ClinVar Miner

List of variants in gene GAA reported as pathogenic for Glycogen storage disease, type II

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 478
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) rs752735168 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1076-1G>C rs1555600050 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly) rs886042961 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1610del (p.Glu537fs) rs762060817 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475 0.00001
NM_000152.5(GAA):c.1754+1G>A rs886043399 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met) rs752054011 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del
NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del
NC_000017.10:g.(?_78079696)_(78082725_?)del
NC_000017.10:g.(?_78082476)_(78090745_?)del
NC_000017.10:g.(?_78082486)_(78087175_?)del
NC_000017.10:g.(?_78084516)_(78084834_?)del
NC_000017.10:g.(?_78085283)_(78092476_?)del
NC_000017.10:g.(?_78086997)_(78087185_?)del
NC_000017.10:g.(?_78090747)_(78093130_?)del
NC_000017.10:g.(?_78090757)_(78092614_?)del
NC_000017.10:g.(?_78090799)_(78093893_?)del
NC_000017.10:g.(?_78091379)_(78093130_?)del
NC_000017.10:g.(?_78091652)_78092189del
NC_000017.10:g.(?_78091972)_(78092176_?)del
NC_000017.10:g.(?_78092582)_(78096154_?)del
NC_000017.11:g.(?_80104542)_(80105914_?)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_000152.5(GAA):c.-32-2A>G rs1445232530
NM_000152.5(GAA):c.-32-385_143del
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) rs886042960
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) rs2039143109
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)
NM_000152.5(GAA):c.1057del (p.Gln353fs) rs2143853690
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.5(GAA):c.1082dup (p.Phe362fs) rs2143854537
NM_000152.5(GAA):c.1091del (p.Pro364fs) rs2143854659
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter) rs1478500490
NM_000152.5(GAA):c.1105dup (p.Leu369fs)
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
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.1134C>A (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1153del (p.Arg385fs) rs1555600102
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1192del (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro) rs1598577666
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1195-19_2190-17del
NM_000152.5(GAA):c.1198del (p.Val400fs)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1225dup (p.Asp409fs) rs2039157751
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs) rs1598578030
NM_000152.5(GAA):c.1241del (p.Phe414fs)
NM_000152.5(GAA):c.1274del (p.Pro425fs)
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs)
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs) rs2143858151
NM_000152.5(GAA):c.1308del (p.Arg437fs) rs2143858305
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)
NM_000152.5(GAA):c.1336dup (p.Ile446fs) rs2143865725
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs) rs2039190879
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs)
NM_000152.5(GAA):c.1356del (p.Ser454fs) rs2039191420
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer)
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn) rs2143866239
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.1376_1377del (p.Asp459fs) rs2143866321
NM_000152.5(GAA):c.1377dup (p.Glu460fs) rs2039192386
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro) rs2143866454
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro) rs2039192921
NM_000152.5(GAA):c.1396del (p.Val466fs) rs1273392818
NM_000152.5(GAA):c.1396dup (p.Val466fs)
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs) rs2039195145
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437+2T>C rs1598580407
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
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.1441T>A (p.Trp481Arg)
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter) rs2143871845
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1464dup (p.Asp489fs) rs2039213824
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.148G>T (p.Glu50Ter) rs1555598609
NM_000152.5(GAA):c.148_859-11del
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1519dup (p.His507fs) rs2039216097
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) rs1598581682
NM_000152.5(GAA):c.1551+1G>A rs770780848
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1555A>G (p.Met519Val) rs1598581919
NM_000152.5(GAA):c.1557G>A (p.Met519Ile) rs1447365901
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs) rs2143874124
NM_000152.5(GAA):c.1559A>T (p.Asn520Ile)
NM_000152.5(GAA):c.1559del (p.Asn520fs) rs2143874154
NM_000152.5(GAA):c.1560del (p.Asn520fs)
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)
NM_000152.5(GAA):c.1561del (p.Glu521fs)
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.156_157del (p.His53fs)
NM_000152.5(GAA):c.1575dup (p.Ile526fs) rs2143874398
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) rs1291214871
NM_000152.5(GAA):c.1579del (p.Arg527fs) rs2039222879
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) rs1598582021
NM_000152.5(GAA):c.1587del (p.Glu530fs)
NM_000152.5(GAA):c.1589del (p.Glu530fs)
NM_000152.5(GAA):c.1636+460_2672del
NM_000152.5(GAA):c.1637-2A>G rs2143882034
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
NM_000152.5(GAA):c.1650del (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)
NM_000152.5(GAA):c.1654del (p.Leu552fs) rs2039246615
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs) rs2143882664
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs)
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1703A>G (p.His568Arg)
NM_000152.5(GAA):c.1703A>T (p.His568Leu) rs2143882997
NM_000152.5(GAA):c.1704dup (p.Tyr569fs) rs2143883054
NM_000152.5(GAA):c.1705dup (p.Tyr569fs) rs2143883097
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter) rs112517802
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1754+2T>A
NM_000152.5(GAA):c.1754+2T>C
NM_000152.5(GAA):c.1755-1G>A rs2039261208
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs) rs2039261436
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1809del (p.Phe603fs) rs2143888280
NM_000152.5(GAA):c.1819_1836del (p.Gly607_His612del)
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
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.1844G>A (p.Gly615Glu) rs1243515778
NM_000152.5(GAA):c.1844G>T (p.Gly615Val) rs1243515778
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn) rs796161389
NM_000152.5(GAA):c.1846del (p.Asp616fs) rs1249187013
NM_000152.5(GAA):c.1846dup (p.Asp616fs) rs1249187013
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1848dup (p.Val617fs)
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg) rs1598585402
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del) rs2039275157
NM_000152.5(GAA):c.1913G>T (p.Gly638Val) rs1294428728
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
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.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1937del (p.Val646fs)
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs)
NM_000152.5(GAA):c.1976_1977del (p.Val659fs) rs2143892473
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter) rs2143892654
NM_000152.5(GAA):c.1987del (p.Gln663fs) rs2143892615
NM_000152.5(GAA):c.1996dup (p.Ala666fs)
NM_000152.5(GAA):c.199del (p.Asp67fs) rs2143825870
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.1A>T (p.Met1Leu) rs786204467
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter)
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1G>C rs1057516928
NM_000152.5(GAA):c.2040+2T>G
NM_000152.5(GAA):c.2041-1G>A rs760731229
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) rs398123171
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter) rs2039287628
NM_000152.5(GAA):c.2078dup (p.Ala694fs) rs730880372
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs)
NM_000152.5(GAA):c.2095dup (p.Leu699fs) rs2143895928
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter) rs150728610
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)
NM_000152.5(GAA):c.2122del (p.His708fs)
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) rs1275298143
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter) rs140376273
NM_000152.5(GAA):c.2161del (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal) rs2039292050
NM_000152.5(GAA):c.2173del (p.Arg725fs) rs2039292320
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter) rs1555601828
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) rs2039364779
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) rs1567838823
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
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.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys)
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2261dup (p.Val755fs) rs1555602648
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter) rs760063214
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs) rs2143920189
NM_000152.5(GAA):c.2314del (p.Trp772fs)
NM_000152.5(GAA):c.2320dup (p.Asp774fs)
NM_000152.5(GAA):c.2331+1G>A
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
NM_000152.5(GAA):c.2380del (p.Arg794fs) rs2143924649
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2385del (p.Glu795fs) rs2143924790
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) rs763048948
NM_000152.5(GAA):c.2411G>A (p.Trp804Ter) rs2143925134
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.242del (p.Gln81fs)
NM_000152.5(GAA):c.2431dup (p.Leu811fs) rs2143925402
NM_000152.5(GAA):c.2432del (p.Leu811fs) rs766560578
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn) rs1433117170
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro) rs374687883
NM_000152.5(GAA):c.246C>A (p.Cys82Ter) rs749584846
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs) rs2143926009
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2502dup (p.Glu835fs)
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter) rs2143930800
NM_000152.5(GAA):c.2646+1G>A rs2143931061
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2646+2T>G
NM_000152.5(GAA):c.2655_2656del (p.Val886fs) rs1555603219
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln)
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) rs1057516189
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) rs121907939
NM_000152.5(GAA):c.2734del (p.Ala912fs)
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.2740dup (p.Gln914fs) rs745427943
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.282del (p.Asp95fs) rs2143826963
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)
NM_000152.5(GAA):c.2T>C (p.Met1Thr) rs2039024047
NM_000152.5(GAA):c.304C>T (p.Gln102Ter) rs1432841878
NM_000152.5(GAA):c.309C>A (p.Cys103Ter) rs373307393
NM_000152.5(GAA):c.309C>G (p.Cys103Trp) rs373307393
NM_000152.5(GAA):c.322T>A (p.Cys108Ser) rs2039038743
NM_000152.5(GAA):c.340_341insT (p.Lys114fs) rs2143827701
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.355G>T (p.Gly119Ter) rs1555598802
NM_000152.5(GAA):c.361C>T (p.Gln121Ter) rs750668627
NM_000152.5(GAA):c.377G>A (p.Trp126Ter) rs1011631903
NM_000152.5(GAA):c.378G>A (p.Trp126Ter) rs2039041225
NM_000152.5(GAA):c.379_380del (p.Cys127fs) rs1207988953
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter) rs2039042313
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.40_47del (p.Ala14fs)
NM_000152.5(GAA):c.424_440del (p.Ser142fs)
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter) rs886043112
NM_000152.5(GAA):c.456_457dup (p.Thr153fs) rs2143829023
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.520_526del (p.Glu174fs)
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.528_529del (p.Asn177fs) rs2143829649
NM_000152.5(GAA):c.546+1G>T
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.547-1G>C rs2143833579
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.584T>A (p.Leu195Ter)
NM_000152.5(GAA):c.587del (p.Glu196fs)
NM_000152.5(GAA):c.639del (p.Ser214fs) rs2143834462
NM_000152.5(GAA):c.643G>T (p.Glu215Ter) rs201286896
NM_000152.5(GAA):c.658dup (p.Val220fs) rs2143834640
NM_000152.5(GAA):c.683dup (p.Arg229fs) rs2143834983
NM_000152.5(GAA):c.692+1G>A rs773281453
NM_000152.5(GAA):c.692+1G>C rs773281453
NM_000152.5(GAA):c.692+1G>T
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.722_723del (p.Phe241fs) rs2039116471
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs)
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.759del (p.Ser254fs) rs2039117815
NM_000152.5(GAA):c.763C>T (p.Gln255Ter) rs2039118159
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs) rs2039120342
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.827_845del (p.Ile276fs) rs2143847172
NM_000152.5(GAA):c.844G>C (p.Asp282His)
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.856del (p.Thr286fs)
NM_000152.5(GAA):c.859-2A>G rs2143848897
NM_000152.5(GAA):c.872T>C (p.Leu291Pro) rs2143849151
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) rs763216519
NM_000152.5(GAA):c.889_890insG (p.Phe297fs)
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.923A>C (p.His308Pro) rs2143849751
NM_000152.5(GAA):c.930del (p.Phe311fs)
NM_000152.5(GAA):c.934del (p.Leu312fs) rs886042358
NM_000152.5(GAA):c.955+1G>A rs1403691329
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
NM_000152.5(GAA):c.971dup (p.Ser325fs) rs2143852733
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000152.5(GAA):c.[2228A>G;2237G>C]
NM_000152.5(GAA):c.[752C>T;761C>T]

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