ClinVar Miner

List of variants in gene AHI1 reported as likely benign for Joubert syndrome

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 595
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HGVS dbSNP gnomAD frequency
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=)

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