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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]
40001 Q14240 (EIF4A2) Q H 93 rs11538616 Benign
40002 Q14241 (ELOA) T M 145 rs2235541 Benign
40003 Q14241 (ELOA) V I 324 rs520713 Benign
40004 Q14241 (ELOA) A V 516 rs550252 Benign
40005 Q14242 (SELPLG) M I 62 rs2228315 Benign
40006 Q14242 (SELPLG) P S 246 rs8179142 Benign
40007 Q14242 (SELPLG) T M 249 rs756234416 Benign
40008 Q14244 (MAP7) V I 361 rs35350783 Benign
40009 Q14244 (MAP7) R P 526 rs35107962 Benign
40010 Q14244 (MAP7) R W 558 rs2076190 Benign
40011 Q14246 (ADGRE1) R L 2 rs34176643 Benign
40012 Q14246 (ADGRE1) A T 57 rs330877 Benign
40013 Q14246 (ADGRE1) S R 140 rs330880 Benign
40014 Q14246 (ADGRE1) D N 174 rs897738 Benign
40015 Q14246 (ADGRE1) N S 254 rs443658 Benign
40016 Q14246 (ADGRE1) A V 298 rs370094 Benign
40017 Q14246 (ADGRE1) T M 389 rs466876 Benign
40018 Q14246 (ADGRE1) I V 424 rs457857 Benign
40019 Q14246 (ADGRE1) K Q 496 rs373533 Benign
40020 Q14246 (ADGRE1) I V 539 rs461645 Benign
40021 Q14246 (ADGRE1) V I 589 rs7256147 Benign
40022 Q14246 (ADGRE1) M T 663 rs2228539 Benign
40023 Q14246 (ADGRE1) F C 691 rs2229769 Benign
40024 Q14246 (ADGRE1) V L 724 rs10406580 Benign
40025 Q14249 (ENDOG) S L 12 rs2293969 Benign
40026 Q14254 (FLOT2) A T 328 rs3736238 Benign
40027 Q14258 (TRIM25) V G 89 rs7212260 Benign
40028 Q14258 (TRIM25) P L 358 rs205498 Benign
40029 Q14264 (ERV3-1) T I 90 rs6460219 Benign
40030 Q14264 (ERV3-1) C Y 192 rs34639489 Benign
40031 Q14264 (ERV3-1) Y C 236 rs71539632 Benign
40032 Q14264 (ERV3-1) N S 481 rs4618579 Benign
40033 Q14264 (ERV3-1) L P 522 rs1406592674 Benign
40034 Q14264 (ERV3-1) N S 569 rs4717229 Benign
40035 Q14289 (PTK2B) Q E 359 rs56175011 Benign
40036 Q14289 (PTK2B) R H 698 rs35174236 Benign
40037 Q14289 (PTK2B) L P 808 rs55747955 Benign
40038 Q14289 (PTK2B) K T 838 rs751019 Benign
40039 Q14289 (PTK2B) E K 970 rs56263944 Benign
40040 Q14296 (FASTK) A V 436 rs2288648 Benign
40041 Q14314 (FGL2) G E 53 rs2075761 Benign
40042 Q14315 (FLNC) V A 123 - Disease: Cardiomyopat hy, familial hypertrophic 26 (CMH26) [MIM:617047]
40043 Q14315 (FLNC) A T 193 rs387906587 Disease: Myopathy, distal, 4 (MPD4) [MIM:614065]
40044 Q14315 (FLNC) M T 251 rs387906586 Disease: Myopathy, distal, 4 (MPD4) [MIM:614065]
40045 Q14315 (FLNC) A T 1539 - Disease: Cardiomyopat hy, familial hypertrophic 26 (CMH26) [MIM:617047]
40046 Q14315 (FLNC) R Q 1567 rs2291569 Benign
40047 Q14315 (FLNC) D G 1580 rs2643766 Benign
40048 Q14315 (FLNC) T A 1599 rs2643767 Benign
40049 Q14315 (FLNC) S L 1624 rs879255639 Disease: Cardiomyopat hy, familial restrictive 5 (RCM5) [MIM:617047]
40050 Q14315 (FLNC) R H 2133 - Disease: Cardiomyopat hy, familial hypertrophic 26 (CMH26) [MIM:617047]
40051 Q14315 (FLNC) K R 2135 rs1063261 Benign
40052 Q14315 (FLNC) I F 2160 rs879255640 Disease: Cardiomyopat hy, familial restrictive 5 (RCM5) [MIM:617047]
40053 Q14315 (FLNC) R P 2203 rs1063262 Benign
40054 Q14315 (FLNC) S N 2626 rs2639142 Benign
40055 Q14315 (FLNC) K Q 2637 rs2291572 Benign
40056 Q14318 (FKBP8) A V 87 rs11574806 Benign
40057 Q14324 (MYBPC2) E K 29 rs57092106 Benign
40058 Q14324 (MYBPC2) G S 52 rs25669 Benign
40059 Q14324 (MYBPC2) D N 282 rs35951152 Benign
40060 Q14324 (MYBPC2) V I 341 rs58511181 Benign
40061 Q14324 (MYBPC2) G S 514 rs8104931 Benign
40062 Q14324 (MYBPC2) V I 624 rs25665 Benign
40063 Q14324 (MYBPC2) R H 1089 rs25667 Benign
40064 Q14331 (FRG1) T A 19 rs17797703 Benign
40065 Q14332 (FZD2) G S 434 - Disease: -
40066 Q14332 (FZD2) G V 434 rs1555657073 Disease: Omodysplasia 2 (OMOD2) [MIM:164745]
40067 Q14344 (GNA13) V L 221 rs1062597 Benign
40068 Q14353 (GAMT) P T 8 rs776498025 Benign
40069 Q14353 (GAMT) W S 20 rs80338734 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40070 Q14353 (GAMT) Y H 27 rs200833152 Benign
40071 Q14353 (GAMT) R L 44 rs200339910 Benign
40072 Q14353 (GAMT) W R 45 rs886054247 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40073 Q14353 (GAMT) M L 50 rs104894694 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40074 Q14353 (GAMT) H P 51 - Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40075 Q14353 (GAMT) A P 54 rs1220169908 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40076 Q14353 (GAMT) G C 68 rs1447665588 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40077 Q14353 (GAMT) M V 71 rs372027428 Benign
40078 Q14353 (GAMT) A V 75 rs1441030187 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40079 Q14353 (GAMT) S L 76 rs150338273 Benign
40080 Q14353 (GAMT) V M 78 rs141358977 Benign
40081 Q14353 (GAMT) V E 78 - Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40082 Q14353 (GAMT) V I 95 rs140778208 Benign
40083 Q14353 (GAMT) R Q 105 rs148838075 Benign
40084 Q14353 (GAMT) Q P 106 rs145817990 Benign
40085 Q14353 (GAMT) V F 110 rs753198836 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40086 Q14353 (GAMT) D N 135 rs774144200 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40087 Q14353 (GAMT) T R 146 rs149821870 Benign
40088 Q14353 (GAMT) H Y 147 rs1371496558 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40089 Q14353 (GAMT) A D 156 rs368221789 Benign
40090 Q14353 (GAMT) F L 157 rs372260609 Benign
40091 Q14353 (GAMT) L P 159 - Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40092 Q14353 (GAMT) G D 164 rs760101382 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40093 Q14353 (GAMT) L P 166 rs1483148182 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40094 Q14353 (GAMT) T I 167 rs374762419 Benign
40095 Q14353 (GAMT) C R 169 - Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40096 Q14353 (GAMT) C Y 169 rs121909272 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40097 Q14353 (GAMT) A T 196 rs1355291180 Benign
40098 Q14353 (GAMT) A V 196 rs565109128 Benign
40099 Q14353 (GAMT) L P 197 - Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40100 Q14353 (GAMT) R P 208 rs767887772 Disease: Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
40101 Q14353 (GAMT) T M 209 rs17851582 Benign
40102 Q14353 (GAMT) A T 224 rs141471799 Benign
40103 Q14376 (GALE) A V 25 rs1431772923 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40104 Q14376 (GALE) N S 34 rs121908046 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40105 Q14376 (GALE) R C 40 rs144492228 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40106 Q14376 (GALE) D E 69 rs1261697960 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40107 Q14376 (GALE) G E 90 rs28940882 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40108 Q14376 (GALE) V M 94 rs121908047 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40109 Q14376 (GALE) D G 103 rs28940883 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40110 Q14376 (GALE) E K 165 rs528467258 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40111 Q14376 (GALE) R W 169 rs137853859 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40112 Q14376 (GALE) A V 180 rs3204468 Benign
40113 Q14376 (GALE) L P 183 rs121908045 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40114 Q14376 (GALE) R W 239 rs137853860 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40115 Q14376 (GALE) K R 257 rs28940884 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40116 Q14376 (GALE) G D 302 rs137853861 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40117 Q14376 (GALE) L M 313 rs3180383 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40118 Q14376 (GALE) G E 319 rs28940885 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40119 Q14376 (GALE) R H 335 rs368637540 Disease: Epimerase- deficiency galactosemia (EDG) [MIM:230350]
40120 Q14390 (GGTLC2) E G 70 rs2904923 Benign
40121 Q14390 (GGTLC2) D N 75 rs2330126 Benign
40122 Q14392 (LRRC32) L V 223 rs35033061 Benign
40123 Q14392 (LRRC32) G A 311 rs35130967 Benign
40124 Q14393 (GAS6) F L 41 rs201378406 Benign
40125 Q14393 (GAS6) S Y 231 rs146159446 Benign
40126 Q14393 (GAS6) V M 347 rs144457857 Benign
40127 Q14393 (GAS6) G R 500 rs7992146 Benign
40128 Q14393 (GAS6) S L 580 rs79807310 Benign
40129 Q14393 (GAS6) E K 612 rs73583241 Benign
40130 Q14393 (GAS6) R Q 616 rs199700915 Benign
40131 Q14397 (GCKR) E G 77 rs8179206 Benign
40132 Q14397 (GCKR) G S 256 rs8179212 Benign
40133 Q14397 (GCKR) P L 446 rs1260326 Benign
40134 Q14397 (GCKR) R Q 540 rs8179249 Benign
40135 Q14406 (CSHL1) D E 141 rs2727307 Benign
40136 Q14432 (PDE3A) D N 12 rs12305038 Benign
40137 Q14432 (PDE3A) T A 445 rs794726865 Disease: Hypertension and brachydactyl y syndrome (HTNB) [MIM:112410]
40138 Q14432 (PDE3A) T N 445 rs794726864 Disease: Hypertension and brachydactyl y syndrome (HTNB) [MIM:112410]
40139 Q14432 (PDE3A) T S 445 rs794726864 Disease: Hypertension and brachydactyl y syndrome (HTNB) [MIM:112410]
40140 Q14432 (PDE3A) A T 447 rs794726866 Disease: Hypertension and brachydactyl y syndrome (HTNB) [MIM:112410]
40141 Q14432 (PDE3A) A V 447 rs794726867 Disease: Hypertension and brachydactyl y syndrome (HTNB) [MIM:112410]
40142 Q14432 (PDE3A) G V 449 rs794726868 Disease: Hypertension and brachydactyl y syndrome (HTNB) [MIM:112410]
40143 Q14442 (PIGH) S P 103 rs776038451 Disease: Glycosylphos phatidylinos itol biosynthesis defect 17 (GPIBD17) [MIM:618010]
40144 Q14444 (CAPRIN1) A D 263 rs1132973 Benign
40145 Q14444 (CAPRIN1) Q H 588 rs12282627 Benign
40146 Q14444 (CAPRIN1) R H 616 rs11552285 Benign
40147 Q14449 (GRB14) F I 90 rs61748245 Benign
40148 Q14449 (GRB14) H Y 507 rs144301087 Benign
40149 Q14457 (BECN1) A V 103 - Benign
40150 Q14457 (BECN1) I T 403 - Benign
40151 Q14494 (NFE2L1) D H 63 rs2229367 Benign
40152 Q14498 (RBM39) A V 2 rs1803701 Benign
40153 Q14500 (KCNJ12) R Q 6 rs3752032 Benign
40154 Q14500 (KCNJ12) S L 15 rs1657738 Benign
40155 Q14500 (KCNJ12) I V 100 rs8076599 Benign
40156 Q14500 (KCNJ12) R Q 118 rs1657740 Benign
40157 Q14500 (KCNJ12) P L 156 rs1714864 Benign
40158 Q14500 (KCNJ12) Q H 192 rs1657742 Benign
40159 Q14500 (KCNJ12) I V 249 rs4985866 Benign
40160 Q14500 (KCNJ12) E G 430 rs5021699 Benign
40161 Q14507 (EDDM3A) G C 62 rs34552133 Benign
40162 Q14511 (NEDD9) D N 178 rs11546959 Benign
40163 Q14511 (NEDD9) P L 304 rs34184473 Benign
40164 Q14511 (NEDD9) T M 577 rs3734401 Benign
40165 Q14515 (SPARCL1) A D 49 rs13051 Benign
40166 Q14515 (SPARCL1) H D 106 rs1049544 Benign
40167 Q14515 (SPARCL1) T A 419 rs1130643 Benign
40168 Q14517 (FAT1) A V 131 rs3733415 Benign
40169 Q14517 (FAT1) R S 902 rs555992573 Benign
40170 Q14517 (FAT1) N S 1330 rs874111 Benign
40171 Q14517 (FAT1) I V 1393 rs753226094 Benign
40172 Q14517 (FAT1) A T 1564 rs2304867 Benign
40173 Q14517 (FAT1) N D 1605 rs6836935 Benign
40174 Q14517 (FAT1) N S 3732 rs373241719 Benign
40175 Q14517 (FAT1) P H 3800 rs11731738 Benign
40176 Q14520 (HABP2) V I 90 rs11575750 Benign
40177 Q14520 (HABP2) E Q 393 rs11575688 Benign
40178 Q14520 (HABP2) G E 534 rs7080536 Disease: Thyroid cancer, non- medullary, 5 (NMTC5) [MIM:616535]
40179 Q14524 (SCN5A) G V 9 rs199473043 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40180 Q14524 (SCN5A) R H 27 rs199473045 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40181 Q14524 (SCN5A) R C 34 rs6791924 Benign
40182 Q14524 (SCN5A) R H 34 rs199473046 Benign
40183 Q14524 (SCN5A) R Q 43 rs199473047 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40184 Q14524 (SCN5A) V I 95 rs199473054 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40185 Q14524 (SCN5A) V L 125 rs199473059 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40186 Q14524 (SCN5A) K E 126 rs185492581 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40187 Q14524 (SCN5A) M I 138 rs199473060 Disease: Atrial fibrillation , familial, 10 (ATFB10) [MIM:614022]
40188 Q14524 (SCN5A) E K 161 rs199473062 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40189 Q14524 (SCN5A) T I 187 rs199473558 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40190 Q14524 (SCN5A) L P 212 rs199473070 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40191 Q14524 (SCN5A) T I 220 rs45620037 Disease: Sick sinus syndrome 1 (SSS1) [MIM:608567]
40192 Q14524 (SCN5A) R Q 222 rs45546039 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40193 Q14524 (SCN5A) R Q 225 rs199473071 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40194 Q14524 (SCN5A) R W 225 rs199473072 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40195 Q14524 (SCN5A) A V 226 rs199473561 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40196 Q14524 (SCN5A) I V 230 rs199473074 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40197 Q14524 (SCN5A) V M 240 rs199473076 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40198 Q14524 (SCN5A) Q K 245 rs199473077 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40199 Q14524 (SCN5A) R H 282 rs199473083 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40200 Q14524 (SCN5A) A S 286 rs61746118 Benign
40201 Q14524 (SCN5A) N S 291 rs199473563 Benign
40202 Q14524 (SCN5A) V M 294 rs199473086 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40203 Q14524 (SCN5A) G S 298 rs137854608 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40204 Q14524 (SCN5A) L M 299 rs199473087 Benign
40205 Q14524 (SCN5A) G S 319 rs199473090 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40206 Q14524 (SCN5A) P L 336 rs199473093 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40207 Q14524 (SCN5A) G V 351 rs199473095 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40208 Q14524 (SCN5A) T I 353 rs199473096 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40209 Q14524 (SCN5A) D N 356 rs199473565 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40210 Q14524 (SCN5A) R C 367 rs199473097 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40211 Q14524 (SCN5A) R H 367 rs28937318 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40212 Q14524 (SCN5A) M K 369 rs199473098 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40213 Q14524 (SCN5A) R C 376 rs199473100 Benign
40214 Q14524 (SCN5A) L Q 404 rs199473107 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40215 Q14524 (SCN5A) N K 406 rs199473108 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40216 Q14524 (SCN5A) N S 406 rs199473568 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40217 Q14524 (SCN5A) V M 411 rs72549410 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40218 Q14524 (SCN5A) E K 428 rs199473111 Disease: Atrial fibrillation , familial, 10 (ATFB10) [MIM:614022]
40219 Q14524 (SCN5A) H D 445 rs199473112 Disease: Atrial fibrillation , familial, 10 (ATFB10) [MIM:614022]
40220 Q14524 (SCN5A) A G 447 rs199473113 Benign
40221 Q14524 (SCN5A) T A 449 rs199473571 Benign
40222 Q14524 (SCN5A) L V 461 rs41313697 Benign
40223 Q14524 (SCN5A) E K 462 rs199473572 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40224 Q14524 (SCN5A) N K 470 rs199473115 Disease: Atrial fibrillation , familial, 10 (ATFB10) [MIM:614022]
40225 Q14524 (SCN5A) R S 475 rs199473116 Benign
40226 Q14524 (SCN5A) R W 481 rs144511230 Benign
40227 Q14524 (SCN5A) T I 512 rs199473118 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40228 Q14524 (SCN5A) G C 514 rs137854606 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40229 Q14524 (SCN5A) S Y 524 rs41313691 Benign
40230 Q14524 (SCN5A) F C 532 rs199473573 Disease: Sudden infant death syndrome (SIDS) [MIM:272120]
40231 Q14524 (SCN5A) G R 552 rs3918389 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40232 Q14524 (SCN5A) H R 558 rs1805124 Benign
40233 Q14524 (SCN5A) L Q 567 rs199473124 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40234 Q14524 (SCN5A) R H 568 rs199473125 Benign
40235 Q14524 (SCN5A) A D 572 rs36210423 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40236 Q14524 (SCN5A) N K 592 rs199473130 Benign
40237 Q14524 (SCN5A) D G 596 rs199473131 Benign
40238 Q14524 (SCN5A) V A 601 rs199473132 Benign
40239 Q14524 (SCN5A) G E 615 rs12720452 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40240 Q14524 (SCN5A) L F 619 rs199473133 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40241 Q14524 (SCN5A) P L 637 rs199473135 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40242 Q14524 (SCN5A) G D 638 rs199473578 Benign
40243 Q14524 (SCN5A) G R 639 rs199473136 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40244 Q14524 (SCN5A) P L 648 rs45609733 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40245 Q14524 (SCN5A) E K 655 rs199473579 Disease: Atrial fibrillation , familial, 10 (ATFB10) [MIM:614022]
40246 Q14524 (SCN5A) P L 656 rs41313681 Benign
40247 Q14524 (SCN5A) A T 672 rs199473140 Benign
40248 Q14524 (SCN5A) R H 680 rs199473142 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40249 Q14524 (SCN5A) H P 681 rs199473143 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40250 Q14524 (SCN5A) Q K 692 rs45553235 Benign
40251 Q14524 (SCN5A) P L 701 rs199473147 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40252 Q14524 (SCN5A) S F 705 rs199473148 Benign
40253 Q14524 (SCN5A) A E 735 rs137854611 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40254 Q14524 (SCN5A) A V 735 rs137854611 Disease: Sick sinus syndrome 1 (SSS1) [MIM:608567]
40255 Q14524 (SCN5A) G R 752 rs199473153 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40256 Q14524 (SCN5A) D N 772 rs199473157 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40257 Q14524 (SCN5A) L Q 812 - Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40258 Q14524 (SCN5A) R Q 814 rs199473584 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40259 Q14524 (SCN5A) K E 817 - Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40260 Q14524 (SCN5A) F L 851 rs199473586 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40261 Q14524 (SCN5A) R C 878 rs199473168 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40262 Q14524 (SCN5A) F I 892 rs199473170 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40263 Q14524 (SCN5A) C S 896 rs199473173 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40264 Q14524 (SCN5A) S L 910 rs199473175 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40265 Q14524 (SCN5A) V I 924 rs199473177 Benign
40266 Q14524 (SCN5A) S N 941 rs137854605 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40267 Q14524 (SCN5A) R C 965 rs199473180 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40268 Q14524 (SCN5A) R C 971 rs61737825 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40269 Q14524 (SCN5A) R Q 986 rs41313667 Benign
40270 Q14524 (SCN5A) A S 997 rs137854609 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40271 Q14524 (SCN5A) T M 1016 rs199473185 Benign
40272 Q14524 (SCN5A) R H 1023 rs199473592 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40273 Q14524 (SCN5A) R Q 1027 rs763891399 Benign
40274 Q14524 (SCN5A) G R 1040 rs199473186 Benign
40275 Q14524 (SCN5A) D N 1041 rs45491996 Benign
40276 Q14524 (SCN5A) E K 1053 rs137854617 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40277 Q14524 (SCN5A) T M 1069 rs199473187 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40278 Q14524 (SCN5A) V A 1082 rs199473189 Benign
40279 Q14524 (SCN5A) G S 1084 rs199473190 Disease: Sudden infant death syndrome (SIDS) [MIM:272120]
40280 Q14524 (SCN5A) P L 1090 rs1805125 Benign
40281 Q14524 (SCN5A) V L 1098 rs199473191 Benign
40282 Q14524 (SCN5A) S Y 1103 rs7626962 Benign
40283 Q14524 (SCN5A) E K 1107 rs199473193 Benign
40284 Q14524 (SCN5A) D N 1114 rs199473195 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40285 Q14524 (SCN5A) R W 1116 rs199473196 Benign
40286 Q14524 (SCN5A) T I 1131 rs199473197 Disease: Atrial fibrillation , familial, 10 (ATFB10) [MIM:614022]
40287 Q14524 (SCN5A) A V 1180 rs41310765 Benign
40288 Q14524 (SCN5A) R Q 1193 rs41261344 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40289 Q14524 (SCN5A) E K 1225 rs199473204 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40290 Q14524 (SCN5A) E K 1231 rs199473598 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40291 Q14524 (SCN5A) R W 1232 rs199473207 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40292 Q14524 (SCN5A) K N 1236 rs199473208 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40293 Q14524 (SCN5A) E Q 1240 rs199473211 Benign
40294 Q14524 (SCN5A) F L 1250 rs45589741 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40295 Q14524 (SCN5A) V M 1251 rs199473600 Benign
40296 Q14524 (SCN5A) D N 1275 rs137854618 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40297 Q14524 (SCN5A) E K 1295 rs199473218 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40298 Q14524 (SCN5A) P L 1298 rs28937319 Disease: Sick sinus syndrome 1 (SSS1) [MIM:608567]
40299 Q14524 (SCN5A) T M 1304 rs199473603 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40300 Q14524 (SCN5A) L F 1308 rs41313031 Benign
40301 Q14524 (SCN5A) G V 1319 rs199473220 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40302 Q14524 (SCN5A) N S 1325 rs28937317 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40303 Q14524 (SCN5A) A P 1330 rs199473224 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40304 Q14524 (SCN5A) A T 1330 rs199473224 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40305 Q14524 (SCN5A) S Y 1333 rs199473604 Disease: Sudden infant death syndrome (SIDS) [MIM:272120]
40306 Q14524 (SCN5A) F S 1344 rs199473229 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40307 Q14524 (SCN5A) S I 1382 rs199473608 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40308 Q14524 (SCN5A) V L 1405 rs199473239 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40309 Q14524 (SCN5A) G R 1406 rs199473240 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40310 Q14524 (SCN5A) G R 1408 rs137854612 Disease: Sick sinus syndrome 1 (SSS1) [MIM:608567]
40311 Q14524 (SCN5A) R S 1432 rs199473246 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40312 Q14524 (SCN5A) S Y 1458 rs199473253 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40313 Q14524 (SCN5A) F C 1473 rs199473256 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40314 Q14524 (SCN5A) G E 1481 rs199473257 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40315 Q14524 (SCN5A) F L 1486 rs199473615 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40316 Q14524 (SCN5A) Y N 1494 rs199473261 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40317 Q14524 (SCN5A) K N 1500 rs199473265 Benign
40318 Q14524 (SCN5A) L V 1501 rs199473266 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40319 Q14524 (SCN5A) G S 1502 rs199473267 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40320 Q14524 (SCN5A) R W 1512 rs137854602 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40321 Q14524 (SCN5A) K R 1527 rs199473270 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40322 Q14524 (SCN5A) A P 1569 rs199473273 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40323 Q14524 (SCN5A) D N 1595 rs137854607 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40324 Q14524 (SCN5A) S W 1609 rs199473622 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40325 Q14524 (SCN5A) T K 1620 rs199473282 Disease: Progressive familial heart block 1A (PFHB1A) [MIM:113900]
40326 Q14524 (SCN5A) T M 1620 rs199473282 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40327 Q14524 (SCN5A) R L 1623 rs137854600 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40328 Q14524 (SCN5A) R Q 1623 rs137854600 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40329 Q14524 (SCN5A) R Q 1629 rs199473623 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40330 Q14524 (SCN5A) R C 1644 rs199473287 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40331 Q14524 (SCN5A) R H 1644 rs28937316 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40332 Q14524 (SCN5A) T M 1645 rs199473288 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40333 Q14524 (SCN5A) A V 1649 rs199473289 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40334 Q14524 (SCN5A) M R 1652 rs199473291 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40335 Q14524 (SCN5A) I V 1660 rs199473625 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40336 Q14524 (SCN5A) V I 1667 rs199473293 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40337 Q14524 (SCN5A) D N 1690 rs1060499900 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40338 Q14524 (SCN5A) F S 1705 rs199473627 Disease: Sudden infant death syndrome (SIDS) [MIM:272120]
40339 Q14524 (SCN5A) S L 1710 rs137854604 Disease: Familial paroxysmal ventricular fibrillation 1 (VF1) [MIM:603829]
40340 Q14524 (SCN5A) D G 1714 rs199473628 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40341 Q14524 (SCN5A) G R 1740 rs199473304 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40342 Q14524 (SCN5A) G E 1743 rs199473629 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40343 Q14524 (SCN5A) G R 1743 rs199473305 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40344 Q14524 (SCN5A) G D 1748 - Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40345 Q14524 (SCN5A) V M 1763 rs199473631 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40346 Q14524 (SCN5A) M L 1766 rs199473310 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40347 Q14524 (SCN5A) I V 1768 rs199473311 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40348 Q14524 (SCN5A) V M 1777 rs199473314 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40349 Q14524 (SCN5A) T M 1779 rs199473634 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40350 Q14524 (SCN5A) E K 1784 rs137854601 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40351 Q14524 (SCN5A) S N 1787 rs199473316 Benign
40352 Q14524 (SCN5A) D G 1790 rs199473317 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40353 Q14524 (SCN5A) D N 1792 rs727504495 Disease: Sick sinus syndrome 1 (SSS1) [MIM:608567]
40354 Q14524 (SCN5A) Y C 1795 rs137854614 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40355 Q14524 (SCN5A) Y H 1795 rs137854615 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40356 Q14524 (SCN5A) D N 1819 rs137854619 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40357 Q14524 (SCN5A) L P 1825 rs79299226 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40358 Q14524 (SCN5A) R C 1826 rs199473635 Disease: Atrial fibrillation , familial, 10 (ATFB10) [MIM:614022]
40359 Q14524 (SCN5A) R H 1826 rs137854610 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40360 Q14524 (SCN5A) I T 1836 rs45563942 Benign
40361 Q14524 (SCN5A) D G 1839 rs199473321 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40362 Q14524 (SCN5A) H R 1849 rs794728898 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40363 Q14524 (SCN5A) C S 1850 rs199473322 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40364 Q14524 (SCN5A) M T 1875 rs199473324 Benign
40365 Q14524 (SCN5A) E K 1901 rs199473325 Benign
40366 Q14524 (SCN5A) S L 1904 rs150264233 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40367 Q14524 (SCN5A) Q R 1909 rs199473326 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40368 Q14524 (SCN5A) R C 1919 rs199473328 Benign
40369 Q14524 (SCN5A) A T 1924 rs137854603 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40370 Q14524 (SCN5A) A S 1949 rs199473330 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40371 Q14524 (SCN5A) V M 1951 rs41315493 Disease: Atrial fibrillation , familial, 10 (ATFB10) [MIM:614022]
40372 Q14524 (SCN5A) P L 1962 rs199473638 Benign
40373 Q14524 (SCN5A) I M 1968 rs199473333 Benign
40374 Q14524 (SCN5A) I S 1968 rs199473639 Disease: Brugada syndrome 1 (BRGDA1) [MIM:601144]
40375 Q14524 (SCN5A) N K 1987 rs199473335 Disease: Atrial fibrillation , familial, 10 (ATFB10) [MIM:614022]
40376 Q14524 (SCN5A) R Q 1991 rs199473336 Benign
40377 Q14524 (SCN5A) F L 2004 rs41311117 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40378 Q14524 (SCN5A) F V 2004 rs41311117 Disease: Long QT syndrome 3 (LQT3) [MIM:603830]
40379 Q14526 (HIC1) R G 725 rs1063317 Benign
40380 Q14527 (HLTF) N S 311 rs2305868 Benign
40381 Q14527 (HLTF) E Q 362 rs2228257 Benign
40382 Q14527 (HLTF) R H 819 rs2229361 Benign
40383 Q14532 (KRT32) Q R 72 rs3744786 Benign
40384 Q14532 (KRT32) E K 89 rs565998951 Benign
40385 Q14532 (KRT32) E D 151 rs1111168 Benign
40386 Q14532 (KRT32) I T 171 rs2071560 Benign
40387 Q14532 (KRT32) S Y 222 rs2071561 Benign
40388 Q14532 (KRT32) R H 280 rs72830046 Benign
40389 Q14532 (KRT32) T M 339 rs16966929 Benign
40390 Q14532 (KRT32) T M 395 rs2071563 Benign
40391 Q14532 (KRT32) N S 402 rs2604955 Benign
40392 Q14532 (KRT32) P T 427 rs2604953 Benign
40393 Q14532 (KRT32) R C 428 rs9893787 Benign
40394 Q14533 (KRT81) G R 52 rs2071588 Benign
40395 Q14533 (KRT81) L R 248 rs6580873 Benign
40396 Q14533 (KRT81) R C 316 rs4761786 Benign
40397 Q14533 (KRT81) E K 402 rs56821304 Disease: Monilethrix (MNLIX) [MIM:158000]
40398 Q14533 (KRT81) R C 408 rs771393943 Disease: Monilethrix (MNLIX) [MIM:158000]
40399 Q14533 (KRT81) E K 413 rs57419521 Disease: Monilethrix (MNLIX) [MIM:158000]
40400 Q14541 (HNF4G) M I 190 rs1805098 Benign
40401 Q14542 (SLC29A2) D Y 5 rs8187643 Benign
40402 Q14542 (SLC29A2) N K 68 rs8187644 Benign
40403 Q14542 (SLC29A2) P L 94 rs8187648 Benign
40404 Q14549 (GBX1) A T 194 rs11975799 Benign
40405 Q14554 (PDIA5) T M 391 rs2292661 Benign
40406 Q14562 (DHX8) A G 1069 rs34285079 Benign
40407 Q14563 (SEMA3A) R W 66 rs199979628 Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40408 Q14563 (SEMA3A) N S 153 rs139295139 Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40409 Q14563 (SEMA3A) M T 342 - Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40410 Q14563 (SEMA3A) P S 396 rs866354226 Benign
40411 Q14563 (SEMA3A) I V 400 rs36026860 Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40412 Q14563 (SEMA3A) V I 435 rs147436181 Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40413 Q14563 (SEMA3A) D G 447 rs761486957 Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40414 Q14563 (SEMA3A) I M 657 rs748219597 Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40415 Q14563 (SEMA3A) T A 688 rs318240751 Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40416 Q14563 (SEMA3A) R Q 730 rs318240752 Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40417 Q14563 (SEMA3A) R H 733 rs318240753 Disease: Hypogonadotr opic hypogonadism 16 with or without anosmia (HH16) [MIM:614897]
40418 Q14565 (DMC1) G D 150 rs58396845 Benign
40419 Q14565 (DMC1) M V 200 rs2227914 Benign
40420 Q14566 (MCM6) E V 35 rs3087355 Benign
40421 Q14566 (MCM6) E K 806 rs4988283 Benign
40422 Q14568 (HSP90AA2P) T A 235 rs1826330 Benign
40423 Q14568 (HSP90AA2P) C Y 312 rs2726836 Benign
40424 Q14571 (ITPR2) A V 453 rs2230384 Benign
40425 Q14571 (ITPR2) E D 1143 rs2230373 Benign
40426 Q14571 (ITPR2) A V 1898 rs2230382 Benign
40427 Q14571 (ITPR2) G S 2498 rs786204832 Disease: Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM:106190]
40428 Q14573 (ITPR3) L W 374 rs2229646 Benign
40429 Q14573 (ITPR3) R Q 667 rs11963294 Benign
40430 Q14573 (ITPR3) D E 742 rs2229633 Benign
40431 Q14573 (ITPR3) G V 1029 rs2296333 Benign
40432 Q14573 (ITPR3) L V 1552 rs9461899 Benign
40433 Q14573 (ITPR3) R Q 1850 rs12528378 Benign
40434 Q14573 (ITPR3) E Q 2398 rs2229641 Benign
40435 Q14573 (ITPR3) L V 2436 rs2229642 Benign
40436 Q14574 (DSC3) A D 28 rs2852003 Benign
40437 Q14574 (DSC3) S T 78 rs276937 Benign
40438 Q14574 (DSC3) R K 102 rs276938 Benign
40439 Q14574 (DSC3) K Q 180 rs35296997 Benign
40440 Q14574 (DSC3) R W 199 rs276921 Benign
40441 Q14574 (DSC3) N S 239 rs35630063 Benign
40442 Q14584 (ZNF266) P L 519 rs10515 Benign
40443 Q14586 (ZNF267) M V 257 rs7202455 Benign
40444 Q14586 (ZNF267) C Y 350 rs3850114 Benign
40445 Q14587 (ZNF268) T M 175 rs7975069 Benign
40446 Q14588 (ZNF234) V I 16 rs2293587 Benign
40447 Q14588 (ZNF234) V M 208 rs11668974 Benign
40448 Q14590 (ZNF235) H P 296 rs2125579 Benign
40449 Q14593 (ZNF273) G E 454 rs1830080 Benign
40450 Q14593 (ZNF273) E D 461 rs2017252 Benign
40451 Q14596 (NBR1) H R 923 rs8482 Benign
40452 Q14623 (IHH) P L 46 rs121917856 Disease: Acrocapitofe moral dysplasia (ACFD) [MIM:607778]
40453 Q14623 (IHH) E K 95 rs121917852 Disease: Brachydactyl y A1 (BDA1) [MIM:112500]
40454 Q14623 (IHH) D E 100 rs121917854 Disease: Brachydactyl y A1 (BDA1) [MIM:112500]
40455 Q14623 (IHH) D N 100 rs121917855 Disease: Brachydactyl y A1 (BDA1) [MIM:112500]
40456 Q14623 (IHH) E K 131 rs121917853 Disease: Brachydactyl y A1 (BDA1) [MIM:112500]
40457 Q14623 (IHH) V A 190 rs121917857 Disease: Acrocapitofe moral dysplasia (ACFD) [MIM:607778]
40458 Q14624 (ITIH4) I N 85 rs13072536 Benign
40459 Q14624 (ITIH4) I N 86 - Benign
40460 Q14624 (ITIH4) Q L 669 rs2276814 Benign
40461 Q14624 (ITIH4) P T 698 rs4687657 Benign
40462 Q14624 (ITIH4) M I 714 rs2256734 Benign
40463 Q14624 (ITIH4) L P 791 rs2535621 Benign
40464 Q14626 (IL11RA) P T 65 rs11575589 Benign
40465 Q14626 (IL11RA) P R 221 rs387906785 Disease: Craniosynost osis and dental anomalies (CRSDA) [MIM:614188]
40466 Q14626 (IL11RA) S C 245 rs387906786 Disease: Craniosynost osis and dental anomalies (CRSDA) [MIM:614188]
40467 Q14626 (IL11RA) R W 296 rs387906784 Disease: Craniosynost osis and dental anomalies (CRSDA) [MIM:614188]
40468 Q14626 (IL11RA) R W 395 rs11575580 Benign
40469 Q14627 (IL13RA2) W R 111 rs17095919 Benign
40470 Q14642 (INPP5A) K R 45 rs1133400 Benign
40471 Q14643 (ITPR1) N D 602 rs397514536 Disease: Spinocerebel lar ataxia 29 (SCA29) [MIM:117360]
40472 Q14643 (ITPR1) M V 769 rs35789999 Benign
40473 Q14643 (ITPR1) P L 1083 rs121912425 Disease: Spinocerebel lar ataxia 15 (SCA15) [MIM:606658]
40474 Q14643 (ITPR1) I V 1430 rs3749383 Benign
40475 Q14643 (ITPR1) V M 1562 rs397514535 Disease: Spinocerebel lar ataxia 29 (SCA29) [MIM:117360]
40476 Q14643 (ITPR1) E Q 2109 - Disease: Gillespie syndrome (GLSP) [MIM:206700]
40477 Q14643 (ITPR1) G R 2554 rs752281590 Disease: Gillespie syndrome (GLSP) [MIM:206700]
40478 Q14643 (ITPR1) F L 2601 rs878853176 Disease: Gillespie syndrome (GLSP) [MIM:206700]
40479 Q14651 (PLS1) I M 146 rs35710125 Benign
40480 Q14651 (PLS1) S L 216 rs35435507 Benign
40481 Q14653 (IRF3) R Q 96 rs968457 Benign
40482 Q14653 (IRF3) Y F 107 rs34745118 Benign
40483 Q14653 (IRF3) R Q 285 rs750526659 Disease: Encephalopat hy, acute, infection- induced, Herpes- specific, 7 (IIAE7) [MIM:616532]
40484 Q14653 (IRF3) E K 377 rs1049486 Benign
40485 Q14653 (IRF3) S T 427 rs7251 Benign
40486 Q14654 (KCNJ11) E K 10 rs587783667 Benign
40487 Q14654 (KCNJ11) A G 18 rs41309072 Benign
40488 Q14654 (KCNJ11) E K 23 rs5219 Benign
40489 Q14654 (KCNJ11) R H 34 rs141145502 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40490 Q14654 (KCNJ11) F L 35 rs193929333 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40491 Q14654 (KCNJ11) F V 35 rs193929333 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40492 Q14654 (KCNJ11) G D 40 rs1001873841 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40493 Q14654 (KCNJ11) C R 42 rs80356610 Disease: Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
40494 Q14654 (KCNJ11) H Y 46 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40495 Q14654 (KCNJ11) R P 50 rs80356611 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40496 Q14654 (KCNJ11) R Q 50 rs80356611 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40497 Q14654 (KCNJ11) Q R 52 rs193929337 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40498 Q14654 (KCNJ11) G D 53 rs80356615 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40499 Q14654 (KCNJ11) G R 53 rs80356613 Disease: Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
40500 Q14654 (KCNJ11) G S 53 rs80356613 Disease: Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
40501 Q14654 (KCNJ11) F L 55 rs1343400778 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40502 Q14654 (KCNJ11) V G 59 rs80356617 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40503 Q14654 (KCNJ11) V M 59 rs80356616 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40504 Q14654 (KCNJ11) F Y 60 rs387906783 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40505 Q14654 (KCNJ11) K N 67 rs747719667 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40506 Q14654 (KCNJ11) W R 91 - Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40507 Q14654 (KCNJ11) A D 101 rs1014454531 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40508 Q14654 (KCNJ11) S P 116 - Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40509 Q14654 (KCNJ11) G A 134 - Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40510 Q14654 (KCNJ11) R L 136 rs1479483693 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40511 Q14654 (KCNJ11) L P 147 rs28936678 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40512 Q14654 (KCNJ11) I S 148 - Benign
40513 Q14654 (KCNJ11) G R 156 rs1404429785 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40514 Q14654 (KCNJ11) L P 164 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40515 Q14654 (KCNJ11) C Y 166 rs80356618 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40516 Q14654 (KCNJ11) I L 167 rs80356620 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40517 Q14654 (KCNJ11) K N 170 rs80356622 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40518 Q14654 (KCNJ11) K R 170 rs80356621 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40519 Q14654 (KCNJ11) K T 170 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40520 Q14654 (KCNJ11) I V 182 rs193929348 Disease: Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582]
40521 Q14654 (KCNJ11) R H 195 rs5217 Benign
40522 Q14654 (KCNJ11) R C 201 rs80356625 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40523 Q14654 (KCNJ11) R H 201 rs80356624 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40524 Q14654 (KCNJ11) R L 201 rs80356624 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40525 Q14654 (KCNJ11) D E 204 rs577757932 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40526 Q14654 (KCNJ11) E K 227 rs587783672 Disease: Maturity- onset diabetes of the young 13 (MODY13) [MIM:616329]
40527 Q14654 (KCNJ11) P L 254 rs104894237 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40528 Q14654 (KCNJ11) H R 259 rs104894248 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40529 Q14654 (KCNJ11) P L 266 rs1554901679 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40530 Q14654 (KCNJ11) L V 270 rs1800467 Benign
40531 Q14654 (KCNJ11) E K 282 rs267607196 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40532 Q14654 (KCNJ11) I L 296 rs193929353 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40533 Q14654 (KCNJ11) R H 301 rs74339576 Disease: Familial hyperinsulin emic hypoglycemia 2 (HHF2) [MIM:601820]
40534 Q14654 (KCNJ11) E K 322 rs193929355 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40535 Q14654 (KCNJ11) Y C 330 rs193929356 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40536 Q14654 (KCNJ11) Y S 330 - Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40537 Q14654 (KCNJ11) F I 333 rs193929357 Disease: Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
40538 Q14654 (KCNJ11) I V 337 rs5215 Benign
40539 Q14654 (KCNJ11) L P 355 rs797045635 Benign
40540 Q14654 (KCNJ11) S C 385 rs41282930 Benign
40541 Q14656 (TMEM187) S L 70 rs2266890 Benign
40542 Q14656 (TMEM187) M V 78 rs7350355 Benign
40543 Q14656 (TMEM187) R Q 138 rs36085378 Benign
40544 Q14657 (LAGE3) V F 106 rs1557211306 Disease: Galloway- Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006]
40545 Q14657 (LAGE3) F S 137 rs1557211209 Disease: Galloway- Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006]
40546 Q14667 (KIAA0100) H Q 986 rs16964472 Benign
40547 Q14667 (KIAA0100) V G 1516 rs12602520 Benign
40548 Q14667 (KIAA0100) R G 2060 rs16964462 Benign
40549 Q14669 (TRIP12) A V 761 rs373429636 Disease: Mental retardation, autosomal dominant 49 (MRD49) [MIM:617752]
40550 Q14669 (TRIP12) D H 1557 - Disease: Mental retardation, autosomal dominant 49 (MRD49) [MIM:617752]
40551 Q14669 (TRIP12) R Q 1595 rs1553602821 Disease: Mental retardation, autosomal dominant 49 (MRD49) [MIM:617752]
40552 Q14669 (TRIP12) S L 1840 rs866079762 Disease: Mental retardation, autosomal dominant 49 (MRD49) [MIM:617752]
40553 Q14671 (PUM1) T S 1033 rs771145682 Disease: Spinocerebel lar ataxia 47 (SCA47) [MIM:617931]
40554 Q14671 (PUM1) R W 1137 - Disease: Spinocerebel lar ataxia 47 (SCA47) [MIM:617931]
40555 Q14671 (PUM1) R W 1145 - Disease: Spinocerebel lar ataxia 47 (SCA47) [MIM:617931]
40556 Q14674 (ESPL1) S R 614 rs1318648 Benign
40557 Q14674 (ESPL1) R Q 699 rs34424268 Benign
40558 Q14674 (ESPL1) I V 1136 rs34130634 Benign
40559 Q14674 (ESPL1) T A 1157 rs35428211 Benign
40560 Q14674 (ESPL1) Q H 1237 rs34396464 Benign
40561 Q14674 (ESPL1) K M 1435 rs1110719 Benign
40562 Q14676 (MDC1) R C 179 rs28986464 Benign
40563 Q14676 (MDC1) E K 251 rs2517560 Benign
40564 Q14676 (MDC1) R K 268 rs9262152 Benign
40565 Q14676 (MDC1) E K 371 rs2075015 Benign
40566 Q14676 (MDC1) P L 386 rs28986465 Benign
40567 Q14676 (MDC1) I M 536 rs58344693 Benign
40568 Q14676 (MDC1) S A 586 rs2844707 Benign
40569 Q14676 (MDC1) R S 917 rs28986467 Benign
40570 Q14676 (MDC1) P A 1100 rs28994869 Benign
40571 Q14676 (MDC1) S F 1112 rs28987085 Benign
40572 Q14676 (MDC1) S P 1180 rs9461623 Benign
40573 Q14676 (MDC1) E D 1509 rs3132589 Benign
40574 Q14676 (MDC1) S P 1540 rs3130645 Benign
40575 Q14676 (MDC1) Q R 1545 rs17292678 Benign
40576 Q14676 (MDC1) P R 1745 rs28994871 Benign
40577 Q14676 (MDC1) V E 1791 rs28994873 Benign
40578 Q14676 (MDC1) D E 1855 rs28994874 Benign
40579 Q14676 (MDC1) R Q 1883 rs28994875 Benign
40580 Q14676 (MDC1) R Q 1904 rs28994876 Benign
40581 Q14678 (KANK1) N K 206 rs17857145 Benign
40582 Q14678 (KANK1) H Q 210 rs28374506 Benign
40583 Q14678 (KANK1) K R 321 rs17857159 Benign
40584 Q14678 (KANK1) E Q 432 rs4465020 Benign
40585 Q14678 (KANK1) S A 464 rs912174 Benign
40586 Q14678 (KANK1) A V 664 rs3824421 Benign
40587 Q14678 (KANK1) R H 667 rs3824420 Benign
40588 Q14678 (KANK1) N S 901 rs12352313 Benign
40589 Q14678 (KANK1) I T 1055 rs34832656 Benign
40590 Q14679 (TTLL4) N S 17 rs11542786 Benign
40591 Q14679 (TTLL4) E Q 34 rs3731877 Benign
40592 Q14679 (TTLL4) L P 364 rs3731875 Benign
40593 Q14679 (TTLL4) R H 418 rs2114664 Benign
40594 Q14679 (TTLL4) G S 518 rs17851914 Benign
40595 Q14679 (TTLL4) S G 524 rs17851915 Benign
40596 Q14679 (TTLL4) A S 852 rs17856640 Benign
40597 Q14679 (TTLL4) T I 1138 rs9989776 Benign
40598 Q14680 (MELK) T M 56 rs35233455 Benign
40599 Q14680 (MELK) K R 219 rs35142210 Benign
40600 Q14680 (MELK) R K 333 rs34655121 Benign
40601 Q14680 (MELK) T I 348 rs55845414 Benign
40602 Q14683 (SMC1A) T P 28 rs34530151 Benign
40603 Q14683 (SMC1A) F V 133 - Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40604 Q14683 (SMC1A) E K 141 rs587784420 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40605 Q14683 (SMC1A) R H 196 rs1556890815 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40606 Q14683 (SMC1A) R G 398 - Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40607 Q14683 (SMC1A) R Q 398 rs587784403 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40608 Q14683 (SMC1A) E A 493 rs122454122 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40609 Q14683 (SMC1A) R C 496 - Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40610 Q14683 (SMC1A) R H 496 rs122454123 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40611 Q14683 (SMC1A) R G 693 - Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40612 Q14683 (SMC1A) R Q 693 rs587784408 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40613 Q14683 (SMC1A) R Q 711 rs782176647 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40614 Q14683 (SMC1A) R W 711 rs587784409 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40615 Q14683 (SMC1A) C F 781 - Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40616 Q14683 (SMC1A) I T 784 rs387906702 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40617 Q14683 (SMC1A) R Q 790 rs797045993 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40618 Q14683 (SMC1A) R G 816 - Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40619 Q14683 (SMC1A) R Q 1049 rs587784416 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40620 Q14683 (SMC1A) Y C 1085 rs587784418 Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40621 Q14683 (SMC1A) F L 1122 - Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40622 Q14683 (SMC1A) R W 1123 - Disease: Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590]
40623 Q14684 (RRP1B) L P 436 rs9306160 Benign
40624 Q14686 (NCOA6) P L 512 rs6060031 Benign
40625 Q14686 (NCOA6) N S 955 rs17092079 Benign
40626 Q14686 (NCOA6) I V 1995 rs6060022 Benign
40627 Q14687 (GSE1) V A 936 rs17853763 Benign
40628 Q14687 (GSE1) R Q 1153 rs2303203 Benign
40629 Q14689 (DIP2A) P A 191 rs7283507 Benign
40630 Q14689 (DIP2A) S N 372 rs16979312 Benign
40631 Q14690 (PDCD11) K E 45 rs150893869 Benign
40632 Q14690 (PDCD11) S N 397 rs7074814 Benign
40633 Q14690 (PDCD11) A S 623 rs11598673 Benign
40634 Q14690 (PDCD11) A S 780 rs11591914 Benign
40635 Q14690 (PDCD11) L F 1216 rs2986014 Benign
40636 Q14690 (PDCD11) P S 1453 rs2274289 Benign
40637 Q14690 (PDCD11) D A 1871 rs7831 Benign
40638 Q14691 (GINS1) R C 83 rs137901350 Disease: Immunodefici ency 55 (IMD55) [MIM:617827]
40639 Q14691 (GINS1) V I 97 rs6076347 Benign
40640 Q14691 (GINS1) C Y 152 rs376610445 Disease: Immunodefici ency 55 (IMD55) [MIM:617827]
40641 Q14692 (BMS1) R H 237 rs2272881 Benign
40642 Q14692 (BMS1) S P 552 rs3814621 Benign
40643 Q14692 (BMS1) K R 652 rs787795 Benign
40644 Q14692 (BMS1) M V 884 rs2419109 Benign
40645 Q14692 (BMS1) R H 930 rs587777706 Disease: Aplasia cutis congenita, non- syndromic (ACC) [MIM:107600]
40646 Q14692 (BMS1) V I 1141 rs12764004 Benign
40647 Q14693 (LPIN1) P S 610 rs4669781 Benign
40648 Q14693 (LPIN1) S T 637 rs17852755 Benign
40649 Q14694 (USP10) M V 200 rs1862792 Benign
40650 Q14694 (USP10) S P 203 rs2326391 Benign
40651 Q14694 (USP10) V L 204 rs1812061 Benign
40652 Q14695 (KIAA0087) S N 85 rs740182 Benign
40653 Q14697 (GANAB) Q R 95 rs1392032530 Benign
40654 Q14697 (GANAB) R W 154 rs2276296 Benign
40655 Q14697 (GANAB) R Q 173 rs2276295 Benign
40656 Q14697 (GANAB) T A 232 - Benign
40657 Q14697 (GANAB) R C 309 rs1063445 Benign
40658 Q14697 (GANAB) T R 383 rs879255642 Disease: Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666]
40659 Q14697 (GANAB) R L 400 rs770519542 Disease: Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666]
40660 Q14697 (GANAB) R W 817 rs879255643 Disease: Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666]
40661 Q14697 (GANAB) H Y 850 rs114915323 Benign
40662 Q14699 (RFTN1) E K 248 rs34276015 Benign
40663 Q14699 (RFTN1) V I 421 rs11554130 Benign
40664 Q14703 (MBTPS1) I T 6 rs34701895 Benign
40665 Q14703 (MBTPS1) R G 90 rs34076105 Benign
40666 Q14703 (MBTPS1) D G 365 rs1226321681 Disease: Spondyloepip hyseal dysplasia, Kondo-Fu type (SEDKF) [MIM:618392]
40667 Q14714 (SSPN) S N 186 rs12313670 Benign
40668 Q14714 (SSPN) V I 228 rs12313736 Benign
40669 Q14721 (KCNB1) R C 306 rs1555889130 Disease: Epileptic encephalopat hy, early infantile, 26 (EIEE26) [MIM:616056]
40670 Q14721 (KCNB1) S R 347 rs587777848 Disease: Epileptic encephalopat hy, early infantile, 26 (EIEE26) [MIM:616056]
40671 Q14721 (KCNB1) T I 374 rs587777849 Disease: Epileptic encephalopat hy, early infantile, 26 (EIEE26) [MIM:616056]
40672 Q14721 (KCNB1) V A 378 - Disease: Epileptic encephalopat hy, early infantile, 26 (EIEE26) [MIM:616056]
40673 Q14721 (KCNB1) G R 379 rs587777850 Disease: Epileptic encephalopat hy, early infantile, 26 (EIEE26) [MIM:616056]
40674 Q14721 (KCNB1) G R 401 - Disease: Epileptic encephalopat hy, early infantile, 26 (EIEE26) [MIM:616056]
40675 Q14721 (KCNB1) T N 616 rs2229006 Benign
40676 Q14721 (KCNB1) T S 616 rs2229006 Benign
40677 Q14721 (KCNB1) P S 825 rs34467662 Benign
40678 Q14721 (KCNB1) S N 857 rs34280195 Benign
40679 Q14738 (PPP2R5D) P S 53 rs757369209 Benign
40680 Q14738 (PPP2R5D) E K 198 rs863225082 Disease: Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
40681 Q14738 (PPP2R5D) E K 200 rs863225079 Disease: Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
40682 Q14738 (PPP2R5D) P R 201 rs876657383 Disease: Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
40683 Q14738 (PPP2R5D) W R 207 rs869320691 Disease: Mental retardation, autosomal dominant 35 (MRD35) [MIM:616355]
40684 Q14739 (LBR) P L 119 rs137852605 Disease: Pelger-Huet anomaly (PHA) [MIM:169400]
40685 Q14739 (LBR) S N 154 rs2230419 Benign
40686 Q14739 (LBR) R C 169 rs2230420 Benign
40687 Q14739 (LBR) T A 311 rs2275601 Benign
40688 Q14739 (LBR) R C 372 rs200180113 Disease: Reynolds syndrome (REYNS) [MIM:613471]
40689 Q14739 (LBR) N D 547 rs587777171 Disease: Greenberg dysplasia (GRBGD) [MIM:215140]
40690 Q14739 (LBR) P R 569 rs137852606 Disease: Pelger-Huet anomaly (PHA) [MIM:169400]
40691 Q14739 (LBR) R Q 583 rs587777172 Disease: Greenberg dysplasia (GRBGD) [MIM:215140]
40692 Q14746 (COG2) R H 288 rs34796217 Benign
40693 Q14746 (COG2) N K 304 rs6681346 Benign
40694 Q14746 (COG2) V I 589 rs34109129 Benign
40695 Q14746 (COG2) W G 634 rs1085307117 Disease: Congenital disorder of glycosylatio n 2Q (CDG2Q) [MIM:617395]
40696 Q14749 (GNMT) L P 50 rs121907888 Disease: Glycine N-methyltran sferase deficiency (GNMT deficiency) [MIM:606664]
40697 Q14749 (GNMT) N S 141 rs864321678 Disease: Glycine N-methyltran sferase deficiency (GNMT deficiency) [MIM:606664]
40698 Q14749 (GNMT) H N 177 rs121907889 Disease: Glycine N-methyltran sferase deficiency (GNMT deficiency) [MIM:606664]
40699 Q14761 (PTPRCAP) G E 128 rs60969594 Benign
40700 Q14764 (MVP) D E 87 - Benign
40701 Q14764 (MVP) V I 635 rs35916172 Benign
40702 Q14764 (MVP) R Q 651 rs3764944 Benign
40703 Q14765 (STAT4) I V 115 rs3024839 Benign
40704 Q14765 (STAT4) R W 584 rs3024933 Benign
40705 Q14767 (LTBP2) R M 37 rs934996 Benign
40706 Q14767 (LTBP2) P Q 319 rs2304707 Benign
40707 Q14767 (LTBP2) P S 591 rs2196862 Benign
40708 Q14767 (LTBP2) V M 1177 rs137854856 Disease: Weill- Marchesani syndrome 3 (WMS3) [MIM:614819]
40709 Q14773 (ICAM4) Q R 100 rs77493670 Benign
40710 Q14773 (ICAM4) V L 208 rs36023325 Benign
40711 Q14774 (HLX) S P 116 rs12141189 Benign
40712 Q14774 (HLX) P L 356 rs2738755 Benign
40713 Q14774 (HLX) A G 387 rs11578466 Benign
40714 Q14781 (CBX2) P L 98 rs121908255 Disease: 46,XY sex reversal 5 (SRXY5) [MIM:613080]
40715 Q14781 (CBX2) R P 443 rs121908256 Disease: 46,XY sex reversal 5 (SRXY5) [MIM:613080]
40716 Q14789 (GOLGB1) T S 911 rs3732407 Benign
40717 Q14789 (GOLGB1) Y C 1212 rs3732410 Benign
40718 Q14789 (GOLGB1) P S 1249 rs33988592 Benign
40719 Q14789 (GOLGB1) C F 1713 rs35674179 Benign
40720 Q14789 (GOLGB1) G D 1765 rs1127412 Benign
40721 Q14790 (CASP8) S T 219 rs35976359 Benign
40722 Q14790 (CASP8) R W 248 rs17860424 Disease: Caspase-8 deficiency (CASP8D) [MIM:607271]
40723 Q14790 (CASP8) D H 285 rs1045485 Benign
40724 Q147U1 (ZNF846) C Y 450 rs10414485 Benign
40725 Q147U1 (ZNF846) Y C 492 rs10420364 Benign
40726 Q147U7 (SMCO1) H Y 20 rs9869292 Benign
40727 Q147U7 (SMCO1) R W 64 rs11926701 Benign
40728 Q14802 (FXYD3) G S 40 rs35578165 Benign
40729 Q14807 (KIF22) P L 148 rs193922921 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]
40730 Q14807 (KIF22) P S 148 rs193922920 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]
40731 Q14807 (KIF22) R L 149 rs193922922 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]
40732 Q14807 (KIF22) R Q 149 rs193922922 Disease: Spondyloepim etaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]
40733 Q14807 (KIF22) R Q 232 rs201659270 Benign
40734 Q14814 (MEF2D) P S 434 rs2274315 Benign
40735 Q14831 (GRM7) Y F 433 rs2229902 Benign
40736 Q14831 (GRM7) I V 495 rs7634846 Benign
40737 Q14831 (GRM7) G E 745 rs1485174 Benign
40738 Q14832 (GRM3) G D 475 rs17161026 Benign
40739 Q14833 (GRM4) L F 169 rs452752 Benign
40740 Q14833 (GRM4) V I 797 rs149730753 Benign
40741 Q14839 (CHD4) E D 139 rs1639122 Benign
40742 Q14839 (CHD4) S Y 851 rs886039916 Disease: Sifrim-Hitz- Weiss syndrome (SIHIWES) [MIM:617159]
40743 Q14839 (CHD4) G D 1003 - Disease: Sifrim-Hitz- Weiss syndrome (SIHIWES) [MIM:617159]
40744 Q14839 (CHD4) R H 1068 rs886039915 Disease: Sifrim-Hitz- Weiss syndrome (SIHIWES) [MIM:617159]
40745 Q14839 (CHD4) R Q 1127 rs886039917 Disease: Sifrim-Hitz- Weiss syndrome (SIHIWES) [MIM:617159]
40746 Q14839 (CHD4) W L 1148 rs886039919 Disease: Sifrim-Hitz- Weiss syndrome (SIHIWES) [MIM:617159]
40747 Q14839 (CHD4) R L 1173 rs886039918 Disease: Sifrim-Hitz- Weiss syndrome (SIHIWES) [MIM:617159]
40748 Q14839 (CHD4) S L 1648 rs35512811 Benign
40749 Q14839 (CHD4) I V 1655 rs16932768 Benign
40750 Q14849 (STARD3) R Q 117 rs1877031 Benign
40751 Q14849 (STARD3) G A 216 rs11556624 Benign
40752 Q14894 (CRYM) K T 314 rs104894512 Disease: Deafness, autosomal dominant, 40 (DFNA40) [MIM:616357]
40753 Q14896 (MYBPC3) G R 5 rs201278114 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40754 Q14896 (MYBPC3) T A 59 rs121909375 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40755 Q14896 (MYBPC3) P L 147 rs730880615 Benign
40756 Q14896 (MYBPC3) V M 158 rs3729986 Benign
40757 Q14896 (MYBPC3) P S 161 rs397516053 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40758 Q14896 (MYBPC3) V I 189 rs11570052 Benign
40759 Q14896 (MYBPC3) V L 219 rs397516068 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40760 Q14896 (MYBPC3) D N 228 rs369300885 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40761 Q14896 (MYBPC3) S G 236 rs3729989 Benign
40762 Q14896 (MYBPC3) Y S 237 rs397516070 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40763 Q14896 (MYBPC3) V I 256 rs1444087775 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40764 Q14896 (MYBPC3) H P 257 rs890299857 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40765 Q14896 (MYBPC3) E K 258 rs397516074 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40766 Q14896 (MYBPC3) G R 263 rs373730381 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40767 Q14896 (MYBPC3) R C 272 rs397516075 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40768 Q14896 (MYBPC3) G E 278 rs147315081 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40769 Q14896 (MYBPC3) G A 279 rs375774648 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40770 Q14896 (MYBPC3) R Q 281 rs11570060 Benign
40771 Q14896 (MYBPC3) R W 282 rs727504234 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40772 Q14896 (MYBPC3) R Q 326 rs34580776 Benign
40773 Q14896 (MYBPC3) E K 334 rs573916965 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40774 Q14896 (MYBPC3) I V 336 - Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40775 Q14896 (MYBPC3) V D 342 rs730880709 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40776 Q14896 (MYBPC3) L P 352 rs1460895809 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40777 Q14896 (MYBPC3) R W 382 rs11570076 Benign
40778 Q14896 (MYBPC3) L V 383 rs11570077 Benign
40779 Q14896 (MYBPC3) G S 416 rs371513491 Benign
40780 Q14896 (MYBPC3) A S 417 - Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40781 Q14896 (MYBPC3) E Q 451 rs786204338 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40782 Q14896 (MYBPC3) R H 458 rs374255707 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40783 Q14896 (MYBPC3) G R 490 rs200625851 Disease: Left ventricular non- compaction 10 (LVNC10) [MIM:615396]
40784 Q14896 (MYBPC3) G V 490 rs397514752 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40785 Q14896 (MYBPC3) R G 495 rs397515905 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40786 Q14896 (MYBPC3) R Q 495 rs200411226 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40787 Q14896 (MYBPC3) R Q 502 rs397515907 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40788 Q14896 (MYBPC3) R W 502 rs375882485 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40789 Q14896 (MYBPC3) G R 507 rs35736435 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40790 Q14896 (MYBPC3) A T 522 rs11570082 Benign
40791 Q14896 (MYBPC3) G W 523 rs1168604846 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40792 Q14896 (MYBPC3) E Q 542 rs121909374 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40793 Q14896 (MYBPC3) L M 545 rs377163678 Benign
40794 Q14896 (MYBPC3) A V 562 rs730880694 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40795 Q14896 (MYBPC3) C R 566 rs730880695 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40796 Q14896 (MYBPC3) D V 604 rs1172145591 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40797 Q14896 (MYBPC3) P L 608 rs778623429 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40798 Q14896 (MYBPC3) A V 627 rs1352376969 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40799 Q14896 (MYBPC3) R H 654 rs1800565 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40800 Q14896 (MYBPC3) R H 668 rs727503191 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40801 Q14896 (MYBPC3) R P 668 rs727503191 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40802 Q14896 (MYBPC3) L H 669 - Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40803 Q14896 (MYBPC3) N K 755 rs1060501474 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40804 Q14896 (MYBPC3) E D 759 rs765629179 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40805 Q14896 (MYBPC3) D N 770 rs36211723 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40806 Q14896 (MYBPC3) V M 771 rs371488302 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40807 Q14896 (MYBPC3) W R 792 rs187830361 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40808 Q14896 (MYBPC3) R H 810 rs375675796 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40809 Q14896 (MYBPC3) K R 811 rs1338707268 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40810 Q14896 (MYBPC3) R Q 820 rs2856655 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40811 Q14896 (MYBPC3) A T 833 rs199865688 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40812 Q14896 (MYBPC3) A V 833 rs3729952 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40813 Q14896 (MYBPC3) R T 834 - Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40814 Q14896 (MYBPC3) P H 873 rs371401403 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40815 Q14896 (MYBPC3) P L 873 rs371401403 Disease: Left ventricular non- compaction 10 (LVNC10) [MIM:615396]
40816 Q14896 (MYBPC3) V M 896 rs35078470 Benign
40817 Q14896 (MYBPC3) N T 948 rs121909376 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40818 Q14896 (MYBPC3) T S 957 rs193922380 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40819 Q14896 (MYBPC3) T I 958 rs376504548 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40820 Q14896 (MYBPC3) Q E 998 rs11570112 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40821 Q14896 (MYBPC3) Q R 998 rs727503177 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40822 Q14896 (MYBPC3) R W 1002 rs3729799 Benign
40823 Q14896 (MYBPC3) R Q 1002 rs727504235 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40824 Q14896 (MYBPC3) P Q 1003 - Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40825 Q14896 (MYBPC3) T S 1028 rs397516002 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40826 Q14896 (MYBPC3) T M 1046 rs371061770 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40827 Q14896 (MYBPC3) R C 1048 rs11570113 Benign
40828 Q14896 (MYBPC3) F I 1113 rs1393559112 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40829 Q14896 (MYBPC3) V I 1115 rs531189495 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40830 Q14896 (MYBPC3) R H 1138 rs187705120 Benign
40831 Q14896 (MYBPC3) A T 1194 rs397516026 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40832 Q14896 (MYBPC3) G R 1248 rs202147520 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40833 Q14896 (MYBPC3) A T 1255 rs727503167 Disease: Cardiomyopat hy, familial hypertrophic 4 (CMH4) [MIM:115197]
40834 Q14896 (MYBPC3) C F 1264 rs397514751 Disease: Cardiomyopat hy, dilated 1MM (CMD1MM) [MIM:615396]
40835 Q14914 (PTGR1) A S 27 rs1053959 Benign
40836 Q14916 (SLC17A1) S N 76 rs6933573 Benign
40837 Q14916 (SLC17A1) T I 269 rs1165196 Benign
40838 Q14929 (ZNF169) P L 72 rs1536690 Benign
40839 Q14929 (ZNF169) E K 78 rs35177967 Benign
40840 Q14929 (ZNF169) S L 152 rs34433105 Benign
40841 Q14929 (ZNF169) R C 381 rs12236219 Benign
40842 Q14929 (ZNF169) Q H 596 rs12350212 Benign
40843 Q14934 (NFATC4) G A 160 rs2229309 Benign
40844 Q14934 (NFATC4) S N 246 rs2228231 Benign
40845 Q14934 (NFATC4) S P 800 rs7149586 Benign
40846 Q14938 (NFIX) R C 38 - Disease: Sotos syndrome 2 (SOTOS2) [MIM:614753]
40847 Q14938 (NFIX) R P 54 - Disease: Sotos syndrome 2 (SOTOS2) [MIM:614753]
40848 Q14938 (NFIX) L P 60 rs387907254 Disease: Sotos syndrome 2 (SOTOS2) [MIM:614753]
40849 Q14938 (NFIX) R P 116 - Disease: Sotos syndrome 2 (SOTOS2) [MIM:614753]
40850 Q14938 (NFIX) R P 121 rs387907255 Disease: Sotos syndrome 2 (SOTOS2) [MIM:614753]
40851 Q14938 (NFIX) K E 125 - Disease: Sotos syndrome 2 (SOTOS2) [MIM:614753]
40852 Q14943 (KIR3DS1) L S 2 rs605219 Benign
40853 Q14943 (KIR3DS1) L F 13 rs1142881 Benign
40854 Q14943 (KIR3DS1) V I 68 rs643347 Benign
40855 Q14943 (KIR3DS1) R K 157 - Benign
40856 Q14943 (KIR3DS1) R H 166 rs375468097 Benign
40857 Q14943 (KIR3DS1) P S 203 rs2273731 Benign
40858 Q14943 (KIR3DS1) L P 220 rs680891 Benign
40859 Q14943 (KIR3DS1) G R 259 rs1049215 Benign
40860 Q14953 (KIR2DS5) S L 2 - Benign
40861 Q14953 (KIR2DS5) H R 22 - Benign
40862 Q14953 (KIR2DS5) S P 132 - Benign
40863 Q14953 (KIR2DS5) S N 144 - Benign
40864 Q14953 (KIR2DS5) S F 148 - Benign
40865 Q14953 (KIR2DS5) P T 175 - Benign
40866 Q14953 (KIR2DS5) R G 179 - Benign
40867 Q14953 (KIR2DS5) F S 185 - Benign
40868 Q14953 (KIR2DS5) T A 195 - Benign
40869 Q14953 (KIR2DS5) R T 197 - Benign
40870 Q14953 (KIR2DS5) R H 203 - Benign
40871 Q14953 (KIR2DS5) E K 237 - Benign
40872 Q14954 (KIR2DS1) K R 91 rs687485 Benign
40873 Q14954 (KIR2DS1) L V 111 rs687885 Benign
40874 Q14956 (GPNMB) S C 195 rs530436 Benign
40875 Q14956 (GPNMB) N H 197 rs530413 Benign
40876 Q14956 (GPNMB) S F 294 rs35499907 Benign
40877 Q14956 (GPNMB) P L 324 rs35363287 Benign
40878 Q14956 (GPNMB) S R 538 rs35878037 Benign
40879 Q14957 (GRIN2C) V I 90 rs192960268 Benign
40880 Q14957 (GRIN2C) A V 166 rs201199917 Benign
40881 Q14957 (GRIN2C) M T 573 - Benign
40882 Q14957 (GRIN2C) A T 641 rs746610735 Benign
40883 Q14957 (GRIN2C) Q R 871 rs765016248 Benign
40884 Q14957 (GRIN2C) P S 877 rs139011774 Benign
40885 Q14957 (GRIN2C) S I 911 rs370546831 Benign
40886 Q14957 (GRIN2C) P A 982 rs960726960 Benign
40887 Q14957 (GRIN2C) H Y 1079 rs889196426 Benign
40888 Q14957 (GRIN2C) P A 1141 rs751640851 Benign
40889 Q14957 (GRIN2C) G R 1180 rs115230539 Benign
40890 Q14957 (GRIN2C) T I 1196 rs143282101 Benign
40891 Q14957 (GRIN2C) R S 1209 rs3744215 Benign
40892 Q14966 (ZNF638) I V 110 rs12612365 Benign
40893 Q14966 (ZNF638) N S 980 rs3732235 Benign
40894 Q14966 (ZNF638) S N 1462 rs10427371 Benign
40895 Q14966 (ZNF638) V M 1726 rs1804020 Benign
40896 Q14966 (ZNF638) A V 1912 rs11542286 Benign
40897 Q14973 (SLC10A1) S F 267 rs2296651 Benign
40898 Q14978 (NOLC1) G V 412 rs11191224 Benign
40899 Q14978 (NOLC1) S P 456 rs1049455 Benign
40900 Q14980 (NUMA1) K R 242 rs34239655 Benign
40901 Q14980 (NUMA1) A G 794 rs3750913 Benign
40902 Q14980 (NUMA1) E D 1153 rs34311364 Benign
40903 Q14980 (NUMA1) V M 1825 rs7949430 Benign
40904 Q14980 (NUMA1) Y H 1836 rs35586429 Benign
40905 Q14980 (NUMA1) A T 2049 rs5743685 Benign
40906 Q14982 (OPCML) P R 95 rs137852691 Disease: Ovarian cancer (OC) [MIM:167000]
40907 Q14990 (ODF1) S N 216 rs2916569 Benign
40908 Q14990 (ODF1) F L 243 rs11995900 Benign
40909 Q14993 (COL19A1) A G 352 rs2273426 Benign
40910 Q14993 (COL19A1) G E 406 rs13204209 Benign
40911 Q14993 (COL19A1) E G 496 rs13204209 Benign
40912 Q14994 (NR1I3) V G 133 - Benign
40913 Q14995 (NR1D2) P H 21 rs17854365 Benign
40914 Q14995 (NR1D2) Q K 282 rs17857305 Benign
40915 Q14995 (NR1D2) P R 288 rs17857306 Benign
40916 Q14995 (NR1D2) L M 386 rs4858097 Benign
40917 Q14997 (PSME4) I V 872 rs2302878 Benign
40918 Q14997 (PSME4) S T 1371 rs805408 Benign
40919 Q14997 (PSME4) T A 1825 rs35903236 Benign
40920 Q14999 (CUL7) S G 616 rs7774330 Benign
40921 Q14999 (CUL7) Q R 813 rs9381231 Benign
40922 Q14999 (CUL7) R Q 852 rs34574340 Benign
40923 Q14999 (CUL7) Q H 1246 rs36071170 Benign
40924 Q14999 (CUL7) Q G 1246 - Disease: 3M syndrome 1 (3M1) [MIM:273750]
40925 Q14999 (CUL7) H P 1464 rs121918229 Disease: 3M syndrome 1 (3M1) [MIM:273750]
40926 Q14999 (CUL7) L P 1588 rs759300846 Disease: 3M syndrome 1 (3M1) [MIM:273750]
40927 Q149M9 (NWD1) S G 174 rs3888834 Benign
40928 Q149M9 (NWD1) L F 211 rs11668502 Benign
40929 Q149M9 (NWD1) A T 218 rs706764 Benign
40930 Q149M9 (NWD1) Q E 900 rs773930 Benign
40931 Q149M9 (NWD1) N I 926 rs2608737 Benign
40932 Q149M9 (NWD1) H R 935 rs2608738 Benign
40933 Q149M9 (NWD1) D V 1541 rs11671361 Benign
40934 Q14C87 (TMEM132D) E Q 436 rs12816729 Benign
40935 Q14C87 (TMEM132D) D H 460 rs12816538 Benign
40936 Q14C87 (TMEM132D) L F 878 rs555131 Benign
40937 Q14CB8 (ARHGAP19) Q R 305 rs17112598 Benign
40938 Q14CM0 (FRMPD4) C R 553 rs886038209 Disease: Mental retardation, X-linked 104 (MRX104) [MIM:300983]
40939 Q14CN2 (CLCA4) P S 43 rs2231580 Benign
40940 Q14CN2 (CLCA4) D V 443 rs2839932 Benign
40941 Q14CN2 (CLCA4) M L 449 rs1011048 Benign
40942 Q14CN2 (CLCA4) V L 810 rs2231604 Benign
40943 Q14CN4 (KRT72) N D 171 rs11170187 Benign
40944 Q14CN4 (KRT72) Y C 264 rs12833456 Benign
40945 Q14CN4 (KRT72) Q E 326 rs34769047 Benign
40946 Q14CN4 (KRT72) D E 366 rs7310138 Benign
40947 Q14CN4 (KRT72) R L 428 rs11170183 Benign
40948 Q14CX7 (NAA25) L F 426 rs16941860 Benign
40949 Q14CX7 (NAA25) K R 876 rs12231744 Benign
40950 Q14CX7 (NAA25) L I 915 rs12298022 Benign
40951 Q14CZ0 (C16orf72) N S 221 rs34869458 Benign
40952 Q14CZ7 (FASTKD3) L F 3 rs3733782 Benign
40953 Q14CZ7 (FASTKD3) K R 56 rs2966952 Benign
40954 Q14CZ7 (FASTKD3) E G 459 rs16879259 Benign
40955 Q14CZ8 (HEPACAM) L H 23 - Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
40956 Q14CZ8 (HEPACAM) G D 89 rs387907054 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
40957 Q14CZ8 (HEPACAM) G S 89 rs387907053 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
40958 Q14CZ8 (HEPACAM) R Q 92 rs387907050 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
40959 Q14CZ8 (HEPACAM) R W 92 rs387907055 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
40960 Q14CZ8 (HEPACAM) R C 98 rs387907052 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
40961 Q14CZ8 (HEPACAM) D N 128 - Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
40962 Q14CZ8 (HEPACAM) P S 148 rs1555055028 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
40963 Q14CZ8 (HEPACAM) S Y 196 rs387907049 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
40964 Q14CZ8 (HEPACAM) D N 211 rs387907051 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2A (MLC2A) [MIM:613925]
40965 Q14CZ8 (HEPACAM) M V 218 rs10790715 Benign
40966 Q14CZ8 (HEPACAM) R C 288 rs149782549 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 2B (MLC2B) [MIM:613926]
40967 Q14D04 (VEPH1) S C 208 rs34559487 Benign
40968 Q14D04 (VEPH1) V G 263 rs1378796 Benign
40969 Q14D04 (VEPH1) S C 271 rs1378795 Benign
40970 Q14D04 (VEPH1) M V 319 rs11923380 Benign
40971 Q14D04 (VEPH1) L V 329 rs34823544 Benign
40972 Q14D04 (VEPH1) R Q 365 rs16827563 Benign
40973 Q14D04 (VEPH1) S L 501 rs59504298 Benign
40974 Q14D04 (VEPH1) S P 522 rs11918974 Benign
40975 Q14D33 (RTP5) G E 101 rs7420371 Benign
40976 Q14D33 (RTP5) G D 412 - Benign
40977 Q14DG7 (TMEM132B) A V 658 rs16919359 Benign
40978 Q15003 (NCAPH) P L 243 rs1553446603 Disease: Microcephaly 23, primary, autosomal recessive (MCPH23) [MIM:617985]
40979 Q15003 (NCAPH) V A 539 rs2305935 Benign
40980 Q15004 (PCLAF) E K 79 rs11554313 Benign
40981 Q15007 (WTAP) E D 84 rs35059844 Benign
40982 Q15011 (HERPUD1) R H 50 rs2217332 Benign
40983 Q15020 (SART3) D E 23 rs2072579 Benign
40984 Q15020 (SART3) E D 621 rs2287546 Benign
40985 Q15021 (NCAPD2) Q E 83 rs714774 Benign
40986 Q15021 (NCAPD2) K R 580 rs17725914 Benign
40987 Q15021 (NCAPD2) V M 797 rs10849482 Benign
40988 Q15021 (NCAPD2) T S 1321 rs2240871 Benign
40989 Q15022 (SUZ12) N I 216 rs17339444 Benign
40990 Q15022 (SUZ12) E V 610 rs1131692177 Benign
40991 Q15024 (EXOSC7) R Q 169 rs34512144 Benign
40992 Q15024 (EXOSC7) V L 274 rs6794 Benign
40993 Q15025 (TNIP1) P S 103 rs2303018 Benign
40994 Q15025 (TNIP1) A V 146 rs2233289 Benign
40995 Q15025 (TNIP1) P A 151 rs2233290 Benign
40996 Q15025 (TNIP1) R Q 233 rs2233292 Benign
40997 Q15025 (TNIP1) A V 260 rs2233295 Benign
40998 Q15027 (ACAP1) R C 68 rs35933585 Benign
40999 Q15027 (ACAP1) R W 533 rs35019942 Benign
41000 Q15029 (EFTUD2) R W 262 rs387906877 Disease: Mandibulofac ial dysostosis with microcephaly (MFDM) [MIM:610536]
41001 Q15029 (EFTUD2) C R 476 - Disease: Mandibulofac ial dysostosis with microcephaly (MFDM) [MIM:610536]
41002 Q15029 (EFTUD2) L R 637 rs387906879 Disease: Mandibulofac ial dysostosis with microcephaly (MFDM) [MIM:610536]
41003 Q15029 (EFTUD2) G V 773 rs1056505 Benign
41004 Q15031 (LARS2) A V 430 rs879255606 Disease: Hydrops, lactic acidosis, and sideroblasti c anemia (HLASA) [MIM:617021]
41005 Q15031 (LARS2) T N 522 rs199589947 Disease: Perrault syndrome 4 (PRLTS4) [MIM:615300]
41006 Q15031 (LARS2) K N 727 rs36054230 Benign
41007 Q15031 (LARS2) E D 831 rs9827689 Benign
41008 Q15032 (R3HDM1) M V 270 rs961360 Benign
41009 Q15032 (R3HDM1) Q P 632 rs2305165 Benign
41010 Q15034 (HERC3) E Q 946 rs1804080 Benign
41011 Q15038 (DAZAP2) S A 102 rs57917280 Benign
41012 Q15040 (JOSD1) S R 48 rs6001200 Benign
41013 Q15042 (RAB3GAP1) N S 598 rs10445686 Benign
41014 Q15043 (SLC39A14) L P 33 rs896378 Benign
41015 Q15043 (SLC39A14) F V 98 rs879253763 Disease: Hypermangane semia with dystonia 2 (HMNDYT2) [MIM:617013]
41016 Q15043 (SLC39A14) G R 383 rs879253766 Disease: Hypermangane semia with dystonia 2 (HMNDYT2) [MIM:617013]
41017 Q15043 (SLC39A14) L R 441 rs1554520924 Disease: Hyperostosis cranialis interna (HCIN) [MIM:144755]
41018 Q15043 (SLC39A14) N K 469 rs750281602 Disease: Hypermangane semia with dystonia 2 (HMNDYT2) [MIM:617013]
41019 Q15046 (KARS1) L H 105 rs267607194 Disease: Charcot- Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641]
41020 Q15046 (KARS1) Y H 145 rs397514745 Disease: Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]
41021 Q15046 (KARS1) G A 179 rs11557665 Benign
41022 Q15046 (KARS1) I M 274 rs146955132 Disease: Charcot- Marie-Tooth disease, recessive, intermediate type, B (CMTRIB) [MIM:613641]
41023 Q15046 (KARS1) D N 349 rs397514746 Disease: Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916]
41024 Q15046 (KARS1) R H 477 rs778748895 Disease: -
41025 Q15046 (KARS1) P S 505 - Disease: -
41026 Q15046 (KARS1) T S 595 rs6834 Benign
41027 Q15047 (SETDB1) N S 236 rs2271075 Benign
41028 Q15047 (SETDB1) P S 506 rs17852587 Benign
41029 Q15047 (SETDB1) A G 824 rs2691551 Benign
41030 Q15047 (SETDB1) A P 824 rs2814054 Benign
41031 Q15048 (LRRC14) G D 437 rs3735854 Benign
41032 Q15049 (MLC1) G E 59 rs80358242 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41033 Q15049 (MLC1) S L 69 rs281875309 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41034 Q15049 (MLC1) M I 80 rs281875310 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41035 Q15049 (MLC1) R C 84 rs281875311 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41036 Q15049 (MLC1) P S 92 rs121908345 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41037 Q15049 (MLC1) S L 93 rs80358245 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41038 Q15049 (MLC1) T R 118 rs281875316 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41039 Q15049 (MLC1) C R 125 rs281875314 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41040 Q15049 (MLC1) N K 141 rs121908343 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41041 Q15049 (MLC1) N S 141 rs121908344 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41042 Q15049 (MLC1) C F 171 rs6010260 Benign
41043 Q15049 (MLC1) G R 212 rs281875317 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41044 Q15049 (MLC1) A P 245 rs281875312 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41045 Q15049 (MLC1) S R 246 rs281875315 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41046 Q15049 (MLC1) S L 280 rs121908341 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41047 Q15049 (MLC1) L M 309 rs80358240 Benign
41048 Q15049 (MLC1) T K 320 rs281875313 Disease: Leukoencepha lopathy, megalencepha lic, with subcortical cysts, 1 (MLC1) [MIM:604004]
41049 Q15049 (MLC1) N S 344 rs11568188 Benign
41050 Q15050 (RRS1) Q H 116 rs34077648 Benign
41051 Q15050 (RRS1) K R 126 rs3739335 Benign
41052 Q15050 (RRS1) R L 191 rs3739336 Benign
41053 Q15051 (IQCB1) F L 142 rs11926958 Benign
41054 Q15051 (IQCB1) I N 393 rs1141528 Benign
41055 Q15051 (IQCB1) C Y 434 rs17849995 Benign
41056 Q15051 (IQCB1) R C 435 rs11920543 Benign
41057 Q15052 (ARHGEF6) Q H 297 rs5974620 Benign
41058 Q15058 (KIF14) H D 849 rs1553259528 Disease: Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914]
41059 Q15058 (KIF14) G V 1221 - Disease: Microcephaly 20, primary, autosomal recessive (MCPH20) [MIM:617914]
41060 Q15058 (KIF14) P A 1633 rs12120084 Benign
41061 Q15059 (BRD3) A V 172 rs34609592 Benign
41062 Q15059 (BRD3) K Q 435 rs36093130 Benign
41063 Q15059 (BRD3) R H 441 rs56017928 Benign
41064 Q15059 (BRD3) S P 447 rs55754444 Benign
41065 Q15063 (POSTN) T I 339 rs9594223 Benign
41066 Q15063 (POSTN) V M 814 rs9547952 Benign
41067 Q15067 (ACOX1) G S 101 rs3744032 Benign
41068 Q15067 (ACOX1) T I 153 rs17855420 Benign
41069 Q15067 (ACOX1) G C 178 rs118204091 Disease: Adrenoleukod ystrophy, pseudoneonat al (Pseudo- NALD) [MIM:264470]
41070 Q15067 (ACOX1) S L 184 rs780887410 Disease: Adrenoleukod ystrophy, pseudoneonat al (Pseudo- NALD) [MIM:264470]
41071 Q15067 (ACOX1) G V 231 - Disease: Adrenoleukod ystrophy, pseudoneonat al (Pseudo- NALD) [MIM:264470]
41072 Q15067 (ACOX1) M V 278 rs118204090 Disease: Adrenoleukod ystrophy, pseudoneonat al (Pseudo- NALD) [MIM:264470]
41073 Q15067 (ACOX1) Q R 309 rs118204092 Disease: Adrenoleukod ystrophy, pseudoneonat al (Pseudo- NALD) [MIM:264470]
41074 Q15067 (ACOX1) S P 310 rs758962364 Disease: Adrenoleukod ystrophy, pseudoneonat al (Pseudo- NALD) [MIM:264470]
41075 Q15067 (ACOX1) I M 312 rs1135640 Benign
41076 Q15070 (OXA1L) V A 44 rs8572 Benign
41077 Q15070 (OXA1L) V I 91 rs17619 Benign
41078 Q15072 (ZNF146) R K 8 rs2070132 Benign
41079 Q15075 (EEA1) K Q 810 rs10745623 Benign
41080 Q15080 (NCF4) R Q 105 rs387906808 Disease: Granulomatou s disease, chronic, cytochrome-b -positive 3, autosomal recessive (CGD3) [MIM:613960]
41081 Q15080 (NCF4) L I 147 - Benign
41082 Q15080 (NCF4) R H 153 rs35160112 Benign
41083 Q15084 (PDIA6) K R 214 rs4807 Benign
41084 Q15102 (PAFAH1B3) R G 214 rs1043818 Benign
41085 Q15109 (AGER) G S 82 rs2070600 Benign
41086 Q15109 (AGER) Q R 100 - Benign
41087 Q15111 (PLCL1) D N 445 rs45506698 Benign
41088 Q15111 (PLCL1) P S 454 rs45506696 Benign
41089 Q15111 (PLCL1) S F 546 rs45596936 Benign
41090 Q15111 (PLCL1) V I 667 rs1064213 Benign
41091 Q15111 (PLCL1) W C 684 rs6741084 Benign
41092 Q15111 (PLCL1) S N 937 rs45452996 Benign
41093 Q15116 (PDCD1) A V 215 rs2227982 Benign
41094 Q15118 (PDK1) A T 134 rs35661499 Benign
41095 Q15118 (PDK1) N T 412 rs34250425 Benign
41096 Q15120 (PDK3) K T 114 rs146331370 Benign
41097 Q15120 (PDK3) R H 158 rs397515323 Disease: Charcot- Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905]
41098 Q15120 (PDK3) Y S 334 - Benign
41099 Q15125 (EBP) L P 18 rs104894795 Disease: MEND syndrome (MEND) [MIM:300960]
41100 Q15125 (EBP) W C 47 rs587783599 Disease: MEND syndrome (MEND) [MIM:300960]
41101 Q15125 (EBP) W R 47 rs878854359 Disease: MEND syndrome (MEND) [MIM:300960]
41102 Q15125 (EBP) I N 75 rs797045153 Disease: MEND syndrome (MEND) [MIM:300960]
41103 Q15125 (EBP) E K 80 rs104894800 Disease: Chondrodyspl asia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
41104 Q15125 (EBP) E K 103 - Disease: Chondrodyspl asia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
41105 Q15125 (EBP) R Q 110 - Disease: Chondrodyspl asia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
41106 Q15125 (EBP) R G 147 - Disease: Chondrodyspl asia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
41107 Q15125 (EBP) R H 147 rs28935174 Disease: Chondrodyspl asia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
41108 Q15126 (PMVK) V M 125 rs16836525 Benign
41109 Q15131 (CDK10) P L 96 rs55819627 Benign
41110 Q15131 (CDK10) N S 168 rs56340740 Benign
41111 Q15131 (CDK10) R H 342 rs55757604 Benign
41112 Q15131 (CDK10) C Y 358 rs56242003 Benign
41113 Q15139 (PRKD1) S P 225 - Benign
41114 Q15139 (PRKD1) L W 299 rs1057519636 Disease: Congenital heart defects and ectodermal dysplasia (CHDED) [MIM:617364]
41115 Q15139 (PRKD1) K Q 478 rs55852813 Benign
41116 Q15139 (PRKD1) G R 592 rs1057519635 Disease: Congenital heart defects and ectodermal dysplasia (CHDED) [MIM:617364]
41117 Q15139 (PRKD1) P L 679 rs34588699 Benign
41118 Q15139 (PRKD1) R K 825 rs11161065 Benign
41119 Q15139 (PRKD1) H R 891 rs45582934 Benign
41120 Q15147 (PLCB4) A T 21 rs6077510 Benign
41121 Q15147 (PLCB4) N T 329 rs387907179 Disease: Auriculocond ylar syndrome 2 (ARCND2) [MIM:614669]
41122 Q15147 (PLCB4) R C 621 rs397514482 Disease: Auriculocond ylar syndrome 2 (ARCND2) [MIM:614669]
41123 Q15147 (PLCB4) R H 621 rs397514481 Disease: Auriculocond ylar syndrome 2 (ARCND2) [MIM:614669]
41124 Q15147 (PLCB4) Y C 623 rs397514480 Disease: Auriculocond ylar syndrome 2 (ARCND2) [MIM:614669]
41125 Q15147 (PLCB4) N H 650 rs397514483 Disease: Auriculocond ylar syndrome 2 (ARCND2) [MIM:614669]
41126 Q15147 (PLCB4) G S 710 rs6118603 Benign
41127 Q15149 (PLEC) R H 102 rs200335928 Benign
41128 Q15149 (PLEC) A V 641 rs11136336 Benign
41129 Q15149 (PLEC) L V 1321 rs3135109 Benign
41130 Q15149 (PLEC) R Q 1386 rs11136334 Benign
41131 Q15149 (PLEC) H R 1459 rs55895668 Benign
41132 Q15149 (PLEC) R W 2005 rs200543521 Benign
41133 Q15149 (PLEC) R W 2110 rs80338756 Disease: Epidermolysi s bullosa simplex, Ogna type (O-EBS) [MIM:131950]
41134 Q15149 (PLEC) R W 2150 rs34893635 Benign
41135 Q15149 (PLEC) A V 2194 rs7002002 Benign
41136 Q15149 (PLEC) S P 2791 rs7833924 Benign
41137 Q15149 (PLEC) R W 2821 rs35723243 Benign
41138 Q15149 (PLEC) R H 2969 rs6558407 Benign
41139 Q15149 (PLEC) V I 3162 rs35027700 Benign
41140 Q15149 (PLEC) A V 3171 rs35858667 Benign
41141 Q15149 (PLEC) T M 3486 rs34725742 Benign
41142 Q15149 (PLEC) G A 3490 rs35261863 Benign
41143 Q15149 (PLEC) G S 3945 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 17 (LGMDR17) [MIM:613723]
41144 Q15154 (PCM1) N S 159 rs412750 Benign
41145 Q15154 (PCM1) A D 176 rs2285302 Benign
41146 Q15154 (PCM1) M V 597 rs208753 Benign
41147 Q15154 (PCM1) S P 600 rs34325017 Benign
41148 Q15154 (PCM1) A S 691 rs17635381 Benign
41149 Q15154 (PCM1) G V 871 rs7009117 Benign
41150 Q15154 (PCM1) R H 1251 rs17514547 Benign
41151 Q15154 (PCM1) E D 1326 rs34932823 Benign
41152 Q15154 (PCM1) T I 1543 rs370429 Benign
41153 Q15154 (PCM1) K N 1701 rs36113670 Benign
41154 Q15154 (PCM1) N D 1865 rs35789133 Benign
41155 Q15155 (NOMO1) I V 404 rs2561962 Benign
41156 Q15155 (NOMO1) K N 458 rs1345150579 Benign
41157 Q15155 (NOMO1) N D 490 rs1062412 Benign
41158 Q15155 (NOMO1) M V 493 rs141860762 Benign
41159 Q15155 (NOMO1) M V 580 rs17356851 Benign
41160 Q15155 (NOMO1) V A 583 rs17855981 Benign
41161 Q15155 (NOMO1) E K 1081 rs200317822 Benign
41162 Q15155 (NOMO1) I F 1141 rs376397163 Benign
41163 Q15155 (NOMO1) R G 1195 rs9330 Benign
41164 Q15165 (PON2) A G 148 rs12026 Benign
41165 Q15165 (PON2) V L 172 rs17876152 Benign
41166 Q15165 (PON2) S C 311 rs7493 Benign
41167 Q15166 (PON3) E K 146 rs17878827 Benign
41168 Q15166 (PON3) A D 179 rs17883013 Benign
41169 Q15170 (TCEAL1) R C 5 rs34421776 Benign
41170 Q15198 (PDGFRL) H Y 23 rs137853148 Disease: Colorectal cancer (CRC) [MIM:114500]
41171 Q15208 (STK38) D N 145 rs56005153 Benign
41172 Q15208 (STK38) K R 267 rs56105564 Benign
41173 Q15238 (PSG5) L V 18 rs8107936 Benign
41174 Q15238 (PSG5) N K 154 rs1058259 Benign
41175 Q15238 (PSG5) T I 168 rs5013158 Benign
41176 Q15238 (PSG5) R H 227 rs1058285 Benign
41177 Q15256 (PTPRR) Y H 249 rs35987017 Benign
41178 Q15256 (PTPRR) K R 314 rs3803036 Benign
41179 Q15256 (PTPRR) V I 386 rs35387004 Benign
41180 Q15256 (PTPRR) V I 439 rs35390084 Benign
41181 Q15257 (PTPA) K R 28 rs17481693 Benign
41182 Q15257 (PTPA) R Q 208 rs4836639 Benign
41183 Q15257 (PTPA) S L 357 rs2480452 Benign
41184 Q15269 (PWP2) D N 25 rs2020945 Benign
41185 Q15269 (PWP2) E K 174 rs35001460 Benign
41186 Q15269 (PWP2) F I 551 rs17856422 Benign
41187 Q15274 (QPRT) A V 158 rs2303255 Benign
41188 Q15274 (QPRT) T A 195 rs9932770 Benign
41189 Q15276 (RABEP1) E G 640 rs3026099 Benign
41190 Q15293 (RCN1) D Y 73 rs1804281 Benign
41191 Q15303 (ERBB4) R Q 927 rs397514262 Disease: Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515]
41192 Q15303 (ERBB4) R W 1275 rs397514263 Disease: Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515]
41193 Q15311 (RALBP1) A V 617 rs35867116 Benign
41194 Q15319 (POU4F3) D V 64 - Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41195 Q15319 (POU4F3) F Y 194 - Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41196 Q15319 (POU4F3) S L 222 - Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41197 Q15319 (POU4F3) L P 223 rs121909057 Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41198 Q15319 (POU4F3) N Y 240 - Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41199 Q15319 (POU4F3) I V 281 - Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41200 Q15319 (POU4F3) L F 289 rs121909056 Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41201 Q15319 (POU4F3) P L 299 - Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41202 Q15319 (POU4F3) R K 326 rs398123070 Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41203 Q15319 (POU4F3) K E 328 rs1339291105 Disease: Deafness, autosomal dominant, 15 (DFNA15) [MIM:602459]
41204 Q15323 (KRT31) A G 39 rs6503628 Benign
41205 Q15323 (KRT31) A V 82 rs6503627 Benign
41206 Q15323 (KRT31) A V 377 rs34293483 Benign
41207 Q15329 (E2F5) G A 18 rs4150841 Benign
41208 Q15334 (LLGL1) S G 148 rs2290505 Benign
41209 Q15334 (LLGL1) Q H 550 rs1063683 Benign
41210 Q15345 (LRRC41) V I 609 rs11542623 Benign
41211 Q15361 (TTF1) E K 35 rs11550314 Benign
41212 Q15361 (TTF1) A S 290 rs8999 Benign
41213 Q15361 (TTF1) V A 303 rs3739914 Benign
41214 Q15361 (TTF1) G V 360 rs3739915 Benign
41215 Q15361 (TTF1) R Q 401 rs3739916 Benign
41216 Q15361 (TTF1) E K 473 rs12336746 Benign
41217 Q15361 (TTF1) A V 885 rs1752676 Benign
41218 Q15375 (EPHA7) I V 138 rs2278107 Benign
41219 Q15375 (EPHA7) P S 278 rs2278106 Benign
41220 Q15388 (TOMM20) P L 117 rs16991984 Benign
41221 Q15388 (TOMM20) V L 134 rs1049510 Benign
41222 Q15389 (ANGPT1) L P 247 rs73701083 Benign
41223 Q15392 (DHCR24) R H 94 rs387906939 Disease: Desmosterolo sis (DESMOS) [MIM:602398]
41224 Q15392 (DHCR24) E K 191 rs119475041 Disease: Desmosterolo sis (DESMOS) [MIM:602398]
41225 Q15392 (DHCR24) N T 294 rs281797257 Disease: Desmosterolo sis (DESMOS) [MIM:602398]
41226 Q15392 (DHCR24) K N 306 rs281797256 Disease: Desmosterolo sis (DESMOS) [MIM:602398]
41227 Q15392 (DHCR24) Y S 471 rs28939092 Disease: Desmosterolo sis (DESMOS) [MIM:602398]
41228 Q15392 (DHCR24) E K 480 rs387906940 Disease: Desmosterolo sis (DESMOS) [MIM:602398]
41229 Q15393 (SF3B3) G R 908 rs11551673 Benign
41230 Q15397 (PUM3) S N 13 rs10968457 Benign
41231 Q15397 (PUM3) I V 264 rs35869387 Benign
41232 Q15397 (PUM3) R P 289 rs2173904 Benign
41233 Q15397 (PUM3) V L 297 rs2270891 Benign
41234 Q15397 (PUM3) T S 414 rs3736390 Benign
41235 Q15397 (PUM3) R Q 480 rs2270889 Benign
41236 Q15398 (DLGAP5) G E 69 rs2274271 Benign
41237 Q15398 (DLGAP5) Q H 324 rs8010791 Benign
41238 Q15398 (DLGAP5) T I 469 rs17128275 Benign
41239 Q15398 (DLGAP5) E Q 753 rs35954941 Benign
41240 Q15399 (TLR1) S P 44 rs76600635 Benign
41241 Q15399 (TLR1) I T 75 rs137853170 Benign
41242 Q15399 (TLR1) R T 80 rs5743611 Benign
41243 Q15399 (TLR1) H Y 118 rs5743612 Benign
41244 Q15399 (TLR1) N S 248 rs4833095 Benign
41245 Q15399 (TLR1) H L 305 rs3923647 Benign
41246 Q15399 (TLR1) P L 315 rs5743613 Benign
41247 Q15399 (TLR1) H N 352 rs76796448 Benign
41248 Q15399 (TLR1) I V 460 rs137853171 Benign
41249 Q15399 (TLR1) V A 542 rs137853172 Benign
41250 Q15399 (TLR1) Y C 554 rs137853173 Benign
41251 Q15399 (TLR1) V G 587 rs5743617 Benign
41252 Q15399 (TLR1) S I 602 rs5743618 Benign
41253 Q15399 (TLR1) L R 631 rs5743619 Benign
41254 Q15399 (TLR1) V A 651 rs137853174 Benign
41255 Q15399 (TLR1) V A 674 - Benign
41256 Q15399 (TLR1) H P 720 rs113706342 Benign
41257 Q15399 (TLR1) P L 733 rs5743621 Benign
41258 Q15413 (RYR3) R S 261 - Benign
41259 Q15413 (RYR3) I T 358 rs2304380 Benign
41260 Q15413 (RYR3) V I 494 rs2077268 Benign
41261 Q15413 (RYR3) Y C 693 - Benign
41262 Q15413 (RYR3) I V 731 rs2229116 Benign
41263 Q15413 (RYR3) E G 1380 - Benign
41264 Q15418 (RPS6KA1) K T 335 rs2229712 Benign
41265 Q15431 (SYCP1) E D 78 rs12563933 Benign
41266 Q15431 (SYCP1) E D 805 rs1053812 Benign
41267 Q15436 (SEC23A) L V 211 rs8018720 Benign
41268 Q15436 (SEC23A) F L 382 rs118204000 Disease: Craniolentic ulosutural dysplasia (CLSD) [MIM:607812]
41269 Q15437 (SEC23B) R W 14 rs121918222 Disease: Anemia, congenital dyserythropo ietic, 2 (CDAN2) [MIM:224100]
41270 Q15437 (SEC23B) R H 18 rs905074313 Benign
41271 Q15437 (SEC23B) E K 109 rs121918221 Disease: Anemia, congenital dyserythropo ietic, 2 (CDAN2) [MIM:224100]
41272 Q15437 (SEC23B) D G 239 rs761034212 Benign
41273 Q15437 (SEC23B) R H 313 rs750888081 Benign
41274 Q15437 (SEC23B) I T 318 rs953079477 Benign
41275 Q15437 (SEC23B) D A 348 - Disease: Anemia, congenital dyserythropo ietic, 2 (CDAN2) [MIM:224100]
41276 Q15437 (SEC23B) M V 373 rs17849992 Benign
41277 Q15437 (SEC23B) Q R 386 - Benign
41278 Q15437 (SEC23B) V I 426 rs41309927 Benign
41279 Q15437 (SEC23B) P L 433 rs17807673 Benign
41280 Q15437 (SEC23B) Y C 462 rs780978419 Benign
41281 Q15437 (SEC23B) H Q 489 rs2273526 Benign
41282 Q15437 (SEC23B) A V 524 rs398124225 Benign
41283 Q15437 (SEC23B) R W 530 rs121918223 Disease: Anemia, congenital dyserythropo ietic, 2 (CDAN2) [MIM:224100]
41284 Q15437 (SEC23B) V G 594 rs752366963 Disease: Cowden syndrome 7 (CWS7) [MIM:616858]
41285 Q15437 (SEC23B) S L 603 - Disease: Anemia, congenital dyserythropo ietic, 2 (CDAN2) [MIM:224100]
41286 Q15437 (SEC23B) R C 701 rs201270568 Disease: Anemia, congenital dyserythropo ietic, 2 (CDAN2) [MIM:224100]
41287 Q15465 (SHH) R T 6 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41288 Q15465 (SHH) L P 17 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41289 Q15465 (SHH) P L 26 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41290 Q15465 (SHH) G A 27 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41291 Q15465 (SHH) G R 31 rs28936675 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41292 Q15465 (SHH) L P 39 rs1428916820 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41293 Q15465 (SHH) E K 53 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41294 Q15465 (SHH) D V 83 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41295 Q15465 (SHH) I F 84 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41296 Q15465 (SHH) D V 88 rs104894050 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41297 Q15465 (SHH) Q H 100 rs587778792 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41298 Q15465 (SHH) C R 102 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41299 Q15465 (SHH) C Y 102 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41300 Q15465 (SHH) L F 109 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41301 Q15465 (SHH) A D 110 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41302 Q15465 (SHH) A T 110 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41303 Q15465 (SHH) I F 111 rs104894049 Disease: Solitary median maxillary central incisor (SMMCI) [MIM:147250]
41304 Q15465 (SHH) I N 111 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41305 Q15465 (SHH) N K 115 rs267607047 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41306 Q15465 (SHH) W G 117 rs104894040 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41307 Q15465 (SHH) W R 117 rs104894040 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41308 Q15465 (SHH) V M 124 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41309 Q15465 (SHH) E K 136 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41310 Q15465 (SHH) H P 140 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41311 Q15465 (SHH) H Q 140 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41312 Q15465 (SHH) G D 143 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41313 Q15465 (SHH) R P 144 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41314 Q15465 (SHH) D N 147 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41315 Q15465 (SHH) T K 150 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41316 Q15465 (SHH) T R 150 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41317 Q15465 (SHH) S R 156 rs1554494372 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41318 Q15465 (SHH) F C 170 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41319 Q15465 (SHH) D H 171 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41320 Q15465 (SHH) C F 183 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41321 Q15465 (SHH) C R 183 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41322 Q15465 (SHH) C Y 183 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41323 Q15465 (SHH) S L 184 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41324 Q15465 (SHH) E Q 188 rs587778799 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41325 Q15465 (SHH) G E 196 rs752650571 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41326 Q15465 (SHH) G V 197 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41327 Q15465 (SHH) C F 198 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41328 Q15465 (SHH) C S 198 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41329 Q15465 (SHH) L P 218 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41330 Q15465 (SHH) D N 222 rs587778805 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41331 Q15465 (SHH) V E 224 rs104894042 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41332 Q15465 (SHH) A T 226 rs104894043 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41333 Q15465 (SHH) G V 231 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41334 Q15465 (SHH) R G 232 rs1347054935 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41335 Q15465 (SHH) L P 234 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41336 Q15465 (SHH) S N 236 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41337 Q15465 (SHH) S R 236 rs587778806 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41338 Q15465 (SHH) F L 241 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41339 Q15465 (SHH) F V 241 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41340 Q15465 (SHH) I N 255 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41341 Q15465 (SHH) T I 267 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41342 Q15465 (SHH) L P 271 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41343 Q15465 (SHH) A E 275 rs556192490 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41344 Q15465 (SHH) S W 280 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41345 Q15465 (SHH) G D 290 rs104894047 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41346 Q15465 (SHH) R C 310 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41347 Q15465 (SHH) R S 321 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41348 Q15465 (SHH) V A 332 rs104894052 Disease: Solitary median maxillary central incisor (SMMCI) [MIM:147250]
41349 Q15465 (SHH) A V 346 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41350 Q15465 (SHH) P L 347 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41351 Q15465 (SHH) P Q 347 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41352 Q15465 (SHH) P R 347 rs886042458 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41353 Q15465 (SHH) I T 354 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41354 Q15465 (SHH) S L 362 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41355 Q15465 (SHH) C Y 363 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41356 Q15465 (SHH) Y C 364 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41357 Q15465 (SHH) A T 373 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41358 Q15465 (SHH) H R 374 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41359 Q15465 (SHH) A D 376 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41360 Q15465 (SHH) F S 377 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41361 Q15465 (SHH) R P 381 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41362 Q15465 (SHH) L P 382 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41363 Q15465 (SHH) A T 383 rs137853341 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41364 Q15465 (SHH) P A 424 rs104894048 Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41365 Q15465 (SHH) Y N 435 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41366 Q15465 (SHH) S L 436 - Disease: Holoprosence phaly 3 (HPE3) [MIM:142945]
41367 Q15466 (NR0B2) R W 57 rs777291973 Benign
41368 Q15466 (NR0B2) G A 171 rs6659176 Benign
41369 Q15466 (NR0B2) G E 189 rs202154574 Benign
41370 Q15466 (NR0B2) A S 195 rs74315350 Benign
41371 Q15466 (NR0B2) R C 213 rs199976415 Benign
41372 Q15466 (NR0B2) R H 216 rs200475847 Benign
41373 Q15468 (STIL) A V 86 rs3125630 Benign
41374 Q15468 (STIL) L W 798 rs398122976 Disease: Microcephaly 7, primary, autosomal recessive (MCPH7) [MIM:612703]
41375 Q15468 (STIL) H R 984 rs13376679 Benign
41376 Q15468 (STIL) P R 1012 - Benign
41377 Q15468 (STIL) A V 1145 rs3766317 Benign
41378 Q15475 (SIX1) V E 17 rs397515562 Disease: Branchiootic syndrome 3 (BOS3) [MIM:608389]
41379 Q15475 (SIX1) H P 73 - Disease: Branchiootic syndrome 3 (BOS3) [MIM:608389]
41380 Q15475 (SIX1) R C 99 rs17850414 Benign
41381 Q15475 (SIX1) V G 106 rs397515560 Disease: Branchiootic syndrome 3 (BOS3) [MIM:608389]
41382 Q15475 (SIX1) R Q 110 rs1064794308 Disease: Branchiootic syndrome 3 (BOS3) [MIM:608389]
41383 Q15475 (SIX1) R W 110 rs80356459 Disease: Branchiootic syndrome 3 (BOS3) [MIM:608389]
41384 Q15475 (SIX1) R C 112 rs397515561 Disease: Branchiootic syndrome 3 (BOS3) [MIM:608389]
41385 Q15475 (SIX1) W R 122 rs121909770 Disease: Branchiootic syndrome 3 (BOS3) [MIM:608389]
41386 Q15475 (SIX1) Y C 129 rs104894478 Disease: Branchiootic syndrome 3 (BOS3) [MIM:608389]
41387 Q15477 (SKIV2L) Q R 151 rs438999 Benign
41388 Q15477 (SKIV2L) M L 214 rs437179 Benign
41389 Q15477 (SKIV2L) R W 324 rs36038685 Benign
41390 Q15477 (SKIV2L) V G 341 rs281875237 Disease: Trichohepato enteric syndrome 2 (THES2) [MIM:614602]
41391 Q15477 (SKIV2L) D N 887 rs3911893 Benign
41392 Q15477 (SKIV2L) V M 917 rs106287 Benign
41393 Q15477 (SKIV2L) A V 1071 rs449643 Benign
41394 Q15477 (SKIV2L) G R 1153 rs2734329 Benign
41395 Q15477 (SKIV2L) V G 1238 rs2746400 Benign
41396 Q15485 (FCN2) H Y 113 rs17549179 Benign
41397 Q15485 (FCN2) G S 117 rs12684476 Benign
41398 Q15485 (FCN2) T M 236 rs17549193 Benign
41399 Q15485 (FCN2) A S 258 rs7851696 Benign
41400 Q15517 (CDSN) M L 18 rs3095318 Benign
41401 Q15517 (CDSN) L F 56 rs7742033 Benign
41402 Q15517 (CDSN) N S 143 rs3130984 Benign
41403 Q15517 (CDSN) G S 145 rs6457328 Benign
41404 Q15517 (CDSN) S N 150 rs1184132826 Benign
41405 Q15517 (CDSN) S F 202 rs707913 Benign
41406 Q15517 (CDSN) S G 401 rs33941312 Benign
41407 Q15517 (CDSN) S A 408 rs1042127 Benign
41408 Q15517 (CDSN) S L 410 rs3132554 Benign
41409 Q15517 (CDSN) D N 527 rs3130981 Benign
41410 Q15526 (SURF1) A G 56 rs116779216 Benign
41411 Q15526 (SURF1) L P 90 rs782024654 Disease: Leigh syndrome (LS) [MIM:256000]
41412 Q15526 (SURF1) G E 124 rs28933402 Disease: Leigh syndrome (LS) [MIM:256000]
41413 Q15526 (SURF1) G R 124 rs782033035 Disease: Leigh syndrome (LS) [MIM:256000]
41414 Q15526 (SURF1) V G 177 - Disease: Leigh syndrome (LS) [MIM:256000]
41415 Q15526 (SURF1) D H 202 rs72619327 Benign
41416 Q15526 (SURF1) G E 205 - Disease: Leigh syndrome (LS) [MIM:256000]
41417 Q15526 (SURF1) M T 235 rs1319811735 Disease: Leigh syndrome (LS) [MIM:256000]
41418 Q15526 (SURF1) I T 246 - Disease: Leigh syndrome (LS) [MIM:256000]
41419 Q15526 (SURF1) A D 248 - Disease: Leigh syndrome (LS) [MIM:256000]
41420 Q15526 (SURF1) G R 257 - Disease: Leigh syndrome (LS) [MIM:256000]
41421 Q15526 (SURF1) G V 257 rs1030336089 Disease: Leigh syndrome (LS) [MIM:256000]
41422 Q15526 (SURF1) Y D 274 rs121918658 Disease: Leigh syndrome (LS) [MIM:256000]
41423 Q15527 (SURF2) S G 213 rs12763 Benign
41424 Q15527 (SURF2) R Q 221 rs7863933 Benign
41425 Q15542 (TAF5) S A 130 rs10883859 Benign
41426 Q15543 (TAF13) L H 31 rs1060505030 Disease: Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432]
41427 Q15543 (TAF13) M K 40 rs1060505029 Disease: Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432]
41428 Q15544 (TAF11) T R 68 rs15922 Benign
41429 Q15544 (TAF11) S F 155 rs11537996 Benign
41430 Q15545 (TAF7) S R 178 - Benign
41431 Q15554 (TERF2) S G 455 rs35874485 Benign
41432 Q15555 (MAPRE2) N S 68 rs864309719 Disease: Skin creases, congenital symmetric circumferent ial, 2 (CSCSC2) [MIM:616734]
41433 Q15555 (MAPRE2) Y C 87 rs864309717 Disease: Skin creases, congenital symmetric circumferent ial, 2 (CSCSC2) [MIM:616734]
41434 Q15555 (MAPRE2) R C 143 rs864309720 Disease: Skin creases, congenital symmetric circumferent ial, 2 (CSCSC2) [MIM:616734]
41435 Q15555 (MAPRE2) Y C 162 rs11538993 Benign
41436 Q15561 (TEAD4) P S 323 rs11550887 Benign
41437 Q15569 (TESK1) G S 574 rs55673450 Benign
41438 Q15572 (TAF1C) C Y 91 rs4782591 Benign
41439 Q15572 (TAF1C) S F 304 rs4150145 Benign
41440 Q15572 (TAF1C) R H 357 rs4150147 Benign
41441 Q15572 (TAF1C) S L 387 rs4150151 Benign
41442 Q15572 (TAF1C) H Y 518 rs4150165 Benign
41443 Q15572 (TAF1C) G R 523 rs4150167 Benign
41444 Q15572 (TAF1C) P L 573 rs4150170 Benign
41445 Q15572 (TAF1C) L M 575 rs2230129 Benign
41446 Q15572 (TAF1C) A G 591 rs4150172 Benign
41447 Q15572 (TAF1C) G S 635 rs4150173 Benign
41448 Q15572 (TAF1C) T M 791 rs4150175 Benign
41449 Q15572 (TAF1C) P L 793 rs2230131 Benign
41450 Q15572 (TAF1C) P S 808 rs3743640 Benign
41451 Q15572 (TAF1C) R H 816 rs4150176 Benign
41452 Q15573 (TAF1A) I M 98 rs17163271 Benign
41453 Q15582 (TGFBI) V I 113 rs757933370 Benign
41454 Q15582 (TGFBI) D H 123 rs541270955 Benign
41455 Q15582 (TGFBI) R C 124 rs121909210 Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41456 Q15582 (TGFBI) R H 124 rs121909211 Disease: Corneal dystrophy, Avellino type (CDA) [MIM:607541]
41457 Q15582 (TGFBI) R L 124 rs121909211 Disease: Corneal dystrophy, Reis- Bucklers type (CDRB) [MIM:608470]
41458 Q15582 (TGFBI) R S 124 rs121909210 Disease: Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]
41459 Q15582 (TGFBI) I F 200 rs45455404 Benign
41460 Q15582 (TGFBI) L F 269 rs199852470 Benign
41461 Q15582 (TGFBI) R G 496 rs10057190 Benign
41462 Q15582 (TGFBI) P T 501 rs121909212 Disease: Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]
41463 Q15582 (TGFBI) V D 505 - Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41464 Q15582 (TGFBI) L R 509 rs121909216 Disease: Corneal dystrophy, epithelial basement membrane (EBMD) [MIM:121820]
41465 Q15582 (TGFBI) L P 518 - Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41466 Q15582 (TGFBI) L R 518 - Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41467 Q15582 (TGFBI) L R 527 rs1050842080 Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41468 Q15582 (TGFBI) T R 538 - Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41469 Q15582 (TGFBI) V D 539 rs1382893670 Benign
41470 Q15582 (TGFBI) F S 540 rs121909214 Disease: Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]
41471 Q15582 (TGFBI) N S 544 rs777288957 Benign
41472 Q15582 (TGFBI) A D 546 rs267607109 Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41473 Q15582 (TGFBI) A T 546 - Disease: Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]
41474 Q15582 (TGFBI) P Q 551 rs267607110 Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41475 Q15582 (TGFBI) R Q 555 rs121909209 Disease: Corneal dystrophy, Thiel-Behnke type (CDTB) [MIM:602082]
41476 Q15582 (TGFBI) R W 555 rs121909208 Disease: Corneal dystrophy, Groenouw type 1 (CDGG1) [MIM:121900]
41477 Q15582 (TGFBI) L R 569 - Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41478 Q15582 (TGFBI) H R 572 - Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41479 Q15582 (TGFBI) N K 622 - Disease: Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471]
41480 Q15582 (TGFBI) G D 623 rs121909215 Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41481 Q15582 (TGFBI) H P 626 - Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41482 Q15582 (TGFBI) H R 626 rs1052006472 Disease: Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200]
41483 Q15583 (TGIF1) S C 157 rs121909066 Disease: Holoprosence phaly 4 (HPE4) [MIM:142946]
41484 Q15583 (TGIF1) P R 192 rs121909067 Disease: Holoprosence phaly 4 (HPE4) [MIM:142946]
41485 Q15583 (TGIF1) Q L 236 rs28939693 Disease: Holoprosence phaly 4 (HPE4) [MIM:142946]
41486 Q15583 (TGIF1) T A 280 rs121909068 Disease: Holoprosence phaly 4 (HPE4) [MIM:142946]
41487 Q15583 (TGIF1) P S 289 rs11571512 Benign
41488 Q15583 (TGIF1) S F 291 rs121909069 Disease: Holoprosence phaly 4 (HPE4) [MIM:142946]
41489 Q15583 (TGIF1) P L 292 rs2229333 Benign
41490 Q15583 (TGIF1) P S 292 rs4468717 Benign
41491 Q15596 (NCOA2) M I 1282 rs2228591 Benign
41492 Q155Q3 (DIXDC1) K R 300 rs34575249 Benign
41493 Q15612 (OR1Q1) Q R 24 rs972925 Benign
41494 Q15612 (OR1Q1) I M 163 rs1329957 Benign
41495 Q15612 (OR1Q1) T A 240 rs727913 Benign
41496 Q15615 (OR4D1) R Q 54 rs12602205 Benign
41497 Q15615 (OR4D1) L I 174 rs7218964 Benign
41498 Q15617 (OR8G1) A V 247 rs4482039 Benign
41499 Q15619 (OR1C1) T M 209 rs12068080 Benign
41500 Q15633 (TARBP2) S F 251 rs1126500 Benign
41501 Q15637 (SF1) S T 357 - Benign
41502 Q15643 (TRIP11) M L 39 rs17127898 Benign
41503 Q15643 (TRIP11) D Y 410 - Disease: Odontochondr odysplasia (ODCD) [MIM:184260]
41504 Q15643 (TRIP11) E A 506 rs2273186 Benign
41505 Q15643 (TRIP11) V A 559 - Benign
41506 Q15643 (TRIP11) V L 795 rs34699762 Benign
41507 Q15643 (TRIP11) D G 884 rs34967261 Benign
41508 Q15643 (TRIP11) I V 1040 rs34805848 Benign
41509 Q15643 (TRIP11) E D 1107 rs4619320 Benign
41510 Q15643 (TRIP11) D A 1413 rs12884523 Benign
41511 Q15643 (TRIP11) M V 1503 rs34839498 Benign
41512 Q15643 (TRIP11) R H 1576 rs35007347 Benign
41513 Q15643 (TRIP11) E A 1749 rs2273183 Benign
41514 Q15643 (TRIP11) R K 1752 rs11851376 Benign
41515 Q15643 (TRIP11) M V 1806 - Disease: Odontochondr odysplasia (ODCD) [MIM:184260]
41516 Q15643 (TRIP11) G S 1827 rs1051340 Benign
41517 Q15643 (TRIP11) T I 1846 rs141259390 Benign
41518 Q15646 (OASL) N I 341 rs35249920 Benign
41519 Q15648 (MED1) P T 753 rs1139825 Benign
41520 Q15648 (MED1) S G 1240 rs35668211 Benign
41521 Q15649 (ZNHIT3) S L 31 rs148890852 Disease: PEHO syndrome (PEHO) [MIM:260565]
41522 Q15652 (JMJD1C) A T 272 rs34798625 Benign
41523 Q15652 (JMJD1C) E D 394 rs35380596 Benign
41524 Q15652 (JMJD1C) S T 464 rs10761725 Benign
41525 Q15652 (JMJD1C) M V 591 rs41274072 Benign
41526 Q15652 (JMJD1C) N Y 1393 rs9703886 Benign
41527 Q15652 (JMJD1C) D E 2400 rs34491125 Benign
41528 Q15652 (JMJD1C) E D 2535 rs1935 Benign
41529 Q15653 (NFKBIB) R W 339 rs17886215 Benign
41530 Q15654 (TRIP6) R Q 111 rs2437100 Benign
41531 Q15654 (TRIP6) V I 230 rs2075756 Benign
41532 Q15654 (TRIP6) L F 296 rs17855370 Benign
41533 Q15661 (TPSAB1) N S 3 rs371929937 Benign
41534 Q15661 (TPSAB1) R P 15 rs761476435 Benign
41535 Q15661 (TPSAB1) A V 18 rs562518617 Benign
41536 Q15661 (TPSAB1) G V 23 rs141519544 Benign
41537 Q15661 (TPSAB1) R Q 28 rs146223687 Benign
41538 Q15661 (TPSAB1) V A 29 rs112944038 Benign
41539 Q15661 (TPSAB1) H R 51 rs1060281 Benign
41540 Q15661 (TPSAB1) G D 52 rs17841227 Benign
41541 Q15661 (TPSAB1) P R 53 rs17841226 Benign
41542 Q15661 (TPSAB1) V L 76 rs151324823 Benign
41543 Q15661 (TPSAB1) A T 85 rs201351744 Benign
41544 Q15661 (TPSAB1) T I 115 rs199625169 Benign
41545 Q15661 (TPSAB1) A I 116 - Benign
41546 Q15661 (TPSAB1) I T 118 rs202044288 Benign
41547 Q15661 (TPSAB1) N K 132 rs144979264 Benign
41548 Q15661 (TPSAB1) V I 133 rs200334042 Benign
41549 Q15661 (TPSAB1) H R 136 rs1064780 Benign
41550 Q15661 (TPSAB1) T A 141 rs1800992 Benign
41551 Q15661 (TPSAB1) T M 141 - Benign
41552 Q15661 (TPSAB1) D N 162 rs143210825 Benign
41553 Q15661 (TPSAB1) R P 168 rs202156919 Benign
41554 Q15661 (TPSAB1) P S 170 rs201345428 Benign
41555 Q15661 (TPSAB1) V I 205 rs1060284 Benign
41556 Q15661 (TPSAB1) T S 215 rs2234905 Benign
41557 Q15661 (TPSAB1) R Q 216 rs2234906 Benign
41558 Q15661 (TPSAB1) Q K 221 rs201192435 Benign
41559 Q15661 (TPSAB1) G D 245 rs145402040 Benign
41560 Q15661 (TPSAB1) Y N 263 rs200355084 Benign
41561 Q15672 (TWIST1) S G 95 rs575299986 Benign
41562 Q15672 (TWIST1) E G 117 - Disease: Sweeney-Cox syndrome (SWCOS) [MIM:617746]
41563 Q15672 (TWIST1) E V 117 rs1554442016 Disease: Sweeney-Cox syndrome (SWCOS) [MIM:617746]
41564 Q15672 (TWIST1) Q P 119 rs104894057 Disease: Saethre- Chotzen syndrome (SCS) [MIM:101400]
41565 Q15672 (TWIST1) L P 131 rs121909189 Disease: Saethre- Chotzen syndrome (SCS) [MIM:101400]
41566 Q15672 (TWIST1) I V 156 rs104894059 Disease: Saethre- Chotzen syndrome (SCS) [MIM:101400]
41567 Q15672 (TWIST1) A T 186 rs121909190 Disease: Craniosynost osis 1 (CRS1) [MIM:123100]
41568 Q15672 (TWIST1) S L 188 rs121909191 Disease: Craniosynost osis 1 (CRS1) [MIM:123100]
41569 Q15678 (PTPN14) V F 505 rs12239356 Benign
41570 Q15714 (TSC22D1) P S 652 rs9525983 Benign
41571 Q15722 (LTB4R) L F 346 rs17849864 Benign
41572 Q15726 (KISS1) E K 20 rs12998 Benign
41573 Q15726 (KISS1) Q R 36 rs35431622 Benign
41574 Q15726 (KISS1) P R 81 rs4889 Benign
41575 Q15726 (KISS1) N K 115 - Disease: Hypogonadotr opic hypogonadism 13 with or without anosmia (HH13) [MIM:614842]
41576 Q15735 (INPP5J) S I 333 rs12485025 Benign
41577 Q15738 (NSDHL) A V 105 rs104894909 Disease: Congenital hemidysplasi a with ichthyosifor m erythroderma and limb defects (CHILD) [MIM:308050]
41578 Q15738 (NSDHL) A P 182 rs104894904 Disease: Congenital hemidysplasi a with ichthyosifor m erythroderma and limb defects (CHILD) [MIM:308050]
41579 Q15738 (NSDHL) G S 205 rs104894901 Disease: Congenital hemidysplasi a with ichthyosifor m erythroderma and limb defects (CHILD) [MIM:308050]
41580 Q15743 (GPR68) R Q 53 rs2230339 Benign
41581 Q15743 (GPR68) L P 74 rs1057517672 Disease: Amelogenesis imperfecta, hypomaturati on type, 2A6 (AI2A6) [MIM:617217]
41582 Q15746 (MYLK) P H 21 rs28497577 Benign
41583 Q15746 (MYLK) A V 128 rs143896146 Benign
41584 Q15746 (MYLK) Q H 133 rs140148380 Benign
41585 Q15746 (MYLK) P R 160 rs111256888 Benign
41586 Q15746 (MYLK) V A 261 rs3796164 Benign
41587 Q15746 (MYLK) T A 276 rs55846245 Benign
41588 Q15746 (MYLK) P L 336 rs35912339 Benign
41589 Q15746 (MYLK) R H 378 rs56378658 Benign
41590 Q15746 (MYLK) M V 405 rs35436690 Benign
41591 Q15746 (MYLK) P S 443 rs35156360 Benign
41592 Q15746 (MYLK) R G 607 - Benign
41593 Q15746 (MYLK) P A 652 rs750686734 Benign
41594 Q15746 (MYLK) W C 656 rs138172035 Benign
41595 Q15746 (MYLK) T M 692 rs776858093 Benign
41596 Q15746 (MYLK) A T 701 rs142835596 Benign
41597 Q15746 (MYLK) V M 709 rs112537316 Benign
41598 Q15746 (MYLK) R C 845 rs3732485 Benign
41599 Q15746 (MYLK) L P 861 rs3732486 Benign
41600 Q15746 (MYLK) V M 877 rs34542174 Benign
41601 Q15746 (MYLK) D E 914 rs3732487 Benign
41602 Q15746 (MYLK) T A 1085 rs75370906 Benign
41603 Q15746 (MYLK) E K 1399 rs181663420 Benign
41604 Q15746 (MYLK) A S 1491 - Disease: Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]
41605 Q15746 (MYLK) A V 1527 rs34982967 Benign
41606 Q15746 (MYLK) A T 1754 - Disease: Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]
41607 Q15746 (MYLK) S P 1759 rs387906781 Disease: Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]
41608 Q15750 (TAB1) D E 224 rs17001096 Benign
41609 Q15751 (HERC1) L F 1088 rs1063423 Benign
41610 Q15751 (HERC1) L F 1278 rs3764187 Benign
41611 Q15751 (HERC1) G V 1411 rs36089909 Benign
41612 Q15751 (HERC1) H N 1447 rs7162519 Benign
41613 Q15751 (HERC1) S A 1572 rs16947363 Benign
41614 Q15751 (HERC1) G A 1696 rs2255243 Benign
41615 Q15751 (HERC1) T A 1995 rs2228512 Benign
41616 Q15751 (HERC1) I V 2220 rs2228510 Benign
41617 Q15751 (HERC1) A T 2816 rs35122568 Benign
41618 Q15751 (HERC1) S F 3152 rs2228513 Benign
41619 Q15751 (HERC1) G R 3517 rs7182782 Benign
41620 Q15751 (HERC1) E D 3722 rs2229749 Benign
41621 Q15751 (HERC1) I V 4394 rs2228516 Benign
41622 Q15751 (HERC1) G E 4520 rs769677823 Disease: Macrocephaly , dysmorphic facies, and psychomotor retardation (MDFPMR) [MIM:617011]
41623 Q15758 (SLC1A5) P A 17 rs3027956 Benign
41624 Q15758 (SLC1A5) V L 512 rs3027961 Benign
41625 Q15759 (MAPK11) R H 275 rs33932986 Benign
41626 Q15760 (GPR19) V I 189 rs4763862 Benign
41627 Q15762 (CD226) S G 307 rs763361 Benign
41628 Q15768 (EFNB3) R Q 166 - Benign
41629 Q15772 (SPEG) R H 206 rs55821435 Benign
41630 Q15772 (SPEG) R C 934 rs34398769 Benign
41631 Q15772 (SPEG) R Q 966 rs34861443 Benign
41632 Q15772 (SPEG) P L 1103 rs56334571 Benign
41633 Q15772 (SPEG) A V 1135 rs55670811 Benign
41634 Q15772 (SPEG) R W 1234 rs55916864 Benign
41635 Q15772 (SPEG) R Q 1340 rs34994343 Benign
41636 Q15772 (SPEG) R C 1621 rs55646900 Benign
41637 Q15772 (SPEG) P L 2189 rs10755037 Benign
41638 Q15772 (SPEG) P T 2687 rs13026308 Benign
41639 Q15772 (SPEG) G V 2757 rs587777676 Disease: Myopathy, centronuclea r, 5 (CNM5) [MIM:615959]
41640 Q15772 (SPEG) H R 3079 rs12464085 Benign
41641 Q15776 (ZKSCAN8) P L 163 rs62620225 Benign
41642 Q15777 (MPPED2) H R 67 rs11556749 Benign
41643 Q15782 (CHI3L2) A V 182 rs11556868 Benign
41644 Q15782 (CHI3L2) V I 184 rs34049547 Benign
41645 Q15782 (CHI3L2) R W 318 rs13721 Benign
41646 Q15784 (NEUROD2) E Q 130 - Disease: Epileptic encephalopat hy, early infantile, 72 (EIEE72) [MIM:618374]
41647 Q15784 (NEUROD2) M T 134 - Disease: Epileptic encephalopat hy, early infantile, 72 (EIEE72) [MIM:618374]
41648 Q15785 (TOMM34) R K 293 rs6094061 Benign
41649 Q15788 (NCOA1) Q K 457 rs1049015 Benign
41650 Q15788 (NCOA1) N K 466 rs1049016 Benign
41651 Q15788 (NCOA1) S P 474 rs1049018 Benign
41652 Q15788 (NCOA1) I T 591 rs1049020 Benign
41653 Q15788 (NCOA1) E A 685 rs1049021 Benign
41654 Q15788 (NCOA1) P A 794 rs1049025 Benign
41655 Q15788 (NCOA1) S F 999 rs1049032 Benign
41656 Q15788 (NCOA1) M T 1154 rs1049038 Benign
41657 Q15788 (NCOA1) V I 1238 rs56099330 Benign
41658 Q15788 (NCOA1) P S 1272 rs1804645 Benign
41659 Q15800 (MSMO1) N S 124 rs34499452 Benign
41660 Q15800 (MSMO1) H Q 173 rs869025576 Disease: Microcephaly , congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834]
41661 Q15800 (MSMO1) Y C 244 rs760048191 Disease: Microcephaly , congenital cataract, and psoriasiform dermatitis (MCCPD) [MIM:616834]
41662 Q15811 (ITSN1) S N 1137 rs187895245 Benign
41663 Q15813 (TBCE) I N 155 rs780472451 Disease: Encephalopat hy, progressive, with amyotrophy and optic atrophy (PEAMO) [MIM:617207]
41664 Q15813 (TBCE) V A 205 rs16832611 Benign
41665 Q15813 (TBCE) S T 333 rs35579976 Benign
41666 Q15813 (TBCE) E G 409 rs16832619 Benign
41667 Q15814 (TBCC) V A 65 rs2234026 Benign
41668 Q15814 (TBCC) E D 86 rs144361927 Benign
41669 Q15814 (TBCC) G D 157 rs7742995 Benign
41670 Q15814 (TBCC) P S 169 rs2234027 Benign
41671 Q15814 (TBCC) P S 180 rs2234028 Benign
41672 Q15814 (TBCC) A T 279 rs12175072 Benign
41673 Q15819 (UBE2V2) E G 36 rs11557776 Benign
41674 Q15819 (UBE2V2) P Q 78 rs11557786 Benign
41675 Q15822 (CHRNA2) T I 22 rs2472553 Benign
41676 Q15822 (CHRNA2) T A 125 rs891398 Benign
41677 Q15822 (CHRNA2) I N 279 rs104894063 Disease: Epilepsy, nocturnal frontal lobe, 4 (ENFL4) [MIM:610353]
41678 Q15825 (CHRNA6) N S 447 rs16891583 Benign
41679 Q15831 (STK11) E G 16 - Disease: Peutz- Jeghers syndrome (PJS) [MIM:175200]
41680 Q15831 (STK11) L P 67 rs137853077 Disease: Peutz- Jeghers syndrome (PJS) [MIM:175200]
41681 Q15831 (STK11) G D 163 rs137853078 Disease: Testicular germ cell tumor (TGCT) [MIM:273300]
41682 Q15831 (STK11) D N 176 rs730881979 Disease: Peutz- Jeghers syndrome (PJS) [MIM:175200]
41683 Q15831 (STK11) D N 194 rs121913315 Disease: Peutz- Jeghers syndrome (PJS) [MIM:175200]
41684 Q15831 (STK11) W C 239 rs137853082 Disease: Peutz- Jeghers syndrome (PJS) [MIM:175200]
41685 Q15831 (STK11) R K 297 - Disease: Peutz- Jeghers syndrome (PJS) [MIM:175200]
41686 Q15831 (STK11) W C 308 rs1057520042 Disease: Peutz- Jeghers syndrome (PJS) [MIM:175200]
41687 Q15831 (STK11) P S 315 rs786202431 Disease: Peutz- Jeghers syndrome (PJS) [MIM:175200]
41688 Q15833 (STXBP2) L P 209 rs121918541 Disease: Familial hemophagocyt ic lymphohistio cytosis 5 (FHL5) [MIM:613101]
41689 Q15833 (STXBP2) R H 292 rs746897867 Disease: Familial hemophagocyt ic lymphohistio cytosis 5 (FHL5) [MIM:613101]
41690 Q15833 (STXBP2) R Q 405 rs773360200 Disease: Familial hemophagocyt ic lymphohistio cytosis 5 (FHL5) [MIM:613101]
41691 Q15833 (STXBP2) R W 405 rs769717341 Disease: Familial hemophagocyt ic lymphohistio cytosis 5 (FHL5) [MIM:613101]
41692 Q15833 (STXBP2) P L 477 rs121918540 Disease: Familial hemophagocyt ic lymphohistio cytosis 5 (FHL5) [MIM:613101]
41693 Q15833 (STXBP2) I V 526 rs6791 Benign
41694 Q15835 (GRK1) E Q 136 rs542688076 Benign
41695 Q15835 (GRK1) T M 298 rs572803634 Benign
41696 Q15835 (GRK1) N S 330 rs375409897 Benign
41697 Q15835 (GRK1) V D 380 rs777094000 Disease: Night blindness, congenital stationary, Oguchi type 2 (CSNBO2) [MIM:613411]
41698 Q15835 (GRK1) P H 391 rs570621429 Disease: Night blindness, congenital stationary, Oguchi type 2 (CSNBO2) [MIM:613411]
41699 Q15835 (GRK1) R H 438 rs750619057 Benign
41700 Q15835 (GRK1) C S 514 rs771561763 Benign
41701 Q15835 (GRK1) M T 522 rs779749742 Benign
41702 Q15835 (GRK1) S L 536 rs553969577 Benign
41703 Q15842 (KCNJ8) V A 334 rs34811413 Benign
41704 Q15842 (KCNJ8) V I 346 rs147316959 Disease: Sudden infant death syndrome (SIDS) [MIM:272120]
41705 Q15848 (ADIPOQ) G R 84 rs199646033 Benign
41706 Q15848 (ADIPOQ) G S 90 rs62625753 Benign
41707 Q15848 (ADIPOQ) Y H 111 rs17366743 Benign
41708 Q15848 (ADIPOQ) R C 112 rs121917815 Disease: Adiponectin deficiency (ADPND) [MIM:612556]
41709 Q15848 (ADIPOQ) V M 117 rs747223144 Benign
41710 Q15848 (ADIPOQ) I T 164 rs185847354 Benign
41711 Q15848 (ADIPOQ) R S 221 rs138773406 Benign
41712 Q15848 (ADIPOQ) H P 241 rs141205818 Benign
41713 Q15849 (SLC14A2) T I 37 rs34461862 Benign
41714 Q15849 (SLC14A2) I V 132 rs1484873 Benign
41715 Q15849 (SLC14A2) G S 443 rs35245152 Benign
41716 Q15849 (SLC14A2) R Q 510 rs9960464 Benign
41717 Q15849 (SLC14A2) V I 750 rs1123617 Benign
41718 Q15849 (SLC14A2) A T 880 rs3745009 Benign
41719 Q15858 (SCN9A) Q R 10 rs267607030 Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41720 Q15858 (SCN9A) I V 62 rs121908920 Disease: Febrile seizures, familial, 3B (FEB3B) [MIM:613863]
41721 Q15858 (SCN9A) P Q 149 rs121908921 Disease: Febrile seizures, familial, 3B (FEB3B) [MIM:613863]
41722 Q15858 (SCN9A) F S 216 rs80356469 Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41723 Q15858 (SCN9A) I M 228 rs71428908 Benign
41724 Q15858 (SCN9A) S T 241 rs80356470 Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41725 Q15858 (SCN9A) N K 395 rs80356471 Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41726 Q15858 (SCN9A) S N 490 rs58022607 Benign
41727 Q15858 (SCN9A) E K 519 rs187453572 Benign
41728 Q15858 (SCN9A) N Y 641 rs121908918 Disease: Generalized epilepsy with febrile seizures plus 7 (GEFS+7) [MIM:613863]
41729 Q15858 (SCN9A) K R 666 rs121908919 Disease: Generalized epilepsy with febrile seizures plus 7 (GEFS+7) [MIM:613863]
41730 Q15858 (SCN9A) I M 695 rs199588089 Benign
41731 Q15858 (SCN9A) C Y 710 rs201709980 Benign
41732 Q15858 (SCN9A) I V 750 rs182650126 Benign
41733 Q15858 (SCN9A) I T 859 rs80356474 Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41734 Q15858 (SCN9A) L F 869 rs80356476 Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41735 Q15858 (SCN9A) L H 869 rs80356475 Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41736 Q15858 (SCN9A) R Q 907 rs1024152367 Disease: Indifference to pain, congenital, autosomal recessive (CIP) [MIM:243000]
41737 Q15858 (SCN9A) M L 932 rs12478318 Benign
41738 Q15858 (SCN9A) M L 943 rs12478318 Benign
41739 Q15858 (SCN9A) R C 1007 rs121908910 Disease: Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
41740 Q15858 (SCN9A) L F 1134 rs200160858 Benign
41741 Q15858 (SCN9A) W R 1161 rs6746030 Benign
41742 Q15858 (SCN9A) L V 1278 rs180922748 Benign
41743 Q15858 (SCN9A) V D 1309 rs121908911 Disease: Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
41744 Q15858 (SCN9A) V F 1309 rs121908912 Disease: Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
41745 Q15858 (SCN9A) V F 1310 rs121908913 Disease: Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
41746 Q15858 (SCN9A) F V 1460 rs80356478 Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41747 Q15858 (SCN9A) I T 1472 rs121908914 Disease: Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
41748 Q15858 (SCN9A) F V 1473 rs1553474394 Disease: Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
41749 Q15858 (SCN9A) T I 1475 rs121908915 Disease: Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
41750 Q15858 (SCN9A) L P 1623 rs1131691776 Disease: Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
41751 Q15858 (SCN9A) M K 1638 - Disease: Paroxysmal extreme pain disorder (PEPD) [MIM:167400]
41752 Q15858 (SCN9A) A E 1643 rs879253994 Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41753 Q15858 (SCN9A) A T 1643 - Disease: Primary erythermalgi a (PERYTHM) [MIM:133020]
41754 Q15858 (SCN9A) D G 1919 rs3750904 Benign
41755 Q15878 (CACNA1E) L P 228 rs1553286282 Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41756 Q15878 (CACNA1E) G R 348 - Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41757 Q15878 (CACNA1E) G R 352 rs886039323 Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41758 Q15878 (CACNA1E) I L 603 rs778291283 Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41759 Q15878 (CACNA1E) G D 690 rs1361083258 Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41760 Q15878 (CACNA1E) F S 698 rs869312920 Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41761 Q15878 (CACNA1E) A T 700 - Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41762 Q15878 (CACNA1E) I V 701 - Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41763 Q15878 (CACNA1E) A P 702 rs12131800 Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41764 Q15878 (CACNA1E) A T 702 rs12131800 Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41765 Q15878 (CACNA1E) D E 859 rs35737760 Benign
41766 Q15878 (CACNA1E) I F 1422 - Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41767 Q15878 (CACNA1E) T N 1425 - Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41768 Q15878 (CACNA1E) G R 1430 rs1553345844 Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41769 Q15878 (CACNA1E) A G 1720 - Disease: Epileptic encephalopat hy, early infantile, 69 (EIEE69) [MIM:618285]
41770 Q15878 (CACNA1E) A T 1955 rs704326 Benign
41771 Q15884 (FAM189A2) T I 233 rs35386391 Benign
41772 Q15884 (FAM189A2) R K 261 rs11138396 Benign
41773 Q15904 (ATP6AP1) L P 144 rs878853276 Disease: Immunodefici ency 47 (IMD47) [MIM:300972]
41774 Q15904 (ATP6AP1) Y C 313 rs878853278 Disease: Immunodefici ency 47 (IMD47) [MIM:300972]
41775 Q15904 (ATP6AP1) E K 346 rs878853277 Disease: Immunodefici ency 47 (IMD47) [MIM:300972]
41776 Q15904 (ATP6AP1) M I 428 rs878853275 Disease: Immunodefici ency 47 (IMD47) [MIM:300972]
41777 Q15907 (RAB11B) V M 22 rs1555690779 Disease: Neurodevelop mental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807]
41778 Q15907 (RAB11B) A T 68 rs1555690804 Disease: Neurodevelop mental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807]
41779 Q15910 (EZH2) P S 132 rs193921148 Disease: Weaver syndrome (WVS) [MIM:277590]
41780 Q15910 (EZH2) Y C 133 - Disease: Weaver syndrome (WVS) [MIM:277590]
41781 Q15910 (EZH2) M T 134 - Disease: Weaver syndrome (WVS) [MIM:277590]
41782 Q15910 (EZH2) K E 156 - Disease: Weaver syndrome (WVS) [MIM:277590]
41783 Q15910 (EZH2) D H 185 rs2302427 Benign
41784 Q15910 (EZH2) H R 279 - Disease: Weaver syndrome (WVS) [MIM:277590]
41785 Q15910 (EZH2) Y F 641 rs267601394 Benign
41786 Q15910 (EZH2) Y H 641 rs267601395 Benign
41787 Q15910 (EZH2) Y N 641 rs267601395 Benign
41788 Q15910 (EZH2) Y S 641 rs267601394 Benign
41789 Q15910 (EZH2) Y N 658 - Disease: Weaver syndrome (WVS) [MIM:277590]
41790 Q15910 (EZH2) A G 677 rs1057519833 Benign
41791 Q15910 (EZH2) A T 677 rs397515547 Disease: Weaver syndrome (WVS) [MIM:277590]
41792 Q15910 (EZH2) R C 679 rs587783626 Disease: Weaver syndrome (WVS) [MIM:277590]
41793 Q15910 (EZH2) H Y 689 rs193921147 Disease: Weaver syndrome (WVS) [MIM:277590]
41794 Q15910 (EZH2) S L 690 - Disease: Weaver syndrome (WVS) [MIM:277590]
41795 Q15910 (EZH2) Y C 736 - Disease: Weaver syndrome (WVS) [MIM:277590]
41796 Q15911 (ZFHX3) S A 72 rs7193297 Benign
41797 Q15911 (ZFHX3) S G 146 rs58480263 Benign
41798 Q15911 (ZFHX3) T P 428 rs16971436 Benign
41799 Q15911 (ZFHX3) E Q 460 rs2073852 Benign
41800 Q15911 (ZFHX3) V A 777 rs4788682 Benign
41801 Q15911 (ZFHX3) A S 997 rs2213978 Benign
41802 Q15911 (ZFHX3) A V 3374 - Benign
41803 Q15911 (ZFHX3) P A 3421 rs8044440 Benign
41804 Q15915 (ZIC1) G R 400 rs1057517670 Disease: Craniosynost osis 6 (CRS6) [MIM:616602]
41805 Q15915 (ZIC1) T A 414 rs143292136 Benign
41806 Q15928 (ZNF141) K E 124 rs2229296 Benign
41807 Q15928 (ZNF141) R K 349 rs955417 Benign
41808 Q15928 (ZNF141) K N 358 rs2018645 Benign
41809 Q15928 (ZNF141) T I 474 rs587776959 Disease: Polydactyly, postaxial A6 (PAPA6) [MIM:615226]
41810 Q15935 (ZNF77) C S 3 rs12610412 Benign
41811 Q15935 (ZNF77) I V 5 rs12609268 Benign
41812 Q15935 (ZNF77) L W 20 rs34603238 Benign
41813 Q15935 (ZNF77) P S 179 rs34705382 Benign
41814 Q15935 (ZNF77) G R 460 rs35411355 Benign
41815 Q15937 (ZNF79) T I 31 rs13292096 Benign
41816 Q15937 (ZNF79) R G 51 rs4504745 Benign
41817 Q15937 (ZNF79) S N 401 rs3210752 Benign
41818 Q15942 (ZYX) H L 223 rs11978404 Benign
41819 Q16082 (HSPB2) G S 111 rs4252589 Benign
41820 Q16099 (GRIK4) V I 528 rs2230298 Benign
41821 Q16099 (GRIK4) M T 824 rs9988907 Benign
41822 Q16134 (ETFDH) F C 16 - Benign
41823 Q16134 (ETFDH) T I 31 rs11559290 Benign
41824 Q16134 (ETFDH) S F 82 rs887871605 Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41825 Q16134 (ETFDH) S P 82 - Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41826 Q16134 (ETFDH) A T 84 rs121964954 Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41827 Q16134 (ETFDH) H R 94 rs1140065 Benign
41828 Q16134 (ETFDH) H Y 112 - Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41829 Q16134 (ETFDH) L H 127 rs121964956 Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41830 Q16134 (ETFDH) R H 175 rs121964955 Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41831 Q16134 (ETFDH) R L 175 rs121964955 Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41832 Q16134 (ETFDH) P L 456 rs398124152 Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41833 Q16134 (ETFDH) P T 456 - Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41834 Q16134 (ETFDH) P L 562 rs993314323 Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41835 Q16134 (ETFDH) K E 590 - Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41836 Q16134 (ETFDH) G E 611 rs761669036 Disease: Glutaric aciduria 2C (GA2C) [MIM:231680]
41837 Q16204 (CCDC6) P T 470 rs1053266 Benign
41838 Q16206 (ENOX2) V I 202 rs754363472 Benign
41839 Q16222 (UAP1) P H 418 rs1128539 Benign
41840 Q16236 (NFE2L2) G R 31 rs1553488015 Disease: Immunodefici ency, developmenta l delay, and hypohomocyst einemia (IMDDHH) [MIM:617744]
41841 Q16236 (NFE2L2) R Q 43 rs35248500 Benign
41842 Q16236 (NFE2L2) E K 79 rs1057519922 Disease: Immunodefici ency, developmenta l delay, and hypohomocyst einemia (IMDDHH) [MIM:617744]
41843 Q16236 (NFE2L2) T K 80 rs1553487947 Disease: Immunodefici ency, developmenta l delay, and hypohomocyst einemia (IMDDHH) [MIM:617744]
41844 Q16236 (NFE2L2) G S 81 rs1553487942 Disease: Immunodefici ency, developmenta l delay, and hypohomocyst einemia (IMDDHH) [MIM:617744]
41845 Q16236 (NFE2L2) S P 99 rs5031039 Benign
41846 Q16236 (NFE2L2) V M 268 rs34154613 Benign
41847 Q16254 (E2F4) T P 293 rs1801013 Benign
41848 Q16270 (IGFBP7) L F 11 rs11573021 Benign
41849 Q16270 (IGFBP7) R G 78 rs11555284 Benign
41850 Q16270 (IGFBP7) K R 95 rs1133243 Benign
41851 Q16280 (CNGA2) D H 118 rs6627455 Benign
41852 Q16280 (CNGA2) W L 139 rs35350051 Benign
41853 Q16280 (CNGA2) E K 663 rs714147 Benign
41854 Q16281 (CNGA3) P L 48 rs62156348 Benign
41855 Q16281 (CNGA3) N D 120 rs199859850 Benign
41856 Q16281 (CNGA3) T M 153 rs34314205 Benign
41857 Q16281 (CNGA3) D V 162 rs747447519 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41858 Q16281 (CNGA3) P L 163 rs104893612 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41859 Q16281 (CNGA3) W C 171 rs762773298 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41860 Q16281 (CNGA3) Y C 181 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41861 Q16281 (CNGA3) N Y 182 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41862 Q16281 (CNGA3) L F 186 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41863 Q16281 (CNGA3) C Y 191 rs761554853 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41864 Q16281 (CNGA3) E K 194 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41865 Q16281 (CNGA3) E K 198 rs2271041 Benign
41866 Q16281 (CNGA3) R Q 223 rs762668060 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41867 Q16281 (CNGA3) R W 223 rs138958917 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41868 Q16281 (CNGA3) T I 224 - Disease: -
41869 Q16281 (CNGA3) T R 224 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41870 Q16281 (CNGA3) T M 247 rs148616345 Benign
41871 Q16281 (CNGA3) F S 249 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41872 Q16281 (CNGA3) P R 258 - Disease: -
41873 Q16281 (CNGA3) D N 260 rs374258471 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41874 Q16281 (CNGA3) Y D 263 rs943314733 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41875 Q16281 (CNGA3) G D 267 rs781673067 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41876 Q16281 (CNGA3) R K 274 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41877 Q16281 (CNGA3) R C 277 rs104893620 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41878 Q16281 (CNGA3) R H 277 rs778114016 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41879 Q16281 (CNGA3) L P 278 rs763421555 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41880 Q16281 (CNGA3) R Q 283 rs104893614 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41881 Q16281 (CNGA3) R W 283 rs104893613 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41882 Q16281 (CNGA3) T R 291 rs104893616 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41883 Q16281 (CNGA3) F S 322 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41884 Q16281 (CNGA3) A D 323 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41885 Q16281 (CNGA3) F S 330 - Disease: -
41886 Q16281 (CNGA3) S F 334 - Disease: -
41887 Q16281 (CNGA3) W C 335 - Benign
41888 Q16281 (CNGA3) S P 341 rs1227761587 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41889 Q16281 (CNGA3) T S 369 rs766637612 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41890 Q16281 (CNGA3) P S 372 rs1464167194 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41891 Q16281 (CNGA3) F S 380 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41892 Q16281 (CNGA3) S P 401 rs916035276 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41893 Q16281 (CNGA3) M T 406 rs1553450734 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41894 Q16281 (CNGA3) R W 410 rs137852608 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41895 Q16281 (CNGA3) R C 427 rs141386891 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41896 Q16281 (CNGA3) R Q 436 rs767083685 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41897 Q16281 (CNGA3) R W 436 rs104893621 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41898 Q16281 (CNGA3) R W 439 rs749842881 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41899 Q16281 (CNGA3) A T 469 rs117522010 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41900 Q16281 (CNGA3) N S 471 rs373954146 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41901 Q16281 (CNGA3) D V 485 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41902 Q16281 (CNGA3) C S 510 rs908111816 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41903 Q16281 (CNGA3) G E 513 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41904 Q16281 (CNGA3) G E 516 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41905 Q16281 (CNGA3) I T 522 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41906 Q16281 (CNGA3) G D 525 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41907 Q16281 (CNGA3) V M 529 rs104893619 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41908 Q16281 (CNGA3) D H 533 rs775332304 Disease: -
41909 Q16281 (CNGA3) F L 547 rs104893617 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41910 Q16281 (CNGA3) G R 548 rs781227859 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41911 Q16281 (CNGA3) G R 557 rs104893615 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41912 Q16281 (CNGA3) R H 563 rs552069173 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41913 Q16281 (CNGA3) T M 565 rs201747279 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41914 Q16281 (CNGA3) R H 569 rs201782746 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41915 Q16281 (CNGA3) S N 570 - Disease: -
41916 Q16281 (CNGA3) Y C 573 - Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41917 Q16281 (CNGA3) E K 590 rs763041373 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41918 Q16281 (CNGA3) E K 593 rs774676415 Disease: Achromatopsi a 2 (ACHM2) [MIM:216900]
41919 Q16281 (CNGA3) R H 646 rs141577844 Benign
41920 Q16288 (NTRK3) V F 21 rs200822610 Benign
41921 Q16288 (NTRK3) T M 93 rs147992979 Disease: -
41922 Q16288 (NTRK3) R C 306 rs56386352 Benign
41923 Q16288 (NTRK3) I F 533 rs869112057 Disease: -
41924 Q16288 (NTRK3) R Q 678 rs55890138 Benign
41925 Q16288 (NTRK3) K R 768 rs55770052 Benign
41926 Q16288 (NTRK3) E K 781 rs56393451 Benign
41927 Q16288 (NTRK3) I M 817 rs869209165 Disease: -
41928 Q16322 (KCNA10) V M 220 rs34970857 Benign
41929 Q16322 (KCNA10) S N 258 rs3748729 Benign
41930 Q16348 (SLC15A2) R H 57 rs1920305 Benign
41931 Q16348 (SLC15A2) Y C 73 rs1143667 Benign
41932 Q16348 (SLC15A2) L F 350 rs2257212 Benign
41933 Q16348 (SLC15A2) P S 409 rs1143671 Benign
41934 Q16348 (SLC15A2) R K 509 rs1143672 Benign
41935 Q16348 (SLC15A2) A G 609 rs1143668 Benign
41936 Q16348 (SLC15A2) M L 704 rs1920314 Benign
41937 Q16352 (INA) T S 92 rs1063455 Benign
41938 Q16352 (INA) D H 149 rs1063456 Benign
41939 Q16363 (LAMA4) G S 94 rs35349917 Benign
41940 Q16363 (LAMA4) R W 154 rs11757455 Benign
41941 Q16363 (LAMA4) A E 283 rs9400522 Benign
41942 Q16363 (LAMA4) L H 492 rs3752579 Benign
41943 Q16363 (LAMA4) Y H 498 rs1050348 Benign
41944 Q16363 (LAMA4) P L 950 - Disease: Cardiomyopat hy, dilated 1JJ (CMD1JJ) [MIM:615235]
41945 Q16363 (LAMA4) G S 1117 rs2032567 Benign
41946 Q16363 (LAMA4) P R 1119 rs1050349 Benign
41947 Q16363 (LAMA4) N S 1549 rs12110554 Benign
41948 Q16363 (LAMA4) V I 1815 rs3734292 Benign
41949 Q16378 (PRR4) R Q 96 rs1063193 Benign
41950 Q16378 (PRR4) Q R 120 rs1047699 Benign
41951 Q16394 (EXT1) Q K 27 - Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41952 Q16394 (EXT1) D H 164 - Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41953 Q16394 (EXT1) R G 280 rs1554601483 Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41954 Q16394 (EXT1) R S 280 - Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41955 Q16394 (EXT1) N S 316 - Disease: Chondrosarco ma (CHDSA) [MIM:215300]
41956 Q16394 (EXT1) G D 339 rs119103288 Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41957 Q16394 (EXT1) R C 340 rs119103290 Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41958 Q16394 (EXT1) R H 340 rs119103287 Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41959 Q16394 (EXT1) R L 340 rs119103287 Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41960 Q16394 (EXT1) R S 340 - Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41961 Q16394 (EXT1) A V 486 rs188859975 Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41962 Q16394 (EXT1) P L 496 - Disease: Hereditary multiple exostoses 1 (EXT1) [MIM:133700]
41963 Q16401 (PSMD5) E G 21 rs2297575 Benign
41964 Q16401 (PSMD5) L H 72 rs17282618 Benign
41965 Q16445 (GABRA6) T M 187 rs3811993 Benign
41966 Q16445 (GABRA6) P S 404 rs34907804 Benign
41967 Q16512 (PKN1) A E 197 rs1287763348 Benign
41968 Q16512 (PKN1) R W 436 rs35132656 Benign
41969 Q16512 (PKN1) R Q 520 rs56273055 Benign
41970 Q16512 (PKN1) L I 555 rs34309238 Benign
41971 Q16512 (PKN1) R Q 635 rs35416389 Benign
41972 Q16512 (PKN1) I V 718 rs2230539 Benign
41973 Q16512 (PKN1) V I 901 rs10846 Benign
41974 Q16513 (PKN2) E D 94 rs12039846 Benign
41975 Q16513 (PKN2) A E 197 rs35207128 Benign
41976 Q16513 (PKN2) Q R 655 rs12085658 Benign
41977 Q16515 (ASIC2) D G 354 rs16967895 Benign
41978 Q16518 (RPE65) L P 22 rs61751277 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41979 Q16518 (RPE65) G D 40 - Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41980 Q16518 (RPE65) G S 40 rs61751281 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41981 Q16518 (RPE65) R Q 44 rs61751282 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41982 Q16518 (RPE65) L P 60 rs1266217912 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
41983 Q16518 (RPE65) H Y 68 rs61752866 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41984 Q16518 (RPE65) F V 70 - Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
41985 Q16518 (RPE65) Y H 79 rs61752869 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
41986 Q16518 (RPE65) R P 91 rs61752873 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41987 Q16518 (RPE65) R Q 91 rs61752873 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41988 Q16518 (RPE65) R W 91 rs61752871 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
41989 Q16518 (RPE65) E Q 95 rs61752874 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
41990 Q16518 (RPE65) T I 101 - Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41991 Q16518 (RPE65) E K 102 rs62642584 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
41992 Q16518 (RPE65) Y D 144 rs61752880 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41993 Q16518 (RPE65) E D 148 rs61752882 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41994 Q16518 (RPE65) D Y 167 rs61752883 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
41995 Q16518 (RPE65) H N 182 rs61752884 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41996 Q16518 (RPE65) H Y 182 rs61752884 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41997 Q16518 (RPE65) Y D 239 rs61752896 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
41998 Q16518 (RPE65) V F 287 rs281865289 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
41999 Q16518 (RPE65) K T 294 rs61752901 Benign
42000 Q16518 (RPE65) H R 313 rs1375943362 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42001 Q16518 (RPE65) Y N 318 - Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42002 Q16518 (RPE65) N K 321 rs149916178 Benign
42003 Q16518 (RPE65) C Y 330 rs61752908 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42004 Q16518 (RPE65) L S 341 rs61752909 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
42005 Q16518 (RPE65) P T 363 rs121917744 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42006 Q16518 (RPE65) Y H 368 rs62653011 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
42007 Q16518 (RPE65) A E 393 - Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42008 Q16518 (RPE65) A G 393 rs62635773 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42009 Q16518 (RPE65) L P 408 - Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42010 Q16518 (RPE65) E Q 417 rs62636299 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42011 Q16518 (RPE65) Y C 431 rs62636300 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42012 Q16518 (RPE65) A V 434 rs34627040 Benign
42013 Q16518 (RPE65) Y C 435 rs62636302 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42014 Q16518 (RPE65) G V 436 rs62637002 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
42015 Q16518 (RPE65) V G 452 rs62637004 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
42016 Q16518 (RPE65) P L 470 rs774211361 Disease: Leber congenital amaurosis 2 (LCA2) [MIM:204100]
42017 Q16518 (RPE65) V D 473 rs62637007 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
42018 Q16518 (RPE65) R W 515 rs121917745 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
42019 Q16518 (RPE65) G V 528 rs1193631220 Disease: Retinitis pigmentosa 20 (RP20) [MIM:613794]
42020 Q16531 (DDB1) L F 427 rs28720299 Benign
42021 Q16538 (GPR162) R G 459 rs11612427 Benign
42022 Q16539 (MAPK14) D G 343 rs45496794 Benign
42023 Q16540 (MRPL23) R Q 11 rs34134444 Benign
42024 Q16540 (MRPL23) G S 32 rs2240197 Benign
42025 Q16540 (MRPL23) A V 34 rs6512 Benign
42026 Q16540 (MRPL23) D N 81 rs4930142 Benign
42027 Q16540 (MRPL23) A T 122 rs12812 Benign
42028 Q16543 (CDC37) G E 360 rs280528 Benign
42029 Q16548 (BCL2A1) C Y 19 rs1138357 Benign
42030 Q16548 (BCL2A1) N K 39 rs1138358 Benign
42031 Q16548 (BCL2A1) G D 82 rs3826007 Benign
42032 Q16548 (BCL2A1) E D 117 rs34080999 Benign
42033 Q16549 (PCSK7) L V 688 rs608620 Benign
42034 Q16549 (PCSK7) S N 689 rs45539233 Benign
42035 Q16549 (PCSK7) R M 700 rs45574931 Benign
42036 Q16549 (PCSK7) H Y 708 rs473131 Benign
42037 Q16549 (PCSK7) R Q 711 rs473093 Benign
42038 Q16555 (DPYSL2) A T 118 rs2228979 Benign
42039 Q16557 (PSG3) L S 23 rs11559136 Benign
42040 Q16557 (PSG3) L P 30 rs12185496 Benign
42041 Q16557 (PSG3) L S 30 rs12185496 Benign
42042 Q16557 (PSG3) N T 198 rs16976174 Benign
42043 Q16557 (PSG3) K N 199 rs17173152 Benign
42044 Q16557 (PSG3) I N 290 rs28698193 Benign
42045 Q16558 (KCNMB1) E K 65 rs11739136 Benign
42046 Q16558 (KCNMB1) V L 110 rs2301149 Benign
42047 Q16566 (CAMK4) D N 178 rs35548075 Benign
42048 Q16566 (CAMK4) Q R 465 rs56360861 Benign
42049 Q16568 (CARTPT) L F 61 rs121909065 Benign
42050 Q16568 (CARTPT) S T 66 rs78242624 Benign
42051 Q16568 (CARTPT) L M 113 rs12517689 Benign
42052 Q16570 (ACKR1) G D 42 rs12075 Benign
42053 Q16570 (ACKR1) R C 89 rs34599082 Benign
42054 Q16570 (ACKR1) A T 100 rs13962 Benign
42055 Q16570 (ACKR1) L Q 203 rs3027020 Benign
42056 Q16570 (ACKR1) S F 326 rs17851570 Benign
42057 Q16572 (SLC18A3) R Q 11 rs8187732 Benign
42058 Q16572 (SLC18A3) A P 13 rs8187733 Benign
42059 Q16572 (SLC18A3) R W 29 rs8187734 Benign
42060 Q16572 (SLC18A3) G A 186 rs1057517665 Disease: Myasthenic syndrome, congenital, 21, presynaptic (CMS21) [MIM:617239]
42061 Q16572 (SLC18A3) D H 398 rs1057517666 Disease: Myasthenic syndrome, congenital, 21, presynaptic (CMS21) [MIM:617239]
42062 Q16572 (SLC18A3) A E 520 rs8187730 Benign
42063 Q16581 (C3AR1) V A 136 rs11567806 Benign
42064 Q16584 (MAP3K11) D V 151 rs34178129 Benign
42065 Q16584 (MAP3K11) P H 252 rs17855912 Benign
42066 Q16584 (MAP3K11) A G 282 rs34594252 Benign
42067 Q16585 (SGCB) Q E 11 rs752492870 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42068 Q16585 (SGCB) R C 91 rs555514820 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42069 Q16585 (SGCB) R L 91 rs104893869 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42070 Q16585 (SGCB) R P 91 rs104893869 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42071 Q16585 (SGCB) M K 100 rs104893871 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42072 Q16585 (SGCB) L R 108 rs104893870 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42073 Q16585 (SGCB) S F 114 rs150518260 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42074 Q16585 (SGCB) I F 119 rs762412447 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42075 Q16585 (SGCB) G D 139 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42076 Q16585 (SGCB) T R 151 rs28936383 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42077 Q16585 (SGCB) G S 167 rs779516489 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42078 Q16585 (SGCB) T A 182 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 4 (LGMDR4) [MIM:604286]
42079 Q16585 (SGCB) Y C 184 rs1365923535 Disease: -
42080 Q16586 (SGCA) P L 30 rs886043256 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42081 Q16586 (SGCA) L P 31 rs903823830 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42082 Q16586 (SGCA) R C 34 rs758647756 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42083 Q16586 (SGCA) R H 34 rs371675217 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42084 Q16586 (SGCA) Y H 62 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42085 Q16586 (SGCA) G E 68 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42086 Q16586 (SGCA) R W 74 rs757888349 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42087 Q16586 (SGCA) L F 76 rs1555568335 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42088 Q16586 (SGCA) R C 77 rs28933693 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42089 Q16586 (SGCA) R C 81 rs398123098 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42090 Q16586 (SGCA) L P 89 rs1435014211 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42091 Q16586 (SGCA) G R 91 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42092 Q16586 (SGCA) A V 93 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42093 Q16586 (SGCA) D G 97 rs1555568396 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42094 Q16586 (SGCA) R C 98 rs138945081 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42095 Q16586 (SGCA) R H 98 rs137852621 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42096 Q16586 (SGCA) I T 103 rs1161291343 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42097 Q16586 (SGCA) I T 124 rs768814872 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42098 Q16586 (SGCA) E G 137 rs397514451 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42099 Q16586 (SGCA) E K 137 rs372210292 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42100 Q16586 (SGCA) L F 158 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42101 Q16586 (SGCA) L P 173 rs143962150 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42102 Q16586 (SGCA) V A 175 rs137852622 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42103 Q16586 (SGCA) V I 196 rs752695991 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42104 Q16586 (SGCA) P H 205 rs757481230 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42105 Q16586 (SGCA) P Q 228 - Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42106 Q16586 (SGCA) V A 242 rs1384158714 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42107 Q16586 (SGCA) V M 247 rs143570936 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42108 Q16586 (SGCA) R C 284 rs137852623 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]
42109 Q16587 (ZNF74) E K 117 rs3747076 Benign
42110 Q16589 (CCNG2) L V 4 rs4150050 Benign
42111 Q16589 (CCNG2) E G 28 rs4150051 Benign
42112 Q16594 (TAF9) T M 6 rs4252233 Benign
42113 Q16594 (TAF9) Q H 210 rs11542580 Benign
42114 Q16595 (FXN) L S 106 rs104894105 Disease: Friedreich ataxia (FRDA) [MIM:229300]
42115 Q16595 (FXN) D Y 122 rs142157346 Disease: Friedreich ataxia (FRDA) [MIM:229300]
42116 Q16595 (FXN) G V 130 rs104894107 Disease: Friedreich ataxia (FRDA) [MIM:229300]
42117 Q16595 (FXN) I F 154 rs104894106 Disease: Friedreich ataxia (FRDA) [MIM:229300]
42118 Q16595 (FXN) W R 155 rs138471431 Disease: Friedreich ataxia (FRDA) [MIM:229300]
42119 Q16595 (FXN) R C 165 rs138034837 Disease: Friedreich ataxia (FRDA) [MIM:229300]
42120 Q16595 (FXN) L F 182 rs139616452 Disease: Friedreich ataxia (FRDA) [MIM:229300]
42121 Q16595 (FXN) L R 198 rs144104124 Disease: Friedreich ataxia (FRDA) [MIM:229300]
42122 Q16595 (FXN) S C 202 rs1052195 Benign
42123 Q16600 (ZNF239) A G 172 rs2230660 Benign
42124 Q16600 (ZNF239) C G 209 rs2230661 Benign
42125 Q16600 (ZNF239) D E 266 rs1128865 Benign
42126 Q16602 (CALCRL) N Y 8 rs698577 Benign
42127 Q16602 (CALCRL) F L 16 rs13391909 Benign
42128 Q16602 (CALCRL) R I 274 rs34010553 Benign
42129 Q16609 (LPAL2) T M 91 rs7749199 Benign
42130 Q16610 (ECM1) T M 130 rs3737240 Benign
42131 Q16610 (ECM1) F I 167 rs121909116 Disease: Lipoid proteinosis (LiP) [MIM:247100]
42132 Q16610 (ECM1) G S 415 rs13294 Benign
42133 Q16610 (ECM1) G R 528 rs1050901 Benign
42134 Q16610 (ECM1) S F 535 rs1050904 Benign
42135 Q16611 (BAK1) A V 28 rs4987115 Benign
42136 Q16611 (BAK1) R H 42 rs1051911 Benign
42137 Q16611 (BAK1) S R 69 rs5745592 Benign
42138 Q16612 (NREP) E G 43 rs11559 Benign
42139 Q16613 (AANAT) R C 15 rs34470791 Benign
42140 Q16619 (CTF1) A T 92 rs2234933 Benign
42141 Q16620 (NTRK2) G R 309 - Benign
42142 Q16620 (NTRK2) N Y 338 rs1047856 Benign
42143 Q16620 (NTRK2) G V 545 rs1075108 Benign
42144 Q16620 (NTRK2) Y C 706 rs121434633 Disease: Obesity, hyperphagia, and developmenta l delay (OBHD) [MIM:613886]
42145 Q16625 (OCLN) F S 219 rs267606926 Disease: Pseudo-TORCH syndrome 1 (PTORCH1) [MIM:251290]
42146 Q16626 (MEA1) A D 183 rs11751058 Benign
42147 Q16627 (CCL14) K E 61 rs16971802 Benign
42148 Q16633 (POU2AF1) T A 141 rs1042750 Benign
42149 Q16633 (POU2AF1) Q R 194 rs1042751 Benign
42150 Q16635 (TAZ) R S 94 rs104894942 Disease: Barth syndrome (BTHS) [MIM:302060]
42151 Q16635 (TAZ) C R 118 rs104894937 Disease: Barth syndrome (BTHS) [MIM:302060]
42152 Q16635 (TAZ) G R 197 rs132630277 Disease: Barth syndrome (BTHS) [MIM:302060]
42153 Q16635 (TAZ) G R 240 rs387907218 Disease: Barth syndrome (BTHS) [MIM:302060]
42154 Q16637 (SMN1) A G 2 rs75030631 Disease: Spinal muscular atrophy 3 (SMA3) [MIM:253400]
42155 Q16637 (SMN1) D N 30 rs104893930 Disease: Spinal muscular atrophy 2 (SMA2) [MIM:253550]
42156 Q16637 (SMN1) D V 44 rs104893931 Disease: Spinal muscular atrophy 3 (SMA3) [MIM:253400]
42157 Q16637 (SMN1) G R 95 rs104893927 Disease: Spinal muscular atrophy 3 (SMA3) [MIM:253400]
42158 Q16637 (SMN1) A G 111 rs104893935 Disease: Spinal muscular atrophy 2 (SMA2) [MIM:253550]
42159 Q16637 (SMN1) I F 116 rs104893933 Disease: Spinal muscular atrophy 1 (SMA1) [MIM:253300]
42160 Q16637 (SMN1) Q E 136 rs104893934 Disease: Spinal muscular atrophy 1 (SMA1) [MIM:253300]
42161 Q16637 (SMN1) P L 245 rs75586164 Disease: Spinal muscular atrophy 3 (SMA3) [MIM:253400]
42162 Q16637 (SMN1) S G 262 rs104893932 Disease: Spinal muscular atrophy 3 (SMA3) [MIM:253400]
42163 Q16637 (SMN1) S I 262 rs75660264 Disease: Spinal muscular atrophy 3 (SMA3) [MIM:253400]
42164 Q16637 (SMN1) Y C 272 rs104893922 Disease: Spinal muscular atrophy 1 (SMA1) [MIM:253300]
42165 Q16637 (SMN1) T I 274 rs76871093 Disease: Spinal muscular atrophy 3 (SMA3) [MIM:253400]
42166 Q16637 (SMN1) G S 275 rs77301881 Disease: Spinal muscular atrophy 3 (SMA3) [MIM:253400]
42167 Q16637 (SMN1) G C 279 rs77969175 Disease: Spinal muscular atrophy 3 (SMA3) [MIM:253400]
42168 Q16637 (SMN1) G V 279 rs76163360 Disease: Spinal muscular atrophy 1 (SMA1) [MIM:253300]
42169 Q16643 (DBN1) I V 446 rs2544809 Benign
42170 Q16643 (DBN1) S P 553 rs28538572 Benign
42171 Q16644 (MAPKAPK3) L P 173 rs886037913 Disease: Macular dystrophy, patterned, 3 (MDPT3) [MIM:617111]
42172 Q16644 (MAPKAPK3) D Y 276 rs56107897 Benign
42173 Q16647 (PTGIS) P L 38 rs1173082660 Benign
42174 Q16647 (PTGIS) S R 118 rs5622 Benign
42175 Q16647 (PTGIS) E A 154 rs5623 Benign
42176 Q16647 (PTGIS) F L 171 rs5624 Benign
42177 Q16647 (PTGIS) R C 236 rs5626 Benign
42178 Q16647 (PTGIS) R S 379 rs56195291 Benign
42179 Q16647 (PTGIS) A T 447 rs146531327 Benign
42180 Q16647 (PTGIS) P S 500 rs5584 Benign
42181 Q16650 (TBR1) K E 228 - Disease: Intellectual developmenta l disorder with autism and speech delay (IDDAS) [MIM:606053]
42182 Q16650 (TBR1) W C 271 - Disease: Intellectual developmenta l disorder with autism and speech delay (IDDAS) [MIM:606053]
42183 Q16650 (TBR1) W R 271 rs1553510301 Disease: Intellectual developmenta l disorder with autism and speech delay (IDDAS) [MIM:606053]
42184 Q16650 (TBR1) H Q 289 rs12994035 Benign
42185 Q16650 (TBR1) N H 374 - Disease: Intellectual developmenta l disorder with autism and speech delay (IDDAS) [MIM:606053]
42186 Q16650 (TBR1) K E 389 - Disease: Intellectual developmenta l disorder with autism and speech delay (IDDAS) [MIM:606053]
42187 Q16653 (MOG) S C 133 rs387906655 Disease: Narcolepsy 7 (NRCLP7) [MIM:614250]
42188 Q16653 (MOG) V L 171 rs2857766 Benign
42189 Q16653 (MOG) I V 174 rs3130253 Benign
42190 Q16654 (PDK4) A V 17 rs56391840 Benign
42191 Q16654 (PDK4) L M 19 rs55761955 Benign
42192 Q16654 (PDK4) D G 109 rs34898343 Benign
42193 Q16659 (MAPK6) L V 290 rs35697691 Benign
42194 Q16661 (GUCA2B) P T 11 rs2297567 Benign
42195 Q16663 (CCL15) I T 24 rs854625 Benign
42196 Q16665 (HIF1A) P S 582 rs11549465 Benign
42197 Q16665 (HIF1A) A T 588 rs11549467 Benign
42198 Q16665 (HIF1A) T A 796 rs1802821 Benign
42199 Q16666 (IFI16) D H 103 rs1057018 Benign
42200 Q16666 (IFI16) S T 179 rs866484 Benign
42201 Q16666 (IFI16) K E 202 rs11585341 Benign
42202 Q16666 (IFI16) R S 409 rs1057027 Benign
42203 Q16666 (IFI16) Y N 413 rs1057028 Benign
42204 Q16666 (IFI16) T S 723 rs6940 Benign
42205 Q16666 (IFI16) T S 779 rs6940 Benign
42206 Q16667 (CDKN3) W R 31 - Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
42207 Q16667 (CDKN3) F L 78 - Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
42208 Q16667 (CDKN3) C Y 79 - Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
42209 Q16667 (CDKN3) N K 91 rs760687800 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
42210 Q16667 (CDKN3) D V 94 - Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
42211 Q16667 (CDKN3) L F 95 - Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
42212 Q16667 (CDKN3) I V 108 rs144479038 Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
42213 Q16667 (CDKN3) S F 159 rs1803843 Benign
42214 Q16667 (CDKN3) N S 187 - Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
42215 Q16667 (CDKN3) K I 195 - Disease: Hepatocellul ar carcinoma (HCC) [MIM:114550]
42216 Q16670 (ZSCAN26) Y C 59 rs16893892 Benign
42217 Q16670 (ZSCAN26) R Q 73 rs11965538 Benign
42218 Q16670 (ZSCAN26) E K 83 rs11965542 Benign
42219 Q16670 (ZSCAN26) R S 220 rs17851075 Benign
42220 Q16671 (AMHR2) R C 54 rs534999427 Disease: Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
42221 Q16671 (AMHR2) G V 142 - Disease: Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
42222 Q16671 (AMHR2) H Q 282 rs539695176 Disease: Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
42223 Q16671 (AMHR2) R H 319 rs144236183 Benign
42224 Q16671 (AMHR2) R Q 406 rs137853104 Disease: Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
42225 Q16671 (AMHR2) D G 426 - Disease: Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
42226 Q16671 (AMHR2) V A 458 rs775889926 Disease: Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
42227 Q16671 (AMHR2) D H 491 rs780680518 Disease: Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
42228 Q16671 (AMHR2) R C 504 rs772294564 Disease: Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
42229 Q16676 (FOXD1) R P 55 rs775281482 Benign
42230 Q16676 (FOXD1) A G 88 rs7705335 Benign
42231 Q16676 (FOXD1) P L 228 rs562222810 Benign
42232 Q16676 (FOXD1) A T 326 rs552595262 Benign
42233 Q16676 (FOXD1) A V 336 rs1039708369 Benign
42234 Q16676 (FOXD1) P R 352 rs951256776 Benign
42235 Q16676 (FOXD1) A G 356 rs917127030 Benign
42236 Q16676 (FOXD1) I M 364 rs992724147 Benign
42237 Q16676 (FOXD1) P L 396 rs540644822 Benign
42238 Q16676 (FOXD1) V I 437 - Benign
42239 Q16676 (FOXD1) A S 442 - Benign
42240 Q16678 (CYP1B1) S W 28 rs780002791 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42241 Q16678 (CYP1B1) R G 48 rs10012 Benign
42242 Q16678 (CYP1B1) P L 52 rs201824781 Benign
42243 Q16678 (CYP1B1) W C 57 rs72549387 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42244 Q16678 (CYP1B1) G E 61 rs28936700 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42245 Q16678 (CYP1B1) Q R 68 rs9282670 Benign
42246 Q16678 (CYP1B1) L P 77 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42247 Q16678 (CYP1B1) Y N 81 rs9282671 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42248 Q16678 (CYP1B1) A P 115 rs764338357 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42249 Q16678 (CYP1B1) A S 119 rs1056827 Benign
42250 Q16678 (CYP1B1) M R 132 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42251 Q16678 (CYP1B1) Q H 144 - Benign
42252 Q16678 (CYP1B1) Q P 144 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42253 Q16678 (CYP1B1) Q R 144 rs753847648 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42254 Q16678 (CYP1B1) R W 145 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42255 Q16678 (CYP1B1) G S 184 - Benign
42256 Q16678 (CYP1B1) A P 189 rs1326854156 Benign
42257 Q16678 (CYP1B1) D V 192 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42258 Q16678 (CYP1B1) P L 193 rs529769268 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42259 Q16678 (CYP1B1) V I 198 rs59472972 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42260 Q16678 (CYP1B1) N S 203 rs1426636145 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42261 Q16678 (CYP1B1) S N 206 rs9341248 Benign
42262 Q16678 (CYP1B1) S I 215 rs72549384 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42263 Q16678 (CYP1B1) E K 229 rs57865060 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42264 Q16678 (CYP1B1) G R 232 rs104893628 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42265 Q16678 (CYP1B1) S R 239 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42266 Q16678 (CYP1B1) R L 266 rs9341250 Benign
42267 Q16678 (CYP1B1) V L 320 rs72549382 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42268 Q16678 (CYP1B1) A S 330 rs752456881 Benign
42269 Q16678 (CYP1B1) L F 345 rs66583685 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42270 Q16678 (CYP1B1) V M 364 rs72549379 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42271 Q16678 (CYP1B1) G W 365 rs55771538 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42272 Q16678 (CYP1B1) R H 368 rs79204362 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42273 Q16678 (CYP1B1) D N 374 rs104893622 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42274 Q16678 (CYP1B1) P L 379 rs56305281 Benign
42275 Q16678 (CYP1B1) E K 387 rs55989760 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42276 Q16678 (CYP1B1) A T 388 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42277 Q16678 (CYP1B1) R C 390 rs148542782 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42278 Q16678 (CYP1B1) R H 390 rs56010818 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42279 Q16678 (CYP1B1) R S 390 rs148542782 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42280 Q16678 (CYP1B1) I S 399 rs72549378 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42281 Q16678 (CYP1B1) V F 409 rs957253424 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42282 Q16678 (CYP1B1) V G 422 - Benign
42283 Q16678 (CYP1B1) N Y 423 rs104893629 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42284 Q16678 (CYP1B1) L V 432 rs1056836 Benign
42285 Q16678 (CYP1B1) P L 437 rs56175199 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42286 Q16678 (CYP1B1) D H 441 rs4986887 Benign
42287 Q16678 (CYP1B1) R Q 444 rs72549376 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42288 Q16678 (CYP1B1) F C 445 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42289 Q16678 (CYP1B1) D E 449 rs1056837 Benign
42290 Q16678 (CYP1B1) N S 453 rs1800440 Benign
42291 Q16678 (CYP1B1) G D 466 rs868208502 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42292 Q16678 (CYP1B1) R W 469 rs28936701 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42293 Q16678 (CYP1B1) E G 499 rs72549372 Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42294 Q16678 (CYP1B1) V A 518 - Benign
42295 Q16678 (CYP1B1) R T 523 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42296 Q16678 (CYP1B1) D G 530 - Disease: Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
42297 Q16690 (DUSP5) E D 154 rs2282238 Benign
42298 Q16690 (DUSP5) A T 220 rs1889566 Benign
42299 Q16690 (DUSP5) A V 220 rs1889565 Benign
42300 Q16690 (DUSP5) P L 322 rs35101549 Benign
42301 Q16696 (CYP2A13) R Q 25 rs8192784 Benign
42302 Q16696 (CYP2A13) R Q 101 rs148044792 Benign
42303 Q16696 (CYP2A13) D E 158 rs112337232 Benign
42304 Q16696 (CYP2A13) R C 257 rs8192789 Benign
42305 Q16696 (CYP2A13) V L 323 - Benign
42306 Q16696 (CYP2A13) F Y 453 rs72547590 Benign
42307 Q16696 (CYP2A13) R C 494 rs138870349 Benign
42308 Q16698 (DECR1) K N 333 rs15094 Benign
42309 Q16706 (MAN2A1) L V 1012 - Benign
42310 Q16719 (KYNU) R Q 188 rs2304705 Benign
42311 Q16719 (KYNU) T A 198 rs606231307 Disease: Hydroxykynur eninuria (HYXKY) [MIM:236800]
42312 Q16719 (KYNU) K E 412 rs9013 Benign
42313 Q16720 (ATP2B3) I M 198 rs2269409 Benign
42314 Q16720 (ATP2B3) G D 1107 rs397514619 Disease: Spinocerebel lar ataxia, X-linked 1 (SCAX1) [MIM:302500]
42315 Q16740 (CLPP) T P 145 rs398123033 Disease: Perrault syndrome 3 (PRLTS3) [MIM:614129]
42316 Q16740 (CLPP) C S 147 rs398123034 Disease: Perrault syndrome 3 (PRLTS3) [MIM:614129]
42317 Q16740 (CLPP) Y D 229 - Disease: Perrault syndrome 3 (PRLTS3) [MIM:614129]
42318 Q16762 (TST) E D 102 rs35156365 Benign
42319 Q16762 (TST) E G 228 rs1049270 Benign
42320 Q16769 (QPCT) R W 54 rs2255991 Benign
42321 Q16769 (QPCT) Q R 71 rs895245310 Benign
42322 Q16769 (QPCT) H P 360 rs4670696 Benign
42323 Q16772 (GSTA3) G E 36 rs45504096 Benign
42324 Q16772 (GSTA3) I L 71 rs1052661 Benign
42325 Q16772 (GSTA3) N D 73 rs41273858 Benign
42326 Q16772 (GSTA3) R Q 113 rs45602042 Benign
42327 Q16772 (GSTA3) A T 208 rs45620832 Benign
42328 Q16787 (LAMA3) T N 796 rs17187262 Benign
42329 Q16787 (LAMA3) V A 1206 rs12457323 Benign
42330 Q16787 (LAMA3) P T 1208 rs17202961 Benign
42331 Q16787 (LAMA3) F L 1774 rs958631 Benign
42332 Q16787 (LAMA3) T A 2702 rs9952370 Benign
42333 Q16787 (LAMA3) N K 2815 rs1154232 Benign
42334 Q16787 (LAMA3) S G 2834 rs1154233 Benign
42335 Q16790 (CA9) V M 33 rs2071676 Benign
42336 Q16790 (CA9) Q R 326 rs3829078 Benign
42337 Q16795 (NDUFA9) R P 321 rs199592341 Disease: Mitochondria l complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247]
42338 Q16795 (NDUFA9) R C 360 rs3210083 Disease: Mitochondria l complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247]
42339 Q16798 (ME3) S G 85 rs17856661 Benign
42340 Q16798 (ME3) K N 324 rs1042780 Benign
42341 Q16799 (RTN1) G E 247 rs35645652 Benign
42342 Q16799 (RTN1) I V 357 rs35707243 Benign
42343 Q16816 (PHKG1) R C 323 rs149458708 Benign
42344 Q16819 (MEP1A) V L 469 rs2274658 Benign
42345 Q16819 (MEP1A) R G 476 rs12197930 Benign
42346 Q16819 (MEP1A) T S 606 rs2297020 Benign
42347 Q16819 (MEP1A) M V 634 rs2297019 Benign
42348 Q16819 (MEP1A) T M 726 rs1804211 Benign
42349 Q16820 (MEP1B) T A 324 - Benign
42350 Q16820 (MEP1B) V M 326 rs9959396 Benign
42351 Q16820 (MEP1B) P L 695 rs616114 Benign
42352 Q16821 (PPP1R3A) G S 45 rs8192687 Benign
42353 Q16821 (PPP1R3A) C Y 231 rs7801819 Benign
42354 Q16821 (PPP1R3A) V M 451 rs2974942 Benign
42355 Q16821 (PPP1R3A) N K 476 rs2974944 Benign
42356 Q16821 (PPP1R3A) R K 627 rs35067467 Benign
42357 Q16821 (PPP1R3A) E K 748 rs4304271 Benign
42358 Q16821 (PPP1R3A) L H 882 rs2974938 Benign
42359 Q16821 (PPP1R3A) R S 883 rs1800000 Benign
42360 Q16821 (PPP1R3A) D Y 905 rs1799999 Benign
42361 Q16821 (PPP1R3A) A E 931 rs35449651 Disease: Diabetes mellitus, non-insulin- dependent (NIDDM) [MIM:125853]
42362 Q16822 (PCK2) R Q 31 rs2229660 Benign
42363 Q16822 (PCK2) D N 64 rs10132601 Benign
42364 Q16822 (PCK2) G S 406 rs17101262 Benign
42365 Q16822 (PCK2) R H 521 rs35618680 Benign
42366 Q16825 (PTPN21) L F 385 rs2401751 Benign
42367 Q16825 (PTPN21) K N 906 rs12879993 Benign
42368 Q16825 (PTPN21) V A 936 rs2274736 Benign
42369 Q16828 (DUSP6) F I 77 rs587776978 Disease: Hypogonadotr opic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
42370 Q16828 (DUSP6) V L 114 rs2279574 Benign
42371 Q16828 (DUSP6) S A 144 rs770087 Benign
42372 Q16828 (DUSP6) S F 182 rs139318648 Disease: Hypogonadotr opic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
42373 Q16828 (DUSP6) N S 189 rs143946794 Disease: Hypogonadotr opic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
42374 Q16828 (DUSP6) N I 313 rs12828557 Benign
42375 Q16828 (DUSP6) T M 346 rs146089505 Disease: Hypogonadotr opic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
42376 Q16829 (DUSP7) S N 235 rs34821455 Benign
42377 Q16832 (DDR2) E K 113 rs397514747 Disease: Spondyloepim etaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665]
42378 Q16832 (DDR2) R W 124 - Disease: Spondyloepim etaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665]
42379 Q16832 (DDR2) M I 441 rs34722354 Benign
42380 Q16832 (DDR2) R C 478 rs34869543 Benign
42381 Q16832 (DDR2) V F 543 rs55973200 Benign
42382 Q16832 (DDR2) L P 610 - Disease: Warburg- Cinotti syndrome (WRCN) [MIM:618175]
42383 Q16832 (DDR2) T I 713 rs121964865 Disease: Spondyloepim etaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665]
42384 Q16832 (DDR2) I R 726 rs121964864 Disease: Spondyloepim etaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665]
42385 Q16832 (DDR2) Y C 740 - Disease: Warburg- Cinotti syndrome (WRCN) [MIM:618175]
42386 Q16832 (DDR2) R C 752 rs121964863 Disease: Spondyloepim etaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665]
42387 Q16836 (HADH) A T 40 rs137853101 Disease: 3-alpha- hydroxyacyl- CoA dehydrogenas e deficiency (HADH deficiency) [MIM:231530]
42388 Q16836 (HADH) D E 57 rs137853102 Disease: 3-alpha- hydroxyacyl- CoA dehydrogenas e deficiency (HADH deficiency) [MIM:231530]
42389 Q16836 (HADH) L P 86 rs4956145 Benign
42390 Q16836 (HADH) Q H 152 rs1051519 Benign
42391 Q16836 (HADH) P L 258 rs137853103 Disease: Familial hyperinsulin emic hypoglycemia 4 (HHF4) [MIM:609975]
42392 Q16849 (PTPRN) S R 419 rs35314717 Benign
42393 Q16850 (CYP51A1) V A 13 rs2229188 Benign
42394 Q16851 (UGP2) M I 268 rs1130982 Benign
42395 Q16853 (AOC3) T R 5 rs33954211 Benign
42396 Q16853 (AOC3) R Q 78 rs402680 Benign
42397 Q16853 (AOC3) H Y 167 rs2228470 Benign
42398 Q16853 (AOC3) V M 171 rs408038 Benign
42399 Q16853 (AOC3) H R 203 rs630079 Benign
42400 Q16853 (AOC3) Y H 317 rs438287 Benign
42401 Q16853 (AOC3) R Q 329 rs2229595 Benign
42402 Q16853 (AOC3) I T 371 rs35097308 Benign
42403 Q16853 (AOC3) A S 408 rs35643019 Benign
42404 Q16853 (AOC3) R H 426 rs33986943 Benign
42405 Q16853 (AOC3) R W 441 rs2229596 Benign
42406 Q16853 (AOC3) A T 582 rs34987927 Benign
42407 Q16853 (AOC3) G S 700 rs477207 Benign
42408 Q16853 (AOC3) A V 749 rs34012919 Benign
42409 Q16854 (DGUOK) E K 44 rs762550967 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
42410 Q16854 (DGUOK) N S 46 rs763615602 Disease: Portal hypertension , non- cirrhotic (NCPH) [MIM:617068]
42411 Q16854 (DGUOK) R K 142 rs104893631 Disease: Mitochondria l DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
42412 Q16854 (DGUOK) N K 154 rs144181978 Disease: Progressive external ophthalmople gia with mitochondria l DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
42413 Q16854 (DGUOK) E K 227 rs104893632 Disease: Mitochondria l DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
42414 Q16854 (DGUOK) L S 250 rs749464475 Disease: Mitochondria l DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
42415 Q16854 (DGUOK) L R 266 rs886037846 Benign
42416 Q16864 (ATP6V1F) G V 24 rs10958 Benign
42417 Q16873 (LTC4S) R Q 142 rs11541078 Benign
42418 Q16878 (CDO1) T I 45 rs1042867 Benign
42419 Q16880 (UGT8) P L 226 rs4148254 Benign
42420 Q16880 (UGT8) I M 368 rs11098261 Benign
42421 Q16881 (TXNRD1) D G 365 rs1127954 Benign
42422 Q16890 (TPD52L1) R K 62 rs6905231 Benign
42423 Q16891 (IMMT) P S 124 rs1050301 Benign
42424 Q16891 (IMMT) A V 294 rs35233009 Benign
42425 Q17R55 (FAM187B) P S 3 rs34873156 Benign
42426 Q17R55 (FAM187B) C R 160 rs565791 Benign
42427 Q17R55 (FAM187B) V I 216 rs564117 Benign
42428 Q17R60 (IMPG1) L R 238 rs713993045 Disease: Macular dystrophy, vitelliform, 4 (VMD4) [MIM:616151]
42429 Q17R60 (IMPG1) G V 463 rs9443201 Benign
42430 Q17R60 (IMPG1) H D 518 rs3734311 Benign
42431 Q17R60 (IMPG1) K R 569 rs3734312 Benign
42432 Q17R60 (IMPG1) R W 704 rs10943299 Benign
42433 Q17R60 (IMPG1) R H 711 rs3734313 Benign
42434 Q17R60 (IMPG1) S N 761 rs3778005 Benign
42435 Q17R89 (ARHGAP44) V M 463 rs3213688 Benign
42436 Q17RB8 (LONRF1) I L 265 rs1139354 Benign
42437 Q17RC7 (EXOC3L4) R W 77 rs2297067 Benign
42438 Q17RC7 (EXOC3L4) D E 93 rs2297066 Benign
42439 Q17RC7 (EXOC3L4) L H 185 rs10131298 Benign
42440 Q17RC7 (EXOC3L4) Q R 675 rs729184 Benign
42441 Q17RC7 (EXOC3L4) Q E 685 rs744153 Benign
42442 Q17RD7 (SYT16) V A 10 rs8019076 Benign
42443 Q17RD7 (SYT16) R L 131 rs17099370 Benign
42444 Q17RF5 (ODAPH) P L 30 rs2306175 Benign
42445 Q17RF5 (ODAPH) R H 109 rs2306174 Benign
42446 Q17RG1 (KCTD19) E K 750 rs16957289 Benign
42447 Q17RM4 (CCDC142) R Q 534 rs13385919 Benign
42448 Q17RN3 (FAM98C) T K 240 rs3745962 Benign
42449 Q17RP2 (TIGD6) R W 59 rs9324636 Benign
42450 Q17RP2 (TIGD6) Q R 327 rs10875553 Benign
42451 Q17RQ9 (NKPD1) V L 118 rs3810144 Benign
42452 Q17RR3 (PNLIPRP3) L F 2 rs10885929 Benign
42453 Q17RR3 (PNLIPRP3) F L 332 rs7077408 Benign
42454 Q17RR3 (PNLIPRP3) V I 381 rs10736251 Benign
42455 Q17RR3 (PNLIPRP3) R G 382 rs1897519 Benign
42456 Q17RR3 (PNLIPRP3) F Y 450 rs2116286 Benign
42457 Q17RS7 (GEN1) S T 92 rs1812152 Benign
42458 Q17RS7 (GEN1) N S 143 rs16981869 Benign
42459 Q17RS7 (GEN1) I V 203 rs10177628 Benign
42460 Q17RS7 (GEN1) S N 310 rs300175 Benign
42461 Q17RS7 (GEN1) T I 680 rs300169 Benign
42462 Q17RS7 (GEN1) R C 898 rs17315702 Benign
42463 Q17RW2 (COL24A1) A V 61 rs11161747 Benign
42464 Q17RW2 (COL24A1) P L 151 rs1027819 Benign
42465 Q17RW2 (COL24A1) I T 293 rs17128866 Benign
42466 Q17RW2 (COL24A1) M L 481 rs10493784 Benign
42467 Q17RW2 (COL24A1) P S 546 rs11161732 Benign
42468 Q17RW2 (COL24A1) R H 641 rs60891279 Benign
42469 Q17RW2 (COL24A1) P S 731 rs641712 Benign
42470 Q17RW2 (COL24A1) G R 1423 rs7520146 Benign
42471 Q18PE1 (DOK7) E K 3 rs763233743 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42472 Q18PE1 (DOK7) P T 31 - Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42473 Q18PE1 (DOK7) A V 33 - Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42474 Q18PE1 (DOK7) S L 45 rs62272670 Benign
42475 Q18PE1 (DOK7) T M 77 rs940346413 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42476 Q18PE1 (DOK7) A V 99 rs138010842 Benign
42477 Q18PE1 (DOK7) G C 109 - Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42478 Q18PE1 (DOK7) V M 116 rs1429428597 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42479 Q18PE1 (DOK7) H Q 132 - Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42480 Q18PE1 (DOK7) V L 139 rs571769859 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42481 Q18PE1 (DOK7) P L 146 rs770987150 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42482 Q18PE1 (DOK7) L R 157 - Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42483 Q18PE1 (DOK7) R Q 158 rs6811423 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42484 Q18PE1 (DOK7) G R 161 rs758131044 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42485 Q18PE1 (DOK7) G R 166 rs781227659 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42486 Q18PE1 (DOK7) G D 171 rs1286619522 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42487 Q18PE1 (DOK7) G R 171 - Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42488 Q18PE1 (DOK7) G R 172 rs768892432 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42489 Q18PE1 (DOK7) G A 180 rs118203994 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42490 Q18PE1 (DOK7) G V 180 - Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42491 Q18PE1 (DOK7) D N 197 rs16844422 Benign
42492 Q18PE1 (DOK7) R H 261 rs16844460 Benign
42493 Q18PE1 (DOK7) H Q 272 rs115614731 Benign
42494 Q18PE1 (DOK7) Q R 296 rs6811423 Benign
42495 Q18PE1 (DOK7) R C 323 rs150728781 Benign
42496 Q18PE1 (DOK7) G R 379 rs6831659 Benign
42497 Q18PE1 (DOK7) E K 382 rs560463670 Benign
42498 Q18PE1 (DOK7) R Q 402 rs370039804 Benign
42499 Q18PE1 (DOK7) P S 415 rs16844464 Benign
42500 Q18PE1 (DOK7) G D 427 rs2020433 Benign
42501 Q18PE1 (DOK7) A T 440 rs753026831 Benign
42502 Q18PE1 (DOK7) R W 451 rs16844470 Benign
42503 Q18PE1 (DOK7) G D 461 rs9684786 Benign
42504 Q18PE1 (DOK7) P H 469 rs147185207 Disease: Myasthenic syndrome, congenital, 10 (CMS10) [MIM:254300]
42505 Q18PE1 (DOK7) P T 503 rs184556570 Benign
42506 Q1AE95 (TMEM183B) M V 193 rs7630407 Benign
42507 Q1ED39 (KNOP1) R Q 28 rs11640454 Benign
42508 Q1ED39 (KNOP1) A V 266 rs2074036 Benign
42509 Q1ED39 (KNOP1) V A 276 rs28424569 Benign
42510 Q1EHB4 (SLC5A12) V L 510 rs12278761 Benign
42511 Q1HG43 (DUOXA1) P L 19 rs34734975 Benign
42512 Q1HG43 (DUOXA1) S G 313 rs16977686 Benign
42513 Q1HG44 (DUOXA2) R G 100 rs2576090 Benign
42514 Q1L5Z9 (LONRF2) L P 183 rs4851287 Benign
42515 Q1L5Z9 (LONRF2) L P 426 rs4851287 Benign
42516 Q1L6U9 (MSMP) G V 116 rs3750436 Benign
42517 Q1MSJ5 (CSPP1) R H 907 rs16933182 Benign
42518 Q1MSJ5 (CSPP1) W R 1135 rs1808140 Benign
42519 Q1MX18 (INSC) D N 333 rs17507577 Benign
42520 Q1MX18 (INSC) Q R 450 rs7123855 Benign
42521 Q1X8D7 (LRRC36) R P 222 rs9922085 Benign
42522 Q1X8D7 (LRRC36) G S 509 rs8052655 Benign
42523 Q1X8D7 (LRRC36) S G 744 rs16957415 Benign
42524 Q1ZYL8 (IZUMO4) A T 2 rs17851210 Benign
42525 Q1ZYL8 (IZUMO4) F L 38 rs35585208 Benign
42526 Q1ZYL8 (IZUMO4) Y F 137 rs45506200 Benign
42527 Q24JP5 (TMEM132A) R H 699 rs524523 Benign
42528 Q24JP5 (TMEM132A) A V 969 rs2469887 Benign
42529 Q24JQ0 (TMEM241) L F 131 rs8099409 Benign
42530 Q27J81 (INF2) A T 13 rs201383094 Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42531 Q27J81 (INF2) L P 42 rs267606880 Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42532 Q27J81 (INF2) L P 76 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42533 Q27J81 (INF2) L P 81 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42534 Q27J81 (INF2) C F 104 rs387907035 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
42535 Q27J81 (INF2) C R 104 rs387907034 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
42536 Q27J81 (INF2) C W 104 rs387907036 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
42537 Q27J81 (INF2) V G 105 - Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
42538 Q27J81 (INF2) G D 114 - Benign
42539 Q27J81 (INF2) L P 128 rs387907037 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
42540 Q27J81 (INF2) L P 132 - Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
42541 Q27J81 (INF2) L R 132 rs387907038 Disease: Charcot- Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) [MIM:614455]
42542 Q27J81 (INF2) C R 151 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42543 Q27J81 (INF2) H D 158 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42544 Q27J81 (INF2) L R 162 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42545 Q27J81 (INF2) R C 177 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42546 Q27J81 (INF2) R H 177 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42547 Q27J81 (INF2) N K 183 - Benign
42548 Q27J81 (INF2) E K 184 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42549 Q27J81 (INF2) E Q 184 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42550 Q27J81 (INF2) S P 186 rs267606877 Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42551 Q27J81 (INF2) Y H 193 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42552 Q27J81 (INF2) L R 198 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42553 Q27J81 (INF2) N D 202 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42554 Q27J81 (INF2) A D 203 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42555 Q27J81 (INF2) R C 214 rs912928648 Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42556 Q27J81 (INF2) R H 214 rs267606879 Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42557 Q27J81 (INF2) R Q 218 rs267607183 Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42558 Q27J81 (INF2) R W 218 rs267606878 Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42559 Q27J81 (INF2) E K 220 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42560 Q27J81 (INF2) L P 245 - Disease: Focal segmental glomeruloscl erosis 5 (FSGS5) [MIM:613237]
42561 Q27J81 (INF2) G D 547 rs376451593 Benign
42562 Q27J81 (INF2) P S 1096 rs34251364 Benign
42563 Q27J81 (INF2) T M 1135 rs3803311 Benign
42564 Q27J81 (INF2) G S 1160 rs9672065 Benign
42565 Q29980 (MICB) G E 39 rs45578846 Benign
42566 Q29980 (MICB) P H 68 rs45583740 Benign
42567 Q29980 (MICB) N D 75 rs3131639 Benign
42568 Q29980 (MICB) K E 80 rs1065075 Benign
42569 Q29980 (MICB) D G 88 rs45486091 Benign
42570 Q29980 (MICB) D G 105 rs45502297 Benign
42571 Q29980 (MICB) I M 121 rs3134900 Benign
42572 Q29980 (MICB) D H 136 rs1051788 Benign
42573 Q29980 (MICB) D N 136 rs1051788 Benign
42574 Q29980 (MICB) T I 212 rs41293883 Benign
42575 Q29980 (MICB) E K 215 rs45624537 Benign
42576 Q29980 (MICB) R K 279 rs45587032 Benign
42577 Q29980 (MICB) G S 291 rs41273040 Benign
42578 Q29980 (MICB) A V 300 rs45470602 Benign
42579 Q29980 (MICB) T A 383 rs1065076 Benign
42580 Q29983 (MICA) R P 29 rs9380254 Benign
42581 Q29983 (MICA) W G 37 rs1063630 Benign
42582 Q29983 (MICA) T A 47 rs1051785 Benign
42583 Q29983 (MICA) V G 49 rs17200158 Benign
42584 Q29983 (MICA) C Y 59 rs1051786 Benign
42585 Q29983 (MICA) Q R 114 rs41558312 Benign
42586 Q29983 (MICA) R K 128 rs41557113 Benign
42587 Q29983 (MICA) G R 137 rs41556715 Benign
42588 Q29983 (MICA) L V 145 rs1051790 Benign
42589 Q29983 (MICA) T S 147 rs41539919 Benign
42590 Q29983 (MICA) K E 148 rs1051791 Benign
42591 Q29983 (MICA) M V 152 rs1051792 Benign
42592 Q29983 (MICA) V I 165 rs3819269 Benign
42593 Q29983 (MICA) M V 174 rs41560824 Benign
42594 Q29983 (MICA) H L 179 rs3819268 Benign
42595 Q29983 (MICA) K E 196 rs1051794 Benign
42596 Q29983 (MICA) G S 198 rs1131896 Benign
42597 Q29983 (MICA) V I 199 rs41549718 Benign
42598 Q29983 (MICA) T R 204 rs1131897 Benign
42599 Q29983 (MICA) G S 229 rs1131898 Benign
42600 Q29983 (MICA) Y C 231 rs41546915 Benign
42601 Q29983 (MICA) W R 233 rs1051798 Benign
42602 Q29983 (MICA) T I 236 rs1140700 Benign
42603 Q29983 (MICA) S T 238 rs1051799 Benign
42604 Q29983 (MICA) V L 244 rs41540613 Benign
42605 Q29983 (MICA) W S 253 rs72558175 Benign
42606 Q29983 (MICA) Q R 274 rs1063635 Benign
42607 Q29983 (MICA) R S 279 rs41557614 Benign
42608 Q29983 (MICA) S G 291 rs61759927 Benign
42609 Q29983 (MICA) P A 294 rs41553616 Benign
42610 Q29983 (MICA) V I 328 rs72558178 Benign
42611 Q29983 (MICA) R C 329 rs41554412 Benign
42612 Q29983 (MICA) T M 356 rs41546114 Benign
42613 Q29983 (MICA) D A 373 rs9266825 Benign
42614 Q29983 (MICA) T A 377 rs41545814 Benign
42615 Q29983 (MICA) A T 383 rs1882 Benign
42616 Q2HXU8 (CLEC12B) T N 6 rs1359082 Benign
42617 Q2HXU8 (CLEC12B) V L 116 rs637790 Benign
42618 Q2I0M5 (RSPO4) Q R 65 rs74315420 Disease: Nail disorder, non- syndromic congenital, 4 (NDNC4) [MIM:206800]
42619 Q2I0M5 (RSPO4) C F 95 rs780506366 Disease: Nail disorder, non- syndromic congenital, 4 (NDNC4) [MIM:206800]
42620 Q2I0M5 (RSPO4) R Q 106 rs6140807 Benign
42621 Q2I0M5 (RSPO4) C R 107 rs74315421 Disease: Nail disorder, non- syndromic congenital, 4 (NDNC4) [MIM:206800]
42622 Q2I0M5 (RSPO4) C Y 118 rs74315422 Disease: Nail disorder, non- syndromic congenital, 4 (NDNC4) [MIM:206800]
42623 Q2KHM9 (KIAA0753) H Q 201 rs16955985 Benign
42624 Q2KHM9 (KIAA0753) E D 375 rs9889363 Benign
42625 Q2KHM9 (KIAA0753) E G 375 rs17794522 Benign
42626 Q2KHM9 (KIAA0753) D N 444 rs2289643 Benign
42627 Q2KHM9 (KIAA0753) L P 466 rs2289642 Benign
42628 Q2KHM9 (KIAA0753) V M 501 rs11868877 Benign
42629 Q2KHM9 (KIAA0753) P L 566 rs2304977 Benign
42630 Q2KHM9 (KIAA0753) Q R 896 rs1443417 Benign
42631 Q2KHR2 (RFX7) G V 434 rs16976751 Benign
42632 Q2KHR2 (RFX7) V L 677 rs3803460 Benign
42633 Q2KHR2 (RFX7) L P 1256 rs33984059 Benign
42634 Q2KHR3 (QSER1) V I 385 rs1022586 Benign
42635 Q2KHR3 (QSER1) Q R 644 rs2297781 Benign
42636 Q2KHR3 (QSER1) N S 1018 rs7940077 Benign
42637 Q2KHR3 (QSER1) N D 1304 rs16923676 Benign
42638 Q2KHT3 (CLEC16A) G E 906 rs2241100 Benign
42639 Q2KHT4 (GSG1) F L 39 rs2306765 Benign
42640 Q2KHT4 (GSG1) G V 67 rs11546332 Benign
42641 Q2LD37 (KIAA1109) I T 978 rs6848868 Benign
42642 Q2LD37 (KIAA1109) D E 1951 rs56363411 Benign
42643 Q2LD37 (KIAA1109) S R 2521 rs45608936 Benign
42644 Q2LD37 (KIAA1109) T A 4352 rs2306369 Benign
42645 Q2LD37 (KIAA1109) T A 4786 rs10017270 Benign
42646 Q2M1K9 (ZNF423) N S 629 rs34214571 Benign
42647 Q2M1K9 (ZNF423) P L 913 rs200585917 Disease: Nephronophth isis 14 (NPHP14) [MIM:614844]
42648 Q2M1K9 (ZNF423) H Y 1277 - Disease: Joubert syndrome 19 (JBTS19) [MIM:614844]
42649 Q2M1P5 (KIF7) D N 52 rs8179065 Benign
42650 Q2M1P5 (KIF7) P L 632 rs115857753 Benign
42651 Q2M1P5 (KIF7) R G 641 rs137905815 Disease: Bardet-Biedl syndrome (BBS) [MIM:209900]
42652 Q2M1P5 (KIF7) R Q 702 rs149078926 Disease: Acrocallosal syndrome (ACLS) [MIM:200990]
42653 Q2M1P5 (KIF7) Q R 834 rs138354681 Benign
42654 Q2M1P5 (KIF7) S I 958 rs3803530 Benign
42655 Q2M1P5 (KIF7) Q R 994 rs138410949 Disease: Bardet-Biedl syndrome (BBS) [MIM:209900]
42656 Q2M1P5 (KIF7) G R 1005 rs12900805 Benign
42657 Q2M1P5 (KIF7) N S 1060 rs886039282 Disease: Al-Gazali- Bakalinova syndrome (AGBK) [MIM:607131]
42658 Q2M1P5 (KIF7) R W 1068 rs147191956 Disease: Bardet-Biedl syndrome (BBS) [MIM:209900]
42659 Q2M1P5 (KIF7) H Q 1115 rs142032413 Benign
42660 Q2M1V0 (ISX) S G 28 rs361863 Benign
42661 Q2M1V0 (ISX) P S 57 rs362090 Benign
42662 Q2M1V0 (ISX) R Q 83 rs8140287 Benign
42663 Q2M1V0 (ISX) A V 158 rs7291048 Benign
42664 Q2M1Z3 (ARHGAP31) P L 221 rs751793 Benign
42665 Q2M1Z3 (ARHGAP31) T I 727 rs539048828 Benign
42666 Q2M1Z3 (ARHGAP31) G S 803 rs3732413 Benign
42667 Q2M1Z3 (ARHGAP31) I L 1115 rs12107254 Benign
42668 Q2M1Z3 (ARHGAP31) V M 1366 rs3796360 Benign
42669 Q2M1Z3 (ARHGAP31) T I 1380 rs9852894 Benign
42670 Q2M243 (CCDC27) Q E 54 rs10910021 Benign
42671 Q2M243 (CCDC27) M T 267 rs1181883 Benign
42672 Q2M243 (CCDC27) T M 353 rs10910024 Benign
42673 Q2M243 (CCDC27) P L 390 rs11806371 Benign
42674 Q2M296 (MTHFSD) L V 45 rs34005514 Benign
42675 Q2M296 (MTHFSD) R C 243 rs3751800 Benign
42676 Q2M296 (MTHFSD) A T 244 rs3751801 Benign
42677 Q2M296 (MTHFSD) S C 296 rs3751802 Benign
42678 Q2M296 (MTHFSD) G R 315 rs3751803 Benign
42679 Q2M2E3 (ODF4) W R 34 rs12943505 Benign
42680 Q2M2E3 (ODF4) V M 98 rs12601097 Benign
42681 Q2M2E3 (ODF4) Y C 139 rs12936935 Benign
42682 Q2M2E5 (C5orf64) A T 57 rs16893687 Benign
42683 Q2M2E5 (C5orf64) R W 101 rs436696 Benign
42684 Q2M2I3 (FAM83E) T A 91 rs447802 Benign
42685 Q2M2I3 (FAM83E) P L 311 rs3745728 Benign
42686 Q2M2I3 (FAM83E) R H 372 rs3745727 Benign
42687 Q2M2I5 (KRT24) A T 115 rs9914185 Benign
42688 Q2M2I5 (KRT24) G D 250 rs7211480 Benign
42689 Q2M2I5 (KRT24) M I 267 rs874889 Benign
42690 Q2M2I5 (KRT24) R C 366 rs16966138 Benign
42691 Q2M2I5 (KRT24) C Y 415 rs12945784 Benign
42692 Q2M2I5 (KRT24) W R 418 rs12946793 Benign
42693 Q2M2I5 (KRT24) K E 429 rs2462961 Benign
42694 Q2M2I8 (AAK1) I V 59 rs34535244 Benign
42695 Q2M2I8 (AAK1) K Q 509 rs6715776 Benign
42696 Q2M2I8 (AAK1) Q H 533 rs1263928487 Benign
42697 Q2M2I8 (AAK1) V A 603 rs56038532 Benign
42698 Q2M2I8 (AAK1) T M 694 rs55889248 Benign
42699 Q2M2I8 (AAK1) P T 725 rs35285785 Benign
42700 Q2M2I8 (AAK1) P R 771 rs34422616 Benign
42701 Q2M2I8 (AAK1) G D 835 - Benign
42702 Q2M2W7 (C17orf58) I V 92 rs9891146 Benign
42703 Q2M2Z5 (KIZ) H Q 139 rs4815025 Benign
42704 Q2M2Z5 (KIZ) M T 236 rs2236178 Benign
42705 Q2M329 (CCDC96) E K 96 rs871134 Benign
42706 Q2M385 (MPEG1) A T 467 rs544864 Benign
42707 Q2M385 (MPEG1) P L 552 rs7926933 Benign
42708 Q2M385 (MPEG1) Q R 694 rs17153442 Benign
42709 Q2M389 (WASHC4) V L 323 rs34434425 Benign
42710 Q2M389 (WASHC4) T S 599 rs1345092 Benign
42711 Q2M389 (WASHC4) V I 901 rs1663564 Benign
42712 Q2M389 (WASHC4) P R 1019 rs587777411 Disease: Mental retardation, autosomal recessive 43 (MRT43) [MIM:615817]
42713 Q2M3A8 (MRGPRG-AS) E A 6 rs11026002 Benign
42714 Q2M3A8 (MRGPRG-AS) S F 135 rs11026004 Benign
42715 Q2M3A8 (MRGPRG-AS) G V 142 rs12280457 Benign
42716 Q2M3C6 (TMEM266) R H 391 rs937732 Benign
42717 Q2M3C6 (TMEM266) P L 427 rs937733 Benign
42718 Q2M3C7 (SPHKAP) G R 425 rs4283414 Benign
42719 Q2M3C7 (SPHKAP) K E 617 rs3811514 Benign
42720 Q2M3C7 (SPHKAP) H Q 847 rs3811515 Benign
42721 Q2M3C7 (SPHKAP) Q R 867 rs3828161 Benign
42722 Q2M3C7 (SPHKAP) S R 1603 rs16824283 Benign
42723 Q2M3D2 (EXOC3L2) N D 173 rs10411314 Benign
42724 Q2M3G0 (ABCB5) K E 560 rs2301641 Benign
42725 Q2M3G0 (ABCB5) K R 669 rs13222448 Benign
42726 Q2M3G0 (ABCB5) Q H 905 rs35885925 Benign
42727 Q2M3G0 (ABCB5) A T 915 rs17143304 Benign
42728 Q2M3G0 (ABCB5) E K 970 rs6461515 Benign
42729 Q2M3G4 (SHROOM1) P L 180 rs2292030 Benign
42730 Q2M3M2 (SLC5A9) V I 124 rs141515954 Benign
42731 Q2M3M2 (SLC5A9) V M 152 rs212989 Benign
42732 Q2M3M2 (SLC5A9) M T 207 rs12047252 Benign
42733 Q2M3M2 (SLC5A9) I M 269 rs212991 Benign
42734 Q2M3T9 (HYAL4) A S 346 rs6949082 Benign
42735 Q2M3V2 (SOWAHA) R P 124 rs40274 Benign
42736 Q2M3V2 (SOWAHA) F L 545 rs40470 Benign
42737 Q2M3X9 (ZNF674) L F 182 rs1737367 Benign
42738 Q2M3X9 (ZNF674) T M 343 rs61730637 Benign
42739 Q2NKJ3 (CTC1) A V 227 rs199473673 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 1 (CRMCC1) [MIM:612199]
42740 Q2NKJ3 (CTC1) V M 259 rs387907080 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 1 (CRMCC1) [MIM:612199]
42741 Q2NKJ3 (CTC1) G R 503 rs1320809462 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 1 (CRMCC1) [MIM:612199]
42742 Q2NKJ3 (CTC1) V G 665 rs199473676 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 1 (CRMCC1) [MIM:612199]
42743 Q2NKJ3 (CTC1) I V 820 rs3027238 Benign
42744 Q2NKJ3 (CTC1) R W 840 rs373905859 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 1 (CRMCC1) [MIM:612199]
42745 Q2NKJ3 (CTC1) V M 871 rs369255297 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 1 (CRMCC1) [MIM:612199]
42746 Q2NKJ3 (CTC1) R G 975 rs199473678 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 1 (CRMCC1) [MIM:612199]
42747 Q2NKJ3 (CTC1) R W 987 rs202138550 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 1 (CRMCC1) [MIM:612199]
42748 Q2NKJ3 (CTC1) I V 1005 rs3826543 Benign
42749 Q2NKJ3 (CTC1) L H 1142 rs199473681 Disease: Cerebroretin al microangiopa thy with calcificatio ns and cysts 1 (CRMCC1) [MIM:612199]
42750 Q2NKQ1 (SGSM1) T P 802 rs6004350 Benign
42751 Q2NKQ1 (SGSM1) R K 873 rs2073201 Benign
42752 Q2NL68 (PROSER3) S R 302 rs231219 Benign
42753 Q2NL68 (PROSER3) K N 365 rs231217 Benign
42754 Q2NL82 (TSR1) S G 386 rs2281726 Benign
42755 Q2NL82 (TSR1) N S 719 rs2273983 Benign
42756 Q2NL82 (TSR1) K Q 727 rs35019711 Benign
42757 Q2NL82 (TSR1) H Q 750 rs35343613 Benign
42758 Q2PPJ7 (RALGAPA2) S N 492 rs6137081 Benign
42759 Q2PZI1 (DPY19L1) G V 502 rs1637696 Benign
42760 Q2Q1W2 (TRIM71) R H 608 - Disease: Hydrocephalu s, congenital communicatin g, 1 (HYDCC1) [MIM:618667]
42761 Q2Q1W2 (TRIM71) R H 796 - Disease: Hydrocephalu s, congenital communicatin g, 1 (HYDCC1) [MIM:618667]
42762 Q2QGD7 (ZXDC) P L 562 rs16837497 Benign
42763 Q2T9J0 (TYSND1) T A 65 rs4746970 Benign
42764 Q2T9K0 (TMEM44) H N 24 rs1675955 Benign
42765 Q2T9K0 (TMEM44) R H 232 rs12695036 Benign
42766 Q2T9K0 (TMEM44) Q R 284 rs922282 Benign
42767 Q2TAA5 (ALG11) L S 86 rs267606652 Disease: Congenital disorder of glycosylatio n 1P (CDG1P) [MIM:613661]
42768 Q2TAA5 (ALG11) N S 108 rs17480245 Benign
42769 Q2TAA5 (ALG11) Y S 279 rs387907181 Disease: Congenital disorder of glycosylatio n 1P (CDG1P) [MIM:613661]
42770 Q2TAA5 (ALG11) Q P 318 rs387907184 Disease: Congenital disorder of glycosylatio n 1P (CDG1P) [MIM:613661]
42771 Q2TAA5 (ALG11) L S 381 rs387907182 Disease: Congenital disorder of glycosylatio n 1P (CDG1P) [MIM:613661]
42772 Q2TAA5 (ALG11) E K 398 rs387907183 Disease: Congenital disorder of glycosylatio n 1P (CDG1P) [MIM:613661]
42773 Q2TAC2 (CCDC57) E Q 237 rs34543170 Benign
42774 Q2TAC2 (CCDC57) Q R 321 rs7406116 Benign
42775 Q2TAC2 (CCDC57) V M 480 rs7209474 Benign
42776 Q2TAC2 (CCDC57) R G 774 rs4625783 Benign
42777 Q2TAC2 (CCDC57) D N 776 rs7406163 Benign
42778 Q2TAC2 (CCDC57) A T 777 rs7406162 Benign
42779 Q2TAC2 (CCDC57) Q K 810 rs7213172 Benign
42780 Q2TAC2 (CCDC57) M T 833 rs11077969 Benign
42781 Q2TAC6 (KIF19) R W 471 rs2382644 Benign
42782 Q2TAC6 (KIF19) R H 807 rs2271535 Benign
42783 Q2TAC6 (KIF19) L P 937 rs9891620 Benign
42784 Q2TAC6 (KIF19) R Q 974 rs9675190 Benign
42785 Q2TAK8 (PWWP3A) G R 219 rs3826942 Benign
42786 Q2TAK8 (PWWP3A) G A 551 rs34502536 Benign
42787 Q2TAL5 (SMTNL2) A T 162 rs12449695 Benign
42788 Q2TAL5 (SMTNL2) W R 251 rs9916524 Benign
42789 Q2TAL6 (VWC2) A G 120 rs769604 Benign
42790 Q2TAM9 (TUSC1) N D 123 rs34498078 Benign
42791 Q2TAZ0 (ATG2A) V I 175 rs12293826 Benign
42792 Q2TAZ0 (ATG2A) R C 394 rs35115827 Benign
42793 Q2TAZ0 (ATG2A) A V 404 rs60711419 Benign
42794 Q2TAZ0 (ATG2A) A V 627 rs2285347 Benign
42795 Q2TAZ0 (ATG2A) P R 656 rs656195 Benign
42796 Q2TAZ0 (ATG2A) G R 948 rs11827140 Benign
42797 Q2TB10 (ZNF800) L V 102 rs17865569 Benign
42798 Q2TB90 (HKDC1) D G 54 rs10823320 Benign
42799 Q2TB90 (HKDC1) T I 124 rs874556 Benign
42800 Q2TB90 (HKDC1) L P 204 rs7899445 Benign
42801 Q2TB90 (HKDC1) W R 721 rs1111335 Benign
42802 Q2TB90 (HKDC1) N K 917 rs906219 Benign
42803 Q2TBA0 (KLHL40) D H 34 rs778565563 Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42804 Q2TBA0 (KLHL40) L P 86 - Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42805 Q2TBA0 (KLHL40) V E 194 - Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42806 Q2TBA0 (KLHL40) W L 201 rs397509420 Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42807 Q2TBA0 (KLHL40) R L 311 - Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42808 Q2TBA0 (KLHL40) N S 345 rs6805421 Benign
42809 Q2TBA0 (KLHL40) P L 397 rs773649133 Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42810 Q2TBA0 (KLHL40) H R 455 rs770866675 Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42811 Q2TBA0 (KLHL40) G C 469 rs367579275 Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42812 Q2TBA0 (KLHL40) A P 505 - Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42813 Q2TBA0 (KLHL40) T P 506 rs778022582 Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42814 Q2TBA0 (KLHL40) E K 528 rs397509419 Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42815 Q2TBA0 (KLHL40) A P 538 rs397509421 Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42816 Q2TBA0 (KLHL40) E K 588 rs201856772 Disease: Nemaline myopathy 8 (NEM8) [MIM:615348]
42817 Q2TBA0 (KLHL40) C R 617 rs123509 Benign
42818 Q2TBC4 (PRICKLE4) S R 266 rs28403585 Benign
42819 Q2TBE0 (CWF19L2) P T 210 rs608634 Benign
42820 Q2TBE0 (CWF19L2) H Y 443 rs659040 Benign
42821 Q2TBE0 (CWF19L2) H Q 445 rs35968518 Benign
42822 Q2TBE0 (CWF19L2) G R 537 rs17106909 Benign
42823 Q2TBE0 (CWF19L2) Y C 894 rs3758911 Benign
42824 Q2TBF2 (WSCD2) T I 266 rs3764002 Benign
42825 Q2UY09 (COL28A1) A G 189 rs7804532 Benign
42826 Q2UY09 (COL28A1) I V 239 rs10486180 Benign
42827 Q2UY09 (COL28A1) T S 327 rs10486176 Benign
42828 Q2UY09 (COL28A1) E D 433 rs6952195 Benign
42829 Q2UY09 (COL28A1) I M 437 rs55745506 Benign
42830 Q2UY09 (COL28A1) A P 472 rs17167927 Benign
42831 Q2UY09 (COL28A1) R Q 741 rs17167102 Benign
42832 Q2V2M9 (FHOD3) R W 475 rs9964535 Benign
42833 Q2VIQ3 (KIF4B) E Q 494 rs17116709 Benign
42834 Q2VIQ3 (KIF4B) R L 580 rs6580126 Benign
42835 Q2VIQ3 (KIF4B) R H 680 rs17116710 Benign
42836 Q2VIQ3 (KIF4B) Y C 684 rs10056252 Benign
42837 Q2VPA4 (CR1L) R G 116 rs2296158 Benign
42838 Q2VPA4 (CR1L) I V 139 rs3085 Benign
42839 Q2VPA4 (CR1L) N D 402 rs12729569 Benign
42840 Q2VPA4 (CR1L) I V 455 rs6683902 Benign
42841 Q2VPA4 (CR1L) L P 491 rs2796257 Benign
42842 Q2VPJ9 (LRRC75B) S R 140 rs743370 Benign
42843 Q2VPK5 (CTU2) H Y 186 rs2290895 Benign
42844 Q2VPK5 (CTU2) M V 253 rs11549837 Benign
42845 Q2VPK5 (CTU2) V I 332 rs4782321 Benign
42846 Q2VPK5 (CTU2) Q R 416 rs8059048 Benign
42847 Q2VWA4 (SKOR2) F C 947 rs7235231 Benign
42848 Q2VWP7 (PRTG) T A 236 rs16976466 Benign
42849 Q2VWP7 (PRTG) V L 826 rs10518816 Benign
42850 Q2VWP7 (PRTG) I L 1062 rs1438914 Benign
42851 Q2VY69 (ZNF284) K E 546 rs8113249 Benign
42852 Q2VY69 (ZNF284) E K 577 rs8113249 Benign
42853 Q2WEN9 (CEACAM16) T P 140 rs387907149 Disease: Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614]
42854 Q2WEN9 (CEACAM16) G R 169 rs876661405 Disease: Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614]
42855 Q2WGJ6 (KLHL38) G S 310 rs16898693 Benign
42856 Q2WGJ6 (KLHL38) I V 334 rs11784192 Benign
42857 Q2WGJ6 (KLHL38) R K 346 rs11780509 Benign
42858 Q2WGJ6 (KLHL38) N Y 352 rs11784175 Benign
42859 Q2WGJ6 (KLHL38) G R 394 rs16898691 Benign
42860 Q2WGJ6 (KLHL38) C Y 504 rs11779866 Benign
42861 Q2WGJ9 (FER1L6) D E 1110 rs7012186 Benign
42862 Q2WGN9 (GAB4) L P 273 rs11703655 Benign
42863 Q2Y0W8 (SLC4A8) D A 312 rs35966334 Benign
42864 Q2Y0W8 (SLC4A8) I V 898 rs12318785 Benign
42865 Q2YD98 (UVSSA) C R 32 rs387907164 Disease: UV-sensitive syndrome 3 (UVSS3) [MIM:614640]
42866 Q2YD98 (UVSSA) R H 391 rs2276904 Benign
42867 Q2YD98 (UVSSA) P L 620 rs28522910 Benign
42868 Q30154 (HLA-DRB5) K M 14 rs1064587 Benign
42869 Q30154 (HLA-DRB5) K Q 14 rs701884 Benign
42870 Q30154 (HLA-DRB5) K V 14 - Benign
42871 Q30154 (HLA-DRB5) M T 20 rs17211043 Benign
42872 Q30154 (HLA-DRB5) L S 28 - Benign
42873 Q30154 (HLA-DRB5) R Q 33 rs1141741 Benign
42874 Q30154 (HLA-DRB5) R C 35 rs1136744 Benign
42875 Q30154 (HLA-DRB5) K T 41 rs200581589 Benign
42876 Q30154 (HLA-DRB5) H Q 57 rs202185589 Benign
42877 Q30154 (HLA-DRB5) D G 59 rs41546317 Benign
42878 Q30154 (HLA-DRB5) N H 62 rs1059576 Benign
42879 Q30154 (HLA-DRB5) D N 66 rs707956 Benign
42880 Q30154 (HLA-DRB5) D Y 66 rs707956 Benign
42881 Q30154 (HLA-DRB5) L V 67 rs1059580 Benign
42882 Q30154 (HLA-DRB5) A E 87 - Benign
42883 Q30154 (HLA-DRB5) Y S 89 rs41541218 Benign
42884 Q30154 (HLA-DRB5) F I 96 rs696318 Benign
42885 Q30154 (HLA-DRB5) F L 96 rs696318 Benign
42886 Q30154 (HLA-DRB5) D E 99 rs41559913 Benign
42887 Q30154 (HLA-DRB5) D G 99 rs41545413 Benign
42888 Q30154 (HLA-DRB5) D H 99 rs41547217 Benign
42889 Q30154 (HLA-DRB5) D N 99 rs41547217 Benign
42890 Q30154 (HLA-DRB5) D Q 99 - Benign
42891 Q30154 (HLA-DRB5) D R 99 - Benign
42892 Q30154 (HLA-DRB5) R A 100 - Benign
42893 Q30154 (HLA-DRB5) R G 100 rs41551116 Benign
42894 Q30154 (HLA-DRB5) R T 100 rs41544215 Benign
42895 Q30154 (HLA-DRB5) A E 103 rs1059598 Benign
42896 Q30154 (HLA-DRB5) A L 103 - Benign
42897 Q30154 (HLA-DRB5) T N 106 rs115817940 Benign
42898 Q30154 (HLA-DRB5) Y V 107 - Benign
42899 Q30154 (HLA-DRB5) V A 114 rs1136778 Benign
42900 Q30154 (HLA-DRB5) G V 115 rs41556512 Benign
42901 Q30154 (HLA-DRB5) G A 154 rs113395425 Benign
42902 Q30154 (HLA-DRB5) S G 164 rs1059633 Benign
42903 Q30154 (HLA-DRB5) T I 186 rs41559420 Benign
42904 Q30154 (HLA-DRB5) V I 232 rs41553512 Benign
42905 Q30201 (HFE) G D 43 - Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42906 Q30201 (HFE) V M 53 rs28934889 Benign
42907 Q30201 (HFE) V M 59 rs111033557 Benign
42908 Q30201 (HFE) H D 63 rs1799945 Benign
42909 Q30201 (HFE) S C 65 rs1800730 Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42910 Q30201 (HFE) R C 66 rs747739169 Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42911 Q30201 (HFE) G R 93 rs28934597 Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42912 Q30201 (HFE) I T 105 rs28934596 Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42913 Q30201 (HFE) Q H 127 rs28934595 Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42914 Q30201 (HFE) T I 217 rs4986950 Benign
42915 Q30201 (HFE) R Q 224 rs62625346 Benign
42916 Q30201 (HFE) R G 224 - Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42917 Q30201 (HFE) E K 277 rs140080192 Benign
42918 Q30201 (HFE) C Y 282 rs1800562 Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42919 Q30201 (HFE) Q P 283 rs111033563 Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42920 Q30201 (HFE) V A 295 rs143175221 Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42921 Q30201 (HFE) R M 330 rs111033558 Disease: Hemochromato sis 1 (HFE1) [MIM:235200]
42922 Q30KQ4 (DEFB116) Q L 19 rs6119768 Benign
42923 Q32M45 (ANO4) G A 115 rs34162417 Benign
42924 Q32M84 (BTBD16) R Q 318 rs2421013 Benign
42925 Q32M84 (BTBD16) G D 331 rs986178 Benign
42926 Q32M84 (BTBD16) H P 439 rs1048347 Benign
42927 Q32M84 (BTBD16) Q R 472 rs10510108 Benign
42928 Q32M92 (C15orf32) A T 17 rs1455773 Benign
42929 Q32MH5 (FAM214A) Q R 135 rs8036680 Benign
42930 Q32MH5 (FAM214A) V I 560 rs12915981 Benign
42931 Q32MK0 (MYLK3) S T 70 rs9923813 Benign
42932 Q32MK0 (MYLK3) V L 180 rs28407821 Benign
42933 Q32MQ0 (ZNF750) M V 235 rs8074277 Benign
42934 Q32MQ0 (ZNF750) P L 288 rs35653278 Benign
42935 Q32MQ0 (ZNF750) Q R 392 rs34687659 Benign
42936 Q32MZ4 (LRRFIP1) Q R 275 rs3213869 Benign
42937 Q32MZ4 (LRRFIP1) N S 418 rs2001301 Benign
42938 Q32MZ4 (LRRFIP1) E K 609 rs761312145 Benign
42939 Q32MZ4 (LRRFIP1) K E 633 rs3739041 Benign
42940 Q32MZ4 (LRRFIP1) P L 645 rs3739040 Benign
42941 Q32MZ4 (LRRFIP1) R G 779 rs3739039 Benign
42942 Q32MZ4 (LRRFIP1) H D 783 rs3739038 Benign
42943 Q32NC0 (C18orf21) T A 132 rs2276314 Benign
42944 Q32P28 (P3H1) G R 349 rs6700677 Benign
42945 Q32P28 (P3H1) P R 506 rs3738501 Benign
42946 Q32P28 (P3H1) M I 549 rs11581921 Benign
42947 Q32P28 (P3H1) Q K 644 rs3738497 Benign
42948 Q32P41 (TRMT5) S P 217 rs7142228 Benign
42949 Q32P41 (TRMT5) L P 255 rs2882686 Benign
42950 Q32P41 (TRMT5) R H 291 rs746738473 Disease: Combined oxidative phosphorylat ion deficiency 26 (COXPD26) [MIM:616539]
42951 Q32P41 (TRMT5) E A 294 rs2296928 Benign
42952 Q32P41 (TRMT5) M V 386 rs1057517685 Disease: Combined oxidative phosphorylat ion deficiency 26 (COXPD26) [MIM:616539]
42953 Q32P44 (EML3) Q K 620 rs34098002 Benign
42954 Q32P51 (HNRNPA1L2) N D 215 rs9536212 Benign
42955 Q330K2 (NDUFAF6) D V 69 rs1057519085 Disease: Mitochondria l complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
42956 Q330K2 (NDUFAF6) S P 76 rs1057519084 Disease: Mitochondria l complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
42957 Q330K2 (NDUFAF6) Q R 99 rs137853184 Disease: Mitochondria l complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
42958 Q330K2 (NDUFAF6) I T 124 rs201732170 Disease: Mitochondria l complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
42959 Q330K2 (NDUFAF6) H D 269 rs768273248 Disease: Mitochondria l complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
42960 Q330K2 (NDUFAF6) R G 274 rs1057519086 Disease: Mitochondria l complex I deficiency, nuclear type 17 (MC1DN17) [MIM:618239]
42961 Q33E94 (RFX4) S N 687 - Benign
42962 Q33E94 (RFX4) S A 698 rs17038766 Benign
42963 Q38SD2 (LRRK1) A T 1803 - Benign
42964 Q38SD2 (LRRK1) L F 1824 - Benign
42965 Q38SD2 (LRRK1) S N 1847 - Benign
42966 Q38SD2 (LRRK1) D G 1927 - Benign
42967 Q3B7J2 (GFOD2) G V 231 rs11539687 Benign
42968 Q3B820 (FAM161A) I M 107 rs11125895 Benign
42969 Q3B820 (FAM161A) I V 236 rs17513722 Benign
42970 Q3B820 (FAM161A) E K 273 rs6733774 Benign
42971 Q3BBV0 (NBPF1) I M 20 rs9730080 Benign
42972 Q3BBV0 (NBPF1) N K 31 rs9730077 Benign
42973 Q3BBV0 (NBPF1) A T 510 rs681623 Benign
42974 Q3BBV0 (NBPF1) C G 591 rs3738661 Benign
42975 Q3BBV0 (NBPF1) M V 612 rs672812 Benign
42976 Q3BBV0 (NBPF1) C R 663 rs28453011 Benign
42977 Q3BBV0 (NBPF1) D H 712 rs3901680 Benign
42978 Q3BBV0 (NBPF1) K E 726 rs3901679 Benign
42979 Q3BBV0 (NBPF1) P Q 734 rs9727080 Benign
42980 Q3BBV0 (NBPF1) K Q 850 - Benign
42981 Q3I5F7 (ACOT6) E K 166 rs17782052 Benign
42982 Q3KNS1 (PTCHD3) T A 126 rs12098477 Benign
42983 Q3KNS1 (PTCHD3) L P 152 rs6482626 Benign
42984 Q3KNS1 (PTCHD3) A G 224 rs12098562 Benign
42985 Q3KNS1 (PTCHD3) R K 372 rs2152099 Benign
42986 Q3KNS1 (PTCHD3) C G 407 rs2484180 Benign
42987 Q3KNS1 (PTCHD3) D G 473 rs2429485 Benign
42988 Q3KNS1 (PTCHD3) M T 521 rs2505327 Benign
42989 Q3KNS1 (PTCHD3) I M 584 rs1638630 Benign
42990 Q3KNW5 (SLC10A6) S F 6 rs17694522 Benign
42991 Q3KNW5 (SLC10A6) I V 114 rs13106574 Benign
42992 Q3KP44 (ANKRD55) V M 345 rs321776 Benign
42993 Q3KP44 (ANKRD55) R Q 594 rs34879141 Benign
42994 Q3KP66 (INAVA) Y F 333 rs41313912 Disease: Inflammatory bowel disease 29 (IBD29) [MIM:618077]
42995 Q3KP66 (INAVA) R C 538 rs296520 Benign
42996 Q3KPI0 (CEACAM21) T N 121 rs714106 Benign
42997 Q3KPI0 (CEACAM21) M V 198 rs2302188 Benign
42998 Q3KQU3 (MAP7D1) R W 104 rs2296266 Benign
42999 Q3KQU3 (MAP7D1) R S 531 rs12563354 Benign
43000 Q3KQV3 (ZNF792) R Q 177 rs2651079 Benign
43001 Q3KQV3 (ZNF792) R W 525 rs3746244 Benign
43002 Q3KQV9 (UAP1L1) A V 319 rs7037849 Benign
43003 Q3KQV9 (UAP1L1) P S 373 rs1122444 Benign
43004 Q3KR16 (PLEKHG6) A T 35 rs740842 Benign
43005 Q3KRA6 (C2orf76) I V 46 rs1132267 Benign
43006 Q3KRA6 (C2orf76) K R 116 rs1052500 Benign
43007 Q3L8U1 (CHD9) D E 2312 rs6499548 Benign
43008 Q3LFD5 (USP41) Y C 130 rs2542134 Benign
43009 Q3LFD5 (USP41) N S 325 rs2277833 Benign
43010 Q3LHN0 (KRTAP25-1) S P 40 rs8127420 Benign
43011 Q3LHN2 (KRTAP19-2) Y H 5 rs7280687 Benign
43012 Q3LHN2 (KRTAP19-2) G C 32 rs8131735 Benign
43013 Q3LI54 (KRTAP19-8) A T 61 rs7279142 Benign
43014 Q3LI61 (KRTAP20-2) Y H 7 rs8132705 Benign
43015 Q3LI61 (KRTAP20-2) Y C 13 rs8131539 Benign
43016 Q3LI61 (KRTAP20-2) V G 17 rs8132721 Benign
43017 Q3LI67 (KRTAP6-3) Y S 44 rs9305426 Benign
43018 Q3LI67 (KRTAP6-3) Y S 51 rs9305426 Benign
43019 Q3LI73 (KRTAP19-4) Y C 48 rs2298437 Benign
43020 Q3LI76 (KRTAP15-1) L M 43 rs2832873 Benign
43021 Q3LI77 (KRTAP13-4) A T 59 rs2226548 Benign
43022 Q3LI77 (KRTAP13-4) R H 154 rs999597 Benign
43023 Q3LI81 (KRTAP27-1) A V 99 rs2244485 Benign
43024 Q3LIE5 (ADPRM) L R 92 rs34940296 Benign
43025 Q3LIE5 (ADPRM) E G 337 rs406446 Benign
43026 Q3LXA3 (TKFC) A T 185 rs2260655 Benign
43027 Q3LXA3 (TKFC) A G 334 rs35723406 Benign
43028 Q3MHD2 (LSM12) P R 77 rs17854322 Benign
43029 Q3MHD2 (LSM12) V L 173 rs59168537 Benign
43030 Q3MII6 (TBC1D25) N S 277 rs2293948 Benign
43031 Q3MIN7 (RGL3) P H 162 rs167479 Benign
43032 Q3MIN7 (RGL3) A V 164 rs160838 Benign
43033 Q3MIN7 (RGL3) R C 615 rs2291516 Benign
43034 Q3MIP1 (ITPRIPL2) C S 237 rs8051801 Benign
43035 Q3MIP1 (ITPRIPL2) P S 522 rs11074362 Benign
43036 Q3MIS6 (ZNF528) S N 419 rs324109 Benign
43037 Q3MIV0 (KRTAP22-1) L H 26 rs198915 Benign
43038 Q3MIV0 (KRTAP22-1) Y C 29 rs724849 Benign
43039 Q3MIW9 (MUCL3) G R 337 rs11970154 Benign
43040 Q3MIW9 (MUCL3) E K 419 rs3132580 Benign
43041 Q3MIW9 (MUCL3) R Q 517 rs2240804 Benign
43042 Q3MIX3 (ADCK5) S R 17 rs6599528 Benign
43043 Q3MJ13 (WDR72) M V 100 rs690346 Benign
43044 Q3MJ13 (WDR72) K Q 399 rs35258188 Benign
43045 Q3MJ13 (WDR72) Q H 479 rs34123953 Benign
43046 Q3MJ13 (WDR72) K E 781 rs60404950 Benign
43047 Q3MJ13 (WDR72) L F 819 rs17730281 Benign
43048 Q3MJ13 (WDR72) S A 833 rs16966320 Benign
43049 Q3MJ16 (PLA2G4E) N S 400 rs4924595 Benign
43050 Q3MJ16 (PLA2G4E) A T 693 rs8030775 Benign
43051 Q3MUY2 (PIGY) L P 46 rs869025322 Disease: Hyperphospha tasia with mental retardation syndrome 6 (HPMRS6) [MIM:616809]
43052 Q3SX64 (ODF3L2) V A 135 rs34551779 Benign
43053 Q3SXM5 (HSDL1) P S 248 rs11540436 Benign
43054 Q3SXM5 (HSDL1) S C 327 rs4378600 Benign
43055 Q3SXY7 (LRIT3) S N 175 rs4698797 Benign
43056 Q3SXY7 (LRIT3) W L 203 - Disease: Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058]
43057 Q3SXY7 (LRIT3) C Y 328 rs376610215 Disease: Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058]
43058 Q3SXY7 (LRIT3) M L 336 rs764205 Benign
43059 Q3SXY7 (LRIT3) A T 486 rs2347131 Benign
43060 Q3SXY7 (LRIT3) T M 503 rs2347132 Benign
43061 Q3SXY8 (ARL13B) R Q 79 rs121912606 Disease: Joubert syndrome 8 (JBTS8) [MIM:612291]
43062 Q3SXY8 (ARL13B) Y C 86 rs863225430 Disease: Joubert syndrome 8 (JBTS8) [MIM:612291]
43063 Q3SXY8 (ARL13B) R C 200 rs121912608 Disease: Joubert syndrome 8 (JBTS8) [MIM:612291]
43064 Q3SXY8 (ARL13B) T S 348 rs33944211 Benign
43065 Q3SXZ3 (ZNF718) K N 140 rs9684215 Benign
43066 Q3SXZ3 (ZNF718) K R 140 rs9684214 Benign
43067 Q3SXZ3 (ZNF718) S Y 297 rs7677201 Benign
43068 Q3SXZ3 (ZNF718) H R 413 rs7440274 Benign
43069 Q3SXZ7 (TTLL9) Y C 76 rs17093689 Benign
43070 Q3SY00 (TSGA10IP) A V 210 rs565921 Benign
43071 Q3SY00 (TSGA10IP) R S 237 rs7927388 Benign
43072 Q3SY00 (TSGA10IP) S N 292 rs7927826 Benign
43073 Q3SY00 (TSGA10IP) R P 305 rs7927841 Benign
43074 Q3SY00 (TSGA10IP) M V 521 rs491973 Benign
43075 Q3SY05 (LINC00303) V A 98 rs4951039 Benign
43076 Q3SY17 (SLC25A52) L I 239 rs3859364 Benign
43077 Q3SY56 (SP6) V I 156 rs34309518 Benign
43078 Q3SY77 (UGT3A2) Y N 74 rs2197514 Benign
43079 Q3SY84 (KRT71) V I 107 rs665522 Benign
43080 Q3SY84 (KRT71) E K 122 rs665470 Benign
43081 Q3SY84 (KRT71) F C 141 rs587777545 Disease: Hypotrichosi s 13 (HYPT13) [MIM:615896]
43082 Q3SY84 (KRT71) I F 355 rs35988863 Benign
43083 Q3SY84 (KRT71) V G 464 rs10783518 Benign
43084 Q3SY84 (KRT71) R Q 523 rs2292506 Benign
43085 Q3SYC2 (MOGAT2) M V 9 rs554202 Benign
43086 Q3SYC2 (MOGAT2) P H 196 rs34582952 Benign
43087 Q3SYC2 (MOGAT2) C Y 313 rs12281468 Benign
43088 Q3SYG4 (BBS9) T A 12 rs4498440 Benign
43089 Q3SYG4 (BBS9) G R 141 rs137852857 Disease: Bardet-Biedl syndrome 9 (BBS9) [MIM:615986]
43090 Q3SYG4 (BBS9) A T 455 rs11773504 Benign
43091 Q3SYG4 (BBS9) A V 455 rs764873070 Benign
43092 Q3SYG4 (BBS9) R Q 521 rs34218557 Benign
43093 Q3SYG4 (BBS9) T I 549 rs59252892 Benign
43094 Q3SYG4 (BBS9) L F 665 rs116262072 Benign
43095 Q3SYG4 (BBS9) L Q 779 rs142434516 Benign
43096 Q3T8J9 (GON4L) L F 150 rs3738586 Benign
43097 Q3T8J9 (GON4L) T A 416 rs34939643 Benign
43098 Q3T8J9 (GON4L) S P 1197 rs676814 Benign
43099 Q3T8J9 (GON4L) M V 1418 rs2297775 Benign
43100 Q3T8J9 (GON4L) Q E 1539 rs607790 Benign
43101 Q3T906 (GNPTAB) K Q 4 rs34159654 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43102 Q3T906 (GNPTAB) D G 76 - Disease: Mucolipidosi s type II (MLII) [MIM:252500]
43103 Q3T906 (GNPTAB) W L 81 rs281864953 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43104 Q3T906 (GNPTAB) R L 334 rs281864970 Disease: Mucolipidosi s type II (MLII) [MIM:252500]
43105 Q3T906 (GNPTAB) R Q 334 rs281864970 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43106 Q3T906 (GNPTAB) F L 374 rs137852900 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43107 Q3T906 (GNPTAB) S L 385 - Disease: Mucolipidosi s type II (MLII) [MIM:252500]
43108 Q3T906 (GNPTAB) S F 399 rs281865026 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43109 Q3T906 (GNPTAB) I T 403 rs281864973 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43110 Q3T906 (GNPTAB) D A 407 rs137852895 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43111 Q3T906 (GNPTAB) C Y 442 rs281864975 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43112 Q3T906 (GNPTAB) C G 461 rs281864977 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43113 Q3T906 (GNPTAB) C S 468 rs281864979 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43114 Q3T906 (GNPTAB) G R 575 - Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43115 Q3T906 (GNPTAB) R P 587 - Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43116 Q3T906 (GNPTAB) T M 644 rs386765812 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43117 Q3T906 (GNPTAB) A G 662 rs142172397 Benign
43118 Q3T906 (GNPTAB) K N 732 rs281864989 Disease: Mucolipidosi s type II (MLII) [MIM:252500]
43119 Q3T906 (GNPTAB) Q P 926 rs281865002 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43120 Q3T906 (GNPTAB) H Y 956 rs281865004 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43121 Q3T906 (GNPTAB) R C 986 rs769587233 Disease: Mucolipidosi s type II (MLII) [MIM:252500]
43122 Q3T906 (GNPTAB) L P 1001 rs281865006 Disease: Mucolipidosi s type II (MLII) [MIM:252500]
43123 Q3T906 (GNPTAB) N S 1153 rs281865019 Disease: Mucolipidosi s type III complementat ion group A (MLIIIA) [MIM:252600]
43124 Q3T906 (GNPTAB) E K 1200 rs137853825 Benign
43125 Q3T906 (GNPTAB) K M 1236 - Disease: Mucolipidosi s type II (MLII) [MIM:252500]
43126 Q3V5L5 (MGAT5B) V I 70 rs571264 Benign
43127 Q3YBM2 (TMEM176B) G E 40 rs10240587 Benign
43128 Q3YBM2 (TMEM176B) P S 55 rs11546671 Benign
43129 Q3YBM2 (TMEM176B) T A 70 rs28434777 Benign
43130 Q3YBM2 (TMEM176B) S R 94 rs3173833 Benign
43131 Q3YBM2 (TMEM176B) A T 134 rs2072443 Benign
43132 Q3YBM2 (TMEM176B) R W 180 rs17256042 Benign
43133 Q3YEC7 (RABL6) E Q 382 rs2811741 Benign
43134 Q3ZCM7 (TUBB8) R K 2 rs869025273 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43135 Q3ZCM7 (TUBB8) S L 176 rs869025609 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43136 Q3ZCM7 (TUBB8) I V 210 rs781853492 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43137 Q3ZCM7 (TUBB8) V A 229 rs869025271 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43138 Q3ZCM7 (TUBB8) T M 238 rs1057520306 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43139 Q3ZCM7 (TUBB8) V M 255 rs782269374 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43140 Q3ZCM7 (TUBB8) R Q 262 rs869025610 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43141 Q3ZCM7 (TUBB8) R W 262 rs782486119 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43142 Q3ZCM7 (TUBB8) T P 285 - Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43143 Q3ZCM7 (TUBB8) M I 300 rs869025612 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43144 Q3ZCM7 (TUBB8) L F 345 rs4880608 Benign
43145 Q3ZCM7 (TUBB8) N S 348 rs1270068662 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43146 Q3ZCM7 (TUBB8) M T 363 rs869025611 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43147 Q3ZCM7 (TUBB8) D N 417 rs869025272 Disease: Oocyte maturation defect 2 (OOMD2) [MIM:616780]
43148 Q3ZCN5 (OTOGL) C R 1378 rs768182016 Benign
43149 Q3ZCQ2 (ANXA2R) Q R 119 rs1054428 Benign
43150 Q3ZCQ2 (ANXA2R) R W 186 rs10971 Benign
43151 Q3ZCQ3 (FAM174B) S L 116 rs34052034 Benign
43152 Q3ZCT8 (KBTBD12) Q K 22 rs4141499 Benign
43153 Q3ZCV2 (LEXM) G C 126 rs9782980 Benign
43154 Q3ZCV2 (LEXM) H Y 205 rs600499 Benign
43155 Q3ZCX4 (ZNF568) M T 437 rs547483 Benign
43156 Q3ZCX4 (ZNF568) Q R 642 rs1644634 Benign
43157 Q400G9 (AMZ1) R H 491 rs7776970 Benign
43158 Q401N2 (ZACN) A T 152 rs2257020 Benign
43159 Q460N3 (PARP15) R K 337 rs6793271 Benign
43160 Q460N3 (PARP15) A T 521 rs34383355 Benign
43161 Q460N3 (PARP15) G R 628 rs12489170 Benign
43162 Q494R4 (CCDC153) R H 101 rs2301574 Benign
43163 Q494U1 (PLEKHN1) R P 487 rs3829740 Benign
43164 Q494X3 (ZNF404) H Y 233 rs12977303 Benign
43165 Q494X3 (ZNF404) G S 337 rs239942 Benign
43166 Q495A1 (TIGIT) I V 33 rs13098836 Benign
43167 Q495B1 (ANKDD1A) K E 355 rs34988193 Benign
43168 Q495C1 (RNF212) V I 263 rs17728127 Benign
43169 Q495D7 (LINC01559) P L 38 rs11055389 Benign
43170 Q495D7 (LINC01559) A E 76 rs17821405 Benign
43171 Q495D7 (LINC01559) I V 84 rs7308685 Benign
43172 Q495M3 (SLC36A2) G V 87 rs77010315 Disease: Iminoglycinu ria (IG) [MIM:242600]
43173 Q495M3 (SLC36A2) A V 445 rs10042608 Benign
43174 Q495M9 (USH1G) L P 48 rs104894651 Disease: Usher syndrome 1G (USH1G) [MIM:606943]
43175 Q495M9 (USH1G) M V 104 rs149529031 Disease: -
43176 Q495M9 (USH1G) D V 458 rs397517925 Disease: Usher syndrome 1G (USH1G) [MIM:606943]
43177 Q495N2 (SLC36A3) K E 167 rs978012 Benign
43178 Q495N2 (SLC36A3) P S 185 rs12520516 Benign
43179 Q495N2 (SLC36A3) R H 190 rs17660042 Benign
43180 Q495N2 (SLC36A3) E D 415 rs13155282 Benign
43181 Q495N2 (SLC36A3) S F 421 rs13155520 Benign
43182 Q495T6 (MMEL1) M T 518 rs3748816 Benign
43183 Q495W5 (FUT11) S A 51 rs17853514 Benign
43184 Q495Z4 (ASB16-AS1) S R 32 rs7217858 Benign
43185 Q495Z4 (ASB16-AS1) C R 114 rs7212573 Benign
43186 Q496A3 (SPATS1) G R 8 rs10948132 Benign
43187 Q496F6 (CD300E) K T 19 rs581157 Benign
43188 Q496F6 (CD300E) G R 158 rs1878061 Benign
43189 Q496J9 (SV2C) T S 482 rs2270927 Benign
43190 Q496J9 (SV2C) D N 543 rs31244 Benign
43191 Q499Z3 (SLFNL1) A T 30 rs1138293 Benign
43192 Q499Z3 (SLFNL1) R S 128 rs17851964 Benign
43193 Q499Z3 (SLFNL1) R T 144 rs3738368 Benign
43194 Q49A26 (GLYR1) N D 103 rs34176249 Benign
43195 Q49A26 (GLYR1) Q H 459 rs2085329 Benign
43196 Q49A26 (GLYR1) Y C 531 rs17703111 Benign
43197 Q49A88 (CCDC14) T P 365 rs17310144 Benign
43198 Q49A92 (C8orf34) A T 512 rs16935065 Benign
43199 Q49AA0 (ZFP69) V L 113 rs34752670 Benign
43200 Q49AG3 (ZBED5) A V 17 rs2232918 Benign
43201 Q49AG3 (ZBED5) Q R 47 rs2232919 Benign
43202 Q49AG3 (ZBED5) P S 77 rs2232920 Benign
43203 Q49AG3 (ZBED5) I V 480 rs1046297 Benign
43204 Q49AJ0 (FAM135B) I V 477 rs7835830 Benign
43205 Q49AJ0 (FAM135B) S N 578 rs57534956 Benign
43206 Q49AJ0 (FAM135B) D N 846 rs2978180 Benign
43207 Q49AJ0 (FAM135B) V I 1142 rs35765793 Benign
43208 Q49AM1 (MTERF2) L V 14 rs34238336 Benign
43209 Q49AM1 (MTERF2) A V 31 rs35305400 Benign
43210 Q49AM1 (MTERF2) A G 81 rs35548605 Benign
43211 Q49AM1 (MTERF2) V I 198 rs1043157 Benign
43212 Q49AM3 (TTC31) A V 28 rs6707475 Benign
43213 Q49AM3 (TTC31) T P 205 rs35852562 Benign
43214 Q49AR2 (C5orf22) T P 235 rs17410000 Benign
43215 Q49AR2 (C5orf22) D E 405 rs16901277 Benign
43216 Q49MG5 (MAP9) M V 146 rs34082815 Benign
43217 Q49MG5 (MAP9) R W 177 rs3733391 Benign
43218 Q49MG5 (MAP9) K R 499 rs1058992 Benign
43219 Q49MG5 (MAP9) N D 601 rs2305050 Benign
43220 Q49MI3 (CERKL) R S 106 rs569826109 Disease: Retinitis pigmentosa 26 (RP26) [MIM:608380]
43221 Q49MI3 (CERKL) L F 232 rs10185262 Benign
43222 Q49MI3 (CERKL) E G 514 rs35955809 Benign
43223 Q4AC94 (C2CD3) P R 773 rs34050666 Benign
43224 Q4AC94 (C2CD3) R Q 997 rs11235995 Benign
43225 Q4AC94 (C2CD3) C G 1029 rs587777654 Disease: Orofaciodigi tal syndrome 14 (OFD14) [MIM:615948]
43226 Q4AC94 (C2CD3) R Q 1219 rs826058 Benign
43227 Q4AC94 (C2CD3) Y C 1297 rs1095423 Benign
43228 Q4AC94 (C2CD3) S N 1663 rs12419308 Benign
43229 Q4AC94 (C2CD3) G C 1743 rs1064793399 Benign
43230 Q4AC94 (C2CD3) G W 1831 rs1632245 Benign
43231 Q4AC94 (C2CD3) R G 1832 rs1632242 Benign
43232 Q4AC99 (ACCSL) C R 529 rs2074051 Benign
43233 Q4ADV7 (RIC1) R P 1265 - Disease: CATIFA syndrome (CATIFA) [MIM:618761]
43234 Q4AE62 (GTDC1) M I 137 rs3731958 Benign
43235 Q4FZB7 (KMT5B) N I 9 rs2512606 Benign
43236 Q4G0A6 (MINDY4) D A 183 rs34357272 Benign
43237 Q4G0A6 (MINDY4) S L 262 rs17159453 Benign
43238 Q4G0A6 (MINDY4) T M 322 rs12701034 Benign
43239 Q4G0A6 (MINDY4) R K 324 rs35897481 Benign
43240 Q4G0A6 (MINDY4) A V 355 rs12672119 Benign
43241 Q4G0A6 (MINDY4) C Y 465 rs34970833 Benign
43242 Q4G0A6 (MINDY4) M V 655 rs10216063 Benign
43243 Q4G0N8 (SLC9C1) I V 158 rs9828502 Benign
43244 Q4G0N8 (SLC9C1) I V 286 rs9872691 Benign
43245 Q4G0N8 (SLC9C1) I M 348 rs9809404 Benign
43246 Q4G0N8 (SLC9C1) I V 364 rs9809384 Benign
43247 Q4G0N8 (SLC9C1) T A 424 rs6768523 Benign
43248 Q4G0N8 (SLC9C1) T I 705 rs4434123 Benign
43249 Q4G0N8 (SLC9C1) Q K 732 rs6781844 Benign
43250 Q4G0N8 (SLC9C1) S I 768 rs9288938 Benign
43251 Q4G0N8 (SLC9C1) G S 826 rs28516377 Benign
43252 Q4G0P3 (HYDIN) R P 451 rs7200485 Benign
43253 Q4G0P3 (HYDIN) T N 584 rs7200126 Benign
43254 Q4G0P3 (HYDIN) T A 690 rs10744982 Benign
43255 Q4G0P3 (HYDIN) N D 724 rs3817211 Benign
43256 Q4G0P3 (HYDIN) I V 1077 rs6416709 Benign
43257 Q4G0P3 (HYDIN) V L 1228 rs1774513 Benign
43258 Q4G0P3 (HYDIN) I V 1534 rs1774303 Benign
43259 Q4G0P3 (HYDIN) V M 1718 rs783762 Benign
43260 Q4G0P3 (HYDIN) R H 1892 rs783732 Benign
43261 Q4G0P3 (HYDIN) R Q 1952 rs17321570 Benign
43262 Q4G0P3 (HYDIN) R C 2087 rs1774541 Benign
43263 Q4G0P3 (HYDIN) V M 2099 rs1798337 Benign
43264 Q4G0P3 (HYDIN) Q R 2242 rs2258307 Benign
43265 Q4G0P3 (HYDIN) Q R 2276 rs1815707 Benign
43266 Q4G0P3 (HYDIN) R G 2298 rs1774360 Benign
43267 Q4G0P3 (HYDIN) E G 2306 rs2502726 Benign
43268 Q4G0P3 (HYDIN) N I 2445 rs1798532 Benign
43269 Q4G0P3 (HYDIN) P Q 2455 rs1798531 Benign
43270 Q4G0P3 (HYDIN) L S 2502 rs1798529 Benign
43271 Q4G0P3 (HYDIN) K E 2530 rs1798528 Benign
43272 Q4G0P3 (HYDIN) G E 2558 rs8044142 Benign
43273 Q4G0P3 (HYDIN) D N 2570 rs8044001 Benign
43274 Q4G0P3 (HYDIN) K R 2589 rs1774395 Benign
43275 Q4G0P3 (HYDIN) I S 2694 rs1774449 Benign
43276 Q4G0P3 (HYDIN) P L 2932 rs11075812 Benign
43277 Q4G0P3 (HYDIN) E K 2937 rs8047935 Benign
43278 Q4G0P3 (HYDIN) R K 2939 rs7188837 Benign
43279 Q4G0P3 (HYDIN) E G 2994 rs12102425 Benign
43280 Q4G0P3 (HYDIN) T R 3116 rs1774423 Benign
43281 Q4G0P3 (HYDIN) Y D 3269 rs7197263 Benign
43282 Q4G0P3 (HYDIN) A P 3291 rs1798440 Benign
43283 Q4G0P3 (HYDIN) L P 3316 rs1774331 Benign
43284 Q4G0P3 (HYDIN) A T 3739 rs1774504 Benign
43285 Q4G0P3 (HYDIN) V I 3742 rs1798413 Benign
43286 Q4G0P3 (HYDIN) R H 3811 rs13338821 Benign
43287 Q4G0P3 (HYDIN) V L 3840 rs1798325 Benign
43288 Q4G0P3 (HYDIN) M R 3869 rs7192347 Benign
43289 Q4G0P3 (HYDIN) V M 3899 rs1626593 Benign
43290 Q4G0P3 (HYDIN) T A 4005 rs1539302 Benign
43291 Q4G0P3 (HYDIN) A T 4026 rs11075798 Benign
43292 Q4G0P3 (HYDIN) K R 4088 rs1774416 Benign
43293 Q4G0P3 (HYDIN) E Q 4160 rs1798314 Benign
43294 Q4G0P3 (HYDIN) H Y 4270 rs1891343 Benign
43295 Q4G0P3 (HYDIN) S C 4363 rs1770434 Benign
43296 Q4G0P3 (HYDIN) K E 4412 rs1774480 Benign
43297 Q4G0P3 (HYDIN) M L 4552 rs1770442 Benign
43298 Q4G0P3 (HYDIN) N K 4606 rs783898 Benign
43299 Q4G0P3 (HYDIN) R Q 4869 rs2795652 Benign
43300 Q4G0S4 (CYP27C1) T M 359 rs35075135 Benign
43301 Q4G0S7 (CCDC152) R H 251 rs6879044 Benign
43302 Q4G0U5 (CFAP221) V I 637 rs2272058 Benign
43303 Q4G0U5 (CFAP221) M I 795 rs11686014 Benign
43304 Q4G0X9 (CCDC40) A P 8 rs2289530 Benign
43305 Q4G0Z9 (MCMDC2) M K 137 rs16933088 Benign
43306 Q4G0Z9 (MCMDC2) L V 322 rs17332410 Benign
43307 Q4G0Z9 (MCMDC2) S A 583 rs11778562 Benign
43308 Q4G112 (HSF5) N T 329 rs1017089 Benign
43309 Q4G112 (HSF5) S N 473 rs3803752 Benign
43310 Q4G163 (FBXO43) P L 139 rs2279102 Benign
43311 Q4G163 (FBXO43) P R 139 rs2279102 Benign
43312 Q4G176 (ACSF3) L P 2 rs7188200 Benign
43313 Q4G176 (ACSF3) A P 17 rs11547019 Benign
43314 Q4G176 (ACSF3) M R 198 rs387907121 Disease: Combined malonic and methylmaloni c aciduria (CMAMMA) [MIM:614265]
43315 Q4G176 (ACSF3) P L 243 rs140986055 Disease: Combined malonic and methylmaloni c aciduria (CMAMMA) [MIM:614265]
43316 Q4G176 (ACSF3) T I 358 rs387907120 Disease: Combined malonic and methylmaloni c aciduria (CMAMMA) [MIM:614265]
43317 Q4G176 (ACSF3) E K 359 rs150487794 Disease: Combined malonic and methylmaloni c aciduria (CMAMMA) [MIM:614265]
43318 Q4G176 (ACSF3) V M 372 rs3743979 Benign
43319 Q4G176 (ACSF3) K T 462 rs1362504214 Disease: Combined malonic and methylmaloni c aciduria (CMAMMA) [MIM:614265]
43320 Q4G176 (ACSF3) R Q 471 rs387907119 Disease: Combined malonic and methylmaloni c aciduria (CMAMMA) [MIM:614265]
43321 Q4G176 (ACSF3) R W 471 rs138680796 Disease: Combined malonic and methylmaloni c aciduria (CMAMMA) [MIM:614265]
43322 Q4G176 (ACSF3) G S 480 - Disease: Combined malonic and methylmaloni c aciduria (CMAMMA) [MIM:614265]
43323 Q4G176 (ACSF3) R W 558 rs141090143 Disease: Combined malonic and methylmaloni c aciduria (CMAMMA) [MIM:614265]
43324 Q4KMG0 (CDON) K R 66 rs7122277 Benign
43325 Q4KMG0 (CDON) E K 162 rs3740909 Benign
43326 Q4KMG0 (CDON) P A 351 rs35665264 Benign
43327 Q4KMG0 (CDON) T S 684 rs145983470 Benign
43328 Q4KMG0 (CDON) A V 686 rs12274923 Benign
43329 Q4KMG0 (CDON) P A 689 rs387906995 Disease: Holoprosence phaly 11 (HPE11) [MIM:614226]
43330 Q4KMG0 (CDON) V M 691 rs139323558 Disease: Holoprosence phaly 11 (HPE11) [MIM:614226]
43331 Q4KMG0 (CDON) V E 780 rs387906996 Disease: Holoprosence phaly 11 (HPE11) [MIM:614226]
43332 Q4KMG0 (CDON) T A 790 rs387906997 Disease: Holoprosence phaly 11 (HPE11) [MIM:614226]
43333 Q4KMG0 (CDON) S R 940 rs369673018 Disease: Holoprosence phaly 11 (HPE11) [MIM:614226]
43334 Q4KMQ2 (ANO6) A T 128 rs2162321 Benign
43335 Q4KMZ1 (IQCC) F C 209 rs3903683 Benign
43336 Q4KMZ1 (IQCC) C Y 217 rs12032332 Benign
43337 Q4KMZ1 (IQCC) P L 464 rs41306593 Benign
43338 Q4L180 (FILIP1L) R H 168 rs793440 Benign
43339 Q4L180 (FILIP1L) A P 884 rs28362487 Benign
43340 Q4L235 (AASDH) I V 61 rs34543011 Benign
43341 Q4L235 (AASDH) P R 93 rs34228795 Benign
43342 Q4L235 (AASDH) K R 368 rs3796543 Benign
43343 Q4L235 (AASDH) A V 747 rs3796544 Benign
43344 Q4L235 (AASDH) V I 774 rs3796545 Benign
43345 Q4L235 (AASDH) T A 865 rs12498340 Benign
43346 Q4L235 (AASDH) Y D 1030 rs8340 Benign
43347 Q4LDE5 (SVEP1) G A 332 rs3818764 Benign
43348 Q4LDE5 (SVEP1) G S 428 rs10980419 Benign
43349 Q4LDE5 (SVEP1) V I 507 rs872665 Benign
43350 Q4LDE5 (SVEP1) Q H 581 rs10817033 Benign
43351 Q4LDE5 (SVEP1) I V 637 rs13286541 Benign
43352 Q4LDE5 (SVEP1) K R 899 rs10817025 Benign
43353 Q4LDE5 (SVEP1) I V 1157 rs7038903 Benign
43354 Q4LDE5 (SVEP1) L M 1330 rs10817021 Benign
43355 Q4LDE5 (SVEP1) K Q 1416 rs1889323 Benign
43356 Q4LDE5 (SVEP1) M L 1444 rs7863519 Benign
43357 Q4LDE5 (SVEP1) L V 1648 rs7852962 Benign
43358 Q4LDE5 (SVEP1) E A 1810 rs2986671 Benign
43359 Q4LDE5 (SVEP1) R K 1953 rs17204832 Benign
43360 Q4LDE5 (SVEP1) T A 2607 rs3802433 Benign
43361 Q4LDE5 (SVEP1) A V 2750 rs7030192 Benign
43362 Q4LDE5 (SVEP1) I V 2922 rs16914996 Benign
43363 Q4LDE5 (SVEP1) F I 3161 rs3739451 Benign
43364 Q4LDE5 (SVEP1) P T 3230 rs16914992 Benign
43365 Q4LDE5 (SVEP1) T M 3559 rs17204533 Benign
43366 Q4LDG9 (DNAL1) N S 150 rs387907021 Disease: Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]
43367 Q4LDR2 (CTXN3) E V 17 rs248709 Benign
43368 Q4LDR2 (CTXN3) M I 23 rs2280170 Benign
43369 Q4LEZ3 (AARD) G R 96 rs16889283 Benign
43370 Q4U2R6 (MRPL51) M I 102 rs9526 Benign
43371 Q4U2R8 (SLC22A6) L P 7 rs1415632329 Benign
43372 Q4U2R8 (SLC22A6) R H 50 rs11568626 Benign
43373 Q4U2R8 (SLC22A6) P L 104 rs11568627 Benign
43374 Q4U2R8 (SLC22A6) R W 293 rs45607933 Benign
43375 Q4V328 (GRIPAP1) L P 179 rs61735977 Benign
43376 Q4V9L6 (TMEM119) I T 72 rs7975237 Benign
43377 Q4VC05 (BCL7A) N T 120 rs34821485 Benign
43378 Q4VC12 (MSS51) L P 417 rs11591720 Benign
43379 Q4VNC0 (ATP13A5) S Y 96 rs12637558 Benign
43380 Q4VNC0 (ATP13A5) E Q 133 rs6797429 Benign
43381 Q4VNC0 (ATP13A5) G S 739 rs2280268 Benign
43382 Q4VNC0 (ATP13A5) I V 1053 rs6787746 Benign
43383 Q4VNC0 (ATP13A5) V A 1131 rs2271791 Benign
43384 Q4VNC0 (ATP13A5) K Q 1204 rs7428010 Benign
43385 Q4VNC1 (ATP13A4) I M 181 rs6788448 Benign
43386 Q4VNC1 (ATP13A4) V A 353 - Benign
43387 Q4VNC1 (ATP13A4) E D 646 rs35424709 Benign
43388 Q4VX76 (SYTL3) P S 414 rs901363 Benign
43389 Q4VX76 (SYTL3) V I 540 rs2291388 Benign
43390 Q4VX76 (SYTL3) L Q 587 rs3123101 Benign
43391 Q4VXU2 (PABPC1L) S A 212 rs2075960 Benign
43392 Q4VXU2 (PABPC1L) S G 492 rs6513956 Benign
43393 Q4W5G0 (TIGD2) H R 475 rs2280099 Benign
43394 Q4W5P6 (TMEM155) A V 11 rs4370153 Benign
43395 Q4ZG55 (GREB1) N T 77 rs10929757 Benign
43396 Q4ZG55 (GREB1) V A 122 rs4669751 Benign
43397 Q4ZG55 (GREB1) V M 346 rs6744817 Benign
43398 Q4ZG55 (GREB1) F L 359 rs35188552 Benign
43399 Q4ZG55 (GREB1) A T 632 rs36030386 Benign
43400 Q4ZG55 (GREB1) R Q 973 rs3762579 Benign
43401 Q4ZG55 (GREB1) Y C 1463 rs11695925 Benign
43402 Q4ZG55 (GREB1) D N 1687 rs2304402 Benign
43403 Q4ZG55 (GREB1) L V 1814 rs34955282 Benign
43404 Q4ZHG4 (FNDC1) T A 438 rs509648 Benign
43405 Q4ZHG4 (FNDC1) E Q 463 rs420137 Benign
43406 Q4ZHG4 (FNDC1) Q E 1003 rs370434 Benign
43407 Q4ZHG4 (FNDC1) D E 1180 rs420054 Benign
43408 Q4ZHG4 (FNDC1) L P 1261 rs3003174 Benign
43409 Q4ZHG4 (FNDC1) Q R 1280 rs2501176 Benign
43410 Q4ZHG4 (FNDC1) T K 1504 rs386360 Benign
43411 Q4ZHG4 (FNDC1) T A 1574 rs7763726 Benign
43412 Q4ZJI4 (SLC9B1) Q H 33 rs2715591 Benign
43413 Q502W6 (VWA3B) L M 42 rs200359284 Benign
43414 Q502W6 (VWA3B) R W 181 rs2305355 Benign
43415 Q502W6 (VWA3B) K T 622 rs876657414 Disease: Spinocerebel lar ataxia, autosomal recessive, 22 (SCAR22) [MIM:616948]
43416 Q502W6 (VWA3B) L V 677 rs7601049 Benign
43417 Q502W6 (VWA3B) V M 885 rs11889349 Benign
43418 Q502W6 (VWA3B) I M 1103 rs6731704 Benign
43419 Q502W6 (VWA3B) D E 1223 rs17428626 Benign
43420 Q502W6 (VWA3B) R K 1245 rs7587534 Benign
43421 Q502W6 (VWA3B) T I 1277 rs2271038 Benign
43422 Q502W7 (CCDC38) V F 36 rs12368787 Benign
43423 Q502W7 (CCDC38) M V 227 rs10859974 Benign
43424 Q502X0 (MORN2) E K 48 rs3099950 Benign
43425 Q504Q3 (PAN2) S N 32 rs11558139 Benign
43426 Q504Q3 (PAN2) I L 179 rs1918496 Benign
43427 Q504Y0 (SLC39A12) S G 36 rs10764176 Benign
43428 Q504Y0 (SLC39A12) T M 244 rs7899328 Benign
43429 Q504Y0 (SLC39A12) V I 304 rs2478568 Benign
43430 Q504Y0 (SLC39A12) F L 435 rs11011935 Benign
43431 Q504Y3 (ZCWPW2) L Q 202 rs1563656 Benign
43432 Q52LG2 (KRTAP13-2) R C 26 rs16986753 Benign
43433 Q52LG2 (KRTAP13-2) S R 74 rs3804010 Benign
43434 Q52LW3 (ARHGAP29) P L 1192 rs11165091 Benign
43435 Q52LW3 (ARHGAP29) G D 1255 rs1999272 Benign
43436 Q52M58 (C14orf177) R W 3 rs17097718 Benign
43437 Q52M58 (C14orf177) V A 33 rs4905757 Benign
43438 Q52M75 (LINC01554) R C 85 rs17366761 Benign
43439 Q52M93 (ZNF585B) V I 467 rs1657509 Benign
43440 Q52MB2 (CCDC184) E D 140 rs10783231 Benign
43441 Q52WX2 (SBK1) R H 12 rs35448675 Benign
43442 Q52WX2 (SBK1) N T 250 rs56072383 Benign
43443 Q52WX2 (SBK1) A S 261 - Benign
43444 Q537H7 (SPATA45) I T 8 rs10864004 Benign
43445 Q53EL6 (PDCD4) I V 36 rs7081726 Benign
43446 Q53EL6 (PDCD4) S Y 48 rs11548765 Benign
43447 Q53EL9 (SEZ6) V M 300 rs1428430471 Benign
43448 Q53EL9 (SEZ6) A V 330 rs754657367 Benign
43449 Q53EL9 (SEZ6) T A 546 rs1976165 Benign
43450 Q53EL9 (SEZ6) V A 592 rs1397876475 Benign
43451 Q53EL9 (SEZ6) Y N 736 - Benign
43452 Q53EL9 (SEZ6) L V 756 - Benign
43453 Q53EL9 (SEZ6) M T 806 rs12941884 Benign
43454 Q53EP0 (FNDC3B) T S 179 rs7652177 Benign
43455 Q53EP0 (FNDC3B) M V 1080 rs2276806 Benign
43456 Q53EQ6 (TIGD5) M I 568 rs10282929 Benign
43457 Q53ET0 (CRTC2) M V 147 rs11264680 Benign
43458 Q53ET0 (CRTC2) R C 379 rs150423770 Benign
43459 Q53EV4 (LRRC23) N H 65 rs2071072 Benign
43460 Q53EV4 (LRRC23) R L 124 rs2071073 Benign
43461 Q53EV4 (LRRC23) V E 317 rs1057077 Benign
43462 Q53EZ4 (CEP55) H Q 57 rs3740370 Benign
43463 Q53EZ4 (CEP55) T A 99 rs7080916 Benign
43464 Q53EZ4 (CEP55) C R 236 rs7072484 Benign
43465 Q53EZ4 (CEP55) H L 378 rs2293277 Benign
43466 Q53F39 (MPPE1) R Q 138 rs11872520 Benign
43467 Q53F39 (MPPE1) V M 197 rs35611363 Benign
43468 Q53F39 (MPPE1) A P 268 rs662515 Benign
43469 Q53F39 (MPPE1) M L 336 rs16976814 Benign
43470 Q53FA7 (TP53I3) E K 223 rs35176319 Benign
43471 Q53FE4 (C4orf17) G E 64 rs13143848 Benign
43472 Q53FE4 (C4orf17) S P 85 rs13119384 Benign
43473 Q53FE4 (C4orf17) E K 91 rs17029087 Benign
43474 Q53FT3 (HIKESHI) P A 47 rs11539213 Benign
43475 Q53FT3 (HIKESHI) V L 54 rs202003795 Disease: Leukodystrop hy, hypomyelinat ing, 13 (HLD13) [MIM:616881]
43476 Q53FZ2 (ACSM3) L P 100 rs5713 Benign
43477 Q53FZ2 (ACSM3) D H 270 rs13306603 Benign
43478 Q53FZ2 (ACSM3) P T 308 rs7196188 Benign
43479 Q53FZ2 (ACSM3) K N 367 rs5716 Benign
43480 Q53G44 (IFI44L) H R 73 rs273259 Benign
43481 Q53G44 (IFI44L) A T 104 rs34932081 Benign
43482 Q53G44 (IFI44L) R C 148 rs273258 Benign
43483 Q53G44 (IFI44L) V I 217 rs3820093 Benign
43484 Q53G44 (IFI44L) I T 235 rs987495 Benign
43485 Q53G44 (IFI44L) R C 296 rs1981071 Benign
43486 Q53G44 (IFI44L) M I 390 rs35466823 Benign
43487 Q53G59 (KLHL12) P L 72 rs12569087 Benign
43488 Q53GD3 (SLC44A4) R L 6 rs2075798 Benign
43489 Q53GD3 (SLC44A4) D V 123 rs12661281 Benign
43490 Q53GD3 (SLC44A4) G E 128 rs17856465 Benign
43491 Q53GD3 (SLC44A4) M V 156 rs1135402753 Disease: Deafness, autosomal dominant, 72 (DFNA72) [MIM:617606]
43492 Q53GD3 (SLC44A4) V I 187 rs2242665 Benign
43493 Q53GD3 (SLC44A4) M V 326 rs644827 Benign
43494 Q53GD3 (SLC44A4) P S 397 rs116706632 Benign
43495 Q53GD3 (SLC44A4) R C 493 rs6915800 Benign
43496 Q53GG5 (PDLIM3) V M 127 rs11944325 Benign
43497 Q53GI3 (ZNF394) T M 325 rs3735454 Benign
43498 Q53GL0 (PLEKHO1) P A 21 rs2306235 Benign
43499 Q53GL7 (PARP10) I V 249 rs11136344 Benign
43500 Q53GL7 (PARP10) L P 395 rs11136343 Benign
43501 Q53GL7 (PARP10) V A 630 rs11544989 Benign
43502 Q53GQ0 (HSD17B12) S L 280 rs11555762 Benign
43503 Q53GS7 (GLE1) G D 130 rs17852725 Benign
43504 Q53GS7 (GLE1) I V 243 rs2275260 Benign
43505 Q53GS7 (GLE1) R H 569 rs121434407 Disease: Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310]
43506 Q53GS7 (GLE1) R Q 590 rs17856852 Benign
43507 Q53GS7 (GLE1) V M 617 rs121434408 Disease: Congenital arthrogrypos is with anterior horn cell disease (CAAHD) [MIM:611890]
43508 Q53GS7 (GLE1) I T 684 rs121434409 Disease: Congenital arthrogrypos is with anterior horn cell disease (CAAHD) [MIM:611890]
43509 Q53H12 (AGK) V M 3 rs10262855 Benign
43510 Q53H54 (TRMT12) W R 28 rs3812475 Benign
43511 Q53H76 (PLA1A) S I 23 rs1128293 Benign
43512 Q53H76 (PLA1A) R H 110 rs61733987 Benign
43513 Q53H76 (PLA1A) S N 284 rs2692622 Benign
43514 Q53H96 (PYCR3) R Q 57 rs11549789 Benign
43515 Q53H96 (PYCR3) V M 105 rs2242089 Benign
43516 Q53H96 (PYCR3) K N 150 rs2242090 Benign
43517 Q53HC0 (CCDC92) S C 70 rs11057401 Benign
43518 Q53HC0 (CCDC92) A T 253 rs35935939 Benign
43519 Q53HC0 (CCDC92) R H 281 rs17886730 Benign
43520 Q53HC5 (KLHL26) V M 542 rs17852384 Benign
43521 Q53HL2 (CDCA8) K N 12 rs17851453 Benign
43522 Q53HV7 (SMUG1) G V 15 rs2233920 Benign
43523 Q53HV7 (SMUG1) R W 105 rs3136389 Benign
43524 Q53QW1 (TEX44) V L 11 rs16828251 Benign
43525 Q53QW1 (TEX44) Q R 79 rs16828254 Benign
43526 Q53QW1 (TEX44) E K 168 rs16828257 Benign
43527 Q53QW1 (TEX44) S P 261 rs10933378 Benign
43528 Q53R12 (TM4SF20) A V 27 rs7574414 Benign
43529 Q53R41 (FASTKD1) E Q 384 rs12618227 Benign
43530 Q53R41 (FASTKD1) C G 446 rs35106223 Benign
43531 Q53R41 (FASTKD1) M V 467 rs2253680 Benign
43532 Q53RD9 (FBLN7) V M 119 rs35586251 Benign
43533 Q53RE8 (ANKRD39) A T 113 rs17852947 Benign
43534 Q53RT3 (ASPRV1) T A 49 rs3796097 Benign
43535 Q53S33 (BOLA3) I N 67 rs550855238 Disease: Multiple mitochondria l dysfunctions syndrome 2 with hyperglycine mia (MMDS2) [MIM:614299]
43536 Q53S33 (BOLA3) H R 96 rs148674363 Disease: Multiple mitochondria l dysfunctions syndrome 2 with hyperglycine mia (MMDS2) [MIM:614299]
43537 Q53S58 (TMEM177) G A 29 rs11684353 Benign
43538 Q53S58 (TMEM177) I V 32 rs13011768 Benign
43539 Q53S58 (TMEM177) D E 267 rs1983406 Benign
43540 Q53S99 (C2orf83) S L 45 rs28739019 Benign
43541 Q53S99 (C2orf83) E Q 104 rs2138402 Benign
43542 Q53SZ7 (PRR30) R G 194 rs17855664 Benign
43543 Q53SZ7 (PRR30) R C 222 rs3739097 Benign
43544 Q53T59 (HS1BP3) V M 260 rs2305458 Benign
43545 Q53T59 (HS1BP3) G R 273 rs35589938 Benign
43546 Q53T59 (HS1BP3) P R 348 rs35579164 Benign
43547 Q53T59 (HS1BP3) A T 388 rs3732149 Benign
43548 Q53T94 (TAF1B) A S 6 rs2303914 Benign
43549 Q53T94 (TAF1B) V I 282 rs396190 Benign
43550 Q53T94 (TAF1B) R H 292 rs16867223 Benign
43551 Q53T94 (TAF1B) T A 351 rs1054565 Benign
43552 Q53T94 (TAF1B) E D 462 rs1820965 Benign
43553 Q53T94 (TAF1B) T M 487 rs16867245 Benign
43554 Q53TN4 (CYBRD1) M T 156 rs16859487 Benign
43555 Q53TN4 (CYBRD1) R H 226 rs62181680 Benign
43556 Q53TN4 (CYBRD1) S N 266 rs10455 Benign
43557 Q53TQ3 (INO80D) A V 358 rs2909111 Benign
43558 Q53TS8 (C2CD6) H Q 376 rs10804117 Benign
43559 Q562E7 (WDR81) P L 856 rs587776906 Disease: Cerebellar ataxia, mental retardation, and dysequilibri um syndrome 2 (CAMRQ2) [MIM:610185]
43560 Q562E7 (WDR81) M V 1535 rs3809870 Benign
43561 Q562F6 (SGO2) G D 9 rs1036533 Benign
43562 Q562F6 (SGO2) E A 343 rs13417812 Benign
43563 Q562F6 (SGO2) I V 496 rs17448235 Benign
43564 Q562F6 (SGO2) N S 660 rs17532665 Benign
43565 Q562F6 (SGO2) I T 1099 rs11896759 Benign
43566 Q562F6 (SGO2) H R 1143 rs16833776 Benign
43567 Q567U6 (CCDC93) R C 179 rs33975708 Benign
43568 Q567U6 (CCDC93) R C 213 rs34095554 Benign
43569 Q567U6 (CCDC93) P L 228 rs17512204 Benign
43570 Q567U6 (CCDC93) Y H 465 rs17047557 Benign
43571 Q567V2 (MPV17L2) M V 72 rs874628 Benign
43572 Q569H4 (PRR16) P T 110 rs17853861 Benign
43573 Q569K4 (ZNF385B) S G 242 rs2271761 Benign
43574 Q569K4 (ZNF385B) F Y 416 - Benign
43575 Q569K6 (CCDC157) D N 51 rs740223 Benign
43576 Q569K6 (CCDC157) P L 191 rs12167903 Benign
43577 Q569K6 (CCDC157) S A 587 rs2015035 Benign
43578 Q56NI9 (ESCO2) A V 80 rs4732748 Benign
43579 Q56NI9 (ESCO2) Q P 359 rs57479434 Benign
43580 Q56NI9 (ESCO2) W G 539 rs80359868 Disease: Roberts syndrome (RBS) [MIM:268300]
43581 Q56P03 (EAPP) Q E 168 rs17352411 Benign
43582 Q56P42 (PYDC2) Q R 81 rs293833 Benign
43583 Q56UN5 (MAP3K19) T I 438 rs16831235 Benign
43584 Q56UN5 (MAP3K19) E Q 676 rs1112542 Benign
43585 Q56UN5 (MAP3K19) E G 812 rs3905317 Benign
43586 Q56VL3 (OCIAD2) R Q 44 rs7676916 Benign
43587 Q587I9 (SFT2D3) R G 38 rs10206957 Benign
43588 Q587J8 (KHDC3L) E Q 97 rs564533 Benign
43589 Q587J8 (KHDC3L) A G 201 rs561930 Benign
43590 Q58DX5 (NAALADL2) G S 68 rs9823911 Benign
43591 Q58DX5 (NAALADL2) I M 128 rs9836841 Benign
43592 Q58DX5 (NAALADL2) M T 194 rs4371530 Benign
43593 Q58DX5 (NAALADL2) P S 385 rs6802937 Benign
43594 Q58DX5 (NAALADL2) P R 622 rs9866564 Benign
43595 Q58DX5 (NAALADL2) L S 677 rs9826737 Benign
43596 Q58EX7 (PLEKHG4) T I 412 rs11860295 Benign
43597 Q58EX7 (PLEKHG4) D G 525 rs8044843 Benign
43598 Q58EX7 (PLEKHG4) R H 830 rs3868142 Benign
43599 Q58EX7 (PLEKHG4) R H 1064 rs56077142 Benign
43600 Q58EX7 (PLEKHG4) S T 1090 rs17680862 Benign
43601 Q58F21 (BRDT) S F 2 rs55806733 Benign
43602 Q58F21 (BRDT) R Q 6 rs56273490 Benign
43603 Q58F21 (BRDT) Q K 62 rs10783071 Benign
43604 Q58F21 (BRDT) K N 238 rs1156281 Benign
43605 Q58F21 (BRDT) K T 336 rs1064567 Benign
43606 Q58F21 (BRDT) E K 357 rs34674879 Benign
43607 Q58F21 (BRDT) N K 410 rs3088232 Benign
43608 Q58F21 (BRDT) P A 542 rs55912588 Benign
43609 Q58F21 (BRDT) R Q 605 rs35327986 Benign
43610 Q58F21 (BRDT) P L 696 rs10747493 Benign
43611 Q58G82 (SYT14P1) T M 97 rs3819257 Benign
43612 Q58WW2 (DCAF6) V A 547 rs11558511 Benign
43613 Q59H18 (TNNI3K) D H 151 rs34874695 Benign
43614 Q59H18 (TNNI3K) P L 263 rs34521608 Benign
43615 Q59H18 (TNNI3K) F L 309 - Benign
43616 Q59H18 (TNNI3K) V L 510 rs34335537 Benign
43617 Q59H18 (TNNI3K) G D 526 rs606231469 Disease: Cardiac conduction disease with or without dilated cardiomyopat hy (CCDD) [MIM:616117]
43618 Q59H18 (TNNI3K) T M 637 rs2274260 Benign
43619 Q59H18 (TNNI3K) I T 686 rs3737564 Benign
43620 Q59H18 (TNNI3K) A G 785 rs45578635 Benign
43621 Q59H18 (TNNI3K) D Y 833 rs45614933 Benign
43622 Q5BIV9 (SPRN) T M 7 rs2492666 Benign
43623 Q5BJE1 (CCDC178) A T 42 rs12606658 Benign
43624 Q5BJE1 (CCDC178) D N 420 rs58448816 Benign
43625 Q5BJE1 (CCDC178) V E 465 rs9965081 Benign
43626 Q5BJE1 (CCDC178) L R 600 rs457896 Benign
43627 Q5BJE1 (CCDC178) D N 601 rs466113 Benign
43628 Q5BJF6 (ODF2) T S 710 rs16930426 Benign
43629 Q5BJH2 (TMEM128) L I 16 rs6854167 Benign
43630 Q5BJH7 (YIF1B) P S 56 rs11556992 Benign
43631 Q5BKX6 (SLC45A4) P L 277 rs753778 Benign
43632 Q5BKX6 (SLC45A4) N D 718 rs3739238 Benign
43633 Q5BVD1 (TTMP) L P 66 rs16859172 Benign
43634 Q5BVD1 (TTMP) I V 111 rs16859190 Benign
43635 Q5BVD1 (TTMP) G S 144 rs340167 Benign
43636 Q5C9Z4 (NOM1) R G 24 rs6969990 Benign
43637 Q5C9Z4 (NOM1) H P 122 rs6952214 Benign
43638 Q5C9Z4 (NOM1) M V 723 rs12919 Benign
43639 Q5C9Z4 (NOM1) R H 779 rs2302445 Benign
43640 Q5C9Z4 (NOM1) V L 804 rs2302443 Benign
43641 Q5C9Z4 (NOM1) V M 812 rs12919 Benign
43642 Q5CZA5 (ZNF805) G E 68 rs2014572 Benign
43643 Q5CZC0 (FSIP2) M V 306 rs9808218 Benign
43644 Q5CZC0 (FSIP2) L F 700 - Benign
43645 Q5CZC0 (FSIP2) P T 2764 rs201794247 Benign
43646 Q5D0E6 (DALRD3) Q R 299 rs3087866 Benign
43647 Q5D1E8 (ZC3H12A) V M 240 rs16824179 Benign
43648 Q5D1E8 (ZC3H12A) G D 547 rs17849897 Benign
43649 Q5D862 (FLG2) L F 41 rs3818831 Benign
43650 Q5D862 (FLG2) R Q 107 rs2282304 Benign
43651 Q5D862 (FLG2) G E 137 rs6587667 Benign
43652 Q5D862 (FLG2) R Q 276 rs2282303 Benign
43653 Q5D862 (FLG2) C S 298 rs2282302 Benign
43654 Q5D862 (FLG2) E K 723 rs16842865 Benign
43655 Q5D862 (FLG2) Y S 881 rs79239476 Benign
43656 Q5D862 (FLG2) S Y 958 rs12411129 Benign
43657 Q5D862 (FLG2) H R 1249 rs16833974 Benign
43658 Q5D862 (FLG2) E D 1992 rs1858484 Benign
43659 Q5D862 (FLG2) Q H 2239 rs12736606 Benign
43660 Q5DID0 (UMODL1) V I 173 rs73371577 Benign
43661 Q5DID0 (UMODL1) N D 274 rs17114359 Benign
43662 Q5DID0 (UMODL1) N H 274 rs17114359 Benign
43663 Q5DID0 (UMODL1) R Q 447 rs146310440 Benign
43664 Q5DID0 (UMODL1) M T 559 rs220126 Benign
43665 Q5DID0 (UMODL1) I T 639 rs220129 Benign
43666 Q5DID0 (UMODL1) T P 698 rs220130 Benign
43667 Q5DID0 (UMODL1) V I 850 rs220146 Benign
43668 Q5DID0 (UMODL1) S N 1027 rs150611312 Benign
43669 Q5DID0 (UMODL1) G S 1068 rs111996953 Benign
43670 Q5DID0 (UMODL1) E K 1115 rs80040922 Benign
43671 Q5DID0 (UMODL1) D N 1208 rs220159 Benign
43672 Q5DID0 (UMODL1) N H 1309 rs3819142 Benign
43673 Q5DX21 (IGSF11) P T 39 rs2903250 Benign
43674 Q5DX21 (IGSF11) E D 333 rs36052974 Benign
43675 Q5DX21 (IGSF11) S N 388 rs34908332 Benign
43676 Q5EBL8 (PDZD11) S Y 81 rs1245281228 Benign
43677 Q5EBM0 (CMPK2) K R 433 rs6712141 Benign
43678 Q5EG05 (CARD16) R S 33 rs35966314 Benign
43679 Q5EG05 (CARD16) Q K 37 rs1042744 Benign
43680 Q5EG05 (CARD16) A D 56 rs34534919 Benign
43681 Q5EG05 (CARD16) N I 167 rs542571 Benign
43682 Q5F1R6 (DNAJC21) P A 32 rs879253818 Disease: Bone marrow failure syndrome 3 (BMFS3) [MIM:617052]
43683 Q5F1R6 (DNAJC21) E K 433 rs34908091 Benign
43684 Q5FBB7 (SGO1) K E 23 rs199815268 Disease: Chronic atrial and intestinal dysrhythmia (CAID) [MIM:616201]
43685 Q5FBB7 (SGO1) V A 171 rs6806241 Benign
43686 Q5FBB7 (SGO1) Q P 322 rs9868701 Benign
43687 Q5FVE4 (ACSBG2) V A 143 rs4807840 Benign
43688 Q5FVE4 (ACSBG2) K R 152 rs33937754 Benign
43689 Q5FVE4 (ACSBG2) G D 584 rs17851959 Benign
43690 Q5FVE4 (ACSBG2) G D 586 rs17851960 Benign
43691 Q5FVE4 (ACSBG2) P R 601 rs35609668 Benign
43692 Q5FVE4 (ACSBG2) R K 624 rs17856650 Benign
43693 Q5FVE4 (ACSBG2) E Q 626 rs17856651 Benign
43694 Q5FVE4 (ACSBG2) R S 650 rs35605352 Benign
43695 Q5FWE3 (PRRT3) Q E 138 rs279601 Benign
43696 Q5FWE3 (PRRT3) S P 213 rs55847610 Benign
43697 Q5FWE3 (PRRT3) L F 233 rs55847233 Benign
43698 Q5FWE3 (PRRT3) R G 334 rs59465469 Benign
43699 Q5FWE3 (PRRT3) L I 860 rs2279794 Benign
43700 Q5FWF4 (ZRANB3) E K 541 rs935615 Benign
43701 Q5FWF4 (ZRANB3) R Q 546 rs7608121 Benign
43702 Q5FWF4 (ZRANB3) E V 637 rs59900519 Benign
43703 Q5FWF5 (ESCO1) N S 191 rs35087820 Benign
43704 Q5FWF5 (ESCO1) T M 221 rs13381941 Benign
43705 Q5FWF6 (ZNF789) T A 77 rs6962772 Benign
43706 Q5FWF7 (FBXO48) T I 16 rs12614904 Benign
43707 Q5FYB0 (ARSJ) S R 565 rs17046588 Benign
43708 Q5GAN3 (RNASE13) S A 139 rs2277847 Benign
43709 Q5GAN6 (RNASE10) S N 131 rs2067648 Benign
43710 Q5GFL6 (VWA2) A T 9 rs9664945 Benign
43711 Q5GFL6 (VWA2) E G 131 rs597371 Benign
43712 Q5GH77 (XKR3) T M 143 rs5748648 Benign
43713 Q5GH77 (XKR3) P L 232 rs9605146 Benign
43714 Q5GH77 (XKR3) F L 255 rs5748623 Benign
43715 Q5GH77 (XKR3) H N 442 rs5748622 Benign
43716 Q5GJ75 (TNFAIP8L3) A T 38 rs17647084 Benign
43717 Q5H8A3 (NMS) P S 6 rs13411940 Benign
43718 Q5H8A4 (PIGG) S Y 55 rs34120878 Benign
43719 Q5H8A4 (PIGG) R H 458 rs13115344 Benign
43720 Q5H8A4 (PIGG) C R 610 rs7666425 Benign
43721 Q5H8A4 (PIGG) R C 669 rs372392424 Disease: Mental retardation, autosomal recessive 53 (MRT53) [MIM:616917]
43722 Q5H8A4 (PIGG) V I 699 rs13114026 Benign
43723 Q5H8A4 (PIGG) V I 731 rs34916638 Benign
43724 Q5H8A4 (PIGG) I T 881 rs34623004 Benign
43725 Q5H8A4 (PIGG) F S 932 rs1127410 Benign
43726 Q5H8C1 (FREM1) V L 439 rs2779500 Benign
43727 Q5H8C1 (FREM1) R Q 498 rs184394424 Disease: Trigonocepha ly 2 (TRIGNO2) [MIM:614485]
43728 Q5H8C1 (FREM1) I V 499 rs1353223 Benign
43729 Q5H8C1 (FREM1) R W 649 rs121912609 Disease: Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980]
43730 Q5H8C1 (FREM1) S Y 803 rs7023244 Benign
43731 Q5H8C1 (FREM1) L V 863 rs7041710 Benign
43732 Q5H8C1 (FREM1) S R 1202 rs16932300 Benign
43733 Q5H8C1 (FREM1) D E 1273 rs7025814 Benign
43734 Q5H8C1 (FREM1) L R 1324 rs281875281 Disease: Manitoba oculotrichoa nal syndrome (MOTA) [MIM:248450]
43735 Q5H8C1 (FREM1) G S 1440 rs121912610 Disease: Bifid nose, with or without anorectal and renal anomalies (BNAR) [MIM:608980]
43736 Q5H8C1 (FREM1) E V 1500 rs281875280 Disease: Trigonocepha ly 2 (TRIGNO2) [MIM:614485]
43737 Q5H8C1 (FREM1) V M 1502 rs10961700 Benign
43738 Q5H8C1 (FREM1) N I 1576 rs2101770 Benign
43739 Q5H8C1 (FREM1) V I 2091 rs281875282 Disease: Manitoba oculotrichoa nal syndrome (MOTA) [MIM:248450]
43740 Q5H8C1 (FREM1) Q P 2143 rs10961689 Benign
43741 Q5H8C1 (FREM1) V G 2174 rs17856912 Benign
43742 Q5H9F3 (BCORL1) F L 111 rs4830173 Benign
43743 Q5H9F3 (BCORL1) G S 209 rs5932715 Benign
43744 Q5H9K5 (ZMAT1) R K 214 rs17282855 Benign
43745 Q5H9K5 (ZMAT1) Q R 536 rs5944882 Benign
43746 Q5H9L4 (TAF7L) L P 34 rs5951328 Benign
43747 Q5H9L4 (TAF7L) E K 61 rs147493489 Benign
43748 Q5H9L4 (TAF7L) S G 308 rs35899692 Benign
43749 Q5H9L4 (TAF7L) R H 458 rs41310729 Benign
43750 Q5H9M0 (PWWP3B) G D 95 rs12392298 Benign
43751 Q5H9R4 (ARMCX4) R G 84 rs5951332 Benign
43752 Q5H9R7 (PPP6R3) A V 842 rs34009811 Benign
43753 Q5H9S7 (DCAF17) H Q 185 rs3731984 Benign
43754 Q5H9T9 (FSCB) P S 119 rs36083807 Benign
43755 Q5H9T9 (FSCB) H Q 195 rs3809429 Benign
43756 Q5H9T9 (FSCB) L P 380 rs3825630 Benign
43757 Q5H9T9 (FSCB) P S 409 rs1959379 Benign
43758 Q5H9T9 (FSCB) D E 423 rs3825632 Benign
43759 Q5H9T9 (FSCB) A T 642 rs8009274 Benign
43760 Q5H9U9 (DDX60L) C Y 336 rs12507582 Benign
43761 Q5H9U9 (DDX60L) N K 355 rs10029536 Benign
43762 Q5H9U9 (DDX60L) V L 409 rs13151700 Benign
43763 Q5H9U9 (DDX60L) A T 583 rs2319850 Benign
43764 Q5H9U9 (DDX60L) S C 1080 rs17540213 Benign
43765 Q5HY64 (FAM47C) N T 924 rs1995914 Benign
43766 Q5HY92 (FIGN) S L 96 rs2231902 Benign
43767 Q5HY92 (FIGN) R C 448 rs2231904 Benign
43768 Q5HY92 (FIGN) K R 565 rs2231905 Benign
43769 Q5HY98 (ZNF766) C Y 95 rs12462608 Benign
43770 Q5HYA8 (TMEM67) N K 90 - Disease: -
43771 Q5HYA8 (TMEM67) E K 124 rs375824494 Disease: -
43772 Q5HYA8 (TMEM67) P R 130 rs863225226 Disease: COACH syndrome (COACHS) [MIM:216360]
43773 Q5HYA8 (TMEM67) G A 132 rs1490496033 Disease: COACH syndrome (COACHS) [MIM:216360]
43774 Q5HYA8 (TMEM67) G A 218 rs202036490 Benign
43775 Q5HYA8 (TMEM67) N T 242 - Disease: COACH syndrome (COACHS) [MIM:216360]
43776 Q5HYA8 (TMEM67) M T 252 rs202149403 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43777 Q5HYA8 (TMEM67) D N 261 rs35793208 Benign
43778 Q5HYA8 (TMEM67) W L 290 rs267607117 Disease: Nephronophth isis 11 (NPHP11) [MIM:613550]
43779 Q5HYA8 (TMEM67) D E 301 rs756906837 Disease: -
43780 Q5HYA8 (TMEM67) S C 320 rs111619594 Benign
43781 Q5HYA8 (TMEM67) L S 349 rs386834180 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43782 Q5HYA8 (TMEM67) P L 358 rs863225232 Disease: Joubert syndrome 6 (JBTS6) [MIM:610688]
43783 Q5HYA8 (TMEM67) T K 372 rs863225235 Disease: COACH syndrome (COACHS) [MIM:216360]
43784 Q5HYA8 (TMEM67) Q P 376 rs137853106 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43785 Q5HYA8 (TMEM67) D G 430 - Disease: RHYNS syndrome (RHYNS) [MIM:602152]
43786 Q5HYA8 (TMEM67) L V 437 rs35765535 Benign
43787 Q5HYA8 (TMEM67) R Q 440 rs386834182 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43788 Q5HYA8 (TMEM67) R L 441 rs386834183 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43789 Q5HYA8 (TMEM67) Y C 513 rs137853107 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43790 Q5HYA8 (TMEM67) G E 545 rs267607114 Disease: Joubert syndrome 6 (JBTS6) [MIM:610688]
43791 Q5HYA8 (TMEM67) G D 569 rs1017800436 Disease: -
43792 Q5HYA8 (TMEM67) F S 590 rs267607115 Disease: COACH syndrome (COACHS) [MIM:216360]
43793 Q5HYA8 (TMEM67) I V 604 rs3134031 Benign
43794 Q5HYA8 (TMEM67) C R 615 rs201893408 Disease: Nephronophth isis 11 (NPHP11) [MIM:613550]
43795 Q5HYA8 (TMEM67) A V 616 rs757204749 Disease: -
43796 Q5HYA8 (TMEM67) W R 668 rs386834189 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43797 Q5HYA8 (TMEM67) D A 711 rs781383498 Disease: Joubert syndrome 6 (JBTS6) [MIM:610688]
43798 Q5HYA8 (TMEM67) S G 728 - Disease: COACH syndrome (COACHS) [MIM:216360]
43799 Q5HYA8 (TMEM67) L R 739 - Disease: -
43800 Q5HYA8 (TMEM67) H R 782 rs777137476 Disease: COACH syndrome (COACHS) [MIM:216360]
43801 Q5HYA8 (TMEM67) G E 786 rs386834193 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43802 Q5HYA8 (TMEM67) R S 820 - Disease: COACH syndrome (COACHS) [MIM:216360]
43803 Q5HYA8 (TMEM67) G R 821 rs267607116 Disease: Nephronophth isis 11 (NPHP11) [MIM:613550]
43804 Q5HYA8 (TMEM67) G S 821 rs267607116 Disease: Nephronophth isis 11 (NPHP11) [MIM:613550]
43805 Q5HYA8 (TMEM67) I T 833 rs267607119 Disease: Joubert syndrome 6 (JBTS6) [MIM:610688]
43806 Q5HYA8 (TMEM67) Y C 843 rs386834194 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43807 Q5HYA8 (TMEM67) L P 966 rs386834199 Disease: Meckel syndrome 3 (MKS3) [MIM:607361]
43808 Q5HYI7 (MTX3) S R 238 rs9293796 Benign
43809 Q5HYI8 (RABL3) R Q 184 - Disease: Pancreatic cancer 5 (PNCA5) [MIM:618680]
43810 Q5HYJ1 (TECRL) Y H 169 - Benign
43811 Q5HYK3 (COQ5) A T 152 rs3742049 Benign
43812 Q5HYK9 (ZNF667) P L 134 rs35914474 Benign
43813 Q5HYK9 (ZNF667) K R 260 rs3760849 Benign
43814 Q5HYK9 (ZNF667) T A 540 rs12610019 Benign
43815 Q5HYW2 (NHSL2) T I 901 rs7061150 Benign
43816 Q5HYW3 (RTL5) S R 420 rs6624595 Benign
43817 Q5I0G3 (MDH1B) E D 510 rs2287631 Benign
43818 Q5I0G3 (MDH1B) T A 515 rs2287632 Benign
43819 Q5I7T1 (ALG10B) A G 84 rs6582584 Benign
43820 Q5I7T1 (ALG10B) S N 383 rs57963306 Benign
43821 Q5I7T1 (ALG10B) I V 446 rs61730283 Benign
43822 Q5IJ48 (CRB2) P L 46 rs73571404 Benign
43823 Q5IJ48 (CRB2) T N 90 rs2808415 Benign
43824 Q5IJ48 (CRB2) V L 97 - Benign
43825 Q5IJ48 (CRB2) P L 116 rs542211566 Benign
43826 Q5IJ48 (CRB2) M T 145 rs1105223 Benign
43827 Q5IJ48 (CRB2) G A 159 rs1105222 Benign
43828 Q5IJ48 (CRB2) E D 187 - Benign
43829 Q5IJ48 (CRB2) A T 351 rs199679542 Benign
43830 Q5IJ48 (CRB2) R Q 534 rs370059953 Benign
43831 Q5IJ48 (CRB2) R W 610 rs145286619 Benign
43832 Q5IJ48 (CRB2) C S 620 rs879255250 Disease: Focal segmental glomeruloscl erosis 9 (FSGS9) [MIM:616220]
43833 Q5IJ48 (CRB2) R C 628 rs202128397 Disease: Focal segmental glomeruloscl erosis 9 (FSGS9) [MIM:616220]
43834 Q5IJ48 (CRB2) C S 629 rs879255252 Disease: Focal segmental glomeruloscl erosis 9 (FSGS9) [MIM:616220]
43835 Q5IJ48 (CRB2) R W 633 rs730880377 Disease: Ventriculome galy with cystic kidney disease (VMCKD) [MIM:219730]
43836 Q5IJ48 (CRB2) E A 643 rs730880300 Disease: Ventriculome galy with cystic kidney disease (VMCKD) [MIM:219730]
43837 Q5IJ48 (CRB2) V A 709 rs2488602 Benign
43838 Q5IJ48 (CRB2) H Q 746 rs757353722 Benign
43839 Q5IJ48 (CRB2) N K 800 rs765676223 Disease: Ventriculome galy with cystic kidney disease (VMCKD) [MIM:219730]
43840 Q5IJ48 (CRB2) T M 1110 rs73571431 Benign
43841 Q5IJ48 (CRB2) R Q 1249 rs147412276 Disease: Focal segmental glomeruloscl erosis 9 (FSGS9) [MIM:616220]
43842 Q5J8M3 (EMC4) P T 98 rs11544437 Benign
43843 Q5J8X5 (MS4A13) G D 3 rs55756397 Benign
43844 Q5J8X5 (MS4A13) I V 7 rs10736706 Benign
43845 Q5J8X5 (MS4A13) P L 58 rs6591595 Benign
43846 Q5JNZ3 (ZNF311) R C 486 rs9295783 Benign
43847 Q5JNZ3 (ZNF311) K Q 511 rs6456880 Benign
43848 Q5JPB2 (ZNF831) G R 845 rs181984 Benign
43849 Q5JPB2 (ZNF831) S P 1513 rs259956 Benign
43850 Q5JPB2 (ZNF831) R H 1615 rs201549554 Benign
43851 Q5JPE7 (NOMO2) V M 493 rs1062413 Benign
43852 Q5JPE7 (NOMO2) V M 580 rs15984 Benign
43853 Q5JPH6 (EARS2) R H 55 rs770862902 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43854 Q5JPH6 (EARS2) K E 65 rs397514595 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43855 Q5JPH6 (EARS2) E K 96 rs397514593 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43856 Q5JPH6 (EARS2) R C 107 rs1355685453 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43857 Q5JPH6 (EARS2) R H 107 rs1021330566 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43858 Q5JPH6 (EARS2) R W 108 rs376103091 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43859 Q5JPH6 (EARS2) G S 110 rs201842633 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43860 Q5JPH6 (EARS2) C Y 167 rs397514594 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43861 Q5JPH6 (EARS2) R G 168 rs397514591 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43862 Q5JPH6 (EARS2) G S 204 rs397514592 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43863 Q5JPH6 (EARS2) G S 224 rs141129877 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43864 Q5JPH6 (EARS2) G C 317 rs746838793 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43865 Q5JPH6 (EARS2) S G 457 rs6497671 Benign
43866 Q5JPH6 (EARS2) R Q 489 rs757965573 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43867 Q5JPH6 (EARS2) R Q 516 rs201727231 Disease: Combined oxidative phosphorylat ion deficiency 12 (COXPD12) [MIM:614924]
43868 Q5JPI9 (EEF1AKMT2) R Q 67 rs4347339 Benign
43869 Q5JQC9 (AKAP4) H R 233 rs17174078 Benign
43870 Q5JQC9 (AKAP4) A G 673 rs12012704 Benign
43871 Q5JQD4 (PYY3) T I 28 rs5953365 Benign
43872 Q5JQF7 (LINC01556) G E 41 rs2071790 Benign
43873 Q5JQS5 (OR2B11) I S 130 rs11583410 Benign
43874 Q5JQS5 (OR2B11) V M 198 rs6695302 Benign
43875 Q5JQS5 (OR2B11) G D 223 rs4925663 Benign
43876 Q5JQS5 (OR2B11) T I 293 rs12065526 Benign
43877 Q5JQS5 (OR2B11) D G 300 rs12070953 Benign
43878 Q5JR12 (PPM1J) L F 213 rs34611728 Benign
43879 Q5JR12 (PPM1J) V I 236 rs10857971 Benign
43880 Q5JR59 (MTUS2) P H 955 rs12874207 Benign
43881 Q5JR59 (MTUS2) L Q 1071 rs17073511 Benign
43882 Q5JRA6 (MIA3) K E 482 rs2936053 Benign
43883 Q5JRA6 (MIA3) K R 605 rs2936052 Benign
43884 Q5JRA6 (MIA3) E G 881 rs2936051 Benign
43885 Q5JRA6 (MIA3) G C 1659 rs17857325 Benign
43886 Q5JRA6 (MIA3) K E 1723 rs17854428 Benign
43887 Q5JRC9 (FAM47A) F L 50 rs17856750 Benign
43888 Q5JRC9 (FAM47A) V E 232 rs17856751 Benign
43889 Q5JRC9 (FAM47A) A S 377 rs1811716 Benign
43890 Q5JRC9 (FAM47A) G R 531 rs5971820 Benign
43891 Q5JRM2 (CXorf66) P L 233 rs5955139 Benign
43892 Q5JRS4 (OR10J3) Q R 235 rs11265165 Benign
43893 Q5JRV8 (TMEM255A) P Q 345 rs17854410 Benign
43894 Q5JRX3 (PITRM1) Q R 8 rs11818724 Benign
43895 Q5JRX3 (PITRM1) L V 145 rs9423502 Benign
43896 Q5JRX3 (PITRM1) F S 169 rs3814596 Benign
43897 Q5JRX3 (PITRM1) I V 328 rs4242746 Benign
43898 Q5JRX3 (PITRM1) A V 397 rs3182535 Benign
43899 Q5JRX3 (PITRM1) Q H 516 rs3765101 Benign
43900 Q5JRX3 (PITRM1) A D 554 rs12248937 Benign
43901 Q5JRX3 (PITRM1) V I 621 rs2388556 Benign
43902 Q5JRX3 (PITRM1) R Q 805 rs34837384 Benign
43903 Q5JRX3 (PITRM1) I M 952 rs2279219 Benign
43904 Q5JRX3 (PITRM1) V I 963 rs17849904 Benign
43905 Q5JRX3 (PITRM1) P L 969 rs2279218 Benign
43906 Q5JRX3 (PITRM1) Q R 1037 rs6901 Benign
43907 Q5JS13 (RALGPS1) S N 290 rs55918931 Benign
43908 Q5JS37 (NHLRC3) L R 221 rs9603498 Benign
43909 Q5JSH3 (WDR44) A T 289 rs17271416 Benign
43910 Q5JSH3 (WDR44) T A 296 rs17855531 Benign
43911 Q5JSJ4 (INTS6L) I V 769 - Benign
43912 Q5JSL3 (DOCK11) I F 813 rs16995229 Benign
43913 Q5JSP0 (FGD3) V I 275 rs3802384 Benign
43914 Q5JSS6 (MEIG1) K T 9 rs4750568 Benign
43915 Q5JST6 (EFHC2) N S 31 rs17146914 Benign
43916 Q5JST6 (EFHC2) C Y 57 rs61636783 Benign
43917 Q5JST6 (EFHC2) E K 208 rs7062352 Benign
43918 Q5JST6 (EFHC2) S Y 430 rs2208592 Benign
43919 Q5JST6 (EFHC2) E Q 507 rs3747354 Benign
43920 Q5JSZ5 (PRRC2B) M V 417 rs34553878 Benign
43921 Q5JSZ5 (PRRC2B) S T 1630 rs10736851 Benign
43922 Q5JSZ5 (PRRC2B) L P 1675 rs10751478 Benign
43923 Q5JT82 (KLF17) I N 35 rs11210969 Benign
43924 Q5JT82 (KLF17) S T 57 rs2429051 Benign
43925 Q5JT82 (KLF17) Q H 80 rs6656945 Benign
43926 Q5JT82 (KLF17) N S 156 rs2485652 Benign
43927 Q5JTC6 (AMER1) F L 159 rs34677493 Benign
43928 Q5JTC6 (AMER1) R C 178 rs376626895 Benign
43929 Q5JTC6 (AMER1) A S 278 rs35718712 Benign
43930 Q5JTC6 (AMER1) K N 292 rs138948924 Benign
43931 Q5JTH9 (RRP12) G S 1145 rs2275580 Benign
43932 Q5JTH9 (RRP12) R Q 1281 rs1048445 Benign
43933 Q5JTJ3 (COA6) W C 59 - Disease: Cardioenceph alomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM:616501]
43934 Q5JTJ3 (COA6) W R 66 rs875989827 Disease: Cardioenceph alomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 (CEMCOX4) [MIM:616501]
43935 Q5JTN6 (WDR38) H R 172 rs2274970 Benign
43936 Q5JTN6 (WDR38) A G 193 rs10760381 Benign
43937 Q5JTV8 (TOR1AIP1) M T 146 rs1281378 Benign
43938 Q5JTV8 (TOR1AIP1) P R 276 rs609521 Benign
43939 Q5JTV8 (TOR1AIP1) Q H 293 rs17279712 Benign
43940 Q5JTZ9 (AARS2) F C 50 rs587777590 Disease: Leukoencepha lopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
43941 Q5JTZ9 (AARS2) L R 155 rs387907061 Disease: Combined oxidative phosphorylat ion deficiency 8 (COXPD8) [MIM:614096]
43942 Q5JTZ9 (AARS2) I V 339 rs324136 Benign
43943 Q5JTZ9 (AARS2) E K 405 rs587777592 Disease: Leukoencepha lopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
43944 Q5JTZ9 (AARS2) A D 484 rs495294 Benign
43945 Q5JTZ9 (AARS2) R W 592 rs138119149 Disease: Combined oxidative phosphorylat ion deficiency 8 (COXPD8) [MIM:614096]
43946 Q5JTZ9 (AARS2) V M 730 rs35623954 Benign
43947 Q5JTZ9 (AARS2) M V 850 rs35783144 Benign
43948 Q5JTZ9 (AARS2) G R 965 rs543267101 Disease: Leukoencepha lopathy, progressive, with ovarian failure (LKENP) [MIM:615889]
43949 Q5JU00 (TCTE1) P L 35 rs324146 Benign
43950 Q5JU00 (TCTE1) H R 53 rs17853373 Benign
43951 Q5JU00 (TCTE1) F S 261 rs2297336 Benign
43952 Q5JU67 (CFAP157) Y S 483 rs497632 Benign
43953 Q5JU69 (TOR2A) K E 203 rs538066 Benign
43954 Q5JU85 (IQSEC2) R C 359 rs267607188 Disease: Mental retardation, X-linked 1 (MRX1) [MIM:309530]
43955 Q5JU85 (IQSEC2) R Q 758 rs267607189 Disease: Mental retardation, X-linked 1 (MRX1) [MIM:309530]
43956 Q5JU85 (IQSEC2) A V 789 rs875989799 Disease: Mental retardation, X-linked 1 (MRX1) [MIM:309530]
43957 Q5JU85 (IQSEC2) Q P 801 rs267607187 Disease: Mental retardation, X-linked 1 (MRX1) [MIM:309530]
43958 Q5JU85 (IQSEC2) R W 863 rs267607186 Disease: Mental retardation, X-linked 1 (MRX1) [MIM:309530]
43959 Q5JUK2 (SOHLH1) R Q 37 rs471525 Benign
43960 Q5JUK2 (SOHLH1) P S 269 rs3119932 Benign
43961 Q5JUK3 (KCNT1) G S 269 rs587777264 Disease: Epileptic encephalopat hy, early infantile, 14 (EIEE14) [MIM:614959]
43962 Q5JUK3 (KCNT1) R Q 379 rs397515407 Disease: Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]
43963 Q5JUK3 (KCNT1) R Q 409 rs397515402 Disease: Epileptic encephalopat hy, early infantile, 14 (EIEE14) [MIM:614959]
43964 Q5JUK3 (KCNT1) R H 455 rs397515404 Disease: Epileptic encephalopat hy, early infantile, 14 (EIEE14) [MIM:614959]
43965 Q5JUK3 (KCNT1) M V 497 rs886041691 Disease: Epileptic encephalopat hy, early infantile, 14 (EIEE14) [MIM:614959]
43966 Q5JUK3 (KCNT1) I M 741 rs370521183 Disease: Epileptic encephalopat hy, early infantile, 14 (EIEE14) [MIM:614959]
43967 Q5JUK3 (KCNT1) Y H 777 rs397515406 Disease: Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]
43968 Q5JUK3 (KCNT1) M I 877 rs797044544 Disease: Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]
43969 Q5JUK3 (KCNT1) R C 909 rs397515405 Disease: Epilepsy, nocturnal frontal lobe, 5 (ENFL5) [MIM:615005]
43970 Q5JUK3 (KCNT1) A T 915 rs397515403 Disease: Epileptic encephalopat hy, early infantile, 14 (EIEE14) [MIM:614959]
43971 Q5JUK3 (KCNT1) K E 928 rs1057519544 Disease: Epileptic encephalopat hy, early infantile, 14 (EIEE14) [MIM:614959]
43972 Q5JUK3 (KCNT1) A T 947 rs1424788778 Disease: Epileptic encephalopat hy, early infantile, 14 (EIEE14) [MIM:614959]
43973 Q5JUK9 (PAGE3) N D 35 rs4826381 Benign
43974 Q5JUK9 (PAGE3) G S 53 rs2296807 Benign
43975 Q5JVG2 (ZNF484) G D 502 rs3739602 Benign
43976 Q5JVG8 (ZNF506) T P 189 rs16996376 Benign
43977 Q5JVL4 (EFHC1) P T 77 rs149055334 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43978 Q5JVL4 (EFHC1) H R 89 rs543160745 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43979 Q5JVL4 (EFHC1) R C 118 rs764096785 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43980 Q5JVL4 (EFHC1) R W 159 rs3804506 Benign
43981 Q5JVL4 (EFHC1) I V 174 rs137852779 Benign
43982 Q5JVL4 (EFHC1) R H 182 rs3804505 Benign
43983 Q5JVL4 (EFHC1) D N 210 rs137852777 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43984 Q5JVL4 (EFHC1) R C 221 rs139197513 Benign
43985 Q5JVL4 (EFHC1) R H 221 rs79761183 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43986 Q5JVL4 (EFHC1) D Y 253 rs137852778 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43987 Q5JVL4 (EFHC1) C Y 259 rs137852780 Benign
43988 Q5JVL4 (EFHC1) R I 285 rs17851771 Benign
43989 Q5JVL4 (EFHC1) R H 294 rs1570624 Benign
43990 Q5JVL4 (EFHC1) E K 322 - Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43991 Q5JVL4 (EFHC1) R W 353 rs527295360 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43992 Q5JVL4 (EFHC1) Y C 355 rs767833659 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43993 Q5JVL4 (EFHC1) E K 357 rs505760 Benign
43994 Q5JVL4 (EFHC1) R W 372 rs371151471 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43995 Q5JVL4 (EFHC1) K E 378 - Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43996 Q5JVL4 (EFHC1) R C 436 rs377286138 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43997 Q5JVL4 (EFHC1) M T 448 rs1266787 Benign
43998 Q5JVL4 (EFHC1) Y H 485 rs779322943 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
43999 Q5JVL4 (EFHC1) N S 519 rs527539103 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
44000 Q5JVL4 (EFHC1) V L 556 rs772265107 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
44001 Q5JVL4 (EFHC1) I L 619 rs17851770 Benign
44002 Q5JVL4 (EFHC1) I S 619 rs142458862 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
44003 Q5JVL4 (EFHC1) Y C 631 rs574948354 Disease: Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]
44004 Q5JVX7 (C1orf141) E G 85 rs2273682 Benign
44005 Q5JVX7 (C1orf141) V I 189 rs11208997 Benign
44006 Q5JWF2 (GNAS) A D 436 rs61749698 Disease: GNAS hyperfunctio n (GNASHYP) [MIM:139320]
44007 Q5JWF2 (GNAS) P R 459 rs148033592 Disease: GNAS hyperfunctio n (GNASHYP) [MIM:139320]
44008 Q5JWF2 (GNAS) R L 1023 rs8986 Benign
44009 Q5JWR5 (DOP1A) R Q 596 rs4706980 Benign
44010 Q5JWR5 (DOP1A) Q L 1781 rs9444039 Benign
44011 Q5JX69 (FAM209B) Q K 74 rs3209183 Benign
44012 Q5JX69 (FAM209B) E K 84 rs61440263 Benign
44013 Q5JX69 (FAM209B) E A 129 rs2296129 Benign
44014 Q5JX71 (FAM209A) V A 66 rs707554 Benign
44015 Q5JX71 (FAM209A) L F 95 rs1054343 Benign
44016 Q5JX71 (FAM209A) M K 117 rs1054349 Benign
44017 Q5JX71 (FAM209A) R G 135 rs1054358 Benign
44018 Q5JX71 (FAM209A) R K 146 rs1054361 Benign
44019 Q5JXA9 (SIRPB2) G E 153 rs6033876 Benign
44020 Q5JXA9 (SIRPB2) E A 215 rs6042507 Benign
44021 Q5JXA9 (SIRPB2) L F 304 rs8119290 Benign
44022 Q5JXC2 (MIIP) K N 99 rs11553925 Benign
44023 Q5JXC2 (MIIP) P S 142 rs11588712 Benign
44024 Q5JXC2 (MIIP) K E 167 rs2295283 Benign
44025 Q5JXC2 (MIIP) R W 247 rs2295289 Benign
44026 Q5JXC2 (MIIP) S L 288 rs35317667 Benign
44027 Q5JXC2 (MIIP) P S 381 rs34874602 Benign
44028 Q5JXM2 (METTL24) L F 281 rs2334321 Benign
44029 Q5JY77 (GPRASP1) A G 315 rs17339512 Benign
44030 Q5JY77 (GPRASP1) I V 779 rs17292748 Benign
44031 Q5JY77 (GPRASP1) P S 1093 rs2235804 Benign
44032 Q5JYT7 (KIAA1755) K N 339 rs1205434 Benign
44033 Q5JYT7 (KIAA1755) P L 415 rs6024235 Benign
44034 Q5JYT7 (KIAA1755) A V 633 rs16987188 Benign
44035 Q5JYT7 (KIAA1755) E K 940 rs760998 Benign
44036 Q5JYT7 (KIAA1755) R W 1045 rs3746471 Benign
44037 Q5JZY3 (EPHA10) V L 103 rs34557762 Benign
44038 Q5JZY3 (EPHA10) T K 220 rs56276182 Benign
44039 Q5JZY3 (EPHA10) F I 281 rs4653328 Benign
44040 Q5JZY3 (EPHA10) L P 629 rs17511304 Benign
44041 Q5JZY3 (EPHA10) L P 630 - Benign
44042 Q5JZY3 (EPHA10) V I 645 rs12405650 Benign
44043 Q5JZY3 (EPHA10) G E 749 rs6671088 Benign
44044 Q5JZY3 (EPHA10) R Q 807 rs6670599 Benign
44045 Q5JZY3 (EPHA10) A T 956 - Benign
44046 Q5K131 (CLLU1) S F 9 rs12580153 Benign
44047 Q5K4L6 (SLC27A3) G A 63 rs34527123 Benign
44048 Q5K4L6 (SLC27A3) R H 392 rs35102232 Benign
44049 Q5K651 (SAMD9) I T 143 rs6969691 Benign
44050 Q5K651 (SAMD9) N S 449 rs10239435 Benign
44051 Q5K651 (SAMD9) R Q 459 - Disease: MIRAGE syndrome (MIRAGE) [MIM:617053]
44052 Q5K651 (SAMD9) V L 549 rs10279499 Benign
44053 Q5K651 (SAMD9) D N 769 - Disease: MIRAGE syndrome (MIRAGE) [MIM:617053]
44054 Q5K651 (SAMD9) N Y 834 - Disease: MIRAGE syndrome (MIRAGE) [MIM:617053]
44055 Q5K651 (SAMD9) E K 974 rs1554336981 Disease: MIRAGE syndrome (MIRAGE) [MIM:617053]
44056 Q5K651 (SAMD9) A V 1195 - Disease: MIRAGE syndrome (MIRAGE) [MIM:617053]
44057 Q5K651 (SAMD9) P L 1280 - Disease: MIRAGE syndrome (MIRAGE) [MIM:617053]
44058 Q5K651 (SAMD9) Q K 1286 - Disease: MIRAGE syndrome (MIRAGE) [MIM:617053]
44059 Q5K651 (SAMD9) R W 1293 - Disease: MIRAGE syndrome (MIRAGE) [MIM:617053]
44060 Q5K651 (SAMD9) K E 1495 rs121918554 Disease: Tumoral calcinosis, normophospha temic, familial (NFTC) [MIM:610455]
44061 Q5KSL6 (DGKK) D N 1118 rs4074320 Benign
44062 Q5KU26 (COLEC12) K E 91 rs17855029 Benign
44063 Q5KU26 (COLEC12) I V 487 rs8098850 Benign
44064 Q5KU26 (COLEC12) S P 522 rs2305025 Benign
44065 Q5KU26 (COLEC12) G S 606 rs2305027 Benign
44066 Q5M775 (SPECC1) S R 274 rs9908032 Benign
44067 Q5M775 (SPECC1) M L 293 rs2703806 Benign
44068 Q5M775 (SPECC1) D N 769 rs35835131 Benign
44069 Q5M9N0 (CCDC158) E D 232 rs17001889 Benign
44070 Q5M9N0 (CCDC158) I V 297 rs17001885 Benign
44071 Q5M9Q1 (NKAPL) Y C 96 rs12000 Benign
44072 Q5M9Q1 (NKAPL) T N 152 rs1635 Benign
44073 Q5M9Q1 (NKAPL) H Y 162 rs9461446 Benign
44074 Q5M9Q1 (NKAPL) E G 398 rs1679709 Benign
44075 Q5MAI5 (CDKL4) S P 38 rs35947084 Benign
44076 Q5MAI5 (CDKL4) R H 53 rs35454041 Benign
44077 Q5MAI5 (CDKL4) H Y 118 rs6731369 Benign
44078 Q5MAI5 (CDKL4) F C 228 rs56353587 Benign
44079 Q5MAI5 (CDKL4) S Y 288 rs34819676 Benign
44080 Q5MAI5 (CDKL4) R C 307 rs56330730 Benign
44081 Q5MIZ7 (PPP4R3B) S T 293 rs34999684 Benign
44082 Q5MIZ7 (PPP4R3B) I V 503 rs2903704 Benign
44083 Q5MJ08 (SPANXN4) K N 48 rs10482390 Benign
44084 Q5MJ09 (SPANXN3) K N 43 rs6654212 Benign
44085 Q5MJ09 (SPANXN3) V I 89 rs5953851 Benign
44086 Q5MJ10 (SPANXN2) T I 8 rs79543398 Benign
44087 Q5MNV8 (FBXO47) Q R 209 rs9906595 Benign
44088 Q5MNZ9 (WIPI1) T I 31 rs883541 Benign
44089 Q5MNZ9 (WIPI1) R H 308 rs36084378 Benign
44090 Q5MY95 (ENTPD8) L P 62 rs6606582 Benign
44091 Q5MY95 (ENTPD8) E K 428 rs61491031 Benign
44092 Q5NDL2 (EOGT) W S 207 rs587776993 Disease: Adams-Oliver syndrome 4 (AOS4) [MIM:615297]
44093 Q5NDL2 (EOGT) R Q 377 rs587776995 Disease: Adams-Oliver syndrome 4 (AOS4) [MIM:615297]
44094 Q5NE16 (CTSL3P) S G 123 rs11141967 Benign
44095 Q5NUL3 (FFAR4) R C 67 rs61866610 Benign
44096 Q5NUL3 (FFAR4) R H 254 rs116454156 Benign
44097 Q5PT55 (SLC10A5) I T 287 rs7012758 Benign
44098 Q5QGS0 (NEXMIF) I T 1112 rs12851763 Benign
44099 Q5QGT7 (RTP2) Q R 82 rs11707167 Benign
44100 Q5QGZ9 (CLEC12A) K Q 244 rs479499 Benign
44101 Q5QJ38 (TCHHL1) A G 193 rs16833835 Benign
44102 Q5QJE6 (DNTTIP2) E D 309 rs3747965 Benign
44103 Q5QJE6 (DNTTIP2) T A 341 rs3179879 Benign
44104 Q5QJE6 (DNTTIP2) A V 430 rs35650636 Benign
44105 Q5QJE6 (DNTTIP2) G E 477 rs41292661 Benign
44106 Q5QJE6 (DNTTIP2) Y F 676 rs12748154 Benign
44107 Q5QJU3 (ACER2) A V 134 rs10964136 Benign
44108 Q5R372 (RABGAP1L) S G 277 rs7339904 Benign
44109 Q5R387 (PLA2G2C) Q R 139 rs6426616 Benign
44110 Q5R3I4 (TTC38) F L 243 rs130642 Benign
44111 Q5R3K3 (CALHM6) G R 80 rs1057192 Benign
44112 Q5R3K3 (CALHM6) T A 100 rs10784 Benign
44113 Q5R3K3 (CALHM6) E K 293 rs11544160 Benign
44114 Q5RHP9 (ERICH3) P A 264 rs11210490 Benign
44115 Q5RHP9 (ERICH3) R H 555 rs696698 Benign
44116 Q5RHP9 (ERICH3) I V 636 rs17095653 Benign
44117 Q5RHP9 (ERICH3) H R 691 rs2305549 Benign
44118 Q5RHP9 (ERICH3) L V 1056 rs11580409 Benign
44119 Q5RHP9 (ERICH3) V M 1528 rs9326116 Benign
44120 Q5RI15 (COX20) T P 52 rs587777004 Disease: Mitochondria l complex IV deficiency (MT-C4D) [MIM:220110]
44121 Q5RI15 (COX20) N S 118 rs61749963 Benign
44122 Q5RIA9 (CBWD5) T A 147 rs7874545 Benign
44123 Q5RIA9 (CBWD5) E D 288 rs1127334 Benign
44124 Q5S007 (LRRK2) R H 50 rs2256408 Benign
44125 Q5S007 (LRRK2) L P 119 rs33995463 Benign
44126 Q5S007 (LRRK2) C S 228 rs56108242 Benign
44127 Q5S007 (LRRK2) A V 419 rs34594498 Benign
44128 Q5S007 (LRRK2) N K 551 rs7308720 Benign
44129 Q5S007 (LRRK2) M V 712 rs199566791 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44130 Q5S007 (LRRK2) A V 716 rs281865043 Benign
44131 Q5S007 (LRRK2) I V 723 rs10878307 Benign
44132 Q5S007 (LRRK2) P L 755 rs34410987 Benign
44133 Q5S007 (LRRK2) K E 871 rs281865044 Benign
44134 Q5S007 (LRRK2) D Y 944 rs17519916 Benign
44135 Q5S007 (LRRK2) R Q 1067 rs111341148 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44136 Q5S007 (LRRK2) I V 1122 rs34805604 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44137 Q5S007 (LRRK2) S T 1228 rs60185966 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44138 Q5S007 (LRRK2) P A 1262 rs4640000 Benign
44139 Q5S007 (LRRK2) D E 1375 rs28365226 Benign
44140 Q5S007 (LRRK2) R H 1398 rs7133914 Benign
44141 Q5S007 (LRRK2) R C 1441 rs33939927 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44142 Q5S007 (LRRK2) R G 1441 rs33939927 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44143 Q5S007 (LRRK2) R H 1441 rs34995376 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44144 Q5S007 (LRRK2) R P 1628 rs33949390 Benign
44145 Q5S007 (LRRK2) M T 1646 rs35303786 Benign
44146 Q5S007 (LRRK2) S T 1647 rs11564148 Benign
44147 Q5S007 (LRRK2) Y C 1699 rs35801418 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44148 Q5S007 (LRRK2) R H 1728 rs145364431 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44149 Q5S007 (LRRK2) R L 1728 rs145364431 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44150 Q5S007 (LRRK2) L F 1870 rs281865053 Benign
44151 Q5S007 (LRRK2) R H 1941 rs77428810 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44152 Q5S007 (LRRK2) G S 2019 rs34637584 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44153 Q5S007 (LRRK2) I T 2020 rs35870237 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44154 Q5S007 (LRRK2) T S 2031 rs78029637 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44155 Q5S007 (LRRK2) N D 2081 rs33995883 Benign
44156 Q5S007 (LRRK2) P L 2119 rs12423862 Benign
44157 Q5S007 (LRRK2) T M 2141 rs111691891 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44158 Q5S007 (LRRK2) R H 2143 rs201271001 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44159 Q5S007 (LRRK2) D H 2175 rs72547981 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44160 Q5S007 (LRRK2) Y C 2189 rs35658131 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44161 Q5S007 (LRRK2) N I 2261 rs12581902 Benign
44162 Q5S007 (LRRK2) T I 2356 rs113511708 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44163 Q5S007 (LRRK2) G R 2385 rs34778348 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44164 Q5S007 (LRRK2) V M 2390 rs79546190 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44165 Q5S007 (LRRK2) E K 2395 rs78964014 Benign
44166 Q5S007 (LRRK2) M T 2397 rs3761863 Benign
44167 Q5S007 (LRRK2) L I 2439 rs72547983 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44168 Q5S007 (LRRK2) L H 2466 rs281865057 Disease: Parkinson disease 8 (PARK8) [MIM:607060]
44169 Q5SGD2 (PPM1L) A S 262 rs13326359 Benign
44170 Q5SNV9 (C1orf167) P S 453 rs6668699 Benign
44171 Q5SNV9 (C1orf167) R Q 544 rs4845880 Benign
44172 Q5SNV9 (C1orf167) R W 602 rs6667720 Benign
44173 Q5SNV9 (C1orf167) W R 782 rs6699881 Benign
44174 Q5SNV9 (C1orf167) R C 800 rs7538516 Benign
44175 Q5SNV9 (C1orf167) S I 848 rs6697244 Benign
44176 Q5SNV9 (C1orf167) R H 944 rs4846043 Benign
44177 Q5SNV9 (C1orf167) W R 955 rs4846044 Benign
44178 Q5SNV9 (C1orf167) R H 1215 rs3737967 Benign
44179 Q5SNV9 (C1orf167) C S 1295 rs1537514 Benign
44180 Q5SNV9 (C1orf167) R G 1451 rs868014 Benign
44181 Q5SQ64 (LY6G6F) P Q 34 rs17200983 Benign
44182 Q5SQ64 (LY6G6F) P S 39 rs805295 Benign
44183 Q5SQ64 (LY6G6F) A T 107 rs9267547 Benign
44184 Q5SQ64 (LY6G6F) R K 167 rs2242653 Benign
44185 Q5SQN1 (SNAP47) R G 48 rs2236359 Benign
44186 Q5SQN1 (SNAP47) G R 119 rs12239037 Benign
44187 Q5SQN1 (SNAP47) V M 154 rs2236358 Benign
44188 Q5SQN1 (SNAP47) R C 381 rs17851681 Benign
44189 Q5SQQ9 (VAX1) R S 152 rs387907252 Disease: Microphthalm ia, syndromic, 11 (MCOPS11) [MIM:614402]
44190 Q5SQS7 (SH2D4B) H R 237 rs7075840 Benign
44191 Q5SQS7 (SH2D4B) S L 239 rs11817391 Benign
44192 Q5SQS8 (C10orf120) T K 20 rs41448048 Benign
44193 Q5SQS8 (C10orf120) A T 269 rs2947594 Benign
44194 Q5SR56 (MFSD14B) V L 406 rs17851857 Benign
44195 Q5SRE5 (NUP188) A V 1419 rs17433024 Benign
44196 Q5SRE5 (NUP188) N K 1587 rs12350674 Benign
44197 Q5SRE7 (PHYHD1) R W 222 rs10988159 Benign
44198 Q5SRN2 (TSBP1) C R 30 rs3129941 Benign
44199 Q5SRN2 (TSBP1) Y H 36 rs9268384 Benign
44200 Q5SRN2 (TSBP1) Y C 69 rs9268368 Benign
44201 Q5SRN2 (TSBP1) P L 128 rs1033500 Benign
44202 Q5SRN2 (TSBP1) I F 150 rs1265754 Benign
44203 Q5SRN2 (TSBP1) P L 161 rs1003878 Benign
44204 Q5SRN2 (TSBP1) S P 170 rs9405090 Benign
44205 Q5SRN2 (TSBP1) S P 227 rs560505 Benign
44206 Q5SRN2 (TSBP1) L W 266 rs4947338 Benign
44207 Q5SRN2 (TSBP1) P S 274 rs34498363 Benign
44208 Q5SRN2 (TSBP1) I V 315 rs3749966 Benign
44209 Q5SRN2 (TSBP1) K Q 400 rs7775397 Benign
44210 Q5SRN2 (TSBP1) A T 433 rs16870005 Benign
44211 Q5SRN2 (TSBP1) G V 479 rs7751028 Benign
44212 Q5SSG8 (MUC21) V A 98 rs1634730 Benign
44213 Q5SSG8 (MUC21) D E 139 rs9262324 Benign
44214 Q5SSG8 (MUC21) E G 161 rs9262337 Benign
44215 Q5SSG8 (MUC21) E D 244 rs113760893 Benign
44216 Q5SSG8 (MUC21) G S 253 rs11756238 Benign
44217 Q5SSG8 (MUC21) I T 282 rs9262368 Benign
44218 Q5SSG8 (MUC21) I V 282 rs9262367 Benign
44219 Q5SSG8 (MUC21) V A 285 rs9262370 Benign
44220 Q5SSG8 (MUC21) E D 289 rs41288665 Benign
44221 Q5SSG8 (MUC21) N S 313 rs9262379 Benign
44222 Q5SSG8 (MUC21) A V 315 rs41288675 Benign
44223 Q5SSG8 (MUC21) D E 319 rs9262380 Benign
44224 Q5SSG8 (MUC21) T P 323 rs41288679 Benign
44225 Q5SSG8 (MUC21) S N 328 rs41288681 Benign
44226 Q5SSQ6 (SAPCD1) P S 30 rs17201151 Benign
44227 Q5SSQ6 (SAPCD1) P L 99 rs6905572 Benign
44228 Q5ST30 (VARS2) H Y 26 rs6926224 Benign
44229 Q5ST30 (VARS2) G R 64 rs6926723 Benign
44230 Q5ST30 (VARS2) T I 337 rs587777585 Disease: Combined oxidative phosphorylat ion deficiency 20 (COXPD20) [MIM:615917]
44231 Q5ST30 (VARS2) A T 349 rs587777583 Disease: Combined oxidative phosphorylat ion deficiency 20 (COXPD20) [MIM:615917]
44232 Q5ST30 (VARS2) W R 449 rs2249464 Benign
44233 Q5ST30 (VARS2) A D 596 rs587777584 Disease: Combined oxidative phosphorylat ion deficiency 20 (COXPD20) [MIM:615917]
44234 Q5ST30 (VARS2) V L 680 rs2074506 Benign
44235 Q5ST30 (VARS2) V M 765 rs55865499 Benign
44236 Q5ST30 (VARS2) R Q 917 rs9394021 Benign
44237 Q5ST30 (VARS2) A T 965 rs2252863 Benign
44238 Q5ST30 (VARS2) R Q 1049 rs4678 Benign
44239 Q5SV17 (TMEM240) T M 80 rs606231454 Disease: Spinocerebel lar ataxia 21 (SCA21) [MIM:607454]
44240 Q5SV17 (TMEM240) R C 116 rs606231453 Disease: Spinocerebel lar ataxia 21 (SCA21) [MIM:607454]
44241 Q5SV17 (TMEM240) E K 149 rs546291208 Disease: Spinocerebel lar ataxia 21 (SCA21) [MIM:607454]
44242 Q5SV17 (TMEM240) P L 170 rs606231451 Disease: Spinocerebel lar ataxia 21 (SCA21) [MIM:607454]
44243 Q5SV17 (TMEM240) R W 171 rs606231455 Disease: Spinocerebel lar ataxia 21 (SCA21) [MIM:607454]
44244 Q5SVQ8 (ZBTB41) D Y 327 rs10494751 Benign
44245 Q5SVZ6 (ZMYM1) V M 73 rs2971408 Benign
44246 Q5SVZ6 (ZMYM1) R Q 454 rs7552714 Benign
44247 Q5SVZ6 (ZMYM1) E G 493 rs16837197 Benign
44248 Q5SW24 (DACT2) E G 351 rs6925614 Benign
44249 Q5SW24 (DACT2) T P 541 rs10945501 Benign
44250 Q5SW79 (CEP170) G S 213 rs2631092 Benign
44251 Q5SW96 (LDLRAP1) T M 56 rs752849346 Disease: -
44252 Q5SW96 (LDLRAP1) S P 202 rs6687605 Benign
44253 Q5SW96 (LDLRAP1) S H 202 rs386629678 Disease: Hypercholest erolemia, autosomal recessive (ARH) [MIM:603813]
44254 Q5SWA1 (PPP1R15B) P S 26 rs12094135 Benign
44255 Q5SWA1 (PPP1R15B) E K 144 rs4492688 Benign
44256 Q5SWA1 (PPP1R15B) N S 308 rs3014626 Benign
44257 Q5SWA1 (PPP1R15B) E G 363 rs2089891 Benign
44258 Q5SWA1 (PPP1R15B) K E 589 rs17855962 Benign
44259 Q5SWA1 (PPP1R15B) R C 658 rs869025335 Disease: Microcephaly , short stature, and impaired glucose metabolism 2 (MSSGM2) [MIM:616817]
44260 Q5SWX8 (ODR4) S C 251 rs12084264 Benign
44261 Q5SXH7 (PLEKHS1) S Y 254 - Benign
44262 Q5SXH7 (PLEKHS1) V I 337 rs34024791 Benign
44263 Q5SXM1 (ZNF678) K E 144 rs17854209 Benign
44264 Q5SXM1 (ZNF678) P T 152 rs61283390 Benign
44265 Q5SXM1 (ZNF678) T I 197 rs12118505 Benign
44266 Q5SXM2 (SNAPC4) D N 44 rs7031489 Benign
44267 Q5SXM2 (SNAPC4) H Q 799 rs3812571 Benign
44268 Q5SXM2 (SNAPC4) P S 1448 rs3812561 Benign
44269 Q5SXM8 (DNLZ) P H 169 rs3812553 Benign
44270 Q5SXM8 (DNLZ) S T 178 rs3812552 Benign
44271 Q5SY16 (NOL9) R W 10 rs4908923 Benign
44272 Q5SY16 (NOL9) W R 50 rs6693400 Benign
44273 Q5SY16 (NOL9) S A 58 rs6693391 Benign
44274 Q5SY16 (NOL9) I V 420 rs17029613 Benign
44275 Q5SY80 (CATSPERE) T S 56 rs58602830 Benign
44276 Q5SY80 (CATSPERE) T K 66 rs11586356 Benign
44277 Q5SYB0 (FRMPD1) T P 6 rs3747539 Benign
44278 Q5SYB0 (FRMPD1) A T 44 rs2296556 Benign
44279 Q5SYB0 (FRMPD1) T N 50 rs7031966 Benign
44280 Q5SYB0 (FRMPD1) A V 225 rs1359590 Benign
44281 Q5SYB0 (FRMPD1) Y D 846 rs34233395 Benign
44282 Q5SYB0 (FRMPD1) G E 1092 rs35075933 Benign
44283 Q5SYE7 (NHSL1) V M 1085 rs3734305 Benign
44284 Q5SYE7 (NHSL1) G S 1585 rs11540147 Benign
44285 Q5SZB4 (C9orf50) R K 248 rs918165 Benign
44286 Q5SZB4 (C9orf50) R Q 312 rs3213763 Benign
44287 Q5SZB4 (C9orf50) R Q 381 rs2302779 Benign
44288 Q5SZB4 (C9orf50) K R 415 rs3087721 Benign
44289 Q5SZD1 (C6orf141) Q E 137 rs6919674 Benign
44290 Q5SZD1 (C6orf141) P L 235 rs9473588 Benign
44291 Q5SZI1 (LDLRAD2) N T 134 rs10917051 Benign
44292 Q5SZK8 (FREM2) R K 722 rs58363253 Benign
44293 Q5SZK8 (FREM2) S P 745 rs2496423 Benign
44294 Q5SZK8 (FREM2) V M 770 rs7327915 Benign
44295 Q5SZK8 (FREM2) L V 868 rs7329939 Benign
44296 Q5SZK8 (FREM2) M K 1039 rs2496424 Benign
44297 Q5SZK8 (FREM2) I S 1045 rs17058433 Benign
44298 Q5SZK8 (FREM2) F S 1070 rs2496425 Benign
44299 Q5SZK8 (FREM2) R H 1668 rs1868463 Benign
44300 Q5SZK8 (FREM2) R W 1840 rs9603422 Benign
44301 Q5SZK8 (FREM2) E K 1972 rs121434356 Disease: Fraser syndrome 2 (FRASRS2) [MIM:617666]
44302 Q5SZK8 (FREM2) R C 2066 rs9548505 Benign
44303 Q5SZK8 (FREM2) T S 2153 rs9548506 Benign
44304 Q5SZK8 (FREM2) R W 2167 rs114837786 Disease: Fraser syndrome 2 (FRASRS2) [MIM:617666]
44305 Q5SZK8 (FREM2) T I 2326 rs9548509 Benign
44306 Q5SZK8 (FREM2) A V 2962 rs7996253 Benign
44307 Q5SZL2 (CEP85L) S G 137 rs3734381 Benign
44308 Q5SZL2 (CEP85L) D V 166 rs9489444 Benign
44309 Q5SZL2 (CEP85L) P T 251 rs3734382 Benign
44310 Q5SZL2 (CEP85L) Q H 532 rs9489410 Benign
44311 Q5SZL2 (CEP85L) M V 640 rs7743702 Benign
44312 Q5T011 (SZT2) S I 499 rs886041034 Disease: Epileptic encephalopat hy, early infantile, 18 (EIEE18) [MIM:615476]
44313 Q5T013 (HYI) D N 239 rs17850049 Benign
44314 Q5T035 (C9orf129) R H 191 rs36081907 Benign
44315 Q5T036 (FAM120AOS) L F 22 rs1055710 Benign
44316 Q5T036 (FAM120AOS) K E 241 rs10821128 Benign
44317 Q5T089 (MORN1) L V 124 rs12130128 Benign
44318 Q5T089 (MORN1) H Y 330 rs17851912 Benign
44319 Q5T0F9 (CC2D1B) M T 35 rs11555349 Benign
44320 Q5T0J3 (C1orf220) P L 3 rs12568310 Benign
44321 Q5T0J7 (TEX35) E G 55 rs16852957 Benign
44322 Q5T0J7 (TEX35) A G 146 rs12079481 Benign
44323 Q5T0J7 (TEX35) L P 171 rs3813636 Benign
44324 Q5T0J7 (TEX35) L R 171 rs3813636 Benign
44325 Q5T0L3 (SPATA46) A V 69 rs164181 Benign
44326 Q5T0L3 (SPATA46) R H 217 rs17853130 Benign
44327 Q5T0N1 (CFAP70) W L 849 rs12256262 Benign
44328 Q5T0N1 (CFAP70) N D 944 rs4294502 Benign
44329 Q5T0T0 (MARCHF8) P S 92 rs3764990 Benign
44330 Q5T0T0 (MARCHF8) Y H 266 rs7908745 Benign
44331 Q5T0U0 (CCDC122) I T 269 rs9567280 Benign
44332 Q5T0W9 (FAM83B) N S 410 rs13211183 Benign
44333 Q5T0W9 (FAM83B) S R 435 rs9475076 Benign
44334 Q5T0W9 (FAM83B) K T 640 rs239798 Benign
44335 Q5T0W9 (FAM83B) T N 907 rs9475077 Benign
44336 Q5T0Z8 (C6orf132) K N 4 rs9688934 Benign
44337 Q5T124 (UBXN11) E G 165 rs6695966 Benign
44338 Q5T124 (UBXN11) L R 312 rs4332350 Benign
44339 Q5T124 (UBXN11) A V 474 - Benign
44340 Q5T124 (UBXN11) P S 509 rs1134584 Benign
44341 Q5T160 (RARS2) K R 291 rs17850652 Benign
44342 Q5T160 (RARS2) I V 331 rs3757370 Benign
44343 Q5T160 (RARS2) D G 367 rs1108758 Benign
44344 Q5T197 (DCST1) T I 158 rs9427170 Benign
44345 Q5T197 (DCST1) M L 512 rs11264300 Benign
44346 Q5T1B0 (AXDND1) I L 522 rs11577579 Benign
44347 Q5T1B0 (AXDND1) A V 742 rs17369441 Benign
44348 Q5T1B0 (AXDND1) E Q 991 rs6425573 Benign
44349 Q5T1B0 (AXDND1) Q E 993 rs6658180 Benign
44350 Q5T1C6 (THEM4) L R 17 rs3748805 Benign
44351 Q5T1C6 (THEM4) S C 38 rs144257719 Benign
44352 Q5T1H1 (EYS) P Q 94 rs111947397 Benign
44353 Q5T1H1 (EYS) V I 112 rs112609906 Benign
44354 Q5T1H1 (EYS) T M 120 rs12193967 Benign
44355 Q5T1H1 (EYS) V F 136 rs543011021 Benign
44356 Q5T1H1 (EYS) S N 326 rs112822256 Benign
44357 Q5T1H1 (EYS) K N 532 rs61753611 Benign
44358 Q5T1H1 (EYS) R L 551 - Benign
44359 Q5T1H1 (EYS) Q R 571 rs61753610 Benign
44360 Q5T1H1 (EYS) G S 618 rs142450703 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44361 Q5T1H1 (EYS) G S 631 rs9342464 Benign
44362 Q5T1H1 (EYS) E V 641 rs17411795 Benign
44363 Q5T1H1 (EYS) N S 745 rs201652272 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44364 Q5T1H1 (EYS) V I 834 rs112464110 Benign
44365 Q5T1H1 (EYS) L P 852 rs9294631 Benign
44366 Q5T1H1 (EYS) K R 938 rs367857088 Benign
44367 Q5T1H1 (EYS) T S 1110 rs143327210 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44368 Q5T1H1 (EYS) N K 1163 rs150951106 Benign
44369 Q5T1H1 (EYS) C R 1176 - Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44370 Q5T1H1 (EYS) I F 1232 rs190009374 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44371 Q5T1H1 (EYS) I V 1263 rs17404123 Benign
44372 Q5T1H1 (EYS) Q E 1325 rs12663622 Benign
44373 Q5T1H1 (EYS) I V 1361 rs17403955 Benign
44374 Q5T1H1 (EYS) K E 1365 rs16895519 Benign
44375 Q5T1H1 (EYS) L S 1419 rs624851 Benign
44376 Q5T1H1 (EYS) I T 1451 rs62415828 Benign
44377 Q5T1H1 (EYS) W R 1484 rs1260400598 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44378 Q5T1H1 (EYS) R W 1515 rs62415827 Benign
44379 Q5T1H1 (EYS) S G 1517 rs62415826 Benign
44380 Q5T1H1 (EYS) D V 1662 rs147641443 Benign
44381 Q5T1H1 (EYS) T I 1664 rs561830314 Benign
44382 Q5T1H1 (EYS) D Y 1682 rs75831552 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44383 Q5T1H1 (EYS) P L 1739 - Benign
44384 Q5T1H1 (EYS) E G 1747 rs535663619 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44385 Q5T1H1 (EYS) L F 1748 rs57312007 Benign
44386 Q5T1H1 (EYS) W S 1837 rs199689193 Benign
44387 Q5T1H1 (EYS) L M 1869 - Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44388 Q5T1H1 (EYS) L V 1873 rs16895517 Benign
44389 Q5T1H1 (EYS) N I 1902 rs9353806 Benign
44390 Q5T1H1 (EYS) S G 1915 rs188093810 Benign
44391 Q5T1H1 (EYS) T P 1987 rs1278246029 Benign
44392 Q5T1H1 (EYS) T A 1993 rs115066356 Benign
44393 Q5T1H1 (EYS) I V 1999 rs893294562 Benign
44394 Q5T1H1 (EYS) G V 2017 rs868349465 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44395 Q5T1H1 (EYS) V D 2040 rs201580493 Benign
44396 Q5T1H1 (EYS) C Y 2139 rs749909863 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44397 Q5T1H1 (EYS) N S 2151 rs141603172 Benign
44398 Q5T1H1 (EYS) L P 2189 - Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44399 Q5T1H1 (EYS) R Q 2326 rs4710457 Benign
44400 Q5T1H1 (EYS) E K 2503 rs768964978 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44401 Q5T1H1 (EYS) S C 2556 rs66462731 Benign
44402 Q5T1H1 (EYS) H R 2599 rs74636274 Benign
44403 Q5T1H1 (EYS) A P 2757 rs1250317776 Benign
44404 Q5T1H1 (EYS) A T 2829 rs111991705 Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44405 Q5T1H1 (EYS) T I 2831 rs144513453 Benign
44406 Q5T1H1 (EYS) C Y 2911 - Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44407 Q5T1H1 (EYS) G E 2928 - Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44408 Q5T1H1 (EYS) Q E 2945 - Disease: Retinitis pigmentosa 25 (RP25) [MIM:602772]
44409 Q5T1M5 (FKBP15) A T 106 rs1133618 Benign
44410 Q5T1M5 (FKBP15) H Q 413 rs10435864 Benign
44411 Q5T1M5 (FKBP15) L F 434 rs10465129 Benign
44412 Q5T1M5 (FKBP15) A S 847 rs1128116 Benign
44413 Q5T1M5 (FKBP15) P T 993 rs57348436 Benign
44414 Q5T1N1 (AKNAD1) S N 61 rs1277207 Benign
44415 Q5T1N1 (AKNAD1) A V 104 rs17621411 Benign
44416 Q5T1N1 (AKNAD1) E G 167 rs17852793 Benign
44417 Q5T1N1 (AKNAD1) H Y 255 rs9440631 Benign
44418 Q5T1N1 (AKNAD1) L V 352 rs11580913 Benign
44419 Q5T1N1 (AKNAD1) G V 582 rs12060255 Benign
44420 Q5T1N1 (AKNAD1) N K 616 rs7551421 Benign
44421 Q5T1N1 (AKNAD1) C Y 654 rs7522157 Benign
44422 Q5T1R4 (HIVEP3) V I 35 rs2146315 Benign
44423 Q5T1R4 (HIVEP3) H R 575 rs2810566 Benign
44424 Q5T1R4 (HIVEP3) Q H 1087 rs17363472 Benign
44425 Q5T1R4 (HIVEP3) A P 2023 rs2483689 Benign
44426 Q5T1R4 (HIVEP3) D A 2109 rs2991344 Benign
44427 Q5T1R4 (HIVEP3) G R 2272 rs11809423 Benign
44428 Q5T1R4 (HIVEP3) T A 2339 rs9439043 Benign
44429 Q5T1V6 (DDX59) I V 107 rs3795634 Benign
44430 Q5T1V6 (DDX59) V G 367 rs587777067 Disease: Orofaciodigi tal syndrome 5 (OFD5) [MIM:174300]
44431 Q5T1V6 (DDX59) S R 472 rs17854157 Benign
44432 Q5T1V6 (DDX59) G R 534 rs886037652 Disease: Orofaciodigi tal syndrome 5 (OFD5) [MIM:174300]
44433 Q5T200 (ZC3H13) E D 1429 rs9534264 Benign
44434 Q5T230 (UTF1) G R 73 rs11599284 Benign
44435 Q5T280 (SPOUT1) A V 63 rs34500948 Benign
44436 Q5T280 (SPOUT1) T R 130 rs6478854 Benign
44437 Q5T280 (SPOUT1) I T 369 rs2280843 Benign
44438 Q5T292 (TMEM273) P L 83 rs12257132 Benign
44439 Q5T2D2 (TREML2) G C 19 rs4418164 Benign
44440 Q5T2D2 (TREML2) V M 50 rs35512890 Benign
44441 Q5T2D2 (TREML2) S G 144 rs3747742 Benign
44442 Q5T2D2 (TREML2) V I 285 rs35521209 Benign
44443 Q5T2D3 (OTUD3) N S 321 rs2298110 Benign
44444 Q5T2D3 (OTUD3) A T 333 rs10916668 Benign
44445 Q5T2L2 (AKR1C8P) R H 50 rs7097295 Benign
44446 Q5T2Q4 (CCNYL2) V E 57 rs2490085 Benign
44447 Q5T2Q4 (CCNYL2) R Q 176 rs2489720 Benign
44448 Q5T2Q4 (CCNYL2) I V 288 rs2505861 Benign
44449 Q5T2R2 (PDSS1) D E 308 rs119463988 Disease: Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651]
44450 Q5T2S8 (ARMC4) I T 343 rs4405206 Benign
44451 Q5T2S8 (ARMC4) L W 927 rs587777047 Disease: Ciliary dyskinesia, primary, 23 (CILD23) [MIM:615451]
44452 Q5T2S8 (ARMC4) N K 935 rs35181927 Benign
44453 Q5T2S8 (ARMC4) A S 1041 rs3737184 Benign
44454 Q5T2T1 (MPP7) K R 322 rs2997211 Benign
44455 Q5T3F8 (TMEM63B) V M 307 rs4714759 Benign
44456 Q5T3J3 (LRIF1) A T 438 rs2232041 Benign
44457 Q5T3J3 (LRIF1) S P 599 rs2232045 Benign
44458 Q5T3J3 (LRIF1) I M 641 rs2232047 Benign
44459 Q5T3U5 (ABCC10) I T 948 rs2125739 Benign
44460 Q5T440 (IBA57) G S 211 rs2298014 Benign
44461 Q5T440 (IBA57) Q P 314 rs587777016 Disease: Multiple mitochondria l dysfunctions syndrome 3 (MMDS3) [MIM:615330]
44462 Q5T442 (GJC2) I M 36 rs75469429 Disease: Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]
44463 Q5T442 (GJC2) S L 48 rs267606847 Disease: Lymphatic malformation 3 (LMPHM3) [MIM:613480]
44464 Q5T442 (GJC2) P S 90 rs74315312 Disease: Leukodystrop hy, hypomyelinat ing, 2 (HLD2) [MIM:608804]
44465 Q5T442 (GJC2) G S 149 rs577325764 Benign
44466 Q5T442 (GJC2) R C 260 rs267606846 Disease: Lymphatic malformation 3 (LMPHM3) [MIM:613480]
44467 Q5T442 (GJC2) Y D 272 rs74315314 Disease: Leukodystrop hy, hypomyelinat ing, 2 (HLD2) [MIM:608804]
44468 Q5T442 (GJC2) M T 286 rs74315311 Disease: Leukodystrop hy, hypomyelinat ing, 2 (HLD2) [MIM:608804]
44469 Q5T442 (GJC2) P L 316 rs760502262 Benign
44470 Q5T481 (RBM20) P T 173 rs7908490 Benign
44471 Q5T481 (RBM20) V I 535 rs183007628 Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44472 Q5T481 (RBM20) R Q 634 rs267607001 Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44473 Q5T481 (RBM20) R W 634 rs796734066 Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44474 Q5T481 (RBM20) S A 635 - Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44475 Q5T481 (RBM20) R C 636 rs267607002 Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44476 Q5T481 (RBM20) R H 636 rs267607004 Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44477 Q5T481 (RBM20) R S 636 rs267607002 Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44478 Q5T481 (RBM20) S G 637 rs267607005 Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44479 Q5T481 (RBM20) P L 638 rs267607003 Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44480 Q5T481 (RBM20) R Q 716 rs375798246 Disease: Cardiomyopat hy, dilated 1DD (CMD1DD) [MIM:613172]
44481 Q5T481 (RBM20) W S 768 rs1417635 Benign
44482 Q5T4D3 (TMTC4) V M 286 rs3809371 Benign
44483 Q5T4D3 (TMTC4) V I 419 rs946837 Benign
44484 Q5T4F4 (ZFYVE27) V I 82 rs17108378 Benign
44485 Q5T4F4 (ZFYVE27) G V 138 rs10882993 Benign
44486 Q5T4F4 (ZFYVE27) G V 191 rs35077384 Disease: Spastic paraplegia 33, autosomal dominant (SPG33) [MIM:610244]
44487 Q5T4F7 (SFRP5) G A 7 rs11815012 Benign
44488 Q5T4H9 (MIR1915HG) R P 73 rs11012724 Benign
44489 Q5T4I8 (C6orf52) A D 13 rs7749306 Benign
44490 Q5T4S7 (UBR4) T A 1107 rs16862578 Benign
44491 Q5T4S7 (UBR4) M L 4867 rs12584 Benign
44492 Q5T4S7 (UBR4) V M 5084 rs2274010 Benign
44493 Q5T4T6 (SYCP2L) V I 94 rs6456746 Benign
44494 Q5T4T6 (SYCP2L) R W 291 rs905595849 Benign
44495 Q5T4T6 (SYCP2L) N D 647 rs3798751 Benign
44496 Q5T4T6 (SYCP2L) P S 672 rs1225746 Benign
44497 Q5T4W7 (ARTN) Q R 19 rs2242637 Benign
44498 Q5T5A4 (C1orf194) I N 122 - Disease: -
44499 Q5T5C0 (STXBP5) N S 436 rs1039084 Benign
44500 Q5T5J6 (SWT1) I V 148 rs10489579 Benign
44501 Q5T5J6 (SWT1) H R 536 rs6698109 Benign
44502 Q5T5J6 (SWT1) L F 638 rs2295950 Benign
44503 Q5T5J6 (SWT1) N D 821 rs12041704 Benign
44504 Q5T5N4 (C6orf118) R L 166 rs36007498 Benign
44505 Q5T5N4 (C6orf118) I M 256 rs510579 Benign
44506 Q5T5N4 (C6orf118) G E 271 rs17852379 Benign
44507 Q5T5N4 (C6orf118) T M 301 rs540751 Benign
44508 Q5T5N4 (C6orf118) V L 363 rs9459350 Benign
44509 Q5T5N4 (C6orf118) R Q 385 rs17856754 Benign
44510 Q5T5P2 (KIAA1217) A G 145 rs17506606 Benign
44511 Q5T5P2 (KIAA1217) A T 887 rs10828663 Benign
44512 Q5T5P2 (KIAA1217) P A 1362 rs16924863 Benign
44513 Q5T5S1 (CCDC183) M T 38 rs945386 Benign
44514 Q5T5S1 (CCDC183) L R 113 rs4546744 Benign
44515 Q5T5S1 (CCDC183) D A 129 rs7859194 Benign
44516 Q5T5S1 (CCDC183) W R 342 rs2811795 Benign
44517 Q5T5S1 (CCDC183) N T 421 rs2254143 Benign
44518 Q5T5U3 (ARHGAP21) N S 713 rs3748222 Benign
44519 Q5T5U3 (ARHGAP21) T A 1594 rs1133897 Benign
44520 Q5T5U3 (ARHGAP21) V A 1611 rs1143051 Benign
44521 Q5T5U3 (ARHGAP21) E K 1629 rs1143057 Benign
44522 Q5T5U3 (ARHGAP21) A T 1727 rs1143075 Benign
44523 Q5T5U3 (ARHGAP21) S N 1950 rs1127893 Benign
44524 Q5T5Y3 (CAMSAP1) A V 476 rs35639321 Benign
44525 Q5T601 (ADGRF1) I V 787 rs1226475 Benign
44526 Q5T619 (ZNF648) E K 42 rs12564283 Benign
44527 Q5T619 (ZNF648) N K 111 rs12568050 Benign
44528 Q5T653 (MRPL2) S F 300 rs10456521 Benign
44529 Q5T655 (CFAP58) S T 496 rs11192036 Benign
44530 Q5T655 (CFAP58) Q H 804 rs7087328 Benign
44531 Q5T681 (C10orf62) E D 121 rs7093840 Benign
44532 Q5T686 (AVPI1) A G 41 rs2275047 Benign
44533 Q5T6C5 (ATXN7L2) P S 495 rs1149172 Benign
44534 Q5T6F0 (DCAF12) R Q 131 rs11557154 Benign
44535 Q5T6F2 (UBAP2) R Q 14 rs1785506 Benign
44536 Q5T6F2 (UBAP2) P L 429 rs10971809 Benign
44537 Q5T6F2 (UBAP2) N S 606 rs307658 Benign
44538 Q5T6F2 (UBAP2) A V 756 rs307692 Benign
44539 Q5T6F2 (UBAP2) M I 762 rs16935295 Benign
44540 Q5T6J7 (IDNK) K T 185 rs1052690 Benign
44541 Q5T6L9 (ERMARD) I N 377 rs398122410 Disease: Periventricu lar nodular heterotopia 6 (PVNH6) [MIM:615544]
44542 Q5T6L9 (ERMARD) S G 540 rs4716346 Benign
44543 Q5T6X4 (FAM162B) Q H 71 rs654128 Benign
44544 Q5T6X5 (GPRC6A) P S 91 rs2274911 Benign
44545 Q5T6X5 (GPRC6A) I R 144 rs28360548 Benign
44546 Q5T6X5 (GPRC6A) I T 599 rs35937022 Benign
44547 Q5T742 (ZNF22-AS1) P L 61 rs41301609 Benign
44548 Q5T742 (ZNF22-AS1) I N 63 rs12269028 Benign
44549 Q5T749 (KPRP) Q H 14 rs17612167 Benign
44550 Q5T749 (KPRP) V A 37 rs944683 Benign
44551 Q5T749 (KPRP) C R 113 rs16834457 Benign
44552 Q5T749 (KPRP) R H 168 rs16834461 Benign
44553 Q5T749 (KPRP) C S 413 rs4329520 Benign
44554 Q5T749 (KPRP) P T 532 rs6703294 Benign
44555 Q5T750 (XP32) S T 26 rs1332500 Benign
44556 Q5T750 (XP32) T P 159 rs873775 Benign
44557 Q5T750 (XP32) L V 173 rs59194678 Benign
44558 Q5T751 (LCE1C) C Y 16 rs2006940 Benign
44559 Q5T752 (LCE1D) N S 59 rs7527180 Benign
44560 Q5T752 (LCE1D) R H 78 rs41268490 Benign
44561 Q5T753 (LCE1E) S G 59 rs11205106 Benign
44562 Q5T753 (LCE1E) G S 111 rs56313719 Benign
44563 Q5T764 (IFIT1B) L P 188 rs7072728 Benign
44564 Q5T7B8 (KIF24) D E 50 rs16935508 Benign
44565 Q5T7B8 (KIF24) R G 109 rs41274845 Benign
44566 Q5T7B8 (KIF24) M V 140 rs10972048 Benign
44567 Q5T7B8 (KIF24) W L 218 rs17350674 Benign
44568 Q5T7B8 (KIF24) S F 837 rs41274041 Benign
44569 Q5T7B8 (KIF24) T K 1077 rs34101674 Benign
44570 Q5T7M4 (C1QTNF12) G R 14 rs7539412 Benign
44571 Q5T7N2 (L1TD1) R S 27 rs7552335 Benign
44572 Q5T7N2 (L1TD1) V A 246 rs7542665 Benign
44573 Q5T7N2 (L1TD1) V M 309 rs7533274 Benign
44574 Q5T7N2 (L1TD1) K N 329 rs2457828 Benign
44575 Q5T7N2 (L1TD1) P T 549 rs11207933 Benign
44576 Q5T7N2 (L1TD1) T I 613 rs2886644 Benign
44577 Q5T7N2 (L1TD1) L V 860 rs11207934 Benign
44578 Q5T7N3 (KANK4) G S 701 rs17123306 Benign
44579 Q5T7N3 (KANK4) T A 768 rs11207949 Benign
44580 Q5T7N3 (KANK4) H R 822 rs2258470 Benign
44581 Q5T7N3 (KANK4) V A 840 rs2666472 Benign
44582 Q5T7N3 (KANK4) V L 935 rs2941679 Benign
44583 Q5T7N3 (KANK4) A V 987 rs34591898 Benign
44584 Q5T7V8 (GORAB) E K 320 rs913257 Benign
44585 Q5T7W7 (TSTD2) R Q 83 rs2773347 Benign
44586 Q5T7W7 (TSTD2) A D 109 rs10817858 Benign
44587 Q5T848 (GPR158) A G 425 rs2480345 Benign
44588 Q5T848 (GPR158) I V 1209 rs10828833 Benign
44589 Q5T890 (ERCC6L2) V A 592 rs2274654 Benign
44590 Q5T8A7 (PPP1R26) V A 98 rs3748192 Benign
44591 Q5T8A7 (PPP1R26) K E 206 rs3928777 Benign
44592 Q5T8A7 (PPP1R26) R K 346 rs914644 Benign
44593 Q5T8A7 (PPP1R26) M T 434 rs1808998 Benign
44594 Q5T8A7 (PPP1R26) R H 520 rs3748195 Benign
44595 Q5T8A7 (PPP1R26) G S 576 rs17854528 Benign
44596 Q5T8A7 (PPP1R26) N D 834 rs2078266 Benign
44597 Q5T8D3 (ACBD5) T M 472 rs7918793 Benign
44598 Q5T8I9 (HENMT1) T A 129 rs9988420 Benign
44599 Q5T8I9 (HENMT1) R Q 230 rs35974434 Benign
44600 Q5T8I9 (HENMT1) M I 361 rs17850887 Benign
44601 Q5T8P6 (RBM26) V D 718 rs10767 Benign
44602 Q5T8R8 (DOCK8-AS1) L R 43 rs636922 Benign
44603 Q5T8R8 (DOCK8-AS1) R Q 178 rs2236547 Benign
44604 Q5T8R8 (DOCK8-AS1) R G 231 rs540473 Benign
44605 Q5T953 (IER5L) P S 105 rs184457 Benign
44606 Q5T9A4 (ATAD3B) V I 7 rs1240504 Benign
44607 Q5T9L3 (WLS) V I 465 rs983034 Benign
44608 Q5T9Z0 (TEDDM1) Y H 130 rs6674281 Benign
44609 Q5TA76 (LCE3A) R C 59 rs16834245 Benign
44610 Q5TA78 (LCE4A) G V 95 rs10888510 Benign
44611 Q5TA79 (LCE2A) C Y 20 rs58733562 Benign
44612 Q5TA82 (LCE2D) C Y 92 rs11205064 Benign
44613 Q5TAA0 (TTC22) L V 14 rs671108 Benign
44614 Q5TAH2 (SLC9C2) T M 481 rs7551131 Benign
44615 Q5TAH2 (SLC9C2) A G 505 rs16846206 Benign
44616 Q5TAH2 (SLC9C2) R S 934 rs17854214 Benign
44617 Q5TAP6 (UTP14C) G V 85 rs3742289 Benign
44618 Q5TAP6 (UTP14C) T A 101 rs3742290 Benign
44619 Q5TAP6 (UTP14C) R H 319 rs17402034 Benign
44620 Q5TAQ9 (DCAF8) R C 317 rs587777425 Disease: Giant axonal neuropathy 2, autosomal dominant (GAN2) [MIM:610100]
44621 Q5TAT6 (COL13A1) H Q 531 rs1061954 Benign
44622 Q5TAX3 (TUT4) D Y 796 rs12127732 Benign
44623 Q5TB30 (DEPDC1) I R 404 rs3790479 Benign
44624 Q5TB80 (CEP162) C S 266 rs17790493 Benign
44625 Q5TB80 (CEP162) E Q 272 rs16874323 Benign
44626 Q5TB80 (CEP162) S C 342 rs17790493 Benign
44627 Q5TB80 (CEP162) E Q 348 rs16874323 Benign
44628 Q5TBA9 (FRY) G S 1968 rs2806639 Benign
44629 Q5TBB1 (RNASEH2B) P H 43 rs79564863 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44630 Q5TBB1 (RNASEH2B) L R 60 rs75325951 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44631 Q5TBB1 (RNASEH2B) W L 73 rs78071087 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44632 Q5TBB1 (RNASEH2B) G S 83 rs76158094 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44633 Q5TBB1 (RNASEH2B) H R 86 rs77931005 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44634 Q5TBB1 (RNASEH2B) L F 138 rs78705382 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44635 Q5TBB1 (RNASEH2B) S I 159 rs76219783 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44636 Q5TBB1 (RNASEH2B) K T 162 rs75971463 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44637 Q5TBB1 (RNASEH2B) T I 163 rs79310911 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44638 Q5TBB1 (RNASEH2B) A T 177 rs75184679 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44639 Q5TBB1 (RNASEH2B) V M 183 rs77377571 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44640 Q5TBB1 (RNASEH2B) V G 185 rs74555752 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44641 Q5TBB1 (RNASEH2B) Y H 219 rs77391331 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44642 Q5TBB1 (RNASEH2B) S P 229 rs768565639 Disease: Aicardi- Goutieres syndrome 2 (AGS2) [MIM:610181]
44643 Q5TBC7 (BCL2L15) D N 90 rs1217381 Benign
44644 Q5TC12 (ATPAF1) S G 62 rs11211337 Benign
44645 Q5TC84 (OGFRL1) S P 47 rs112585190 Benign
44646 Q5TCH4 (CYP4A22) R C 11 rs76011927 Benign
44647 Q5TCH4 (CYP4A22) Y F 104 rs61507155 Benign
44648 Q5TCH4 (CYP4A22) K R 121 rs2758717 Benign
44649 Q5TCH4 (CYP4A22) R W 126 rs12564525 Benign
44650 Q5TCH4 (CYP4A22) G S 130 rs2056900 Benign
44651 Q5TCH4 (CYP4A22) N Y 152 rs2056899 Benign
44652 Q5TCH4 (CYP4A22) V F 185 rs4926581 Benign
44653 Q5TCH4 (CYP4A22) S N 226 rs35202523 Benign
44654 Q5TCH4 (CYP4A22) C S 230 rs35156123 Benign
44655 Q5TCH4 (CYP4A22) C R 231 rs10789501 Benign
44656 Q5TCH4 (CYP4A22) K T 276 rs6661132 Benign
44657 Q5TCH4 (CYP4A22) L P 428 rs2405599 Benign
44658 Q5TCH4 (CYP4A22) M I 491 rs2758714 Benign
44659 Q5TCH4 (CYP4A22) L F 509 rs4926600 Benign
44660 Q5TCM9 (LCE5A) C Y 40 rs2105117 Benign
44661 Q5TCX8 (MAP3K21) D N 420 rs35465006 Benign
44662 Q5TCX8 (MAP3K21) E D 563 rs35758282 Benign
44663 Q5TCX8 (MAP3K21) S F 597 rs34984140 Benign
44664 Q5TCX8 (MAP3K21) V I 728 rs3795375 Benign
44665 Q5TCX8 (MAP3K21) E D 741 rs3795374 Benign
44666 Q5TCX8 (MAP3K21) C G 784 rs963981 Benign
44667 Q5TCX8 (MAP3K21) R W 892 rs55681416 Benign
44668 Q5TCX8 (MAP3K21) T I 900 rs34499091 Benign
44669 Q5TCX8 (MAP3K21) R C 977 rs56065162 Benign
44670 Q5TCX8 (MAP3K21) P L 982 rs34794284 Benign
44671 Q5TCY1 (TTBK1) P L 613 rs34993661 Benign
44672 Q5TCY1 (TTBK1) G A 623 rs3800294 Benign
44673 Q5TCY1 (TTBK1) P R 649 rs35175743 Benign
44674 Q5TCY1 (TTBK1) D E 741 rs56377340 Benign
44675 Q5TCY1 (TTBK1) E D 744 rs3800295 Benign
44676 Q5TCY1 (TTBK1) K R 1145 rs3800297 Benign
44677 Q5TCY1 (TTBK1) L S 1184 rs3800298 Benign
44678 Q5TCZ1 (SH3PXD2A) K Q 659 rs11818820 Benign
44679 Q5TCZ1 (SH3PXD2A) R Q 1035 rs3781365 Benign
44680 Q5TCZ1 (SH3PXD2A) L P 1073 rs12764700 Benign
44681 Q5TD94 (RSPH4A) P S 87 rs767490154 Disease: Ciliary dyskinesia, primary, 11 (CILD11) [MIM:612649]
44682 Q5TD94 (RSPH4A) T S 149 rs13213314 Benign
44683 Q5TD94 (RSPH4A) R H 556 rs6927567 Benign
44684 Q5TD94 (RSPH4A) L P 589 rs784133 Benign
44685 Q5TD94 (RSPH4A) N H 627 rs9488991 Benign
44686 Q5TD94 (RSPH4A) A V 700 rs9488992 Benign
44687 Q5TD97 (FHL5) R H 35 rs35157931 Benign
44688 Q5TD97 (FHL5) R G 204 rs2273621 Benign
44689 Q5TD97 (FHL5) V M 211 rs2252816 Benign
44690 Q5TD97 (FHL5) S R 243 rs9373985 Benign
44691 Q5TDP6 (LGSN) N Y 26 rs2459568 Benign
44692 Q5TDP6 (LGSN) G E 46 rs35691434 Benign
44693 Q5TDP6 (LGSN) N H 137 rs6454127 Benign
44694 Q5TEA3 (C20orf194) T M 86 rs8124486 Benign
44695 Q5TEA3 (C20orf194) F L 265 rs149767043 Benign
44696 Q5TEA3 (C20orf194) T P 481 rs16988463 Benign
44697 Q5TEA3 (C20orf194) R G 577 rs2422864 Benign
44698 Q5TEA6 (SEL1L2) G S 477 rs11697581 Benign
44699 Q5TEA6 (SEL1L2) H Q 687 rs2073290 Benign
44700 Q5TEC3 (ZNF697) P T 158 - Benign
44701 Q5TEJ8 (THEMIS2) V L 431 rs35995543 Benign
44702 Q5TEJ8 (THEMIS2) K E 511 rs3766400 Benign
44703 Q5TEU4 (NDUFAF5) L F 159 rs267606689 Disease: Mitochondria l complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238]
44704 Q5TEU4 (NDUFAF5) L P 229 rs118203929 Disease: Mitochondria l complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238]
44705 Q5TEU4 (NDUFAF5) G V 250 rs757043077 Disease: Mitochondria l complex I deficiency, nuclear type 16 (MC1DN16) [MIM:618238]
44706 Q5TEU4 (NDUFAF5) L F 337 rs6042368 Benign
44707 Q5TF39 (MFSD4B) S P 93 rs17853558 Benign
44708 Q5TFG8 (ZC2HC1B) P S 6 rs6934118 Benign
44709 Q5TFQ8 (SIRPB1) R G 23 rs1535882 Benign
44710 Q5TFQ8 (SIRPB1) T I 51 rs1135196 Benign
44711 Q5TG30 (ARHGAP40) G R 133 rs6100455 Benign
44712 Q5TG30 (ARHGAP40) R L 413 rs6070872 Benign
44713 Q5TG30 (ARHGAP40) H N 463 rs16987460 Benign
44714 Q5TG53 (SERTAD4-A) R Q 91 rs624270 Benign
44715 Q5TGJ6 (HDGFL1) T M 87 rs2076506 Benign
44716 Q5TGL8 (PXDC1) Q H 184 rs226959 Benign
44717 Q5TGL8 (PXDC1) P Q 189 rs17855666 Benign
44718 Q5TGP6 (MROH9) N S 29 rs17563089 Benign
44719 Q5TGP6 (MROH9) V A 74 rs2294740 Benign
44720 Q5TGP6 (MROH9) Y H 160 rs16863872 Benign
44721 Q5TGY1 (TMCO4) Q K 72 rs10917536 Benign
44722 Q5TGY1 (TMCO4) R H 478 rs4515815 Benign
44723 Q5TGY3 (AHDC1) A T 935 rs4908364 Benign
44724 Q5TH69 (ARFGEF3) E D 413 rs9376338 Benign
44725 Q5TH69 (ARFGEF3) S A 689 rs7764091 Benign
44726 Q5TH69 (ARFGEF3) A T 1571 rs3736706 Benign
44727 Q5TH69 (ARFGEF3) K R 2031 rs35964895 Benign
44728 Q5THJ4 (VPS13D) A T 225 rs12057307 Benign
44729 Q5THJ4 (VPS13D) T A 865 rs1383958401 Disease: Spinocerebel lar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
44730 Q5THJ4 (VPS13D) G D 1190 - Disease: Spinocerebel lar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
44731 Q5THJ4 (VPS13D) G D 1200 rs768331333 Disease: Spinocerebel lar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
44732 Q5THJ4 (VPS13D) S L 1341 rs12407578 Benign
44733 Q5THJ4 (VPS13D) E V 1505 rs4845898 Benign
44734 Q5THJ4 (VPS13D) I T 1624 rs41279454 Benign
44735 Q5THJ4 (VPS13D) S F 1707 rs958068 Benign
44736 Q5THJ4 (VPS13D) L S 2900 - Disease: Spinocerebel lar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
44737 Q5THJ4 (VPS13D) R Q 3253 rs1191625571 Disease: Spinocerebel lar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
44738 Q5THJ4 (VPS13D) N S 3521 - Disease: Spinocerebel lar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
44739 Q5THJ4 (VPS13D) A V 4210 rs746736545 Disease: Spinocerebel lar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
44740 Q5THJ4 (VPS13D) R Q 4228 - Disease: Spinocerebel lar ataxia, autosomal recessive 4 (SCAR4) [MIM:607317]
44741 Q5THK1 (PRR14L) N S 455 rs140081 Benign
44742 Q5THK1 (PRR14L) L P 740 rs140080 Benign
44743 Q5THK1 (PRR14L) M I 876 rs17821493 Benign
44744 Q5THK1 (PRR14L) T I 961 rs140079 Benign
44745 Q5THK1 (PRR14L) D N 963 rs9619227 Benign
44746 Q5THK1 (PRR14L) S P 1151 rs12159328 Benign
44747 Q5THK1 (PRR14L) S L 1221 rs140078 Benign
44748 Q5THK1 (PRR14L) E K 1316 rs61461793 Benign
44749 Q5THK1 (PRR14L) L F 1395 rs3804090 Benign
44750 Q5THK1 (PRR14L) V I 1784 rs16989427 Benign
44751 Q5THR3 (EFCAB6) V A 166 rs16990981 Benign
44752 Q5THR3 (EFCAB6) R G 199 rs3747203 Benign
44753 Q5THR3 (EFCAB6) T A 351 rs5764214 Benign
44754 Q5THR3 (EFCAB6) S A 384 rs6006438 Benign
44755 Q5THR3 (EFCAB6) H Y 400 rs137794 Benign
44756 Q5THR3 (EFCAB6) T A 680 rs137731 Benign
44757 Q5THR3 (EFCAB6) D N 780 rs12159591 Benign
44758 Q5THR3 (EFCAB6) R W 800 rs6006514 Benign
44759 Q5THR3 (EFCAB6) A V 1059 rs9614382 Benign
44760 Q5TI25 (NBPF14) S G 243 rs3871941 Benign
44761 Q5TIA1 (MEI1) E Q 657 rs17002655 Benign
44762 Q5TIA1 (MEI1) S T 853 rs17002665 Benign
44763 Q5TIA1 (MEI1) K E 1049 rs12484839 Benign
44764 Q5TID7 (CCDC181) F S 172 rs3820059 Benign
44765 Q5TID7 (CCDC181) F I 238 rs35107735 Benign
44766 Q5TID7 (CCDC181) S C 323 rs35287513 Benign
44767 Q5TIE3 (VWA5B1) A S 319 rs2872972 Benign
44768 Q5TIE3 (VWA5B1) N S 469 rs2072752 Benign
44769 Q5TIE3 (VWA5B1) S N 506 rs12072406 Benign
44770 Q5TIE3 (VWA5B1) K R 634 rs10916769 Benign
44771 Q5TYW1 (ZNF658) S Y 68 rs2065444 Benign
44772 Q5TZ20 (OR2G6) M V 59 rs58955396 Benign
44773 Q5TZ20 (OR2G6) M L 258 rs9330305 Benign
44774 Q5TZA2 (CROCC) R G 7 rs6586566 Benign
44775 Q5TZA2 (CROCC) R Q 372 rs57442576 Benign
44776 Q5TZA2 (CROCC) A V 439 rs4463721 Benign
44777 Q5TZA2 (CROCC) D H 586 rs9435714 Benign
44778 Q5TZA2 (CROCC) R P 1097 rs6669627 Benign
44779 Q5TZA2 (CROCC) R W 1216 - Benign
44780 Q5TZA2 (CROCC) R C 1866 - Benign
44781 Q5U3C3 (TMEM164) S N 204 rs34026111 Benign
44782 Q5U5Q3 (MEX3C) T P 412 rs12970605 Benign
44783 Q5U5R9 (HECTD2) P A 19 rs7081569 Benign
44784 Q5U5X0 (LYRM7) D N 25 rs587777433 Disease: Mitochondria l complex III deficiency, nuclear 8 (MC3DN8) [MIM:615838]
44785 Q5U5Z8 (AGBL2) I R 90 rs12795414 Benign
44786 Q5U5Z8 (AGBL2) T P 333 rs35898124 Benign
44787 Q5U5Z8 (AGBL2) R H 349 rs7941404 Benign
44788 Q5U5Z8 (AGBL2) D G 368 rs1870545 Benign
44789 Q5U5Z8 (AGBL2) M I 671 rs12286721 Benign
44790 Q5U623 (ATF7IP2) S L 527 rs34834862 Benign
44791 Q5U623 (ATF7IP2) T I 537 rs9932051 Benign
44792 Q5U623 (ATF7IP2) A T 543 rs9931441 Benign
44793 Q5U649 (C12orf60) K R 51 rs17853860 Benign
44794 Q5U649 (C12orf60) K R 65 rs7304054 Benign
44795 Q5U649 (C12orf60) N K 103 rs7307438 Benign
44796 Q5U651 (RASIP1) R C 601 rs2287922 Benign
44797 Q5UIP0 (RIF1) G S 836 rs2444263 Benign
44798 Q5UIP0 (RIF1) V M 1362 rs2123465 Benign
44799 Q5UIP0 (RIF1) R G 1686 rs3732305 Benign
44800 Q5UIP0 (RIF1) V I 1862 rs2444258 Benign
44801 Q5UIP0 (RIF1) N Y 2021 rs2444257 Benign
44802 Q5UIP0 (RIF1) M R 2165 rs16830057 Benign
44803 Q5UIP0 (RIF1) L V 2418 rs1065177 Benign
44804 Q5VIR6 (VPS53) L I 328 rs16954056 Benign
44805 Q5VIR6 (VPS53) L R 375 rs61644407 Benign
44806 Q5VIR6 (VPS53) Q R 695 rs587777465 Disease: Pontocerebel lar hypoplasia 2E (PCH2E) [MIM:615851]
44807 Q5VIY5 (ZNF468) H R 374 rs12462929 Benign
44808 Q5VIY5 (ZNF468) G R 477 rs10419826 Benign
44809 Q5VSL9 (STRIP1) K N 628 - Benign
44810 Q5VST6 (ABHD17B) R K 154 rs12380380 Benign
44811 Q5VST6 (ABHD17B) Q K 169 rs17854317 Benign
44812 Q5VST9 (OBSCN) A T 51 rs1771487 Benign
44813 Q5VST9 (OBSCN) Q R 502 rs1771487 Benign
44814 Q5VST9 (OBSCN) G S 804 rs55950009 Benign
44815 Q5VST9 (OBSCN) A T 908 rs1757153 Benign
44816 Q5VST9 (OBSCN) K R 1027 rs55760713 Benign
44817 Q5VST9 (OBSCN) A S 1086 rs117147433 Benign
44818 Q5VST9 (OBSCN) A T 1090 rs752906025 Benign
44819 Q5VST9 (OBSCN) S T 1091 rs965007403 Benign
44820 Q5VST9 (OBSCN) A P 1101 rs780907202 Benign
44821 Q5VST9 (OBSCN) G R 1121 - Benign
44822 Q5VST9 (OBSCN) L V 1133 rs777214598 Benign
44823 Q5VST9 (OBSCN) H Q 1156 - Benign
44824 Q5VST9 (OBSCN) Q H 1248 rs199523598 Benign
44825 Q5VST9 (OBSCN) V D 1508 rs7532342 Benign
44826 Q5VST9 (OBSCN) A V 1532 rs453140 Benign
44827 Q5VST9 (OBSCN) T M 1566 rs56217040 Benign
44828 Q5VST9 (OBSCN) A T 1601 rs55706639 Benign
44829 Q5VST9 (OBSCN) D E 2106 rs1188721 Benign
44830 Q5VST9 (OBSCN) F L 2116 rs1188722 Benign
44831 Q5VST9 (OBSCN) R Q 2529 rs3795783 Benign
44832 Q5VST9 (OBSCN) V M 2720 rs1188697 Benign
44833 Q5VST9 (OBSCN) R W 2812 rs3795785 Benign
44834 Q5VST9 (OBSCN) A T 3300 rs437129 Benign
44835 Q5VST9 (OBSCN) E D 3372 rs3795789 Benign
44836 Q5VST9 (OBSCN) S C 3373 rs3795790 Benign
44837 Q5VST9 (OBSCN) A V 3389 rs770177081 Benign
44838 Q5VST9 (OBSCN) D E 3426 - Benign
44839 Q5VST9 (OBSCN) R G 3834 - Benign
44840 Q5VST9 (OBSCN) G R 4039 rs435776 Benign
44841 Q5VST9 (OBSCN) H R 4381 rs1150912 Benign
44842 Q5VST9 (OBSCN) C R 4450 rs1188732 Benign
44843 Q5VST9 (OBSCN) L R 4492 rs369570923 Benign
44844 Q5VST9 (OBSCN) R W 4516 rs11810627 Benign
44845 Q5VST9 (OBSCN) R H 4534 rs4653942 Benign
44846 Q5VST9 (OBSCN) S C 4642 rs1188729 Benign
44847 Q5VST9 (OBSCN) R C 4662 rs3795800 Benign
44848 Q5VST9 (OBSCN) G S 4666 rs3795801 Benign
44849 Q5VST9 (OBSCN) A S 4823 - Benign
44850 Q5VST9 (OBSCN) D G 4962 rs373610 Benign
44851 Q5VST9 (OBSCN) L V 5269 rs369909 Benign
44852 Q5VST9 (OBSCN) R H 5575 rs3795809 Benign
44853 Q5VST9 (OBSCN) R Q 5598 rs867550675 Benign
44854 Q5VST9 (OBSCN) Q E 5891 rs1188710 Benign
44855 Q5VST9 (OBSCN) E Q 6473 - Benign
44856 Q5VST9 (OBSCN) A V 7172 rs500049 Benign
44857 Q5VT06 (CEP350) R T 892 rs6692219 Benign
44858 Q5VT06 (CEP350) E Q 945 rs2477120 Benign
44859 Q5VT06 (CEP350) G V 1213 rs12125245 Benign
44860 Q5VT06 (CEP350) T A 1445 rs16855164 Benign
44861 Q5VT06 (CEP350) T A 1446 rs16855164 Benign
44862 Q5VT06 (CEP350) S A 1517 rs12124336 Benign
44863 Q5VT06 (CEP350) T P 2044 rs56173179 Benign
44864 Q5VT25 (CDC42BPA) T M 231 rs34614709 Benign
44865 Q5VT25 (CDC42BPA) I T 537 rs56364976 Benign
44866 Q5VT25 (CDC42BPA) T M 780 rs56119119 Benign
44867 Q5VT25 (CDC42BPA) Y C 790 rs34943764 Benign
44868 Q5VT25 (CDC42BPA) A T 1148 rs56219089 Benign
44869 Q5VT25 (CDC42BPA) R H 1211 rs961490 Benign
44870 Q5VT25 (CDC42BPA) V I 1317 rs1929860 Benign
44871 Q5VT25 (CDC42BPA) I K 1418 - Benign
44872 Q5VT25 (CDC42BPA) A V 1469 rs55687355 Benign
44873 Q5VT25 (CDC42BPA) T A 1618 rs2297417 Benign
44874 Q5VT25 (CDC42BPA) A V 1699 rs2802269 Benign
44875 Q5VT25 (CDC42BPA) A V 1712 rs2802269 Benign
44876 Q5VT52 (RPRD2) M V 351 rs41273537 Benign
44877 Q5VT66 (MTARC1) L H 15 rs72470572 Benign
44878 Q5VT66 (MTARC1) V L 96 rs12023067 Benign
44879 Q5VT66 (MTARC1) T A 165 rs2642438 Benign
44880 Q5VT66 (MTARC1) M K 187 rs17850677 Benign
44881 Q5VT66 (MTARC1) C S 246 rs3738178 Benign
44882 Q5VT66 (MTARC1) D H 247 rs72470601 Benign
44883 Q5VT66 (MTARC1) M I 268 rs2642419 Benign
44884 Q5VT79 (ANXA8L1) A V 134 rs201596209 Benign
44885 Q5VT79 (ANXA8L1) A G 177 rs3013886 Benign
44886 Q5VT79 (ANXA8L1) K N 192 rs977788 Benign
44887 Q5VT97 (SYDE2) I M 484 rs12090608 Benign
44888 Q5VT97 (SYDE2) V I 569 rs817443 Benign
44889 Q5VT97 (SYDE2) V I 1157 rs709786 Benign
44890 Q5VT99 (LRRC38) L F 276 rs2940315 Benign
44891 Q5VT99 (LRRC38) K E 292 rs3013105 Benign
44892 Q5VTE6 (ANGEL2) P S 97 rs11542154 Benign
44893 Q5VTH9 (WDR78) G A 16 rs1886686 Benign
44894 Q5VTH9 (WDR78) C W 33 rs3008858 Benign
44895 Q5VTH9 (WDR78) R Q 832 rs482082 Benign
44896 Q5VTJ3 (KLHDC7A) V L 21 rs7512414 Benign
44897 Q5VTJ3 (KLHDC7A) G S 94 rs34976233 Benign
44898 Q5VTJ3 (KLHDC7A) P R 141 rs2992755 Benign
44899 Q5VTJ3 (KLHDC7A) T P 147 rs2992752 Benign
44900 Q5VTJ3 (KLHDC7A) R S 160 rs11261022 Benign
44901 Q5VTJ3 (KLHDC7A) R P 194 rs7515150 Benign
44902 Q5VTJ3 (KLHDC7A) H N 273 rs2992753 Benign
44903 Q5VTJ3 (KLHDC7A) T P 351 rs2992752 Benign
44904 Q5VTL7 (FNDC7) S N 309 rs11582005 Benign
44905 Q5VTL7 (FNDC7) V A 353 rs4494160 Benign
44906 Q5VTL7 (FNDC7) N S 367 rs3006870 Benign
44907 Q5VTL7 (FNDC7) P L 685 rs1277017 Benign
44908 Q5VTQ0 (TTC39B) T P 128 rs10961917 Benign
44909 Q5VTQ0 (TTC39B) I V 420 rs1407977 Benign
44910 Q5VTT5 (MYOM3) D H 258 rs4319261 Benign
44911 Q5VTT5 (MYOM3) T M 266 rs6678540 Benign
44912 Q5VTT5 (MYOM3) M T 344 rs4233050 Benign
44913 Q5VTT5 (MYOM3) Q R 435 rs6700245 Benign
44914 Q5VTT5 (MYOM3) D G 528 rs4393101 Benign
44915 Q5VTT5 (MYOM3) G R 662 rs4320729 Benign
44916 Q5VTT5 (MYOM3) R Q 775 rs12082295 Benign
44917 Q5VTT5 (MYOM3) P S 853 rs35446243 Benign
44918 Q5VTT5 (MYOM3) D A 892 rs36077733 Benign
44919 Q5VTT5 (MYOM3) F L 1041 rs16829083 Benign
44920 Q5VTT5 (MYOM3) I T 1066 rs12145360 Benign
44921 Q5VTT5 (MYOM3) R Q 1124 rs16829071 Benign
44922 Q5VTY9 (HHAT) E G 165 rs2228898 Benign
44923 Q5VTY9 (HHAT) S N 182 rs2294851 Benign
44924 Q5VTY9 (HHAT) C R 188 rs34228541 Benign
44925 Q5VU43 (PDE4DIP) N S 13 rs3010980 Benign
44926 Q5VU43 (PDE4DIP) R L 25 rs1664022 Benign
44927 Q5VU43 (PDE4DIP) I T 49 rs573724 Benign
44928 Q5VU43 (PDE4DIP) K E 143 rs1747958 Benign
44929 Q5VU43 (PDE4DIP) N S 150 rs3010980 Benign
44930 Q5VU43 (PDE4DIP) A T 167 rs2590120 Benign
44931 Q5VU43 (PDE4DIP) R K 171 rs3121544 Benign
44932 Q5VU43 (PDE4DIP) E A 391 rs1324366 Benign
44933 Q5VU43 (PDE4DIP) E V 410 rs1061308 Benign
44934 Q5VU43 (PDE4DIP) H R 482 rs1698681 Benign
44935 Q5VU43 (PDE4DIP) R H 681 rs1629011 Benign
44936 Q5VU43 (PDE4DIP) R C 708 rs1628172 Benign
44937 Q5VU43 (PDE4DIP) F I 1013 rs1698624 Benign
44938 Q5VU43 (PDE4DIP) A T 1066 rs1698647 Benign
44939 Q5VU43 (PDE4DIP) K E 1359 rs1747958 Benign
44940 Q5VU43 (PDE4DIP) R W 1396 rs2798901 Benign
44941 Q5VU43 (PDE4DIP) V E 1736 rs1778159 Benign
44942 Q5VU43 (PDE4DIP) A S 1742 rs1698605 Benign
44943 Q5VU57 (AGBL4) V M 443 rs60977321 Benign
44944 Q5VU65 (NUP210L) V I 1491 rs11264875 Benign
44945 Q5VU92 (DCAF12L1) D G 19 rs11095722 Benign
44946 Q5VU97 (CACHD1) M T 414 rs6588100 Benign
44947 Q5VUA4 (ZNF318) S I 407 rs34541323 Benign
44948 Q5VUA4 (ZNF318) L V 870 rs9357410 Benign
44949 Q5VUA4 (ZNF318) T I 1292 rs10948072 Benign
44950 Q5VUA4 (ZNF318) A T 1580 rs3734684 Benign
44951 Q5VUA4 (ZNF318) T I 1583 rs36107018 Benign
44952 Q5VUA4 (ZNF318) V A 1797 rs1459675 Benign
44953 Q5VUB5 (FAM171A1) P S 465 rs3814165 Benign
44954 Q5VUD6 (DIPK1B) S G 158 rs945384 Benign
44955 Q5VUG0 (SFMBT2) P R 675 rs3740212 Benign
44956 Q5VUM1 (SDHAF4) Q R 46 rs1048886 Benign
44957 Q5VUM1 (SDHAF4) R C 57 rs34711085 Benign
44958 Q5VUY0 (AADACL3) P S 104 rs3010877 Benign
44959 Q5VUY0 (AADACL3) L M 128 rs3000859 Benign
44960 Q5VUY0 (AADACL3) R W 186 rs17038445 Benign
44961 Q5VUY0 (AADACL3) F C 252 rs7513079 Benign
44962 Q5VUY0 (AADACL3) M I 307 rs3000931 Benign
44963 Q5VUY0 (AADACL3) P L 337 rs11121969 Benign
44964 Q5VV41 (ARHGEF16) R W 24 - Benign
44965 Q5VV41 (ARHGEF16) V M 137 rs3806164 Benign
44966 Q5VV41 (ARHGEF16) H Y 370 rs2185639 Benign
44967 Q5VV41 (ARHGEF16) E K 681 rs56309807 Benign
44968 Q5VV42 (CDKAL1) K R 484 rs9460608 Benign
44969 Q5VV43 (KIAA0319) T P 142 rs4576240 Benign
44970 Q5VV43 (KIAA0319) A T 311 rs4504469 Benign
44971 Q5VV43 (KIAA0319) G S 567 rs2744559 Benign
44972 Q5VV43 (KIAA0319) S G 773 rs2744550 Benign
44973 Q5VV43 (KIAA0319) V A 774 rs2817191 Benign
44974 Q5VV43 (KIAA0319) G A 919 rs10946705 Benign
44975 Q5VV43 (KIAA0319) Y C 1013 rs807534 Benign
44976 Q5VV63 (ATRNL1) S N 989 rs1953758 Benign
44977 Q5VV67 (PPRC1) S G 536 rs17114388 Benign
44978 Q5VV67 (PPRC1) P R 834 rs17855877 Benign
44979 Q5VV67 (PPRC1) R Q 1288 rs118161359 Benign
44980 Q5VVB8 (TMEM244) N I 60 rs7760577 Benign
44981 Q5VVB8 (TMEM244) F L 80 rs4629709 Benign
44982 Q5VVB8 (TMEM244) E G 86 rs9492393 Benign
44983 Q5VVB8 (TMEM244) F V 111 rs7776426 Benign
44984 Q5VVJ2 (MYSM1) C S 200 rs17118103 Benign
44985 Q5VVJ2 (MYSM1) T A 264 rs12139511 Benign
44986 Q5VVJ2 (MYSM1) H R 656 - Disease: Bone marrow failure syndrome 4 (BMFS4) [MIM:618116]
44987 Q5VVJ2 (MYSM1) E K 825 rs232777 Benign
44988 Q5VVM6 (CCDC30) H N 772 rs16829829 Benign
44989 Q5VVW2 (GARNL3) H R 108 rs11550746 Benign
44990 Q5VVW2 (GARNL3) A S 752 rs34608132 Benign
44991 Q5VVX9 (UBE2U) I T 90 rs7532933 Benign
44992 Q5VVY1 (METTL11B) A G 72 rs12073565 Benign
44993 Q5VVY1 (METTL11B) S P 150 rs6427235 Benign
44994 Q5VVY1 (METTL11B) S R 247 rs12735494 Benign
44995 Q5VW00 (DCAF12L2) H Q 147 rs10126452 Benign
44996 Q5VW36 (FOCAD) L S 166 rs10511687 Benign
44997 Q5VW36 (FOCAD) V I 234 rs10441706 Benign
44998 Q5VW36 (FOCAD) I V 523 rs17832431 Benign
44999 Q5VW36 (FOCAD) T S 718 rs7875872 Benign
45000 Q5VW36 (FOCAD) E K 721 rs10964742 Benign

Reference

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

    • zhanglabzhanggroup.org | +65-6601-1241 | Computing 1, 13 Computing Drive, Singapore 117417