ClinVar Miner

List of variants in gene GAA reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 707
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HGVS dbSNP
NC_000017.10:g.(?_78078341)_(78093140_?)dup
NC_000017.10:g.(?_78078341)_(78093150_?)dup
NC_000017.11:g.(?_80104542)_(80105914_?)del
NC_000017.11:g.(?_80107537)_(80113386_?)del
NC_000017.11:g.(?_80108677)_(80113386_?)del
NC_000017.11:g.(?_80109935)_(80113376_?)del
NC_000017.11:g.(?_80118183)_(80118367_?)del
NC_000017.11:g.(?_80118193)_(80118357_?)del
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
NM_000152.5(GAA):c.1005G>A (p.Gly335=) rs1598576696
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480
NM_000152.5(GAA):c.1035A>C (p.Pro345=) rs942325926
NM_000152.5(GAA):c.1041C>T (p.Pro347=) rs1489442441
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1053G>A (p.Val351=) rs773063199
NM_000152.5(GAA):c.1059G>A (p.Gln353=) rs376146090
NM_000152.5(GAA):c.1068C>T (p.Asp356=) rs751215137
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
NM_000152.5(GAA):c.1071T>C (p.Val357=) rs1598576937
NM_000152.5(GAA):c.1075+4G>A rs754290055
NM_000152.5(GAA):c.1075+9T>C rs751918816
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1076-22T>G rs762260678
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.5(GAA):c.109C>G (p.Leu37Val) rs369775994
NM_000152.5(GAA):c.1103G>T (p.Gly368Val) rs368244038
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
NM_000152.5(GAA):c.1140C>T (p.Ser380=) rs1214685237
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988
NM_000152.5(GAA):c.1170C>T (p.Asn390=) rs757174980
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) rs756126944
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
NM_000152.5(GAA):c.1192C>T (p.Leu398=) rs369707231
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+3G>C rs368539333
NM_000152.5(GAA):c.1194+6T>C rs1470004759
NM_000152.5(GAA):c.1195-2A>C
NM_000152.5(GAA):c.1195-8G>A rs1194778188
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) rs374476196
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly)
NM_000152.5(GAA):c.1225dup (p.Asp409fs)
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) rs777431563
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) rs372799904
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) rs1283810246
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868
NM_000152.5(GAA):c.1275G>A (p.Pro425=) rs762826072
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) rs201463496
NM_000152.5(GAA):c.1302C>T (p.Gly434=) rs752231775
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
NM_000152.5(GAA):c.1317_1319GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348
NM_000152.5(GAA):c.1326+8C>A rs762988038
NM_000152.5(GAA):c.1327-8C>T rs1598579967
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) rs145712232
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) rs753483808
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs)
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg) rs550065979
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
NM_000152.5(GAA):c.1372T>C (p.Tyr458His) rs1567832012
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
NM_000152.5(GAA):c.1377dup (p.Glu460fs)
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1396G>C (p.Val466Leu) rs375006053
NM_000152.5(GAA):c.1396del (p.Val466fs)
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser) rs201409613
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) rs886043976
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.5(GAA):c.1426C>A (p.Leu476Met) rs756613882
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs)
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) rs1598580369
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+2T>C
NM_000152.5(GAA):c.1437+6G>A
NM_000152.5(GAA):c.1437+8G>A rs779194427
NM_000152.5(GAA):c.1438-10C>T rs1029231930
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1439T>C (p.Val480Ala) rs1224298513
NM_000152.5(GAA):c.1440A>G (p.Val480=) rs1555600737
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
NM_000152.5(GAA):c.1464dup (p.Asp489fs)
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1486C>T (p.Leu496=) rs1598581572
NM_000152.5(GAA):c.1488G>A (p.Leu496=) rs750777002
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000152.5(GAA):c.148G>T (p.Glu50Ter)
NM_000152.5(GAA):c.1491C>T (p.Ala497=) rs373993015
NM_000152.5(GAA):c.1500G>A (p.Glu500=) rs893313279
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1518C>T (p.Phe506=) rs1464913441
NM_000152.5(GAA):c.1519dup (p.His507fs)
NM_000152.5(GAA):c.1533C>G (p.Pro511=) rs1598581655
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1552-14_1552-1del rs1567833173
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
NM_000152.5(GAA):c.1579del (p.Arg527fs)
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) rs1598582021
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg) rs1039935633
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) rs368568190
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu) rs1598582130
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610
NM_000152.5(GAA):c.1631T>A (p.Val544Glu) rs1567833361
NM_000152.5(GAA):c.1636+7T>C rs1041767114
NM_000152.5(GAA):c.1636+8C>T rs572293131
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.1662G>A (p.Ala554=) rs775954786
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.167A>T (p.His56Leu)
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp) rs1555601255
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
NM_000152.5(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
NM_000152.5(GAA):c.1750C>A (p.His584Asn) rs780475756
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp) rs1555601273
NM_000152.5(GAA):c.1754+1_1754+7del
NM_000152.5(GAA):c.1754+6G>C rs1282791373
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
NM_000152.5(GAA):c.1755-1G>A
NM_000152.5(GAA):c.1755-3C>T
NM_000152.5(GAA):c.1755-7A>G rs781539108
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs)
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084
NM_000152.5(GAA):c.17C>A (p.Pro6Gln) rs771409180
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) rs771409180
NM_000152.5(GAA):c.1800C>T (p.Arg600=) rs1598584611
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794
NM_000152.5(GAA):c.1803G>A (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1803G>T (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1806C>A (p.Thr602=) rs1598584645
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
NM_000152.5(GAA):c.1818C>T (p.His606=) rs374368644
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) rs940955642
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.183C>T (p.Ser61=) rs17853995
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
NM_000152.5(GAA):c.1872C>T (p.Leu624=) rs373103422
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1882G>A (p.Val628Met) rs745911962
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.5(GAA):c.1888+5G>T rs528282884
NM_000152.5(GAA):c.1888+6_1888+14del
NM_000152.5(GAA):c.1888+8C>T rs772887194
NM_000152.5(GAA):c.1893C>T (p.Ile631=) rs1598585395
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
NM_000152.5(GAA):c.18G>A (p.Pro6=) rs774703637
NM_000152.5(GAA):c.18G>C (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999
NM_000152.5(GAA):c.1914G>A (p.Gly638=) rs1305357140
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
NM_000152.5(GAA):c.1929G>A (p.Gly643=) rs371096565
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) rs1448515860
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu) rs770248553
NM_000152.5(GAA):c.1948C>A (p.Leu650Met) rs1359573192
NM_000152.5(GAA):c.194C>A (p.Pro65His) rs1482530928
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
NM_000152.5(GAA):c.1977G>A (p.Val659=) rs751873094
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
NM_000152.5(GAA):c.1989G>A (p.Gln663=) rs1189531783
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr) rs916566117
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) rs916566117
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.5(GAA):c.2040+1G>T rs1057516928
NM_000152.5(GAA):c.2040+4G>C rs1598585909
NM_000152.5(GAA):c.2040+8G>C rs779647712
NM_000152.5(GAA):c.2041-4G>T rs775757700
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) rs776486462
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2055C>T (p.Tyr685=) rs750214208
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys) rs1598586309
NM_000152.5(GAA):c.205C>G (p.Gln69Glu) rs370174315
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer)
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754
NM_000152.5(GAA):c.2097C>T (p.Leu699=) rs1381174968
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
NM_000152.5(GAA):c.209C>A (p.Ala70Glu) rs775376321
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2122C>A (p.His708Asn) rs149916476
NM_000152.5(GAA):c.2122C>T (p.His708Tyr) rs149916476
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) rs1332887976
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2154C>G (p.Val718=) rs1800311
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2156C>T (p.Ala719Val) rs146762316
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln) rs140376273
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734
NM_000152.5(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) rs1290010789
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) rs1232306443
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2190-10C>A rs1567838707
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2196C>A (p.Pro732=) rs915890435
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.221G>A (p.Arg74His)
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) rs767773929
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) rs1347832021
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.223C>T (p.Pro75Ser) rs755561471
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.5(GAA):c.2274C>T (p.Ala758=) rs150431943
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) rs138183791
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2283C>T (p.Ala761=) rs774769974
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter)
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.229G>T (p.Ala77Ser) rs781365881
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) rs147290429
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2332-5T>G rs1276069832
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) rs539031621
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534
NM_000152.5(GAA):c.240A>G (p.Thr80=) rs778124725
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009
NM_000152.5(GAA):c.2424G>A (p.Pro808=) rs763272351
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
NM_000152.5(GAA):c.2430C>G (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2432del (p.Leu811fs)
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
NM_000152.5(GAA):c.2445C>T (p.Asn815=) rs755846997
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120
NM_000152.5(GAA):c.2459C>T (p.Ala820Val) rs786204304
NM_000152.5(GAA):c.2459_2461del (p.Ala820del) rs1182634884
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.5(GAA):c.246C>T (p.Cys82=) rs749584846
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.247G>A (p.Asp83Asn) rs771101156
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.2481+5C>G rs1598592432
NM_000152.5(GAA):c.2481+6T>C rs1479232207
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg) rs1598593166
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) rs1555603057
NM_000152.5(GAA):c.2499_2500CA[1] (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) rs752421149
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011
NM_000152.5(GAA):c.2510G>A (p.Arg837His) rs746095374
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys) rs920085419
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
NM_000152.5(GAA):c.252C>T (p.Val84=) rs775079960
NM_000152.5(GAA):c.2544C>T (p.Thr848=) rs776487269
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) rs1445358978
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln) rs747076541
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) rs769578772
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2647-6G>T rs201525743
NM_000152.5(GAA):c.2647-7G>A rs192679574
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2655C>T (p.Ile885=) rs774840779
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) rs377249041
NM_000152.5(GAA):c.2672G>A (p.Arg891His) rs199524847
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu) rs199524847
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
NM_000152.5(GAA):c.270C>T (p.Phe90=) rs768078324
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065
NM_000152.5(GAA):c.2732C>T (p.Thr911Met) rs1027032995
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2739C>T (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.2751C>T (p.Leu917=) rs146507838
NM_000152.5(GAA):c.2754C>A (p.Ser918=) rs1598594382
NM_000152.5(GAA):c.2757C>T (p.Asn919=) rs766916186
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198
NM_000152.5(GAA):c.2761G>T (p.Val921Phe) rs1555603286
NM_000152.5(GAA):c.2769C>A (p.Val923=) rs1272166322
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu) rs1555603301
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) rs142481170
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) rs1598594483
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
NM_000152.5(GAA):c.2799+10C>G rs1482012226
NM_000152.5(GAA):c.2799+2C>T rs1555603318
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
NM_000152.5(GAA):c.2813_2814GT[1] (p.Val939fs) rs763359208
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) rs1034101189
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) rs183458422
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) rs778816809
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174
NM_000152.5(GAA):c.309C>T (p.Cys103=) rs373307393
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
NM_000152.5(GAA):c.311_313del (p.Glu104del)
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.319G>A (p.Gly107Ser) rs151323405
NM_000152.5(GAA):c.31C>G (p.Arg11Gly) rs772394815
NM_000152.5(GAA):c.31C>T (p.Arg11Trp) rs772394815
NM_000152.5(GAA):c.322T>A (p.Cys108Ser)
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) rs754285414
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353
NM_000152.5(GAA):c.355G>A (p.Gly119Arg) rs1555598802
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806
NM_000152.5(GAA):c.370C>G (p.Gln124Glu) rs1291571294
NM_000152.5(GAA):c.378G>A (p.Trp126Ter)
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
NM_000152.5(GAA):c.393C>G (p.Pro131=) rs769276948
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626
NM_000152.5(GAA):c.412C>G (p.Leu138Val) rs761221259
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673
NM_000152.5(GAA):c.42C>G (p.Ala14=) rs141377453
NM_000152.5(GAA):c.43G>A (p.Val15Ile) rs772157487
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) rs991177340
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) rs1567826289
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.461G>A (p.Arg154His)
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.487G>A (p.Asp163Asn) rs1204103099
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) rs751425831
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.5(GAA):c.503G>C (p.Arg168Pro) rs376685205
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535
NM_000152.5(GAA):c.539A>G (p.His180Arg)
NM_000152.5(GAA):c.545C>G (p.Thr182Arg) rs200524747
NM_000152.5(GAA):c.546+3G>A rs371405931
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546+6C>T rs375727055
NM_000152.5(GAA):c.546+7A>C rs1329049814
NM_000152.5(GAA):c.546+8G>A rs200107080
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198
NM_000152.5(GAA):c.566G>A (p.Arg189Lys) rs1598571878
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) rs751286274
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808
NM_000152.5(GAA):c.618C>T (p.Ser206=) rs146292898
NM_000152.5(GAA):c.625T>C (p.Tyr209His) rs930808379
NM_000152.5(GAA):c.631G>A (p.Val211Met) rs760995790
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) rs768596085
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) rs201286896
NM_000152.5(GAA):c.643G>T (p.Glu215Ter)
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) rs1567827215
NM_000152.5(GAA):c.654C>T (p.Phe218=) rs762830719
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036
NM_000152.5(GAA):c.663C>G (p.Ile221Met) rs142878958
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) rs2289537
NM_000152.5(GAA):c.682G>A (p.Gly228Ser) rs747150907
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432
NM_000152.5(GAA):c.686G>C (p.Arg229Pro) rs776509432
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
NM_000152.5(GAA):c.692+5G>T rs763027848
NM_000152.5(GAA):c.692+9T>C rs367661167
NM_000152.5(GAA):c.693-4G>A rs200088236
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.693-5C>T rs763538104
NM_000152.5(GAA):c.693-5del rs1555599563
NM_000152.5(GAA):c.69C>T (p.Thr23=) rs746351336
NM_000152.5(GAA):c.704C>T (p.Thr235Met) rs752950890
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.715C>T (p.Leu239=) rs778882374
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.737T>G (p.Leu246Arg) rs1555599608
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298
NM_000152.5(GAA):c.747C>T (p.Ser249=) rs1555599614
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.754C>T (p.Leu252=) rs1598575013
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) rs1169157671
NM_000152.5(GAA):c.759del (p.Ser254fs)
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093
NM_000152.5(GAA):c.765G>A (p.Gln255=) rs1450999199
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) rs149761650
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) rs1385098269
NM_000152.5(GAA):c.780C>T (p.Leu260=) rs372614893
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.787C>T (p.His263Tyr) rs1555599660
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
NM_000152.5(GAA):c.798C>G (p.Pro266=) rs1598575210
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs)
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.830C>T (p.Thr277Ile) rs1598575278
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830
NM_000152.5(GAA):c.851C>T (p.Ala284Val) rs147569830
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.855C>A (p.Pro285=) rs754080080
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
NM_000152.5(GAA):c.858+10C>A rs758283022
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+4C>G rs886042706
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC rs3071247
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962
NM_000152.5(GAA):c.859-3C>T rs1356743231
NM_000152.5(GAA):c.859C>T (p.Pro287Ser) rs369735511
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) rs769074720
NM_000152.5(GAA):c.866C>T (p.Ala289Val) rs145903608
NM_000152.5(GAA):c.867G>A (p.Ala289=) rs534515557
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945
NM_000152.5(GAA):c.883C>A (p.His295Asn)
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
NM_000152.5(GAA):c.906G>A (p.Glu302=) rs1488323868
NM_000152.5(GAA):c.909C>T (p.Asp303=) rs752724918
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384
NM_000152.5(GAA):c.912C>T (p.Gly304=)
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.918G>A (p.Ser306=) rs373276219
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212
NM_000152.5(GAA):c.924C>A (p.His308Gln) rs370105640
NM_000152.5(GAA):c.924C>T (p.His308=) rs370105640
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
NM_000152.5(GAA):c.936G>T (p.Leu312=) rs1456154347
NM_000152.5(GAA):c.93_95del (p.Leu32del) rs1278892703
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.956-8C>A
NM_000152.5(GAA):c.966G>A (p.Leu322=) rs1197362128
NM_000152.5(GAA):c.969G>T (p.Gln323His) rs1266693289
NM_000152.5(GAA):c.96C>G (p.Leu32=) rs1598569164
NM_000152.5(GAA):c.972G>A (p.Pro324=) rs763445243
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) rs1555599956
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000152.5(GAA):c.999A>G (p.Thr333=) rs1598576668

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