ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease, type II

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 466
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
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.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.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 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.1409A>C (p.Asn470Thr) rs144155165 0.00005
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.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 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.1129G>C (p.Gly377Arg) rs752002666 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) rs763301606 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.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 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.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
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.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.1402A>T (p.Ile468Phe) rs886043148 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.1564C>T (p.Pro522Ser) rs892129065 0.00001
NM_000152.5(GAA):c.1585T>G (p.Ser529Ala) rs1598582021 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 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.1754G>A (p.Arg585Lys) rs747373179 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.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.1943G>A (p.Gly648Asp) rs1448515860 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.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2189+1G>T rs1209887739 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.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 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.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 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.743T>C (p.Leu248Pro) rs1443844938 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 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
NM_000152.5(GAA):c.952A>T (p.Met318Leu) rs886044506 0.00001
NC_000017.10:g.(?_78086381)_(78091497_?)del
NC_000017.11:g.(?_80107537)_(80113386_?)del
NC_000017.11:g.80114186_80114187ins[80114172_80114186;NC_000020.11:g.2823027_2826302;AAA]
NM_000152.5(GAA):c.-32-17_-32-10delinsTCCCTGCTGAGCCTCCTACAGGCCTCCCGC
NM_000152.5(GAA):c.-32-1G>C rs1555598460
NM_000152.5(GAA):c.-32-2A>G rs1445232530
NM_000152.5(GAA):c.-32-3C>A rs1055945806
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.1003G>T (p.Gly335Trp) rs202095215
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1075+1G>A
NM_000152.5(GAA):c.1075+1G>T
NM_000152.5(GAA):c.1075+2T>A rs2143853890
NM_000152.5(GAA):c.1075+2T>C
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.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1099del (p.Trp367fs) rs1057516785
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp) rs368244038
NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)
NM_000152.5(GAA):c.1111_1115delinsCCACTGGGG (p.Phe371fs)
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1117del (p.Leu373fs)
NM_000152.5(GAA):c.1123C>A (p.Arg375Ser)
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.1130del (p.Gly377fs) rs754134578
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+2T>C rs1057516215
NM_000152.5(GAA):c.1194+2T>G
NM_000152.5(GAA):c.1194+5G>A rs2039153749
NM_000152.5(GAA):c.1195-1G>A rs1555600166
NM_000152.5(GAA):c.1195-2A>C rs765360653
NM_000152.5(GAA):c.1195-2A>G rs765360653
NM_000152.5(GAA):c.1205G>A (p.Trp402Ter)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1220A>G (p.Tyr407Cys)
NM_000152.5(GAA):c.1223T>C (p.Met408Thr)
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
NM_000152.5(GAA):c.1291_1299del (p.Leu431_Gln433del)
NM_000152.5(GAA):c.1309C>A (p.Arg437Ser)
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1326+2T>C rs1434761678
NM_000152.5(GAA):c.1327-58_1352del
NM_000152.5(GAA):c.133del (p.Ser45fs)
NM_000152.5(GAA):c.1369C>T (p.Pro457Ser)
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1376A>T (p.Asp459Val) rs2143866303
NM_000152.5(GAA):c.1377dup (p.Glu460fs) rs2039192386
NM_000152.5(GAA):c.1396G>T (p.Val466Phe)
NM_000152.5(GAA):c.1400T>C (p.Phe467Ser)
NM_000152.5(GAA):c.1407del (p.Asn470fs)
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1437G>C (p.Lys479Asn)
NM_000152.5(GAA):c.1438-1G>A
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.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1456G>C (p.Ala486Pro)
NM_000152.5(GAA):c.1456G>T (p.Ala486Ser)
NM_000152.5(GAA):c.1463C>T (p.Pro488Leu) rs2143872219
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1466A>G (p.Asp489Gly)
NM_000152.5(GAA):c.1477C>T (p.Pro493Ser)
NM_000152.5(GAA):c.1494del (p.Trp498fs)
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1525C>T (p.Gln509Ter)
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) rs1598581682
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter) rs2039217093
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1555A>G (p.Met519Val) rs1598581919
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.1565C>T (p.Pro522Leu) rs2143874287
NM_000152.5(GAA):c.1567del (p.Ser523fs) rs1057517267
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) rs1291214871
NM_000152.5(GAA):c.1579del (p.Arg527fs) rs2039222879
NM_000152.5(GAA):c.1583G>C (p.Gly528Ala) rs794727016
NM_000152.5(GAA):c.1583G>T (p.Gly528Val)
NM_000152.5(GAA):c.1589_1598del (p.Glu530fs)
NM_000152.5(GAA):c.1602_1605delinsAGG (p.Asn535fs) rs2143874754
NM_000152.5(GAA):c.1621_1622del (p.Pro541fs)
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser) rs2143875175
NM_000152.5(GAA):c.1636+1G>A
NM_000152.5(GAA):c.1646G>A (p.Gly549Glu)
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1654C>T (p.Leu552Phe)
NM_000152.5(GAA):c.1663G>C (p.Ala555Pro)
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1670T>G (p.Ile557Ser) rs1408164312
NM_000152.5(GAA):c.1673G>A (p.Cys558Tyr)
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1707C>G (p.Tyr569Ter)
NM_000152.5(GAA):c.1709A>G (p.Asn570Ser)
NM_000152.5(GAA):c.1714C>T (p.His572Tyr)
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1721T>C (p.Leu574Pro)
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1754+1_1754+7del rs2039250790
NM_000152.5(GAA):c.1755-1G>A rs2039261208
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
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.1798C>G (p.Arg600Gly) rs764670084
NM_000152.5(GAA):c.1798del (p.Arg600fs)
NM_000152.5(GAA):c.1799G>T (p.Arg600Leu)
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1804A>G (p.Thr602Ala) rs781484283
NM_000152.5(GAA):c.1809del (p.Phe603fs) rs2143888280
NM_000152.5(GAA):c.1814del (p.Gly605fs)
NM_000152.5(GAA):c.1819G>T (p.Gly607Cys)
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1836C>G (p.His612Gln) rs768397968
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.1846G>T (p.Asp616Tyr)
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1848C>A (p.Asp616Glu)
NM_000152.5(GAA):c.1855A>G (p.Ser619Gly)
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.1874_1882del (p.Ala625_Ser627del)
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1905C>G (p.Asn635Lys)
NM_000152.5(GAA):c.1913G>A (p.Gly638Glu)
NM_000152.5(GAA):c.1924G>T (p.Val642Phe)
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp) rs28937909
NM_000152.5(GAA):c.1928G>C (p.Gly643Ala)
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000152.5(GAA):c.1930del (p.Ala644fs)
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.1940G>A (p.Cys647Tyr)
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1942G>T (p.Gly648Cys)
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) rs1448515860
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) rs1057518106
NM_000152.5(GAA):c.1966del (p.Glu656fs)
NM_000152.5(GAA):c.1978C>G (p.Arg660Gly)
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
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.2003_2013dup (p.Arg672fs)
NM_000152.5(GAA):c.2014C>G (p.Arg672Gly)
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1del rs1555601662
NM_000152.5(GAA):c.2040+2T>G
NM_000152.5(GAA):c.2040G>A (p.Leu680=) rs2039280842
NM_000152.5(GAA):c.2041-1G>A rs760731229
NM_000152.5(GAA):c.2045delinsCG (p.Gln682fs)
NM_000152.5(GAA):c.2047G>T (p.Glu683Ter)
NM_000152.5(GAA):c.2061del (p.Phe687fs) rs1064796706
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000152.5(GAA):c.2088del (p.Lys697fs)
NM_000152.5(GAA):c.2095dup (p.Leu699fs) rs2143895928
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2122del (p.His708fs)
NM_000152.5(GAA):c.2122dup (p.His708fs)
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter) rs2039289942
NM_000152.5(GAA):c.2131A>C (p.Thr711Pro) rs2143896492
NM_000152.5(GAA):c.2131A>G (p.Thr711Ala) rs2143896492
NM_000152.5(GAA):c.2131A>T (p.Thr711Ser)
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
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.2161dup (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.2174G>T (p.Arg725Leu)
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2189+2T>A
NM_000152.5(GAA):c.2189+3G>C rs2143897458
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn) rs1381005435
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.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>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.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.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) rs1292367136
NM_000152.5(GAA):c.2296T>C (p.Tyr766His)
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2303C>G (p.Pro768Arg)
NM_000152.5(GAA):c.2303C>T (p.Pro768Leu)
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
NM_000152.5(GAA):c.2326C>T (p.Gln776Ter)
NM_000152.5(GAA):c.2331+1G>C
NM_000152.5(GAA):c.2331+2_2331+3del
NM_000152.5(GAA):c.2331+4A>G
NM_000152.5(GAA):c.2332-1G>A
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.2332-2A>G rs112098197
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2395del (p.His799fs)
NM_000152.5(GAA):c.2402del (p.Glu801fs)
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2456G>C (p.Arg819Pro) rs374687883
NM_000152.5(GAA):c.2476del (p.Leu826fs)
NM_000152.5(GAA):c.2481+1G>A
NM_000152.5(GAA):c.2481+1G>T
NM_000152.5(GAA):c.2482-1G>T
NM_000152.5(GAA):c.2483del
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.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter) rs2039403673
NM_000152.5(GAA):c.2553_2554delinsAT (p.Glu852Ter)
NM_000152.5(GAA):c.2563G>C (p.Gly855Arg)
NM_000152.5(GAA):c.2585del (p.Gly862fs)
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2617dup (p.Tyr873fs) rs1555603131
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter) rs1555603132
NM_000152.5(GAA):c.2642_2643delinsC (p.Arg881fs)
NM_000152.5(GAA):c.2644_2645insT (p.Asn882fs)
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2647-1_2648del rs1555603216
NM_000152.5(GAA):c.2647-2A>G
NM_000152.5(GAA):c.2655_2656delinsT (p.Ile885_Val886insTer)
NM_000152.5(GAA):c.265C>A (p.Arg89Ser)
NM_000152.5(GAA):c.266G>T (p.Arg89Leu)
NM_000152.5(GAA):c.2672del (p.Arg891fs)
NM_000152.5(GAA):c.2701del (p.Leu901fs)
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2723del (p.Gly908fs)
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2772del (p.Asn925fs)
NM_000152.5(GAA):c.2782T>C (p.Tyr928His) rs2143934702
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.2799+2C>G
NM_000152.5(GAA):c.2812del (p.Cys938fs)
NM_000152.5(GAA):c.282del (p.Asp95fs) rs2143826963
NM_000152.5(GAA):c.2853del (p.Trp951fs) rs1555603434
NM_000152.5(GAA):c.307T>C (p.Cys103Arg) rs398123174
NM_000152.5(GAA):c.308G>A (p.Cys103Tyr) rs2143827215
NM_000152.5(GAA):c.316C>G (p.Arg106Gly) rs915675670
NM_000152.5(GAA):c.323G>A (p.Cys108Tyr)
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.370C>T (p.Gln124Ter)
NM_000152.5(GAA):c.371_381del (p.Gln124fs)
NM_000152.5(GAA):c.376del (p.Trp126fs) rs1555598824
NM_000152.5(GAA):c.389del (p.Pro130fs)
NM_000152.5(GAA):c.393del (p.Ser132fs) rs1057517381
NM_000152.5(GAA):c.396dup (p.Tyr133fs)
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.3G>T (p.Met1Ile)
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.448dup (p.Ala150fs) rs1555598880
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.461G>C (p.Arg154Pro) rs781124934
NM_000152.5(GAA):c.461_469del (p.Arg154_Thr156del) rs2039044722
NM_000152.5(GAA):c.465dup (p.Thr156fs)
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.490_524del (p.Asp163_Ile164insTer)
NM_000152.5(GAA):c.498_510del (p.Thr166_Leu167insTer)
NM_000152.5(GAA):c.4G>T (p.Gly2Ter) rs1567825175
NM_000152.5(GAA):c.511del (p.Asp170_Val171insTer) rs2143829478
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546+2T>C
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.55del (p.Val19fs) rs1555598544
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
NM_000152.5(GAA):c.656G>A (p.Gly219Glu)
NM_000152.5(GAA):c.671G>C (p.Arg224Pro) rs200210219
NM_000152.5(GAA):c.671G>T (p.Arg224Leu)
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.693-1G>C rs2143845687
NM_000152.5(GAA):c.693-2A>C
NM_000152.5(GAA):c.700A>G (p.Thr234Ala)
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.715_716del (p.Leu239fs)
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.729C>A (p.Asp243Glu)
NM_000152.5(GAA):c.732G>C (p.Gln244His) rs1178922366
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) rs1555599637
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
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.829_830del (p.Thr277fs)
NM_000152.5(GAA):c.836G>A (p.Trp279Ter) rs2039122730
NM_000152.5(GAA):c.844G>C (p.Asp282His)
NM_000152.5(GAA):c.84dup (p.His29fs)
NM_000152.5(GAA):c.858+1G>A
NM_000152.5(GAA):c.858+2T>A rs1555599713
NM_000152.5(GAA):c.859-1G>C
NM_000152.5(GAA):c.859-2A>G rs2143848897
NM_000152.5(GAA):c.873_874del (p.Tyr292fs)
NM_000152.5(GAA):c.874T>C (p.Tyr292His)
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.904G>T (p.Glu302Ter) rs2039131123
NM_000152.5(GAA):c.917C>A (p.Ser306Ter) rs138097673
NM_000152.5(GAA):c.922C>G (p.His308Asp)
NM_000152.5(GAA):c.925G>T (p.Gly309Trp)
NM_000152.5(GAA):c.935del (p.Leu312fs)
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000152.5(GAA):c.955+1del
NM_000152.5(GAA):c.956-5_957del
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000152.5(GAA):c.990G>C (p.Trp330Cys)
NM_006218.4(PIK3CA):c.2075del (p.Cys692fs) rs1724954436

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