NM_001134831.2(AHI1):c.-140+1G>T
|
rs145372075
|
0.00258
|
NM_001134831.2(AHI1):c.*1404A>G
|
rs149288894
|
0.00148
|
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser)
|
rs199879855
|
0.00144
|
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.3109+6766A>G
|
rs201074308
|
0.00078
|
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.1013T>G (p.Leu338Trp)
|
rs201790260
|
0.00033
|
NM_001134831.2(AHI1):c.1829G>A (p.Arg610Gln)
|
rs374009466
|
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.*793A>G
|
rs191324834
|
0.00029
|
NM_001134831.2(AHI1):c.827C>G (p.Ser276Cys)
|
rs190854744
|
0.00028
|
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.-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.1415G>A (p.Arg472Gln)
|
rs770605375
|
0.00014
|
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.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.2203A>G (p.Ile735Val)
|
rs375643798
|
0.00012
|
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.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.653A>G (p.Tyr218Cys)
|
rs183936286
|
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.1131A>G (p.Gln377=)
|
rs142518256
|
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.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.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.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.2920A>G (p.Thr974Ala)
|
rs774471595
|
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.1045A>G (p.Ile349Val)
|
rs748804342
|
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.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.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.1483C>T (p.Arg495Cys)
|
rs891261493
|
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.2266+3A>G
|
rs1220929193
|
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.2988+6T>C
|
rs751303913
|
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.3159A>T (p.Ala1053=)
|
rs143485622
|
0.00001
|
NM_001134831.2(AHI1):c.3165+1G>A
|
rs1448108151
|
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.750-34T>C
|
rs765781545
|
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
|
GRCh37/hg19 6q23.3(chr6:135710490-135740494)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135710693-135730886)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135711195-135740496)
|
|
|
GRCh37/hg19 6q23.3(chr6:135711267-135735779)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135711485-135735779)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135780189-135868217)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135811334-135898414)x3
|
|
|
GRCh37/hg19 6q23.3(chr6:135817826-135896996)x3
|
|
|
GRCh38/hg38 6q23.3(chr6:135397890-135406717)x1
|
|
|
NC_000006.11:g.(135679326_135715913)_(135732683_135748304)del
|
|
|
NC_000006.11:g.(135726116_135732485)_(135818904_?)dup
|
|
|
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.113T>C (p.Val38Ala)
|
|
|
NM_001134831.2(AHI1):c.1151+5_1151+6insG
|
rs1562218791
|
|
NM_001134831.2(AHI1):c.1172A>G (p.Tyr391Cys)
|
|
|
NM_001134831.2(AHI1):c.1196A>G (p.Tyr399Cys)
|
rs1788860785
|
|
NM_001134831.2(AHI1):c.119C>T (p.Ser40Phe)
|
|
|
NM_001134831.2(AHI1):c.1207A>G (p.Ile403Val)
|
|
|
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.1253C>A (p.Pro418Gln)
|
rs2128077398
|
|
NM_001134831.2(AHI1):c.1258T>G (p.Trp420Gly)
|
|
|
NM_001134831.2(AHI1):c.1261G>A (p.Glu421Lys)
|
|
|
NM_001134831.2(AHI1):c.1268A>G (p.Gln423Arg)
|
|
|
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.1403A>C (p.Glu468Ala)
|
|
|
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.1522C>G (p.Pro508Ala)
|
rs2128059018
|
|
NM_001134831.2(AHI1):c.1529G>C (p.Ser510Thr)
|
|
|
NM_001134831.2(AHI1):c.152G>A (p.Ser51Asn)
|
rs759236704
|
|
NM_001134831.2(AHI1):c.1531G>A (p.Val511Ile)
|
|
|
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.1622A>G (p.Asp541Gly)
|
rs1787553194
|
|
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.1715T>C (p.Val572Ala)
|
|
|
NM_001134831.2(AHI1):c.1720A>T (p.Thr574Ser)
|
|
|
NM_001134831.2(AHI1):c.1724A>T (p.Glu575Val)
|
|
|
NM_001134831.2(AHI1):c.1735G>A (p.Glu579Lys)
|
rs1787353725
|
|
NM_001134831.2(AHI1):c.1761G>C (p.Trp587Cys)
|
|
|
NM_001134831.2(AHI1):c.1763A>C (p.Lys588Thr)
|
|
|
NM_001134831.2(AHI1):c.1780-3T>C
|
rs1786509189
|
|
NM_001134831.2(AHI1):c.1796A>G (p.Asn599Ser)
|
rs1429959840
|
|
NM_001134831.2(AHI1):c.1799A>G (p.Lys600Arg)
|
|
|
NM_001134831.2(AHI1):c.1803C>A (p.His601Gln)
|
rs375537062
|
|
NM_001134831.2(AHI1):c.1813C>A (p.Leu605Ile)
|
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.1841G>A (p.Cys614Tyr)
|
|
|
NM_001134831.2(AHI1):c.1849T>A (p.Phe617Ile)
|
rs769173709
|
|
NM_001134831.2(AHI1):c.1858A>G (p.Asn620Asp)
|
|
|
NM_001134831.2(AHI1):c.1865G>A (p.Arg622Lys)
|
rs777497854
|
|
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.1915T>C (p.Tyr639His)
|
rs974371363
|
|
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.2012C>T (p.Thr671Ile)
|
rs772989270
|
|
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.2258A>T (p.Asp753Val)
|
rs1562758269
|
|
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.2276T>C (p.Met759Thr)
|
rs1562754136
|
|
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.2369_2372del (p.Asn790fs)
|
rs1562753388
|
|
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.2543A>G (p.His848Arg)
|
|
|
NM_001134831.2(AHI1):c.2552T>C (p.Leu851Ser)
|
rs2128009440
|
|
NM_001134831.2(AHI1):c.2567C>T (p.Thr856Ile)
|
|
|
NM_001134831.2(AHI1):c.2571T>G (p.Phe857Leu)
|
|
|
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.2591A>T (p.Asp864Val)
|
|
|
NM_001134831.2(AHI1):c.2594G>A (p.Gly865Asp)
|
|
|
NM_001134831.2(AHI1):c.2606T>C (p.Val869Ala)
|
|
|
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.2834G>T (p.Ser945Ile)
|
|
|
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.2879C>T (p.Ser960Phe)
|
|
|
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.2944A>G (p.Arg982Gly)
|
rs1554326426
|
|
NM_001134831.2(AHI1):c.2961+3A>G
|
rs1444567539
|
|
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA
|
rs786200964
|
|
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.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.3002T>G (p.Leu1001Arg)
|
rs1347960440
|
|
NM_001134831.2(AHI1):c.3034C>A (p.Gln1012Lys)
|
|
|
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.3178T>G (p.Tyr1060Asp)
|
|
|
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.3212C>G (p.Thr1071Ser)
|
|
|
NM_001134831.2(AHI1):c.3217C>T (p.His1073Tyr)
|
rs374945386
|
|
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg)
|
rs750115460
|
|
NM_001134831.2(AHI1):c.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.3316G>T (p.Val1106Leu)
|
|
|
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.3352G>A (p.Glu1118Lys)
|
|
|
NM_001134831.2(AHI1):c.336T>A (p.Asn112Lys)
|
|
|
NM_001134831.2(AHI1):c.3397A>G (p.Lys1133Glu)
|
rs756931330
|
|
NM_001134831.2(AHI1):c.3435_3438del (p.Asn1146fs)
|
rs1562458813
|
|
NM_001134831.2(AHI1):c.3437A>G (p.Asn1146Ser)
|
|
|
NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg)
|
|
|
NM_001134831.2(AHI1):c.3453G>C (p.Gln1151His)
|
rs765545542
|
|
NM_001134831.2(AHI1):c.3467G>T (p.Gly1156Val)
|
|
|
NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)
|
|
|
NM_001134831.2(AHI1):c.3486-10C>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.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.41T>A (p.Val14Asp)
|
|
|
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.494T>C (p.Val165Ala)
|
|
|
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)
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rs751749918
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NM_001134831.2(AHI1):c.526G>A (p.Gly176Arg)
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NM_001134831.2(AHI1):c.527G>T (p.Gly176Val)
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rs2128098025
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NM_001134831.2(AHI1):c.538A>G (p.Thr180Ala)
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NM_001134831.2(AHI1):c.542A>C (p.Asp181Ala)
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NM_001134831.2(AHI1):c.556G>A (p.Glu186Lys)
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NM_001134831.2(AHI1):c.562T>A (p.Leu188Met)
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rs775089247
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NM_001134831.2(AHI1):c.569A>G (p.Gln190Arg)
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NM_001134831.2(AHI1):c.575A>G (p.Tyr192Cys)
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NM_001134831.2(AHI1):c.590C>A (p.Thr197Asn)
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NM_001134831.2(AHI1):c.599T>C (p.Met200Thr)
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rs1024535791
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NM_001134831.2(AHI1):c.617G>A (p.Arg206Lys)
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NM_001134831.2(AHI1):c.624A>G (p.Ile208Met)
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NM_001134831.2(AHI1):c.637A>G (p.Lys213Glu)
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rs1790673913
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NM_001134831.2(AHI1):c.679G>A (p.Asp227Asn)
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rs886043592
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NM_001134831.2(AHI1):c.700A>G (p.Lys234Glu)
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NM_001134831.2(AHI1):c.706AAAAAG[1] (p.Lys238_Lys239del)
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rs778008442
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NM_001134831.2(AHI1):c.707A>C (p.Lys236Thr)
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NM_001134831.2(AHI1):c.70A>G (p.Ser24Gly)
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rs28395415
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NM_001134831.2(AHI1):c.712A>G (p.Lys238Glu)
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rs748182443
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NM_001134831.2(AHI1):c.727G>A (p.Val243Ile)
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NM_001134831.2(AHI1):c.750-16_750-15insA
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NM_001134831.2(AHI1):c.751A>G (p.Thr251Ala)
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NM_001134831.2(AHI1):c.756G>C (p.Leu252Phe)
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rs1790220318
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NM_001134831.2(AHI1):c.760A>G (p.Ile254Val)
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NM_001134831.2(AHI1):c.780A>T (p.Glu260Asp)
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NM_001134831.2(AHI1):c.7A>T (p.Thr3Ser)
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rs1380181596
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NM_001134831.2(AHI1):c.851C>T (p.Ser284Leu)
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rs1481234264
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NM_001134831.2(AHI1):c.856G>C (p.Glu286Gln)
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NM_001134831.2(AHI1):c.872A>C (p.Asp291Ala)
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NM_001134831.2(AHI1):c.877A>G (p.Met293Val)
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NM_001134831.2(AHI1):c.881A>G (p.Gln294Arg)
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rs771092146
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NM_001134831.2(AHI1):c.884A>G (p.Asp295Gly)
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rs1368691324
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NM_001134831.2(AHI1):c.889A>G (p.Thr297Ala)
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rs1790189960
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NM_001134831.2(AHI1):c.901C>G (p.Pro301Ala)
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NM_001134831.2(AHI1):c.909_917del (p.Thr304_Lys306del)
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rs1417477245
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NM_001134831.2(AHI1):c.910A>G (p.Thr304Ala)
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NM_001134831.2(AHI1):c.928G>A (p.Ala310Thr)
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NM_001134831.2(AHI1):c.931+3_931+4del
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rs2128092551
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NM_001134831.2(AHI1):c.931+5G>A
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rs1216222889
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NM_001134831.2(AHI1):c.935C>T (p.Ala312Val)
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NM_001134831.2(AHI1):c.940A>C (p.Asn314His)
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rs1789198105
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NM_001134831.2(AHI1):c.940A>G (p.Asn314Asp)
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NM_001134831.2(AHI1):c.950A>T (p.Asp317Val)
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rs769064296
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NM_001134831.2(AHI1):c.955G>A (p.Asp319Asn)
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NM_001134831.2(AHI1):c.959G>C (p.Gly320Ala)
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NM_001134831.2(AHI1):c.96dup (p.Leu33fs)
|
rs747322175
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NM_001134831.2(AHI1):c.971A>G (p.His324Arg)
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rs1789192683
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NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)
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rs777420094
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NM_001134831.2(AHI1):c.989A>T (p.Asp330Val)
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rs200201741
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NM_001134831.2(AHI1):c.99_110del (p.30KKKL[1])
|
rs1192897691
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NM_017651.4(AHI1):c.-277G>A
|
rs886061113
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NM_017651.4(AHI1):c.-284G>A
|
rs886061114
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NM_017651.4(AHI1):c.-286C>G
|
rs533416517
|
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