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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]
30001 P49221 (TGM4) E K 313 rs1995641 Benign
30002 P49221 (TGM4) R C 372 rs3749195 Benign
30003 P49221 (TGM4) R H 372 rs13326552 Benign
30004 P49221 (TGM4) I V 376 rs17077022 Benign
30005 P49221 (TGM4) V I 409 rs9876921 Benign
30006 P49221 (TGM4) E Q 437 rs1395388 Benign
30007 P49223 (SPINT3) L S 77 rs6032259 Benign
30008 P49238 (CX3CR1) E D 13 rs41535248 Benign
30009 P49238 (CX3CR1) T A 57 rs199811198 Benign
30010 P49238 (CX3CR1) V I 122 rs143001773 Benign
30011 P49238 (CX3CR1) V I 147 rs3732380 Benign
30012 P49238 (CX3CR1) V I 249 rs3732379 Benign
30013 P49238 (CX3CR1) T M 280 rs3732378 Benign
30014 P49247 (RPIA) A V 135 rs121918591 Disease: Ribose 5-phosphate isomerase deficiency (RPID) [MIM:608611]
30015 P49257 (LMAN1) R Q 14 rs1043302 Benign
30016 P49257 (LMAN1) V A 39 rs33926449 Benign
30017 P49257 (LMAN1) W S 67 - Disease: Factor V and factor VIII combined deficiency 1 (F5F8D1) [MIM:227300]
30018 P49257 (LMAN1) I T 355 rs3737392 Benign
30019 P49257 (LMAN1) M L 410 rs2298711 Benign
30020 P49279 (SLC11A1) Q R 30 rs751872662 Benign
30021 P49279 (SLC11A1) A V 318 rs201565523 Benign
30022 P49279 (SLC11A1) D N 543 rs17235409 Benign
30023 P49281 (SLC11A2) G V 212 rs121918367 Disease: Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]
30024 P49281 (SLC11A2) E D 399 rs121918365 Disease: Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]
30025 P49281 (SLC11A2) R C 416 rs121918366 Disease: Anemia, hypochromic microcytic, with iron overload 1 (AHMIO1) [MIM:206100]
30026 P49281 (SLC11A2) L I 435 rs144863268 Benign
30027 P49286 (MTNR1B) G E 24 rs8192552 Benign
30028 P49286 (MTNR1B) L F 66 rs370338802 Benign
30029 P49286 (MTNR1B) R H 231 rs8192553 Benign
30030 P49321 (NASP) V G 620 rs34618000 Benign
30031 P49326 (FMO5) P A 400 rs28381218 Benign
30032 P49326 (FMO5) P L 457 rs72549314 Benign
30033 P49326 (FMO5) R S 506 rs28381223 Benign
30034 P49327 (FASN) R H 477 rs113931914 Benign
30035 P49327 (FASN) V I 1483 rs2228305 Benign
30036 P49327 (FASN) R H 1694 rs561903908 Benign
30037 P49327 (FASN) I V 1888 rs2228307 Benign
30038 P49335 (POU3F4) G A 237 rs5921979 Benign
30039 P49335 (POU3F4) A V 312 rs387906502 Disease: Deafness, X-linked, 2 (DFNX2) [MIM:304400]
30040 P49335 (POU3F4) L W 317 rs104894921 Disease: Deafness, X-linked, 2 (DFNX2) [MIM:304400]
30041 P49335 (POU3F4) R G 323 rs104894924 Disease: Deafness, X-linked, 2 (DFNX2) [MIM:304400]
30042 P49335 (POU3F4) R S 330 rs104894923 Disease: Deafness, X-linked, 2 (DFNX2) [MIM:304400]
30043 P49335 (POU3F4) K E 334 rs104894922 Disease: Deafness, X-linked, 2 (DFNX2) [MIM:304400]
30044 P49366 (DHPS) N S 173 - Disease: Neurodevelop mental disorder with seizures and speech and walking impairment (NEDSSWI) [MIM:618480]
30045 P49366 (DHPS) E D 174 rs10425108 Benign
30046 P49368 (CCT3) L F 391 rs2230194 Benign
30047 P49411 (TUFM) R Q 336 - Disease: Combined oxidative phosphorylat ion deficiency 4 (COXPD4) [MIM:610678]
30048 P49418 (AMPH) K E 218 rs35166354 Benign
30049 P49418 (AMPH) M I 376 rs17171345 Benign
30050 P49418 (AMPH) K T 496 rs35024632 Benign
30051 P49419 (ALDH7A1) A V 199 rs121912709 Disease: Pyridoxine- dependent epilepsy (PDE) [MIM:266100]
30052 P49419 (ALDH7A1) G V 202 - Disease: Pyridoxine- dependent epilepsy (PDE) [MIM:266100]
30053 P49419 (ALDH7A1) G E 291 - Disease: Pyridoxine- dependent epilepsy (PDE) [MIM:266100]
30054 P49419 (ALDH7A1) N I 301 rs121912711 Disease: Pyridoxine- dependent epilepsy (PDE) [MIM:266100]
30055 P49419 (ALDH7A1) R Q 335 rs754449549 Disease: Pyridoxine- dependent epilepsy (PDE) [MIM:266100]
30056 P49419 (ALDH7A1) V G 395 - Disease: Pyridoxine- dependent epilepsy (PDE) [MIM:266100]
30057 P49419 (ALDH7A1) T A 412 rs2306618 Benign
30058 P49419 (ALDH7A1) E Q 427 rs121912707 Disease: Pyridoxine- dependent epilepsy (PDE) [MIM:266100]
30059 P49419 (ALDH7A1) K Q 439 rs12514417 Benign
30060 P49419 (ALDH7A1) S N 458 - Disease: Pyridoxine- dependent epilepsy (PDE) [MIM:266100]
30061 P49427 (CDC34) D H 227 rs16990650 Benign
30062 P49441 (INPP1) T A 228 rs7592352 Benign
30063 P49441 (INPP1) V M 355 rs35616200 Benign
30064 P49447 (CYB561) G R 88 rs772361572 Disease: Orthostatic hypotension 2 (ORTHYP2) [MIM:618182]
30065 P49448 (GLUD2) S A 498 rs9697983 Benign
30066 P49454 (CENPF) Q L 250 rs1050065 Benign
30067 P49454 (CENPF) D G 272 rs1050066 Benign
30068 P49454 (CENPF) R C 300 rs17023281 Benign
30069 P49454 (CENPF) H Q 494 rs2070065 Benign
30070 P49454 (CENPF) M V 701 rs3795524 Benign
30071 P49454 (CENPF) Q E 754 rs3795523 Benign
30072 P49454 (CENPF) R H 815 rs3795522 Benign
30073 P49454 (CENPF) Y D 1018 rs3795519 Benign
30074 P49454 (CENPF) G R 1033 rs3795518 Benign
30075 P49454 (CENPF) T I 1105 rs12067133 Benign
30076 P49454 (CENPF) L S 1412 rs3795517 Benign
30077 P49454 (CENPF) D N 1768 rs3748692 Benign
30078 P49454 (CENPF) E A 1915 rs3790647 Benign
30079 P49454 (CENPF) N K 3106 rs7289 Benign
30080 P49459 (UBE2A) R Q 11 rs387906728 Disease: Mental retardation, X-linked, syndromic, Nascimento- type (MRXSN) [MIM:300860]
30081 P49459 (UBE2A) G R 23 rs1556235551 Disease: Mental retardation, X-linked, syndromic, Nascimento- type (MRXSN) [MIM:300860]
30082 P49585 (PCYT1A) A T 99 rs587777191 Disease: Spondylometa physeal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
30083 P49585 (PCYT1A) A V 99 rs587777189 Disease: Spondylometa physeal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
30084 P49585 (PCYT1A) E K 129 rs587777194 Disease: Spondylometa physeal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
30085 P49585 (PCYT1A) P A 150 rs587777190 Disease: Spondylometa physeal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
30086 P49585 (PCYT1A) F L 191 rs587777195 Disease: Spondylometa physeal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
30087 P49585 (PCYT1A) R S 223 rs540053239 Disease: Spondylometa physeal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940]
30088 P49588 (AARS1) N Y 71 rs387906792 Disease: Charcot- Marie-Tooth disease 2N (CMT2N) [MIM:613287]
30089 P49588 (AARS1) K T 81 rs786205157 Disease: Epileptic encephalopat hy, early infantile, 29 (EIEE29) [MIM:616339]
30090 P49588 (AARS1) G D 275 rs11537667 Benign
30091 P49588 (AARS1) R H 329 rs267606621 Disease: Charcot- Marie-Tooth disease 2N (CMT2N) [MIM:613287]
30092 P49588 (AARS1) R G 751 rs143370729 Disease: Epileptic encephalopat hy, early infantile, 29 (EIEE29) [MIM:616339]
30093 P49588 (AARS1) G D 913 rs369774476 Disease: Epileptic encephalopat hy, early infantile, 29 (EIEE29) [MIM:616339]
30094 P49590 (HARS2) L V 200 rs397515410 Disease: Perrault syndrome 2 (PRLTS2) [MIM:614926]
30095 P49590 (HARS2) V L 368 rs376177973 Disease: Perrault syndrome 2 (PRLTS2) [MIM:614926]
30096 P49591 (SARS1) D N 172 rs1553178049 Disease: Neurodevelop mental disorder with microcephaly , ataxia, and seizures (NEDMAS) [MIM:617709]
30097 P49593 (PPM1F) R C 132 rs9610645 Benign
30098 P49593 (PPM1F) L R 420 rs2070507 Benign
30099 P49619 (DGKG) T S 142 rs1004588 Benign
30100 P49619 (DGKG) R K 316 rs2193587 Benign
30101 P49619 (DGKG) R W 370 rs3213770 Benign
30102 P49638 (TTPA) R W 59 rs397515522 Disease: Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
30103 P49638 (TTPA) H Q 101 rs121917849 Disease: Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
30104 P49638 (TTPA) A T 120 rs143010236 Disease: Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
30105 P49638 (TTPA) E K 141 rs397515524 Disease: Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
30106 P49638 (TTPA) T S 172 rs34647756 Benign
30107 P49638 (TTPA) R H 192 rs121917850 Disease: Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
30108 P49638 (TTPA) R W 221 rs35916840 Disease: Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
30109 P49638 (TTPA) G R 246 rs397515526 Disease: Ataxia with isolated vitamin E deficiency (AVED) [MIM:277460]
30110 P49639 (HOXA1) H R 73 rs10951154 Benign
30111 P49639 (HOXA1) E A 189 rs17500494 Benign
30112 P49641 (MAN2A2) Q R 412 rs2106673 Benign
30113 P49641 (MAN2A2) S F 665 rs1266494 Benign
30114 P49642 (PRIM1) D A 5 rs2277339 Benign
30115 P49643 (PRIM2) E K 181 rs5011403 Benign
30116 P49643 (PRIM2) D G 204 rs6913546 Benign
30117 P49643 (PRIM2) G S 259 rs927192 Benign
30118 P49643 (PRIM2) Q L 265 rs3763183 Benign
30119 P49643 (PRIM2) C Y 287 rs9476080 Benign
30120 P49643 (PRIM2) Q H 446 rs4294007 Benign
30121 P49643 (PRIM2) P S 465 rs4294008 Benign
30122 P49662 (CASP4) D N 47 rs56226603 Benign
30123 P49662 (CASP4) R C 134 rs181090259 Benign
30124 P49662 (CASP4) E D 284 rs55901059 Benign
30125 P49674 (CSNK1E) H R 413 rs35665927 Benign
30126 P49675 (STAR) R W 121 rs34908868 Benign
30127 P49675 (STAR) E G 169 rs1254559989 Disease: Adrenal hyperplasia 1 (AH1) [MIM:201710]
30128 P49675 (STAR) E K 169 rs747169620 Disease: Adrenal hyperplasia 1 (AH1) [MIM:201710]
30129 P49675 (STAR) R L 182 rs104894086 Disease: Adrenal hyperplasia 1 (AH1) [MIM:201710]
30130 P49675 (STAR) A D 203 rs1042854 Benign
30131 P49675 (STAR) R T 217 rs137852689 Disease: Adrenal hyperplasia 1 (AH1) [MIM:201710]
30132 P49675 (STAR) A V 218 rs137852690 Disease: Adrenal hyperplasia 1 (AH1) [MIM:201710]
30133 P49675 (STAR) M T 225 rs1446362214 Disease: Adrenal hyperplasia 1 (AH1) [MIM:201710]
30134 P49675 (STAR) L P 275 rs762245736 Disease: Adrenal hyperplasia 1 (AH1) [MIM:201710]
30135 P49682 (CXCR3) R Q 292 rs139226823 Benign
30136 P49682 (CXCR3) A T 363 rs766348940 Benign
30137 P49683 (PRLHR) I V 283 rs1613448 Benign
30138 P49683 (PRLHR) D G 302 rs8192523 Benign
30139 P49685 (GPR15) P S 37 rs2230344 Benign
30140 P49685 (GPR15) M V 112 rs35320046 Benign
30141 P49703 (ARL4D) T N 91 rs1059968 Benign
30142 P49711 (CTCF) R W 567 rs879255516 Disease: Mental retardation, autosomal dominant 21 (MRD21) [MIM:615502]
30143 P49715 (CEBPA) H L 84 rs28931590 Disease: Leukemia, acute myelogenous (AML) [MIM:601626]
30144 P49716 (CEBPD) R W 248 rs34948549 Benign
30145 P49720 (PSMB3) M L 34 rs4907 Benign
30146 P49736 (MCM2) R C 44 rs375851208 Disease: Deafness, autosomal dominant, 70 (DFNA70) [MIM:616968]
30147 P49736 (MCM2) D E 68 rs3087452 Benign
30148 P49736 (MCM2) L F 135 rs2307314 Benign
30149 P49736 (MCM2) E Q 166 rs1048225 Benign
30150 P49736 (MCM2) A T 396 rs3087450 Benign
30151 P49736 (MCM2) G R 501 rs13087457 Benign
30152 P49736 (MCM2) V M 667 rs2307311 Benign
30153 P49736 (MCM2) A T 727 rs2307313 Benign
30154 P49746 (THBS3) S G 279 rs35154152 Benign
30155 P49747 (COMP) E D 50 - Benign
30156 P49747 (COMP) L W 51 - Benign
30157 P49747 (COMP) A G 109 - Benign
30158 P49747 (COMP) G E 167 rs763887855 Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30159 P49747 (COMP) R G 224 - Benign
30160 P49747 (COMP) P S 234 rs557483957 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30161 P49747 (COMP) P R 276 rs1311845746 Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30162 P49747 (COMP) R P 285 - Benign
30163 P49747 (COMP) D G 290 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30164 P49747 (COMP) D N 290 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30165 P49747 (COMP) S L 298 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30166 P49747 (COMP) G R 299 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30167 P49747 (COMP) A D 311 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30168 P49747 (COMP) D G 317 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30169 P49747 (COMP) D G 326 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30170 P49747 (COMP) D Y 326 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30171 P49747 (COMP) C R 328 rs137852653 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30172 P49747 (COMP) D Y 342 rs137852652 Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30173 P49747 (COMP) C F 348 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30174 P49747 (COMP) C R 348 rs137852656 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30175 P49747 (COMP) D V 349 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30176 P49747 (COMP) D V 361 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30177 P49747 (COMP) D Y 361 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30178 P49747 (COMP) C S 371 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30179 P49747 (COMP) C Y 371 rs1057521130 Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30180 P49747 (COMP) D N 374 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30181 P49747 (COMP) D N 376 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30182 P49747 (COMP) D V 378 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30183 P49747 (COMP) R C 381 rs3179763 Benign
30184 P49747 (COMP) D N 385 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30185 P49747 (COMP) D Y 385 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30186 P49747 (COMP) C G 387 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30187 P49747 (COMP) C R 387 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30188 P49747 (COMP) D H 397 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30189 P49747 (COMP) G R 404 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30190 P49747 (COMP) D Y 408 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30191 P49747 (COMP) C Y 410 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30192 P49747 (COMP) N K 415 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30193 P49747 (COMP) D A 420 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30194 P49747 (COMP) G E 427 - Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30195 P49747 (COMP) G E 440 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30196 P49747 (COMP) G R 440 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30197 P49747 (COMP) D N 446 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30198 P49747 (COMP) C S 448 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30199 P49747 (COMP) N S 453 rs28936668 Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30200 P49747 (COMP) C Y 468 rs137852651 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30201 P49747 (COMP) D Y 472 rs137852650 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30202 P49747 (COMP) D G 473 rs28936669 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30203 P49747 (COMP) D H 473 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30204 P49747 (COMP) D N 475 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30205 P49747 (COMP) D G 482 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30206 P49747 (COMP) G D 501 rs1555791425 Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30207 P49747 (COMP) D G 507 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30208 P49747 (COMP) D G 511 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30209 P49747 (COMP) D G 515 - Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30210 P49747 (COMP) D N 518 rs1359984033 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30211 P49747 (COMP) N K 523 rs137852654 Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30212 P49747 (COMP) T I 529 rs312262903 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30213 P49747 (COMP) T M 585 rs312262900 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30214 P49747 (COMP) T R 585 rs312262900 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30215 P49747 (COMP) R P 718 rs149551600 Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30216 P49747 (COMP) R W 718 rs28936368 Disease: Multiple epiphyseal dysplasia 1 (EDM1) [MIM:132400]
30217 P49747 (COMP) G D 719 rs137852655 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30218 P49747 (COMP) G S 719 rs312262904 Disease: Pseudoachond roplasia (PSACH) [MIM:177170]
30219 P49747 (COMP) Q R 756 rs61752496 Benign
30220 P49748 (ACADVL) L F 17 rs2230179 Benign
30221 P49748 (ACADVL) G D 43 rs2230178 Benign
30222 P49748 (ACADVL) P L 65 rs28934585 Benign
30223 P49748 (ACADVL) T N 158 - Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30224 P49748 (ACADVL) Q R 159 rs746688190 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30225 P49748 (ACADVL) V M 174 rs369560930 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30226 P49748 (ACADVL) G S 185 rs545215807 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30227 P49748 (ACADVL) A P 213 rs140629318 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30228 P49748 (ACADVL) E K 218 rs1432183079 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30229 P49748 (ACADVL) L R 243 - Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30230 P49748 (ACADVL) K E 247 - Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30231 P49748 (ACADVL) K T 247 - Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30232 P49748 (ACADVL) T M 260 rs113994168 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30233 P49748 (ACADVL) A D 281 - Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30234 P49748 (ACADVL) V A 283 rs113994167 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30235 P49748 (ACADVL) G D 290 rs866464446 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30236 P49748 (ACADVL) G E 294 rs200573371 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30237 P49748 (ACADVL) K N 299 rs774716484 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30238 P49748 (ACADVL) V A 317 rs398123095 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30239 P49748 (ACADVL) M V 352 - Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30240 P49748 (ACADVL) A S 359 rs1051701 Benign
30241 P49748 (ACADVL) R C 366 rs771874163 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30242 P49748 (ACADVL) R H 366 rs112406105 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30243 P49748 (ACADVL) K Q 382 rs118204015 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30244 P49748 (ACADVL) D H 405 - Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30245 P49748 (ACADVL) G D 441 rs2309689 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30246 P49748 (ACADVL) R H 450 rs118204016 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30247 P49748 (ACADVL) R Q 453 rs138058572 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30248 P49748 (ACADVL) D N 454 rs1419606204 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30249 P49748 (ACADVL) R H 456 rs794727112 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30250 P49748 (ACADVL) F L 458 rs118204017 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30251 P49748 (ACADVL) R W 459 rs766742117 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30252 P49748 (ACADVL) G E 463 rs200366828 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30253 P49748 (ACADVL) R Q 469 rs398123083 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30254 P49748 (ACADVL) R W 469 rs113994170 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30255 P49748 (ACADVL) A P 490 rs759775666 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30256 P49748 (ACADVL) L P 502 - Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30257 P49748 (ACADVL) L I 602 - Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30258 P49748 (ACADVL) R W 613 rs118204014 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30259 P49748 (ACADVL) R Q 615 rs148584617 Disease: Acyl-CoA dehydrogenas e very long-chain deficiency (ACADVLD) [MIM:201475]
30260 P49748 (ACADVL) S F 623 rs13383 Benign
30261 P49753 (ACOT2) R S 16 rs11545741 Benign
30262 P49753 (ACOT2) H R 475 rs7494 Benign
30263 P49754 (VPS41) T P 146 rs35693565 Benign
30264 P49754 (VPS41) C R 647 rs11762417 Benign
30265 P49754 (VPS41) R H 843 rs1059508 Benign
30266 P49755 (TMED10) S Y 64 rs4929 Benign
30267 P49755 (TMED10) R G 152 rs17103066 Benign
30268 P49757 (NUMB) V I 387 rs17182272 Benign
30269 P49757 (NUMB) G D 595 rs17781919 Benign
30270 P49759 (CLK1) S F 61 rs55989135 Benign
30271 P49759 (CLK1) N D 99 rs6735666 Benign
30272 P49759 (CLK1) R G 118 rs56135616 Benign
30273 P49759 (CLK1) P S 307 rs35412475 Benign
30274 P49759 (CLK1) M T 440 rs35393352 Benign
30275 P49759 (CLK1) E G 459 rs12709 Benign
30276 P49761 (CLK3) R C 486 - Benign
30277 P49761 (CLK3) Q R 607 rs910378995 Benign
30278 P49761 (CLK3) R W 628 rs920443187 Benign
30279 P49768 (PSEN1) A V 79 rs63749824 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30280 P49768 (PSEN1) V L 82 rs63749967 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30281 P49768 (PSEN1) I T 83 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30282 P49768 (PSEN1) L P 85 rs63750599 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30283 P49768 (PSEN1) V L 89 rs63750815 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30284 P49768 (PSEN1) C S 92 rs63751141 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30285 P49768 (PSEN1) V F 96 rs63750601 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30286 P49768 (PSEN1) F L 105 rs63750321 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30287 P49768 (PSEN1) L P 113 rs63751399 Disease: Frontotempor al dementia (FTD) [MIM:600274]
30288 P49768 (PSEN1) Y C 115 rs63750450 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30289 P49768 (PSEN1) Y H 115 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30290 P49768 (PSEN1) T I 116 rs63750730 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30291 P49768 (PSEN1) T N 116 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30292 P49768 (PSEN1) P L 117 rs63749805 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30293 P49768 (PSEN1) P S 117 rs63750550 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30294 P49768 (PSEN1) E D 120 rs63751272 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30295 P49768 (PSEN1) E K 120 rs63750800 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30296 P49768 (PSEN1) N D 135 rs63750353 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30297 P49768 (PSEN1) M I 139 rs63750522 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30298 P49768 (PSEN1) M K 139 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30299 P49768 (PSEN1) M T 139 rs63751106 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30300 P49768 (PSEN1) M V 139 rs63751037 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30301 P49768 (PSEN1) I F 143 rs63750322 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30302 P49768 (PSEN1) I T 143 rs63750004 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30303 P49768 (PSEN1) M I 146 rs63750391 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30304 P49768 (PSEN1) M L 146 rs63750306 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30305 P49768 (PSEN1) M V 146 rs63750306 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30306 P49768 (PSEN1) T I 147 rs63750907 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30307 P49768 (PSEN1) L V 153 rs63751441 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30308 P49768 (PSEN1) Y N 154 rs63750588 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30309 P49768 (PSEN1) H R 163 rs63750590 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30310 P49768 (PSEN1) H Y 163 rs63749885 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30311 P49768 (PSEN1) W C 165 rs63751484 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30312 P49768 (PSEN1) L P 166 rs63750265 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30313 P49768 (PSEN1) S L 169 rs63751210 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30314 P49768 (PSEN1) S P 169 rs63750418 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30315 P49768 (PSEN1) S F 170 rs63750577 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30316 P49768 (PSEN1) L P 171 rs63750963 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30317 P49768 (PSEN1) L W 173 rs63750299 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30318 P49768 (PSEN1) L M 174 rs63751144 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30319 P49768 (PSEN1) F L 177 rs63749911 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30320 P49768 (PSEN1) E D 184 rs63750311 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30321 P49768 (PSEN1) F L 205 rs1042864 Benign
30322 P49768 (PSEN1) G A 206 rs63750082 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30323 P49768 (PSEN1) G D 206 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30324 P49768 (PSEN1) G S 206 rs63750569 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30325 P49768 (PSEN1) G R 209 rs63749880 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30326 P49768 (PSEN1) G V 209 rs63750053 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30327 P49768 (PSEN1) I L 213 rs63750861 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30328 P49768 (PSEN1) I T 213 rs63751309 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30329 P49768 (PSEN1) H Y 214 rs63751003 Disease: -
30330 P49768 (PSEN1) G R 217 rs267606983 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30331 P49768 (PSEN1) L P 219 rs63750761 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30332 P49768 (PSEN1) I F 229 rs63749970 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30333 P49768 (PSEN1) A T 231 rs63749836 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30334 P49768 (PSEN1) A V 231 rs63750799 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30335 P49768 (PSEN1) M L 233 rs63751287 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30336 P49768 (PSEN1) M T 233 rs63751024 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30337 P49768 (PSEN1) L P 235 rs63749835 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30338 P49768 (PSEN1) L R 235 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30339 P49768 (PSEN1) L V 235 rs63751130 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30340 P49768 (PSEN1) A E 246 rs63750526 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30341 P49768 (PSEN1) L S 250 rs63751163 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30342 P49768 (PSEN1) A V 260 rs63751420 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30343 P49768 (PSEN1) V F 261 rs63750964 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30344 P49768 (PSEN1) L F 262 rs63750248 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30345 P49768 (PSEN1) L V 262 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30346 P49768 (PSEN1) C F 263 rs63751102 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30347 P49768 (PSEN1) C R 263 rs63750543 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30348 P49768 (PSEN1) P L 264 rs63750301 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30349 P49768 (PSEN1) G S 266 rs121917807 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30350 P49768 (PSEN1) P S 267 rs63751229 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30351 P49768 (PSEN1) P T 267 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30352 P49768 (PSEN1) R G 269 rs63751019 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30353 P49768 (PSEN1) R H 269 rs63750900 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30354 P49768 (PSEN1) L V 271 rs63750886 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30355 P49768 (PSEN1) R I 278 rs63749891 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30356 P49768 (PSEN1) R T 278 rs63749891 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30357 P49768 (PSEN1) E A 280 rs63750231 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30358 P49768 (PSEN1) E G 280 rs63750231 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30359 P49768 (PSEN1) L R 282 rs63750050 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30360 P49768 (PSEN1) L V 282 rs63749937 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30361 P49768 (PSEN1) A V 285 rs63751139 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30362 P49768 (PSEN1) L V 286 rs63751235 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30363 P49768 (PSEN1) S C 289 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30364 P49768 (PSEN1) K R 311 rs115865530 Disease: -
30365 P49768 (PSEN1) E G 318 rs17125721 Benign
30366 P49768 (PSEN1) D G 333 rs121917809 Disease: Cardiomyopat hy, dilated 1U (CMD1U) [MIM:613694]
30367 P49768 (PSEN1) G E 378 - Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30368 P49768 (PSEN1) G V 378 rs63750323 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30369 P49768 (PSEN1) L F 381 rs63750687 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30370 P49768 (PSEN1) L V 381 rs63750687 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30371 P49768 (PSEN1) G A 384 rs63750646 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30372 P49768 (PSEN1) S I 390 rs63750883 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30373 P49768 (PSEN1) L V 392 rs63751416 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30374 P49768 (PSEN1) I T 408 rs906454643 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30375 P49768 (PSEN1) C Y 410 rs661 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30376 P49768 (PSEN1) A E 431 rs63750083 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30377 P49768 (PSEN1) L F 435 rs63750001 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30378 P49768 (PSEN1) P Q 436 rs121917808 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30379 P49768 (PSEN1) P S 436 rs63749925 Disease: Alzheimer disease 3 (AD3) [MIM:607822]
30380 P49770 (EIF2B2) V E 85 rs397514648 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
30381 P49770 (EIF2B2) S F 171 rs104894428 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
30382 P49770 (EIF2B2) P S 196 rs113994011 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
30383 P49770 (EIF2B2) G V 200 rs113994012 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
30384 P49770 (EIF2B2) E G 213 rs104894425 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
30385 P49770 (EIF2B2) C Y 268 - Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
30386 P49770 (EIF2B2) K R 273 rs113994016 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
30387 P49770 (EIF2B2) V D 316 rs104894426 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
30388 P49770 (EIF2B2) G V 329 rs113994020 Disease: Leukodystrop hy with vanishing white matter (VWM) [MIM:603896]
30389 P49773 (HINT1) R P 37 rs149782619 Disease: Neuromyotoni a and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
30390 P49773 (HINT1) H R 51 rs397514491 Disease: Neuromyotoni a and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
30391 P49773 (HINT1) C R 84 rs397514489 Disease: Neuromyotoni a and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
30392 P49773 (HINT1) G V 89 rs397514490 Disease: Neuromyotoni a and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
30393 P49773 (HINT1) G D 93 rs397514493 Disease: Neuromyotoni a and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
30394 P49773 (HINT1) H N 112 rs373849532 Disease: Neuromyotoni a and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200]
30395 P49788 (RARRES1) D G 42 rs7621322 Benign
30396 P49788 (RARRES1) D V 158 rs11919919 Benign
30397 P49790 (NUP153) D N 90 rs16879902 Benign
30398 P49790 (NUP153) I V 248 rs2228375 Benign
30399 P49790 (NUP153) V F 381 rs17857419 Benign
30400 P49790 (NUP153) N K 402 rs6906499 Benign
30401 P49790 (NUP153) P L 821 rs6905654 Benign
30402 P49790 (NUP153) A T 827 rs2274136 Benign
30403 P49790 (NUP153) T A 1388 rs2228379 Benign
30404 P49792 (RANBP2) V L 548 rs1057954 Benign
30405 P49792 (RANBP2) E K 580 rs1057956 Benign
30406 P49792 (RANBP2) C Y 581 rs1057957 Benign
30407 P49792 (RANBP2) T M 585 rs121434502 Disease: Encephalopat hy, acute, infection- induced, 3 (IIAE3) [MIM:608033]
30408 P49792 (RANBP2) T I 653 rs121434503 Disease: Encephalopat hy, acute, infection- induced, 3 (IIAE3) [MIM:608033]
30409 P49792 (RANBP2) I V 656 rs121434504 Disease: Encephalopat hy, acute, infection- induced, 3 (IIAE3) [MIM:608033]
30410 P49792 (RANBP2) S G 725 rs17414315 Benign
30411 P49792 (RANBP2) R K 784 rs2912838 Benign
30412 P49792 (RANBP2) P L 1870 rs2889846 Benign
30413 P49792 (RANBP2) P A 1892 rs12770 Benign
30414 P49792 (RANBP2) P R 1892 rs12770 Benign
30415 P49796 (RGS3) R K 129 rs16933949 Benign
30416 P49796 (RGS3) R Q 809 rs41305473 Benign
30417 P49798 (RGS4) A S 195 rs14665 Benign
30418 P49802 (RGS7) M L 137 rs12746550 Benign
30419 P49802 (RGS7) Q H 409 rs17851953 Benign
30420 P49810 (PSEN2) T P 122 rs63749851 Disease: Alzheimer disease 4 (AD4) [MIM:606889]
30421 P49810 (PSEN2) T R 122 rs28936380 Disease: Alzheimer disease 4 (AD4) [MIM:606889]
30422 P49810 (PSEN2) N I 141 rs63750215 Disease: Alzheimer disease 4 (AD4) [MIM:606889]
30423 P49810 (PSEN2) N Y 141 rs61761208 Disease: Alzheimer disease 4 (AD4) [MIM:606889]
30424 P49810 (PSEN2) V I 148 rs63750812 Disease: Alzheimer disease 4 (AD4) [MIM:606889]
30425 P49810 (PSEN2) M I 239 rs63749884 Disease: Alzheimer disease 4 (AD4) [MIM:606889]
30426 P49810 (PSEN2) M V 239 rs28936379 Disease: Alzheimer disease 4 (AD4) [MIM:606889]
30427 P49815 (TSC2) P T 94 rs1051616 Benign
30428 P49815 (TSC2) L V 160 rs45517109 Benign
30429 P49815 (TSC2) C Y 227 rs45517122 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30430 P49815 (TSC2) K N 258 rs137854875 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30431 P49815 (TSC2) R W 261 rs45517130 Benign
30432 P49815 (TSC2) R P 261 rs45502703 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30433 P49815 (TSC2) M T 286 rs45517136 Benign
30434 P49815 (TSC2) M V 286 rs1800748 Benign
30435 P49815 (TSC2) L P 292 rs45517138 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30436 P49815 (TSC2) G E 294 rs45487497 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30437 P49815 (TSC2) L Q 309 rs137853986 Benign
30438 P49815 (TSC2) L F 320 rs1131825 Benign
30439 P49815 (TSC2) N K 331 rs45517153 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30440 P49815 (TSC2) L P 361 rs45517147 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30441 P49815 (TSC2) R Q 367 rs1800725 Benign
30442 P49815 (TSC2) P L 378 rs45517154 Benign
30443 P49815 (TSC2) Y D 407 rs45517156 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30444 P49815 (TSC2) G S 440 rs45484298 Benign
30445 P49815 (TSC2) M I 449 rs45443091 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30446 P49815 (TSC2) I V 463 rs45517171 Benign
30447 P49815 (TSC2) N I 486 rs45486599 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30448 P49815 (TSC2) I V 490 rs45517175 Benign
30449 P49815 (TSC2) N S 525 rs45457694 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30450 P49815 (TSC2) A V 536 rs45517187 Benign
30451 P49815 (TSC2) A T 583 rs1800729 Benign
30452 P49815 (TSC2) H R 593 rs45517198 Benign
30453 P49815 (TSC2) K M 599 rs45517202 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30454 P49815 (TSC2) A T 607 rs45517203 Benign
30455 P49815 (TSC2) R Q 611 rs28934872 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30456 P49815 (TSC2) R W 611 rs45469298 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30457 P49815 (TSC2) A D 614 rs45454398 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30458 P49815 (TSC2) F S 615 rs45481105 Benign
30459 P49815 (TSC2) L F 619 rs1131826 Benign
30460 P49815 (TSC2) C Y 696 rs45486196 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30461 P49815 (TSC2) L R 717 rs45517214 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30462 P49815 (TSC2) S R 802 rs1051621 Benign
30463 P49815 (TSC2) P L 816 rs45517236 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30464 P49815 (TSC2) L M 826 rs45517238 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30465 P49815 (TSC2) A V 862 rs45517249 Benign
30466 P49815 (TSC2) M V 895 rs45470695 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30467 P49815 (TSC2) R Q 905 rs45517259 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30468 P49815 (TSC2) R W 905 rs45517258 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30469 P49815 (TSC2) L P 1027 rs45438192 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30470 P49815 (TSC2) D E 1084 rs45517286 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30471 P49815 (TSC2) A V 1141 rs34870424 Benign
30472 P49815 (TSC2) V M 1144 rs45517294 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30473 P49815 (TSC2) R W 1200 rs45438205 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30474 P49815 (TSC2) P L 1227 - Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30475 P49815 (TSC2) R W 1240 - Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30476 P49815 (TSC2) S G 1282 rs45446700 Benign
30477 P49815 (TSC2) D V 1295 - Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30478 P49815 (TSC2) P S 1315 rs397514916 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30479 P49815 (TSC2) R H 1329 rs45517323 Benign
30480 P49815 (TSC2) S R 1341 rs45462593 Benign
30481 P49815 (TSC2) A S 1429 rs45474795 Benign
30482 P49815 (TSC2) P R 1450 rs45517338 Benign
30483 P49815 (TSC2) P R 1497 rs45497997 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30484 P49815 (TSC2) S N 1498 rs137854879 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30485 P49815 (TSC2) V I 1547 rs745895675 Disease: Focal cortical dysplasia 2 (FCORD2) [MIM:607341]
30486 P49815 (TSC2) Y C 1549 rs45517355 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30487 P49815 (TSC2) H Y 1620 rs45446901 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30488 P49815 (TSC2) D N 1636 rs45482398 Benign
30489 P49815 (TSC2) N I 1643 rs45517380 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30490 P49815 (TSC2) N K 1643 rs45517381 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30491 P49815 (TSC2) Y C 1650 rs45501091 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30492 P49815 (TSC2) N S 1651 rs45517382 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30493 P49815 (TSC2) S F 1653 rs45517383 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30494 P49815 (TSC2) V L 1673 rs45490993 Benign
30495 P49815 (TSC2) P L 1675 rs45483392 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30496 P49815 (TSC2) N K 1681 rs45476793 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30497 P49815 (TSC2) D Y 1690 rs137854882 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30498 P49815 (TSC2) S T 1704 rs45474691 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30499 P49815 (TSC2) P L 1709 rs45517393 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30500 P49815 (TSC2) A E 1712 - Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30501 P49815 (TSC2) R P 1743 rs45507199 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30502 P49815 (TSC2) R Q 1743 rs45507199 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30503 P49815 (TSC2) L P 1744 rs45517413 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30504 P49815 (TSC2) L F 1750 rs45459299 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30505 P49815 (TSC2) H P 1773 rs45517418 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30506 P49815 (TSC2) S T 1774 rs9209 Benign
30507 P49815 (TSC2) E Q 1783 rs777166275 Disease: Tuberous sclerosis 2 (TSC2) [MIM:613254]
30508 P49815 (TSC2) G S 1787 rs45517419 Benign
30509 P49815 (TSC2) G S 1791 rs45517421 Benign
30510 P49821 (NDUFV1) I V 76 rs1800670 Benign
30511 P49821 (NDUFV1) E K 214 rs121913661 Disease: Mitochondria l complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225]
30512 P49821 (NDUFV1) N Y 277 rs1043770 Benign
30513 P49821 (NDUFV1) A V 341 rs121913660 Disease: Mitochondria l complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225]
30514 P49821 (NDUFV1) T M 423 rs121913659 Disease: Mitochondria l complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225]
30515 P49840 (GSK3A) Q E 109 rs35978177 Benign
30516 P49840 (GSK3A) L F 461 rs35454502 Benign
30517 P49842 (STK19) A D 39 rs34843142 Benign
30518 P49842 (STK19) D N 89 rs267600971 Benign
30519 P49842 (STK19) S G 311 rs616634 Benign
30520 P49842 (STK19) A V 331 rs7743647 Benign
30521 P49848 (TAF6) C S 36 rs4134897 Benign
30522 P49848 (TAF6) R C 46 rs727503778 Disease: Alazami-Yuan syndrome (ALYUS) [MIM:617126]
30523 P49848 (TAF6) I T 71 rs374993554 Disease: Alazami-Yuan syndrome (ALYUS) [MIM:617126]
30524 P49888 (SULT1E1) D Y 22 rs11569705 Benign
30525 P49902 (NT5C2) T A 3 rs10883841 Benign
30526 P49902 (NT5C2) Q R 136 rs12262171 Benign
30527 P49908 (SELENOP) P S 112 rs28919895 Benign
30528 P49908 (SELENOP) A T 234 rs3877899 Benign
30529 P49908 (SELENOP) R Q 278 rs28919923 Benign
30530 P49908 (SELENOP) S P 314 rs28919925 Benign
30531 P49908 (SELENOP) R C 368 rs28919926 Benign
30532 P49914 (MTHFS) L P 36 - Disease: Neurodevelop mental disorder with microcephaly , epilepsy, and hypomyelinat ion (NEDMEHM) [MIM:618367]
30533 P49914 (MTHFS) R Q 145 rs753635972 Disease: Neurodevelop mental disorder with microcephaly , epilepsy, and hypomyelinat ion (NEDMEHM) [MIM:618367]
30534 P49914 (MTHFS) T A 202 rs8923 Benign
30535 P49916 (LIG3) R W 224 rs3744356 Benign
30536 P49916 (LIG3) Y H 768 rs200981995 Benign
30537 P49916 (LIG3) R H 867 rs3136025 Benign
30538 P49916 (LIG3) K T 898 rs4986974 Benign
30539 P49916 (LIG3) P S 986 rs4986973 Benign
30540 P49917 (LIG4) A V 3 rs1805389 Benign
30541 P49917 (LIG4) T I 9 rs1805388 Benign
30542 P49917 (LIG4) D H 62 rs3093763 Benign
30543 P49917 (LIG4) P S 231 rs3093765 Benign
30544 P49917 (LIG4) R H 278 rs104894421 Disease: Leukemia
30545 P49917 (LIG4) E G 461 rs2232640 Benign
30546 P49917 (LIG4) G E 469 rs104894420 Disease: LIG4 syndrome (LIG4S) [MIM:606593]
30547 P49917 (LIG4) L F 539 rs3742212 Benign
30548 P49917 (LIG4) I V 658 rs2232641 Benign
30549 P49917 (LIG4) A T 857 rs2232642 Benign
30550 P49918 (CDKN1C) L P 53 rs483352968 Disease: Beckwith- Wiedemann syndrome (BWS) [MIM:130650]
30551 P49918 (CDKN1C) P L 70 rs483352970 Disease: Beckwith- Wiedemann syndrome (BWS) [MIM:130650]
30552 P49918 (CDKN1C) D N 274 rs387907225 Disease: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
30553 P49918 (CDKN1C) F S 276 rs387907224 Disease: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
30554 P49918 (CDKN1C) F V 276 rs387907223 Disease: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
30555 P49918 (CDKN1C) K E 278 rs387907226 Disease: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
30556 P49918 (CDKN1C) R P 279 rs318240750 Disease: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]
30557 P49959 (MRE11) N S 117 rs137852760 Disease: Ataxia-telan giectasia- like disorder 1 (ATLD1) [MIM:604391]
30558 P49959 (MRE11) M V 157 rs147771140 Benign
30559 P49959 (MRE11) D G 468 rs1805367 Benign
30560 P49959 (MRE11) M V 698 rs1805362 Benign
30561 P49961 (ENTPD1) G R 210 - Disease: Spastic paraplegia 64, autosomal recessive (SPG64) [MIM:615683]
30562 P49961 (ENTPD1) V I 293 rs3793744 Benign
30563 P50052 (AGTR2) Y H 231 rs3729977 Benign
30564 P50052 (AGTR2) R K 248 rs5191 Benign
30565 P50052 (AGTR2) C W 268 rs1042860 Benign
30566 P50053 (KHK) G R 40 rs104893643 Disease: Fructosuria (FRUCT) [MIM:229800]
30567 P50053 (KHK) A T 43 rs104893644 Disease: Fructosuria (FRUCT) [MIM:229800]
30568 P50053 (KHK) V I 49 rs2304681 Benign
30569 P50135 (HNMT) G D 60 rs758252808 Disease: Mental retardation, autosomal recessive 51 (MRT51) [MIM:616739]
30570 P50135 (HNMT) T I 105 rs11558538 Benign
30571 P50135 (HNMT) L P 208 rs745756308 Disease: Mental retardation, autosomal recessive 51 (MRT51) [MIM:616739]
30572 P50148 (GNAQ) R Q 183 rs397514698 Disease: Sturge-Weber syndrome (SWS) [MIM:185300]
30573 P50148 (GNAQ) Q L 209 rs121913492 Benign
30574 P50148 (GNAQ) E D 355 rs1059531 Benign
30575 P50219 (MNX1) R W 243 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30576 P50219 (MNX1) R G 245 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30577 P50219 (MNX1) R H 245 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30578 P50219 (MNX1) T S 246 rs121912548 Disease: Currarino syndrome (CURRAS) [MIM:176450]
30579 P50219 (MNX1) W G 288 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30580 P50219 (MNX1) W L 288 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30581 P50219 (MNX1) F S 289 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30582 P50219 (MNX1) Q P 290 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30583 P50219 (MNX1) R W 292 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30584 P50219 (MNX1) R Q 293 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30585 P50219 (MNX1) R W 293 - Disease: Currarino syndrome (CURRAS) [MIM:176450]
30586 P50221 (MEOX1) S L 27 rs9898682 Benign
30587 P50222 (MEOX2) I L 287 rs2237493 Benign
30588 P50225 (SULT1A1) R Q 37 rs72547527 Benign
30589 P50225 (SULT1A1) E D 151 rs1042014 Benign
30590 P50225 (SULT1A1) E Q 151 rs1042011 Benign
30591 P50225 (SULT1A1) R H 213 rs1042028 Benign
30592 P50225 (SULT1A1) V M 223 rs1801030 Benign
30593 P50225 (SULT1A1) N T 235 rs35728980 Benign
30594 P50225 (SULT1A1) E K 282 rs36043491 Benign
30595 P50226 (SULT1A2) I T 7 rs1136703 Benign
30596 P50226 (SULT1A2) P L 19 rs10797300 Benign
30597 P50226 (SULT1A2) Y F 62 rs4987024 Benign
30598 P50226 (SULT1A2) N T 235 rs1059491 Benign
30599 P50226 (SULT1A2) N S 239 rs45472392 Benign
30600 P50226 (SULT1A2) K E 282 rs27742 Benign
30601 P50281 (MMP14) A T 4 rs17882219 Benign
30602 P50281 (MMP14) R K 6 rs17884647 Benign
30603 P50281 (MMP14) P S 8 rs1042703 Benign
30604 P50281 (MMP14) T R 17 rs587777039 Disease: Winchester syndrome (WNCHRS) [MIM:277950]
30605 P50281 (MMP14) I V 233 rs17884841 Benign
30606 P50281 (MMP14) D N 273 rs1042704 Benign
30607 P50281 (MMP14) R W 302 rs17884719 Benign
30608 P50281 (MMP14) M I 355 rs17880989 Benign
30609 P50281 (MMP14) R H 431 rs3751489 Benign
30610 P50336 (PPOX) G D 11 - Disease: Variegate porphyria (VP) [MIM:176200]
30611 P50336 (PPOX) G S 11 - Disease: Variegate porphyria (VP) [MIM:176200]
30612 P50336 (PPOX) I T 12 rs28936677 Disease: Variegate porphyria (VP) [MIM:176200]
30613 P50336 (PPOX) L F 15 rs769452432 Disease: Variegate porphyria (VP) [MIM:176200]
30614 P50336 (PPOX) H P 20 rs121918326 Disease: Variegate porphyria (VP) [MIM:176200]
30615 P50336 (PPOX) E V 34 - Disease: Variegate porphyria (VP) [MIM:176200]
30616 P50336 (PPOX) R P 38 - Disease: Variegate porphyria (VP) [MIM:176200]
30617 P50336 (PPOX) G A 40 - Disease: Variegate porphyria (VP) [MIM:176200]
30618 P50336 (PPOX) G E 40 rs1317835140 Disease: Variegate porphyria (VP) [MIM:176200]
30619 P50336 (PPOX) G R 57 rs764352037 Disease: Variegate porphyria (VP) [MIM:176200]
30620 P50336 (PPOX) R W 59 rs121918324 Disease: Variegate porphyria (VP) [MIM:176200]
30621 P50336 (PPOX) L P 73 - Disease: Variegate porphyria (VP) [MIM:176200]
30622 P50336 (PPOX) S F 76 - Disease: Variegate porphyria (VP) [MIM:176200]
30623 P50336 (PPOX) V G 84 - Disease: Variegate porphyria (VP) [MIM:176200]
30624 P50336 (PPOX) L P 85 - Disease: Variegate porphyria (VP) [MIM:176200]
30625 P50336 (PPOX) H P 106 - Disease: Variegate porphyria (VP) [MIM:176200]
30626 P50336 (PPOX) R P 138 rs767419411 Disease: Variegate porphyria (VP) [MIM:176200]
30627 P50336 (PPOX) G D 139 rs369381477 Disease: Variegate porphyria (VP) [MIM:176200]
30628 P50336 (PPOX) D V 143 - Disease: Variegate porphyria (VP) [MIM:176200]
30629 P50336 (PPOX) R C 152 - Disease: Variegate porphyria (VP) [MIM:176200]
30630 P50336 (PPOX) L P 154 - Disease: Variegate porphyria (VP) [MIM:176200]
30631 P50336 (PPOX) V L 158 - Disease: Variegate porphyria (VP) [MIM:176200]
30632 P50336 (PPOX) V M 158 - Disease: Variegate porphyria (VP) [MIM:176200]
30633 P50336 (PPOX) R C 168 rs121918325 Disease: Variegate porphyria (VP) [MIM:176200]
30634 P50336 (PPOX) R H 168 rs41270025 Disease: Variegate porphyria (VP) [MIM:176200]
30635 P50336 (PPOX) G E 169 - Disease: Variegate porphyria (VP) [MIM:176200]
30636 P50336 (PPOX) A V 172 - Disease: Variegate porphyria (VP) [MIM:176200]
30637 P50336 (PPOX) L V 178 rs757473753 Disease: Variegate porphyria (VP) [MIM:176200]
30638 P50336 (PPOX) A V 205 - Disease: Variegate porphyria (VP) [MIM:176200]
30639 P50336 (PPOX) R C 217 rs751599052 Disease: Variegate porphyria (VP) [MIM:176200]
30640 P50336 (PPOX) W G 224 - Disease: Variegate porphyria (VP) [MIM:176200]
30641 P50336 (PPOX) W R 224 - Disease: Variegate porphyria (VP) [MIM:176200]
30642 P50336 (PPOX) G R 232 rs121918323 Disease: Variegate porphyria (VP) [MIM:176200]
30643 P50336 (PPOX) G S 232 - Disease: Variegate porphyria (VP) [MIM:176200]
30644 P50336 (PPOX) L S 236 - Disease: Variegate porphyria (VP) [MIM:176200]
30645 P50336 (PPOX) V D 282 - Disease: Variegate porphyria (VP) [MIM:176200]
30646 P50336 (PPOX) I N 283 - Disease: Variegate porphyria (VP) [MIM:176200]
30647 P50336 (PPOX) V M 290 - Disease: Variegate porphyria (VP) [MIM:176200]
30648 P50336 (PPOX) L P 295 - Disease: Variegate porphyria (VP) [MIM:176200]
30649 P50336 (PPOX) R H 304 rs36013429 Benign
30650 P50336 (PPOX) G R 330 - Disease: Variegate porphyria (VP) [MIM:176200]
30651 P50336 (PPOX) G A 332 - Disease: Variegate porphyria (VP) [MIM:176200]
30652 P50336 (PPOX) V G 335 - Disease: Variegate porphyria (VP) [MIM:176200]
30653 P50336 (PPOX) Y C 348 rs900431442 Disease: Variegate porphyria (VP) [MIM:176200]
30654 P50336 (PPOX) D A 349 rs28936676 Disease: Variegate porphyria (VP) [MIM:176200]
30655 P50336 (PPOX) S P 350 - Disease: Variegate porphyria (VP) [MIM:176200]
30656 P50336 (PPOX) G R 358 rs374936130 Disease: Variegate porphyria (VP) [MIM:176200]
30657 P50336 (PPOX) A D 397 rs141274934 Disease: Variegate porphyria (VP) [MIM:176200]
30658 P50336 (PPOX) L F 401 rs776530007 Disease: Variegate porphyria (VP) [MIM:176200]
30659 P50336 (PPOX) P R 420 - Disease: Variegate porphyria (VP) [MIM:176200]
30660 P50336 (PPOX) Y C 422 - Disease: Variegate porphyria (VP) [MIM:176200]
30661 P50336 (PPOX) A P 433 rs1361576529 Disease: Variegate porphyria (VP) [MIM:176200]
30662 P50336 (PPOX) L P 444 - Disease: Variegate porphyria (VP) [MIM:176200]
30663 P50336 (PPOX) G R 448 - Disease: Variegate porphyria (VP) [MIM:176200]
30664 P50336 (PPOX) S P 450 - Disease: Variegate porphyria (VP) [MIM:176200]
30665 P50336 (PPOX) G R 453 rs928944841 Disease: Variegate porphyria (VP) [MIM:176200]
30666 P50336 (PPOX) G V 453 - Disease: Variegate porphyria (VP) [MIM:176200]
30667 P50391 (NPY4R) A S 99 rs2229967 Benign
30668 P50391 (NPY4R) R C 240 rs3824733 Benign
30669 P50402 (EMD) S F 54 - Disease: Emery- Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
30670 P50402 (EMD) Q H 133 - Disease: Emery- Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
30671 P50402 (EMD) D H 149 rs2070818 Benign
30672 P50402 (EMD) P H 183 rs104894805 Disease: Emery- Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
30673 P50402 (EMD) P T 183 rs104894806 Disease: Emery- Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
30674 P50416 (CPT1A) R C 123 rs80356775 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30675 P50416 (CPT1A) A T 275 rs2229738 Benign
30676 P50416 (CPT1A) C W 304 rs80356789 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30677 P50416 (CPT1A) T I 314 rs80356776 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30678 P50416 (CPT1A) R G 316 rs80356796 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30679 P50416 (CPT1A) F V 343 rs80356783 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30680 P50416 (CPT1A) R W 357 rs80356777 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30681 P50416 (CPT1A) E G 360 rs80356787 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30682 P50416 (CPT1A) A V 414 rs80356790 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30683 P50416 (CPT1A) D G 454 rs80356778 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30684 P50416 (CPT1A) G W 465 rs80356784 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30685 P50416 (CPT1A) P L 479 rs80356779 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30686 P50416 (CPT1A) L P 484 rs80356793 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30687 P50416 (CPT1A) Y C 498 rs80356791 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30688 P50416 (CPT1A) G E 709 rs28936374 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30689 P50416 (CPT1A) G E 710 rs80356780 Disease: Carnitine palmitoyltra nsferase 1A deficiency (CPT1AD) [MIM:255120]
30690 P50440 (GATM) P L 105 rs147804855 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30691 P50440 (GATM) Q H 110 rs1288775 Benign
30692 P50440 (GATM) E K 181 rs376982466 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30693 P50440 (GATM) A P 185 - Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30694 P50440 (GATM) R C 189 rs377578020 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30695 P50440 (GATM) Y S 203 rs397514709 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30696 P50440 (GATM) A T 208 rs374059924 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30697 P50440 (GATM) S C 231 rs202225656 Benign
30698 P50440 (GATM) D G 234 rs146057680 Benign
30699 P50440 (GATM) R H 282 rs371447931 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30700 P50440 (GATM) L V 329 rs373802463 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30701 P50440 (GATM) P L 346 rs142814307 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30702 P50440 (GATM) R Q 413 rs1461653218 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30703 P50440 (GATM) R W 413 rs1244824806 Disease: Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
30704 P50443 (SLC26A2) G E 255 rs104893917 Disease: Atelosteogen esis 2 (AO2) [MIM:256050]
30705 P50443 (SLC26A2) F S 256 rs1419613966 Disease: Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]
30706 P50443 (SLC26A2) R W 279 rs104893915 Disease: Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]
30707 P50443 (SLC26A2) N D 425 rs104893920 Disease: Achondrogene sis 1B (ACG1B) [MIM:600972]
30708 P50443 (SLC26A2) Q P 454 rs104893921 Benign
30709 P50443 (SLC26A2) I T 574 rs30832 Benign
30710 P50443 (SLC26A2) C S 653 rs104893924 Disease: Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]
30711 P50443 (SLC26A2) G V 678 rs104893916 Disease: Achondrogene sis 1B (ACG1B) [MIM:600972]
30712 P50443 (SLC26A2) T S 689 rs3776070 Benign
30713 P50443 (SLC26A2) A V 715 rs104893918 Disease: Multiple epiphyseal dysplasia 4 (EDM4) [MIM:226900]
30714 P50452 (SERPINB8) R Q 68 rs1944270 Benign
30715 P50452 (SERPINB8) K N 158 rs1648493 Benign
30716 P50452 (SERPINB8) T A 304 rs3169983 Benign
30717 P50452 (SERPINB8) H R 359 rs3826616 Benign
30718 P50454 (SERPINH1) A P 41 rs7105528 Benign
30719 P50454 (SERPINH1) L P 78 rs137853892 Disease: Osteogenesis imperfecta 10 (OI10) [MIM:613848]
30720 P50461 (CSRP3) L P 44 rs104894205 Disease: Cardiomyopat hy, familial hypertrophic 12 (CMH12) [MIM:612124]
30721 P50461 (CSRP3) C G 58 rs104894204 Disease: Cardiomyopat hy, familial hypertrophic 12 (CMH12) [MIM:612124]
30722 P50479 (PDLIM4) R G 118 rs17851430 Benign
30723 P50479 (PDLIM4) R C 142 rs1050805 Benign
30724 P50479 (PDLIM4) V I 184 rs175218 Benign
30725 P50479 (PDLIM4) G C 259 rs4877 Benign
30726 P50502 (ST13) M I 297 rs710193 Benign
30727 P50539 (MXI1) E A 152 rs137852603 Disease: Prostate cancer (PC) [MIM:176807]
30728 P50542 (PEX5) N K 526 rs61752138 Disease: Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370]
30729 P50542 (PEX5) S W 600 - Disease: Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370]
30730 P50548 (ERF) R Q 65 rs587777009 Disease: Craniosynost osis 4 (CRS4) [MIM:600775]
30731 P50548 (ERF) R C 86 rs587777008 Disease: Craniosynost osis 4 (CRS4) [MIM:600775]
30732 P50548 (ERF) Y C 89 rs886041001 Disease: Chitayat syndrome (CHYTS) [MIM:617180]
30733 P50548 (ERF) R H 205 rs1053655 Benign
30734 P50549 (ETV1) S G 100 rs9639168 Benign
30735 P50552 (VASP) A T 104 rs10415373 Benign
30736 P50552 (VASP) Q H 140 rs34345197 Benign
30737 P50553 (ASCL1) E G 158 rs1803157 Benign
30738 P50570 (DNM2) P L 263 rs3745674 Benign
30739 P50570 (DNM2) G R 358 rs267606772 Disease: Charcot- Marie-Tooth disease 2M (CMT2M) [MIM:606482]
30740 P50570 (DNM2) E K 368 rs121909092 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30741 P50570 (DNM2) E Q 368 - Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30742 P50570 (DNM2) R Q 369 rs121909089 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30743 P50570 (DNM2) R W 369 rs121909090 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30744 P50570 (DNM2) F V 379 rs397514735 Disease: Lethal congenital contracture syndrome 5 (LCCS5) [MIM:615368]
30745 P50570 (DNM2) R W 465 rs121909091 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30746 P50570 (DNM2) R C 522 - Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30747 P50570 (DNM2) R H 522 rs587783595 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30748 P50570 (DNM2) R G 523 rs587783596 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30749 P50570 (DNM2) G C 537 rs121909093 Disease: Charcot- Marie-Tooth disease 2M (CMT2M) [MIM:606482]
30750 P50570 (DNM2) E K 560 rs879254086 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30751 P50570 (DNM2) K E 562 rs121909088 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, B (CMTDIB) [MIM:606482]
30752 P50570 (DNM2) L H 570 rs121909094 Disease: Charcot- Marie-Tooth disease 2M (CMT2M) [MIM:606482]
30753 P50570 (DNM2) A D 618 rs1555715869 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30754 P50570 (DNM2) A T 618 - Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30755 P50570 (DNM2) S L 619 rs121909095 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30756 P50570 (DNM2) S W 619 rs121909095 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30757 P50570 (DNM2) L P 621 rs587783597 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30758 P50570 (DNM2) P H 627 - Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30759 P50570 (DNM2) P R 627 rs587783598 Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30760 P50570 (DNM2) E K 650 - Disease: Myopathy, centronuclea r, 1 (CNM1) [MIM:160150]
30761 P50591 (TNFSF10) V I 33 rs6763816 Benign
30762 P50591 (TNFSF10) D E 47 rs16845759 Benign
30763 P50613 (CDK7) G A 163 - Benign
30764 P50613 (CDK7) T M 285 rs34584424 Benign
30765 P50616 (TOB1) K R 319 rs3316 Benign
30766 P50747 (HLCS) R P 183 - Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30767 P50747 (HLCS) L R 216 rs28934602 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30768 P50747 (HLCS) L P 237 rs119103227 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30769 P50747 (HLCS) G W 241 - Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30770 P50747 (HLCS) V E 333 rs1198548955 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30771 P50747 (HLCS) R S 360 rs1230666123 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30772 P50747 (HLCS) V D 363 rs769499327 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30773 P50747 (HLCS) Y C 456 rs781603756 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30774 P50747 (HLCS) T I 462 rs1256356959 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30775 P50747 (HLCS) L S 470 rs1261821166 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30776 P50747 (HLCS) G R 505 rs1555885056 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30777 P50747 (HLCS) R W 508 rs119103229 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30778 P50747 (HLCS) N K 511 - Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30779 P50747 (HLCS) G E 518 - Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30780 P50747 (HLCS) V G 547 - Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30781 P50747 (HLCS) V M 550 rs119103231 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30782 P50747 (HLCS) D N 571 rs119103228 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30783 P50747 (HLCS) G S 581 rs119103230 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30784 P50747 (HLCS) G R 582 rs376899782 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30785 P50747 (HLCS) D Y 615 - Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30786 P50747 (HLCS) D N 634 rs149399432 Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30787 P50747 (HLCS) D Y 634 - Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30788 P50747 (HLCS) D G 715 - Disease: Holocarboxyl ase synthetase deficiency (HLCS deficiency) [MIM:253270]
30789 P50748 (KNTC1) K N 245 rs7968222 Benign
30790 P50748 (KNTC1) E D 738 rs17883249 Benign
30791 P50748 (KNTC1) T M 1506 rs35315099 Benign
30792 P50748 (KNTC1) P L 1830 rs7310898 Benign
30793 P50748 (KNTC1) V G 2021 rs11837038 Benign
30794 P50750 (CDK9) F L 59 rs55640715 Benign
30795 P50750 (CDK9) G A 231 - Benign
30796 P50851 (LRBA) A G 1090 rs1782360 Benign
30797 P50851 (LRBA) G D 1230 rs34708681 Benign
30798 P50851 (LRBA) N S 1677 rs17027133 Benign
30799 P50851 (LRBA) R C 1997 rs35879351 Benign
30800 P50851 (LRBA) I S 2657 rs199469663 Disease: Immunodefici ency, common variable, 8, with autoimmunity (CVID8) [MIM:614700]
30801 P50851 (LRBA) A T 2704 rs3749574 Benign
30802 P50851 (LRBA) L F 2713 rs34662958 Benign
30803 P50851 (LRBA) S L 2809 rs2290846 Benign
30804 P50876 (RNF144A) T A 4 rs364891 Benign
30805 P50895 (BCAM) R H 77 rs28399653 Benign
30806 P50895 (BCAM) V I 196 rs28399654 Benign
30807 P50895 (BCAM) M K 204 rs28399656 Benign
30808 P50895 (BCAM) R H 282 rs9967601 Benign
30809 P50895 (BCAM) V I 381 rs28399626 Benign
30810 P50895 (BCAM) K Q 451 rs28399630 Benign
30811 P50895 (BCAM) T A 539 rs1135062 Benign
30812 P50895 (BCAM) Q L 581 rs28399659 Benign
30813 P50897 (PPT1) W C 38 rs386833626 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30814 P50897 (PPT1) H Q 39 rs386833627 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30815 P50897 (PPT1) G E 42 rs386833631 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30816 P50897 (PPT1) C Y 45 rs137852702 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30817 P50897 (PPT1) T P 75 rs137852696 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30818 P50897 (PPT1) D G 79 rs137852697 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30819 P50897 (PPT1) G R 108 rs137852701 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30820 P50897 (PPT1) Y D 109 rs386833642 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30821 P50897 (PPT1) R W 122 rs137852695 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30822 P50897 (PPT1) I T 134 rs1800205 Benign
30823 P50897 (PPT1) S L 138 rs386833646 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30824 P50897 (PPT1) C Y 152 rs386833647 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30825 P50897 (PPT1) Q E 177 rs386833650 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30826 P50897 (PPT1) V L 181 rs148412181 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30827 P50897 (PPT1) V M 181 rs148412181 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30828 P50897 (PPT1) H R 187 rs386833657 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30829 P50897 (PPT1) P R 189 rs386833658 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30830 P50897 (PPT1) L Q 219 rs137852698 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30831 P50897 (PPT1) L P 222 rs386833661 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30832 P50897 (PPT1) V G 228 rs386833663 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30833 P50897 (PPT1) Y H 247 rs386833665 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30834 P50897 (PPT1) G V 250 rs386833666 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30835 P50897 (PPT1) W R 296 rs386833669 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30836 P50897 (PPT1) L P 305 rs386833671 Disease: Ceroid lipofuscinos is, neuronal, 1 (CLN1) [MIM:256730]
30837 P50914 (RPL14) A S 138 rs929099541 Benign
30838 P50990 (CCT8) H Q 4 rs16983693 Benign
30839 P50990 (CCT8) V I 409 rs8129954 Benign
30840 P50991 (CCT4) I V 112 rs2272428 Benign
30841 P50993 (ATP1A2) G A 366 rs1057518514 Disease: -
30842 P50993 (ATP1A2) T N 378 rs28934002 Disease: Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]
30843 P50993 (ATP1A2) R Q 689 rs28933401 Disease: Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
30844 P50993 (ATP1A2) G R 715 rs1553245771 Disease: Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
30845 P50993 (ATP1A2) M T 731 rs28933400 Disease: Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
30846 P50993 (ATP1A2) L P 764 rs28933398 Disease: Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
30847 P50993 (ATP1A2) G S 874 - Disease: Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
30848 P50993 (ATP1A2) W R 887 rs28933399 Disease: Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
30849 P50993 (ATP1A2) R W 1007 rs746795369 Disease: Migraine, familial hemiplegic, 2 (FHM2) [MIM:602481]
30850 P50995 (ANXA11) D G 40 rs1247392012 Disease: Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839]
30851 P50995 (ANXA11) R Q 191 rs2229554 Benign
30852 P50995 (ANXA11) R C 230 rs1049550 Benign
30853 P50995 (ANXA11) I V 457 rs1802932 Benign
30854 P51114 (FXR1) D N 429 rs1051080 Benign
30855 P51114 (FXR1) A V 614 rs11499 Benign
30856 P51116 (FXR2) Q H 252 rs17854734 Benign
30857 P51116 (FXR2) R P 591 rs36013555 Benign
30858 P51124 (GZMM) R G 221 rs1599882 Benign
30859 P51149 (RAB7A) K E 32 rs11549759 Benign
30860 P51149 (RAB7A) L F 129 rs121909078 Disease: Charcot- Marie-Tooth disease 2B (CMT2B) [MIM:600882]
30861 P51149 (RAB7A) K N 157 rs121909081 Disease: Charcot- Marie-Tooth disease 2B (CMT2B) [MIM:600882]
30862 P51149 (RAB7A) N T 161 rs121909080 Disease: Charcot- Marie-Tooth disease 2B (CMT2B) [MIM:600882]
30863 P51149 (RAB7A) V M 162 rs121909079 Disease: Charcot- Marie-Tooth disease 2B (CMT2B) [MIM:600882]
30864 P51159 (RAB27A) T S 62 rs1050930 Benign
30865 P51159 (RAB27A) W G 73 rs28938176 Disease: Griscelli syndrome 2 (GS2) [MIM:607624]
30866 P51159 (RAB27A) L F 84 rs4340274 Benign
30867 P51159 (RAB27A) T P 85 rs719705 Benign
30868 P51159 (RAB27A) L P 130 rs104894498 Disease: Griscelli syndrome 2 (GS2) [MIM:607624]
30869 P51159 (RAB27A) A P 152 rs104894499 Disease: Griscelli syndrome 2 (GS2) [MIM:607624]
30870 P51160 (PDE6C) R W 29 rs121918537 Disease: Cone dystrophy 4 (COD4) [MIM:613093]
30871 P51160 (PDE6C) R W 104 rs769506319 Disease: Achromatopsi a 5 (ACHM5) [MIM:613093]
30872 P51160 (PDE6C) D E 157 rs76999928 Benign
30873 P51160 (PDE6C) S T 270 rs701865 Benign
30874 P51160 (PDE6C) Y N 323 rs121918538 Disease: Achromatopsi a 5 (ACHM5) [MIM:613093]
30875 P51160 (PDE6C) P L 391 - Disease: Achromatopsi a 5 (ACHM5) [MIM:613093]
30876 P51160 (PDE6C) M V 455 rs121918539 Disease: Achromatopsi a 5 (ACHM5) [MIM:613093]
30877 P51160 (PDE6C) H L 602 rs267606934 Disease: Achromatopsi a 5 (ACHM5) [MIM:613093]
30878 P51160 (PDE6C) E A 699 rs12261131 Benign
30879 P51160 (PDE6C) E K 790 rs267606936 Disease: Achromatopsi a 5 (ACHM5) [MIM:613093]
30880 P51160 (PDE6C) K N 822 rs79487435 Benign
30881 P51160 (PDE6C) E G 834 rs148661165 Benign
30882 P51161 (FABP6) R H 33 rs17856662 Benign
30883 P51161 (FABP6) S Y 55 rs17852045 Benign
30884 P51161 (FABP6) T M 79 rs1130435 Benign
30885 P51168 (SCNN1B) G S 37 rs137852706 Disease: Pseudohypoal dosteronism 1, autosomal recessive (PHA1B) [MIM:264350]
30886 P51168 (SCNN1B) S C 82 rs35731153 Disease: Bronchiectas is with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
30887 P51168 (SCNN1B) P L 267 rs137852709 Disease: Bronchiectas is with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
30888 P51168 (SCNN1B) N S 288 rs137852712 Disease: Bronchiectas is with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
30889 P51168 (SCNN1B) G S 294 rs72654338 Disease: Bronchiectas is with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
30890 P51168 (SCNN1B) A P 336 - Benign
30891 P51168 (SCNN1B) V M 348 rs61759921 Disease: Bronchiectas is with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
30892 P51168 (SCNN1B) P T 369 rs137852711 Disease: Bronchiectas is with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
30893 P51168 (SCNN1B) V M 434 rs201330438 Benign
30894 P51168 (SCNN1B) G V 442 rs1799980 Benign
30895 P51168 (SCNN1B) E K 539 rs137852710 Disease: Bronchiectas is with or without elevated sweat chloride 1 (BESC1) [MIM:211400]
30896 P51168 (SCNN1B) R Q 563 rs149868979 Benign
30897 P51168 (SCNN1B) G S 589 rs61759926 Benign
30898 P51168 (SCNN1B) T M 594 rs1799979 Benign
30899 P51168 (SCNN1B) R H 597 rs140945152 Benign
30900 P51168 (SCNN1B) P L 616 rs387906402 Disease: Liddle syndrome 1 (LIDLS1) [MIM:177200]
30901 P51168 (SCNN1B) P S 616 - Disease: Liddle syndrome 1 (LIDLS1) [MIM:177200]
30902 P51168 (SCNN1B) P S 617 rs137852708 Disease: Liddle syndrome 1 (LIDLS1) [MIM:177200]
30903 P51168 (SCNN1B) P R 618 rs137852705 Disease: Liddle syndrome 1 (LIDLS1) [MIM:177200]
30904 P51168 (SCNN1B) Y H 620 rs137852707 Disease: Liddle syndrome 1 (LIDLS1) [MIM:177200]
30905 P51168 (SCNN1B) R C 624 rs372132399 Benign
30906 P51168 (SCNN1B) E G 632 - Benign
30907 P51170 (SCNN1G) G C 49 rs5733 Benign
30908 P51170 (SCNN1G) R W 178 - Benign
30909 P51170 (SCNN1G) G S 183 rs5736 Benign
30910 P51170 (SCNN1G) E K 197 rs5738 Benign
30911 P51170 (SCNN1G) A P 502 - Benign
30912 P51170 (SCNN1G) A S 614 - Benign
30913 P51172 (SCNN1D) R P 344 rs11260579 Benign
30914 P51172 (SCNN1D) E Q 544 rs2228579 Benign
30915 P51172 (SCNN1D) A T 636 rs13306651 Benign
30916 P51172 (SCNN1D) C Y 696 rs1053844 Benign
30917 P51172 (SCNN1D) G S 726 rs6690013 Benign
30918 P51172 (SCNN1D) G R 770 rs609805 Benign
30919 P51178 (PLCD1) T R 209 - Disease: Nail disorder, non- syndromic congenital, 3 (NDNC3) [MIM:151600]
30920 P51178 (PLCD1) R H 257 rs933135 Benign
30921 P51178 (PLCD1) I T 574 - Disease: Nail disorder, non- syndromic congenital, 3 (NDNC3) [MIM:151600]
30922 P51398 (DAP3) V F 240 rs57692591 Benign
30923 P51449 (RORC) S L 38 rs774357869 Disease: Immunodefici ency 42 (IMD42) [MIM:616622]
30924 P51451 (BLK) T I 48 rs35339715 Benign
30925 P51451 (BLK) A T 71 rs55758736 Benign
30926 P51460 (INSL3) A G 24 rs186828508 Benign
30927 P51460 (INSL3) V L 43 - Benign
30928 P51460 (INSL3) P S 49 rs751299877 Benign
30929 P51460 (INSL3) T A 60 rs6523 Benign
30930 P51460 (INSL3) P L 93 rs104894697 Disease: Cryptorchidi sm (CRYPTO) [MIM:219050]
30931 P51460 (INSL3) R H 102 rs121912556 Benign
30932 P51460 (INSL3) R C 102 rs104894698 Disease: Cryptorchidi sm (CRYPTO) [MIM:219050]
30933 P51460 (INSL3) N K 110 rs121912555 Disease: Cryptorchidi sm (CRYPTO) [MIM:219050]
30934 P51504 (ZNF80) R H 201 rs6438191 Benign
30935 P51504 (ZNF80) D A 253 rs3732782 Benign
30936 P51508 (ZNF81) A V 3 rs183846665 Benign
30937 P51508 (ZNF81) G V 117 rs17147793 Benign
30938 P51508 (ZNF81) N S 157 rs41312157 Benign
30939 P51508 (ZNF81) S L 185 rs186251256 Benign
30940 P51508 (ZNF81) A E 213 rs537825 Benign
30941 P51508 (ZNF81) I V 499 rs182239885 Benign
30942 P51511 (MMP15) L P 200 rs41340745 Benign
30943 P51511 (MMP15) P L 350 rs41335851 Benign
30944 P51511 (MMP15) D G 596 rs41504346 Benign
30945 P51511 (MMP15) G R 609 rs3743563 Benign
30946 P51511 (MMP15) R W 622 rs41434246 Benign
30947 P51522 (ZNF83) T I 70 rs3786490 Benign
30948 P51522 (ZNF83) S N 96 rs1056185 Benign
30949 P51522 (ZNF83) T M 119 rs329940 Benign
30950 P51522 (ZNF83) H R 392 rs11545619 Benign
30951 P51530 (DNA2) R H 198 rs1272393477 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156]
30952 P51530 (DNA2) K E 227 rs760412883 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156]
30953 P51530 (DNA2) V I 637 rs746522359 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156]
30954 P51531 (SMARCA2) G A 752 rs281875198 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30955 P51531 (SMARCA2) K R 755 rs281875203 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30956 P51531 (SMARCA2) T I 756 rs281875191 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30957 P51531 (SMARCA2) D H 851 rs281875206 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30958 P51531 (SMARCA2) E D 852 rs281875193 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30959 P51531 (SMARCA2) E K 852 rs281875199 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30960 P51531 (SMARCA2) H N 854 - Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30961 P51531 (SMARCA2) H R 854 rs281875202 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30962 P51531 (SMARCA2) R G 855 rs281875207 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30963 P51531 (SMARCA2) R Q 855 rs1471482709 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30964 P51531 (SMARCA2) T I 880 - Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30965 P51531 (SMARCA2) G R 881 rs281875194 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30966 P51531 (SMARCA2) G V 881 rs281875185 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30967 P51531 (SMARCA2) P L 883 rs281875188 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30968 P51531 (SMARCA2) H Y 939 rs281875190 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30969 P51531 (SMARCA2) L F 946 rs281875205 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30970 P51531 (SMARCA2) L S 946 rs281875200 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30971 P51531 (SMARCA2) R C 1105 rs281875192 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30972 P51531 (SMARCA2) R P 1105 rs281875197 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30973 P51531 (SMARCA2) L P 1135 rs281875195 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30974 P51531 (SMARCA2) S R 1146 rs281875204 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30975 P51531 (SMARCA2) D V 1158 rs281875240 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30976 P51531 (SMARCA2) R G 1159 rs281875184 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30977 P51531 (SMARCA2) R L 1159 rs281875187 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30978 P51531 (SMARCA2) R Q 1159 rs281875187 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30979 P51531 (SMARCA2) R H 1162 rs281875186 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30980 P51531 (SMARCA2) A P 1188 rs281875196 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30981 P51531 (SMARCA2) A V 1201 rs281875189 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30982 P51531 (SMARCA2) G C 1202 rs281875239 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30983 P51531 (SMARCA2) D G 1205 rs281875201 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30984 P51531 (SMARCA2) R W 1213 rs281875238 Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30985 P51531 (SMARCA2) Q E 1241 - Disease: Nicolaides- Baraitser syndrome (NCBRS) [MIM:601358]
30986 P51531 (SMARCA2) G A 1416 rs3793510 Benign
30987 P51531 (SMARCA2) D E 1546 rs2296212 Benign
30988 P51532 (SMARCA4) V E 561 rs1804579 Benign
30989 P51532 (SMARCA4) T M 859 rs281875226 Disease: Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
30990 P51532 (SMARCA4) R C 885 rs281875227 Disease: Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
30991 P51532 (SMARCA4) L F 921 rs281875228 Disease: Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
30992 P51532 (SMARCA4) M T 1011 rs281875229 Disease: Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
30993 P51532 (SMARCA4) M I 1036 rs1801514 Benign
30994 P51532 (SMARCA4) R G 1157 rs281875230 Disease: Coffin-Siris syndrome 4 (CSS4) [MIM:614609]
30995 P51570 (GALK1) P T 28 rs104894572 Disease: Galactosemia II (GALCT2) [MIM:230200]
30996 P51570 (GALK1) V M 32 rs104894576 Disease: Galactosemia II (GALCT2) [MIM:230200]
30997 P51570 (GALK1) G R 36 - Disease: Galactosemia II (GALCT2) [MIM:230200]
30998 P51570 (GALK1) H Y 44 rs1555748926 Disease: Galactosemia II (GALCT2) [MIM:230200]
30999 P51570 (GALK1) R C 68 rs1365349586 Disease: Galactosemia II (GALCT2) [MIM:230200]
31000 P51570 (GALK1) I M 184 rs773416476 Benign
31001 P51570 (GALK1) A V 198 rs80084721 Disease: Galactosemia II (GALCT2) [MIM:230200]
31002 P51570 (GALK1) R Q 239 rs575139300 Disease: Galactosemia II (GALCT2) [MIM:230200]
31003 P51570 (GALK1) G D 274 rs959842362 Benign
31004 P51570 (GALK1) T M 288 rs759284637 Disease: Galactosemia II (GALCT2) [MIM:230200]
31005 P51570 (GALK1) V A 338 - Benign
31006 P51570 (GALK1) G S 346 rs375690568 Disease: Galactosemia II (GALCT2) [MIM:230200]
31007 P51570 (GALK1) G S 349 rs754967473 Disease: Galactosemia II (GALCT2) [MIM:230200]
31008 P51570 (GALK1) A P 384 rs1184406839 Disease: Galactosemia II (GALCT2) [MIM:230200]
31009 P51571 (SSR4) G R 144 rs782018895 Benign
31010 P51575 (P2RX1) M V 396 rs34617528 Benign
31011 P51580 (TPMT) L S 49 rs72552740 Benign
31012 P51580 (TPMT) A P 80 rs1800462 Benign
31013 P51580 (TPMT) A T 154 rs1800460 Benign
31014 P51580 (TPMT) Q H 179 rs6921269 Benign
31015 P51580 (TPMT) Y F 180 rs75543815 Benign
31016 P51580 (TPMT) R H 215 rs56161402 Benign
31017 P51580 (TPMT) H Q 227 rs72552736 Benign
31018 P51580 (TPMT) Y C 240 rs1142345 Benign
31019 P51582 (P2RY4) V M 168 rs1152186 Benign
31020 P51582 (P2RY4) N T 178 rs1152187 Benign
31021 P51582 (P2RY4) P L 191 rs1152188 Benign
31022 P51582 (P2RY4) S A 234 rs3829709 Benign
31023 P51587 (BRCA2) G R 25 rs80358961 Disease: Breast cancer (BC) [MIM:114480]
31024 P51587 (BRCA2) W C 31 rs80359214 Disease: Breast cancer (BC) [MIM:114480]
31025 P51587 (BRCA2) W R 31 rs80359182 Disease: Breast cancer (BC) [MIM:114480]
31026 P51587 (BRCA2) F L 32 rs397508057 Disease: Breast cancer (BC) [MIM:114480]
31027 P51587 (BRCA2) K R 53 rs397507595 Disease: Breast cancer (BC) [MIM:114480]
31028 P51587 (BRCA2) T I 64 rs397507615 Disease: Breast cancer (BC) [MIM:114480]
31029 P51587 (BRCA2) F L 81 rs80358507 Disease: Breast cancer (BC) [MIM:114480]
31030 P51587 (BRCA2) N H 108 rs80358567 Benign
31031 P51587 (BRCA2) P R 201 rs397507822 Disease: Breast cancer (BC) [MIM:114480]
31032 P51587 (BRCA2) V A 211 - Disease: Breast cancer (BC) [MIM:114480]
31033 P51587 (BRCA2) P S 222 rs397507873 Disease: Breast cancer (BC) [MIM:114480]
31034 P51587 (BRCA2) T A 225 rs80358897 Benign
31035 P51587 (BRCA2) N H 289 rs766173 Benign
31036 P51587 (BRCA2) K Q 322 rs11571640 Benign
31037 P51587 (BRCA2) S R 326 rs28897706 Disease: Breast cancer (BC) [MIM:114480]
31038 P51587 (BRCA2) N H 372 rs144848 Benign
31039 P51587 (BRCA2) I T 505 rs28897708 Disease: Breast cancer (BC) [MIM:114480]
31040 P51587 (BRCA2) K R 513 rs28897709 Benign
31041 P51587 (BRCA2) C W 554 rs80358451 Disease: Pancreas cancer
31042 P51587 (BRCA2) T P 582 rs80358457 Benign
31043 P51587 (BRCA2) T A 598 rs28897710 Benign
31044 P51587 (BRCA2) S F 599 rs1046984 Benign
31045 P51587 (BRCA2) P L 606 rs80358469 Benign
31046 P51587 (BRCA2) D Y 707 rs80358487 Benign
31047 P51587 (BRCA2) D A 728 rs757577670 Disease: Breast cancer (BC) [MIM:114480]
31048 P51587 (BRCA2) I M 729 rs397507620 Disease: Breast cancer (BC) [MIM:114480]
31049 P51587 (BRCA2) M V 784 rs11571653 Benign
31050 P51587 (BRCA2) N I 886 rs80358526 Benign
31051 P51587 (BRCA2) L S 929 rs2227943 Benign
31052 P51587 (BRCA2) S F 976 rs11571656 Benign
31053 P51587 (BRCA2) I L 982 rs28897717 Benign
31054 P51587 (BRCA2) N I 987 rs2227944 Benign
31055 P51587 (BRCA2) N D 991 rs1799944 Benign
31056 P51587 (BRCA2) N S 1147 rs1799951 Benign
31057 P51587 (BRCA2) S N 1179 rs397507674 Disease: Breast cancer (BC) [MIM:114480]
31058 P51587 (BRCA2) N S 1279 rs1060502384 Benign
31059 P51587 (BRCA2) C Y 1290 rs41293485 Benign
31060 P51587 (BRCA2) T M 1414 rs70953664 Benign
31061 P51587 (BRCA2) D Y 1420 rs28897727 Benign
31062 P51587 (BRCA2) D N 1513 rs80358687 Benign
31063 P51587 (BRCA2) L F 1522 rs397507729 Benign
31064 P51587 (BRCA2) V M 1542 rs28897729 Benign
31065 P51587 (BRCA2) H N 1561 rs2219594 Benign
31066 P51587 (BRCA2) C Y 1580 rs398122784 Disease: Breast cancer (BC) [MIM:114480]
31067 P51587 (BRCA2) E D 1593 rs80358703 Benign
31068 P51587 (BRCA2) V A 1643 rs28897731 Benign
31069 P51587 (BRCA2) T I 1679 - Disease: Breast cancer (BC) [MIM:114480]
31070 P51587 (BRCA2) K N 1690 rs56087561 Disease: Breast cancer (BC) [MIM:114480]
31071 P51587 (BRCA2) N Y 1730 rs397507770 Disease: Breast cancer (BC) [MIM:114480]
31072 P51587 (BRCA2) V A 1804 rs370252983 Disease: Breast cancer (BC) [MIM:114480]
31073 P51587 (BRCA2) N S 1805 rs80358765 Benign
31074 P51587 (BRCA2) N K 1880 rs11571657 Benign
31075 P51587 (BRCA2) T M 1887 rs397507795 Disease: Breast cancer (BC) [MIM:114480]
31076 P51587 (BRCA2) E K 1901 - Disease: Breast cancer (BC) [MIM:114480]
31077 P51587 (BRCA2) D N 1902 rs4987048 Benign
31078 P51587 (BRCA2) T M 1915 rs4987117 Benign
31079 P51587 (BRCA2) S R 1979 rs28897737 Benign
31080 P51587 (BRCA2) R C 2034 rs1799954 Benign
31081 P51587 (BRCA2) G V 2044 rs56191579 Benign
31082 P51587 (BRCA2) S C 2072 rs80358862 Disease: Breast cancer (BC) [MIM:114480]
31083 P51587 (BRCA2) H N 2074 rs34309943 Benign
31084 P51587 (BRCA2) E D 2089 - Disease: Breast cancer (BC) [MIM:114480]
31085 P51587 (BRCA2) Y C 2094 rs397507838 Disease: Breast cancer (BC) [MIM:114480]
31086 P51587 (BRCA2) P L 2096 - Disease: Breast cancer (BC) [MIM:114480]
31087 P51587 (BRCA2) R C 2108 rs55794205 Benign
31088 P51587 (BRCA2) H R 2116 rs55953736 Benign
31089 P51587 (BRCA2) K N 2128 rs397507847 Disease: Breast cancer (BC) [MIM:114480]
31090 P51587 (BRCA2) N H 2135 rs80358876 Disease: Breast cancer (BC) [MIM:114480]
31091 P51587 (BRCA2) V F 2138 rs11571659 Benign
31092 P51587 (BRCA2) K R 2162 rs11571660 Benign
31093 P51587 (BRCA2) Y C 2222 rs397507875 Disease: Breast cancer (BC) [MIM:114480]
31094 P51587 (BRCA2) D E 2238 rs28897742 Benign
31095 P51587 (BRCA2) G V 2274 rs55712212 Disease: Breast cancer (BC) [MIM:114480]
31096 P51587 (BRCA2) R Q 2336 rs28897743 Benign
31097 P51587 (BRCA2) R H 2336 rs28897743 Disease: Fanconi anemia complementat ion group D1 (FANCD1) [MIM:605724]
31098 P51587 (BRCA2) H N 2415 - Disease: Breast cancer (BC) [MIM:114480]
31099 P51587 (BRCA2) Q H 2421 - Disease: Breast cancer (BC) [MIM:114480]
31100 P51587 (BRCA2) H R 2440 rs4986860 Benign
31101 P51587 (BRCA2) N D 2447 rs4986859 Benign
31102 P51587 (BRCA2) Q E 2456 rs397507912 Disease: Breast cancer (BC) [MIM:114480]
31103 P51587 (BRCA2) A V 2466 - Benign
31104 P51587 (BRCA2) L V 2480 rs80358965 Benign
31105 P51587 (BRCA2) I T 2490 rs11571707 Benign
31106 P51587 (BRCA2) L P 2510 rs80358979 Disease: Fanconi anemia complementat ion group D1 (FANCD1) [MIM:605724]
31107 P51587 (BRCA2) W C 2626 rs80359013 Disease: Fanconi anemia complementat ion group D1 (FANCD1) [MIM:605724]
31108 P51587 (BRCA2) E V 2663 rs80359031 Benign
31109 P51587 (BRCA2) L P 2686 rs28897746 Benign
31110 P51587 (BRCA2) N S 2706 rs80359055 Benign
31111 P51587 (BRCA2) T R 2722 rs80359062 Disease: Breast cancer (BC) [MIM:114480]
31112 P51587 (BRCA2) D G 2723 rs41293513 Disease: Breast cancer (BC) [MIM:114480]
31113 P51587 (BRCA2) V I 2728 rs28897749 Disease: Breast cancer (BC) [MIM:114480]
31114 P51587 (BRCA2) S P 2835 rs11571746 Benign
31115 P51587 (BRCA2) I F 2944 rs4987047 Benign
31116 P51587 (BRCA2) V M 2969 rs59004709 Benign
31117 P51587 (BRCA2) R W 3052 rs45580035 Disease: Breast cancer (BC) [MIM:114480]
31118 P51587 (BRCA2) G E 3076 rs80359187 Disease: Breast cancer (BC) [MIM:114480]
31119 P51587 (BRCA2) L R 3101 rs28897758 Benign
31120 P51587 (BRCA2) M T 3118 rs56204128 Disease: Breast cancer (BC) [MIM:114480]
31121 P51587 (BRCA2) N I 3124 rs28897759 Disease: Breast cancer (BC) [MIM:114480]
31122 P51587 (BRCA2) K E 3196 rs80359228 Disease: Breast cancer (BC) [MIM:114480]
31123 P51587 (BRCA2) V I 3244 rs11571831 Benign
31124 P51587 (BRCA2) K R 3257 rs55847618 Benign
31125 P51587 (BRCA2) R S 3276 rs80359245 Benign
31126 P51587 (BRCA2) T R 3357 rs80358388 Disease: Breast cancer (BC) [MIM:114480]
31127 P51587 (BRCA2) T I 3374 rs56309455 Benign
31128 P51587 (BRCA2) I V 3412 rs1801426 Benign
31129 P51589 (CYP2J2) R S 49 rs11572190 Benign
31130 P51589 (CYP2J2) V M 113 rs11572242 Benign
31131 P51589 (CYP2J2) N S 124 rs2228113 Benign
31132 P51589 (CYP2J2) T A 143 rs55753213 Benign
31133 P51589 (CYP2J2) R C 158 rs56307989 Benign
31134 P51589 (CYP2J2) I N 192 rs66515830 Benign
31135 P51589 (CYP2J2) D N 342 rs56053398 Benign
31136 P51589 (CYP2J2) N Y 404 rs72547598 Benign
31137 P51606 (RENBP) Q R 169 rs2229241 Benign
31138 P51606 (RENBP) D G 284 rs2269371 Benign
31139 P51608 (MECP2) E Q 10 rs61754421 Disease: Rett syndrome (RTT) [MIM:312750]
31140 P51608 (MECP2) S C 86 rs61754445 Benign
31141 P51608 (MECP2) D E 97 rs61754449 Disease: Rett syndrome (RTT) [MIM:312750]
31142 P51608 (MECP2) D Y 97 rs61754448 Disease: Rett syndrome (RTT) [MIM:312750]
31143 P51608 (MECP2) L R 100 rs61754451 Disease: Rett syndrome (RTT) [MIM:312750]
31144 P51608 (MECP2) L V 100 rs28935168 Disease: Rett syndrome (RTT) [MIM:312750]
31145 P51608 (MECP2) P H 101 rs61754453 Disease: Rett syndrome (RTT) [MIM:312750]
31146 P51608 (MECP2) P L 101 rs61754453 Disease: Rett syndrome (RTT) [MIM:312750]
31147 P51608 (MECP2) P R 101 rs61754453 Disease: Rett syndrome (RTT) [MIM:312750]
31148 P51608 (MECP2) P S 101 rs61754452 Disease: Rett syndrome (RTT) [MIM:312750]
31149 P51608 (MECP2) P T 101 - Disease: Rett syndrome (RTT) [MIM:312750]
31150 P51608 (MECP2) R Q 106 rs61754457 Disease: Rett syndrome (RTT) [MIM:312750]
31151 P51608 (MECP2) R W 106 rs28934907 Disease: Rett syndrome (RTT) [MIM:312750]
31152 P51608 (MECP2) R G 111 rs61754459 Disease: Rett syndrome (RTT) [MIM:312750]
31153 P51608 (MECP2) Y D 120 rs267608454 Disease: Rett syndrome (RTT) [MIM:312750]
31154 P51608 (MECP2) L F 124 rs61755763 Disease: Rett syndrome (RTT) [MIM:312750]
31155 P51608 (MECP2) Q P 128 rs61748383 Disease: Rett syndrome (RTT) [MIM:312750]
31156 P51608 (MECP2) R C 133 rs28934904 Disease: Rett syndrome (RTT) [MIM:312750]
31157 P51608 (MECP2) R H 133 rs61748389 Disease: Rett syndrome (RTT) [MIM:312750]
31158 P51608 (MECP2) S C 134 rs61748390 Disease: Rett syndrome (RTT) [MIM:312750]
31159 P51608 (MECP2) K E 135 rs61748391 Disease: Rett syndrome (RTT) [MIM:312750]
31160 P51608 (MECP2) E G 137 rs61748392 Disease: Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
31161 P51608 (MECP2) A V 140 rs28934908 Disease: Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
31162 P51608 (MECP2) P R 152 rs61748404 Disease: Rett syndrome (RTT) [MIM:312750]
31163 P51608 (MECP2) F I 155 rs61748406 Disease: Rett syndrome (RTT) [MIM:312750]
31164 P51608 (MECP2) F S 155 rs28934905 Disease: Rett syndrome (RTT) [MIM:312750]
31165 P51608 (MECP2) D G 156 rs61748407 Disease: Rett syndrome (RTT) [MIM:312750]
31166 P51608 (MECP2) T A 158 rs61748411 Disease: Rett syndrome (RTT) [MIM:312750]
31167 P51608 (MECP2) T M 158 rs28934906 Disease: Rett syndrome (RTT) [MIM:312750]
31168 P51608 (MECP2) G V 161 rs61748417 Disease: Rett syndrome (RTT) [MIM:312750]
31169 P51608 (MECP2) R W 167 rs61748420 Disease: Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
31170 P51608 (MECP2) A V 181 rs61749705 Benign
31171 P51608 (MECP2) T S 196 rs61749713 Benign
31172 P51608 (MECP2) T M 197 rs61749714 Benign
31173 P51608 (MECP2) A V 201 rs61748381 Benign
31174 P51608 (MECP2) T M 203 rs61749720 Benign
31175 P51608 (MECP2) K I 210 rs61749730 Disease: Rett syndrome (RTT) [MIM:312750]
31176 P51608 (MECP2) P L 225 rs61749715 Disease: Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
31177 P51608 (MECP2) P R 225 rs61749715 Disease: Rett syndrome (RTT) [MIM:312750]
31178 P51608 (MECP2) T S 228 rs61749738 Benign
31179 P51608 (MECP2) S L 229 rs61749739 Benign
31180 P51608 (MECP2) G A 232 rs61748422 Benign
31181 P51608 (MECP2) P L 251 rs61750229 Benign
31182 P51608 (MECP2) K E 284 rs61750255 Disease: Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
31183 P51608 (MECP2) A P 287 rs61750257 Benign
31184 P51608 (MECP2) S A 291 rs61751360 Benign
31185 P51608 (MECP2) P A 302 rs61751373 Disease: Rett syndrome (RTT) [MIM:312750]
31186 P51608 (MECP2) P H 302 rs61749723 Disease: Rett syndrome (RTT) [MIM:312750]
31187 P51608 (MECP2) P L 302 rs61749723 Disease: Rett syndrome (RTT) [MIM:312750]
31188 P51608 (MECP2) P R 302 rs61749723 Disease: Rett syndrome (RTT) [MIM:312750]
31189 P51608 (MECP2) K N 305 rs1057519543 Disease: -
31190 P51608 (MECP2) K R 305 rs61751441 Disease: Rett syndrome (RTT) [MIM:312750]
31191 P51608 (MECP2) R C 306 rs28935468 Disease: Rett syndrome (RTT) [MIM:312750]
31192 P51608 (MECP2) R H 306 rs61751443 Disease: Rett syndrome (RTT) [MIM:312750]
31193 P51608 (MECP2) P A 322 rs61751449 Disease: Rett syndrome (RTT) [MIM:312750]
31194 P51608 (MECP2) P L 322 rs61751450 Disease: Rett syndrome (RTT) [MIM:312750]
31195 P51608 (MECP2) P S 322 rs61751449 Disease: Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
31196 P51608 (MECP2) R W 344 rs61752361 Disease: Rett syndrome (RTT) [MIM:312750]
31197 P51608 (MECP2) S P 359 rs61752371 Benign
31198 P51608 (MECP2) P S 376 rs61752387 Benign
31199 P51608 (MECP2) P L 388 rs61753006 Benign
31200 P51608 (MECP2) E K 394 rs63094662 Benign
31201 P51608 (MECP2) E K 397 rs56268439 Benign
31202 P51608 (MECP2) P L 402 rs61753014 Benign
31203 P51608 (MECP2) V I 412 rs61753966 Benign
31204 P51608 (MECP2) A T 439 rs61753973 Benign
31205 P51608 (MECP2) A T 444 rs61753975 Benign
31206 P51608 (MECP2) R Q 453 rs61753980 Disease: Mental retardation, X-linked, syndromic, 13 (MRXS13) [MIM:300055]
31207 P51608 (MECP2) P S 480 rs267608636 Benign
31208 P51610 (HCFC1) S N 225 rs318240758 Disease: Mental retardation, X-linked 3 (MRX3) [MIM:309541]
31209 P51610 (HCFC1) S P 1164 rs1051152 Benign
31210 P51610 (HCFC1) S I 2004 rs6643651 Benign
31211 P51617 (IRAK1) R H 194 rs11465830 Benign
31212 P51617 (IRAK1) F S 196 rs1059702 Benign
31213 P51617 (IRAK1) C S 203 rs10127175 Benign
31214 P51617 (IRAK1) T M 398 rs56340948 Benign
31215 P51617 (IRAK1) S L 532 rs1059703 Benign
31216 P51617 (IRAK1) G S 619 rs34112487 Benign
31217 P51617 (IRAK1) T M 625 rs35638718 Benign
31218 P51617 (IRAK1) R W 638 rs56082801 Benign
31219 P51636 (CAV2) Q E 130 rs8940 Benign
31220 P51648 (ALDH3A2) I F 45 - Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31221 P51648 (ALDH3A2) V D 64 rs72547556 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31222 P51648 (ALDH3A2) L R 106 rs72547558 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31223 P51648 (ALDH3A2) P L 114 rs72547559 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31224 P51648 (ALDH3A2) P L 121 rs72547560 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31225 P51648 (ALDH3A2) T M 184 rs72547562 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31226 P51648 (ALDH3A2) T R 184 - Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31227 P51648 (ALDH3A2) G A 185 rs72547563 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31228 P51648 (ALDH3A2) C Y 214 rs72547564 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31229 P51648 (ALDH3A2) C W 226 rs72547565 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31230 P51648 (ALDH3A2) R C 228 rs72547566 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31231 P51648 (ALDH3A2) C Y 237 rs72547567 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31232 P51648 (ALDH3A2) D N 245 rs72547568 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31233 P51648 (ALDH3A2) K N 266 rs72547569 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31234 P51648 (ALDH3A2) Y N 279 rs72547570 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31235 P51648 (ALDH3A2) P S 315 rs72547571 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31236 P51648 (ALDH3A2) M I 328 rs72547572 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31237 P51648 (ALDH3A2) S L 365 rs72547573 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31238 P51648 (ALDH3A2) N S 386 rs72547575 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31239 P51648 (ALDH3A2) G R 406 - Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31240 P51648 (ALDH3A2) H Y 411 - Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31241 P51648 (ALDH3A2) G R 412 rs778115541 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31242 P51648 (ALDH3A2) S N 415 - Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31243 P51648 (ALDH3A2) F S 419 rs72547576 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31244 P51648 (ALDH3A2) R H 423 rs768290318 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31245 P51648 (ALDH3A2) K E 447 rs67939114 Disease: Sjoegren- Larsson syndrome (SLS) [MIM:270200]
31246 P51649 (ALDH5A1) G R 36 rs4646832 Benign
31247 P51649 (ALDH5A1) C F 93 rs765561257 Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31248 P51649 (ALDH5A1) G R 176 rs72552281 Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31249 P51649 (ALDH5A1) H Y 180 rs2760118 Benign
31250 P51649 (ALDH5A1) P L 182 rs3765310 Benign
31251 P51649 (ALDH5A1) C Y 223 rs72552282 Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31252 P51649 (ALDH5A1) T M 233 rs1326526453 Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31253 P51649 (ALDH5A1) A S 237 rs62621664 Benign
31254 P51649 (ALDH5A1) N S 255 rs145087265 Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31255 P51649 (ALDH5A1) G E 268 rs375628463 Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31256 P51649 (ALDH5A1) N K 335 rs72552283 Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31257 P51649 (ALDH5A1) N S 372 - Benign
31258 P51649 (ALDH5A1) P L 382 - Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31259 P51649 (ALDH5A1) P Q 382 - Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31260 P51649 (ALDH5A1) V I 406 rs143741652 Benign
31261 P51649 (ALDH5A1) G D 409 rs118203984 Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31262 P51649 (ALDH5A1) V E 487 - Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31263 P51649 (ALDH5A1) G R 533 rs72552284 Disease: Succinic semialdehyde dehydrogenas e deficiency (SSADHD) [MIM:271980]
31264 P51654 (GPC3) W R 296 rs104894854 Disease: Simpson- Golabi- Behmel syndrome 1 (SGBS1) [MIM:312870]
31265 P51654 (GPC3) V M 429 rs11539789 Benign
31266 P51659 (HSD17B4) G S 16 rs137853096 Disease: D-bifunction al protein deficiency (DBPD) [MIM:261515]
31267 P51659 (HSD17B4) F L 90 rs28943588 Benign
31268 P51659 (HSD17B4) R H 106 rs25640 Benign
31269 P51659 (HSD17B4) R P 106 rs25640 Disease: D-bifunction al protein deficiency (DBPD) [MIM:261515]
31270 P51659 (HSD17B4) K N 140 rs28943589 Benign
31271 P51659 (HSD17B4) Y C 217 rs387906825 Disease: Perrault syndrome 1 (PRLTS1) [MIM:233400]
31272 P51659 (HSD17B4) T S 292 rs1143650 Benign
31273 P51659 (HSD17B4) A V 427 rs28943590 Benign
31274 P51659 (HSD17B4) N Y 457 rs137853097 Disease: D-bifunction al protein deficiency (DBPD) [MIM:261515]
31275 P51659 (HSD17B4) A T 491 rs28943591 Benign
31276 P51659 (HSD17B4) W R 511 rs11539471 Benign
31277 P51659 (HSD17B4) I V 559 rs11205 Benign
31278 P51659 (HSD17B4) A S 606 rs15228 Benign
31279 P51659 (HSD17B4) T I 687 rs28943592 Benign
31280 P51659 (HSD17B4) M V 728 rs28943594 Benign
31281 P51671 (CCL11) L P 7 - Benign
31282 P51671 (CCL11) A T 23 rs1129844 Benign
31283 P51671 (CCL11) R S 51 - Benign
31284 P51671 (CCL11) K R 79 - Benign
31285 P51671 (CCL11) K T 86 rs34262946 Benign
31286 P51674 (GPM6A) V L 242 rs1049820 Benign
31287 P51677 (CCR3) G D 21 rs4987125 Benign
31288 P51677 (CCR3) P L 39 rs5742906 Benign
31289 P51677 (CCR3) C S 218 - Benign
31290 P51679 (CCR4) L V 130 - Benign
31291 P51679 (CCR4) C S 178 rs753825374 Benign
31292 P51681 (CCR5) I L 12 - Benign
31293 P51681 (CCR5) C S 20 rs145061115 Benign
31294 P51681 (CCR5) A S 29 rs1800939 Benign
31295 P51681 (CCR5) R H 31 rs56340326 Benign
31296 P51681 (CCR5) I F 42 rs1475319259 Benign
31297 P51681 (CCR5) L Q 55 rs1799863 Benign
31298 P51681 (CCR5) R S 60 rs1800940 Benign
31299 P51681 (CCR5) Y H 68 rs758090461 Benign
31300 P51681 (CCR5) A V 73 rs56198941 Benign
31301 P51681 (CCR5) D N 95 rs149975182 Benign
31302 P51681 (CCR5) G R 106 rs183662584 Benign
31303 P51681 (CCR5) C R 178 rs199824195 Benign
31304 P51681 (CCR5) S L 215 rs1017863136 Benign
31305 P51681 (CCR5) R Q 223 rs1800452 Benign
31306 P51681 (CCR5) L P 246 rs143181119 Benign
31307 P51681 (CCR5) T M 288 rs534088482 Benign
31308 P51681 (CCR5) G V 301 rs1800943 Benign
31309 P51681 (CCR5) A V 335 rs1800944 Benign
31310 P51681 (CCR5) Y F 339 rs1800945 Benign
31311 P51685 (CCR8) A G 27 rs2853699 Benign
31312 P51686 (CCR9) I V 92 rs45530037 Benign
31313 P51686 (CCR9) M V 284 rs12721497 Benign
31314 P51687 (SUOX) R Q 217 rs121908007 Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31315 P51687 (SUOX) I L 258 - Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31316 P51687 (SUOX) A D 265 rs121908008 Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31317 P51687 (SUOX) R Q 268 rs1041681662 Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31318 P51687 (SUOX) G S 362 rs757559168 Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31319 P51687 (SUOX) R H 366 rs776690106 Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31320 P51687 (SUOX) K R 379 rs777114729 Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31321 P51687 (SUOX) Q R 396 - Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31322 P51687 (SUOX) S Y 427 - Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31323 P51687 (SUOX) W R 450 - Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31324 P51687 (SUOX) G D 530 rs121908009 Disease: Sulfite oxidase deficiency, isolated (ISOD) [MIM:272300]
31325 P51688 (SGSH) D E 32 rs139850991 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31326 P51688 (SGSH) D G 32 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31327 P51688 (SGSH) Y N 40 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31328 P51688 (SGSH) N K 42 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31329 P51688 (SGSH) A T 44 rs1057521146 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31330 P51688 (SGSH) S W 66 rs104894637 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31331 P51688 (SGSH) R C 74 rs104894636 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31332 P51688 (SGSH) R H 74 rs778336949 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31333 P51688 (SGSH) T P 79 rs779703983 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31334 P51688 (SGSH) H Y 84 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31335 P51688 (SGSH) Q R 85 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31336 P51688 (SGSH) M T 88 rs1299601360 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31337 P51688 (SGSH) G R 90 rs774010006 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31338 P51688 (SGSH) S R 106 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31339 P51688 (SGSH) G R 122 rs761607612 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31340 P51688 (SGSH) P L 128 rs104894642 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31341 P51688 (SGSH) V M 131 rs370636303 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31342 P51688 (SGSH) T M 139 rs775112689 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31343 P51688 (SGSH) L P 146 rs749358773 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31344 P51688 (SGSH) R Q 150 rs104894638 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31345 P51688 (SGSH) R W 150 rs1479831530 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31346 P51688 (SGSH) L P 163 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31347 P51688 (SGSH) D N 179 rs774773010 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31348 P51688 (SGSH) R C 182 rs529855742 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31349 P51688 (SGSH) G R 191 rs753666460 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31350 P51688 (SGSH) F L 193 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31351 P51688 (SGSH) R P 206 rs104894643 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31352 P51688 (SGSH) V A 226 - Benign
31353 P51688 (SGSH) P R 227 rs774602372 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31354 P51688 (SGSH) A G 234 rs113641837 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31355 P51688 (SGSH) D N 235 rs753472891 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31356 P51688 (SGSH) D V 235 rs763800418 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31357 P51688 (SGSH) R H 245 rs104894635 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31358 P51688 (SGSH) G A 251 rs144461610 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31359 P51688 (SGSH) D N 273 rs1046551417 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31360 P51688 (SGSH) P S 288 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31361 P51688 (SGSH) P S 293 rs143947056 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31362 P51688 (SGSH) P T 293 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31363 P51688 (SGSH) S P 298 rs138504221 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31364 P51688 (SGSH) E V 300 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31365 P51688 (SGSH) R L 304 rs745884647 Benign
31366 P51688 (SGSH) Q P 307 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31367 P51688 (SGSH) T A 321 rs758756630 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31368 P51688 (SGSH) I S 322 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31369 P51688 (SGSH) A P 354 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31370 P51688 (SGSH) E K 355 rs766938111 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31371 P51688 (SGSH) V I 361 rs9894254 Benign
31372 P51688 (SGSH) S R 364 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31373 P51688 (SGSH) E K 369 rs104894640 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31374 P51688 (SGSH) M I 372 rs58786455 Benign
31375 P51688 (SGSH) Y H 374 rs1237611456 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31376 P51688 (SGSH) R C 377 rs772311757 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31377 P51688 (SGSH) R H 377 rs746037899 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31378 P51688 (SGSH) Q R 380 rs144143780 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31379 P51688 (SGSH) L R 386 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31380 P51688 (SGSH) V M 387 rs62620232 Benign
31381 P51688 (SGSH) N K 389 rs764057581 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31382 P51688 (SGSH) M I 394 rs34297805 Benign
31383 P51688 (SGSH) R Q 433 rs104894641 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31384 P51688 (SGSH) R W 433 rs777267343 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31385 P51688 (SGSH) E K 447 rs104894639 Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31386 P51688 (SGSH) R H 456 rs7503034 Benign
31387 P51688 (SGSH) V F 486 - Disease: Mucopolysacc haridosis 3A (MPS3A) [MIM:252900]
31388 P51689 (ARSD) S C 224 rs211653 Benign
31389 P51689 (ARSD) V I 500 rs2229557 Benign
31390 P51689 (ARSD) M T 564 rs2228431 Benign
31391 P51690 (ARSL) R S 12 rs122460151 Disease: Chondrodyspl asia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
31392 P51690 (ARSL) I N 80 - Disease: Chondrodyspl asia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
31393 P51690 (ARSL) R P 111 rs122460153 Disease: Chondrodyspl asia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
31394 P51690 (ARSL) G R 117 rs122460152 Disease: Chondrodyspl asia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
31395 P51690 (ARSL) G V 137 rs80338711 Disease: Chondrodyspl asia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
31396 P51690 (ARSL) R H 183 rs34412194 Benign
31397 P51690 (ARSL) G R 245 rs122460154 Disease: Chondrodyspl asia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
31398 P51690 (ARSL) G S 424 rs35143646 Benign
31399 P51690 (ARSL) T M 481 rs80338713 Disease: Chondrodyspl asia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
31400 P51690 (ARSL) C Y 492 rs122460155 Disease: Chondrodyspl asia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
31401 P51690 (ARSL) P S 578 rs28935474 Disease: Chondrodyspl asia punctata 1, X-linked recessive (CDPX1) [MIM:302950]
31402 P51692 (STAT5B) A V 130 rs2277619 Benign
31403 P51692 (STAT5B) A P 630 rs121908501 Disease: Growth hormone insensitivit y with immunodefici ency (GHII) [MIM:245590]
31404 P51692 (STAT5B) F S 646 - Disease: Growth hormone insensitivit y with immunodefici ency (GHII) [MIM:245590]
31405 P51787 (KCNQ1) P T 73 rs199472676 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31406 P51787 (KCNQ1) E G 115 rs199472679 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31407 P51787 (KCNQ1) C Y 122 rs199472681 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31408 P51787 (KCNQ1) V I 133 rs199473449 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31409 P51787 (KCNQ1) C F 136 rs199472686 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31410 P51787 (KCNQ1) S G 140 rs120074192 Disease: Atrial fibrillation , familial, 3 (ATFB3) [MIM:607554]
31411 P51787 (KCNQ1) F C 157 rs199472690 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31412 P51787 (KCNQ1) E K 160 rs199473453 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31413 P51787 (KCNQ1) G R 168 rs179489 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31414 P51787 (KCNQ1) R C 174 rs199472696 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31415 P51787 (KCNQ1) R H 174 rs199472697 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31416 P51787 (KCNQ1) A P 178 rs120074177 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31417 P51787 (KCNQ1) A T 178 rs120074177 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31418 P51787 (KCNQ1) Y S 184 rs199473397 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31419 P51787 (KCNQ1) G R 189 rs104894252 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31420 P51787 (KCNQ1) R Q 190 rs120074178 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31421 P51787 (KCNQ1) L P 191 rs199473401 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31422 P51787 (KCNQ1) A P 194 rs199472699 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31423 P51787 (KCNQ1) I F 204 rs199472703 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31424 P51787 (KCNQ1) I M 204 rs199473455 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31425 P51787 (KCNQ1) V M 215 rs17215479 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31426 P51787 (KCNQ1) G R 216 - Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31427 P51787 (KCNQ1) S L 225 rs199473456 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31428 P51787 (KCNQ1) R C 231 rs199473457 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31429 P51787 (KCNQ1) R H 231 rs199472709 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31430 P51787 (KCNQ1) I N 235 rs199472710 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31431 P51787 (KCNQ1) D N 242 rs199472712 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31432 P51787 (KCNQ1) R C 243 rs199472713 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31433 P51787 (KCNQ1) R H 243 rs120074196 Disease: Jervell and Lange- Nielsen syndrome 1 (JLNS1) [MIM:220400]
31434 P51787 (KCNQ1) R P 243 rs120074196 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31435 P51787 (KCNQ1) W F 248 rs397508123 Disease: Jervell and Lange- Nielsen syndrome 1 (JLNS1) [MIM:220400]
31436 P51787 (KCNQ1) W R 248 rs199473459 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31437 P51787 (KCNQ1) L H 250 rs199472715 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31438 P51787 (KCNQ1) V M 254 rs120074179 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31439 P51787 (KCNQ1) R C 259 rs199472719 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31440 P51787 (KCNQ1) R L 259 rs199472720 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31441 P51787 (KCNQ1) E D 261 rs199472721 Disease: Jervell and Lange- Nielsen syndrome 1 (JLNS1) [MIM:220400]
31442 P51787 (KCNQ1) E K 261 rs199472722 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31443 P51787 (KCNQ1) L V 262 rs199472723 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31444 P51787 (KCNQ1) L P 266 rs199473460 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31445 P51787 (KCNQ1) G D 269 rs120074194 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31446 P51787 (KCNQ1) G S 269 rs120074193 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31447 P51787 (KCNQ1) G D 272 rs199472726 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31448 P51787 (KCNQ1) L F 273 rs120074180 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31449 P51787 (KCNQ1) L R 273 rs199472727 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31450 P51787 (KCNQ1) F S 275 rs199472729 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31451 P51787 (KCNQ1) S L 277 rs199472730 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31452 P51787 (KCNQ1) Y H 278 rs199472731 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31453 P51787 (KCNQ1) V E 280 rs199473462 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31454 P51787 (KCNQ1) Y C 281 rs199472732 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31455 P51787 (KCNQ1) E K 290 rs199473464 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31456 P51787 (KCNQ1) G D 292 rs199472736 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31457 P51787 (KCNQ1) R C 293 rs199472737 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31458 P51787 (KCNQ1) F S 296 rs199472738 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31459 P51787 (KCNQ1) A T 300 rs120074187 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31460 P51787 (KCNQ1) A V 302 rs193922365 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31461 P51787 (KCNQ1) W R 304 rs199473466 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31462 P51787 (KCNQ1) W S 305 rs120074186 Disease: Jervell and Lange- Nielsen syndrome 1 (JLNS1) [MIM:220400]
31463 P51787 (KCNQ1) G V 306 rs199472742 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31464 P51787 (KCNQ1) V L 307 rs120074195 Disease: Short QT syndrome 2 (SQT2) [MIM:609621]
31465 P51787 (KCNQ1) T R 309 rs199472743 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31466 P51787 (KCNQ1) V I 310 rs199472745 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31467 P51787 (KCNQ1) T I 311 rs199472746 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31468 P51787 (KCNQ1) T I 312 rs120074182 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31469 P51787 (KCNQ1) I M 313 rs199472747 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31470 P51787 (KCNQ1) G D 314 rs199472748 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31471 P51787 (KCNQ1) G R 314 rs120074184 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31472 P51787 (KCNQ1) G S 314 rs120074184 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31473 P51787 (KCNQ1) Y C 315 rs74462309 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31474 P51787 (KCNQ1) Y S 315 rs74462309 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31475 P51787 (KCNQ1) G E 316 rs199472749 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31476 P51787 (KCNQ1) G R 316 rs104894255 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31477 P51787 (KCNQ1) D N 317 rs199472751 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31478 P51787 (KCNQ1) K N 318 rs199472752 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31479 P51787 (KCNQ1) P A 320 rs199472753 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31480 P51787 (KCNQ1) P H 320 rs199473470 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31481 P51787 (KCNQ1) T A 322 rs199472754 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31482 P51787 (KCNQ1) T M 322 rs199472755 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31483 P51787 (KCNQ1) G R 325 rs199472756 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31484 P51787 (KCNQ1) F S 339 rs199472759 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31485 P51787 (KCNQ1) A E 341 rs12720459 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31486 P51787 (KCNQ1) A V 341 rs12720459 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31487 P51787 (KCNQ1) L F 342 rs199472760 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31488 P51787 (KCNQ1) P L 343 rs199472761 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31489 P51787 (KCNQ1) P S 343 rs199472762 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31490 P51787 (KCNQ1) A E 344 rs199472763 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31491 P51787 (KCNQ1) A V 344 rs199472763 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31492 P51787 (KCNQ1) G E 345 rs120074183 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31493 P51787 (KCNQ1) G R 345 rs199473471 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31494 P51787 (KCNQ1) S W 349 rs199472765 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31495 P51787 (KCNQ1) G R 350 rs199472824 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31496 P51787 (KCNQ1) F S 351 rs199473402 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31497 P51787 (KCNQ1) L P 353 rs199473403 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31498 P51787 (KCNQ1) R G 360 rs199473406 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31499 P51787 (KCNQ1) K R 362 rs12720458 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31500 P51787 (KCNQ1) R P 366 rs199473410 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31501 P51787 (KCNQ1) R Q 366 rs199473410 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31502 P51787 (KCNQ1) R W 366 rs199473411 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31503 P51787 (KCNQ1) A T 371 rs199473412 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31504 P51787 (KCNQ1) S P 373 rs199472766 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31505 P51787 (KCNQ1) L H 374 rs199472767 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31506 P51787 (KCNQ1) R S 380 rs199472771 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31507 P51787 (KCNQ1) S Y 389 rs199472773 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31508 P51787 (KCNQ1) T I 391 rs199473474 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31509 P51787 (KCNQ1) W R 392 rs199472774 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31510 P51787 (KCNQ1) K N 393 rs12720457 Benign
31511 P51787 (KCNQ1) V M 417 rs267607197 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31512 P51787 (KCNQ1) P R 448 rs12720449 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31513 P51787 (KCNQ1) R W 452 rs140452381 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31514 P51787 (KCNQ1) H Y 455 rs199473476 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31515 P51787 (KCNQ1) V G 524 rs199472790 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31516 P51787 (KCNQ1) A T 525 rs120074188 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31517 P51787 (KCNQ1) K E 526 rs199472792 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31518 P51787 (KCNQ1) R W 533 rs199472793 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31519 P51787 (KCNQ1) R W 539 rs199472795 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31520 P51787 (KCNQ1) S L 546 rs199473480 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31521 P51787 (KCNQ1) R C 555 rs120074185 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31522 P51787 (KCNQ1) R H 555 rs199472800 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31523 P51787 (KCNQ1) K E 557 rs199472801 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31524 P51787 (KCNQ1) S F 566 rs199472804 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31525 P51787 (KCNQ1) S Y 566 rs199472804 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31526 P51787 (KCNQ1) I S 567 rs199472805 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31527 P51787 (KCNQ1) I T 567 rs199472805 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31528 P51787 (KCNQ1) G R 568 rs199472807 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31529 P51787 (KCNQ1) R C 583 rs17221854 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31530 P51787 (KCNQ1) N D 586 rs199472812 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31531 P51787 (KCNQ1) T M 587 rs120074189 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31532 P51787 (KCNQ1) G D 589 rs120074190 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31533 P51787 (KCNQ1) A T 590 rs199472813 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31534 P51787 (KCNQ1) R H 591 rs199472814 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31535 P51787 (KCNQ1) R Q 594 rs199472815 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31536 P51787 (KCNQ1) L M 619 rs199472819 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31537 P51787 (KCNQ1) G S 626 rs199472821 Disease: Long QT syndrome 1 (LQT1) [MIM:192500]
31538 P51787 (KCNQ1) G S 643 rs1800172 Benign
31539 P51788 (CLCN2) M K 22 - Disease: Hyperaldoste ronism, familial, 2 (HALD2) [MIM:605635]
31540 P51788 (CLCN2) G D 24 rs1085307938 Disease: Hyperaldoste ronism, familial, 2 (HALD2) [MIM:605635]
31541 P51788 (CLCN2) Y N 26 rs1553857113 Disease: Hyperaldoste ronism, familial, 2 (HALD2) [MIM:605635]
31542 P51788 (CLCN2) P R 48 rs115661422 Benign
31543 P51788 (CLCN2) R H 68 rs61729156 Benign
31544 P51788 (CLCN2) R Q 172 rs1293789661 Disease: Hyperaldoste ronism, familial, 2 (HALD2) [MIM:605635]
31545 P51788 (CLCN2) G A 199 rs863225248 Benign
31546 P51788 (CLCN2) R Q 235 rs71318369 Disease: Juvenile myoclonic epilepsy 8 (EJM8) [MIM:607628]
31547 P51788 (CLCN2) A V 500 rs587777111 Disease: Leukoencepha lopathy with ataxia (LKPAT) [MIM:615651]
31548 P51788 (CLCN2) R Q 577 rs137852682 Disease: Epilepsy, idiopathic generalized 11 (EIG11) [MIM:607628]
31549 P51788 (CLCN2) R C 644 rs148545588 Benign
31550 P51788 (CLCN2) R Q 646 rs115961753 Benign
31551 P51788 (CLCN2) T S 668 rs9820367 Benign
31552 P51788 (CLCN2) E D 718 rs2228292 Benign
31553 P51788 (CLCN2) R W 725 rs114702742 Benign
31554 P51788 (CLCN2) R H 747 rs144164281 Benign
31555 P51788 (CLCN2) S R 865 rs1553853557 Disease: Hyperaldoste ronism, familial, 2 (HALD2) [MIM:605635]
31556 P51793 (CLCN4) G S 78 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31557 P51793 (CLCN4) V G 212 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31558 P51793 (CLCN4) L P 221 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31559 P51793 (CLCN4) L V 221 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31560 P51793 (CLCN4) V M 275 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31561 P51793 (CLCN4) S L 534 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31562 P51793 (CLCN4) V M 536 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31563 P51793 (CLCN4) G R 544 rs587777161 Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31564 P51793 (CLCN4) A V 555 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31565 P51793 (CLCN4) R W 718 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31566 P51793 (CLCN4) G R 731 - Disease: Raynaud- Claes syndrome (MRXSRC) [MIM:300114]
31567 P51795 (CLCN5) G V 127 rs151340629 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31568 P51795 (CLCN5) M I 212 rs34800648 Benign
31569 P51795 (CLCN5) G D 249 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31570 P51795 (CLCN5) L R 270 rs151340622 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31571 P51795 (CLCN5) S L 273 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31572 P51795 (CLCN5) G A 282 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31573 P51795 (CLCN5) C R 289 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31574 P51795 (CLCN5) C R 291 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31575 P51795 (CLCN5) L P 295 rs273585645 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31576 P51795 (CLCN5) S L 314 rs151340626 Disease: Hypophosphat emic rickets, X-linked recessive (XLRHR) [MIM:300554]
31577 P51795 (CLCN5) G V 330 rs151340630 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31578 P51795 (CLCN5) E A 337 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31579 P51795 (CLCN5) S G 340 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31580 P51795 (CLCN5) S R 340 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31581 P51795 (CLCN5) Y C 342 rs273585644 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31582 P51795 (CLCN5) F L 343 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31583 P51795 (CLCN5) L F 348 rs273585648 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31584 P51795 (CLCN5) R P 350 rs151340628 Disease: Low molecular weight proteinuria with hypercalciur ia and nephrocalcin osis (LMWPHN) [MIM:308990]
31585 P51795 (CLCN5) N K 410 rs273585646 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31586 P51795 (CLCN5) G D 532 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31587 P51795 (CLCN5) L P 539 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31588 P51795 (CLCN5) G E 576 rs151340625 Disease: Nephrolithia sis 1 (NPHL1) [MIM:310468]
31589 P51795 (CLCN5) G R 582 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31590 P51795 (CLCN5) G E 583 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31591 P51795 (CLCN5) G R 583 rs273585647 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31592 P51795 (CLCN5) R W 586 rs797044812 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31593 P51795 (CLCN5) S P 590 rs151340623 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31594 P51795 (CLCN5) I K 594 - Disease: Low molecular weight proteinuria with hypercalciur ia and nephrocalcin osis (LMWPHN) [MIM:308990]
31595 P51795 (CLCN5) E D 597 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31596 P51795 (CLCN5) S N 615 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31597 P51795 (CLCN5) K E 616 - Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31598 P51795 (CLCN5) W G 617 rs273585650 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31599 P51795 (CLCN5) T S 727 rs144207967 Disease: Nephrolithia sis 2 (NPHL2) [MIM:300009]
31600 P51797 (CLCN6) E G 198 rs198400 Benign
31601 P51798 (CLCN7) L P 132 - Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31602 P51798 (CLCN7) N S 214 rs367567630 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31603 P51798 (CLCN7) G R 215 rs397515539 Disease: Osteopetrosi s, autosomal dominant 2 (OPTA2) [MIM:166600]
31604 P51798 (CLCN7) G R 240 rs1360480518 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31605 P51798 (CLCN7) P R 249 - Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31606 P51798 (CLCN7) I F 261 rs121434436 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31607 P51798 (CLCN7) R Q 286 rs760956030 Disease: Osteopetrosi s, autosomal dominant 2 (OPTA2) [MIM:166600]
31608 P51798 (CLCN7) F L 318 - Disease: Osteopetrosi s, autosomal dominant 2 (OPTA2) [MIM:166600]
31609 P51798 (CLCN7) M V 332 - Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31610 P51798 (CLCN7) R Q 403 rs765444328 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31611 P51798 (CLCN7) V M 418 rs12926089 Benign
31612 P51798 (CLCN7) L F 490 - Disease: Osteopetrosi s, autosomal dominant 2 (OPTA2) [MIM:166600]
31613 P51798 (CLCN7) G R 521 rs368190250 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31614 P51798 (CLCN7) R Q 526 rs139329533 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31615 P51798 (CLCN7) R W 526 rs1233085260 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31616 P51798 (CLCN7) L P 549 - Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31617 P51798 (CLCN7) L P 614 rs1064794323 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31618 P51798 (CLCN7) L P 651 - Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31619 P51798 (CLCN7) G V 677 - Disease: Osteopetrosi s, autosomal dominant 2 (OPTA2) [MIM:166600]
31620 P51798 (CLCN7) Y C 715 - Disease: Hypopigmenta tion, organomegaly , and delayed myelination and development (HOD) [MIM:618541]
31621 P51798 (CLCN7) S F 744 rs1320932332 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31622 P51798 (CLCN7) F L 758 rs760740877 Disease: Osteopetrosi s, autosomal dominant 2 (OPTA2) [MIM:166600]
31623 P51798 (CLCN7) R Q 762 rs121434433 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31624 P51798 (CLCN7) R W 762 rs1490598538 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31625 P51798 (CLCN7) L P 766 rs121434434 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31626 P51798 (CLCN7) R P 767 - Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31627 P51798 (CLCN7) R Q 767 rs772579858 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31628 P51798 (CLCN7) R W 767 rs121434435 Disease: Osteopetrosi s, autosomal recessive 4 (OPTB4) [MIM:611490]
31629 P51800 (CLCNKA) R H 8 rs9442189 Benign
31630 P51800 (CLCNKA) R H 45 rs35932996 Benign
31631 P51800 (CLCNKA) M I 67 rs17855678 Benign
31632 P51800 (CLCNKA) W C 80 rs121909137 Disease: Bartter syndrome 4B, neonatal, with sensorineura l deafness (BARTS4B) [MIM:613090]
31633 P51800 (CLCNKA) R G 83 rs10927887 Benign
31634 P51800 (CLCNKA) Y F 315 rs12126269 Benign
31635 P51800 (CLCNKA) H Q 357 rs79751787 Benign
31636 P51800 (CLCNKA) A T 447 rs1805152 Benign
31637 P51800 (CLCNKA) R W 534 rs12140223 Benign
31638 P51800 (CLCNKA) P L 683 rs12746751 Benign
31639 P51801 (CLCNKB) F L 4 rs34851419 Benign
31640 P51801 (CLCNKB) R L 27 rs2015352 Benign
31641 P51801 (CLCNKB) S R 88 rs5256 Benign
31642 P51801 (CLCNKB) V I 104 rs35530360 Benign
31643 P51801 (CLCNKB) P L 124 rs121909131 Disease: Bartter syndrome 3 (BARTS3) [MIM:607364]
31644 P51801 (CLCNKB) N H 143 rs5259 Benign
31645 P51801 (CLCNKB) A T 204 rs121909132 Disease: Bartter syndrome 3 (BARTS3) [MIM:607364]
31646 P51801 (CLCNKB) A G 214 rs1889789 Benign
31647 P51801 (CLCNKB) A V 287 rs7367494 Benign
31648 P51801 (CLCNKB) V L 334 rs5251 Benign
31649 P51801 (CLCNKB) A D 349 rs121909134 Disease: Bartter syndrome 3 (BARTS3) [MIM:607364]
31650 P51801 (CLCNKB) R W 395 rs34255952 Benign
31651 P51801 (CLCNKB) I V 419 rs6650119 Benign
31652 P51801 (CLCNKB) Y H 432 rs121909135 Disease: Bartter syndrome 3 (BARTS3) [MIM:607364]
31653 P51801 (CLCNKB) R C 438 rs121909133 Disease: Bartter syndrome 3 (BARTS3) [MIM:607364]
31654 P51801 (CLCNKB) T S 481 rs12140311 Benign
31655 P51801 (CLCNKB) M T 562 rs5253 Benign
31656 P51801 (CLCNKB) K E 578 rs2275166 Benign
31657 P51801 (CLCNKB) S L 660 rs5255 Benign
31658 P51805 (PLXNA3) G S 384 rs34585333 Benign
31659 P51805 (PLXNA3) G S 413 rs36115591 Benign
31660 P51805 (PLXNA3) D E 863 rs5945430 Benign
31661 P51810 (GPR143) R C 5 rs62635289 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31662 P51810 (GPR143) G D 35 rs62635018 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31663 P51810 (GPR143) L R 39 rs62635019 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31664 P51810 (GPR143) D N 78 rs62635024 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31665 P51810 (GPR143) D V 78 rs62635025 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31666 P51810 (GPR143) G V 81 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31667 P51810 (GPR143) G D 84 rs62635027 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31668 P51810 (GPR143) G R 84 rs62635026 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31669 P51810 (GPR143) S F 89 rs137852298 Disease: Nystagmus congenital X-linked 6 (NYS6) [MIM:300814]
31670 P51810 (GPR143) C G 116 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31671 P51810 (GPR143) C R 116 rs62635030 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31672 P51810 (GPR143) C S 116 rs62635029 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31673 P51810 (GPR143) C W 116 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31674 P51810 (GPR143) G E 118 rs62635031 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31675 P51810 (GPR143) Q R 124 rs62635032 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31676 P51810 (GPR143) W R 132 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31677 P51810 (GPR143) W R 133 rs137852296 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31678 P51810 (GPR143) L P 134 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31679 P51810 (GPR143) A V 138 rs62635762 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31680 P51810 (GPR143) S N 152 rs58933950 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31681 P51810 (GPR143) T N 166 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31682 P51810 (GPR143) A D 173 rs62635035 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31683 P51810 (GPR143) E K 185 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31684 P51810 (GPR143) R P 186 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31685 P51810 (GPR143) R W 186 rs199899645 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31686 P51810 (GPR143) G V 229 rs62635037 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31687 P51810 (GPR143) T K 232 rs137852297 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31688 P51810 (GPR143) E K 233 rs62635038 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31689 P51810 (GPR143) E K 235 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31690 P51810 (GPR143) I V 244 rs62635040 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31691 P51810 (GPR143) I N 261 - Disease: Albinism ocular 1 (OA1) [MIM:300500]
31692 P51810 (GPR143) E G 271 rs62635043 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31693 P51810 (GPR143) W C 292 rs62635046 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31694 P51810 (GPR143) W G 292 rs62635045 Disease: Albinism ocular 1 (OA1) [MIM:300500]
31695 P51811 (XK) R G 222 - Disease: McLeod syndrome (MLS) [MIM:300842]
31696 P51811 (XK) C R 294 rs28933690 Disease: McLeod syndrome (MLS) [MIM:300842]
31697 P51811 (XK) E K 327 - Disease: McLeod syndrome (MLS) [MIM:300842]
31698 P51812 (RPS6KA3) I S 38 rs56218010 Benign
31699 P51812 (RPS6KA3) G V 75 rs122454124 Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31700 P51812 (RPS6KA3) V F 82 rs122454126 Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31701 P51812 (RPS6KA3) R W 114 rs122454127 Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31702 P51812 (RPS6KA3) T S 115 rs387906703 Disease: Mental retardation, X-linked 19 (MRX19) [MIM:300844]
31703 P51812 (RPS6KA3) H Q 127 - Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31704 P51812 (RPS6KA3) D Y 154 - Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31705 P51812 (RPS6KA3) I K 189 rs122454130 Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31706 P51812 (RPS6KA3) A V 225 rs879027948 Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31707 P51812 (RPS6KA3) S A 227 rs122454125 Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31708 P51812 (RPS6KA3) F S 268 rs122454131 Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31709 P51812 (RPS6KA3) R W 383 rs122454129 Disease: Mental retardation, X-linked 19 (MRX19) [MIM:300844]
31710 P51812 (RPS6KA3) G D 431 - Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31711 P51812 (RPS6KA3) R C 723 rs35026425 Benign
31712 P51812 (RPS6KA3) R Q 729 rs28935171 Disease: Coffin-Lowry syndrome (CLS) [MIM:303600]
31713 P51813 (BMX) S L 284 rs35353387 Benign
31714 P51814 (ZNF41) I R 167 rs17147624 Benign
31715 P51814 (ZNF41) D E 357 rs2498170 Benign
31716 P51816 (AFF2) L M 1185 rs12858959 Benign
31717 P51817 (PRKX) V A 43 rs3752362 Benign
31718 P51825 (AFF1) P A 209 rs3733378 Benign
31719 P51826 (AFF3) N S 358 rs4851223 Benign
31720 P51826 (AFF3) N S 494 rs1047265 Benign
31721 P51841 (GUCY2F) S C 40 rs34228145 Benign
31722 P51841 (GUCY2F) I N 160 rs33971675 Benign
31723 P51841 (GUCY2F) R W 230 rs33973457 Benign
31724 P51841 (GUCY2F) L P 284 rs12008095 Benign
31725 P51841 (GUCY2F) R Q 296 rs502209 Benign
31726 P51841 (GUCY2F) R Q 305 rs55966326 Benign
31727 P51841 (GUCY2F) Y C 308 rs16985750 Benign
31728 P51841 (GUCY2F) Q H 380 rs2272925 Benign
31729 P51841 (GUCY2F) G R 434 rs56293008 Benign
31730 P51841 (GUCY2F) R Q 628 rs7883913 Benign
31731 P51841 (GUCY2F) V L 677 rs35474112 Benign
31732 P51841 (GUCY2F) E K 794 rs35726803 Benign
31733 P51841 (GUCY2F) G D 872 rs148663380 Benign
31734 P51841 (GUCY2F) A V 1010 rs55735218 Benign
31735 P51843 (NR0B1) R P 267 rs104894888 Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31736 P51843 (NR0B1) L P 278 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31737 P51843 (NR0B1) V G 287 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31738 P51843 (NR0B1) W C 291 rs28935482 Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31739 P51843 (NR0B1) L P 295 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31740 P51843 (NR0B1) L P 297 rs104894907 Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31741 P51843 (NR0B1) A P 300 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31742 P51843 (NR0B1) A V 300 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31743 P51843 (NR0B1) E K 377 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31744 P51843 (NR0B1) Y D 380 rs104894900 Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31745 P51843 (NR0B1) L H 381 rs104894899 Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31746 P51843 (NR0B1) K N 382 rs104894896 Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31747 P51843 (NR0B1) V G 385 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31748 P51843 (NR0B1) R G 425 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31749 P51843 (NR0B1) R T 425 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31750 P51843 (NR0B1) I S 439 rs104894897 Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31751 P51843 (NR0B1) N I 440 rs28935481 Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31752 P51843 (NR0B1) L R 466 - Disease: Adrenal hypoplasia, congenital (AHC) [MIM:300200]
31753 P51854 (TKTL1) L F 24 rs17855509 Benign
31754 P51854 (TKTL1) I T 152 rs17852259 Benign
31755 P51857 (AKR1D1) L F 106 rs121918343 Disease: Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
31756 P51857 (AKR1D1) P R 133 rs267606649 Disease: Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
31757 P51857 (AKR1D1) P L 198 rs121918342 Disease: Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
31758 P51857 (AKR1D1) G E 223 rs1228918719 Disease: Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
31759 P51857 (AKR1D1) R C 261 rs267606650 Disease: Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
31760 P51858 (HDGF) P L 201 rs4399146 Benign
31761 P51878 (CASP5) K N 19 rs45483102 Benign
31762 P51878 (CASP5) L W 26 rs1792778 Benign
31763 P51878 (CASP5) F L 29 rs3181320 Benign
31764 P51878 (CASP5) L R 75 rs45585331 Benign
31765 P51878 (CASP5) T A 106 rs507879 Benign
31766 P51878 (CASP5) R H 168 rs3181179 Benign
31767 P51878 (CASP5) V L 217 rs3181326 Benign
31768 P51878 (CASP5) R H 298 rs45464699 Benign
31769 P51878 (CASP5) L V 334 rs523104 Benign
31770 P51878 (CASP5) E K 353 rs45619739 Benign
31771 P51878 (CASP5) E Q 382 rs45458695 Benign
31772 P51884 (LUM) L P 199 rs147975710 Benign
31773 P51888 (PRELP) G R 33 rs41313926 Benign
31774 P51888 (PRELP) M V 157 rs2233726 Benign
31775 P51888 (PRELP) N S 334 rs2233732 Benign
31776 P51888 (PRELP) N H 348 rs9439 Benign
31777 P51946 (CCNH) R L 28 rs2234942 Benign
31778 P51946 (CCNH) M V 54 rs3093785 Benign
31779 P51946 (CCNH) K R 138 rs2266691 Benign
31780 P51946 (CCNH) V A 270 rs2230641 Benign
31781 P51948 (MNAT1) D A 282 rs35188899 Benign
31782 P51955 (NEK2) N S 354 rs2230489 Benign
31783 P51955 (NEK2) C Y 410 rs56102977 Benign
31784 P51956 (NEK3) H L 23 rs17482764 Benign
31785 P51956 (NEK3) P R 60 rs55946204 Benign
31786 P51956 (NEK3) R H 122 rs56190615 Benign
31787 P51956 (NEK3) P L 170 rs56021040 Benign
31788 P51956 (NEK3) R G 259 rs34077016 Benign
31789 P51956 (NEK3) E D 305 rs55969405 Benign
31790 P51956 (NEK3) D N 461 rs34076988 Benign
31791 P51956 (NEK3) E K 477 rs34488913 Benign
31792 P51957 (NEK4) P A 225 rs1029871 Benign
31793 P51957 (NEK4) R G 239 rs35778416 Benign
31794 P51957 (NEK4) P L 250 rs56408749 Benign
31795 P51957 (NEK4) T I 357 rs2230537 Benign
31796 P51957 (NEK4) Q E 456 rs56019351 Benign
31797 P51957 (NEK4) F L 567 rs34986855 Benign
31798 P51959 (CCNG1) N H 178 rs2069352 Benign
31799 P51959 (CCNG1) F L 179 rs11541970 Benign
31800 P51965 (UBE2E1) E D 25 rs36060625 Benign
31801 P51993 (FUT6) P S 124 rs778805 Benign
31802 P51993 (FUT6) Q K 230 rs364637 Benign
31803 P51993 (FUT6) E K 247 rs17855739 Benign
31804 P51993 (FUT6) R G 303 rs61147939 Benign
31805 P52179 (MYOM1) V L 22 rs1791085 Benign
31806 P52179 (MYOM1) S P 181 rs1962519 Benign
31807 P52179 (MYOM1) T M 215 rs2230165 Benign
31808 P52179 (MYOM1) G A 341 rs8099021 Benign
31809 P52179 (MYOM1) E V 600 rs9807556 Benign
31810 P52179 (MYOM1) I T 960 rs1071600 Benign
31811 P52179 (MYOM1) D N 1408 rs3765623 Benign
31812 P52179 (MYOM1) M T 1453 rs16944397 Benign
31813 P52209 (PGD) A S 268 rs11547610 Benign
31814 P52292 (KPNA2) A V 157 rs17850032 Benign
31815 P52292 (KPNA2) P R 165 rs11545989 Benign
31816 P52292 (KPNA2) G S 365 rs1059558 Benign
31817 P52292 (KPNA2) K N 453 rs17850031 Benign
31818 P52294 (KPNA1) S N 73 rs4678193 Benign
31819 P52306 (RAP1GDS1) S T 56 rs17849535 Benign
31820 P52306 (RAP1GDS1) K E 314 rs34392334 Benign
31821 P52333 (JAK3) P L 12 rs56061056 Benign
31822 P52333 (JAK3) R H 40 rs56384680 Benign
31823 P52333 (JAK3) Y C 100 rs137852624 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- positive/NK- cell- negative (T(-)B(+)NK( -) SCID) [MIM:600802]
31824 P52333 (JAK3) P T 132 rs3212723 Benign
31825 P52333 (JAK3) P R 151 rs55778349 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- positive/NK- cell- negative (T(-)B(+)NK( -) SCID) [MIM:600802]
31826 P52333 (JAK3) D E 169 rs147181709 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- positive/NK- cell- negative (T(-)B(+)NK( -) SCID) [MIM:600802]
31827 P52333 (JAK3) E G 481 - Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- positive/NK- cell- negative (T(-)B(+)NK( -) SCID) [MIM:600802]
31828 P52333 (JAK3) L V 521 rs55666418 Benign
31829 P52333 (JAK3) R W 582 rs193922361 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- positive/NK- cell- negative (T(-)B(+)NK( -) SCID) [MIM:600802]
31830 P52333 (JAK3) G S 589 rs886039394 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- positive/NK- cell- negative (T(-)B(+)NK( -) SCID) [MIM:600802]
31831 P52333 (JAK3) I F 688 rs35785705 Benign
31832 P52333 (JAK3) V I 722 rs3213409 Benign
31833 P52333 (JAK3) C R 759 - Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- positive/NK- cell- negative (T(-)B(+)NK( -) SCID) [MIM:600802]
31834 P52333 (JAK3) L S 910 - Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- positive/NK- cell- negative (T(-)B(+)NK( -) SCID) [MIM:600802]
31835 P52429 (DGKE) R P 63 rs312262694 Disease: Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008]
31836 P52429 (DGKE) R P 273 rs312262695 Disease: Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008]
31837 P52569 (SLC7A2) V M 20 rs12680645 Benign
31838 P52569 (SLC7A2) C F 376 rs1134975 Benign
31839 P52569 (SLC7A2) A T 531 rs62622371 Benign
31840 P52569 (SLC7A2) Q L 547 rs1981498 Benign
31841 P52597 (HNRNPF) K R 87 rs17851426 Benign
31842 P52630 (STAT2) Q H 66 rs2066816 Benign
31843 P52630 (STAT2) L P 220 rs2066817 Benign
31844 P52630 (STAT2) C S 246 rs2228259 Benign
31845 P52630 (STAT2) T M 448 rs2066815 Benign
31846 P52630 (STAT2) I V 464 rs2066811 Benign
31847 P52630 (STAT2) S I 501 rs2066809 Benign
31848 P52630 (STAT2) M I 594 rs2066807 Benign
31849 P52630 (STAT2) Q H 826 rs2229363 Benign
31850 P52655 (GTF2A1) A P 109 rs17111579 Benign
31851 P52701 (MSH6) K T 13 rs41294988 Benign
31852 P52701 (MSH6) A V 25 rs35462442 Benign
31853 P52701 (MSH6) G E 39 rs1042821 Benign
31854 P52701 (MSH6) S L 65 rs41294984 Benign
31855 P52701 (MSH6) E D 220 rs1800938 Benign
31856 P52701 (MSH6) E D 221 rs41557217 Benign
31857 P52701 (MSH6) K R 295 rs267608051 Benign
31858 P52701 (MSH6) L P 435 rs63751405 Benign
31859 P52701 (MSH6) R H 468 rs41295268 Benign
31860 P52701 (MSH6) V A 509 rs63751005 Benign
31861 P52701 (MSH6) Y S 538 rs728619 Benign
31862 P52701 (MSH6) G R 566 rs63749973 Disease: Hereditary non- polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
31863 P52701 (MSH6) S L 580 rs41295270 Benign
31864 P52701 (MSH6) L P 585 rs587779220 Benign
31865 P52701 (MSH6) P A 623 rs3136334 Benign
31866 P52701 (MSH6) S T 677 rs587779224 Benign
31867 P52701 (MSH6) R W 772 rs63750138 Disease: Hereditary non- polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
31868 P52701 (MSH6) V L 800 rs61748083 Benign
31869 P52701 (MSH6) V A 800 rs63750895 Disease: Colorectal cancer (CRC) [MIM:114500]
31870 P52701 (MSH6) I V 886 rs2020914 Benign
31871 P52701 (MSH6) P R 1087 rs63750753 Benign
31872 P52701 (MSH6) E V 1163 rs63750252 Disease: Hereditary non- polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
31873 P52701 (MSH6) E K 1193 rs63751328 Disease: Hereditary non- polyposis colorectal cancer 5 (HNPCC5) [MIM:614350]
31874 P52701 (MSH6) D V 1213 - Benign
31875 P52701 (MSH6) V L 1232 rs41295276 Benign
31876 P52701 (MSH6) E Q 1234 rs35717727 Benign
31877 P52701 (MSH6) V I 1260 rs63750673 Benign
31878 P52701 (MSH6) R G 1321 rs41295278 Benign
31879 P52732 (KIF11) F L 144 - Disease: Microcephaly with or without chorioretino pathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
31880 P52732 (KIF11) R C 234 - Disease: Microcephaly with or without chorioretino pathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
31881 P52732 (KIF11) S C 235 rs387906643 Disease: Microcephaly with or without chorioretino pathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
31882 P52732 (KIF11) R C 944 rs387906642 Disease: Microcephaly with or without chorioretino pathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
31883 P52732 (KIF11) L F 1042 rs34417963 Benign
31884 P52735 (VAV2) M V 594 rs602990 Benign
31885 P52736 (ZNF133) S T 193 rs1033545 Benign
31886 P52736 (ZNF133) G E 194 rs2228273 Benign
31887 P52737 (ZNF136) Y C 107 rs10425995 Benign
31888 P52738 (ZNF140) A V 386 rs2229373 Benign
31889 P52740 (ZNF132) G D 203 rs1122955 Benign
31890 P52740 (ZNF132) P L 252 rs1465789 Benign
31891 P52741 (ZNF134) I T 30 rs10414451 Benign
31892 P52741 (ZNF134) A T 46 rs10413455 Benign
31893 P52741 (ZNF134) S R 207 rs34034473 Benign
31894 P52742 (ZNF135) G D 22 rs1469087 Benign
31895 P52742 (ZNF135) S L 507 rs2228277 Benign
31896 P52742 (ZNF135) T A 517 rs2228278 Benign
31897 P52742 (ZNF135) G R 579 rs2228279 Benign
31898 P52742 (ZNF135) S L 592 rs2228275 Benign
31899 P52743 (ZNF137P) R Q 112 rs7250969 Benign
31900 P52743 (ZNF137P) Q H 181 rs1802617 Benign
31901 P52744 (ZNF138) G E 62 rs10949946 Benign
31902 P52746 (ZNF142) S G 751 rs3770214 Benign
31903 P52746 (ZNF142) L H 956 rs3770213 Benign
31904 P52746 (ZNF142) C F 1233 rs1275959058 Disease: Neurodevelop mental disorder with impaired speech and hyperkinetic movements (NEDISHM) [MIM:618425]
31905 P52746 (ZNF142) A T 1313 rs3821033 Benign
31906 P52746 (ZNF142) R T 1500 - Disease: Neurodevelop mental disorder with impaired speech and hyperkinetic movements (NEDISHM) [MIM:618425]
31907 P52747 (ZNF143) G D 461 rs34972213 Benign
31908 P52747 (ZNF143) E Q 561 rs10743108 Benign
31909 P52756 (RBM5) K N 163 rs56783610 Benign
31910 P52757 (CHN2) H R 204 rs3750103 Benign
31911 P52757 (CHN2) P S 438 rs34971642 Benign
31912 P52788 (SMS) G S 56 rs121434610 Disease: X-linked syndromic mental retardation Snyder- Robinson type (MRXSSR) [MIM:309583]
31913 P52788 (SMS) F L 58 rs397515549 Disease: X-linked syndromic mental retardation Snyder- Robinson type (MRXSSR) [MIM:309583]
31914 P52788 (SMS) N S 60 rs1394834572 Benign
31915 P52788 (SMS) G E 67 rs397515550 Disease: X-linked syndromic mental retardation Snyder- Robinson type (MRXSSR) [MIM:309583]
31916 P52788 (SMS) V G 132 rs267607076 Disease: X-linked syndromic mental retardation Snyder- Robinson type (MRXSSR) [MIM:309583]
31917 P52788 (SMS) Y C 328 rs397515553 Disease: X-linked syndromic mental retardation Snyder- Robinson type (MRXSSR) [MIM:309583]
31918 P52789 (HK2) Q H 142 rs2229621 Benign
31919 P52789 (HK2) L F 148 - Benign
31920 P52789 (HK2) R C 274 rs28363006 Benign
31921 P52789 (HK2) A P 314 rs28363015 Benign
31922 P52789 (HK2) A V 314 - Benign
31923 P52789 (HK2) T I 331 rs28363016 Benign
31924 P52789 (HK2) R C 353 rs61748096 Benign
31925 P52789 (HK2) A S 387 rs28363029 Benign
31926 P52789 (HK2) R Q 497 rs145124653 Benign
31927 P52789 (HK2) R Q 775 rs185927605 Benign
31928 P52789 (HK2) R Q 801 rs28363057 Benign
31929 P52789 (HK2) R K 844 rs2229629 Benign
31930 P52789 (HK2) D N 881 rs28363065 Benign
31931 P52790 (HK3) G R 281 rs35610191 Benign
31932 P52797 (EFNA3) V M 190 rs17723260 Benign
31933 P52803 (EFNA5) N K 55 rs469062 Benign
31934 P52815 (MRPL12) S P 105 rs11546280 Benign
31935 P52824 (DGKQ) P L 27 rs17855876 Benign
31936 P52848 (NDST1) G S 611 rs606231459 Disease: Mental retardation, autosomal recessive 46 (MRT46) [MIM:616116]
31937 P52848 (NDST1) F L 640 rs606231458 Disease: Mental retardation, autosomal recessive 46 (MRT46) [MIM:616116]
31938 P52848 (NDST1) E D 642 rs606231457 Disease: Mental retardation, autosomal recessive 46 (MRT46) [MIM:616116]
31939 P52848 (NDST1) R Q 709 rs606231456 Disease: Mental retardation, autosomal recessive 46 (MRT46) [MIM:616116]
31940 P52895 (AKR1C2) F Y 46 rs2854482 Benign
31941 P52895 (AKR1C2) I V 79 rs387906750 Disease: 46,XY sex reversal 8 (SRXY8) [MIM:614279]
31942 P52895 (AKR1C2) H Q 90 rs797044460 Disease: 46,XY sex reversal 8 (SRXY8) [MIM:614279]
31943 P52895 (AKR1C2) L Q 172 rs11474 Benign
31944 P52895 (AKR1C2) H Q 222 - Disease: 46,XY sex reversal 8 (SRXY8) [MIM:614279]
31945 P52895 (AKR1C2) N T 300 rs387906751 Disease: 46,XY sex reversal 8 (SRXY8) [MIM:614279]
31946 P52907 (CAPZA1) S L 219 rs555597264 Benign
31947 P52945 (PDX1) C R 18 rs137852785 Benign
31948 P52945 (PDX1) Q L 59 rs137852784 Benign
31949 P52945 (PDX1) D N 76 rs137852783 Benign
31950 P52945 (PDX1) R H 197 rs137852786 Benign
31951 P52952 (NKX2-5) L P 7 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31952 P52952 (NKX2-5) K I 15 rs387906773 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31953 P52952 (NKX2-5) D A 16 rs17052019 Benign
31954 P52952 (NKX2-5) N S 19 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31955 P52952 (NKX2-5) E Q 21 rs104893904 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
31956 P52952 (NKX2-5) Q P 22 rs201442000 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
31957 P52952 (NKX2-5) S P 45 rs779548360 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31958 P52952 (NKX2-5) F L 51 rs753937287 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31959 P52952 (NKX2-5) P A 59 rs387906775 Disease: Ventricular septal defect 3 (VSD3) [MIM:614432]
31960 P52952 (NKX2-5) A V 63 rs530270916 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31961 P52952 (NKX2-5) L P 69 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31962 P52952 (NKX2-5) G D 74 rs201362118 Benign
31963 P52952 (NKX2-5) P L 77 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31964 P52952 (NKX2-5) C R 114 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31965 P52952 (NKX2-5) C S 114 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31966 P52952 (NKX2-5) K R 118 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31967 P52952 (NKX2-5) A S 119 rs137852684 Disease: Hypothyroidi sm, congenital, non- goitrous, 5 (CHNG5) [MIM:225250]
31968 P52952 (NKX2-5) K R 124 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31969 P52952 (NKX2-5) E V 126 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31970 P52952 (NKX2-5) A E 127 rs387906774 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31971 P52952 (NKX2-5) P S 133 rs1184594159 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31972 P52952 (NKX2-5) A T 135 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31973 P52952 (NKX2-5) R C 142 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31974 P52952 (NKX2-5) L P 144 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31975 P52952 (NKX2-5) R P 161 rs137852685 Disease: Hypothyroidi sm, congenital, non- goitrous, 5 (CHNG5) [MIM:225250]
31976 P52952 (NKX2-5) T M 178 rs104893900 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31977 P52952 (NKX2-5) K E 183 rs137852686 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31978 P52952 (NKX2-5) Q H 187 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31979 P52952 (NKX2-5) N K 188 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31980 P52952 (NKX2-5) R G 189 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31981 P52952 (NKX2-5) R C 190 rs104893906 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31982 P52952 (NKX2-5) Y C 191 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31983 P52952 (NKX2-5) K R 192 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31984 P52952 (NKX2-5) K T 192 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31985 P52952 (NKX2-5) K R 194 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31986 P52952 (NKX2-5) V E 205 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31987 P52952 (NKX2-5) R C 216 rs104893905 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
31988 P52952 (NKX2-5) A V 219 rs104893902 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
31989 P52952 (NKX2-5) D N 226 rs760528062 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31990 P52952 (NKX2-5) Y H 248 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31991 P52952 (NKX2-5) P T 275 rs368366482 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31992 P52952 (NKX2-5) S F 279 rs1223599871 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31993 P52952 (NKX2-5) S P 279 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31994 P52952 (NKX2-5) A V 281 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31995 P52952 (NKX2-5) P Q 283 rs375086983 Disease: Ventricular septal defect 3 (VSD3) [MIM:614432]
31996 P52952 (NKX2-5) A V 286 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31997 P52952 (NKX2-5) N H 294 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31998 P52952 (NKX2-5) D G 299 rs137852683 Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
31999 P52952 (NKX2-5) S G 305 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
32000 P52952 (NKX2-5) G S 320 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
32001 P52952 (NKX2-5) R Q 322 - Disease: Atrial septal defect 7, with or without atrioventric ular conduction defects (ASD7) [MIM:108900]
32002 P52952 (NKX2-5) A T 323 - Disease: Tetralogy of Fallot (TOF) [MIM:187500]
32003 P52961 (ART1) P L 105 rs35123761 Benign
32004 P52961 (ART1) P R 126 rs35619488 Benign
32005 P52961 (ART1) L P 257 rs2280134 Benign
32006 P53004 (BLVRA) A T 3 rs699512 Benign
32007 P53004 (BLVRA) L V 37 rs17245918 Benign
32008 P53004 (BLVRA) Q R 56 rs1050916 Benign
32009 P53007 (SLC25A1) I N 40 - Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32010 P53007 (SLC25A1) P L 45 - Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32011 P53007 (SLC25A1) E K 47 - Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32012 P53007 (SLC25A1) G D 93 - Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32013 P53007 (SLC25A1) G D 130 rs368647424 Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32014 P53007 (SLC25A1) E Q 144 - Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32015 P53007 (SLC25A1) G R 167 - Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32016 P53007 (SLC25A1) S W 193 rs781925968 Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32017 P53007 (SLC25A1) R H 198 rs1331417017 Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32018 P53007 (SLC25A1) M T 202 rs782335811 Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32019 P53007 (SLC25A1) N S 238 - Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32020 P53007 (SLC25A1) R Q 247 rs781908532 Disease: Myasthenic syndrome, congenital, 23, presynaptic (CMS23) [MIM:618197]
32021 P53007 (SLC25A1) C R 262 - Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32022 P53007 (SLC25A1) R C 282 rs431905509 Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32023 P53007 (SLC25A1) R G 282 rs431905509 Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32024 P53007 (SLC25A1) R H 282 rs431905510 Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32025 P53007 (SLC25A1) Y C 297 - Disease: Combined D-2- and L-2-hydroxyg lutaric aciduria (D2L2AD) [MIM:615182]
32026 P53350 (PLK1) L F 261 rs35056440 Benign
32027 P53350 (PLK1) N D 297 rs16972799 Benign
32028 P53350 (PLK1) L V 332 rs45489499 Benign
32029 P53350 (PLK1) L H 463 rs45569335 Benign
32030 P53350 (PLK1) R H 518 rs56027600 Benign
32031 P53350 (PLK1) S L 595 rs34001032 Benign
32032 P53350 (PLK1) R H 599 rs34954545 Benign
32033 P53355 (DAPK1) V I 416 rs12343465 Benign
32034 P53355 (DAPK1) A S 461 - Benign
32035 P53355 (DAPK1) S A 519 - Benign
32036 P53355 (DAPK1) C Y 540 rs56327474 Benign
32037 P53355 (DAPK1) P L 591 rs36214022 Benign
32038 P53355 (DAPK1) I M 622 rs36215047 Benign
32039 P53355 (DAPK1) M T 941 - Benign
32040 P53355 (DAPK1) R W 977 - Benign
32041 P53355 (DAPK1) K N 978 - Benign
32042 P53355 (DAPK1) Y C 993 - Benign
32043 P53355 (DAPK1) D E 994 - Benign
32044 P53355 (DAPK1) E Q 1005 - Benign
32045 P53355 (DAPK1) D Y 1007 - Benign
32046 P53355 (DAPK1) L P 1008 - Benign
32047 P53355 (DAPK1) R C 1010 rs371784492 Benign
32048 P53355 (DAPK1) T A 1018 - Benign
32049 P53355 (DAPK1) M I 1272 rs56169226 Benign
32050 P53355 (DAPK1) S N 1346 rs1056719 Benign
32051 P53355 (DAPK1) G V 1405 rs36220450 Benign
32052 P53370 (NUDT6) C R 114 rs12648093 Benign
32053 P53370 (NUDT6) R Q 209 rs1048201 Benign
32054 P53384 (NUBP1) P A 39 rs2233531 Benign
32055 P53396 (ACLY) E D 175 rs2304497 Benign
32056 P53420 (COL4A4) I T 6 rs16823264 Benign
32057 P53420 (COL4A4) G E 116 rs1553696235 Disease: Hematuria, benign familial (BFH) [MIM:141200]
32058 P53420 (COL4A4) P S 482 rs2229814 Benign
32059 P53420 (COL4A4) G A 545 rs1800516 Benign
32060 P53420 (COL4A4) E Q 570 - Benign
32061 P53420 (COL4A4) E G 594 rs35998949 Benign
32062 P53420 (COL4A4) V I 670 rs34236495 Benign
32063 P53420 (COL4A4) P L 759 rs36121515 Benign
32064 P53420 (COL4A4) G E 897 rs121912860 Disease: Hematuria, benign familial (BFH) [MIM:141200]
32065 P53420 (COL4A4) A T 931 rs75875272 Benign
32066 P53420 (COL4A4) G R 960 rs769783985 Disease: Hematuria, benign familial (BFH) [MIM:141200]
32067 P53420 (COL4A4) G E 999 rs13027659 Disease: Hematuria, benign familial (BFH) [MIM:141200]
32068 P53420 (COL4A4) P L 1004 rs1800517 Benign
32069 P53420 (COL4A4) G V 1030 rs772699709 Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
32070 P53420 (COL4A4) P L 1132 - Disease: Hematuria, benign familial (BFH) [MIM:141200]
32071 P53420 (COL4A4) G S 1201 rs121912858 Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
32072 P53420 (COL4A4) V M 1327 rs2229813 Benign
32073 P53420 (COL4A4) P S 1402 - Benign
32074 P53420 (COL4A4) S P 1403 rs3752895 Benign
32075 P53420 (COL4A4) P L 1572 rs121912863 Disease: Alport syndrome 2, autosomal recessive (ATS2) [MIM:203780]
32076 P53539 (FOSB) G S 33 rs28381241 Benign
32077 P53597 (SUCLG1) M L 14 rs796052053 Disease: Mitochondria l DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
32078 P53597 (SUCLG1) G A 37 rs369610897 Benign
32079 P53597 (SUCLG1) G A 85 rs267607097 Disease: Mitochondria l DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
32080 P53597 (SUCLG1) P R 170 rs267607099 Disease: Mitochondria l DNA depletion syndrome 9 (MTDPS9) [MIM:245400]
32081 P53602 (MVD) R Q 161 rs144010349 Disease: Porokeratosi s 7, multiple types (POROK7) [MIM:614714]
32082 P53602 (MVD) F S 249 rs761991070 Disease: Porokeratosi s 7, multiple types (POROK7) [MIM:614714]
32083 P53602 (MVD) N H 278 rs34519538 Benign
32084 P53602 (MVD) N S 292 rs755948940 Disease: Porokeratosi s 7, multiple types (POROK7) [MIM:614714]
32085 P53609 (PGGT1B) I V 103 rs34918686 Benign
32086 P53621 (COPA) K N 230 rs864309710 Disease: Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414]
32087 P53621 (COPA) R H 233 rs794727993 Disease: Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414]
32088 P53621 (COPA) E K 241 rs794727995 Disease: Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414]
32089 P53621 (COPA) D G 243 rs794727994 Disease: Autoimmune interstitial lung, joint, and kidney disease (AILJK) [MIM:616414]
32090 P53621 (COPA) V G 1040 rs34997807 Benign
32091 P53634 (CTSC) W S 39 rs104894210 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32092 P53634 (CTSC) H P 127 rs104894216 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32093 P53634 (CTSC) V E 129 rs760130711 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32094 P53634 (CTSC) G R 139 rs749103588 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32095 P53634 (CTSC) I T 153 rs217086 Benign
32096 P53634 (CTSC) D Y 236 rs764724707 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32097 P53634 (CTSC) V F 249 - Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32098 P53634 (CTSC) Q L 252 rs104894207 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32099 P53634 (CTSC) R H 272 rs587777534 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32100 P53634 (CTSC) R P 272 rs587777534 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32101 P53634 (CTSC) Q R 286 rs104894208 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32102 P53634 (CTSC) C Y 291 rs748729285 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32103 P53634 (CTSC) Y H 294 - Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32104 P53634 (CTSC) G D 300 - Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32105 P53634 (CTSC) G S 300 - Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32106 P53634 (CTSC) G S 301 rs104894214 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32107 P53634 (CTSC) G V 301 - Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32108 P53634 (CTSC) Y N 304 - Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32109 P53634 (CTSC) Q R 312 rs1484758757 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32110 P53634 (CTSC) E G 319 rs1294233227 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32111 P53634 (CTSC) R C 339 rs1044703733 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32112 P53634 (CTSC) Y C 340 - Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32113 P53634 (CTSC) Y C 347 rs104894211 Disease: Periodontiti tis, aggressive, 1 (AP1) [MIM:170650]
32114 P53634 (CTSC) E K 401 rs200627023 Benign
32115 P53634 (CTSC) H N 405 - Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32116 P53634 (CTSC) H R 405 rs151269219 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32117 P53634 (CTSC) Y C 412 rs28937571 Disease: Periodontiti tis, aggressive, 1 (AP1) [MIM:170650]
32118 P53634 (CTSC) W C 429 rs104894215 Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32119 P53634 (CTSC) E G 447 - Disease: Papillon- Lefevre syndrome (PLS) [MIM:245000]
32120 P53634 (CTSC) I V 453 rs3888798 Benign
32121 P53667 (LIMK1) G A 190 rs35827364 Benign
32122 P53667 (LIMK1) S N 247 rs55661242 Benign
32123 P53667 (LIMK1) R Q 422 rs55679316 Benign
32124 P53667 (LIMK1) F Y 580 rs178412 Benign
32125 P53671 (LIMK2) G S 35 rs5997917 Benign
32126 P53671 (LIMK2) D N 45 rs35923988 Benign
32127 P53671 (LIMK2) R C 213 rs34930775 Benign
32128 P53671 (LIMK2) P R 296 rs34875793 Benign
32129 P53671 (LIMK2) R H 381 rs2229874 Benign
32130 P53671 (LIMK2) R C 418 rs35422808 Benign
32131 P53672 (CRYBA2) P S 7 rs141631259 Benign
32132 P53672 (CRYBA2) V M 50 - Disease: Cataract 42 (CTRCT42) [MIM:115900]
32133 P53673 (CRYBA4) V M 36 rs35520672 Benign
32134 P53673 (CRYBA4) G W 64 rs1114167427 Disease: Cataract 23, multiple types (CTRCT23) [MIM:610425]
32135 P53673 (CRYBA4) L P 69 rs74315487 Disease: Cataract 23, multiple types (CTRCT23) [MIM:610425]
32136 P53673 (CRYBA4) T M 84 rs4277 Benign
32137 P53673 (CRYBA4) F S 94 rs74315486 Disease: Cataract 23, multiple types (CTRCT23) [MIM:610425]
32138 P53674 (CRYBB1) V F 96 - Disease: Cataract 17, multiple types (CTRCT17) [MIM:611544]
32139 P53674 (CRYBB1) S R 129 rs1114167433 Disease: -
32140 P53675 (CLTCL1) P L 61 rs3747059 Benign
32141 P53675 (CLTCL1) K R 205 rs5746697 Benign
32142 P53675 (CLTCL1) Y C 279 rs807459 Benign
32143 P53675 (CLTCL1) E K 691 rs1060374 Benign
32144 P53675 (CLTCL1) K R 941 rs35398725 Benign
32145 P53675 (CLTCL1) R H 945 rs36077768 Benign
32146 P53675 (CLTCL1) R C 1046 rs712952 Benign
32147 P53675 (CLTCL1) N S 1195 rs807547 Benign
32148 P53675 (CLTCL1) M V 1316 rs1061325 Benign
32149 P53675 (CLTCL1) I T 1394 rs1633399 Benign
32150 P53675 (CLTCL1) V M 1592 rs2073738 Benign
32151 P53675 (CLTCL1) R H 1620 rs5748024 Benign
32152 P53680 (AP2S1) R C 15 rs397514498 Disease: Hypocalciuri c hypercalcemi a, familial 3 (HHC3) [MIM:600740]
32153 P53680 (AP2S1) R H 15 rs397514499 Disease: Hypocalciuri c hypercalcemi a, familial 3 (HHC3) [MIM:600740]
32154 P53680 (AP2S1) R L 15 rs397514499 Disease: Hypocalciuri c hypercalcemi a, familial 3 (HHC3) [MIM:600740]
32155 P53701 (HCCS) R C 217 rs121917889 Disease: Linear skin defects with multiple congenital anomalies 1 (LSDMCA1) [MIM:309801]
32156 P53708 (ITGA8) V L 216 rs7895372 Benign
32157 P53708 (ITGA8) G R 407 rs374664941 Disease: Renal hypodysplasi a/aplasia 1 (RHDA1) [MIM:191830]
32158 P53708 (ITGA8) V L 567 - Benign
32159 P53708 (ITGA8) S F 577 rs2298033 Benign
32160 P53708 (ITGA8) Q P 581 rs9333269 Benign
32161 P53708 (ITGA8) R H 748 rs9333174 Benign
32162 P53708 (ITGA8) I V 993 rs9333241 Benign
32163 P53708 (ITGA8) V A 994 rs1041135 Benign
32164 P53778 (MAPK12) T M 103 rs34422484 Benign
32165 P53778 (MAPK12) D N 230 rs35396905 Benign
32166 P53778 (MAPK12) T M 244 rs2066776 Benign
32167 P53794 (SLC5A3) T A 50 rs8129891 Benign
32168 P53794 (SLC5A3) Q K 566 rs4817617 Benign
32169 P53804 (TTC3) M T 840 rs1053808 Benign
32170 P53804 (TTC3) S C 1038 rs377155188 Benign
32171 P53804 (TTC3) P S 1154 rs1053840 Benign
32172 P53804 (TTC3) D H 1751 rs1053966 Benign
32173 P53814 (SMTN) G D 455 rs1064178 Benign
32174 P53814 (SMTN) A P 547 rs3205187 Benign
32175 P53814 (SMTN) A V 559 rs5997872 Benign
32176 P53814 (SMTN) A T 580 rs12158015 Benign
32177 P53814 (SMTN) R C 642 rs34292278 Benign
32178 P53985 (SLC16A1) S G 85 rs11551867 Benign
32179 P53985 (SLC16A1) K E 204 rs80358222 Disease: Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]
32180 P53985 (SLC16A1) R Q 313 rs606231302 Disease: Monocarboxyl ate transporter 1 deficiency (MCT1D) [MIM:616095]
32181 P53985 (SLC16A1) G R 472 rs72552271 Disease: Symptomatic deficiency in lactate transport (SDLT) [MIM:245340]
32182 P53985 (SLC16A1) D E 490 rs1049434 Benign
32183 P53992 (SEC24C) P S 109 rs17851695 Benign
32184 P53992 (SEC24C) L P 934 rs16930872 Benign
32185 P53999 (SUB1) S G 11 rs17850527 Benign
32186 P54098 (POLG) R P 3 rs121918045 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32187 P54098 (POLG) P S 18 rs3087373 Benign
32188 P54098 (POLG) R Q 193 rs3176162 Benign
32189 P54098 (POLG) R W 227 rs121918056 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32190 P54098 (POLG) R G 232 - Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32191 P54098 (POLG) R H 232 rs113994093 Disease: Leigh syndrome (LS) [MIM:256000]
32192 P54098 (POLG) L P 244 - Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32193 P54098 (POLG) T I 251 rs113994094 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32194 P54098 (POLG) G A 268 rs61752784 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32195 P54098 (POLG) L R 304 rs121918044 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32196 P54098 (POLG) Q H 308 rs745539599 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32197 P54098 (POLG) R L 309 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32198 P54098 (POLG) W R 312 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32199 P54098 (POLG) P S 324 rs2307437 Benign
32200 P54098 (POLG) G D 380 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32201 P54098 (POLG) G V 431 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32202 P54098 (POLG) L F 463 rs150828914 Benign
32203 P54098 (POLG) A T 467 rs113994095 Disease: Spinocerebel lar ataxia with epilepsy (SCAE) [MIM:607459]
32204 P54098 (POLG) N D 468 rs145843073 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32205 P54098 (POLG) Q H 497 rs121918052 Disease: Spinocerebel lar ataxia with epilepsy (SCAE) [MIM:607459]
32206 P54098 (POLG) S N 511 rs121918055 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
32207 P54098 (POLG) G V 517 rs61752783 Disease: Sensory ataxic neuropathy dysarthria and ophthalmopar esis (SANDO) [MIM:607459]
32208 P54098 (POLG) R C 546 rs2307447 Benign
32209 P54098 (POLG) R Q 562 rs781168350 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32210 P54098 (POLG) R W 574 rs774474723 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32211 P54098 (POLG) R W 579 rs556925652 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32212 P54098 (POLG) P L 587 rs113994096 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32213 P54098 (POLG) M L 603 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32214 P54098 (POLG) R Q 627 rs375305567 Disease: Sensory ataxic neuropathy dysarthria and ophthalmopar esis (SANDO) [MIM:607459]
32215 P54098 (POLG) R W 627 rs121918046 Disease: Sensory ataxic neuropathy dysarthria and ophthalmopar esis (SANDO) [MIM:607459]
32216 P54098 (POLG) P R 648 rs796052906 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32217 P54098 (POLG) E K 662 rs2307450 Benign
32218 P54098 (POLG) G R 737 rs121918054 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32219 P54098 (POLG) A D 767 - Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32220 P54098 (POLG) R C 807 rs769827124 Disease: Sensory ataxic neuropathy dysarthria and ophthalmopar esis (SANDO) [MIM:607459]
32221 P54098 (POLG) R P 807 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32222 P54098 (POLG) G S 848 rs113994098 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32223 P54098 (POLG) R W 853 rs121918053 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32224 P54098 (POLG) N S 864 rs121918050 Disease: Mitochondria l DNA depletion syndrome 4B (MTDPS4B) [MIM:613662]
32225 P54098 (POLG) Q H 879 - Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32226 P54098 (POLG) T S 885 - Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32227 P54098 (POLG) A T 889 rs763393580 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32228 P54098 (POLG) T P 914 rs139590686 Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32229 P54098 (POLG) G D 923 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
32230 P54098 (POLG) H Y 932 rs121918048 Disease: Sensory ataxic neuropathy dysarthria and ophthalmopar esis (SANDO) [MIM:607459]
32231 P54098 (POLG) R H 943 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
32232 P54098 (POLG) R C 953 rs11546842 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
32233 P54098 (POLG) Y C 955 rs113994099 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
32234 P54098 (POLG) A P 957 - Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32235 P54098 (POLG) A S 957 rs121918051 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
32236 P54098 (POLG) R Q 1047 rs768028281 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32237 P54098 (POLG) G R 1051 rs121918049 Disease: Sensory ataxic neuropathy dysarthria and ophthalmopar esis (SANDO) [MIM:607459]
32238 P54098 (POLG) G V 1076 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32239 P54098 (POLG) R C 1096 rs201732356 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32240 P54098 (POLG) R H 1096 rs368435864 Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32241 P54098 (POLG) S C 1104 rs1010372555 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32242 P54098 (POLG) A T 1105 rs753410045 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32243 P54098 (POLG) V I 1106 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32244 P54098 (POLG) H Y 1110 - Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32245 P54098 (POLG) H R 1134 - Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32246 P54098 (POLG) E K 1136 rs56047213 Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32247 P54098 (POLG) R W 1142 rs2307442 Benign
32248 P54098 (POLG) E G 1143 rs2307441 Benign
32249 P54098 (POLG) R C 1146 rs2307440 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32250 P54098 (POLG) S L 1176 rs776031396 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
32251 P54098 (POLG) D N 1184 rs1131691575 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450]
32252 P54098 (POLG) D H 1186 - Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal dominant, 1 (PEOA1) [MIM:157640]
32253 P54098 (POLG) K N 1191 rs1085307741 Disease: Mitochondria l DNA depletion syndrome 4A (MTDPS4A) [MIM:203700]
32254 P54098 (POLG) Q H 1236 rs3087374 Benign
32255 P54105 (CLNS1A) Q H 20 - Benign
32256 P54105 (CLNS1A) M T 218 - Benign
32257 P54108 (CRISP3) S P 106 rs495335 Benign
32258 P54108 (CRISP3) A S 134 rs1864312 Benign
32259 P54132 (BLM) K R 137 rs28384988 Benign
32260 P54132 (BLM) T M 298 rs28384991 Benign
32261 P54132 (BLM) R Q 591 rs28385012 Benign
32262 P54132 (BLM) Q R 672 rs747281324 Disease: Bloom syndrome (BLM) [MIM:210900]
32263 P54132 (BLM) I T 841 rs767086502 Disease: Bloom syndrome (BLM) [MIM:210900]
32264 P54132 (BLM) T I 843 rs137853152 Disease: Bloom syndrome (BLM) [MIM:210900]
32265 P54132 (BLM) P L 868 rs2227935 Benign
32266 P54132 (BLM) C R 878 - Disease: Bloom syndrome (BLM) [MIM:210900]
32267 P54132 (BLM) G E 891 - Disease: Bloom syndrome (BLM) [MIM:210900]
32268 P54132 (BLM) C Y 901 rs758311406 Disease: Bloom syndrome (BLM) [MIM:210900]
32269 P54132 (BLM) C F 1036 rs137853153 Disease: Bloom syndrome (BLM) [MIM:210900]
32270 P54132 (BLM) A D 1043 rs2229035 Benign
32271 P54132 (BLM) C S 1055 rs367543029 Disease: Bloom syndrome (BLM) [MIM:210900]
32272 P54132 (BLM) V I 1205 rs28385141 Benign
32273 P54132 (BLM) S T 1209 rs1801256 Benign
32274 P54132 (BLM) E K 1213 rs28385142 Benign
32275 P54132 (BLM) V I 1321 rs7167216 Benign
32276 P54136 (RARS1) D G 2 rs672601372 Disease: Leukodystrop hy, hypomyelinat ing, 9 (HLD9) [MIM:616140]
32277 P54136 (RARS1) V I 3 rs244903 Benign
32278 P54136 (RARS1) R G 135 rs1059443 Benign
32279 P54136 (RARS1) F Y 397 rs2305734 Benign
32280 P54136 (RARS1) R Q 512 rs369398935 Disease: Leukodystrop hy, hypomyelinat ing, 9 (HLD9) [MIM:616140]
32281 P54219 (SLC18A1) T P 4 rs2270641 Benign
32282 P54219 (SLC18A1) R Q 11 rs17092144 Benign
32283 P54219 (SLC18A1) A V 74 rs17215815 Benign
32284 P54219 (SLC18A1) F C 82 rs17215822 Benign
32285 P54219 (SLC18A1) F S 84 rs17215801 Benign
32286 P54219 (SLC18A1) S T 98 rs2270637 Benign
32287 P54219 (SLC18A1) A P 101 rs17222218 Benign
32288 P54219 (SLC18A1) I T 136 rs1390938 Benign
32289 P54219 (SLC18A1) G R 140 rs17215808 Benign
32290 P54219 (SLC18A1) I M 164 rs17222092 Benign
32291 P54219 (SLC18A1) I T 202 rs17222120 Benign
32292 P54219 (SLC18A1) V I 249 rs17215759 Benign
32293 P54219 (SLC18A1) L V 392 rs17092104 Benign
32294 P54252 (ATXN3) V M 212 rs1048755 Benign
32295 P54253 (ATXN1) H Q 209 rs11969612 Benign
32296 P54253 (ATXN1) P S 753 rs16885 Benign
32297 P54257 (HAP1) K R 4 rs4796604 Benign
32298 P54257 (HAP1) S T 58 rs4796603 Benign
32299 P54257 (HAP1) S L 357 rs4796693 Benign
32300 P54257 (HAP1) L F 408 rs35612698 Benign
32301 P54257 (HAP1) R W 437 rs11867808 Benign
32302 P54257 (HAP1) F L 483 rs8075017 Benign
32303 P54257 (HAP1) A V 488 rs34853043 Benign
32304 P54257 (HAP1) T M 493 rs4523977 Benign
32305 P54257 (HAP1) A V 557 rs34853043 Benign
32306 P54257 (HAP1) F L 560 rs8075017 Benign
32307 P54257 (HAP1) G R 656 rs34044330 Benign
32308 P54259 (ATN1) M I 339 rs1058045 Benign
32309 P54259 (ATN1) H N 1054 - Disease: Congenital hypotonia, epilepsy, developmenta l delay, and digital anomalies (CHEDDA) [MIM:618494]
32310 P54259 (ATN1) H Y 1058 - Disease: Congenital hypotonia, epilepsy, developmenta l delay, and digital anomalies (CHEDDA) [MIM:618494]
32311 P54259 (ATN1) H Y 1060 - Disease: Congenital hypotonia, epilepsy, developmenta l delay, and digital anomalies (CHEDDA) [MIM:618494]
32312 P54259 (ATN1) H D 1062 - Disease: Congenital hypotonia, epilepsy, developmenta l delay, and digital anomalies (CHEDDA) [MIM:618494]
32313 P54259 (ATN1) H R 1062 - Disease: Congenital hypotonia, epilepsy, developmenta l delay, and digital anomalies (CHEDDA) [MIM:618494]
32314 P54259 (ATN1) L R 1063 - Disease: Congenital hypotonia, epilepsy, developmenta l delay, and digital anomalies (CHEDDA) [MIM:618494]
32315 P54277 (PMS1) E Q 27 rs5742973 Benign
32316 P54277 (PMS1) R K 202 rs2066459 Benign
32317 P54277 (PMS1) M T 394 rs1145231 Benign
32318 P54277 (PMS1) G R 501 rs1145232 Benign
32319 P54277 (PMS1) N S 632 rs2066456 Benign
32320 P54277 (PMS1) E D 720 rs2066455 Benign
32321 P54277 (PMS1) Y H 793 rs1145234 Benign
32322 P54278 (PMS2) I V 18 rs63750123 Benign
32323 P54278 (PMS2) R Q 20 rs10254120 Benign
32324 P54278 (PMS2) S R 36 rs587781918 Benign
32325 P54278 (PMS2) S I 46 rs121434629 Disease: Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
32326 P54278 (PMS2) S N 46 rs121434629 Disease: Hereditary non- polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
32327 P54278 (PMS2) D E 60 rs200313585 Benign
32328 P54278 (PMS2) R W 107 rs188006077 Disease: Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
32329 P54278 (PMS2) C G 115 - Disease: Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
32330 P54278 (PMS2) T K 277 rs1805322 Benign
32331 P54278 (PMS2) A T 423 rs587778619 Benign
32332 P54278 (PMS2) P S 470 rs1805321 Benign
32333 P54278 (PMS2) V E 475 rs587781827 Benign
32334 P54278 (PMS2) T K 485 rs1805323 Benign
32335 P54278 (PMS2) T A 511 rs2228007 Benign
32336 P54278 (PMS2) T M 511 rs74902811 Benign
32337 P54278 (PMS2) T P 511 rs2228007 Benign
32338 P54278 (PMS2) K E 541 rs2228006 Benign
32339 P54278 (PMS2) R L 563 rs63750668 Benign
32340 P54278 (PMS2) L I 571 rs63750055 Benign
32341 P54278 (PMS2) T S 597 rs1805318 Benign
32342 P54278 (PMS2) D H 699 rs587781317 Benign
32343 P54278 (PMS2) E K 705 rs267608161 Disease: Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
32344 P54278 (PMS2) N S 775 rs17420802 Benign
32345 P54278 (PMS2) D N 792 rs587781265 Benign
32346 P54278 (PMS2) S L 815 rs587779338 Disease: Mismatch repair cancer syndrome (MMRCS) [MIM:276300]
32347 P54278 (PMS2) C Y 843 rs267608174 Disease: Hereditary non- polyposis colorectal cancer 4 (HNPCC4) [MIM:614337]
32348 P54278 (PMS2) I M 853 rs371673459 Benign
32349 P54278 (PMS2) G A 857 rs1802683 Benign
32350 P54284 (CACNB3) R H 423 rs2229954 Benign
32351 P54289 (CACNA2D1) E D 1019 rs9886043 Benign
32352 P54289 (CACNA2D1) D A 1057 rs35131433 Benign
32353 P54296 (MYOM2) E K 81 rs35985218 Benign
32354 P54296 (MYOM2) T M 182 rs17064618 Benign
32355 P54296 (MYOM2) V L 321 rs2272720 Benign
32356 P54296 (MYOM2) V I 363 rs34316994 Benign
32357 P54296 (MYOM2) S Y 601 rs36089594 Benign
32358 P54296 (MYOM2) V I 701 rs35335787 Benign
32359 P54296 (MYOM2) T M 776 rs2294066 Benign
32360 P54296 (MYOM2) N S 869 rs968381 Benign
32361 P54296 (MYOM2) L F 1022 rs2280896 Benign
32362 P54296 (MYOM2) V A 1168 rs17854780 Benign
32363 P54296 (MYOM2) E D 1284 rs34735757 Benign
32364 P54315 (PNLIPRP1) N D 61 rs11197744 Benign
32365 P54315 (PNLIPRP1) A V 271 rs2305205 Benign
32366 P54315 (PNLIPRP1) E D 414 rs2305204 Benign
32367 P54315 (PNLIPRP1) L P 461 rs1049125 Benign
32368 P54317 (PNLIPRP2) I V 361 rs4751996 Benign
32369 P54368 (OAZ1) R L 32 rs4667 Benign
32370 P54368 (OAZ1) G D 44 rs28359762 Benign
32371 P54368 (OAZ1) S F 50 rs28384673 Benign
32372 P54368 (OAZ1) S F 53 rs2230749 Benign
32373 P54368 (OAZ1) A V 147 rs28384677 Benign
32374 P54577 (YARS1) G R 41 rs121908833 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) [MIM:608323]
32375 P54577 (YARS1) Q H 170 rs2128600 Benign
32376 P54577 (YARS1) E K 196 rs121908834 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) [MIM:608323]
32377 P54619 (PRKAG1) T S 89 rs1126930 Benign
32378 P54619 (PRKAG1) K N 329 rs34210356 Benign
32379 P54652 (HSPA2) C S 191 rs45456191 Benign
32380 P54652 (HSPA2) K E 496 rs45447398 Benign
32381 P54687 (BCAT1) T M 59 rs17374285 Benign
32382 P54687 (BCAT1) E K 321 rs7313020 Benign
32383 P54687 (BCAT1) G S 330 rs1057204 Benign
32384 P54707 (ATP12A) P L 863 rs2289909 Benign
32385 P54710 (FXYD2) G R 41 rs28938168 Disease: Hypomagnesem ia 2 (HOMG2) [MIM:154020]
32386 P54725 (RAD23A) T A 131 rs11558955 Benign
32387 P54725 (RAD23A) R Q 179 rs4987203 Benign
32388 P54725 (RAD23A) T M 200 rs4987202 Benign
32389 P54727 (RAD23B) A V 249 rs1805329 Benign
32390 P54753 (EPHB3) R C 440 rs56029711 Benign
32391 P54753 (EPHB3) I V 579 rs56103851 Benign
32392 P54753 (EPHB3) I L 601 rs56129875 Benign
32393 P54756 (EPHA5) N T 81 rs33932471 Benign
32394 P54756 (EPHA5) S A 235 rs55710198 Benign
32395 P54756 (EPHA5) E Q 330 rs56205382 Benign
32396 P54756 (EPHA5) Y C 506 rs56074660 Benign
32397 P54756 (EPHA5) A T 672 rs36050417 Benign
32398 P54756 (EPHA5) S T 673 rs56359290 Benign
32399 P54756 (EPHA5) H R 959 rs56312931 Benign
32400 P54760 (EPHB4) P L 67 rs34653459 Benign
32401 P54760 (EPHB4) V I 113 rs55866373 Benign
32402 P54760 (EPHB4) K R 162 rs17854760 Benign
32403 P54760 (EPHB4) A V 371 rs55720981 Benign
32404 P54760 (EPHB4) A G 509 rs146937374 Benign
32405 P54760 (EPHB4) D E 576 rs36050247 Benign
32406 P54760 (EPHB4) K N 650 - Disease: Capillary malformation -arterioveno us malformation 2 (CMAVM2) [MIM:618196]
32407 P54760 (EPHB4) E K 664 - Disease: Capillary malformation -arterioveno us malformation 2 (CMAVM2) [MIM:618196]
32408 P54760 (EPHB4) R H 678 rs55692440 Benign
32409 P54760 (EPHB4) R Q 739 rs1057519263 Disease: Lymphatic malformation 7 (LMPHM7) [MIM:617300]
32410 P54760 (EPHB4) N D 745 - Disease: Capillary malformation -arterioveno us malformation 2 (CMAVM2) [MIM:618196]
32411 P54760 (EPHB4) I S 782 rs1057519264 Disease: Lymphatic malformation 7 (LMPHM7) [MIM:617300]
32412 P54760 (EPHB4) D G 802 rs776410552 Disease: Capillary malformation -arterioveno us malformation 2 (CMAVM2) [MIM:618196]
32413 P54760 (EPHB4) R W 838 rs764827256 Disease: Capillary malformation -arterioveno us malformation 2 (CMAVM2) [MIM:618196]
32414 P54760 (EPHB4) C R 845 - Disease: Capillary malformation -arterioveno us malformation 2 (CMAVM2) [MIM:618196]
32415 P54760 (EPHB4) C Y 856 - Disease: Capillary malformation -arterioveno us malformation 2 (CMAVM2) [MIM:618196]
32416 P54760 (EPHB4) R W 864 rs769965440 Disease: Capillary malformation -arterioveno us malformation 2 (CMAVM2) [MIM:618196]
32417 P54760 (EPHB4) F L 867 - Disease: Capillary malformation -arterioveno us malformation 2 (CMAVM2) [MIM:618196]
32418 P54760 (EPHB4) A T 882 rs34918225 Benign
32419 P54760 (EPHB4) E D 890 rs35638378 Benign
32420 P54762 (EPHB1) M V 18 rs55650774 Benign
32421 P54762 (EPHB1) T S 87 rs1042794 Benign
32422 P54762 (EPHB1) G R 152 rs1042793 Benign
32423 P54762 (EPHB1) R G 367 rs1042789 Benign
32424 P54762 (EPHB1) T M 387 rs56396912 Benign
32425 P54762 (EPHB1) R S 485 rs1042788 Benign
32426 P54762 (EPHB1) M T 847 rs1042785 Benign
32427 P54762 (EPHB1) A T 912 rs56345346 Benign
32428 P54762 (EPHB1) R W 973 rs1042784 Benign
32429 P54762 (EPHB1) T M 981 rs56186270 Benign
32430 P54764 (EPHA4) R Q 269 rs35084379 Benign
32431 P54764 (EPHA4) R K 953 rs35341687 Benign
32432 P54793 (ARSF) H Y 527 rs1052638 Benign
32433 P54802 (NAGLU) L F 35 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32434 P54802 (NAGLU) R W 38 rs1460260015 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32435 P54802 (NAGLU) F C 48 rs867910252 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32436 P54802 (NAGLU) F L 48 rs104894599 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32437 P54802 (NAGLU) G S 69 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32438 P54802 (NAGLU) V G 77 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32439 P54802 (NAGLU) G C 79 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32440 P54802 (NAGLU) G S 79 rs1276484671 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32441 P54802 (NAGLU) G D 82 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32442 P54802 (NAGLU) Y H 92 rs1555621454 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32443 P54802 (NAGLU) H R 100 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32444 P54802 (NAGLU) P S 115 rs758785463 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32445 P54802 (NAGLU) R C 130 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32446 P54802 (NAGLU) Y C 140 rs753520553 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32447 P54802 (NAGLU) E K 153 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32448 P54802 (NAGLU) I R 154 rs770684838 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32449 P54802 (NAGLU) W C 156 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32450 P54802 (NAGLU) H P 227 rs747155746 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32451 P54802 (NAGLU) R C 234 rs104894601 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32452 P54802 (NAGLU) V M 241 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32453 P54802 (NAGLU) L P 242 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32454 P54802 (NAGLU) P L 243 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32455 P54802 (NAGLU) A P 246 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32456 P54802 (NAGLU) H R 248 rs1465855291 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32457 P54802 (NAGLU) W R 268 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32458 P54802 (NAGLU) C F 277 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32459 P54802 (NAGLU) L P 280 rs1392732615 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32460 P54802 (NAGLU) G R 292 rs1358994052 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32461 P54802 (NAGLU) Y C 309 rs1305299665 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32462 P54802 (NAGLU) F L 314 rs104894600 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32463 P54802 (NAGLU) V F 334 rs749140168 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32464 P54802 (NAGLU) Y C 335 rs768918822 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32465 P54802 (NAGLU) P L 358 rs368687817 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32466 P54802 (NAGLU) I T 403 rs796052122 Disease: Charcot- Marie-Tooth disease 2V (CMT2V) [MIM:616491]
32467 P54802 (NAGLU) F S 410 rs574688121 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32468 P54802 (NAGLU) G E 412 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32469 P54802 (NAGLU) H R 414 rs768814260 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32470 P54802 (NAGLU) T I 437 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32471 P54802 (NAGLU) E K 446 rs114625063 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32472 P54802 (NAGLU) E K 452 rs1183634153 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32473 P54802 (NAGLU) Y C 455 rs375103824 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32474 P54802 (NAGLU) W G 474 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32475 P54802 (NAGLU) R Q 482 rs200909691 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32476 P54802 (NAGLU) R W 482 rs104894596 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32477 P54802 (NAGLU) V G 501 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32478 P54802 (NAGLU) P L 516 rs773054539 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32479 P54802 (NAGLU) R W 520 rs992677795 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32480 P54802 (NAGLU) P L 521 rs104894595 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32481 P54802 (NAGLU) S Y 534 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32482 P54802 (NAGLU) L P 560 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32483 P54802 (NAGLU) L R 561 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32484 P54802 (NAGLU) R P 565 rs104894598 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32485 P54802 (NAGLU) R Q 565 rs104894598 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32486 P54802 (NAGLU) R W 565 rs104894597 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32487 P54802 (NAGLU) L P 591 rs1215582852 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32488 P54802 (NAGLU) S G 612 rs148881970 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32489 P54802 (NAGLU) L F 617 rs1555622482 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32490 P54802 (NAGLU) R C 643 rs104894594 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32491 P54802 (NAGLU) R H 643 rs104894593 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32492 P54802 (NAGLU) W C 649 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32493 P54802 (NAGLU) G E 650 rs527236037 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32494 P54802 (NAGLU) Y F 658 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32495 P54802 (NAGLU) A V 664 rs746006696 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32496 P54802 (NAGLU) R C 674 rs763299645 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32497 P54802 (NAGLU) R H 674 rs104894590 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32498 P54802 (NAGLU) R P 676 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32499 P54802 (NAGLU) L R 682 - Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32500 P54802 (NAGLU) E K 705 rs1364203992 Disease: Mucopolysacc haridosis 3B (MPS3B) [MIM:252920]
32501 P54802 (NAGLU) R G 737 rs86312 Benign
32502 P54803 (GALC) A P 21 rs111887056 Benign
32503 P54803 (GALC) G S 41 rs387906955 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32504 P54803 (GALC) G R 59 - Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32505 P54803 (GALC) S F 68 rs1555383892 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32506 P54803 (GALC) R H 79 rs370117160 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32507 P54803 (GALC) I M 82 - Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32508 P54803 (GALC) G D 111 rs746487628 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32509 P54803 (GALC) G S 111 rs756690487 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32510 P54803 (GALC) T A 112 rs147313927 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32511 P54803 (GALC) M L 117 rs145580093 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32512 P54803 (GALC) E K 130 rs374635469 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32513 P54803 (GALC) R C 184 rs1805078 Benign
32514 P54803 (GALC) D V 187 rs997021099 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32515 P54803 (GALC) G A 194 rs963756824 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32516 P54803 (GALC) D N 248 rs34362748 Benign
32517 P54803 (GALC) I T 250 rs886039569 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32518 P54803 (GALC) A T 263 rs1308816724 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32519 P54803 (GALC) T I 278 - Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32520 P54803 (GALC) G S 284 rs377274761 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32521 P54803 (GALC) G D 286 rs199847983 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32522 P54803 (GALC) N T 295 rs746922378 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32523 P54803 (GALC) S F 303 rs756352952 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32524 P54803 (GALC) I V 305 rs74887188 Benign
32525 P54803 (GALC) Y C 314 - Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32526 P54803 (GALC) P A 318 rs1057516642 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32527 P54803 (GALC) P R 318 rs387906954 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32528 P54803 (GALC) G R 323 rs1472207768 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32529 P54803 (GALC) Y C 335 rs757407613 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32530 P54803 (GALC) I T 384 rs1376496659 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32531 P54803 (GALC) R L 396 - Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32532 P54803 (GALC) R W 396 rs770485731 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32533 P54803 (GALC) P L 400 rs771232832 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32534 P54803 (GALC) W G 426 - Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32535 P54803 (GALC) Y N 490 rs202135871 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32536 P54803 (GALC) F S 514 rs375867319 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32537 P54803 (GALC) T M 529 rs200960659 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32538 P54803 (GALC) R C 531 rs749893889 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32539 P54803 (GALC) R H 531 rs200378205 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32540 P54803 (GALC) D N 544 rs387906952 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32541 P54803 (GALC) G R 553 rs748573754 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32542 P54803 (GALC) I T 562 rs398607 Benign
32543 P54803 (GALC) V G 566 - Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32544 P54803 (GALC) Y S 567 rs752537626 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32545 P54803 (GALC) A S 592 - Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32546 P54803 (GALC) I S 599 rs387906953 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32547 P54803 (GALC) L S 634 rs138577661 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32548 P54803 (GALC) T A 641 rs421262 Benign
32549 P54803 (GALC) L R 645 rs780593419 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32550 P54803 (GALC) T R 668 - Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32551 P54803 (GALC) V M 681 rs200607029 Disease: Leukodystrop hy, globoid cell (GLD) [MIM:245200]
32552 P54819 (AK2) R W 103 rs267606648 Disease: Reticular dysgenesis (RDYS) [MIM:267500]
32553 P54819 (AK2) D G 165 rs267606643 Disease: Reticular dysgenesis (RDYS) [MIM:267500]
32554 P54819 (AK2) A T 209 rs12116440 Benign
32555 P54821 (PRRX1) F S 113 rs387906667 Disease: Agnathia- otocephaly complex (AGOTC) [MIM:202650]
32556 P54829 (PTPN5) P A 170 rs4757707 Benign
32557 P54829 (PTPN5) H R 561 rs11024773 Benign
32558 P54840 (GYS2) N S 39 rs121918423 Disease: Glycogen storage disease 0 (GSD0) [MIM:240600]
32559 P54840 (GYS2) A T 193 rs16924038 Benign
32560 P54840 (GYS2) A P 339 rs121918421 Disease: Glycogen storage disease 0 (GSD0) [MIM:240600]
32561 P54840 (GYS2) M V 363 rs2306180 Benign
32562 P54840 (GYS2) D E 415 rs16924002 Benign
32563 P54840 (GYS2) H D 446 rs121918425 Disease: Glycogen storage disease 0 (GSD0) [MIM:240600]
32564 P54840 (GYS2) P Q 479 rs121918420 Disease: Glycogen storage disease 0 (GSD0) [MIM:240600]
32565 P54840 (GYS2) S P 483 rs121918424 Disease: Glycogen storage disease 0 (GSD0) [MIM:240600]
32566 P54840 (GYS2) M R 491 rs121918422 Disease: Glycogen storage disease 0 (GSD0) [MIM:240600]
32567 P54845 (NRL) S L 50 - Disease: Retinitis pigmentosa 27 (RP27) [MIM:613750]
32568 P54845 (NRL) S P 50 - Disease: Retinitis pigmentosa 27 (RP27) [MIM:613750]
32569 P54845 (NRL) S T 50 rs104894459 Disease: Retinitis pigmentosa 27 (RP27) [MIM:613750]
32570 P54845 (NRL) P L 51 - Disease: Retinitis pigmentosa 27 (RP27) [MIM:613750]
32571 P54845 (NRL) P S 51 rs794727281 Disease: Retinitis pigmentosa 27 (RP27) [MIM:613750]
32572 P54845 (NRL) P T 51 - Disease: Retinitis pigmentosa 27 (RP27) [MIM:613750]
32573 P54845 (NRL) P S 67 rs199691910 Disease: Retinitis pigmentosa 27 (RP27) [MIM:613750]
32574 P54845 (NRL) M T 96 rs397514516 Disease: Retinitis pigmentosa 27 (RP27) [MIM:613750]
32575 P54845 (NRL) L P 160 rs104894463 Disease: Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:613750]
32576 P54845 (NRL) R S 170 rs1173385399 Disease: Retinitis pigmentosa 27 (RP27) [MIM:613750]
32577 P54849 (EMP1) S N 57 rs34412222 Benign
32578 P54851 (EMP2) F L 7 rs730882194 Disease: Nephrotic syndrome 10 (NPHS10) [MIM:615861]
32579 P54851 (EMP2) A T 10 rs587777482 Disease: Nephrotic syndrome 10 (NPHS10) [MIM:615861]
32580 P54852 (EMP3) I V 125 rs4893 Benign
32581 P54855 (UGT2B15) Y D 85 rs1902023 Benign
32582 P54855 (UGT2B15) K T 523 rs4148269 Benign
32583 P54868 (HMGCS2) V M 54 rs28937320 Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32584 P54868 (HMGCS2) R W 112 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32585 P54868 (HMGCS2) V L 144 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32586 P54868 (HMGCS2) Y C 167 rs137852640 Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32587 P54868 (HMGCS2) G S 168 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32588 P54868 (HMGCS2) G D 169 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32589 P54868 (HMGCS2) F L 174 rs137852636 Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32590 P54868 (HMGCS2) W R 185 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32591 P54868 (HMGCS2) R H 188 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32592 P54868 (HMGCS2) G R 212 rs137852638 Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32593 P54868 (HMGCS2) G V 232 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32594 P54868 (HMGCS2) L S 266 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32595 P54868 (HMGCS2) M T 307 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32596 P54868 (HMGCS2) S P 360 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32597 P54868 (HMGCS2) G R 388 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32598 P54868 (HMGCS2) F T 470 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32599 P54868 (HMGCS2) R H 500 rs137852639 Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32600 P54868 (HMGCS2) Y C 503 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32601 P54868 (HMGCS2) R Q 505 - Disease: 3-hydroxy-3- methylglutar yl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
32602 P54886 (ALDH18A1) R Q 84 rs121434582 Disease: Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
32603 P54886 (ALDH18A1) G R 93 - Disease: Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
32604 P54886 (ALDH18A1) V A 120 rs863224945 Disease: Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
32605 P54886 (ALDH18A1) R H 128 rs768323248 Disease: Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
32606 P54886 (ALDH18A1) R L 138 rs863225045 Disease: Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
32607 P54886 (ALDH18A1) R Q 138 rs863225045 Disease: Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
32608 P54886 (ALDH18A1) R W 138 rs863225044 Disease: Cutis laxa, autosomal dominant, 3 (ADCL3) [MIM:616603]
32609 P54886 (ALDH18A1) V L 243 rs864321669 Disease: Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
32610 P54886 (ALDH18A1) R Q 252 rs864321670 Disease: Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
32611 P54886 (ALDH18A1) T I 299 rs2275272 Benign
32612 P54886 (ALDH18A1) S Y 372 rs3765571 Benign
32613 P54886 (ALDH18A1) L P 637 rs869320690 Disease: Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
32614 P54886 (ALDH18A1) S F 652 - Disease: Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
32615 P54886 (ALDH18A1) R L 665 rs766264810 Disease: Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
32616 P54886 (ALDH18A1) D H 715 rs752669339 Disease: Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
32617 P54886 (ALDH18A1) Y C 782 rs774047299 Disease: Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
32618 P54886 (ALDH18A1) H Y 784 rs121434583 Disease: Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
32619 P55000 (SLURP1) W R 15 rs121908318 Disease: Mal de Meleda (MDM) [MIM:248300]
32620 P55000 (SLURP1) R H 71 rs1448017161 Disease: Mal de Meleda (MDM) [MIM:248300]
32621 P55000 (SLURP1) R P 71 - Disease: Mal de Meleda (MDM) [MIM:248300]
32622 P55000 (SLURP1) C R 77 rs121908319 Disease: Mal de Meleda (MDM) [MIM:248300]
32623 P55000 (SLURP1) G R 86 rs28937888 Disease: Mal de Meleda (MDM) [MIM:248300]
32624 P55000 (SLURP1) C S 94 rs772388665 Disease: Mal de Meleda (MDM) [MIM:248300]
32625 P55000 (SLURP1) L P 98 - Disease: Mal de Meleda (MDM) [MIM:248300]
32626 P55000 (SLURP1) C Y 99 rs121908320 Disease: Mal de Meleda (MDM) [MIM:248300]
32627 P55008 (AIF1) G R 14 rs2736182 Benign
32628 P55017 (SLC12A3) T M 60 rs371443644 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32629 P55017 (SLC12A3) D H 62 rs757490496 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32630 P55017 (SLC12A3) D N 62 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32631 P55017 (SLC12A3) E K 68 rs763210286 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32632 P55017 (SLC12A3) H N 69 rs780502516 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32633 P55017 (SLC12A3) R Q 83 rs768527231 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32634 P55017 (SLC12A3) R W 83 rs201255508 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32635 P55017 (SLC12A3) H Y 90 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32636 P55017 (SLC12A3) E D 121 rs146632606 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32637 P55017 (SLC12A3) R C 135 rs749742102 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32638 P55017 (SLC12A3) R C 145 rs148945966 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32639 P55017 (SLC12A3) R H 145 rs374324018 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32640 P55017 (SLC12A3) I M 150 rs143714318 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32641 P55017 (SLC12A3) V M 153 rs779074538 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32642 P55017 (SLC12A3) I F 154 rs748547209 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32643 P55017 (SLC12A3) L P 157 rs775047246 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32644 P55017 (SLC12A3) R L 158 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32645 P55017 (SLC12A3) R Q 158 rs1274973729 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32646 P55017 (SLC12A3) T M 163 rs267607050 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32647 P55017 (SLC12A3) A V 166 rs779683214 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32648 P55017 (SLC12A3) W R 172 rs757792232 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32649 P55017 (SLC12A3) S L 178 rs772589653 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32650 P55017 (SLC12A3) T K 180 rs146158333 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32651 P55017 (SLC12A3) G D 186 rs759426055 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32652 P55017 (SLC12A3) I T 192 rs1231715433 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32653 P55017 (SLC12A3) T I 194 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32654 P55017 (SLC12A3) R Q 209 rs758035631 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32655 P55017 (SLC12A3) R W 209 rs28936388 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32656 P55017 (SLC12A3) L P 215 rs780594361 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32657 P55017 (SLC12A3) A T 226 rs774753202 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32658 P55017 (SLC12A3) G D 230 rs375990084 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32659 P55017 (SLC12A3) T R 235 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32660 P55017 (SLC12A3) D N 259 rs780461639 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32661 P55017 (SLC12A3) R H 261 rs914588619 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32662 P55017 (SLC12A3) A G 264 rs1529927 Benign
32663 P55017 (SLC12A3) L P 272 rs568513106 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32664 P55017 (SLC12A3) S Y 283 rs1380031877 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32665 P55017 (SLC12A3) K R 284 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32666 P55017 (SLC12A3) T M 304 rs755069436 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32667 P55017 (SLC12A3) T P 304 rs753840283 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32668 P55017 (SLC12A3) A V 313 rs140551719 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32669 P55017 (SLC12A3) G V 316 rs748920885 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32670 P55017 (SLC12A3) R W 321 rs150046661 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32671 P55017 (SLC12A3) R W 334 rs770702194 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32672 P55017 (SLC12A3) G A 342 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32673 P55017 (SLC12A3) P L 349 rs121909383 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32674 P55017 (SLC12A3) G E 374 rs773669504 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32675 P55017 (SLC12A3) G V 374 rs773669504 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32676 P55017 (SLC12A3) T M 382 rs187885782 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32677 P55017 (SLC12A3) T I 392 rs748575829 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32678 P55017 (SLC12A3) R C 399 rs775931992 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32679 P55017 (SLC12A3) C R 421 rs28936387 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32680 P55017 (SLC12A3) G S 439 rs759377924 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32681 P55017 (SLC12A3) N S 442 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32682 P55017 (SLC12A3) G E 463 rs1375515522 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32683 P55017 (SLC12A3) G R 463 rs374163823 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32684 P55017 (SLC12A3) A T 464 rs201945662 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32685 P55017 (SLC12A3) S C 475 rs373017321 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32686 P55017 (SLC12A3) K E 478 rs1355705043 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32687 P55017 (SLC12A3) D N 486 rs753523115 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32688 P55017 (SLC12A3) Y H 489 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32689 P55017 (SLC12A3) G C 496 rs777612082 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32690 P55017 (SLC12A3) R C 507 rs369510226 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32691 P55017 (SLC12A3) A T 523 rs781137708 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32692 P55017 (SLC12A3) N S 534 rs780433336 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32693 P55017 (SLC12A3) F L 536 rs748650798 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32694 P55017 (SLC12A3) L P 542 rs574357286 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32695 P55017 (SLC12A3) S G 546 rs1451284628 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32696 P55017 (SLC12A3) S L 555 rs148038173 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32697 P55017 (SLC12A3) P H 560 rs1402444800 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32698 P55017 (SLC12A3) P R 560 rs1402444800 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32699 P55017 (SLC12A3) A E 569 rs79351185 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32700 P55017 (SLC12A3) A V 569 rs79351185 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32701 P55017 (SLC12A3) V M 578 rs139329616 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32702 P55017 (SLC12A3) A V 588 rs121909382 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32703 P55017 (SLC12A3) G S 613 rs1222807128 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32704 P55017 (SLC12A3) S L 615 rs779160677 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32705 P55017 (SLC12A3) S W 615 rs779160677 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32706 P55017 (SLC12A3) L P 623 rs121909385 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32707 P55017 (SLC12A3) G V 630 rs121909384 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32708 P55017 (SLC12A3) R C 642 rs200697179 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32709 P55017 (SLC12A3) R G 642 rs200697179 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32710 P55017 (SLC12A3) R H 642 rs147901432 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32711 P55017 (SLC12A3) P L 643 rs140012781 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32712 P55017 (SLC12A3) V M 647 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32713 P55017 (SLC12A3) T R 649 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32714 P55017 (SLC12A3) R C 655 rs747249619 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32715 P55017 (SLC12A3) R H 655 rs121909380 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32716 P55017 (SLC12A3) R L 655 rs121909380 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32717 P55017 (SLC12A3) M I 672 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32718 P55017 (SLC12A3) V L 677 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32719 P55017 (SLC12A3) V M 677 rs771326058 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32720 P55017 (SLC12A3) A T 728 rs36049418 Benign
32721 P55017 (SLC12A3) G V 729 rs373901523 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32722 P55017 (SLC12A3) G R 731 rs752101663 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32723 P55017 (SLC12A3) P R 735 rs757761069 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32724 P55017 (SLC12A3) L R 738 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32725 P55017 (SLC12A3) G R 741 rs138977195 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32726 P55017 (SLC12A3) P L 751 rs368068353 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32727 P55017 (SLC12A3) S T 824 rs146845953 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32728 P55017 (SLC12A3) D N 839 rs1298687889 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32729 P55017 (SLC12A3) L F 849 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32730 P55017 (SLC12A3) L H 849 rs185927948 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32731 P55017 (SLC12A3) L P 850 rs121909379 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32732 P55017 (SLC12A3) R C 852 rs373899077 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32733 P55017 (SLC12A3) R H 852 rs751929135 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32734 P55017 (SLC12A3) R S 852 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32735 P55017 (SLC12A3) R K 854 rs8060046 Benign
32736 P55017 (SLC12A3) R C 862 rs754505583 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32737 P55017 (SLC12A3) G S 867 rs370301695 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32738 P55017 (SLC12A3) R H 871 - Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32739 P55017 (SLC12A3) M T 872 rs752124879 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32740 P55017 (SLC12A3) R Q 887 rs369360334 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32741 P55017 (SLC12A3) R Q 904 rs11643718 Benign
32742 P55017 (SLC12A3) R C 919 rs12708965 Benign
32743 P55017 (SLC12A3) R W 934 rs201721269 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32744 P55017 (SLC12A3) R Q 955 rs202114767 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32745 P55017 (SLC12A3) R G 958 rs773428143 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32746 P55017 (SLC12A3) G R 980 rs34803727 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32747 P55017 (SLC12A3) C Y 985 rs199849117 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32748 P55017 (SLC12A3) R Q 1009 rs370175770 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32749 P55017 (SLC12A3) Q R 1021 rs762026283 Disease: Gitelman syndrome (GTLMNS) [MIM:263800]
32750 P55039 (DRG2) T M 194 rs17855350 Benign
32751 P55039 (DRG2) S T 224 rs61256737 Benign
32752 P55040 (GEM) R G 43 rs2170363 Benign
32753 P55042 (RRAD) Q P 66 rs7198458 Benign
32754 P55055 (NR1H2) S F 2 rs41379547 Benign
32755 P55056 (APOC4) L P 36 rs1132899 Benign
32756 P55056 (APOC4) G D 52 rs12691089 Benign
32757 P55056 (APOC4) L R 96 rs5167 Benign
32758 P55056 (APOC4) Q L 126 rs5168 Benign
32759 P55058 (PLTP) S Y 124 rs11569636 Benign
32760 P55058 (PLTP) R Q 282 rs56126980 Benign
32761 P55058 (PLTP) R H 372 rs144710772 Benign
32762 P55058 (PLTP) R W 380 rs6065903 Benign
32763 P55058 (PLTP) M I 425 rs11569675 Benign
32764 P55058 (PLTP) F L 444 rs1804161 Benign
32765 P55058 (PLTP) T K 487 rs1056929 Benign
32766 P55060 (CSE1L) I V 754 rs2229042 Benign
32767 P55060 (CSE1L) V L 968 rs3505 Benign
32768 P55064 (AQP5) A E 38 rs398123054 Disease: Keratoderma, palmoplantar , Bothnian type (PPKB) [MIM:600231]
32769 P55064 (AQP5) I S 45 rs398123055 Disease: Keratoderma, palmoplantar , Bothnian type (PPKB) [MIM:600231]
32770 P55064 (AQP5) N D 123 rs398123057 Disease: Keratoderma, palmoplantar , Bothnian type (PPKB) [MIM:600231]
32771 P55064 (AQP5) I F 177 rs398123056 Disease: Keratoderma, palmoplantar , Bothnian type (PPKB) [MIM:600231]
32772 P55064 (AQP5) R C 188 rs368292687 Disease: Keratoderma, palmoplantar , Bothnian type (PPKB) [MIM:600231]
32773 P55072 (VCP) R G 95 rs121909332 Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32774 P55072 (VCP) G E 97 rs864309502 Disease: Charcot- Marie-Tooth disease 2Y (CMT2Y) [MIM:616687]
32775 P55072 (VCP) R C 155 rs121909330 Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32776 P55072 (VCP) R H 155 rs121909329 Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32777 P55072 (VCP) R L 155 - Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32778 P55072 (VCP) R P 155 rs121909329 Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32779 P55072 (VCP) R S 155 - Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32780 P55072 (VCP) R G 159 rs387906789 Disease: Amyotrophic lateral sclerosis 14, with or without frontotempor al dementia (ALS14) [MIM:613954]
32781 P55072 (VCP) R H 159 rs121909335 Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32782 P55072 (VCP) E K 185 rs864309501 Disease: Charcot- Marie-Tooth disease 2Y (CMT2Y) [MIM:616687]
32783 P55072 (VCP) R Q 191 rs121909334 Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32784 P55072 (VCP) L W 198 - Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32785 P55072 (VCP) A E 232 rs121909331 Disease: Inclusion body myopathy with early-onset Paget disease with or without frontotempor al dementia 1 (IBMPFD1) [MIM:167320]
32786 P55072 (VCP) D N 592 rs387906790 Disease: Amyotrophic lateral sclerosis 14, with or without frontotempor al dementia (ALS14) [MIM:613954]
32787 P55075 (FGF8) H N 14 rs137852659 Disease: Hypogonadotr opic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
32788 P55075 (FGF8) P L 26 rs137852660 Disease: Hypogonadotr opic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
32789 P55075 (FGF8) F L 40 rs137852661 Disease: Hypogonadotr opic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
32790 P55075 (FGF8) K E 89 rs137852662 Disease: Hypogonadotr opic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
32791 P55075 (FGF8) R G 116 rs137852663 Disease: Hypogonadotr opic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
32792 P55075 (FGF8) T M 218 rs137852664 Disease: Hypogonadotr opic hypogonadism 6 with or without anosmia (HH6) [MIM:612702]
32793 P55082 (MFAP3) S G 53 rs748271641 Benign
32794 P55083 (MFAP4) A V 173 rs17855749 Benign
32795 P55084 (HADHB) G D 59 - Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32796 P55084 (HADHB) R C 61 rs780351691 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32797 P55084 (HADHB) R H 61 rs121913132 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32798 P55084 (HADHB) R G 117 - Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32799 P55084 (HADHB) L P 121 rs773127211 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32800 P55084 (HADHB) T P 133 rs371159065 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32801 P55084 (HADHB) P S 209 rs17851200 Benign
32802 P55084 (HADHB) D G 242 rs1166120479 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32803 P55084 (HADHB) R H 247 rs121913133 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32804 P55084 (HADHB) D G 263 rs121913131 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32805 P55084 (HADHB) K R 277 rs57969630 Benign
32806 P55084 (HADHB) G D 280 rs751772298 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32807 P55084 (HADHB) P L 294 - Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32808 P55084 (HADHB) P R 294 - Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32809 P55084 (HADHB) G S 301 rs891954464 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32810 P55084 (HADHB) R K 444 rs121913134 Disease: Mitochondria l trifunctiona l protein deficiency (MTPD) [MIM:609015]
32811 P55085 (F2RL1) S F 21 rs2243072 Benign
32812 P55085 (F2RL1) N S 30 rs616235 Benign
32813 P55085 (F2RL1) R Q 270 rs2243062 Benign
32814 P55085 (F2RL1) T A 291 rs2243083 Benign
32815 P55103 (INHBC) R Q 322 rs2229357 Benign
32816 P55157 (MTTP) Q H 95 rs61733139 Benign
32817 P55157 (MTTP) E D 98 rs2306986 Benign
32818 P55157 (MTTP) I T 128 rs3816873 Benign
32819 P55157 (MTTP) N S 166 rs3792683 Benign
32820 P55157 (MTTP) V I 168 rs61750974 Benign
32821 P55157 (MTTP) D V 169 - Disease: Abetalipopro teinemia (ABL) [MIM:200100]
32822 P55157 (MTTP) Q E 244 rs17599091 Benign
32823 P55157 (MTTP) H Q 297 rs2306985 Benign
32824 P55157 (MTTP) D A 384 rs17029215 Benign
32825 P55157 (MTTP) L H 435 - Disease: Abetalipopro teinemia (ABL) [MIM:200100]
32826 P55157 (MTTP) Y H 528 rs1485375137 Disease: Abetalipopro teinemia (ABL) [MIM:200100]
32827 P55157 (MTTP) R C 540 rs372321643 Disease: Abetalipopro teinemia (ABL) [MIM:200100]
32828 P55157 (MTTP) R H 540 rs199422220 Disease: Abetalipopro teinemia (ABL) [MIM:200100]
32829 P55157 (MTTP) S I 590 rs199422222 Disease: Abetalipopro teinemia (ABL) [MIM:200100]
32830 P55157 (MTTP) G E 746 rs767833468 Disease: Abetalipopro teinemia (ABL) [MIM:200100]
32831 P55157 (MTTP) N Y 780 rs199422221 Disease: Abetalipopro teinemia (ABL) [MIM:200100]
32832 P55160 (NCKAP1L) T A 391 rs7311877 Benign
32833 P55160 (NCKAP1L) S L 402 rs2270581 Benign
32834 P55198 (MLLT6) A V 33 rs17855918 Benign
32835 P55198 (MLLT6) A T 198 rs2241012 Benign
32836 P55199 (ELL) S N 297 rs2303694 Benign
32837 P55199 (ELL) R W 387 rs35245196 Benign
32838 P55201 (BRPF1) P S 370 rs1057519509 Disease: Intellectual developmenta l disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]
32839 P55201 (BRPF1) C R 389 rs1057519515 Disease: Intellectual developmenta l disorder with dysmorphic facies and ptosis (IDDDFP) [MIM:617333]
32840 P55201 (BRPF1) G E 1117 rs1042294 Benign
32841 P55201 (BRPF1) H Q 1193 rs36081837 Benign
32842 P55210 (CASP7) D E 4 rs11555408 Benign
32843 P55210 (CASP7) D E 255 rs2227310 Benign
32844 P55211 (CASP9) A V 28 rs1052571 Benign
32845 P55211 (CASP9) S L 99 rs4646008 Benign
32846 P55211 (CASP9) T I 102 rs2308941 Benign
32847 P55211 (CASP9) L V 106 rs2308938 Benign
32848 P55211 (CASP9) E D 114 rs2020897 Benign
32849 P55211 (CASP9) F L 136 rs1132312 Benign
32850 P55211 (CASP9) R H 173 rs2308950 Benign
32851 P55211 (CASP9) G R 176 rs2308949 Benign
32852 P55211 (CASP9) I M 185 rs9282624 Benign
32853 P55211 (CASP9) R C 192 rs2308939 Benign
32854 P55211 (CASP9) Q R 221 rs1052576 Benign
32855 P55212 (CASP6) E K 35 rs11574697 Benign
32856 P55212 (CASP6) A T 109 rs5030674 Benign
32857 P55212 (CASP6) T S 182 rs5030593 Benign
32858 P55263 (ADK) G E 30 rs397514454 Disease: Hypermethion inemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
32859 P55263 (ADK) D A 235 rs397514453 Disease: Hypermethion inemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
32860 P55263 (ADK) A E 318 rs397514452 Disease: Hypermethion inemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
32861 P55265 (ADAR) R G 100 rs1466731 Benign
32862 P55265 (ADAR) P A 193 rs145588689 Disease: Aicardi- Goutieres syndrome 6 (AGS6) [MIM:615010]
32863 P55265 (ADAR) K R 384 rs2229857 Benign
32864 P55265 (ADAR) Y C 587 rs17843865 Benign
32865 P55265 (ADAR) A T 870 rs398122893 Disease: Aicardi- Goutieres syndrome 6 (AGS6) [MIM:615010]
32866 P55265 (ADAR) I T 872 rs398122897 Disease: Aicardi- Goutieres syndrome 6 (AGS6) [MIM:615010]
32867 P55265 (ADAR) R H 892 rs398122892 Disease: Aicardi- Goutieres syndrome 6 (AGS6) [MIM:615010]
32868 P55265 (ADAR) L P 923 rs28936680 Disease: Dyschromatos is symmetrica hereditaria (DSH) [MIM:127400]
32869 P55265 (ADAR) C F 966 - Disease: Dyschromatos is symmetrica hereditaria (DSH) [MIM:127400]
32870 P55265 (ADAR) K N 999 rs398122896 Disease: Aicardi- Goutieres syndrome 6 (AGS6) [MIM:615010]
32871 P55265 (ADAR) G R 1007 rs398122822 Disease: Aicardi- Goutieres syndrome 6 (AGS6) [MIM:615010]
32872 P55265 (ADAR) Y F 1112 rs398122895 Disease: Aicardi- Goutieres syndrome 6 (AGS6) [MIM:615010]
32873 P55265 (ADAR) D H 1113 rs398122894 Disease: Aicardi- Goutieres syndrome 6 (AGS6) [MIM:615010]
32874 P55265 (ADAR) R W 1155 rs1044845711 Disease: Dyschromatos is symmetrica hereditaria (DSH) [MIM:127400]
32875 P55265 (ADAR) F S 1165 rs28936681 Disease: Dyschromatos is symmetrica hereditaria (DSH) [MIM:127400]
32876 P55268 (LAMB2) H R 147 rs387906644 Disease: Nephrotic syndrome 5 with or without ocular abnormalitie s (NPHS5) [MIM:614199]
32877 P55268 (LAMB2) R Q 246 rs121912491 Disease: Pierson syndrome (PIERSS) [MIM:609049]
32878 P55268 (LAMB2) R W 246 rs121912488 Disease: Pierson syndrome (PIERSS) [MIM:609049]
32879 P55268 (LAMB2) C R 321 rs121912492 Disease: Pierson syndrome (PIERSS) [MIM:609049]
32880 P55268 (LAMB2) E K 987 rs34759087 Benign
32881 P55268 (LAMB2) N K 1380 rs267607207 Disease: Pierson syndrome (PIERSS) [MIM:609049]
32882 P55268 (LAMB2) L F 1393 rs267607208 Disease: Pierson syndrome (PIERSS) [MIM:609049]
32883 P55283 (CDH4) A V 141 rs34937312 Benign
32884 P55283 (CDH4) K R 625 rs6142884 Benign
32885 P55287 (CDH11) T M 255 rs35195 Benign
32886 P55287 (CDH11) M I 275 rs1130821 Benign
32887 P55287 (CDH11) S A 373 rs35213 Benign
32888 P55289 (CDH12) V M 68 rs4371716 Benign
32889 P55289 (CDH12) I V 284 rs17328673 Benign
32890 P55289 (CDH12) I T 475 rs12108814 Benign
32891 P55290 (CDH13) R C 65 rs368685803 Benign
32892 P55290 (CDH13) A V 103 rs199539898 Benign
32893 P55290 (CDH13) G R 113 rs183971768 Benign
32894 P55290 (CDH13) L S 121 rs7197352 Benign
32895 P55290 (CDH13) R W 246 rs377210458 Benign
32896 P55290 (CDH13) E Q 367 rs200000145 Benign
32897 P55290 (CDH13) A T 376 rs35549391 Benign
32898 P55290 (CDH13) L R 643 rs34106627 Benign
32899 P55291 (CDH15) R C 60 rs121434539 Disease: Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]
32900 P55291 (CDH15) R W 92 rs121434540 Disease: Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]
32901 P55291 (CDH15) A V 122 rs121434541 Disease: Mental retardation, autosomal dominant 3 (MRD3) [MIM:612580]
32902 P55316 (FOXG1) P L 109 rs398124203 Benign
32903 P55316 (FOXG1) F L 215 rs267606828 Disease: Rett syndrome congenital variant (RTTCV) [MIM:613454]
32904 P55316 (FOXG1) N S 232 - Disease: -
32905 P55316 (FOXG1) R C 244 rs786205009 Disease: Rett syndrome congenital variant (RTTCV) [MIM:613454]
32906 P55317 (FOXA1) G A 72 - Benign
32907 P55317 (FOXA1) A T 83 rs7144658 Benign
32908 P55317 (FOXA1) G E 87 rs35220193 Benign
32909 P55317 (FOXA1) Q R 185 - Benign
32910 P55317 (FOXA1) S N 448 rs33984772 Benign
32911 P55318 (FOXA3) G R 91 rs758330593 Benign
32912 P55327 (TPD52) D Y 52 rs35099105 Benign
32913 P55344 (LIM2) F V 105 rs121913555 Disease: Cataract, multiple types 19 (CTRCT19) [MIM:615277]
32914 P55347 (PKNOX1) R H 126 rs9976017 Benign
32915 P55347 (PKNOX1) T A 216 rs17115709 Benign
32916 P55735 (SEC13) S L 172 rs34078590 Benign
32917 P55769 (SNU13) T N 19 rs1802521 Benign
32918 P55771 (PAX9) G S 51 rs104894469 Disease: Tooth agenesis, selective, 3 (STHAG3) [MIM:604625]
32919 P55771 (PAX9) A P 240 rs4904210 Benign
32920 P55773 (CCL23) V M 106 rs1003645 Benign
32921 P55789 (GFER) F L 166 rs36041021 Benign
32922 P55789 (GFER) R H 194 rs121908192 Disease: Myopathy, mitochondria l progressive, with congenital cataract, hearing loss and developmenta l delay (MPMCHD) [MIM:613076]
32923 P55795 (HNRNPH2) R Q 206 rs886039764 Disease: Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]
32924 P55795 (HNRNPH2) R W 206 rs886039763 Disease: Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]
32925 P55795 (HNRNPH2) P L 209 rs1555988417 Disease: Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]
32926 P55808 (XG) D N 60 rs5939319 Benign
32927 P55809 (OXCT1) T M 58 rs75134564 Benign
32928 P55809 (OXCT1) V E 133 rs267606930 Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32929 P55809 (OXCT1) A V 215 rs201752548 Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32930 P55809 (OXCT1) G E 219 rs121909302 Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32931 P55809 (OXCT1) V M 221 rs121909303 Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32932 P55809 (OXCT1) S N 226 rs368841359 Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32933 P55809 (OXCT1) G E 324 rs121909301 Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32934 P55809 (OXCT1) L P 327 - Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32935 P55809 (OXCT1) V F 404 - Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32936 P55809 (OXCT1) S P 405 - Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32937 P55809 (OXCT1) C F 456 rs121909300 Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32938 P55809 (OXCT1) R C 468 rs1327401976 Disease: Succinyl-CoA :3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
32939 P55822 (SH3BGR) D E 23 rs11575939 Benign
32940 P55822 (SH3BGR) D N 50 rs6517549 Benign
32941 P55822 (SH3BGR) V A 188 rs9974333 Benign
32942 P55851 (UCP2) A V 55 rs660339 Benign
32943 P55851 (UCP2) R Q 76 rs45541732 Benign
32944 P55851 (UCP2) R Q 154 rs45486692 Benign
32945 P55851 (UCP2) A G 268 rs45490393 Benign
32946 P55851 (UCP2) S C 282 rs45596837 Benign
32947 P55854 (SUMO3) P S 38 rs1051311 Benign
32948 P55884 (EIF3B) S P 64 rs9690787 Benign
32949 P55884 (EIF3B) D E 793 rs1063257 Benign
32950 P55895 (RAG2) C W 41 rs121917895 Disease: Omenn syndrome (OS) [MIM:603554]
32951 P55895 (RAG2) T N 77 rs121918574 Disease: Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
32952 P55895 (RAG2) R Q 229 rs121917894 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- positive (T(-)B(-)NK( +) SCID) [MIM:601457]
32953 P55895 (RAG2) M R 285 rs121917896 Disease: Omenn syndrome (OS) [MIM:603554]
32954 P55895 (RAG2) E G 293 rs16929093 Benign
32955 P55895 (RAG2) G A 451 rs121918575 Disease: Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
32956 P55895 (RAG2) C Y 478 rs121918573 Disease: Severe combined immunodefici ency autosomal recessive T-cell- negative/B -cell- negative/NK- cell- positive (T(-)B(-)NK( +) SCID) [MIM:601457]
32957 P55916 (UCP3) V M 9 rs8179180 Benign
32958 P55916 (UCP3) R W 70 rs17848368 Benign
32959 P55916 (UCP3) V I 102 rs2229707 Disease: Obesity (OBESITY) [MIM:601665]
32960 P55957 (BID) S G 10 rs8190315 Benign
32961 P55957 (BID) H Q 162 rs17853595 Benign
32962 P55957 (BID) M T 194 rs59225839 Benign
32963 P56159 (GFRA1) Y N 85 rs8192662 Benign
32964 P56159 (GFRA1) T A 366 rs2072276 Benign
32965 P56159 (GFRA1) L R 371 rs924541616 Benign
32966 P56177 (DLX1) S C 136 rs17853565 Benign
32967 P56178 (DLX5) Q P 178 rs387906737 Disease: Split- hand/foot malformation 1 with sensorineura l hearing loss, autosomal recessive (SHFM1D) [MIM:220600]
32968 P56178 (DLX5) S R 234 rs35273378 Benign
32969 P56180 (TPTE) R Q 195 rs1810856 Benign
32970 P56180 (TPTE) K E 386 rs212146 Benign
32971 P56180 (TPTE) L P 470 rs150482 Benign
32972 P56180 (TPTE) Y S 482 rs9996 Benign
32973 P56180 (TPTE) G E 549 rs169758 Benign
32974 P56182 (RRP1) I V 194 rs34224504 Benign
32975 P56182 (RRP1) K R 326 rs915770 Benign
32976 P56192 (MARS1) P L 206 rs138776588 Benign
32977 P56192 (MARS1) Y C 344 rs766466297 Disease: Interstitial lung and liver disease (ILLD) [MIM:615486]
32978 P56192 (MARS1) F L 370 rs140467171 Disease: Interstitial lung and liver disease (ILLD) [MIM:615486]
32979 P56192 (MARS1) A T 393 rs141340466 Disease: Interstitial lung and liver disease (ILLD) [MIM:615486]
32980 P56192 (MARS1) I T 523 rs201555303 Disease: Interstitial lung and liver disease (ILLD) [MIM:615486]
32981 P56192 (MARS1) S L 567 rs143592405 Disease: Interstitial lung and liver disease (ILLD) [MIM:615486]
32982 P56192 (MARS1) D V 605 rs756021768 Disease: Interstitial lung and liver disease (ILLD) [MIM:615486]
32983 P56192 (MARS1) R C 618 rs587777718 Disease: Charcot- Marie-Tooth disease 2U (CMT2U) [MIM:616280]
32984 P56192 (MARS1) A D 683 rs1054403 Benign
32985 P56192 (MARS1) R Q 727 rs113808165 Benign
32986 P56192 (MARS1) P T 800 rs781249411 Disease: Charcot- Marie-Tooth disease 2U (CMT2U) [MIM:616280]
32987 P56199 (ITGA1) T M 480 rs4145748 Benign
32988 P56199 (ITGA1) V I 670 rs2279587 Benign
32989 P56199 (ITGA1) I M 961 rs12520591 Benign
32990 P56199 (ITGA1) E G 1108 rs988574 Benign
32991 P56202 (CTSW) S G 139 rs604630 Benign
32992 P56202 (CTSW) Q R 218 rs606830 Benign
32993 P56279 (TCL1A) V I 56 rs17093294 Benign
32994 P56282 (POLE2) H P 84 rs34857719 Benign
32995 P56282 (POLE2) L V 456 rs34574266 Benign
32996 P56282 (POLE2) P L 514 rs45515094 Benign
32997 P56373 (P2RX3) A V 383 rs2276038 Benign
32998 P56378 (ATP5MPL) I V 9 rs1053419 Benign
32999 P56381 (ATP5F1E) Y C 12 rs387906929 Disease: Mitochondria l complex V deficiency, nuclear type 3 (MC5DN3) [MIM:614053]
33000 P56470 (LGALS4) T M 16 rs8106404 Benign
33001 P56524 (HDAC4) V I 754 rs151043798 Benign
33002 P56539 (CAV3) V L 14 rs121909281 Disease: Sudden infant death syndrome (SIDS) [MIM:272120]
33003 P56539 (CAV3) R Q 27 rs116840778 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33004 P56539 (CAV3) D E 28 rs116840782 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33005 P56539 (CAV3) P L 29 rs116840786 Disease: HyperCKmia (HYPCK) [MIM:123320]
33006 P56539 (CAV3) N K 33 rs1008642 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33007 P56539 (CAV3) V E 44 rs116840788 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33008 P56539 (CAV3) A T 46 rs116840789 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33009 P56539 (CAV3) A V 46 rs116840773 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33010 P56539 (CAV3) S G 53 rs116840794 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33011 P56539 (CAV3) G S 56 rs72546667 Benign
33012 P56539 (CAV3) V M 57 rs116840795 Disease: HyperCKmia (HYPCK) [MIM:123320]
33013 P56539 (CAV3) S R 61 rs116840796 Benign
33014 P56539 (CAV3) T P 64 rs199476332 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33015 P56539 (CAV3) T S 64 rs121909280 Disease: Cardiomyopat hy, familial hypertrophic (CMH) [MIM:192600]
33016 P56539 (CAV3) C W 72 rs116840776 Benign
33017 P56539 (CAV3) T M 78 rs72546668 Disease: Sudden infant death syndrome (SIDS) [MIM:272120]
33018 P56539 (CAV3) L R 79 rs121909282 Disease: Sudden infant death syndrome (SIDS) [MIM:272120]
33019 P56539 (CAV3) A T 85 rs104893715 Disease: Long QT syndrome 9 (LQT9) [MIM:611818]
33020 P56539 (CAV3) L P 87 rs28936685 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33021 P56539 (CAV3) A T 93 rs28936686 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33022 P56539 (CAV3) F C 97 rs104893714 Disease: Long QT syndrome 9 (LQT9) [MIM:611818]
33023 P56539 (CAV3) P L 105 rs116840805 Disease: Rippling muscle disease 2 (RMD2) [MIM:606072]
33024 P56539 (CAV3) R H 126 rs116840777 Benign
33025 P56539 (CAV3) S R 141 rs104893713 Disease: Long QT syndrome 9 (LQT9) [MIM:611818]
33026 P56556 (NDUFA6) A V 9 rs1801311 Benign
33027 P56556 (NDUFA6) R P 64 - Disease: Mitochondria l complex I deficiency, nuclear type 33 (MC1DN33) [MIM:618253]
33028 P56589 (PEX3) Q R 82 rs35220041 Benign
33029 P56589 (PEX3) G E 138 - Disease: Peroxisome biogenesis disorder 10A (PBD10A) [MIM:614882]
33030 P56589 (PEX3) G R 331 rs1057523689 Disease: Peroxisome biogenesis disorder 10B (PBD10B) [MIM:617370]
33031 P56645 (PER3) P A 414 rs150812083 Benign
33032 P56645 (PER3) H R 416 rs139315125 Benign
33033 P56645 (PER3) V G 639 rs10462020 Benign
33034 P56645 (PER3) L P 827 rs228696 Benign
33035 P56645 (PER3) P A 856 rs228697 Benign
33036 P56645 (PER3) A T 1007 rs1776342 Benign
33037 P56645 (PER3) T I 1010 rs12033719 Benign
33038 P56645 (PER3) M T 1028 rs2640909 Benign
33039 P56645 (PER3) S C 1081 rs2640905 Benign
33040 P56645 (PER3) H R 1149 rs10462021 Benign
33041 P56693 (SOX10) R W 106 - Disease: Waardenburg syndrome 4C (WS4C) [MIM:613266]
33042 P56693 (SOX10) M I 112 - Disease: Waardenburg syndrome 2E (WS2E) [MIM:611584]
33043 P56693 (SOX10) N H 131 - Disease: Peripheral demyelinatin g neuropathy, central dysmyelinati ng leukodystrop hy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
33044 P56693 (SOX10) S T 135 rs74315515 Disease: Waardenburg syndrome 2E (WS2E) [MIM:611584]
33045 P56693 (SOX10) L P 145 - Disease: Waardenburg syndrome 4C (WS4C) [MIM:613266]
33046 P56693 (SOX10) K N 150 - Disease: Peripheral demyelinatin g neuropathy, central dysmyelinati ng leukodystrop hy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
33047 P56693 (SOX10) R C 151 rs1463736052 Benign
33048 P56693 (SOX10) A V 157 rs121909117 Disease: Waardenburg syndrome 4C (WS4C) [MIM:613266]
33049 P56693 (SOX10) R H 161 rs750566714 Disease: Waardenburg syndrome 2E (WS2E) [MIM:611584]
33050 P56693 (SOX10) Q P 174 rs267607081 Disease: Peripheral demyelinatin g neuropathy, central dysmyelinati ng leukodystrop hy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
33051 P56693 (SOX10) P A 175 - Disease: Peripheral demyelinatin g neuropathy, central dysmyelinati ng leukodystrop hy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
33052 P56693 (SOX10) P L 175 - Disease: Peripheral demyelinatin g neuropathy, central dysmyelinati ng leukodystrop hy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
33053 P56693 (SOX10) P R 175 - Disease: Peripheral demyelinatin g neuropathy, central dysmyelinati ng leukodystrop hy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
33054 P56693 (SOX10) G R 321 - Disease: Peripheral demyelinatin g neuropathy, central dysmyelinati ng leukodystrop hy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136]
33055 P56696 (KCNQ4) L H 274 rs80358276 Disease: Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
33056 P56696 (KCNQ4) W S 276 rs80358277 Disease: Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
33057 P56696 (KCNQ4) L S 281 rs80358278 Disease: Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
33058 P56696 (KCNQ4) G C 285 rs28937588 Disease: Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
33059 P56696 (KCNQ4) G S 285 rs28937588 Disease: Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
33060 P56696 (KCNQ4) G R 287 rs137853969 Disease: Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
33061 P56696 (KCNQ4) G S 321 rs28939710 Disease: Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
33062 P56696 (KCNQ4) H Q 455 rs34287852 Benign
33063 P56705 (WNT4) L P 12 rs121908653 Disease: Mullerian aplasia and hyperandroge nism (MULLAPL) [MIM:158330]
33064 P56705 (WNT4) R C 83 - Disease: Mullerian aplasia and hyperandroge nism (MULLAPL) [MIM:158330]
33065 P56705 (WNT4) A V 114 rs121908651 Disease: 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs (SERKAL) [MIM:611812]
33066 P56705 (WNT4) E G 216 rs121908650 Disease: Mullerian aplasia and hyperandroge nism (MULLAPL) [MIM:158330]
33067 P56705 (WNT4) P L 277 rs34228276 Benign
33068 P56715 (RP1) R G 168 rs1422215201 Benign
33069 P56715 (RP1) L R 172 rs180729424 Disease: Retinitis pigmentosa 1 (RP1) [MIM:180100]
33070 P56715 (RP1) D E 202 - Disease: Retinitis pigmentosa 1 (RP1) [MIM:180100]
33071 P56715 (RP1) A T 218 rs145691085 Benign
33072 P56715 (RP1) Y C 251 rs16920614 Benign
33073 P56715 (RP1) R L 376 rs1166678265 Benign
33074 P56715 (RP1) I L 408 - Benign
33075 P56715 (RP1) A T 669 rs201725231 Disease: Retinitis pigmentosa 1 (RP1) [MIM:180100]
33076 P56715 (RP1) G R 706 rs199879316 Benign
33077 P56715 (RP1) C W 727 - Benign
33078 P56715 (RP1) T M 752 rs28399531 Benign
33079 P56715 (RP1) R H 872 rs444772 Benign
33080 P56715 (RP1) K N 900 - Disease: Retinitis pigmentosa 1 (RP1) [MIM:180100]
33081 P56715 (RP1) V L 945 rs16920621 Benign
33082 P56715 (RP1) D G 984 rs200135800 Disease: Retinitis pigmentosa 1 (RP1) [MIM:180100]
33083 P56715 (RP1) N Y 985 rs2293869 Benign
33084 P56715 (RP1) D G 1072 rs756775228 Benign
33085 P56715 (RP1) L S 1356 - Benign
33086 P56715 (RP1) L P 1417 rs139294220 Benign
33087 P56715 (RP1) L P 1425 rs1338252422 Benign
33088 P56715 (RP1) R Q 1595 rs35084330 Benign
33089 P56715 (RP1) A T 1670 rs446227 Benign
33090 P56715 (RP1) S P 1691 rs414352 Benign
33091 P56715 (RP1) P S 1793 rs143088423 Benign
33092 P56715 (RP1) F L 1935 rs140137224 Benign
33093 P56715 (RP1) C Y 2033 rs61739567 Benign
33094 P56715 (RP1) D N 2066 rs149282954 Benign
33095 P56715 (RP1) T N 2113 rs137887415 Disease: Retinitis pigmentosa 1 (RP1) [MIM:180100]
33096 P56730 (PRSS12) A S 606 rs28661939 Benign
33097 P56730 (PRSS12) R Q 833 rs17594503 Benign
33098 P56747 (CLDN6) I V 143 rs2257295 Benign
33099 P56748 (CLDN8) T A 25 rs1557294 Benign
33100 P56748 (CLDN8) T A 129 rs685967 Benign
33101 P56748 (CLDN8) S P 151 rs686364 Benign
33102 P56750 (CLDN17) A T 82 rs35531957 Benign
33103 P56817 (BACE1) V A 265 rs28989503 Benign
33104 P56817 (BACE1) R C 481 rs539765 Benign
33105 P56851 (EDDM3B) L V 5 rs3827906 Benign
33106 P56856 (CLDN18) M L 149 rs17204075 Benign
33107 P56945 (BCAR1) P S 76 rs1035539 Benign
33108 P56945 (BCAR1) R L 491 rs16957558 Benign
33109 P56945 (BCAR1) H R 558 rs16957552 Benign
33110 P56975 (NRG3) S R 472 rs2295934 Benign
33111 P56975 (NRG3) K N 552 rs17101193 Benign
33112 P57052 (RBM11) L V 116 rs409782 Benign
33113 P57054 (PIGP) T A 9 rs2507733 Benign
33114 P57054 (PIGP) M T 25 rs768633670 Disease: Epileptic encephalopat hy, early infantile, 55 (EIEE55) [MIM:617599]
33115 P57054 (PIGP) Y C 118 rs16994704 Benign
33116 P57054 (PIGP) R S 136 rs2276231 Benign
33117 P57057 (SLC37A1) D N 247 rs768541152 Benign
33118 P57057 (SLC37A1) V I 414 rs228104 Benign
33119 P57058 (HUNK) R W 157 rs35133981 Benign
33120 P57058 (HUNK) R C 591 rs10775648 Benign
33121 P57058 (HUNK) E K 625 rs56021554 Benign
33122 P57058 (HUNK) M T 648 rs56240027 Benign
33123 P57059 (SIK1) G S 15 rs3746951 Benign
33124 P57059 (SIK1) D N 142 rs45491503 Benign
33125 P57059 (SIK1) P T 287 rs786205159 Disease: Epileptic encephalopat hy, early infantile, 30 (EIEE30) [MIM:616341]
33126 P57059 (SIK1) S C 411 - Disease: Epileptic encephalopat hy, early infantile, 30 (EIEE30) [MIM:616341]
33127 P57059 (SIK1) R W 430 rs34164089 Benign
33128 P57059 (SIK1) A V 615 rs430554 Benign
33129 P57059 (SIK1) G S 636 rs786205163 Disease: Epileptic encephalopat hy, early infantile, 30 (EIEE30) [MIM:616341]
33130 P57059 (SIK1) P L 696 rs56386767 Benign
33131 P57059 (SIK1) A V 725 rs35596465 Benign
33132 P57071 (PRDM15) V I 1342 rs3819158 Benign
33133 P57071 (PRDM15) T S 1376 rs2236695 Benign
33134 P57071 (PRDM15) S P 1481 rs3850706 Benign
33135 P57075 (UBASH3A) S G 18 rs2277798 Benign
33136 P57075 (UBASH3A) L F 28 rs2277800 Benign
33137 P57075 (UBASH3A) Q R 286 rs775952011 Benign
33138 P57075 (UBASH3A) R L 324 rs13048049 Benign
33139 P57075 (UBASH3A) R Q 324 rs13048049 Benign
33140 P57075 (UBASH3A) D E 466 rs17114930 Benign
33141 P57076 (CFAP298) R W 33 rs753786167 Benign
33142 P57076 (CFAP298) D Y 173 rs540473945 Benign
33143 P57077 (MAP3K7CL) I V 112 rs3746843 Benign
33144 P57078 (RIPK4) A G 12 rs6586239 Benign
33145 P57078 (RIPK4) I N 81 rs387906922 Disease: Bartsocas- Papas syndrome (BPS) [MIM:263650]
33146 P57078 (RIPK4) I N 121 rs387906923 Disease: Bartsocas- Papas syndrome (BPS) [MIM:263650]
33147 P57078 (RIPK4) S N 177 rs12482626 Benign
33148 P57078 (RIPK4) T I 184 - Disease: Bartsocas- Papas syndrome (BPS) [MIM:263650]
33149 P57078 (RIPK4) I N 462 rs55809511 Benign
33150 P57078 (RIPK4) V M 463 rs55645753 Benign
33151 P57078 (RIPK4) N Y 562 rs55829311 Benign
33152 P57078 (RIPK4) R H 669 rs56056485 Benign
33153 P57078 (RIPK4) P S 749 rs35537517 Benign
33154 P57081 (WDR4) K N 71 rs2248490 Benign
33155 P57081 (WDR4) R L 170 - Disease: Microcephaly , growth deficiency, seizures, and brain malformation s (MIGSB) [MIM:618346]
33156 P57081 (WDR4) R Q 170 rs1292041526 Disease: Galloway- Mowat syndrome 6 (GAMOS6) [MIM:618347]
33157 P57081 (WDR4) P S 266 rs15736 Benign
33158 P57081 (WDR4) R Q 390 rs6586250 Benign
33159 P57082 (TBX4) G A 6 rs3744448 Benign
33160 P57082 (TBX4) A V 35 rs148424252 Benign
33161 P57082 (TBX4) G V 248 rs28938474 Disease: Ischiocoxopo dopatellar syndrome with or without pulmonary arterial hypertension (ICPPS) [MIM:147891]
33162 P57082 (TBX4) P T 282 - Benign
33163 P57082 (TBX4) A V 314 rs3744438 Benign
33164 P57082 (TBX4) Q R 531 rs28936696 Disease: Ischiocoxopo dopatellar syndrome with or without pulmonary arterial hypertension (ICPPS) [MIM:147891]
33165 P57087 (JAM2) S R 286 rs9976382 Benign
33166 P57105 (SYNJ2BP) V I 9 rs4356408 Benign
33167 P57678 (GEMIN4) F L 182 rs34604548 Benign
33168 P57678 (GEMIN4) I V 502 rs34616851 Benign
33169 P57678 (GEMIN4) A G 579 rs910925 Benign
33170 P57678 (GEMIN4) R Q 684 rs3744741 Benign
33171 P57678 (GEMIN4) I T 739 rs1062923 Benign
33172 P57678 (GEMIN4) P L 749 rs8078660 Benign
33173 P57678 (GEMIN4) F L 782 rs34452716 Benign
33174 P57678 (GEMIN4) V F 824 rs34936176 Benign
33175 P57678 (GEMIN4) V I 913 rs34610323 Benign
33176 P57678 (GEMIN4) R C 1033 rs7813 Benign
33177 P57679 (EVC) Q P 74 rs2291157 Benign
33178 P57679 (EVC) A V 114 rs16837598 Benign
33179 P57679 (EVC) S N 206 rs1017946059 Disease: Ellis-van Creveld syndrome (EVC) [MIM:225500]
33180 P57679 (EVC) Y H 258 rs6414624 Benign
33181 P57679 (EVC) S P 307 rs121908426 Disease: Acrofacial dysostosis, Weyers type (WAD) [MIM:193530]
33182 P57679 (EVC) T M 372 rs28483498 Benign
33183 P57679 (EVC) G S 403 rs183114391 Benign
33184 P57679 (EVC) R Q 443 rs35953626 Disease: Ellis-van Creveld syndrome (EVC) [MIM:225500]
33185 P57679 (EVC) T K 449 rs2302075 Benign
33186 P57679 (EVC) R Q 576 rs1383180 Benign
33187 P57679 (EVC) L P 623 rs1373632260 Disease: Ellis-van Creveld syndrome (EVC) [MIM:225500]
33188 P57679 (EVC) R Q 760 rs2279252 Benign
33189 P57679 (EVC) D G 953 - Benign
33190 P57682 (KLF3) R S 207 rs17616226 Benign
33191 P57723 (PCBP4) G S 198 rs323872 Benign
33192 P57727 (TMPRSS3) V I 53 rs928302 Benign
33193 P57727 (TMPRSS3) D G 103 rs387906915 Disease: Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
33194 P57727 (TMPRSS3) R W 109 rs201632198 Disease: Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
33195 P57727 (TMPRSS3) G S 111 rs35227181 Benign
33196 P57727 (TMPRSS3) D N 173 rs766000719 Benign
33197 P57727 (TMPRSS3) C F 194 rs1333651774 Disease: Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
33198 P57727 (TMPRSS3) R L 216 rs137853000 Disease: Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
33199 P57727 (TMPRSS3) W C 251 rs137852999 Disease: Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
33200 P57727 (TMPRSS3) I V 253 rs2839500 Benign
33201 P57727 (TMPRSS3) P L 404 rs28939084 Disease: Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
33202 P57727 (TMPRSS3) C R 407 rs773780151 Disease: Deafness, autosomal recessive, 8 (DFNB8) [MIM:601072]
33203 P57727 (TMPRSS3) A T 426 rs56264519 Benign
33204 P57737 (CORO7) A V 174 rs17137007 Benign
33205 P57737 (CORO7) R Q 193 rs3747579 Benign
33206 P57737 (CORO7) L S 257 rs35357594 Benign
33207 P57737 (CORO7) A T 403 rs9928967 Benign
33208 P57740 (NUP107) M I 101 rs730882216 Disease: Galloway- Mowat syndrome 7 (GAMOS7) [MIM:618348]
33209 P57740 (NUP107) D Y 157 rs864321633 Disease: Nephrotic syndrome 11 (NPHS11) [MIM:616730]
33210 P57740 (NUP107) D N 447 rs1555178358 Disease: Ovarian dysgenesis 6 (ODG6) [MIM:618078]
33211 P57740 (NUP107) D A 831 rs864321632 Disease: Nephrotic syndrome 11 (NPHS11) [MIM:616730]
33212 P57740 (NUP107) Y C 889 - Disease: Nephrotic syndrome 11 (NPHS11) [MIM:616730]
33213 P57768 (SNX16) P L 98 rs16919654 Benign
33214 P57772 (EEFSEC) A V 435 rs34326479 Benign
33215 P57773 (GJA9) V I 497 rs880303 Benign
33216 P57789 (KCNK10) K Q 70 rs398263 Benign
33217 P57789 (KCNK10) A T 512 rs17762463 Benign
33218 P57796 (CABP4) R C 124 rs121917828 Disease: Cone-rod synaptic disorder, congenital non- progressive (CRSD) [MIM:610427]
33219 P58004 (SESN2) T A 320 rs2274848 Benign
33220 P58005 (SESN3) R C 71 rs10160385 Benign
33221 P58005 (SESN3) I T 227 rs11021069 Benign
33222 P58012 (FOXL2) S L 58 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33223 P58012 (FOXL2) I T 63 rs1315073489 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33224 P58012 (FOXL2) M V 65 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33225 P58012 (FOXL2) A V 66 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33226 P58012 (FOXL2) E K 69 rs387906920 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33227 P58012 (FOXL2) I T 80 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33228 P58012 (FOXL2) I N 84 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33229 P58012 (FOXL2) I S 84 rs28937884 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33230 P58012 (FOXL2) F S 90 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33231 P58012 (FOXL2) W G 98 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33232 P58012 (FOXL2) W R 98 rs1057516149 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33233 P58012 (FOXL2) S R 101 rs1057516151 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33234 P58012 (FOXL2) I T 102 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33235 P58012 (FOXL2) R C 103 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33236 P58012 (FOXL2) H R 104 rs1057516153 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33237 P58012 (FOXL2) N S 105 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33238 P58012 (FOXL2) L F 106 rs1057516156 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33239 P58012 (FOXL2) L P 106 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33240 P58012 (FOXL2) L P 108 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33241 P58012 (FOXL2) N K 109 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33242 P58012 (FOXL2) A G 179 rs7432551 Benign
33243 P58012 (FOXL2) G D 187 rs121908359 Disease: Premature ovarian failure 3 (POF3) [MIM:608996]
33244 P58012 (FOXL2) K R 193 rs1057516162 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33245 P58012 (FOXL2) Y C 215 rs1057516168 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33246 P58012 (FOXL2) S C 217 - Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33247 P58012 (FOXL2) S F 217 rs797044527 Disease: Blepharophim osis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
33248 P58012 (FOXL2) Y N 258 rs28937885 Disease: Premature ovarian failure 3 (POF3) [MIM:608996]
33249 P58012 (FOXL2) P S 285 - Benign
33250 P58012 (FOXL2) R G 349 rs201840174 Benign
33251 P58173 (OR2B6) V I 117 rs7767176 Benign
33252 P58173 (OR2B6) Q R 270 rs9380030 Benign
33253 P58180 (OR4D2) L I 29 rs60994383 Benign
33254 P58181 (OR10A3) F V 20 rs16934214 Benign
33255 P58182 (OR12D2) V F 47 rs9257834 Benign
33256 P58182 (OR12D2) L P 56 rs4987411 Benign
33257 P58182 (OR12D2) S F 104 rs3128853 Benign
33258 P58182 (OR12D2) F L 113 rs2073154 Benign
33259 P58182 (OR12D2) L R 120 rs2073153 Benign
33260 P58182 (OR12D2) S C 121 rs2073152 Benign
33261 P58182 (OR12D2) V G 132 rs11752608 Benign
33262 P58182 (OR12D2) V I 159 rs2073151 Benign
33263 P58215 (LOXL3) I F 615 rs17010021 Benign
33264 P58294 (PROK1) V I 67 rs7514102 Benign
33265 P58304 (VSX2) P Q 100 rs35214083 Benign
33266 P58304 (VSX2) R P 200 rs121912543 Disease: Microphthalm ia with cataracts and iris abnormalitie s (MCOPCTI) [MIM:610092]
33267 P58304 (VSX2) R Q 200 rs121912543 Disease: Microphthalm ia with cataracts and iris abnormalitie s (MCOPCTI) [MIM:610092]
33268 P58304 (VSX2) G A 223 - Disease: Microphthalm ia, isolated, 2 (MCOP2) [MIM:610093]
33269 P58304 (VSX2) G R 223 rs755799430 Disease: Microphthalm ia, isolated, with coloboma, 3 (MCOPCB3) [MIM:610092]
33270 P58304 (VSX2) R W 227 rs121912545 Disease: Microphthalm ia, isolated, 2 (MCOP2) [MIM:610093]
33271 P58335 (ANTXR2) L P 45 rs886041401 Disease: Hyaline fibromatosis syndrome (HFS) [MIM:228600]
33272 P58335 (ANTXR2) G D 105 rs137852902 Disease: Hyaline fibromatosis syndrome (HFS) [MIM:228600]
33273 P58335 (ANTXR2) I T 189 rs137852905 Disease: Hyaline fibromatosis syndrome (HFS) [MIM:228600]
33274 P58335 (ANTXR2) C R 218 rs781637328 Disease: Hyaline fibromatosis syndrome (HFS) [MIM:228600]
33275 P58335 (ANTXR2) L R 329 rs137852903 Disease: Hyaline fibromatosis syndrome (HFS) [MIM:228600]
33276 P58335 (ANTXR2) A P 357 rs12647691 Benign
33277 P58335 (ANTXR2) Y C 381 rs137852901 Disease: Hyaline fibromatosis syndrome (HFS) [MIM:228600]
33278 P58340 (MLF1) P T 226 rs15967 Benign
33279 P58397 (ADAMTS12) Q E 110 rs16891862 Benign
33280 P58397 (ADAMTS12) R Q 1000 rs13362345 Benign
33281 P58397 (ADAMTS12) W R 1177 rs3813474 Benign
33282 P58397 (ADAMTS12) T I 1495 rs25754 Benign
33283 P58397 (ADAMTS12) S P 1591 rs16891281 Benign
33284 P58418 (CLRN1) K I 7 rs3796241 Benign
33285 P58418 (CLRN1) P L 31 rs374390376 Disease: Retinitis pigmentosa 61 (RP61) [MIM:614180]
33286 P58418 (CLRN1) C G 40 rs121908143 Disease: Usher syndrome 3A (USH3A) [MIM:276902]
33287 P58418 (CLRN1) N K 48 rs111033258 Disease: Usher syndrome 3A (USH3A) [MIM:276902]
33288 P58418 (CLRN1) S P 105 - Disease: Usher syndrome 3A (USH3A) [MIM:276902]
33289 P58418 (CLRN1) M K 120 rs121908141 Disease: Usher syndrome 3A (USH3A) [MIM:276902]
33290 P58418 (CLRN1) L P 150 rs121908142 Disease: Usher syndrome 3A (USH3A) [MIM:276902]
33291 P58418 (CLRN1) L W 154 rs775098953 Disease: Retinitis pigmentosa 61 (RP61) [MIM:614180]
33292 P58418 (CLRN1) I N 168 - Disease: Usher syndrome 3A (USH3A) [MIM:276902]
33293 P58499 (FAM3B) V M 14 rs2838012 Benign
33294 P58511 (SMIM11A) K R 51 rs34016792 Benign
33295 P58753 (TIRAP) A P 9 rs8177369 Benign
33296 P58753 (TIRAP) R W 13 rs8177399 Benign
33297 P58753 (TIRAP) S N 55 rs3802813 Benign
33298 P58753 (TIRAP) D N 96 rs8177400 Benign
33299 P58753 (TIRAP) S L 180 rs8177374 Benign
33300 P58753 (TIRAP) V I 197 rs7932976 Benign
33301 P58872 (RHBDL3) V M 255 rs4795690 Benign
33302 P59020 (DSCR9) G V 23 rs1888464 Benign
33303 P59020 (DSCR9) R L 76 rs13864 Benign
33304 P59025 (RTP1) A G 212 rs35053281 Benign
33305 P59025 (RTP1) Q E 229 rs6764714 Benign
33306 P59044 (NLRP6) M L 163 rs6421985 Benign
33307 P59044 (NLRP6) Y F 361 rs7482965 Benign
33308 P59044 (NLRP6) A V 713 rs966612159 Benign
33309 P59045 (NLRP11) A S 188 rs299163 Benign
33310 P59045 (NLRP11) N D 233 rs59244027 Benign
33311 P59045 (NLRP11) P L 438 rs12461110 Benign
33312 P59046 (NLRP12) G V 39 rs34436714 Benign
33313 P59046 (NLRP12) F L 402 rs34971363 Benign
33314 P59047 (NLRP5) M I 459 rs471979 Benign
33315 P59047 (NLRP5) H P 584 rs34395092 Benign
33316 P59047 (NLRP5) R L 761 rs17713875 Benign
33317 P59047 (NLRP5) M T 912 rs16986899 Benign
33318 P59047 (NLRP5) A T 1097 rs3103057 Benign
33319 P59047 (NLRP5) S C 1108 rs12462795 Benign
33320 P59047 (NLRP5) V I 1181 rs10409555 Benign
33321 P59047 (NLRP5) R Q 1195 rs36118060 Benign
33322 P59095 (STARD6) E K 159 rs2917782 Benign
33323 P59103 (DAOA) R K 30 rs2391191 Benign
33324 P59103 (DAOA) K E 62 rs9558562 Benign
33325 P59282 (TPPP2) R L 133 rs9624 Benign
33326 P59510 (ADAMTS20) K M 876 rs7302446 Benign
33327 P59510 (ADAMTS20) R H 1000 rs7297737 Benign
33328 P59510 (ADAMTS20) S F 1273 rs7310011 Benign
33329 P59533 (TAS2R38) A P 49 rs713598 Benign
33330 P59533 (TAS2R38) A V 262 rs1726866 Benign
33331 P59533 (TAS2R38) I V 296 rs10246939 Benign
33332 P59534 (TAS2R39) S F 193 rs35474877 Benign
33333 P59534 (TAS2R39) K E 197 rs34169190 Benign
33334 P59535 (TAS2R40) V L 23 rs17164164 Benign
33335 P59535 (TAS2R40) S Y 187 rs10260248 Benign
33336 P59536 (TAS2R41) P L 127 rs10278721 Benign
33337 P59538 (TAS2R31) R W 35 rs10845295 Benign
33338 P59538 (TAS2R31) L M 162 rs10743938 Benign
33339 P59538 (TAS2R31) Q E 217 rs10845294 Benign
33340 P59538 (TAS2R31) A V 227 rs10845293 Benign
33341 P59538 (TAS2R31) V I 240 rs10772423 Benign
33342 P59538 (TAS2R31) P R 276 rs12318612 Benign
33343 P59540 (TAS2R46) L M 228 rs2708380 Benign
33344 P59541 (TAS2R30) F L 252 rs2599404 Benign
33345 P59542 (TAS2R19) K Q 126 rs12424373 Benign
33346 P59542 (TAS2R19) R C 299 rs10772420 Benign
33347 P59543 (TAS2R20) K E 79 rs7135018 Benign
33348 P59543 (TAS2R20) H Q 143 rs12226920 Benign
33349 P59543 (TAS2R20) H N 148 rs12226919 Benign
33350 P59543 (TAS2R20) I V 236 rs10845281 Benign
33351 P59543 (TAS2R20) F S 252 rs10845280 Benign
33352 P59543 (TAS2R20) R L 255 rs10845279 Benign
33353 P59544 (TAS2R50) C Y 203 rs1376251 Benign
33354 P59796 (GPX6) Q L 6 rs35510314 Benign
33355 P59796 (GPX6) F L 13 rs406113 Benign
33356 P59796 (GPX6) Y H 53 rs34825130 Benign
33357 P59796 (GPX6) Q H 58 rs6922986 Benign
33358 P59796 (GPX6) Y N 72 rs35062161 Benign
33359 P59796 (GPX6) E D 136 rs35394555 Benign
33360 P59796 (GPX6) V M 140 rs36055795 Benign
33361 P59796 (GPX6) P S 157 rs35658392 Benign
33362 P59796 (GPX6) D G 161 rs34955392 Benign
33363 P59796 (GPX6) V A 188 rs35701070 Benign
33364 P59797 (SELENOV) K R 284 rs56149652 Benign
33365 P59817 (ZNF280A) K N 71 rs361959 Benign
33366 P59817 (ZNF280A) N S 136 rs362011 Benign
33367 P59817 (ZNF280A) Y S 137 rs361580 Benign
33368 P59817 (ZNF280A) N S 246 rs362132 Benign
33369 P59817 (ZNF280A) G A 249 rs362124 Benign
33370 P59817 (ZNF280A) L F 276 rs16989015 Benign
33371 P59817 (ZNF280A) N D 278 rs362003 Benign
33372 P59817 (ZNF280A) F L 486 rs361762 Benign
33373 P59817 (ZNF280A) R S 488 rs361666 Benign
33374 P59826 (BPIFB3) V M 228 rs4911290 Benign
33375 P59826 (BPIFB3) T M 290 rs2093066 Benign
33376 P59826 (BPIFB3) H Q 334 rs6057717 Benign
33377 P59826 (BPIFB3) Y C 369 rs6059063 Benign
33378 P59826 (BPIFB3) P S 449 rs378098 Benign
33379 P59827 (BPIFB4) G W 167 rs2424943 Benign
33380 P59827 (BPIFB4) D G 199 rs4339026 Benign
33381 P59827 (BPIFB4) G W 206 rs2424943 Benign
33382 P59827 (BPIFB4) I V 229 rs2070325 Benign
33383 P59827 (BPIFB4) I V 268 rs2070325 Benign
33384 P59827 (BPIFB4) N T 320 rs2889732 Benign
33385 P59827 (BPIFB4) F L 527 rs11699009 Benign
33386 P59827 (BPIFB4) T I 533 rs11696307 Benign
33387 P59901 (LILRA4) P L 27 rs2241384 Benign
33388 P59901 (LILRA4) I V 155 rs10419832 Benign
33389 P59910 (DNAJB13) M R 278 rs754776389 Disease: Ciliary dyskinesia, primary, 34 (CILD34) [MIM:617091]
33390 P59923 (ZNF445) Y C 428 rs11710965 Benign
33391 P59942 (MCCD1) E K 42 rs2259435 Benign
33392 P59942 (MCCD1) S N 45 rs3093983 Benign
33393 P59942 (MCCD1) T M 53 rs78957773 Benign
33394 P59991 (KRTAP12-2) A T 16 rs13046903 Benign
33395 P59991 (KRTAP12-2) A V 16 rs7275298 Benign
33396 P59991 (KRTAP12-2) S C 29 rs7275281 Benign
33397 P59991 (KRTAP12-2) S P 29 rs7276859 Benign
33398 P59991 (KRTAP12-2) A V 116 rs12483730 Benign
33399 P59991 (KRTAP12-2) S P 143 rs2838622 Benign
33400 P60014 (KRTAP10-1) V D 20 rs2838602 Benign
33401 P60014 (KRTAP10-1) T P 72 rs4818947 Benign
33402 P60014 (KRTAP10-1) T S 86 rs9306109 Benign
33403 P60014 (KRTAP10-1) V M 116 rs60500206 Benign
33404 P60014 (KRTAP10-1) C S 126 rs4818948 Benign
33405 P60014 (KRTAP10-1) Q P 129 rs4818949 Benign
33406 P60014 (KRTAP10-1) V M 158 rs4818950 Benign
33407 P60022 (DEFB1) V I 38 rs2738047 Benign
33408 P60022 (DEFB1) A V 48 rs1800967 Benign
33409 P60022 (DEFB1) C S 67 rs1800968 Benign
33410 P60153 (RNASE9) F S 148 rs12590446 Benign
33411 P60153 (RNASE9) S P 204 rs1243647 Benign
33412 P60174 (TPI1) C Y 79 rs121964848 Disease: Triosephosph ate isomerase deficiency (TPID) [MIM:615512]
33413 P60174 (TPI1) G A 110 - Disease: Triosephosph ate isomerase deficiency (TPID) [MIM:615512]
33414 P60174 (TPI1) E D 142 rs121964845 Disease: Triosephosph ate isomerase deficiency (TPID) [MIM:615512]
33415 P60174 (TPI1) G R 160 rs121964846 Benign
33416 P60174 (TPI1) V M 192 rs188138723 Disease: Triosephosph ate isomerase deficiency (TPID) [MIM:615512]
33417 P60174 (TPI1) I V 208 rs121964849 Disease: Triosephosph ate isomerase deficiency (TPID) [MIM:615512]
33418 P60174 (TPI1) V M 269 - Disease: Triosephosph ate isomerase deficiency (TPID) [MIM:615512]
33419 P60174 (TPI1) F L 278 rs121964847 Disease: Triosephosph ate isomerase deficiency (TPID) [MIM:615512]
33420 P60201 (PLP1) P L 15 rs11543022 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33421 P60201 (PLP1) A P 30 - Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33422 P60201 (PLP1) L P 31 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33423 P60201 (PLP1) F L 32 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33424 P60201 (PLP1) F V 32 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33425 P60201 (PLP1) C Y 33 rs1064794255 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33426 P60201 (PLP1) C R 35 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33427 P60201 (PLP1) C Y 35 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33428 P60201 (PLP1) A T 39 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33429 P60201 (PLP1) T I 43 rs132630289 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33430 P60201 (PLP1) L P 46 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33431 P60201 (PLP1) L R 46 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33432 P60201 (PLP1) Y C 50 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33433 P60201 (PLP1) F S 51 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33434 P60201 (PLP1) Y C 60 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33435 P60201 (PLP1) G R 74 rs132630285 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33436 P60201 (PLP1) A P 76 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33437 P60201 (PLP1) T K 116 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33438 P60201 (PLP1) H Y 130 rs878853076 Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33439 P60201 (PLP1) R W 137 rs132630295 Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33440 P60201 (PLP1) H Y 140 rs132630287 Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33441 P60201 (PLP1) H Y 148 - Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33442 P60201 (PLP1) K N 151 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33443 P60201 (PLP1) T I 156 rs132630280 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33444 P60201 (PLP1) V E 162 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33445 P60201 (PLP1) W R 163 rs132630279 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33446 P60201 (PLP1) V E 166 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33447 P60201 (PLP1) V G 166 - Disease: -
33448 P60201 (PLP1) C R 169 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33449 P60201 (PLP1) S F 170 rs132630294 Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33450 P60201 (PLP1) S P 170 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33451 P60201 (PLP1) V A 172 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33452 P60201 (PLP1) P S 173 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33453 P60201 (PLP1) Y C 175 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33454 P60201 (PLP1) W C 181 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33455 P60201 (PLP1) T P 182 rs132630282 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33456 P60201 (PLP1) T N 183 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33457 P60201 (PLP1) I T 187 rs132630288 Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33458 P60201 (PLP1) D E 203 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33459 P60201 (PLP1) D G 203 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33460 P60201 (PLP1) D H 203 rs132630284 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33461 P60201 (PLP1) D N 203 rs132630284 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33462 P60201 (PLP1) D V 203 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33463 P60201 (PLP1) R G 205 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33464 P60201 (PLP1) Y C 207 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33465 P60201 (PLP1) V D 209 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33466 P60201 (PLP1) L H 210 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33467 P60201 (PLP1) P L 211 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33468 P60201 (PLP1) W R 212 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33469 P60201 (PLP1) P A 216 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33470 P60201 (PLP1) P L 216 - Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33471 P60201 (PLP1) P S 216 rs132630278 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33472 P60201 (PLP1) G S 217 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33473 P60201 (PLP1) V F 219 rs132630281 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33474 P60201 (PLP1) C Y 220 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33475 P60201 (PLP1) G C 221 rs132630286 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33476 P60201 (PLP1) L I 224 - Disease: -
33477 P60201 (PLP1) L P 224 rs132630283 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33478 P60201 (PLP1) L P 225 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33479 P60201 (PLP1) S P 226 - Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33480 P60201 (PLP1) C Y 228 rs398123466 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33481 P60201 (PLP1) Q P 234 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33482 P60201 (PLP1) F S 237 rs132630291 Disease: Spastic paraplegia 2, X-linked (SPG2) [MIM:312920]
33483 P60201 (PLP1) L P 239 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33484 P60201 (PLP1) A P 242 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33485 P60201 (PLP1) A E 243 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33486 P60201 (PLP1) A V 243 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33487 P60201 (PLP1) G A 246 rs398123467 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33488 P60201 (PLP1) G E 246 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33489 P60201 (PLP1) A T 247 rs886043504 Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33490 P60201 (PLP1) A E 248 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33491 P60201 (PLP1) A P 249 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33492 P60201 (PLP1) S F 253 - Disease: Leukodystrop hy, hypomyelinat ing, 1 (HLD1) [MIM:312080]
33493 P60228 (EIF3E) A V 185 rs17856554 Benign
33494 P60321 (NANOS2) H Q 68 rs148451980 Benign
33495 P60328 (KRTAP12-3) H R 17 rs9306111 Benign
33496 P60331 (KRTAP10-1) P L 39 rs233320 Benign
33497 P60331 (KRTAP10-1) V M 101 rs233319 Benign
33498 P60331 (KRTAP10-1) R Q 241 rs233317 Benign
33499 P60331 (KRTAP10-1) P L 280 rs233316 Benign
33500 P60368 (KRTAP10-2) N D 15 rs233240 Benign
33501 P60368 (KRTAP10-2) P T 107 rs478967 Benign
33502 P60368 (KRTAP10-2) A P 117 rs233239 Benign
33503 P60368 (KRTAP10-2) P L 177 rs2329834 Benign
33504 P60368 (KRTAP10-2) R G 241 rs146792277 Benign
33505 P60369 (KRTAP10-3) T A 3 rs452472 Benign
33506 P60369 (KRTAP10-3) C Y 170 rs233252 Benign
33507 P60370 (KRTAP10-5) C S 4 rs5017208 Benign
33508 P60370 (KRTAP10-5) D N 20 rs2020221 Benign
33509 P60370 (KRTAP10-5) F C 183 rs380585 Benign
33510 P60370 (KRTAP10-5) V L 235 rs464424 Benign
33511 P60370 (KRTAP10-5) Y C 247 rs7509970 Benign
33512 P60370 (KRTAP10-5) R P 268 rs464391 Benign
33513 P60371 (KRTAP10-6) C S 68 rs13051409 Benign
33514 P60371 (KRTAP10-6) P S 74 rs13050443 Benign
33515 P60371 (KRTAP10-6) V I 159 rs233306 Benign
33516 P60371 (KRTAP10-6) P S 300 rs465279 Benign
33517 P60372 (KRTAP10-4) R C 62 rs233285 Benign
33518 P60372 (KRTAP10-4) I V 159 rs79048509 Benign
33519 P60372 (KRTAP10-4) G C 285 rs396912 Benign
33520 P60409 (KRTAP10-7) V M 111 rs944419 Benign
33521 P60409 (KRTAP10-7) Y C 124 rs233308 Benign
33522 P60409 (KRTAP10-7) K Q 215 rs363877 Benign
33523 P60409 (KRTAP10-7) T S 285 rs446817 Benign
33524 P60409 (KRTAP10-7) A T 320 rs369720 Benign
33525 P60410 (KRTAP10-8) H R 26 rs411254 Benign
33526 P60411 (KRTAP10-9) Y C 182 rs8127342 Benign
33527 P60411 (KRTAP10-9) R C 257 rs9980129 Benign
33528 P60412 (KRTAP10-1) S F 130 rs4818952 Benign
33529 P60413 (KRTAP10-1) P Q 146 rs35076450 Benign
33530 P60413 (KRTAP10-1) G S 226 rs34302939 Benign
33531 P60484 (PTEN) G E 20 rs1064795967 Benign
33532 P60484 (PTEN) Y S 27 rs886041877 Benign
33533 P60484 (PTEN) A D 34 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33534 P60484 (PTEN) M R 35 rs121909225 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33535 P60484 (PTEN) G R 36 rs786204854 Benign
33536 P60484 (PTEN) R G 47 rs786204855 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33537 P60484 (PTEN) H R 61 rs398123316 Benign
33538 P60484 (PTEN) I R 67 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33539 P60484 (PTEN) Y H 68 rs398123317 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33540 P60484 (PTEN) L P 70 rs121909226 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33541 P60484 (PTEN) C Y 71 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33542 P60484 (PTEN) H R 93 rs121909238 Disease: Macrocephaly /autism syndrome (MCEPHAS) [MIM:605309]
33543 P60484 (PTEN) H Y 93 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33544 P60484 (PTEN) C F 105 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33545 P60484 (PTEN) C Y 105 rs587782343 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33546 P60484 (PTEN) D Y 107 - Disease: Glioblastoma
33547 P60484 (PTEN) L P 112 rs121909230 Disease: Lhermitte- Duclos disease (LDD) [MIM:158350]
33548 P60484 (PTEN) A G 121 rs121909237 Disease: Squamous cell carcinoma of the head and neck (HNSCC) [MIM:275355]
33549 P60484 (PTEN) H R 123 rs121909222 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33550 P60484 (PTEN) H Y 123 rs786204931 Disease: Endometrial cancer (ENDMC) [MIM:608089]
33551 P60484 (PTEN) C R 124 rs121909223 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33552 P60484 (PTEN) C S 124 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33553 P60484 (PTEN) G E 129 rs121909218 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33554 P60484 (PTEN) R G 130 rs121909224 Benign
33555 P60484 (PTEN) R L 130 rs121909229 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33556 P60484 (PTEN) R Q 130 rs121909229 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33557 P60484 (PTEN) T I 131 rs397514560 Disease: Macrocephaly /autism syndrome (MCEPHAS) [MIM:605309]
33558 P60484 (PTEN) M L 134 - Disease: Prostate cancer (PC) [MIM:176807]
33559 P60484 (PTEN) I V 135 rs587782360 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33560 P60484 (PTEN) C Y 136 rs786204859 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33561 P60484 (PTEN) Y C 155 rs1060500126 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33562 P60484 (PTEN) G E 165 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33563 P60484 (PTEN) G V 165 rs786204863 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33564 P60484 (PTEN) T N 167 rs397514559 Disease: Macrocephaly /autism syndrome (MCEPHAS) [MIM:605309]
33565 P60484 (PTEN) S R 170 rs121909221 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33566 P60484 (PTEN) R C 173 rs121913293 Benign
33567 P60484 (PTEN) R H 173 rs121913294 Benign
33568 P60484 (PTEN) R P 173 rs121913294 Benign
33569 P60484 (PTEN) Y N 174 rs587782316 Benign
33570 P60484 (PTEN) S F 227 rs905615413 Benign
33571 P60484 (PTEN) R Q 234 rs121909235 Disease: Glioma 2 (GLM2) [MIM:613028]
33572 P60484 (PTEN) F S 241 rs121909240 Disease: Macrocephaly /autism syndrome (MCEPHAS) [MIM:605309]
33573 P60484 (PTEN) P L 246 rs587782350 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33574 P60484 (PTEN) D G 252 rs121909239 Disease: Macrocephaly /autism syndrome (MCEPHAS) [MIM:605309]
33575 P60484 (PTEN) K E 289 rs562015640 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33576 P60484 (PTEN) V L 290 rs35600253 Benign
33577 P60484 (PTEN) D G 331 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33578 P60484 (PTEN) F V 341 rs1554825652 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33579 P60484 (PTEN) K N 342 rs398123314 Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33580 P60484 (PTEN) V E 343 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33581 P60484 (PTEN) F L 347 - Disease: Cowden syndrome 1 (CWS1) [MIM:158350]
33582 P60520 (GABARAPL2) V A 51 rs11556291 Benign
33583 P60602 (ROMO1) A P 28 rs1044521 Benign
33584 P60660 (MYL6) T I 85 rs11553509 Benign
33585 P60660 (MYL6) T P 103 rs1050470 Benign
33586 P60709 (ACTB) N D 12 rs281875331 Disease: Baraitser- Winter syndrome 1 (BRWS1) [MIM:243310]
33587 P60709 (ACTB) L V 65 rs281875332 Disease: Baraitser- Winter syndrome 1 (BRWS1) [MIM:243310]
33588 P60709 (ACTB) R W 183 rs104894003 Disease: Dystonia, juvenile- onset (DJO) [MIM:607371]
33589 P60709 (ACTB) R C 196 rs281875333 Disease: Baraitser- Winter syndrome 1 (BRWS1) [MIM:243310]
33590 P60709 (ACTB) R H 196 rs281875334 Disease: Baraitser- Winter syndrome 1 (BRWS1) [MIM:243310]
33591 P60709 (ACTB) P L 243 rs11546899 Benign
33592 P60763 (RAC3) P L 29 - Disease: Neurodevelop mental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577]
33593 P60763 (RAC3) A G 59 - Disease: Neurodevelop mental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577]
33594 P60763 (RAC3) Q L 61 - Disease: Neurodevelop mental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577]
33595 P60763 (RAC3) E K 62 - Disease: Neurodevelop mental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577]
33596 P60852 (ZP1) T I 158 rs489172 Benign
33597 P60880 (SNAP25) I N 67 rs1555794286 Disease: Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330]
33598 P60891 (PRPS1) S P 16 rs869025594 Disease: -
33599 P60891 (PRPS1) E D 43 rs80338731 Disease: Charcot- Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]
33600 P60891 (PRPS1) D H 52 rs137852542 Disease: Phosphoribos ylpyrophosph ate synthetase superactivit y (PRPS1 superactivit y) [MIM:300661]
33601 P60891 (PRPS1) D N 65 rs180177151 Disease: Deafness, X-linked, 1 (DFNX1) [MIM:304500]
33602 P60891 (PRPS1) A T 87 rs180177152 Disease: Deafness, X-linked, 1 (DFNX1) [MIM:304500]
33603 P60891 (PRPS1) N S 114 rs137852540 Disease: Phosphoribos ylpyrophosph ate synthetase superactivit y (PRPS1 superactivit y) [MIM:300661]
33604 P60891 (PRPS1) M T 115 rs80338732 Disease: Charcot- Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070]
33605 P60891 (PRPS1) L I 129 rs137852543 Disease: Phosphoribos ylpyrophosph ate synthetase superactivit y (PRPS1 superactivit y) [MIM:300661]
33606 P60891 (PRPS1) Q P 133 rs80338675 Disease: ARTS syndrome (ARTS) [MIM:301835]
33607 P60891 (PRPS1) V L 142 rs398122855 Disease: -
33608 P60891 (PRPS1) L P 152 rs80338676 Disease: ARTS syndrome (ARTS) [MIM:301835]
33609 P60891 (PRPS1) D H 183 rs137852541 Disease: Phosphoribos ylpyrophosph ate synthetase superactivit y (PRPS1 superactivit y) [MIM:300661]
33610 P60891 (PRPS1) A V 190 rs137852544 Disease: Phosphoribos ylpyrophosph ate synthetase superactivit y (PRPS1 superactivit y) [MIM:300661]
33611 P60891 (PRPS1) H Q 193 rs137852545 Disease: Phosphoribos ylpyrophosph ate synthetase superactivit y (PRPS1 superactivit y) [MIM:300661]
33612 P60891 (PRPS1) I T 290 rs180177153 Disease: Deafness, X-linked, 1 (DFNX1) [MIM:304500]
33613 P60891 (PRPS1) G R 306 rs180177154 Disease: Deafness, X-linked, 1 (DFNX1) [MIM:304500]
33614 P60896 (SEM1) D G 17 rs1802882 Benign
33615 P60953 (CDC42) Y C 64 rs864309721 Disease: Takenouchi- Kosaki syndrome (TKS) [MIM:616737]
33616 P61011 (SRP54) G R 113 - Disease: Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752]
33617 P61011 (SRP54) T A 115 - Disease: Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752]
33618 P61011 (SRP54) C Y 118 - Disease: Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752]
33619 P61011 (SRP54) C Y 136 - Disease: Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752]
33620 P61011 (SRP54) A D 223 - Disease: Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752]
33621 P61011 (SRP54) G E 226 - Disease: Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752]
33622 P61011 (SRP54) G D 274 - Disease: Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752]
33623 P61106 (RAB14) A T 4 - Benign
33624 P61221 (ABCE1) S C 489 rs3816497 Benign
33625 P61244 (MAX) V L 9 rs201743423 Disease: Pheochromocy toma (PCC) [MIM:171300]
33626 P61244 (MAX) R W 25 - Disease: Pheochromocy toma (PCC) [MIM:171300]
33627 P61244 (MAX) R C 35 - Disease: Pheochromocy toma (PCC) [MIM:171300]
33628 P61244 (MAX) R W 60 - Disease: Pheochromocy toma (PCC) [MIM:171300]
33629 P61244 (MAX) I S 71 - Disease: Pheochromocy toma (PCC) [MIM:171300]
33630 P61244 (MAX) M V 74 - Disease: Pheochromocy toma (PCC) [MIM:171300]
33631 P61244 (MAX) R P 90 - Disease: Pheochromocy toma (PCC) [MIM:171300]
33632 P61244 (MAX) L P 94 - Disease: Pheochromocy toma (PCC) [MIM:171300]
33633 P61244 (MAX) L P 102 - Disease: Pheochromocy toma (PCC) [MIM:171300]
33634 P61244 (MAX) N T 114 rs772912674 Benign
33635 P61244 (MAX) S L 142 rs760147253 Benign
33636 P61266 (STX1B) V E 216 rs724159974 Disease: Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172]
33637 P61266 (STX1B) G R 226 rs727502806 Disease: Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172]
33638 P61278 (SST) A V 11 rs35603672 Benign
33639 P61278 (SST) N T 61 rs33934967 Benign
33640 P61328 (FGF12) R H 114 rs886039903 Disease: Epileptic encephalopat hy, early infantile, 47 (EIEE47) [MIM:617166]
33641 P61457 (PCBD1) T I 79 rs121913014 Benign
33642 P61457 (PCBD1) C R 82 rs104894177 Disease: Hyperphenyla laninemia, BH4-deficien t, D (HPABH4D) [MIM:264070]
33643 P61457 (PCBD1) R Q 88 rs115117837 Disease: Hyperphenyla laninemia, BH4-deficien t, D (HPABH4D) [MIM:264070]
33644 P61457 (PCBD1) E K 97 rs397518416 Disease: Hyperphenyla laninemia, BH4-deficien t, D (HPABH4D) [MIM:264070]
33645 P61586 (RHOA) E K 47 - Disease: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) [MIM:618727]
33646 P61586 (RHOA) P S 71 - Disease: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) [MIM:618727]
33647 P61619 (SEC61A1) V G 67 rs752745051 Disease: Familial juvenile hyperuricemi c nephropathy 4 (HNFJ4) [MIM:617056]
33648 P61619 (SEC61A1) V D 85 rs1553721236 Disease: -
33649 P61619 (SEC61A1) T A 185 rs879255648 Disease: Familial juvenile hyperuricemi c nephropathy 4 (HNFJ4) [MIM:617056]
33650 P61626 (LYZ) I T 74 rs121913547 Disease: Amyloidosis 8 (AMYL8) [MIM:105200]
33651 P61626 (LYZ) D H 85 rs121913548 Disease: Amyloidosis 8 (AMYL8) [MIM:105200]
33652 P61626 (LYZ) T N 88 rs1800973 Benign
33653 P61758 (VBP1) V M 123 rs572013 Benign
33654 P61764 (STXBP1) S F 42 - Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33655 P61764 (STXBP1) S P 80 - Disease: -
33656 P61764 (STXBP1) V I 84 rs34830702 Benign
33657 P61764 (STXBP1) V D 84 rs121918320 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33658 P61764 (STXBP1) C Y 180 rs121918318 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33659 P61764 (STXBP1) L R 183 - Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33660 P61764 (STXBP1) R W 190 rs796053355 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33661 P61764 (STXBP1) A T 251 - Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33662 P61764 (STXBP1) L P 281 - Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33663 P61764 (STXBP1) E K 283 rs587777310 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33664 P61764 (STXBP1) D Y 285 - Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33665 P61764 (STXBP1) R H 292 rs796053361 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33666 P61764 (STXBP1) C R 354 rs886041337 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33667 P61764 (STXBP1) R C 406 rs796053367 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33668 P61764 (STXBP1) R H 406 rs886041246 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33669 P61764 (STXBP1) Q L 431 - Benign
33670 P61764 (STXBP1) M R 443 rs121918319 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33671 P61764 (STXBP1) H P 445 - Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33672 P61764 (STXBP1) P L 480 rs796053368 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33673 P61764 (STXBP1) G D 544 rs121918317 Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33674 P61764 (STXBP1) T A 570 - Disease: -
33675 P61764 (STXBP1) T P 574 - Disease: Epileptic encephalopat hy, early infantile, 4 (EIEE4) [MIM:612164]
33676 P61769 (B2M) A P 11 rs104894481 Disease: Immunodefici ency 43 (IMD43) [MIM:241600]
33677 P61769 (B2M) D N 96 rs398122820 Disease: Amyloidosis 8 (AMYL8) [MIM:105200]
33678 P61803 (DAD1) A T 83 rs5742796 Benign
33679 P61812 (TGFB2) R H 91 rs10482721 Benign
33680 P61812 (TGFB2) V L 207 rs10482810 Benign
33681 P61812 (TGFB2) R W 299 rs863223792 Disease: Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]
33682 P61812 (TGFB2) R C 302 rs869312903 Disease: Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]
33683 P61812 (TGFB2) R C 320 rs1553303352 Disease: -
33684 P61812 (TGFB2) P H 338 rs387907278 Disease: Loeys-Dietz syndrome 4 (LDS4) [MIM:614816]
33685 P61916 (NPC2) V M 30 rs151220873 Disease: Niemann-Pick disease C2 (NPC2) [MIM:607625]
33686 P61916 (NPC2) V M 39 rs80358261 Disease: Niemann-Pick disease C2 (NPC2) [MIM:607625]
33687 P61916 (NPC2) C F 47 rs1555345993 Disease: Niemann-Pick disease C2 (NPC2) [MIM:607625]
33688 P61916 (NPC2) S P 67 rs11694 Disease: Niemann-Pick disease C2 (NPC2) [MIM:607625]
33689 P61916 (NPC2) P L 86 rs4688 Benign
33690 P61916 (NPC2) C F 93 rs143960270 Disease: Niemann-Pick disease C2 (NPC2) [MIM:607625]
33691 P61916 (NPC2) C R 99 rs80358264 Disease: Niemann-Pick disease C2 (NPC2) [MIM:607625]
33692 P61916 (NPC2) P S 120 rs104894458 Disease: Niemann-Pick disease C2 (NPC2) [MIM:607625]
33693 P61956 (SUMO2) D N 16 rs17850328 Benign
33694 P61960 (UFM1) R C 81 rs1033946108 Disease: Leukodystrop hy, hypomyelinat ing, 14 (HLD14) [MIM:617899]
33695 P61981 (YWHAG) D E 129 rs1554616630 Disease: Epileptic encephalopat hy, early infantile, 56 (EIEE56) [MIM:617665]
33696 P61981 (YWHAG) R C 132 rs1554616628 Disease: Epileptic encephalopat hy, early infantile, 56 (EIEE56) [MIM:617665]
33697 P61981 (YWHAG) Y S 133 rs1554616627 Disease: -
33698 P62068 (USP46) A V 81 rs17475800 Benign
33699 P62070 (RRAS2) G V 23 - Disease: Noonan syndrome 12 (NS12) [MIM:618624]
33700 P62070 (RRAS2) A T 70 - Disease: Noonan syndrome 12 (NS12) [MIM:618624]
33701 P62070 (RRAS2) Q H 72 - Disease: Noonan syndrome 12 (NS12) [MIM:618624]
33702 P62070 (RRAS2) Q L 72 rs113954997 Disease: Noonan syndrome 12 (NS12) [MIM:618624]
33703 P62070 (RRAS2) F C 75 - Benign
33704 P62140 (PPP1CB) P R 49 rs886037952 Disease: Noonan syndrome- like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
33705 P62140 (PPP1CB) A P 56 rs1114167429 Disease: Noonan syndrome- like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
33706 P62140 (PPP1CB) E A 183 rs886037954 Disease: Noonan syndrome- like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
33707 P62140 (PPP1CB) E V 183 rs886037954 Disease: Noonan syndrome- like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
33708 P62140 (PPP1CB) D Y 252 rs886037953 Disease: Noonan syndrome- like disorder with loose anagen hair 2 (NSLH2) [MIM:617506]
33709 P62195 (PSMC5) R W 258 rs11543211 Benign
33710 P62241 (RPS8) R G 110 rs11537870 Benign
33711 P62266 (RPS23) R K 67 rs1060505034 Disease: Brachycephal y, trichomegaly , and developmenta l delay (BTDD) [MIM:617412]
33712 P62266 (RPS23) F I 120 rs1060505035 Disease: Brachycephal y, trichomegaly , and developmenta l delay (BTDD) [MIM:617412]
33713 P62273 (RPS29) I F 31 rs587777568 Disease: Diamond- Blackfan anemia 13 (DBA13) [MIM:615909]
33714 P62273 (RPS29) I T 50 rs587777569 Disease: Diamond- Blackfan anemia 13 (DBA13) [MIM:615909]
33715 P62304 (SNRPE) G S 45 rs587776925 Disease: Hypotrichosi s 11 (HYPT11) [MIM:615059]
33716 P62324 (BTG1) N S 139 rs28399541 Benign
33717 P62324 (BTG1) Q E 141 rs28399542 Benign
33718 P62508 (ESRRG) T M 50 rs11572693 Benign
33719 P62736 (ACTA2) R H 39 rs794728021 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33720 P62736 (ACTA2) N T 117 - Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33721 P62736 (ACTA2) R Q 118 rs112602953 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33722 P62736 (ACTA2) Y H 135 rs751300489 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33723 P62736 (ACTA2) Y C 145 - Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33724 P62736 (ACTA2) R C 149 rs121434526 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33725 P62736 (ACTA2) V A 154 rs1554841298 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33726 P62736 (ACTA2) R H 179 rs387906592 Disease: Multisystemi c smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]
33727 P62736 (ACTA2) R Q 185 rs1057521105 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33728 P62736 (ACTA2) T S 196 rs1803028 Benign
33729 P62736 (ACTA2) R Q 212 rs397516685 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33730 P62736 (ACTA2) R C 258 rs121434528 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33731 P62736 (ACTA2) R H 258 rs121434527 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33732 P62736 (ACTA2) R G 292 - Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33733 P62736 (ACTA2) T A 320 rs1803027 Benign
33734 P62736 (ACTA2) T N 326 rs777832794 Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33735 P62736 (ACTA2) T N 353 - Disease: Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
33736 P62736 (ACTA2) H P 373 rs1062398 Benign
33737 P62753 (RPS6) K R 221 rs17852447 Benign
33738 P62760 (VSNL1) A G 65 rs1042674 Benign
33739 P62760 (VSNL1) K R 172 rs1042685 Benign
33740 P62807 (H2BC4) G S 27 rs7766641 Benign
33741 P62854 (RPS26) D N 33 rs267607023 Disease: Diamond- Blackfan anemia 10 (DBA10) [MIM:613309]
33742 P62854 (RPS26) M T 115 - Disease: Diamond- Blackfan anemia 10 (DBA10) [MIM:613309]
33743 P62861 (FAU) V M 19 - Benign
33744 P62873 (GNB1) R G 52 - Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33745 P62873 (GNB1) G V 64 - Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33746 P62873 (GNB1) D E 76 rs869312822 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33747 P62873 (GNB1) D G 76 rs869312821 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33748 P62873 (GNB1) G S 77 rs758432471 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33749 P62873 (GNB1) K R 78 rs869312823 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33750 P62873 (GNB1) I N 80 rs752746786 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33751 P62873 (GNB1) I T 80 rs752746786 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33752 P62873 (GNB1) A T 92 - Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33753 P62873 (GNB1) P S 94 - Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33754 P62873 (GNB1) L P 95 rs869312824 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33755 P62873 (GNB1) R L 96 - Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33756 P62873 (GNB1) M V 101 rs869312825 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33757 P62873 (GNB1) A T 106 - Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33758 P62873 (GNB1) D G 118 rs1553194162 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33759 P62873 (GNB1) A T 326 rs869312826 Disease: Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973]
33760 P62906 (RPL10A) T P 154 rs17838763 Benign
33761 P62913 (RPL11) L H 20 - Disease: Diamond- Blackfan anemia 7 (DBA7) [MIM:612562]
33762 P62917 (RPL8) I V 98 rs11539893 Benign
33763 P62952 (BLCAP) Y C 2 rs11557677 Benign
33764 P62952 (BLCAP) K R 15 rs11557676 Benign
33765 P63000 (RAC1) C Y 18 rs1554263326 Disease: Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
33766 P63000 (RAC1) N D 26 rs5830 Benign
33767 P63000 (RAC1) F L 28 rs5832 Benign
33768 P63000 (RAC1) N S 39 rs1554263624 Disease: Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
33769 P63000 (RAC1) V M 51 rs1554263625 Disease: Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
33770 P63000 (RAC1) A T 59 rs5837 Benign
33771 P63000 (RAC1) D G 63 rs5831 Benign
33772 P63000 (RAC1) Y D 64 rs1554263626 Disease: Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
33773 P63000 (RAC1) P L 73 - Disease: Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
33774 P63000 (RAC1) V G 93 rs5826 Benign
33775 P63000 (RAC1) V I 93 rs5825 Benign
33776 P63000 (RAC1) T I 108 rs5838 Benign
33777 P63000 (RAC1) K R 130 rs5828 Benign
33778 P63000 (RAC1) K E 133 rs5835 Benign
33779 P63000 (RAC1) T I 135 rs11540455 Benign
33780 P63000 (RAC1) C Y 157 rs1554264268 Disease: Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751]
33781 P63000 (RAC1) P S 180 rs16063 Benign
33782 P63000 (RAC1) V E 182 rs5836 Benign
33783 P63027 (VAMP2) S P 75 - Disease: Neurodevelop mental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760]
33784 P63027 (VAMP2) F S 77 - Disease: Neurodevelop mental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760]
33785 P63027 (VAMP2) E A 78 - Disease: Neurodevelop mental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760]
33786 P63092 (GNAS) L P 99 rs137854531 Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33787 P63092 (GNAS) P L 115 rs137854539 Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33788 P63092 (GNAS) D N 156 - Disease: Pseudohypopa rathyroidism 1A (PHP1A) [MIM:103580]
33789 P63092 (GNAS) V M 159 - Disease: Pseudohypopa rathyroidism 1A (PHP1A) [MIM:103580]
33790 P63092 (GNAS) R C 165 rs137854532 Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33791 P63092 (GNAS) R C 201 rs11554273 Disease: McCune- Albright syndrome (MAS) [MIM:174800]
33792 P63092 (GNAS) R G 201 rs11554273 Disease: McCune- Albright syndrome (MAS) [MIM:174800]
33793 P63092 (GNAS) R H 201 rs121913495 Disease: McCune- Albright syndrome (MAS) [MIM:174800]
33794 P63092 (GNAS) R S 201 rs11554273 Disease: ACTH- independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080]
33795 P63092 (GNAS) Q H 227 rs137854533 Benign
33796 P63092 (GNAS) Q R 227 rs121913494 Benign
33797 P63092 (GNAS) R H 231 rs137854538 Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33798 P63092 (GNAS) T I 242 - Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33799 P63092 (GNAS) F S 246 - Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33800 P63092 (GNAS) S R 250 rs137854534 Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33801 P63092 (GNAS) R W 258 rs137854535 Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33802 P63092 (GNAS) E V 259 - Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33803 P63092 (GNAS) R G 280 - Disease: Pseudohypopa rathyroidism 1A (PHP1A) [MIM:103580]
33804 P63092 (GNAS) R K 280 - Disease: Pseudohypopa rathyroidism 1A (PHP1A) [MIM:103580]
33805 P63092 (GNAS) W R 281 - Disease: Progressive osseous heteroplasia (POH) [MIM:166350]
33806 P63092 (GNAS) K N 338 - Disease: Pseudohypopa rathyroidism 1A (PHP1A) [MIM:103580]
33807 P63092 (GNAS) A S 366 rs137854537 Disease: Pseudohypopa rathyroidism 1A (PHP1A) [MIM:103580]
33808 P63092 (GNAS) R L 380 rs8986 Benign
33809 P63092 (GNAS) R H 385 - Disease: Albright hereditary osteodystrop hy (AHO) [MIM:103580]
33810 P63092 (GNAS) L R 388 rs397514457 Disease: Pseudohypopa rathyroidism 1C (PHP1C) [MIM:612462]
33811 P63092 (GNAS) E K 392 rs397514456 Disease: Pseudohypopa rathyroidism 1C (PHP1C) [MIM:612462]
33812 P63211 (GNGT1) E K 50 rs17243826 Benign
33813 P63252 (KCNJ2) C F 54 rs199473650 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33814 P63252 (KCNJ2) R W 67 rs104894580 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33815 P63252 (KCNJ2) D V 71 rs104894575 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33816 P63252 (KCNJ2) T R 75 rs104894585 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33817 P63252 (KCNJ2) V I 93 rs147750704 Disease: Atrial fibrillation , familial, 9 (ATFB9) [MIM:613980]
33818 P63252 (KCNJ2) D N 172 rs104894584 Disease: Short QT syndrome 3 (SQT3) [MIM:609622]
33819 P63252 (KCNJ2) P L 186 rs104894581 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33820 P63252 (KCNJ2) N H 216 rs104894583 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33821 P63252 (KCNJ2) R W 218 rs104894578 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33822 P63252 (KCNJ2) G V 300 rs104894579 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33823 P63252 (KCNJ2) V M 302 rs104894582 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33824 P63252 (KCNJ2) T P 305 rs199473387 Disease: Long QT syndrome 7 (LQT7) [MIM:170390]
33825 P63261 (ACTG1) T I 89 rs28999111 Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33826 P63261 (ACTG1) K M 118 rs104894544 Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33827 P63261 (ACTG1) K N 118 rs267606630 Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33828 P63261 (ACTG1) T I 120 rs281875325 Disease: Baraitser- Winter syndrome 2 (BRWS2) [MIM:614583]
33829 P63261 (ACTG1) I V 122 rs281875330 Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33830 P63261 (ACTG1) A V 135 rs11549190 Disease: Baraitser- Winter syndrome 2 (BRWS2) [MIM:614583]
33831 P63261 (ACTG1) S F 155 rs281875326 Disease: Baraitser- Winter syndrome 2 (BRWS2) [MIM:614583]
33832 P63261 (ACTG1) T I 160 rs11549206 Benign
33833 P63261 (ACTG1) D H 187 - Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33834 P63261 (ACTG1) T K 203 rs281875327 Disease: Baraitser- Winter syndrome 2 (BRWS2) [MIM:614583]
33835 P63261 (ACTG1) E K 241 rs267606631 Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33836 P63261 (ACTG1) R W 254 rs281875328 Disease: Baraitser- Winter syndrome 2 (BRWS2) [MIM:614583]
33837 P63261 (ACTG1) R W 256 rs281875329 Disease: Baraitser- Winter syndrome 2 (BRWS2) [MIM:614583]
33838 P63261 (ACTG1) P L 264 rs104894546 Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33839 P63261 (ACTG1) T I 278 rs28999112 Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33840 P63261 (ACTG1) P A 332 rs104894545 Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33841 P63261 (ACTG1) V A 370 rs104894547 Disease: Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
33842 P63267 (ACTG2) R C 40 rs587777385 Disease: Visceral myopathy (VSCM) [MIM:155310]
33843 P63267 (ACTG2) R H 40 rs587777386 Disease: Visceral myopathy (VSCM) [MIM:155310]
33844 P63267 (ACTG2) M T 45 rs864309490 Disease: Visceral myopathy (VSCM) [MIM:155310]
33845 P63267 (ACTG2) R G 63 rs864309491 Disease: Visceral myopathy (VSCM) [MIM:155310]
33846 P63267 (ACTG2) P L 110 - Disease: Visceral myopathy (VSCM) [MIM:155310]
33847 P63267 (ACTG2) Y N 134 rs587777388 Disease: Visceral myopathy (VSCM) [MIM:155310]
33848 P63267 (ACTG2) R S 148 rs587777383 Disease: Visceral myopathy (VSCM) [MIM:155310]
33849 P63267 (ACTG2) R C 178 rs78001248 Disease: Visceral myopathy (VSCM) [MIM:155310]
33850 P63267 (ACTG2) R H 178 rs587777384 Disease: Visceral myopathy (VSCM) [MIM:155310]
33851 P63267 (ACTG2) R L 178 rs587777384 Disease: Visceral myopathy (VSCM) [MIM:155310]
33852 P63267 (ACTG2) G D 198 rs864309492 Disease: Visceral myopathy (VSCM) [MIM:155310]
33853 P63267 (ACTG2) R C 257 rs587777387 Disease: Visceral myopathy (VSCM) [MIM:155310]
33854 P63313 (TMSB10) M R 7 rs1804515 Benign
33855 P63316 (TNNC1) A V 8 rs267607125 Disease: Cardiomyopat hy, familial hypertrophic 13 (CMH13) [MIM:613243]
33856 P63316 (TNNC1) L Q 29 rs267607123 Disease: Cardiomyopat hy, familial hypertrophic 13 (CMH13) [MIM:613243]
33857 P63316 (TNNC1) C Y 84 rs267607126 Disease: Cardiomyopat hy, familial hypertrophic 13 (CMH13) [MIM:613243]
33858 P63316 (TNNC1) E D 134 rs397516847 Disease: Cardiomyopat hy, familial hypertrophic 13 (CMH13) [MIM:613243]
33859 P63316 (TNNC1) D E 145 rs267607124 Disease: Cardiomyopat hy, familial hypertrophic 13 (CMH13) [MIM:613243]
33860 P63316 (TNNC1) G R 159 - Disease: Cardiomyopat hy, dilated 1Z (CMD1Z) [MIM:611879]
33861 P67775 (PPP2CA) V A 52 rs11552681 Benign
33862 P67775 (PPP2CA) D G 88 - Disease: Neurodevelop mental disorder and language delay with or without structural brain abnormalitie s (NEDLBA) [MIM:618354]
33863 P67775 (PPP2CA) Q H 122 - Disease: Neurodevelop mental disorder and language delay with or without structural brain abnormalitie s (NEDLBA) [MIM:618354]
33864 P67775 (PPP2CA) Y C 127 - Disease: Neurodevelop mental disorder and language delay with or without structural brain abnormalitie s (NEDLBA) [MIM:618354]
33865 P67775 (PPP2CA) D H 131 - Disease: Neurodevelop mental disorder and language delay with or without structural brain abnormalitie s (NEDLBA) [MIM:618354]
33866 P67775 (PPP2CA) H R 191 rs915349596 Disease: Neurodevelop mental disorder and language delay with or without structural brain abnormalitie s (NEDLBA) [MIM:618354]
33867 P67775 (PPP2CA) D H 223 - Disease: Neurodevelop mental disorder and language delay with or without structural brain abnormalitie s (NEDLBA) [MIM:618354]
33868 P67775 (PPP2CA) D V 223 - Disease: Neurodevelop mental disorder and language delay with or without structural brain abnormalitie s (NEDLBA) [MIM:618354]
33869 P67775 (PPP2CA) Y C 265 - Disease: Neurodevelop mental disorder and language delay with or without structural brain abnormalitie s (NEDLBA) [MIM:618354]
33870 P68032 (ACTC1) H Y 90 rs121912676 Disease: Cardiomyopat hy, familial hypertrophic 11 (CMH11) [MIM:612098]
33871 P68032 (ACTC1) R C 97 rs759495229 Disease: Cardiomyopat hy, familial hypertrophic 11 (CMH11) [MIM:612098]
33872 P68032 (ACTC1) E K 101 rs193922680 Disease: Cardiomyopat hy, familial hypertrophic 11 (CMH11) [MIM:612098]
33873 P68032 (ACTC1) M V 125 rs121912677 Disease: Atrial septal defect 5 (ASD5) [MIM:612794]
33874 P68032 (ACTC1) P A 166 rs267606628 Disease: Cardiomyopat hy, familial hypertrophic 11 (CMH11) [MIM:612098]
33875 P68032 (ACTC1) Y C 168 - Disease: Cardiomyopat hy, familial hypertrophic 11 (CMH11) [MIM:612098]
33876 P68032 (ACTC1) A S 297 rs121912675 Disease: Cardiomyopat hy, familial hypertrophic 11 (CMH11) [MIM:612098]
33877 P68032 (ACTC1) M L 307 - Disease: Cardiomyopat hy, familial hypertrophic 11 (CMH11) [MIM:612098]
33878 P68032 (ACTC1) R H 314 rs121912673 Disease: Cardiomyopat hy, dilated 1R (CMD1R) [MIM:613424]
33879 P68032 (ACTC1) A P 333 rs267606629 Disease: Cardiomyopat hy, familial hypertrophic 11 (CMH11) [MIM:612098]
33880 P68032 (ACTC1) E G 363 rs121912674 Disease: Cardiomyopat hy, dilated 1R (CMD1R) [MIM:613424]
33881 P68133 (ACTA1) D Y 3 rs121909527 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33882 P68133 (ACTA1) G R 17 rs121909521 Disease: Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
33883 P68133 (ACTA1) D N 27 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33884 P68133 (ACTA1) V L 37 rs1553255521 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33885 P68133 (ACTA1) P L 40 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33886 P68133 (ACTA1) H Y 42 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33887 P68133 (ACTA1) Q R 43 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33888 P68133 (ACTA1) G V 44 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33889 P68133 (ACTA1) V F 45 rs398123562 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33890 P68133 (ACTA1) I N 66 rs1553255502 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33891 P68133 (ACTA1) T I 68 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33892 P68133 (ACTA1) P R 72 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33893 P68133 (ACTA1) E K 74 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33894 P68133 (ACTA1) H L 75 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33895 P68133 (ACTA1) H R 75 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33896 P68133 (ACTA1) I L 77 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33897 P68133 (ACTA1) T A 79 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33898 P68133 (ACTA1) E K 85 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33899 P68133 (ACTA1) L P 96 rs121909519 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33900 P68133 (ACTA1) A T 116 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33901 P68133 (ACTA1) A V 116 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33902 P68133 (ACTA1) N S 117 rs121909520 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33903 P68133 (ACTA1) N T 117 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33904 P68133 (ACTA1) R H 118 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33905 P68133 (ACTA1) M V 134 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33906 P68133 (ACTA1) V A 136 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33907 P68133 (ACTA1) I M 138 rs121909526 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33908 P68133 (ACTA1) A P 140 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33909 P68133 (ACTA1) L P 142 rs1553255482 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33910 P68133 (ACTA1) G D 148 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33911 P68133 (ACTA1) T N 150 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33912 P68133 (ACTA1) D N 156 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33913 P68133 (ACTA1) V L 165 rs121909522 Disease: Myopathy, actin, congenital, with excess of thin myofilaments (MPCETM) [MIM:161800]
33914 P68133 (ACTA1) V M 165 rs121909522 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33915 P68133 (ACTA1) A G 172 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33916 P68133 (ACTA1) D G 181 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33917 P68133 (ACTA1) D H 181 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33918 P68133 (ACTA1) D N 181 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33919 P68133 (ACTA1) G D 184 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33920 P68133 (ACTA1) R C 185 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33921 P68133 (ACTA1) R D 185 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33922 P68133 (ACTA1) R G 185 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33923 P68133 (ACTA1) R S 185 rs1064794287 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33924 P68133 (ACTA1) E D 197 rs869312739 Disease: Myopathy, scapulohumer operoneal (SHPM) [MIM:616852]
33925 P68133 (ACTA1) R L 198 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33926 P68133 (ACTA1) G S 199 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33927 P68133 (ACTA1) L P 223 rs121909530 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
33928 P68133 (ACTA1) E G 226 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33929 P68133 (ACTA1) E Q 226 rs1057521118 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33930 P68133 (ACTA1) N V 227 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33931 P68133 (ACTA1) M I 229 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33932 P68133 (ACTA1) M T 229 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33933 P68133 (ACTA1) M V 229 rs794727714 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33934 P68133 (ACTA1) E K 243 rs367543051 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33935 P68133 (ACTA1) Q K 248 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33936 P68133 (ACTA1) Q R 248 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33937 P68133 (ACTA1) G D 253 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33938 P68133 (ACTA1) R H 258 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33939 P68133 (ACTA1) R L 258 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33940 P68133 (ACTA1) E V 261 rs121909523 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33941 P68133 (ACTA1) Q L 265 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33942 P68133 (ACTA1) G C 270 rs121909525 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33943 P68133 (ACTA1) G D 270 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33944 P68133 (ACTA1) G R 270 rs121909525 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33945 P68133 (ACTA1) M R 271 rs1553255360 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33946 P68133 (ACTA1) A E 274 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33947 P68133 (ACTA1) Y H 281 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33948 P68133 (ACTA1) N K 282 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33949 P68133 (ACTA1) M K 285 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33950 P68133 (ACTA1) D G 288 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33951 P68133 (ACTA1) D V 294 rs121909529 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
33952 P68133 (ACTA1) K N 328 rs398122936 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33953 P68133 (ACTA1) P S 334 rs121909531 Disease: Myopathy, congenital, with fiber-type disproportio n (CFTD) [MIM:255310]
33954 P68133 (ACTA1) E A 336 rs121909528 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33955 P68133 (ACTA1) K E 338 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33956 P68133 (ACTA1) K I 338 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33957 P68133 (ACTA1) S L 350 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33958 P68133 (ACTA1) W C 358 rs587777354 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33959 P68133 (ACTA1) I L 359 rs121909524 Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33960 P68133 (ACTA1) V F 372 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33961 P68133 (ACTA1) R S 374 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33962 P68133 (ACTA1) K E 375 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33963 P68133 (ACTA1) K Q 375 - Disease: Nemaline myopathy 3 (NEM3) [MIM:161800]
33964 P68366 (TUBA4A) T P 145 rs730880029 Disease: Amyotrophic lateral sclerosis 22, with or without frontotempor al dementia (ALS22) [MIM:616208]
33965 P68366 (TUBA4A) R C 215 rs730880028 Disease: Amyotrophic lateral sclerosis 22, with or without frontotempor al dementia (ALS22) [MIM:616208]
33966 P68366 (TUBA4A) R C 320 rs730880025 Disease: Amyotrophic lateral sclerosis 22, with or without frontotempor al dementia (ALS22) [MIM:616208]
33967 P68366 (TUBA4A) R H 320 rs730880026 Disease: Amyotrophic lateral sclerosis 22, with or without frontotempor al dementia (ALS22) [MIM:616208]
33968 P68366 (TUBA4A) A T 383 rs368743618 Disease: Amyotrophic lateral sclerosis 22, with or without frontotempor al dementia (ALS22) [MIM:616208]
33969 P68371 (TUBB4B) R C 391 rs1554786802 Disease: Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879]
33970 P68371 (TUBB4B) R H 391 rs1554786803 Disease: Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879]
33971 P68400 (CSNK2A1) R Q 47 rs869312845 Disease: Okur-Chung neurodevelop mental syndrome (OCNDS) [MIM:617062]
33972 P68400 (CSNK2A1) Y S 50 rs869312849 Disease: Okur-Chung neurodevelop mental syndrome (OCNDS) [MIM:617062]
33973 P68400 (CSNK2A1) D G 175 rs869312848 Disease: Okur-Chung neurodevelop mental syndrome (OCNDS) [MIM:617062]
33974 P68400 (CSNK2A1) K R 198 rs869312840 Disease: Okur-Chung neurodevelop mental syndrome (OCNDS) [MIM:617062]
33975 P68431 (H3C1) K M 28 rs1057519904 Disease: Glioma (GLM) [MIM:137800]
33976 P68431 (H3C1) K I 37 - Disease: -
33977 P68431 (H3C1) K M 37 - Disease: -
33978 P68871 (HBB) V A 2 rs33949930 Benign
33979 P68871 (HBB) H L 3 rs33983205 Benign
33980 P68871 (HBB) H Q 3 rs713040 Benign
33981 P68871 (HBB) H R 3 rs33983205 Benign
33982 P68871 (HBB) H Y 3 rs35906307 Benign
33983 P68871 (HBB) P R 6 rs34769005 Benign
33984 P68871 (HBB) E A 7 rs334 Benign
33985 P68871 (HBB) E K 7 rs33930165 Benign
33986 P68871 (HBB) E Q 7 rs33930165 Benign
33987 P68871 (HBB) E V 7 rs334 Disease: Sickle cell anemia (SKCA) [MIM:603903]
33988 P68871 (HBB) E G 8 rs34387455 Benign
33989 P68871 (HBB) E K 8 rs34948328 Benign
33990 P68871 (HBB) K E 9 rs33926764 Benign
33991 P68871 (HBB) K Q 9 rs33926764 Benign
33992 P68871 (HBB) K T 9 rs33932981 Benign
33993 P68871 (HBB) S C 10 rs33918131 Benign
33994 P68871 (HBB) A D 11 rs33947457 Benign
33995 P68871 (HBB) A V 11 rs33947457 Benign
33996 P68871 (HBB) V D 12 rs35140348 Benign
33997 P68871 (HBB) V I 12 rs33974228 Benign
33998 P68871 (HBB) A D 14 rs35203747 Benign
33999 P68871 (HBB) L P 15 rs33935445 Benign
34000 P68871 (HBB) L R 15 rs33935445 Benign
34001 P68871 (HBB) W G 16 rs33946157 Benign
34002 P68871 (HBB) W R 16 rs33946157 Benign
34003 P68871 (HBB) G D 17 rs33962676 Benign
34004 P68871 (HBB) G R 17 rs63751285 Benign
34005 P68871 (HBB) K E 18 rs33986703 Benign
34006 P68871 (HBB) K N 18 rs36006214 Benign
34007 P68871 (HBB) K Q 18 rs33986703 Benign
34008 P68871 (HBB) V M 19 rs35802118 Benign
34009 P68871 (HBB) N D 20 rs34866629 Benign
34010 P68871 (HBB) N K 20 rs63750840 Benign
34011 P68871 (HBB) N S 20 rs33972047 Benign
34012 P68871 (HBB) V M 21 rs35890959 Benign
34013 P68871 (HBB) D G 22 rs33977536 Benign
34014 P68871 (HBB) D H 22 rs33950093 Benign
34015 P68871 (HBB) D N 22 rs33950093 Benign
34016 P68871 (HBB) D Y 22 rs33950093 Benign
34017 P68871 (HBB) E A 23 rs33936254 Benign
34018 P68871 (HBB) E G 23 rs33936254 Benign
34019 P68871 (HBB) E K 23 rs33959855 Benign
34020 P68871 (HBB) E Q 23 rs33959855 Benign
34021 P68871 (HBB) E V 23 rs33936254 Benign
34022 P68871 (HBB) V D 24 rs33945546 Benign
34023 P68871 (HBB) V F 24 rs33929459 Benign
34024 P68871 (HBB) V G 24 rs33945546 Benign
34025 P68871 (HBB) G D 25 rs33968721 Benign
34026 P68871 (HBB) G R 25 rs33972975 Benign
34027 P68871 (HBB) G V 25 rs33968721 Benign
34028 P68871 (HBB) G D 26 rs35474880 Benign
34029 P68871 (HBB) G R 26 rs34404985 Benign
34030 P68871 (HBB) E V 27 rs33915112 Benign
34031 P68871 (HBB) E K 27 rs33950507 Disease: Beta- thalassemia (B-THAL) [MIM:613985]
34032 P68871 (HBB) A D 28 rs33954632 Benign
34033 P68871 (HBB) A S 28 rs35424040 Benign
34034 P68871 (HBB) A V 28 rs33954632 Benign
34035 P68871 (HBB) L P 29 rs33916412 Benign
34036 P68871 (HBB) L Q 29 rs33916412 Benign
34037 P68871 (HBB) G D 30 rs35685286 Benign
34038 P68871 (HBB) R S 31 rs1135071 Benign
34039 P68871 (HBB) L P 32 rs33920173 Benign
34040 P68871 (HBB) L R 33 rs33948578 Benign
34041 P68871 (HBB) L V 33 rs34314652 Benign
34042 P68871 (HBB) V D 35 rs1135101 Benign
34043 P68871 (HBB) V F 35 rs1141387 Benign
34044 P68871 (HBB) V L 35 rs1141387 Benign
34045 P68871 (HBB) Y F 36 rs35857380 Benign
34046 P68871 (HBB) P R 37 rs33993004 Benign
34047 P68871 (HBB) P S 37 rs33948615 Benign
34048 P68871 (HBB) P T 37 rs33948615 Benign
34049 P68871 (HBB) W G 38 rs33994623 Benign
34050 P68871 (HBB) W R 38 rs33994623 Benign
34051 P68871 (HBB) W S 38 rs33991059 Benign
34052 P68871 (HBB) T N 39 rs34703513 Benign
34053 P68871 (HBB) Q E 40 rs11549407 Benign
34054 P68871 (HBB) Q K 40 rs11549407 Benign
34055 P68871 (HBB) Q R 40 rs35973315 Benign
34056 P68871 (HBB) F Y 42 rs33926796 Benign
34057 P68871 (HBB) F L 43 rs33924146 Benign
34058 P68871 (HBB) F S 43 rs34378160 Benign
34059 P68871 (HBB) E Q 44 rs33922842 Benign
34060 P68871 (HBB) S C 45 rs34868397 Benign
34061 P68871 (HBB) F S 46 rs33978338 Benign
34062 P68871 (HBB) G E 47 rs35303218 Benign
34063 P68871 (HBB) D A 48 rs33980484 Benign
34064 P68871 (HBB) D G 48 rs33980484 Benign
34065 P68871 (HBB) D Y 48 rs33932070 Benign
34066 P68871 (HBB) L P 49 rs33952850 Benign
34067 P68871 (HBB) S F 50 rs33960931 Benign
34068 P68871 (HBB) P R 52 rs33969727 Benign
34069 P68871 (HBB) D A 53 rs33919924 Benign
34070 P68871 (HBB) D H 53 rs33961886 Benign
34071 P68871 (HBB) V D 55 rs34037627 Benign
34072 P68871 (HBB) M K 56 rs35094013 Benign
34073 P68871 (HBB) G R 57 rs33935983 Benign
34074 P68871 (HBB) N K 58 rs35278874 Benign
34075 P68871 (HBB) P R 59 rs33991472 Benign
34076 P68871 (HBB) K E 60 rs33969400 Benign
34077 P68871 (HBB) V A 61 rs33931779 Benign
34078 P68871 (HBB) K E 62 rs33995148 Benign
34079 P68871 (HBB) K M 62 rs34974709 Benign
34080 P68871 (HBB) K N 62 rs34446260 Benign
34081 P68871 (HBB) A D 63 rs34151786 Benign
34082 P68871 (HBB) A P 63 rs34933455 Benign
34083 P68871 (HBB) H Y 64 rs33922873 Benign
34084 P68871 (HBB) K M 66 rs33932548 Benign
34085 P68871 (HBB) K N 66 rs35747961 Benign
34086 P68871 (HBB) K Q 66 rs35353749 Benign
34087 P68871 (HBB) K T 67 rs35939489 Benign
34088 P68871 (HBB) V A 68 rs33918343 Benign
34089 P68871 (HBB) V G 68 rs33918343 Benign
34090 P68871 (HBB) V M 68 rs36008922 Benign
34091 P68871 (HBB) L H 69 rs33972593 Benign
34092 P68871 (HBB) L P 69 rs33972593 Benign
34093 P68871 (HBB) G D 70 rs34718174 Benign
34094 P68871 (HBB) G R 70 rs33947415 Benign
34095 P68871 (HBB) G S 70 rs33947415 Benign
34096 P68871 (HBB) A D 71 rs33946401 Benign
34097 P68871 (HBB) F S 72 rs34362537 Benign
34098 P68871 (HBB) D G 74 rs33967755 Benign
34099 P68871 (HBB) D V 74 rs33967755 Benign
34100 P68871 (HBB) D Y 74 rs33945705 Benign
34101 P68871 (HBB) G R 75 rs33916541 Benign
34102 P68871 (HBB) G V 75 rs33976006 Benign
34103 P68871 (HBB) L P 76 rs33950542 Benign
34104 P68871 (HBB) L R 76 rs33950542 Benign
34105 P68871 (HBB) A D 77 rs33985847 Benign
34106 P68871 (HBB) H D 78 rs33991294 Benign
34107 P68871 (HBB) H R 78 rs33952543 Benign
34108 P68871 (HBB) H Y 78 rs33991294 Benign
34109 P68871 (HBB) L R 79 rs34870172 Benign
34110 P68871 (HBB) D Y 80 rs33990858 Benign
34111 P68871 (HBB) N K 81 rs35890380 Benign
34112 P68871 (HBB) L H 82 rs33936967 Benign
34113 P68871 (HBB) L R 82 rs33936967 Benign
34114 P68871 (HBB) L V 82 rs11549406 Benign
34115 P68871 (HBB) K M 83 rs33987903 Benign
34116 P68871 (HBB) K N 83 rs33991993 Benign
34117 P68871 (HBB) G D 84 rs1803195 Benign
34118 P68871 (HBB) G R 84 rs33930385 Benign
34119 P68871 (HBB) T I 85 rs35914488 Benign
34120 P68871 (HBB) A D 87 rs35819837 Benign
34121 P68871 (HBB) T I 88 rs33993568 Benign
34122 P68871 (HBB) T K 88 rs33993568 Benign
34123 P68871 (HBB) T P 88 rs35553496 Benign
34124 P68871 (HBB) L P 89 rs33940204 Benign
34125 P68871 (HBB) L R 89 rs33940204 Benign
34126 P68871 (HBB) S N 90 rs33917628 Benign
34127 P68871 (HBB) S R 90 rs35351128 Benign
34128 P68871 (HBB) E D 91 rs35002698 Benign
34129 P68871 (HBB) E K 91 rs33913712 Benign
34130 P68871 (HBB) L P 92 rs33917785 Benign
34131 P68871 (HBB) L R 92 rs33917785 Benign
34132 P68871 (HBB) H D 93 rs33924775 Benign
34133 P68871 (HBB) H N 93 rs33924775 Benign
34134 P68871 (HBB) H P 93 rs33974325 Benign
34135 P68871 (HBB) H Q 93 rs34083951 Benign
34136 P68871 (HBB) C R 94 rs33972927 Benign
34137 P68871 (HBB) D G 95 rs34579351 Benign
34138 P68871 (HBB) D H 95 rs33959340 Benign
34139 P68871 (HBB) D N 95 rs33959340 Benign
34140 P68871 (HBB) K M 96 rs35204496 Benign
34141 P68871 (HBB) K N 96 rs36038739 Benign
34142 P68871 (HBB) L P 97 rs36081208 Benign
34143 P68871 (HBB) L V 97 rs34665886 Benign
34144 P68871 (HBB) H L 98 rs33951978 Benign
34145 P68871 (HBB) H P 98 rs33951978 Benign
34146 P68871 (HBB) H Q 98 rs34515413 Benign
34147 P68871 (HBB) H Y 98 rs33950993 Benign
34148 P68871 (HBB) V G 99 rs33985510 Benign
34149 P68871 (HBB) D E 100 rs34013622 Benign
34150 P68871 (HBB) P L 101 rs33965000 Benign
34151 P68871 (HBB) P R 101 rs33965000 Benign
34152 P68871 (HBB) E D 102 rs35209591 Benign
34153 P68871 (HBB) E G 102 rs33937393 Benign
34154 P68871 (HBB) E K 102 rs33966487 Benign
34155 P68871 (HBB) E Q 102 rs33966487 Benign
34156 P68871 (HBB) N S 103 rs33948057 Benign
34157 P68871 (HBB) N Y 103 rs33927739 Benign
34158 P68871 (HBB) F L 104 rs35067717 Benign
34159 P68871 (HBB) R S 105 rs33914944 Benign
34160 P68871 (HBB) R T 105 rs33911434 Benign
34161 P68871 (HBB) G R 108 rs35017910 Benign
34162 P68871 (HBB) N K 109 rs34933751 Benign
34163 P68871 (HBB) V M 110 rs33969677 Benign
34164 P68871 (HBB) L P 111 rs35256489 Benign
34165 P68871 (HBB) V A 112 rs35871407 Benign
34166 P68871 (HBB) C F 113 rs33932908 Benign
34167 P68871 (HBB) C R 113 rs35849199 Benign
34168 P68871 (HBB) C Y 113 rs33932908 Benign
34169 P68871 (HBB) L M 115 rs33917394 Benign
34170 P68871 (HBB) L P 115 rs36015961 Disease: Beta- thalassemia (B-THAL) [MIM:613985]
34171 P68871 (HBB) A P 116 rs34945623 Benign
34172 P68871 (HBB) A D 116 rs35485099 Disease: Beta- thalassemia (B-THAL) [MIM:613985]
34173 P68871 (HBB) H L 117 rs33978082 Benign
34174 P68871 (HBB) H Q 117 rs35209776 Benign
34175 P68871 (HBB) H P 118 rs33935673 Benign
34176 P68871 (HBB) H R 118 rs33935673 Benign
34177 P68871 (HBB) H Y 118 rs33935527 Benign
34178 P68871 (HBB) G A 120 rs33947020 Benign
34179 P68871 (HBB) K E 121 rs33924134 Benign
34180 P68871 (HBB) K I 121 rs34303736 Benign
34181 P68871 (HBB) K Q 121 rs33924134 Benign
34182 P68871 (HBB) E A 122 rs33987957 Benign
34183 P68871 (HBB) E G 122 rs33987957 Benign
34184 P68871 (HBB) E K 122 rs33946267 Benign
34185 P68871 (HBB) E Q 122 rs33946267 Benign
34186 P68871 (HBB) E V 122 rs33987957 Benign
34187 P68871 (HBB) T I 124 rs33935383 Benign
34188 P68871 (HBB) P Q 125 rs33983276 Benign
34189 P68871 (HBB) P R 125 rs33983276 Benign
34190 P68871 (HBB) P S 125 rs35461710 Benign
34191 P68871 (HBB) V A 127 rs33925391 Benign
34192 P68871 (HBB) V E 127 rs33925391 Benign
34193 P68871 (HBB) V G 127 rs33925391 Disease: Beta- thalassemia (B-THAL) [MIM:613985]
34194 P68871 (HBB) Q E 128 rs33971634 Benign
34195 P68871 (HBB) Q K 128 rs33971634 Benign
34196 P68871 (HBB) A D 129 rs33957286 Benign
34197 P68871 (HBB) A P 130 rs35939430 Benign
34198 P68871 (HBB) A V 130 rs111645889 Benign
34199 P68871 (HBB) Y D 131 rs35834416 Benign
34200 P68871 (HBB) Y S 131 rs33937535 Benign
34201 P68871 (HBB) Q E 132 rs33910209 Benign
34202 P68871 (HBB) Q K 132 rs33910209 Benign
34203 P68871 (HBB) Q P 132 rs33950778 Benign
34204 P68871 (HBB) Q R 132 rs33950778 Benign
34205 P68871 (HBB) K N 133 rs33946775 Benign
34206 P68871 (HBB) K Q 133 rs33953406 Benign
34207 P68871 (HBB) V L 134 rs34095019 Benign
34208 P68871 (HBB) V E 135 rs33966761 Benign
34209 P68871 (HBB) A D 136 rs35669628 Benign
34210 P68871 (HBB) A P 136 rs35492035 Benign
34211 P68871 (HBB) G D 137 rs33949486 Benign
34212 P68871 (HBB) A P 139 rs33919821 Benign
34213 P68871 (HBB) N D 140 rs33910475 Benign
34214 P68871 (HBB) N K 140 rs34240441 Benign
34215 P68871 (HBB) N Y 140 rs33910475 Benign
34216 P68871 (HBB) A D 141 rs33927093 Benign
34217 P68871 (HBB) A T 141 rs34980264 Benign
34218 P68871 (HBB) A V 141 rs33927093 Benign
34219 P68871 (HBB) L R 142 rs35854892 Benign
34220 P68871 (HBB) A D 143 rs33921821 Benign
34221 P68871 (HBB) H D 144 rs33929415 Benign
34222 P68871 (HBB) H P 144 rs33918338 Benign
34223 P68871 (HBB) H Q 144 rs36020563 Benign
34224 P68871 (HBB) H R 144 rs33918338 Benign
34225 P68871 (HBB) K E 145 rs33964352 Benign
34226 P68871 (HBB) Y C 146 rs35117167 Benign
34227 P68871 (HBB) Y H 146 rs33949869 Benign
34228 P68871 (HBB) H D 147 rs33961444 Benign
34229 P68871 (HBB) H L 147 rs33954264 Benign
34230 P68871 (HBB) H P 147 rs33954264 Benign
34231 P68871 (HBB) H Q 147 rs33985739 Benign
34232 P69891 (HBG1) H Q 3 rs35315638 Benign
34233 P69891 (HBG1) E K 6 rs34427034 Benign
34234 P69891 (HBG1) E G 7 rs34432567 Benign
34235 P69891 (HBG1) E Q 7 rs33924825 Benign
34236 P69891 (HBG1) T R 13 rs33992775 Benign
34237 P69891 (HBG1) D G 23 rs33970907 Benign
34238 P69891 (HBG1) G R 26 rs35957832 Benign
34239 P69891 (HBG1) P R 37 rs41404150 Benign
34240 P69891 (HBG1) W G 38 rs35700518 Benign
34241 P69891 (HBG1) Q R 40 rs35977759 Benign
34242 P69891 (HBG1) R K 41 rs33974602 Benign
34243 P69891 (HBG1) D N 44 rs41475844 Benign
34244 P69891 (HBG1) A D 54 rs35746147 Benign
34245 P69891 (HBG1) K E 62 rs34747494 Benign
34246 P69891 (HBG1) G R 73 rs281860594 Benign
34247 P69891 (HBG1) D H 74 rs33965337 Benign
34248 P69891 (HBG1) D N 74 rs33965337 Benign
34249 P69891 (HBG1) I T 76 rs1061234 Benign
34250 P69891 (HBG1) D N 80 rs34435255 Benign
34251 P69891 (HBG1) D N 81 rs63751148 Benign
34252 P69891 (HBG1) D Y 81 rs63751148 Benign
34253 P69891 (HBG1) H R 98 rs34127117 Benign
34254 P69891 (HBG1) E K 122 rs33963857 Benign
34255 P69891 (HBG1) A T 129 rs41330850 Benign
34256 P69891 (HBG1) V M 135 rs35849660 Benign
34257 P69892 (HBG2) G C 2 rs36006195 Benign
34258 P69892 (HBG2) E G 6 rs34263826 Benign
34259 P69892 (HBG2) D N 8 rs34501593 Benign
34260 P69892 (HBG2) K E 9 rs35521813 Benign
34261 P69892 (HBG2) K Q 9 rs35521813 Benign
34262 P69892 (HBG2) T R 13 rs281864890 Benign
34263 P69892 (HBG2) W R 16 rs34438981 Benign
34264 P69892 (HBG2) G R 17 rs34907654 Benign
34265 P69892 (HBG2) K N 18 rs35621390 Benign
34266 P69892 (HBG2) N K 20 rs34018799 Benign
34267 P69892 (HBG2) V A 21 rs63751196 Benign
34268 P69892 (HBG2) E K 22 rs33955330 Benign
34269 P69892 (HBG2) E Q 22 rs33955330 Benign
34270 P69892 (HBG2) D G 23 rs281864891 Benign
34271 P69892 (HBG2) D V 23 rs281864891 Benign
34272 P69892 (HBG2) G E 26 rs35687396 Benign
34273 P69892 (HBG2) E K 27 rs35654328 Benign
34274 P69892 (HBG2) V I 35 rs35885783 Benign
34275 P69892 (HBG2) T P 39 rs35799058 Benign
34276 P69892 (HBG2) R G 41 rs34532478 Benign
34277 P69892 (HBG2) R K 41 rs281864892 Benign
34278 P69892 (HBG2) F S 42 rs34878913 Disease: Cyanosis transient neonatal (TNCY) [MIM:613977]
34279 P69892 (HBG2) S R 45 rs34017450 Benign
34280 P69892 (HBG2) M R 56 rs34915311 Benign
34281 P69892 (HBG2) K E 60 rs28933078 Benign
34282 P69892 (HBG2) K Q 60 rs28933078 Benign
34283 P69892 (HBG2) H L 64 - Disease: Cyanosis transient neonatal (TNCY) [MIM:613977]
34284 P69892 (HBG2) H Y 64 rs34474104 Disease: Cyanosis transient neonatal (TNCY) [MIM:613977]
34285 P69892 (HBG2) K N 66 rs34019507 Benign
34286 P69892 (HBG2) K Q 67 rs34264694 Benign
34287 P69892 (HBG2) K R 67 rs35481866 Benign
34288 P69892 (HBG2) V M 68 rs587776864 Disease: Cyanosis transient neonatal (TNCY) [MIM:613977]
34289 P69892 (HBG2) G R 73 rs281860594 Benign
34290 P69892 (HBG2) I T 76 rs1061234 Benign
34291 P69892 (HBG2) I V 76 rs34363111 Benign
34292 P69892 (HBG2) H R 78 rs34150306 Benign
34293 P69892 (HBG2) D N 81 rs63751148 Benign
34294 P69892 (HBG2) H Y 93 rs35103459 Disease: Cyanosis transient neonatal (TNCY) [MIM:613977]
34295 P69892 (HBG2) D N 95 rs35812514 Benign
34296 P69892 (HBG2) E K 102 rs34876238 Benign
34297 P69892 (HBG2) K N 105 rs35717854 Benign
34298 P69892 (HBG2) L H 106 - Disease: Cyanosis transient neonatal (TNCY) [MIM:613977]
34299 P69892 (HBG2) H R 118 rs36049074 Benign
34300 P69892 (HBG2) F L 119 rs35020253 Benign
34301 P69892 (HBG2) K Q 121 rs34703519 Benign
34302 P69892 (HBG2) E K 122 rs63750021 Benign
34303 P69892 (HBG2) E A 126 rs34997902 Benign
34304 P69892 (HBG2) W G 131 rs35826780 Benign
34305 P69892 (HBG2) H Y 147 rs34807671 Benign
34306 P69905 (HBA1) V E 2 rs33981821 Benign
34307 P69905 (HBA1) L R 3 rs36030576 Benign
34308 P69905 (HBA1) A D 6 rs34090856 Benign
34309 P69905 (HBA1) A P 6 rs34751764 Benign
34310 P69905 (HBA1) D A 7 rs33986902 Benign
34311 P69905 (HBA1) D G 7 rs281864805 Benign
34312 P69905 (HBA1) D N 7 rs33961916 Benign
34313 P69905 (HBA1) D V 7 rs281864805 Benign
34314 P69905 (HBA1) D Y 7 rs281864806 Benign
34315 P69905 (HBA1) K E 8 rs34817956 Benign
34316 P69905 (HBA1) N T 10 rs281860608 Benign
34317 P69905 (HBA1) K E 12 rs33938574 Benign
34318 P69905 (HBA1) A D 13 rs35615982 Benign
34319 P69905 (HBA1) A P 14 rs35331909 Benign
34320 P69905 (HBA1) W R 15 rs33964317 Benign
34321 P69905 (HBA1) G R 16 rs35816645 Benign
34322 P69905 (HBA1) K M 17 rs35210126 Benign
34323 P69905 (HBA1) K N 17 rs281860648 Benign
34324 P69905 (HBA1) G D 19 rs35993097 Benign
34325 P69905 (HBA1) G R 19 rs34504387 Benign
34326 P69905 (HBA1) A E 20 rs35628685 Benign
34327 P69905 (HBA1) H Q 21 rs41525149 Benign
34328 P69905 (HBA1) H R 21 rs33943087 Benign
34329 P69905 (HBA1) A D 22 rs11548605 Benign
34330 P69905 (HBA1) A P 22 rs34324664 Benign
34331 P69905 (HBA1) G D 23 rs34608326 Benign
34332 P69905 (HBA1) E G 24 rs33939421 Benign
34333 P69905 (HBA1) E K 24 rs281864819 Benign
34334 P69905 (HBA1) Y H 25 rs281864821 Benign
34335 P69905 (HBA1) A E 27 rs281864822 Benign
34336 P69905 (HBA1) A V 27 rs281864822 Benign
34337 P69905 (HBA1) E D 28 rs281865556 Benign
34338 P69905 (HBA1) E G 28 rs281864823 Benign
34339 P69905 (HBA1) E V 28 rs281864823 Benign
34340 P69905 (HBA1) E K 31 rs111033605 Benign
34341 P69905 (HBA1) R K 32 rs281864543 Benign
34342 P69905 (HBA1) R S 32 rs111033606 Benign
34343 P69905 (HBA1) L R 35 rs281864825 Benign
34344 P69905 (HBA1) P R 38 rs281864826 Benign
34345 P69905 (HBA1) K M 41 rs281864828 Benign
34346 P69905 (HBA1) T S 42 rs281860623 Benign
34347 P69905 (HBA1) F L 44 rs41491146 Benign
34348 P69905 (HBA1) P L 45 rs33978134 Benign
34349 P69905 (HBA1) P R 45 rs281864830 Benign
34350 P69905 (HBA1) H Q 46 rs281860624 Benign
34351 P69905 (HBA1) H R 46 rs281864831 Benign
34352 P69905 (HBA1) D A 48 rs281864833 Benign
34353 P69905 (HBA1) D G 48 rs281864833 Benign
34354 P69905 (HBA1) D H 48 rs281864834 Benign
34355 P69905 (HBA1) D Y 48 rs281864834 Benign
34356 P69905 (HBA1) L R 49 rs41392146 Benign
34357 P69905 (HBA1) S R 50 rs41518249 Benign
34358 P69905 (HBA1) H R 51 rs281864835 Benign
34359 P69905 (HBA1) G D 52 rs281864836 Benign
34360 P69905 (HBA1) G R 52 rs281864837 Benign
34361 P69905 (HBA1) A D 54 rs281864838 Benign
34362 P69905 (HBA1) Q R 55 rs281864839 Benign
34363 P69905 (HBA1) K R 57 rs281864841 Benign
34364 P69905 (HBA1) K T 57 rs281864841 Benign
34365 P69905 (HBA1) G R 58 rs281864843 Benign
34366 P69905 (HBA1) H Q 59 rs41378349 Benign
34367 P69905 (HBA1) H Y 59 rs281864845 Benign
34368 P69905 (HBA1) G D 60 rs28928878 Benign
34369 P69905 (HBA1) G V 60 rs281864846 Benign
34370 P69905 (HBA1) K N 61 rs281860659 Benign
34371 P69905 (HBA1) K N 62 rs33985574 Benign
34372 P69905 (HBA1) K T 62 rs281865558 Benign
34373 P69905 (HBA1) V M 63 rs41515649 Benign
34374 P69905 (HBA1) A D 64 rs34502246 Benign
34375 P69905 (HBA1) D Y 65 rs33984024 Benign
34376 P69905 (HBA1) N K 69 rs1060339 Benign
34377 P69905 (HBA1) A E 72 rs281864853 Benign
34378 P69905 (HBA1) A V 72 rs281864853 Benign
34379 P69905 (HBA1) H R 73 rs281864854 Benign
34380 P69905 (HBA1) D A 75 rs281864856 Benign
34381 P69905 (HBA1) D G 75 rs33921047 Benign
34382 P69905 (HBA1) D N 75 rs281864857 Benign
34383 P69905 (HBA1) D A 76 rs33991223 Benign
34384 P69905 (HBA1) D H 76 rs281864858 Benign
34385 P69905 (HBA1) M K 77 rs33969953 Benign
34386 P69905 (HBA1) M T 77 rs33969953 Benign
34387 P69905 (HBA1) P R 78 rs281864861 Benign
34388 P69905 (HBA1) N H 79 rs111033602 Benign
34389 P69905 (HBA1) N K 79 rs281860607 Benign
34390 P69905 (HBA1) A G 80 rs281860603 Benign
34391 P69905 (HBA1) L R 81 rs281864863 Benign
34392 P69905 (HBA1) S C 82 rs281864864 Benign
34393 P69905 (HBA1) A D 83 rs281864865 Benign
34394 P69905 (HBA1) S R 85 rs281860612 Benign
34395 P69905 (HBA1) D V 86 rs41331747 Benign
34396 P69905 (HBA1) D Y 86 rs281864777 Benign
34397 P69905 (HBA1) L R 87 rs281864866 Benign
34398 P69905 (HBA1) H N 88 rs281864868 Benign
34399 P69905 (HBA1) H R 88 rs281864867 Benign
34400 P69905 (HBA1) A S 89 rs35239527 Benign
34401 P69905 (HBA1) K M 91 rs281864873 Benign
34402 P69905 (HBA1) L F 92 rs281864494 Benign
34403 P69905 (HBA1) L P 92 rs281864874 Benign
34404 P69905 (HBA1) R Q 93 rs281864875 Benign
34405 P69905 (HBA1) R W 93 rs281864876 Benign
34406 P69905 (HBA1) D A 95 rs281864879 Benign
34407 P69905 (HBA1) D Y 95 rs281864878 Benign
34408 P69905 (HBA1) P A 96 rs281864881 Benign
34409 P69905 (HBA1) P T 96 rs281864881 Benign
34410 P69905 (HBA1) N K 98 rs41338947 Benign
34411 P69905 (HBA1) K E 100 rs281864882 Benign
34412 P69905 (HBA1) S R 103 rs41344646 Benign
34413 P69905 (HBA1) H R 104 rs63750752 Benign
34414 P69905 (HBA1) H Y 104 rs63750073 Benign
34415 P69905 (HBA1) L R 110 rs41479844 Benign
34416 P69905 (HBA1) A D 111 rs28928889 Benign
34417 P69905 (HBA1) H D 113 rs281864885 Benign
34418 P69905 (HBA1) L H 114 rs281860618 Benign
34419 P69905 (HBA1) P L 115 rs267607269 Benign
34420 P69905 (HBA1) P R 115 rs267607269 Benign
34421 P69905 (HBA1) P S 115 rs281864887 Benign
34422 P69905 (HBA1) A D 116 rs281864888 Benign
34423 P69905 (HBA1) E A 117 rs281864946 Benign
34424 P69905 (HBA1) A E 121 rs36075744 Benign
34425 P69905 (HBA1) V M 122 rs35187567 Benign
34426 P69905 (HBA1) H Q 123 rs41479347 Benign
34427 P69905 (HBA1) L P 126 rs41397847 Benign
34428 P69905 (HBA1) L R 126 rs41397847 Benign
34429 P69905 (HBA1) D G 127 rs33957766 Benign
34430 P69905 (HBA1) D V 127 rs33957766 Benign
34431 P69905 (HBA1) D Y 127 rs33933481 Benign
34432 P69905 (HBA1) K N 128 rs33972894 Benign
34433 P69905 (HBA1) L P 130 rs281864889 Benign
34434 P69905 (HBA1) A D 131 rs41528545 Benign
34435 P69905 (HBA1) A P 131 rs41529844 Benign
34436 P69905 (HBA1) S P 132 rs63751417 Benign
34437 P69905 (HBA1) S R 134 rs56308100 Benign
34438 P69905 (HBA1) V E 136 rs63749809 Benign
34439 P69905 (HBA1) L M 137 rs41364652 Benign
34440 P69905 (HBA1) L P 137 rs41469945 Benign
34441 P69905 (HBA1) L R 137 rs41469945 Benign
34442 P69905 (HBA1) S P 139 rs63750801 Benign
34443 P69905 (HBA1) K E 140 rs41361546 Benign
34444 P69905 (HBA1) K T 140 rs56348461 Benign
34445 P69905 (HBA1) Y H 141 rs55870409 Benign
34446 P69905 (HBA1) R C 142 rs63750134 Benign
34447 P69905 (HBA1) R H 142 rs33935328 Benign
34448 P69905 (HBA1) R L 142 rs33935328 Benign
34449 P69905 (HBA1) R P 142 rs33935328 Benign
34450 P78310 (CXADR) S R 323 rs34727960 Benign
34451 P78312 (FAM193A) M V 192 rs17164077 Benign
34452 P78312 (FAM193A) I V 1115 rs17681870 Benign
34453 P78314 (SH3BP2) R P 415 rs121909149 Disease: Cherubism (CRBM) [MIM:118400]
34454 P78314 (SH3BP2) R Q 415 rs121909149 Disease: Cherubism (CRBM) [MIM:118400]
34455 P78314 (SH3BP2) P H 418 rs121909146 Disease: Cherubism (CRBM) [MIM:118400]
34456 P78314 (SH3BP2) P L 418 rs121909146 Disease: Cherubism (CRBM) [MIM:118400]
34457 P78314 (SH3BP2) P R 418 rs121909146 Disease: Cherubism (CRBM) [MIM:118400]
34458 P78314 (SH3BP2) G E 420 rs28938171 Disease: Cherubism (CRBM) [MIM:118400]
34459 P78314 (SH3BP2) G R 420 rs28938170 Disease: Cherubism (CRBM) [MIM:118400]
34460 P78316 (NOP14) L S 380 rs2515960 Benign
34461 P78316 (NOP14) Q R 716 rs1054090 Benign
34462 P78318 (IGBP1) R K 20 rs6625580 Benign
34463 P78324 (SIRPA) A P 20 - Benign
34464 P78324 (SIRPA) D E 40 rs1349896458 Benign
34465 P78324 (SIRPA) L S 44 rs143735290 Benign
34466 P78324 (SIRPA) T S 50 rs17855609 Benign
34467 P78324 (SIRPA) T I 52 rs17855610 Benign
34468 P78324 (SIRPA) R H 54 rs17855611 Benign
34469 P78324 (SIRPA) A V 57 rs17855612 Benign
34470 P78324 (SIRPA) I N 61 rs1371837011 Benign
34471 P78324 (SIRPA) W R 68 - Benign
34472 P78324 (SIRPA) G A 75 rs1057114 Benign
34473 P78324 (SIRPA) E K 77 rs1182420620 Benign
34474 P78324 (SIRPA) N H 81 - Benign
34475 P78324 (SIRPA) D E 95 rs138283486 Benign
34476 P78324 (SIRPA) L S 96 - Benign
34477 P78324 (SIRPA) N E 100 rs386811662 Benign
34478 P78324 (SIRPA) R S 107 rs17855615 Benign
34479 P78324 (SIRPA) G S 109 rs17855616 Benign
34480 P78324 (SIRPA) R Q 125 rs767136065 Benign
34481 P78324 (SIRPA) V T 132 rs386811663 Benign
34482 P78324 (SIRPA) F L 134 - Benign
34483 P78324 (SIRPA) T S 181 - Benign
34484 P78324 (SIRPA) E Q 190 - Benign
34485 P78324 (SIRPA) K N 214 - Benign
34486 P78324 (SIRPA) E G 220 - Benign
34487 P78324 (SIRPA) V I 222 rs143385810 Benign
34488 P78324 (SIRPA) Q R 236 - Benign
34489 P78324 (SIRPA) R Q 251 rs377448893 Benign
34490 P78324 (SIRPA) Q L 261 - Benign
34491 P78324 (SIRPA) V M 263 rs754806675 Benign
34492 P78324 (SIRPA) V I 271 - Benign
34493 P78324 (SIRPA) R T 276 - Benign
34494 P78324 (SIRPA) V L 302 rs2422666 Benign
34495 P78324 (SIRPA) P S 339 - Benign
34496 P78324 (SIRPA) P L 353 rs138876160 Benign
34497 P78324 (SIRPA) G S 357 rs1200233096 Benign
34498 P78324 (SIRPA) S P 367 - Benign
34499 P78324 (SIRPA) R Q 370 rs778218860 Benign
34500 P78324 (SIRPA) A E 389 - Benign
34501 P78324 (SIRPA) Q R 443 - Benign
34502 P78324 (SIRPA) P L 460 rs1168490568 Benign
34503 P78324 (SIRPA) P L 491 rs367629199 Benign
34504 P78325 (ADAM8) W R 35 rs2275725 Benign
34505 P78325 (ADAM8) G R 101 rs11101675 Benign
34506 P78325 (ADAM8) R W 189 rs45451297 Benign
34507 P78325 (ADAM8) R C 433 rs12257830 Benign
34508 P78325 (ADAM8) F L 657 rs2275720 Benign
34509 P78325 (ADAM8) I T 775 rs3008319 Benign
34510 P78329 (CYP4F2) S Y 7 rs3093104 Benign
34511 P78329 (CYP4F2) W G 12 rs3093105 Benign
34512 P78329 (CYP4F2) G V 185 rs3093153 Benign
34513 P78329 (CYP4F2) A D 269 rs1805040 Benign
34514 P78329 (CYP4F2) V M 433 rs2108622 Benign
34515 P78329 (CYP4F2) L M 519 rs3093200 Benign
34516 P78330 (PSPH) D N 32 rs104894035 Disease: Phosphoserin e phosphatase deficiency (PSPHD) [MIM:614023]
34517 P78330 (PSPH) M T 52 rs104894036 Disease: Phosphoserin e phosphatase deficiency (PSPHD) [MIM:614023]
34518 P78332 (RBM6) N T 721 rs34707170 Benign
34519 P78333 (GPC5) A V 155 rs553717 Benign
34520 P78334 (GABRE) L F 9 rs17855708 Benign
34521 P78334 (GABRE) S A 102 rs1139916 Benign
34522 P78337 (PITX1) E K 130 rs121909109 Disease: Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800]
34523 P78337 (PITX1) G A 299 rs479632 Benign
34524 P78344 (EIF4G2) L M 236 rs34885591 Benign
34525 P78345 (RPP38) I V 86 rs3814171 Benign
34526 P78345 (RPP38) E D 88 rs1052157 Benign
34527 P78345 (RPP38) A V 114 rs1132078 Benign
34528 P78345 (RPP38) A G 181 rs15772 Benign
34529 P78345 (RPP38) S R 202 rs12249258 Benign
34530 P78345 (RPP38) I T 212 rs10242 Benign
34531 P78345 (RPP38) R G 250 rs34040166 Benign
34532 P78346 (RPP30) G D 12 rs11544145 Benign
34533 P78347 (GTF2I) L V 174 rs1057896 Benign
34534 P78357 (CNTNAP1) P Q 50 - Disease: Neuropathy, congenital hypomyelinat ing, 3 (CHN3) [MIM:618186]
34535 P78357 (CNTNAP1) L P 212 - Disease: Neuropathy, congenital hypomyelinat ing, 3 (CHN3) [MIM:618186]
34536 P78357 (CNTNAP1) C R 323 rs768554986 Disease: Lethal congenital contracture syndrome 7 (LCCS7) [MIM:616286]
34537 P78357 (CNTNAP1) R P 388 rs779027563 Disease: Neuropathy, congenital hypomyelinat ing, 3 (CHN3) [MIM:618186]
34538 P78357 (CNTNAP1) V L 522 rs35437096 Benign
34539 P78357 (CNTNAP1) R P 714 - Disease: Neuropathy, congenital hypomyelinat ing, 3 (CHN3) [MIM:618186]
34540 P78357 (CNTNAP1) R C 764 rs761805324 Disease: Neuropathy, congenital hypomyelinat ing, 3 (CHN3) [MIM:618186]
34541 P78362 (SRPK2) P L 43 rs34699980 Benign
34542 P78362 (SRPK2) T P 426 rs55743527 Benign
34543 P78362 (SRPK2) S F 486 rs56112661 Benign
34544 P78362 (SRPK2) P T 515 rs56017595 Benign
34545 P78362 (SRPK2) S N 608 rs1050413 Benign
34546 P78362 (SRPK2) L I 615 rs1050418 Benign
34547 P78363 (ABCA4) L P 11 rs62645946 Disease: Fundus flavimaculat us (FFM) [MIM:248200]
34548 P78363 (ABCA4) R W 18 rs121909205 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34549 P78363 (ABCA4) R H 24 rs62645958 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34550 P78363 (ABCA4) C Y 54 rs150774447 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34551 P78363 (ABCA4) N K 58 rs61748524 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34552 P78363 (ABCA4) A E 60 - Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34553 P78363 (ABCA4) A T 60 rs61751411 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34554 P78363 (ABCA4) A V 60 rs55732384 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34555 P78363 (ABCA4) G E 65 rs62654395 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34556 P78363 (ABCA4) P L 68 rs62654397 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34557 P78363 (ABCA4) P R 68 rs62654397 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34558 P78363 (ABCA4) G R 72 rs61751412 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34559 P78363 (ABCA4) C G 75 rs61748526 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34560 P78363 (ABCA4) V E 77 rs61748527 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34561 P78363 (ABCA4) N D 96 rs61748529 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34562 P78363 (ABCA4) N H 96 rs61748529 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34563 P78363 (ABCA4) S P 100 rs61748530 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34564 P78363 (ABCA4) R Q 152 rs62646862 Benign
34565 P78363 (ABCA4) I V 156 rs62646863 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34566 P78363 (ABCA4) Q H 190 rs281865397 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34567 P78363 (ABCA4) A T 192 rs61748535 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34568 P78363 (ABCA4) S R 206 rs61748536 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34569 P78363 (ABCA4) R H 212 rs6657239 Benign
34570 P78363 (ABCA4) R C 212 rs61750200 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34571 P78363 (ABCA4) R C 220 rs61748538 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34572 P78363 (ABCA4) C S 230 rs1057518767 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34573 P78363 (ABCA4) L P 244 rs62646864 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34574 P78363 (ABCA4) N S 247 rs62645950 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34575 P78363 (ABCA4) D G 249 rs62646865 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34576 P78363 (ABCA4) T N 300 rs61748544 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34577 P78363 (ABCA4) P R 309 rs61748545 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34578 P78363 (ABCA4) E V 328 rs61751419 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34579 P78363 (ABCA4) R W 333 rs61748546 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34580 P78363 (ABCA4) S C 336 rs61748547 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34581 P78363 (ABCA4) W G 339 rs61751420 Disease: Fundus flavimaculat us (FFM) [MIM:248200]
34582 P78363 (ABCA4) Y D 340 rs61748548 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34583 P78363 (ABCA4) N K 380 rs61748549 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34584 P78363 (ABCA4) A V 407 rs61751264 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34585 P78363 (ABCA4) H R 423 rs3112831 Benign
34586 P78363 (ABCA4) S R 445 rs61748552 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34587 P78363 (ABCA4) D E 523 rs62646868 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34588 P78363 (ABCA4) F C 525 - Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34589 P78363 (ABCA4) R C 537 rs61748556 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34590 P78363 (ABCA4) L P 541 rs61751392 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34591 P78363 (ABCA4) A P 549 rs61748557 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34592 P78363 (ABCA4) G R 550 rs61748558 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34593 P78363 (ABCA4) V I 552 rs145525174 Benign
34594 P78363 (ABCA4) R P 572 rs61748559 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34595 P78363 (ABCA4) R Q 572 rs61748559 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34596 P78363 (ABCA4) R Q 602 rs61749410 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34597 P78363 (ABCA4) R W 602 rs61749409 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34598 P78363 (ABCA4) G R 607 rs61749412 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34599 P78363 (ABCA4) G W 607 rs61749412 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34600 P78363 (ABCA4) F I 608 rs61752398 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34601 P78363 (ABCA4) Q K 635 rs61749414 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34602 P78363 (ABCA4) Q H 636 rs61752400 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34603 P78363 (ABCA4) V G 643 rs61754024 Benign
34604 P78363 (ABCA4) V M 643 rs61749417 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34605 P78363 (ABCA4) D N 645 rs61749418 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34606 P78363 (ABCA4) R C 653 rs61749420 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34607 P78363 (ABCA4) L S 686 rs61752402 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34608 P78363 (ABCA4) T M 716 rs61749426 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34609 P78363 (ABCA4) S I 752 rs1801369 Benign
34610 P78363 (ABCA4) A E 762 - Disease: Macular degeneration , age-related, 2 (ARMD2) [MIM:153800]
34611 P78363 (ABCA4) C Y 764 rs61749428 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34612 P78363 (ABCA4) S N 765 rs61749429 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34613 P78363 (ABCA4) S R 765 rs61752404 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34614 P78363 (ABCA4) V D 767 rs61751395 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34615 P78363 (ABCA4) L P 797 rs61749432 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34616 P78363 (ABCA4) G E 818 rs61750202 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34617 P78363 (ABCA4) W R 821 rs61749433 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34618 P78363 (ABCA4) I T 824 - Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34619 P78363 (ABCA4) D H 846 rs61754027 Benign
34620 P78363 (ABCA4) V A 849 rs61749435 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34621 P78363 (ABCA4) G D 851 rs61749436 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34622 P78363 (ABCA4) A T 854 rs61749437 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34623 P78363 (ABCA4) G A 863 rs76157638 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34624 P78363 (ABCA4) F L 873 rs62642570 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34625 P78363 (ABCA4) T I 897 rs61749440 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34626 P78363 (ABCA4) T A 901 rs61754030 Benign
34627 P78363 (ABCA4) H R 914 - Benign
34628 P78363 (ABCA4) V M 931 rs58331765 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34629 P78363 (ABCA4) V A 935 rs61749444 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34630 P78363 (ABCA4) R Q 943 rs1801581 Benign
34631 P78363 (ABCA4) R W 943 rs61749446 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34632 P78363 (ABCA4) Q R 957 rs61749448 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34633 P78363 (ABCA4) T I 959 rs61752409 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34634 P78363 (ABCA4) N S 965 rs201471607 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34635 P78363 (ABCA4) T N 971 rs61749450 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34636 P78363 (ABCA4) S P 974 rs281865400 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34637 P78363 (ABCA4) G C 978 rs61749452 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34638 P78363 (ABCA4) V A 989 rs61749454 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34639 P78363 (ABCA4) G R 991 rs61749455 Disease: Fundus flavimaculat us (FFM) [MIM:248200]
34640 P78363 (ABCA4) L R 1014 rs61749456 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34641 P78363 (ABCA4) T A 1019 rs61749457 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34642 P78363 (ABCA4) T M 1019 rs201855602 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34643 P78363 (ABCA4) E K 1022 rs61749459 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34644 P78363 (ABCA4) K E 1031 rs61750060 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34645 P78363 (ABCA4) E K 1036 rs61750061 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34646 P78363 (ABCA4) A V 1038 rs61751374 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34647 P78363 (ABCA4) R W 1055 rs61752412 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34648 P78363 (ABCA4) S P 1063 rs61752413 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34649 P78363 (ABCA4) S L 1071 rs61750065 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34650 P78363 (ABCA4) V A 1072 - Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34651 P78363 (ABCA4) E D 1087 rs61752416 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34652 P78363 (ABCA4) E K 1087 rs61751398 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34653 P78363 (ABCA4) G E 1091 rs61752417 Disease: Fundus flavimaculat us (FFM) [MIM:248200]
34654 P78363 (ABCA4) R C 1097 - Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34655 P78363 (ABCA4) R C 1108 rs61750120 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34656 P78363 (ABCA4) R H 1108 rs61750121 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34657 P78363 (ABCA4) R L 1108 rs61750121 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34658 P78363 (ABCA4) T N 1112 rs61750122 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34659 P78363 (ABCA4) E K 1122 rs61751399 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34660 P78363 (ABCA4) R C 1129 rs779426136 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34661 P78363 (ABCA4) R L 1129 rs1801269 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34662 P78363 (ABCA4) K T 1148 - Benign
34663 P78363 (ABCA4) L R 1201 rs61750126 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34664 P78363 (ABCA4) D N 1204 rs61750127 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34665 P78363 (ABCA4) L P 1250 rs61750128 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34666 P78363 (ABCA4) R Q 1300 rs61750129 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34667 P78363 (ABCA4) P T 1314 rs61754041 Benign
34668 P78363 (ABCA4) P L 1380 rs61750130 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34669 P78363 (ABCA4) L P 1388 rs61750131 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34670 P78363 (ABCA4) E K 1399 rs62642573 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34671 P78363 (ABCA4) H Y 1406 rs61750133 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34672 P78363 (ABCA4) W L 1408 rs61750134 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34673 P78363 (ABCA4) W R 1408 rs61750135 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34674 P78363 (ABCA4) T M 1428 rs1800549 Benign
34675 P78363 (ABCA4) V A 1429 rs61752432 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34676 P78363 (ABCA4) L P 1430 - Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34677 P78363 (ABCA4) V I 1433 rs56357060 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34678 P78363 (ABCA4) G D 1439 rs61750140 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34679 P78363 (ABCA4) F S 1440 rs61750141 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34680 P78363 (ABCA4) F V 1440 rs61752433 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34681 P78363 (ABCA4) R H 1443 rs61750142 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34682 P78363 (ABCA4) P L 1486 rs61750145 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34683 P78363 (ABCA4) C F 1488 rs61750147 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34684 P78363 (ABCA4) C R 1488 rs61750146 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34685 P78363 (ABCA4) C Y 1488 rs61750147 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34686 P78363 (ABCA4) C Y 1490 rs61751402 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34687 P78363 (ABCA4) G C 1508 - Disease: Fundus flavimaculat us (FFM) [MIM:248200]
34688 P78363 (ABCA4) Q R 1513 rs281865402 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34689 P78363 (ABCA4) R S 1517 rs1800550 Disease: Macular degeneration , age-related, 2 (ARMD2) [MIM:153800]
34690 P78363 (ABCA4) L P 1525 rs61750151 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34691 P78363 (ABCA4) T M 1526 rs61750152 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34692 P78363 (ABCA4) D N 1532 rs62642574 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34693 P78363 (ABCA4) T M 1537 rs62642575 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34694 P78363 (ABCA4) I T 1562 rs1762111 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34695 P78363 (ABCA4) G R 1578 rs1800551 Disease: Macular degeneration , age-related, 2 (ARMD2) [MIM:153800]
34696 P78363 (ABCA4) A D 1598 rs61750155 Disease: Cone-rod dystrophy 3 (CORD3) [MIM:604116]
34697 P78363 (ABCA4) L P 1631 rs61750158 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34698 P78363 (ABCA4) A T 1637 rs61754056 Benign
34699 P78363 (ABCA4) R Q 1640 rs61751403 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34700 P78363 (ABCA4) R W 1640 rs61751404 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34701 P78363 (ABCA4) Y D 1652 rs61750560 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34702 P78363 (ABCA4) S P 1689 rs61753020 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34703 P78363 (ABCA4) V I 1693 rs61750563 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34704 P78363 (ABCA4) S N 1696 rs61750564 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34705 P78363 (ABCA4) Q K 1703 - Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34706 P78363 (ABCA4) R L 1705 rs61753021 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34707 P78363 (ABCA4) W C 1724 - Disease: Macular degeneration , age-related, 2 (ARMD2) [MIM:153800]
34708 P78363 (ABCA4) L P 1729 rs61750567 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34709 P78363 (ABCA4) M T 1733 rs765563320 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34710 P78363 (ABCA4) S P 1736 rs61750568 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34711 P78363 (ABCA4) G R 1748 rs61753025 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34712 P78363 (ABCA4) L P 1763 rs61753028 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34713 P78363 (ABCA4) P L 1776 rs281865404 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34714 P78363 (ABCA4) P A 1780 rs121909207 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34715 P78363 (ABCA4) A D 1794 rs61751406 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34716 P78363 (ABCA4) N D 1799 rs61750574 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34717 P78363 (ABCA4) N D 1805 rs61753029 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34718 P78363 (ABCA4) E D 1817 - Benign
34719 P78363 (ABCA4) R P 1820 rs62646875 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34720 P78363 (ABCA4) H Y 1838 rs62642562 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34721 P78363 (ABCA4) R W 1843 rs62642576 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34722 P78363 (ABCA4) I T 1846 rs61750575 Benign
34723 P78363 (ABCA4) N I 1868 rs1801466 Benign
34724 P78363 (ABCA4) V E 1884 rs62642578 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34725 P78363 (ABCA4) E K 1885 rs62642563 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34726 P78363 (ABCA4) G E 1886 rs62642579 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34727 P78363 (ABCA4) V D 1896 rs61750636 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34728 P78363 (ABCA4) R H 1898 rs1800552 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34729 P78363 (ABCA4) V M 1921 rs61753032 Benign
34730 P78363 (ABCA4) L P 1940 rs61753033 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34731 P78363 (ABCA4) P L 1948 rs56142141 Benign
34732 P78363 (ABCA4) G E 1961 rs1800553 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34733 P78363 (ABCA4) L F 1970 rs28938473 Disease: Macular degeneration , age-related, 2 (ARMD2) [MIM:153800]
34734 P78363 (ABCA4) L R 1971 rs61753034 Disease: Fundus flavimaculat us (FFM) [MIM:248200]
34735 P78363 (ABCA4) G R 1975 rs61753036 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34736 P78363 (ABCA4) G S 1977 rs61750639 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34737 P78363 (ABCA4) L F 2027 rs61751408 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34738 P78363 (ABCA4) R Q 2030 rs61750641 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34739 P78363 (ABCA4) L P 2035 rs61750642 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34740 P78363 (ABCA4) R W 2038 rs61750643 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34741 P78363 (ABCA4) I N 2047 - Disease: Macular degeneration , age-related, 2 (ARMD2) [MIM:153800]
34742 P78363 (ABCA4) V L 2050 rs41292677 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34743 P78363 (ABCA4) G A 2059 - Benign
34744 P78363 (ABCA4) L R 2060 rs61753039 Disease: Cone-rod dystrophy 3 (CORD3) [MIM:604116]
34745 P78363 (ABCA4) Y F 2071 - Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34746 P78363 (ABCA4) R G 2077 rs61750645 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34747 P78363 (ABCA4) R W 2077 rs61750645 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34748 P78363 (ABCA4) E K 2096 rs61750646 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34749 P78363 (ABCA4) R C 2106 rs61750648 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34750 P78363 (ABCA4) R C 2107 rs2297669 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34751 P78363 (ABCA4) R H 2107 rs62642564 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34752 P78363 (ABCA4) H R 2128 rs61750651 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34753 P78363 (ABCA4) E K 2131 rs61750652 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34754 P78363 (ABCA4) C Y 2137 - Disease: Macular degeneration , age-related, 2 (ARMD2) [MIM:153800]
34755 P78363 (ABCA4) R W 2139 rs61750653 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34756 P78363 (ABCA4) G D 2146 rs61753044 Disease: Cone-rod dystrophy 3 (CORD3) [MIM:604116]
34757 P78363 (ABCA4) R L 2149 rs61750655 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34758 P78363 (ABCA4) C R 2150 rs61750656 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34759 P78363 (ABCA4) C Y 2150 rs61751384 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34760 P78363 (ABCA4) K R 2160 rs281865405 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34761 P78363 (ABCA4) D N 2177 rs1800555 Benign
34762 P78363 (ABCA4) A V 2216 rs886044763 Benign
34763 P78363 (ABCA4) L P 2229 rs61750659 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34764 P78363 (ABCA4) L V 2241 rs61748521 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34765 P78363 (ABCA4) S I 2255 rs6666652 Benign
34766 P78363 (ABCA4) R L 2263 rs281865407 Disease: Stargardt disease 1 (STGD1) [MIM:248200]
34767 P78364 (PHC1) T A 693 rs1049925 Benign
34768 P78364 (PHC1) L F 992 rs587777036 Disease: Microcephaly 11, primary, autosomal recessive (MCPH11) [MIM:615414]
34769 P78368 (CSNK1G2) F L 189 rs55702630 Benign
34770 P78368 (CSNK1G2) E G 194 rs55780547 Benign
34771 P78368 (CSNK1G2) I T 196 rs55923222 Benign
34772 P78368 (CSNK1G2) Y C 206 rs56264133 Benign
34773 P78368 (CSNK1G2) Y H 206 rs56108438 Benign
34774 P78368 (CSNK1G2) R S 207 rs56340103 Benign
34775 P78368 (CSNK1G2) E Q 208 rs55818316 Benign
34776 P78368 (CSNK1G2) R C 217 rs55754218 Benign
34777 P78368 (CSNK1G2) T M 223 rs56038081 Benign
34778 P78369 (CLDN10) N K 48 rs759408749 Disease: HELIX syndrome (HELIX) [MIM:617671]
34779 P78369 (CLDN10) S L 131 rs1555299783 Disease: HELIX syndrome (HELIX) [MIM:617671]
34780 P78380 (OLR1) K N 167 rs11053646 Benign
34781 P78381 (SLC35A2) S F 213 rs587777436 Disease: Congenital disorder of glycosylatio n 2M (CDG2M) [MIM:300896]
34782 P78381 (SLC35A2) V I 331 rs587776961 Disease: Congenital disorder of glycosylatio n 2M (CDG2M) [MIM:300896]
34783 P78383 (SLC35B1) R H 81 rs1135034 Benign
34784 P78385 (KRT83) R C 149 rs2857663 Benign
34785 P78385 (KRT83) I M 279 rs2852464 Benign
34786 P78385 (KRT83) E K 407 rs57802288 Disease: Monilethrix (MNLIX) [MIM:158000]
34787 P78385 (KRT83) E K 418 rs1438087533 Disease: Monilethrix (MNLIX) [MIM:158000]
34788 P78385 (KRT83) H Y 493 rs2857671 Benign
34789 P78386 (KRT85) R H 78 rs61630004 Disease: Ectodermal dysplasia 4, hair/nail type (ECTD4) [MIM:602032]
34790 P78386 (KRT85) W L 155 rs2852471 Benign
34791 P78395 (PRAME) W R 7 rs1129172 Benign
34792 P78395 (PRAME) M V 218 rs41277507 Benign
34793 P78410 (BTN3A2) R T 167 rs9379861 Benign
34794 P78410 (BTN3A2) N D 181 rs9358936 Benign
34795 P78410 (BTN3A2) A T 182 rs12205731 Benign
34796 P78410 (BTN3A2) R K 211 rs35183513 Benign
34797 P78410 (BTN3A2) S N 307 rs13216828 Benign
34798 P78411 (IRX5) A P 150 rs387907198 Disease: Hamamy syndrome (HMMS) [MIM:611174]
34799 P78411 (IRX5) N K 166 rs786200931 Disease: Hamamy syndrome (HMMS) [MIM:611174]
34800 P78413 (IRX4) A T 119 rs2232376 Benign
34801 P78415 (IRX3) L P 422 rs1450355 Benign
34802 P78415 (IRX3) Q H 479 rs1126960 Benign
34803 P78417 (GSTO1) C Y 32 rs45529437 Benign
34804 P78417 (GSTO1) S C 86 rs11509436 Benign
34805 P78417 (GSTO1) A D 140 rs4925 Benign
34806 P78417 (GSTO1) E K 208 rs11509438 Benign
34807 P78417 (GSTO1) A V 236 rs11509439 Benign
34808 P78423 (CX3CL1) A V 240 rs35860084 Benign
34809 P78424 (POU6F2) Q H 192 - Disease: Hereditary susceptibili ty to Wilms tumor 5 (WT5) [MIM:601583]
34810 P78424 (POU6F2) P L 199 rs2074936 Benign
34811 P78424 (POU6F2) L M 500 rs4992268 Benign
34812 P78424 (POU6F2) E K 639 rs7804851 Benign
34813 P78504 (JAG1) A V 31 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34814 P78504 (JAG1) G D 33 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34815 P78504 (JAG1) G S 33 rs876661123 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34816 P78504 (JAG1) G V 33 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34817 P78504 (JAG1) L S 37 rs121918352 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34818 P78504 (JAG1) I S 39 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34819 P78504 (JAG1) L P 40 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34820 P78504 (JAG1) V L 45 rs183974372 Benign
34821 P78504 (JAG1) F S 75 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34822 P78504 (JAG1) C S 78 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34823 P78504 (JAG1) L H 79 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34824 P78504 (JAG1) C R 92 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34825 P78504 (JAG1) C Y 92 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34826 P78504 (JAG1) I N 120 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34827 P78504 (JAG1) P S 123 rs1282498658 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34828 P78504 (JAG1) A T 127 rs930247415 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34829 P78504 (JAG1) P R 129 rs1032920906 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34830 P78504 (JAG1) V I 146 rs6040067 Benign
34831 P78504 (JAG1) I T 152 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34832 P78504 (JAG1) A P 155 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34833 P78504 (JAG1) P L 163 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34834 P78504 (JAG1) P R 163 rs1555829676 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34835 P78504 (JAG1) Y N 181 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34836 P78504 (JAG1) R C 184 rs121918350 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34837 P78504 (JAG1) R G 184 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34838 P78504 (JAG1) R H 184 rs121918351 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34839 P78504 (JAG1) R L 184 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34840 P78504 (JAG1) C S 187 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34841 P78504 (JAG1) C Y 187 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34842 P78504 (JAG1) C F 220 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34843 P78504 (JAG1) W C 224 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34844 P78504 (JAG1) C G 229 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34845 P78504 (JAG1) C Y 229 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34846 P78504 (JAG1) C Y 234 rs121918353 Disease: Deafness, congenital heart defects, and posterior embryotoxon (DCHE) [MIM:617992]
34847 P78504 (JAG1) R G 252 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34848 P78504 (JAG1) G S 256 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34849 P78504 (JAG1) P L 269 rs797044956 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34850 P78504 (JAG1) C R 271 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34851 P78504 (JAG1) G D 274 rs28939668 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
34852 P78504 (JAG1) C F 284 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34853 P78504 (JAG1) W C 288 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34854 P78504 (JAG1) G R 386 rs863223650 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34855 P78504 (JAG1) C W 436 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34856 P78504 (JAG1) C F 438 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34857 P78504 (JAG1) N S 504 rs527236046 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34858 P78504 (JAG1) C Y 693 rs566563238 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34859 P78504 (JAG1) C Y 714 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34860 P78504 (JAG1) C S 731 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34861 P78504 (JAG1) C R 740 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34862 P78504 (JAG1) C R 753 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34863 P78504 (JAG1) P L 810 rs769531968 Disease: Tetralogy of Fallot (TOF) [MIM:187500]
34864 P78504 (JAG1) R K 818 - Benign
34865 P78504 (JAG1) P R 871 rs35761929 Benign
34866 P78504 (JAG1) C S 902 rs876661122 Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34867 P78504 (JAG1) C Y 911 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34868 P78504 (JAG1) S R 913 - Disease: Alagille syndrome 1 (ALGS1) [MIM:118450]
34869 P78504 (JAG1) L P 921 rs1305578649 Benign
34870 P78504 (JAG1) R Q 937 rs145895196 Benign
34871 P78504 (JAG1) R Q 1213 rs138007561 Benign
34872 P78508 (KCNJ10) R P 65 rs137853066 Disease: Seizures, sensorineura l deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
34873 P78508 (KCNJ10) L P 68 - Disease: Seizures, sensorineura l deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
34874 P78508 (KCNJ10) G R 77 rs137853072 Disease: Seizures, sensorineura l deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
34875 P78508 (KCNJ10) I V 129 rs751625111 Disease: Seizures, sensorineura l deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
34876 P78508 (KCNJ10) C R 140 rs137853068 Disease: Seizures, sensorineura l deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
34877 P78508 (KCNJ10) T I 164 rs137853069 Disease: Seizures, sensorineura l deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
34878 P78508 (KCNJ10) A V 167 rs137853070 Disease: Seizures, sensorineura l deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
34879 P78508 (KCNJ10) R C 271 rs1130183 Benign
34880 P78508 (KCNJ10) R H 271 rs3795339 Benign
34881 P78508 (KCNJ10) R C 297 rs137853071 Disease: Seizures, sensorineura l deafness, ataxia, mental retardation, and electrolyte imbalance (SESAMES) [MIM:612780]
34882 P78509 (RELN) P L 672 rs201044262 Disease: Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
34883 P78509 (RELN) Y C 723 rs768119894 Disease: Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
34884 P78509 (RELN) D G 763 rs794727998 Disease: Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
34885 P78509 (RELN) H N 798 rs794727996 Disease: Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
34886 P78509 (RELN) P L 844 rs797045000 Disease: Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
34887 P78509 (RELN) T A 978 rs3025962 Benign
34888 P78509 (RELN) L V 997 rs362691 Benign
34889 P78509 (RELN) P R 1703 rs2229860 Benign
34890 P78509 (RELN) G C 2783 rs794727997 Disease: Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
34891 P78509 (RELN) E K 3176 rs794727999 Disease: Epilepsy, familial temporal lobe, 7 (ETL7) [MIM:616436]
34892 P78524 (DENND2B) K N 316 rs3794153 Benign
34893 P78524 (DENND2B) D E 399 rs3812762 Benign
34894 P78524 (DENND2B) I T 620 rs17853683 Benign
34895 P78524 (DENND2B) S F 657 rs11042047 Benign
34896 P78524 (DENND2B) S G 774 rs17853682 Benign
34897 P78527 (PRKDC) A S 6 rs8177999 Benign
34898 P78527 (PRKDC) M I 333 rs8178017 Benign
34899 P78527 (PRKDC) V I 420 rs55925466 Benign
34900 P78527 (PRKDC) T S 605 rs8178033 Benign
34901 P78527 (PRKDC) F L 649 rs55811715 Benign
34902 P78527 (PRKDC) I M 680 rs8178040 Benign
34903 P78527 (PRKDC) P S 695 rs8178046 Benign
34904 P78527 (PRKDC) N S 1071 rs8178070 Benign
34905 P78527 (PRKDC) L V 1190 rs34598508 Benign
34906 P78527 (PRKDC) A T 1237 rs191531119 Benign
34907 P78527 (PRKDC) L F 1279 - Benign
34908 P78527 (PRKDC) G V 1314 rs8178090 Benign
34909 P78527 (PRKDC) D V 1588 rs8178104 Benign
34910 P78527 (PRKDC) Q H 1603 rs8178106 Benign
34911 P78527 (PRKDC) A G 1619 rs56182356 Benign
34912 P78527 (PRKDC) S P 2023 rs56042895 Benign
34913 P78527 (PRKDC) A V 2095 rs8178147 Benign
34914 P78527 (PRKDC) R Q 2598 rs55923149 Benign
34915 P78527 (PRKDC) K E 2702 rs8178178 Benign
34916 P78527 (PRKDC) R C 2899 rs4278157 Benign
34917 P78527 (PRKDC) L R 3062 rs587777685 Disease: Immunodefici ency 26 with or without neurologic abnormalitie s (IMD26) [MIM:615966]
34918 P78527 (PRKDC) E D 3085 rs56135402 Benign
34919 P78527 (PRKDC) G D 3149 rs8178208 Benign
34920 P78527 (PRKDC) T S 3198 rs55793951 Benign
34921 P78527 (PRKDC) P S 3201 rs8178216 Benign
34922 P78527 (PRKDC) G E 3404 rs8178225 Benign
34923 P78527 (PRKDC) I T 3434 rs7830743 Benign
34924 P78527 (PRKDC) N S 3459 rs8178228 Benign
34925 P78527 (PRKDC) L M 3562 rs8178232 Benign
34926 P78527 (PRKDC) A V 3574 rs587777686 Disease: Immunodefici ency 26 with or without neurologic abnormalitie s (IMD26) [MIM:615966]
34927 P78527 (PRKDC) L F 3584 rs55866966 Benign
34928 P78527 (PRKDC) P L 3702 rs8178236 Benign
34929 P78527 (PRKDC) L I 3800 rs56216442 Benign
34930 P78527 (PRKDC) P L 3836 rs8178245 Benign
34931 P78527 (PRKDC) M V 3932 rs8178248 Benign
34932 P78527 (PRKDC) G S 3936 rs55670423 Benign
34933 P78527 (PRKDC) V M 3937 rs56090750 Benign
34934 P78536 (ADAM17) K E 162 rs34431503 Benign
34935 P78536 (ADAM17) R G 202 rs2230818 Benign
34936 P78539 (SRPX) P S 225 rs1123773 Benign
34937 P78539 (SRPX) S F 413 rs35318931 Benign
34938 P78540 (ARG2) G R 240 rs17104534 Benign
34939 P78543 (BTG2) V M 153 rs12039961 Benign
34940 P78545 (ELF3) Q K 317 rs1135542 Benign
34941 P78549 (NTHL1) R W 21 rs3087469 Benign
34942 P78549 (NTHL1) R K 33 rs2302172 Benign
34943 P78549 (NTHL1) I T 176 rs1805378 Benign
34944 P78549 (NTHL1) S L 234 rs3211977 Benign
34945 P78549 (NTHL1) D Y 239 rs3087468 Benign
34946 P78556 (CCL20) V M 47 rs1049617 Benign
34947 P78559 (MAP1A) F L 72 rs2584695 Benign
34948 P78559 (MAP1A) A S 335 rs1060935 Benign
34949 P78559 (MAP1A) K T 336 rs1060936 Benign
34950 P78559 (MAP1A) A S 353 rs1060937 Benign
34951 P78559 (MAP1A) A S 357 rs1060938 Benign
34952 P78559 (MAP1A) K Q 364 rs2602129 Benign
34953 P78559 (MAP1A) K Q 485 rs2584715 Benign
34954 P78559 (MAP1A) T A 830 rs3803337 Benign
34955 P78559 (MAP1A) N S 1078 rs8034794 Benign
34956 P78559 (MAP1A) I T 1102 rs8036179 Benign
34957 P78559 (MAP1A) R H 1185 rs3803335 Benign
34958 P78559 (MAP1A) D N 1245 rs12912505 Benign
34959 P78559 (MAP1A) D N 1461 rs2245715 Benign
34960 P78559 (MAP1A) Q H 1553 rs2584717 Benign
34961 P78559 (MAP1A) K N 1605 rs2584697 Benign
34962 P78559 (MAP1A) W C 1650 rs1060943 Benign
34963 P78559 (MAP1A) A S 1690 rs1060946 Benign
34964 P78559 (MAP1A) P A 1827 rs2229014 Benign
34965 P78559 (MAP1A) A P 1881 rs1060950 Benign
34966 P78559 (MAP1A) A V 1912 rs2584718 Benign
34967 P78559 (MAP1A) S R 1938 rs2584719 Benign
34968 P78559 (MAP1A) S R 2056 rs1060953 Benign
34969 P78559 (MAP1A) H Y 2214 rs1060955 Benign
34970 P78559 (MAP1A) D V 2327 rs8026745 Benign
34971 P78559 (MAP1A) T I 2405 rs8027254 Benign
34972 P78559 (MAP1A) I T 2461 rs8028849 Benign
34973 P78559 (MAP1A) D N 2465 rs8027916 Benign
34974 P78560 (CRADD) G R 128 rs387906861 Disease: Mental retardation, autosomal recessive 34, with variant lissencephal y (MRT34) [MIM:614499]
34975 P78562 (PHEX) C S 77 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34976 P78562 (PHEX) F S 80 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34977 P78562 (PHEX) C F 85 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34978 P78562 (PHEX) C R 85 rs1556014287 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34979 P78562 (PHEX) C Y 85 rs137853269 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34980 P78562 (PHEX) L P 138 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34981 P78562 (PHEX) S P 141 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34982 P78562 (PHEX) C F 142 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34983 P78562 (PHEX) L R 160 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34984 P78562 (PHEX) R C 166 rs751230094 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34985 P78562 (PHEX) D G 237 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34986 P78562 (PHEX) F S 252 rs267606945 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34987 P78562 (PHEX) M I 253 rs267606946 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34988 P78562 (PHEX) Y F 317 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34989 P78562 (PHEX) W C 530 rs1556091855 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34990 P78562 (PHEX) P L 534 rs886041363 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34991 P78562 (PHEX) L P 555 rs137853270 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34992 P78562 (PHEX) R P 567 rs760870713 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34993 P78562 (PHEX) A D 573 rs1556135308 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34994 P78562 (PHEX) G R 579 rs875989883 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34995 P78562 (PHEX) G V 579 rs1057517980 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34996 P78562 (PHEX) Q R 621 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34997 P78562 (PHEX) R P 651 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34998 P78562 (PHEX) N K 680 rs1556151526 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
34999 P78562 (PHEX) C Y 693 rs1556200989 Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]
35000 P78562 (PHEX) A T 720 - Disease: Hypophosphat emic rickets, X-linked dominant (XLHR) [MIM:307800]

Reference

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

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