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
|
|