NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser)
|
rs145881639
|
0.00039
|
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.208C>T (p.Arg70Cys)
|
rs765844107
|
0.00018
|
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)
|
rs200688234
|
0.00016
|
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.7C>T (p.Arg3Trp)
|
rs199565370
|
0.00010
|
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp)
|
rs531748591
|
0.00009
|
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser)
|
rs140016055
|
0.00009
|
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser)
|
rs115690781
|
0.00009
|
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr)
|
rs749358752
|
0.00007
|
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile)
|
rs151213354
|
0.00006
|
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)
|
rs750032282
|
0.00006
|
NM_005609.4(PYGM):c.1913G>T (p.Gly638Val)
|
rs776881451
|
0.00006
|
NM_005609.4(PYGM):c.502A>C (p.Asn168His)
|
rs760531401
|
0.00006
|
NM_005609.4(PYGM):c.832C>T (p.Arg278Cys)
|
rs762779955
|
0.00006
|
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.855+4C>T
|
rs199834605
|
0.00005
|
NM_005609.4(PYGM):c.1075C>T (p.Arg359Trp)
|
rs761807664
|
0.00004
|
NM_005609.4(PYGM):c.131G>A (p.Arg44His)
|
rs567482511
|
0.00004
|
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)
|
rs758175735
|
0.00004
|
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys)
|
rs757292296
|
0.00004
|
NM_005609.4(PYGM):c.727C>T (p.Arg243Cys)
|
rs141055359
|
0.00004
|
NM_005609.4(PYGM):c.929G>A (p.Arg310His)
|
rs759130375
|
0.00004
|
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val)
|
rs370291854
|
0.00003
|
NM_005609.4(PYGM):c.1492C>T (p.Pro498Ser)
|
rs200101718
|
0.00003
|
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly)
|
rs775496411
|
0.00003
|
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)
|
rs747495987
|
0.00003
|
NM_005609.4(PYGM):c.64G>A (p.Val22Met)
|
rs140731551
|
0.00003
|
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.178G>A (p.Val60Met)
|
rs765962705
|
0.00002
|
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys)
|
rs771016457
|
0.00002
|
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser)
|
rs755716626
|
0.00002
|
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser)
|
rs765656412
|
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.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00002
|
NM_005609.4(PYGM):c.818C>T (p.Ala273Val)
|
rs768576604
|
0.00002
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln)
|
rs548646628
|
0.00001
|
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln)
|
rs756303162
|
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.1748A>G (p.His583Arg)
|
rs760543538
|
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.2278A>C (p.Lys760Gln)
|
rs754822104
|
0.00001
|
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)
|
rs377401213
|
0.00001
|
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)
|
rs1213033233
|
0.00001
|
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp)
|
rs747567834
|
0.00001
|
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)
|
rs757670205
|
0.00001
|
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile)
|
rs147571836
|
0.00001
|
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr)
|
rs753687960
|
0.00001
|
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn)
|
rs551666681
|
0.00001
|
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys)
|
rs749507354
|
0.00001
|
NM_005609.4(PYGM):c.618T>A (p.His206Gln)
|
rs371343340
|
0.00001
|
NM_005609.4(PYGM):c.704G>A (p.Arg235His)
|
rs371247639
|
0.00001
|
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys)
|
rs779706675
|
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.98A>G (p.Asn33Ser)
|
rs886048463
|
0.00001
|
NC_000011.9:g.(?_64520525)_(64523631_?)dup
|
|
|
NM_005609.4(PYGM):c.1000G>A (p.Val334Met)
|
|
|
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala)
|
|
|
NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser)
|
|
|
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys)
|
|
|
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln)
|
|
|
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala)
|
rs1592411804
|
|
NM_005609.4(PYGM):c.1134C>A (p.His378Gln)
|
rs2135834122
|
|
NM_005609.4(PYGM):c.1142T>C (p.Leu381Pro)
|
rs1156945983
|
|
NM_005609.4(PYGM):c.1166C>A (p.Pro389Gln)
|
rs149649134
|
|
NM_005609.4(PYGM):c.1173C>A (p.His391Gln)
|
|
|
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.121G>A (p.Val41Ile)
|
|
|
NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr)
|
|
|
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys)
|
|
|
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp)
|
|
|
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr)
|
|
|
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
|
|
|
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.1298AGG[1] (p.Glu434del)
|
|
|
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
|
|
|
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys)
|
|
|
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val)
|
|
|
NM_005609.4(PYGM):c.134A>G (p.Asn45Ser)
|
|
|
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile)
|
|
|
NM_005609.4(PYGM):c.1357G>T (p.Val453Phe)
|
|
|
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr)
|
|
|
NM_005609.4(PYGM):c.1379A>G (p.His460Arg)
|
rs2135832903
|
|
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val)
|
|
|
NM_005609.4(PYGM):c.1404-20C>T
|
|
|
NM_005609.4(PYGM):c.1433A>G (p.His478Arg)
|
rs758131128
|
|
NM_005609.4(PYGM):c.1443G>C (p.Gln481His)
|
rs767125939
|
|
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser)
|
|
|
NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys)
|
|
|
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met)
|
|
|
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu)
|
|
|
NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro)
|
|
|
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr)
|
|
|
NM_005609.4(PYGM):c.1620+5G>T
|
rs2135831177
|
|
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys)
|
|
|
NM_005609.4(PYGM):c.1685C>T (p.Ser562Leu)
|
|
|
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln)
|
rs759218298
|
|
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
|
|
|
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr)
|
|
|
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys)
|
rs1413461008
|
|
NM_005609.4(PYGM):c.1832C>T (p.Ala611Val)
|
|
|
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu)
|
|
|
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr)
|
rs1592409000
|
|
NM_005609.4(PYGM):c.1919G>A (p.Arg640His)
|
|
|
NM_005609.4(PYGM):c.193G>C (p.Val65Leu)
|
|
|
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr)
|
|
|
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr)
|
rs2058348746
|
|
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg)
|
rs755716626
|
|
NM_005609.4(PYGM):c.208_210del (p.Arg70del)
|
|
|
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys)
|
|
|
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile)
|
|
|
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg)
|
|
|
NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro)
|
rs370144967
|
|
NM_005609.4(PYGM):c.2249T>G (p.Phe750Cys)
|
|
|
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu)
|
|
|
NM_005609.4(PYGM):c.2301G>C (p.Met767Ile)
|
|
|
NM_005609.4(PYGM):c.2306A>C (p.His769Pro)
|
|
|
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp)
|
rs369382075
|
|
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr)
|
|
|
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg)
|
rs750356895
|
|
NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr)
|
|
|
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe)
|
rs2058315104
|
|
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln)
|
|
|
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln)
|
|
|
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln)
|
|
|
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr)
|
|
|
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp)
|
|
|
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.2525T>A (p.Ile842Asn)
|
|
|
NM_005609.4(PYGM):c.345+17_345+18delinsAA
|
|
|
NM_005609.4(PYGM):c.345G>C (p.Gln115His)
|
rs2135840732
|
|
NM_005609.4(PYGM):c.358A>C (p.Met120Leu)
|
|
|
NM_005609.4(PYGM):c.359T>C (p.Met120Thr)
|
|
|
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg)
|
rs2058409644
|
|
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg)
|
rs2135840127
|
|
NM_005609.4(PYGM):c.46G>A (p.Val16Met)
|
|
|
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp)
|
rs2058407754
|
|
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg)
|
rs760654579
|
|
NM_005609.4(PYGM):c.50G>A (p.Arg17His)
|
|
|
NM_005609.4(PYGM):c.593C>T (p.Thr198Met)
|
|
|
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser)
|
|
|
NM_005609.4(PYGM):c.691G>A (p.Val231Met)
|
|
|
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala)
|
|
|
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
|
|
|
NM_005609.4(PYGM):c.728G>A (p.Arg243His)
|
rs1312195500
|
|
NM_005609.4(PYGM):c.739G>A (p.Ala247Thr)
|
|
|
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser)
|
|
|
NM_005609.4(PYGM):c.799G>C (p.Val267Leu)
|
|
|
NM_005609.4(PYGM):c.80A>G (p.Glu27Gly)
|
|
|
NM_005609.4(PYGM):c.828C>G (p.Ile276Met)
|
|
|
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro)
|
rs775556109
|
|
NM_005609.4(PYGM):c.855+3G>T
|
|
|
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys)
|
|
|
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln)
|
|
|
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.932G>A (p.Arg311His)
|
|
|
NM_005609.4(PYGM):c.967G>T (p.Val323Leu)
|
rs770104418
|
|
NM_005609.4(PYGM):c.970C>G (p.Arg324Gly)
|
|
|
NM_005609.4(PYGM):c.977A>T (p.Asn326Ile)
|
|
|
NM_005609.4(PYGM):c.982G>C (p.Asp328His)
|
rs758682386
|
|
NM_005609.4(PYGM):c.988T>C (p.Phe330Leu)
|
|
|