ClinVar Miner

List of variants in gene PYGM reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 345
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626 0.00077
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 0.00042
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639 0.00039
NM_005609.2(PYGM):c.-789T>C rs143460923 0.00038
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198 0.00035
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590 0.00034
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr) rs142008108 0.00034
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile) rs149067043 0.00034
NM_005609.4(PYGM):c.1885G>T (p.Asp629Tyr) rs137986928 0.00032
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867 0.00026
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107 0.00018
NM_005609.3(PYGM):c.-146C>A rs764403406 0.00016
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234 0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789 0.00016
NM_005609.2(PYGM):c.-724C>G rs754685048 0.00013
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys) rs559363120 0.00013
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu) rs372851103 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 0.00010
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys) rs200481790 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_005609.4(PYGM):c.284C>T (p.Thr95Met) rs375233791 0.00010
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00010
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp) rs199565370 0.00010
NM_005609.4(PYGM):c.-20C>T rs71581796 0.00009
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp) rs531748591 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser) rs140016055 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983 0.00009
NM_005609.4(PYGM):c.63C>T (p.Gly21=) rs368124628 0.00009
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781 0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 0.00009
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_005609.4(PYGM):c.1239+12G>A rs760471706 0.00006
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile) rs151213354 0.00006
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282 0.00006
NM_005609.4(PYGM):c.1913G>T (p.Gly638Val) rs776881451 0.00006
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591 0.00006
NM_005609.4(PYGM):c.502A>C (p.Asn168His) rs760531401 0.00006
NM_005609.4(PYGM):c.661-599G>T rs963364351 0.00006
NM_005609.4(PYGM):c.832C>T (p.Arg278Cys) rs762779955 0.00006
NM_005609.4(PYGM):c.1239+9G>A rs374937711 0.00005
NM_005609.4(PYGM):c.1409A>G (p.Lys470Arg) rs754940511 0.00005
NM_005609.4(PYGM):c.1882G>A (p.Gly628Arg) rs201591132 0.00005
NM_005609.4(PYGM):c.193G>A (p.Val65Met) rs149658961 0.00005
NM_005609.4(PYGM):c.855+4C>T rs199834605 0.00005
NM_005609.4(PYGM):c.1075C>T (p.Arg359Trp) rs761807664 0.00004
NM_005609.4(PYGM):c.1218G>T (p.Glu406Asp) rs757762621 0.00004
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) rs769602726 0.00004
NM_005609.4(PYGM):c.131G>A (p.Arg44His) rs567482511 0.00004
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val) rs377371768 0.00004
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln) rs758175735 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys) rs757292296 0.00004
NM_005609.4(PYGM):c.727C>T (p.Arg243Cys) rs141055359 0.00004
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser) rs143071876 0.00004
NM_005609.4(PYGM):c.929G>A (p.Arg310His) rs759130375 0.00004
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) rs370291854 0.00003
NM_005609.4(PYGM):c.1492C>T (p.Pro498Ser) rs200101718 0.00003
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly) rs775496411 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544 0.00003
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro) rs747495987 0.00003
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551 0.00003
NM_005609.4(PYGM):c.780C>T (p.Val260=) rs754415422 0.00003
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys) rs781394907 0.00002
NM_005609.4(PYGM):c.1239+8C>T rs886048461 0.00002
NM_005609.4(PYGM):c.1315C>T (p.Arg439Cys) rs758774720 0.00002
NM_005609.4(PYGM):c.1354G>A (p.Ala452Thr) rs746021869 0.00002
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys) rs769805782 0.00002
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705 0.00002
NM_005609.4(PYGM):c.1881C>T (p.Ile627=) rs369361532 0.00002
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys) rs771016457 0.00002
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser) rs755716626 0.00002
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser) rs765656412 0.00002
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys) rs984250045 0.00002
NM_005609.4(PYGM):c.2335G>A (p.Glu779Lys) rs1014177089 0.00002
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599 0.00002
NM_005609.4(PYGM):c.346-9C>T rs368998655 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00002
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys) rs753533515 0.00002
NM_005609.4(PYGM):c.818C>T (p.Ala273Val) rs768576604 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005609.3(PYGM):c.-234C>T rs886048466 0.00001
NM_005609.4(PYGM):c.*80G>A rs1245399507 0.00001
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_005609.4(PYGM):c.1092+15C>T rs1319046232 0.00001
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro) rs759336535 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln) rs548646628 0.00001
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val) rs767347157 0.00001
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln) rs756303162 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1520G>A (p.Arg507His) rs575153481 0.00001
NM_005609.4(PYGM):c.1540T>G (p.Ser514Ala) rs1287109702 0.00001
NM_005609.4(PYGM):c.1620+3G>T rs548943016 0.00001
NM_005609.4(PYGM):c.1702G>A (p.Val568Met) rs757791045 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.1748A>G (p.His583Arg) rs760543538 0.00001
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) rs794727189 0.00001
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072 0.00001
NM_005609.4(PYGM):c.2204G>A (p.Arg735His) rs760277933 0.00001
NM_005609.4(PYGM):c.224A>G (p.Tyr75Cys) rs1449944847 0.00001
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln) rs754822104 0.00001
NM_005609.4(PYGM):c.2322C>T (p.Val774=) rs1045215677 0.00001
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln) rs577589879 0.00001
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met) rs377401213 0.00001
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro) rs1213033233 0.00001
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp) rs747567834 0.00001
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys) rs757670205 0.00001
NM_005609.4(PYGM):c.256C>T (p.Leu86=) rs541817643 0.00001
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile) rs147571836 0.00001
NM_005609.4(PYGM):c.346C>G (p.Leu116Val) rs759361512 0.00001
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286 0.00001
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr) rs753687960 0.00001
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579 0.00001
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681 0.00001
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys) rs749507354 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu) rs773595572 0.00001
NM_005609.4(PYGM):c.618T>A (p.His206Gln) rs371343340 0.00001
NM_005609.4(PYGM):c.704G>A (p.Arg235His) rs371247639 0.00001
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675 0.00001
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln) rs374812974 0.00001
NM_005609.4(PYGM):c.928C>T (p.Arg310Cys) rs778061067 0.00001
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser) rs886048463 0.00001
NC_000011.9:g.(?_64520525)_(64523631_?)dup
NM_005609.2(PYGM):c.-556C>G rs886048467
NM_005609.2(PYGM):c.-668C>T rs886048468
NM_005609.4(PYGM):c.-23G>A rs886048465
NM_005609.4(PYGM):c.1000G>A (p.Val334Met)
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala)
NM_005609.4(PYGM):c.101G>A (p.Arg34Gln)
NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser)
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys)
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln)
NM_005609.4(PYGM):c.1093-3C>T
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala) rs1592411804
NM_005609.4(PYGM):c.1127C>T (p.Thr376Ile)
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1134C>A (p.His378Gln) rs2135834122
NM_005609.4(PYGM):c.1142T>C (p.Leu381Pro) rs1156945983
NM_005609.4(PYGM):c.1144C>G (p.Pro382Ala)
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1164G>C (p.Trp388Cys) rs2058376345
NM_005609.4(PYGM):c.1166C>A (p.Pro389Gln) rs149649134
NM_005609.4(PYGM):c.1173C>A (p.His391Gln)
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr) rs2058375583
NM_005609.4(PYGM):c.1205A>C (p.Gln402Pro) rs2135833836
NM_005609.4(PYGM):c.1219A>G (p.Ile407Val)
NM_005609.4(PYGM):c.121G>A (p.Val41Ile)
NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr)
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys)
NM_005609.4(PYGM):c.1238A>G (p.Asn413Ser)
NM_005609.4(PYGM):c.1239C>A (p.Asn413Lys)
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp)
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln)
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr)
NM_005609.4(PYGM):c.1262G>A (p.Gly421Glu)
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
NM_005609.4(PYGM):c.1273C>T (p.Arg425Trp) rs577821154
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln) rs368608057
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1283G>A (p.Arg428His)
NM_005609.4(PYGM):c.1298AGG[1] (p.Glu434del)
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys)
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val)
NM_005609.4(PYGM):c.134A>G (p.Asn45Ser)
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile)
NM_005609.4(PYGM):c.1357G>T (p.Val453Phe)
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr)
NM_005609.4(PYGM):c.1379A>G (p.His460Arg) rs2135832903
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val)
NM_005609.4(PYGM):c.1404-20C>T
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1443G>C (p.Gln481His) rs767125939
NM_005609.4(PYGM):c.1448A>C (p.Lys483Thr) rs2135832293
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn) rs1555134900
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile) rs1555134900
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln)
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser)
NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys)
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met)
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu)
NM_005609.4(PYGM):c.1533C>G (p.Asp511Glu)
NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro)
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr)
NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr)
NM_005609.4(PYGM):c.1620+5G>T rs2135831177
NM_005609.4(PYGM):c.1620+6G>A rs2058362817
NM_005609.4(PYGM):c.1629G>A (p.Lys543=) rs2058360665
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys)
NM_005609.4(PYGM):c.1672A>G (p.Ile558Val)
NM_005609.4(PYGM):c.1685C>T (p.Ser562Leu)
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe)
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln) rs759218298
NM_005609.4(PYGM):c.1769-7T>C rs2058357396
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
NM_005609.4(PYGM):c.177C>T (p.Thr59=) rs753355735
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr)
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys) rs1413461008
NM_005609.4(PYGM):c.1832C>T (p.Ala611Val)
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala) rs1419658107
NM_005609.4(PYGM):c.1874C>T (p.Thr625Ile)
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu)
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr) rs1592409000
NM_005609.4(PYGM):c.1919G>A (p.Arg640His)
NM_005609.4(PYGM):c.193G>C (p.Val65Leu)
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr)
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.2011G>T (p.Gly671Cys)
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val)
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg) rs755716626
NM_005609.4(PYGM):c.2047A>G (p.Met683Val) rs1309230359
NM_005609.4(PYGM):c.2053A>C (p.Asn685His) rs1592408348
NM_005609.4(PYGM):c.208_210del (p.Arg70del)
NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys)
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys)
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile)
NM_005609.4(PYGM):c.2127C>A (p.Phe709Leu)
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg)
NM_005609.4(PYGM):c.2143C>A (p.Arg715=) rs780656375
NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro) rs370144967
NM_005609.4(PYGM):c.222C>G (p.His74Gln)
NM_005609.4(PYGM):c.2249T>G (p.Phe750Cys)
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.224A>T (p.Tyr75Phe)
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu)
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys) rs886048464
NM_005609.4(PYGM):c.2301G>C (p.Met767Ile)
NM_005609.4(PYGM):c.2306A>C (p.His769Pro)
NM_005609.4(PYGM):c.2311C>G (p.Arg771Gly) rs369382075
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn) rs2058315823
NM_005609.4(PYGM):c.2326G>A (p.Ala776Thr)
NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys) rs2135823341
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr)
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg) rs750356895
NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr)
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe) rs2058315104
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln)
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln)
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln)
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr)
NM_005609.4(PYGM):c.242A>G (p.Lys81Arg)
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn) rs886048460
NM_005609.4(PYGM):c.2462A>G (p.Tyr821Cys)
NM_005609.4(PYGM):c.2465C>T (p.Ala822Val)
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp)
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly)
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys)
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala)
NM_005609.4(PYGM):c.2515G>A (p.Asp839Asn)
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val) rs2058310112
NM_005609.4(PYGM):c.2518G>A (p.Glu840Lys)
NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn)
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) rs1400353740
NM_005609.4(PYGM):c.253T>C (p.Tyr85His)
NM_005609.4(PYGM):c.307C>G (p.Leu103Val) rs2135840833
NM_005609.4(PYGM):c.345+17_345+18delinsAA
NM_005609.4(PYGM):c.345G>C (p.Gln115His) rs2135840732
NM_005609.4(PYGM):c.358A>C (p.Met120Leu)
NM_005609.4(PYGM):c.359T>C (p.Met120Thr)
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg) rs2058409644
NM_005609.4(PYGM):c.406G>A (p.Gly136Ser)
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.424+4A>G
NM_005609.4(PYGM):c.454G>A (p.Gly152Ser)
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg) rs2135840127
NM_005609.4(PYGM):c.46G>A (p.Val16Met)
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp) rs2058407754
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.50G>A (p.Arg17His)
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.535G>C (p.Glu179Gln)
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.554G>A (p.Arg185His)
NM_005609.4(PYGM):c.586G>A (p.Glu196Lys)
NM_005609.4(PYGM):c.593C>T (p.Thr198Met)
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser)
NM_005609.4(PYGM):c.667C>G (p.Leu223Val) rs772025653
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.691G>A (p.Val231Met)
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala)
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
NM_005609.4(PYGM):c.728G>A (p.Arg243His) rs1312195500
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) rs1555135785
NM_005609.4(PYGM):c.739G>A (p.Ala247Thr)
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser)
NM_005609.4(PYGM):c.799G>C (p.Val267Leu)
NM_005609.4(PYGM):c.80A>G (p.Glu27Gly)
NM_005609.4(PYGM):c.828C>G (p.Ile276Met)
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro) rs775556109
NM_005609.4(PYGM):c.855+3G>T
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys)
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln)
NM_005609.4(PYGM):c.898G>A (p.Val300Met) rs757387408
NM_005609.4(PYGM):c.898G>C (p.Val300Leu) rs757387408
NM_005609.4(PYGM):c.932G>A (p.Arg311His)
NM_005609.4(PYGM):c.941C>A (p.Ser314Tyr)
NM_005609.4(PYGM):c.967G>T (p.Val323Leu) rs770104418
NM_005609.4(PYGM):c.970C>G (p.Arg324Gly)
NM_005609.4(PYGM):c.974C>T (p.Thr325Met)
NM_005609.4(PYGM):c.977A>T (p.Asn326Ile)
NM_005609.4(PYGM):c.982G>C (p.Asp328His) rs758682386
NM_005609.4(PYGM):c.988T>C (p.Phe330Leu)
NM_005609.4(PYGM):c.992C>A (p.Pro331Gln)
NM_005609.4(PYGM):c.999+9C>T rs183026465

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