ClinVar Miner

List of variants in gene AHI1 studied for Joubert syndrome 3

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Gene type:
ClinVar version:
Total variants: 471
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001134831.2(AHI1):c.10+115C>A rs9402709 0.73311
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_017651.4(AHI1):c.-293G>T rs13197384 0.29969
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_001134831.2(AHI1):c.-299G>A rs113052089 0.03529
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.01986
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01587
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01001
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00397
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00338
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00303
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=) rs36069919 0.00187
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_001134831.2(AHI1):c.*1404A>G rs149288894 0.00148
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001134831.2(AHI1):c.*1288T>C rs886061103 0.00111
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00103
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001134831.2(AHI1):c.*1146T>A rs557989991 0.00072
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669 0.00046
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272 0.00041
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001134831.2(AHI1):c.*793A>G rs191324834 0.00038
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=) rs201235386 0.00034
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001134831.2(AHI1):c.3329-7A>G rs370808684 0.00030
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00029
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_001134831.2(AHI1):c.136-8C>T rs370834009 0.00020
NM_001134831.2(AHI1):c.*1684T>C rs75518881 0.00017
NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala) rs779509262 0.00017
NM_001134831.2(AHI1):c.-214C>T rs183265971 0.00016
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg) rs373014753 0.00016
NM_001134831.2(AHI1):c.*588A>G rs555215397 0.00015
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 0.00015
NM_001134831.2(AHI1):c.3223G>A (p.Gly1075Arg) rs750115460 0.00015
NM_001134831.2(AHI1):c.3588+15A>T rs370223538 0.00015
NM_001134831.2(AHI1):c.189+12T>C rs199617785 0.00014
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=) rs121434349 0.00013
NM_001134831.2(AHI1):c.2962-3T>C rs369713977 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.*484G>A rs1045439496 0.00012
NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln) rs371243793 0.00012
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) rs375643798 0.00012
NM_001134831.2(AHI1):c.*80C>T rs536580823 0.00011
NM_001134831.2(AHI1):c.135+19G>A rs374973889 0.00011
NM_001134831.2(AHI1):c.1454A>G (p.Asn485Ser) rs375425462 0.00011
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00011
NM_001134831.2(AHI1):c.3588+1G>A rs533296867 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001134831.2(AHI1):c.1149T>C (p.Asp383=) rs371944986 0.00010
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001134831.2(AHI1):c.395C>T (p.Thr132Met) rs756217962 0.00010
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336 0.00009
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581 0.00009
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001134831.2(AHI1):c.1131A>G (p.Gln377=) rs142518256 0.00007
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg) rs539194432 0.00007
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=) rs185249049 0.00007
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_001134831.2(AHI1):c.2551T>G (p.Leu851Val) rs373971733 0.00007
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00007
NM_001134831.2(AHI1):c.573A>C (p.Ala191=) rs200993978 0.00007
NM_001134831.2(AHI1):c.10+13T>C rs973391845 0.00006
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) rs562905902 0.00006
NM_001134831.2(AHI1):c.1892G>A (p.Arg631Gln) rs780823419 0.00006
NM_001134831.2(AHI1):c.232A>G (p.Thr78Ala) rs754609881 0.00006
NM_001134831.2(AHI1):c.2561G>T (p.Cys854Phe) rs745507530 0.00006
NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys) rs370101143 0.00006
NM_001134831.2(AHI1):c.3206A>G (p.Glu1069Gly) rs367640472 0.00006
NM_001134831.2(AHI1):c.3217C>A (p.His1073Asn) rs374945386 0.00006
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187 0.00006
NM_001134831.2(AHI1):c.37A>G (p.Lys13Glu) rs763715513 0.00006
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930 0.00006
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073 0.00006
NM_001134831.2(AHI1):c.74A>G (p.Asp25Gly) rs778792339 0.00006
NM_001134831.2(AHI1):c.2623+1G>A rs751823180 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001134831.2(AHI1):c.853A>G (p.Met285Val) rs200389118 0.00005
NM_001134831.2(AHI1):c.1166C>G (p.Ser389Ter) rs761388040 0.00004
NM_001134831.2(AHI1):c.128A>G (p.Asn43Ser) rs367736269 0.00004
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile) rs761804458 0.00004
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147 0.00004
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) rs772989270 0.00004
NM_001134831.2(AHI1):c.2407A>G (p.Ile803Val) rs763696602 0.00004
NM_001134831.2(AHI1):c.2432A>G (p.Asn811Ser) rs375584168 0.00004
NM_001134831.2(AHI1):c.2492+15G>A rs535243555 0.00004
NM_001134831.2(AHI1):c.2920A>G (p.Thr974Ala) rs774471595 0.00004
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) rs371242173 0.00004
NM_001134831.2(AHI1):c.3329-20A>G rs1004117268 0.00004
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) rs1020870112 0.00004
NM_001134831.2(AHI1):c.3588G>A (p.Glu1196=) rs201791936 0.00004
NM_001134831.2(AHI1):c.*387T>G rs886061107 0.00003
NM_001134831.2(AHI1):c.-347C>T rs1456963108 0.00003
NM_001134831.2(AHI1):c.1018G>C (p.Asp340His) rs368748793 0.00003
NM_001134831.2(AHI1):c.1272T>G (p.Ile424Met) rs752889085 0.00003
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362 0.00003
NM_001134831.2(AHI1):c.1917T>C (p.Tyr639=) rs764412921 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 0.00003
NM_001134831.2(AHI1):c.2380A>G (p.Lys794Glu) rs779574810 0.00003
NM_001134831.2(AHI1):c.242A>G (p.Asp81Gly) rs538208208 0.00003
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) rs367875262 0.00003
NM_001134831.2(AHI1):c.3160C>G (p.Pro1054Ala) rs201691998 0.00003
NM_001134831.2(AHI1):c.3285G>A (p.Lys1095=) rs1016306200 0.00003
NM_001134831.2(AHI1):c.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) rs200250333 0.00003
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00003
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile) rs777420094 0.00003
NM_001134831.2(AHI1):c.*1426A>T rs886061101 0.00002
NM_001134831.2(AHI1):c.*1A>C rs755318468 0.00002
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751 0.00002
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00002
NM_001134831.2(AHI1):c.1859A>G (p.Asn620Ser) rs773892320 0.00002
NM_001134831.2(AHI1):c.1891C>T (p.Arg631Trp) rs748010693 0.00002
NM_001134831.2(AHI1):c.191C>A (p.Pro64His) rs574938408 0.00002
NM_001134831.2(AHI1):c.193G>A (p.Asp65Asn) rs1001283344 0.00002
NM_001134831.2(AHI1):c.194A>C (p.Asp65Ala) rs764230638 0.00002
NM_001134831.2(AHI1):c.214C>A (p.Pro72Thr) rs1173813597 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) rs372012542 0.00002
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs) rs1272037551 0.00002
NM_001134831.2(AHI1):c.2489G>A (p.Arg830Gln) rs775785006 0.00002
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg) rs1387769677 0.00002
NM_001134831.2(AHI1):c.2623+12T>C rs763402338 0.00002
NM_001134831.2(AHI1):c.2813C>T (p.Pro938Leu) rs1170550561 0.00002
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) rs750383545 0.00002
NM_001134831.2(AHI1):c.3101C>T (p.Thr1034Ile) rs1445033875 0.00002
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala) rs1380307778 0.00002
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln) rs372888581 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001134831.2(AHI1):c.575A>G (p.Tyr192Cys) rs374604980 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_001134831.2(AHI1):c.68A>T (p.His23Leu) rs746992537 0.00002
NM_001134831.2(AHI1):c.868G>A (p.Glu290Lys) rs763856608 0.00002
NM_001134831.2(AHI1):c.881A>G (p.Gln294Arg) rs771092146 0.00002
NM_001134831.2(AHI1):c.931+8A>G rs763944345 0.00002
NM_001134831.2(AHI1):c.995C>T (p.Pro332Leu) rs773359044 0.00002
NM_001134831.2(AHI1):c.*110G>A rs370861733 0.00001
NM_001134831.2(AHI1):c.*1327C>T rs371457794 0.00001
NM_001134831.2(AHI1):c.*1646T>C rs886061100 0.00001
NM_001134831.2(AHI1):c.*216G>A rs1781565852 0.00001
NM_001134831.2(AHI1):c.*68C>T rs886061108 0.00001
NM_001134831.2(AHI1):c.-54G>T rs1162660693 0.00001
NM_001134831.2(AHI1):c.1152-19A>G rs2484885417 0.00001
NM_001134831.2(AHI1):c.1152-2A>G rs753085250 0.00001
NM_001134831.2(AHI1):c.1156C>T (p.Arg386Trp) rs183862577 0.00001
NM_001134831.2(AHI1):c.1175A>G (p.Tyr392Cys) rs561883150 0.00001
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro) rs771603649 0.00001
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.1414C>T (p.Arg472Trp) rs969178984 0.00001
NM_001134831.2(AHI1):c.145A>G (p.Ile49Val) rs533707253 0.00001
NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys) rs891261493 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) rs766231229 0.00001
NM_001134831.2(AHI1):c.1626+1G>A rs863225137 0.00001
NM_001134831.2(AHI1):c.1627-6A>G rs886061111 0.00001
NM_001134831.2(AHI1):c.1660C>T (p.Gln554Ter) rs933648254 0.00001
NM_001134831.2(AHI1):c.1683G>A (p.Val561=) rs757056964 0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1779+1G>T rs753655744 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr) rs1303133332 0.00001
NM_001134831.2(AHI1):c.1889del (p.Ser630fs) rs1786487832 0.00001
NM_001134831.2(AHI1):c.190-17A>G rs762843841 0.00001
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507 0.00001
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496 0.00001
NM_001134831.2(AHI1):c.1924C>T (p.Pro642Ser) rs1257057591 0.00001
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys) rs1291908829 0.00001
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val) rs541041911 0.00001
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro) rs1785745572 0.00001
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) rs780154667 0.00001
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867 0.00001
NM_001134831.2(AHI1):c.2037-7T>C rs539801988 0.00001
NM_001134831.2(AHI1):c.2039T>C (p.Ile680Thr) rs761596435 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 0.00001
NM_001134831.2(AHI1):c.2172del (p.Trp725fs) rs755407014 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.2285G>A (p.Gly762Glu) rs1348260638 0.00001
NM_001134831.2(AHI1):c.2295A>G (p.Thr765=) rs1171943827 0.00001
NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu) rs755688765 0.00001
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110 0.00001
NM_001134831.2(AHI1):c.235A>G (p.Ser79Gly) rs1438398673 0.00001
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) rs1362092820 0.00001
NM_001134831.2(AHI1):c.2492+1G>A rs187245292 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 0.00001
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899 0.00001
NM_001134831.2(AHI1):c.2504G>A (p.Arg835Lys) rs767879919 0.00001
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser) rs1380121460 0.00001
NM_001134831.2(AHI1):c.2638A>G (p.Met880Val) rs759069413 0.00001
NM_001134831.2(AHI1):c.266A>G (p.Asn89Ser) rs1374914353 0.00001
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135 0.00001
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp) rs368788993 0.00001
NM_001134831.2(AHI1):c.2718A>G (p.Ala906=) rs765434425 0.00001
NM_001134831.2(AHI1):c.2765-9T>C rs374852342 0.00001
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792 0.00001
NM_001134831.2(AHI1):c.2795G>A (p.Arg932His) rs1301526139 0.00001
NM_001134831.2(AHI1):c.279C>T (p.Ser93=) rs1205189543 0.00001
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093 0.00001
NM_001134831.2(AHI1):c.281C>T (p.Thr94Met) rs373490556 0.00001
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792 0.00001
NM_001134831.2(AHI1):c.2837A>G (p.Gln946Arg) rs1183310371 0.00001
NM_001134831.2(AHI1):c.284G>A (p.Arg95Lys) rs1359290584 0.00001
NM_001134831.2(AHI1):c.2962-13G>A rs927158679 0.00001
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys) rs755780260 0.00001
NM_001134831.2(AHI1):c.3076G>A (p.Glu1026Lys) rs1054804025 0.00001
NM_001134831.2(AHI1):c.3109+6788A>C rs1355798283 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3165+1G>A rs1448108151 0.00001
NM_001134831.2(AHI1):c.3188C>T (p.Thr1063Ile) rs375281757 0.00001
NM_001134831.2(AHI1):c.3197G>A (p.Arg1066Gln) rs544992761 0.00001
NM_001134831.2(AHI1):c.3278T>C (p.Ile1093Thr) rs749649946 0.00001
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=) rs756637497 0.00001
NM_001134831.2(AHI1):c.3296G>T (p.Gly1099Val) rs1207608724 0.00001
NM_001134831.2(AHI1):c.331C>T (p.Pro111Ser) rs776053386 0.00001
NM_001134831.2(AHI1):c.3335A>T (p.Tyr1112Phe) rs762102067 0.00001
NM_001134831.2(AHI1):c.3426+6T>A rs1267329906 0.00001
NM_001134831.2(AHI1):c.3433A>G (p.Ile1145Val) rs766168872 0.00001
NM_001134831.2(AHI1):c.3467G>T (p.Gly1156Val) rs1262204877 0.00001
NM_001134831.2(AHI1):c.3480G>A (p.Met1160Ile) rs952789093 0.00001
NM_001134831.2(AHI1):c.3485+6C>T rs748866983 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.485A>C (p.Gln162Pro) rs770822998 0.00001
NM_001134831.2(AHI1):c.532G>A (p.Glu178Lys) rs1245690441 0.00001
NM_001134831.2(AHI1):c.53A>G (p.Glu18Gly) rs776505818 0.00001
NM_001134831.2(AHI1):c.553G>T (p.Asp185Tyr) rs1032930574 0.00001
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716 0.00001
NM_001134831.2(AHI1):c.727G>A (p.Val243Ile) rs1343456087 0.00001
NM_001134831.2(AHI1):c.824A>G (p.Asp275Gly) rs778231180 0.00001
NM_001134831.2(AHI1):c.877A>G (p.Met293Val) rs772255541 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1568A>T rs969919726
NM_001134831.2(AHI1):c.*246T>C rs1781561968
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.*981C>T rs376956056
NM_001134831.2(AHI1):c.-332C>G rs944668049
NM_001134831.2(AHI1):c.-53A>G rs1461027288
NM_001134831.2(AHI1):c.101del (p.Lys34fs) rs777527386
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter) rs2128081591
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.108dup (p.Leu37fs)
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly) rs863225133
NM_001134831.2(AHI1):c.1133_1134del (p.Tyr378fs)
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_001134831.2(AHI1):c.1152-1G>A rs1344854036
NM_001134831.2(AHI1):c.1210A>G (p.Met404Val) rs1268706810
NM_001134831.2(AHI1):c.1241A>G (p.Lys414Arg)
NM_001134831.2(AHI1):c.1268A>G (p.Gln423Arg) rs1562214357
NM_001134831.2(AHI1):c.1270del (p.Ile424fs) rs1788846426
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) rs761203456
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) rs372919026
NM_001134831.2(AHI1):c.1324A>G (p.Lys442Glu)
NM_001134831.2(AHI1):c.1326del (p.Val443fs) rs1788834778
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.135+1G>C
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer) rs2128071123
NM_001134831.2(AHI1):c.1390G>T (p.Val464Phe)
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001134831.2(AHI1):c.1427G>A (p.Trp476Ter)
NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu) rs2484851979
NM_001134831.2(AHI1):c.1441-14A>G
NM_001134831.2(AHI1):c.1501C>G (p.Pro501Ala)
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=) rs371637724
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1518A>T (p.Arg506=)
NM_001134831.2(AHI1):c.1550G>A (p.Trp517Ter)
NM_001134831.2(AHI1):c.1583C>A (p.Ser528Ter) rs2128058828
NM_001134831.2(AHI1):c.15G>C (p.Glu5Asp)
NM_001134831.2(AHI1):c.1614del (p.Val539fs) rs863225141
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr) rs1787553528
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC rs863225148
NM_001134831.2(AHI1):c.164A>C (p.Tyr55Ser)
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.1667A>G (p.Glu556Gly)
NM_001134831.2(AHI1):c.1681G>C (p.Val561Leu)
NM_001134831.2(AHI1):c.1743_1746del (p.Lys582_Glu583insTer)
NM_001134831.2(AHI1):c.1759T>A (p.Trp587Arg)
NM_001134831.2(AHI1):c.1760G>A (p.Trp587Ter)
NM_001134831.2(AHI1):c.1780-3T>C rs1786509189
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.185A>G (p.Asp62Gly)
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.188_189insC (p.Pro64fs)
NM_001134831.2(AHI1):c.189+18dup
NM_001134831.2(AHI1):c.1897G>A (p.Gly633Arg)
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs) rs863225132
NM_001134831.2(AHI1):c.18T>A (p.Ser6Arg)
NM_001134831.2(AHI1):c.1912+15T>G rs1786478454
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter) rs764412921
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=) rs1785751637
NM_001134831.2(AHI1):c.195_202del (p.Asp65fs) rs1333095977
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn) rs863225145
NM_001134831.2(AHI1):c.2036+1G>T rs776093293
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2037-77G>A rs737561
NM_001134831.2(AHI1):c.2057_2060del (p.Asn686fs) rs2484607393
NM_001134831.2(AHI1):c.2076_2077del (p.Arg692fs)
NM_001134831.2(AHI1):c.207C>A (p.Ser69Arg)
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2122G>A (p.Ala708Thr)
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.2(AHI1):c.216C>T (p.Pro72=) rs1434415693
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) rs863225140
NM_001134831.2(AHI1):c.2194G>C (p.Asp732His) rs200697251
NM_001134831.2(AHI1):c.2213G>A (p.Arg738Gln)
NM_001134831.2(AHI1):c.2233del (p.Ser745fs) rs1784890440
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2266+1G>A rs774144071
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2277G>A (p.Met759Ile)
NM_001134831.2(AHI1):c.2282C>G (p.Ser761Ter) rs794727174
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2283del (p.Gly762fs) rs2484574515
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) rs1049221524
NM_001134831.2(AHI1):c.2320T>C (p.Tyr774His)
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter) rs863225146
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys) rs863225146
NM_001134831.2(AHI1):c.2366T>C (p.Ile789Thr)
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.2405del (p.Pro802fs)
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys) rs958113326
NM_001134831.2(AHI1):c.2440C>T (p.Arg814Cys)
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=) rs1583193331
NM_001134831.2(AHI1):c.2465G>A (p.Ser822Asn)
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2492+5G>A rs2128012406
NM_001134831.2(AHI1):c.2493-2A>G rs886039465
NM_001134831.2(AHI1):c.2493-3T>C
NM_001134831.2(AHI1):c.2493A>G (p.Ile831Met)
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2524A>G (p.Asn842Asp)
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser) rs199736888
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs) rs587783014
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2632G>A (p.Val878Ile) rs2128006042
NM_001134831.2(AHI1):c.265_268dup (p.Leu90fs)
NM_001134831.2(AHI1):c.2665C>G (p.Pro889Ala)
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2675A>G (p.Asp892Gly)
NM_001134831.2(AHI1):c.2684ATC[1] (p.His896del) rs2484506355
NM_001134831.2(AHI1):c.2701A>G (p.Met901Val)
NM_001134831.2(AHI1):c.2714G>A (p.Cys905Tyr)
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del) rs1583179812
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2770del (p.Gln924fs)
NM_001134831.2(AHI1):c.2797T>C (p.Tyr933His)
NM_001134831.2(AHI1):c.2809T>G (p.Phe937Val)
NM_001134831.2(AHI1):c.2912dup (p.Ser971fs)
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3025G>A (p.Val1009Ile)
NM_001134831.2(AHI1):c.3046T>G (p.Leu1016Val)
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001134831.2(AHI1):c.3074_3075del (p.Gln1025fs)
NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter) rs2484034993
NM_001134831.2(AHI1):c.3103C>G (p.Gln1035Glu) rs1401580475
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs) rs1778992944
NM_001134831.2(AHI1):c.3109+14T>A rs1778988078
NM_001134831.2(AHI1):c.3127A>G (p.Arg1043Gly)
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs) rs2483588824
NM_001134831.2(AHI1):c.3166-2A>G
NM_001134831.2(AHI1):c.3211A>T (p.Thr1071Ser)
NM_001134831.2(AHI1):c.3217C>T (p.His1073Tyr) rs374945386
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg) rs750115460
NM_001134831.2(AHI1):c.322del (p.Thr108fs)
NM_001134831.2(AHI1):c.323C>G (p.Thr108Ser)
NM_001134831.2(AHI1):c.3245del (p.Phe1082fs) rs1787147374
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3286G>A (p.Gly1096Arg)
NM_001134831.2(AHI1):c.3328+1G>T
NM_001134831.2(AHI1):c.3328A>C (p.Thr1110Pro)
NM_001134831.2(AHI1):c.3346C>T (p.Pro1116Ser)
NM_001134831.2(AHI1):c.3367T>C (p.Ser1123Pro)
NM_001134831.2(AHI1):c.336T>A (p.Asn112Lys) rs559629609
NM_001134831.2(AHI1):c.3425dup (p.Gln1143fs)
NM_001134831.2(AHI1):c.3431C>G (p.Ser1144Ter) rs982379114
NM_001134831.2(AHI1):c.3474del (p.Glu1158fs) rs916567564
NM_001134831.2(AHI1):c.347G>C (p.Ser116Thr)
NM_001134831.2(AHI1):c.3486-1G>T
NM_001134831.2(AHI1):c.3486-2A>G
NM_001134831.2(AHI1):c.3486-2A>T rs1412515128
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.3499A>C (p.Lys1167Gln)
NM_001134831.2(AHI1):c.3499_3500insTTCT (p.Lys1167fs)
NM_001134831.2(AHI1):c.3572A>G (p.Lys1191Arg)
NM_001134831.2(AHI1):c.406T>C (p.Leu136=) rs1299907778
NM_001134831.2(AHI1):c.407T>G (p.Leu136Trp)
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.44G>A (p.Arg15His) rs760220297
NM_001134831.2(AHI1):c.459A>C (p.Thr153=) rs531024131
NM_001134831.2(AHI1):c.471dup (p.His158fs)
NM_001134831.2(AHI1):c.472C>T (p.His158Tyr) rs1468753761
NM_001134831.2(AHI1):c.478A>T (p.Lys160Ter) rs1257185309
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737
NM_001134831.2(AHI1):c.555T>A (p.Asp185Glu)
NM_001134831.2(AHI1):c.630_633del (p.Lys210fs) rs776569081
NM_001134831.2(AHI1):c.632A>T (p.Lys211Ile)
NM_001134831.2(AHI1):c.647T>C (p.Leu216Ser)
NM_001134831.2(AHI1):c.649A>T (p.Thr217Ser)
NM_001134831.2(AHI1):c.667A>G (p.Thr223Ala)
NM_001134831.2(AHI1):c.693C>G (p.Ser231Arg)
NM_001134831.2(AHI1):c.703dup (p.Arg235fs) rs1336317768
NM_001134831.2(AHI1):c.707A>C (p.Lys236Thr) rs1017983212
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142
NM_001134831.2(AHI1):c.749G>A (p.Ser250Asn)
NM_001134831.2(AHI1):c.750-1G>A rs2484976975
NM_001134831.2(AHI1):c.758C>T (p.Thr253Ile)
NM_001134831.2(AHI1):c.812C>A (p.Ser271Ter)
NM_001134831.2(AHI1):c.856G>A (p.Glu286Lys)
NM_001134831.2(AHI1):c.863G>A (p.Ser288Asn)
NM_001134831.2(AHI1):c.889A>G (p.Thr297Ala) rs1790189960
NM_001134831.2(AHI1):c.901C>G (p.Pro301Ala) rs1161695026
NM_001134831.2(AHI1):c.909_917del (p.Thr304_Lys306del) rs1417477245
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.928G>A (p.Ala310Thr) rs2484971821
NM_001134831.2(AHI1):c.928del (p.Ala310fs)
NM_001134831.2(AHI1):c.932-1G>C
NM_001134831.2(AHI1):c.932-7C>T rs773551361
NM_001134831.2(AHI1):c.980C>T (p.Thr327Ile)
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]

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