 rs770095972 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26180 P35520 (CBS) R L 121 rs770095972 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26181 P35520 (CBS) R P 125 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26182 P35520 (CBS) R Q 125 rs781444670 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26183 P35520 (CBS) R W 125 rs886057100 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26184 P35520 (CBS) M V 126 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26185 P35520 (CBS) E D 128 rs374593242 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26186 P35520 (CBS) E D 131 rs1555875351 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26187 P35520 (CBS) G R 139 rs121964965 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26188 P35520 (CBS) I M 143 rs370167302 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26189 P35520 (CBS) E K 144 rs121964966 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26190 P35520 (CBS) P L 145 rs121964963 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26191 P35520 (CBS) G R 148 rs755952006 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26192 P35520 (CBS) G R 151 rs373782713 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26193 P35520 (CBS) I M 152 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26194 P35520 (CBS) L Q 154 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26195 P35520 (CBS) A T 155 rs1429138569 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26196 P35520 (CBS) A V 155 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26197 P35520 (CBS) C Y 165 rs1347651454 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26198 P35520 (CBS) V A 168 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26199 P35520 (CBS) V M 168 rs121964970 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26200 P35520 (CBS) M V 173 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26201 P35520 (CBS) E K 176 rs762065361 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26202 P35520 (CBS) V A 180 rs1555875010 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26203 P35520 (CBS) T M 191 rs121964973 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26204 P35520 (CBS) D V 198 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26205 P35520 (CBS) P L 200 rs758712880 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26206 P35520 (CBS) R H 224 rs761647392 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26207 P35520 (CBS) A T 226 rs763835246 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26208 P35520 (CBS) N K 228 rs1464223176 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26209 P35520 (CBS) N S 228 rs1555874803 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26210 P35520 (CBS) A P 231 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26211 P35520 (CBS) D N 234 rs773734233 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26212 P35520 (CBS) E K 239 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26213 P35520 (CBS) T M 257 rs758236584 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26214 P35520 (CBS) T M 262 rs149119723 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26215 P35520 (CBS) T R 262 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26216 P35520 (CBS) R G 266 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26217 P35520 (CBS) R K 266 rs121964969 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26218 P35520 (CBS) C Y 275 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26219 P35520 (CBS) I S 278 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26220 P35520 (CBS) I T 278 rs5742905 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26221 P35520 (CBS) D N 281 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26222 P35520 (CBS) A P 288 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26223 P35520 (CBS) A T 288 rs141502207 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26224 P35520 (CBS) P L 290 rs760912339 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26225 P35520 (CBS) E K 302 rs779270933 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26226 P35520 (CBS) G R 305 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26227 P35520 (CBS) G S 307 rs121964962 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26228 P35520 (CBS) V A 320 rs781567152 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26229 P35520 (CBS) D V 321 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26230 P35520 (CBS) A E 331 rs777919630 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26231 P35520 (CBS) A V 331 rs777919630 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26232 P35520 (CBS) R C 336 rs398123151 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26233 P35520 (CBS) R H 336 rs760417941 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26234 P35520 (CBS) L P 338 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26235 P35520 (CBS) G S 347 rs771298943 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26236 P35520 (CBS) S N 349 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26237 P35520 (CBS) S N 352 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26238 P35520 (CBS) T M 353 rs121964972 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26239 P35520 (CBS) V M 354 rs267606146 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26240 P35520 (CBS) A P 355 rs1192581453 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26241 P35520 (CBS) A T 361 rs745764562 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26242 P35520 (CBS) R C 369 rs117687681 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26243 P35520 (CBS) R H 369 rs11700812 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26244 P35520 (CBS) C Y 370 rs757920190 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26245 P35520 (CBS) V M 371 rs372010465 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26246 P35520 (CBS) D N 376 rs1170128038 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26247 P35520 (CBS) R Q 379 rs763036586 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26248 P35520 (CBS) R W 379 rs769080151 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26249 P35520 (CBS) K E 384 rs121964967 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26250 P35520 (CBS) K N 384 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26251 P35520 (CBS) M I 391 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26252 P35520 (CBS) P L 422 rs28934892 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26253 P35520 (CBS) P L 427 rs863223434 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26254 P35520 (CBS) T N 434 rs1555872506 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26255 P35520 (CBS) I T 435 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26256 P35520 (CBS) R Q 439 rs756467921 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26257 P35520 (CBS) D N 444 rs28934891 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26258 P35520 (CBS) A S 446 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26259 P35520 (CBS) V G 449 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26260 P35520 (CBS) V E 454 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26261 P35520 (CBS) L P 456 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26262 P35520 (CBS) S L 466 rs121964971 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26263 P35520 (CBS) R C 491 rs1339830457 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26264 P35520 (CBS) S L 500 rs755106884 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26265 P35520 (CBS) Q K 526 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26266 P35520 (CBS) V D 534 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26267 P35520 (CBS) L S 539 rs121964968 Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26268 P35520 (CBS) L Q 540 - Disease: Cystathionin e beta- synthase deficiency (CBSD) [MIM:236200]
26269 P35520 (CBS) R Q 548 rs150828989 Benign
26270 P35523 (CLCN1) Q R 43 rs868831424 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26271 P35523 (CLCN1) R C 105 rs201509501 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26272 P35523 (CLCN1) G W 118 rs10282312 Benign
26273 P35523 (CLCN1) M V 128 rs80356699 Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26274 P35523 (CLCN1) D G 136 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26275 P35523 (CLCN1) Y D 137 rs748639603 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26276 P35523 (CLCN1) Y C 150 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26277 P35523 (CLCN1) Q R 154 rs111482384 Benign
26278 P35523 (CLCN1) Q H 160 rs771532474 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26279 P35523 (CLCN1) F V 161 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26280 P35523 (CLCN1) W R 164 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26281 P35523 (CLCN1) V G 165 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26282 P35523 (CLCN1) F L 167 rs149729531 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26283 P35523 (CLCN1) G S 190 rs797045032 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26284 P35523 (CLCN1) E K 193 rs80356686 Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26285 P35523 (CLCN1) I R 197 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26286 P35523 (CLCN1) L P 198 - Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26287 P35523 (CLCN1) G R 200 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26288 P35523 (CLCN1) G E 230 rs80356700 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26289 P35523 (CLCN1) V L 236 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26290 P35523 (CLCN1) Y C 261 rs200621976 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26291 P35523 (CLCN1) G V 270 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26292 P35523 (CLCN1) C R 277 rs757109632 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26293 P35523 (CLCN1) C Y 277 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26294 P35523 (CLCN1) G E 285 rs150885084 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26295 P35523 (CLCN1) V A 286 rs80356689 Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26296 P35523 (CLCN1) I M 290 rs80356690 Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26297 P35523 (CLCN1) E K 291 rs121912805 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26298 P35523 (CLCN1) R Q 300 rs118066140 Benign
26299 P35523 (CLCN1) F S 307 rs80356701 Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26300 P35523 (CLCN1) A T 313 rs80356692 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26301 P35523 (CLCN1) R Q 317 rs80356702 Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26302 P35523 (CLCN1) V I 327 rs774396430 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26303 P35523 (CLCN1) I T 329 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26304 P35523 (CLCN1) R Q 338 rs80356703 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26305 P35523 (CLCN1) Q P 412 rs1279658001 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26306 P35523 (CLCN1) F C 413 rs121912799 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26307 P35523 (CLCN1) A V 415 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26308 P35523 (CLCN1) A T 437 rs41276054 Benign
26309 P35523 (CLCN1) P H 480 - Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26310 P35523 (CLCN1) P L 480 rs80356694 Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26311 P35523 (CLCN1) G R 482 rs746125212 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26312 P35523 (CLCN1) F L 484 rs1312002847 Disease: Myotonia congenita, autosomal dominant (MCAD) [MIM:160800]
26313 P35523 (CLCN1) M V 485 rs146457619 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26314 P35523 (CLCN1) R S 496 rs121912801 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26315 P35523 (CLCN1) G R 499 rs121912807 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26316 P35523 (CLCN1) Q R 552 rs80356696 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26317 P35523 (CLCN1) I N 556 rs80356697 Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26318 P35523 (CLCN1) V I 563 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26319 P35523 (CLCN1) K N 614 rs140205115 Benign
26320 P35523 (CLCN1) V G 640 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26321 P35523 (CLCN1) F L 708 - Disease: Myotonia congenita, autosomal recessive (MCAR) [MIM:255700]
26322 P35523 (CLCN1) P L 727 rs13438232 Benign
26323 P35527 (KRT9) M K 157 rs59510579 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26324 P35527 (KRT9) M R 157 rs59510579 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26325 P35527 (KRT9) M T 157 rs59510579 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26326 P35527 (KRT9) M V 157 rs58597584 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26327 P35527 (KRT9) L F 160 rs28940896 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26328 P35527 (KRT9) L V 160 rs28940896 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26329 P35527 (KRT9) N H 161 rs59296273 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26330 P35527 (KRT9) N I 161 rs56707768 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26331 P35527 (KRT9) N K 161 rs57536312 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26332 P35527 (KRT9) N S 161 rs56707768 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26333 P35527 (KRT9) N Y 161 rs59296273 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26334 P35527 (KRT9) R P 163 rs57758262 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26335 P35527 (KRT9) R Q 163 rs57758262 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26336 P35527 (KRT9) R W 163 rs59616921 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26337 P35527 (KRT9) L S 168 rs61157095 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26338 P35527 (KRT9) V M 171 rs57019720 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26339 P35527 (KRT9) Q P 172 rs59878153 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26340 P35527 (KRT9) C R 406 rs77688767 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26341 P35527 (KRT9) Y H 454 rs267607420 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26342 P35527 (KRT9) L F 458 rs58120120 Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26343 P35527 (KRT9) L P 458 - Disease: Keratoderma, palmoplantar , epidermolyti c (EPPK) [MIM:144200]
26344 P35542 (SAA4) C Y 89 rs2460827 Benign
26345 P35544 (FAU) T I 53 rs13807 Benign
26346 P35548 (MSX2) M T 129 rs4242182 Benign
26347 P35548 (MSX2) P H 148 rs104893895 Disease: Craniosynost osis 2 (CRS2) [MIM:604757]
26348 P35548 (MSX2) P L 148 rs104893895 Disease: Craniosynost osis 2 (CRS2) [MIM:604757]
26349 P35548 (MSX2) L P 154 - Disease: Parietal foramina 1 (PFM1) [MIM:168500]
26350 P35548 (MSX2) R H 172 rs104893896 Disease: Parietal foramina 1 (PFM1) [MIM:168500]
26351 P35555 (FBN1) Y C 20 - Disease: Marfan syndrome (MFS) [MIM:154700]
26352 P35555 (FBN1) A T 27 rs25397 Benign
26353 P35555 (FBN1) A P 39 - Disease: -
26354 P35555 (FBN1) G E 55 - Disease: Marfan syndrome (MFS) [MIM:154700]
26355 P35555 (FBN1) N D 57 - Disease: Marfan syndrome (MFS) [MIM:154700]
26356 P35555 (FBN1) R C 62 rs25403 Disease: Marfan syndrome (MFS) [MIM:154700]
26357 P35555 (FBN1) Y C 63 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26358 P35555 (FBN1) C S 68 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26359 P35555 (FBN1) C G 80 - Disease: Marfan syndrome (MFS) [MIM:154700]
26360 P35555 (FBN1) C F 89 rs112660651 Disease: Marfan syndrome (MFS) [MIM:154700]
26361 P35555 (FBN1) C Y 100 - Disease: Marfan syndrome (MFS) [MIM:154700]
26362 P35555 (FBN1) C R 111 - Disease: Marfan syndrome (MFS) [MIM:154700]
26363 P35555 (FBN1) R C 114 - Disease: Marfan syndrome (MFS) [MIM:154700]
26364 P35555 (FBN1) S C 115 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26365 P35555 (FBN1) R C 122 rs137854467 Disease: Marfan syndrome (MFS) [MIM:154700]
26366 P35555 (FBN1) C Y 123 - Disease: Marfan syndrome (MFS) [MIM:154700]
26367 P35555 (FBN1) G D 127 - Disease: -
26368 P35555 (FBN1) C Y 129 - Disease: Marfan syndrome (MFS) [MIM:154700]
26369 P35555 (FBN1) H Q 133 rs363850 Benign
26370 P35555 (FBN1) C S 136 - Disease: Marfan syndrome (MFS) [MIM:154700]
26371 P35555 (FBN1) C S 154 - Disease: Marfan syndrome (MFS) [MIM:154700]
26372 P35555 (FBN1) C R 160 - Disease: -
26373 P35555 (FBN1) N S 164 - Disease: -
26374 P35555 (FBN1) C F 166 - Disease: Marfan syndrome (MFS) [MIM:154700]
26375 P35555 (FBN1) C S 166 - Disease: Marfan syndrome (MFS) [MIM:154700]
26376 P35555 (FBN1) C R 177 rs363853 Disease: Marfan syndrome (MFS) [MIM:154700]
26377 P35555 (FBN1) C S 177 - Disease: Marfan syndrome (MFS) [MIM:154700]
26378 P35555 (FBN1) C Y 177 - Disease: Marfan syndrome (MFS) [MIM:154700]
26379 P35555 (FBN1) G S 214 - Disease: Marfan syndrome (MFS) [MIM:154700]
26380 P35555 (FBN1) W G 217 - Disease: Marfan syndrome (MFS) [MIM:154700]
26381 P35555 (FBN1) H Q 219 - Disease: Marfan syndrome (MFS) [MIM:154700]
26382 P35555 (FBN1) C R 224 - Disease: Marfan syndrome (MFS) [MIM:154700]
26383 P35555 (FBN1) R C 240 rs137854480 Disease: Marfan syndrome (MFS) [MIM:154700]
26384 P35555 (FBN1) I T 329 rs12324002 Benign
26385 P35555 (FBN1) G S 363 rs363855 Benign
26386 P35555 (FBN1) C R 365 - Disease: Marfan syndrome (MFS) [MIM:154700]
26387 P35555 (FBN1) C W 365 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26388 P35555 (FBN1) W C 366 - Disease: Marfan syndrome (MFS) [MIM:154700]
26389 P35555 (FBN1) R G 439 - Disease: Marfan syndrome (MFS) [MIM:154700]
26390 P35555 (FBN1) V I 449 - Disease: Marfan syndrome (MFS) [MIM:154700]
26391 P35555 (FBN1) Y C 472 rs4775765 Benign
26392 P35555 (FBN1) C W 474 - Disease: Marfan syndrome (MFS) [MIM:154700]
26393 P35555 (FBN1) C G 476 - Disease: Marfan syndrome (MFS) [MIM:154700]
26394 P35555 (FBN1) C R 488 - Disease: Marfan syndrome (MFS) [MIM:154700]
26395 P35555 (FBN1) D Y 490 - Disease: Marfan syndrome (MFS) [MIM:154700]
26396 P35555 (FBN1) C Y 499 - Disease: Marfan syndrome (MFS) [MIM:154700]
26397 P35555 (FBN1) C F 504 - Disease: Marfan syndrome (MFS) [MIM:154700]
26398 P35555 (FBN1) C R 504 - Disease: -
26399 P35555 (FBN1) C Y 541 - Disease: Marfan syndrome (MFS) [MIM:154700]
26400 P35555 (FBN1) R C 545 - Disease: Marfan syndrome (MFS) [MIM:154700]
26401 P35555 (FBN1) C W 546 - Disease: Marfan syndrome (MFS) [MIM:154700]
26402 P35555 (FBN1) N I 548 rs137854462 Disease: Marfan syndrome (MFS) [MIM:154700]
26403 P35555 (FBN1) G S 560 - Disease: Marfan syndrome (MFS) [MIM:154700]
26404 P35555 (FBN1) C Y 570 - Disease: Marfan syndrome (MFS) [MIM:154700]
26405 P35555 (FBN1) C Y 576 - Disease: Marfan syndrome (MFS) [MIM:154700]
26406 P35555 (FBN1) C R 582 - Disease: Marfan syndrome (MFS) [MIM:154700]
26407 P35555 (FBN1) C Y 587 - Disease: Marfan syndrome (MFS) [MIM:154700]
26408 P35555 (FBN1) G D 592 - Disease: Marfan syndrome (MFS) [MIM:154700]
26409 P35555 (FBN1) C R 596 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26410 P35555 (FBN1) C Y 596 - Disease: Marfan syndrome (MFS) [MIM:154700]
26411 P35555 (FBN1) C W 598 - Disease: Marfan syndrome (MFS) [MIM:154700]
26412 P35555 (FBN1) C R 611 - Disease: Marfan syndrome (MFS) [MIM:154700]
26413 P35555 (FBN1) C G 617 - Disease: Marfan syndrome (MFS) [MIM:154700]
26414 P35555 (FBN1) C F 623 - Disease: Marfan syndrome (MFS) [MIM:154700]
26415 P35555 (FBN1) R C 627 - Disease: Marfan syndrome (MFS) [MIM:154700]
26416 P35555 (FBN1) S P 634 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26417 P35555 (FBN1) Y C 635 - Disease: Marfan syndrome (MFS) [MIM:154700]
26418 P35555 (FBN1) R I 636 - Disease: Marfan syndrome (MFS) [MIM:154700]
26419 P35555 (FBN1) C S 652 - Disease: Marfan syndrome (MFS) [MIM:154700]
26420 P35555 (FBN1) C Y 652 - Disease: -
26421 P35555 (FBN1) D N 654 - Disease: Marfan syndrome (MFS) [MIM:154700]
26422 P35555 (FBN1) C R 661 - Disease: Marfan syndrome (MFS) [MIM:154700]
26423 P35555 (FBN1) C Y 661 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26424 P35555 (FBN1) S Y 681 - Disease: Marfan syndrome (MFS) [MIM:154700]
26425 P35555 (FBN1) C R 683 - Disease: Marfan syndrome (MFS) [MIM:154700]
26426 P35555 (FBN1) C Y 684 - Disease: Marfan syndrome (MFS) [MIM:154700]
26427 P35555 (FBN1) C W 685 rs140603 Disease: Marfan syndrome (MFS) [MIM:154700]
26428 P35555 (FBN1) C Y 685 - Disease: Marfan syndrome (MFS) [MIM:154700]
26429 P35555 (FBN1) C S 699 - Disease: Marfan syndrome (MFS) [MIM:154700]
26430 P35555 (FBN1) A T 705 - Disease: Marfan syndrome (MFS) [MIM:154700]
26431 P35555 (FBN1) C Y 711 - Disease: Marfan syndrome (MFS) [MIM:154700]
26432 P35555 (FBN1) G C 721 - Disease: Marfan syndrome (MFS) [MIM:154700]
26433 P35555 (FBN1) D A 723 rs137854463 Disease: Marfan syndrome (MFS) [MIM:154700]
26434 P35555 (FBN1) D V 723 - Disease: Marfan syndrome (MFS) [MIM:154700]
26435 P35555 (FBN1) C Y 727 - Disease: Marfan syndrome (MFS) [MIM:154700]
26436 P35555 (FBN1) C F 734 - Disease: Marfan syndrome (MFS) [MIM:154700]
26437 P35555 (FBN1) Y C 746 - Disease: Marfan syndrome (MFS) [MIM:154700]
26438 P35555 (FBN1) C Y 748 - Disease: Marfan syndrome (MFS) [MIM:154700]
26439 P35555 (FBN1) C G 750 - Disease: Marfan syndrome (MFS) [MIM:154700]
26440 P35555 (FBN1) C G 776 - Disease: Marfan syndrome (MFS) [MIM:154700]
26441 P35555 (FBN1) C Y 776 - Disease: Marfan syndrome (MFS) [MIM:154700]
26442 P35555 (FBN1) C R 781 - Disease: Marfan syndrome (MFS) [MIM:154700]
26443 P35555 (FBN1) C Y 781 - Disease: Marfan syndrome (MFS) [MIM:154700]
26444 P35555 (FBN1) C Y 790 - Disease: Marfan syndrome (MFS) [MIM:154700]
26445 P35555 (FBN1) C Y 811 - Disease: Marfan syndrome (MFS) [MIM:154700]
26446 P35555 (FBN1) C R 816 - Disease: Marfan syndrome (MFS) [MIM:154700]
26447 P35555 (FBN1) C S 816 - Disease: Marfan syndrome (MFS) [MIM:154700]
26448 P35555 (FBN1) F C 828 - Disease: Marfan syndrome (MFS) [MIM:154700]
26449 P35555 (FBN1) C Y 832 - Disease: Marfan syndrome (MFS) [MIM:154700]
26450 P35555 (FBN1) C S 853 - Disease: Marfan syndrome (MFS) [MIM:154700]
26451 P35555 (FBN1) C R 862 - Disease: Marfan syndrome (MFS) [MIM:154700]
26452 P35555 (FBN1) G S 880 - Disease: Marfan syndrome (MFS) [MIM:154700]
26453 P35555 (FBN1) A V 882 - Disease: Marfan syndrome (MFS) [MIM:154700]
26454 P35555 (FBN1) G E 884 - Disease: Marfan syndrome (MFS) [MIM:154700]
26455 P35555 (FBN1) C G 890 - Disease: Marfan syndrome (MFS) [MIM:154700]
26456 P35555 (FBN1) C R 890 - Disease: Marfan syndrome (MFS) [MIM:154700]
26457 P35555 (FBN1) C R 908 - Disease: Marfan syndrome (MFS) [MIM:154700]
26458 P35555 (FBN1) C Y 908 - Disease: Marfan syndrome (MFS) [MIM:154700]
26459 P35555 (FBN1) D H 910 - Disease: Marfan syndrome (MFS) [MIM:154700]
26460 P35555 (FBN1) E G 913 - Disease: Marfan syndrome (MFS) [MIM:154700]
26461 P35555 (FBN1) C G 921 - Disease: Marfan syndrome (MFS) [MIM:154700]
26462 P35555 (FBN1) C R 926 - Disease: Marfan syndrome (MFS) [MIM:154700]
26463 P35555 (FBN1) C Y 926 - Disease: Marfan syndrome (MFS) [MIM:154700]
26464 P35555 (FBN1) C R 937 - Disease: -
26465 P35555 (FBN1) R C 954 - Disease: -
26466 P35555 (FBN1) R C 974 - Disease: Marfan syndrome (MFS) [MIM:154700]
26467 P35555 (FBN1) R H 976 - Disease: Marfan syndrome (MFS) [MIM:154700]
26468 P35555 (FBN1) V I 984 - Disease: Marfan syndrome (MFS) [MIM:154700]
26469 P35555 (FBN1) G E 985 rs137854477 Disease: Marfan syndrome (MFS) [MIM:154700]
26470 P35555 (FBN1) G R 985 - Disease: Marfan syndrome (MFS) [MIM:154700]
26471 P35555 (FBN1) C R 996 rs140592 Disease: Marfan syndrome (MFS) [MIM:154700]
26472 P35555 (FBN1) C Y 1008 - Disease: Marfan syndrome (MFS) [MIM:154700]
26473 P35555 (FBN1) G R 1013 rs140593 Disease: Marfan syndrome (MFS) [MIM:154700]
26474 P35555 (FBN1) T A 1020 - Disease: -
26475 P35555 (FBN1) K N 1023 - Disease: Marfan syndrome (MFS) [MIM:154700]
26476 P35555 (FBN1) D G 1028 - Disease: -
26477 P35555 (FBN1) C Y 1032 - Disease: Marfan syndrome (MFS) [MIM:154700]
26478 P35555 (FBN1) G S 1042 - Disease: Marfan syndrome (MFS) [MIM:154700]
26479 P35555 (FBN1) K R 1043 rs137854472 Disease: Marfan syndrome (MFS) [MIM:154700]
26480 P35555 (FBN1) C Y 1044 - Disease: Marfan syndrome (MFS) [MIM:154700]
26481 P35555 (FBN1) I V 1048 rs2229324 Benign
26482 P35555 (FBN1) I T 1048 - Disease: Marfan syndrome (MFS) [MIM:154700]
26483 P35555 (FBN1) C R 1053 - Disease: Marfan syndrome (MFS) [MIM:154700]
26484 P35555 (FBN1) C G 1055 - Disease: Marfan syndrome (MFS) [MIM:154700]
26485 P35555 (FBN1) C W 1055 - Disease: Marfan syndrome (MFS) [MIM:154700]
26486 P35555 (FBN1) C Y 1055 - Disease: Marfan syndrome (MFS) [MIM:154700]
26487 P35555 (FBN1) G D 1058 - Disease: Marfan syndrome (MFS) [MIM:154700]
26488 P35555 (FBN1) C G 1068 - Disease: Marfan syndrome (MFS) [MIM:154700]
26489 P35555 (FBN1) D G 1072 - Disease: Marfan syndrome (MFS) [MIM:154700]
26490 P35555 (FBN1) E K 1073 rs137854478 Disease: Marfan syndrome (MFS) [MIM:154700]
26491 P35555 (FBN1) C R 1074 rs137854465 Disease: Marfan syndrome (MFS) [MIM:154700]
26492 P35555 (FBN1) C Y 1074 - Disease: Marfan syndrome (MFS) [MIM:154700]
26493 P35555 (FBN1) C W 1086 - Disease: Marfan syndrome (MFS) [MIM:154700]
26494 P35555 (FBN1) N I 1088 - Disease: Marfan syndrome (MFS) [MIM:154700]
26495 P35555 (FBN1) P S 1090 - Disease: Marfan syndrome (MFS) [MIM:154700]
26496 P35555 (FBN1) Y C 1101 - Disease: Marfan syndrome (MFS) [MIM:154700]
26497 P35555 (FBN1) D G 1113 rs140597 Benign
26498 P35555 (FBN1) D V 1113 - Disease: Marfan syndrome (MFS) [MIM:154700]
26499 P35555 (FBN1) C G 1117 - Disease: Marfan syndrome (MFS) [MIM:154700]
26500 P35555 (FBN1) C R 1117 - Disease: Marfan syndrome (MFS) [MIM:154700]
26501 P35555 (FBN1) C Y 1117 rs137854470 Disease: Marfan syndrome (MFS) [MIM:154700]
26502 P35555 (FBN1) G S 1127 rs137854468 Disease: Marfan syndrome (MFS) [MIM:154700]
26503 P35555 (FBN1) C Y 1129 rs137854482 Disease: Marfan syndrome (MFS) [MIM:154700]
26504 P35555 (FBN1) H P 1130 - Disease: Marfan syndrome (MFS) [MIM:154700]
26505 P35555 (FBN1) N Y 1131 rs137854473 Benign
26506 P35555 (FBN1) R P 1137 rs137854456 Disease: Marfan syndrome (MFS) [MIM:154700]
26507 P35555 (FBN1) C Y 1138 - Disease: Marfan syndrome (MFS) [MIM:154700]
26508 P35555 (FBN1) P A 1148 rs140598 Benign
26509 P35555 (FBN1) C S 1153 - Disease: Marfan syndrome (MFS) [MIM:154700]
26510 P35555 (FBN1) C Y 1153 rs140599 Disease: Marfan syndrome (MFS) [MIM:154700]
26511 P35555 (FBN1) D N 1155 - Disease: Marfan syndrome (MFS) [MIM:154700]
26512 P35555 (FBN1) E G 1158 - Disease: Marfan syndrome (MFS) [MIM:154700]
26513 P35555 (FBN1) R H 1170 rs137854475 Disease: Marfan syndrome (MFS) [MIM:154700]
26514 P35555 (FBN1) C W 1171 - Disease: Marfan syndrome (MFS) [MIM:154700]
26515 P35555 (FBN1) N K 1173 - Disease: Marfan syndrome (MFS) [MIM:154700]
26516 P35555 (FBN1) C W 1182 - Disease: Marfan syndrome (MFS) [MIM:154700]
26517 P35555 (FBN1) G D 1185 - Disease: Marfan syndrome (MFS) [MIM:154700]
26518 P35555 (FBN1) D A 1199 - Disease: Marfan syndrome (MFS) [MIM:154700]
26519 P35555 (FBN1) E G 1200 - Disease: Marfan syndrome (MFS) [MIM:154700]
26520 P35555 (FBN1) Y C 1219 - Disease: Marfan syndrome (MFS) [MIM:154700]
26521 P35555 (FBN1) C R 1223 - Disease: Marfan syndrome (MFS) [MIM:154700]
26522 P35555 (FBN1) C Y 1223 rs137854469 Disease: Marfan syndrome (MFS) [MIM:154700]
26523 P35555 (FBN1) C Y 1242 rs137854471 Disease: Marfan syndrome (MFS) [MIM:154700]
26524 P35555 (FBN1) C R 1249 - Disease: Marfan syndrome (MFS) [MIM:154700]
26525 P35555 (FBN1) C S 1249 rs137854458 Disease: Marfan syndrome (MFS) [MIM:154700]
26526 P35555 (FBN1) Y C 1261 - Disease: Marfan syndrome (MFS) [MIM:154700]
26527 P35555 (FBN1) Y D 1261 - Disease: Marfan syndrome (MFS) [MIM:154700]
26528 P35555 (FBN1) C R 1265 rs137854474 Disease: Marfan syndrome (MFS) [MIM:154700]
26529 P35555 (FBN1) C Y 1265 - Disease: Marfan syndrome (MFS) [MIM:154700]
26530 P35555 (FBN1) C S 1278 - Disease: Marfan syndrome (MFS) [MIM:154700]
26531 P35555 (FBN1) N S 1282 rs140647 Benign
26532 P35555 (FBN1) C G 1284 - Disease: Marfan syndrome (MFS) [MIM:154700]
26533 P35555 (FBN1) C Y 1284 - Disease: Marfan syndrome (MFS) [MIM:154700]
26534 P35555 (FBN1) C Y 1307 - Disease: Marfan syndrome (MFS) [MIM:154700]
26535 P35555 (FBN1) C R 1320 - Disease: Marfan syndrome (MFS) [MIM:154700]
26536 P35555 (FBN1) E Q 1325 - Disease: Marfan syndrome (MFS) [MIM:154700]
26537 P35555 (FBN1) C R 1326 - Disease: Marfan syndrome (MFS) [MIM:154700]
26538 P35555 (FBN1) C S 1333 - Disease: Marfan syndrome (MFS) [MIM:154700]
26539 P35555 (FBN1) A P 1337 - Disease: Marfan syndrome (MFS) [MIM:154700]
26540 P35555 (FBN1) C Y 1339 - Disease: Marfan syndrome (MFS) [MIM:154700]
26541 P35555 (FBN1) F L 1346 - Disease: Marfan syndrome (MFS) [MIM:154700]
26542 P35555 (FBN1) C F 1350 - Disease: Marfan syndrome (MFS) [MIM:154700]
26543 P35555 (FBN1) E K 1366 - Disease: Marfan syndrome (MFS) [MIM:154700]
26544 P35555 (FBN1) C S 1374 - Disease: Marfan syndrome (MFS) [MIM:154700]
26545 P35555 (FBN1) N S 1382 - Disease: Marfan syndrome (MFS) [MIM:154700]
26546 P35555 (FBN1) C R 1389 - Disease: Marfan syndrome (MFS) [MIM:154700]
26547 P35555 (FBN1) T A 1401 - Disease: Marfan syndrome (MFS) [MIM:154700]
26548 P35555 (FBN1) C R 1402 - Disease: Marfan syndrome (MFS) [MIM:154700]
26549 P35555 (FBN1) C Y 1402 - Disease: Marfan syndrome (MFS) [MIM:154700]
26550 P35555 (FBN1) D Y 1404 - Disease: Marfan syndrome (MFS) [MIM:154700]
26551 P35555 (FBN1) D G 1406 - Disease: -
26552 P35555 (FBN1) P A 1424 - Disease: Marfan syndrome (MFS) [MIM:154700]
26553 P35555 (FBN1) P S 1424 - Disease: Marfan syndrome (MFS) [MIM:154700]
26554 P35555 (FBN1) Y D 1427 - Disease: Marfan syndrome (MFS) [MIM:154700]
26555 P35555 (FBN1) C S 1429 - Disease: Marfan syndrome (MFS) [MIM:154700]
26556 P35555 (FBN1) C W 1431 rs112375043 Disease: Marfan syndrome (MFS) [MIM:154700]
26557 P35555 (FBN1) C Y 1431 - Disease: Marfan syndrome (MFS) [MIM:154700]
26558 P35555 (FBN1) G E 1475 - Disease: Marfan syndrome (MFS) [MIM:154700]
26559 P35555 (FBN1) G S 1475 - Disease: Marfan syndrome (MFS) [MIM:154700]
26560 P35555 (FBN1) S G 1481 rs61730054 Benign
26561 P35555 (FBN1) C R 1485 - Disease: Marfan syndrome (MFS) [MIM:154700]
26562 P35555 (FBN1) D A 1487 - Disease: Marfan syndrome (MFS) [MIM:154700]
26563 P35555 (FBN1) N K 1489 - Disease: Marfan syndrome (MFS) [MIM:154700]
26564 P35555 (FBN1) C R 1513 - Disease: Marfan syndrome (MFS) [MIM:154700]
26565 P35555 (FBN1) D Y 1528 - Disease: Marfan syndrome (MFS) [MIM:154700]
26566 P35555 (FBN1) R C 1530 rs111401431 Disease: Marfan syndrome (MFS) [MIM:154700]
26567 P35555 (FBN1) C F 1564 - Disease: Marfan syndrome (MFS) [MIM:154700]
26568 P35555 (FBN1) C S 1564 - Disease: Stiff skin syndrome (SSKS) [MIM:184900]
26569 P35555 (FBN1) C Y 1564 - Disease: Marfan syndrome (MFS) [MIM:154700]
26570 P35555 (FBN1) W C 1570 - Disease: Stiff skin syndrome (SSKS) [MIM:184900]
26571 P35555 (FBN1) M T 1576 - Disease: Marfan syndrome (MFS) [MIM:154700]
26572 P35555 (FBN1) C G 1577 - Disease: Stiff skin syndrome (SSKS) [MIM:184900]
26573 P35555 (FBN1) C F 1589 - Disease: Marfan syndrome (MFS) [MIM:154700]
26574 P35555 (FBN1) G D 1594 - Disease: Stiff skin syndrome (SSKS) [MIM:184900]
26575 P35555 (FBN1) C G 1610 - Disease: Marfan syndrome (MFS) [MIM:154700]
26576 P35555 (FBN1) C R 1622 - Disease: Marfan syndrome (MFS) [MIM:154700]
26577 P35555 (FBN1) C G 1631 - Disease: Marfan syndrome (MFS) [MIM:154700]
26578 P35555 (FBN1) C S 1633 - Disease: -
26579 P35555 (FBN1) D G 1642 - Disease: Marfan syndrome (MFS) [MIM:154700]
26580 P35555 (FBN1) C R 1663 rs137854459 Disease: Marfan syndrome (MFS) [MIM:154700]
26581 P35555 (FBN1) C Y 1663 - Disease: Marfan syndrome (MFS) [MIM:154700]
26582 P35555 (FBN1) C F 1672 rs140627 Benign
26583 P35555 (FBN1) C R 1672 - Disease: Marfan syndrome (MFS) [MIM:154700]
26584 P35555 (FBN1) C Y 1672 - Disease: Marfan syndrome (MFS) [MIM:154700]
26585 P35555 (FBN1) C G 1674 - Disease: Marfan syndrome (MFS) [MIM:154700]
26586 P35555 (FBN1) Y C 1696 - Disease: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
26587 P35555 (FBN1) Y C 1699 - Disease: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
26588 P35555 (FBN1) Y D 1699 - Disease: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
26589 P35555 (FBN1) Y C 1700 - Disease: Acromicric dysplasia (ACMICD) [MIM:102370]
26590 P35555 (FBN1) C Y 1706 - Disease: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
26591 P35555 (FBN1) M R 1714 - Disease: Acromicric dysplasia (ACMICD) [MIM:102370]
26592 P35555 (FBN1) C W 1719 - Disease: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
26593 P35555 (FBN1) C Y 1720 - Disease: Marfan syndrome (MFS) [MIM:154700]
26594 P35555 (FBN1) S C 1722 - Disease: Acromicric dysplasia (ACMICD) [MIM:102370]
26595 P35555 (FBN1) G V 1726 - Disease: Acromicric dysplasia (ACMICD) [MIM:102370]
26596 P35555 (FBN1) A T 1728 - Disease: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
26597 P35555 (FBN1) A V 1728 - Disease: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
26598 P35555 (FBN1) C Y 1733 - Disease: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
26599 P35555 (FBN1) S R 1750 - Disease: Acromicric dysplasia (ACMICD) [MIM:102370]
26600 P35555 (FBN1) D V 1758 - Disease: Acromicric dysplasia (ACMICD) [MIM:102370]
26601 P35555 (FBN1) G S 1762 - Disease: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]
26602 P35555 (FBN1) C F 1770 - Disease: Marfan syndrome (MFS) [MIM:154700]
26603 P35555 (FBN1) C F 1777 - Disease: -
26604 P35555 (FBN1) R P 1790 - Disease: Marfan syndrome (MFS) [MIM:154700]
26605 P35555 (FBN1) C R 1791 - Disease: Marfan syndrome (MFS) [MIM:154700]
26606 P35555 (FBN1) C Y 1791 - Disease: Marfan syndrome (MFS) [MIM:154700]
26607 P35555 (FBN1) C W 1793 - Disease: Marfan syndrome (MFS) [MIM:154700]
26608 P35555 (FBN1) C Y 1793 - Disease: Marfan syndrome (MFS) [MIM:154700]
26609 P35555 (FBN1) G E 1796 - Disease: Marfan syndrome (MFS) [MIM:154700]
26610 P35555 (FBN1) G V 1796 - Disease: Marfan syndrome (MFS) [MIM:154700]
26611 P35555 (FBN1) C S 1806 - Disease: Marfan syndrome (MFS) [MIM:154700]
26612 P35555 (FBN1) C Y 1806 - Disease: Marfan syndrome (MFS) [MIM:154700]
26613 P35555 (FBN1) E K 1811 - Disease: Marfan syndrome (MFS) [MIM:154700]
26614 P35555 (FBN1) C R 1812 - Disease: Marfan syndrome (MFS) [MIM:154700]
26615 P35555 (FBN1) C Y 1812 - Disease: -
26616 P35555 (FBN1) N S 1826 - Disease: Marfan syndrome (MFS) [MIM:154700]
26617 P35555 (FBN1) S C 1830 - Disease: Marfan syndrome (MFS) [MIM:154700]
26618 P35555 (FBN1) C S 1833 - Disease: Marfan syndrome (MFS) [MIM:154700]
26619 P35555 (FBN1) C F 1835 - Disease: Marfan syndrome (MFS) [MIM:154700]
26620 P35555 (FBN1) C Y 1835 rs111929350 Disease: Marfan syndrome (MFS) [MIM:154700]
26621 P35555 (FBN1) P S 1837 - Disease: Marfan syndrome (MFS) [MIM:154700]
26622 P35555 (FBN1) G C 1838 - Disease: Marfan syndrome (MFS) [MIM:154700]
26623 P35555 (FBN1) C R 1847 - Disease: Marfan syndrome (MFS) [MIM:154700]
26624 P35555 (FBN1) C W 1847 - Disease: Marfan syndrome (MFS) [MIM:154700]
26625 P35555 (FBN1) C Y 1860 - Disease: Marfan syndrome (MFS) [MIM:154700]
26626 P35555 (FBN1) C R 1865 - Disease: Marfan syndrome (MFS) [MIM:154700]
26627 P35555 (FBN1) C Y 1876 rs112728248 Disease: Marfan syndrome (MFS) [MIM:154700]
26628 P35555 (FBN1) G D 1879 - Disease: Marfan syndrome (MFS) [MIM:154700]
26629 P35555 (FBN1) T I 1887 - Disease: Marfan syndrome (MFS) [MIM:154700]
26630 P35555 (FBN1) N K 1893 - Disease: Marfan syndrome (MFS) [MIM:154700]
26631 P35555 (FBN1) E K 1894 - Disease: Marfan syndrome (MFS) [MIM:154700]
26632 P35555 (FBN1) C R 1895 - Disease: Marfan syndrome (MFS) [MIM:154700]
26633 P35555 (FBN1) C Y 1900 - Disease: Marfan syndrome (MFS) [MIM:154700]
26634 P35555 (FBN1) N S 1907 - Disease: -
26635 P35555 (FBN1) T I 1908 - Disease: Marfan syndrome (MFS) [MIM:154700]
26636 P35555 (FBN1) I T 1909 - Disease: Marfan syndrome (MFS) [MIM:154700]
26637 P35555 (FBN1) R S 1915 - Disease: Marfan syndrome (MFS) [MIM:154700]
26638 P35555 (FBN1) G D 1919 - Disease: Marfan syndrome (MFS) [MIM:154700]
26639 P35555 (FBN1) C G 1928 - Disease: Marfan syndrome (MFS) [MIM:154700]
26640 P35555 (FBN1) C R 1928 - Disease: Marfan syndrome (MFS) [MIM:154700]
26641 P35555 (FBN1) C Y 1928 - Disease: Marfan syndrome (MFS) [MIM:154700]
26642 P35555 (FBN1) D H 1930 - Disease: -
26643 P35555 (FBN1) C G 1934 - Disease: Marfan syndrome (MFS) [MIM:154700]
26644 P35555 (FBN1) C S 1934 - Disease: Marfan syndrome (MFS) [MIM:154700]
26645 P35555 (FBN1) C Y 1971 - Disease: Marfan syndrome (MFS) [MIM:154700]
26646 P35555 (FBN1) E G 1976 - Disease: Marfan syndrome (MFS) [MIM:154700]
26647 P35555 (FBN1) C R 1977 - Disease: Marfan syndrome (MFS) [MIM:154700]
26648 P35555 (FBN1) C W 1977 - Disease: Marfan syndrome (MFS) [MIM:154700]
26649 P35555 (FBN1) C Y 1977 - Disease: Marfan syndrome (MFS) [MIM:154700]
26650 P35555 (FBN1) C R 1984 - Disease: Marfan syndrome (MFS) [MIM:154700]
26651 P35555 (FBN1) G R 1987 - Disease: Marfan syndrome (MFS) [MIM:154700]
26652 P35555 (FBN1) C Y 1998 - Disease: Marfan syndrome (MFS) [MIM:154700]
26653 P35555 (FBN1) V I 2018 rs363802 Benign
26654 P35555 (FBN1) C Y 2038 rs363804 Disease: Marfan syndrome (MFS) [MIM:154700]
26655 P35555 (FBN1) C F 2053 rs363805 Benign
26656 P35555 (FBN1) C W 2084 - Disease: Marfan syndrome (MFS) [MIM:154700]
26657 P35555 (FBN1) C Y 2084 - Disease: Marfan syndrome (MFS) [MIM:154700]
26658 P35555 (FBN1) C R 2085 - Disease: Marfan syndrome (MFS) [MIM:154700]
26659 P35555 (FBN1) C W 2099 - Disease: Marfan syndrome (MFS) [MIM:154700]
26660 P35555 (FBN1) T M 2101 rs200816828 Benign
26661 P35555 (FBN1) E K 2105 - Disease: -
26662 P35555 (FBN1) C R 2111 rs363815 Disease: Marfan syndrome (MFS) [MIM:154700]
26663 P35555 (FBN1) C Y 2111 - Disease: Marfan syndrome (MFS) [MIM:154700]
26664 P35555 (FBN1) Y F 2113 rs363816 Benign
26665 P35555 (FBN1) I M 2118 - Disease: Marfan syndrome (MFS) [MIM:154700]
26666 P35555 (FBN1) D E 2127 - Disease: Marfan syndrome (MFS) [MIM:154700]
26667 P35555 (FBN1) E K 2130 - Disease: Marfan syndrome (MFS) [MIM:154700]
26668 P35555 (FBN1) V D 2136 - Disease: -
26669 P35555 (FBN1) C Y 2142 - Disease: Marfan syndrome (MFS) [MIM:154700]
26670 P35555 (FBN1) N D 2144 - Disease: Marfan syndrome (MFS) [MIM:154700]
26671 P35555 (FBN1) N S 2144 rs137854461 Disease: Marfan syndrome (MFS) [MIM:154700]
26672 P35555 (FBN1) T P 2145 - Disease: Marfan syndrome (MFS) [MIM:154700]
26673 P35555 (FBN1) C W 2151 - Disease: Marfan syndrome (MFS) [MIM:154700]
26674 P35555 (FBN1) C Y 2153 - Disease: Marfan syndrome (MFS) [MIM:154700]
26675 P35555 (FBN1) P R 2154 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26676 P35555 (FBN1) A P 2160 - Disease: Marfan syndrome (MFS) [MIM:154700]
26677 P35555 (FBN1) D N 2166 - Disease: Marfan syndrome (MFS) [MIM:154700]
26678 P35555 (FBN1) C F 2170 rs363821 Benign
26679 P35555 (FBN1) I T 2185 - Disease: Marfan syndrome (MFS) [MIM:154700]
26680 P35555 (FBN1) G R 2195 - Disease: -
26681 P35555 (FBN1) C F 2221 - Disease: Marfan syndrome (MFS) [MIM:154700]
26682 P35555 (FBN1) C G 2221 - Disease: Marfan syndrome (MFS) [MIM:154700]
26683 P35555 (FBN1) C R 2221 - Disease: Marfan syndrome (MFS) [MIM:154700]
26684 P35555 (FBN1) C S 2221 rs137854460 Disease: Marfan syndrome (MFS) [MIM:154700]
26685 P35555 (FBN1) N H 2223 - Disease: Marfan syndrome (MFS) [MIM:154700]
26686 P35555 (FBN1) T P 2224 - Disease: -
26687 P35555 (FBN1) C Y 2232 - Disease: Marfan syndrome (MFS) [MIM:154700]
26688 P35555 (FBN1) V M 2234 - Disease: -
26689 P35555 (FBN1) D G 2247 - Disease: Marfan syndrome (MFS) [MIM:154700]
26690 P35555 (FBN1) E G 2250 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26691 P35555 (FBN1) C R 2251 rs112836174 Disease: Marfan syndrome (MFS) [MIM:154700]
26692 P35555 (FBN1) C R 2258 - Disease: Marfan syndrome (MFS) [MIM:154700]
26693 P35555 (FBN1) C Y 2258 - Disease: Marfan syndrome (MFS) [MIM:154700]
26694 P35555 (FBN1) I T 2269 - Disease: Marfan syndrome (MFS) [MIM:154700]
26695 P35555 (FBN1) Y C 2272 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26696 P35555 (FBN1) M T 2273 - Disease: -
26697 P35555 (FBN1) C W 2274 - Disease: Marfan syndrome (MFS) [MIM:154700]
26698 P35555 (FBN1) P S 2278 rs363835 Benign
26699 P35555 (FBN1) R W 2282 - Disease: Marfan syndrome (MFS) [MIM:154700]
26700 P35555 (FBN1) P T 2284 - Disease: Marfan syndrome (MFS) [MIM:154700]
26701 P35555 (FBN1) C W 2289 - Disease: -
26702 P35555 (FBN1) C Y 2302 - Disease: -
26703 P35555 (FBN1) C S 2307 rs137854457 Disease: Marfan syndrome (MFS) [MIM:154700]
26704 P35555 (FBN1) C R 2318 rs111588631 Disease: Marfan syndrome (MFS) [MIM:154700]
26705 P35555 (FBN1) D E 2329 rs363831 Benign
26706 P35555 (FBN1) R W 2335 - Disease: Marfan syndrome (MFS) [MIM:154700]
26707 P35555 (FBN1) C Y 2339 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26708 P35555 (FBN1) C Y 2365 - Disease: -
26709 P35555 (FBN1) A T 2385 - Disease: Marfan syndrome (MFS) [MIM:154700]
26710 P35555 (FBN1) C Y 2406 - Disease: Marfan syndrome (MFS) [MIM:154700]
26711 P35555 (FBN1) C S 2442 - Disease: Marfan syndrome (MFS) [MIM:154700]
26712 P35555 (FBN1) C W 2442 - Disease: Marfan syndrome (MFS) [MIM:154700]
26713 P35555 (FBN1) E K 2447 rs137854464 Disease: Marfan syndrome (MFS) [MIM:154700]
26714 P35555 (FBN1) C R 2448 - Disease: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]
26715 P35555 (FBN1) C W 2470 - Disease: -
26716 P35555 (FBN1) C Y 2470 - Disease: Marfan syndrome (MFS) [MIM:154700]
26717 P35555 (FBN1) Y C 2474 - Disease: Marfan syndrome (MFS) [MIM:154700]
26718 P35555 (FBN1) C R 2489 - Disease: Marfan syndrome (MFS) [MIM:154700]
26719 P35555 (FBN1) C R 2500 - Disease: Marfan syndrome (MFS) [MIM:154700]
26720 P35555 (FBN1) C Y 2500 - Disease: Marfan syndrome (MFS) [MIM:154700]
26721 P35555 (FBN1) C R 2511 - Disease: Marfan syndrome (MFS) [MIM:154700]
26722 P35555 (FBN1) T I 2516 - Disease: -
26723 P35555 (FBN1) T M 2520 - Disease: Marfan syndrome (MFS) [MIM:154700]
26724 P35555 (FBN1) C Y 2522 - Disease: Marfan syndrome (MFS) [MIM:154700]
26725 P35555 (FBN1) N S 2526 - Disease: -
26726 P35555 (FBN1) C W 2535 rs113544411 Disease: Marfan syndrome (MFS) [MIM:154700]
26727 P35555 (FBN1) G R 2536 - Disease: Marfan syndrome (MFS) [MIM:154700]
26728 P35555 (FBN1) C F 2541 - Disease: -
26729 P35555 (FBN1) R W 2554 - Disease: -
26730 P35555 (FBN1) G V 2555 - Disease: Marfan syndrome (MFS) [MIM:154700]
26731 P35555 (FBN1) T P 2561 - Disease: Marfan syndrome (MFS) [MIM:154700]
26732 P35555 (FBN1) E K 2570 - Disease: Marfan syndrome (MFS) [MIM:154700]
26733 P35555 (FBN1) C R 2571 - Disease: Marfan syndrome (MFS) [MIM:154700]
26734 P35555 (FBN1) C R 2577 - Disease: Marfan syndrome (MFS) [MIM:154700]
26735 P35555 (FBN1) C Y 2577 - Disease: Marfan syndrome (MFS) [MIM:154700]
26736 P35555 (FBN1) C F 2581 - Disease: Marfan syndrome (MFS) [MIM:154700]
26737 P35555 (FBN1) I T 2585 - Disease: Marfan syndrome (MFS) [MIM:154700]
26738 P35555 (FBN1) C S 2592 - Disease: Marfan syndrome (MFS) [MIM:154700]
26739 P35555 (FBN1) C Y 2605 - Disease: Marfan syndrome (MFS) [MIM:154700]
26740 P35555 (FBN1) E K 2610 rs111984349 Disease: Marfan syndrome (MFS) [MIM:154700]
26741 P35555 (FBN1) H P 2623 - Disease: Marfan syndrome (MFS) [MIM:154700]
26742 P35555 (FBN1) N K 2624 - Disease: Marfan syndrome (MFS) [MIM:154700]
26743 P35555 (FBN1) G R 2627 - Disease: Marfan syndrome (MFS) [MIM:154700]
26744 P35555 (FBN1) Y C 2629 - Disease: Marfan syndrome (MFS) [MIM:154700]
26745 P35555 (FBN1) C R 2646 - Disease: Marfan syndrome (MFS) [MIM:154700]
26746 P35555 (FBN1) C G 2652 - Disease: Marfan syndrome (MFS) [MIM:154700]
26747 P35555 (FBN1) C S 2663 - Disease: Marfan syndrome (MFS) [MIM:154700]
26748 P35555 (FBN1) G C 2668 - Disease: Marfan syndrome (MFS) [MIM:154700]
26749 P35555 (FBN1) R C 2680 - Disease: Marfan syndrome (MFS) [MIM:154700]
26750 P35555 (FBN1) N S 2708 - Disease: Marfan syndrome (MFS) [MIM:154700]
26751 P35555 (FBN1) R W 2726 rs61746008 Disease: -
26752 P35555 (FBN1) I T 2741 - Disease: Marfanoid- progeroid-li podystrophy syndrome (MFLS) [MIM:616914]
26753 P35555 (FBN1) L P 2780 - Disease: -
26754 P35555 (FBN1) Y H 2793 rs113722038 Disease: -
26755 P35556 (FBN2) E K 391 rs137852826 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26756 P35556 (FBN2) T S 594 - Benign
26757 P35556 (FBN2) R H 681 rs548605398 Benign
26758 P35556 (FBN2) G S 754 rs145259927 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26759 P35556 (FBN2) V I 965 rs154001 Benign
26760 P35556 (FBN2) G D 1057 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26761 P35556 (FBN2) N S 1091 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26762 P35556 (FBN2) I T 1093 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26763 P35556 (FBN2) D H 1115 rs137852827 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26764 P35556 (FBN2) S P 1122 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26765 P35556 (FBN2) C F 1142 rs137852828 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26766 P35556 (FBN2) C R 1142 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26767 P35556 (FBN2) E K 1144 rs200060005 Disease: Macular degeneration , early-onset (EOMD) [MIM:616118]
26768 P35556 (FBN2) Y C 1146 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26769 P35556 (FBN2) C F 1156 rs1206843725 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26770 P35556 (FBN2) E K 1161 rs1554123065 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26771 P35556 (FBN2) G C 1179 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26772 P35556 (FBN2) C Y 1198 rs863223567 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26773 P35556 (FBN2) C R 1240 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26774 P35556 (FBN2) C F 1246 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26775 P35556 (FBN2) M T 1247 rs149054177 Disease: Macular degeneration , early-onset (EOMD) [MIM:616118]
26776 P35556 (FBN2) C W 1253 rs28931602 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26777 P35556 (FBN2) C Y 1253 rs137852825 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26778 P35556 (FBN2) C R 1257 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26779 P35556 (FBN2) C W 1257 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26780 P35556 (FBN2) N K 1259 rs267606802 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26781 P35556 (FBN2) C R 1268 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26782 P35556 (FBN2) H N 1381 rs78727187 Benign
26783 P35556 (FBN2) C F 1384 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26784 P35556 (FBN2) C Y 1384 rs794727560 Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26785 P35556 (FBN2) C R 1406 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26786 P35556 (FBN2) D N 1408 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26787 P35556 (FBN2) T A 1416 rs200837433 Benign
26788 P35556 (FBN2) C R 1425 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26789 P35556 (FBN2) C S 1434 - Disease: Contractural arachnodacty ly, congenital (CCA) [MIM:121050]
26790 P35556 (FBN2) E K 1438 rs56168072 Benign
26791 P35556 (FBN2) W G 1772 - Benign
26792 P35556 (FBN2) F L 2266 - Benign
26793 P35556 (FBN2) T M 2278 rs2307109 Benign
26794 P35556 (FBN2) M V 2311 rs32209 Benign
26795 P35556 (FBN2) P T 2428 rs1801169 Benign
26796 P35556 (FBN2) S L 2580 rs2291628 Benign
26797 P35556 (FBN2) L S 2581 rs2291628 Benign
26798 P35556 (FBN2) S P 2771 rs1801170 Benign
26799 P35557 (GCK) D N 4 rs202091228 Benign
26800 P35557 (GCK) A T 11 rs116093166 Benign
26801 P35557 (GCK) V E 16 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26802 P35557 (GCK) I N 19 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26803 P35557 (GCK) L P 20 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26804 P35557 (GCK) R W 36 rs762263694 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26805 P35557 (GCK) E K 40 rs794727236 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26806 P35557 (GCK) R C 43 rs1486280029 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26807 P35557 (GCK) R S 43 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26808 P35557 (GCK) G S 44 rs267601516 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26809 P35557 (GCK) H D 50 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26810 P35557 (GCK) A S 53 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26811 P35557 (GCK) Y S 61 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26812 P35557 (GCK) T I 65 - Disease: Familial hyperinsulin emic hypoglycemia 3 (HHF3) [MIM:602485]
26813 P35557 (GCK) E K 70 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26814 P35557 (GCK) G R 72 rs193922289 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26815 P35557 (GCK) L P 77 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26816 P35557 (GCK) D E 78 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26817 P35557 (GCK) G A 80 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26818 P35557 (GCK) G D 80 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26819 P35557 (GCK) G S 80 rs1554335761 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26820 P35557 (GCK) T I 82 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26821 P35557 (GCK) V L 91 - Disease: Familial hyperinsulin emic hypoglycemia 3 (HHF3) [MIM:602485]
26822 P35557 (GCK) W C 99 - Disease: Familial hyperinsulin emic hypoglycemia 3 (HHF3) [MIM:602485]
26823 P35557 (GCK) M T 107 - Benign
26824 P35557 (GCK) Y H 108 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26825 P35557 (GCK) I T 110 rs1338970607 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26826 P35557 (GCK) T P 116 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26827 P35557 (GCK) A D 119 rs1176659689 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26828 P35557 (GCK) C Y 129 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26829 P35557 (GCK) S P 131 rs104894010 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26830 P35557 (GCK) H R 137 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26831 P35557 (GCK) F S 150 rs193922297 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26832 P35557 (GCK) S T 151 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26833 P35557 (GCK) D N 160 rs1554335566 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26834 P35557 (GCK) L P 164 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26835 P35557 (GCK) T A 168 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26836 P35557 (GCK) T P 168 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26837 P35557 (GCK) K R 169 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26838 P35557 (GCK) G R 175 rs587780344 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26839 P35557 (GCK) V L 182 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26840 P35557 (GCK) V M 182 rs587780345 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26841 P35557 (GCK) D Y 187 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26842 P35557 (GCK) A T 188 rs751279776 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26843 P35557 (GCK) A V 188 rs193922307 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26844 P35557 (GCK) R W 191 rs1085307455 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26845 P35557 (GCK) V L 200 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26846 P35557 (GCK) M R 202 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26847 P35557 (GCK) M T 202 rs193922311 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26848 P35557 (GCK) V A 203 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26849 P35557 (GCK) T M 206 rs1441649062 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26850 P35557 (GCK) T M 209 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26851 P35557 (GCK) M K 210 rs80356654 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26852 P35557 (GCK) M T 210 rs80356654 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26853 P35557 (GCK) C R 213 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26854 P35557 (GCK) Y C 214 rs104894015 Disease: Familial hyperinsulin emic hypoglycemia 3 (HHF3) [MIM:602485]
26855 P35557 (GCK) D N 217 rs147065275 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26856 P35557 (GCK) E K 221 rs193922317 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26857 P35557 (GCK) G S 223 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26858 P35557 (GCK) M R 224 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26859 P35557 (GCK) I M 225 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26860 P35557 (GCK) V M 226 rs148311934 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26861 P35557 (GCK) G C 227 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26862 P35557 (GCK) G S 227 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26863 P35557 (GCK) T M 228 rs80356655 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26864 P35557 (GCK) C R 233 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26865 P35557 (GCK) E K 248 rs759421263 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26866 P35557 (GCK) C G 252 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26867 P35557 (GCK) T A 255 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26868 P35557 (GCK) E K 256 rs769268803 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26869 P35557 (GCK) W R 257 rs1554335135 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26870 P35557 (GCK) A T 259 rs1375656631 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26871 P35557 (GCK) G E 261 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26872 P35557 (GCK) G R 261 rs104894008 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26873 P35557 (GCK) E K 265 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26874 P35557 (GCK) E Q 279 rs104894005 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26875 P35557 (GCK) M K 298 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26876 P35557 (GCK) G R 299 rs104894009 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26877 P35557 (GCK) E K 300 rs1255911887 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26878 P35557 (GCK) E Q 300 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26879 P35557 (GCK) R W 308 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26880 P35557 (GCK) L P 309 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26881 P35557 (GCK) S L 336 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26882 P35557 (GCK) T P 342 rs1000236360 Benign
26883 P35557 (GCK) V M 367 rs1057521092 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26884 P35557 (GCK) R H 377 rs193922264 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26885 P35557 (GCK) A T 378 rs104894016 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26886 P35557 (GCK) A V 379 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26887 P35557 (GCK) C Y 382 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26888 P35557 (GCK) S L 383 rs777870079 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26889 P35557 (GCK) A T 384 rs1376620210 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26890 P35557 (GCK) G V 385 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26891 P35557 (GCK) R C 392 rs1167124132 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26892 P35557 (GCK) M T 393 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26893 P35557 (GCK) R L 397 rs193929375 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26894 P35557 (GCK) S F 411 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26895 P35557 (GCK) K E 414 rs193922272 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26896 P35557 (GCK) H P 416 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26897 P35557 (GCK) K E 420 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26898 P35557 (GCK) S L 441 rs1286804191 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26899 P35557 (GCK) S W 441 - Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26900 P35557 (GCK) E K 442 rs758737171 Disease: Familial hyperinsulin emic hypoglycemia 3 (HHF3) [MIM:602485]
26901 P35557 (GCK) R Q 447 rs1131691416 Disease: Maturity- onset diabetes of the young 2 (MODY2) [MIM:125851]
26902 P35557 (GCK) A T 449 rs193922282 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
26903 P35557 (GCK) V M 455 rs104894012 Disease: Familial hyperinsulin emic hypoglycemia 3 (HHF3) [MIM:602485]
26904 P35557 (GCK) A V 456 rs104894014 Disease: Familial hyperinsulin emic hypoglycemia 3 (HHF3) [MIM:602485]
26905 P35558 (PCK1) I T 45 rs202197769 Disease: Phosphoenolp yruvate carboxykinas e deficiency, cytosolic (PCKDC) [MIM:261680]
26906 P35558 (PCK1) R Q 55 rs28383585 Benign
26907 P35558 (PCK1) M T 60 rs28383586 Benign
26908 P35558 (PCK1) T I 138 rs28359542 Benign
26909 P35558 (PCK1) V L 184 rs707555 Benign
26910 P35558 (PCK1) I V 267 rs8192708 Benign
26911 P35558 (PCK1) E K 276 rs11552145 Benign
26912 P35558 (PCK1) V I 368 rs1804160 Benign
26913 P35558 (PCK1) P S 427 rs28359550 Benign
26914 P35558 (PCK1) E D 586 rs1042529 Benign
26915 P35568 (IRS1) P R 158 rs1801108 Benign
26916 P35568 (IRS1) M T 209 rs1801118 Benign
26917 P35568 (IRS1) A P 512 rs1801276 Benign
26918 P35568 (IRS1) T R 608 rs104893642 Benign
26919 P35568 (IRS1) S F 809 rs1801120 Benign
26920 P35568 (IRS1) S G 892 rs1801277 Benign
26921 P35568 (IRS1) G R 971 rs1801278 Benign
26922 P35568 (IRS1) S Y 1043 - Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
26923 P35568 (IRS1) C Y 1095 - Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
26924 P35568 (IRS1) D N 1137 rs3731594 Benign
26925 P35573 (AGL) T A 38 rs35278779 Benign
26926 P35573 (AGL) Q R 229 rs17121403 Benign
26927 P35573 (AGL) R Q 387 rs17121464 Benign
26928 P35573 (AGL) A S 701 rs3736297 Benign
26929 P35573 (AGL) S C 962 rs34714252 Benign
26930 P35573 (AGL) P S 1067 rs3753494 Benign
26931 P35573 (AGL) G R 1115 rs2230307 Benign
26932 P35573 (AGL) I N 1144 rs2230308 Benign
26933 P35573 (AGL) A T 1207 rs11807956 Benign
26934 P35573 (AGL) R H 1253 rs12043139 Benign
26935 P35573 (AGL) E K 1343 rs112795811 Benign
26936 P35573 (AGL) G R 1448 rs118203964 Disease: Glycogen storage disease 3 (GSD3) [MIM:232400]
26937 P35573 (AGL) R G 1487 rs12118058 Benign
26938 P35575 (G6PC) M R 5 rs1250172816 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26939 P35575 (G6PC) T A 16 rs761839506 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26940 P35575 (G6PC) T R 16 rs1555558914 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26941 P35575 (G6PC) Q R 20 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26942 P35575 (G6PC) D V 38 rs104894565 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26943 P35575 (G6PC) Q P 54 rs1057517008 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26944 P35575 (G6PC) W R 63 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26945 P35575 (G6PC) A P 65 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26946 P35575 (G6PC) G R 68 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26947 P35575 (G6PC) K N 76 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26948 P35575 (G6PC) W R 77 rs104894566 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26949 P35575 (G6PC) G R 81 rs756632286 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26950 P35575 (G6PC) R C 83 rs1801175 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26951 P35575 (G6PC) R H 83 rs1801176 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26952 P35575 (G6PC) R I 83 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26953 P35575 (G6PC) T I 108 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26954 P35575 (G6PC) E K 110 rs104894567 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26955 P35575 (G6PC) T I 111 rs1203167759 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26956 P35575 (G6PC) P L 113 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26957 P35575 (G6PC) H L 119 rs1401928680 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26958 P35575 (G6PC) G D 122 rs759982943 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26959 P35575 (G6PC) A T 124 rs104894568 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26960 P35575 (G6PC) W L 156 rs1189630738 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26961 P35575 (G6PC) V A 166 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26962 P35575 (G6PC) V G 166 rs104894571 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26963 P35575 (G6PC) R Q 170 rs750470654 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26964 P35575 (G6PC) F C 177 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26965 P35575 (G6PC) P A 178 rs763543607 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26966 P35575 (G6PC) P S 178 rs763543607 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26967 P35575 (G6PC) H P 179 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26968 P35575 (G6PC) G E 184 rs104894569 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26969 P35575 (G6PC) G V 184 rs104894569 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26970 P35575 (G6PC) G D 188 rs760981149 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26971 P35575 (G6PC) G R 188 rs80356482 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26972 P35575 (G6PC) G S 188 rs80356482 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26973 P35575 (G6PC) Y C 209 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26974 P35575 (G6PC) L P 211 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26975 P35575 (G6PC) G R 222 rs1410392732 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26976 P35575 (G6PC) W R 236 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26977 P35575 (G6PC) A T 241 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26978 P35575 (G6PC) T I 255 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26979 P35575 (G6PC) P L 257 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26980 P35575 (G6PC) N K 264 rs1555560149 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26981 P35575 (G6PC) L P 265 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26982 P35575 (G6PC) G V 266 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26983 P35575 (G6PC) G R 270 rs1272803483 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26984 P35575 (G6PC) G V 270 rs80356483 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26985 P35575 (G6PC) G W 270 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26986 P35575 (G6PC) R C 295 rs104894563 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26987 P35575 (G6PC) S P 298 rs770003650 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26988 P35575 (G6PC) F L 322 rs1399520060 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26989 P35575 (G6PC) V F 338 rs367727229 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26990 P35575 (G6PC) I N 341 rs387906505 Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26991 P35575 (G6PC) L R 345 - Disease: Glycogen storage disease 1A (GSD1A) [MIM:232200]
26992 P35579 (MYH9) N K 93 rs121913655 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
26993 P35579 (MYH9) A T 95 - Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
26994 P35579 (MYH9) S L 96 rs121913657 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
26995 P35579 (MYH9) K N 373 - Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
26996 P35579 (MYH9) R C 702 rs80338826 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
26997 P35579 (MYH9) R H 702 rs80338827 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
26998 P35579 (MYH9) R H 705 rs80338828 Disease: Deafness, autosomal dominant, 17 (DFNA17) [MIM:603622]
26999 P35579 (MYH9) K Q 910 rs554332083 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27000 P35579 (MYH9) V E 967 rs16996652 Benign
27001 P35579 (MYH9) S P 1114 rs200901330 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27002 P35579 (MYH9) T I 1155 rs121913656 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27003 P35579 (MYH9) R C 1165 rs80338829 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27004 P35579 (MYH9) R L 1165 rs80338830 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27005 P35579 (MYH9) D H 1424 rs80338831 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27006 P35579 (MYH9) D N 1424 rs80338831 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27007 P35579 (MYH9) D Y 1424 rs80338831 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27008 P35579 (MYH9) I V 1626 rs2269529 Benign
27009 P35579 (MYH9) I V 1816 rs762773112 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27010 P35579 (MYH9) E K 1841 rs80338834 Disease: Macrothrombo cytopenia and granulocyte inclusions with or without nephritis or sensorineura l hearing loss (MATINS) [MIM:155100]
27011 P35580 (MYH10) R C 270 rs727504231 Disease: -
27012 P35590 (TIE1) V M 448 rs56302794 Benign
27013 P35590 (TIE1) A V 1104 rs35573981 Benign
27014 P35590 (TIE1) R H 1109 rs34993202 Benign
27015 P35609 (ACTN2) Q R 9 rs121434525 Disease: Cardiomyopat hy, dilated 1AA, with or without left ventricular non- compaction (CMD1AA) [MIM:612158]
27016 P35609 (ACTN2) A T 119 rs727502886 Disease: Cardiomyopat hy, familial hypertrophic 23, with or without left ventricular non- compaction (CMH23) [MIM:612158]
27017 P35609 (ACTN2) M T 228 rs786205144 Disease: Cardiomyopat hy, familial hypertrophic 23, with or without left ventricular non- compaction (CMH23) [MIM:612158]
27018 P35609 (ACTN2) C R 487 - Disease: Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) [MIM:618655]
27019 P35609 (ACTN2) T M 495 rs200248944 Disease: Cardiomyopat hy, familial hypertrophic 23, with or without left ventricular non- compaction (CMH23) [MIM:612158]
27020 P35609 (ACTN2) E A 583 rs200631005 Disease: Cardiomyopat hy, familial hypertrophic 23, with or without left ventricular non- compaction (CMH23) [MIM:612158]
27021 P35609 (ACTN2) M V 604 rs35997569 Benign
27022 P35609 (ACTN2) E G 628 rs786204951 Disease: Cardiomyopat hy, familial hypertrophic 23, with or without left ventricular non- compaction (CMH23) [MIM:612158]
27023 P35609 (ACTN2) L R 727 - Disease: Myopathy, congenital, with structured cores and Z-line abnormalitie s (MYOCOZ) [MIM:618654]
27024 P35610 (SOAT1) Q R 526 rs13306731 Benign
27025 P35611 (ADD1) R C 6 rs2295497 Benign
27026 P35611 (ADD1) Y N 270 rs4971 Benign
27027 P35611 (ADD1) E D 376 rs4972 Benign
27028 P35611 (ADD1) G W 460 rs4961 Benign
27029 P35611 (ADD1) N I 510 rs4962 Benign
27030 P35611 (ADD1) S C 586 rs4963 Benign
27031 P35612 (ADD2) D N 28 rs4986 Benign
27032 P35612 (ADD2) S C 98 rs4987 Benign
27033 P35612 (ADD2) E D 335 rs4982 Benign
27034 P35612 (ADD2) T A 439 rs17855969 Benign
27035 P35612 (ADD2) S R 663 rs4985 Benign
27036 P35613 (BSG) K N 152 rs14704 Benign
27037 P35613 (BSG) V L 176 rs2229662 Benign
27038 P35613 (BSG) L P 206 rs55911144 Benign
27039 P35613 (BSG) E K 208 rs104894669 Benign
27040 P35613 (BSG) G V 269 rs1803203 Benign
27041 P35625 (TIMP3) S C 179 rs137853300 Disease: Sorsby fundus dystrophy (SFD) [MIM:136900]
27042 P35625 (TIMP3) G C 189 rs137853301 Disease: Sorsby fundus dystrophy (SFD) [MIM:136900]
27043 P35625 (TIMP3) G C 190 - Disease: Sorsby fundus dystrophy (SFD) [MIM:136900]
27044 P35625 (TIMP3) Y C 191 rs137853299 Disease: Sorsby fundus dystrophy (SFD) [MIM:136900]
27045 P35625 (TIMP3) S C 204 rs137853298 Disease: Sorsby fundus dystrophy (SFD) [MIM:136900]
27046 P35626 (GRK3) R S 50 rs55700971 Benign
27047 P35626 (GRK3) N S 60 rs55740593 Benign
27048 P35626 (GRK3) V M 409 rs2272859 Benign
27049 P35637 (FUS) G S 191 rs148758737 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27050 P35637 (FUS) R C 216 rs267606832 Disease: Tremor, hereditary essential 4 (ETM4) [MIM:614782]
27051 P35637 (FUS) G V 225 - Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27052 P35637 (FUS) G C 230 rs748374535 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27053 P35637 (FUS) R C 234 rs777819849 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27054 P35637 (FUS) R C 244 rs1165095258 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27055 P35637 (FUS) M V 254 rs752076094 Benign
27056 P35637 (FUS) P L 431 rs186547381 Disease: Tremor, hereditary essential 4 (ETM4) [MIM:614782]
27057 P35637 (FUS) G D 507 rs267606831 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27058 P35637 (FUS) R G 514 - Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27059 P35637 (FUS) R S 514 - Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27060 P35637 (FUS) G C 515 - Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27061 P35637 (FUS) H Q 517 rs121909667 Benign
27062 P35637 (FUS) R K 518 rs121909669 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27063 P35637 (FUS) R C 521 rs121909668 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27064 P35637 (FUS) R G 521 rs121909668 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27065 P35637 (FUS) R H 521 rs121909671 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27066 P35637 (FUS) R G 522 rs1555509693 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27067 P35637 (FUS) R S 524 rs886041389 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27068 P35637 (FUS) R T 524 - Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27069 P35637 (FUS) P L 525 rs886041390 Disease: Amyotrophic lateral sclerosis 6, with or without frontotempor al dementia (ALS6) [MIM:608030]
27070 P35658 (NUP214) R C 38 - Disease: Encephalopat hy, acute, infection- induced, 9 (IIAE9) [MIM:618426]
27071 P35658 (NUP214) P S 387 - Disease: Encephalopat hy, acute, infection- induced, 9 (IIAE9) [MIM:618426]
27072 P35658 (NUP214) P S 574 rs103612 Benign
27073 P35658 (NUP214) G A 1592 rs28594669 Benign
27074 P35659 (DEK) V A 140 rs17336208 Benign
27075 P35663 (CYLC1) D H 399 rs12008888 Benign
27076 P35670 (ATP7B) A D 14 rs587783319 Benign
27077 P35670 (ATP7B) N S 41 rs201738967 Disease: Wilson disease (WD) [MIM:277900]
27078 P35670 (ATP7B) G V 85 rs786204643 Disease: Wilson disease (WD) [MIM:277900]
27079 P35670 (ATP7B) G D 96 rs1429553821 Benign
27080 P35670 (ATP7B) V L 149 - Benign
27081 P35670 (ATP7B) V L 290 - Benign
27082 P35670 (ATP7B) I V 390 rs770903362 Benign
27083 P35670 (ATP7B) S A 406 rs1801243 Benign
27084 P35670 (ATP7B) V L 446 rs587783298 Benign
27085 P35670 (ATP7B) V L 456 rs1801244 Benign
27086 P35670 (ATP7B) L V 466 - Benign
27087 P35670 (ATP7B) L S 492 - Disease: Wilson disease (WD) [MIM:277900]
27088 P35670 (ATP7B) V A 536 rs138427376 Benign
27089 P35670 (ATP7B) P L 539 rs572122562 Disease: Wilson disease (WD) [MIM:277900]
27090 P35670 (ATP7B) N S 565 rs778475094 Benign
27091 P35670 (ATP7B) G D 591 rs797045402 Disease: Wilson disease (WD) [MIM:277900]
27092 P35670 (ATP7B) R W 616 rs374172791 Disease: Wilson disease (WD) [MIM:277900]
27093 P35670 (ATP7B) M R 645 rs121907998 Disease: Wilson disease (WD) [MIM:277900]
27094 P35670 (ATP7B) P L 690 rs1555291809 Disease: Wilson disease (WD) [MIM:277900]
27095 P35670 (ATP7B) G R 691 rs121908001 Disease: Wilson disease (WD) [MIM:277900]
27096 P35670 (ATP7B) S C 693 rs1212479289 Disease: Wilson disease (WD) [MIM:277900]
27097 P35670 (ATP7B) C Y 703 rs767218895 Disease: Wilson disease (WD) [MIM:277900]
27098 P35670 (ATP7B) L P 708 rs121908000 Disease: Wilson disease (WD) [MIM:277900]
27099 P35670 (ATP7B) G A 710 rs1555291285 Disease: Wilson disease (WD) [MIM:277900]
27100 P35670 (ATP7B) G R 710 - Disease: Wilson disease (WD) [MIM:277900]
27101 P35670 (ATP7B) G S 710 rs137853285 Disease: Wilson disease (WD) [MIM:277900]
27102 P35670 (ATP7B) G V 710 - Disease: Wilson disease (WD) [MIM:277900]
27103 P35670 (ATP7B) G E 711 - Disease: Wilson disease (WD) [MIM:277900]
27104 P35670 (ATP7B) G R 711 - Disease: Wilson disease (WD) [MIM:277900]
27105 P35670 (ATP7B) G W 711 rs1394999756 Disease: Wilson disease (WD) [MIM:277900]
27106 P35670 (ATP7B) Y C 713 rs756883878 Disease: Wilson disease (WD) [MIM:277900]
27107 P35670 (ATP7B) S P 721 rs765667658 Disease: Wilson disease (WD) [MIM:277900]
27108 P35670 (ATP7B) R G 723 - Benign
27109 P35670 (ATP7B) Y C 741 rs770533110 Disease: Wilson disease (WD) [MIM:277900]
27110 P35670 (ATP7B) S P 744 - Disease: Wilson disease (WD) [MIM:277900]
27111 P35670 (ATP7B) I F 747 - Disease: Wilson disease (WD) [MIM:277900]
27112 P35670 (ATP7B) A G 756 - Disease: Wilson disease (WD) [MIM:277900]
27113 P35670 (ATP7B) P L 760 rs766907687 Disease: Wilson disease (WD) [MIM:277900]
27114 P35670 (ATP7B) D G 765 rs1555291147 Disease: Wilson disease (WD) [MIM:277900]
27115 P35670 (ATP7B) D N 765 rs28942075 Disease: Wilson disease (WD) [MIM:277900]
27116 P35670 (ATP7B) T M 766 rs121907997 Disease: Wilson disease (WD) [MIM:277900]
27117 P35670 (ATP7B) T R 766 rs121907997 Disease: Wilson disease (WD) [MIM:277900]
27118 P35670 (ATP7B) P H 768 - Disease: Wilson disease (WD) [MIM:277900]
27119 P35670 (ATP7B) M I 769 - Disease: Wilson disease (WD) [MIM:277900]
27120 P35670 (ATP7B) M R 769 rs772595172 Disease: Wilson disease (WD) [MIM:277900]
27121 P35670 (ATP7B) M V 769 rs193922103 Disease: Wilson disease (WD) [MIM:277900]
27122 P35670 (ATP7B) L P 776 - Disease: Wilson disease (WD) [MIM:277900]
27123 P35670 (ATP7B) R G 778 rs137853284 Disease: Wilson disease (WD) [MIM:277900]
27124 P35670 (ATP7B) R L 778 rs28942074 Disease: Wilson disease (WD) [MIM:277900]
27125 P35670 (ATP7B) R Q 778 rs28942074 Disease: Wilson disease (WD) [MIM:277900]
27126 P35670 (ATP7B) R W 778 rs137853284 Disease: Wilson disease (WD) [MIM:277900]
27127 P35670 (ATP7B) W G 779 rs751798708 Disease: Wilson disease (WD) [MIM:277900]
27128 P35670 (ATP7B) T I 788 rs541408630 Disease: Wilson disease (WD) [MIM:277900]
27129 P35670 (ATP7B) L R 795 - Disease: Wilson disease (WD) [MIM:277900]
27130 P35670 (ATP7B) R S 816 - Disease: Wilson disease (WD) [MIM:277900]
27131 P35670 (ATP7B) V L 825 - Benign
27132 P35670 (ATP7B) R W 827 rs539585071 Disease: Wilson disease (WD) [MIM:277900]
27133 P35670 (ATP7B) K R 832 rs1061472 Benign
27134 P35670 (ATP7B) P L 840 rs768671894 Disease: Wilson disease (WD) [MIM:277900]
27135 P35670 (ATP7B) I T 857 rs1057520235 Disease: Wilson disease (WD) [MIM:277900]
27136 P35670 (ATP7B) A T 861 - Disease: Wilson disease (WD) [MIM:277900]
27137 P35670 (ATP7B) V I 864 - Benign
27138 P35670 (ATP7B) G R 869 rs191312027 Disease: Wilson disease (WD) [MIM:277900]
27139 P35670 (ATP7B) G V 869 - Disease: Wilson disease (WD) [MIM:277900]
27140 P35670 (ATP7B) A V 874 rs121907994 Disease: Wilson disease (WD) [MIM:277900]
27141 P35670 (ATP7B) G R 875 rs587783304 Benign
27142 P35670 (ATP7B) G V 875 - Disease: Wilson disease (WD) [MIM:277900]
27143 P35670 (ATP7B) V M 890 rs786204718 Disease: Wilson disease (WD) [MIM:277900]
27144 P35670 (ATP7B) G V 891 - Disease: Wilson disease (WD) [MIM:277900]
27145 P35670 (ATP7B) Q R 898 - Disease: Wilson disease (WD) [MIM:277900]
27146 P35670 (ATP7B) D E 918 - Disease: Wilson disease (WD) [MIM:277900]
27147 P35670 (ATP7B) D N 918 rs540935874 Disease: Wilson disease (WD) [MIM:277900]
27148 P35670 (ATP7B) R G 919 rs121907993 Disease: Wilson disease (WD) [MIM:277900]
27149 P35670 (ATP7B) R W 919 rs121907993 Disease: Wilson disease (WD) [MIM:277900]
27150 P35670 (ATP7B) S N 921 rs1230241288 Disease: Wilson disease (WD) [MIM:277900]
27151 P35670 (ATP7B) I V 929 rs534960245 Benign
27152 P35670 (ATP7B) T M 935 rs750019452 Disease: Wilson disease (WD) [MIM:277900]
27153 P35670 (ATP7B) W C 939 rs1057517310 Disease: Wilson disease (WD) [MIM:277900]
27154 P35670 (ATP7B) G C 943 - Disease: Wilson disease (WD) [MIM:277900]
27155 P35670 (ATP7B) G D 943 rs779323689 Disease: Wilson disease (WD) [MIM:277900]
27156 P35670 (ATP7B) G S 943 rs28942076 Disease: Wilson disease (WD) [MIM:277900]
27157 P35670 (ATP7B) V G 949 rs1169959260 Disease: Wilson disease (WD) [MIM:277900]
27158 P35670 (ATP7B) R K 952 rs732774 Benign
27159 P35670 (ATP7B) I F 967 rs60003608 Disease: Wilson disease (WD) [MIM:277900]
27160 P35670 (ATP7B) R Q 969 rs121907996 Disease: Wilson disease (WD) [MIM:277900]
27161 P35670 (ATP7B) A V 971 rs770340441 Disease: Wilson disease (WD) [MIM:277900]
27162 P35670 (ATP7B) T M 974 rs201061621 Disease: Wilson disease (WD) [MIM:277900]
27163 P35670 (ATP7B) S Y 975 rs778163447 Disease: Wilson disease (WD) [MIM:277900]
27164 P35670 (ATP7B) T M 977 rs72552255 Disease: Wilson disease (WD) [MIM:277900]
27165 P35670 (ATP7B) C Y 985 - Disease: Wilson disease (WD) [MIM:277900]
27166 P35670 (ATP7B) G R 988 rs199623434 Disease: Wilson disease (WD) [MIM:277900]
27167 P35670 (ATP7B) T M 991 rs41292782 Disease: Wilson disease (WD) [MIM:277900]
27168 P35670 (ATP7B) P H 992 - Disease: Wilson disease (WD) [MIM:277900]
27169 P35670 (ATP7B) P L 992 rs201038679 Disease: Wilson disease (WD) [MIM:277900]
27170 P35670 (ATP7B) M T 996 rs770782111 Disease: Wilson disease (WD) [MIM:277900]
27171 P35670 (ATP7B) G D 998 - Disease: Wilson disease (WD) [MIM:277900]
27172 P35670 (ATP7B) G R 1000 rs751078884 Disease: Wilson disease (WD) [MIM:277900]
27173 P35670 (ATP7B) A T 1003 rs201497300 Disease: Wilson disease (WD) [MIM:277900]
27174 P35670 (ATP7B) A V 1003 rs775055397 Disease: Wilson disease (WD) [MIM:277900]
27175 P35670 (ATP7B) Q P 1004 rs587783307 Disease: Wilson disease (WD) [MIM:277900]
27176 P35670 (ATP7B) K T 1010 rs747584649 Disease: Wilson disease (WD) [MIM:277900]
27177 P35670 (ATP7B) A V 1018 rs371840514 Disease: Wilson disease (WD) [MIM:277900]
27178 P35670 (ATP7B) T I 1029 rs1555286628 Disease: Wilson disease (WD) [MIM:277900]
27179 P35670 (ATP7B) T I 1031 - Disease: Wilson disease (WD) [MIM:277900]
27180 P35670 (ATP7B) T A 1033 rs1555286620 Disease: Wilson disease (WD) [MIM:277900]
27181 P35670 (ATP7B) T S 1033 - Disease: Wilson disease (WD) [MIM:277900]
27182 P35670 (ATP7B) G V 1035 rs753594031 Disease: Wilson disease (WD) [MIM:277900]
27183 P35670 (ATP7B) V I 1036 rs761147984 Disease: Wilson disease (WD) [MIM:277900]
27184 P35670 (ATP7B) R K 1038 rs59959366 Disease: Wilson disease (WD) [MIM:277900]
27185 P35670 (ATP7B) R P 1041 - Disease: Wilson disease (WD) [MIM:277900]
27186 P35670 (ATP7B) L P 1043 rs1412025509 Disease: Wilson disease (WD) [MIM:277900]
27187 P35670 (ATP7B) P L 1052 rs778543794 Disease: Wilson disease (WD) [MIM:277900]
27188 P35670 (ATP7B) G E 1061 rs764131178 Disease: Wilson disease (WD) [MIM:277900]
27189 P35670 (ATP7B) A V 1063 rs587783309 Disease: Wilson disease (WD) [MIM:277900]
27190 P35670 (ATP7B) E A 1064 rs374094065 Disease: Wilson disease (WD) [MIM:277900]
27191 P35670 (ATP7B) E K 1064 rs376910645 Disease: Wilson disease (WD) [MIM:277900]
27192 P35670 (ATP7B) A P 1065 - Disease: Wilson disease (WD) [MIM:277900]
27193 P35670 (ATP7B) E G 1068 rs1555286478 Disease: Wilson disease (WD) [MIM:277900]
27194 P35670 (ATP7B) H Q 1069 rs76151636 Disease: Wilson disease (WD) [MIM:277900]
27195 P35670 (ATP7B) L F 1083 rs1286080173 Disease: Wilson disease (WD) [MIM:277900]
27196 P35670 (ATP7B) G E 1089 rs1555285911 Disease: Wilson disease (WD) [MIM:277900]
27197 P35670 (ATP7B) G V 1089 - Disease: Wilson disease (WD) [MIM:277900]
27198 P35670 (ATP7B) F L 1094 rs1397083296 Disease: Wilson disease (WD) [MIM:277900]
27199 P35670 (ATP7B) Q P 1095 rs1555285891 Disease: Wilson disease (WD) [MIM:277900]
27200 P35670 (ATP7B) P R 1098 - Disease: Wilson disease (WD) [MIM:277900]
27201 P35670 (ATP7B) G S 1099 rs761632029 Disease: Wilson disease (WD) [MIM:277900]
27202 P35670 (ATP7B) G R 1101 rs786204483 Disease: Wilson disease (WD) [MIM:277900]
27203 P35670 (ATP7B) I T 1102 rs560952220 Disease: Wilson disease (WD) [MIM:277900]
27204 P35670 (ATP7B) C F 1104 - Disease: Wilson disease (WD) [MIM:277900]
27205 P35670 (ATP7B) C S 1104 - Disease: Wilson disease (WD) [MIM:277900]
27206 P35670 (ATP7B) C Y 1104 rs764041557 Disease: Wilson disease (WD) [MIM:277900]
27207 P35670 (ATP7B) V D 1106 rs775541743 Disease: Wilson disease (WD) [MIM:277900]
27208 P35670 (ATP7B) V M 1109 rs759109027 Benign
27209 P35670 (ATP7B) G D 1111 rs182659444 Disease: Wilson disease (WD) [MIM:277900]
27210 P35670 (ATP7B) V A 1140 rs1801249 Benign
27211 P35670 (ATP7B) Q H 1142 rs778749563 Disease: Wilson disease (WD) [MIM:277900]
27212 P35670 (ATP7B) T N 1143 rs587783313 Benign
27213 P35670 (ATP7B) V M 1146 rs1213481140 Disease: Wilson disease (WD) [MIM:277900]
27214 P35670 (ATP7B) I T 1148 rs60431989 Disease: Wilson disease (WD) [MIM:277900]
27215 P35670 (ATP7B) G A 1149 - Disease: Wilson disease (WD) [MIM:277900]
27216 P35670 (ATP7B) R C 1151 rs755554442 Disease: Wilson disease (WD) [MIM:277900]
27217 P35670 (ATP7B) R H 1151 rs377297166 Disease: Wilson disease (WD) [MIM:277900]
27218 P35670 (ATP7B) W C 1153 rs1330620114 Disease: Wilson disease (WD) [MIM:277900]
27219 P35670 (ATP7B) W R 1153 - Disease: Wilson disease (WD) [MIM:277900]
27220 P35670 (ATP7B) D N 1164 rs867107727 Disease: Wilson disease (WD) [MIM:277900]
27221 P35670 (ATP7B) A S 1168 rs777879359 Disease: Wilson disease (WD) [MIM:277900]
27222 P35670 (ATP7B) M T 1169 rs1555285311 Disease: Wilson disease (WD) [MIM:277900]
27223 P35670 (ATP7B) M V 1169 rs749085322 Disease: Wilson disease (WD) [MIM:277900]
27224 P35670 (ATP7B) E G 1173 - Disease: Wilson disease (WD) [MIM:277900]
27225 P35670 (ATP7B) E K 1173 rs756029120 Disease: Wilson disease (WD) [MIM:277900]
27226 P35670 (ATP7B) G E 1176 rs1318758433 Disease: Wilson disease (WD) [MIM:277900]
27227 P35670 (ATP7B) G R 1176 rs137853279 Disease: Wilson disease (WD) [MIM:277900]
27228 P35670 (ATP7B) A G 1183 rs587783315 Disease: Wilson disease (WD) [MIM:277900]
27229 P35670 (ATP7B) G C 1186 - Disease: Wilson disease (WD) [MIM:277900]
27230 P35670 (ATP7B) H R 1207 rs7334118 Benign
27231 P35670 (ATP7B) G V 1213 rs1555284582 Disease: Wilson disease (WD) [MIM:277900]
27232 P35670 (ATP7B) V M 1216 rs776280797 Disease: Wilson disease (WD) [MIM:277900]
27233 P35670 (ATP7B) T M 1220 rs193922107 Disease: Wilson disease (WD) [MIM:277900]
27234 P35670 (ATP7B) G E 1221 - Disease: Wilson disease (WD) [MIM:277900]
27235 P35670 (ATP7B) D N 1222 - Disease: Wilson disease (WD) [MIM:277900]
27236 P35670 (ATP7B) D V 1222 - Disease: Wilson disease (WD) [MIM:277900]
27237 P35670 (ATP7B) D Y 1222 - Disease: Wilson disease (WD) [MIM:277900]
27238 P35670 (ATP7B) R T 1228 - Disease: Wilson disease (WD) [MIM:277900]
27239 P35670 (ATP7B) I V 1230 rs200911496 Disease: Wilson disease (WD) [MIM:277900]
27240 P35670 (ATP7B) T P 1232 rs568009639 Disease: Wilson disease (WD) [MIM:277900]
27241 P35670 (ATP7B) V G 1239 rs374628199 Disease: Wilson disease (WD) [MIM:277900]
27242 P35670 (ATP7B) V L 1243 rs1277243795 Benign
27243 P35670 (ATP7B) P S 1245 rs587783316 Benign
27244 P35670 (ATP7B) P T 1245 - Disease: Wilson disease (WD) [MIM:277900]
27245 P35670 (ATP7B) K N 1248 - Disease: Wilson disease (WD) [MIM:277900]
27246 P35670 (ATP7B) V I 1252 - Disease: Wilson disease (WD) [MIM:277900]
27247 P35670 (ATP7B) L I 1255 - Disease: Wilson disease (WD) [MIM:277900]
27248 P35670 (ATP7B) Q R 1256 rs1555283946 Disease: Wilson disease (WD) [MIM:277900]
27249 P35670 (ATP7B) V F 1262 rs769484789 Disease: Wilson disease (WD) [MIM:277900]
27250 P35670 (ATP7B) G R 1266 rs121907992 Disease: Wilson disease (WD) [MIM:277900]
27251 P35670 (ATP7B) G V 1266 - Disease: Wilson disease (WD) [MIM:277900]
27252 P35670 (ATP7B) D A 1267 rs1555283916 Disease: Wilson disease (WD) [MIM:277900]
27253 P35670 (ATP7B) D V 1267 - Disease: Wilson disease (WD) [MIM:277900]
27254 P35670 (ATP7B) N S 1270 rs121907990 Disease: Wilson disease (WD) [MIM:277900]
27255 P35670 (ATP7B) D N 1271 - Disease: Wilson disease (WD) [MIM:277900]
27256 P35670 (ATP7B) P L 1273 rs758355520 Disease: Wilson disease (WD) [MIM:277900]
27257 P35670 (ATP7B) D G 1279 rs778914828 Disease: Wilson disease (WD) [MIM:277900]
27258 P35670 (ATP7B) D Y 1279 - Disease: Wilson disease (WD) [MIM:277900]
27259 P35670 (ATP7B) G S 1287 rs762866453 Disease: Wilson disease (WD) [MIM:277900]
27260 P35670 (ATP7B) A D 1295 rs1340942427 Disease: Wilson disease (WD) [MIM:277900]
27261 P35670 (ATP7B) D N 1296 rs199821556 Disease: Wilson disease (WD) [MIM:277900]
27262 P35670 (ATP7B) V I 1297 rs148399850 Benign
27263 P35670 (ATP7B) L P 1305 rs377144951 Disease: Wilson disease (WD) [MIM:277900]
27264 P35670 (ATP7B) S R 1310 rs749380700 Disease: Wilson disease (WD) [MIM:277900]
27265 P35670 (ATP7B) R P 1322 rs753330854 Disease: Wilson disease (WD) [MIM:277900]
27266 P35670 (ATP7B) L V 1327 - Disease: Wilson disease (WD) [MIM:277900]
27267 P35670 (ATP7B) A T 1328 rs1333619338 Disease: Wilson disease (WD) [MIM:277900]
27268 P35670 (ATP7B) Y S 1331 rs1131691741 Disease: Wilson disease (WD) [MIM:277900]
27269 P35670 (ATP7B) N D 1332 - Disease: Wilson disease (WD) [MIM:277900]
27270 P35670 (ATP7B) I T 1336 - Disease: Wilson disease (WD) [MIM:277900]
27271 P35670 (ATP7B) G D 1341 rs779494870 Disease: Wilson disease (WD) [MIM:277900]
27272 P35670 (ATP7B) G R 1341 - Disease: Wilson disease (WD) [MIM:277900]
27273 P35670 (ATP7B) G S 1341 rs587783317 Disease: Wilson disease (WD) [MIM:277900]
27274 P35670 (ATP7B) G V 1341 - Disease: Wilson disease (WD) [MIM:277900]
27275 P35670 (ATP7B) P S 1352 rs1388795855 Disease: Wilson disease (WD) [MIM:277900]
27276 P35670 (ATP7B) W R 1353 rs1160679283 Disease: Wilson disease (WD) [MIM:277900]
27277 P35670 (ATP7B) G C 1355 - Disease: Wilson disease (WD) [MIM:277900]
27278 P35670 (ATP7B) G S 1355 rs1555282751 Disease: Wilson disease (WD) [MIM:277900]
27279 P35670 (ATP7B) A S 1358 - Disease: Wilson disease (WD) [MIM:277900]
27280 P35670 (ATP7B) M I 1359 rs759551693 Disease: Wilson disease (WD) [MIM:277900]
27281 P35670 (ATP7B) S F 1363 rs776848753 Disease: Wilson disease (WD) [MIM:277900]
27282 P35670 (ATP7B) L P 1368 rs749171049 Disease: Wilson disease (WD) [MIM:277900]
27283 P35670 (ATP7B) L P 1373 - Disease: Wilson disease (WD) [MIM:277900]
27284 P35670 (ATP7B) L R 1373 rs780811477 Disease: Wilson disease (WD) [MIM:277900]
27285 P35670 (ATP7B) D E 1407 rs587783320 Benign
27286 P35680 (HNF1B) S F 36 rs544890850 Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27287 P35680 (HNF1B) V G 61 rs147816724 Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27288 P35680 (HNF1B) V G 110 rs894213416 Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27289 P35680 (HNF1B) R P 112 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27290 P35680 (HNF1B) Q E 136 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27291 P35680 (HNF1B) S L 148 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27292 P35680 (HNF1B) S W 148 rs121918674 Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27293 P35680 (HNF1B) S P 151 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27294 P35680 (HNF1B) H N 153 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27295 P35680 (HNF1B) K E 156 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27296 P35680 (HNF1B) K Q 164 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27297 P35680 (HNF1B) R H 165 rs121918675 Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27298 P35680 (HNF1B) R Q 235 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27299 P35680 (HNF1B) A T 241 rs761415487 Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27300 P35680 (HNF1B) E D 260 rs536638039 Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27301 P35680 (HNF1B) R G 276 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27302 P35680 (HNF1B) R Q 276 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27303 P35680 (HNF1B) G D 285 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27304 P35680 (HNF1B) R C 295 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27305 P35680 (HNF1B) R H 295 rs886043813 Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27306 P35680 (HNF1B) R P 295 - Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27307 P35680 (HNF1B) G S 370 rs113042313 Disease: Renal cysts and diabetes syndrome (RCAD) [MIM:137920]
27308 P35680 (HNF1B) S R 465 rs121918673 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
27309 P35711 (SOX5) Q P 362 rs144670919 Benign
27310 P35713 (SOX18) W R 95 rs28936693 Disease: Hypotrichosi s- lymphedema-t elangiectasi a syndrome (HLTS) [MIM:607823]
27311 P35713 (SOX18) A P 104 rs28936692 Disease: Hypotrichosi s- lymphedema-t elangiectasi a syndrome (HLTS) [MIM:607823]
27312 P35716 (SOX11) S P 60 rs587777480 Disease: Mental retardation, autosomal dominant 27 (MRD27) [MIM:615866]
27313 P35716 (SOX11) Y C 116 rs587777479 Disease: Mental retardation, autosomal dominant 27 (MRD27) [MIM:615866]
27314 P35749 (MYH11) A T 1104 rs34263860 Benign
27315 P35749 (MYH11) A T 1234 rs16967494 Benign
27316 P35749 (MYH11) V A 1289 rs16967510 Benign
27317 P35749 (MYH11) V M 1310 rs7196804 Benign
27318 P35749 (MYH11) M V 1508 rs35176378 Benign
27319 P35749 (MYH11) R Q 1758 rs142546324 Disease: Aortic aneurysm, familial thoracic 4 (AAT4) [MIM:132900]
27320 P35754 (GLRX) D Y 47 rs4767 Benign
27321 P35789 (ZNF93) D Y 93 rs12151060 Benign
27322 P35790 (CHKA) S G 220 rs17853641 Benign
27323 P35790 (CHKA) L Q 422 rs17853642 Benign
27324 P35858 (IGFALS) C S 60 - Disease: Acid-labile subunit deficiency (ACLSD) [MIM:615961]
27325 P35858 (IGFALS) P L 73 rs766004600 Disease: Acid-labile subunit deficiency (ACLSD) [MIM:615961]
27326 P35858 (IGFALS) L F 97 rs35947557 Benign
27327 P35858 (IGFALS) L P 127 - Disease: Acid-labile subunit deficiency (ACLSD) [MIM:615961]
27328 P35858 (IGFALS) L Q 134 - Disease: Acid-labile subunit deficiency (ACLSD) [MIM:615961]
27329 P35858 (IGFALS) L F 244 rs774634302 Disease: Acid-labile subunit deficiency (ACLSD) [MIM:615961]
27330 P35858 (IGFALS) N S 276 rs551618643 Disease: Acid-labile subunit deficiency (ACLSD) [MIM:615961]
27331 P35858 (IGFALS) P L 307 rs34297640 Benign
27332 P35858 (IGFALS) D N 440 rs776840046 Disease: Acid-labile subunit deficiency (ACLSD) [MIM:615961]
27333 P35858 (IGFALS) P S 498 rs9282730 Benign
27334 P35858 (IGFALS) C R 540 rs121909247 Disease: Acid-labile subunit deficiency (ACLSD) [MIM:615961]
27335 P35858 (IGFALS) R W 548 rs9282731 Benign
27336 P35869 (AHR) P S 517 rs72552768 Benign
27337 P35869 (AHR) R K 554 rs2066853 Benign
27338 P35869 (AHR) V I 570 rs4986826 Benign
27339 P35869 (AHR) M V 786 rs72552769 Benign
27340 P35900 (KRT20) S N 129 rs7212483 Benign
27341 P35908 (KRT2) S G 101 rs2634041 Benign
27342 P35908 (KRT2) Q P 181 rs57510142 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27343 P35908 (KRT2) I N 182 rs61622714 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27344 P35908 (KRT2) N D 186 rs137852631 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27345 P35908 (KRT2) N K 186 rs137852632 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27346 P35908 (KRT2) N Y 186 rs137852631 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27347 P35908 (KRT2) G D 219 rs638043 Benign
27348 P35908 (KRT2) E D 465 - Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27349 P35908 (KRT2) E K 465 rs758760389 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27350 P35908 (KRT2) E K 476 rs56829062 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27351 P35908 (KRT2) E V 476 rs60537449 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27352 P35908 (KRT2) I N 477 - Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27353 P35908 (KRT2) T P 479 rs137852630 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27354 P35908 (KRT2) L P 484 rs61726451 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27355 P35908 (KRT2) E D 487 rs137852628 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27356 P35908 (KRT2) E K 487 rs137852629 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27357 P35908 (KRT2) E K 488 rs61726452 Disease: Ichthyosis bullosa of Siemens (IBS) [MIM:146800]
27358 P35913 (PDE6B) R C 74 rs144590560 Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27359 P35913 (PDE6B) R H 100 rs555600300 Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27360 P35913 (PDE6B) E K 166 rs115775983 Benign
27361 P35913 (PDE6B) Y H 212 rs551545798 Benign
27362 P35913 (PDE6B) Y H 219 rs62295357 Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27363 P35913 (PDE6B) L I 228 rs201584824 Benign
27364 P35913 (PDE6B) L H 228 - Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27365 P35913 (PDE6B) H N 258 rs121918582 Disease: Night blindness, congenital stationary, autosomal dominant 2 (CSNBAD2) [MIM:163500]
27366 P35913 (PDE6B) V I 320 rs10902758 Benign
27367 P35913 (PDE6B) L P 527 rs760766981 Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27368 P35913 (PDE6B) I N 535 rs527236088 Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27369 P35913 (PDE6B) R Q 552 rs751859807 Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27370 P35913 (PDE6B) H Y 557 rs121918581 Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27371 P35913 (PDE6B) G D 576 - Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27372 P35913 (PDE6B) E D 654 rs17849286 Benign
27373 P35913 (PDE6B) L R 699 - Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27374 P35913 (PDE6B) D N 776 rs141563823 Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27375 P35913 (PDE6B) L R 854 - Disease: Retinitis pigmentosa 40 (RP40) [MIM:613801]
27376 P35914 (HMGCL) E K 37 - Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27377 P35914 (HMGCL) R Q 41 rs121964997 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27378 P35914 (HMGCL) D E 42 - Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27379 P35914 (HMGCL) D G 42 rs1467902610 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27380 P35914 (HMGCL) D H 42 - Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27381 P35914 (HMGCL) K N 48 - Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27382 P35914 (HMGCL) V L 70 rs121964996 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27383 P35914 (HMGCL) S R 75 rs1357942068 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27384 P35914 (HMGCL) S F 142 - Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27385 P35914 (HMGCL) R Q 165 rs199587895 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27386 P35914 (HMGCL) C Y 174 rs765475941 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27387 P35914 (HMGCL) F S 192 - Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27388 P35914 (HMGCL) I F 200 - Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27389 P35914 (HMGCL) S Y 201 rs760106433 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27390 P35914 (HMGCL) G E 203 rs1553131940 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27391 P35914 (HMGCL) D N 204 - Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27392 P35914 (HMGCL) H R 233 rs727503963 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27393 P35914 (HMGCL) L P 263 - Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27394 P35914 (HMGCL) E K 279 rs121964998 Disease: 3-hydroxy-3- methylglutar yl-CoA lyase deficiency (HMGCLD) [MIM:246450]
27395 P35916 (FLT4) N D 149 rs34221241 Benign
27396 P35916 (FLT4) T A 494 rs307826 Benign
27397 P35916 (FLT4) N S 527 rs35874891 Benign
27398 P35916 (FLT4) P S 641 rs55667289 Benign
27399 P35916 (FLT4) A T 855 rs121909657 Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27400 P35916 (FLT4) G R 857 rs267606818 Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27401 P35916 (FLT4) H Y 868 rs35171798 Benign
27402 P35916 (FLT4) V M 878 rs121909654 Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27403 P35916 (FLT4) H Q 890 rs448012 Benign
27404 P35916 (FLT4) P S 954 rs34255532 Disease: Hemangioma, capillary infantile (HCI) [MIM:602089]
27405 P35916 (FLT4) Q L 1020 - Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27406 P35916 (FLT4) R Q 1031 rs56082504 Benign
27407 P35916 (FLT4) H Q 1035 - Disease: -
27408 P35916 (FLT4) H R 1035 rs121909653 Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27409 P35916 (FLT4) R P 1041 rs121909650 Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27410 P35916 (FLT4) L P 1044 rs121909651 Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27411 P35916 (FLT4) D N 1049 rs56310180 Benign
27412 P35916 (FLT4) R Q 1075 rs1400220848 Benign
27413 P35916 (FLT4) I T 1086 rs121909655 Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27414 P35916 (FLT4) E K 1106 rs121909656 Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27415 P35916 (FLT4) P L 1114 rs121909652 Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27416 P35916 (FLT4) P S 1137 - Disease: Hemangioma, capillary infantile (HCI) [MIM:602089]
27417 P35916 (FLT4) R H 1146 rs1130379 Benign
27418 P35916 (FLT4) S C 1235 - Disease: Lymphatic malformation 1 (LMPHM1) [MIM:153100]
27419 P35968 (KDR) V M 136 rs35636987 Benign
27420 P35968 (KDR) V I 297 rs2305948 Benign
27421 P35968 (KDR) L V 462 rs56286620 Benign
27422 P35968 (KDR) Q H 472 rs1870377 Benign
27423 P35968 (KDR) C R 482 rs34231037 Disease: Hemangioma, capillary infantile (HCI) [MIM:602089]
27424 P35968 (KDR) G R 539 rs55716939 Benign
27425 P35968 (KDR) T M 689 rs34038364 Benign
27426 P35968 (KDR) D N 814 rs35603373 Benign
27427 P35968 (KDR) V E 848 rs1139776 Benign
27428 P35968 (KDR) V I 952 rs13129474 Benign
27429 P35968 (KDR) A T 1065 rs56302315 Benign
27430 P35968 (KDR) P S 1147 rs121917766 Disease: Hemangioma, capillary infantile (HCI) [MIM:602089]
27431 P36021 (SLC16A2) S F 120 rs113994162 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27432 P36021 (SLC16A2) G R 147 - Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27433 P36021 (SLC16A2) A T 150 rs373279555 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27434 P36021 (SLC16A2) A V 150 rs104894936 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27435 P36021 (SLC16A2) V M 161 - Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27436 P36021 (SLC16A2) R H 197 rs727504155 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27437 P36021 (SLC16A2) G C 208 - Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27438 P36021 (SLC16A2) S F 216 rs398124232 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27439 P36021 (SLC16A2) L R 217 - Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27440 P36021 (SLC16A2) P L 247 - Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27441 P36021 (SLC16A2) I L 323 rs12849411 Benign
27442 P36021 (SLC16A2) L W 360 rs104894939 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27443 P36021 (SLC16A2) R C 371 rs587784384 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27444 P36021 (SLC16A2) D V 379 - Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27445 P36021 (SLC16A2) L P 397 rs122455132 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27446 P36021 (SLC16A2) L P 438 rs104894931 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27447 P36021 (SLC16A2) P L 463 - Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27448 P36021 (SLC16A2) G D 484 - Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27449 P36021 (SLC16A2) G E 490 - Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27450 P36021 (SLC16A2) G R 490 rs794727799 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27451 P36021 (SLC16A2) L P 494 rs104894938 Disease: Monocarboxyl ate transporter 8 deficiency (MCT8 deficiency) [MIM:300523]
27452 P36222 (CHI3L1) R G 145 rs880633 Benign
27453 P36222 (CHI3L1) I T 311 rs1049407 Benign
27454 P36269 (GGT5) L I 11 rs5760274 Benign
27455 P36269 (GGT5) K R 330 rs2275984 Benign
27456 P36269 (GGT5) Q H 332 rs6004105 Benign
27457 P36269 (GGT5) I V 475 rs7288201 Benign
27458 P36382 (GJA5) V I 85 rs387906613 Disease: Atrial fibrillation , familial, 11 (ATFB11) [MIM:614049]
27459 P36382 (GJA5) P S 88 rs121434558 Disease: Atrial standstill 1 (ATRST1) [MIM:108770]
27460 P36382 (GJA5) A S 96 rs121434557 Disease: Atrial standstill 1 (ATRST1) [MIM:108770]
27461 P36382 (GJA5) L I 221 rs387906614 Disease: Atrial fibrillation , familial, 11 (ATFB11) [MIM:614049]
27462 P36382 (GJA5) L M 229 rs387906615 Disease: Atrial fibrillation , familial, 11 (ATFB11) [MIM:614049]
27463 P36404 (ARL2) V A 141 rs664226 Benign
27464 P36405 (ARL3) L M 34 rs1141895 Benign
27465 P36405 (ARL3) R C 149 rs776901858 Disease: Joubert syndrome 35 (JBTS35) [MIM:618161]
27466 P36405 (ARL3) R H 149 rs770782663 Disease: Joubert syndrome 35 (JBTS35) [MIM:618161]
27467 P36406 (TRIM23) D N 480 rs34046496 Benign
27468 P36507 (MAP2K2) F C 57 rs121434497 Disease: Cardiofacioc utaneous syndrome 4 (CFC4) [MIM:615280]
27469 P36507 (MAP2K2) F V 57 rs121434498 Disease: Cardiofacioc utaneous syndrome 4 (CFC4) [MIM:615280]
27470 P36507 (MAP2K2) P Q 128 rs267607230 Disease: Cardiofacioc utaneous syndrome 4 (CFC4) [MIM:615280]
27471 P36507 (MAP2K2) Y H 134 rs121434499 Disease: Cardiofacioc utaneous syndrome 4 (CFC4) [MIM:615280]
27472 P36508 (ZNF76) T M 48 rs2228265 Benign
27473 P36508 (ZNF76) R C 272 rs33959228 Benign
27474 P36508 (ZNF76) R Q 403 rs35582935 Benign
27475 P36543 (ATP6V1E1) L P 128 rs1060505031 Disease: Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402]
27476 P36543 (ATP6V1E1) R W 212 rs1028534806 Disease: Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402]
27477 P36551 (CPOX) V A 135 rs201826432 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27478 P36551 (CPOX) G S 189 rs759347283 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27479 P36551 (CPOX) G W 197 - Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27480 P36551 (CPOX) E K 201 rs1374394802 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27481 P36551 (CPOX) S F 208 rs121917872 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27482 P36551 (CPOX) L R 214 - Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27483 P36551 (CPOX) P R 249 - Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27484 P36551 (CPOX) P S 249 - Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27485 P36551 (CPOX) N H 272 rs1131857 Benign
27486 P36551 (CPOX) G R 279 rs121917874 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27487 P36551 (CPOX) G R 280 - Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27488 P36551 (CPOX) V I 294 rs2228056 Benign
27489 P36551 (CPOX) H D 295 rs121917870 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27490 P36551 (CPOX) R C 328 rs121917873 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27491 P36551 (CPOX) R W 331 rs121917866 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27492 P36551 (CPOX) R C 352 rs11921054 Benign
27493 P36551 (CPOX) K E 404 rs121917868 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27494 P36551 (CPOX) W R 427 - Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27495 P36551 (CPOX) R C 447 rs28931603 Disease: Hereditary coproporphyr ia (HCP) [MIM:121300]
27496 P36575 (ARR3) L F 44 rs11548182 Benign
27497 P36639 (NUDT1) G W 77 rs11547459 Benign
27498 P36639 (NUDT1) V M 124 rs4866 Benign
27499 P36776 (LONP1) E D 87 rs34413649 Benign
27500 P36776 (LONP1) R Q 241 rs11085147 Benign
27501 P36776 (LONP1) E A 476 - Disease: CODAS syndrome (CODASS) [MIM:600373]
27502 P36776 (LONP1) S Y 631 rs879255248 Disease: CODAS syndrome (CODASS) [MIM:600373]
27503 P36776 (LONP1) A V 670 rs770036526 Disease: CODAS syndrome (CODASS) [MIM:600373]
27504 P36776 (LONP1) R C 672 rs777009012 Disease: CODAS syndrome (CODASS) [MIM:600373]
27505 P36776 (LONP1) P S 676 rs879255247 Disease: CODAS syndrome (CODASS) [MIM:600373]
27506 P36776 (LONP1) R H 679 rs549574673 Disease: CODAS syndrome (CODASS) [MIM:600373]
27507 P36776 (LONP1) R G 721 rs147588238 Disease: CODAS syndrome (CODASS) [MIM:600373]
27508 P36776 (LONP1) A V 724 rs879255249 Disease: CODAS syndrome (CODASS) [MIM:600373]
27509 P36776 (LONP1) P S 749 - Disease: CODAS syndrome (CODASS) [MIM:600373]
27510 P36776 (LONP1) G E 767 rs562553348 Disease: CODAS syndrome (CODASS) [MIM:600373]
27511 P36776 (LONP1) A T 829 rs35804229 Benign
27512 P36776 (LONP1) V I 911 rs1062373 Benign
27513 P36871 (PGM1) T A 19 rs1320810473 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27514 P36871 (PGM1) N Y 38 rs587777402 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27515 P36871 (PGM1) Q R 41 rs1300651770 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27516 P36871 (PGM1) D H 62 rs587777403 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27517 P36871 (PGM1) K M 68 rs200390982 Benign
27518 P36871 (PGM1) I V 88 rs855314 Benign
27519 P36871 (PGM1) T A 115 rs121918371 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27520 P36871 (PGM1) G R 121 rs398122912 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27521 P36871 (PGM1) R C 221 rs1126728 Benign
27522 P36871 (PGM1) D G 263 rs1465877146 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27523 P36871 (PGM1) D Y 263 rs587777404 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27524 P36871 (PGM1) G R 291 rs772768778 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27525 P36871 (PGM1) G R 330 rs777164338 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27526 P36871 (PGM1) E K 377 - Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27527 P36871 (PGM1) E K 388 rs1301021797 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27528 P36871 (PGM1) Y H 420 rs11208257 Benign
27529 P36871 (PGM1) V I 501 rs6676290 Benign
27530 P36871 (PGM1) L P 516 rs587777401 Disease: Congenital disorder of glycosylatio n 1T (CDG1T) [MIM:614921]
27531 P36873 (PPP1CC) F S 152 rs11558237 Benign
27532 P36888 (FLT3) D G 7 rs12872889 Benign
27533 P36888 (FLT3) V A 158 rs56321896 Benign
27534 P36888 (FLT3) V M 194 rs146030737 Benign
27535 P36888 (FLT3) T M 227 rs1933437 Benign
27536 P36888 (FLT3) D N 324 rs35602083 Benign
27537 P36888 (FLT3) D V 358 rs34172843 Benign
27538 P36888 (FLT3) I L 417 rs56090538 Benign
27539 P36888 (FLT3) V I 557 rs35958982 Benign
27540 P36894 (BMPR1A) P T 2 rs11528010 Benign
27541 P36894 (BMPR1A) Y D 62 - Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
27542 P36894 (BMPR1A) C Y 82 - Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
27543 P36894 (BMPR1A) C R 124 rs199476087 Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
27544 P36894 (BMPR1A) C R 130 rs1131691168 Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
27545 P36894 (BMPR1A) A D 338 rs199476086 Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
27546 P36894 (BMPR1A) C Y 376 rs199476088 Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
27547 P36894 (BMPR1A) R C 443 rs35619497 Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
27548 P36894 (BMPR1A) V M 450 rs55932635 Benign
27549 P36894 (BMPR1A) M T 470 rs199476089 Disease: Juvenile polyposis syndrome (JPS) [MIM:174900]
27550 P36896 (ACVR1B) F L 146 rs34488074 Benign
27551 P36896 (ACVR1B) L V 408 rs928906 Benign
27552 P36897 (TGFBR1) C Y 41 - Disease: Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
27553 P36897 (TGFBR1) N S 45 rs387906696 Disease: Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
27554 P36897 (TGFBR1) G R 52 rs587776865 Disease: Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
27555 P36897 (TGFBR1) P L 83 rs757374917 Disease: Multiple self-healing squamous epithelioma (MSSE) [MIM:132800]
27556 P36897 (TGFBR1) I V 139 rs148176750 Benign
27557 P36897 (TGFBR1) V I 153 rs56014374 Benign
27558 P36897 (TGFBR1) T I 200 rs121918712 Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27559 P36897 (TGFBR1) K E 232 - Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27560 P36897 (TGFBR1) S L 241 rs111854391 Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27561 P36897 (TGFBR1) D Y 266 - Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27562 P36897 (TGFBR1) Y C 291 rs35974499 Benign
27563 P36897 (TGFBR1) M R 318 rs121918710 Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27564 P36897 (TGFBR1) D G 351 - Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27565 P36897 (TGFBR1) T R 375 - Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27566 P36897 (TGFBR1) D G 400 rs121918711 Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27567 P36897 (TGFBR1) R P 487 rs113605875 Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27568 P36897 (TGFBR1) R Q 487 rs113605875 Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27569 P36897 (TGFBR1) R W 487 rs111426349 Disease: Loeys-Dietz syndrome 1 (LDS1) [MIM:609192]
27570 P36941 (LTBR) V I 274 rs35681405 Benign
27571 P36952 (SERPINB5) S P 176 rs2289519 Benign
27572 P36952 (SERPINB5) V L 187 rs2289520 Benign
27573 P36952 (SERPINB5) I V 319 rs1455555 Benign
27574 P36955 (SERPINF1) T M 72 rs1136287 Benign
27575 P36955 (SERPINF1) P R 132 rs1804145 Benign
27576 P36956 (SREBF1) N S 306 rs17855793 Benign
27577 P36956 (SREBF1) A T 309 rs35188700 Benign
27578 P36956 (SREBF1) V M 417 rs2229590 Benign
27579 P36956 (SREBF1) V M 580 rs36215896 Benign
27580 P36956 (SREBF1) R H 746 rs2228461 Benign
27581 P36956 (SREBF1) S L 834 rs17855792 Benign
27582 P36956 (SREBF1) T A 1000 rs1042017 Benign
27583 P36956 (SREBF1) A P 1008 rs35014224 Benign
27584 P36957 (DLST) P A 213 - Benign
27585 P36957 (DLST) D N 304 - Benign
27586 P36957 (DLST) G E 374 - Disease: Paragangliom as 7 (PGL7) [MIM:618475]
27587 P36957 (DLST) P T 384 - Benign
27588 P36959 (GMPR) A T 234 rs760571328 Benign
27589 P36959 (GMPR) F I 256 rs1042391 Benign
27590 P36969 (GPX4) S N 2 rs8178967 Benign
27591 P36969 (GPX4) A T 120 rs76201145 Benign
27592 P37023 (ACVRL1) K N 8 - Benign
27593 P37023 (ACVRL1) C Y 34 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27594 P37023 (ACVRL1) S C 38 - Benign
27595 P37023 (ACVRL1) C G 41 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27596 P37023 (ACVRL1) C Y 41 rs1184716348 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27597 P37023 (ACVRL1) C G 46 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27598 P37023 (ACVRL1) R P 47 rs774389618 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27599 P37023 (ACVRL1) G R 48 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27600 P37023 (ACVRL1) W C 50 rs121909285 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27601 P37023 (ACVRL1) W G 50 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27602 P37023 (ACVRL1) C Y 51 rs863223409 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27603 P37023 (ACVRL1) T A 52 rs1131691346 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27604 P37023 (ACVRL1) H P 66 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27605 P37023 (ACVRL1) H Y 66 rs1480110873 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27606 P37023 (ACVRL1) R Q 67 rs863223414 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27607 P37023 (ACVRL1) R W 67 rs1085307405 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27608 P37023 (ACVRL1) C R 69 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27609 P37023 (ACVRL1) C F 77 rs1330837892 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27610 P37023 (ACVRL1) C W 77 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27611 P37023 (ACVRL1) N D 96 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27612 P37023 (ACVRL1) N S 96 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27613 P37023 (ACVRL1) E D 111 rs1481094868 Benign
27614 P37023 (ACVRL1) L P 138 - Benign
27615 P37023 (ACVRL1) D Y 176 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27616 P37023 (ACVRL1) D A 179 rs753792569 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27617 P37023 (ACVRL1) T I 197 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27618 P37023 (ACVRL1) G D 211 rs28936687 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27619 P37023 (ACVRL1) G S 211 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27620 P37023 (ACVRL1) E K 215 rs754283265 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27621 P37023 (ACVRL1) W G 217 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27622 P37023 (ACVRL1) G D 219 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27623 P37023 (ACVRL1) G R 223 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27624 P37023 (ACVRL1) V E 226 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27625 P37023 (ACVRL1) K R 229 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27626 P37023 (ACVRL1) S L 233 rs762773076 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27627 P37023 (ACVRL1) Q K 237 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27628 P37023 (ACVRL1) I N 245 rs1804508 Benign
27629 P37023 (ACVRL1) I V 245 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27630 P37023 (ACVRL1) I L 260 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27631 P37023 (ACVRL1) T P 265 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27632 P37023 (ACVRL1) H R 280 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27633 P37023 (ACVRL1) L F 285 rs1085307410 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27634 P37023 (ACVRL1) L P 289 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27635 P37023 (ACVRL1) L R 294 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27636 P37023 (ACVRL1) A P 306 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27637 P37023 (ACVRL1) L V 313 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27638 P37023 (ACVRL1) H Y 314 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27639 P37023 (ACVRL1) H Q 328 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27640 P37023 (ACVRL1) S I 333 rs863223413 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27641 P37023 (ACVRL1) N H 335 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27642 P37023 (ACVRL1) L P 337 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27643 P37023 (ACVRL1) L P 342 - Benign
27644 P37023 (ACVRL1) C R 344 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27645 P37023 (ACVRL1) C Y 344 rs28936688 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27646 P37023 (ACVRL1) A D 347 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27647 P37023 (ACVRL1) A P 347 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27648 P37023 (ACVRL1) R Q 374 rs1060503248 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27649 P37023 (ACVRL1) R W 374 rs28936401 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27650 P37023 (ACVRL1) M R 376 rs28936399 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27651 P37023 (ACVRL1) M V 376 rs1555153277 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27652 P37023 (ACVRL1) P L 378 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27653 P37023 (ACVRL1) P S 378 rs959973779 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27654 P37023 (ACVRL1) E D 379 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27655 P37023 (ACVRL1) E K 379 rs1131691686 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27656 P37023 (ACVRL1) D G 397 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27657 P37023 (ACVRL1) I N 398 rs121909286 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27658 P37023 (ACVRL1) W S 399 rs121909289 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27659 P37023 (ACVRL1) L P 403 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27660 P37023 (ACVRL1) V G 404 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27661 P37023 (ACVRL1) E D 407 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27662 P37023 (ACVRL1) R P 411 rs121909284 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27663 P37023 (ACVRL1) R Q 411 rs121909284 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27664 P37023 (ACVRL1) R W 411 rs121909287 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27665 P37023 (ACVRL1) G S 416 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27666 P37023 (ACVRL1) I F 417 rs141653630 Benign
27667 P37023 (ACVRL1) P R 424 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27668 P37023 (ACVRL1) P T 424 rs1085307419 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27669 P37023 (ACVRL1) F L 425 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27670 P37023 (ACVRL1) F V 425 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27671 P37023 (ACVRL1) Y C 426 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27672 P37023 (ACVRL1) P R 433 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27673 P37023 (ACVRL1) V M 441 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27674 P37023 (ACVRL1) C Y 443 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27675 P37023 (ACVRL1) P S 449 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27676 P37023 (ACVRL1) R L 479 - Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27677 P37023 (ACVRL1) R P 479 rs1085307426 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27678 P37023 (ACVRL1) A V 482 rs139142865 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27679 P37023 (ACVRL1) R W 484 rs121909288 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27680 P37023 (ACVRL1) K T 487 rs1085307428 Disease: Telangiectas ia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
27681 P37058 (HSD17B3) V I 31 rs2066480 Benign
27682 P37058 (HSD17B3) A T 56 rs119481078 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27683 P37058 (HSD17B3) S L 65 rs747329682 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27684 P37058 (HSD17B3) R Q 80 rs119481075 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27685 P37058 (HSD17B3) R W 80 rs119481077 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27686 P37058 (HSD17B3) N S 130 rs119481079 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27687 P37058 (HSD17B3) G R 133 rs747724352 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27688 P37058 (HSD17B3) Q P 176 rs767259718 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27689 P37058 (HSD17B3) A V 203 rs119481076 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27690 P37058 (HSD17B3) V E 205 rs372027264 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27691 P37058 (HSD17B3) F I 208 - Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27692 P37058 (HSD17B3) E D 215 rs115063639 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27693 P37058 (HSD17B3) S L 232 rs28939085 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27694 P37058 (HSD17B3) M V 235 rs119481074 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27695 P37058 (HSD17B3) C Y 268 rs119481080 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27696 P37058 (HSD17B3) P L 282 rs144809928 Disease: Male pseudohermap hrodism with gynecomastia (MPH) [MIM:264300]
27697 P37058 (HSD17B3) G C 289 rs2066479 Benign
27698 P37058 (HSD17B3) G R 289 rs2066479 Benign
27699 P37058 (HSD17B3) G S 289 rs2066479 Benign
27700 P37059 (HSD17B2) A T 121 rs8191136 Benign
27701 P37088 (SCNN1A) F L 61 rs61758859 Disease: Bronchiectas is with or without elevated sweat chloride 2 (BESC2) [MIM:613021]
27702 P37088 (SCNN1A) V I 114 rs61759861 Disease: Bronchiectas is with or without elevated sweat chloride 2 (BESC2) [MIM:613021]
27703 P37088 (SCNN1A) R W 181 rs55797039 Benign
27704 P37088 (SCNN1A) G C 327 rs974854786 Disease: Pseudohypoal dosteronism 1, autosomal recessive (PHA1B) [MIM:264350]
27705 P37088 (SCNN1A) A T 334 rs11542844 Benign
27706 P37088 (SCNN1A) P H 402 rs13306616 Benign
27707 P37088 (SCNN1A) C R 479 rs201873521 Disease: Liddle syndrome 3 (LIDLS3) [MIM:618126]
27708 P37088 (SCNN1A) W R 493 rs5742912 Benign
27709 P37088 (SCNN1A) S L 562 rs137852635 Disease: Pseudohypoal dosteronism 1, autosomal recessive (PHA1B) [MIM:264350]
27710 P37088 (SCNN1A) V I 573 rs59142484 Benign
27711 P37088 (SCNN1A) C F 618 rs3741913 Benign
27712 P37088 (SCNN1A) T A 663 rs2228576 Benign
27713 P37108 (SRP14) P S 51 rs1802601 Benign
27714 P37108 (SRP14) S I 68 rs1802600 Benign
27715 P37108 (SRP14) P A 124 rs7535 Benign
27716 P37108 (SRP14) T A 125 rs200831083 Benign
27717 P37108 (SRP14) A T 127 rs16924521 Benign
27718 P37108 (SRP14) T A 130 rs4814 Benign
27719 P37173 (TGFBR2) M V 36 rs17025864 Benign
27720 P37173 (TGFBR2) R H 190 rs780542125 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27721 P37173 (TGFBR2) V I 191 rs56105708 Benign
27722 P37173 (TGFBR2) D V 247 rs761231369 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27723 P37173 (TGFBR2) L P 308 rs28934568 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27724 P37173 (TGFBR2) T M 315 rs34833812 Disease: Hereditary non- polyposis colorectal cancer 6 (HNPCC6) [MIM:614331]
27725 P37173 (TGFBR2) T P 325 - Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27726 P37173 (TGFBR2) Y N 336 rs104893812 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27727 P37173 (TGFBR2) A P 355 rs104893813 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27728 P37173 (TGFBR2) G R 357 - Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27729 P37173 (TGFBR2) G W 357 rs104893814 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27730 P37173 (TGFBR2) M I 373 rs35719192 Benign
27731 P37173 (TGFBR2) H R 377 rs1553630274 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27732 P37173 (TGFBR2) V A 439 rs1050833 Benign
27733 P37173 (TGFBR2) D N 446 rs886039551 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27734 P37173 (TGFBR2) S F 449 rs104893807 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27735 P37173 (TGFBR2) M K 457 - Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27736 P37173 (TGFBR2) R C 460 rs104893811 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27737 P37173 (TGFBR2) R H 460 rs104893816 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27738 P37173 (TGFBR2) G V 509 rs863223853 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27739 P37173 (TGFBR2) I F 510 - Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27740 P37173 (TGFBR2) I S 510 - Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27741 P37173 (TGFBR2) C R 514 rs193922664 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27742 P37173 (TGFBR2) W R 521 - Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27743 P37173 (TGFBR2) E Q 526 rs121918714 Disease: Esophageal cancer (ESCR) [MIM:133239]
27744 P37173 (TGFBR2) R C 528 rs104893810 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27745 P37173 (TGFBR2) R H 528 rs104893815 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27746 P37173 (TGFBR2) T I 530 - Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27747 P37173 (TGFBR2) R C 537 rs104893809 Disease: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]
27748 P37198 (NUP62) G S 139 rs3745489 Benign
27749 P37198 (NUP62) A S 233 rs2290772 Benign
27750 P37198 (NUP62) S T 283 rs1062798 Benign
27751 P37198 (NUP62) Q P 391 rs121917865 Disease: Infantile striatonigra l degeneration (SNDI) [MIM:271930]
27752 P37231 (PPARG) P A 12 rs1801282 Benign
27753 P37231 (PPARG) P A 40 rs1805192 Benign
27754 P37231 (PPARG) P Q 113 rs1800571 Disease: Obesity (OBESITY) [MIM:601665]
27755 P37231 (PPARG) V M 318 rs72551362 Benign
27756 P37231 (PPARG) F L 388 rs72551363 Disease: Lipodystroph y, familial partial, 3 (FPLD3) [MIM:604367]
27757 P37231 (PPARG) R C 425 rs72551364 Disease: Lipodystroph y, familial partial, 3 (FPLD3) [MIM:604367]
27758 P37231 (PPARG) P L 495 rs121909244 Benign
27759 P37268 (FDFT1) K R 45 rs4731 Benign
27760 P37268 (FDFT1) L P 392 rs1804473 Benign
27761 P37275 (ZEB1) N T 78 rs80194531 Disease: Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
27762 P37275 (ZEB1) G R 90 rs12217419 Benign
27763 P37275 (ZEB1) K R 553 rs35753967 Benign
27764 P37275 (ZEB1) Q H 640 rs779148597 Disease: Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
27765 P37275 (ZEB1) P A 649 rs781750314 Disease: Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
27766 P37275 (ZEB1) N S 696 rs567252241 Disease: Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
27767 P37275 (ZEB1) Q P 810 rs199944415 Disease: Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
27768 P37275 (ZEB1) Q P 840 rs118020901 Disease: Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
27769 P37275 (ZEB1) A G 905 rs78449005 Disease: Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
27770 P37275 (ZEB1) A T 905 - Disease: Corneal dystrophy, Fuchs endothelial, 6 (FECD6) [MIM:613270]
27771 P37287 (PIGA) R W 19 rs34422225 Disease: Paroxysmal nocturnal hemoglobinur ia 1 (PNH1) [MIM:300818]
27772 P37287 (PIGA) D H 40 - Disease: Paroxysmal nocturnal hemoglobinur ia 1 (PNH1) [MIM:300818]
27773 P37287 (PIGA) G A 48 - Disease: Paroxysmal nocturnal hemoglobinur ia 1 (PNH1) [MIM:300818]
27774 P37287 (PIGA) G D 48 - Disease: Paroxysmal nocturnal hemoglobinur ia 1 (PNH1) [MIM:300818]
27775 P37287 (PIGA) G V 48 - Disease: Paroxysmal nocturnal hemoglobinur ia 1 (PNH1) [MIM:300818]
27776 P37287 (PIGA) R L 77 rs587777398 Disease: Multiple congenital anomalies- hypotonia- seizures syndrome 2 (MCAHS2) [MIM:300868]
27777 P37287 (PIGA) P L 93 rs587777400 Disease: Multiple congenital anomalies- hypotonia- seizures syndrome 2 (MCAHS2) [MIM:300868]
27778 P37287 (PIGA) R W 119 rs587777396 Disease: Multiple congenital anomalies- hypotonia- seizures syndrome 2 (MCAHS2) [MIM:300868]
27779 P37287 (PIGA) H R 128 - Disease: Paroxysmal nocturnal hemoglobinur ia 1 (PNH1) [MIM:300818]
27780 P37287 (PIGA) A V 135 - Disease: -
27781 P37287 (PIGA) S F 155 - Disease: Paroxysmal nocturnal hemoglobinur ia 1 (PNH1) [MIM:300818]
27782 P37287 (PIGA) I F 206 rs201119959 Disease: Multiple congenital anomalies- hypotonia- seizures syndrome 2 (MCAHS2) [MIM:300868]
27783 P37287 (PIGA) G R 239 - Disease: Paroxysmal nocturnal hemoglobinur ia 1 (PNH1) [MIM:300818]
27784 P37287 (PIGA) N D 297 - Disease: Paroxysmal nocturnal hemoglobinur ia 1 (PNH1) [MIM:300818]
27785 P37288 (AVPR1A) G S 6 rs2228154 Benign
27786 P37802 (TAGLN2) L Q 69 rs17849636 Benign
27787 P37840 (SNCA) A P 30 rs104893878 Disease: Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]
27788 P37840 (SNCA) E K 46 rs104893875 Disease: Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]
27789 P37840 (SNCA) H Q 50 rs201106962 Disease: Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]
27790 P37840 (SNCA) A T 53 rs104893877 Disease: Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601]
27791 P38117 (ETFB) D N 128 rs104894678 Disease: Glutaric aciduria 2B (GA2B) [MIM:231680]
27792 P38117 (ETFB) T M 154 rs1130426 Benign
27793 P38117 (ETFB) R Q 164 rs104894677 Disease: Glutaric aciduria 2B (GA2B) [MIM:231680]
27794 P38398 (BRCA1) E K 10 - Disease: Breast- ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
27795 P38398 (BRCA1) L S 22 rs80357438 Disease: Breast cancer (BC) [MIM:114480]
27796 P38398 (BRCA1) E K 23 - Disease: Breast- ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
27797 P38398 (BRCA1) C G 61 rs28897672 Disease: Ovarian cancer (OC) [MIM:167000]
27798 P38398 (BRCA1) C Y 64 rs55851803 Benign
27799 P38398 (BRCA1) C G 64 rs80357064 Disease: Breast cancer (BC) [MIM:114480]
27800 P38398 (BRCA1) Y C 105 rs28897673 Benign
27801 P38398 (BRCA1) S R 153 rs28897674 Benign
27802 P38398 (BRCA1) H R 239 rs80357396 Benign
27803 P38398 (BRCA1) V M 271 rs80357244 Disease: Breast cancer (BC) [MIM:114480]
27804 P38398 (BRCA1) G S 275 rs8176153 Benign
27805 P38398 (BRCA1) Q R 356 rs1799950 Benign
27806 P38398 (BRCA1) I M 379 rs56128296 Benign
27807 P38398 (BRCA1) F L 461 rs56046357 Disease: Breast cancer (BC) [MIM:114480]
27808 P38398 (BRCA1) Y D 465 rs397508869 Disease: Breast cancer (BC) [MIM:114480]
27809 P38398 (BRCA1) G V 552 rs397508893 Disease: Breast cancer (BC) [MIM:114480]
27810 P38398 (BRCA1) N I 656 - Benign
27811 P38398 (BRCA1) D N 693 rs4986850 Benign
27812 P38398 (BRCA1) N D 723 rs4986845 Benign
27813 P38398 (BRCA1) D Y 749 rs80357114 Disease: Breast cancer (BC) [MIM:114480]
27814 P38398 (BRCA1) V A 772 rs80357467 Benign
27815 P38398 (BRCA1) K E 820 rs56082113 Benign
27816 P38398 (BRCA1) R C 866 rs41286300 Benign
27817 P38398 (BRCA1) P L 871 rs799917 Benign
27818 P38398 (BRCA1) L S 892 rs397508994 Disease: Breast cancer (BC) [MIM:114480]
27819 P38398 (BRCA1) I L 925 rs4986847 Benign
27820 P38398 (BRCA1) G D 960 rs397509022 Disease: Breast cancer (BC) [MIM:114480]
27821 P38398 (BRCA1) F S 989 rs4986848 Benign
27822 P38398 (BRCA1) M I 1008 rs1800704 Benign
27823 P38398 (BRCA1) T I 1025 rs397509034 Disease: Breast cancer (BC) [MIM:114480]
27824 P38398 (BRCA1) E G 1038 rs16941 Benign
27825 P38398 (BRCA1) S N 1040 rs4986852 Benign
27826 P38398 (BRCA1) V A 1047 rs397509037 Disease: Breast cancer (BC) [MIM:114480]
27827 P38398 (BRCA1) E A 1060 rs80357184 Benign
27828 P38398 (BRCA1) P S 1150 rs80357272 Disease: Breast cancer (BC) [MIM:114480]
27829 P38398 (BRCA1) K R 1183 rs16942 Benign
27830 P38398 (BRCA1) S I 1187 - Disease: Breast- ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
27831 P38398 (BRCA1) Q H 1200 rs56214134 Disease: Breast- ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
27832 P38398 (BRCA1) R I 1204 - Disease: Breast cancer (BC) [MIM:114480]
27833 P38398 (BRCA1) K N 1207 - Disease: Breast cancer (BC) [MIM:114480]
27834 P38398 (BRCA1) S Y 1217 - Disease: Breast- ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
27835 P38398 (BRCA1) F L 1226 - Disease: Breast- ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
27836 P38398 (BRCA1) R G 1243 - Disease: Breast- ovarian cancer, familial, 1 (BROVCA1) [MIM:604370]
27837 P38398 (BRCA1) E K 1250 rs28897686 Benign
27838 P38398 (BRCA1) R G 1347 rs28897689 Benign
27839 P38398 (BRCA1) K N 1406 rs1800707 Benign
27840 P38398 (BRCA1) S P 1431 - Benign
27841 P38398 (BRCA1) R Q 1443 rs4986849 Benign
27842 P38398 (BRCA1) S I 1512 rs1800744 Benign
27843 P38398 (BRCA1) S G 1613 rs1799966 Benign
27844 P38398 (BRCA1) T A 1620 rs8176219 Benign
27845 P38398 (BRCA1) A G 1623 rs80356862 Benign
27846 P38398 (BRCA1) P L 1637 rs80357048 Benign
27847 P38398 (BRCA1) M I 1652 rs1799967 Benign
27848 P38398 (BRCA1) F C 1662 rs28897695 Benign
27849 P38398 (BRCA1) V M 1665 rs80357169 Benign
27850 P38398 (BRCA1) T I 1685 rs80357043 Benign
27851 P38398 (BRCA1) C R 1697 rs80356993 Disease: Ovarian cancer (OC) [MIM:167000]
27852 P38398 (BRCA1) R W 1699 rs55770810 Disease: Ovarian cancer (OC) [MIM:167000]
27853 P38398 (BRCA1) A E 1708 rs28897696 Disease: Breast cancer (BC) [MIM:114480]
27854 P38398 (BRCA1) V G 1713 - Benign
27855 P38398 (BRCA1) M K 1775 rs41293463 Disease: Breast cancer (BC) [MIM:114480]
27856 P38398 (BRCA1) M R 1775 rs41293463 Disease: Breast cancer (BC) [MIM:114480]
27857 P38405 (GNAL) V F 16 rs1039372506 Benign
27858 P38405 (GNAL) V M 137 rs398122923 Disease: Dystonia 25 (DYT25) [MIM:615073]
27859 P38405 (GNAL) E K 155 rs398122925 Disease: Dystonia 25 (DYT25) [MIM:615073]
27860 P38435 (GGCX) F S 299 rs121909677 Disease: Pseudoxantho ma elasticum- like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
27861 P38435 (GGCX) R Q 325 rs699664 Benign
27862 P38435 (GGCX) L R 394 rs121909675 Disease: Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]
27863 P38435 (GGCX) R C 476 rs121909681 Disease: Pseudoxantho ma elasticum- like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
27864 P38435 (GGCX) R H 476 rs121909682 Disease: Pseudoxantho ma elasticum- like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
27865 P38435 (GGCX) R P 485 rs121909676 Disease: Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]
27866 P38435 (GGCX) W S 493 rs121909679 Disease: Pseudoxantho ma elasticum- like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
27867 P38435 (GGCX) W S 501 rs28928872 Disease: Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]
27868 P38435 (GGCX) G R 558 rs121909678 Disease: Pseudoxantho ma elasticum- like disorder with multiple coagulation factor deficiency (PXEL-MCFD) [MIM:610842]
27869 P38484 (IFNGR2) T R 58 rs4986958 Benign
27870 P38484 (IFNGR2) Q R 64 rs9808753 Benign
27871 P38484 (IFNGR2) R C 114 rs1243506079 Disease: Immunodefici ency 28 (IMD28) [MIM:614889]
27872 P38484 (IFNGR2) S F 124 - Disease: Immunodefici ency 28 (IMD28) [MIM:614889]
27873 P38484 (IFNGR2) G R 141 rs1196094724 Disease: Immunodefici ency 28 (IMD28) [MIM:614889]
27874 P38484 (IFNGR2) E K 147 rs17878639 Benign
27875 P38484 (IFNGR2) T N 168 rs74315444 Disease: Immunodefici ency 28 (IMD28) [MIM:614889]
27876 P38484 (IFNGR2) K E 182 rs17878711 Benign
27877 P38484 (IFNGR2) G R 227 - Disease: Immunodefici ency 28 (IMD28) [MIM:614889]
27878 P38567 (SPAM1) V A 47 rs34633019 Benign
27879 P38570 (ITGAE) D E 360 - Benign
27880 P38570 (ITGAE) I V 477 rs220479 Benign
27881 P38570 (ITGAE) R Q 482 rs2272606 Benign
27882 P38570 (ITGAE) Q H 892 rs3744679 Benign
27883 P38570 (ITGAE) R W 950 rs1716 Benign
27884 P38570 (ITGAE) V A 1019 rs2976230 Benign
27885 P38570 (ITGAE) C S 1041 - Benign
27886 P38571 (LIPA) T P 16 rs1051338 Benign
27887 P38571 (LIPA) G R 23 rs1051339 Benign
27888 P38571 (LIPA) V L 29 rs17850891 Benign
27889 P38571 (LIPA) H P 129 - Disease: Cholesteryl ester storage disease (CESD) [MIM:278000]
27890 P38571 (LIPA) H R 129 rs1423914418 Disease: Cholesteryl ester storage disease (CESD) [MIM:278000]
27891 P38571 (LIPA) L P 200 rs121965086 Disease: Wolman disease (WOD) [MIM:278000]
27892 P38571 (LIPA) F S 228 rs2228159 Benign
27893 P38606 (ATP6V1A) G D 72 rs1060505037 Disease: Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403]
27894 P38606 (ATP6V1A) D Y 100 rs1553709855 Disease: Epileptic encephalopat hy, infantile or early childhood, 3 (IECEE3) [MIM:618012]
27895 P38606 (ATP6V1A) R C 338 rs1060505036 Disease: Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403]
27896 P38606 (ATP6V1A) D N 349 rs1553710664 Disease: Epileptic encephalopat hy, infantile or early childhood, 3 (IECEE3) [MIM:618012]
27897 P38646 (HSPA9) Q R 74 rs17856004 Benign
27898 P38646 (HSPA9) R W 126 rs751478142 Disease: Even-plus syndrome (EVPLS) [MIM:616854]
27899 P38646 (HSPA9) R G 127 rs35091799 Benign
27900 P38646 (HSPA9) Y C 128 rs765368797 Disease: Even-plus syndrome (EVPLS) [MIM:616854]
27901 P38646 (HSPA9) H Y 184 - Benign
27902 P38646 (HSPA9) S L 200 rs199715716 Benign
27903 P38646 (HSPA9) A G 225 rs34558740 Benign
27904 P38646 (HSPA9) T K 539 - Benign
27905 P38646 (HSPA9) R W 573 rs147723579 Benign
27906 P38646 (HSPA9) E K 577 rs905439101 Benign
27907 P38919 (EIF4A3) D G 270 rs587777204 Disease: Richieri- Costa- Pereira syndrome (RCPS) [MIM:268305]
27908 P38935 (IGHMBP2) L P 17 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27909 P38935 (IGHMBP2) A T 75 rs2228206 Benign
27910 P38935 (IGHMBP2) L P 192 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27911 P38935 (IGHMBP2) Q R 196 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27912 P38935 (IGHMBP2) L S 201 rs560096 Benign
27913 P38935 (IGHMBP2) F V 202 rs724159958 Disease: Charcot- Marie-Tooth disease 2S (CMT2S) [MIM:616155]
27914 P38935 (IGHMBP2) H R 213 rs137852666 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27915 P38935 (IGHMBP2) P L 216 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27916 P38935 (IGHMBP2) T A 221 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27917 P38935 (IGHMBP2) C R 241 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27918 P38935 (IGHMBP2) L P 251 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27919 P38935 (IGHMBP2) I V 275 rs10896380 Benign
27920 P38935 (IGHMBP2) E K 334 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27921 P38935 (IGHMBP2) L P 361 rs201060167 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27922 P38935 (IGHMBP2) L P 364 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27923 P38935 (IGHMBP2) F L 369 rs137852670 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27924 P38935 (IGHMBP2) V G 373 rs724159959 Disease: Charcot- Marie-Tooth disease 2S (CMT2S) [MIM:616155]
27925 P38935 (IGHMBP2) E K 382 rs776730737 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27926 P38935 (IGHMBP2) W R 386 rs759641927 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27927 P38935 (IGHMBP2) L P 426 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27928 P38935 (IGHMBP2) H P 445 rs571142182 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27929 P38935 (IGHMBP2) L P 472 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27930 P38935 (IGHMBP2) T I 493 rs780594709 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27931 P38935 (IGHMBP2) E K 514 rs137852665 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27932 P38935 (IGHMBP2) A T 528 rs724159960 Disease: Charcot- Marie-Tooth disease 2S (CMT2S) [MIM:616155]
27933 P38935 (IGHMBP2) P A 557 rs7122089 Benign
27934 P38935 (IGHMBP2) D N 565 rs770111639 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27935 P38935 (IGHMBP2) L P 577 rs1483165002 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27936 P38935 (IGHMBP2) V I 580 rs137852667 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27937 P38935 (IGHMBP2) R S 581 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27938 P38935 (IGHMBP2) N I 583 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27939 P38935 (IGHMBP2) G C 586 - Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27940 P38935 (IGHMBP2) R C 603 rs1465803265 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27941 P38935 (IGHMBP2) R H 603 rs151079750 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27942 P38935 (IGHMBP2) R C 637 rs201563456 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27943 P38935 (IGHMBP2) T A 671 rs622082 Benign
27944 P38935 (IGHMBP2) R W 694 rs2236654 Benign
27945 P38935 (IGHMBP2) T K 879 rs17612126 Benign
27946 P38935 (IGHMBP2) E K 928 rs2275996 Benign
27947 P38935 (IGHMBP2) D E 974 rs147674615 Disease: Neuronopathy , distal hereditary motor, 6 (HMN6) [MIM:604320]
27948 P38936 (CDKN1A) P L 4 rs4986866 Benign
27949 P38936 (CDKN1A) S R 31 rs1801270 Benign
27950 P38936 (CDKN1A) F L 63 rs4986867 Benign
27951 P39019 (RPS19) V F 15 rs104894717 Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27952 P39019 (RPS19) A P 17 rs782329429 Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27953 P39019 (RPS19) L P 18 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27954 P39019 (RPS19) L R 18 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27955 P39019 (RPS19) F S 21 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27956 P39019 (RPS19) P L 47 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27957 P39019 (RPS19) W C 52 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27958 P39019 (RPS19) W R 52 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27959 P39019 (RPS19) T M 55 rs147508369 Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27960 P39019 (RPS19) R Q 56 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27961 P39019 (RPS19) A P 57 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27962 P39019 (RPS19) S F 59 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27963 P39019 (RPS19) A E 61 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27964 P39019 (RPS19) R Q 62 rs1555841301 Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27965 P39019 (RPS19) R W 62 rs104894711 Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27966 P39019 (RPS19) L P 64 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27967 P39019 (RPS19) T P 76 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27968 P39019 (RPS19) R H 101 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27969 P39019 (RPS19) G R 120 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27970 P39019 (RPS19) G E 127 rs786200936 Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27971 P39019 (RPS19) L P 131 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27972 P39019 (RPS19) L R 131 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27973 P39019 (RPS19) A T 135 - Disease: Diamond- Blackfan anemia 1 (DBA1) [MIM:105650]
27974 P39059 (COL15A1) R H 163 rs2075662 Benign
27975 P39059 (COL15A1) M V 204 rs2075663 Benign
27976 P39059 (COL15A1) T M 391 rs10988532 Benign
27977 P39059 (COL15A1) A T 442 rs16918128 Benign
27978 P39059 (COL15A1) G R 446 rs35934703 Benign
27979 P39059 (COL15A1) G V 504 rs2297603 Benign
27980 P39059 (COL15A1) E D 506 rs35250850 Benign
27981 P39059 (COL15A1) P R 531 rs35529307 Benign
27982 P39059 (COL15A1) P L 705 rs41308900 Benign
27983 P39059 (COL15A1) K R 989 rs35642150 Benign
27984 P39059 (COL15A1) K R 1001 rs35544077 Benign
27985 P39059 (COL15A1) V I 1332 rs10519 Benign
27986 P39060 (COL18A1) Q L 49 rs61735029 Benign
27987 P39060 (COL18A1) G R 111 rs114139997 Benign
27988 P39060 (COL18A1) A T 288 rs11702494 Benign
27989 P39060 (COL18A1) T M 379 rs8133886 Benign
27990 P39060 (COL18A1) V I 1076 rs62000962 Benign
27991 P39060 (COL18A1) P R 1121 rs79980197 Benign
27992 P39060 (COL18A1) Q H 1195 rs2230693 Benign
27993 P39060 (COL18A1) D N 1675 rs12483377 Benign
27994 P39086 (GRIK1) A V 332 rs143252117 Benign
27995 P39086 (GRIK1) I V 757 rs363494 Benign
27996 P39086 (GRIK1) R Q 862 rs761410270 Benign
27997 P39086 (GRIK1) A V 870 rs363503 Benign
27998 P39086 (GRIK1) L S 902 rs363504 Benign
27999 P39210 (MPV17) A P 23 - Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28000 P39210 (MPV17) R Q 41 rs140992482 Disease: Charcot- Marie-Tooth disease, axonal, 2EE (CMT2EE) [MIM:618400]
28001 P39210 (MPV17) R W 41 rs863224072 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28002 P39210 (MPV17) R Q 50 rs121909721 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28003 P39210 (MPV17) R W 50 rs121909723 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28004 P39210 (MPV17) P R 64 rs375401970 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28005 P39210 (MPV17) K E 88 rs267607256 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28006 P39210 (MPV17) D G 92 - Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28007 P39210 (MPV17) Q P 93 - Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28008 P39210 (MPV17) G R 94 rs267607257 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28009 P39210 (MPV17) P L 98 rs267607258 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28010 P39210 (MPV17) R M 154 rs886044113 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28011 P39210 (MPV17) A D 162 rs267607259 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28012 P39210 (MPV17) N K 166 rs121909722 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28013 P39210 (MPV17) S F 170 rs267607260 Disease: Mitochondria l DNA depletion syndrome 6 (MTDPS6) [MIM:256810]
28014 P39656 (DDOST) R G 8 rs537816 Benign
28015 P39656 (DDOST) G D 217 rs387906831 Disease: Congenital disorder of glycosylatio n 1R (CDG1R) [MIM:614507]
28016 P39877 (PLA2G5) G C 45 rs387906795 Disease: Fleck retina, familial benign (FRFB) [MIM:228980]
28017 P39877 (PLA2G5) G S 49 rs387906796 Disease: Fleck retina, familial benign (FRFB) [MIM:228980]
28018 P39900 (MMP12) N S 357 rs652438 Benign
28019 P39900 (MMP12) G R 469 rs28381701 Benign
28020 P39905 (GDNF) D N 150 rs76466003 Benign
28021 P39905 (GDNF) T S 154 rs104893891 Disease: Hirschsprung disease 3 (HSCR3) [MIM:613711]
28022 P39905 (GDNF) I M 211 rs121918536 Disease: Hirschsprung disease 3 (HSCR3) [MIM:613711]
28023 P40121 (CAPG) V I 41 rs2229668 Benign
28024 P40121 (CAPG) R W 198 rs11539103 Benign
28025 P40121 (CAPG) H R 335 rs6886 Benign
28026 P40123 (CAP2) T A 311 rs34620829 Benign
28027 P40123 (CAP2) Y C 316 rs34206659 Benign
28028 P40145 (ADCY8) A T 80 rs2228949 Benign
28029 P40189 (IL6ST) L V 8 rs1063560 Benign
28030 P40189 (IL6ST) G R 148 rs2228044 Benign
28031 P40189 (IL6ST) L V 397 rs2228043 Benign
28032 P40189 (IL6ST) N Y 404 - Disease: Hyper-IgE recurrent infection syndrome 4, autosomal recessive (HIES4) [MIM:618523]
28033 P40189 (IL6ST) I T 454 rs2228046 Benign
28034 P40189 (IL6ST) P L 498 - Disease: Hyper-IgE recurrent infection syndrome 4, autosomal recessive (HIES4) [MIM:618523]
28035 P40189 (IL6ST) V I 499 rs34417936 Benign
28036 P40198 (CEACAM3) S P 7 rs1041999 Benign
28037 P40199 (CEACAM6) G V 239 rs11548735 Benign
28038 P40200 (CD96) A P 142 rs2276872 Benign
28039 P40200 (CD96) T M 280 rs119477056 Disease: C syndrome (CSYN) [MIM:211750]
28040 P40225 (THPO) L P 14 rs1042346 Benign
28041 P40225 (THPO) G E 116 rs1126665 Benign
28042 P40227 (CCT6A) Y C 229 rs33922584 Benign
28043 P40238 (MPL) K N 39 rs17292650 Benign
28044 P40238 (MPL) A V 58 rs6087 Benign
28045 P40238 (MPL) R C 102 rs763568293 Disease: Congenital amegakaryocy tic thrombocytop enia (CAMT) [MIM:604498]
28046 P40238 (MPL) R P 102 rs28928907 Disease: Congenital amegakaryocy tic thrombocytop enia (CAMT) [MIM:604498]
28047 P40238 (MPL) F S 104 rs1196161699 Disease: Congenital amegakaryocy tic thrombocytop enia (CAMT) [MIM:604498]
28048 P40238 (MPL) P L 106 rs750046020 Disease: Thrombocythe mia 2 (THCYT2) [MIM:601977]
28049 P40238 (MPL) V M 114 rs12731981 Benign
28050 P40238 (MPL) P L 136 rs764904424 Disease: Congenital amegakaryocy tic thrombocytop enia (CAMT) [MIM:604498]
28051 P40238 (MPL) W R 154 rs758428763 Disease: Congenital amegakaryocy tic thrombocytop enia (CAMT) [MIM:604498]
28052 P40238 (MPL) E K 168 rs6088 Benign
28053 P40238 (MPL) R L 257 - Disease: Congenital amegakaryocy tic thrombocytop enia (CAMT) [MIM:604498]
28054 P40238 (MPL) P T 275 rs28928908 Disease: Congenital amegakaryocy tic thrombocytop enia (CAMT) [MIM:604498]
28055 P40238 (MPL) W C 435 rs1006158872 Disease: Congenital amegakaryocy tic thrombocytop enia (CAMT) [MIM:604498]
28056 P40238 (MPL) S N 505 rs121913614 Disease: Thrombocythe mia 2 (THCYT2) [MIM:601977]
28057 P40238 (MPL) W K 515 rs121913616 Disease: Myelofibrosi s with myeloid metaplasia (MMM) [MIM:254450]
28058 P40238 (MPL) W L 515 rs121913615 Disease: Thrombocythe mia 2 (THCYT2) [MIM:601977]
28059 P40238 (MPL) L W 594 rs1448812001 Disease: Congenital amegakaryocy tic thrombocytop enia (CAMT) [MIM:604498]
28060 P40259 (CD79B) G S 137 rs121912424 Disease: Agammaglobul inemia 6, autosomal recessive (AGM6) [MIM:612692]
28061 P40305 (IFI27) S F 109 rs2227974 Benign
28062 P40313 (CTRL) T I 150 rs11552953 Benign
28063 P40313 (CTRL) H R 173 rs1134760 Benign
28064 P40337 (VHL) P L 25 rs35460768 Disease: Pheochromocy toma (PCC) [MIM:171300]
28065 P40337 (VHL) S P 38 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28066 P40337 (VHL) E K 52 rs373068386 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28067 P40337 (VHL) L P 63 rs104893827 Disease: Pheochromocy toma (PCC) [MIM:171300]
28068 P40337 (VHL) R P 64 rs104893826 Disease: Pheochromocy toma (PCC) [MIM:171300]
28069 P40337 (VHL) S A 65 rs869025616 Disease: Pheochromocy toma (PCC) [MIM:171300]
28070 P40337 (VHL) S L 65 rs5030826 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28071 P40337 (VHL) S W 65 rs5030826 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28072 P40337 (VHL) S W 68 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28073 P40337 (VHL) E K 70 rs5030802 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28074 P40337 (VHL) V G 74 rs5030803 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28075 P40337 (VHL) F I 76 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28076 P40337 (VHL) F L 76 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28077 P40337 (VHL) F S 76 rs730882033 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28078 P40337 (VHL) N H 78 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28079 P40337 (VHL) N S 78 rs5030804 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28080 P40337 (VHL) N T 78 rs5030804 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28081 P40337 (VHL) R P 79 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28082 P40337 (VHL) S I 80 rs5030805 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28083 P40337 (VHL) S N 80 rs5030805 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28084 P40337 (VHL) S R 80 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28085 P40337 (VHL) P S 81 rs104893829 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28086 P40337 (VHL) R P 82 rs794726890 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28087 P40337 (VHL) V L 84 rs5030827 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28088 P40337 (VHL) P A 86 rs398123481 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28089 P40337 (VHL) P H 86 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28090 P40337 (VHL) P L 86 rs730882034 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28091 P40337 (VHL) P R 86 rs730882034 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28092 P40337 (VHL) P S 86 rs398123481 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28093 P40337 (VHL) W R 88 rs1553619431 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28094 P40337 (VHL) W S 88 rs119103277 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28095 P40337 (VHL) L P 89 rs5030807 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28096 P40337 (VHL) F L 91 rs1060503563 Benign
28097 P40337 (VHL) G C 93 rs5030808 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28098 P40337 (VHL) G D 93 rs1553619440 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28099 P40337 (VHL) G S 93 rs5030808 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28100 P40337 (VHL) Q P 96 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28101 P40337 (VHL) Y H 98 rs5030809 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28102 P40337 (VHL) L G 101 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28103 P40337 (VHL) L R 101 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28104 P40337 (VHL) G A 104 rs869025630 Benign
28105 P40337 (VHL) T P 105 rs1553619461 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28106 P40337 (VHL) R G 107 rs397516440 Disease: Pheochromocy toma (PCC) [MIM:171300]
28107 P40337 (VHL) R P 107 rs193922609 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28108 P40337 (VHL) H Y 110 rs17855706 Benign
28109 P40337 (VHL) S C 111 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28110 P40337 (VHL) S N 111 rs869025631 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28111 P40337 (VHL) S R 111 rs765978945 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28112 P40337 (VHL) Y H 112 rs104893824 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28113 P40337 (VHL) Y N 112 rs104893824 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28114 P40337 (VHL) G C 114 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28115 P40337 (VHL) G R 114 rs869025636 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28116 P40337 (VHL) G S 114 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28117 P40337 (VHL) H Q 115 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28118 P40337 (VHL) H R 115 rs5030812 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28119 P40337 (VHL) H Y 115 rs5030811 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28120 P40337 (VHL) L V 116 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28121 P40337 (VHL) W C 117 rs727504215 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28122 P40337 (VHL) L P 118 rs5030830 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28123 P40337 (VHL) L R 118 rs5030830 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28124 P40337 (VHL) F L 119 rs1553619948 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28125 P40337 (VHL) F S 119 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28126 P40337 (VHL) D G 121 rs5030832 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28127 P40337 (VHL) A I 122 - Disease: Pheochromocy toma (PCC) [MIM:171300]
28128 P40337 (VHL) D Y 126 rs104893831 Disease: Erythrocytos is, familial, 2 (ECYT2) [MIM:263400]
28129 P40337 (VHL) L F 128 rs1553619956 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28130 P40337 (VHL) V L 130 rs104893830 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28131 P40337 (VHL) N K 131 rs1064794272 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28132 P40337 (VHL) N T 131 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28133 P40337 (VHL) L F 135 rs119103278 Benign
28134 P40337 (VHL) F C 136 rs5030833 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28135 P40337 (VHL) F S 136 rs5030833 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28136 P40337 (VHL) F Y 136 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28137 P40337 (VHL) D E 143 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28138 P40337 (VHL) Q H 145 rs771727849 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28139 P40337 (VHL) I T 147 rs1060503555 Disease: Pheochromocy toma (PCC) [MIM:171300]
28140 P40337 (VHL) A T 149 rs587780077 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28141 P40337 (VHL) P L 154 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28142 P40337 (VHL) V G 155 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28143 P40337 (VHL) V M 155 rs869025659 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28144 P40337 (VHL) Y C 156 rs397516441 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28145 P40337 (VHL) Y D 156 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28146 P40337 (VHL) Y N 156 - Disease: Pheochromocy toma (PCC) [MIM:171300]
28147 P40337 (VHL) T I 157 rs869025660 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28148 P40337 (VHL) L P 158 rs121913346 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28149 P40337 (VHL) L V 158 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28150 P40337 (VHL) K E 159 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28151 P40337 (VHL) R G 161 rs5030818 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28152 P40337 (VHL) R P 161 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28153 P40337 (VHL) R Q 161 rs730882035 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28154 P40337 (VHL) C F 162 rs397516444 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28155 P40337 (VHL) C R 162 rs1553620313 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28156 P40337 (VHL) C W 162 rs869025662 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28157 P40337 (VHL) C Y 162 rs397516444 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28158 P40337 (VHL) L P 163 rs28940297 Disease: Renal cell carcinoma (RCC) [MIM:144700]
28159 P40337 (VHL) Q H 164 rs1352275281 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28160 P40337 (VHL) Q R 164 rs267607170 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28161 P40337 (VHL) V D 166 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28162 P40337 (VHL) V F 166 rs104893825 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28163 P40337 (VHL) R G 167 rs5030820 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28164 P40337 (VHL) R Q 167 rs5030821 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28165 P40337 (VHL) R W 167 rs5030820 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28166 P40337 (VHL) V D 170 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28167 P40337 (VHL) V F 170 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28168 P40337 (VHL) V G 170 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28169 P40337 (VHL) Y D 175 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28170 P40337 (VHL) R W 176 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28171 P40337 (VHL) L P 178 rs5030822 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28172 P40337 (VHL) L Q 178 rs5030822 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28173 P40337 (VHL) I V 180 rs377715747 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28174 P40337 (VHL) L P 184 rs1064793878 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28175 P40337 (VHL) L R 184 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28176 P40337 (VHL) E K 186 rs367545984 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28177 P40337 (VHL) L P 188 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28178 P40337 (VHL) L Q 188 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28179 P40337 (VHL) L V 188 rs5030824 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28180 P40337 (VHL) H D 191 rs28940301 Disease: Erythrocytos is, familial, 2 (ECYT2) [MIM:263400]
28181 P40337 (VHL) P S 192 rs28940300 Disease: Erythrocytos is, familial, 2 (ECYT2) [MIM:263400]
28182 P40337 (VHL) L Q 198 - Disease: Pheochromocy toma (PCC) [MIM:171300]
28183 P40337 (VHL) L R 198 - Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28184 P40337 (VHL) R W 200 rs28940298 Disease: Von Hippel- Lindau disease (VHLD) [MIM:193300]
28185 P40394 (ADH7) G A 92 rs1573496 Benign
28186 P40424 (PBX1) G S 31 rs2275558 Benign
28187 P40692 (MLH1) R C 18 rs367654552 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28188 P40692 (MLH1) A V 21 rs63750706 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28189 P40692 (MLH1) G A 22 rs41295280 Benign
28190 P40692 (MLH1) I F 25 rs63749838 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28191 P40692 (MLH1) P L 28 rs63750792 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28192 P40692 (MLH1) A C 31 rs63749994 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28193 P40692 (MLH1) I V 32 rs2020872 Benign
28194 P40692 (MLH1) M N 35 rs121912965 Disease: Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
28195 P40692 (MLH1) M R 35 rs63749906 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28196 P40692 (MLH1) E K 37 rs63751012 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28197 P40692 (MLH1) N H 38 rs63750580 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28198 P40692 (MLH1) N K 38 rs267607706 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28199 P40692 (MLH1) D H 41 rs267607713 Benign
28200 P40692 (MLH1) D G 41 rs63751094 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28201 P40692 (MLH1) S F 44 rs63751109 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28202 P40692 (MLH1) Q K 62 rs63751428 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28203 P40692 (MLH1) D E 63 rs587778955 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28204 P40692 (MLH1) N S 64 rs63750952 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28205 P40692 (MLH1) G E 67 rs63749939 Disease: Colorectal cancer (CRC) [MIM:114500]
28206 P40692 (MLH1) G R 67 rs63750206 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28207 P40692 (MLH1) G W 67 rs63750206 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28208 P40692 (MLH1) I N 68 rs63750281 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28209 P40692 (MLH1) R K 69 rs63751661 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28210 P40692 (MLH1) C R 77 rs63749859 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28211 P40692 (MLH1) C Y 77 rs63750437 Disease: Colorectal cancer (CRC) [MIM:114500]
28212 P40692 (MLH1) F V 80 rs63749990 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28213 P40692 (MLH1) K E 84 rs63750641 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28214 P40692 (MLH1) S G 93 rs41295282 Benign
28215 P40692 (MLH1) G S 98 rs267607725 Benign
28216 P40692 (MLH1) G S 101 rs267607726 Benign
28217 P40692 (MLH1) G D 101 rs267607727 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28218 P40692 (MLH1) I R 107 rs63750507 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28219 P40692 (MLH1) H P 109 rs587779004 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28220 P40692 (MLH1) A P 111 rs587779005 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28221 P40692 (MLH1) T K 116 rs63750465 Benign
28222 P40692 (MLH1) T R 116 rs63750465 Benign
28223 P40692 (MLH1) T M 117 rs63750781 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28224 P40692 (MLH1) T R 117 rs63750781 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28225 P40692 (MLH1) Y N 126 rs200076893 Benign
28226 P40692 (MLH1) A P 128 rs63750866 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28227 P40692 (MLH1) D H 132 rs28930073 Disease: Colorectal cancer (CRC) [MIM:114500]
28228 P40692 (MLH1) L R 155 rs63750891 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28229 P40692 (MLH1) R G 182 rs63750211 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28230 P40692 (MLH1) R K 182 rs587779021 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28231 P40692 (MLH1) V G 185 rs63750515 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28232 P40692 (MLH1) S P 193 rs63751021 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28233 P40692 (MLH1) V L 213 rs2308317 Benign
28234 P40692 (MLH1) V M 213 rs2308317 Benign
28235 P40692 (MLH1) N S 215 rs267607775 Benign
28236 P40692 (MLH1) I S 216 rs267607776 Benign
28237 P40692 (MLH1) R G 217 - Benign
28238 P40692 (MLH1) I V 219 rs1799977 Benign
28239 P40692 (MLH1) R L 226 rs63751711 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28240 P40692 (MLH1) G D 244 rs63750303 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28241 P40692 (MLH1) S P 247 rs63750948 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28242 P40692 (MLH1) L R 260 rs63751283 Disease: Colorectal cancer (CRC) [MIM:114500]
28243 P40692 (MLH1) H L 264 rs63751664 Benign
28244 P40692 (MLH1) H Y 264 rs63751597 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28245 P40692 (MLH1) R H 265 rs63751448 Benign
28246 P40692 (MLH1) R C 265 rs63751194 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28247 P40692 (MLH1) R S 265 rs63751194 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28248 P40692 (MLH1) E G 268 rs63750650 Disease: Colorectal cancer (CRC) [MIM:114500]
28249 P40692 (MLH1) A G 282 rs63750360 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28250 P40692 (MLH1) S T 295 rs63750144 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28251 P40692 (MLH1) D V 304 rs63750993 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28252 P40692 (MLH1) P S 309 rs267607808 Benign
28253 P40692 (MLH1) E D 320 rs267607811 Benign
28254 P40692 (MLH1) V A 326 rs63751049 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28255 P40692 (MLH1) H P 329 rs63750710 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28256 P40692 (MLH1) N S 338 rs63751467 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28257 P40692 (MLH1) Y C 379 rs143009528 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28258 P40692 (MLH1) V D 384 rs63750447 Benign
28259 P40692 (MLH1) P S 403 rs587778897 Benign
28260 P40692 (MLH1) S N 406 rs41294980 Benign
28261 P40692 (MLH1) R T 423 rs370687064 Benign
28262 P40692 (MLH1) A T 441 rs63750365 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28263 P40692 (MLH1) R W 474 rs147939838 Benign
28264 P40692 (MLH1) D E 485 rs63750956 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28265 P40692 (MLH1) A T 492 rs63751145 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28266 P40692 (MLH1) V A 506 rs63749909 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28267 P40692 (MLH1) A D 539 rs267607843 Benign
28268 P40692 (MLH1) Q L 542 rs63750511 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28269 P40692 (MLH1) Q P 542 rs63750511 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28270 P40692 (MLH1) L P 549 rs63750289 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28271 P40692 (MLH1) L P 550 rs63750193 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28272 P40692 (MLH1) N T 551 rs63750271 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28273 P40692 (MLH1) L R 559 rs63750059 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28274 P40692 (MLH1) I F 565 rs63750062 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28275 P40692 (MLH1) L P 574 rs63751608 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28276 P40692 (MLH1) L F 582 rs63751713 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28277 P40692 (MLH1) L V 582 rs63751713 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28278 P40692 (MLH1) L R 585 rs267607865 Benign
28279 P40692 (MLH1) A P 586 rs63751176 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28280 P40692 (MLH1) L P 588 rs63750575 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28281 P40692 (MLH1) A D 589 rs63750016 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28282 P40692 (MLH1) K R 618 rs63750449 Disease: Colorectal cancer (CRC) [MIM:114500]
28283 P40692 (MLH1) K T 618 rs63750449 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28284 P40692 (MLH1) A P 619 rs267607866 Benign
28285 P40692 (MLH1) L H 622 rs63750693 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28286 P40692 (MLH1) L P 636 rs63750825 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28287 P40692 (MLH1) P L 640 rs267607875 Benign
28288 P40692 (MLH1) P S 640 rs63749792 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28289 P40692 (MLH1) Y C 646 rs35045067 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28290 P40692 (MLH1) P S 648 rs63750899 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28291 P40692 (MLH1) P L 654 rs63750726 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28292 P40692 (MLH1) I V 655 rs55907433 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28293 P40692 (MLH1) F S 656 rs267607876 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28294 P40692 (MLH1) R L 659 rs63749900 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28295 P40692 (MLH1) R P 659 rs63749900 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28296 P40692 (MLH1) A T 681 rs63750217 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28297 P40692 (MLH1) V M 716 rs35831931 Benign
28298 P40692 (MLH1) L M 724 rs63749875 Disease: Hereditary non- polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]
28299 P40692 (MLH1) R H 725 rs566928243 Benign
28300 P40692 (MLH1) L V 729 rs1800149 Benign
28301 P40692 (MLH1) L P 749 rs267607894 Disease: Colorectal cancer (CRC) [MIM:114500]
28302 P40692 (MLH1) R W 755 rs267607900 Benign
28303 P40763 (STAT3) Q K 32 rs1803125 Benign
28304 P40763 (STAT3) M I 143 rs17878478 Benign
28305 P40763 (STAT3) P S 330 - Disease: Autoimmune disease, multisystem, infantile- onset, 1 (ADMIO1) [MIM:615952]
28306 P40763 (STAT3) R L 382 rs113994136 Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28307 P40763 (STAT3) R Q 382 rs113994136 Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28308 P40763 (STAT3) R W 382 rs113994135 Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28309 P40763 (STAT3) F L 384 - Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28310 P40763 (STAT3) F S 384 - Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28311 P40763 (STAT3) T I 389 rs397514766 Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28312 P40763 (STAT3) K R 392 rs587777648 Disease: Autoimmune disease, multisystem, infantile- onset, 1 (ADMIO1) [MIM:615952]
28313 P40763 (STAT3) R Q 423 rs113994137 Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28314 P40763 (STAT3) H Y 437 - Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28315 P40763 (STAT3) F Y 561 rs1064116 Benign
28316 P40763 (STAT3) S N 611 - Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28317 P40763 (STAT3) F V 621 - Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28318 P40763 (STAT3) T I 622 - Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28319 P40763 (STAT3) V L 637 - Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28320 P40763 (STAT3) V M 637 rs113994139 Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28321 P40763 (STAT3) N K 646 rs587777649 Disease: Autoimmune disease, multisystem, infantile- onset, 1 (ADMIO1) [MIM:615952]
28322 P40763 (STAT3) Y C 657 rs193922721 Disease: Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060]
28323 P40763 (STAT3) K N 658 rs587777650 Disease: Autoimmune disease, multisystem, infantile- onset, 1 (ADMIO1) [MIM:615952]
28324 P40763 (STAT3) T M 716 rs869312892 Disease: Autoimmune disease, multisystem, infantile- onset, 1 (ADMIO1) [MIM:615952]
28325 P40818 (USP8) D G 443 rs3743044 Benign
28326 P40818 (USP8) T A 739 rs11638390 Benign
28327 P40818 (USP8) A G 827 rs1056577 Benign
28328 P40879 (SLC26A3) R Q 68 rs10280704 Benign
28329 P40879 (SLC26A3) G S 120 rs386833479 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28330 P40879 (SLC26A3) H L 124 rs121913030 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28331 P40879 (SLC26A3) P L 129 rs386833480 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28332 P40879 (SLC26A3) P L 131 rs386833481 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28333 P40879 (SLC26A3) P R 131 rs386833481 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28334 P40879 (SLC26A3) S N 134 - Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28335 P40879 (SLC26A3) M I 136 rs386833483 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28336 P40879 (SLC26A3) R S 175 rs386833484 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28337 P40879 (SLC26A3) Y D 204 rs386833487 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28338 P40879 (SLC26A3) S P 206 rs386833488 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28339 P40879 (SLC26A3) H P 220 rs386833489 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28340 P40879 (SLC26A3) C W 307 rs34407351 Benign
28341 P40879 (SLC26A3) C Y 343 rs386833444 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28342 P40879 (SLC26A3) G A 379 rs386833446 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28343 P40879 (SLC26A3) S I 394 rs1228273365 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28344 P40879 (SLC26A3) S F 398 rs143839547 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28345 P40879 (SLC26A3) S P 438 rs763669046 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28346 P40879 (SLC26A3) D V 468 rs386833454 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28347 P40879 (SLC26A3) Q P 495 - Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28348 P40879 (SLC26A3) L R 496 rs386833457 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28349 P40879 (SLC26A3) C R 508 - Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28350 P40879 (SLC26A3) Y C 520 rs386833462 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28351 P40879 (SLC26A3) K N 521 rs386833463 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28352 P40879 (SLC26A3) I N 544 rs386833467 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28353 P40879 (SLC26A3) A E 547 - Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28354 P40879 (SLC26A3) R Q 554 rs2301635 Benign
28355 P40879 (SLC26A3) D N 652 rs140426439 Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28356 P40879 (SLC26A3) S P 654 - Disease: Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700]
28357 P40879 (SLC26A3) N S 753 rs35342296 Benign
28358 P40926 (MDH2) A V 9 rs6720 Benign
28359 P40926 (MDH2) G R 37 rs782308462 Disease: Epileptic encephalopat hy, early infantile, 51 (EIEE51) [MIM:617339]
28360 P40926 (MDH2) P L 133 rs375002796 Disease: Epileptic encephalopat hy, early infantile, 51 (EIEE51) [MIM:617339]
28361 P40926 (MDH2) P L 207 rs1057519566 Disease: Epileptic encephalopat hy, early infantile, 51 (EIEE51) [MIM:617339]
28362 P40937 (RFC5) A T 13 rs5745796 Benign
28363 P40938 (RFC3) L V 16 rs3135533 Benign
28364 P40939 (HADHA) V D 282 rs137852773 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
28365 P40939 (HADHA) I N 305 rs137852774 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
28366 P40939 (HADHA) L P 342 rs137852772 Disease: Long-chain 3-hydroxyl- CoA dehydrogenas e deficiency (LCHAD deficiency) [MIM:609016]
28367 P40939 (HADHA) Q K 358 rs2229420 Benign
28368 P40939 (HADHA) E Q 510 rs137852769 Disease: Maternal acute fatty liver of pregnancy (AFLP) [MIM:609016]
28369 P40967 (PMEL) P H 320 rs2071024 Benign
28370 P40967 (PMEL) E D 370 rs17118154 Benign
28371 P41091 (EIF2S3) K R 125 rs16997659 Benign
28372 P41091 (EIF2S3) I T 222 rs886040855 Disease: MEHMO syndrome (MEHMO) [MIM:300148]
28373 P41134 (ID1) N D 63 rs1802548 Benign
28374 P41143 (OPRD1) C F 27 rs1042114 Benign
28375 P41145 (OPRK1) D N 374 rs9282808 Benign
28376 P41159 (LEP) V M 94 rs17151919 Benign
28377 P41159 (LEP) D Y 100 rs724159998 Disease: Leptin deficiency (LEPD) [MIM:614962]
28378 P41159 (LEP) R W 105 rs104894023 Disease: Leptin deficiency (LEPD) [MIM:614962]
28379 P41159 (LEP) V M 110 rs1800564 Benign
28380 P41161 (ETV5) K R 348 rs2228269 Benign
28381 P41180 (CASR) L S 11 rs200673016 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28382 P41180 (CASR) L P 13 rs104893717 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28383 P41180 (CASR) T A 14 rs199515839 Benign
28384 P41180 (CASR) G R 21 rs1064794290 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28385 P41180 (CASR) P A 39 rs121909262 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28386 P41180 (CASR) F S 42 rs1553765909 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28387 P41180 (CASR) K N 47 rs104893702 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28388 P41180 (CASR) S P 53 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28389 P41180 (CASR) P L 55 rs886041154 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28390 P41180 (CASR) R M 62 rs121909265 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28391 P41180 (CASR) R C 66 rs121909266 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28392 P41180 (CASR) R H 66 rs1276839362 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28393 P41180 (CASR) I M 81 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28394 P41180 (CASR) T I 100 - Disease: Hyperparathy roidism, neonatal severe (NSHPT) [MIM:239200]
28395 P41180 (CASR) A T 110 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28396 P41180 (CASR) A T 116 rs104893691 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28397 P41180 (CASR) N K 118 rs104893695 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28398 P41180 (CASR) S C 122 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28399 P41180 (CASR) L F 125 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28400 P41180 (CASR) L P 125 rs104893708 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28401 P41180 (CASR) E A 127 rs121909260 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28402 P41180 (CASR) F L 128 rs104893696 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28403 P41180 (CASR) C R 129 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28404 P41180 (CASR) C W 131 rs121909267 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28405 P41180 (CASR) P L 136 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28406 P41180 (CASR) T M 138 rs121909263 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28407 P41180 (CASR) G E 143 rs121909264 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28408 P41180 (CASR) G R 143 rs769256610 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28409 P41180 (CASR) T M 151 rs104893694 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28410 P41180 (CASR) G R 158 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28411 P41180 (CASR) L P 159 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28412 P41180 (CASR) S G 166 rs193922441 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28413 P41180 (CASR) S N 171 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28414 P41180 (CASR) R G 172 rs201851934 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28415 P41180 (CASR) L R 174 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28416 P41180 (CASR) N D 178 rs1060502855 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28417 P41180 (CASR) F C 180 rs121909268 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28418 P41180 (CASR) R Q 185 rs104893689 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28419 P41180 (CASR) E K 191 rs104893697 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28420 P41180 (CASR) D G 215 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28421 P41180 (CASR) R W 220 rs1482119762 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28422 P41180 (CASR) P L 221 rs397514728 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28423 P41180 (CASR) P Q 221 rs397514728 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28424 P41180 (CASR) P S 221 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28425 P41180 (CASR) K T 225 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28426 P41180 (CASR) R L 227 rs28936684 Disease: Hyperparathy roidism, neonatal severe (NSHPT) [MIM:239200]
28427 P41180 (CASR) R Q 227 rs28936684 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28428 P41180 (CASR) E K 228 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28429 P41180 (CASR) E K 250 rs62269092 Benign
28430 P41180 (CASR) S F 271 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28431 P41180 (CASR) E K 297 rs121909259 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28432 P41180 (CASR) E A 354 - Disease: Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
28433 P41180 (CASR) G R 397 rs1064794291 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28434 P41180 (CASR) Q R 459 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28435 P41180 (CASR) R Q 465 rs104893716 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28436 P41180 (CASR) G R 509 rs193922423 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28437 P41180 (CASR) G R 549 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28438 P41180 (CASR) T I 550 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28439 P41180 (CASR) R K 551 rs1060502861 Disease: Hyperparathy roidism, neonatal severe (NSHPT) [MIM:239200]
28440 P41180 (CASR) G R 553 rs104893719 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28441 P41180 (CASR) I V 555 rs777646067 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28442 P41180 (CASR) G E 557 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28443 P41180 (CASR) C Y 562 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28444 P41180 (CASR) C G 565 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28445 P41180 (CASR) P H 569 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28446 P41180 (CASR) G W 571 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28447 P41180 (CASR) C F 582 rs104893690 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28448 P41180 (CASR) C Y 582 rs104893690 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28449 P41180 (CASR) E K 604 rs104893712 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28450 P41180 (CASR) F S 612 rs104893698 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28451 P41180 (CASR) L V 616 rs104893703 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28452 P41180 (CASR) G D 623 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28453 P41180 (CASR) L P 650 - Disease: Hyperparathy roidism, neonatal severe (NSHPT) [MIM:239200]
28454 P41180 (CASR) S Y 657 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28455 P41180 (CASR) C Y 661 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28456 P41180 (CASR) G E 670 rs104893700 Disease: Hyperparathy roidism, neonatal severe (NSHPT) [MIM:239200]
28457 P41180 (CASR) G R 670 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28458 P41180 (CASR) R H 680 rs773146939 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28459 P41180 (CASR) Q H 681 rs121909261 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28460 P41180 (CASR) Q R 681 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28461 P41180 (CASR) I V 686 rs753013993 Disease: Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
28462 P41180 (CASR) V M 689 - Disease: Hyperparathy roidism, neonatal severe (NSHPT) [MIM:239200]
28463 P41180 (CASR) V M 697 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28464 P41180 (CASR) E V 707 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28465 P41180 (CASR) L Q 727 rs104893718 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28466 P41180 (CASR) V F 728 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28467 P41180 (CASR) W R 742 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28468 P41180 (CASR) P R 748 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28469 P41180 (CASR) E K 767 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28470 P41180 (CASR) L R 773 rs104893699 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28471 P41180 (CASR) G S 774 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28472 P41180 (CASR) F C 788 rs104893701 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28473 P41180 (CASR) F L 788 rs886041537 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28474 P41180 (CASR) R W 795 rs121909258 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28475 P41180 (CASR) N I 802 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28476 P41180 (CASR) N S 802 rs140022350 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28477 P41180 (CASR) F S 806 rs104893693 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28478 P41180 (CASR) V I 817 rs1057518933 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28479 P41180 (CASR) S F 820 rs104893710 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28480 P41180 (CASR) G S 830 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28481 P41180 (CASR) F L 832 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28482 P41180 (CASR) F S 832 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28483 P41180 (CASR) I T 839 - Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28484 P41180 (CASR) A E 843 rs104893706 Disease: Hypocalcemia , autosomal dominant 1 (HYPOC1) [MIM:601198]
28485 P41180 (CASR) C S 851 rs200777304 Benign
28486 P41180 (CASR) F L 881 rs104893704 Disease: -
28487 P41180 (CASR) R W 886 - Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28488 P41180 (CASR) R Q 898 rs121909269 Disease: Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
28489 P41180 (CASR) P T 951 rs4987051 Benign
28490 P41180 (CASR) T M 972 rs200620134 Disease: Hypocalciuri c hypercalcemi a, familial 1 (HHC1) [MIM:145980]
28491 P41180 (CASR) A S 986 rs1801725 Benign
28492 P41180 (CASR) A G 988 - Disease: Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
28493 P41180 (CASR) A V 988 rs759027000 Disease: Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
28494 P41180 (CASR) R G 990 rs1042636 Benign
28495 P41180 (CASR) E Q 1011 rs1801726 Benign
28496 P41181 (AQP2) L V 22 rs104894336 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28497 P41181 (AQP2) L P 28 - Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28498 P41181 (AQP2) A V 47 rs995684800 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28499 P41181 (AQP2) Q P 57 rs28931580 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28500 P41181 (AQP2) G R 64 rs104894326 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28501 P41181 (AQP2) N S 68 rs104894331 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28502 P41181 (AQP2) A D 70 - Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28503 P41181 (AQP2) V M 71 rs149659001 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28504 P41181 (AQP2) G R 100 rs1303076207 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28505 P41181 (AQP2) G V 100 rs104894338 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28506 P41181 (AQP2) T M 108 rs1468828294 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28507 P41181 (AQP2) L F 121 rs11169226 Benign
28508 P41181 (AQP2) T M 125 rs104894333 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28509 P41181 (AQP2) T M 126 rs104894330 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28510 P41181 (AQP2) A T 147 rs104894334 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28511 P41181 (AQP2) V M 168 rs755694590 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28512 P41181 (AQP2) G R 175 rs104894335 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28513 P41181 (AQP2) G S 180 rs147039983 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28514 P41181 (AQP2) C W 181 rs104894337 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28515 P41181 (AQP2) P A 185 rs761713751 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28516 P41181 (AQP2) R C 187 rs104894328 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28517 P41181 (AQP2) R H 187 rs193922495 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28518 P41181 (AQP2) A T 190 rs104894341 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28519 P41181 (AQP2) V I 194 rs772051028 Benign
28520 P41181 (AQP2) W C 202 - Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28521 P41181 (AQP2) S P 216 rs104894329 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28522 P41181 (AQP2) R L 254 - Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28523 P41181 (AQP2) R Q 254 - Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28524 P41181 (AQP2) E K 258 rs104894332 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28525 P41181 (AQP2) P L 262 rs104894339 Disease: Diabetes insipidus, nephrogenic, autosomal (ANDI) [MIM:125800]
28526 P41182 (BCL6) N S 252 rs34463990 Benign
28527 P41182 (BCL6) A T 493 rs2229362 Benign
28528 P41182 (BCL6) H Y 676 rs1056936 Benign
28529 P41212 (ETV6) P L 214 rs724159947 Disease: Thrombocytop enia 5 (THC5) [MIM:616216]
28530 P41212 (ETV6) R Q 369 rs724159946 Disease: Thrombocytop enia 5 (THC5) [MIM:616216]
28531 P41212 (ETV6) R C 399 rs724159945 Disease: Thrombocytop enia 5 (THC5) [MIM:616216]
28532 P41214 (EIF2D) T I 210 rs35252702 Benign
28533 P41217 (CD200) S C 11 rs1131199 Benign
28534 P41217 (CD200) P T 46 rs2272022 Benign
28535 P41217 (CD200) V G 76 rs35465733 Benign
28536 P41218 (MNDA) S R 156 rs35417083 Benign
28537 P41218 (MNDA) V L 286 rs1056771 Benign
28538 P41218 (MNDA) H Y 357 rs2276403 Benign
28539 P41220 (RGS2) Q L 2 rs141030117 Benign
28540 P41220 (RGS2) Q R 2 rs141030117 Benign
28541 P41220 (RGS2) S G 3 rs145125159 Benign
28542 P41220 (RGS2) A V 4 rs142499684 Benign
28543 P41220 (RGS2) M V 5 rs193051407 Benign
28544 P41220 (RGS2) K N 18 rs74466425 Benign
28545 P41220 (RGS2) G D 23 rs148489044 Benign
28546 P41220 (RGS2) D Y 40 rs201233692 Benign
28547 P41220 (RGS2) R H 44 rs200339834 Benign
28548 P41220 (RGS2) Q K 50 rs80221024 Benign
28549 P41220 (RGS2) P L 55 rs140811638 Benign
28550 P41220 (RGS2) Q H 78 - Benign
28551 P41220 (RGS2) A G 99 rs139237239 Benign
28552 P41220 (RGS2) I V 110 rs146862218 Benign
28553 P41220 (RGS2) R H 188 rs369752935 Benign
28554 P41220 (RGS2) Q R 196 rs112707798 Benign
28555 P41221 (WNT5A) C S 83 rs786200925 Disease: Robinow syndrome, autosomal dominant 1 (DRS1) [MIM:180700]
28556 P41221 (WNT5A) C R 182 rs387906663 Disease: Robinow syndrome, autosomal dominant 1 (DRS1) [MIM:180700]
28557 P41222 (PTGDS) R Q 56 rs11552179 Benign
28558 P41225 (SOX3) A T 43 rs73637709 Benign
28559 P41226 (UBA7) P S 712 rs11928913 Benign
28560 P41226 (UBA7) H R 817 rs2230149 Benign
28561 P41227 (NAA10) S P 37 rs387906701 Disease: N-terminal acetyltransf erase deficiency (NATD) [MIM:300855]
28562 P41227 (NAA10) Y S 43 rs863225427 Disease: N-terminal acetyltransf erase deficiency (NATD) [MIM:300855]
28563 P41227 (NAA10) R H 83 - Disease: N-terminal acetyltransf erase deficiency (NATD) [MIM:300855]
28564 P41229 (KDM5C) D G 87 - Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28565 P41229 (KDM5C) A P 388 rs199422235 Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28566 P41229 (KDM5C) D Y 402 - Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28567 P41229 (KDM5C) S R 451 rs199422237 Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28568 P41229 (KDM5C) P L 480 rs1057518697 Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28569 P41229 (KDM5C) F L 642 - Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28570 P41229 (KDM5C) E K 698 rs1057517955 Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28571 P41229 (KDM5C) L F 731 rs199422234 Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28572 P41229 (KDM5C) R W 750 - Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28573 P41229 (KDM5C) Y C 751 - Disease: Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
28574 P41231 (P2RY2) P L 46 rs2511241 Benign
28575 P41231 (P2RY2) R S 312 rs3741156 Benign
28576 P41231 (P2RY2) R C 334 rs1626154 Benign
28577 P41235 (HNF4A) R W 85 rs587777732 Disease: Fanconi renotubular syndrome 4 with maturity- onset diabetes of the young (FRTS4) [MIM:616026]
28578 P41235 (HNF4A) R W 136 rs137853336 Disease: Maturity- onset diabetes of the young 1 (MODY1) [MIM:125850]
28579 P41235 (HNF4A) T I 139 rs1800961 Benign
28580 P41235 (HNF4A) V M 264 rs139779712 Benign
28581 P41235 (HNF4A) E Q 285 - Disease: Maturity- onset diabetes of the young 1 (MODY1) [MIM:125850]
28582 P41235 (HNF4A) M R 373 rs137853338 Disease: Maturity- onset diabetes of the young 1 (MODY1) [MIM:125850]
28583 P41235 (HNF4A) V I 402 rs137853337 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
28584 P41235 (HNF4A) P S 445 rs1063239 Benign
28585 P41235 (HNF4A) V I 453 rs776824742 Benign
28586 P41238 (APOBEC1) M I 80 rs2302515 Benign
28587 P41238 (APOBEC1) R K 236 rs12820011 Benign
28588 P41240 (CSK) P L 45 - Benign
28589 P41240 (CSK) G D 287 rs34866753 Benign
28590 P41240 (CSK) R Q 398 rs34616395 Benign
28591 P41240 (CSK) H R 442 rs35556162 Benign
28592 P41247 (PNPLA4) V G 48 rs17856615 Benign
28593 P41247 (PNPLA4) V I 113 rs2231791 Benign
28594 P41247 (PNPLA4) D G 134 rs17851825 Benign
28595 P41247 (PNPLA4) R Q 187 rs2231793 Benign
28596 P41250 (GARS1) P A 42 rs1049402 Benign
28597 P41250 (GARS1) A V 111 rs370531212 Disease: Charcot- Marie-Tooth disease 2D (CMT2D) [MIM:601472]
28598 P41250 (GARS1) E G 125 rs137852645 Disease: Charcot- Marie-Tooth disease 2D (CMT2D) [MIM:601472]
28599 P41250 (GARS1) L P 183 rs137852644 Disease: Neuronopathy , distal hereditary motor, 5A (HMN5A) [MIM:600794]
28600 P41250 (GARS1) D N 200 - Disease: Neuronopathy , distal hereditary motor, 5A (HMN5A) [MIM:600794]
28601 P41250 (GARS1) D Y 200 - Disease: Charcot- Marie-Tooth disease 2D (CMT2D) [MIM:601472]
28602 P41250 (GARS1) S F 265 rs1554337974 Disease: Neuronopathy , distal hereditary motor, 5A (HMN5A) [MIM:600794]
28603 P41250 (GARS1) M R 292 - Disease: Charcot- Marie-Tooth disease 2D (CMT2D) [MIM:601472]
28604 P41250 (GARS1) G R 294 rs137852643 Disease: Charcot- Marie-Tooth disease 2D (CMT2D) [MIM:601472]
28605 P41250 (GARS1) P L 298 rs137852648 Disease: Charcot- Marie-Tooth disease 2D (CMT2D) [MIM:601472]
28606 P41250 (GARS1) R Q 310 rs1135401748 Disease: -
28607 P41250 (GARS1) R Q 388 rs17159287 Benign
28608 P41250 (GARS1) H R 472 rs1060502838 Disease: Neuronopathy , distal hereditary motor, 5A (HMN5A) [MIM:600794]
28609 P41250 (GARS1) D N 554 rs137852647 Disease: Charcot- Marie-Tooth disease 2D (CMT2D) [MIM:601472]
28610 P41250 (GARS1) G R 580 rs137852646 Disease: Neuronopathy , distal hereditary motor, 5A (HMN5A) [MIM:600794]
28611 P41250 (GARS1) S L 635 rs201358272 Benign
28612 P41250 (GARS1) G A 652 - Disease: Charcot- Marie-Tooth disease 2D (CMT2D) [MIM:601472]
28613 P41252 (IARS1) N Y 302 rs140666586 Benign
28614 P41252 (IARS1) V G 370 rs886037876 Disease: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]
28615 P41252 (IARS1) P L 437 rs886037874 Disease: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]
28616 P41252 (IARS1) T M 684 rs2070053 Benign
28617 P41252 (IARS1) M I 769 - Benign
28618 P41252 (IARS1) N D 992 rs886037877 Disease: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]
28619 P41252 (IARS1) I N 1174 rs886037873 Disease: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]
28620 P41252 (IARS1) K E 1182 rs556155 Benign
28621 P41252 (IARS1) M T 1188 rs201071417 Benign
28622 P41273 (TNFSF9) P A 17 rs442511 Benign
28623 P41279 (MAP3K8) S F 214 rs3087944 Benign
28624 P41440 (SLC19A1) H R 27 rs1051266 Benign
28625 P41440 (SLC19A1) A V 558 rs35786590 Benign
28626 P41567 (EIF1) L P 59 rs3390 Benign
28627 P41567 (EIF1) R G 90 rs3387 Benign
28628 P41587 (VIPR2) A T 39 rs1062609 Benign
28629 P41587 (VIPR2) R H 412 rs1042620 Benign
28630 P41595 (HTR2B) Q E 45 rs78484969 Benign
28631 P41595 (HTR2B) F L 173 rs77570025 Benign
28632 P41595 (HTR2B) R W 388 rs77982984 Benign
28633 P41595 (HTR2B) M V 421 rs6736017 Benign
28634 P41597 (CCR2) L V 45 rs4987052 Benign
28635 P41597 (CCR2) V I 64 rs1799864 Benign
28636 P41597 (CCR2) G E 355 rs3918387 Benign
28637 P41732 (TSPAN7) E K 53 rs17851592 Benign
28638 P41732 (TSPAN7) A T 127 rs17851593 Benign
28639 P41732 (TSPAN7) P H 172 rs104894951 Disease: Mental retardation, X-linked 58 (MRX58) [MIM:300210]
28640 P41743 (PRKCI) R C 130 rs56154494 Benign
28641 P41968 (MC3R) V I 44 rs3827103 Benign
28642 P41968 (MC3R) I N 146 rs74315393 Benign
28643 P41968 (MC3R) I S 298 rs121913556 Benign
28644 P41970 (ELK3) P L 169 rs35332676 Benign
28645 P42025 (ACTR1B) V A 93 rs11547231 Benign
28646 P42025 (ACTR1B) A V 143 rs11692435 Benign
28647 P42081 (CD86) S N 170 rs9282642 Benign
28648 P42081 (CD86) V I 185 rs2681417 Benign
28649 P42081 (CD86) A T 310 rs1129055 Benign
28650 P42081 (CD86) D N 323 rs9282648 Benign
28651 P42127 (ASIP) V A 13 rs2296151 Benign
28652 P42127 (ASIP) Q P 61 rs1129414 Benign
28653 P42166 (TMPO) L R 238 rs35998138 Benign
28654 P42166 (TMPO) S A 293 rs35645287 Benign
28655 P42166 (TMPO) T S 317 rs35969221 Benign
28656 P42166 (TMPO) K E 416 rs11838270 Benign
28657 P42166 (TMPO) K N 478 rs35761089 Benign
28658 P42166 (TMPO) Q E 599 rs17459334 Benign
28659 P42166 (TMPO) R C 690 rs17028450 Benign
28660 P42167 (TMPO) A P 287 rs7133258 Benign
28661 P42167 (TMPO) L F 427 rs1058288 Benign
28662 P42224 (STAT1) I T 30 rs34255470 Benign
28663 P42224 (STAT1) D G 165 rs387906764 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28664 P42224 (STAT1) D H 165 rs387906767 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28665 P42224 (STAT1) Y N 170 rs387906766 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28666 P42224 (STAT1) C R 174 rs387906763 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28667 P42224 (STAT1) N K 179 rs587777628 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28668 P42224 (STAT1) K N 201 rs587776870 Disease: Immunodefici ency 31B (IMD31B) [MIM:613796]
28669 P42224 (STAT1) M I 202 - Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28670 P42224 (STAT1) M V 202 rs387906762 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28671 P42224 (STAT1) A V 267 rs387906759 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28672 P42224 (STAT1) Q P 271 rs387906768 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28673 P42224 (STAT1) R Q 274 rs387906760 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28674 P42224 (STAT1) R W 274 rs387906758 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28675 P42224 (STAT1) K E 278 rs863223398 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28676 P42224 (STAT1) Q R 285 rs587777629 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28677 P42224 (STAT1) K I 286 rs387906761 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28678 P42224 (STAT1) T A 288 rs387906765 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28679 P42224 (STAT1) K N 298 - Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28680 P42224 (STAT1) E Q 320 rs137852680 Disease: Immunodefici ency 31A (IMD31A) [MIM:614892]
28681 P42224 (STAT1) G D 384 rs796065052 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28682 P42224 (STAT1) T M 385 rs587777630 Disease: Immunodefici ency 31C (IMD31C) [MIM:614162]
28683 P42224 (STAT1) Q H 463 rs137852679 Disease: Immunodefici ency 31A (IMD31A) [MIM:614892]
28684 P42224 (STAT1) L P 600 rs137852678 Disease: Immunodefici ency 31B (IMD31B) [MIM:613796]
28685 P42224 (STAT1) K E 637 rs587777705 Disease: Immunodefici ency 31A (IMD31A) [MIM:614892]
28686 P42224 (STAT1) K R 673 rs587777704 Disease: Immunodefici ency 31A (IMD31A) [MIM:614892]
28687 P42224 (STAT1) Y C 701 - Disease: Immunodefici ency 31B (IMD31B) [MIM:613796]
28688 P42224 (STAT1) L S 706 rs137852677 Disease: Immunodefici ency 31A (IMD31A) [MIM:614892]
28689 P42226 (STAT6) M R 181 rs3024952 Benign
28690 P42226 (STAT6) D N 419 rs11172102 Benign
28691 P42229 (STAT5A) R H 389 rs2230134 Benign
28692 P42261 (GRIA1) D N 487 rs13166146 Benign
28693 P42261 (GRIA1) P T 521 rs13166161 Benign
28694 P42261 (GRIA1) A S 536 rs13166438 Benign
28695 P42261 (GRIA1) I M 548 rs13186241 Benign
28696 P42261 (GRIA1) F L 588 rs13186534 Benign
28697 P42262 (GRIA2) Q R 607 rs17850674 Benign
28698 P42262 (GRIA2) Q R 608 rs17850675 Benign
28699 P42263 (GRIA3) R Q 450 rs368568228 Disease: Mental retardation, X-linked 94 (MRX94) [MIM:300699]
28700 P42263 (GRIA3) F L 525 rs1052538 Benign
28701 P42263 (GRIA3) R S 631 rs137852351 Disease: Mental retardation, X-linked 94 (MRX94) [MIM:300699]
28702 P42263 (GRIA3) M T 706 rs137852352 Disease: Mental retardation, X-linked 94 (MRX94) [MIM:300699]
28703 P42263 (GRIA3) G R 833 rs137852350 Disease: Mental retardation, X-linked 94 (MRX94) [MIM:300699]
28704 P42285 (MTREX) A P 346 rs35643285 Benign
28705 P42330 (AKR1C3) H Q 5 rs12529 Benign
28706 P42330 (AKR1C3) R Q 66 rs35961894 Benign
28707 P42330 (AKR1C3) E G 77 rs11551177 Benign
28708 P42330 (AKR1C3) R C 170 rs35575889 Benign
28709 P42330 (AKR1C3) M I 175 rs1131132 Benign
28710 P42330 (AKR1C3) P S 180 rs34186955 Benign
28711 P42331 (ARHGAP25) R W 192 rs3749130 Benign
28712 P42331 (ARHGAP25) R S 555 rs4241344 Benign
28713 P42331 (ARHGAP25) M T 556 rs10177248 Benign
28714 P42336 (PIK3CA) R H 38 rs772110575 Disease: Colorectal cancer (CRC) [MIM:114500]
28715 P42336 (PIK3CA) I V 43 rs1051399 Benign
28716 P42336 (PIK3CA) E K 81 rs1057519929 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28717 P42336 (PIK3CA) R Q 88 rs121913287 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28718 P42336 (PIK3CA) G V 106 rs1057519930 Disease: Colorectal cancer (CRC) [MIM:114500]
28719 P42336 (PIK3CA) I N 112 rs863225460 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28720 P42336 (PIK3CA) G D 118 rs587777790 Disease: Cowden syndrome 5 (CWS5) [MIM:615108]
28721 P42336 (PIK3CA) E K 135 rs587777791 Disease: Cowden syndrome 5 (CWS5) [MIM:615108]
28722 P42336 (PIK3CA) E K 218 rs587777792 Disease: Cowden syndrome 5 (CWS5) [MIM:615108]
28723 P42336 (PIK3CA) S R 332 rs1051407 Benign
28724 P42336 (PIK3CA) V I 356 rs587777793 Disease: Cowden syndrome 5 (CWS5) [MIM:615108]
28725 P42336 (PIK3CA) G R 364 - Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28726 P42336 (PIK3CA) E K 365 rs1064793732 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28727 P42336 (PIK3CA) C Y 378 rs397514565 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28728 P42336 (PIK3CA) R K 382 rs587777794 Disease: Cowden syndrome 5 (CWS5) [MIM:615108]
28729 P42336 (PIK3CA) I M 391 rs2230461 Benign
28730 P42336 (PIK3CA) E Q 453 rs1057519925 Disease: Colorectal cancer (CRC) [MIM:114500]
28731 P42336 (PIK3CA) E A 545 rs121913274 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
28732 P42336 (PIK3CA) E G 545 rs121913274 Disease: Keratosis, seborrheic (KERSEB) [MIM:182000]
28733 P42336 (PIK3CA) E K 545 rs104886003 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28734 P42336 (PIK3CA) E K 726 rs867262025 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28735 P42336 (PIK3CA) G R 914 rs587776932 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28736 P42336 (PIK3CA) Y C 1021 rs121913288 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28737 P42336 (PIK3CA) T A 1025 rs397517202 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28738 P42336 (PIK3CA) A V 1035 rs1242945375 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28739 P42336 (PIK3CA) M I 1043 rs121913283 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28740 P42336 (PIK3CA) H Y 1047 rs121913281 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28741 P42336 (PIK3CA) G S 1049 rs121913277 Disease: Megalencepha ly-capillary malformation -polymicrogy ria syndrome (MCAP) [MIM:602501]
28742 P42338 (PIK3CB) Q H 672 rs2230462 Benign
28743 P42345 (MTOR) M V 1083 rs56164650 Benign
28744 P42345 (MTOR) A V 1134 rs28730685 Benign
28745 P42345 (MTOR) S F 1178 rs55975118 Benign
28746 P42345 (MTOR) Y D 1450 - Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28747 P42345 (MTOR) W G 1456 rs1085307114 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28748 P42345 (MTOR) A D 1459 - Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28749 P42345 (MTOR) A S 1459 - Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28750 P42345 (MTOR) L P 1460 rs1057519779 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28751 P42345 (MTOR) C R 1483 rs1057519914 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28752 P42345 (MTOR) W R 1490 - Disease: Smith- Kingsmore syndrome (SKS) [MIM:616638]
28753 P42345 (MTOR) M I 1595 rs869312671 Disease: Smith- Kingsmore syndrome (SKS) [MIM:616638]
28754 P42345 (MTOR) E K 1799 rs863225264 Disease: Smith- Kingsmore syndrome (SKS) [MIM:616638]
28755 P42345 (MTOR) A T 1832 rs369088781 Disease: Smith- Kingsmore syndrome (SKS) [MIM:616638]
28756 P42345 (MTOR) F C 1888 rs869312666 Disease: Smith- Kingsmore syndrome (SKS) [MIM:616638]
28757 P42345 (MTOR) T K 1977 rs587777893 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28758 P42345 (MTOR) R C 2193 - Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28759 P42345 (MTOR) S F 2215 rs587777894 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28760 P42345 (MTOR) S Y 2215 rs587777894 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28761 P42345 (MTOR) M I 2327 rs878855328 Disease: Smith- Kingsmore syndrome (SKS) [MIM:616638]
28762 P42345 (MTOR) L P 2427 rs1085307113 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28763 P42345 (MTOR) L Q 2427 rs1085307113 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
28764 P42356 (PI4KA) M V 380 rs17819211 Benign
28765 P42356 (PI4KA) V L 1851 rs2539908 Benign
28766 P42356 (PI4KA) D N 1854 rs747119727 Disease: Polymicrogyr ia, perisylvian, with cerebellar hypoplasia and arthrogrypos is (PMGYCHA) [MIM:616531]
28767 P42357 (HAL) R T 206 rs121434327 Disease: Histidinemia (HISTID) [MIM:235800]
28768 P42357 (HAL) R L 208 rs121434328 Disease: Histidinemia (HISTID) [MIM:235800]
28769 P42357 (HAL) P L 259 rs121434329 Disease: Histidinemia (HISTID) [MIM:235800]
28770 P42357 (HAL) R P 322 rs121434330 Disease: Histidinemia (HISTID) [MIM:235800]
28771 P42357 (HAL) V I 439 rs7297245 Benign
28772 P42566 (EPS15) I M 822 rs17567 Benign
28773 P42574 (CASP3) H R 22 rs35578277 Benign
28774 P42574 (CASP3) E D 190 rs1049210 Benign
28775 P42575 (CASP2) A G 105 rs4647298 Benign
28776 P42575 (CASP2) V L 172 rs4647297 Benign
28777 P42575 (CASP2) P A 178 rs4647298 Benign
28778 P42575 (CASP2) R G 441 rs4647338 Benign
28779 P42658 (DPP6) M L 385 rs786205143 Disease: Mental retardation, autosomal dominant 33 (MRD33) [MIM:616311]
28780 P42658 (DPP6) L P 854 rs3734960 Benign
28781 P42679 (MATK) A T 496 rs35351680 Benign
28782 P42680 (TEC) R Q 44 rs35374286 Benign
28783 P42681 (TXK) R H 45 rs7658300 Benign
28784 P42681 (TXK) R C 63 rs41265727 Benign
28785 P42681 (TXK) R Q 336 rs11724347 Benign
28786 P42684 (ABL2) R H 78 rs55655202 Benign
28787 P42684 (ABL2) T S 769 rs55892721 Benign
28788 P42684 (ABL2) K R 930 rs17277288 Benign
28789 P42684 (ABL2) V M 946 rs28913889 Benign
28790 P42684 (ABL2) P R 996 rs28913890 Benign
28791 P42684 (ABL2) S N 1085 rs28913891 Benign
28792 P42684 (ABL2) T A 1101 rs28913892 Benign
28793 P42685 (FRK) I V 100 rs34704018 Benign
28794 P42685 (FRK) G R 122 rs3756772 Benign
28795 P42685 (FRK) S L 133 rs34064900 Benign
28796 P42694 (HELZ) C R 48 rs2302669 Benign
28797 P42694 (HELZ) V M 74 rs8080100 Benign
28798 P42694 (HELZ) A V 1530 rs11653020 Benign
28799 P42695 (NCAPD3) R Q 622 rs12292394 Benign
28800 P42695 (NCAPD3) P T 907 rs34739733 Benign
28801 P42695 (NCAPD3) S R 1034 rs7927108 Benign
28802 P42695 (NCAPD3) E A 1153 rs1350194762 Disease: Microcephaly 22, primary, autosomal recessive (MCPH22) [MIM:617984]
28803 P42701 (IL12RB1) P Q 3 rs17884651 Benign
28804 P42701 (IL12RB1) P S 47 rs17887176 Benign
28805 P42701 (IL12RB1) R H 156 rs11575926 Benign
28806 P42701 (IL12RB1) R W 213 rs121434494 Disease: Immunodefici ency 30 (IMD30) [MIM:614891]
28807 P42701 (IL12RB1) Q R 214 rs11575934 Benign
28808 P42701 (IL12RB1) H Q 339 rs17884957 Benign
28809 P42701 (IL12RB1) M T 365 rs375947 Benign
28810 P42701 (IL12RB1) G R 378 rs401502 Benign
28811 P42702 (LIFR) H Y 116 rs3729734 Benign
28812 P42702 (LIFR) S P 279 - Disease: Stueve- Wiedemann syndrome (STWS) [MIM:601559]
28813 P42702 (LIFR) D N 578 rs3729740 Benign
28814 P42702 (LIFR) I M 633 rs2303743 Benign
28815 P42702 (LIFR) S L 664 rs3729744 Benign
28816 P42702 (LIFR) V I 785 rs3110234 Benign
28817 P42704 (LRPPRC) A V 354 rs119466000 Disease: Leigh syndrome French- Canadian type (LSFC) [MIM:220111]
28818 P42704 (LRPPRC) T A 478 rs35035668 Benign
28819 P42765 (ACAA2) M V 217 rs11549285 Benign
28820 P42768 (WAS) L F 27 - Disease: Thrombocytop enia 1 (THC1) [MIM:313900]
28821 P42768 (WAS) E K 31 rs1557006239 Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28822 P42768 (WAS) C W 43 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28823 P42768 (WAS) T M 45 rs132630273 Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28824 P42768 (WAS) T I 48 - Disease: Thrombocytop enia 1 (THC1) [MIM:313900]
28825 P42768 (WAS) Q H 52 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28826 P42768 (WAS) A V 56 rs132630269 Disease: Thrombocytop enia 1 (THC1) [MIM:313900]
28827 P42768 (WAS) P L 58 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28828 P42768 (WAS) P R 58 rs132630275 Disease: Thrombocytop enia 1 (THC1) [MIM:313900]
28829 P42768 (WAS) G W 70 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28830 P42768 (WAS) C R 73 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28831 P42768 (WAS) V M 75 rs782290433 Disease: Thrombocytop enia 1 (THC1) [MIM:313900]
28832 P42768 (WAS) S P 82 rs132630272 Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28833 P42768 (WAS) Y C 83 - Disease: Thrombocytop enia 1 (THC1) [MIM:313900]
28834 P42768 (WAS) F L 84 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28835 P42768 (WAS) R C 86 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28836 P42768 (WAS) R H 86 rs132630268 Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28837 P42768 (WAS) R L 86 rs132630268 Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28838 P42768 (WAS) G D 89 rs139857045 Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28839 P42768 (WAS) W C 97 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28840 P42768 (WAS) E K 131 rs146220228 Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28841 P42768 (WAS) E K 133 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28842 P42768 (WAS) A T 134 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28843 P42768 (WAS) G C 187 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28844 P42768 (WAS) A E 236 - Disease: Thrombocytop enia 1 (THC1) [MIM:313900]
28845 P42768 (WAS) L P 270 rs132630274 Disease: Neutropenia, severe congenital, X-linked (XLN) [MIM:300299]
28846 P42768 (WAS) K E 476 - Disease: Wiskott- Aldrich syndrome (WAS) [MIM:301000]
28847 P42768 (WAS) R K 477 - Disease: Thrombocytop enia 1 (THC1) [MIM:313900]
28848 P42768 (WAS) I N 481 rs132630276 Disease: Thrombocytop enia 1 (THC1) [MIM:313900]
28849 P42771 (CDKN2A) R Q 24 rs104894097 Benign
28850 P42771 (CDKN2A) R C 24 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28851 P42771 (CDKN2A) R P 24 rs104894097 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28852 P42771 (CDKN2A) L P 32 rs878853650 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28853 P42771 (CDKN2A) G A 35 rs746834149 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28854 P42771 (CDKN2A) G E 35 rs746834149 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28855 P42771 (CDKN2A) G V 35 rs746834149 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28856 P42771 (CDKN2A) P L 48 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28857 P42771 (CDKN2A) I T 49 rs199907548 Benign
28858 P42771 (CDKN2A) Q R 50 rs587778189 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28859 P42771 (CDKN2A) M I 53 rs104894095 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28860 P42771 (CDKN2A) S I 56 rs104894109 Benign
28861 P42771 (CDKN2A) V G 59 rs104894099 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28862 P42771 (CDKN2A) A T 60 rs769382085 Benign
28863 P42771 (CDKN2A) L P 62 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28864 P42771 (CDKN2A) G R 67 rs758389471 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28865 P42771 (CDKN2A) A V 68 rs1060501260 Benign
28866 P42771 (CDKN2A) A L 68 rs876658534 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28867 P42771 (CDKN2A) E G 69 rs372670098 Benign
28868 P42771 (CDKN2A) N S 71 rs559848002 Benign
28869 P42771 (CDKN2A) N K 71 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28870 P42771 (CDKN2A) D Y 74 rs760640852 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28871 P42771 (CDKN2A) T P 77 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28872 P42771 (CDKN2A) R P 80 rs1057519883 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28873 P42771 (CDKN2A) P T 81 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28874 P42771 (CDKN2A) H Q 83 rs34968276 Benign
28875 P42771 (CDKN2A) D Y 84 rs11552822 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28876 P42771 (CDKN2A) A T 85 rs878853646 Benign
28877 P42771 (CDKN2A) R P 87 rs878853647 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28878 P42771 (CDKN2A) R W 87 rs749714198 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28879 P42771 (CDKN2A) G D 89 rs137854599 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28880 P42771 (CDKN2A) G S 89 rs137854597 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28881 P42771 (CDKN2A) L Q 94 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28882 P42771 (CDKN2A) L R 97 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28883 P42771 (CDKN2A) H P 98 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28884 P42771 (CDKN2A) H Q 98 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28885 P42771 (CDKN2A) R W 99 rs34886500 Benign
28886 P42771 (CDKN2A) R P 99 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28887 P42771 (CDKN2A) A P 100 - Benign
28888 P42771 (CDKN2A) A L 100 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28889 P42771 (CDKN2A) G W 101 rs104894094 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28890 P42771 (CDKN2A) A E 102 rs137854598 Benign
28891 P42771 (CDKN2A) A T 102 rs35741010 Benign
28892 P42771 (CDKN2A) R H 107 rs370823171 Benign
28893 P42771 (CDKN2A) R C 107 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28894 P42771 (CDKN2A) P S 114 rs104894104 Benign
28895 P42771 (CDKN2A) L M 117 - Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28896 P42771 (CDKN2A) A T 118 rs1554653960 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28897 P42771 (CDKN2A) G R 122 rs113798404 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28898 P42771 (CDKN2A) R C 124 rs34170727 Benign
28899 P42771 (CDKN2A) V D 126 rs104894098 Disease: Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601]
28900 P42771 (CDKN2A) A T 148 rs3731249 Benign
28901 P42773 (CDKN2C) T M 126 rs17851380 Benign
28902 P42785 (PRCP) E D 112 rs2229437 Benign
28903 P42785 (PRCP) T S 444 rs2228312 Benign
28904 P42858 (HTT) G E 551 rs118005095 Benign
28905 P42858 (HTT) P L 703 rs768047421 Disease: Lopes- Maciel-Rodan syndrome (LOMARS) [MIM:617435]
28906 P42858 (HTT) G R 893 rs363075 Benign
28907 P42858 (HTT) V I 1064 rs35892913 Benign
28908 P42858 (HTT) I M 1091 rs1143646 Benign
28909 P42858 (HTT) T A 1173 rs3025843 Benign
28910 P42858 (HTT) E A 1382 rs3025837 Benign
28911 P42858 (HTT) N H 1385 rs3025837 Benign
28912 P42858 (HTT) T N 1720 rs363125 Benign
28913 P42858 (HTT) D Y 2113 rs1143648 Benign
28914 P42858 (HTT) Y H 2309 rs362331 Benign
28915 P42858 (HTT) F L 2717 rs1085307052 Disease: Lopes- Maciel-Rodan syndrome (LOMARS) [MIM:617435]
28916 P42858 (HTT) V I 2786 rs362272 Benign
28917 P42892 (ECE1) T I 341 rs1076669 Benign
28918 P42892 (ECE1) R C 754 rs3026906 Disease: Hirschsprung disease, cardiac defects, and autonomic dysfunction (HCAD) [MIM:613870]
28919 P42898 (MTHFR) R Q 46 rs776483190 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28920 P42898 (MTHFR) R W 46 rs138189536 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28921 P42898 (MTHFR) R P 51 rs201618781 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28922 P42898 (MTHFR) R Q 52 rs754980119 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28923 P42898 (MTHFR) W S 59 rs786204007 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28924 P42898 (MTHFR) R Q 68 rs2066472 Benign
28925 P42898 (MTHFR) R G 68 rs763539350 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28926 P42898 (MTHFR) R W 82 rs786204009 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28927 P42898 (MTHFR) A T 113 rs147257424 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28928 P42898 (MTHFR) H Y 127 rs769381688 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28929 P42898 (MTHFR) T N 129 - Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28930 P42898 (MTHFR) C R 130 rs786204012 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28931 P42898 (MTHFR) Q P 147 rs786204013 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28932 P42898 (MTHFR) G V 149 - Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28933 P42898 (MTHFR) I M 153 rs767890671 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28934 P42898 (MTHFR) R Q 157 rs121434295 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28935 P42898 (MTHFR) A T 175 rs1182635980 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28936 P42898 (MTHFR) R Q 183 rs574132670 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28937 P42898 (MTHFR) A V 195 rs760161369 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28938 P42898 (MTHFR) G D 196 rs786204014 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28939 P42898 (MTHFR) V L 218 - Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28940 P42898 (MTHFR) A V 222 rs1801133 Benign
28941 P42898 (MTHFR) I L 225 rs200100285 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28942 P42898 (MTHFR) T M 227 rs748571395 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28943 P42898 (MTHFR) P L 251 - Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28944 P42898 (MTHFR) V F 253 - Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28945 P42898 (MTHFR) P S 254 rs786204017 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28946 P42898 (MTHFR) G V 255 rs786204018 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28947 P42898 (MTHFR) I N 256 rs373398993 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28948 P42898 (MTHFR) F V 257 rs786204019 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28949 P42898 (MTHFR) L P 323 rs121434297 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28950 P42898 (MTHFR) N S 324 rs267606887 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28951 P42898 (MTHFR) R C 325 rs371085894 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28952 P42898 (MTHFR) R C 335 rs748289202 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28953 P42898 (MTHFR) R H 335 rs543016186 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28954 P42898 (MTHFR) M T 338 rs368321176 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28955 P42898 (MTHFR) W G 339 rs267606886 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28956 P42898 (MTHFR) P S 348 rs786204021 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28957 P42898 (MTHFR) H Y 354 rs786204022 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28958 P42898 (MTHFR) R C 357 rs779993607 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28959 P42898 (MTHFR) R H 363 rs786204023 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28960 P42898 (MTHFR) K E 372 rs786204024 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28961 P42898 (MTHFR) R C 377 rs121434296 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28962 P42898 (MTHFR) R H 377 rs750323424 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28963 P42898 (MTHFR) G D 387 rs1430872491 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28964 P42898 (MTHFR) W S 421 rs200137991 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28965 P42898 (MTHFR) G R 422 rs45571736 Benign
28966 P42898 (MTHFR) E A 429 rs1801131 Benign
28967 P42898 (MTHFR) F S 435 rs754015864 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28968 P42898 (MTHFR) E A 470 - Benign
28969 P42898 (MTHFR) Y D 506 rs786204026 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28970 P42898 (MTHFR) R C 519 rs45496998 Benign
28971 P42898 (MTHFR) R H 519 rs45449298 Benign
28972 P42898 (MTHFR) V F 536 rs786204028 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28973 P42898 (MTHFR) G E 566 rs2274974 Benign
28974 P42898 (MTHFR) P L 572 rs144508139 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28975 P42898 (MTHFR) V G 574 - Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28976 P42898 (MTHFR) V G 575 rs786204031 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28977 P42898 (MTHFR) E K 586 rs983672500 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28978 P42898 (MTHFR) R Q 594 rs2274976 Benign
28979 P42898 (MTHFR) L P 598 rs786204034 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28980 P42898 (MTHFR) L P 628 rs786204037 Disease: Methylenetet rahydrofolat e reductase deficiency (MTHFRD) [MIM:236250]
28981 P42898 (MTHFR) T M 653 rs35737219 Benign
28982 P43003 (SLC1A3) E D 219 rs2032892 Benign
28983 P43003 (SLC1A3) P R 290 rs137852619 Disease: Episodic ataxia 6 (EA6) [MIM:612656]
28984 P43004 (SLC1A2) G R 82 rs886037942 Disease: Epileptic encephalopat hy, early infantile, 41 (EIEE41) [MIM:617105]
28985 P43004 (SLC1A2) L P 85 rs886037943 Disease: Epileptic encephalopat hy, early infantile, 41 (EIEE41) [MIM:617105]
28986 P43004 (SLC1A2) P R 289 - Disease: Epileptic encephalopat hy, early infantile, 41 (EIEE41) [MIM:617105]
28987 P43005 (SLC1A1) A G 27 rs2229885 Benign
28988 P43005 (SLC1A1) F Y 50 rs2228621 Benign
28989 P43005 (SLC1A1) R W 445 rs587777696 Disease: Dicarboxylic aminoaciduri a (DCBXA) [MIM:222730]
28990 P43007 (SLC1A4) G R 37 rs1064512 Benign
28991 P43007 (SLC1A4) E K 256 rs201278558 Disease: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657]
28992 P43007 (SLC1A4) V I 399 rs759458 Benign
28993 P43007 (SLC1A4) R W 457 rs761533681 Disease: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) [MIM:616657]
28994 P43026 (GDF5) R G 163 rs34534075 Benign
28995 P43026 (GDF5) M V 173 rs28936397 Disease: Brachydactyl y C (BDC) [MIM:113100]
28996 P43026 (GDF5) T P 201 - Disease: Brachydactyl y C (BDC) [MIM:113100]
28997 P43026 (GDF5) T N 203 - Disease: Brachydactyl y C (BDC) [MIM:113100]
28998 P43026 (GDF5) L P 263 - Disease: Brachydactyl y C (BDC) [MIM:113100]
28999 P43026 (GDF5) S A 276 rs224331 Benign
29000 P43026 (GDF5) L R 373 rs121909349 Disease: Symphalangis m, proximal 1B (SYM1B) [MIM:615298]
29001 P43026 (GDF5) R Q 378 rs121909350 Disease: Du Pan syndrome (DPS) [MIM:228900]
29002 P43026 (GDF5) R Q 380 rs397514668 Disease: Brachydactyl y A2 (BDA2) [MIM:112600]
29003 P43026 (GDF5) R C 399 rs397514519 Disease: Brachydactyl y A1, C (BDA1C) [MIM:615072]
29004 P43026 (GDF5) C Y 400 rs74315387 Disease: Acromesomeli c chondrodyspl asia, Grebe type (AMDG) [MIM:200700]
29005 P43026 (GDF5) W R 414 - Disease: Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
29006 P43026 (GDF5) P T 436 rs121909351 Disease: Du Pan syndrome (DPS) [MIM:228900]
29007 P43026 (GDF5) R L 438 rs74315388 Disease: Symphalangis m, proximal 1B (SYM1B) [MIM:615298]
29008 P43026 (GDF5) S T 439 - Disease: Du Pan syndrome (DPS) [MIM:228900]
29009 P43026 (GDF5) H L 440 - Disease: Du Pan syndrome (DPS) [MIM:228900]
29010 P43026 (GDF5) L P 441 rs28936683 Disease: Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
29011 P43026 (GDF5) N K 445 - Disease: Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
29012 P43026 (GDF5) N T 445 - Disease: Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
29013 P43026 (GDF5) S N 475 rs121909347 Disease: Multiple synostoses syndrome 2 (SYNS2) [MIM:610017]
29014 P43026 (GDF5) V M 486 - Disease: Brachydactyl y C (BDC) [MIM:113100]
29015 P43026 (GDF5) E K 491 rs74315389 Disease: Symphalangis m, proximal 1B (SYM1B) [MIM:615298]
29016 P43034 (PAFAH1B1) F S 31 rs121434486 Disease: Lissencephal y 1 (LIS1) [MIM:607432]
29017 P43034 (PAFAH1B1) H R 149 rs121434482 Disease: Lissencephal y 1 (LIS1) [MIM:607432]
29018 P43034 (PAFAH1B1) G S 162 rs121434487 Disease: Lissencephal y 1 (LIS1) [MIM:607432]
29019 P43034 (PAFAH1B1) S P 169 rs121434484 Disease: Subcortical band heterotopia (SBH) [MIM:607432]
29020 P43034 (PAFAH1B1) R P 241 rs121434488 Disease: Subcortical band heterotopia (SBH) [MIM:607432]
29021 P43034 (PAFAH1B1) H P 277 rs121434490 Disease: Lissencephal y 1 (LIS1) [MIM:607432]
29022 P43034 (PAFAH1B1) D H 317 rs121434485 Disease: Lissencephal y 1 (LIS1) [MIM:607432]
29023 P43080 (GUCA1A) P L 50 rs104893968 Disease: Cone dystrophy 3 (COD3) [MIM:602093]
29024 P43080 (GUCA1A) E K 89 - Disease: Cone dystrophy 3 (COD3) [MIM:602093]
29025 P43080 (GUCA1A) Y C 99 rs104893967 Disease: Cone dystrophy 3 (COD3) [MIM:602093]
29026 P43080 (GUCA1A) D E 100 - Disease: Cone dystrophy 3 (COD3) [MIM:602093]
29027 P43080 (GUCA1A) L F 151 rs121434631 Disease: Cone dystrophy 3 (COD3) [MIM:602093]
29028 P43080 (GUCA1A) E G 155 - Disease: Cone dystrophy 3 (COD3) [MIM:602093]
29029 P43080 (GUCA1A) G V 159 - Disease: Cone dystrophy 3 (COD3) [MIM:602093]
29030 P43115 (PTGER3) M L 169 rs5670 Benign
29031 P43115 (PTGER3) T M 319 rs13306020 Benign
29032 P43115 (PTGER3) N S 366 rs13306014 Benign
29033 P43115 (PTGER3) P L 375 rs5694 Benign
29034 P43119 (PTGIR) V M 25 rs2229127 Benign
29035 P43119 (PTGIR) S W 319 rs28590598 Benign
29036 P43121 (MCAM) E G 89 rs34587557 Benign
29037 P43146 (DCC) F L 23 rs9951523 Benign
29038 P43146 (DCC) R G 201 rs2229080 Benign
29039 P43146 (DCC) L R 679 rs2271042 Benign
29040 P43146 (DCC) I M 759 rs2278339 Benign
29041 P43146 (DCC) V G 793 rs1057519054 Disease: Mirror movements 1 (MRMV1) [MIM:157600]
29042 P43146 (DCC) G E 805 rs1057519055 Disease: Mirror movements 1 (MRMV1) [MIM:157600]
29043 P43146 (DCC) M V 1017 rs984274 Benign
29044 P43146 (DCC) H L 1191 rs2270950 Benign
29045 P43155 (CRAT) L M 372 rs3118635 Benign
29046 P43155 (CRAT) A P 624 rs17459086 Benign
29047 P43220 (GLP1R) P L 7 rs10305420 Benign
29048 P43220 (GLP1R) R K 20 rs10305421 Benign
29049 P43220 (GLP1R) R H 44 rs2295006 Benign
29050 P43220 (GLP1R) R Q 131 rs3765467 Benign
29051 P43220 (GLP1R) G S 168 rs6923761 Benign
29052 P43220 (GLP1R) L F 260 rs1042044 Benign
29053 P43220 (GLP1R) A T 316 rs10305492 Benign
29054 P43220 (GLP1R) S C 333 rs10305493 Benign
29055 P43220 (GLP1R) R Q 421 rs10305510 Benign
29056 P43235 (CTSK) G E 79 rs74315305 Disease: Pycnodysosto sis (PKND) [MIM:265800]
29057 P43235 (CTSK) R P 122 - Disease: Pycnodysosto sis (PKND) [MIM:265800]
29058 P43235 (CTSK) G R 146 rs74315302 Disease: Pycnodysosto sis (PKND) [MIM:265800]
29059 P43235 (CTSK) A V 277 rs74315304 Disease: Pycnodysosto sis (PKND) [MIM:265800]
29060 P43235 (CTSK) Y C 283 - Disease: Pycnodysosto sis (PKND) [MIM:265800]
29061 P43235 (CTSK) L P 309 rs29001685 Disease: Pycnodysosto sis (PKND) [MIM:265800]
29062 P43243 (MATR3) S C 85 rs121434591 Disease: Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]
29063 P43243 (MATR3) I V 89 rs528548235 Benign
29064 P43243 (MATR3) F C 115 rs587777300 Disease: Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]
29065 P43243 (MATR3) T A 622 rs587777301 Disease: Amyotrophic lateral sclerosis 21 (ALS21) [MIM:606070]
29066 P43243 (MATR3) E A 664 rs139589527 Benign
29067 P43243 (MATR3) N S 787 rs148402819 Benign
29068 P43246 (MSH2) A T 2 rs63750466 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29069 P43246 (MSH2) P Q 5 rs56170584 Benign
29070 P43246 (MSH2) T M 8 rs17217716 Benign
29071 P43246 (MSH2) T P 33 rs63751107 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29072 P43246 (MSH2) Y C 43 rs17217723 Benign
29073 P43246 (MSH2) H Q 46 rs33946261 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29074 P43246 (MSH2) R G 55 rs587782354 Benign
29075 P43246 (MSH2) L F 93 rs63751429 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29076 P43246 (MSH2) R H 96 rs63750002 Benign
29077 P43246 (MSH2) V I 102 rs193922373 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29078 P43246 (MSH2) R K 106 rs41295286 Benign
29079 P43246 (MSH2) K T 110 - Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29080 P43246 (MSH2) N S 127 rs17217772 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29081 P43246 (MSH2) N S 139 rs1553350676 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29082 P43246 (MSH2) V D 161 rs63750126 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29083 P43246 (MSH2) G A 162 rs63750773 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29084 P43246 (MSH2) G R 162 rs63750624 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29085 P43246 (MSH2) V D 163 rs63750214 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29086 P43246 (MSH2) V G 163 rs63750214 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29087 P43246 (MSH2) G R 164 rs63750582 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29088 P43246 (MSH2) D H 167 rs63750255 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29089 P43246 (MSH2) L P 173 rs63750070 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29090 P43246 (MSH2) L P 175 rs63751291 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29091 P43246 (MSH2) L P 187 rs63751444 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29092 P43246 (MSH2) L R 187 rs63751444 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29093 P43246 (MSH2) E G 198 rs63750327 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29094 P43246 (MSH2) E Q 205 rs63749984 Benign
29095 P43246 (MSH2) D Y 283 rs63750381 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29096 P43246 (MSH2) A T 305 rs63751454 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29097 P43246 (MSH2) G D 322 rs4987188 Benign
29098 P43246 (MSH2) A P 328 rs753237286 Benign
29099 P43246 (MSH2) N D 331 rs267607938 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29100 P43246 (MSH2) C Y 333 rs63750828 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29101 P43246 (MSH2) P S 336 rs63751062 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29102 P43246 (MSH2) P L 349 rs587779067 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29103 P43246 (MSH2) R S 359 rs63751617 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29104 P43246 (MSH2) V I 367 rs80285180 Benign
29105 P43246 (MSH2) K M 393 - Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29106 P43246 (MSH2) V E 470 rs267607959 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29107 P43246 (MSH2) D E 487 rs35107951 Benign
29108 P43246 (MSH2) M V 492 - Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29109 P43246 (MSH2) D Y 506 rs63750492 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29110 P43246 (MSH2) R P 524 rs63751207 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29111 P43246 (MSH2) R P 534 rs587778523 Benign
29112 P43246 (MSH2) T P 552 rs63750838 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29113 P43246 (MSH2) E V 562 rs63750997 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29114 P43246 (MSH2) N S 583 rs201118107 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29115 P43246 (MSH2) A V 600 rs63751236 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29116 P43246 (MSH2) D N 603 rs63750657 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29117 P43246 (MSH2) H N 610 rs267607980 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29118 P43246 (MSH2) P L 622 rs28929483 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29119 P43246 (MSH2) A P 636 rs63750875 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29120 P43246 (MSH2) R G 638 rs267607981 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29121 P43246 (MSH2) H R 639 rs587779116 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29122 P43246 (MSH2) H Y 639 rs28929484 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29123 P43246 (MSH2) C G 641 rs63749946 Benign
29124 P43246 (MSH2) Q E 645 rs267607982 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29125 P43246 (MSH2) E K 647 - Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29126 P43246 (MSH2) Y H 656 - Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29127 P43246 (MSH2) D G 660 rs1085308057 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29128 P43246 (MSH2) G R 669 rs63751668 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29129 P43246 (MSH2) P L 670 rs41294982 Benign
29130 P43246 (MSH2) G A 674 rs267607996 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29131 P43246 (MSH2) G R 674 rs63750234 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29132 P43246 (MSH2) G S 674 rs63750234 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29133 P43246 (MSH2) I T 679 - Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29134 P43246 (MSH2) M I 688 rs63750790 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29135 P43246 (MSH2) M V 688 - Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29136 P43246 (MSH2) G R 692 rs63750232 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29137 P43246 (MSH2) P L 696 rs267607994 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29138 P43246 (MSH2) C F 697 rs63750398 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29139 P43246 (MSH2) C R 697 rs63750961 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29140 P43246 (MSH2) V I 722 rs587781996 Benign
29141 P43246 (MSH2) S F 723 rs63750794 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29142 P43246 (MSH2) M V 729 - Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29143 P43246 (MSH2) T I 732 - Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29144 P43246 (MSH2) D Y 748 rs267608007 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29145 P43246 (MSH2) E K 749 rs63751477 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29146 P43246 (MSH2) I V 770 rs63750684 Benign
29147 P43246 (MSH2) M I 779 rs41295292 Benign
29148 P43246 (MSH2) T S 807 rs41295294 Benign
29149 P43246 (MSH2) M I 813 rs587781678 Benign
29150 P43246 (MSH2) M V 813 rs63749841 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29151 P43246 (MSH2) A T 834 rs63750757 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29152 P43246 (MSH2) N H 835 rs41295296 Benign
29153 P43246 (MSH2) H Q 839 rs267608016 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29154 P43246 (MSH2) H R 839 rs63750027 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29155 P43246 (MSH2) K E 845 rs63750571 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29156 P43246 (MSH2) K I 909 rs34319539 Benign
29157 P43246 (MSH2) L R 911 rs41295182 Benign
29158 P43246 (MSH2) K T 931 rs267608023 Disease: Hereditary non- polyposis colorectal cancer 1 (HNPCC1) [MIM:120435]
29159 P43250 (GRK6) T M 73 rs56382815 Benign
29160 P43251 (BTD) F V 128 rs397514355 Disease: Biotinidase deficiency (BTD deficiency) [MIM:253260]
29161 P43251 (BTD) A T 171 rs13073139 Disease: Biotinidase deficiency (BTD deficiency) [MIM:253260]
29162 P43251 (BTD) D Y 228 rs397514380 Disease: Biotinidase deficiency (BTD deficiency) [MIM:253260]
29163 P43251 (BTD) H R 323 rs397507176 Disease: Biotinidase deficiency (BTD deficiency) [MIM:253260]
29164 P43251 (BTD) P S 391 rs35034250 Benign
29165 P43251 (BTD) D H 444 rs13078881 Disease: Biotinidase deficiency (BTD deficiency) [MIM:253260]
29166 P43251 (BTD) G D 451 rs397514419 Disease: Biotinidase deficiency (BTD deficiency) [MIM:253260]
29167 P43251 (BTD) Q H 456 rs80338685 Disease: Biotinidase deficiency (BTD deficiency) [MIM:253260]
29168 P43251 (BTD) T M 532 rs104893688 Disease: Biotinidase deficiency (BTD deficiency) [MIM:253260]
29169 P43251 (BTD) R C 538 rs80338686 Disease: Biotinidase deficiency (BTD deficiency) [MIM:253260]
29170 P43268 (ETV4) F I 195 rs150119757 Benign
29171 P43268 (ETV4) R C 437 rs34260468 Benign
29172 P43304 (GPD2) R H 264 rs2116665 Benign
29173 P43304 (GPD2) K Q 453 rs35096779 Benign
29174 P43304 (GPD2) R H 525 rs1051916 Benign
29175 P43307 (SSR1) L S 28 rs10004 Benign
29176 P43320 (CRYBB2) A S 65 rs16986560 Benign
29177 P43351 (RAD52) R W 70 rs11571421 Benign
29178 P43351 (RAD52) Q E 221 rs4987206 Benign
29179 P43351 (RAD52) S N 287 rs11571463 Benign
29180 P43355 (MAGEA1) T A 32 rs2008160 Benign
29181 P43355 (MAGEA1) A T 63 rs2233044 Benign
29182 P43355 (MAGEA1) R Q 72 rs2008144 Benign
29183 P43358 (MAGEA4) L Q 137 rs1224431639 Benign
29184 P43358 (MAGEA4) A T 173 rs1047251 Benign
29185 P43358 (MAGEA4) G E 230 rs773875619 Benign
29186 P43359 (MAGEA5) Q H 29 rs188387 Benign
29187 P43360 (MAGEA6) S I 152 rs7056365 Benign
29188 P43361 (MAGEA8) R H 121 rs35744768 Benign
29189 P43361 (MAGEA8) S F 306 rs12010332 Benign
29190 P43362 (MAGEA9) P H 31 rs202146513 Benign
29191 P43363 (MAGEA10) R K 166 rs210585 Benign
29192 P43363 (MAGEA10) V I 234 rs210586 Benign
29193 P43364 (MAGEA11) S R 191 rs2233049 Benign
29194 P43365 (MAGEA12) E D 57 rs16996512 Benign
29195 P43366 (MAGEB1) R C 267 rs7062640 Benign
29196 P43403 (ZAP70) R L 175 rs55964305 Benign
29197 P43403 (ZAP70) P L 191 rs56403250 Benign
29198 P43403 (ZAP70) R W 192 rs199840952 Disease: Autoimmune disease, multisystem, infantile- onset, 2 (ADMIO2) [MIM:617006]
29199 P43403 (ZAP70) L R 337 rs1254428002 Disease: Immunodefici ency 48 (IMD48) [MIM:269840]
29200 P43403 (ZAP70) R P 360 rs869025224 Disease: Autoimmune disease, multisystem, infantile- onset, 2 (ADMIO2) [MIM:617006]
29201 P43403 (ZAP70) R C 465 rs113994174 Disease: Immunodefici ency 48 (IMD48) [MIM:269840]
29202 P43403 (ZAP70) R H 465 rs137853201 Disease: Immunodefici ency 48 (IMD48) [MIM:269840]
29203 P43403 (ZAP70) A V 507 - Disease: Immunodefici ency 48 (IMD48) [MIM:269840]
29204 P43403 (ZAP70) S R 518 rs104893674 Disease: Immunodefici ency 48 (IMD48) [MIM:269840]
29205 P43403 (ZAP70) W L 523 rs56189815 Benign
29206 P43403 (ZAP70) C R 564 - Disease: Immunodefici ency 48 (IMD48) [MIM:269840]
29207 P43405 (SYK) R H 45 rs16906862 Benign
29208 P43487 (RANBP1) A V 145 rs5746863 Benign
29209 P43489 (TNFRSF4) R C 10 rs35304565 Benign
29210 P43489 (TNFRSF4) R C 65 rs587777075 Disease: Immunodefici ency 16 (IMD16) [MIM:615593]
29211 P43626 (KIR2DL1) V F 5 rs2304224 Benign
29212 P43626 (KIR2DL1) A V 9 rs3810343 Benign
29213 P43626 (KIR2DL1) P R 37 rs35509911 Benign
29214 P43626 (KIR2DL1) F Y 66 rs673568 Benign
29215 P43626 (KIR2DL1) V L 111 rs687885 Benign
29216 P43626 (KIR2DL1) P L 135 rs11673144 Benign
29217 P43626 (KIR2DL1) P T 175 rs111799279 Benign
29218 P43626 (KIR2DL1) D N 184 rs147072532 Benign
29219 P43626 (KIR2DL1) H R 203 rs666590 Benign
29220 P43626 (KIR2DL1) K E 237 rs75232650 Benign
29221 P43626 (KIR2DL1) R C 266 rs34721508 Benign
29222 P43627 (KIR2DL2) A V 9 rs3810343 Benign
29223 P43627 (KIR2DL2) R P 37 rs613240 Benign
29224 P43627 (KIR2DL2) F Y 66 rs673568 Benign
29225 P43628 (KIR2DL3) V A 9 rs3810343 Benign
29226 P43628 (KIR2DL3) L R 32 rs202032116 Benign
29227 P43628 (KIR2DL3) H Q 34 rs683003 Benign
29228 P43628 (KIR2DL3) P R 37 rs613240 Benign
29229 P43628 (KIR2DL3) Q E 56 rs35719984 Benign
29230 P43628 (KIR2DL3) F Y 66 rs78713511 Benign
29231 P43628 (KIR2DL3) H R 71 rs138897134 Benign
29232 P43628 (KIR2DL3) P L 229 rs35861855 Benign
29233 P43628 (KIR2DL3) R I 242 - Benign
29234 P43628 (KIR2DL3) A T 304 rs4020187 Benign
29235 P43628 (KIR2DL3) R H 318 rs1049267 Benign
29236 P43629 (KIR3DL1) S L 2 rs605219 Benign
29237 P43629 (KIR3DL1) L F 13 rs1142881 Benign
29238 P43629 (KIR3DL1) M V 23 rs1142882 Benign
29239 P43629 (KIR3DL1) I V 68 rs643347 Benign
29240 P43629 (KIR3DL1) I L 75 rs1049150 Benign
29241 P43629 (KIR3DL1) P S 203 rs2273731 Benign
29242 P43629 (KIR3DL1) P L 220 rs680891 Benign
29243 P43629 (KIR3DL1) G R 259 rs1049215 Benign
29244 P43629 (KIR3DL1) S C 333 - Benign
29245 P43629 (KIR3DL1) L R 362 rs1130468 Benign
29246 P43629 (KIR3DL1) E Q 394 rs1130513 Benign
29247 P43630 (KIR3DL2) P A 40 - Benign
29248 P43630 (KIR3DL2) L V 113 rs3188286 Benign
29249 P43630 (KIR3DL2) E D 158 rs633870 Benign
29250 P43630 (KIR3DL2) R H 166 rs1048271 Benign
29251 P43630 (KIR3DL2) A P 228 rs1377032475 Benign
29252 P43630 (KIR3DL2) I T 252 - Benign
29253 P43630 (KIR3DL2) T M 397 rs3745902 Benign
29254 P43630 (KIR3DL2) K Q 439 rs3745903 Benign
29255 P43631 (KIR2DS2) A V 9 rs189739973 Benign
29256 P43631 (KIR2DS2) Y F 66 rs1049626616 Benign
29257 P43631 (KIR2DS2) K E 237 rs2262065 Benign
29258 P43631 (KIR2DS2) K N 254 rs1063326 Benign
29259 P43632 (KIR2DS4) K M 65 rs1130480 Benign
29260 P43632 (KIR2DS4) N D 68 rs1130481 Benign
29261 P43632 (KIR2DS4) H R 71 rs1130482 Benign
29262 P43632 (KIR2DS4) P R 89 rs1130487 Benign
29263 P43632 (KIR2DS4) P H 92 rs1143508 Benign
29264 P43632 (KIR2DS4) V D 93 rs1130491 Benign
29265 P43632 (KIR2DS4) S C 103 rs10406301 Benign
29266 P43632 (KIR2DS4) N H 178 rs4806591 Benign
29267 P43632 (KIR2DS4) A S 205 rs1049290 Benign
29268 P43632 (KIR2DS4) K N 254 rs1063326 Benign
29269 P43652 (AFM) R H 395 rs41265665 Benign
29270 P43652 (AFM) T S 404 rs2276444 Benign
29271 P43657 (LPAR6) I V 33 rs1060585 Benign
29272 P43657 (LPAR6) D V 63 rs879255262 Disease: Woolly hair autosomal recessive 1 with or without hypotrichosi s (ARWH1) [MIM:278150]
29273 P43657 (LPAR6) C W 137 rs4151553 Benign
29274 P43657 (LPAR6) I F 188 rs121434307 Disease: Woolly hair autosomal recessive 1 with or without hypotrichosi s (ARWH1) [MIM:278150]
29275 P43657 (LPAR6) E K 189 rs121434309 Disease: Woolly hair autosomal recessive 1 with or without hypotrichosi s (ARWH1) [MIM:278150]
29276 P43657 (LPAR6) W C 307 rs17071686 Benign
29277 P43681 (CHRNA4) S F 280 rs121909580 Disease: Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]
29278 P43681 (CHRNA4) S L 280 - Disease: Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513]
29279 P43681 (CHRNA4) E G 387 rs45604738 Benign
29280 P43681 (CHRNA4) S L 517 rs45622132 Benign
29281 P43694 (GATA4) A V 6 rs199922907 Disease: Ventricular septal defect 1 (VSD1) [MIM:614429]
29282 P43694 (GATA4) A P 9 rs864321699 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
29283 P43694 (GATA4) V L 39 rs1139241 Disease: -
29284 P43694 (GATA4) R W 43 rs387906770 Disease: Ventricular septal defect 1 (VSD1) [MIM:614429]
29285 P43694 (GATA4) L V 51 - Disease: Tetralogy of Fallot (TOF) [MIM:187500]
29286 P43694 (GATA4) S F 52 rs104894074 Disease: Atrial septal defect 2 (ASD2) [MIM:607941]
29287 P43694 (GATA4) P S 163 rs387906769 Disease: Atrioventric ular septal defect 4 (AVSD4) [MIM:614430]
29288 P43694 (GATA4) G R 221 rs398122402 Disease: Testicular anomalies with or without congenital heart disease (TACHD) [MIM:615542]
29289 P43694 (GATA4) P Q 226 - Disease: -
29290 P43694 (GATA4) C S 271 - Disease: -
29291 P43694 (GATA4) T S 279 - Disease: -
29292 P43694 (GATA4) T M 280 rs387906771 Disease: Atrial septal defect 2 (ASD2) [MIM:607941]
29293 P43694 (GATA4) N S 285 - Disease: Tetralogy of Fallot (TOF) [MIM:187500]
29294 P43694 (GATA4) G C 296 rs104894073 Disease: Atrial septal defect 2 (ASD2) [MIM:607941]
29295 P43694 (GATA4) G R 296 rs104894073 Disease: Ventricular septal defect 1 (VSD1) [MIM:614429]
29296 P43694 (GATA4) G S 296 rs104894073 Disease: Atrial septal defect 2 (ASD2) [MIM:607941]
29297 P43694 (GATA4) M V 310 rs387906772 Disease: Atrial septal defect 2 (ASD2) [MIM:607941]
29298 P43694 (GATA4) A V 346 rs115372595 Disease: Atrioventric ular septal defect 4 (AVSD4) [MIM:614430]
29299 P43694 (GATA4) E K 359 rs368489876 Disease: Ventricular septal defect 1 (VSD1) [MIM:614429]
29300 P43694 (GATA4) S G 377 rs3729856 Benign
29301 P43694 (GATA4) L M 403 rs777778466 Disease: Atrial septal defect 2 (ASD2) [MIM:607941]
29302 P43694 (GATA4) A V 411 rs55633527 Benign
29303 P43694 (GATA4) D N 425 rs56208331 Benign
29304 P43694 (GATA4) S T 429 - Disease: Ventricular septal defect 1 (VSD1) [MIM:614429]
29305 P43694 (GATA4) A V 442 rs146017816 Disease: Ventricular septal defect 1 (VSD1) [MIM:614429]
29306 P43699 (NKX2-1) Q H 172 - Disease: Chorea, hereditary benign (BHC) [MIM:118700]
29307 P43699 (NKX2-1) T R 203 - Disease: Choreoatheto sis and congenital hypothyroidi sm with or without pulmonary dysfunction (CAHTP) [MIM:610978]
29308 P43699 (NKX2-1) V F 205 rs137852692 Disease: Choreoatheto sis and congenital hypothyroidi sm with or without pulmonary dysfunction (CAHTP) [MIM:610978]
29309 P43699 (NKX2-1) W L 208 rs28936672 Disease: Chorea, hereditary benign (BHC) [MIM:118700]
29310 P43699 (NKX2-1) W S 208 - Disease: Chorea, hereditary benign (BHC) [MIM:118700]
29311 P43699 (NKX2-1) R S 213 rs28936671 Disease: Chorea, hereditary benign (BHC) [MIM:118700]
29312 P43699 (NKX2-1) A V 339 rs537209983 Disease: Thyroid cancer, non- medullary, 1 (NMTC1) [MIM:188550]
29313 P43897 (TSFM) C S 240 rs750799705 Disease: Combined oxidative phosphorylat ion deficiency 3 (COXPD3) [MIM:610505]
29314 P43897 (TSFM) R W 312 rs121909485 Disease: Combined oxidative phosphorylat ion deficiency 3 (COXPD3) [MIM:610505]
29315 P45378 (TNNT3) R C 74 rs199474721 Disease: Arthrogrypos is, distal, 2B2 (DA2B2) [MIM:618435]
29316 P45378 (TNNT3) R H 74 rs121434638 Disease: Arthrogrypos is, distal, 2B2 (DA2B2) [MIM:618435]
29317 P45379 (TNNT2) A V 38 rs200754249 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29318 P45379 (TNNT2) F L 80 rs886039053 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29319 P45379 (TNNT2) I N 89 rs121964855 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29320 P45379 (TNNT2) R L 102 rs121964856 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29321 P45379 (TNNT2) R Q 102 rs121964856 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29322 P45379 (TNNT2) R W 102 rs397516456 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29323 P45379 (TNNT2) R L 104 rs397516457 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29324 P45379 (TNNT2) A V 114 rs727504245 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29325 P45379 (TNNT2) F I 120 rs121964858 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29326 P45379 (TNNT2) F V 120 rs121964858 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29327 P45379 (TNNT2) R K 139 rs2996496 Benign
29328 P45379 (TNNT2) R K 140 rs2996496 Benign
29329 P45379 (TNNT2) R C 140 rs397516463 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29330 P45379 (TNNT2) R W 141 rs74315380 Disease: Cardiomyopat hy, dilated 1D (CMD1D) [MIM:601494]
29331 P45379 (TNNT2) R W 151 rs74315379 Disease: Cardiomyopat hy, dilated 1D (CMD1D) [MIM:601494]
29332 P45379 (TNNT2) E K 173 - Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29333 P45379 (TNNT2) S F 189 rs727504246 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29334 P45379 (TNNT2) R L 215 rs121964860 Disease: Cardiomyopat hy, dilated 1D (CMD1D) [MIM:601494]
29335 P45379 (TNNT2) I T 221 rs45520032 Benign
29336 P45379 (TNNT2) I T 231 rs45520032 Benign
29337 P45379 (TNNT2) S T 249 rs2996495 Benign
29338 P45379 (TNNT2) E D 254 rs45466197 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29339 P45379 (TNNT2) K R 263 rs3730238 Benign
29340 P45379 (TNNT2) N Y 279 rs4523540 Benign
29341 P45379 (TNNT2) N I 281 rs863225119 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29342 P45379 (TNNT2) R C 288 rs121964857 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29343 P45379 (TNNT2) R P 288 rs397516484 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29344 P45379 (TNNT2) R C 296 rs367785431 Disease: Cardiomyopat hy, familial hypertrophic 2 (CMH2) [MIM:115195]
29345 P45381 (ASPA) I T 16 rs769653717 Disease: Canavan disease (CAND) [MIM:271900]
29346 P45381 (ASPA) H P 21 - Disease: Canavan disease (CAND) [MIM:271900]
29347 P45381 (ASPA) E G 24 rs104894551 Disease: Canavan disease (CAND) [MIM:271900]
29348 P45381 (ASPA) E K 24 - Disease: Canavan disease (CAND) [MIM:271900]
29349 P45381 (ASPA) G R 27 rs766328537 Disease: Canavan disease (CAND) [MIM:271900]
29350 P45381 (ASPA) L P 30 rs1555538144 Disease: Canavan disease (CAND) [MIM:271900]
29351 P45381 (ASPA) A T 57 - Disease: Canavan disease (CAND) [MIM:271900]
29352 P45381 (ASPA) A V 57 rs1555538148 Disease: Canavan disease (CAND) [MIM:271900]
29353 P45381 (ASPA) R T 63 rs1555538151 Disease: Canavan disease (CAND) [MIM:271900]
29354 P45381 (ASPA) D A 68 - Disease: Canavan disease (CAND) [MIM:271900]
29355 P45381 (ASPA) L R 69 rs776777887 Disease: Canavan disease (CAND) [MIM:271900]
29356 P45381 (ASPA) G V 101 - Disease: Canavan disease (CAND) [MIM:271900]
29357 P45381 (ASPA) D E 114 - Disease: Canavan disease (CAND) [MIM:271900]
29358 P45381 (ASPA) D Y 114 rs1446467099 Disease: Canavan disease (CAND) [MIM:271900]
29359 P45381 (ASPA) G E 123 rs1057521115 Disease: Canavan disease (CAND) [MIM:271900]
29360 P45381 (ASPA) E K 129 rs773049803 Disease: Canavan disease (CAND) [MIM:271900]
29361 P45381 (ASPA) I T 143 rs777936704 Disease: Canavan disease (CAND) [MIM:271900]
29362 P45381 (ASPA) C R 152 rs104894548 Disease: Canavan disease (CAND) [MIM:271900]
29363 P45381 (ASPA) C W 152 - Disease: Canavan disease (CAND) [MIM:271900]
29364 P45381 (ASPA) C Y 152 - Disease: Canavan disease (CAND) [MIM:271900]
29365 P45381 (ASPA) R C 168 rs937670540 Disease: Canavan disease (CAND) [MIM:271900]
29366 P45381 (ASPA) R H 168 rs770706390 Disease: Canavan disease (CAND) [MIM:271900]
29367 P45381 (ASPA) I T 170 rs144321760 Disease: Canavan disease (CAND) [MIM:271900]
29368 P45381 (ASPA) I T 177 - Disease: Canavan disease (CAND) [MIM:271900]
29369 P45381 (ASPA) G V 180 rs1014551540 Disease: Canavan disease (CAND) [MIM:271900]
29370 P45381 (ASPA) P T 181 rs786204572 Disease: Canavan disease (CAND) [MIM:271900]
29371 P45381 (ASPA) P H 183 rs1555539857 Disease: Canavan disease (CAND) [MIM:271900]
29372 P45381 (ASPA) V F 186 - Disease: Canavan disease (CAND) [MIM:271900]
29373 P45381 (ASPA) M R 195 - Disease: Canavan disease (CAND) [MIM:271900]
29374 P45381 (ASPA) D H 204 - Disease: Canavan disease (CAND) [MIM:271900]
29375 P45381 (ASPA) Y C 231 rs104894550 Disease: Canavan disease (CAND) [MIM:271900]
29376 P45381 (ASPA) H R 244 rs1057516995 Disease: Canavan disease (CAND) [MIM:271900]
29377 P45381 (ASPA) Q R 248 - Disease: Canavan disease (CAND) [MIM:271900]
29378 P45381 (ASPA) D V 249 rs104894552 Disease: Canavan disease (CAND) [MIM:271900]
29379 P45381 (ASPA) G R 274 rs761064915 Disease: Canavan disease (CAND) [MIM:271900]
29380 P45381 (ASPA) P L 280 rs1555541310 Disease: Canavan disease (CAND) [MIM:271900]
29381 P45381 (ASPA) P S 280 rs750505963 Disease: Canavan disease (CAND) [MIM:271900]
29382 P45381 (ASPA) E A 285 rs28940279 Disease: Canavan disease (CAND) [MIM:271900]
29383 P45381 (ASPA) A D 286 rs1414684396 Disease: Canavan disease (CAND) [MIM:271900]
29384 P45381 (ASPA) A T 287 rs774323189 Disease: Canavan disease (CAND) [MIM:271900]
29385 P45381 (ASPA) F S 295 - Disease: Canavan disease (CAND) [MIM:271900]
29386 P45381 (ASPA) A E 305 rs28940574 Disease: Canavan disease (CAND) [MIM:271900]
29387 P45381 (ASPA) C G 310 rs376854191 Benign
29388 P45452 (MMP13) H L 2 rs554797 Benign
29389 P45452 (MMP13) F S 74 rs121909498 Disease: Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111]
29390 P45452 (MMP13) F S 75 rs121909497 Disease: Spondyloepim etaphyseal dysplasia, Missouri type (SEMD-MO) [MIM:602111]
29391 P45452 (MMP13) M T 91 rs121909499 Disease: Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111]
29392 P45452 (MMP13) W G 207 rs140059558 Disease: Metaphyseal dysplasia, Spahr type (MDST) [MIM:250400]
29393 P45452 (MMP13) H N 232 rs121909500 Disease: Metaphyseal anadysplasia 1 (MANDP1) [MIM:602111]
29394 P45452 (MMP13) D G 390 rs17860568 Benign
29395 P45844 (ABCG1) F L 668 - Benign
29396 P45877 (PPIC) K R 86 rs34341374 Benign
29397 P45877 (PPIC) H L 160 rs45560036 Benign
29398 P45877 (PPIC) N S 190 rs451195 Benign
29399 P45880 (VDAC2) A V 24 - Benign
29400 P45954 (ACADSB) R K 13 rs12263012 Benign
29401 P45954 (ACADSB) S G 209 rs1799823 Benign
29402 P45954 (ACADSB) L F 255 rs137852649 Disease: Short /branched- chain acyl-CoA dehydrogenas e deficiency (SBCADD) [MIM:610006]
29403 P45954 (ACADSB) I V 316 rs1131430 Benign
29404 P45954 (ACADSB) E G 376 rs12357783 Benign
29405 P45983 (MAPK8) E K 365 rs45483593 Benign
29406 P45984 (MAPK9) A T 246 rs35421153 Benign
29407 P45984 (MAPK9) G A 268 rs35693958 Benign
29408 P45984 (MAPK9) R I 366 rs55736180 Benign
29409 P45985 (MAP2K4) S R 16 rs17855590 Benign
29410 P46013 (MKI67) N S 104 rs2071498 Benign
29411 P46013 (MKI67) W R 238 rs7095325 Benign
29412 P46013 (MKI67) E D 497 rs11016076 Benign
29413 P46013 (MKI67) Q P 574 rs4471342 Benign
29414 P46013 (MKI67) I L 631 rs997983 Benign
29415 P46013 (MKI67) R W 832 rs34916904 Benign
29416 P46013 (MKI67) L V 854 rs2240 Benign
29417 P46013 (MKI67) A V 872 rs2853344 Benign
29418 P46013 (MKI67) G S 1042 rs2152143 Benign
29419 P46013 (MKI67) T S 1120 rs11016074 Benign
29420 P46013 (MKI67) T I 1247 rs4750685 Benign
29421 P46013 (MKI67) E V 1403 rs3740423 Benign
29422 P46013 (MKI67) L W 1470 rs2853345 Benign
29423 P46013 (MKI67) V M 1559 rs7918199 Benign
29424 P46013 (MKI67) P L 1622 rs2782871 Benign
29425 P46013 (MKI67) T A 1849 rs2782872 Benign
29426 P46013 (MKI67) R Q 1876 rs11591817 Benign
29427 P46013 (MKI67) L I 1951 rs34116632 Benign
29428 P46013 (MKI67) I T 2101 rs11016073 Benign
29429 P46013 (MKI67) T N 2337 rs7083622 Benign
29430 P46013 (MKI67) N S 2363 rs7071768 Benign
29431 P46013 (MKI67) R H 2607 rs34688192 Benign
29432 P46013 (MKI67) P L 2608 rs1063535 Benign
29433 P46013 (MKI67) R H 2649 rs12777740 Benign
29434 P46013 (MKI67) T P 2720 rs1050767 Benign
29435 P46013 (MKI67) D G 2760 rs10082391 Benign
29436 P46013 (MKI67) R Q 2786 rs10764749 Benign
29437 P46013 (MKI67) S N 2793 rs10082533 Benign
29438 P46013 (MKI67) R H 2845 rs11016072 Benign
29439 P46013 (MKI67) T S 2868 rs2071496 Benign
29440 P46013 (MKI67) Q R 2904 rs11016071 Benign
29441 P46013 (MKI67) N D 3097 rs2798669 Benign
29442 P46013 (MKI67) E G 3102 rs34750407 Benign
29443 P46013 (MKI67) T S 3150 rs11106 Benign
29444 P46013 (MKI67) K E 3217 rs8473 Benign
29445 P46019 (PHKA2) E Q 38 rs17313469 Benign
29446 P46019 (PHKA2) H P 132 rs137852291 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29447 P46019 (PHKA2) H Y 132 rs137852292 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29448 P46019 (PHKA2) R C 186 rs137852294 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29449 P46019 (PHKA2) R H 186 rs137852290 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29450 P46019 (PHKA2) K E 189 rs137852295 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29451 P46019 (PHKA2) G V 193 - Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29452 P46019 (PHKA2) R H 295 rs797044877 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29453 P46019 (PHKA2) D G 299 rs137852289 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29454 P46019 (PHKA2) P S 399 - Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29455 P46019 (PHKA2) G R 416 rs16980929 Benign
29456 P46019 (PHKA2) P L 498 rs199792389 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29457 P46019 (PHKA2) P R 869 rs777137574 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29458 P46019 (PHKA2) R W 916 - Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29459 P46019 (PHKA2) M I 1113 - Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29460 P46019 (PHKA2) T I 1114 rs137852293 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29461 P46019 (PHKA2) E K 1125 rs1555988071 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29462 P46019 (PHKA2) P L 1205 rs137852288 Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29463 P46019 (PHKA2) G W 1207 - Disease: Glycogen storage disease 9A (GSD9A) [MIM:306000]
29464 P46020 (PHKA1) D V 299 rs137852547 Disease: Glycogen storage disease 9D (GSD9D) [MIM:300559]
29465 P46059 (SLC15A1) V I 21 rs8187818 Benign
29466 P46059 (SLC15A1) F Y 28 rs8187817 Benign
29467 P46059 (SLC15A1) S N 117 rs2297322 Benign
29468 P46059 (SLC15A1) S R 117 rs8187821 Benign
29469 P46059 (SLC15A1) V M 122 rs8187820 Benign
29470 P46059 (SLC15A1) G A 419 rs4646227 Benign
29471 P46059 (SLC15A1) V I 450 rs2274828 Benign
29472 P46059 (SLC15A1) T N 451 rs8187838 Benign
29473 P46059 (SLC15A1) R C 459 rs2274827 Benign
29474 P46059 (SLC15A1) P S 537 rs8187830 Benign
29475 P46060 (RANGAP1) E Q 133 rs2229752 Benign
29476 P46063 (RECQL) V I 102 rs1065751 Benign
29477 P46063 (RECQL) V I 372 rs2230003 Benign
29478 P46063 (RECQL) K T 487 rs6501 Benign
29479 P46063 (RECQL) D H 495 rs6499 Benign
29480 P46087 (NOP2) L S 73 rs1128164 Benign
29481 P46089 (GPR3) R H 222 rs734852 Benign
29482 P46091 (GPR1) I V 307 rs3732083 Benign
29483 P46093 (GPR4) S N 295 rs36012326 Benign
29484 P46098 (HTR3A) A T 33 rs117793058 Benign
29485 P46098 (HTR3A) S N 253 rs4938063 Benign
29486 P46098 (HTR3A) R H 344 rs35815285 Benign
29487 P46098 (HTR3A) P R 391 - Benign
29488 P46098 (HTR3A) R Q 409 rs183698487 Benign
29489 P46100 (ATRX) G E 175 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29490 P46100 (ATRX) N S 179 rs398123425 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29491 P46100 (ATRX) P A 190 rs122445103 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29492 P46100 (ATRX) P L 190 rs1057518708 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29493 P46100 (ATRX) P S 190 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29494 P46100 (ATRX) L F 192 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29495 P46100 (ATRX) V I 194 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29496 P46100 (ATRX) C S 200 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29497 P46100 (ATRX) Q P 219 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29498 P46100 (ATRX) C R 220 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29499 P46100 (ATRX) C Y 220 rs122445111 Disease: Mental retardation- hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580]
29500 P46100 (ATRX) W S 222 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29501 P46100 (ATRX) C F 243 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29502 P46100 (ATRX) R C 246 rs122445105 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29503 P46100 (ATRX) R L 246 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29504 P46100 (ATRX) G C 249 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29505 P46100 (ATRX) G D 249 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29506 P46100 (ATRX) L S 409 rs122445109 Disease: Mental retardation- hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580]
29507 P46100 (ATRX) Q E 545 rs35738915 Benign
29508 P46100 (ATRX) S P 596 rs1051678 Benign
29509 P46100 (ATRX) E G 740 rs1051680 Benign
29510 P46100 (ATRX) Q E 929 rs3088074 Benign
29511 P46100 (ATRX) V F 1552 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29512 P46100 (ATRX) H R 1609 rs122445093 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29513 P46100 (ATRX) C R 1614 rs122445094 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29514 P46100 (ATRX) T M 1621 rs122445106 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29515 P46100 (ATRX) L S 1645 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29516 P46100 (ATRX) K N 1650 rs122445095 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29517 P46100 (ATRX) P S 1713 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29518 P46100 (ATRX) R K 1742 rs122445104 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29519 P46100 (ATRX) Y C 1847 - Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29520 P46100 (ATRX) N S 1860 rs45439799 Benign
29521 P46100 (ATRX) D V 2035 rs122445096 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29522 P46100 (ATRX) I T 2050 rs122445110 Disease: Mental retardation- hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580]
29523 P46100 (ATRX) Y H 2084 rs122445097 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29524 P46100 (ATRX) R Q 2131 rs122445101 Disease: Mental retardation- hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580]
29525 P46100 (ATRX) Y C 2163 rs122445098 Disease: Alpha- thalassemia mental retardation syndrome, X-linked (ATRX) [MIM:301040]
29526 P46100 (ATRX) R G 2271 rs122445112 Disease: Mental retardation- hypotonic facies syndrome, X-linked, 1 (MRXHF1) [MIM:309580]
29527 P46199 (MTIF2) T N 59 rs1056445 Benign
29528 P46199 (MTIF2) V I 556 rs11357 Benign
29529 P46379 (BAG6) S P 625 rs1052486 Benign
29530 P46379 (BAG6) A V 728 rs11548856 Benign
29531 P46439 (GSTM5) A T 67 rs17854972 Benign
29532 P46439 (GSTM5) L P 179 rs2227963 Benign
29533 P46459 (NSF) T M 476 rs155733 Benign
29534 P46527 (CDKN1B) R W 15 rs2066828 Benign
29535 P46527 (CDKN1B) P L 69 rs777354267 Benign
29536 P46527 (CDKN1B) V G 109 rs2066827 Benign
29537 P46531 (NOTCH1) Q R 300 rs11574885 Benign
29538 P46531 (NOTCH1) C R 429 rs587777736 Disease: Adams-Oliver syndrome 5 (AOS5) [MIM:616028]
29539 P46531 (NOTCH1) R W 879 rs11574895 Benign
29540 P46531 (NOTCH1) C Y 1496 rs587781259 Disease: Adams-Oliver syndrome 5 (AOS5) [MIM:616028]
29541 P46531 (NOTCH1) V I 1671 rs2229968 Benign
29542 P46531 (NOTCH1) D N 1989 rs587777734 Disease: Adams-Oliver syndrome 5 (AOS5) [MIM:616028]
29543 P46597 (ASMT) N H 13 rs121918819 Benign
29544 P46597 (ASMT) N K 17 rs17149149 Benign
29545 P46597 (ASMT) E Q 61 rs121918823 Benign
29546 P46597 (ASMT) K E 81 rs117343570 Benign
29547 P46597 (ASMT) R K 111 - Benign
29548 P46597 (ASMT) R W 115 rs201053197 Benign
29549 P46597 (ASMT) G S 151 rs192710293 Benign
29550 P46597 (ASMT) V I 166 rs373339042 Benign
29551 P46597 (ASMT) V M 171 rs121918820 Benign
29552 P46597 (ASMT) V G 179 - Benign
29553 P46597 (ASMT) D G 210 rs121918824 Benign
29554 P46597 (ASMT) I M 211 rs201316181 Benign
29555 P46597 (ASMT) T M 217 rs148036160 Benign
29556 P46597 (ASMT) K R 219 rs121918825 Benign
29557 P46597 (ASMT) P L 243 rs121918826 Benign
29558 P46597 (ASMT) Y H 248 - Benign
29559 P46597 (ASMT) I M 269 rs146121655 Benign
29560 P46597 (ASMT) C S 273 rs121918827 Benign
29561 P46597 (ASMT) G A 278 - Benign
29562 P46597 (ASMT) E D 288 rs121918821 Benign
29563 P46597 (ASMT) R Q 291 rs121918828 Benign
29564 P46597 (ASMT) L F 298 rs121918822 Benign
29565 P46597 (ASMT) V M 305 - Benign
29566 P46663 (BDKRB1) A V 250 rs2229459 Benign
29567 P46663 (BDKRB1) R Q 317 rs8004609 Benign
29568 P46695 (IER3) A P 127 rs3094124 Benign
29569 P46721 (SLCO1A2) I T 13 rs10841795 Benign
29570 P46721 (SLCO1A2) N Y 128 rs11568567 Benign
29571 P46721 (SLCO1A2) N I 135 rs45502302 Benign
29572 P46721 (SLCO1A2) E D 172 rs11568563 Benign
29573 P46721 (SLCO1A2) A T 187 rs750165758 Benign
29574 P46721 (SLCO1A2) I V 355 rs45628437 Benign
29575 P46721 (SLCO1A2) T S 668 rs11568557 Benign
29576 P46734 (MAP2K3) R T 26 - Benign
29577 P46734 (MAP2K3) P T 40 rs33911218 Benign
29578 P46734 (MAP2K3) R T 55 rs36047035 Benign
29579 P46734 (MAP2K3) S P 68 rs34105301 Benign
29580 P46734 (MAP2K3) A T 84 rs2305873 Benign
29581 P46734 (MAP2K3) M I 90 rs36076766 Benign
29582 P46734 (MAP2K3) R L 94 rs56067280 Benign
29583 P46734 (MAP2K3) R W 96 rs56216806 Benign
29584 P46734 (MAP2K3) R H 293 rs35206134 Benign
29585 P46734 (MAP2K3) V M 339 rs2363198 Benign
29586 P46736 (BRCC3) I V 74 rs28997578 Benign
29587 P46777 (RPL5) G S 140 rs121434406 Disease: Diamond- Blackfan anemia 6 (DBA6) [MIM:612561]
29588 P46777 (RPL5) Y C 210 rs11540832 Benign
29589 P46777 (RPL5) A V 285 - Disease: Diamond- Blackfan anemia 6 (DBA6) [MIM:612561]
29590 P46778 (RPL21) F S 15 rs17085349 Benign
29591 P46778 (RPL21) R Q 32 rs587777527 Disease: Hypotrichosi s 12 (HYPT12) [MIM:615885]
29592 P46779 (RPL28) R L 66 rs13502 Benign
29593 P46821 (MAP1B) I V 594 rs1866374 Benign
29594 P46821 (MAP1B) E G 869 rs16876070 Benign
29595 P46821 (MAP1B) P L 1296 rs34093016 Benign
29596 P46821 (MAP1B) S R 1917 rs13153166 Benign
29597 P46934 (NEDD4) M V 33 rs1912403 Benign
29598 P46934 (NEDD4) R Q 679 rs2303580 Benign
29599 P46934 (NEDD4) N S 698 rs2303579 Benign
29600 P46937 (YAP1) P L 139 rs1162286204 Benign
29601 P46937 (YAP1) S L 227 rs376161041 Benign
29602 P46937 (YAP1) M V 330 rs777949318 Benign
29603 P46937 (YAP1) G E 462 - Benign
29604 P46939 (UTRN) L I 1880 rs12204715 Benign
29605 P46939 (UTRN) A T 1974 rs12204734 Benign
29606 P46939 (UTRN) G D 2060 rs35676466 Benign
29607 P46939 (UTRN) N S 2202 rs1534443 Benign
29608 P46940 (IQGAP1) S A 256 rs12324924 Benign
29609 P46952 (HAAO) I V 37 rs3816183 Benign
29610 P46952 (HAAO) T S 42 rs3816182 Benign
29611 P46976 (GYG1) A P 16 rs200947378 Disease: Polyglucosan body myopathy 2 (PGBM2) [MIM:616199]
29612 P46976 (GYG1) T M 83 rs267606858 Disease: Glycogen storage disease 15 (GSD15) [MIM:613507]
29613 P46976 (GYG1) D H 102 rs143137713 Disease: Polyglucosan body myopathy 2 (PGBM2) [MIM:616199]
29614 P46977 (STT3A) V A 626 rs587777216 Disease: Congenital disorder of glycosylatio n 1W (CDG1W) [MIM:615596]
29615 P47211 (GALR1) W C 15 rs1143093 Benign
29616 P47211 (GALR1) S N 334 rs5376 Benign
29617 P47211 (GALR1) P L 342 rs5377 Benign
29618 P47710 (CSN1S1) A V 117 rs10030475 Benign
29619 P47712 (PLA2G4A) G R 103 rs28395828 Benign
29620 P47712 (PLA2G4A) V I 224 rs12720588 Benign
29621 P47712 (PLA2G4A) D H 575 - Disease: Gastrointest inal ulceration, recurrent, with dysfunctiona l platelets (GURDP) [MIM:618372]
29622 P47712 (PLA2G4A) I V 637 rs28395831 Benign
29623 P47712 (PLA2G4A) R K 651 rs2307198 Benign
29624 P47736 (RAP1GAP) A T 107 rs2275363 Benign
29625 P47804 (RGR) S R 66 rs104894187 Disease: Retinitis pigmentosa 44 (RP44) [MIM:613769]
29626 P47804 (RGR) V L 132 rs370808520 Benign
29627 P47804 (RGR) H N 152 rs150808273 Benign
29628 P47804 (RGR) A T 234 rs377043137 Benign
29629 P47804 (RGR) S F 241 rs61730895 Benign
29630 P47869 (GABRA2) M T 263 - Disease: Epileptic encephalopat hy, early infantile, 78 (EIEE78) [MIM:618557]
29631 P47869 (GABRA2) V A 284 - Disease: Epileptic encephalopat hy, early infantile, 78 (EIEE78) [MIM:618557]
29632 P47869 (GABRA2) L V 291 - Disease: Epileptic encephalopat hy, early infantile, 78 (EIEE78) [MIM:618557]
29633 P47869 (GABRA2) T K 292 - Disease: Epileptic encephalopat hy, early infantile, 78 (EIEE78) [MIM:618557]
29634 P47869 (GABRA2) F L 325 - Disease: Epileptic encephalopat hy, early infantile, 78 (EIEE78) [MIM:618557]
29635 P47869 (GABRA2) N K 377 - Benign
29636 P47870 (GABRB2) T P 287 rs1554093894 Disease: Epileptic encephalopat hy, infantile or early childhood, 2 (IECEE2) [MIM:617829]
29637 P47871 (GCGR) G S 40 rs1801483 Benign
29638 P47871 (GCGR) P A 114 rs5385 Benign
29639 P47871 (GCGR) F C 303 rs5387 Benign
29640 P47872 (SCTR) D N 110 rs6726491 Benign
29641 P47872 (SCTR) A P 122 rs3731600 Benign
29642 P47874 (OMP) R W 26 rs2233546 Benign
29643 P47874 (OMP) G R 36 rs2233548 Benign
29644 P47881 (OR3A1) S G 78 rs16952828 Benign
29645 P47881 (OR3A1) R Q 125 rs703903 Benign
29646 P47883 (OR3A4P) I V 42 rs9905684 Benign
29647 P47883 (OR3A4P) S R 86 rs9905086 Benign
29648 P47883 (OR3A4P) E Q 103 rs9903671 Benign
29649 P47883 (OR3A4P) I V 120 rs9906179 Benign
29650 P47883 (OR3A4P) P T 168 rs9911226 Benign
29651 P47883 (OR3A4P) N S 175 rs9912090 Benign
29652 P47883 (OR3A4P) Y H 181 rs2855677 Benign
29653 P47883 (OR3A4P) S A 193 rs231678 Benign
29654 P47883 (OR3A4P) R K 237 rs231677 Benign
29655 P47883 (OR3A4P) V I 300 rs8076130 Benign
29656 P47887 (OR1E2) C R 27 rs769431 Benign
29657 P47888 (OR3A3) L F 132 rs769432 Benign
29658 P47888 (OR3A3) W L 158 rs916039 Benign
29659 P47888 (OR3A3) M V 287 rs12939997 Benign
29660 P47888 (OR3A3) K E 317 rs227787 Benign
29661 P47890 (OR1G1) Q H 88 rs9892491 Benign
29662 P47893 (OR3A2) L V 190 rs9901356 Benign
29663 P47895 (ALDH1A3) V M 71 rs386834230 Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29664 P47895 (ALDH1A3) R C 89 rs397514652 Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29665 P47895 (ALDH1A3) A V 145 rs754619607 Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29666 P47895 (ALDH1A3) C Y 174 - Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29667 P47895 (ALDH1A3) P R 355 - Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29668 P47895 (ALDH1A3) I F 369 - Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29669 P47895 (ALDH1A3) G R 382 - Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29670 P47895 (ALDH1A3) M V 386 rs3803430 Benign
29671 P47895 (ALDH1A3) E K 411 - Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29672 P47895 (ALDH1A3) N K 466 - Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29673 P47895 (ALDH1A3) A P 493 rs397514653 Disease: Microphthalm ia, isolated, 8 (MCOP8) [MIM:615113]
29674 P47897 (QARS1) G V 45 rs587777331 Disease: Microcephaly , progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]
29675 P47897 (QARS1) Y H 57 rs587777333 Disease: Microcephaly , progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]
29676 P47897 (QARS1) R W 403 rs587777332 Disease: Microcephaly , progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]
29677 P47897 (QARS1) R W 515 rs587777334 Disease: Microcephaly , progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]
29678 P47901 (AVPR1B) K N 65 rs35369693 Benign
29679 P47901 (AVPR1B) G R 191 rs33990840 Benign
29680 P47901 (AVPR1B) H Q 224 rs3891058 Benign
29681 P47901 (AVPR1B) S G 267 rs36030374 Benign
29682 P47901 (AVPR1B) R H 364 rs28632197 Benign
29683 P47902 (CDX1) P R 130 rs2302275 Benign
29684 P47944 (MT4) Y C 30 rs666636 Benign
29685 P47944 (MT4) W R 31 rs666647 Benign
29686 P47944 (MT4) G D 48 rs11643815 Benign
29687 P47985 (UQCRFS1) S A 6 rs8100724 Benign
29688 P47989 (XDH) E K 133 rs45447191 Benign
29689 P47989 (XDH) R C 149 rs72549369 Disease: Xanthinuria 1 (XAN1) [MIM:278300]
29690 P47989 (XDH) G R 172 rs45523133 Benign
29691 P47989 (XDH) T M 235 rs45469499 Benign
29692 P47989 (XDH) K M 395 rs34929837 Benign
29693 P47989 (XDH) P S 555 rs45577338 Benign
29694 P47989 (XDH) D A 584 rs45491693 Benign
29695 P47989 (XDH) R Q 607 rs45442092 Benign
29696 P47989 (XDH) K N 617 rs45442398 Benign
29697 P47989 (XDH) T I 623 rs45448694 Benign
29698 P47989 (XDH) I V 646 rs17323225 Benign
29699 P47989 (XDH) I V 703 rs17011368 Benign
29700 P47989 (XDH) T M 910 rs669884 Benign
29701 P47989 (XDH) V L 1091 rs45619033 Benign
29702 P47989 (XDH) N T 1109 rs45547640 Benign
29703 P47989 (XDH) P R 1150 rs1042036 Benign
29704 P47989 (XDH) R C 1176 rs45624433 Benign
29705 P47989 (XDH) R W 1296 rs45564939 Benign
29706 P48023 (FASLG) Y S 189 rs12079514 Benign
29707 P48023 (FASLG) C S 202 - Disease: Autoimmune lymphoprolif erative syndrome 1B (ALPS1B) [MIM:601859]
29708 P48029 (SLC6A8) K R 4 rs1190261367 Benign
29709 P48029 (SLC6A8) G R 26 rs1233444890 Benign
29710 P48029 (SLC6A8) Y H 80 - Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29711 P48029 (SLC6A8) G R 87 rs122453115 Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29712 P48029 (SLC6A8) G V 132 rs122453117 Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29713 P48029 (SLC6A8) T S 164 rs642454 Benign
29714 P48029 (SLC6A8) R H 186 rs372601430 Benign
29715 P48029 (SLC6A8) V M 270 rs146985734 Benign
29716 P48029 (SLC6A8) K Q 294 rs376937460 Benign
29717 P48029 (SLC6A8) F L 314 rs144678921 Benign
29718 P48029 (SLC6A8) A T 318 rs373953317 Benign
29719 P48029 (SLC6A8) C W 337 rs122453116 Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29720 P48029 (SLC6A8) G R 381 rs122453114 Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29721 P48029 (SLC6A8) G C 383 - Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29722 P48029 (SLC6A8) P L 390 - Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29723 P48029 (SLC6A8) R W 391 rs1557045267 Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29724 P48029 (SLC6A8) A D 448 - Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29725 P48029 (SLC6A8) C W 491 rs122453118 Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29726 P48029 (SLC6A8) V I 539 rs782354054 Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29727 P48029 (SLC6A8) T S 550 rs199635059 Benign
29728 P48029 (SLC6A8) P L 554 rs397515559 Disease: Cerebral creatine deficiency syndrome 1 (CCDS1) [MIM:300352]
29729 P48029 (SLC6A8) M V 560 rs145438966 Benign
29730 P48029 (SLC6A8) F L 564 rs201044530 Benign
29731 P48029 (SLC6A8) A T 611 rs146949376 Benign
29732 P48029 (SLC6A8) E K 624 rs368555229 Benign
29733 P48029 (SLC6A8) V I 629 rs781899045 Benign
29734 P48039 (MTNR1A) R W 54 rs1800885 Benign
29735 P48039 (MTNR1A) A V 157 rs1800884 Benign
29736 P48039 (MTNR1A) I T 212 rs7654853 Benign
29737 P48047 (ATP5PO) K R 98 rs4842 Benign
29738 P48048 (KCNJ1) R W 6 rs34191956 Benign
29739 P48048 (KCNJ1) V E 72 - Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29740 P48048 (KCNJ1) D Y 74 - Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29741 P48048 (KCNJ1) W C 99 rs1213764655 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29742 P48048 (KCNJ1) D H 108 rs104894250 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29743 P48048 (KCNJ1) P L 110 rs373745258 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29744 P48048 (KCNJ1) V E 122 rs766131330 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29745 P48048 (KCNJ1) N K 124 rs104894251 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29746 P48048 (KCNJ1) G E 167 rs104894254 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29747 P48048 (KCNJ1) A T 198 rs104894253 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29748 P48048 (KCNJ1) A V 214 rs104894246 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29749 P48048 (KCNJ1) S R 219 rs104894245 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29750 P48048 (KCNJ1) V G 315 rs753949204 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29751 P48048 (KCNJ1) M T 357 rs59172778 Disease: Bartter syndrome 2, antenatal (BARTS2) [MIM:241200]
29752 P48051 (KCNJ6) G S 154 rs786204795 Disease: Keppen- Lubinsky syndrome (KPLBS) [MIM:614098]
29753 P48052 (CPA2) E G 82 rs17850135 Benign
29754 P48058 (GRIA4) T S 639 rs1555050158 Disease: Neurodevelop mental disorder with or without seizures and gait abnormalitie s (NEDSGA) [MIM:617864]
29755 P48058 (GRIA4) N D 641 rs1555050165 Disease: Neurodevelop mental disorder with or without seizures and gait abnormalitie s (NEDSGA) [MIM:617864]
29756 P48058 (GRIA4) A G 643 rs1555050171 Disease: Neurodevelop mental disorder with or without seizures and gait abnormalitie s (NEDSGA) [MIM:617864]
29757 P48058 (GRIA4) A V 644 rs1555050174 Disease: Neurodevelop mental disorder with or without seizures and gait abnormalitie s (NEDSGA) [MIM:617864]
29758 P48060 (GLIPR1) D E 163 rs28932170 Benign
29759 P48060 (GLIPR1) R Q 211 rs3736392 Benign
29760 P48065 (SLC6A12) C R 10 rs557881 Benign
29761 P48067 (SLC6A9) S G 407 rs1057519313 Disease: Glycine encephalopat hy with normal serum glycine (GCENSG) [MIM:617301]
29762 P48145 (NPBWR1) Y F 135 rs33977775 Benign
29763 P48145 (NPBWR1) R C 319 rs36068168 Benign
29764 P48146 (NPBWR2) Q R 206 rs4809401 Benign
29765 P48147 (PREP) L V 351 rs12192054 Benign
29766 P48147 (PREP) V I 706 rs1051484 Benign
29767 P48165 (GJA8) R T 23 rs80358203 Disease: Cataract 1, multiple types (CTRCT1) [MIM:116200]
29768 P48165 (GJA8) V E 44 rs80358204 Disease: Cataract 1, multiple types (CTRCT1) [MIM:116200]
29769 P48165 (GJA8) D N 47 rs121434643 Disease: Cataract 1, multiple types (CTRCT1) [MIM:116200]
29770 P48165 (GJA8) E K 48 rs80358201 Disease: Cataract 1, multiple types (CTRCT1) [MIM:116200]
29771 P48165 (GJA8) V G 64 - Disease: Cataract 1, multiple types (CTRCT1) [MIM:116200]
29772 P48165 (GJA8) D G 67 - Disease: Cataract 1, multiple types (CTRCT1) [MIM:116200]
29773 P48165 (GJA8) R C 76 - Disease: Cataract 1, multiple types (CTRCT1) [MIM:116200]
29774 P48165 (GJA8) P S 88 rs80358200 Disease: Cataract 1, multiple types (CTRCT1) [MIM:116200]
29775 P48165 (GJA8) R Q 198 rs80358205 Disease: Cataract 1, multiple types (CTRCT1) [MIM:116200]
29776 P48165 (GJA8) I M 247 rs80358202 Benign
29777 P48167 (GLRB) M R 199 rs398122856 Disease: Hyperekplexi a 2 (HKPX2) [MIM:614619]
29778 P48167 (GLRB) G D 251 rs121909749 Disease: Hyperekplexi a 2 (HKPX2) [MIM:614619]
29779 P48167 (GLRB) L R 307 - Disease: Hyperekplexi a 2 (HKPX2) [MIM:614619]
29780 P48167 (GLRB) W C 332 - Disease: Hyperekplexi a 2 (HKPX2) [MIM:614619]
29781 P48169 (GABRA4) A T 19 rs16859837 Benign
29782 P48169 (GABRA4) L M 26 rs2229940 Benign
29783 P48200 (IREB2) I T 580 rs2230940 Benign
29784 P48201 (ATP5MC3) G E 93 rs1802622 Benign
29785 P48304 (REG1B) R H 109 rs7586984 Benign
29786 P48307 (TFPI2) V A 102 rs1804202 Benign
29787 P48307 (TFPI2) R Q 231 rs12669450 Benign
29788 P48357 (LEPR) K R 109 rs1137100 Benign
29789 P48357 (LEPR) D G 124 rs35573508 Benign
29790 P48357 (LEPR) K R 204 rs146442768 Benign
29791 P48357 (LEPR) Q R 223 rs1137101 Benign
29792 P48357 (LEPR) I V 503 rs13306526 Benign
29793 P48357 (LEPR) K N 656 rs1805094 Benign
29794 P48357 (LEPR) S T 675 rs373154589 Benign
29795 P48357 (LEPR) T M 699 rs34499590 Benign
29796 P48378 (RFX2) A T 86 rs2288846 Benign
29797 P48378 (RFX2) R Q 610 rs17852566 Benign
29798 P48382 (RFX5) R Q 149 rs137853099 Disease: Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
29799 P48382 (RFX5) R Q 197 rs2233851 Benign
29800 P48382 (RFX5) P R 409 rs2233854 Benign
29801 P48382 (RFX5) P S 499 rs2233855 Benign
29802 P48426 (PIP4K2A) L I 7 rs11813789 Benign
29803 P48426 (PIP4K2A) N S 251 rs2230469 Benign
29804 P48436 (SOX9) A E 76 rs137853128 Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29805 P48436 (SOX9) P L 108 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29806 P48436 (SOX9) F L 112 rs1407667250 Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29807 P48436 (SOX9) F S 112 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29808 P48436 (SOX9) M T 113 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29809 P48436 (SOX9) M V 113 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29810 P48436 (SOX9) A V 119 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29811 P48436 (SOX9) W R 143 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29812 P48436 (SOX9) R P 152 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29813 P48436 (SOX9) F L 154 rs137853129 Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29814 P48436 (SOX9) A T 158 rs137853130 Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29815 P48436 (SOX9) H Q 165 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29816 P48436 (SOX9) H Y 165 rs28940282 Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29817 P48436 (SOX9) H P 169 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29818 P48436 (SOX9) H Q 169 rs2229989 Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29819 P48436 (SOX9) P L 170 rs1131691554 Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29820 P48436 (SOX9) P R 170 - Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29821 P48436 (SOX9) K E 173 rs104894647 Disease: Campomelic dysplasia (CMD1) [MIM:114290]
29822 P48444 (ARCN1) F L 186 rs682327 Benign
29823 P48444 (ARCN1) K N 309 rs1063124 Benign
29824 P48448 (ALDH3B2) A T 50 rs3741178 Benign
29825 P48448 (ALDH3B2) S N 52 rs1551888 Benign
29826 P48448 (ALDH3B2) H R 203 rs6591270 Benign
29827 P48448 (ALDH3B2) S G 220 rs2447571 Benign
29828 P48448 (ALDH3B2) R W 276 rs17856219 Benign
29829 P48448 (ALDH3B2) S R 302 rs4646826 Benign
29830 P48448 (ALDH3B2) H R 361 rs1551886 Benign
29831 P48449 (LSS) L V 102 - Disease: Hypotrichosi s 14 (HYPT14) [MIM:618275]
29832 P48449 (LSS) R Q 175 rs2839158 Benign
29833 P48449 (LSS) N Y 209 rs754230211 Disease: Hypotrichosi s 14 (HYPT14) [MIM:618275]
29834 P48449 (LSS) L P 248 rs1260995701 Disease: Hypotrichosi s 14 (HYPT14) [MIM:618275]
29835 P48449 (LSS) H R 310 rs34115287 Benign
29836 P48449 (LSS) W R 581 rs864622780 Disease: Cataract 44 (CTRCT44) [MIM:616509]
29837 P48449 (LSS) G S 588 rs561449819 Disease: Cataract 44 (CTRCT44) [MIM:616509]
29838 P48449 (LSS) R W 614 rs35785446 Benign
29839 P48449 (LSS) L V 642 rs2254524 Benign
29840 P48449 (LSS) P L 688 rs17293705 Benign
29841 P48454 (PPP3CC) A V 501 rs28764007 Benign
29842 P48506 (GCLC) L S 55 rs2066512 Benign
29843 P48506 (GCLC) R C 127 rs760031222 Disease: Hemolytic anemia due to gamma-glutam ylcysteine synthetase deficiency (HAGGSD) [MIM:230450]
29844 P48506 (GCLC) P L 158 - Disease: Hemolytic anemia due to gamma-glutam ylcysteine synthetase deficiency (HAGGSD) [MIM:230450]
29845 P48506 (GCLC) H L 370 rs121907946 Disease: Hemolytic anemia due to gamma-glutam ylcysteine synthetase deficiency (HAGGSD) [MIM:230450]
29846 P48506 (GCLC) P S 462 rs17883718 Benign
29847 P48507 (GCLM) I M 209 rs17880087 Benign
29848 P48509 (CD151) T M 120 rs34215390 Benign
29849 P48509 (CD151) K R 132 - Benign
29850 P48509 (CD151) P S 137 rs1431926999 Benign
29851 P48509 (CD151) R H 178 rs779114765 Benign
29852 P48544 (KCNJ5) R H 39 rs560269341 Benign
29853 P48544 (KCNJ5) G E 151 rs587777437 Disease: Hyperaldoste ronism, familial, 3 (HALD3) [MIM:613677]
29854 P48544 (KCNJ5) G R 151 rs386352319 Disease: Hyperaldoste ronism, familial, 3 (HALD3) [MIM:613677]
29855 P48544 (KCNJ5) Y C 152 - Disease: Hyperaldoste ronism, familial, 3 (HALD3) [MIM:613677]
29856 P48544 (KCNJ5) I S 157 rs587777438 Disease: Hyperaldoste ronism, familial, 3 (HALD3) [MIM:613677]
29857 P48544 (KCNJ5) T A 158 rs387906778 Disease: Hyperaldoste ronism, familial, 3 (HALD3) [MIM:613677]
29858 P48544 (KCNJ5) L R 168 rs386352318 Benign
29859 P48544 (KCNJ5) M I 210 rs138295501 Benign
29860 P48544 (KCNJ5) Q E 282 rs7102584 Benign
29861 P48544 (KCNJ5) Y N 348 - Disease: -
29862 P48544 (KCNJ5) G R 387 rs199830292 Disease: Long QT syndrome 13 (LQT13) [MIM:613485]
29863 P48546 (GIPR) R W 136 rs13306402 Benign
29864 P48546 (GIPR) A V 207 rs1800436 Benign
29865 P48546 (GIPR) L V 262 rs5392 Benign
29866 P48546 (GIPR) E Q 354 rs1800437 Benign
29867 P48547 (KCNC1) R H 320 rs727502818 Disease: Epilepsy, progressive myoclonic 7 (EPM7) [MIM:616187]
29868 P48549 (KCNJ3) K R 40 rs16838016 Benign
29869 P48551 (IFNAR2) F S 8 rs2229207 Benign
29870 P48551 (IFNAR2) F V 10 rs1051393 Benign
29871 P48551 (IFNAR2) I V 196 rs17860223 Benign
29872 P48552 (NRIP1) V I 37 rs9941840 Benign
29873 P48552 (NRIP1) H R 221 rs139263261 Benign
29874 P48552 (NRIP1) Y F 315 rs2228507 Benign
29875 P48552 (NRIP1) I V 441 rs150468995 Benign
29876 P48552 (NRIP1) R G 448 rs2229742 Benign
29877 P48552 (NRIP1) N S 567 rs9975169 Benign
29878 P48552 (NRIP1) S L 803 rs61750208 Benign
29879 P48552 (NRIP1) V F 1079 rs140803495 Benign
29880 P48553 (TRAPPC10) V E 257 - Benign
29881 P48553 (TRAPPC10) I M 633 rs915877 Benign
29882 P48553 (TRAPPC10) V M 726 rs2071152 Benign
29883 P48595 (SERPINB10) S A 3 rs17072097 Benign
29884 P48595 (SERPINB10) I M 41 rs8097425 Benign
29885 P48595 (SERPINB10) I T 99 rs724558 Benign
29886 P48595 (SERPINB10) G D 135 rs17072146 Benign
29887 P48595 (SERPINB10) P S 140 rs9967382 Benign
29888 P48595 (SERPINB10) R C 246 rs963075 Benign
29889 P48595 (SERPINB10) D N 360 rs35453062 Benign
29890 P48634 (PRRC2A) P R 57 rs1062968 Benign
29891 P48634 (PRRC2A) D V 82 rs6921213 Benign
29892 P48634 (PRRC2A) P L 106 rs2280801 Benign
29893 P48634 (PRRC2A) R C 477 rs17857493 Benign
29894 P48634 (PRRC2A) T K 544 rs1046080 Benign
29895 P48634 (PRRC2A) Q K 694 rs2844469 Benign
29896 P48634 (PRRC2A) D E 742 rs1046081 Benign
29897 P48634 (PRRC2A) R C 804 rs11538262 Benign
29898 P48634 (PRRC2A) G A 1285 rs2736158 Benign
29899 P48634 (PRRC2A) S N 1407 rs35464047 Benign
29900 P48634 (PRRC2A) G A 1415 rs2857703 Benign
29901 P48634 (PRRC2A) L P 1503 rs2272593 Benign
29902 P48634 (PRRC2A) G D 1544 rs34175432 Benign
29903 P48634 (PRRC2A) R Q 1563 rs11538263 Benign
29904 P48634 (PRRC2A) R H 1740 rs1046089 Benign
29905 P48634 (PRRC2A) G A 1744 rs2844491 Benign
29906 P48634 (PRRC2A) V M 1774 rs11538264 Benign
29907 P48634 (PRRC2A) V M 1775 rs11538264 Benign
29908 P48634 (PRRC2A) L V 1895 rs3132453 Benign
29909 P48634 (PRRC2A) P S 2006 rs10885 Benign
29910 P48634 (PRRC2A) R W 2075 rs34137317 Benign
29911 P48634 (PRRC2A) P L 2130 rs1046756 Benign
29912 P48637 (GSS) A D 26 rs759253242 Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29913 P48637 (GSS) L P 188 - Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29914 P48637 (GSS) D A 219 rs28938472 Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29915 P48637 (GSS) D G 219 rs28938472 Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29916 P48637 (GSS) R Q 236 rs34239729 Benign
29917 P48637 (GSS) L R 254 - Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29918 P48637 (GSS) R W 267 rs121909308 Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29919 P48637 (GSS) Y C 270 rs1325986563 Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29920 P48637 (GSS) Y H 270 - Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29921 P48637 (GSS) R C 283 rs121909309 Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29922 P48637 (GSS) L Q 286 rs1296000099 Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29923 P48637 (GSS) L P 301 - Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29924 P48637 (GSS) R C 330 rs148640446 Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29925 P48637 (GSS) K E 437 rs34852238 Benign
29926 P48637 (GSS) G V 464 - Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29927 P48637 (GSS) D E 469 rs1419704426 Disease: Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
29928 P48643 (CCT5) E V 146 rs11557652 Benign
29929 P48643 (CCT5) H R 147 rs118203986 Disease: Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP) [MIM:256840]
29930 P48645 (NMU) E G 79 rs35892915 Benign
29931 P48645 (NMU) F L 148 rs12108463 Benign
29932 P48651 (PTDSS1) L P 265 rs587777090 Disease: Lenz- Majewski hyperostotic dwarfism (LMHD) [MIM:151050]
29933 P48651 (PTDSS1) P S 269 rs587777089 Disease: Lenz- Majewski hyperostotic dwarfism (LMHD) [MIM:151050]
29934 P48651 (PTDSS1) Q R 353 rs587777088 Disease: Lenz- Majewski hyperostotic dwarfism (LMHD) [MIM:151050]
29935 P48651 (PTDSS1) T N 423 rs7835798 Benign
29936 P48668 (KRT6C) R Q 182 rs11608915 Benign
29937 P48668 (KRT6C) S N 227 rs17099602 Benign
29938 P48668 (KRT6C) E K 472 rs587777292 Disease: Palmoplantar keratoderma, non-epidermo lytic, focal or diffuse (PPKNEFD) [MIM:615735]
29939 P48668 (KRT6C) V I 481 rs412533 Benign
29940 P48681 (NES) V A 130 rs4278369 Benign
29941 P48681 (NES) V I 815 rs951781 Benign
29942 P48681 (NES) S N 1016 rs2365718 Benign
29943 P48681 (NES) P L 1101 rs2886443 Benign
29944 P48681 (NES) R S 1133 rs17393797 Benign
29945 P48681 (NES) P L 1275 rs3748570 Benign
29946 P48728 (AMT) H R 42 rs121964983 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29947 P48728 (AMT) G R 47 rs121964982 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29948 P48728 (AMT) R W 94 rs1126422 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29949 P48728 (AMT) N I 145 rs386833682 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29950 P48728 (AMT) E K 211 rs116192290 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29951 P48728 (AMT) R C 222 rs781466698 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29952 P48728 (AMT) R C 265 rs779483959 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29953 P48728 (AMT) G D 269 rs121964981 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29954 P48728 (AMT) D H 276 rs121964984 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29955 P48728 (AMT) R C 296 rs1056820947 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29956 P48728 (AMT) R H 320 rs121964985 Disease: Non-ketotic hyperglycine mia (NKH) [MIM:605899]
29957 P48730 (CSNK1D) T A 44 rs104894561 Disease: Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224]
29958 P48730 (CSNK1D) H R 46 rs397514693 Disease: Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224]
29959 P48730 (CSNK1D) P A 401 rs56124628 Benign
29960 P48735 (IDH2) R G 140 rs267606870 Disease: D-2-hydroxyg lutaric aciduria 2 (D2HGA2) [MIM:613657]
29961 P48735 (IDH2) R Q 140 rs121913502 Disease: D-2-hydroxyg lutaric aciduria 2 (D2HGA2) [MIM:613657]
29962 P48735 (IDH2) P L 158 - Disease: Glioma (GLM) [MIM:137800]
29963 P48735 (IDH2) P S 162 - Disease: Glioma (GLM) [MIM:137800]
29964 P48735 (IDH2) R S 172 rs1057519736 Benign
29965 P48735 (IDH2) R W 172 rs1057519906 Benign
29966 P48735 (IDH2) R G 172 rs1057519906 Disease: Glioma (GLM) [MIM:137800]
29967 P48735 (IDH2) R K 172 rs121913503 Disease: Glioma (GLM) [MIM:137800]
29968 P48735 (IDH2) R M 172 rs121913503 Disease: Glioma (GLM) [MIM:137800]
29969 P48740 (MASP1) T I 21 rs1062049 Benign
29970 P48740 (MASP1) V A 568 rs13322090 Benign
29971 P48740 (MASP1) G R 679 rs3774266 Benign
29972 P48745 (CCN3) R Q 42 rs2279112 Benign
29973 P48745 (CCN3) R H 233 rs11538929 Benign
29974 P48751 (SLC4A3) H P 157 rs597306 Benign
29975 P48751 (SLC4A3) S L 226 rs36068948 Benign
29976 P48751 (SLC4A3) D A 867 rs635311 Benign
29977 P48764 (SLC9A3) A T 269 rs869312807 Disease: Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868]
29978 P48764 (SLC9A3) A V 311 rs869312806 Disease: Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868]
29979 P48764 (SLC9A3) R Q 382 rs766076524 Disease: Diarrhea 8, secretory sodium, congenital (DIAR8) [MIM:616868]
29980 P48764 (SLC9A3) C R 799 rs2247114 Benign
29981 P48775 (TDO2) M I 108 rs1553957997 Disease: Hypertryptop hanemia (HYPTRP) [MIM:600627]
29982 P48788 (TNNI2) R Q 174 rs104894311 Disease: Arthrogrypos is, distal, 2B1 (DA2B1) [MIM:601680]
29983 P48960 (ADGRE5) R Q 367 rs2230748 Benign
29984 P49005 (POLD2) N S 303 rs3087366 Benign
29985 P49019 (HCAR3) T P 173 rs1798192 Benign
29986 P49019 (HCAR3) F L 198 rs17884481 Benign
29987 P49019 (HCAR3) H R 253 rs118091133 Benign
29988 P49019 (HCAR3) I M 317 rs116821988 Benign
29989 P49019 (HCAR3) I M 346 rs1696351 Benign
29990 P49019 (HCAR3) G S 350 rs201835480 Benign
29991 P49023 (PXN) S G 73 rs4767884 Benign
29992 P49069 (CAMLG) V I 78 rs12657663 Benign
29993 P49069 (CAMLG) G S 100 rs11552197 Benign
29994 P49137 (MAPKAPK2) A G 173 rs35671930 Benign
29995 P49137 (MAPKAPK2) A S 361 rs55894011 Benign
29996 P49184 (DNASE1L1) V I 122 rs34952165 Benign
29997 P49189 (ALDH9A1) C S 116 - Benign
29998 P49221 (TGM4) E D 100 rs2271087 Benign
29999 P49221 (TGM4) Y H 244 rs9818345 Benign
30000 P49221 (TGM4) S T 249 rs937838 Benign

Reference

  • Jaie Woodard, Chengxin Zhang, and Yang Zhang (2020) ADDRESS: A database of human disease-associated variants incorporating protein structure, binding and folding stabilities.

    • [an error occurred while processing this directive]

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