ClinVar Miner

List of variants in gene PYGM studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1239
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HGVS dbSNP gnomAD frequency
NM_005609.4(PYGM):c.528+74C>A rs489192 0.81198
NM_005609.4(PYGM):c.999+99T>C rs625172 0.76284
NM_005609.4(PYGM):c.1403+49C>A rs2959652 0.73109
NM_005609.4(PYGM):c.660+35G>A rs589691 0.68983
NM_005609.4(PYGM):c.529-82G>A rs490980 0.67990
NM_005609.4(PYGM):c.243+48A>G rs477549 0.20413
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 0.03592
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met) rs71581787 0.01778
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_005609.4(PYGM):c.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.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_005609.4(PYGM):c.1888G>A (p.Val630Met) rs115347245 0.00160
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys) rs116180923 0.00160
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_005609.4(PYGM):c.424+17G>A rs202244109 0.00145
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met) rs75685607 0.00126
NM_005609.4(PYGM):c.2109G>A (p.Glu703=) rs200537357 0.00120
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00106
NM_005609.4(PYGM):c.516C>T (p.Ser172=) rs147402432 0.00087
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626 0.00077
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_005609.4(PYGM):c.2112G>A (p.Ala704=) rs61737361 0.00068
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 0.00042
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser) rs145881639 0.00039
NM_005609.2(PYGM):c.-789T>C rs143460923 0.00038
NM_005609.4(PYGM):c.1925G>A (p.Arg642His) rs150098198 0.00035
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590 0.00034
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr) rs142008108 0.00034
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile) rs149067043 0.00034
NM_005609.4(PYGM):c.1885G>T (p.Asp629Tyr) rs137986928 0.00032
NM_005609.4(PYGM):c.1519-12G>A rs373078258 0.00031
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser) rs119103251 0.00027
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867 0.00026
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_005609.4(PYGM):c.729C>T (p.Arg243=) rs151160016 0.00024
NM_005609.4(PYGM):c.1527G>T (p.Gly509=) rs114730784 0.00023
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.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_005609.3(PYGM):c.-146C>A rs764403406 0.00016
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234 0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_005609.4(PYGM):c.951C>T (p.Phe317=) rs71581789 0.00016
NM_005609.4(PYGM):c.981C>T (p.Phe327=) rs146289842 0.00016
NM_005609.4(PYGM):c.-76A>G rs139467558 0.00015
NM_005609.4(PYGM):c.1769-12G>A rs377117150 0.00015
NM_005609.4(PYGM):c.558C>T (p.Tyr186=) rs144298015 0.00015
NM_005609.2(PYGM):c.-724C>G rs754685048 0.00013
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys) rs559363120 0.00013
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu) rs372851103 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 0.00010
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys) rs200481790 0.00010
NM_005609.4(PYGM):c.2447G>A (p.Arg816His) rs139230055 0.00010
NM_005609.4(PYGM):c.284C>T (p.Thr95Met) rs375233791 0.00010
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00010
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp) rs199565370 0.00010
NM_005609.4(PYGM):c.-20C>T rs71581796 0.00009
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp) rs531748591 0.00009
NM_005609.4(PYGM):c.1403+5G>A rs373040789 0.00009
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser) rs140016055 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983 0.00009
NM_005609.4(PYGM):c.63C>T (p.Gly21=) rs368124628 0.00009
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser) rs115690781 0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 0.00009
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040 0.00008
NM_005609.4(PYGM):c.120C>T (p.Leu40=) rs370819554 0.00008
NM_005609.4(PYGM):c.1347G>T (p.Gly449=) rs141152121 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr) rs749358752 0.00007
NM_005609.4(PYGM):c.1768+1G>A rs771427957 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.2379+8G>A rs536129249 0.00007
NM_005609.4(PYGM):c.1239+12G>A rs760471706 0.00006
NM_005609.4(PYGM):c.1239+18G>C rs533410561 0.00006
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile) rs151213354 0.00006
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.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.661-599G>T rs963364351 0.00006
NM_005609.4(PYGM):c.832C>T (p.Arg278Cys) rs762779955 0.00006
NM_005609.4(PYGM):c.1239+9G>A rs374937711 0.00005
NM_005609.4(PYGM):c.1409A>G (p.Lys470Arg) rs754940511 0.00005
NM_005609.4(PYGM):c.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.855+4C>T rs199834605 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.1353C>T (p.His451=) rs377599118 0.00004
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val) rs377371768 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.1716C>T (p.His572=) rs754944948 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.2312G>A (p.Arg771Gln) rs150911354 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.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.897C>T (p.Phe299=) rs114363966 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.1343C>T (p.Ala448Val) rs370291854 0.00003
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg) rs769172044 0.00003
NM_005609.4(PYGM):c.1362C>T (p.Asn454=) rs375294505 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.1668C>G (p.Val556=) rs771619843 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.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter) rs1057517001 0.00003
NM_005609.4(PYGM):c.2367C>T (p.Ser789=) rs750356895 0.00003
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544 0.00003
NM_005609.4(PYGM):c.411G>A (p.Leu137=) rs746345515 0.00003
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro) rs747495987 0.00003
NM_005609.4(PYGM):c.60C>T (p.Ala20=) rs770037071 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.780C>T (p.Val260=) rs754415422 0.00003
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter) rs767739769 0.00003
NM_005609.4(PYGM):c.1093-5G>A rs745663647 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.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.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.1760T>C (p.Leu587Pro) rs761438921 0.00002
NM_005609.4(PYGM):c.1768+2T>G rs747513238 0.00002
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705 0.00002
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) rs750195683 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.1941G>A (p.Glu647=) rs754483073 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.2054A>G (p.Asn685Ser) rs765656412 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.2083G>A (p.Gly695Arg) rs768604948 0.00002
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys) rs984250045 0.00002
NM_005609.4(PYGM):c.2312+16C>T rs184694130 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.2463T>C (p.Tyr821=) rs1236553650 0.00002
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter) rs1057517145 0.00002
NM_005609.4(PYGM):c.31A>C (p.Arg11=) rs776312721 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.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005609.4(PYGM):c.402C>T (p.Asn134=) rs372262267 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.481C>T (p.Arg161Cys) rs200038732 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.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.818C>T (p.Ala273Val) rs768576604 0.00002
NM_005609.4(PYGM):c.81G>A (p.Glu27=) rs758383567 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.1005C>T (p.Ala335=) rs773605626 0.00001
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732 0.00001
NM_005609.4(PYGM):c.1044C>T (p.Pro348=) rs763750599 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.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.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln) rs548646628 0.00001
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=) rs371264447 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.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.1276C>T (p.Leu426=) rs1222482593 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.1289C>T (p.Ser430Leu) rs1212604 0.00001
NM_005609.4(PYGM):c.1290G>A (p.Ser430=) rs1039138727 0.00001
NM_005609.4(PYGM):c.1305C>T (p.Gly435=) rs1433618435 0.00001
NM_005609.4(PYGM):c.1308A>G (p.Ala436=) rs912122302 0.00001
NM_005609.4(PYGM):c.1317C>T (p.Arg439=) rs2058372225 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 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.1383C>T (p.Ser461=) rs775978754 0.00001
NM_005609.4(PYGM):c.1395G>A (p.Lys465=) rs555057489 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.1519-4A>G rs1359033480 0.00001
NM_005609.4(PYGM):c.1520G>A (p.Arg507His) rs575153481 0.00001
NM_005609.4(PYGM):c.1540T>G (p.Ser514Ala) rs1287109702 0.00001
NM_005609.4(PYGM):c.1575T>C (p.Phe525=) rs371787613 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.1702G>A (p.Val568Met) rs757791045 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.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 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+9C>T rs1415602372 0.00001
NM_005609.4(PYGM):c.1769-10T>G rs1565534037 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.1828-5C>T rs775492066 0.00001
NM_005609.4(PYGM):c.183C>T (p.Arg61=) rs1182278359 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.1970-5C>T rs1414755282 0.00001
NM_005609.4(PYGM):c.198G>C (p.Gly66=) rs776064700 0.00001
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu) rs794727189 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.2111C>T (p.Ala704Val) rs1483102315 0.00001
NM_005609.4(PYGM):c.2121A>G (p.Glu707=) rs746678142 0.00001
NM_005609.4(PYGM):c.2136T>C (p.Phe712=) rs2058346910 0.00001
NM_005609.4(PYGM):c.2177+8G>A rs775261125 0.00001
NM_005609.4(PYGM):c.2204G>A (p.Arg735His) rs760277933 0.00001
NM_005609.4(PYGM):c.224A>G (p.Tyr75Cys) rs1449944847 0.00001
NM_005609.4(PYGM):c.2271C>T (p.Asp757=) rs1312751218 0.00001
NM_005609.4(PYGM):c.2274G>A (p.Leu758=) rs765011069 0.00001
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln) rs754822104 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.2364C>T (p.Val788=) rs1162487973 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.244-7T>C rs773415576 0.00001
NM_005609.4(PYGM):c.2451C>T (p.Thr817=) rs2058311690 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.2494C>T (p.Arg832Cys) rs757670205 0.00001
NM_005609.4(PYGM):c.2514G>A (p.Pro838=) rs759671853 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.327T>C (p.Cys109=) rs1488873157 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.346C>G (p.Leu116Val) rs759361512 0.00001
NM_005609.4(PYGM):c.352C>T (p.Leu118=) rs770341565 0.00001
NM_005609.4(PYGM):c.389C>T (p.Ala130Val) rs200430286 0.00001
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr) rs753687960 0.00001
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg) rs760654579 0.00001
NM_005609.4(PYGM):c.489G>A (p.Glu163=) rs767119000 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.589T>C (p.Phe197Leu) rs773595572 0.00001
NM_005609.4(PYGM):c.618T>A (p.His206Gln) rs371343340 0.00001
NM_005609.4(PYGM):c.657A>G (p.Thr219=) rs754590975 0.00001
NM_005609.4(PYGM):c.661-601G>A rs1474863903 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.723C>T (p.Thr241=) rs772848708 0.00001
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675 0.00001
NM_005609.4(PYGM):c.773-18C>T rs758771932 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.84G>A (p.Leu28=) rs752615989 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.963T>C (p.Asp321=) rs772678994 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.(?_64517838)_(64522318_?)del
NC_000011.9:g.(?_64520525)_(64523631_?)dup
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
NM_005609.4(PYGM):c.1000-13C>A
NM_005609.4(PYGM):c.1000-15C>T
NM_005609.4(PYGM):c.1000-15del
NM_005609.4(PYGM):c.1000-17C>T
NM_005609.4(PYGM):c.1000-18C>T
NM_005609.4(PYGM):c.1000-20G>T
NM_005609.4(PYGM):c.1000-24_1000-14dup
NM_005609.4(PYGM):c.1000-6C>T rs2135834766
NM_005609.4(PYGM):c.1000-9C>G rs2135834771
NM_005609.4(PYGM):c.1000G>A (p.Val334Met)
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala)
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)
NM_005609.4(PYGM):c.101G>A (p.Arg34Gln)
NM_005609.4(PYGM):c.1020C>T (p.Asp340=) rs1376160425
NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser)
NM_005609.4(PYGM):c.1029C>T (p.Pro343=)
NM_005609.4(PYGM):c.1032C>T (p.Ser344=)
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
NM_005609.4(PYGM):c.1048C>T (p.Leu350=)
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys)
NM_005609.4(PYGM):c.1059C>A (p.Ile353=) rs766772774
NM_005609.4(PYGM):c.105C>T (p.His35=)
NM_005609.4(PYGM):c.1060C>T (p.Leu354=) rs560441482
NM_005609.4(PYGM):c.1068C>T (p.Asp356=)
NM_005609.4(PYGM):c.106C>T (p.Leu36=)
NM_005609.4(PYGM):c.1071G>C (p.Leu357=)
NM_005609.4(PYGM):c.1072del (p.Glu358fs)
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln)
NM_005609.4(PYGM):c.108del (p.His37fs)
NM_005609.4(PYGM):c.1092+1G>C rs749560316
NM_005609.4(PYGM):c.1093-10del
NM_005609.4(PYGM):c.1093-13C>A
NM_005609.4(PYGM):c.1093-13dup rs1304298343
NM_005609.4(PYGM):c.1093-16C>G
NM_005609.4(PYGM):c.1093-18G>T
NM_005609.4(PYGM):c.1093-1G>T rs1163710370
NM_005609.4(PYGM):c.1093-20C>T
NM_005609.4(PYGM):c.1093-2A>T
NM_005609.4(PYGM):c.1093-3C>T
NM_005609.4(PYGM):c.1093-6T>C
NM_005609.4(PYGM):c.1093-9G>A rs571244371
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)
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)
NM_005609.4(PYGM):c.1128C>T (p.Thr376=)
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
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=)
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)
NM_005609.4(PYGM):c.1149G>A (p.Glu383=)
NM_005609.4(PYGM):c.114C>T (p.Phe38=)
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)
NM_005609.4(PYGM):c.1176C>G (p.Leu392=)
NM_005609.4(PYGM):c.1179G>A (p.Leu393=)
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.1191G>A (p.Leu397=)
NM_005609.4(PYGM):c.1195C>A (p.Arg399=) rs747675778
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr) rs2058375583
NM_005609.4(PYGM):c.1205A>C (p.Gln402Pro) rs2135833836
NM_005609.4(PYGM):c.1206G>A (p.Gln402=)
NM_005609.4(PYGM):c.120C>A (p.Leu40=)
NM_005609.4(PYGM):c.120C>G (p.Leu40=) rs370819554
NM_005609.4(PYGM):c.120_121insA (p.Val41fs)
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)
NM_005609.4(PYGM):c.121G>A (p.Val41Ile)
NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr)
NM_005609.4(PYGM):c.1224C>T (p.Asn408=) rs1440882452
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys)
NM_005609.4(PYGM):c.122_126del (p.Val41fs)
NM_005609.4(PYGM):c.1238A>G (p.Asn413Ser)
NM_005609.4(PYGM):c.1239+13G>C
NM_005609.4(PYGM):c.1239+17G>T
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)
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
NM_005609.4(PYGM):c.1240-22_1240-20del
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)
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln)
NM_005609.4(PYGM):c.1242G>A (p.Arg414=)
NM_005609.4(PYGM):c.1245G>A (p.Val415=) rs2135833386
NM_005609.4(PYGM):c.1248G>C (p.Ala416=)
NM_005609.4(PYGM):c.1251C>G (p.Ala417=) rs1328262607
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr)
NM_005609.4(PYGM):c.1254A>G (p.Ala418=)
NM_005609.4(PYGM):c.125del (p.Lys42fs)
NM_005609.4(PYGM):c.1260A>C (p.Pro420=)
NM_005609.4(PYGM):c.1260A>T (p.Pro420=) rs2135833329
NM_005609.4(PYGM):c.1262G>A (p.Gly421Glu)
NM_005609.4(PYGM):c.1263G>A (p.Gly421=) rs2135833320
NM_005609.4(PYGM):c.1263G>C (p.Gly421=)
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
NM_005609.4(PYGM):c.126G>A (p.Lys42=)
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.1274G>A (p.Arg425Gln) rs368608057
NM_005609.4(PYGM):c.1275G>C (p.Arg425=)
NM_005609.4(PYGM):c.1275G>T (p.Arg425=)
NM_005609.4(PYGM):c.1275dup (p.Leu426fs)
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.1283G>A (p.Arg428His)
NM_005609.4(PYGM):c.1284C>T (p.Arg428=)
NM_005609.4(PYGM):c.1298AGG[1] (p.Glu434del)
NM_005609.4(PYGM):c.129_150del (p.Asp43fs) rs2058421657
NM_005609.4(PYGM):c.1302G>A (p.Glu434=)
NM_005609.4(PYGM):c.1305C>A (p.Gly435=)
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys)
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup) rs1555135069
NM_005609.4(PYGM):c.1320C>A (p.Ile440=)
NM_005609.4(PYGM):c.1323C>T (p.Asn441=) rs1202544673
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val)
NM_005609.4(PYGM):c.1333C>T (p.Leu445=) rs2135833136
NM_005609.4(PYGM):c.1338C>T (p.Cys446=)
NM_005609.4(PYGM):c.1338_1341dup (p.Ala448fs)
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.1344G>A (p.Ala448=) rs1466751658
NM_005609.4(PYGM):c.134A>G (p.Asn45Ser)
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)
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile)
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)
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)
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
NM_005609.4(PYGM):c.1365C>G (p.Gly455=)
NM_005609.4(PYGM):c.1368G>A (p.Val456=)
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr)
NM_005609.4(PYGM):c.1371G>T (p.Ala457=)
NM_005609.4(PYGM):c.1374C>T (p.Arg458=)
NM_005609.4(PYGM):c.1379A>G (p.His460Arg) rs2135832903
NM_005609.4(PYGM):c.1383C>G (p.Ser461=) rs775978754
NM_005609.4(PYGM):c.1389C>T (p.Ile463=)
NM_005609.4(PYGM):c.138G>A (p.Val46=) rs776928047
NM_005609.4(PYGM):c.1398G>A (p.Lys466=)
NM_005609.4(PYGM):c.13_14del (p.Leu5fs) rs772194378
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val)
NM_005609.4(PYGM):c.1403+12T>C
NM_005609.4(PYGM):c.1403+15C>G
NM_005609.4(PYGM):c.1403+1G>A rs1191939323
NM_005609.4(PYGM):c.1403+1dup
NM_005609.4(PYGM):c.1403+7C>A
NM_005609.4(PYGM):c.1403+7C>T rs2135832833
NM_005609.4(PYGM):c.1403+8C>A
NM_005609.4(PYGM):c.1403+9C>T
NM_005609.4(PYGM):c.1404-16C>T
NM_005609.4(PYGM):c.1404-19G>A
NM_005609.4(PYGM):c.1404-20C>T
NM_005609.4(PYGM):c.1404-4G>T rs1397436069
NM_005609.4(PYGM):c.1404-9A>C rs2135832402
NM_005609.4(PYGM):c.1419T>C (p.Tyr473=)
NM_005609.4(PYGM):c.141C>T (p.Ala47=)
NM_005609.4(PYGM):c.141del (p.Thr48fs)
NM_005609.4(PYGM):c.1431T>A (p.Pro477=) rs2135832336
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1437G>A (p.Lys479=) rs2058368149
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)
NM_005609.4(PYGM):c.1448A>C (p.Lys483Thr) rs2135832293
NM_005609.4(PYGM):c.1458C>G (p.Gly486=)
NM_005609.4(PYGM):c.1461C>A (p.Ile487=)
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>T (p.Arg490Trp)
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)
NM_005609.4(PYGM):c.1469G>C (p.Arg490Pro)
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln)
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)
NM_005609.4(PYGM):c.1477del (p.Leu493fs) rs2058367842
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.150A>G (p.Arg50=)
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser)
NM_005609.4(PYGM):c.1515T>C (p.Ala505=)
NM_005609.4(PYGM):c.1518+10C>T
NM_005609.4(PYGM):c.1518+12C>T
NM_005609.4(PYGM):c.1518+13C>T
NM_005609.4(PYGM):c.1518+15T>C
NM_005609.4(PYGM):c.1518+18G>A
NM_005609.4(PYGM):c.1518+7G>C rs749236693
NM_005609.4(PYGM):c.1519-11T>C
NM_005609.4(PYGM):c.1519-13C>G
NM_005609.4(PYGM):c.1519-13C>T
NM_005609.4(PYGM):c.1519-14C>A
NM_005609.4(PYGM):c.1519-1G>A rs2135831491
NM_005609.4(PYGM):c.1519-5C>T rs1006803617
NM_005609.4(PYGM):c.1519-5del
NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys)
NM_005609.4(PYGM):c.1523del (p.Ile508fs) rs2135831473
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met)
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.152A>G (p.Asp51Gly) rs397514631
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del) rs1325298827
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup) rs1325298827
NM_005609.4(PYGM):c.1531del (p.Asp511fs) rs2058363821
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu)
NM_005609.4(PYGM):c.1533C>G (p.Asp511Glu)
NM_005609.4(PYGM):c.1536C>T (p.Phe512=)
NM_005609.4(PYGM):c.1542T>C (p.Ser514=) rs2135831386
NM_005609.4(PYGM):c.1545C>T (p.Asp515=)
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs) rs2058363627
NM_005609.4(PYGM):c.1551C>T (p.Asp517=)
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)
NM_005609.4(PYGM):c.1569C>T (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.156C>T (p.Tyr52=)
NM_005609.4(PYGM):c.157del (p.Tyr53fs) rs2135842587
NM_005609.4(PYGM):c.15G>C (p.Leu5=) rs886038565
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr)
NM_005609.4(PYGM):c.1602T>C (p.Asp534=) rs2135831234
NM_005609.4(PYGM):c.1608C>G (p.Ala536=)
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.161T>A (p.Phe54Tyr)
NM_005609.4(PYGM):c.1620+13G>A
NM_005609.4(PYGM):c.1620+16A>G
NM_005609.4(PYGM):c.1620+17T>C
NM_005609.4(PYGM):c.1620+1G>A rs1256894448
NM_005609.4(PYGM):c.1620+1G>T
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
NM_005609.4(PYGM):c.1621-15C>T
NM_005609.4(PYGM):c.1621-16C>G
NM_005609.4(PYGM):c.1621-17C>T
NM_005609.4(PYGM):c.1621-18C>G
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005609.4(PYGM):c.1621-20T>C
NM_005609.4(PYGM):c.1621-8G>A
NM_005609.4(PYGM):c.1621G>T (p.Glu541Ter) rs119103257
NM_005609.4(PYGM):c.1623A>G (p.Glu541=) rs1592409772
NM_005609.4(PYGM):c.1626C>T (p.Asn542=)
NM_005609.4(PYGM):c.1629G>A (p.Lys543=) rs2058360665
NM_005609.4(PYGM):c.1630T>C (p.Leu544=) rs973893149
NM_005609.4(PYGM):c.1636_1639del (p.Phe546fs)
NM_005609.4(PYGM):c.164_168del (p.Ala55fs) rs780193588
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys)
NM_005609.4(PYGM):c.1657G>T (p.Glu553Ter) rs1311913891
NM_005609.4(PYGM):c.166C>T (p.Leu56=) rs2135842567
NM_005609.4(PYGM):c.1672A>G (p.Ile558Val)
NM_005609.4(PYGM):c.1673dup (p.Asn559fs)
NM_005609.4(PYGM):c.1680del (p.Asn561fs) rs1057516259
NM_005609.4(PYGM):c.1685C>T (p.Ser562Leu)
NM_005609.4(PYGM):c.1686A>C (p.Ser562=)
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe)
NM_005609.4(PYGM):c.1695C>T (p.Asp565=) rs2058360148
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.1722T>C (p.Tyr574=)
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=)
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln) rs759218298
NM_005609.4(PYGM):c.1731G>A (p.Gln577=)
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del) rs1592409633
NM_005609.4(PYGM):c.1734C>T (p.Leu578=)
NM_005609.4(PYGM):c.1737C>T (p.Leu579=)
NM_005609.4(PYGM):c.1742del (p.Cys581fs) rs1592409631
NM_005609.4(PYGM):c.1752C>T (p.Val584=)
NM_005609.4(PYGM):c.1758C>T (p.Thr586=) rs2135830553
NM_005609.4(PYGM):c.1761_1765del (p.Tyr588fs)
NM_005609.4(PYGM):c.1764C>T (p.Tyr588=)
NM_005609.4(PYGM):c.1768+13C>G
NM_005609.4(PYGM):c.1768+17C>G
NM_005609.4(PYGM):c.1768+19A>G
NM_005609.4(PYGM):c.1768+8_1768+11dup
NM_005609.4(PYGM):c.1769-12G>C
NM_005609.4(PYGM):c.1769-13C>T
NM_005609.4(PYGM):c.1769-16T>C
NM_005609.4(PYGM):c.1769-19C>A
NM_005609.4(PYGM):c.1769-1G>A rs2058357329
NM_005609.4(PYGM):c.1769-4A>C rs1592409359
NM_005609.4(PYGM):c.1769-7T>C rs2058357396
NM_005609.4(PYGM):c.1769-8C>T rs2135830209
NM_005609.4(PYGM):c.1769-9T>A rs1022322449
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
NM_005609.4(PYGM):c.1774A>T (p.Lys592Ter) rs2135830163
NM_005609.4(PYGM):c.1776G>A (p.Lys592=)
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=)
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.1817T>C (p.Ile606Thr)
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
NM_005609.4(PYGM):c.1827+17C>T
NM_005609.4(PYGM):c.1827+18A>C
NM_005609.4(PYGM):c.1827+1G>C rs1057517442
NM_005609.4(PYGM):c.1827+20C>T
NM_005609.4(PYGM):c.1827+9C>A
NM_005609.4(PYGM):c.1828-11T>C
NM_005609.4(PYGM):c.1828-11_1828-9del
NM_005609.4(PYGM):c.1828-16G>C
NM_005609.4(PYGM):c.1828-19C>T
NM_005609.4(PYGM):c.1828-1G>A
NM_005609.4(PYGM):c.1828-1G>T
NM_005609.4(PYGM):c.1828-2A>G rs2135829883
NM_005609.4(PYGM):c.1828-5C>A
NM_005609.4(PYGM):c.1828-7C>A
NM_005609.4(PYGM):c.1828-8C>T
NM_005609.4(PYGM):c.1832C>T (p.Ala611Val)
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala) rs1419658107
NM_005609.4(PYGM):c.1842C>T (p.Tyr614=)
NM_005609.4(PYGM):c.1845C>T (p.His615=) rs552502008
NM_005609.4(PYGM):c.1853dup (p.Met619fs) rs2135829844
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)
NM_005609.4(PYGM):c.1902C>T (p.Asp634=) rs776043985
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu)
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.1919G>A (p.Arg640His)
NM_005609.4(PYGM):c.1923C>G (p.Leu641=)
NM_005609.4(PYGM):c.192C>T (p.Leu64=) rs912904130
NM_005609.4(PYGM):c.193G>C (p.Val65Leu)
NM_005609.4(PYGM):c.1947C>T (p.Tyr649=)
NM_005609.4(PYGM):c.1948del (p.Arg650fs) rs2058354383
NM_005609.4(PYGM):c.194dup (p.Arg67fs)
NM_005609.4(PYGM):c.1953C>A (p.Val651=) rs2058354200
NM_005609.4(PYGM):c.1956_1962del (p.Leu653fs)
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
NM_005609.4(PYGM):c.1969+1G>A
NM_005609.4(PYGM):c.1969+1G>C
NM_005609.4(PYGM):c.1969+1G>T rs753181427
NM_005609.4(PYGM):c.1969+20A>G
NM_005609.4(PYGM):c.1969+7G>T
NM_005609.4(PYGM):c.1969+9T>C
NM_005609.4(PYGM):c.1970-17dup
NM_005609.4(PYGM):c.1970-19C>T
NM_005609.4(PYGM):c.1970-1G>A rs1057516598
NM_005609.4(PYGM):c.1970-20C>T
NM_005609.4(PYGM):c.1970-20_1970-5dup rs747398326
NM_005609.4(PYGM):c.1970-2A>C
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
NM_005609.4(PYGM):c.1970-6C>T
NM_005609.4(PYGM):c.1974C>T (p.Ile658=)
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr)
NM_005609.4(PYGM):c.1979C>A (p.Ala660Asp)
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=)
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.1996C>T (p.Gln666Ter)
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.2001C>T (p.Ile667=) rs2058349107
NM_005609.4(PYGM):c.2007T>C (p.Thr669=) rs1330878809
NM_005609.4(PYGM):c.2007T>G (p.Thr669=) rs1330878809
NM_005609.4(PYGM):c.2011G>T (p.Gly671Cys)
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr) rs2058348746
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val)
NM_005609.4(PYGM):c.2028C>A (p.Gly676=)
NM_005609.4(PYGM):c.2031C>A (p.Thr677=)
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg) rs755716626
NM_005609.4(PYGM):c.2043G>A (p.Lys681=) rs2058348408
NM_005609.4(PYGM):c.2047A>G (p.Met683Val) rs1309230359
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)
NM_005609.4(PYGM):c.2064G>A (p.Leu688=)
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs) rs1592408302
NM_005609.4(PYGM):c.2076C>A (p.Thr692=) rs1186035337
NM_005609.4(PYGM):c.207C>T (p.Ile69=)
NM_005609.4(PYGM):c.2082C>A (p.Asp694Glu) rs773543072
NM_005609.4(PYGM):c.2083G>T (p.Gly695Trp)
NM_005609.4(PYGM):c.2085G>A (p.Gly695=) rs147725917
NM_005609.4(PYGM):c.2085G>T (p.Gly695=)
NM_005609.4(PYGM):c.2086dup (p.Ala696fs)
NM_005609.4(PYGM):c.2088C>T (p.Ala696=) rs2058347562
NM_005609.4(PYGM):c.208_210del (p.Arg70del)
NM_005609.4(PYGM):c.2091T>C (p.Asn697=) rs2135828504
NM_005609.4(PYGM):c.2094G>A (p.Val698=)
NM_005609.4(PYGM):c.2097G>A (p.Glu699=) rs2058347485
NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys)
NM_005609.4(PYGM):c.2113_2114del (p.Gly705fs) rs2058347214
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys)
NM_005609.4(PYGM):c.2118G>A (p.Glu706=) rs2135828438
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile)
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del) rs527236147
NM_005609.4(PYGM):c.2127C>A (p.Phe709Leu)
NM_005609.4(PYGM):c.2127C>T (p.Phe709=)
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg)
NM_005609.4(PYGM):c.2133C>T (p.Ile711=)
NM_005609.4(PYGM):c.2136dup (p.Gly713fs) rs1057517067
NM_005609.4(PYGM):c.213G>T (p.Thr71=)
NM_005609.4(PYGM):c.2143C>A (p.Arg715=) rs780656375
NM_005609.4(PYGM):c.2146dup (p.Val716fs)
NM_005609.4(PYGM):c.2151G>A (p.Glu717=)
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=)
NM_005609.4(PYGM):c.2177+11C>G
NM_005609.4(PYGM):c.2177+15G>A
NM_005609.4(PYGM):c.2177+1G>A rs751875471
NM_005609.4(PYGM):c.2177+1G>T
NM_005609.4(PYGM):c.2177+20C>T
NM_005609.4(PYGM):c.2177+9G>A rs1592408105
NM_005609.4(PYGM):c.2178-12dup
NM_005609.4(PYGM):c.2178-16A>T
NM_005609.4(PYGM):c.2178-4del
NM_005609.4(PYGM):c.2178-8C>T
NM_005609.4(PYGM):c.217C>T (p.Gln73Ter) rs1057517361
NM_005609.4(PYGM):c.2181dup (p.Asn728fs) rs2058321851
NM_005609.4(PYGM):c.2184T>C (p.Asn728=) rs1009359544
NM_005609.4(PYGM):c.2187C>T (p.Ala729=)
NM_005609.4(PYGM):c.2188_2189del (p.Gln730fs)
NM_005609.4(PYGM):c.2190G>A (p.Gln730=)
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.2216T>C (p.Leu739Pro) rs370144967
NM_005609.4(PYGM):c.2220G>A (p.Arg740=)
NM_005609.4(PYGM):c.2229T>C (p.Ile743=) rs1592405688
NM_005609.4(PYGM):c.222C>G (p.His74Gln)
NM_005609.4(PYGM):c.2231_2244del (p.Glu744fs) rs1057517058
NM_005609.4(PYGM):c.2238G>A (p.Leu746=)
NM_005609.4(PYGM):c.2244T>C (p.Ser748=)
NM_005609.4(PYGM):c.2249T>G (p.Phe750Cys)
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del) rs758842259
NM_005609.4(PYGM):c.224A>T (p.Tyr75Phe)
NM_005609.4(PYGM):c.2253C>T (p.Phe751=) rs1565531467
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=)
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.2267C>T (p.Pro756Leu)
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)
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs)
NM_005609.4(PYGM):c.2280G>A (p.Lys760=)
NM_005609.4(PYGM):c.2289C>T (p.Val763=)
NM_005609.4(PYGM):c.228T>A (p.Tyr76Ter)
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.2301G>C (p.Met767Ile)
NM_005609.4(PYGM):c.2306A>C (p.His769Pro)
NM_005609.4(PYGM):c.2307T>C (p.His769=)
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+15C>T
NM_005609.4(PYGM):c.2312+16del
NM_005609.4(PYGM):c.2312+17G>A
NM_005609.4(PYGM):c.2312+19G>A
NM_005609.4(PYGM):c.2312+19del
NM_005609.4(PYGM):c.2312+3G>C rs1555133430
NM_005609.4(PYGM):c.2312+8G>C
NM_005609.4(PYGM):c.2312+9G>C
NM_005609.4(PYGM):c.2313-13C>T
NM_005609.4(PYGM):c.2313-16A>C
NM_005609.4(PYGM):c.2313-1G>A
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=)
NM_005609.4(PYGM):c.2326G>A (p.Ala776Thr)
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.2342A>G (p.Tyr781Cys) rs2135823341
NM_005609.4(PYGM):c.2343C>T (p.Tyr781=)
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr)
NM_005609.4(PYGM):c.2355G>A (p.Gln785=) rs1592405031
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.2368G>A (p.Ala790Thr)
NM_005609.4(PYGM):c.2370C>T (p.Ala790=)
NM_005609.4(PYGM):c.2370del (p.Leu791fs)
NM_005609.4(PYGM):c.2371T>C (p.Leu791=)
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe) rs2058315104
NM_005609.4(PYGM):c.2376C>T (p.Tyr792=)
NM_005609.4(PYGM):c.2379+10C>A rs2135823178
NM_005609.4(PYGM):c.2379+11C>A
NM_005609.4(PYGM):c.2379+11C>T
NM_005609.4(PYGM):c.2379+1G>A
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT rs2135823216
NM_005609.4(PYGM):c.2380-11T>G
NM_005609.4(PYGM):c.2380-14C>T
NM_005609.4(PYGM):c.2380-15C>G
NM_005609.4(PYGM):c.2380-16T>C
NM_005609.4(PYGM):c.2380-1G>A rs1555133248
NM_005609.4(PYGM):c.2380-2A>G
NM_005609.4(PYGM):c.2380-6C>T rs2135822859
NM_005609.4(PYGM):c.2380-7C>T
NM_005609.4(PYGM):c.2380-8A>G
NM_005609.4(PYGM):c.2382C>T (p.Asn794=) rs540487525
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln)
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.2394del (p.Glu797_Trp798insTer)
NM_005609.4(PYGM):c.2398C>A (p.Arg800=)
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln)
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln)
NM_005609.4(PYGM):c.2412G>C (p.Arg804=) rs199927544
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr)
NM_005609.4(PYGM):c.2421C>G (p.Ala807=)
NM_005609.4(PYGM):c.242A>G (p.Lys81Arg)
NM_005609.4(PYGM):c.243+13A>C
NM_005609.4(PYGM):c.243+14G>A
NM_005609.4(PYGM):c.243+14G>T
NM_005609.4(PYGM):c.243+16C>T
NM_005609.4(PYGM):c.243+18G>C
NM_005609.4(PYGM):c.243+8T>C
NM_005609.4(PYGM):c.2433G>A (p.Lys811=)
NM_005609.4(PYGM):c.244-14G>A
NM_005609.4(PYGM):c.244-15C>T
NM_005609.4(PYGM):c.244-18A>G
NM_005609.4(PYGM):c.244-1G>A rs2135840980
NM_005609.4(PYGM):c.244-20C>G
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
NM_005609.4(PYGM):c.244-9T>C
NM_005609.4(PYGM):c.2445C>T (p.Asp815=)
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=)
NM_005609.4(PYGM):c.2460G>A (p.Gln820=)
NM_005609.4(PYGM):c.2462A>G (p.Tyr821Cys)
NM_005609.4(PYGM):c.2465C>T (p.Ala822Val)
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp)
NM_005609.4(PYGM):c.2469G>A (p.Arg823=)
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
NM_005609.4(PYGM):c.2487G>A (p.Glu829=) rs1199818497
NM_005609.4(PYGM):c.2490T>C (p.Pro830=)
NM_005609.4(PYGM):c.2493C>T (p.Ser831=) rs1255956938
NM_005609.4(PYGM):c.2496C>T (p.Arg832=)
NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly)
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys)
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala)
NM_005609.4(PYGM):c.2515G>A (p.Asp839Asn)
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val) rs2058310112
NM_005609.4(PYGM):c.2518G>A (p.Glu840Lys)
NM_005609.4(PYGM):c.251_261del (p.Tyr84fs) rs1057516329
NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn)
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)
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.286C>T (p.Leu96=) rs2135840874
NM_005609.4(PYGM):c.297C>T (p.Thr99=)
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.321T>C (p.Asn107=)
NM_005609.4(PYGM):c.324C>T (p.Ala108=) rs2135840802
NM_005609.4(PYGM):c.333G>A (p.Glu111=)
NM_005609.4(PYGM):c.345+11G>A rs760751053
NM_005609.4(PYGM):c.345+12G>A
NM_005609.4(PYGM):c.345+12G>T
NM_005609.4(PYGM):c.345+14G>A
NM_005609.4(PYGM):c.345+17G>C
NM_005609.4(PYGM):c.345+17_345+18delinsAA
NM_005609.4(PYGM):c.345+18C>T
NM_005609.4(PYGM):c.345+20A>T
NM_005609.4(PYGM):c.345+2TG[3]
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
NM_005609.4(PYGM):c.346-12T>C
NM_005609.4(PYGM):c.346-13C>T
NM_005609.4(PYGM):c.346-16A>G
NM_005609.4(PYGM):c.346-19G>A
NM_005609.4(PYGM):c.346-4C>T rs2135840541
NM_005609.4(PYGM):c.346-5T>C rs1016613332
NM_005609.4(PYGM):c.346-5T>G
NM_005609.4(PYGM):c.348G>A (p.Leu116=) rs1341899522
NM_005609.4(PYGM):c.354G>C (p.Leu118=)
NM_005609.4(PYGM):c.357C>T (p.Asp119=)
NM_005609.4(PYGM):c.358A>C (p.Met120Leu)
NM_005609.4(PYGM):c.359T>C (p.Met120Thr)
NM_005609.4(PYGM):c.369G>A (p.Leu123=)
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)
NM_005609.4(PYGM):c.395_408del (p.Leu132fs) rs1565538121
NM_005609.4(PYGM):c.396G>C (p.Leu132=)
NM_005609.4(PYGM):c.398del (p.Gly133fs)
NM_005609.4(PYGM):c.3G>A (p.Met1Ile)
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg) rs780246932
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg)
NM_005609.4(PYGM):c.405G>A (p.Gly135=)
NM_005609.4(PYGM):c.405G>T (p.Gly135=)
NM_005609.4(PYGM):c.406G>A (p.Gly136Ser)
NM_005609.4(PYGM):c.407del (p.Gly136fs) rs786204723
NM_005609.4(PYGM):c.409C>T (p.Leu137=)
NM_005609.4(PYGM):c.414C>A (p.Gly138=) rs757263362
NM_005609.4(PYGM):c.414C>T (p.Gly138=)
NM_005609.4(PYGM):c.415C>G (p.Arg139Gly)
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.417G>T (p.Arg139=) rs1247168884
NM_005609.4(PYGM):c.418C>T (p.Leu140=) rs2135840331
NM_005609.4(PYGM):c.420G>A (p.Leu140=)
NM_005609.4(PYGM):c.424+12G>C
NM_005609.4(PYGM):c.424+1G>A
NM_005609.4(PYGM):c.424+1G>T
NM_005609.4(PYGM):c.424+4A>G
NM_005609.4(PYGM):c.424+7A>C rs759436324
NM_005609.4(PYGM):c.424+8G>A
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
NM_005609.4(PYGM):c.425-18C>T
NM_005609.4(PYGM):c.425-2A>G rs752851284
NM_005609.4(PYGM):c.425-4C>T
NM_005609.4(PYGM):c.425-5C>A
NM_005609.4(PYGM):c.425-5C>T
NM_005609.4(PYGM):c.425-6C>T
NM_005609.4(PYGM):c.438C>T (p.Asp146=)
NM_005609.4(PYGM):c.445_448del (p.Ala149fs) rs1057517400
NM_005609.4(PYGM):c.454G>A (p.Gly152Ser)
NM_005609.4(PYGM):c.456C>G (p.Gly152=)
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)
NM_005609.4(PYGM):c.462C>T (p.Ala154=) rs1410374422
NM_005609.4(PYGM):c.462dup (p.Ala155fs)
NM_005609.4(PYGM):c.465C>T (p.Ala155=) rs2058407860
NM_005609.4(PYGM):c.46G>A (p.Val16Met)
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp) rs2058407754
NM_005609.4(PYGM):c.470G>T (p.Gly157Val)
NM_005609.4(PYGM):c.472dup (p.Tyr158fs)
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg) rs760654579
NM_005609.4(PYGM):c.485_486del (p.Arg161_Tyr162insTer)
NM_005609.4(PYGM):c.493_514del (p.Gly165fs) rs2135839973
NM_005609.4(PYGM):c.495G>C (p.Gly165=)
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)
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del) rs764823441
NM_005609.4(PYGM):c.50G>A (p.Arg17His)
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=)
NM_005609.4(PYGM):c.528+13G>A
NM_005609.4(PYGM):c.528+1G>A rs1262967083
NM_005609.4(PYGM):c.528+1G>T
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
NM_005609.4(PYGM):c.529-12C>T
NM_005609.4(PYGM):c.529-13_529-10del
NM_005609.4(PYGM):c.529-15C>G
NM_005609.4(PYGM):c.529-18G>C
NM_005609.4(PYGM):c.535G>C (p.Glu179Gln)
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.554G>A (p.Arg185His)
NM_005609.4(PYGM):c.558C>G (p.Tyr186Ter)
NM_005609.4(PYGM):c.558del (p.Arg185_Tyr186insTer)
NM_005609.4(PYGM):c.55C>T (p.Leu19=)
NM_005609.4(PYGM):c.55dup (p.Leu19fs)
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.579C>T (p.Ala193=)
NM_005609.4(PYGM):c.580del (p.Arg194fs)
NM_005609.4(PYGM):c.582G>T (p.Arg194=) rs2135839278
NM_005609.4(PYGM):c.586G>A (p.Glu196Lys)
NM_005609.4(PYGM):c.593C>T (p.Thr198Met)
NM_005609.4(PYGM):c.600T>A (p.Pro200=) rs2135839246
NM_005609.4(PYGM):c.609C>T (p.Phe203=)
NM_005609.4(PYGM):c.60C>A (p.Ala20=)
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
NM_005609.4(PYGM):c.615C>T (p.Gly205=)
NM_005609.4(PYGM):c.624G>A (p.Glu208=)
NM_005609.4(PYGM):c.627C>T (p.His209=) rs2135839184
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser)
NM_005609.4(PYGM):c.630C>T (p.Thr210=) rs115141783
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=)
NM_005609.4(PYGM):c.648G>A (p.Trp216Ter)
NM_005609.4(PYGM):c.651G>T (p.Val217=)
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)
NM_005609.4(PYGM):c.658_659del (p.Gln220fs) rs766199191
NM_005609.4(PYGM):c.658del (p.Gln220fs)
NM_005609.4(PYGM):c.660+13_660+15del rs760532304
NM_005609.4(PYGM):c.660+17G>A
NM_005609.4(PYGM):c.660+18G>C
NM_005609.4(PYGM):c.660+18G>T
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
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.661-7C>A rs2135836733
NM_005609.4(PYGM):c.661-9C>T rs776779910
NM_005609.4(PYGM):c.667C>G (p.Leu223Val) rs772025653
NM_005609.4(PYGM):c.667C>T (p.Leu223=)
NM_005609.4(PYGM):c.677_681dup (p.Asp228fs)
NM_005609.4(PYGM):c.678C>T (p.Pro226=)
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del) rs1555136828
NM_005609.4(PYGM):c.681C>A (p.Tyr227Ter) rs377503100
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=)
NM_005609.4(PYGM):c.690C>T (p.Pro230=) rs946190237
NM_005609.4(PYGM):c.691G>A (p.Val231Met)
NM_005609.4(PYGM):c.693G>A (p.Val231=)
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala)
NM_005609.4(PYGM):c.699C>T (p.Gly233=) rs2135836588
NM_005609.4(PYGM):c.699del (p.Tyr234fs)
NM_005609.4(PYGM):c.708C>T (p.Asn236=) rs2135836560
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
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.732C>G (p.Leu244=) rs542897023
NM_005609.4(PYGM):c.734G>A (p.Trp245Ter) rs2135836483
NM_005609.4(PYGM):c.735G>A (p.Trp245Ter)
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro) rs1555135785
NM_005609.4(PYGM):c.739G>A (p.Ala247Thr)
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=)
NM_005609.4(PYGM):c.75G>A (p.Val25=)
NM_005609.4(PYGM):c.768G>A (p.Lys256=)
NM_005609.4(PYGM):c.772+10T>C
NM_005609.4(PYGM):c.772+14C>T
NM_005609.4(PYGM):c.772+16G>A
NM_005609.4(PYGM):c.772+18T>G rs2135836360
NM_005609.4(PYGM):c.772+1G>T
NM_005609.4(PYGM):c.772+2T>A
NM_005609.4(PYGM):c.772+2_772+3del
NM_005609.4(PYGM):c.772+8C>G
NM_005609.4(PYGM):c.773-1G>C rs2135836264
NM_005609.4(PYGM):c.773-5C>G
NM_005609.4(PYGM):c.773-5C>T rs748541324
NM_005609.4(PYGM):c.773-6C>G
NM_005609.4(PYGM):c.773-9G>A
NM_005609.4(PYGM):c.776dup (p.Asn259fs)
NM_005609.4(PYGM):c.777T>C (p.Asn259=) rs1357492907
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser)
NM_005609.4(PYGM):c.783T>G (p.Gly261=)
NM_005609.4(PYGM):c.799G>C (p.Val267Leu)
NM_005609.4(PYGM):c.801G>A (p.Val267=)
NM_005609.4(PYGM):c.802T>C (p.Leu268=) rs750576348
NM_005609.4(PYGM):c.803del (p.Leu268fs)
NM_005609.4(PYGM):c.80A>G (p.Glu27Gly)
NM_005609.4(PYGM):c.814C>T (p.Leu272=)
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>G (p.Ile276Met)
NM_005609.4(PYGM):c.828C>T (p.Ile276=) rs1198004865
NM_005609.4(PYGM):c.82C>T (p.Leu28=)
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro) rs775556109
NM_005609.4(PYGM):c.839_843del (p.Leu280fs)
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=)
NM_005609.4(PYGM):c.855+10C>A rs780270624
NM_005609.4(PYGM):c.855+13del
NM_005609.4(PYGM):c.855+14T>G
NM_005609.4(PYGM):c.855+15G>A
NM_005609.4(PYGM):c.855+19T>G
NM_005609.4(PYGM):c.855+1G>A rs2135836123
NM_005609.4(PYGM):c.855+20G>A
NM_005609.4(PYGM):c.855+3G>T
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
NM_005609.4(PYGM):c.855+9C>T
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys)
NM_005609.4(PYGM):c.856-12T>C rs2135835596
NM_005609.4(PYGM):c.856-17C>A
NM_005609.4(PYGM):c.856-2A>C rs1565536363
NM_005609.4(PYGM):c.856-6C>A
NM_005609.4(PYGM):c.856-8G>C rs759072956
NM_005609.4(PYGM):c.856-9T>C
NM_005609.4(PYGM):c.864A>G (p.Glu288=) rs2135835559
NM_005609.4(PYGM):c.873G>A (p.Glu291=)
NM_005609.4(PYGM):c.880C>T (p.Leu294=)
NM_005609.4(PYGM):c.882G>A (p.Leu294=)
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln)
NM_005609.4(PYGM):c.889G>T (p.Glu297Ter)
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.922del (p.Ile308fs)
NM_005609.4(PYGM):c.932G>A (p.Arg311His)
NM_005609.4(PYGM):c.936C>T (p.Phe312=)
NM_005609.4(PYGM):c.941C>A (p.Ser314Tyr)
NM_005609.4(PYGM):c.945C>G (p.Ser315=) rs2135835417
NM_005609.4(PYGM):c.945C>T (p.Ser315=)
NM_005609.4(PYGM):c.966C>T (p.Pro322=) rs377041639
NM_005609.4(PYGM):c.967G>T (p.Val323Leu) rs770104418
NM_005609.4(PYGM):c.96C>T (p.Phe32=)
NM_005609.4(PYGM):c.970C>G (p.Arg324Gly)
NM_005609.4(PYGM):c.974C>T (p.Thr325Met)
NM_005609.4(PYGM):c.977A>T (p.Asn326Ile)
NM_005609.4(PYGM):c.978C>T (p.Asn326=)
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)
NM_005609.4(PYGM):c.990C>T (p.Phe330=) rs2135835271
NM_005609.4(PYGM):c.992C>A (p.Pro331Gln)
NM_005609.4(PYGM):c.993A>C (p.Pro331=) rs748361251
NM_005609.4(PYGM):c.993A>G (p.Pro331=)
NM_005609.4(PYGM):c.999+10G>T
NM_005609.4(PYGM):c.999+16A>T
NM_005609.4(PYGM):c.999+18G>T
NM_005609.4(PYGM):c.999+1G>A
NM_005609.4(PYGM):c.999+7T>C rs1565536175
NM_005609.4(PYGM):c.999+8G>A
NM_005609.4(PYGM):c.999+9C>A rs183026465
NM_005609.4(PYGM):c.999+9C>G
NM_005609.4(PYGM):c.999+9C>T rs183026465

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