ClinVar Miner

List of variants reported as likely benign for Glycogen storage disease, type V by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 677
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HGVS dbSNP gnomAD frequency
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.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.2286T>G (p.Ile762Met) rs75685607 0.00126
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.2112G>A (p.Ala704=) rs61737361 0.00068
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 0.00042
NM_005609.4(PYGM):c.1160G>A (p.Arg387His) rs200357590 0.00034
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.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.72C>T (p.Asn24=) rs757114579 0.00018
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.1769-12G>A rs377117150 0.00015
NM_005609.4(PYGM):c.558C>T (p.Tyr186=) rs144298015 0.00015
NM_005609.4(PYGM):c.1403+5G>A rs373040789 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.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.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.1371G>A (p.Ala457=) rs766082496 0.00006
NM_005609.4(PYGM):c.1455C>T (p.Asn485=) rs149123972 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.1239+9G>A rs374937711 0.00005
NM_005609.4(PYGM):c.1546C>T (p.Leu516=) rs767703629 0.00005
NM_005609.4(PYGM):c.1185G>A (p.Thr395=) rs1347426590 0.00004
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) rs769602726 0.00004
NM_005609.4(PYGM):c.1353C>T (p.His451=) rs377599118 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.424+16C>T rs201194596 0.00004
NM_005609.4(PYGM):c.528+9C>T rs371349986 0.00004
NM_005609.4(PYGM):c.897C>T (p.Phe299=) rs114363966 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.1362C>T (p.Asn454=) rs375294505 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.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.60C>T (p.Ala20=) rs770037071 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.1093-5G>A rs745663647 0.00002
NM_005609.4(PYGM):c.1194G>A (p.Pro398=) rs771508536 0.00002
NM_005609.4(PYGM):c.1239+8C>T rs886048461 0.00002
NM_005609.4(PYGM):c.1519-7C>T rs775468145 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.1941G>A (p.Glu647=) rs754483073 0.00002
NM_005609.4(PYGM):c.2010G>A (p.Ala670=) rs774235610 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.2312+16C>T rs184694130 0.00002
NM_005609.4(PYGM):c.2463T>C (p.Tyr821=) rs1236553650 0.00002
NM_005609.4(PYGM):c.31A>C (p.Arg11=) rs776312721 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.468T>C (p.Tyr156=) rs139815072 0.00002
NM_005609.4(PYGM):c.474C>T (p.Tyr158=) rs766020669 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.661-10C>T rs759810824 0.00002
NM_005609.4(PYGM):c.81G>A (p.Glu27=) rs758383567 0.00002
NM_005609.4(PYGM):c.999+10G>A rs199638571 0.00002
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.1092+15C>T rs1319046232 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.1167G>A (p.Pro389=) rs775798000 0.00001
NM_005609.4(PYGM):c.1239+7C>T rs1382003123 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.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.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.1575T>C (p.Phe525=) rs371787613 0.00001
NM_005609.4(PYGM):c.1620+15A>C rs1463934943 0.00001
NM_005609.4(PYGM):c.1621-14G>A rs770892872 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.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.1970-5C>T rs1414755282 0.00001
NM_005609.4(PYGM):c.198G>C (p.Gly66=) rs776064700 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.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.2271C>T (p.Asp757=) rs1312751218 0.00001
NM_005609.4(PYGM):c.2274G>A (p.Leu758=) rs765011069 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.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.244-7T>C rs773415576 0.00001
NM_005609.4(PYGM):c.2451C>T (p.Thr817=) rs2058311690 0.00001
NM_005609.4(PYGM):c.2466C>T (p.Ala822=) rs778504471 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.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.346-20T>G rs1025560272 0.00001
NM_005609.4(PYGM):c.352C>T (p.Leu118=) rs770341565 0.00001
NM_005609.4(PYGM):c.489G>A (p.Glu163=) rs767119000 0.00001
NM_005609.4(PYGM):c.657A>G (p.Thr219=) rs754590975 0.00001
NM_005609.4(PYGM):c.687G>A (p.Thr229=) rs764624576 0.00001
NM_005609.4(PYGM):c.723C>T (p.Thr241=) rs772848708 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.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.963T>C (p.Asp321=) rs772678994 0.00001
NM_005609.4(PYGM):c.975G>A (p.Thr325=) rs747106887 0.00001
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.1000-17C>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.100C>A (p.Arg34=) rs531748591
NM_005609.4(PYGM):c.1020C>T (p.Asp340=) rs1376160425
NM_005609.4(PYGM):c.1029C>T (p.Pro343=)
NM_005609.4(PYGM):c.1032C>T (p.Ser344=)
NM_005609.4(PYGM):c.1041C>T (p.Ile347=)
NM_005609.4(PYGM):c.1048C>T (p.Leu350=)
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.1093-13C>A
NM_005609.4(PYGM):c.1093-16C>G
NM_005609.4(PYGM):c.1093-18G>T
NM_005609.4(PYGM):c.1093-20C>T
NM_005609.4(PYGM):c.1093-6T>C
NM_005609.4(PYGM):c.1093-9G>A rs571244371
NM_005609.4(PYGM):c.1113G>A (p.Arg371=) rs777245778
NM_005609.4(PYGM):c.111T>C (p.His37=) rs2135842719
NM_005609.4(PYGM):c.1128C>T (p.Thr376=)
NM_005609.4(PYGM):c.1137G>A (p.Thr379=) rs756447366
NM_005609.4(PYGM):c.1137G>T (p.Thr379=)
NM_005609.4(PYGM):c.1149G>A (p.Glu383=)
NM_005609.4(PYGM):c.114C>T (p.Phe38=)
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.1189C>T (p.Leu397=) rs1592411631
NM_005609.4(PYGM):c.1195C>A (p.Arg399=) rs747675778
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.1212C>T (p.Ile404=) rs2135833826
NM_005609.4(PYGM):c.1218G>A (p.Glu406=) rs757762621
NM_005609.4(PYGM):c.1224C>T (p.Asn408=) rs1440882452
NM_005609.4(PYGM):c.1236C>T (p.Leu412=)
NM_005609.4(PYGM):c.1239+13G>C
NM_005609.4(PYGM):c.1239+17G>T
NM_005609.4(PYGM):c.1239+8C>A rs886048461
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.1240-9T>C rs2135833424
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.1254A>G (p.Ala418=)
NM_005609.4(PYGM):c.1260A>C (p.Pro420=)
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=)
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.1275G>C (p.Arg425=)
NM_005609.4(PYGM):c.1275G>T (p.Arg425=)
NM_005609.4(PYGM):c.1284C>T (p.Arg428=)
NM_005609.4(PYGM):c.1293G>A (p.Leu431=)
NM_005609.4(PYGM):c.1302G>A (p.Glu434=)
NM_005609.4(PYGM):c.1305C>A (p.Gly435=)
NM_005609.4(PYGM):c.1320C>A (p.Ile440=)
NM_005609.4(PYGM):c.1323C>T (p.Asn441=) rs1202544673
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=)
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.1350G>A (p.Ser450=) rs1399322723
NM_005609.4(PYGM):c.1350G>T (p.Ser450=) rs1399322723
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.135T>C (p.Asn45=) rs2058421873
NM_005609.4(PYGM):c.1365C>G (p.Gly455=)
NM_005609.4(PYGM):c.1368G>A (p.Val456=)
NM_005609.4(PYGM):c.1371G>T (p.Ala457=)
NM_005609.4(PYGM):c.1374C>T (p.Arg458=)
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.1403+12T>C
NM_005609.4(PYGM):c.1403+15C>G
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.1404-4G>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.1431T>A (p.Pro477=) rs2135832336
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.1458C>G (p.Gly486=)
NM_005609.4(PYGM):c.1461C>A (p.Ile487=)
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.150A>G (p.Arg50=)
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+20C>T
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.1519-5C>T rs1006803617
NM_005609.4(PYGM):c.1519-5del
NM_005609.4(PYGM):c.1524C>T (p.Ile508=) rs540436223
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.1551C>T (p.Asp517=)
NM_005609.4(PYGM):c.1555C>T (p.Leu519=) rs774694090
NM_005609.4(PYGM):c.1569C>T (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.156C>T (p.Tyr52=)
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=)
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
NM_005609.4(PYGM):c.1620+16A>G
NM_005609.4(PYGM):c.1620+17T>C
NM_005609.4(PYGM):c.1620+7A>G
NM_005609.4(PYGM):c.1621-13T>A
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.1621-20T>C
NM_005609.4(PYGM):c.1621-8G>A
NM_005609.4(PYGM):c.1623A>G (p.Glu541=) rs1592409772
NM_005609.4(PYGM):c.1626C>T (p.Asn542=)
NM_005609.4(PYGM):c.1630T>C (p.Leu544=) rs973893149
NM_005609.4(PYGM):c.1668C>T (p.Val556=)
NM_005609.4(PYGM):c.166C>T (p.Leu56=) rs2135842567
NM_005609.4(PYGM):c.1686A>C (p.Ser562=)
NM_005609.4(PYGM):c.1695C>T (p.Asp565=) rs2058360148
NM_005609.4(PYGM):c.1719A>G (p.Glu573=) rs2135830648
NM_005609.4(PYGM):c.1722T>C (p.Tyr574=)
NM_005609.4(PYGM):c.1726C>A (p.Arg576=)
NM_005609.4(PYGM):c.1731G>A (p.Gln577=)
NM_005609.4(PYGM):c.1734C>T (p.Leu578=)
NM_005609.4(PYGM):c.1737C>T (p.Leu579=)
NM_005609.4(PYGM):c.1752C>T (p.Val584=)
NM_005609.4(PYGM):c.1758C>T (p.Thr586=) rs2135830553
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.1769-4A>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.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.1809T>C (p.Thr603=) rs2135830103
NM_005609.4(PYGM):c.180G>A (p.Val60=) rs1395197579
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+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.1828-5C>A
NM_005609.4(PYGM):c.1828-7C>A
NM_005609.4(PYGM):c.1828-8C>T
NM_005609.4(PYGM):c.1842C>T (p.Tyr614=)
NM_005609.4(PYGM):c.1845C>T (p.His615=) rs552502008
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.1902C>T (p.Asp634=) rs776043985
NM_005609.4(PYGM):c.1917C>T (p.Asp639=) rs1565533767
NM_005609.4(PYGM):c.1923C>G (p.Leu641=)
NM_005609.4(PYGM):c.192C>T (p.Leu64=) rs912904130
NM_005609.4(PYGM):c.1947C>T (p.Tyr649=)
NM_005609.4(PYGM):c.1953C>A (p.Val651=) rs2058354200
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+20A>G
NM_005609.4(PYGM):c.1969+7G>T
NM_005609.4(PYGM):c.1969+9T>C
NM_005609.4(PYGM):c.1970-19C>T
NM_005609.4(PYGM):c.1970-20C>T
NM_005609.4(PYGM):c.1970-20_1970-5dup rs747398326
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.1986C>T (p.Asp662=) rs1592408469
NM_005609.4(PYGM):c.1992T>C (p.Ser664=)
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.2028C>A (p.Gly676=)
NM_005609.4(PYGM):c.2031C>A (p.Thr677=)
NM_005609.4(PYGM):c.2043G>A (p.Lys681=) rs2058348408
NM_005609.4(PYGM):c.2064G>A (p.Leu688=)
NM_005609.4(PYGM):c.2076C>A (p.Thr692=) rs1186035337
NM_005609.4(PYGM):c.207C>T (p.Ile69=)
NM_005609.4(PYGM):c.2085G>A (p.Gly695=) rs147725917
NM_005609.4(PYGM):c.2085G>T (p.Gly695=)
NM_005609.4(PYGM):c.2088C>T (p.Ala696=) rs2058347562
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.2118G>A (p.Glu706=) rs2135828438
NM_005609.4(PYGM):c.2127C>T (p.Phe709=)
NM_005609.4(PYGM):c.2133C>T (p.Ile711=)
NM_005609.4(PYGM):c.213G>T (p.Thr71=)
NM_005609.4(PYGM):c.2151G>A (p.Glu717=)
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+20C>T
NM_005609.4(PYGM):c.2177+9G>A rs1592408105
NM_005609.4(PYGM):c.2178-12dup
NM_005609.4(PYGM):c.2178-14C>T
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.2184T>C (p.Asn728=) rs1009359544
NM_005609.4(PYGM):c.2187C>T (p.Ala729=)
NM_005609.4(PYGM):c.2190G>A (p.Gln730=)
NM_005609.4(PYGM):c.2214G>A (p.Glu738=) rs772707447
NM_005609.4(PYGM):c.2220G>A (p.Arg740=)
NM_005609.4(PYGM):c.2229T>C (p.Ile743=) rs1592405688
NM_005609.4(PYGM):c.2238G>A (p.Leu746=)
NM_005609.4(PYGM):c.2244T>C (p.Ser748=)
NM_005609.4(PYGM):c.2253C>T (p.Phe751=) rs1565531467
NM_005609.4(PYGM):c.2259C>A (p.Pro753=) rs747072799
NM_005609.4(PYGM):c.2259C>G (p.Pro753=)
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.2280G>A (p.Lys760=)
NM_005609.4(PYGM):c.2289C>T (p.Val763=)
NM_005609.4(PYGM):c.2292T>C (p.Asn764=) rs1592405461
NM_005609.4(PYGM):c.2307T>C (p.His769=)
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+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.2313-7C>T rs768815722
NM_005609.4(PYGM):c.2313-8C>T rs865978483
NM_005609.4(PYGM):c.2322C>A (p.Val774=)
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=)
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.2370C>T (p.Ala790=)
NM_005609.4(PYGM):c.2371T>C (p.Leu791=)
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+7G>A
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.2380-6C>T rs2135822859
NM_005609.4(PYGM):c.2380-7C>T
NM_005609.4(PYGM):c.2380-8A>G
NM_005609.4(PYGM):c.2385A>C (p.Pro795=) rs2135822804
NM_005609.4(PYGM):c.2398C>A (p.Arg800=)
NM_005609.4(PYGM):c.2412G>C (p.Arg804=) rs199927544
NM_005609.4(PYGM):c.2421C>G (p.Ala807=)
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.244-20C>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.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.2469G>A (p.Arg823=)
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.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.306C>T (p.Asn102=) rs2135840838
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+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.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.346-20T>A
NM_005609.4(PYGM):c.346-4C>T rs2135840541
NM_005609.4(PYGM):c.346-5T>C rs1016613332
NM_005609.4(PYGM):c.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.369G>A (p.Leu123=)
NM_005609.4(PYGM):c.384G>A (p.Glu128=) rs1437348857
NM_005609.4(PYGM):c.396G>C (p.Leu132=)
NM_005609.4(PYGM):c.405G>A (p.Gly135=)
NM_005609.4(PYGM):c.405G>T (p.Gly135=)
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.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+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.425-4C>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.456C>G (p.Gly152=)
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.462C>T (p.Ala154=) rs1410374422
NM_005609.4(PYGM):c.465C>T (p.Ala155=) rs2058407860
NM_005609.4(PYGM):c.495G>C (p.Gly165=)
NM_005609.4(PYGM):c.504C>T (p.Asn168=) rs2135840016
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.522C>T (p.Gly174=)
NM_005609.4(PYGM):c.528+13G>A
NM_005609.4(PYGM):c.528+4AGC[3] rs2135839913
NM_005609.4(PYGM):c.528+9C>A
NM_005609.4(PYGM):c.528+9C>G
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.537G>A (p.Glu179=) rs886048462
NM_005609.4(PYGM):c.55C>T (p.Leu19=)
NM_005609.4(PYGM):c.564C>T (p.Asn188=) rs604595
NM_005609.4(PYGM):c.579C>T (p.Ala193=)
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.609C>T (p.Phe203=)
NM_005609.4(PYGM):c.60C>A (p.Ala20=)
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.630C>T (p.Thr210=) rs115141783
NM_005609.4(PYGM):c.633C>T (p.Ser211=) rs757861426
NM_005609.4(PYGM):c.642C>T (p.Ala214=)
NM_005609.4(PYGM):c.651G>T (p.Val217=)
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+17G>A
NM_005609.4(PYGM):c.660+18G>C
NM_005609.4(PYGM):c.660+18G>T
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>T rs75633423
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.667C>T (p.Leu223=)
NM_005609.4(PYGM):c.678C>T (p.Pro226=)
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.693G>A (p.Val231=)
NM_005609.4(PYGM):c.699C>T (p.Gly233=) rs2135836588
NM_005609.4(PYGM):c.708C>T (p.Asn236=) rs2135836560
NM_005609.4(PYGM):c.729C>A (p.Arg243=) rs151160016
NM_005609.4(PYGM):c.732C>G (p.Leu244=) rs542897023
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+8C>G
NM_005609.4(PYGM):c.773-14C>T
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.777T>C (p.Asn259=) rs1357492907
NM_005609.4(PYGM):c.783T>G (p.Gly261=)
NM_005609.4(PYGM):c.801G>A (p.Val267=)
NM_005609.4(PYGM):c.802T>C (p.Leu268=) rs750576348
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>T (p.Ile276=) rs1198004865
NM_005609.4(PYGM):c.82C>T (p.Leu28=)
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+14T>G
NM_005609.4(PYGM):c.855+15G>A
NM_005609.4(PYGM):c.855+19T>G
NM_005609.4(PYGM):c.855+20G>A
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.856-12T>C rs2135835596
NM_005609.4(PYGM):c.856-17C>A
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.936C>T (p.Phe312=)
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.96C>T (p.Phe32=)
NM_005609.4(PYGM):c.978C>T (p.Asn326=)
NM_005609.4(PYGM):c.987C>G (p.Ala329=) rs1565536189
NM_005609.4(PYGM):c.990C>T (p.Phe330=) rs2135835271
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+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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