ClinVar Miner

List of variants in gene AHI1 reported as uncertain significance for Joubert syndrome

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 516
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.*1404A>G rs149288894 0.00148
NM_001134831.2(AHI1):c.*1288T>C rs886061103 0.00111
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001134831.2(AHI1):c.*1146T>A rs557989991 0.00076
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00030
NM_001134831.2(AHI1):c.*793A>G rs191324834 0.00029
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
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.3223G>A (p.Gly1075Arg) rs750115460 0.00016
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly) rs369869567 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.1454A>G (p.Asn485Ser) rs375425462 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.9A>G (p.Thr3=) rs761022642 0.00013
NM_001134831.2(AHI1):c.2203A>G (p.Ile735Val) rs375643798 0.00012
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704 0.00010
NM_001134831.2(AHI1):c.*447T>A rs886061106 0.00009
NM_001134831.2(AHI1):c.2873A>G (p.Gln958Arg) rs201771478 0.00009
NM_001134831.2(AHI1):c.3588+1G>A rs533296867 0.00009
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581 0.00009
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.10+13T>C rs973391845 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 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.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.853A>G (p.Met285Val) rs200389118 0.00006
NM_001134831.2(AHI1):c.2453A>G (p.His818Arg) rs371891688 0.00005
NM_001134831.2(AHI1):c.493G>A (p.Val165Ile) rs755936005 0.00005
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.2039T>C (p.Ile680Thr) rs761596435 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.2672G>A (p.Arg891Gln) rs200816459 0.00004
NM_001134831.2(AHI1):c.3236G>A (p.Arg1079Gln) rs371242173 0.00004
NM_001134831.2(AHI1):c.3274A>C (p.Ser1092Arg) rs375028507 0.00004
NM_001134831.2(AHI1):c.3373C>T (p.Pro1125Ser) rs1020870112 0.00004
NM_001134831.2(AHI1):c.3478A>G (p.Met1160Val) rs200250333 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001134831.2(AHI1):c.*1684T>C rs75518881 0.00003
NM_001134831.2(AHI1):c.*387T>G rs886061107 0.00003
NM_001134831.2(AHI1):c.*588A>G rs555215397 0.00003
NM_001134831.2(AHI1):c.-347C>T rs1456963108 0.00003
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2294C>T (p.Thr765Ile) rs200017073 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.3329C>T (p.Thr1110Ile) rs891027780 0.00003
NM_001134831.2(AHI1):c.3448T>A (p.Ser1150Thr) rs750439539 0.00003
NM_001134831.2(AHI1):c.*1426A>T rs886061101 0.00002
NM_001134831.2(AHI1):c.1272T>G (p.Ile424Met) rs752889085 0.00002
NM_001134831.2(AHI1):c.1363G>A (p.Val455Met) rs775076049 0.00002
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg) rs539194432 0.00002
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751 0.00002
NM_001134831.2(AHI1):c.1507A>G (p.Thr503Ala) rs946149286 0.00002
NM_001134831.2(AHI1):c.170A>G (p.Lys57Arg) rs762906949 0.00002
NM_001134831.2(AHI1):c.1766G>A (p.Arg589Gln) rs757910826 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.2037-3C>G rs1206317271 0.00002
NM_001134831.2(AHI1):c.214C>A (p.Pro72Thr) rs1173813597 0.00002
NM_001134831.2(AHI1):c.224A>T (p.Lys75Ile) rs747661291 0.00002
NM_001134831.2(AHI1):c.2267G>C (p.Gly756Ala) rs372012542 0.00002
NM_001134831.2(AHI1):c.242A>G (p.Asp81Gly) rs538208208 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.2813C>T (p.Pro938Leu) rs1170550561 0.00002
NM_001134831.2(AHI1):c.2951A>T (p.Glu984Val) rs780642756 0.00002
NM_001134831.2(AHI1):c.3070G>A (p.Ala1024Thr) rs750383545 0.00002
NM_001134831.2(AHI1):c.3108C>T (p.Thr1036=) rs761976492 0.00002
NM_001134831.2(AHI1):c.3245T>G (p.Phe1082Cys) rs763991049 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.3588G>A (p.Glu1196=) rs201791936 0.00002
NM_001134831.2(AHI1):c.652T>C (p.Tyr218His) rs758481039 0.00002
NM_001134831.2(AHI1):c.670T>G (p.Leu224Val) rs767206985 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.995C>T (p.Pro332Leu) rs773359044 0.00002
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.*68C>T rs886061108 0.00001
NM_001134831.2(AHI1):c.*80C>T rs536580823 0.00001
NM_001134831.2(AHI1):c.-54G>T rs1162660693 0.00001
NM_001134831.2(AHI1):c.10+5G>A rs1222293284 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.1189G>A (p.Val397Met) rs1333376430 0.00001
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro) rs771603649 0.00001
NM_001134831.2(AHI1):c.1306G>A (p.Gly436Ser) rs760470566 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.1346T>A (p.Ile449Asn) rs1406446272 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.1468A>G (p.Ile490Val) rs1316545198 0.00001
NM_001134831.2(AHI1):c.1513C>T (p.Pro505Ser) rs1443719410 0.00001
NM_001134831.2(AHI1):c.158T>G (p.Leu53Arg) rs766231229 0.00001
NM_001134831.2(AHI1):c.1607G>A (p.Gly536Glu) rs1389750653 0.00001
NM_001134831.2(AHI1):c.1625G>C (p.Cys542Ser) rs768523364 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.1786C>T (p.Arg596Cys) rs375309864 0.00001
NM_001134831.2(AHI1):c.1787G>A (p.Arg596His) rs373384543 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.1928C>T (p.Ser643Phe) rs761238509 0.00001
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys) rs1291908829 0.00001
NM_001134831.2(AHI1):c.2011A>G (p.Thr671Ala) rs780154667 0.00001
NM_001134831.2(AHI1):c.2084C>T (p.Pro695Leu) rs1784911034 0.00001
NM_001134831.2(AHI1):c.2120C>G (p.Pro707Arg) rs932386191 0.00001
NM_001134831.2(AHI1):c.2125G>A (p.Val709Ile) rs752009063 0.00001
NM_001134831.2(AHI1):c.2129G>A (p.Arg710Lys) rs1352407748 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2237T>C (p.Phe746Ser) rs1403041060 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.2299G>T (p.Val767Leu) rs755688765 0.00001
NM_001134831.2(AHI1):c.2369A>G (p.Asn790Ser) rs1181424358 0.00001
NM_001134831.2(AHI1):c.2431A>G (p.Asn811Asp) rs1362092820 0.00001
NM_001134831.2(AHI1):c.2491A>T (p.Ile831Leu) rs746256168 0.00001
NM_001134831.2(AHI1):c.2492+3A>G rs951268770 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.2580T>A (p.Ala860=) rs1185759126 0.00001
NM_001134831.2(AHI1):c.2623+4A>G rs766458098 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.2671C>G (p.Arg891Gly) rs1355690902 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.2846T>C (p.Leu949Pro) rs756470790 0.00001
NM_001134831.2(AHI1):c.2879C>A (p.Ser960Tyr) rs764830616 0.00001
NM_001134831.2(AHI1):c.2905A>T (p.Thr969Ser) rs1012024407 0.00001
NM_001134831.2(AHI1):c.2906C>G (p.Thr969Ser) rs760411761 0.00001
NM_001134831.2(AHI1):c.2961+5G>A rs1304755953 0.00001
NM_001134831.2(AHI1):c.2962-13G>A rs927158679 0.00001
NM_001134831.2(AHI1):c.3076G>A (p.Glu1026Lys) rs1054804025 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3165+5G>C rs768634892 0.00001
NM_001134831.2(AHI1):c.3173C>T (p.Ala1058Val) rs751040653 0.00001
NM_001134831.2(AHI1):c.3197G>A (p.Arg1066Gln) rs544992761 0.00001
NM_001134831.2(AHI1):c.3271G>A (p.Gly1091Ser) rs750829579 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.3401T>C (p.Ile1134Thr) rs1279871862 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.3480G>A (p.Met1160Ile) rs952789093 0.00001
NM_001134831.2(AHI1):c.3485+6C>T rs748866983 0.00001
NM_001134831.2(AHI1):c.3491A>C (p.Glu1164Ala) rs1232167375 0.00001
NM_001134831.2(AHI1):c.3541C>T (p.Arg1181Trp) rs753932826 0.00001
NM_001134831.2(AHI1):c.3583A>G (p.Ile1195Val) rs776098993 0.00001
NM_001134831.2(AHI1):c.3589-3C>T rs781417999 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001134831.2(AHI1):c.379A>G (p.Lys127Glu) rs912049113 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.824A>G (p.Asp275Gly) rs778231180 0.00001
NM_001134831.2(AHI1):c.848G>A (p.Ser283Asn) rs749890939 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001134831.2(AHI1):c.964G>A (p.Gly322Ser) rs1382955866 0.00001
NC_000006.11:g.(?_135606783)_(135813375_?)dup
NC_000006.11:g.(?_135644280)_(135813375_?)dup
NC_000006.11:g.(?_135679250)_(135813375_?)dup
NC_000006.11:g.(?_135768146)_(135774574_?)del
NC_000006.11:g.(?_135811741)_(135813375_?)dup
NC_000006.12:g.(?_135394776)_(135411544_?)del
NC_000006.12:g.135404974CCT[1]
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1116TAT[1] rs886061104
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1568A>T rs969919726
NM_001134831.2(AHI1):c.*1A>C
NM_001134831.2(AHI1):c.*216G>A rs1781565852
NM_001134831.2(AHI1):c.*246T>C rs1781561968
NM_001134831.2(AHI1):c.*484G>A rs1045439496
NM_001134831.2(AHI1):c.*500_*504del rs886061105
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.1000T>C (p.Tyr334His)
NM_001134831.2(AHI1):c.1003C>A (p.Pro335Thr)
NM_001134831.2(AHI1):c.1008A>T (p.Lys336Asn)
NM_001134831.2(AHI1):c.1018G>C (p.Asp340His)
NM_001134831.2(AHI1):c.1024G>A (p.Asp342Asn) rs2128081643
NM_001134831.2(AHI1):c.1028T>C (p.Leu343Pro)
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.1066A>C (p.Lys356Gln)
NM_001134831.2(AHI1):c.1085C>T (p.Ser362Phe) rs754784786
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1093A>G (p.Met365Val)
NM_001134831.2(AHI1):c.1104T>G (p.Ile368Met)
NM_001134831.2(AHI1):c.1105C>G (p.His369Asp) rs1789169805
NM_001134831.2(AHI1):c.1108G>A (p.Val370Met) rs2128081442
NM_001134831.2(AHI1):c.1111G>A (p.Val371Ile)
NM_001134831.2(AHI1):c.1151+5_1151+6insG rs1562218791
NM_001134831.2(AHI1):c.1196A>G (p.Tyr399Cys) rs1788860785
NM_001134831.2(AHI1):c.1210A>G (p.Met404Val)
NM_001134831.2(AHI1):c.1214C>A (p.Thr405Asn) rs2128077525
NM_001134831.2(AHI1):c.1216C>G (p.Gln406Glu) rs2128077516
NM_001134831.2(AHI1):c.1239A>T (p.Leu413Phe) rs1396631386
NM_001134831.2(AHI1):c.1258T>G (p.Trp420Gly)
NM_001134831.2(AHI1):c.1261G>A (p.Glu421Lys)
NM_001134831.2(AHI1):c.1300C>T (p.Leu434Phe) rs761203456
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1304G>C (p.Arg435Pro)
NM_001134831.2(AHI1):c.1310C>T (p.Ser437Phe) rs372919026
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1330A>G (p.Ile444Val) rs577887220
NM_001134831.2(AHI1):c.1337T>C (p.Phe446Ser) rs773978949
NM_001134831.2(AHI1):c.1337_1338delinsAT (p.Phe446Tyr) rs2128077085
NM_001134831.2(AHI1):c.1344+4T>C
NM_001134831.2(AHI1):c.135+4A>G
NM_001134831.2(AHI1):c.135+9A>G
NM_001134831.2(AHI1):c.1357T>A (p.Leu453Ile)
NM_001134831.2(AHI1):c.137C>G (p.Pro46Arg) rs1210811690
NM_001134831.2(AHI1):c.1400A>G (p.Gln467Arg) rs2128071081
NM_001134831.2(AHI1):c.1406G>T (p.Cys469Phe)
NM_001134831.2(AHI1):c.1423G>A (p.Ala475Thr) rs1416049863
NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)
NM_001134831.2(AHI1):c.1440+3A>G
NM_001134831.2(AHI1):c.1440+5G>A
NM_001134831.2(AHI1):c.1463C>T (p.Ala488Val)
NM_001134831.2(AHI1):c.1471A>C (p.Asn491His) rs2128059224
NM_001134831.2(AHI1):c.1478A>G (p.Lys493Arg)
NM_001134831.2(AHI1):c.1484G>T (p.Arg495Leu)
NM_001134831.2(AHI1):c.1498T>A (p.Tyr500Asn) rs2128059133
NM_001134831.2(AHI1):c.1502C>T (p.Pro501Leu)
NM_001134831.2(AHI1):c.1516C>G (p.Arg506Gly) rs371637724
NM_001134831.2(AHI1):c.1520C>G (p.Ser507Cys)
NM_001134831.2(AHI1):c.152G>A (p.Ser51Asn) rs759236704
NM_001134831.2(AHI1):c.1532TTG[1] (p.Val512del) rs1787565839
NM_001134831.2(AHI1):c.153C>G (p.Ser51Arg) rs1790994808
NM_001134831.2(AHI1):c.155A>G (p.Asn52Ser)
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr) rs1787553528
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1627-9C>A rs1787374682
NM_001134831.2(AHI1):c.1627A>G (p.Ile543Val)
NM_001134831.2(AHI1):c.1643G>T (p.Arg548Leu)
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.1678C>G (p.Pro560Ala) rs1787365319
NM_001134831.2(AHI1):c.167T>C (p.Met56Thr) rs1340420754
NM_001134831.2(AHI1):c.1682T>C (p.Val561Ala) rs2128056468
NM_001134831.2(AHI1):c.1724A>T (p.Glu575Val)
NM_001134831.2(AHI1):c.1735G>A (p.Glu579Lys) rs1787353725
NM_001134831.2(AHI1):c.1780-3T>C rs1786509189
NM_001134831.2(AHI1):c.1796A>G (p.Asn599Ser) rs1429959840
NM_001134831.2(AHI1):c.1813C>A (p.Leu605Ile)
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.1849T>A (p.Phe617Ile) rs769173709
NM_001134831.2(AHI1):c.1858A>G (p.Asn620Asp)
NM_001134831.2(AHI1):c.1867A>G (p.Ile623Val)
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)
NM_001134831.2(AHI1):c.186T>A (p.Asp62Glu)
NM_001134831.2(AHI1):c.1879G>C (p.Ala627Pro)
NM_001134831.2(AHI1):c.1898G>A (p.Gly633Glu) rs2128046191
NM_001134831.2(AHI1):c.1901A>G (p.Tyr634Cys)
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1906A>G (p.Ile636Val)
NM_001134831.2(AHI1):c.1912+15T>G rs1786478454
NM_001134831.2(AHI1):c.1934G>A (p.Arg645His) rs772513002
NM_001134831.2(AHI1):c.1934G>C (p.Arg645Pro) rs772513002
NM_001134831.2(AHI1):c.1939A>T (p.Met647Leu)
NM_001134831.2(AHI1):c.1941G>T (p.Met647Ile)
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=) rs1785751637
NM_001134831.2(AHI1):c.1959C>A (p.His653Gln)
NM_001134831.2(AHI1):c.1964A>G (p.Asn655Ser)
NM_001134831.2(AHI1):c.1975G>T (p.Asp659Tyr) rs1323210459
NM_001134831.2(AHI1):c.1978C>G (p.Leu660Val)
NM_001134831.2(AHI1):c.1987T>C (p.Ser663Pro)
NM_001134831.2(AHI1):c.2003A>G (p.Tyr668Cys) rs1785741670
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.2027G>T (p.Gly676Val)
NM_001134831.2(AHI1):c.2030C>T (p.Thr677Ile) rs758363344
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2037-8T>G
NM_001134831.2(AHI1):c.2080T>C (p.Leu694=)
NM_001134831.2(AHI1):c.2092T>A (p.Ser698Thr) rs2128022901
NM_001134831.2(AHI1):c.2128A>G (p.Arg710Gly)
NM_001134831.2(AHI1):c.2132_2146del (p.Glu711_Thr715del) rs1305959685
NM_001134831.2(AHI1):c.2167C>T (p.Arg723Trp)
NM_001134831.2(AHI1):c.2171T>C (p.Ile724Thr)
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2194G>C (p.Asp732His) rs200697251
NM_001134831.2(AHI1):c.2205A>G (p.Ile735Met) rs956311950
NM_001134831.2(AHI1):c.2209G>A (p.Val737Ile) rs1227775795
NM_001134831.2(AHI1):c.2215C>G (p.Gln739Glu)
NM_001134831.2(AHI1):c.2223_2224inv (p.Val742Ile)
NM_001134831.2(AHI1):c.2230A>G (p.Lys744Glu)
NM_001134831.2(AHI1):c.2240T>G (p.Ile747Ser) rs1784889346
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2261C>T (p.Thr754Ile)
NM_001134831.2(AHI1):c.2266G>C (p.Gly756Arg)
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2270A>T (p.His757Leu) rs2128016998
NM_001134831.2(AHI1):c.2272C>T (p.His758Tyr)
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2290T>G (p.Cys764Gly) rs1029862405
NM_001134831.2(AHI1):c.2291G>A (p.Cys764Tyr) rs1355452076
NM_001134831.2(AHI1):c.229A>G (p.Thr77Ala) rs558131794
NM_001134831.2(AHI1):c.2308G>A (p.Val770Ile) rs1049221524
NM_001134831.2(AHI1):c.2315A>G (p.Asn772Ser) rs2128016790
NM_001134831.2(AHI1):c.2326A>C (p.Lys776Gln) rs778249065
NM_001134831.2(AHI1):c.2335G>A (p.Asp779Asn) rs1583199685
NM_001134831.2(AHI1):c.2350G>C (p.Val784Leu) rs1377937999
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.235A>G (p.Ser79Gly)
NM_001134831.2(AHI1):c.2362A>C (p.Thr788Pro) rs1583199499
NM_001134831.2(AHI1):c.2372A>G (p.Lys791Arg)
NM_001134831.2(AHI1):c.2380A>G (p.Lys794Glu)
NM_001134831.2(AHI1):c.239A>G (p.Asp80Gly) rs1790752699
NM_001134831.2(AHI1):c.2405C>T (p.Pro802Leu)
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys) rs958113326
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=) rs1583193331
NM_001134831.2(AHI1):c.244G>A (p.Val82Ile) rs2128098836
NM_001134831.2(AHI1):c.2451C>G (p.Ile817Met)
NM_001134831.2(AHI1):c.2479A>G (p.Met827Val)
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2484T>A (p.Asp828Glu)
NM_001134831.2(AHI1):c.2500G>T (p.Ala834Ser)
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001134831.2(AHI1):c.2512G>A (p.Val838Ile)
NM_001134831.2(AHI1):c.251C>T (p.Ala84Val) rs1445914255
NM_001134831.2(AHI1):c.2530C>G (p.Arg844Gly) rs773787232
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2567C>T (p.Thr856Ile)
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001134831.2(AHI1):c.2584A>C (p.Ser862Arg) rs2128009310
NM_001134831.2(AHI1):c.2594G>A (p.Gly865Asp)
NM_001134831.2(AHI1):c.260C>G (p.Thr87Ser) rs2128098808
NM_001134831.2(AHI1):c.2614C>A (p.Pro872Thr) rs1784233788
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2623+3G>A rs2128009174
NM_001134831.2(AHI1):c.2623+5A>G
NM_001134831.2(AHI1):c.2623G>A (p.Gly875Arg) rs1784232614
NM_001134831.2(AHI1):c.2632G>A (p.Val878Ile) rs2128006042
NM_001134831.2(AHI1):c.2635G>A (p.Ala879Thr) rs764525761
NM_001134831.2(AHI1):c.2677A>G (p.Ile893Val) rs372710626
NM_001134831.2(AHI1):c.2722G>A (p.Gly908Arg) rs1583179946
NM_001134831.2(AHI1):c.272A>G (p.Lys91Arg)
NM_001134831.2(AHI1):c.2734C>T (p.Pro912Ser)
NM_001134831.2(AHI1):c.2739TCT[1] (p.Leu915del) rs1583179812
NM_001134831.2(AHI1):c.2747A>G (p.Tyr916Cys) rs1583179767
NM_001134831.2(AHI1):c.2755G>A (p.Asp919Asn)
NM_001134831.2(AHI1):c.2756A>G (p.Asp919Gly)
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2764+6T>C
NM_001134831.2(AHI1):c.2767G>A (p.Ala923Thr)
NM_001134831.2(AHI1):c.2768C>T (p.Ala923Val) rs1220794157
NM_001134831.2(AHI1):c.2800A>G (p.Asn934Asp) rs1365944374
NM_001134831.2(AHI1):c.2801A>G (p.Asn934Ser)
NM_001134831.2(AHI1):c.2819C>A (p.Pro940His)
NM_001134831.2(AHI1):c.284G>A (p.Arg95Lys)
NM_001134831.2(AHI1):c.2852C>T (p.Thr951Ile) rs1562703260
NM_001134831.2(AHI1):c.2866C>T (p.Pro956Ser)
NM_001134831.2(AHI1):c.286G>A (p.Val96Ile) rs2128098755
NM_001134831.2(AHI1):c.2891A>G (p.Asp964Gly)
NM_001134831.2(AHI1):c.2902C>T (p.His968Tyr) rs1253336600
NM_001134831.2(AHI1):c.2926A>T (p.Met976Leu) rs770006937
NM_001134831.2(AHI1):c.2961+3A>G rs1444567539
NM_001134831.2(AHI1):c.2962G>A (p.Glu988Lys) rs2128498551
NM_001134831.2(AHI1):c.2965G>T (p.Val989Leu)
NM_001134831.2(AHI1):c.2967G>A (p.Val989=)
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys) rs755780260
NM_001134831.2(AHI1):c.2978G>C (p.Cys993Ser)
NM_001134831.2(AHI1):c.3002T>G (p.Leu1001Arg) rs1347960440
NM_001134831.2(AHI1):c.3039G>C (p.Gln1013His) rs142381345
NM_001134831.2(AHI1):c.3049A>G (p.Lys1017Glu) rs1779002936
NM_001134831.2(AHI1):c.304A>G (p.Arg102Gly)
NM_001134831.2(AHI1):c.3053A>G (p.Gln1018Arg)
NM_001134831.2(AHI1):c.3073C>G (p.Gln1025Glu) rs868723363
NM_001134831.2(AHI1):c.3086A>G (p.His1029Arg)
NM_001134831.2(AHI1):c.3101C>T (p.Thr1034Ile)
NM_001134831.2(AHI1):c.3103C>G (p.Gln1035Glu) rs1401580475
NM_001134831.2(AHI1):c.3106A>G (p.Thr1036Ala) rs1455353901
NM_001134831.2(AHI1):c.3109+14T>A rs1778988078
NM_001134831.2(AHI1):c.3109+3G>T rs2128484977
NM_001134831.2(AHI1):c.3109+5G>A
NM_001134831.2(AHI1):c.3109+6788A>C
NM_001134831.2(AHI1):c.313C>G (p.Gln105Glu)
NM_001134831.2(AHI1):c.314A>G (p.Gln105Arg)
NM_001134831.2(AHI1):c.3158C>T (p.Ala1053Val)
NM_001134831.2(AHI1):c.3165G>A (p.Thr1055=)
NM_001134831.2(AHI1):c.3174_3185dup (p.Leu1059_Tyr1062dup) rs1348711822
NM_001134831.2(AHI1):c.3175C>G (p.Leu1059Val) rs1583719768
NM_001134831.2(AHI1):c.3181G>A (p.Asp1061Asn) rs2128384823
NM_001134831.2(AHI1):c.3187A>G (p.Thr1063Ala)
NM_001134831.2(AHI1):c.3188C>T (p.Thr1063Ile)
NM_001134831.2(AHI1):c.3196C>G (p.Arg1066Gly) rs780163791
NM_001134831.2(AHI1):c.3203A>T (p.Asp1068Val) rs2128384768
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.3231_3233del (p.Ile1078del)
NM_001134831.2(AHI1):c.325G>C (p.Glu109Gln)
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3323G>A (p.Ser1108Asn)
NM_001134831.2(AHI1):c.3329-6T>G rs2128376543
NM_001134831.2(AHI1):c.332C>G (p.Pro111Arg)
NM_001134831.2(AHI1):c.3335A>T (p.Tyr1112Phe)
NM_001134831.2(AHI1):c.3349C>G (p.Pro1117Ala)
NM_001134831.2(AHI1):c.336T>A (p.Asn112Lys)
NM_001134831.2(AHI1):c.3397A>G (p.Lys1133Glu) rs756931330
NM_001134831.2(AHI1):c.3467G>T (p.Gly1156Val)
NM_001134831.2(AHI1):c.3486-3T>C rs1333343554
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.34A>C (p.Thr12Pro) rs761288707
NM_001134831.2(AHI1):c.3546G>C (p.Met1182Ile)
NM_001134831.2(AHI1):c.3577A>G (p.Thr1193Ala)
NM_001134831.2(AHI1):c.3578C>G (p.Thr1193Ser) rs1782196497
NM_001134831.2(AHI1):c.3586G>A (p.Glu1196Lys) rs976929589
NM_001134831.2(AHI1):c.3588+2T>A rs1782194096
NM_001134831.2(AHI1):c.376A>G (p.Asn126Asp)
NM_001134831.2(AHI1):c.385G>T (p.Val129Leu)
NM_001134831.2(AHI1):c.388A>C (p.Ile130Leu) rs376751417
NM_001134831.2(AHI1):c.388A>T (p.Ile130Leu) rs376751417
NM_001134831.2(AHI1):c.390A>G (p.Ile130Met)
NM_001134831.2(AHI1):c.397G>C (p.Val133Leu)
NM_001134831.2(AHI1):c.400C>A (p.Pro134Thr) rs368077581
NM_001134831.2(AHI1):c.412A>G (p.Thr138Ala)
NM_001134831.2(AHI1):c.413C>T (p.Thr138Ile)
NM_001134831.2(AHI1):c.416A>C (p.Gln139Pro) rs1397997127
NM_001134831.2(AHI1):c.416A>G (p.Gln139Arg)
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.433A>G (p.Thr145Ala)
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.443A>C (p.Asn148Thr) rs2128098381
NM_001134831.2(AHI1):c.448G>A (p.Val150Ile) rs1418948476
NM_001134831.2(AHI1):c.44G>A (p.Arg15His) rs760220297
NM_001134831.2(AHI1):c.44G>T (p.Arg15Leu) rs760220297
NM_001134831.2(AHI1):c.452A>T (p.Asp151Val)
NM_001134831.2(AHI1):c.459A>C (p.Thr153=) rs531024131
NM_001134831.2(AHI1):c.463C>G (p.Gln155Glu) rs1790707920
NM_001134831.2(AHI1):c.472C>T (p.His158Tyr) rs1468753761
NM_001134831.2(AHI1):c.482C>G (p.Pro161Arg) rs1562240075
NM_001134831.2(AHI1):c.499C>A (p.His167Asn)
NM_001134831.2(AHI1):c.49G>C (p.Glu17Gln)
NM_001134831.2(AHI1):c.520A>C (p.Asn174His) rs1375935414
NM_001134831.2(AHI1):c.521A>G (p.Asn174Ser) rs1790693034
NM_001134831.2(AHI1):c.523G>A (p.Glu175Lys) rs751749918
NM_001134831.2(AHI1):c.527G>T (p.Gly176Val) rs2128098025
NM_001134831.2(AHI1):c.538A>G (p.Thr180Ala)
NM_001134831.2(AHI1):c.556G>A (p.Glu186Lys)
NM_001134831.2(AHI1):c.562T>A (p.Leu188Met) rs775089247
NM_001134831.2(AHI1):c.575A>G (p.Tyr192Cys)
NM_001134831.2(AHI1):c.590C>A (p.Thr197Asn)
NM_001134831.2(AHI1):c.599T>C (p.Met200Thr) rs1024535791
NM_001134831.2(AHI1):c.617G>A (p.Arg206Lys)
NM_001134831.2(AHI1):c.637A>G (p.Lys213Glu) rs1790673913
NM_001134831.2(AHI1):c.706AAAAAG[1] (p.Lys238_Lys239del) rs778008442
NM_001134831.2(AHI1):c.707A>C (p.Lys236Thr)
NM_001134831.2(AHI1):c.70A>G (p.Ser24Gly) rs28395415
NM_001134831.2(AHI1):c.727G>A (p.Val243Ile)
NM_001134831.2(AHI1):c.750-16_750-15insA
NM_001134831.2(AHI1):c.751A>G (p.Thr251Ala)
NM_001134831.2(AHI1):c.756G>C (p.Leu252Phe) rs1790220318
NM_001134831.2(AHI1):c.760A>G (p.Ile254Val)
NM_001134831.2(AHI1):c.780A>T (p.Glu260Asp)
NM_001134831.2(AHI1):c.7A>T (p.Thr3Ser) rs1380181596
NM_001134831.2(AHI1):c.851C>T (p.Ser284Leu) rs1481234264
NM_001134831.2(AHI1):c.856G>C (p.Glu286Gln)
NM_001134831.2(AHI1):c.872A>C (p.Asp291Ala)
NM_001134831.2(AHI1):c.881A>G (p.Gln294Arg) rs771092146
NM_001134831.2(AHI1):c.884A>G (p.Asp295Gly) rs1368691324
NM_001134831.2(AHI1):c.889A>G (p.Thr297Ala) rs1790189960
NM_001134831.2(AHI1):c.901C>G (p.Pro301Ala)
NM_001134831.2(AHI1):c.909_917del (p.Thr304_Lys306del) rs1417477245
NM_001134831.2(AHI1):c.910A>G (p.Thr304Ala)
NM_001134831.2(AHI1):c.928G>A (p.Ala310Thr)
NM_001134831.2(AHI1):c.931+3_931+4del rs2128092551
NM_001134831.2(AHI1):c.935C>T (p.Ala312Val)
NM_001134831.2(AHI1):c.940A>C (p.Asn314His) rs1789198105
NM_001134831.2(AHI1):c.940A>G (p.Asn314Asp)
NM_001134831.2(AHI1):c.950A>T (p.Asp317Val) rs769064296
NM_001134831.2(AHI1):c.955G>A (p.Asp319Asn)
NM_001134831.2(AHI1):c.959G>C (p.Gly320Ala)
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683
NM_001134831.2(AHI1):c.989A>T (p.Asp330Val) rs200201741
NM_001134831.2(AHI1):c.99_110del (p.30KKKL[1]) rs1192897691
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517

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