ClinVar Miner

List of variants in gene PYGM studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 499
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HGVS dbSNP
NC_000011.10:g.(?_64746639)_(64747378_?)del
NC_000011.10:g.(?_64750356)_(64750603_?)del
NC_000011.10:g.(?_64750366)_(64750593_?)del
NC_000011.10:g.(?_64758226)_(64758724_?)del
NC_000011.10:g.(?_64758236)_(64758714_?)del
NC_000011.9:g.(?_64518138_64519390del
NC_000011.9:g.(?_64525241)_(64527380_?)del
NM_001164716.1(PYGM):c.-146C>A rs764403406
NM_001164716.1(PYGM):c.-234C>T rs886048466
NM_001164716.1(PYGM):c.-381T>C rs483962
NM_001164716.1(PYGM):c.-556C>G rs886048467
NM_001164716.1(PYGM):c.-668C>T rs886048468
NM_001164716.1(PYGM):c.-724C>G rs754685048
NM_001164716.1(PYGM):c.-789T>C rs143460923
NM_005609.4(PYGM):c.*80G>A
NM_005609.4(PYGM):c.-20C>T
NM_005609.4(PYGM):c.-23G>A rs886048465
NM_005609.4(PYGM):c.-76A>G
NM_005609.4(PYGM):c.1000-10C>T rs749114783
NM_005609.4(PYGM):c.1000-6C>T
NM_005609.4(PYGM):c.100C>A (p.Arg34=) rs531748591
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732
NM_005609.4(PYGM):c.1020C>T (p.Asp340=)
NM_005609.4(PYGM):c.1044C>T (p.Pro348=)
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_005609.4(PYGM):c.1059C>A (p.Ile353=)
NM_005609.4(PYGM):c.1060C>T (p.Leu354=)
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242
NM_005609.4(PYGM):c.1092+15C>T
NM_005609.4(PYGM):c.1092+1G>A rs749560316
NM_005609.4(PYGM):c.1092+1G>C
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1093-10C>T rs763253788
NM_005609.4(PYGM):c.1093-13dup
NM_005609.4(PYGM):c.1093-1G>T rs1163710370
NM_005609.4(PYGM):c.1093-5G>A rs745663647
NM_005609.4(PYGM):c.1093-9G>A
NM_005609.4(PYGM):c.1093-9G>C rs571244371
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1095G>A (p.Ala365=) rs1370804680
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040
NM_005609.4(PYGM):c.1113G>A (p.Arg371=)
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
NM_005609.4(PYGM):c.111T>C (p.His37=)
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala)
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.112_122del (p.Phe38fs)
NM_005609.4(PYGM):c.1137G>A (p.Thr379=)
NM_005609.4(PYGM):c.1143G>A (p.Leu381=) rs143401208
NM_005609.4(PYGM):c.1146C>T (p.Pro382=) rs767963946
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1159del (p.Arg387fs)
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs)
NM_005609.4(PYGM):c.1164G>C (p.Trp388Cys)
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro) rs759336535
NM_005609.4(PYGM):c.1176C>T (p.Leu392=)
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.4(PYGM):c.1185G>A (p.Thr395=)
NM_005609.4(PYGM):c.1187T>C (p.Leu396Pro) rs119103254
NM_005609.4(PYGM):c.1189C>T (p.Leu397=) rs1592411631
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln) rs548646628
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr)
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) rs371264447
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys)
NM_005609.4(PYGM):c.1218G>A (p.Glu406=)
NM_005609.4(PYGM):c.1224C>T (p.Asn408=)
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672
NM_005609.4(PYGM):c.1239+12G>A rs760471706
NM_005609.4(PYGM):c.1239+1G>A rs759657964
NM_005609.4(PYGM):c.1239+7C>T
NM_005609.4(PYGM):c.1239+8C>T rs886048461
NM_005609.4(PYGM):c.1239+9G>A rs374937711
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.1240-9T>C
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1245G>A (p.Val415=)
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val)
NM_005609.4(PYGM):c.1248G>A (p.Ala416=)
NM_005609.4(PYGM):c.1260A>T (p.Pro420=)
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) rs769602726
NM_005609.4(PYGM):c.1273C>A (p.Arg425=)
NM_005609.4(PYGM):c.1278G>A (p.Leu426=)
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1289C>T (p.Ser430Leu) rs1212604
NM_005609.4(PYGM):c.1290G>A (p.Ser430=)
NM_005609.4(PYGM):c.129_150del (p.Asp43fs)
NM_005609.4(PYGM):c.1305C>T (p.Gly435=)
NM_005609.4(PYGM):c.1308A>G (p.Ala436=)
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1323C>T (p.Asn441=)
NM_005609.4(PYGM):c.1333C>T (p.Leu445=)
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1341C>T (p.Ile447=)
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) rs370291854
NM_005609.4(PYGM):c.1344G>A (p.Ala448=)
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044
NM_005609.4(PYGM):c.1347G>T (p.Gly449=) rs141152121
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887
NM_005609.4(PYGM):c.1350G>T (p.Ser450=)
NM_005609.4(PYGM):c.1353C>T (p.His451=) rs377599118
NM_005609.4(PYGM):c.1353dup (p.Ala452fs)
NM_005609.4(PYGM):c.1356C>G (p.Ala452=) rs756953943
NM_005609.4(PYGM):c.1356C>T (p.Ala452=)
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile) rs151213354
NM_005609.4(PYGM):c.135T>C (p.Asn45=)
NM_005609.4(PYGM):c.1362C>T (p.Asn454=) rs375294505
NM_005609.4(PYGM):c.1365C>T (p.Gly455=) rs1056780
NM_005609.4(PYGM):c.1366G>A (p.Val456Met) rs398124208
NM_005609.4(PYGM):c.1371G>A (p.Ala457=) rs766082496
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val)
NM_005609.4(PYGM):c.1383C>T (p.Ser461=)
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)
NM_005609.4(PYGM):c.138G>A (p.Val46=)
NM_005609.4(PYGM):c.1395G>A (p.Lys465=) rs555057489
NM_005609.4(PYGM):c.13_14del (p.Leu5fs) rs772194378
NM_005609.4(PYGM):c.1403+1G>A
NM_005609.4(PYGM):c.1403+5G>A
NM_005609.4(PYGM):c.1403+7C>T
NM_005609.4(PYGM):c.1431T>A (p.Pro477=)
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282
NM_005609.4(PYGM):c.1437G>A (p.Lys479=)
NM_005609.4(PYGM):c.1455C>T (p.Asn485=)
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn) rs1555134900
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209
NM_005609.4(PYGM):c.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1477del (p.Leu493fs)
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)
NM_005609.4(PYGM):c.1507del (p.Val503fs)
NM_005609.4(PYGM):c.1518+9C>G
NM_005609.4(PYGM):c.1519-4A>G
NM_005609.4(PYGM):c.1519-7C>T
NM_005609.4(PYGM):c.1520G>A (p.Arg507His)
NM_005609.4(PYGM):c.1523del (p.Ile508fs)
NM_005609.4(PYGM):c.1524C>T (p.Ile508=) rs540436223
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) rs1057516612
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del) rs1325298827
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.1531del (p.Asp511fs)
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.1539C>T (p.Ile513=)
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)
NM_005609.4(PYGM):c.1546C>T (p.Leu516=)
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter) rs1592410003
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.1569C>T (p.Leu523=)
NM_005609.4(PYGM):c.15G>C (p.Leu5=) rs886038565
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812
NM_005609.4(PYGM):c.1614G>A (p.Val538=)
NM_005609.4(PYGM):c.1620+6G>A
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter) rs119103257
NM_005609.4(PYGM):c.1623A>G (p.Glu541=) rs1592409772
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252
NM_005609.4(PYGM):c.1629G>A (p.Lys543=)
NM_005609.4(PYGM):c.1630T>C (p.Leu544=) rs973893149
NM_005609.4(PYGM):c.164_168del (p.Ala55fs)
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter)
NM_005609.4(PYGM):c.1668C>G (p.Val556=) rs771619843
NM_005609.4(PYGM):c.166C>T (p.Leu56=)
NM_005609.4(PYGM):c.1680del (p.Asn561fs) rs1057516259
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525
NM_005609.4(PYGM):c.1716C>T (p.His572=) rs754944948
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1719A>G (p.Glu573=)
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035
NM_005609.4(PYGM):c.1725del (p.Lys575fs) rs786200874
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.1742del (p.Cys581fs) rs1592409631
NM_005609.4(PYGM):c.1748A>G (p.His583Arg)
NM_005609.4(PYGM):c.1758C>T (p.Thr586=)
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
NM_005609.4(PYGM):c.1761G>A (p.Leu587=)
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser)
NM_005609.4(PYGM):c.1768+1G>A rs771427957
NM_005609.4(PYGM):c.1768+2T>G rs747513238
NM_005609.4(PYGM):c.1769-10T>G
NM_005609.4(PYGM):c.1769-1G>A
NM_005609.4(PYGM):c.1769-4A>C rs1592409359
NM_005609.4(PYGM):c.1769-6C>T
NM_005609.4(PYGM):c.1769-7T>C
NM_005609.4(PYGM):c.1769-8C>T
NM_005609.4(PYGM):c.177C>A (p.Thr59=)
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458
NM_005609.4(PYGM):c.180G>A (p.Val60=)
NM_005609.4(PYGM):c.1827+10C>T
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1827+7A>G rs532747
NM_005609.4(PYGM):c.1827+9C>T
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259
NM_005609.4(PYGM):c.1828-5C>T
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333
NM_005609.4(PYGM):c.183C>T (p.Arg61=)
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
NM_005609.4(PYGM):c.1863C>T (p.Ile621=) rs1592409104
NM_005609.4(PYGM):c.1869C>A (p.Leu623=)
NM_005609.4(PYGM):c.1869C>T (p.Leu623=) rs144764922
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245
NM_005609.4(PYGM):c.1902C>T (p.Asp634=)
NM_005609.4(PYGM):c.1905G>A (p.Pro635=)
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr) rs1592409000
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys) rs771016457
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198
NM_005609.4(PYGM):c.1926T>C (p.Arg642=) rs779048512
NM_005609.4(PYGM):c.192C>T (p.Leu64=)
NM_005609.4(PYGM):c.193G>A (p.Val65Met)
NM_005609.4(PYGM):c.1941G>A (p.Glu647=)
NM_005609.4(PYGM):c.1948C>T (p.Arg650Ter) rs114073621
NM_005609.4(PYGM):c.1948del (p.Arg650fs)
NM_005609.4(PYGM):c.1953C>T (p.Val651=)
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.1962C>G (p.Ala654=)
NM_005609.4(PYGM):c.1962C>T (p.Ala654=)
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253
NM_005609.4(PYGM):c.1969+1G>T rs753181427
NM_005609.4(PYGM):c.1970-1G>A rs1057516598
NM_005609.4(PYGM):c.1970-5C>T rs1414755282
NM_005609.4(PYGM):c.1986C>T (p.Asp662=) rs1592408469
NM_005609.4(PYGM):c.198del (p.Arg67fs) rs750857876
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.1A>C (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005609.4(PYGM):c.1A>T (p.Met1Leu) rs267606993
NM_005609.4(PYGM):c.2007T>C (p.Thr669=)
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005609.4(PYGM):c.2010G>A (p.Ala670=)
NM_005609.4(PYGM):c.2031C>T (p.Thr677=)
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser)
NM_005609.4(PYGM):c.2043G>A (p.Lys681=)
NM_005609.4(PYGM):c.2047A>G (p.Met683Val)
NM_005609.4(PYGM):c.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2052C>T (p.Leu684=)
NM_005609.4(PYGM):c.2053A>C (p.Asn685His) rs1592408348
NM_005609.4(PYGM):c.2055C>T (p.Asn685=)
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869
NM_005609.4(PYGM):c.2067C>G (p.Thr689=)
NM_005609.4(PYGM):c.2070T>C (p.Ile690=) rs766360254
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) rs1592408302
NM_005609.4(PYGM):c.2076C>A (p.Thr692=)
NM_005609.4(PYGM):c.2077dup (p.Met693fs)
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu)
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948
NM_005609.4(PYGM):c.2088C>T (p.Ala696=)
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys)
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) rs200537357
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
NM_005609.4(PYGM):c.2112G>A (p.Ala704=) rs61737361
NM_005609.4(PYGM):c.2118G>A (p.Glu706=)
NM_005609.4(PYGM):c.2121A>G (p.Glu707=)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2136T>C (p.Phe712=)
NM_005609.4(PYGM):c.2136dup (p.Gly713fs) rs1057517067
NM_005609.4(PYGM):c.213G>A (p.Thr71=)
NM_005609.4(PYGM):c.2143C>A (p.Arg715=)
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375
NM_005609.4(PYGM):c.2177+7G>A rs201366697
NM_005609.4(PYGM):c.2177+8G>A
NM_005609.4(PYGM):c.2177+9G>A rs1592408105
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) rs1057517361
NM_005609.4(PYGM):c.2181dup (p.Asn728fs)
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
NM_005609.4(PYGM):c.2184T>C (p.Asn728=)
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter)
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591
NM_005609.4(PYGM):c.219_220del (p.His74fs) rs1555136752
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs) rs770037766
NM_005609.4(PYGM):c.2204G>A (p.Arg735His)
NM_005609.4(PYGM):c.2220G>C (p.Arg740=) rs533583089
NM_005609.4(PYGM):c.2229T>C (p.Ile743=)
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs) rs1057517058
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.2255_2264dup (p.Gln755fs)
NM_005609.4(PYGM):c.2259C>A (p.Pro753=)
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter)
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867
NM_005609.4(PYGM):c.2271C>T (p.Asp757=) rs1312751218
NM_005609.4(PYGM):c.2274G>A (p.Leu758=)
NM_005609.4(PYGM):c.2274G>T (p.Leu758=)
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln)
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met) rs75685607
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys) rs886048464
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2312+10T>G
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
NM_005609.4(PYGM):c.2313-7C>T rs768815722
NM_005609.4(PYGM):c.2313-8C>T
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn)
NM_005609.4(PYGM):c.2319del (p.Val774fs) rs1462767117
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
NM_005609.4(PYGM):c.2334T>C (p.Tyr778=)
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001
NM_005609.4(PYGM):c.2355G>A (p.Gln785=) rs1592405031
NM_005609.4(PYGM):c.2358G>A (p.Glu786=)
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
NM_005609.4(PYGM):c.2364C>T (p.Val788=)
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg)
NM_005609.4(PYGM):c.2367C>T (p.Ser789=)
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe)
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys) rs757292296
NM_005609.4(PYGM):c.2379+8G>A
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2385A>C (p.Pro795=)
NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs)
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln) rs577589879
NM_005609.4(PYGM):c.2392T>A (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)
NM_005609.4(PYGM):c.2397G>A (p.Thr799=)
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599
NM_005609.4(PYGM):c.2406G>C (p.Val802=)
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544
NM_005609.4(PYGM):c.2424C>T (p.Thr808=)
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)
NM_005609.4(PYGM):c.244-1G>A
NM_005609.4(PYGM):c.244-310_244-309insGGGCCTTGGCCTTGCCCTCCTGGGGAGCTCTTGGAGGCGCTTCCACATGTCCTGGCATCCTGCTGGGCTGTGCGG rs60191633
NM_005609.4(PYGM):c.244-7T>C
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055
NM_005609.4(PYGM):c.2448C>A (p.Arg816=)
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn) rs886048460
NM_005609.4(PYGM):c.2451C>T (p.Thr817=)
NM_005609.4(PYGM):c.2457C>G (p.Ala819=)
NM_005609.4(PYGM):c.2463T>C (p.Tyr821=)
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp) rs747567834
NM_005609.4(PYGM):c.2487G>A (p.Glu829=)
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val)
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) rs1400353740
NM_005609.4(PYGM):c.2528G>T (p.Ter843Leu) rs1057516529
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145
NM_005609.4(PYGM):c.253del (p.Tyr85fs) rs1057516629
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.256C>T (p.Leu86=) rs541817643
NM_005609.4(PYGM):c.262_263del (p.Leu88fs) rs1555136540
NM_005609.4(PYGM):c.280C>T (p.Arg94Trp) rs370247862
NM_005609.4(PYGM):c.2T>C (p.Met1Thr)
NM_005609.4(PYGM):c.306C>T (p.Asn102=)
NM_005609.4(PYGM):c.30A>G (p.Lys10=)
NM_005609.4(PYGM):c.327T>C (p.Cys109=)
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile)
NM_005609.4(PYGM):c.345+2T>A
NM_005609.4(PYGM):c.345+8T>G rs766800006
NM_005609.4(PYGM):c.346-4C>T
NM_005609.4(PYGM):c.346-9C>T rs368998655
NM_005609.4(PYGM):c.346C>G (p.Leu116Val)
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924
NM_005609.4(PYGM):c.348G>A (p.Leu116=)
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) rs1555136459
NM_005609.4(PYGM):c.384G>A (p.Glu128=)
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286
NM_005609.4(PYGM):c.390G>A (p.Ala130=) rs771873586
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg)
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.411G>A (p.Leu137=) rs746345515
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.417G>T (p.Arg139=)
NM_005609.4(PYGM):c.424+7A>C
NM_005609.4(PYGM):c.424+9_424+12del rs1393111280
NM_005609.4(PYGM):c.425-10A>G
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.445_448del (p.Ala149fs) rs1057517400
NM_005609.4(PYGM):c.459G>C (p.Leu153=)
NM_005609.4(PYGM):c.45T>C (p.Ser15=)
NM_005609.4(PYGM):c.462C>T (p.Ala154=)
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr)
NM_005609.4(PYGM):c.465C>T (p.Ala155=)
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp)
NM_005609.4(PYGM):c.474C>T (p.Tyr158=) rs766020669
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732
NM_005609.4(PYGM):c.489G>A (p.Glu163=)
NM_005609.4(PYGM):c.493_514del (p.Gly165fs)
NM_005609.4(PYGM):c.502A>C (p.Asn168His)
NM_005609.4(PYGM):c.510G>A (p.Lys170=)
NM_005609.4(PYGM):c.516C>T (p.Ser172=) rs147402432
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.521del (p.Gly174fs)
NM_005609.4(PYGM):c.521dup (p.Trp175fs)
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)
NM_005609.4(PYGM):c.528+1G>A
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.528+9C>T rs371349986
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681
NM_005609.4(PYGM):c.558C>T (p.Tyr186=) rs144298015
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys) rs604595
NM_005609.4(PYGM):c.564C>T (p.Asn188=)
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu) rs773595572
NM_005609.4(PYGM):c.594G>A (p.Thr198=) rs1386180219
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859
NM_005609.4(PYGM):c.60C>T (p.Ala20=)
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639
NM_005609.4(PYGM):c.627C>T (p.His209=)
NM_005609.4(PYGM):c.630C>T (p.Thr210=) rs115141783
NM_005609.4(PYGM):c.63C>T (p.Gly21=) rs368124628
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551
NM_005609.4(PYGM):c.657A>G (p.Thr219=)
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258
NM_005609.4(PYGM):c.661-10C>G
NM_005609.4(PYGM):c.661-4G>A
NM_005609.4(PYGM):c.661-599G>T
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_005609.4(PYGM):c.661-5C>T rs75633423
NM_005609.4(PYGM):c.661-5del rs768761419
NM_005609.4(PYGM):c.661-9C>T rs776779910
NM_005609.4(PYGM):c.667C>G (p.Leu223Val)
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter)
NM_005609.4(PYGM):c.681C>T (p.Tyr227=) rs377503100
NM_005609.4(PYGM):c.682del (p.Asp228fs)
NM_005609.4(PYGM):c.687G>A (p.Thr229=)
NM_005609.4(PYGM):c.690C>T (p.Pro230=) rs946190237
NM_005609.4(PYGM):c.699C>T (p.Gly233=)
NM_005609.4(PYGM):c.723C>T (p.Thr241=) rs772848708
NM_005609.4(PYGM):c.728G>A (p.Arg243His)
NM_005609.4(PYGM):c.729C>T (p.Arg243=) rs151160016
NM_005609.4(PYGM):c.72C>T (p.Asn24=) rs757114579
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) rs1555135785
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser) rs143071876
NM_005609.4(PYGM):c.773-1G>C
NM_005609.4(PYGM):c.773-7C>T rs1413766441
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781
NM_005609.4(PYGM):c.777T>C (p.Asn259=)
NM_005609.4(PYGM):c.780C>T (p.Val260=)
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)
NM_005609.4(PYGM):c.802T>C (p.Leu268=)
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769
NM_005609.4(PYGM):c.818C>T (p.Ala273Val) rs768576604
NM_005609.4(PYGM):c.819G>A (p.Ala273=) rs763918119
NM_005609.4(PYGM):c.828C>T (p.Ile276=)
NM_005609.4(PYGM):c.840G>C (p.Leu280=)
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011
NM_005609.4(PYGM):c.84G>A (p.Leu28=) rs752615989
NM_005609.4(PYGM):c.855+1G>A
NM_005609.4(PYGM):c.856-8G>A
NM_005609.4(PYGM):c.856-8G>C
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) rs374812974
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186
NM_005609.4(PYGM):c.928C>T (p.Arg310Cys)
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789
NM_005609.4(PYGM):c.963T>C (p.Asp321=)
NM_005609.4(PYGM):c.966C>T (p.Pro322=) rs377041639
NM_005609.4(PYGM):c.967G>T (p.Val323Leu)
NM_005609.4(PYGM):c.982G>C (p.Asp328His)
NM_005609.4(PYGM):c.987C>G (p.Ala329=)
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser) rs886048463
NM_005609.4(PYGM):c.999+10G>A rs199638571
NM_005609.4(PYGM):c.999+20C>T rs201711087
NM_005609.4(PYGM):c.999+7T>C
NM_005609.4(PYGM):c.999+9C>A
NM_005609.4(PYGM):c.999+9C>T rs183026465
PYGM, 1-BP INS, A/8-BP DEL, CODON 387
PYGM, IVS14, G-A, +1

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