ClinVar Miner

List of variants in gene AHI1 studied for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1306
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_001134831.2(AHI1):c.*396_*397dup rs397885237 0.11907
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
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.1152-11T>G rs113317693 0.01324
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_001134831.2(AHI1):c.2961+6_2961+7insGAC rs780835322 0.00980
NM_001134831.2(AHI1):c.2961+9del rs756875846 0.00980
NM_001134831.2(AHI1):c.2962-16A>G rs41287056 0.00707
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.932-10A>G rs114319588 0.00468
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=) rs140280929 0.00451
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_001134831.2(AHI1):c.178A>G (p.Thr60Ala) rs115502075 0.00279
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile) rs184236039 0.00236
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.2490G>A (p.Arg830=) rs368942099 0.00163
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947 0.00159
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558 0.00147
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) rs199879855 0.00144
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001134831.2(AHI1):c.2492+14A>G rs182161546 0.00108
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341 0.00102
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001134831.2(AHI1):c.990T>C (p.Asp330=) rs376654503 0.00052
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.3535G>T (p.Asp1179Tyr) rs188583221 0.00037
NM_001134831.2(AHI1):c.2418G>A (p.Leu806=) rs201235386 0.00035
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp) rs201790260 0.00033
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln) rs374009466 0.00032
NM_001134831.2(AHI1):c.2373+18A>G rs371919793 0.00032
NM_001134831.2(AHI1):c.2831A>G (p.Gln944Arg) rs142704960 0.00032
NM_001134831.2(AHI1):c.3329-7A>G rs370808684 0.00031
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693 0.00031
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790 0.00030
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) rs562905902 0.00029
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669 0.00029
NM_001134831.2(AHI1):c.729C>T (p.Val243=) rs370392354 0.00028
NM_001134831.2(AHI1):c.827C>G (p.Ser276Cys) rs190854744 0.00028
NM_001134831.2(AHI1):c.199A>G (p.Ile67Val) rs369012543 0.00026
NM_001134831.2(AHI1):c.3165+20C>T rs376479301 0.00023
NM_001134831.2(AHI1):c.1893G>A (p.Arg631=) rs376848097 0.00022
NM_001134831.2(AHI1):c.136-8C>T rs370834009 0.00021
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_001134831.2(AHI1):c.2548A>G (p.Thr850Ala) rs779509262 0.00017
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.2706T>C (p.Val902=) rs576859418 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.3588+15A>T rs370223538 0.00015
NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln) rs770605375 0.00014
NM_001134831.2(AHI1):c.189+12T>C rs199617785 0.00014
NM_001134831.2(AHI1):c.2374-8C>T rs553894171 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.2808A>G (p.Thr936=) rs373772212 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.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.1173C>T (p.Tyr391=) rs374015573 0.00011
NM_001134831.2(AHI1):c.135+19G>A rs374973889 0.00011
NM_001134831.2(AHI1):c.136-2A>G rs776579906 0.00011
NM_001134831.2(AHI1):c.1642C>T (p.Arg548Cys) rs553366477 0.00011
NM_001134831.2(AHI1):c.3068C>T (p.Thr1023Ile) rs370340493 0.00011
NM_001134831.2(AHI1):c.395C>T (p.Thr132Met) rs756217962 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.*447T>A rs886061106 0.00009
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.3588+1G>A rs533296867 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.3589-16G>A rs201034412 0.00008
NM_001134831.2(AHI1):c.1593C>T (p.Tyr531=) rs370332260 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.573A>C (p.Ala191=) rs200993978 0.00007
NM_001134831.2(AHI1):c.1131A>G (p.Gln377=) rs142518256 0.00006
NM_001134831.2(AHI1):c.1494A>G (p.Leu498=) rs185249049 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 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.2623+1G>A rs751823180 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.853A>G (p.Met285Val) rs200389118 0.00006
NM_001134831.2(AHI1):c.1566A>G (p.Pro522=) rs765975049 0.00005
NM_001134831.2(AHI1):c.2037-7T>C rs539801988 0.00005
NM_001134831.2(AHI1):c.2374-12T>A rs557341849 0.00005
NM_001134831.2(AHI1):c.2453A>G (p.His818Arg) rs371891688 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001134831.2(AHI1):c.493G>A (p.Val165Ile) rs755936005 0.00005
NM_001134831.2(AHI1):c.1281T>C (p.Asn427=) rs759903519 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.2039T>C (p.Ile680Thr) rs761596435 0.00004
NM_001134831.2(AHI1):c.2374-16T>C rs775777106 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.2634A>G (p.Val878=) rs1036098372 0.00004
NM_001134831.2(AHI1):c.2672G>A (p.Arg891Gln) rs200816459 0.00004
NM_001134831.2(AHI1):c.2920A>G (p.Thr974Ala) rs774471595 0.00004
NM_001134831.2(AHI1):c.3192G>A (p.Ala1064=) rs371494868 0.00004
NM_001134831.2(AHI1):c.3222C>A (p.Arg1074=) rs61755967 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.3329-20A>G rs1004117268 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.396G>A (p.Thr132=) rs752922775 0.00004
NM_001134831.2(AHI1):c.609G>A (p.Glu203=) rs748009598 0.00004
NM_001134831.2(AHI1):c.7A>G (p.Thr3Ala) rs1380181596 0.00004
NM_001134831.2(AHI1):c.83G>A (p.Arg28His) rs36115433 0.00004
NM_001134831.2(AHI1):c.1151+12T>A rs1287645080 0.00003
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362 0.00003
NM_001134831.2(AHI1):c.190-9T>C rs548312029 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.2660A>G (p.Lys887Arg) rs200355875 0.00003
NM_001134831.2(AHI1):c.2761C>T (p.His921Tyr) rs367875262 0.00003
NM_001134831.2(AHI1):c.2922G>A (p.Thr974=) rs369365764 0.00003
NM_001134831.2(AHI1):c.3012T>C (p.Thr1004=) rs1327430611 0.00003
NM_001134831.2(AHI1):c.3109+12T>A rs1229367138 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.3448T>A (p.Ser1150Thr) rs750439539 0.00003
NM_001134831.2(AHI1):c.852A>G (p.Ser284=) rs373466889 0.00003
NM_001134831.2(AHI1):c.931+8A>G rs763944345 0.00003
NM_001134831.2(AHI1):c.932-6G>A rs770083131 0.00003
NM_001134831.2(AHI1):c.1045A>G (p.Ile349Val) rs748804342 0.00002
NM_001134831.2(AHI1):c.108A>G (p.Lys36=) rs755465958 0.00002
NM_001134831.2(AHI1):c.1272T>G (p.Ile424Met) rs752889085 0.00002
NM_001134831.2(AHI1):c.1312dup (p.Asp438fs) rs748438350 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.1425C>G (p.Ala475=) rs749317327 0.00002
NM_001134831.2(AHI1):c.1441-20A>G rs900104028 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.2247dup (p.Leu750fs) rs1445681647 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.2493-12T>C rs753811172 0.00002
NM_001134831.2(AHI1):c.2511T>C (p.Phe837=) rs774900587 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.2743C>T (p.Leu915=) rs201022062 0.00002
NM_001134831.2(AHI1):c.2754C>T (p.Tyr918=) rs371949853 0.00002
NM_001134831.2(AHI1):c.276del (p.Ser93fs) rs765985758 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.3109+8C>T rs760955304 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 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.3364C>T (p.Arg1122Ter) rs1487081231 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.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001134831.2(AHI1):c.652T>C (p.Tyr218His) rs758481039 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 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.996G>A (p.Pro332=) rs765587432 0.00002
NM_001134831.2(AHI1):c.10+5G>A rs1222293284 0.00001
NM_001134831.2(AHI1):c.11-19A>G rs945855139 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.1189G>A (p.Val397Met) rs1333376430 0.00001
NM_001134831.2(AHI1):c.1235dup (p.Leu413fs) rs772289223 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.1306G>A (p.Gly436Ser) rs760470566 0.00001
NM_001134831.2(AHI1):c.1342G>A (p.Glu448Lys) rs777952691 0.00001
NM_001134831.2(AHI1):c.1345-18C>A rs1418817424 0.00001
NM_001134831.2(AHI1):c.1346T>A (p.Ile449Asn) rs1406446272 0.00001
NM_001134831.2(AHI1):c.136-9C>T rs780414647 0.00001
NM_001134831.2(AHI1):c.1362C>T (p.Ser454=) rs760276355 0.00001
NM_001134831.2(AHI1):c.1414C>T (p.Arg472Trp) rs969178984 0.00001
NM_001134831.2(AHI1):c.1452C>A (p.Ala484=) rs758676596 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.1483C>T (p.Arg495Cys) rs891261493 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.1497_1498del (p.Tyr499_Tyr500delinsTer) rs905262279 0.00001
NM_001134831.2(AHI1):c.1513C>T (p.Pro505Ser) rs1443719410 0.00001
NM_001134831.2(AHI1):c.1558A>G (p.Lys520Glu) rs751011125 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.1626+1G>A rs863225137 0.00001
NM_001134831.2(AHI1):c.1683G>A (p.Val561=) rs757056964 0.00001
NM_001134831.2(AHI1):c.1693C>T (p.Arg565Cys) rs763970632 0.00001
NM_001134831.2(AHI1):c.1701T>C (p.His567=) rs1787360423 0.00001
NM_001134831.2(AHI1):c.1719C>T (p.Asp573=) rs886038629 0.00001
NM_001134831.2(AHI1):c.1725A>G (p.Glu575=) rs759747091 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 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.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.186T>C (p.Asp62=) rs1485284078 0.00001
NM_001134831.2(AHI1):c.190-17A>G rs762843841 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.192C>T (p.Pro64=) rs776796882 0.00001
NM_001134831.2(AHI1):c.1932A>G (p.Gly644=) rs1249895131 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.2052A>G (p.Glu684=) rs776429465 0.00001
NM_001134831.2(AHI1):c.2084C>T (p.Pro695Leu) rs1784911034 0.00001
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met) rs756276537 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.2172A>G (p.Ile724Met) rs547837278 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.2266+9G>A rs762842225 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.2267-19A>T rs971512231 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.2374-9T>A rs1434974004 0.00001
NM_001134831.2(AHI1):c.2388T>G (p.Thr796=) rs1242947963 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+19T>C rs1406778075 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.2580T>A (p.Ala860=) rs1185759126 0.00001
NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu) rs1217172210 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.2687A>G (p.His896Arg) rs863225135 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.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.2988+6T>C rs751303913 0.00001
NM_001134831.2(AHI1):c.2989-7A>G rs957458736 0.00001
NM_001134831.2(AHI1):c.3076G>A (p.Glu1026Lys) rs1054804025 0.00001
NM_001134831.2(AHI1):c.3110-13T>C rs751738538 0.00001
NM_001134831.2(AHI1):c.3110-15G>A rs755282785 0.00001
NM_001134831.2(AHI1):c.3157G>A (p.Ala1053Thr) rs1261277645 0.00001
NM_001134831.2(AHI1):c.3159A>T (p.Ala1053=) rs143485622 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.3328+14T>C rs41287052 0.00001
NM_001134831.2(AHI1):c.3328+17C>G rs756947602 0.00001
NM_001134831.2(AHI1):c.3330A>G (p.Thr1110=) rs773514922 0.00001
NM_001134831.2(AHI1):c.3381C>T (p.Ser1127=) rs375647379 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.3498A>G (p.Arg1166=) rs746858024 0.00001
NM_001134831.2(AHI1):c.3541C>T (p.Arg1181Trp) rs753932826 0.00001
NM_001134831.2(AHI1):c.3564A>G (p.Ala1188=) rs759877397 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.420C>T (p.Asp140=) rs1790716581 0.00001
NM_001134831.2(AHI1):c.456T>C (p.Ser152=) rs1488249011 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 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.636G>A (p.Leu212=) rs1790674290 0.00001
NM_001134831.2(AHI1):c.645G>A (p.Gln215=) rs1211023912 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.873C>T (p.Asp291=) rs1050617914 0.00001
NM_001134831.2(AHI1):c.878T>C (p.Met293Thr) rs759553258 0.00001
NM_001134831.2(AHI1):c.960T>C (p.Gly320=) rs756756153 0.00001
NM_001134831.2(AHI1):c.964G>A (p.Gly322Ser) rs1382955866 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NC_000006.11:g.(?_135606783)_(135813375_?)dup
NC_000006.11:g.(?_135639637)_(135639774_?)del
NC_000006.11:g.(?_135644280)_(135813375_?)dup
NC_000006.11:g.(?_135679250)_(135679345_?)dup
NC_000006.11:g.(?_135679250)_(135754414_?)del
NC_000006.11:g.(?_135679250)_(135788792_?)del
NC_000006.11:g.(?_135679250)_(135813375_?)dup
NC_000006.11:g.(?_135748285)_(135763872_?)del
NC_000006.11:g.(?_135748388)_(135757374_?)del
NC_000006.11:g.(?_135749747)_(135784464_?)del
NC_000006.11:g.(?_135749761)_(135784450_?)del
NC_000006.11:g.(?_135751000)_(135754414_?)del
NC_000006.11:g.(?_135759493)_(135759656_?)del
NC_000006.11:g.(?_135768146)_(135774574_?)del
NC_000006.11:g.(?_135769428)_(135769613_?)del
NC_000006.11:g.(?_135772926)_(135778775_?)del
NC_000006.11:g.(?_135811741)_(135813375_?)dup
NC_000006.12:g.(?_135358112)_(135358207_?)del
NC_000006.12:g.(?_135394756)_(135411564_?)del
NC_000006.12:g.(?_135394776)_(135411544_?)del
NC_000006.12:g.(?_135429882)_(135433256_?)del
NC_000006.12:g.135358181_135358190del
NC_000006.12:g.135404974CCT[1]
NM_001134831.2(AHI1):c.*1051ATTT[1] rs144339517
NM_001134831.2(AHI1):c.*1116TAT[1] rs886061104
NM_001134831.2(AHI1):c.*500_*504del rs886061105
NM_001134831.2(AHI1):c.10+10C>T
NM_001134831.2(AHI1):c.10+14G>A
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.1011T>C (p.Cys337=)
NM_001134831.2(AHI1):c.1012T>C (p.Leu338=)
NM_001134831.2(AHI1):c.1018G>C (p.Asp340His)
NM_001134831.2(AHI1):c.101del (p.Lys34fs)
NM_001134831.2(AHI1):c.1023T>C (p.Asp341=) rs993439588
NM_001134831.2(AHI1):c.1024G>A (p.Asp342Asn) rs2128081643
NM_001134831.2(AHI1):c.1026C>T (p.Asp342=)
NM_001134831.2(AHI1):c.1028T>C (p.Leu343Pro)
NM_001134831.2(AHI1):c.1029T>C (p.Leu343=)
NM_001134831.2(AHI1):c.102del (p.Lys36fs)
NM_001134831.2(AHI1):c.1034T>A (p.Leu345Ter)
NM_001134831.2(AHI1):c.1051C>A (p.Arg351=) rs121434348
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.1056T>C (p.Thr352=)
NM_001134831.2(AHI1):c.1057_1064del (p.Thr352_Asp353insTer)
NM_001134831.2(AHI1):c.1064_1065del (p.Leu355fs)
NM_001134831.2(AHI1):c.1065T>C (p.Leu355=)
NM_001134831.2(AHI1):c.1066A>C (p.Lys356Gln)
NM_001134831.2(AHI1):c.1069del (p.Ser357fs)
NM_001134831.2(AHI1):c.1085C>T (p.Ser362Phe) rs754784786
NM_001134831.2(AHI1):c.1091C>T (p.Pro364Leu)
NM_001134831.2(AHI1):c.1093A>G (p.Met365Val)
NM_001134831.2(AHI1):c.11-12T>C rs2128134488
NM_001134831.2(AHI1):c.11-13G>A
NM_001134831.2(AHI1):c.11-1G>C
NM_001134831.2(AHI1):c.11-5T>C
NM_001134831.2(AHI1):c.11-6T>C
NM_001134831.2(AHI1):c.11-9C>A rs779186190
NM_001134831.2(AHI1):c.11-9C>G rs779186190
NM_001134831.2(AHI1):c.11-9C>T
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.1119del (p.Glu373fs)
NM_001134831.2(AHI1):c.1125T>A (p.Thr375=)
NM_001134831.2(AHI1):c.1151+12del
NM_001134831.2(AHI1):c.1151+12dup
NM_001134831.2(AHI1):c.1151+16T>C
NM_001134831.2(AHI1):c.1151+19A>G
NM_001134831.2(AHI1):c.1151+1G>A rs2128081334
NM_001134831.2(AHI1):c.1151+1del
NM_001134831.2(AHI1):c.1151+20_1151+21del
NM_001134831.2(AHI1):c.1151+5_1151+6insG rs1562218791
NM_001134831.2(AHI1):c.1152-18G>T
NM_001134831.2(AHI1):c.1152-19A>G
NM_001134831.2(AHI1):c.1152-1G>A
NM_001134831.2(AHI1):c.1152-4A>G
NM_001134831.2(AHI1):c.1152-5T>C
NM_001134831.2(AHI1):c.1152-7dup rs773371042
NM_001134831.2(AHI1):c.1152-8_1152-7del
NM_001134831.2(AHI1):c.1156C>A (p.Arg386=)
NM_001134831.2(AHI1):c.1158G>A (p.Arg386=)
NM_001134831.2(AHI1):c.1165del (p.Ser389fs)
NM_001134831.2(AHI1):c.1166C>G (p.Ser389Ter) rs761388040
NM_001134831.2(AHI1):c.1167A>G (p.Ser389=)
NM_001134831.2(AHI1):c.1171del (p.Tyr391fs)
NM_001134831.2(AHI1):c.1179A>G (p.Glu393=)
NM_001134831.2(AHI1):c.1185G>A (p.Glu395=)
NM_001134831.2(AHI1):c.1196A>G (p.Tyr399Cys) rs1788860785
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1210A>G (p.Met404Val)
NM_001134831.2(AHI1):c.1214C>A (p.Thr405Asn) rs2128077525
NM_001134831.2(AHI1):c.1215C>G (p.Thr405=)
NM_001134831.2(AHI1):c.1216C>G (p.Gln406Glu) rs2128077516
NM_001134831.2(AHI1):c.1230del (p.Phe410fs)
NM_001134831.2(AHI1):c.1236G>A (p.Gln412=)
NM_001134831.2(AHI1):c.1239A>T (p.Leu413Phe) rs1396631386
NM_001134831.2(AHI1):c.1242del (p.Lys414fs) rs1165489547
NM_001134831.2(AHI1):c.1252C>T (p.Pro418Ser)
NM_001134831.2(AHI1):c.1254A>G (p.Pro418=)
NM_001134831.2(AHI1):c.1255G>T (p.Glu419Ter)
NM_001134831.2(AHI1):c.1258T>G (p.Trp420Gly)
NM_001134831.2(AHI1):c.1259G>A (p.Trp420Ter)
NM_001134831.2(AHI1):c.1261G>A (p.Glu421Lys)
NM_001134831.2(AHI1):c.1293C>G (p.Pro431=)
NM_001134831.2(AHI1):c.1297T>C (p.Leu433=)
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.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.1317G>A (p.Glu439=)
NM_001134831.2(AHI1):c.1326A>G (p.Lys442=) rs2128077134
NM_001134831.2(AHI1):c.1329C>A (p.Val443=)
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.1338C>T (p.Phe446=)
NM_001134831.2(AHI1):c.1344+10G>A
NM_001134831.2(AHI1):c.1344+10G>C
NM_001134831.2(AHI1):c.1344+15G>C
NM_001134831.2(AHI1):c.1344+17_1344+54del
NM_001134831.2(AHI1):c.1344+4T>C
NM_001134831.2(AHI1):c.1344+8T>A
NM_001134831.2(AHI1):c.1345-11T>A
NM_001134831.2(AHI1):c.135+10T>C
NM_001134831.2(AHI1):c.135+12A>C
NM_001134831.2(AHI1):c.135+15A>G
NM_001134831.2(AHI1):c.135+16T>C
NM_001134831.2(AHI1):c.135+4A>G
NM_001134831.2(AHI1):c.135+9A>G
NM_001134831.2(AHI1):c.1355del (p.Phe452fs) rs1554208431
NM_001134831.2(AHI1):c.1357T>A (p.Leu453Ile)
NM_001134831.2(AHI1):c.136-12C>G
NM_001134831.2(AHI1):c.136-16A>G
NM_001134831.2(AHI1):c.136-17_136-15del
NM_001134831.2(AHI1):c.136-19del
NM_001134831.2(AHI1):c.136-1G>A rs2128100946
NM_001134831.2(AHI1):c.136-20_136-15del
NM_001134831.2(AHI1):c.136-4T>G
NM_001134831.2(AHI1):c.1365G>A (p.Val455=)
NM_001134831.2(AHI1):c.137C>G (p.Pro46Arg) rs1210811690
NM_001134831.2(AHI1):c.1398C>T (p.Asn466=)
NM_001134831.2(AHI1):c.1400A>G (p.Gln467Arg) rs2128071081
NM_001134831.2(AHI1):c.1406G>T (p.Cys469Phe)
NM_001134831.2(AHI1):c.1414C>A (p.Arg472=)
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001134831.2(AHI1):c.1423G>A (p.Ala475Thr) rs1416049863
NM_001134831.2(AHI1):c.1425C>T (p.Ala475=)
NM_001134831.2(AHI1):c.1440+16A>G
NM_001134831.2(AHI1):c.1440+17T>A
NM_001134831.2(AHI1):c.1440+17T>C
NM_001134831.2(AHI1):c.1440+3A>G
NM_001134831.2(AHI1):c.1440+5G>A
NM_001134831.2(AHI1):c.1441-15A>C
NM_001134831.2(AHI1):c.1441-18A>G
NM_001134831.2(AHI1):c.1441-7T>C rs1787586295
NM_001134831.2(AHI1):c.1443T>C (p.Leu481=)
NM_001134831.2(AHI1):c.1452C>G (p.Ala484=)
NM_001134831.2(AHI1):c.1455T>C (p.Asn485=) rs765844068
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.1488G>A (p.Leu496=)
NM_001134831.2(AHI1):c.1491G>A (p.Gln497=)
NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro) rs2128059170
NM_001134831.2(AHI1):c.1498T>A (p.Tyr500Asn) rs2128059133
NM_001134831.2(AHI1):c.1500C>G (p.Tyr500Ter)
NM_001134831.2(AHI1):c.1500C>T (p.Tyr500=)
NM_001134831.2(AHI1):c.1502C>T (p.Pro501Leu)
NM_001134831.2(AHI1):c.1503A>G (p.Pro501=)
NM_001134831.2(AHI1):c.1512G>A (p.Lys504=)
NM_001134831.2(AHI1):c.1516C>A (p.Arg506=) rs371637724
NM_001134831.2(AHI1):c.1516C>G (p.Arg506Gly) rs371637724
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1518A>G (p.Arg506=) rs1460484266
NM_001134831.2(AHI1):c.1520C>G (p.Ser507Cys)
NM_001134831.2(AHI1):c.1524A>G (p.Pro508=) rs368162800
NM_001134831.2(AHI1):c.1524A>T (p.Pro508=)
NM_001134831.2(AHI1):c.1526T>A (p.Leu509Ter)
NM_001134831.2(AHI1):c.1527A>G (p.Leu509=) rs2128058989
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.1553G>A (p.Trp518Ter)
NM_001134831.2(AHI1):c.155A>G (p.Asn52Ser)
NM_001134831.2(AHI1):c.156T>C (p.Asn52=)
NM_001134831.2(AHI1):c.1574_1588del (p.His525_Thr529del)
NM_001134831.2(AHI1):c.1580C>T (p.Pro527Leu)
NM_001134831.2(AHI1):c.1581A>G (p.Pro527=)
NM_001134831.2(AHI1):c.1583C>A (p.Ser528Ter) rs2128058828
NM_001134831.2(AHI1):c.1597_1621del25 (p.Val534_Arg535insTer)
NM_001134831.2(AHI1):c.1608A>G (p.Gly536=)
NM_001134831.2(AHI1):c.1623del (p.Cys542fs)
NM_001134831.2(AHI1):c.1627-9C>A rs1787374682
NM_001134831.2(AHI1):c.1627A>G (p.Ile543Val)
NM_001134831.2(AHI1):c.1641C>T (p.Tyr547=)
NM_001134831.2(AHI1):c.1643G>T (p.Arg548Leu)
NM_001134831.2(AHI1):c.1644C>G (p.Arg548=) rs2128056589
NM_001134831.2(AHI1):c.164A>G (p.Tyr55Cys) rs971565169
NM_001134831.2(AHI1):c.165T>C (p.Tyr55=)
NM_001134831.2(AHI1):c.1660C>T (p.Gln554Ter)
NM_001134831.2(AHI1):c.166_167del (p.Met56fs) rs2128100863
NM_001134831.2(AHI1):c.1674T>G (p.Gly558=) rs750069868
NM_001134831.2(AHI1):c.1677dup (p.Pro560fs) rs1554350503
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.1686T>C (p.His562=)
NM_001134831.2(AHI1):c.1710C>T (p.Ser570=)
NM_001134831.2(AHI1):c.1724A>T (p.Glu575Val)
NM_001134831.2(AHI1):c.1735G>A (p.Glu579Lys) rs1787353725
NM_001134831.2(AHI1):c.1755A>C (p.Ile585=)
NM_001134831.2(AHI1):c.1764A>G (p.Lys588=)
NM_001134831.2(AHI1):c.1777C>T (p.Gln593Ter)
NM_001134831.2(AHI1):c.1779+10T>C
NM_001134831.2(AHI1):c.1779+11T>C
NM_001134831.2(AHI1):c.1779+12G>A rs2128056072
NM_001134831.2(AHI1):c.1779+16A>G
NM_001134831.2(AHI1):c.1779+1G>A
NM_001134831.2(AHI1):c.1779+1G>T
NM_001134831.2(AHI1):c.1779+20_1779+32del
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His) rs1583276758
NM_001134831.2(AHI1):c.177T>C (p.Thr59=)
NM_001134831.2(AHI1):c.1780-11A>G
NM_001134831.2(AHI1):c.1780-13G>A
NM_001134831.2(AHI1):c.1780-3T>C rs1786509189
NM_001134831.2(AHI1):c.1780-8T>C
NM_001134831.2(AHI1):c.1780-9G>A
NM_001134831.2(AHI1):c.1796A>G (p.Asn599Ser) rs1429959840
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1811C>G (p.Ser604Ter) rs781198326
NM_001134831.2(AHI1):c.1813C>A (p.Leu605Ile)
NM_001134831.2(AHI1):c.1818T>C (p.Asn606=)
NM_001134831.2(AHI1):c.1824A>C (p.Gly608=)
NM_001134831.2(AHI1):c.1827A>G (p.Glu609=)
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1849T>A (p.Phe617Ile) rs769173709
NM_001134831.2(AHI1):c.1858A>G (p.Asn620Asp)
NM_001134831.2(AHI1):c.1860T>C (p.Asn620=)
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1867A>G (p.Ile623Val)
NM_001134831.2(AHI1):c.186T>A (p.Asp62Glu)
NM_001134831.2(AHI1):c.1875A>G (p.Ala625=)
NM_001134831.2(AHI1):c.1878A>G (p.Ala626=)
NM_001134831.2(AHI1):c.1879G>C (p.Ala627Pro)
NM_001134831.2(AHI1):c.1889del (p.Ser630fs) rs1786487832
NM_001134831.2(AHI1):c.189+11C>T
NM_001134831.2(AHI1):c.189+13A>G
NM_001134831.2(AHI1):c.189+15C>A
NM_001134831.2(AHI1):c.189+15C>T
NM_001134831.2(AHI1):c.189+16A>G
NM_001134831.2(AHI1):c.189+17C>G
NM_001134831.2(AHI1):c.189+18T>C
NM_001134831.2(AHI1):c.189+20A>C
NM_001134831.2(AHI1):c.189+7A>G
NM_001134831.2(AHI1):c.189+8C>T
NM_001134831.2(AHI1):c.1893G>T (p.Arg631=)
NM_001134831.2(AHI1):c.1898G>A (p.Gly633Glu) rs2128046191
NM_001134831.2(AHI1):c.1899A>T (p.Gly633=)
NM_001134831.2(AHI1):c.190-12T>G
NM_001134831.2(AHI1):c.190-18_190-16del
NM_001134831.2(AHI1):c.190-19T>A
NM_001134831.2(AHI1):c.190-5C>T
NM_001134831.2(AHI1):c.190-6T>G
NM_001134831.2(AHI1):c.190-7T>C
NM_001134831.2(AHI1):c.1900dup (p.Tyr634fs) rs2128046176
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+10A>C rs750402394
NM_001134831.2(AHI1):c.1912+17C>G
NM_001134831.2(AHI1):c.1912+18C>A
NM_001134831.2(AHI1):c.1912+19T>A
NM_001134831.2(AHI1):c.1912+19dup rs756965683
NM_001134831.2(AHI1):c.1912+20G>A
NM_001134831.2(AHI1):c.1912+7A>G
NM_001134831.2(AHI1):c.1912+8A>T rs2128046089
NM_001134831.2(AHI1):c.1913-14A>C
NM_001134831.2(AHI1):c.1913-18_1913-17insTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA
NM_001134831.2(AHI1):c.1913-19_1913-18insTGATAGCAGTGATGATTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA rs2128038204
NM_001134831.2(AHI1):c.1913-1G>A
NM_001134831.2(AHI1):c.1913-20_1913-19insGATTTGAGTTACAAAAGCCTCCAGATTTGCTGTGTAGTGGTATACCATCTTTCATTTGATCAATCTCA
NM_001134831.2(AHI1):c.1913-4T>A
NM_001134831.2(AHI1):c.1913-5A>G
NM_001134831.2(AHI1):c.1913-8T>C
NM_001134831.2(AHI1):c.1914A>G (p.Leu638=)
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.1950G>A (p.Leu650=)
NM_001134831.2(AHI1):c.1959C>A (p.His653Gln)
NM_001134831.2(AHI1):c.1959C>T (p.His653=)
NM_001134831.2(AHI1):c.195_202del (p.Asp65fs)
NM_001134831.2(AHI1):c.1964A>G (p.Asn655Ser)
NM_001134831.2(AHI1):c.1968C>T (p.Ile656=)
NM_001134831.2(AHI1):c.1975G>T (p.Asp659Tyr) rs1323210459
NM_001134831.2(AHI1):c.1978C>G (p.Leu660Val)
NM_001134831.2(AHI1):c.1983del (p.Trp662fs) rs1459452503
NM_001134831.2(AHI1):c.1987T>C (p.Ser663Pro)
NM_001134831.2(AHI1):c.1989A>G (p.Ser663=)
NM_001134831.2(AHI1):c.2001C>T (p.His667=)
NM_001134831.2(AHI1):c.2003A>G (p.Tyr668Cys) rs1785741670
NM_001134831.2(AHI1):c.2004C>T (p.Tyr668=)
NM_001134831.2(AHI1):c.2005A>G (p.Ile669Val) rs371198770
NM_001134831.2(AHI1):c.2007C>T (p.Ile669=)
NM_001134831.2(AHI1):c.2010T>C (p.Leu670=)
NM_001134831.2(AHI1):c.2010del (p.Thr671fs)
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) rs772989270
NM_001134831.2(AHI1):c.2016A>G (p.Ser672=)
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+13G>C
NM_001134831.2(AHI1):c.2036+15G>A
NM_001134831.2(AHI1):c.2036+20A>G rs757547033
NM_001134831.2(AHI1):c.2036+20A>T rs757547033
NM_001134831.2(AHI1):c.2036+6T>G rs2128037867
NM_001134831.2(AHI1):c.2036+9C>A
NM_001134831.2(AHI1):c.2037-10C>A rs1483842780
NM_001134831.2(AHI1):c.2037-10C>T
NM_001134831.2(AHI1):c.2037-14T>C
NM_001134831.2(AHI1):c.2037-15C>G
NM_001134831.2(AHI1):c.2037-8T>G
NM_001134831.2(AHI1):c.2042G>A (p.Trp681Ter)
NM_001134831.2(AHI1):c.2057_2060del (p.Asn686fs)
NM_001134831.2(AHI1):c.2067T>C (p.Asn689=)
NM_001134831.2(AHI1):c.2072del (p.Phe691fs)
NM_001134831.2(AHI1):c.2076_2077del (p.Arg692fs)
NM_001134831.2(AHI1):c.2080T>C (p.Leu694=)
NM_001134831.2(AHI1):c.2081T>G (p.Leu694Ter)
NM_001134831.2(AHI1):c.2092T>A (p.Ser698Thr) rs2128022901
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2106G>A (p.Thr702=) rs1276908141
NM_001134831.2(AHI1):c.2112A>G (p.Lys704=)
NM_001134831.2(AHI1):c.2115C>T (p.Phe705=)
NM_001134831.2(AHI1):c.2121A>G (p.Pro707=)
NM_001134831.2(AHI1):c.2123C>T (p.Ala708Val)
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.2136A>G (p.Leu712=)
NM_001134831.2(AHI1):c.2142T>C (p.Val714=)
NM_001134831.2(AHI1):c.2145A>G (p.Thr715=)
NM_001134831.2(AHI1):c.2145A>T (p.Thr715=) rs767255013
NM_001134831.2(AHI1):c.2148A>G (p.Gly716=) rs2128022727
NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)
NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)
NM_001134831.2(AHI1):c.2167C>T (p.Arg723Trp)
NM_001134831.2(AHI1):c.2169G>A (p.Arg723=)
NM_001134831.2(AHI1):c.2169G>T (p.Arg723=) rs2128022641
NM_001134831.2(AHI1):c.216C>T (p.Pro72=)
NM_001134831.2(AHI1):c.2171T>C (p.Ile724Thr)
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2178A>G (p.Lys726=)
NM_001134831.2(AHI1):c.2181T>A (p.Val727=)
NM_001134831.2(AHI1):c.2186_2190del (p.Met729fs)
NM_001134831.2(AHI1):c.2194G>C (p.Asp732His) rs200697251
NM_001134831.2(AHI1):c.219T>C (p.His73=)
NM_001134831.2(AHI1):c.21A>G (p.Glu7=)
NM_001134831.2(AHI1):c.2205A>G (p.Ile735Met) rs956311950
NM_001134831.2(AHI1):c.2206T>C (p.Leu736=)
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.2226T>G (p.Val742=)
NM_001134831.2(AHI1):c.222T>C (p.Ile74=) rs375875794
NM_001134831.2(AHI1):c.2230A>G (p.Lys744Glu)
NM_001134831.2(AHI1):c.2233del (p.Ser745fs) rs1784890440
NM_001134831.2(AHI1):c.2240T>G (p.Ile747Ser) rs1784889346
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter) rs766069291
NM_001134831.2(AHI1):c.2247A>C (p.Ser749=)
NM_001134831.2(AHI1):c.2250_2251del (p.Cys751fs) rs1784887448
NM_001134831.2(AHI1):c.2253T>C (p.Cys751=)
NM_001134831.2(AHI1):c.225A>G (p.Lys75=)
NM_001134831.2(AHI1):c.2260A>G (p.Thr754Ala) rs752392677
NM_001134831.2(AHI1):c.2261C>T (p.Thr754Ile)
NM_001134831.2(AHI1):c.2262T>C (p.Thr754=)
NM_001134831.2(AHI1):c.2266+10A>T
NM_001134831.2(AHI1):c.2266+14T>A
NM_001134831.2(AHI1):c.2266+15A>G
NM_001134831.2(AHI1):c.2266+7C>T
NM_001134831.2(AHI1):c.2266+9_2266+18del
NM_001134831.2(AHI1):c.2266G>C (p.Gly756Arg)
NM_001134831.2(AHI1):c.2267-11T>G
NM_001134831.2(AHI1):c.2267-12T>G
NM_001134831.2(AHI1):c.2267-13dup rs2128017037
NM_001134831.2(AHI1):c.2267-14A>C rs1342603314
NM_001134831.2(AHI1):c.2267-14A>G
NM_001134831.2(AHI1):c.2267-16T>G
NM_001134831.2(AHI1):c.2267-19dup
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>G (p.Ser761Ter)
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2283A>G (p.Ser761=)
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.2295A>G (p.Thr765=)
NM_001134831.2(AHI1):c.2295del (p.Gly766_Val767insTer)
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2298G>A (p.Gly766=)
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.2315_2318del (p.Asn772fs) rs1784617227
NM_001134831.2(AHI1):c.2319C>T (p.Thr773=)
NM_001134831.2(AHI1):c.2322T>C (p.Tyr774=)
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.2340G>A (p.Leu780=)
NM_001134831.2(AHI1):c.234A>C (p.Thr78=)
NM_001134831.2(AHI1):c.2350G>C (p.Val784Leu) rs1377937999
NM_001134831.2(AHI1):c.2355C>T (p.His785=)
NM_001134831.2(AHI1):c.235A>G (p.Ser79Gly)
NM_001134831.2(AHI1):c.2362A>C (p.Thr788Pro) rs1583199499
NM_001134831.2(AHI1):c.2369_2372del (p.Asn790fs) rs1562753388
NM_001134831.2(AHI1):c.2372A>G (p.Lys791Arg)
NM_001134831.2(AHI1):c.2373+10C>A rs2128016462
NM_001134831.2(AHI1):c.2373+11A>G
NM_001134831.2(AHI1):c.2373+12T>C
NM_001134831.2(AHI1):c.2373+13A>G
NM_001134831.2(AHI1):c.2373+14T>C
NM_001134831.2(AHI1):c.2373+19T>C
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.2374-12dup
NM_001134831.2(AHI1):c.2374-18T>G
NM_001134831.2(AHI1):c.2374-20A>G
NM_001134831.2(AHI1):c.2374-20A>T
NM_001134831.2(AHI1):c.2374-28GTA[2]
NM_001134831.2(AHI1):c.2374-7del
NM_001134831.2(AHI1):c.2380A>G (p.Lys794Glu)
NM_001134831.2(AHI1):c.2383_2386del (p.Glu795fs)
NM_001134831.2(AHI1):c.2388dup (p.Glu797Ter)
NM_001134831.2(AHI1):c.2391G>A (p.Glu797=)
NM_001134831.2(AHI1):c.2397G>A (p.Lys799=) rs747639578
NM_001134831.2(AHI1):c.239A>G (p.Asp80Gly) rs1790752699
NM_001134831.2(AHI1):c.2405C>T (p.Pro802Leu)
NM_001134831.2(AHI1):c.2421G>A (p.Glu807=) rs864622356
NM_001134831.2(AHI1):c.2430C>G (p.Pro810=) rs765954155
NM_001134831.2(AHI1):c.244G>A (p.Val82Ile) rs2128098836
NM_001134831.2(AHI1):c.2451C>G (p.Ile817Met)
NM_001134831.2(AHI1):c.2457C>T (p.Thr819=)
NM_001134831.2(AHI1):c.2466T>C (p.Ser822=)
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.2492+15G>C
NM_001134831.2(AHI1):c.2492+1G>A rs187245292
NM_001134831.2(AHI1):c.2492+20G>A
NM_001134831.2(AHI1):c.2492+20G>C
NM_001134831.2(AHI1):c.2493-15C>A
NM_001134831.2(AHI1):c.2493-1G>T
NM_001134831.2(AHI1):c.2493-5T>C
NM_001134831.2(AHI1):c.2493-9dup
NM_001134831.2(AHI1):c.2495del (p.Ile831_Leu832insTer) rs1410559569
NM_001134831.2(AHI1):c.2500G>T (p.Ala834Ser)
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val) rs529407899
NM_001134831.2(AHI1):c.2502A>G (p.Ala834=)
NM_001134831.2(AHI1):c.2512G>A (p.Val838Ile)
NM_001134831.2(AHI1):c.2514A>G (p.Val838=)
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.2544T>C (p.His848=)
NM_001134831.2(AHI1):c.2547T>C (p.Ser849=)
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser) rs2128009440
NM_001134831.2(AHI1):c.2552dup (p.Leu851fs)
NM_001134831.2(AHI1):c.2559A>G (p.Pro853=)
NM_001134831.2(AHI1):c.255T>C (p.Ala85=)
NM_001134831.2(AHI1):c.2565G>A (p.Gly855=)
NM_001134831.2(AHI1):c.2565G>T (p.Gly855=)
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser) rs199736888
NM_001134831.2(AHI1):c.2567C>T (p.Thr856Ile)
NM_001134831.2(AHI1):c.2572C>T (p.Leu858=)
NM_001134831.2(AHI1):c.2574G>A (p.Leu858=)
NM_001134831.2(AHI1):c.2580T>C (p.Ala860=)
NM_001134831.2(AHI1):c.2584A>C (p.Ser862Arg) rs2128009310
NM_001134831.2(AHI1):c.2594G>A (p.Gly865Asp)
NM_001134831.2(AHI1):c.2598A>C (p.Ile866=) rs1448795637
NM_001134831.2(AHI1):c.259A>T (p.Thr87Ser)
NM_001134831.2(AHI1):c.2601G>A (p.Val867=)
NM_001134831.2(AHI1):c.2604T>C (p.Tyr868=)
NM_001134831.2(AHI1):c.2607T>C (p.Val869=)
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.2616A>G (p.Pro872=)
NM_001134831.2(AHI1):c.261T>C (p.Thr87=)
NM_001134831.2(AHI1):c.2620A>G (p.Thr874Ala) rs376705634
NM_001134831.2(AHI1):c.2623+10dup rs760987188
NM_001134831.2(AHI1):c.2623+11A>G
NM_001134831.2(AHI1):c.2623+16A>G
NM_001134831.2(AHI1):c.2623+17C>T
NM_001134831.2(AHI1):c.2623+18T>A rs2128009104
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2623+2T>A rs2128009190
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.2624-13T>A
NM_001134831.2(AHI1):c.2624-13T>C
NM_001134831.2(AHI1):c.2624-14C>A
NM_001134831.2(AHI1):c.2624-16C>T
NM_001134831.2(AHI1):c.2624-16CT[2]
NM_001134831.2(AHI1):c.2624-17T>A rs1784050213
NM_001134831.2(AHI1):c.2624-18A>G
NM_001134831.2(AHI1):c.2624-2A>G
NM_001134831.2(AHI1):c.2624-4T>C
NM_001134831.2(AHI1):c.2624-8_2624-7del
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.2637C>A (p.Ala879=) rs1308009765
NM_001134831.2(AHI1):c.2637C>T (p.Ala879=)
NM_001134831.2(AHI1):c.2649C>T (p.Asp883=)
NM_001134831.2(AHI1):c.2664A>G (p.Ser888=) rs1296818217
NM_001134831.2(AHI1):c.2665C>T (p.Pro889Ser)
NM_001134831.2(AHI1):c.2671C>A (p.Arg891=)
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2677A>G (p.Ile893Val) rs372710626
NM_001134831.2(AHI1):c.2684ATC[1] (p.His896del)
NM_001134831.2(AHI1):c.2703_2707dup (p.Ala903fs)
NM_001134831.2(AHI1):c.2706T>G (p.Val902=)
NM_001134831.2(AHI1):c.2718A>C (p.Ala906=)
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.2742del (p.Leu915fs) rs1583179845
NM_001134831.2(AHI1):c.2745G>T (p.Leu915=)
NM_001134831.2(AHI1):c.2747A>G (p.Tyr916Cys) rs1583179767
NM_001134831.2(AHI1):c.2748T>G (p.Tyr916Ter)
NM_001134831.2(AHI1):c.2755G>A (p.Asp919Asn)
NM_001134831.2(AHI1):c.2756A>G (p.Asp919Gly)
NM_001134831.2(AHI1):c.2760_2764+2del
NM_001134831.2(AHI1):c.2764+11del
NM_001134831.2(AHI1):c.2764+13_2764+24del
NM_001134831.2(AHI1):c.2764+16G>A
NM_001134831.2(AHI1):c.2764+16G>T
NM_001134831.2(AHI1):c.2764+17A>C
NM_001134831.2(AHI1):c.2764+18T>A rs2128005584
NM_001134831.2(AHI1):c.2764+20A>G
NM_001134831.2(AHI1):c.2764+2T>C
NM_001134831.2(AHI1):c.2764+6T>C
NM_001134831.2(AHI1):c.2764+8_2764+10del rs768295818
NM_001134831.2(AHI1):c.2765-10A>G
NM_001134831.2(AHI1):c.2765-13T>C
NM_001134831.2(AHI1):c.2765-17T>G
NM_001134831.2(AHI1):c.2765-18A>G
NM_001134831.2(AHI1):c.2765-19T>C
NM_001134831.2(AHI1):c.2765-20T>G
NM_001134831.2(AHI1):c.2765-7T>G rs558638679
NM_001134831.2(AHI1):c.2765-8T>G
NM_001134831.2(AHI1):c.2767G>A (p.Ala923Thr)
NM_001134831.2(AHI1):c.2768C>T (p.Ala923Val) rs1220794157
NM_001134831.2(AHI1):c.2771A>G (p.Gln924Arg)
NM_001134831.2(AHI1):c.2773C>T (p.Gln925Ter)
NM_001134831.2(AHI1):c.2775G>A (p.Gln925=)
NM_001134831.2(AHI1):c.2781T>C (p.Ala927=)
NM_001134831.2(AHI1):c.2800A>G (p.Asn934Asp) rs1365944374
NM_001134831.2(AHI1):c.2801A>G (p.Asn934Ser)
NM_001134831.2(AHI1):c.2802T>C (p.Asn934=)
NM_001134831.2(AHI1):c.2805A>C (p.Gly935=)
NM_001134831.2(AHI1):c.2805A>G (p.Gly935=)
NM_001134831.2(AHI1):c.2819C>A (p.Pro940His)
NM_001134831.2(AHI1):c.283A>C (p.Arg95=)
NM_001134831.2(AHI1):c.2844C>G (p.Ala948=)
NM_001134831.2(AHI1):c.2844C>T (p.Ala948=)
NM_001134831.2(AHI1):c.2847A>G (p.Leu949=)
NM_001134831.2(AHI1):c.284G>A (p.Arg95Lys)
NM_001134831.2(AHI1):c.2852C>T (p.Thr951Ile) rs1562703260
NM_001134831.2(AHI1):c.2859A>G (p.Pro953=)
NM_001134831.2(AHI1):c.285A>G (p.Arg95=) rs2128098757
NM_001134831.2(AHI1):c.2862A>G (p.Lys954=) rs2127974180
NM_001134831.2(AHI1):c.2865A>G (p.Leu955=)
NM_001134831.2(AHI1):c.2866C>T (p.Pro956Ser)
NM_001134831.2(AHI1):c.2868C>G (p.Pro956=)
NM_001134831.2(AHI1):c.286G>A (p.Val96Ile) rs2128098755
NM_001134831.2(AHI1):c.2884C>T (p.Gln962Ter)
NM_001134831.2(AHI1):c.288C>A (p.Val96=) rs2128098750
NM_001134831.2(AHI1):c.2891A>G (p.Asp964Gly)
NM_001134831.2(AHI1):c.2895A>G (p.Glu965=)
NM_001134831.2(AHI1):c.2901C>T (p.Val967=)
NM_001134831.2(AHI1):c.2902C>T (p.His968Tyr) rs1253336600
NM_001134831.2(AHI1):c.2912_2919dup (p.Thr974fs) rs1781571282
NM_001134831.2(AHI1):c.2921C>T (p.Thr974Met) rs373303895
NM_001134831.2(AHI1):c.2926A>T (p.Met976Leu) rs770006937
NM_001134831.2(AHI1):c.2929C>T (p.Gln977Ter)
NM_001134831.2(AHI1):c.2934A>G (p.Leu978=)
NM_001134831.2(AHI1):c.2961+14A>T rs200731111
NM_001134831.2(AHI1):c.2961+16G>A rs199671265
NM_001134831.2(AHI1):c.2961+17C>A rs201291897
NM_001134831.2(AHI1):c.2961+17C>T rs201291897
NM_001134831.2(AHI1):c.2961+19G>A
NM_001134831.2(AHI1):c.2961+1G>A
NM_001134831.2(AHI1):c.2961+2T>G rs2127973751
NM_001134831.2(AHI1):c.2961+3A>G rs1444567539
NM_001134831.2(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA rs878855030
NM_001134831.2(AHI1):c.2961+7T>G rs200658320
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.2961+7_2961+9delinsGAC rs2127973697
NM_001134831.2(AHI1):c.2961+8T>A rs199887601
NM_001134831.2(AHI1):c.2961+9A>C rs201870233
NM_001134831.2(AHI1):c.2961+9A>T rs201870233
NM_001134831.2(AHI1):c.2962-11A>G
NM_001134831.2(AHI1):c.2962-15_2962-12del
NM_001134831.2(AHI1):c.2962-16A>T
NM_001134831.2(AHI1):c.2962-18T>G
NM_001134831.2(AHI1):c.2962G>A (p.Glu988Lys) rs2128498551
NM_001134831.2(AHI1):c.2964G>A (p.Glu988=) rs1356996626
NM_001134831.2(AHI1):c.2965G>T (p.Val989Leu)
NM_001134831.2(AHI1):c.2967G>A (p.Val989=)
NM_001134831.2(AHI1):c.2970dup (p.Arg991fs) rs1780545912
NM_001134831.2(AHI1):c.2978G>C (p.Cys993Ser)
NM_001134831.2(AHI1):c.297C>T (p.Asn99=)
NM_001134831.2(AHI1):c.2988+14A>G rs1780540353
NM_001134831.2(AHI1):c.2988+20A>G
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.2989-11del rs397775233
NM_001134831.2(AHI1):c.2989-15G>C
NM_001134831.2(AHI1):c.2989-1G>A
NM_001134831.2(AHI1):c.2989-2A>G rs2128485171
NM_001134831.2(AHI1):c.2989-2A>T
NM_001134831.2(AHI1):c.2989-8T>C
NM_001134831.2(AHI1):c.3002T>G (p.Leu1001Arg) rs1347960440
NM_001134831.2(AHI1):c.3014C>G (p.Ser1005Ter)
NM_001134831.2(AHI1):c.3024A>T (p.Ala1008=)
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.3055_3056del (p.Ser1019fs)
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001134831.2(AHI1):c.3065dup (p.Thr1023fs)
NM_001134831.2(AHI1):c.3069C>G (p.Thr1023=)
NM_001134831.2(AHI1):c.3069C>T (p.Thr1023=)
NM_001134831.2(AHI1):c.3073C>G (p.Gln1025Glu) rs868723363
NM_001134831.2(AHI1):c.3075A>G (p.Gln1025=)
NM_001134831.2(AHI1):c.307_308insTAAATTGAGGA (p.Asn103delinsIleAsnTer)
NM_001134831.2(AHI1):c.3081T>C (p.Ile1027=)
NM_001134831.2(AHI1):c.3084A>G (p.Leu1028=)
NM_001134831.2(AHI1):c.3086A>G (p.His1029Arg)
NM_001134831.2(AHI1):c.3088C>T (p.Gln1030Ter)
NM_001134831.2(AHI1):c.308del (p.Asn103fs)
NM_001134831.2(AHI1):c.309C>T (p.Asn103=)
NM_001134831.2(AHI1):c.3101C>T (p.Thr1034Ile)
NM_001134831.2(AHI1):c.3103C>G (p.Gln1035Glu) rs1401580475
NM_001134831.2(AHI1):c.3105G>A (p.Gln1035=)
NM_001134831.2(AHI1):c.3106A>G (p.Thr1036Ala) rs1455353901
NM_001134831.2(AHI1):c.3109+17C>G
NM_001134831.2(AHI1):c.3109+19T>C
NM_001134831.2(AHI1):c.3109+19T>G
NM_001134831.2(AHI1):c.3109+3G>T rs2128484977
NM_001134831.2(AHI1):c.3109+5G>A
NM_001134831.2(AHI1):c.3109+7C>T
NM_001134831.2(AHI1):c.3109+8C>A
NM_001134831.2(AHI1):c.3109+9del
NM_001134831.2(AHI1):c.3110-10C>A
NM_001134831.2(AHI1):c.3110-10C>G
NM_001134831.2(AHI1):c.3110-1G>A
NM_001134831.2(AHI1):c.3110-20dup
NM_001134831.2(AHI1):c.3110-22_3110-19del rs71725890
NM_001134831.2(AHI1):c.3110-2A>G
NM_001134831.2(AHI1):c.3110-4A>G
NM_001134831.2(AHI1):c.3110-6C>T
NM_001134831.2(AHI1):c.3110-9T>C
NM_001134831.2(AHI1):c.3111G>C (p.Gly1037=)
NM_001134831.2(AHI1):c.3111G>T (p.Gly1037=)
NM_001134831.2(AHI1):c.3126A>G (p.Glu1042=)
NM_001134831.2(AHI1):c.312A>G (p.Thr104=)
NM_001134831.2(AHI1):c.3138_3141dup (p.His1048Ter)
NM_001134831.2(AHI1):c.313C>G (p.Gln105Glu)
NM_001134831.2(AHI1):c.313_314del (p.Gln105fs)
NM_001134831.2(AHI1):c.314A>G (p.Gln105Arg)
NM_001134831.2(AHI1):c.3156A>G (p.Thr1052=)
NM_001134831.2(AHI1):c.3158C>T (p.Ala1053Val)
NM_001134831.2(AHI1):c.3165+9G>A
NM_001134831.2(AHI1):c.3165G>A (p.Thr1055=)
NM_001134831.2(AHI1):c.3166-1G>T
NM_001134831.2(AHI1):c.3171_3174del (p.Ala1058fs)
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.3180T>A (p.Tyr1060Ter)
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.3191C>T (p.Ala1064Val)
NM_001134831.2(AHI1):c.3196C>A (p.Arg1066=) rs780163791
NM_001134831.2(AHI1):c.3196C>G (p.Arg1066Gly) rs780163791
NM_001134831.2(AHI1):c.3200C>G (p.Ser1067Ter) rs2128384779
NM_001134831.2(AHI1):c.3201A>C (p.Ser1067=)
NM_001134831.2(AHI1):c.3203A>T (p.Asp1068Val) rs2128384768
NM_001134831.2(AHI1):c.3208C>T (p.Leu1070=)
NM_001134831.2(AHI1):c.3217C>T (p.His1073Tyr) rs374945386
NM_001134831.2(AHI1):c.3222C>T (p.Arg1074=)
NM_001134831.2(AHI1):c.3229_3235dup (p.Arg1079fs) rs1787150198
NM_001134831.2(AHI1):c.3231_3233del (p.Ile1078del)
NM_001134831.2(AHI1):c.3237A>G (p.Arg1079=)
NM_001134831.2(AHI1):c.3245del (p.Phe1082fs)
NM_001134831.2(AHI1):c.3252T>C (p.Asp1084=) rs2128384644
NM_001134831.2(AHI1):c.325G>C (p.Glu109Gln)
NM_001134831.2(AHI1):c.3289C>T (p.Gln1097Ter)
NM_001134831.2(AHI1):c.329dup (p.Asn110fs)
NM_001134831.2(AHI1):c.3303dup (p.Pro1102fs) rs2128384496
NM_001134831.2(AHI1):c.3313del (p.His1105fs)
NM_001134831.2(AHI1):c.3315T>C (p.His1105=)
NM_001134831.2(AHI1):c.3323G>A (p.Ser1108Asn)
NM_001134831.2(AHI1):c.3328+11T>C rs2128384460
NM_001134831.2(AHI1):c.3328+12G>A
NM_001134831.2(AHI1):c.3328+13C>T
NM_001134831.2(AHI1):c.3328+15C>G
NM_001134831.2(AHI1):c.3328+15C>T
NM_001134831.2(AHI1):c.3328+8T>G
NM_001134831.2(AHI1):c.3329-12T>C rs2128376571
NM_001134831.2(AHI1):c.3329-17C>T
NM_001134831.2(AHI1):c.3329-6T>G rs2128376543
NM_001134831.2(AHI1):c.3329-7A>C
NM_001134831.2(AHI1):c.3329-8A>G
NM_001134831.2(AHI1):c.3329-9C>T
NM_001134831.2(AHI1):c.332C>G (p.Pro111Arg)
NM_001134831.2(AHI1):c.3330A>C (p.Thr1110=)
NM_001134831.2(AHI1):c.3335A>T (p.Tyr1112Phe)
NM_001134831.2(AHI1):c.3339A>G (p.Gln1113=)
NM_001134831.2(AHI1):c.3345G>T (p.Leu1115=)
NM_001134831.2(AHI1):c.3349C>G (p.Pro1117Ala)
NM_001134831.2(AHI1):c.3351T>G (p.Pro1117=)
NM_001134831.2(AHI1):c.3363G>A (p.Glu1121=)
NM_001134831.2(AHI1):c.3365dup (p.Ser1123fs)
NM_001134831.2(AHI1):c.336T>A (p.Asn112Lys)
NM_001134831.2(AHI1):c.336T>C (p.Asn112=)
NM_001134831.2(AHI1):c.3384T>C (p.Pro1128=)
NM_001134831.2(AHI1):c.3394_3400del (p.Lys1131_Thr1132insTer)
NM_001134831.2(AHI1):c.3397A>G (p.Lys1133Glu) rs756931330
NM_001134831.2(AHI1):c.339T>C (p.Gly113=)
NM_001134831.2(AHI1):c.3421C>T (p.Gln1141Ter)
NM_001134831.2(AHI1):c.3426+11T>C
NM_001134831.2(AHI1):c.3426+12T>C rs1786313203
NM_001134831.2(AHI1):c.3426+18T>C
NM_001134831.2(AHI1):c.3426+1G>A
NM_001134831.2(AHI1):c.3426+20C>A
NM_001134831.2(AHI1):c.3426+20C>T
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.3427-14C>T
NM_001134831.2(AHI1):c.3427-1G>A
NM_001134831.2(AHI1):c.3427-6C>T
NM_001134831.2(AHI1):c.3427-8T>G
NM_001134831.2(AHI1):c.3427-8_3427-6del rs559510247
NM_001134831.2(AHI1):c.3431C>G (p.Ser1144Ter)
NM_001134831.2(AHI1):c.3431C>T (p.Ser1144Leu)
NM_001134831.2(AHI1):c.3432A>G (p.Ser1144=)
NM_001134831.2(AHI1):c.3438_3439insC (p.Lys1147fs)
NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg)
NM_001134831.2(AHI1):c.344_384dup (p.Val129delinsLeuValTer)
NM_001134831.2(AHI1):c.3450C>T (p.Ser1150=)
NM_001134831.2(AHI1):c.3453G>A (p.Gln1151=)
NM_001134831.2(AHI1):c.3456C>T (p.Asp1152=)
NM_001134831.2(AHI1):c.3467G>T (p.Gly1156Val)
NM_001134831.2(AHI1):c.3471A>C (p.Ser1157=)
NM_001134831.2(AHI1):c.3474del (p.Glu1158fs)
NM_001134831.2(AHI1):c.3485+13_3485+15del rs540849894
NM_001134831.2(AHI1):c.3485+16A>G rs2128350907
NM_001134831.2(AHI1):c.3485+17A>G
NM_001134831.2(AHI1):c.3485+18A>G
NM_001134831.2(AHI1):c.3485+8A>G
NM_001134831.2(AHI1):c.3486-10C>T
NM_001134831.2(AHI1):c.3486-11C>T
NM_001134831.2(AHI1):c.3486-15C>A
NM_001134831.2(AHI1):c.3486-2A>T
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.3501del (p.Glu1168fs)
NM_001134831.2(AHI1):c.3504A>G (p.Glu1168=) rs973295818
NM_001134831.2(AHI1):c.3510C>T (p.Ser1170=)
NM_001134831.2(AHI1):c.3543G>A (p.Arg1181=) rs1782201495
NM_001134831.2(AHI1):c.3546G>C (p.Met1182Ile)
NM_001134831.2(AHI1):c.3567C>G (p.Gly1189=)
NM_001134831.2(AHI1):c.3568A>C (p.Arg1190=)
NM_001134831.2(AHI1):c.3577A>G (p.Thr1193Ala)
NM_001134831.2(AHI1):c.3578C>G (p.Thr1193Ser) rs1782196497
NM_001134831.2(AHI1):c.3582A>G (p.Leu1194=) rs1337536400
NM_001134831.2(AHI1):c.3586G>A (p.Glu1196Lys) rs976929589
NM_001134831.2(AHI1):c.3588+11A>C
NM_001134831.2(AHI1):c.3588+16A>G
NM_001134831.2(AHI1):c.3588+17T>C
NM_001134831.2(AHI1):c.3588+18A>T
NM_001134831.2(AHI1):c.3588+2T>A rs1782194096
NM_001134831.2(AHI1):c.3588+9A>G
NM_001134831.2(AHI1):c.3589-11T>C
NM_001134831.2(AHI1):c.3589-14A>G
NM_001134831.2(AHI1):c.3589-14A>T
NM_001134831.2(AHI1):c.3589-5dup rs763223260
NM_001134831.2(AHI1):c.372G>A (p.Lys124=)
NM_001134831.2(AHI1):c.376A>G (p.Asn126Asp)
NM_001134831.2(AHI1):c.381A>G (p.Lys127=)
NM_001134831.2(AHI1):c.383dup (p.Val129fs)
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>C (p.Ile130=)
NM_001134831.2(AHI1):c.390A>G (p.Ile130Met)
NM_001134831.2(AHI1):c.392dup (p.Thr132fs)
NM_001134831.2(AHI1):c.397G>C (p.Val133Leu)
NM_001134831.2(AHI1):c.400C>A (p.Pro134Thr) rs368077581
NM_001134831.2(AHI1):c.404del (p.Gln135fs)
NM_001134831.2(AHI1):c.412A>G (p.Thr138Ala)
NM_001134831.2(AHI1):c.413C>T (p.Thr138Ile)
NM_001134831.2(AHI1):c.414A>G (p.Thr138=)
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>G (p.Pro143Arg) rs192524061
NM_001134831.2(AHI1):c.428C>T (p.Pro143Leu) rs192524061
NM_001134831.2(AHI1):c.429G>A (p.Pro143=)
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.433A>G (p.Thr145Ala)
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys) rs766052712
NM_001134831.2(AHI1):c.441G>A (p.Glu147=)
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.456T>G (p.Ser152=) rs1488249011
NM_001134831.2(AHI1):c.459A>C (p.Thr153=) rs531024131
NM_001134831.2(AHI1):c.45C>G (p.Arg15=)
NM_001134831.2(AHI1):c.462C>T (p.His154=)
NM_001134831.2(AHI1):c.463C>G (p.Gln155Glu) rs1790707920
NM_001134831.2(AHI1):c.471A>G (p.Thr157=)
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.482C>G (p.Pro161Arg) rs1562240075
NM_001134831.2(AHI1):c.486G>A (p.Gln162=) rs2128098201
NM_001134831.2(AHI1):c.492C>T (p.Gly164=)
NM_001134831.2(AHI1):c.499C>A (p.His167Asn)
NM_001134831.2(AHI1):c.49G>C (p.Glu17Gln)
NM_001134831.2(AHI1):c.51A>G (p.Glu17=)
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.523G>T (p.Glu175Ter)
NM_001134831.2(AHI1):c.527G>T (p.Gly176Val) rs2128098025
NM_001134831.2(AHI1):c.538A>G (p.Thr180Ala)
NM_001134831.2(AHI1):c.54A>G (p.Glu18=)
NM_001134831.2(AHI1):c.556G>A (p.Glu186Lys)
NM_001134831.2(AHI1):c.55T>C (p.Leu19=)
NM_001134831.2(AHI1):c.562T>A (p.Leu188Met) rs775089247
NM_001134831.2(AHI1):c.573A>G (p.Ala191=)
NM_001134831.2(AHI1):c.573A>T (p.Ala191=) rs200993978
NM_001134831.2(AHI1):c.575A>G (p.Tyr192Cys)
NM_001134831.2(AHI1):c.576T>A (p.Tyr192Ter)
NM_001134831.2(AHI1):c.57G>A (p.Leu19=)
NM_001134831.2(AHI1):c.582C>T (p.Cys194=)
NM_001134831.2(AHI1):c.590C>A (p.Thr197Asn)
NM_001134831.2(AHI1):c.599T>C (p.Met200Thr) rs1024535791
NM_001134831.2(AHI1):c.606G>A (p.Lys202=)
NM_001134831.2(AHI1):c.617G>A (p.Arg206Lys)
NM_001134831.2(AHI1):c.624A>T (p.Ile208=)
NM_001134831.2(AHI1):c.630_633del (p.Lys210fs) rs776569081
NM_001134831.2(AHI1):c.637A>G (p.Lys213Glu) rs1790673913
NM_001134831.2(AHI1):c.63G>A (p.Lys21=) rs2128134408
NM_001134831.2(AHI1):c.643C>T (p.Gln215Ter)
NM_001134831.2(AHI1):c.660C>T (p.Pro220=)
NM_001134831.2(AHI1):c.663A>G (p.Ser221=)
NM_001134831.2(AHI1):c.681T>C (p.Asp227=)
NM_001134831.2(AHI1):c.684C>T (p.Asp228=)
NM_001134831.2(AHI1):c.699A>G (p.Glu233=)
NM_001134831.2(AHI1):c.703dup (p.Arg235fs) rs1336317768
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.712A>G (p.Lys238Glu) rs748182443
NM_001134831.2(AHI1):c.727G>A (p.Val243Ile)
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.738A>G (p.Lys246=)
NM_001134831.2(AHI1):c.744A>G (p.Glu248=) rs543954264
NM_001134831.2(AHI1):c.749+10C>T
NM_001134831.2(AHI1):c.749+11A>C rs779376033
NM_001134831.2(AHI1):c.749+12T>C rs1236154279
NM_001134831.2(AHI1):c.749+13T>A
NM_001134831.2(AHI1):c.749+15A>G
NM_001134831.2(AHI1):c.749+16T>C
NM_001134831.2(AHI1):c.749+17A>T rs943581343
NM_001134831.2(AHI1):c.749+1G>C rs780069818
NM_001134831.2(AHI1):c.750-10A>G
NM_001134831.2(AHI1):c.750-16T>C
NM_001134831.2(AHI1):c.750-16_750-15insA
NM_001134831.2(AHI1):c.750-18C>T
NM_001134831.2(AHI1):c.750-19A>G
NM_001134831.2(AHI1):c.750-19dup
NM_001134831.2(AHI1):c.750-1G>A
NM_001134831.2(AHI1):c.750-2A>G
NM_001134831.2(AHI1):c.750-6T>C
NM_001134831.2(AHI1):c.751A>G (p.Thr251Ala)
NM_001134831.2(AHI1):c.753A>G (p.Thr251=)
NM_001134831.2(AHI1):c.756G>A (p.Leu252=)
NM_001134831.2(AHI1):c.756G>C (p.Leu252Phe) rs1790220318
NM_001134831.2(AHI1):c.760A>G (p.Ile254Val)
NM_001134831.2(AHI1):c.765T>G (p.Ser255=)
NM_001134831.2(AHI1):c.780A>T (p.Glu260Asp)
NM_001134831.2(AHI1):c.7A>T (p.Thr3Ser) rs1380181596
NM_001134831.2(AHI1):c.804A>G (p.Ser268=)
NM_001134831.2(AHI1):c.813A>G (p.Ser271=)
NM_001134831.2(AHI1):c.836del (p.Asp279fs) rs1554214237
NM_001134831.2(AHI1):c.849C>T (p.Ser283=)
NM_001134831.2(AHI1):c.851C>T (p.Ser284Leu) rs1481234264
NM_001134831.2(AHI1):c.856G>C (p.Glu286Gln)
NM_001134831.2(AHI1):c.856G>T (p.Glu286Ter)
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.885T>C (p.Asp295=)
NM_001134831.2(AHI1):c.888T>C (p.Asp296=)
NM_001134831.2(AHI1):c.889A>G (p.Thr297Ala) rs1790189960
NM_001134831.2(AHI1):c.891A>G (p.Thr297=)
NM_001134831.2(AHI1):c.894del (p.Lys298fs)
NM_001134831.2(AHI1):c.900del (p.Lys300fs) rs2128092639
NM_001134831.2(AHI1):c.901C>G (p.Pro301Ala)
NM_001134831.2(AHI1):c.903A>T (p.Pro301=)
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.910del (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.914_917del (p.Lys305fs)
NM_001134831.2(AHI1):c.917dup (p.Lys307fs)
NM_001134831.2(AHI1):c.928G>A (p.Ala310Thr)
NM_001134831.2(AHI1):c.931+12A>G
NM_001134831.2(AHI1):c.931+14A>G
NM_001134831.2(AHI1):c.931+3_931+4del rs2128092551
NM_001134831.2(AHI1):c.931+8A>C
NM_001134831.2(AHI1):c.932-12C>A
NM_001134831.2(AHI1):c.932-13del rs753114452
NM_001134831.2(AHI1):c.932-15T>C
NM_001134831.2(AHI1):c.932-21dup rs753114452
NM_001134831.2(AHI1):c.932-2_932del
NM_001134831.2(AHI1):c.932-7C>T
NM_001134831.2(AHI1):c.935C>T (p.Ala312Val)
NM_001134831.2(AHI1):c.93A>G (p.Lys31=)
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.951T>C (p.Asp317=)
NM_001134831.2(AHI1):c.955G>A (p.Asp319Asn)
NM_001134831.2(AHI1):c.957T>C (p.Asp319=)
NM_001134831.2(AHI1):c.959G>C (p.Gly320Ala)
NM_001134831.2(AHI1):c.966T>C (p.Gly322=)
NM_001134831.2(AHI1):c.966T>G (p.Gly322=)
NM_001134831.2(AHI1):c.96del (p.Lys32fs)
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.971A>G (p.His324Arg) rs1789192683
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile) rs777420094
NM_001134831.2(AHI1):c.989A>T (p.Asp330Val) rs200201741
NM_001134831.2(AHI1):c.992G>A (p.Ser331Asn) rs567183382
NM_001134831.2(AHI1):c.993C>T (p.Ser331=)
NM_001134831.2(AHI1):c.99_110del (p.30KKKL[1]) rs1192897691

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