NM_001134831.2(AHI1):c.*396_*397dup
|
rs397885237
|
0.11907
|
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=)
|
rs41287054
|
0.01682
|
NM_001134831.2(AHI1):c.1152-11T>G
|
rs113317693
|
0.01324
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
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.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)
|
rs143522987
|
0.00307
|
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.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
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.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_001134831.2(AHI1):c.1533T>G (p.Val511=)
|
rs373669500
|
0.00058
|
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)
|
rs199708272
|
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.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.2706T>C (p.Val902=)
|
rs576859418
|
0.00016
|
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.2374-8C>T
|
rs553894171
|
0.00014
|
NM_001134831.2(AHI1):c.1303C>A (p.Arg435=)
|
rs121434349
|
0.00013
|
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=)
|
rs373772212
|
0.00013
|
NM_001134831.2(AHI1):c.1157G>A (p.Arg386Gln)
|
rs371243793
|
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.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.2873A>G (p.Gln958Arg)
|
rs201771478
|
0.00009
|
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)
|
rs370400336
|
0.00009
|
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser)
|
rs368077581
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001134831.2(AHI1):c.3589-16G>A
|
rs201034412
|
0.00008
|
NM_001134831.2(AHI1):c.1593C>T (p.Tyr531=)
|
rs370332260
|
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.1892G>A (p.Arg631Gln)
|
rs780823419
|
0.00006
|
NM_001134831.2(AHI1):c.2794C>T (p.Arg932Cys)
|
rs370101143
|
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.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.1281T>C (p.Asn427=)
|
rs759903519
|
0.00004
|
NM_001134831.2(AHI1):c.2374-16T>C
|
rs775777106
|
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.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.3329-20A>G
|
rs1004117268
|
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.2294C>T (p.Thr765Ile)
|
rs200017073
|
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.3285G>A (p.Lys1095=)
|
rs1016306200
|
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.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.2493-12T>C
|
rs753811172
|
0.00002
|
NM_001134831.2(AHI1):c.2511T>C (p.Phe837=)
|
rs774900587
|
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.3109+8C>T
|
rs760955304
|
0.00002
|
NM_001134831.2(AHI1):c.996G>A (p.Pro332=)
|
rs765587432
|
0.00002
|
NM_001134831.2(AHI1):c.11-19A>G
|
rs945855139
|
0.00001
|
NM_001134831.2(AHI1):c.1345-18C>A
|
rs1418817424
|
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.1452C>A (p.Ala484=)
|
rs758676596
|
0.00001
|
NM_001134831.2(AHI1):c.1558A>G (p.Lys520Glu)
|
rs751011125
|
0.00001
|
NM_001134831.2(AHI1):c.1683G>A (p.Val561=)
|
rs757056964
|
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.186T>C (p.Asp62=)
|
rs1485284078
|
0.00001
|
NM_001134831.2(AHI1):c.190-17A>G
|
rs762843841
|
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.2052A>G (p.Glu684=)
|
rs776429465
|
0.00001
|
NM_001134831.2(AHI1):c.2172A>G (p.Ile724Met)
|
rs547837278
|
0.00001
|
NM_001134831.2(AHI1):c.2266+9G>A
|
rs762842225
|
0.00001
|
NM_001134831.2(AHI1):c.2267-19A>T
|
rs971512231
|
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.2492+19T>C
|
rs1406778075
|
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.279C>T (p.Ser93=)
|
rs1205189543
|
0.00001
|
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=)
|
rs775305093
|
0.00001
|
NM_001134831.2(AHI1):c.282G>A (p.Thr94=)
|
rs760858792
|
0.00001
|
NM_001134831.2(AHI1):c.2962-13G>A
|
rs927158679
|
0.00001
|
NM_001134831.2(AHI1):c.2989-7A>G
|
rs957458736
|
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.3159A>T (p.Ala1053=)
|
rs143485622
|
0.00001
|
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
|
rs756637497
|
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.3498A>G (p.Arg1166=)
|
rs746858024
|
0.00001
|
NM_001134831.2(AHI1):c.3564A>G (p.Ala1188=)
|
rs759877397
|
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.636G>A (p.Leu212=)
|
rs1790674290
|
0.00001
|
NM_001134831.2(AHI1):c.645G>A (p.Gln215=)
|
rs1211023912
|
0.00001
|
NM_001134831.2(AHI1):c.873C>T (p.Asp291=)
|
rs1050617914
|
0.00001
|
NM_001134831.2(AHI1):c.960T>C (p.Gly320=)
|
rs756756153
|
0.00001
|
NM_001134831.2(AHI1):c.10+10C>T
|
|
|
NM_001134831.2(AHI1):c.10+14G>A
|
|
|
NM_001134831.2(AHI1):c.1011T>C (p.Cys337=)
|
|
|
NM_001134831.2(AHI1):c.1012T>C (p.Leu338=)
|
|
|
NM_001134831.2(AHI1):c.1023T>C (p.Asp341=)
|
rs993439588
|
|
NM_001134831.2(AHI1):c.1026C>T (p.Asp342=)
|
|
|
NM_001134831.2(AHI1):c.1029T>C (p.Leu343=)
|
|
|
NM_001134831.2(AHI1):c.1051C>A (p.Arg351=)
|
rs121434348
|
|
NM_001134831.2(AHI1):c.1056T>C (p.Thr352=)
|
|
|
NM_001134831.2(AHI1):c.1065T>C (p.Leu355=)
|
|
|
NM_001134831.2(AHI1):c.11-12T>C
|
rs2128134488
|
|
NM_001134831.2(AHI1):c.11-13G>A
|
|
|
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.1125T>A (p.Thr375=)
|
|
|
NM_001134831.2(AHI1):c.1151+16T>C
|
|
|
NM_001134831.2(AHI1):c.1151+19A>G
|
|
|
NM_001134831.2(AHI1):c.1151+20_1151+21del
|
|
|
NM_001134831.2(AHI1):c.1152-18G>T
|
|
|
NM_001134831.2(AHI1):c.1152-19A>G
|
|
|
NM_001134831.2(AHI1):c.1152-5T>C
|
|
|
NM_001134831.2(AHI1):c.1156C>A (p.Arg386=)
|
|
|
NM_001134831.2(AHI1):c.1167A>G (p.Ser389=)
|
|
|
NM_001134831.2(AHI1):c.1179A>G (p.Glu393=)
|
|
|
NM_001134831.2(AHI1):c.1185G>A (p.Glu395=)
|
|
|
NM_001134831.2(AHI1):c.1215C>G (p.Thr405=)
|
|
|
NM_001134831.2(AHI1):c.1236G>A (p.Gln412=)
|
|
|
NM_001134831.2(AHI1):c.1254A>G (p.Pro418=)
|
|
|
NM_001134831.2(AHI1):c.1293C>G (p.Pro431=)
|
|
|
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.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+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.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.136-20_136-15del
|
|
|
NM_001134831.2(AHI1):c.136-4T>G
|
|
|
NM_001134831.2(AHI1):c.1365G>A (p.Val455=)
|
|
|
NM_001134831.2(AHI1):c.1398C>T (p.Asn466=)
|
|
|
NM_001134831.2(AHI1):c.1414C>A (p.Arg472=)
|
|
|
NM_001134831.2(AHI1):c.1425C>T (p.Ala475=)
|
|
|
NM_001134831.2(AHI1):c.1440+16A>G
|
|
|
NM_001134831.2(AHI1):c.1440+17T>C
|
|
|
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.1455T>C (p.Asn485=)
|
rs765844068
|
|
NM_001134831.2(AHI1):c.1491G>A (p.Gln497=)
|
|
|
NM_001134831.2(AHI1):c.1500C>T (p.Tyr500=)
|
|
|
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.1518A>G (p.Arg506=)
|
rs1460484266
|
|
NM_001134831.2(AHI1):c.1524A>G (p.Pro508=)
|
rs368162800
|
|
NM_001134831.2(AHI1):c.1524A>T (p.Pro508=)
|
|
|
NM_001134831.2(AHI1):c.1527A>G (p.Leu509=)
|
rs2128058989
|
|
NM_001134831.2(AHI1):c.156T>C (p.Asn52=)
|
|
|
NM_001134831.2(AHI1):c.1581A>G (p.Pro527=)
|
|
|
NM_001134831.2(AHI1):c.1608A>G (p.Gly536=)
|
|
|
NM_001134831.2(AHI1):c.1641C>T (p.Tyr547=)
|
|
|
NM_001134831.2(AHI1):c.1644C>G (p.Arg548=)
|
rs2128056589
|
|
NM_001134831.2(AHI1):c.165T>C (p.Tyr55=)
|
|
|
NM_001134831.2(AHI1):c.1674T>G (p.Gly558=)
|
rs750069868
|
|
NM_001134831.2(AHI1):c.1686T>C (p.His562=)
|
|
|
NM_001134831.2(AHI1):c.1710C>T (p.Ser570=)
|
|
|
NM_001134831.2(AHI1):c.1755A>C (p.Ile585=)
|
|
|
NM_001134831.2(AHI1):c.1764A>G (p.Lys588=)
|
|
|
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+20_1779+32del
|
|
|
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.1780-8T>C
|
|
|
NM_001134831.2(AHI1):c.1780-9G>A
|
|
|
NM_001134831.2(AHI1):c.1818T>C (p.Asn606=)
|
|
|
NM_001134831.2(AHI1):c.1824A>C (p.Gly608=)
|
|
|
NM_001134831.2(AHI1):c.1860T>C (p.Asn620=)
|
|
|
NM_001134831.2(AHI1):c.1875A>G (p.Ala625=)
|
|
|
NM_001134831.2(AHI1):c.1878A>G (p.Ala626=)
|
|
|
NM_001134831.2(AHI1):c.189+11C>T
|
|
|
NM_001134831.2(AHI1):c.189+13A>G
|
|
|
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.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.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.1913-20_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.1950G>A (p.Leu650=)
|
|
|
NM_001134831.2(AHI1):c.1959C>T (p.His653=)
|
|
|
NM_001134831.2(AHI1):c.1968C>T (p.Ile656=)
|
|
|
NM_001134831.2(AHI1):c.1989A>G (p.Ser663=)
|
|
|
NM_001134831.2(AHI1):c.2001C>T (p.His667=)
|
|
|
NM_001134831.2(AHI1):c.2007C>T (p.Ile669=)
|
|
|
NM_001134831.2(AHI1):c.2010T>C (p.Leu670=)
|
|
|
NM_001134831.2(AHI1):c.2016A>G (p.Ser672=)
|
|
|
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+9C>A
|
|
|
NM_001134831.2(AHI1):c.2037-10C>A
|
rs1483842780
|
|
NM_001134831.2(AHI1):c.2037-10C>T
|
|
|
NM_001134831.2(AHI1):c.2037-15C>G
|
|
|
NM_001134831.2(AHI1):c.2067T>C (p.Asn689=)
|
|
|
NM_001134831.2(AHI1):c.2115C>T (p.Phe705=)
|
|
|
NM_001134831.2(AHI1):c.2121A>G (p.Pro707=)
|
|
|
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.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.2178A>G (p.Lys726=)
|
|
|
NM_001134831.2(AHI1):c.2181T>A (p.Val727=)
|
|
|
NM_001134831.2(AHI1):c.2206T>C (p.Leu736=)
|
|
|
NM_001134831.2(AHI1):c.2226T>G (p.Val742=)
|
|
|
NM_001134831.2(AHI1):c.222T>C (p.Ile74=)
|
rs375875794
|
|
NM_001134831.2(AHI1):c.2247A>C (p.Ser749=)
|
|
|
NM_001134831.2(AHI1):c.2253T>C (p.Cys751=)
|
|
|
NM_001134831.2(AHI1):c.225A>G (p.Lys75=)
|
|
|
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.2267-11T>G
|
|
|
NM_001134831.2(AHI1):c.2267-12T>G
|
|
|
NM_001134831.2(AHI1):c.2267-14A>C
|
rs1342603314
|
|
NM_001134831.2(AHI1):c.2267-16T>G
|
|
|
NM_001134831.2(AHI1):c.2267-19dup
|
|
|
NM_001134831.2(AHI1):c.2283A>G (p.Ser761=)
|
|
|
NM_001134831.2(AHI1):c.2295A>G (p.Thr765=)
|
|
|
NM_001134831.2(AHI1):c.2298G>A (p.Gly766=)
|
|
|
NM_001134831.2(AHI1):c.2319C>T (p.Thr773=)
|
|
|
NM_001134831.2(AHI1):c.2322T>C (p.Tyr774=)
|
|
|
NM_001134831.2(AHI1):c.2340G>A (p.Leu780=)
|
|
|
NM_001134831.2(AHI1):c.234A>C (p.Thr78=)
|
|
|
NM_001134831.2(AHI1):c.2355C>T (p.His785=)
|
|
|
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.2374-20A>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.2391G>A (p.Glu797=)
|
|
|
NM_001134831.2(AHI1):c.2397G>A (p.Lys799=)
|
rs747639578
|
|
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.2466T>C (p.Ser822=)
|
|
|
NM_001134831.2(AHI1):c.2492+15G>C
|
|
|
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.2493-5T>C
|
|
|
NM_001134831.2(AHI1):c.2502A>G (p.Ala834=)
|
|
|
NM_001134831.2(AHI1):c.2514A>G (p.Val838=)
|
|
|
NM_001134831.2(AHI1):c.2544T>C (p.His848=)
|
|
|
NM_001134831.2(AHI1):c.2547T>C (p.Ser849=)
|
|
|
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.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.2598A>C (p.Ile866=)
|
rs1448795637
|
|
NM_001134831.2(AHI1):c.2604T>C (p.Tyr868=)
|
|
|
NM_001134831.2(AHI1):c.2616A>G (p.Pro872=)
|
|
|
NM_001134831.2(AHI1):c.261T>C (p.Thr87=)
|
|
|
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.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.2624-4T>C
|
|
|
NM_001134831.2(AHI1):c.2624-8_2624-7del
|
|
|
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.2671C>A (p.Arg891=)
|
|
|
NM_001134831.2(AHI1):c.2706T>G (p.Val902=)
|
|
|
NM_001134831.2(AHI1):c.2718A>C (p.Ala906=)
|
|
|
NM_001134831.2(AHI1):c.2745G>T (p.Leu915=)
|
|
|
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+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.2771A>G (p.Gln924Arg)
|
|
|
NM_001134831.2(AHI1):c.2775G>A (p.Gln925=)
|
|
|
NM_001134831.2(AHI1):c.2781T>C (p.Ala927=)
|
|
|
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.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.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.288C>A (p.Val96=)
|
rs2128098750
|
|
NM_001134831.2(AHI1):c.2895A>G (p.Glu965=)
|
|
|
NM_001134831.2(AHI1):c.2901C>T (p.Val967=)
|
|
|
NM_001134831.2(AHI1):c.2921C>T (p.Thr974Met)
|
rs373303895
|
|
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+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.2964G>A (p.Glu988=)
|
rs1356996626
|
|
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.2989-15G>C
|
|
|
NM_001134831.2(AHI1):c.2989-8T>C
|
|
|
NM_001134831.2(AHI1):c.3024A>T (p.Ala1008=)
|
|
|
NM_001134831.2(AHI1):c.3069C>G (p.Thr1023=)
|
|
|
NM_001134831.2(AHI1):c.3069C>T (p.Thr1023=)
|
|
|
NM_001134831.2(AHI1):c.3075A>G (p.Gln1025=)
|
|
|
NM_001134831.2(AHI1):c.3081T>C (p.Ile1027=)
|
|
|
NM_001134831.2(AHI1):c.3084A>G (p.Leu1028=)
|
|
|
NM_001134831.2(AHI1):c.309C>T (p.Asn103=)
|
|
|
NM_001134831.2(AHI1):c.3105G>A (p.Gln1035=)
|
|
|
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+7C>T
|
|
|
NM_001134831.2(AHI1):c.3109+8C>A
|
|
|
NM_001134831.2(AHI1):c.3110-10C>A
|
|
|
NM_001134831.2(AHI1):c.3110-10C>G
|
|
|
NM_001134831.2(AHI1):c.3110-20dup
|
|
|
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.3126A>G (p.Glu1042=)
|
|
|
NM_001134831.2(AHI1):c.312A>G (p.Thr104=)
|
|
|
NM_001134831.2(AHI1):c.3156A>G (p.Thr1052=)
|
|
|
NM_001134831.2(AHI1):c.3165+9G>A
|
|
|
NM_001134831.2(AHI1):c.3196C>A (p.Arg1066=)
|
rs780163791
|
|
NM_001134831.2(AHI1):c.3201A>C (p.Ser1067=)
|
|
|
NM_001134831.2(AHI1):c.3208C>T (p.Leu1070=)
|
|
|
NM_001134831.2(AHI1):c.3222C>T (p.Arg1074=)
|
|
|
NM_001134831.2(AHI1):c.3237A>G (p.Arg1079=)
|
|
|
NM_001134831.2(AHI1):c.3252T>C (p.Asp1084=)
|
rs2128384644
|
|
NM_001134831.2(AHI1):c.3315T>C (p.His1105=)
|
|
|
NM_001134831.2(AHI1):c.3328+11T>C
|
rs2128384460
|
|
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.3329-7A>C
|
|
|
NM_001134831.2(AHI1):c.3329-8A>G
|
|
|
NM_001134831.2(AHI1):c.3329-9C>T
|
|
|
NM_001134831.2(AHI1):c.3330A>C (p.Thr1110=)
|
|
|
NM_001134831.2(AHI1):c.3345G>T (p.Leu1115=)
|
|
|
NM_001134831.2(AHI1):c.3351T>G (p.Pro1117=)
|
|
|
NM_001134831.2(AHI1):c.336T>C (p.Asn112=)
|
|
|
NM_001134831.2(AHI1):c.3384T>C (p.Pro1128=)
|
|
|
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+20C>A
|
|
|
NM_001134831.2(AHI1):c.3426+20C>T
|
|
|
NM_001134831.2(AHI1):c.3427-14C>T
|
|
|
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.3432A>G (p.Ser1144=)
|
|
|
NM_001134831.2(AHI1):c.3440A>G (p.Lys1147Arg)
|
|
|
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.3471A>C (p.Ser1157=)
|
|
|
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.3486-4A>G
|
rs534053819
|
|
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.3567C>G (p.Gly1189=)
|
|
|
NM_001134831.2(AHI1):c.3568A>C (p.Arg1190=)
|
|
|
NM_001134831.2(AHI1):c.3582A>G (p.Leu1194=)
|
rs1337536400
|
|
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+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.381A>G (p.Lys127=)
|
|
|
NM_001134831.2(AHI1):c.390A>C (p.Ile130=)
|
|
|
NM_001134831.2(AHI1):c.406T>C (p.Leu136=)
|
rs1299907778
|
|
NM_001134831.2(AHI1):c.414A>G (p.Thr138=)
|
|
|
NM_001134831.2(AHI1):c.428C>G (p.Pro143Arg)
|
rs192524061
|
|
NM_001134831.2(AHI1):c.429G>A (p.Pro143=)
|
|
|
NM_001134831.2(AHI1):c.441G>A (p.Glu147=)
|
|
|
NM_001134831.2(AHI1):c.456T>G (p.Ser152=)
|
rs1488249011
|
|
NM_001134831.2(AHI1):c.45C>G (p.Arg15=)
|
|
|
NM_001134831.2(AHI1):c.462C>T (p.His154=)
|
|
|
NM_001134831.2(AHI1):c.471A>G (p.Thr157=)
|
|
|
NM_001134831.2(AHI1):c.486G>A (p.Gln162=)
|
rs2128098201
|
|
NM_001134831.2(AHI1):c.492C>T (p.Gly164=)
|
|
|
NM_001134831.2(AHI1):c.51A>G (p.Glu17=)
|
|
|
NM_001134831.2(AHI1):c.54A>G (p.Glu18=)
|
|
|
NM_001134831.2(AHI1):c.55T>C (p.Leu19=)
|
|
|
NM_001134831.2(AHI1):c.573A>G (p.Ala191=)
|
|
|
NM_001134831.2(AHI1):c.573A>T (p.Ala191=)
|
rs200993978
|
|
NM_001134831.2(AHI1):c.57G>A (p.Leu19=)
|
|
|
NM_001134831.2(AHI1):c.582C>T (p.Cys194=)
|
|
|
NM_001134831.2(AHI1):c.606G>A (p.Lys202=)
|
|
|
NM_001134831.2(AHI1):c.624A>T (p.Ile208=)
|
|
|
NM_001134831.2(AHI1):c.63G>A (p.Lys21=)
|
rs2128134408
|
|
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.712A>G (p.Lys238Glu)
|
rs748182443
|
|
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+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+17A>T
|
rs943581343
|
|
NM_001134831.2(AHI1):c.750-10A>G
|
|
|
NM_001134831.2(AHI1):c.750-16T>C
|
|
|
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.753A>G (p.Thr251=)
|
|
|
NM_001134831.2(AHI1):c.756G>A (p.Leu252=)
|
|
|
NM_001134831.2(AHI1):c.765T>G (p.Ser255=)
|
|
|
NM_001134831.2(AHI1):c.813A>G (p.Ser271=)
|
|
|
NM_001134831.2(AHI1):c.849C>T (p.Ser283=)
|
|
|
NM_001134831.2(AHI1):c.885T>C (p.Asp295=)
|
|
|
NM_001134831.2(AHI1):c.888T>C (p.Asp296=)
|
|
|
NM_001134831.2(AHI1):c.891A>G (p.Thr297=)
|
|
|
NM_001134831.2(AHI1):c.903A>T (p.Pro301=)
|
|
|
NM_001134831.2(AHI1):c.931+14A>G
|
|
|
NM_001134831.2(AHI1):c.931+8A>C
|
|
|
NM_001134831.2(AHI1):c.932-12C>A
|
|
|
NM_001134831.2(AHI1):c.932-15T>C
|
|
|
NM_001134831.2(AHI1):c.932-7C>T
|
|
|
NM_001134831.2(AHI1):c.93A>G (p.Lys31=)
|
|
|
NM_001134831.2(AHI1):c.951T>C (p.Asp317=)
|
|
|
NM_001134831.2(AHI1):c.957T>C (p.Asp319=)
|
|
|
NM_001134831.2(AHI1):c.966T>C (p.Gly322=)
|
|
|
NM_001134831.2(AHI1):c.966T>G (p.Gly322=)
|
|
|
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)
|
rs777420094
|
|
NM_001134831.2(AHI1):c.992G>A (p.Ser331Asn)
|
rs567183382
|
|
NM_001134831.2(AHI1):c.993C>T (p.Ser331=)
|
|
|