ClinVar Miner

List of variants in gene PYGM studied for Glycogen storage disease, type V

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1362
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.528+74C>A rs489192 0.80888
NM_005609.4(PYGM):c.999+99T>C rs625172 0.76387
NM_005609.4(PYGM):c.1403+49C>A rs2959652 0.73328
NM_005609.4(PYGM):c.660+35G>A rs589691 0.68983
NM_005609.4(PYGM):c.529-82G>A rs490980 0.68643
NM_005609.4(PYGM):c.243+48A>G rs477549 0.20640
NM_005609.3(PYGM):c.-381T>C rs483962 0.20383
NM_005609.4(PYGM):c.2313-47T>C rs569602 0.10954
NM_005609.4(PYGM):c.1827+7A>G rs532747 0.10554
NM_005609.4(PYGM):c.1768+51C>T rs686171 0.08974
NM_005609.4(PYGM):c.1494C>T (p.Pro498=) rs11231865 0.03355
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787 0.01778
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01143
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.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser) rs77656150 0.00209
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.148C>T (p.Arg50Ter) rs116987552 0.00178
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.424+17G>A rs202244109 0.00140
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) rs200537357 0.00116
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met) rs75685607 0.00112
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00102
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.516C>T (p.Ser172=) rs147402432 0.00076
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00072
NM_005609.4(PYGM):c.2112G>A (p.Ala704=) rs61737361 0.00068
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.2007T>C (p.Thr669=) rs1330878809 0.00039
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639 0.00039
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784 0.00036
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.-76A>G rs139467558 0.00030
NM_005609.4(PYGM):c.1519-12G>A rs373078258 0.00028
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
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.729C>T (p.Arg243=) rs151160016 0.00024
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_005609.4(PYGM):c.1143G>A (p.Leu381=) rs143401208 0.00021
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln) rs368608057 0.00021
NM_005609.4(PYGM):c.2220G>C (p.Arg740=) rs533583089 0.00019
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys) rs765844107 0.00018
NM_005609.4(PYGM):c.72C>T (p.Asn24=) rs757114579 0.00018
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525 0.00017
NM_005609.4(PYGM):c.855+15G>A rs368565983 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.1215C>T (p.Tyr405=) rs371264447 0.00015
NM_005609.4(PYGM):c.1769-12G>A rs377117150 0.00015
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789 0.00015
NM_005609.4(PYGM):c.981C>T (p.Phe327=) rs146289842 0.00015
NM_005609.2(PYGM):c.-724C>G rs754685048 0.00013
NM_005609.4(PYGM):c.558C>T (p.Tyr186=) rs144298015 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.1403+9C>T rs777612401 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.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.120C>T (p.Leu40=) rs370819554 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.1239+18G>C rs533410561 0.00007
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_005609.4(PYGM):c.1347G>T (p.Gly449=) rs141152121 0.00007
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln) rs368649966 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 0.00007
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu) rs368385152 0.00007
NM_005609.4(PYGM):c.2031C>T (p.Thr677=) rs372078244 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.1371G>A (p.Ala457=) rs766082496 0.00006
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282 0.00006
NM_005609.4(PYGM):c.1455C>T (p.Asn485=) rs149123972 0.00006
NM_005609.4(PYGM):c.1769-19C>A rs370599740 0.00006
NM_005609.4(PYGM):c.1913G>T (p.Gly638Val) rs776881451 0.00006
NM_005609.4(PYGM):c.2056G>A (p.Gly686Arg) rs144081869 0.00006
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591 0.00006
NM_005609.4(PYGM):c.390G>A (p.Ala130=) rs771873586 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+13G>C rs773082010 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.2178-1G>A rs143670942 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.897C>T (p.Phe299=) rs114363966 0.00005
NM_005609.4(PYGM):c.1075C>T (p.Arg359Trp) rs761807664 0.00004
NM_005609.4(PYGM):c.1185G>A (p.Thr395=) rs1347426590 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.1404-19G>A rs778696550 0.00004
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg) rs398124209 0.00004
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln) rs758175735 0.00004
NM_005609.4(PYGM):c.1518+14G>A rs755630318 0.00004
NM_005609.4(PYGM):c.1539C>T (p.Ile513=) rs750948324 0.00004
NM_005609.4(PYGM):c.1621-15C>T rs776525656 0.00004
NM_005609.4(PYGM):c.1905G>A (p.Pro635=) rs759582306 0.00004
NM_005609.4(PYGM):c.1926T>C (p.Arg642=) rs779048512 0.00004
NM_005609.4(PYGM):c.213G>A (p.Thr71=) rs771239946 0.00004
NM_005609.4(PYGM):c.2177+20C>T rs776060595 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.424+16C>T rs201194596 0.00004
NM_005609.4(PYGM):c.50G>A (p.Arg17His) rs148159796 0.00004
NM_005609.4(PYGM):c.528+9C>T rs371349986 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.808C>T (p.Arg270Ter) rs767739769 0.00004
NM_005609.4(PYGM):c.929G>A (p.Arg310His) rs759130375 0.00004
NM_005609.4(PYGM):c.1093-9G>C rs571244371 0.00003
NM_005609.4(PYGM):c.1176C>T (p.Leu392=) rs374770169 0.00003
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro) rs1005687078 0.00003
NM_005609.4(PYGM):c.1240-22_1240-20del rs754503549 0.00003
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val) rs370291854 0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044 0.00003
NM_005609.4(PYGM):c.1353C>T (p.His451=) rs377599118 0.00003
NM_005609.4(PYGM):c.1362C>T (p.Asn454=) rs375294505 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.1518+13C>T rs779915904 0.00003
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly) rs775496411 0.00003
NM_005609.4(PYGM):c.1668C>G (p.Val556=) rs771619843 0.00003
NM_005609.4(PYGM):c.1716C>T (p.His572=) rs754944948 0.00003
NM_005609.4(PYGM):c.1769-13C>T rs201995805 0.00003
NM_005609.4(PYGM):c.1769-6C>T rs1404563963 0.00003
NM_005609.4(PYGM):c.2052C>T (p.Leu684=) rs753017949 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.2312+16C>T rs184694130 0.00003
NM_005609.4(PYGM):c.2312+19G>A rs756015534 0.00003
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr) rs781031847 0.00003
NM_005609.4(PYGM):c.2380-11T>G rs1045304148 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.411G>A (p.Leu137=) rs746345515 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.661-4G>A rs200126118 0.00003
NM_005609.4(PYGM):c.681C>T (p.Tyr227=) rs377503100 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.1000-13C>A rs779002909 0.00002
NM_005609.4(PYGM):c.1071G>C (p.Leu357=) rs773654032 0.00002
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln) rs1030163168 0.00002
NM_005609.4(PYGM):c.1093-5G>A rs745663647 0.00002
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338 0.00002
NM_005609.4(PYGM):c.1194G>A (p.Pro398=) rs771508536 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.1366G>A (p.Val456Met) rs398124208 0.00002
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys) rs769805782 0.00002
NM_005609.4(PYGM):c.1519-7C>T rs775468145 0.00002
NM_005609.4(PYGM):c.1545C>T (p.Asp515=) rs1229595545 0.00002
NM_005609.4(PYGM):c.1620+17T>C rs1280465032 0.00002
NM_005609.4(PYGM):c.1621-16C>G rs759432160 0.00002
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro) rs761438921 0.00002
NM_005609.4(PYGM):c.1769-16T>C rs559274876 0.00002
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705 0.00002
NM_005609.4(PYGM):c.1869C>T (p.Leu623=) rs144764922 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.1948C>T (p.Arg650Ter) rs114073621 0.00002
NM_005609.4(PYGM):c.2010G>A (p.Ala670=) rs774235610 0.00002
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser) rs755716626 0.00002
NM_005609.4(PYGM):c.2055C>T (p.Asn685=) rs755381729 0.00002
NM_005609.4(PYGM):c.2067C>G (p.Thr689=) rs1021120134 0.00002
NM_005609.4(PYGM):c.207C>T (p.Ile69=) rs1187793621 0.00002
NM_005609.4(PYGM):c.2083G>A (p.Gly695Arg) rs768604948 0.00002
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys) rs984250045 0.00002
NM_005609.4(PYGM):c.2187C>T (p.Ala729=) rs1308066493 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.2379+8G>A rs536129249 0.00002
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599 0.00002
NM_005609.4(PYGM):c.244-1G>A rs2135840980 0.00002
NM_005609.4(PYGM):c.2463T>C (p.Tyr821=) rs1236553650 0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145 0.00002
NM_005609.4(PYGM):c.345+20A>T rs979531039 0.00002
NM_005609.4(PYGM):c.345+2T>A rs1219299972 0.00002
NM_005609.4(PYGM):c.345+8T>G rs766800006 0.00002
NM_005609.4(PYGM):c.346-9C>T rs368998655 0.00002
NM_005609.4(PYGM):c.402C>T (p.Asn134=) rs372262267 0.00002
NM_005609.4(PYGM):c.454G>A (p.Gly152Ser) rs145285313 0.00002
NM_005609.4(PYGM):c.468T>C (p.Tyr156=) rs139815072 0.00002
NM_005609.4(PYGM):c.474C>T (p.Tyr158=) rs766020669 0.00002
NM_005609.4(PYGM):c.554G>A (p.Arg185His) rs780489639 0.00002
NM_005609.4(PYGM):c.585C>T (p.Pro195=) rs1469910376 0.00002
NM_005609.4(PYGM):c.594G>A (p.Thr198=) rs1386180219 0.00002
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp) rs375724338 0.00002
NM_005609.4(PYGM):c.615C>A (p.Gly205=) rs781010056 0.00002
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys) rs753533515 0.00002
NM_005609.4(PYGM):c.661-10C>T rs759810824 0.00002
NM_005609.4(PYGM):c.773-9G>A rs1403291863 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.81G>A (p.Glu27=) rs758383567 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_005609.4(PYGM):c.999+10G>A rs199638571 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.1000-10C>T rs749114783 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.1005C>T (p.Ala335=) rs773605626 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.1029C>T (p.Pro343=) rs529443755 0.00001
NM_005609.4(PYGM):c.1044C>T (p.Pro348=) rs763750599 0.00001
NM_005609.4(PYGM):c.1060C>T (p.Leu354=) rs560441482 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.1092+1G>A rs749560316 0.00001
NM_005609.4(PYGM):c.1092+7T>G rs1565535891 0.00001
NM_005609.4(PYGM):c.1093-10C>T rs763253788 0.00001
NM_005609.4(PYGM):c.1095G>A (p.Ala365=) rs1370804680 0.00001
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040 0.00001
NM_005609.4(PYGM):c.1146C>T (p.Pro382=) rs767963946 0.00001
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys) rs757681143 0.00001
NM_005609.4(PYGM):c.1159del (p.Arg387fs) rs2058376454 0.00001
NM_005609.4(PYGM):c.1167G>A (p.Pro389=) rs775798000 0.00001
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro) rs759336535 0.00001
NM_005609.4(PYGM):c.1191G>A (p.Leu397=) rs746939954 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.1239+1G>A rs759657964 0.00001
NM_005609.4(PYGM):c.1239+7C>T rs1382003123 0.00001
NM_005609.4(PYGM):c.1240-16G>A rs573898801 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.1248G>A (p.Ala416=) rs1439165952 0.00001
NM_005609.4(PYGM):c.1251C>T (p.Ala417=) rs1328262607 0.00001
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr) rs761724503 0.00001
NM_005609.4(PYGM):c.1254A>G (p.Ala418=) rs774411573 0.00001
NM_005609.4(PYGM):c.1262G>A (p.Gly421Glu) rs762538125 0.00001
NM_005609.4(PYGM):c.1275G>C (p.Arg425=) rs754958776 0.00001
NM_005609.4(PYGM):c.1278G>A (p.Leu426=) rs1364173099 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.1289C>T (p.Ser430Leu) rs1212604 0.00001
NM_005609.4(PYGM):c.1290G>A (p.Ser430=) rs1039138727 0.00001
NM_005609.4(PYGM):c.1302G>A (p.Glu434=) rs1226989230 0.00001
NM_005609.4(PYGM):c.1305C>T (p.Gly435=) rs1433618435 0.00001
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr) rs199728804 0.00001
NM_005609.4(PYGM):c.1308A>G (p.Ala436=) rs912122302 0.00001
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys) rs763488434 0.00001
NM_005609.4(PYGM):c.1317C>T (p.Arg439=) rs2058372225 0.00001
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val) rs922555750 0.00001
NM_005609.4(PYGM):c.1344G>A (p.Ala448=) rs1466751658 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.1353dup (p.Ala452fs) rs779562449 0.00001
NM_005609.4(PYGM):c.1365C>T (p.Gly455=) rs1056780 0.00001
NM_005609.4(PYGM):c.1368G>A (p.Val456=) rs776368157 0.00001
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr) rs2058371309 0.00001
NM_005609.4(PYGM):c.1383C>T (p.Ser461=) rs775978754 0.00001
NM_005609.4(PYGM):c.1395G>A (p.Lys465=) rs555057489 0.00001
NM_005609.4(PYGM):c.13_14del (p.Leu5fs) rs772194378 0.00001
NM_005609.4(PYGM):c.1403+15C>G rs1376429966 0.00001
NM_005609.4(PYGM):c.1403+2dup rs1489442842 0.00001
NM_005609.4(PYGM):c.1404-16C>T rs1246683334 0.00001
NM_005609.4(PYGM):c.1404-20C>T rs370135154 0.00001
NM_005609.4(PYGM):c.1437G>A (p.Lys479=) rs2058368149 0.00001
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp) rs765612286 0.00001
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln) rs1592410540 0.00001
NM_005609.4(PYGM):c.1477del (p.Leu493fs) rs2058367842 0.00001
NM_005609.4(PYGM):c.150A>G (p.Arg50=) rs938250313 0.00001
NM_005609.4(PYGM):c.1518+15T>C rs749942955 0.00001
NM_005609.4(PYGM):c.1518+9C>G rs1210456408 0.00001
NM_005609.4(PYGM):c.1519-10C>T rs749087795 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.152A>G (p.Asp51Gly) rs397514631 0.00001
NM_005609.4(PYGM):c.1533C>G (p.Asp511Glu) rs766794236 0.00001
NM_005609.4(PYGM):c.1536C>T (p.Phe512=) rs1487145634 0.00001
NM_005609.4(PYGM):c.1540T>G (p.Ser514Ala) rs1287109702 0.00001
NM_005609.4(PYGM):c.1575T>C (p.Phe525=) rs371787613 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+15A>C rs1463934943 0.00001
NM_005609.4(PYGM):c.1620+3G>T rs548943016 0.00001
NM_005609.4(PYGM):c.1621-14G>A rs770892872 0.00001
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr) rs119103252 0.00001
NM_005609.4(PYGM):c.1672A>G (p.Ile558Val) rs1204741662 0.00001
NM_005609.4(PYGM):c.1673dup (p.Asn559fs) rs1354208416 0.00001
NM_005609.4(PYGM):c.1686A>C (p.Ser562=) rs1298904837 0.00001
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe) rs746276802 0.00001
NM_005609.4(PYGM):c.1695C>T (p.Asp565=) rs2058360148 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1709G>A (p.Arg570Gln) rs143550601 0.00001
NM_005609.4(PYGM):c.1722T>C (p.Tyr574=) rs119103260 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 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.1761G>A (p.Leu587=) rs1395637502 0.00001
NM_005609.4(PYGM):c.1768+13C>G rs1317254292 0.00001
NM_005609.4(PYGM):c.1768+19A>G rs758384844 0.00001
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00001
NM_005609.4(PYGM):c.1768+9C>T rs1415602372 0.00001
NM_005609.4(PYGM):c.1769-10T>G rs1565534037 0.00001
NM_005609.4(PYGM):c.1769-4A>C rs1592409359 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.1804C>T (p.Arg602Trp) rs750195683 0.00001
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr) rs1254930380 0.00001
NM_005609.4(PYGM):c.1827+9C>T rs765020570 0.00001
NM_005609.4(PYGM):c.1827G>A (p.Lys609=) rs119103259 0.00001
NM_005609.4(PYGM):c.1828-11T>C rs769114342 0.00001
NM_005609.4(PYGM):c.1828-16G>C rs774813037 0.00001
NM_005609.4(PYGM):c.1828-5C>T rs775492066 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.1845C>T (p.His615=) rs552502008 0.00001
NM_005609.4(PYGM):c.192C>T (p.Leu64=) rs912904130 0.00001
NM_005609.4(PYGM):c.1941G>A (p.Glu647=) rs754483073 0.00001
NM_005609.4(PYGM):c.1944C>T (p.Asn648=) rs748710834 0.00001
NM_005609.4(PYGM):c.1953C>T (p.Val651=) rs2058354200 0.00001
NM_005609.4(PYGM):c.1962C>T (p.Ala654=) rs368964406 0.00001
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys) rs119103253 0.00001
NM_005609.4(PYGM):c.1970-19C>T rs537230893 0.00001
NM_005609.4(PYGM):c.1970-5C>T rs1414755282 0.00001
NM_005609.4(PYGM):c.198G>C (p.Gly66=) rs776064700 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.2028C>A (p.Gly676=) rs1423059720 0.00001
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser) rs765656412 0.00001
NM_005609.4(PYGM):c.2070T>C (p.Ile690=) rs766360254 0.00001
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072 0.00001
NM_005609.4(PYGM):c.2085G>A (p.Gly695=) rs147725917 0.00001
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val) rs1483102315 0.00001
NM_005609.4(PYGM):c.2121A>G (p.Glu707=) rs746678142 0.00001
NM_005609.4(PYGM):c.2127C>T (p.Phe709=) rs1007363915 0.00001
NM_005609.4(PYGM):c.2136T>C (p.Phe712=) rs2058346910 0.00001
NM_005609.4(PYGM):c.2177+15G>A rs759490480 0.00001
NM_005609.4(PYGM):c.2177+8G>A rs775261125 0.00001
NM_005609.4(PYGM):c.2184T>C (p.Asn728=) rs1009359544 0.00001
NM_005609.4(PYGM):c.2190G>A (p.Gln730=) rs1301806354 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.2271C>T (p.Asp757=) rs1312751218 0.00001
NM_005609.4(PYGM):c.2274G>A (p.Leu758=) rs765011069 0.00001
NM_005609.4(PYGM):c.2306A>C (p.His769Pro) rs771421657 0.00001
NM_005609.4(PYGM):c.2312+15C>T rs748356461 0.00001
NM_005609.4(PYGM):c.2313-4C>T rs1163053695 0.00001
NM_005609.4(PYGM):c.2322C>T (p.Val774=) rs1045215677 0.00001
NM_005609.4(PYGM):c.2325C>T (p.Phe775=) rs1251258706 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.2364C>T (p.Val788=) rs1162487973 0.00001
NM_005609.4(PYGM):c.2367C>T (p.Ser789=) rs750356895 0.00001
NM_005609.4(PYGM):c.2376C>T (p.Tyr792=) rs993514288 0.00001
NM_005609.4(PYGM):c.2380-14C>T rs1275648495 0.00001
NM_005609.4(PYGM):c.2380-15C>G rs749501817 0.00001
NM_005609.4(PYGM):c.2380-7C>T rs769601153 0.00001
NM_005609.4(PYGM):c.2385_2386del (p.Glu797fs) rs750080547 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.2397G>A (p.Thr799=) rs374322115 0.00001
NM_005609.4(PYGM):c.2406G>C (p.Val802=) rs1166335998 0.00001
NM_005609.4(PYGM):c.2424C>T (p.Thr808=) rs769860534 0.00001
NM_005609.4(PYGM):c.2427T>C (p.Ser809=) rs746117656 0.00001
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro) rs1213033233 0.00001
NM_005609.4(PYGM):c.244-14G>A rs1038090665 0.00001
NM_005609.4(PYGM):c.244-7T>C rs773415576 0.00001
NM_005609.4(PYGM):c.2451C>T (p.Thr817=) rs2058311690 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.2466C>T (p.Ala822=) rs778504471 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.2514G>A (p.Pro838=) rs759671853 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.280C>T (p.Arg94Trp) rs370247862 0.00001
NM_005609.4(PYGM):c.285G>A (p.Thr95=) rs1392346032 0.00001
NM_005609.4(PYGM):c.30A>G (p.Lys10=) rs140938550 0.00001
NM_005609.4(PYGM):c.31A>C (p.Arg11=) rs776312721 0.00001
NM_005609.4(PYGM):c.327T>C (p.Cys109=) rs1488873157 0.00001
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile) rs147571836 0.00001
NM_005609.4(PYGM):c.345+12G>T rs2058411027 0.00001
NM_005609.4(PYGM):c.346-12T>C rs762682809 0.00001
NM_005609.4(PYGM):c.346-19G>A rs371405608 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.414C>T (p.Gly138=) rs757263362 0.00001
NM_005609.4(PYGM):c.417G>T (p.Arg139=) rs1247168884 0.00001
NM_005609.4(PYGM):c.420G>A (p.Leu140=) rs2496670731 0.00001
NM_005609.4(PYGM):c.456C>G (p.Gly152=) rs2058407955 0.00001
NM_005609.4(PYGM):c.462C>T (p.Ala154=) rs1410374422 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.489G>A (p.Glu163=) rs767119000 0.00001
NM_005609.4(PYGM):c.528+13G>A rs571044373 0.00001
NM_005609.4(PYGM):c.529-12C>T rs1432251631 0.00001
NM_005609.4(PYGM):c.529-18G>C rs2496668859 0.00001
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn) rs551666681 0.00001
NM_005609.4(PYGM):c.549G>A (p.Trp183Ter) rs1223885403 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.609C>T (p.Phe203=) rs749382405 0.00001
NM_005609.4(PYGM):c.60C>T (p.Ala20=) rs770037071 0.00001
NM_005609.4(PYGM):c.618T>A (p.His206Gln) rs371343340 0.00001
NM_005609.4(PYGM):c.630C>T (p.Thr210=) rs115141783 0.00001
NM_005609.4(PYGM):c.660+18G>T rs1171799878 0.00001
NM_005609.4(PYGM):c.661-601G>A rs1474863903 0.00001
NM_005609.4(PYGM):c.678C>T (p.Pro226=) rs754536168 0.00001
NM_005609.4(PYGM):c.687G>A (p.Thr229=) rs764624576 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.723C>T (p.Thr241=) rs772848708 0.00001
NM_005609.4(PYGM):c.732C>G (p.Leu244=) rs542897023 0.00001
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675 0.00001
NM_005609.4(PYGM):c.768G>A (p.Lys256=) rs1357815816 0.00001
NM_005609.4(PYGM):c.773-6C>T rs1367711630 0.00001
NM_005609.4(PYGM):c.773-7C>T rs1413766441 0.00001
NM_005609.4(PYGM):c.78_79del (p.Glu27fs) rs755117847 0.00001
NM_005609.4(PYGM):c.799G>C (p.Val267Leu) rs756281352 0.00001
NM_005609.4(PYGM):c.802T>C (p.Leu268=) rs750576348 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.82C>T (p.Leu28=) rs1592417170 0.00001
NM_005609.4(PYGM):c.84G>A (p.Leu28=) rs752615989 0.00001
NM_005609.4(PYGM):c.855+20G>A rs756389023 0.00001
NM_005609.4(PYGM):c.855+5G>A rs748486465 0.00001
NM_005609.4(PYGM):c.856-6C>A rs2058383849 0.00001
NM_005609.4(PYGM):c.856-8G>A rs759072956 0.00001
NM_005609.4(PYGM):c.861C>T (p.Phe287=) rs768833092 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.963T>C (p.Asp321=) rs772678994 0.00001
NM_005609.4(PYGM):c.967G>T (p.Val323Leu) rs770104418 0.00001
NM_005609.4(PYGM):c.975G>A (p.Thr325=) rs747106887 0.00001
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser) rs886048463 0.00001
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.(?_64513860)_(64514831_64517847)del
NC_000011.9:g.(?_64514121)_(64518065_?)del
NC_000011.9:g.(?_64517828)_(64523631_?)dup
NC_000011.9:g.(?_64517838)_(64522318_?)del
NC_000011.9:g.(?_64518135)_(64519387_?)del
NC_000011.9:g.(?_64520525)_(64523631_?)dup
NC_000011.9:g.(?_64520971)_(64526196_?)del
NC_000011.9:g.(?_64522725)_(64527370_?)del
NC_000011.9:g.(?_64525241)_(64527380_?)del
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.1000-12C>T rs2496660129
NM_005609.4(PYGM):c.1000-15C>T rs2496660151
NM_005609.4(PYGM):c.1000-15del rs2496660155
NM_005609.4(PYGM):c.1000-16_1000-9del
NM_005609.4(PYGM):c.1000-17C>T rs748394718
NM_005609.4(PYGM):c.1000-18C>T rs2496660172
NM_005609.4(PYGM):c.1000-20G>T rs2496660185
NM_005609.4(PYGM):c.1000-24_1000-14dup rs2496660144
NM_005609.4(PYGM):c.1000-6C>T rs2135834766
NM_005609.4(PYGM):c.1000-9C>G rs2135834771
NM_005609.4(PYGM):c.1005del (p.Ile336fs)
NM_005609.4(PYGM):c.1009C>T (p.Gln337Ter) rs2135834746
NM_005609.4(PYGM):c.100C>A (p.Arg34=) rs531748591
NM_005609.4(PYGM):c.1010A>G (p.Gln337Arg) rs1223701129
NM_005609.4(PYGM):c.1015A>T (p.Asn339Tyr)
NM_005609.4(PYGM):c.101G>A (p.Arg34Gln) rs753484236
NM_005609.4(PYGM):c.1020C>T (p.Asp340=) rs1376160425
NM_005609.4(PYGM):c.1022C>A (p.Thr341Asn)
NM_005609.4(PYGM):c.1032C>T (p.Ser344=) rs1196496498
NM_005609.4(PYGM):c.1041C>T (p.Ile347=)
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs) rs2496659881
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys) rs2496659888
NM_005609.4(PYGM):c.1048C>T (p.Leu350=) rs1391890581
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys) rs759846298
NM_005609.4(PYGM):c.1059C>A (p.Ile353=) rs766772774
NM_005609.4(PYGM):c.105C>T (p.His35=) rs2058422236
NM_005609.4(PYGM):c.1068C>T (p.Asp356=) rs2496659826
NM_005609.4(PYGM):c.106C>T (p.Leu36=) rs2496675600
NM_005609.4(PYGM):c.1072del (p.Glu358fs) rs2496659813
NM_005609.4(PYGM):c.108del (p.His37fs) rs2496675586
NM_005609.4(PYGM):c.1092+1G>C rs749560316
NM_005609.4(PYGM):c.1093-10del rs1304298343
NM_005609.4(PYGM):c.1093-13C>A rs1290824411
NM_005609.4(PYGM):c.1093-13dup rs1304298343
NM_005609.4(PYGM):c.1093-16C>G rs2058377692
NM_005609.4(PYGM):c.1093-18G>T rs2496659143
NM_005609.4(PYGM):c.1093-1G>C rs1163710370
NM_005609.4(PYGM):c.1093-1G>T rs1163710370
NM_005609.4(PYGM):c.1093-20C>T rs2496659147
NM_005609.4(PYGM):c.1093-2A>T rs2496659071
NM_005609.4(PYGM):c.1093-3C>T rs2058377505
NM_005609.4(PYGM):c.1093-6T>C rs1302268797
NM_005609.4(PYGM):c.1093-9G>A rs571244371
NM_005609.4(PYGM):c.1098G>A (p.Trp366Ter) rs1477931501
NM_005609.4(PYGM):c.110A>G (p.His37Arg) rs1170598133
NM_005609.4(PYGM):c.1113G>A (p.Arg371=) rs777245778
NM_005609.4(PYGM):c.1114del (p.Thr372fs) rs2496658982
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter) rs2058377004
NM_005609.4(PYGM):c.111T>C (p.His37=) rs2135842719
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.1128C>T (p.Thr376=) rs1455917591
NM_005609.4(PYGM):c.112_122del (p.Phe38fs) rs2058422018
NM_005609.4(PYGM):c.1134C>A (p.His378Gln) rs2135834122
NM_005609.4(PYGM):c.1137G>A (p.Thr379=) rs756447366
NM_005609.4(PYGM):c.1137G>T (p.Thr379=) rs756447366
NM_005609.4(PYGM):c.1138_1144del (p.Val380fs) rs2135834073
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.1149G>A (p.Glu383=) rs1565535654
NM_005609.4(PYGM):c.114C>T (p.Phe38=) rs766021534
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1162_1169delinsA (p.Trp388fs) rs2058376262
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.1176C>G (p.Leu392=) rs374770169
NM_005609.4(PYGM):c.1179G>A (p.Leu393=) rs2058376050
NM_005609.4(PYGM):c.117A>G (p.Thr39=) rs2135842695
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.1195C>A (p.Arg399=) rs747675778
NM_005609.4(PYGM):c.1195C>T (p.Arg399Trp)
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr) rs2058375583
NM_005609.4(PYGM):c.119_120del (p.Leu40fs)
NM_005609.4(PYGM):c.1206G>A (p.Gln402=) rs1565535543
NM_005609.4(PYGM):c.120C>A (p.Leu40=) rs370819554
NM_005609.4(PYGM):c.120C>G (p.Leu40=) rs370819554
NM_005609.4(PYGM):c.120_121insA (p.Val41fs) rs2496675487
NM_005609.4(PYGM):c.1212C>T (p.Ile404=) rs2135833826
NM_005609.4(PYGM):c.1218G>A (p.Glu406=) rs757762621
NM_005609.4(PYGM):c.1219A>G (p.Ile407Val) rs2058375350
NM_005609.4(PYGM):c.1220T>G (p.Ile407Ser)
NM_005609.4(PYGM):c.1224C>T (p.Asn408=) rs1440882452
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys) rs764712114
NM_005609.4(PYGM):c.122_126del (p.Val41fs) rs2496675449
NM_005609.4(PYGM):c.1236C>T (p.Leu412=)
NM_005609.4(PYGM):c.1239+17G>T rs1356901821
NM_005609.4(PYGM):c.1239+1G>T rs759657964
NM_005609.4(PYGM):c.1239+8C>A rs886048461
NM_005609.4(PYGM):c.1239C>A (p.Asn413Lys) rs369313102
NM_005609.4(PYGM):c.1239_1239+1delinsAT rs2135833743
NM_005609.4(PYGM):c.1240-13_1240-12delinsAA rs2135833430
NM_005609.4(PYGM):c.1240-19C>A rs2496657648
NM_005609.4(PYGM):c.1240-2A>G rs1212333772
NM_005609.4(PYGM):c.1240-9T>C rs2135833424
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp) rs11231866
NM_005609.4(PYGM):c.1242G>A (p.Arg414=) rs2496657571
NM_005609.4(PYGM):c.1245G>A (p.Val415=) rs2135833386
NM_005609.4(PYGM):c.1248G>C (p.Ala416=) rs1439165952
NM_005609.4(PYGM):c.1251C>G (p.Ala417=) rs1328262607
NM_005609.4(PYGM):c.125del (p.Lys42fs) rs2496675458
NM_005609.4(PYGM):c.1260A>C (p.Pro420=) rs2135833329
NM_005609.4(PYGM):c.1260A>T (p.Pro420=) rs2135833329
NM_005609.4(PYGM):c.1263G>A (p.Gly421=) rs2135833320
NM_005609.4(PYGM):c.1263G>C (p.Gly421=) rs2135833320
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn) rs562393971
NM_005609.4(PYGM):c.1265_1275del (p.Asp422fs)
NM_005609.4(PYGM):c.126G>A (p.Lys42=) rs2496675443
NM_005609.4(PYGM):c.1273C>A (p.Arg425=) rs577821154
NM_005609.4(PYGM):c.1273C>T (p.Arg425Trp) rs577821154
NM_005609.4(PYGM):c.1275G>T (p.Arg425=) rs754958776
NM_005609.4(PYGM):c.1275dup (p.Leu426fs) rs2135833290
NM_005609.4(PYGM):c.1276C>T (p.Leu426=) rs1222482593
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs) rs2058372554
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys) rs750700202
NM_005609.4(PYGM):c.1284C>T (p.Arg428=) rs2496657364
NM_005609.4(PYGM):c.1293G>A (p.Leu431=)
NM_005609.4(PYGM):c.1298AGG[1] (p.Glu434del) rs2496657306
NM_005609.4(PYGM):c.129_150del (p.Asp43fs) rs2058421657
NM_005609.4(PYGM):c.1305C>A (p.Gly435=) rs1433618435
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1320C>A (p.Ile440=) rs2135833170
NM_005609.4(PYGM):c.1323C>T (p.Asn441=) rs1202544673
NM_005609.4(PYGM):c.1331A>G (p.His444Arg)
NM_005609.4(PYGM):c.1333C>T (p.Leu445=) rs2135833136
NM_005609.4(PYGM):c.1335G>C (p.Leu445=)
NM_005609.4(PYGM):c.1338C>T (p.Cys446=) rs1310037554
NM_005609.4(PYGM):c.1338_1341dup (p.Ala448fs) rs2496657019
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu) rs568496266
NM_005609.4(PYGM):c.1341C>T (p.Ile447=) rs1483894861
NM_005609.4(PYGM):c.1346G>A (p.Gly449Glu)
NM_005609.4(PYGM):c.1346G>C (p.Gly449Ala)
NM_005609.4(PYGM):c.134del (p.Asn45fs) rs2496675394
NM_005609.4(PYGM):c.1350G>A (p.Ser450=) rs1399322723
NM_005609.4(PYGM):c.1350G>T (p.Ser450=) rs1399322723
NM_005609.4(PYGM):c.1352_1372del (p.His451_Ala457del) rs2496656801
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile) rs2496656917
NM_005609.4(PYGM):c.1356C>G (p.Ala452=) rs756953943
NM_005609.4(PYGM):c.1356C>T (p.Ala452=) rs756953943
NM_005609.4(PYGM):c.1357G>T (p.Val453Phe) rs151213354
NM_005609.4(PYGM):c.1358_1364del (p.Val453fs) rs2135833005
NM_005609.4(PYGM):c.135T>C (p.Asn45=) rs2058421873
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del) rs2496656680
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg) rs201042910
NM_005609.4(PYGM):c.1365C>G (p.Gly455=) rs1056780
NM_005609.4(PYGM):c.1371G>T (p.Ala457=) rs766082496
NM_005609.4(PYGM):c.1373G>A (p.Arg458His)
NM_005609.4(PYGM):c.1374C>T (p.Arg458=) rs1296087687
NM_005609.4(PYGM):c.1379A>G (p.His460Arg) rs2135832903
NM_005609.4(PYGM):c.1379_1383dup (p.Glu462fs) rs2496656745
NM_005609.4(PYGM):c.1383C>G (p.Ser461=) rs775978754
NM_005609.4(PYGM):c.1389C>T (p.Ile463=) rs2496656727
NM_005609.4(PYGM):c.138G>A (p.Val46=) rs776928047
NM_005609.4(PYGM):c.1398G>A (p.Lys466=) rs2496656661
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val) rs757470750
NM_005609.4(PYGM):c.1403+12T>C rs2058370785
NM_005609.4(PYGM):c.1403+1G>A rs1191939323
NM_005609.4(PYGM):c.1403+1dup rs2496656641
NM_005609.4(PYGM):c.1403+7C>A rs2135832833
NM_005609.4(PYGM):c.1403+7C>T rs2135832833
NM_005609.4(PYGM):c.1403+8C>A rs2496656609
NM_005609.4(PYGM):c.1404-1G>C
NM_005609.4(PYGM):c.1404-4G>T rs1397436069
NM_005609.4(PYGM):c.1404-9A>C rs2135832402
NM_005609.4(PYGM):c.1406T>C (p.Phe469Ser)
NM_005609.4(PYGM):c.1419T>C (p.Tyr473=) rs115556379
NM_005609.4(PYGM):c.141C>T (p.Ala47=) rs771293025
NM_005609.4(PYGM):c.141del (p.Thr48fs) rs2496675352
NM_005609.4(PYGM):c.1431T>A (p.Pro477=) rs2135832336
NM_005609.4(PYGM):c.1440C>T (p.Phe480=) rs2135832303
NM_005609.4(PYGM):c.1443G>C (p.Gln481His) rs767125939
NM_005609.4(PYGM):c.1446_1447dup (p.Lys483fs) rs2496655318
NM_005609.4(PYGM):c.1448A>C (p.Lys483Thr) rs2135832293
NM_005609.4(PYGM):c.1458C>G (p.Gly486=) rs2496655283
NM_005609.4(PYGM):c.1461C>A (p.Ile487=) rs2496655273
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.1466dup (p.Arg490fs) rs886041476
NM_005609.4(PYGM):c.1468C>G (p.Arg490Gly)
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro) rs1592410540
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter) rs2496655165
NM_005609.4(PYGM):c.1477C>A (p.Leu493Met)
NM_005609.4(PYGM):c.1495G>A (p.Gly499Arg)
NM_005609.4(PYGM):c.1498C>T (p.Leu500=) rs2058367583
NM_005609.4(PYGM):c.1506G>A (p.Glu502=) rs2058367541
NM_005609.4(PYGM):c.1507del (p.Val503fs) rs1272600960
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser) rs2496655040
NM_005609.4(PYGM):c.1515T>C (p.Ala505=) rs2496655027
NM_005609.4(PYGM):c.1518+10C>T rs2496655003
NM_005609.4(PYGM):c.1518+12C>T rs2058367314
NM_005609.4(PYGM):c.1518+18G>A rs2496654988
NM_005609.4(PYGM):c.1518+20C>T
NM_005609.4(PYGM):c.1518+7G>C rs749236693
NM_005609.4(PYGM):c.1519-11T>C rs2496653824
NM_005609.4(PYGM):c.1519-13C>G rs369197486
NM_005609.4(PYGM):c.1519-13C>T rs369197486
NM_005609.4(PYGM):c.1519-14C>A rs2496653836
NM_005609.4(PYGM):c.1519-1G>A rs2135831491
NM_005609.4(PYGM):c.1519-2A>G
NM_005609.4(PYGM):c.1519-3T>G
NM_005609.4(PYGM):c.1519-4A>G rs1359033480
NM_005609.4(PYGM):c.1519-5C>T rs1006803617
NM_005609.4(PYGM):c.1519-5del rs1592410115
NM_005609.4(PYGM):c.1523del (p.Ile508fs) rs2135831473
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met) rs540436223
NM_005609.4(PYGM):c.1524C>T (p.Ile508=) rs540436223
NM_005609.4(PYGM):c.1527_1530delinsTGA (p.Asp511fs) rs1057516612
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) rs2058363821
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu) rs766794236
NM_005609.4(PYGM):c.1542T>C (p.Ser514=) rs2135831386
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs) rs2058363627
NM_005609.4(PYGM):c.1551C>T (p.Asp517=) rs1467786333
NM_005609.4(PYGM):c.1555C>T (p.Leu519=) rs774694090
NM_005609.4(PYGM):c.1561A>T (p.Lys521Ter) rs1592410003
NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro) rs2496653538
NM_005609.4(PYGM):c.1569C>T (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.156C>T (p.Tyr52=) rs2496675270
NM_005609.4(PYGM):c.157del (p.Tyr53fs) rs2135842587
NM_005609.4(PYGM):c.15G>C (p.Leu5=) rs886038565
NM_005609.4(PYGM):c.1602T>C (p.Asp534=) rs2135831234
NM_005609.4(PYGM):c.1608C>G (p.Ala536=) rs2058362978
NM_005609.4(PYGM):c.1608C>T (p.Ala536=) rs2058362978
NM_005609.4(PYGM):c.1614G>A (p.Val538=) rs747854789
NM_005609.4(PYGM):c.1620+13G>A rs756571939
NM_005609.4(PYGM):c.1620+16A>G rs2496653352
NM_005609.4(PYGM):c.1620+1G>A rs1256894448
NM_005609.4(PYGM):c.1620+1G>T rs1256894448
NM_005609.4(PYGM):c.1620+5G>T rs2135831177
NM_005609.4(PYGM):c.1620+6G>A rs2058362817
NM_005609.4(PYGM):c.1620+7A>G rs2496653368
NM_005609.4(PYGM):c.1620G>T (p.Gln540His)
NM_005609.4(PYGM):c.1621-11T>G
NM_005609.4(PYGM):c.1621-13T>A
NM_005609.4(PYGM):c.1621-17C>T rs2496652769
NM_005609.4(PYGM):c.1621-18C>G rs2496652775
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005609.4(PYGM):c.1621-20T>C rs2496652788
NM_005609.4(PYGM):c.1621-8G>A rs2496652737
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.1626C>T (p.Asn542=) rs1258378979
NM_005609.4(PYGM):c.1629G>A (p.Lys543=) rs2058360665
NM_005609.4(PYGM):c.1629G>T (p.Lys543Asn)
NM_005609.4(PYGM):c.1630T>C (p.Leu544=) rs973893149
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs) rs2496652676
NM_005609.4(PYGM):c.1639G>T (p.Ala547Ser)
NM_005609.4(PYGM):c.164_168del (p.Ala55fs) rs780193588
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys) rs1311913891
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter) rs1311913891
NM_005609.4(PYGM):c.1668C>T (p.Val556=)
NM_005609.4(PYGM):c.166C>T (p.Leu56=) rs2135842567
NM_005609.4(PYGM):c.1680del (p.Asn561fs) rs1057516259
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.1717G>T (p.Glu573Ter) rs752848974
NM_005609.4(PYGM):c.1719A>G (p.Glu573=) rs2135830648
NM_005609.4(PYGM):c.1721A>G (p.Tyr574Cys)
NM_005609.4(PYGM):c.1722T>A (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter) rs119103260
NM_005609.4(PYGM):c.1725del (p.Lys575fs) rs786200874
NM_005609.4(PYGM):c.1726C>A (p.Arg576=) rs119103255
NM_005609.4(PYGM):c.1731G>A (p.Gln577=) rs2058359726
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.1734C>T (p.Leu578=) rs2496652363
NM_005609.4(PYGM):c.1737C>T (p.Leu579=) rs2496652354
NM_005609.4(PYGM):c.1742del (p.Cys581fs) rs1592409631
NM_005609.4(PYGM):c.1744C>T (p.Leu582Phe)
NM_005609.4(PYGM):c.1752C>T (p.Val584=) rs1482354392
NM_005609.4(PYGM):c.1758C>T (p.Thr586=) rs2135830553
NM_005609.4(PYGM):c.1761_1765del (p.Tyr588fs) rs2496652253
NM_005609.4(PYGM):c.1764C>T (p.Tyr588=) rs773847993
NM_005609.4(PYGM):c.1768+17C>G rs1416878455
NM_005609.4(PYGM):c.1768+8_1768+11dup rs2496652198
NM_005609.4(PYGM):c.1769-12G>C rs377117150
NM_005609.4(PYGM):c.1769-1G>A rs2058357329
NM_005609.4(PYGM):c.1769-8C>T rs2135830209
NM_005609.4(PYGM):c.1769-9T>A rs1022322449
NM_005609.4(PYGM):c.1774A>T (p.Lys592Ter) rs2135830163
NM_005609.4(PYGM):c.1776G>A (p.Lys592=) rs2496651534
NM_005609.4(PYGM):c.177C>A (p.Thr59=) rs753355735
NM_005609.4(PYGM):c.177C>T (p.Thr59=) rs753355735
NM_005609.4(PYGM):c.1788T>C (p.Asn596=) rs749501772
NM_005609.4(PYGM):c.1791G>A (p.Lys597=) rs1392210978
NM_005609.4(PYGM):c.1797del (p.Phe599fs) rs769960481
NM_005609.4(PYGM):c.1809T>C (p.Thr603=) rs2135830103
NM_005609.4(PYGM):c.180G>A (p.Val60=) rs1395197579
NM_005609.4(PYGM):c.1810G>C (p.Val604Leu)
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys) rs1413461008
NM_005609.4(PYGM):c.1824G>C (p.Gly608=) rs968462901
NM_005609.4(PYGM):c.1827+10C>T rs1255226594
NM_005609.4(PYGM):c.1827+13G>C rs759290790
NM_005609.4(PYGM):c.1827+17C>T rs2496651327
NM_005609.4(PYGM):c.1827+18A>C rs2496651324
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1827+20C>T rs2058356597
NM_005609.4(PYGM):c.1827+9C>A rs765020570
NM_005609.4(PYGM):c.1828-11_1828-9del rs771292862
NM_005609.4(PYGM):c.1828-19C>T rs762136807
NM_005609.4(PYGM):c.1828-1G>A rs1394587447
NM_005609.4(PYGM):c.1828-1G>T rs1394587447
NM_005609.4(PYGM):c.1828-2A>G rs2135829883
NM_005609.4(PYGM):c.1828-5C>A rs775492066
NM_005609.4(PYGM):c.1828-7C>A rs763476986
NM_005609.4(PYGM):c.1828-8C>T rs2135829892
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.1842C>T (p.Tyr614=) rs2496650974
NM_005609.4(PYGM):c.1846A>G (p.Met616Val)
NM_005609.4(PYGM):c.1853dup (p.Met619fs) rs2135829844
NM_005609.4(PYGM):c.1860del (p.Ile621fs)
NM_005609.4(PYGM):c.1863C>T (p.Ile621=) rs1592409104
NM_005609.4(PYGM):c.1869C>A (p.Leu623=) rs144764922
NM_005609.4(PYGM):c.1874C>T (p.Thr625Ile) rs1374947591
NM_005609.4(PYGM):c.1902C>T (p.Asp634=) rs776043985
NM_005609.4(PYGM):c.1913G>A (p.Gly638Asp)
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr) rs1592409000
NM_005609.4(PYGM):c.1917C>T (p.Asp639=) rs1565533767
NM_005609.4(PYGM):c.1923C>G (p.Leu641=) rs2496650727
NM_005609.4(PYGM):c.193G>C (p.Val65Leu) rs149658961
NM_005609.4(PYGM):c.1947C>T (p.Tyr649=) rs2496650660
NM_005609.4(PYGM):c.1948del (p.Arg650fs) rs2058354383
NM_005609.4(PYGM):c.194dup (p.Arg67fs) rs2496675044
NM_005609.4(PYGM):c.1953C>A (p.Val651=) rs2058354200
NM_005609.4(PYGM):c.1956_1962del (p.Leu653fs) rs2496650595
NM_005609.4(PYGM):c.1962C>A (p.Ala654=) rs368964406
NM_005609.4(PYGM):c.1962C>G (p.Ala654=) rs368964406
NM_005609.4(PYGM):c.1969+16_1969+17del rs2496650518
NM_005609.4(PYGM):c.1969+1G>A rs753181427
NM_005609.4(PYGM):c.1969+1G>C rs753181427
NM_005609.4(PYGM):c.1969+1G>T rs753181427
NM_005609.4(PYGM):c.1969+20A>G rs2496650500
NM_005609.4(PYGM):c.1969+7G>T rs2496650541
NM_005609.4(PYGM):c.1969+9T>C rs2135829592
NM_005609.4(PYGM):c.1969G>T (p.Val657Leu)
NM_005609.4(PYGM):c.1970-17dup rs1256951903
NM_005609.4(PYGM):c.1970-1G>A rs1057516598
NM_005609.4(PYGM):c.1970-1G>C
NM_005609.4(PYGM):c.1970-20C>T rs2496648873
NM_005609.4(PYGM):c.1970-20_1970-5dup rs747398326
NM_005609.4(PYGM):c.1970-2A>C rs1064797157
NM_005609.4(PYGM):c.1970-2A>T rs1064797157
NM_005609.4(PYGM):c.1970-4A>C rs919302363
NM_005609.4(PYGM):c.1970-5C>G rs1414755282
NM_005609.4(PYGM):c.1970-6C>T rs2496648834
NM_005609.4(PYGM):c.1974C>T (p.Ile658=) rs1215632787
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr) rs2496648766
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp) rs2496648756
NM_005609.4(PYGM):c.1986C>T (p.Asp662=) rs1592408469
NM_005609.4(PYGM):c.198del (p.Arg67fs) rs750857876
NM_005609.4(PYGM):c.1992T>C (p.Ser664=) rs1371838185
NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter) rs119103256
NM_005609.4(PYGM):c.199C>T (p.Arg67Cys)
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.1_12del (p.Met1_Pro4del)
NM_005609.4(PYGM):c.2001C>T (p.Ile667=) rs2058349107
NM_005609.4(PYGM):c.2007T>G (p.Thr669=) rs1330878809
NM_005609.4(PYGM):c.2009C>A (p.Ala670Glu)
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_005609.4(PYGM):c.2031C>A (p.Thr677=) rs372078244
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg) rs755716626
NM_005609.4(PYGM):c.2040_2041insCC (p.Lys681fs)
NM_005609.4(PYGM):c.2042A>T (p.Lys681Met)
NM_005609.4(PYGM):c.2043G>A (p.Lys681=) rs2058348408
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.204G>A (p.Trp68Ter) rs1057516349
NM_005609.4(PYGM):c.2053A>C (p.Asn685His) rs1592408348
NM_005609.4(PYGM):c.2057G>A (p.Gly686Glu) rs2496648421
NM_005609.4(PYGM):c.2064G>A (p.Leu688=) rs2496648394
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) rs1592408302
NM_005609.4(PYGM):c.2075_2076delinsAAA (p.Thr692fs)
NM_005609.4(PYGM):c.2076C>A (p.Thr692=) rs1186035337
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu) rs773543072
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp) rs768604948
NM_005609.4(PYGM):c.2085G>T (p.Gly695=) rs147725917
NM_005609.4(PYGM):c.2086G>A (p.Ala696Thr)
NM_005609.4(PYGM):c.2086dup (p.Ala696fs) rs2496648248
NM_005609.4(PYGM):c.2088C>T (p.Ala696=) rs2058347562
NM_005609.4(PYGM):c.208_210del (p.Arg70del) rs2496674944
NM_005609.4(PYGM):c.2091T>C (p.Asn697=) rs2135828504
NM_005609.4(PYGM):c.2094G>A (p.Val698=) rs2496648203
NM_005609.4(PYGM):c.2097G>A (p.Glu699=) rs2058347485
NM_005609.4(PYGM):c.2113_2114del (p.Gly705fs) rs2058347214
NM_005609.4(PYGM):c.2118G>A (p.Glu706=) rs2135828438
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile) rs2496648065
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2125_2143del (p.Phe709fs) rs2496647995
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.2133C>T (p.Ile711=) rs1227981579
NM_005609.4(PYGM):c.2136dup (p.Gly713fs) rs1057517067
NM_005609.4(PYGM):c.213G>T (p.Thr71=) rs771239946
NM_005609.4(PYGM):c.2143C>A (p.Arg715=) rs780656375
NM_005609.4(PYGM):c.2146dup (p.Val716fs) rs2496647974
NM_005609.4(PYGM):c.2151G>A (p.Glu717=) rs2496647914
NM_005609.4(PYGM):c.2154del (p.Asp718fs) rs2135828360
NM_005609.4(PYGM):c.2163G>A (p.Lys721=) rs2058346455
NM_005609.4(PYGM):c.216G>A (p.Gln72=) rs953878453
NM_005609.4(PYGM):c.2177+11C>G rs769677487
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T rs751875471
NM_005609.4(PYGM):c.2177+9G>A rs1592408105
NM_005609.4(PYGM):c.2177_2177+3del
NM_005609.4(PYGM):c.2178-12dup rs2496640091
NM_005609.4(PYGM):c.2178-14C>T
NM_005609.4(PYGM):c.2178-16A>T rs2496640098
NM_005609.4(PYGM):c.2178-4del rs1416496920
NM_005609.4(PYGM):c.2178-8C>T rs2496640068
NM_005609.4(PYGM):c.2178G>T (p.Gly726=)
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) rs1057517361
NM_005609.4(PYGM):c.2181C>G (p.Tyr727Ter) rs751710019
NM_005609.4(PYGM):c.2181dup (p.Asn728fs) rs2058321851
NM_005609.4(PYGM):c.2188_2189del (p.Gln730fs) rs2496639945
NM_005609.4(PYGM):c.2199C>G (p.Tyr733Ter) 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.2214G>A (p.Glu738=) rs772707447
NM_005609.4(PYGM):c.2219G>A (p.Arg740Gln)
NM_005609.4(PYGM):c.2220G>A (p.Arg740=) rs533583089
NM_005609.4(PYGM):c.2229T>C (p.Ile743=) rs1592405688
NM_005609.4(PYGM):c.222C>G (p.His74Gln) rs2496674881
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs) rs1057517058
NM_005609.4(PYGM):c.2238G>A (p.Leu746=) rs770352968
NM_005609.4(PYGM):c.2244T>C (p.Ser748=) rs746364616
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.2253C>T (p.Phe751=) rs1565531467
NM_005609.4(PYGM):c.2255C>T (p.Ser752Phe)
NM_005609.4(PYGM):c.2255_2264dup (p.Gln755fs) rs2058320138
NM_005609.4(PYGM):c.2259C>A (p.Pro753=) rs747072799
NM_005609.4(PYGM):c.2259C>G (p.Pro753=) rs747072799
NM_005609.4(PYGM):c.2259dup (p.Lys754fs) rs1565531453
NM_005609.4(PYGM):c.225C>A (p.Tyr75Ter) rs773361937
NM_005609.4(PYGM):c.2262del (p.Lys754fs) rs398124210
NM_005609.4(PYGM):c.2272C>T (p.Leu758=) rs2135824043
NM_005609.4(PYGM):c.2274G>T (p.Leu758=) rs765011069
NM_005609.4(PYGM):c.2274del (p.Phe759fs) rs2496639301
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs) rs2496639193
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln) rs754822104
NM_005609.4(PYGM):c.2280G>A (p.Lys760=) rs559739461
NM_005609.4(PYGM):c.2281G>A (p.Asp761Asn)
NM_005609.4(PYGM):c.2284A>G (p.Ile762Val)
NM_005609.4(PYGM):c.2289C>T (p.Val763=) rs2496639128
NM_005609.4(PYGM):c.228T>A (p.Tyr76Ter) rs2496674822
NM_005609.4(PYGM):c.2291A>G (p.Asn764Ser)
NM_005609.4(PYGM):c.2292T>C (p.Asn764=) rs1592405461
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.2307T>C (p.His769=) rs1347928620
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+10T>G rs1173087362
NM_005609.4(PYGM):c.2312+13_2312+50del rs1555133408
NM_005609.4(PYGM):c.2312+16del rs2496638836
NM_005609.4(PYGM):c.2312+17G>A rs753587035
NM_005609.4(PYGM):c.2312+19del rs2058318590
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2312+8G>C rs2496638888
NM_005609.4(PYGM):c.2312+9G>C rs2496638878
NM_005609.4(PYGM):c.2312G>T (p.Arg771Leu)
NM_005609.4(PYGM):c.2313-13C>T rs2496637697
NM_005609.4(PYGM):c.2313-16A>C rs2496637713
NM_005609.4(PYGM):c.2313-1G>A rs2496637644
NM_005609.4(PYGM):c.2313-2A>G
NM_005609.4(PYGM):c.2313-7C>T rs768815722
NM_005609.4(PYGM):c.2313-8C>T rs865978483
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn) rs2058315823
NM_005609.4(PYGM):c.2319del (p.Val774fs) rs1462767117
NM_005609.4(PYGM):c.2322C>A (p.Val774=) rs1045215677
NM_005609.4(PYGM):c.2331T>C (p.Asp777=) rs2135823373
NM_005609.4(PYGM):c.2334T>C (p.Tyr778=) rs2135823364
NM_005609.4(PYGM):c.2343C>T (p.Tyr781=) rs2496637461
NM_005609.4(PYGM):c.2355G>A (p.Gln785=) rs1592405031
NM_005609.4(PYGM):c.2356G>T (p.Glu786Ter) rs2496637381
NM_005609.4(PYGM):c.2358G>A (p.Glu786=) rs1467645013
NM_005609.4(PYGM):c.2361A>G (p.Lys787=) rs2135823301
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs) rs1565531128
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg) rs750356895
NM_005609.4(PYGM):c.2370C>T (p.Ala790=) rs2496637300
NM_005609.4(PYGM):c.2370del (p.Leu791fs) rs2058315149
NM_005609.4(PYGM):c.2371T>C (p.Leu791=) rs2496637290
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe) rs2058315104
NM_005609.4(PYGM):c.2379+10C>A rs2135823178
NM_005609.4(PYGM):c.2379+11C>A rs897892951
NM_005609.4(PYGM):c.2379+11C>T rs897892951
NM_005609.4(PYGM):c.2379+1G>A rs1295688123
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT rs2135823216
NM_005609.4(PYGM):c.2379+7G>A
NM_005609.4(PYGM):c.2380-16T>C rs2496636759
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2380-2A>G rs2496636643
NM_005609.4(PYGM):c.2380-6C>T rs2135822859
NM_005609.4(PYGM):c.2380-8A>G rs2058313587
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln) rs2496636587
NM_005609.4(PYGM):c.2385A>C (p.Pro795=) rs2135822804
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.2392T>G (p.Trp798Gly)
NM_005609.4(PYGM):c.2394del (p.Glu797_Trp798insTer) rs2496636484
NM_005609.4(PYGM):c.2398C>A (p.Arg800=) rs759260599
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln) rs1476157353
NM_005609.4(PYGM):c.2412G>C (p.Arg804=) rs199927544
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr) rs373305106
NM_005609.4(PYGM):c.241A>G (p.Lys81Glu)
NM_005609.4(PYGM):c.2421C>G (p.Ala807=) rs1565530863
NM_005609.4(PYGM):c.2422_2423dup (p.Ser809fs)
NM_005609.4(PYGM):c.2428G>A (p.Gly810Ser)
NM_005609.4(PYGM):c.243+13A>C rs2496674695
NM_005609.4(PYGM):c.243+14G>A rs1592416874
NM_005609.4(PYGM):c.243+14G>T rs1592416874
NM_005609.4(PYGM):c.243+16C>T rs768599199
NM_005609.4(PYGM):c.243+18G>C rs748753255
NM_005609.4(PYGM):c.243+1G>T
NM_005609.4(PYGM):c.243+20G>T
NM_005609.4(PYGM):c.243+8T>C rs2496674712
NM_005609.4(PYGM):c.2430C>T (p.Gly810=)
NM_005609.4(PYGM):c.2433G>A (p.Lys811=) rs1485657971
NM_005609.4(PYGM):c.244-15C>T rs572045103
NM_005609.4(PYGM):c.244-18A>G rs2496671897
NM_005609.4(PYGM):c.244-20C>G rs2496671907
NM_005609.4(PYGM):c.244-310_244-309insGGGCCTTGGCCTTGCCCTCCTGGGGAGCTCTTGGAGGCGCTTCCACATGTCCTGGCATCCTGCTGGGCTGTGCGG rs60191633
NM_005609.4(PYGM):c.244-4G>A rs2135840983
NM_005609.4(PYGM):c.244-5G>C rs772197464
NM_005609.4(PYGM):c.244-9T>C rs2496671854
NM_005609.4(PYGM):c.2445C>T (p.Asp815=) rs2496636086
NM_005609.4(PYGM):c.2448C>A (p.Arg816=) rs1225428523
NM_005609.4(PYGM):c.2448dup (p.Thr817fs) rs2135822512
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn) rs886048460
NM_005609.4(PYGM):c.2457C>G (p.Ala819=) rs1592404476
NM_005609.4(PYGM):c.2457C>T (p.Ala819=) rs1592404476
NM_005609.4(PYGM):c.2460G>A (p.Gln820=) rs537438002
NM_005609.4(PYGM):c.2465C>T (p.Ala822Val) rs747567834
NM_005609.4(PYGM):c.2469G>A (p.Arg823=) rs2058311186
NM_005609.4(PYGM):c.2487G>A (p.Glu829=) rs1199818497
NM_005609.4(PYGM):c.2490T>C (p.Pro830=) rs2135822307
NM_005609.4(PYGM):c.2493C>T (p.Ser831=) rs1255956938
NM_005609.4(PYGM):c.2496C>T (p.Arg832=) rs1592404365
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.251_261del (p.Tyr84fs) rs1057516329
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.2528G>T (p.Ter843Leu) rs1057516529
NM_005609.4(PYGM):c.253T>C (p.Tyr85His) rs373310140
NM_005609.4(PYGM):c.253del (p.Tyr85fs) rs1057516629
NM_005609.4(PYGM):c.254_257del (p.Tyr85fs) rs2135840945
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter) rs527236146
NM_005609.4(PYGM):c.260_261del (p.Ser87fs) rs757762109
NM_005609.4(PYGM):c.262_263del (p.Leu88fs) rs1555136540
NM_005609.4(PYGM):c.27G>A (p.Glu9=) rs2135842913
NM_005609.4(PYGM):c.285G>T (p.Thr95=)
NM_005609.4(PYGM):c.286C>T (p.Leu96=) rs2135840874
NM_005609.4(PYGM):c.297C>T (p.Thr99=) rs2496671564
NM_005609.4(PYGM):c.298A>T (p.Met100Leu)
NM_005609.4(PYGM):c.299T>G (p.Met100Arg)
NM_005609.4(PYGM):c.2T>C (p.Met1Thr) rs2058423391
NM_005609.4(PYGM):c.306C>T (p.Asn102=) rs2135840838
NM_005609.4(PYGM):c.307C>G (p.Leu103Val) rs2135840833
NM_005609.4(PYGM):c.316G>C (p.Glu106Gln)
NM_005609.4(PYGM):c.321T>C (p.Asn107=) rs756882699
NM_005609.4(PYGM):c.324C>T (p.Ala108=) rs2135840802
NM_005609.4(PYGM):c.333G>A (p.Glu111=) rs755449774
NM_005609.4(PYGM):c.345+11G>A rs760751053
NM_005609.4(PYGM):c.345+12G>A rs2058411027
NM_005609.4(PYGM):c.345+14G>A rs2496671342
NM_005609.4(PYGM):c.345+17G>C rs774602584
NM_005609.4(PYGM):c.345+17_345+18delinsAA rs2496671320
NM_005609.4(PYGM):c.345+18C>T rs763866615
NM_005609.4(PYGM):c.345+2TG[3] rs2496671403
NM_005609.4(PYGM):c.345+7G>A rs1730757719
NM_005609.4(PYGM):c.345+9G>A rs1370814699
NM_005609.4(PYGM):c.345G>C (p.Gln115His) rs2135840732
NM_005609.4(PYGM):c.346-11C>T rs1004401756
NM_005609.4(PYGM):c.346-13C>T rs2496671149
NM_005609.4(PYGM):c.346-16A>G rs764308665
NM_005609.4(PYGM):c.346-20T>A
NM_005609.4(PYGM):c.346-4C>T rs2135840541
NM_005609.4(PYGM):c.346-5T>C rs1016613332
NM_005609.4(PYGM):c.348G>A (p.Leu116=) rs1341899522
NM_005609.4(PYGM):c.352C>T (p.Leu118=) rs770341565
NM_005609.4(PYGM):c.354G>C (p.Leu118=) rs2496671070
NM_005609.4(PYGM):c.357C>T (p.Asp119=) rs1453865797
NM_005609.4(PYGM):c.358A>C (p.Met120Leu) rs886943655
NM_005609.4(PYGM):c.358A>G (p.Met120Val)
NM_005609.4(PYGM):c.369G>A (p.Leu123=) rs2496671001
NM_005609.4(PYGM):c.370G>T (p.Glu124Ter) rs1555136459
NM_005609.4(PYGM):c.373del (p.Glu125fs) rs2135840482
NM_005609.4(PYGM):c.384G>A (p.Glu128=) rs1437348857
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg) rs2058409644
NM_005609.4(PYGM):c.393del (p.Leu132fs) rs2496670899
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.396G>C (p.Leu132=) rs1205754818
NM_005609.4(PYGM):c.398del (p.Gly133fs) rs2496670866
NM_005609.4(PYGM):c.3G>A (p.Met1Ile) rs2496676087
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.405G>A (p.Gly135=) rs1448692146
NM_005609.4(PYGM):c.405G>T (p.Gly135=) rs1448692146
NM_005609.4(PYGM):c.406G>A (p.Gly136Ser) rs1246112610
NM_005609.4(PYGM):c.407G>T (p.Gly136Val)
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.407dup (p.Leu137fs)
NM_005609.4(PYGM):c.409C>T (p.Leu137=) rs1592415587
NM_005609.4(PYGM):c.414C>A (p.Gly138=) rs757263362
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly) rs367990192
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.418C>T (p.Leu140=) rs2135840331
NM_005609.4(PYGM):c.424+12G>C rs2496670658
NM_005609.4(PYGM):c.424+1G>A rs2496670715
NM_005609.4(PYGM):c.424+1G>T rs2496670715
NM_005609.4(PYGM):c.424+4A>G rs2496670707
NM_005609.4(PYGM):c.424+5G>A
NM_005609.4(PYGM):c.424+7A>C rs759436324
NM_005609.4(PYGM):c.424+8G>A rs2135840303
NM_005609.4(PYGM):c.424+8G>C rs2135840303
NM_005609.4(PYGM):c.424+9_424+12del rs1393111280
NM_005609.4(PYGM):c.425-10A>G rs2135840188
NM_005609.4(PYGM):c.425-18C>A rs2496670463
NM_005609.4(PYGM):c.425-18C>T rs2496670463
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.425-4C>T rs758523014
NM_005609.4(PYGM):c.425-5C>A rs2496670422
NM_005609.4(PYGM):c.425-5C>T rs2496670422
NM_005609.4(PYGM):c.425-6C>T rs2496670430
NM_005609.4(PYGM):c.438C>T (p.Asp146=) rs2496670379
NM_005609.4(PYGM):c.445_448del (p.Ala149fs) rs1057517400
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg) rs2135840127
NM_005609.4(PYGM):c.459G>C (p.Leu153=) rs775811645
NM_005609.4(PYGM):c.45T>C (p.Ser15=) rs2135842875
NM_005609.4(PYGM):c.45_67del (p.Ser15fs) rs2496675773
NM_005609.4(PYGM):c.462dup (p.Ala155fs) rs2496670286
NM_005609.4(PYGM):c.465C>T (p.Ala155=) rs2058407860
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp) rs2058407754
NM_005609.4(PYGM):c.470G>T (p.Gly157Val) rs2058407754
NM_005609.4(PYGM):c.471C>G (p.Gly157=)
NM_005609.4(PYGM):c.472dup (p.Tyr158fs) rs2496670236
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.47_57del (p.Val16fs) rs2496675835
NM_005609.4(PYGM):c.484T>C (p.Tyr162His)
NM_005609.4(PYGM):c.485_486del (p.Arg161_Tyr162insTer) rs2496670154
NM_005609.4(PYGM):c.493_514del (p.Gly165fs) rs2135839973
NM_005609.4(PYGM):c.495G>C (p.Gly165=) rs1207023836
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005609.4(PYGM):c.504C>T (p.Asn168=) rs2135840016
NM_005609.4(PYGM):c.505C>T (p.Gln169Ter) rs1278522566
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del) rs764823441
NM_005609.4(PYGM):c.510G>A (p.Lys170=) rs1214431808
NM_005609.4(PYGM):c.513C>T (p.Ile171=) rs2135839977
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) rs2058407169
NM_005609.4(PYGM):c.521dup (p.Trp175fs) rs2058407169
NM_005609.4(PYGM):c.522C>T (p.Gly174=) rs771328699
NM_005609.4(PYGM):c.527A>G (p.Gln176Arg)
NM_005609.4(PYGM):c.528+1G>A rs1262967083
NM_005609.4(PYGM):c.528+1G>T rs1262967083
NM_005609.4(PYGM):c.528+2T>G rs1057516468
NM_005609.4(PYGM):c.528+4AGC[3] rs2135839913
NM_005609.4(PYGM):c.528+9C>A rs371349986
NM_005609.4(PYGM):c.528+9C>G
NM_005609.4(PYGM):c.529-13_529-10del rs2496668824
NM_005609.4(PYGM):c.529-15C>G rs1395712454
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.548G>A (p.Trp183Ter)
NM_005609.4(PYGM):c.558C>G (p.Tyr186Ter) rs144298015
NM_005609.4(PYGM):c.558del (p.Arg185_Tyr186insTer) rs2496668696
NM_005609.4(PYGM):c.55C>T (p.Leu19=) rs535560622
NM_005609.4(PYGM):c.55dup (p.Leu19fs) rs2496675867
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys) rs604595
NM_005609.4(PYGM):c.564C>T (p.Asn188=) rs604595
NM_005609.4(PYGM):c.569G>A (p.Trp190Ter) rs2135839308
NM_005609.4(PYGM):c.578C>T (p.Ala193Val)
NM_005609.4(PYGM):c.579C>T (p.Ala193=) rs752345284
NM_005609.4(PYGM):c.580del (p.Arg194fs) rs2496668596
NM_005609.4(PYGM):c.582G>T (p.Arg194=) rs2135839278
NM_005609.4(PYGM):c.600T>A (p.Pro200=) rs2135839246
NM_005609.4(PYGM):c.60C>A (p.Ala20=) rs770037071
NM_005609.4(PYGM):c.613G>T (p.Gly205Cys)
NM_005609.4(PYGM):c.615C>T (p.Gly205=) rs781010056
NM_005609.4(PYGM):c.624G>A (p.Glu208=) rs2496668416
NM_005609.4(PYGM):c.627C>T (p.His209=) rs2135839184
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser) rs2496668403
NM_005609.4(PYGM):c.632del (p.Ser211fs) rs759015176
NM_005609.4(PYGM):c.633C>T (p.Ser211=) rs757861426
NM_005609.4(PYGM):c.642C>T (p.Ala214=) rs969141729
NM_005609.4(PYGM):c.648G>A (p.Trp216Ter) rs2496668328
NM_005609.4(PYGM):c.651G>T (p.Val217=) rs2496668310
NM_005609.4(PYGM):c.657A>G (p.Thr219=) rs754590975
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter) rs753533515
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.658del (p.Gln220fs) rs2496668297
NM_005609.4(PYGM):c.660+10A>G
NM_005609.4(PYGM):c.660+13C>T
NM_005609.4(PYGM):c.660+13_660+15del rs760532304
NM_005609.4(PYGM):c.660+18G>C rs1171799878
NM_005609.4(PYGM):c.660+1G>A rs1555136208
NM_005609.4(PYGM):c.660+9G>A rs2135839093
NM_005609.4(PYGM):c.661-10C>G rs759810824
NM_005609.4(PYGM):c.661-4G>C rs200126118
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.661-6_661-5dup
NM_005609.4(PYGM):c.661-7C>A rs2135836733
NM_005609.4(PYGM):c.661-9C>T rs776779910
NM_005609.4(PYGM):c.664G>C (p.Val222Leu)
NM_005609.4(PYGM):c.667C>G (p.Leu223Val) rs772025653
NM_005609.4(PYGM):c.667C>T (p.Leu223=) rs772025653
NM_005609.4(PYGM):c.674T>C (p.Met225Thr)
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs) rs2496664131
NM_005609.4(PYGM):c.679_686dup (p.Pro230fs)
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.67del (p.Glu23fs) rs2496675771
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter) rs377503100
NM_005609.4(PYGM):c.682G>A (p.Asp228Asn)
NM_005609.4(PYGM):c.682G>C (p.Asp228His)
NM_005609.4(PYGM):c.682del (p.Asp228fs) rs2058388882
NM_005609.4(PYGM):c.687G>C (p.Thr229=) rs764624576
NM_005609.4(PYGM):c.687G>T (p.Thr229=) rs764624576
NM_005609.4(PYGM):c.690C>T (p.Pro230=) rs946190237
NM_005609.4(PYGM):c.690dup (p.Val231fs)
NM_005609.4(PYGM):c.691G>A (p.Val231Met) rs763524554
NM_005609.4(PYGM):c.693G>A (p.Val231=) rs1327930001
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala) rs2496664048
NM_005609.4(PYGM):c.699C>T (p.Gly233=) rs2135836588
NM_005609.4(PYGM):c.699del (p.Tyr234fs) rs2496664032
NM_005609.4(PYGM):c.708C>T (p.Asn236=) rs2135836560
NM_005609.4(PYGM):c.728G>A (p.Arg243His) rs1312195500
NM_005609.4(PYGM):c.729C>A (p.Arg243=) rs151160016
NM_005609.4(PYGM):c.730del (p.Leu244fs) rs2135836491
NM_005609.4(PYGM):c.734G>A (p.Trp245Ter) rs2135836483
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter) rs779706675
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.741C>T (p.Ala247=) rs1259011777
NM_005609.4(PYGM):c.744G>A (p.Lys248=) rs1325452379
NM_005609.4(PYGM):c.750C>G (p.Pro250=) rs2058388076
NM_005609.4(PYGM):c.75G>A (p.Val25=) rs2496675741
NM_005609.4(PYGM):c.772+10T>C rs2496663728
NM_005609.4(PYGM):c.772+14C>T rs2496663703
NM_005609.4(PYGM):c.772+16G>A rs2496663695
NM_005609.4(PYGM):c.772+18T>G rs2135836360
NM_005609.4(PYGM):c.772+1G>T rs2496663759
NM_005609.4(PYGM):c.772+2T>A rs2496663754
NM_005609.4(PYGM):c.772+2_772+3del rs2496663744
NM_005609.4(PYGM):c.772+8C>G rs2496663737
NM_005609.4(PYGM):c.773-14C>T
NM_005609.4(PYGM):c.773-18C>T rs758771932
NM_005609.4(PYGM):c.773-1G>C rs2135836264
NM_005609.4(PYGM):c.773-2A>T
NM_005609.4(PYGM):c.773-5C>G rs748541324
NM_005609.4(PYGM):c.773-5C>T rs748541324
NM_005609.4(PYGM):c.773-6C>G rs1367711630
NM_005609.4(PYGM):c.776dup (p.Asn259fs) rs2058387066
NM_005609.4(PYGM):c.777T>C (p.Asn259=) rs1357492907
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser) rs2058386942
NM_005609.4(PYGM):c.783T>G (p.Gly261=) rs2496663312
NM_005609.4(PYGM):c.7C>G (p.Arg3Gly)
NM_005609.4(PYGM):c.801G>A (p.Val267=) rs2496663261
NM_005609.4(PYGM):c.803del (p.Leu268fs) rs2496663250
NM_005609.4(PYGM):c.814C>T (p.Leu272=) rs1200590873
NM_005609.4(PYGM):c.816G>A (p.Leu272=) rs2135836180
NM_005609.4(PYGM):c.819G>A (p.Ala273=) rs763918119
NM_005609.4(PYGM):c.828C>T (p.Ile276=) rs1198004865
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro) rs775556109
NM_005609.4(PYGM):c.839_843del (p.Leu280fs) rs2496663079
NM_005609.4(PYGM):c.840G>C (p.Leu280=) rs2135836148
NM_005609.4(PYGM):c.849T>C (p.Asn283=) rs1592413061
NM_005609.4(PYGM):c.852T>C (p.Asp284=) rs2496663038
NM_005609.4(PYGM):c.855+10C>A rs780270624
NM_005609.4(PYGM):c.855+13del rs1470706658
NM_005609.4(PYGM):c.855+14T>G rs1565536525
NM_005609.4(PYGM):c.855+19T>G rs2496662951
NM_005609.4(PYGM):c.855+1G>A rs2135836123
NM_005609.4(PYGM):c.855+3G>A
NM_005609.4(PYGM):c.855+3G>T rs1460614971
NM_005609.4(PYGM):c.855+7C>A rs2135836112
NM_005609.4(PYGM):c.855+7C>T rs2135836112
NM_005609.4(PYGM):c.855+8A>G rs2135836107
NM_005609.4(PYGM):c.855+9C>A rs779395958
NM_005609.4(PYGM):c.855+9C>T rs779395958
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys) rs776369912
NM_005609.4(PYGM):c.856-12T>C rs2135835596
NM_005609.4(PYGM):c.856-17C>A rs1319339510
NM_005609.4(PYGM):c.856-2A>C rs1565536363
NM_005609.4(PYGM):c.856-8G>C rs759072956
NM_005609.4(PYGM):c.856-9T>C rs2496661998
NM_005609.4(PYGM):c.858C>A (p.Phe286Leu)
NM_005609.4(PYGM):c.864A>G (p.Glu288=) rs2135835559
NM_005609.4(PYGM):c.873G>A (p.Glu291=) rs944552679
NM_005609.4(PYGM):c.878G>A (p.Arg293Gln)
NM_005609.4(PYGM):c.880C>T (p.Leu294=) rs1224113608
NM_005609.4(PYGM):c.882G>A (p.Leu294=) rs2496661887
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln) rs1358384674
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter) 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.917dup (p.Asp307fs)
NM_005609.4(PYGM):c.922del (p.Ile308fs) rs1406496254
NM_005609.4(PYGM):c.936C>T (p.Phe312=) rs2496661705
NM_005609.4(PYGM):c.945C>G (p.Ser315=) rs2135835417
NM_005609.4(PYGM):c.945C>T (p.Ser315=) rs2135835417
NM_005609.4(PYGM):c.966C>T (p.Pro322=) rs377041639
NM_005609.4(PYGM):c.968T>C (p.Val323Ala)
NM_005609.4(PYGM):c.96C>T (p.Phe32=) rs2496675650
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.978C>T (p.Asn326=) rs2496661399
NM_005609.4(PYGM):c.982G>C (p.Asp328His) rs758682386
NM_005609.4(PYGM):c.987C>G (p.Ala329=) rs1565536189
NM_005609.4(PYGM):c.988T>C (p.Phe330Leu) rs2135835281
NM_005609.4(PYGM):c.990C>T (p.Phe330=) rs2135835271
NM_005609.4(PYGM):c.992C>A (p.Pro331Gln) rs2496661348
NM_005609.4(PYGM):c.993A>C (p.Pro331=) rs748361251
NM_005609.4(PYGM):c.993A>G (p.Pro331=) rs748361251
NM_005609.4(PYGM):c.999+10G>T rs199638571
NM_005609.4(PYGM):c.999+16A>T rs2496661261
NM_005609.4(PYGM):c.999+18G>T rs1267085500
NM_005609.4(PYGM):c.999+1G>A rs778749893
NM_005609.4(PYGM):c.999+6A>G
NM_005609.4(PYGM):c.999+7T>C rs1565536175
NM_005609.4(PYGM):c.999+8G>A rs2496661310
NM_005609.4(PYGM):c.999+9C>A rs183026465
NM_005609.4(PYGM):c.999+9C>G rs183026465
NM_005609.4(PYGM):c.999+9C>T rs183026465

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.