ClinVar Miner

List of variants in gene GAA reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 465
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HGVS dbSNP
NC_000017.10:g.(?_78078341)_(78093140_?)dup
NC_000017.10:g.(?_78078341)_(78093150_?)dup
NM_000152.5(GAA):c.*128T>C rs886053549
NM_000152.5(GAA):c.*288G>T rs568131293
NM_000152.5(GAA):c.*309C>T rs886053550
NM_000152.5(GAA):c.*443G>A rs147801821
NM_000152.5(GAA):c.*521A>G rs142506588
NM_000152.5(GAA):c.*98A>T rs886053548
NM_000152.5(GAA):c.-236C>T rs886053541
NM_000152.5(GAA):c.-312C>T rs574326920
NM_000152.5(GAA):c.-32-18C>G rs771367579
NM_000152.5(GAA):c.-62A>C rs367731841
NM_000152.5(GAA):c.1000G>T (p.Gly334Cys) rs886042960
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.5(GAA):c.1053G>T (p.Val351=) rs773063199
NM_000152.5(GAA):c.1075+12T>G rs370842677
NM_000152.5(GAA):c.1075+4G>A rs754290055
NM_000152.5(GAA):c.1075+9T>C rs751918816
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
NM_000152.5(GAA):c.1103G>T (p.Gly368Val)
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)
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser) rs752002666
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
NM_000152.5(GAA):c.116C>T (p.Pro39Leu) rs1567825457
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) rs756126944
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192C>T (p.Leu398=) rs369707231
NM_000152.5(GAA):c.1194+3G>C rs368539333
NM_000152.5(GAA):c.1194+6T>C rs1470004759
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1195-4G>T rs886042626
NM_000152.5(GAA):c.1195-8G>A rs1194778188
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
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.1211A>T (p.Asp404Val) rs886042961
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) rs372799904
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu) rs886042630
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu) rs1555600194
NM_000152.5(GAA):c.1257_1289del (p.Asp419_Gln429del) rs1567830839
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=)
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) rs1555600212
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) rs201463496
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652
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>C (p.Met440Ile) rs550837627
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.1336_1356dup (p.Ile446_Ala452dup) rs1555600488
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) rs145712232
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942
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.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.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1381G>A (p.Gly461Ser) rs1567832058
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp) rs199748889
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545
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.1402A>T (p.Ile468Phe) rs886043148
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
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>A (p.Gly473Asp)
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)
NM_000152.5(GAA):c.1431T>G (p.Ile477Met)
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1437+8G>A rs779194427
NM_000152.5(GAA):c.1438-15_1438-1del rs1567832762
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1439T>C (p.Val480Ala)
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-14_1552-1del rs1567833173
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271
NM_000152.5(GAA):c.1572C>A (p.Asn524Lys) rs1417304813
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) rs794727016
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg)
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) rs368568190
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu)
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
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.1637G>T (p.Gly546Val) rs886043918
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1661C>T (p.Ala554Val) rs772260861
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308
NM_000152.5(GAA):c.1712T>C (p.Leu571Pro) rs886042498
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.1727G>A (p.Gly576Asp) rs1555601255
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+6G>C
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro) rs775450536
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203
NM_000152.5(GAA):c.17C>A (p.Pro6Gln)
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) rs771409180
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) rs940955642
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup) rs1555601409
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.5(GAA):c.1835A>C (p.His612Pro)
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.1848C>T (p.Asp616=) rs377175810
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395
NM_000152.5(GAA):c.1851G>A (p.Val617=) rs886042906
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
NM_000152.5(GAA):c.1882G>A (p.Val628Met)
NM_000152.5(GAA):c.1882G>T (p.Val628Leu) rs745911962
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu) rs746961289
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.1888+5G>T rs528282884
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.18G>A (p.Pro6=)
NM_000152.5(GAA):c.18G>C (p.Pro6=)
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1930G>C (p.Ala644Pro) rs752735168
NM_000152.5(GAA):c.1943G>T (p.Gly648Val)
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu)
NM_000152.5(GAA):c.1947C>T (p.Phe649=) 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>T (p.Gly651Val) rs939350425
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly) rs1269689890
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr)
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) rs916566117
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln) rs886053546
NM_000152.5(GAA):c.2040+4G>C
NM_000152.5(GAA):c.2040+7T>G rs1555601667
NM_000152.5(GAA):c.2041-4G>T rs775757700
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.2052G>C (p.Pro684=)
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del) rs1555601721
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys)
NM_000152.5(GAA):c.205C>G (p.Gln69Glu)
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.2092G>A (p.Ala698Thr) rs367632754
NM_000152.5(GAA):c.209C>A (p.Ala70Glu)
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2122C>A (p.His708Asn)
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.2132C>G (p.Thr711Arg) rs759292700
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) rs1332887976
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.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)
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)
NM_000152.5(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) rs1290010789
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) rs1232306443
NM_000152.5(GAA):c.2190-10C>A rs1567838707
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
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.2221G>A (p.Asp741Asn)
NM_000152.5(GAA):c.2222A>T (p.Asp741Val) rs886044665
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) rs767773929
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) rs1347832021
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.223C>T (p.Pro75Ser)
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222
NM_000152.5(GAA):c.224C>G (p.Pro75Arg) rs1555598675
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.5(GAA):c.2256C>T (p.Ile752=) rs1246868347
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) rs138183791
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984
NM_000152.5(GAA):c.229G>T (p.Ala77Ser)
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382
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=)
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2361A>C (p.Pro787=) rs1555602853
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala) rs201485261
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
NM_000152.5(GAA):c.2383G>A (p.Glu795Lys) rs886043882
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr)
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534
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.2423C>T (p.Pro808Leu) rs773498009
NM_000152.5(GAA):c.2427C>G (p.Ala809=) rs766325117
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)
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.2474C>G (p.Pro825Arg) rs886042703
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.2481+128A>G rs760656694
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2481+5C>G
NM_000152.5(GAA):c.2481+6T>C rs1479232207
NM_000152.5(GAA):c.2482-5T>C rs1290870969
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg)
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) rs1555603057
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) rs752421149
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
NM_000152.5(GAA):c.2510G>A (p.Arg837His) rs746095374
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys)
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513
NM_000152.5(GAA):c.2523G>C (p.Met841Ile) rs1555603087
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg) rs1555603096
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg) rs1555603113
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)
NM_000152.5(GAA):c.25T>C (p.Ser9Pro) rs886042671
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln) rs747076541
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
NM_000152.5(GAA):c.2647-20T>G rs1555603208
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2656G>A (p.Val886Met) rs372802420
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892
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)
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu)
NM_000152.5(GAA):c.2712G>A (p.Val904=) rs886043848
NM_000152.5(GAA):c.271_272delinsAG (p.Asp91Ser) rs797044668
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.2744A>C (p.Gln915Pro) rs1555603272
NM_000152.5(GAA):c.2746G>T (p.Val916Phe) rs1221948995
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) rs773667152
NM_000152.5(GAA):c.2757del (p.Asn919fs) rs1555603283
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.2776T>C (p.Phe926Leu) rs1555603301
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) rs142481170
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr)
NM_000152.5(GAA):c.2799+2C>T rs1555603318
NM_000152.5(GAA):c.2799+4A>G rs778032599
NM_000152.5(GAA):c.2800-11C>G rs374571499
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet) rs1555603411
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.2853G>A (p.Trp951Ter) rs1555603436
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp) rs958648168
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr) rs1334316018
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178
NM_000152.5(GAA):c.309C>T (p.Cys103=)
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
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.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) rs754285414
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
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.370C>G (p.Gln124Glu) rs1291571294
NM_000152.5(GAA):c.391_399CCCAGCTAC[3] (p.131_133PSY[3]) rs1555598846
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.421C>A (p.Leu141Met) rs1379595858
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673
NM_000152.5(GAA):c.43G>A (p.Val15Ile)
NM_000152.5(GAA):c.444C>T (p.Tyr148=) rs886043112
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.448G>A (p.Ala150Thr)
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) rs1567826289
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.468C>T (p.Thr156=) rs145849611
NM_000152.5(GAA):c.487G>A (p.Asp163Asn)
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) rs751425831
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.5(GAA):c.503G>C (p.Arg168Pro)
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)
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
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.534C>G (p.Arg178=) rs765613378
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+8G>A rs200107080
NM_000152.5(GAA):c.54C>T (p.Leu18=) rs886053542
NM_000152.5(GAA):c.55G>A (p.Val19Met)
NM_000152.5(GAA):c.566G>A (p.Arg189Lys)
NM_000152.5(GAA):c.568C>T (p.Arg190Cys)
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446
NM_000152.5(GAA):c.59C>G (p.Ser20Cys) rs752449306
NM_000152.5(GAA):c.5G>C (p.Gly2Ala) rs1245992455
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.614C>T (p.Pro205Leu) rs775065551
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808
NM_000152.5(GAA):c.625T>C (p.Tyr209His)
NM_000152.5(GAA):c.631G>A (p.Val211Met)
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del) rs1555599099
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) rs768596085
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) rs1567827215
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.667C>T (p.Arg223Cys) rs886043961
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
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)
NM_000152.5(GAA):c.686G>C (p.Arg229Pro)
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
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>T rs200088236
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511
NM_000152.5(GAA):c.704C>T (p.Thr235Met)
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.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
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.737T>G (p.Leu246Arg) rs1555599608
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298
NM_000152.5(GAA):c.74C>T (p.Ala25Val) rs768867363
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) rs1169157671
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) rs1385098269
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994
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.830C>T (p.Thr277Ile)
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.5(GAA):c.83G>T (p.Gly28Val) rs886042598
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830
NM_000152.5(GAA):c.851C>T (p.Ala284Val)
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.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+8insAGCGGGCGGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC rs3071247
NM_000152.5(GAA):c.858G>A (p.Thr286=)
NM_000152.5(GAA):c.859-3C>T
NM_000152.5(GAA):c.859C>T (p.Pro287Ser)
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.868A>G (p.Asn290Asp) rs552929702
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.900G>A (p.Ala300=)
NM_000152.5(GAA):c.906G>A (p.Glu302=) rs1488323868
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384
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=)
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212
NM_000152.5(GAA):c.924C>A (p.His308Gln)
NM_000152.5(GAA):c.927G>A (p.Gly309=) rs886043779
NM_000152.5(GAA):c.93_95del (p.Leu32del) rs1278892703
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506
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.955+14C>A rs756921041
NM_000152.5(GAA):c.969G>T (p.Gln323His) rs1266693289
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) rs1555599956
NM_000152.5(GAA):c.993G>A (p.Arg331=) rs749831587
NM_001079803.3(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_001079803.3(GAA):c.2380C>G (p.Arg794Gly) rs367779589

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