ClinVar Miner

List of variants in gene PYGM reported as uncertain significance for Glycogen storage disease, type V

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Gene type:
ClinVar version:
Total variants: 422
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00657
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.660G>A (p.Gln220=) rs142234258 0.00186
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
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 0.00072
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_005609.2(PYGM):c.-789T>C rs143460923 0.00060
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00060
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 0.00041
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639 0.00039
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.2268C>T (p.Pro756=) rs144229867 0.00026
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00025
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.1274G>A (p.Arg425Gln) rs368608057 0.00021
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107 0.00018
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525 0.00017
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 0.00015
NM_005609.2(PYGM):c.-724C>G rs754685048 0.00013
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00013
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile) rs201389731 0.00011
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.1558C>T (p.Arg520Cys) rs200481790 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 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.284C>T (p.Thr95Met) rs375233791 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.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00008
NM_005609.4(PYGM):c.1919G>A (p.Arg640His) rs141267088 0.00008
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln) rs368649966 0.00007
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu) rs368385152 0.00007
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp) rs200058475 0.00007
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln) rs372295369 0.00007
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp) rs200464333 0.00007
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.1239+12G>A rs760471706 0.00005
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.1546C>T (p.Leu516=) rs767703629 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.660+17G>A rs767910783 0.00005
NM_005609.4(PYGM):c.661-599G>T rs963364351 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.1905G>A (p.Pro635=) rs759582306 0.00004
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu) rs777736319 0.00004
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys) rs757292296 0.00004
NM_005609.4(PYGM):c.50G>A (p.Arg17His) rs148159796 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.1433A>G (p.His478Arg) rs758131128 0.00003
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 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.2104G>A (p.Glu702Lys) rs775556000 0.00003
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys) rs915786151 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys) rs559363120 0.00003
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00003
NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr) rs781031847 0.00003
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544 0.00003
NM_005609.4(PYGM):c.242A>G (p.Lys81Arg) rs771895781 0.00003
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys) rs200118962 0.00003
NM_005609.4(PYGM):c.359T>C (p.Met120Thr) rs374898083 0.00003
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286 0.00003
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00003
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro) rs747495987 0.00003
NM_005609.4(PYGM):c.593C>T (p.Thr198Met) rs762354482 0.00003
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551 0.00003
NM_005609.4(PYGM):c.833G>A (p.Arg278His) rs775556109 0.00003
NM_005609.4(PYGM):c.974C>T (p.Thr325Met) rs536561941 0.00003
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln) rs1030163168 0.00002
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338 0.00002
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys) rs781394907 0.00002
NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr) rs752045365 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.1357G>A (p.Val453Ile) rs151213354 0.00002
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys) rs769805782 0.00002
NM_005609.4(PYGM):c.1545C>T (p.Asp515=) rs1229595545 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.2107G>A (p.Glu703Lys) rs984250045 0.00002
NM_005609.4(PYGM):c.2326G>A (p.Ala776Thr) rs751807745 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.454G>A (p.Gly152Ser) rs145285313 0.00002
NM_005609.4(PYGM):c.554G>A (p.Arg185His) rs780489639 0.00002
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp) rs375724338 0.00002
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys) rs753533515 0.00002
NM_005609.4(PYGM):c.780C>T (p.Val260=) rs754415422 0.00002
NM_005609.4(PYGM):c.818C>T (p.Ala273Val) rs768576604 0.00002
NM_005609.4(PYGM):c.832C>T (p.Arg278Cys) rs762779955 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.1000G>A (p.Val334Met) rs1233430644 0.00001
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala) rs756085033 0.00001
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732 0.00001
NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser) rs2058379854 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.1110G>A (p.Val370=) rs372719040 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.1205A>C (p.Gln402Pro) rs2135833836 0.00001
NM_005609.4(PYGM):c.121G>A (p.Val41Ile) rs764465584 0.00001
NM_005609.4(PYGM):c.1238A>G (p.Asn413Ser) rs752857036 0.00001
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln) rs750184482 0.00001
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val) rs767347157 0.00001
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr) rs761724503 0.00001
NM_005609.4(PYGM):c.1262G>A (p.Gly421Glu) rs762538125 0.00001
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln) rs756303162 0.00001
NM_005609.4(PYGM):c.1283G>A (p.Arg428His) rs767293977 0.00001
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr) rs199728804 0.00001
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys) rs763488434 0.00001
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val) rs922555750 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.134A>G (p.Asn45Ser) rs769985937 0.00001
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr) rs2058371309 0.00001
NM_005609.4(PYGM):c.1403+2dup rs1489442842 0.00001
NM_005609.4(PYGM):c.1404-20C>T rs370135154 0.00001
NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys) rs1420860986 0.00001
NM_005609.4(PYGM):c.1520G>A (p.Arg507His) rs575153481 0.00001
NM_005609.4(PYGM):c.1533C>G (p.Asp511Glu) rs766794236 0.00001
NM_005609.4(PYGM):c.1540T>G (p.Ser514Ala) rs1287109702 0.00001
NM_005609.4(PYGM):c.1598G>A (p.Arg533Gln) rs1194180857 0.00001
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr) rs746031643 0.00001
NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr) rs375646075 0.00001
NM_005609.4(PYGM):c.1620+3G>T rs548943016 0.00001
NM_005609.4(PYGM):c.1672A>G (p.Ile558Val) rs1204741662 0.00001
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe) rs746276802 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln) rs759218298 0.00001
NM_005609.4(PYGM):c.1748A>G (p.His583Arg) rs760543538 0.00001
NM_005609.4(PYGM):c.1769-7T>C rs2058357396 0.00001
NM_005609.4(PYGM):c.1769G>A (p.Arg590His) rs115942812 0.00001
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr) rs1254930380 0.00001
NM_005609.4(PYGM):c.1835C>T (p.Pro612Leu) rs746099017 0.00001
NM_005609.4(PYGM):c.183C>T (p.Arg61=) rs1182278359 0.00001
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256 0.00001
NM_005609.4(PYGM):c.2011G>T (p.Gly671Cys) rs768434441 0.00001
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val) rs1413827545 0.00001
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) rs794727189 0.00001
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser) rs765656412 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.2216T>C (p.Leu739Pro) rs370144967 0.00001
NM_005609.4(PYGM):c.224A>G (p.Tyr75Cys) rs1449944847 0.00001
NM_005609.4(PYGM):c.2306A>C (p.His769Pro) rs771421657 0.00001
NM_005609.4(PYGM):c.2322C>T (p.Val774=) rs1045215677 0.00001
NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys) rs2135823341 0.00001
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr) rs755923861 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.2462A>G (p.Tyr821Cys) rs757950557 0.00001
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp) rs747567834 0.00001
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe) rs761616685 0.00001
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys) rs757670205 0.00001
NM_005609.4(PYGM):c.2515G>A (p.Asp839Asn) rs147307168 0.00001
NM_005609.4(PYGM):c.2518G>A (p.Glu840Lys) rs896668027 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.346-20T>G rs1025560272 0.00001
NM_005609.4(PYGM):c.346-5T>G rs1016613332 0.00001
NM_005609.4(PYGM):c.346C>G (p.Leu116Val) rs759361512 0.00001
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00001
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr) rs753687960 0.00001
NM_005609.4(PYGM):c.46G>A (p.Val16Met) rs555856016 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.586G>A (p.Glu196Lys) rs2058403588 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.710A>G (p.Asn237Ser) rs771073706 0.00001
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675 0.00001
NM_005609.4(PYGM):c.799G>C (p.Val267Leu) rs756281352 0.00001
NM_005609.4(PYGM):c.80A>G (p.Glu27Gly) rs1305717617 0.00001
NM_005609.4(PYGM):c.828C>G (p.Ile276Met) rs1198004865 0.00001
NM_005609.4(PYGM):c.855+5G>A rs748486465 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.932G>A (p.Arg311His) rs147851780 0.00001
NM_005609.4(PYGM):c.941C>A (p.Ser314Tyr) rs2058382992 0.00001
NM_005609.4(PYGM):c.967G>T (p.Val323Leu) rs770104418 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.1000-16_1000-9del
NM_005609.4(PYGM):c.100C>A (p.Arg34=) rs531748591
NM_005609.4(PYGM):c.1015A>T (p.Asn339Tyr)
NM_005609.4(PYGM):c.101G>A (p.Arg34Gln) rs753484236
NM_005609.4(PYGM):c.1022C>A (p.Thr341Asn)
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys) rs759846298
NM_005609.4(PYGM):c.1093-3C>T rs2058377505
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala) rs1592411804
NM_005609.4(PYGM):c.1127C>T (p.Thr376Ile) rs1318866113
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) rs1371878710
NM_005609.4(PYGM):c.1145C>T (p.Pro382Leu)
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) rs765402043
NM_005609.4(PYGM):c.1195C>T (p.Arg399Trp)
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr) rs2058375583
NM_005609.4(PYGM):c.1219A>G (p.Ile407Val) rs2058375350
NM_005609.4(PYGM):c.1220T>G (p.Ile407Ser)
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys) rs764712114
NM_005609.4(PYGM):c.1239C>A (p.Asn413Lys) rs369313102
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp) rs11231866
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn) rs562393971
NM_005609.4(PYGM):c.1273C>T (p.Arg425Trp) rs577821154
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1298AGG[1] (p.Glu434del) rs2496657306
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1331A>G (p.His444Arg)
NM_005609.4(PYGM):c.1346G>A (p.Gly449Glu)
NM_005609.4(PYGM):c.1346G>C (p.Gly449Ala)
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile) rs2496656917
NM_005609.4(PYGM):c.1357G>T (p.Val453Phe) rs151213354
NM_005609.4(PYGM):c.1373G>A (p.Arg458His)
NM_005609.4(PYGM):c.1379A>G (p.His460Arg) rs2135832903
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val) rs757470750
NM_005609.4(PYGM):c.1406T>C (p.Phe469Ser)
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.1468C>G (p.Arg490Gly)
NM_005609.4(PYGM):c.1477C>A (p.Leu493Met)
NM_005609.4(PYGM):c.1495G>A (p.Gly499Arg)
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser) rs2496655040
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met) rs540436223
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu) rs766794236
NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro) rs2496653538
NM_005609.4(PYGM):c.1614G>A (p.Val538=) rs747854789
NM_005609.4(PYGM):c.1620+5G>T rs2135831177
NM_005609.4(PYGM):c.1620+6G>A rs2058362817
NM_005609.4(PYGM):c.1620G>T (p.Gln540His)
NM_005609.4(PYGM):c.1621-11T>G
NM_005609.4(PYGM):c.1629G>A (p.Lys543=) rs2058360665
NM_005609.4(PYGM):c.1639G>T (p.Ala547Ser)
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys) rs1311913891
NM_005609.4(PYGM):c.1685C>T (p.Ser562Leu) rs1182548085
NM_005609.4(PYGM):c.1702G>A (p.Val568Met) rs757791045
NM_005609.4(PYGM):c.1721A>G (p.Tyr574Cys)
NM_005609.4(PYGM):c.1744C>T (p.Leu582Phe)
NM_005609.4(PYGM):c.177C>T (p.Thr59=) rs753355735
NM_005609.4(PYGM):c.1810G>C (p.Val604Leu)
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys) rs1413461008
NM_005609.4(PYGM):c.1832C>T (p.Ala611Val) rs769869077
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala) rs1419658107
NM_005609.4(PYGM):c.1846A>G (p.Met616Val)
NM_005609.4(PYGM):c.1874C>T (p.Thr625Ile) rs1374947591
NM_005609.4(PYGM):c.1913G>A (p.Gly638Asp)
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr) rs1592409000
NM_005609.4(PYGM):c.193G>C (p.Val65Leu) rs149658961
NM_005609.4(PYGM):c.1969G>T (p.Val657Leu)
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr) rs2496648766
NM_005609.4(PYGM):c.199C>T (p.Arg67Cys)
NM_005609.4(PYGM):c.2009C>A (p.Ala670Glu)
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg) rs755716626
NM_005609.4(PYGM):c.2042A>T (p.Lys681Met)
NM_005609.4(PYGM):c.2044T>C (p.Phe682Leu)
NM_005609.4(PYGM):c.2047A>G (p.Met683Val) rs1309230359
NM_005609.4(PYGM):c.2049G>C (p.Met683Ile)
NM_005609.4(PYGM):c.2053A>C (p.Asn685His) rs1592408348
NM_005609.4(PYGM):c.2086G>A (p.Ala696Thr)
NM_005609.4(PYGM):c.208_210del (p.Arg70del) rs2496674944
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile) rs2496648065
NM_005609.4(PYGM):c.2127C>A (p.Phe709Leu) rs1007363915
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg) rs377713922
NM_005609.4(PYGM):c.212C>T (p.Thr71Met)
NM_005609.4(PYGM):c.2143C>A (p.Arg715=) rs780656375
NM_005609.4(PYGM):c.2178G>T (p.Gly726=)
NM_005609.4(PYGM):c.2219G>A (p.Arg740Gln)
NM_005609.4(PYGM):c.222C>G (p.His74Gln) rs2496674881
NM_005609.4(PYGM):c.2249T>G (p.Phe750Cys) rs1232022501
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.224A>T (p.Tyr75Phe) rs1449944847
NM_005609.4(PYGM):c.2255C>T (p.Ser752Phe)
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln) rs754822104
NM_005609.4(PYGM):c.2281G>A (p.Asp761Asn)
NM_005609.4(PYGM):c.2284A>G (p.Ile762Val)
NM_005609.4(PYGM):c.2291A>G (p.Asn764Ser)
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys) rs886048464
NM_005609.4(PYGM):c.2300T>C (p.Met767Thr)
NM_005609.4(PYGM):c.2301G>C (p.Met767Ile) rs2496639048
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.2312G>T (p.Arg771Leu)
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn) rs2058315823
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg) rs750356895
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe) rs2058315104
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln) rs2496636587
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln) rs1476157353
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr) rs373305106
NM_005609.4(PYGM):c.241A>G (p.Lys81Glu)
NM_005609.4(PYGM):c.2428G>A (p.Gly810Ser)
NM_005609.4(PYGM):c.243+20G>T
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn) rs886048460
NM_005609.4(PYGM):c.2465C>T (p.Ala822Val) rs747567834
NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly) rs200118962
NM_005609.4(PYGM):c.2501G>A (p.Arg834His)
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala) rs775376390
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val) rs2058310112
NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn) rs2058309986
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg) rs1400353740
NM_005609.4(PYGM):c.253T>C (p.Tyr85His) rs373310140
NM_005609.4(PYGM):c.285G>T (p.Thr95=)
NM_005609.4(PYGM):c.298A>T (p.Met100Leu)
NM_005609.4(PYGM):c.299T>G (p.Met100Arg)
NM_005609.4(PYGM):c.307C>G (p.Leu103Val) rs2135840833
NM_005609.4(PYGM):c.316G>C (p.Glu106Gln)
NM_005609.4(PYGM):c.345+17_345+18delinsAA rs2496671320
NM_005609.4(PYGM):c.345G>C (p.Gln115His) rs2135840732
NM_005609.4(PYGM):c.358A>C (p.Met120Leu) rs886943655
NM_005609.4(PYGM):c.358A>G (p.Met120Val)
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg) rs2058409644
NM_005609.4(PYGM):c.406G>A (p.Gly136Ser) rs1246112610
NM_005609.4(PYGM):c.407G>T (p.Gly136Val)
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.424+4A>G rs2496670707
NM_005609.4(PYGM):c.424+5G>A
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg) rs2135840127
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp) rs2058407754
NM_005609.4(PYGM):c.471C>G (p.Gly157=)
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.484T>C (p.Tyr162His)
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.527A>G (p.Gln176Arg)
NM_005609.4(PYGM):c.529-4G>A
NM_005609.4(PYGM):c.535G>C (p.Glu179Gln) rs772653455
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.578C>T (p.Ala193Val)
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser) rs2496668403
NM_005609.4(PYGM):c.664G>C (p.Val222Leu)
NM_005609.4(PYGM):c.667C>G (p.Leu223Val) rs772025653
NM_005609.4(PYGM):c.674T>C (p.Met225Thr)
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.682G>A (p.Asp228Asn)
NM_005609.4(PYGM):c.682G>C (p.Asp228His)
NM_005609.4(PYGM):c.691G>A (p.Val231Met) rs763524554
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala) rs2496664048
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) rs778261564
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser) rs2058386942
NM_005609.4(PYGM):c.7C>G (p.Arg3Gly)
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro) rs775556109
NM_005609.4(PYGM):c.855+3G>A
NM_005609.4(PYGM):c.855+3G>T rs1460614971
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys) rs776369912
NM_005609.4(PYGM):c.858C>A (p.Phe286Leu)
NM_005609.4(PYGM):c.878G>A (p.Arg293Gln)
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln) rs1358384674
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.968T>C (p.Val323Ala)
NM_005609.4(PYGM):c.970C>G (p.Arg324Gly) rs141889634
NM_005609.4(PYGM):c.977A>T (p.Asn326Ile) rs2135835320
NM_005609.4(PYGM):c.982G>C (p.Asp328His) rs758682386
NM_005609.4(PYGM):c.988T>C (p.Phe330Leu) rs2135835281
NM_005609.4(PYGM):c.992C>A (p.Pro331Gln) rs2496661348
NM_005609.4(PYGM):c.999+6A>G
NM_005609.4(PYGM):c.999+9C>T rs183026465

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