|
NM_005609.4(PYGM):c.1569C>G (p.Leu523=)
|
rs114138772
|
0.01143
|
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00657
|
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
|
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)
|
rs77656150
|
0.00209
|
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00186
|
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00178
|
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
|
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met)
|
rs75685607
|
0.00112
|
|
NM_005609.4(PYGM):c.999+20C>T
|
rs201711087
|
0.00102
|
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00072
|
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00060
|
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00041
|
|
NM_005609.4(PYGM):c.1527G>T (p.Gly509=)
|
rs114730784
|
0.00036
|
|
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)
|
rs150098198
|
0.00035
|
|
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)
|
rs200357590
|
0.00034
|
|
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)
|
rs144229867
|
0.00026
|
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00025
|
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
|
NM_005609.4(PYGM):c.1143G>A (p.Leu381=)
|
rs143401208
|
0.00021
|
|
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln)
|
rs368608057
|
0.00021
|
|
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)
|
rs540487525
|
0.00017
|
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
|
NM_005609.4(PYGM):c.1215C>T (p.Tyr405=)
|
rs371264447
|
0.00015
|
|
NM_005609.4(PYGM):c.951C>T (p.Phe317=)
|
rs71581789
|
0.00015
|
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00013
|
|
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
|
rs201389731
|
0.00011
|
|
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)
|
rs143177272
|
0.00011
|
|
NM_005609.4(PYGM):c.1403+5G>A
|
rs373040789
|
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.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00008
|
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
|
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.1239+12G>A
|
rs760471706
|
0.00005
|
|
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.2178-1G>A
|
rs143670942
|
0.00005
|
|
NM_005609.4(PYGM):c.660+17G>A
|
rs767910783
|
0.00005
|
|
NM_005609.4(PYGM):c.1266C>T (p.Asp422=)
|
rs769602726
|
0.00004
|
|
NM_005609.4(PYGM):c.1466C>G (p.Pro489Arg)
|
rs398124209
|
0.00004
|
|
NM_005609.4(PYGM):c.1905G>A (p.Pro635=)
|
rs759582306
|
0.00004
|
|
NM_005609.4(PYGM):c.808C>T (p.Arg270Ter)
|
rs767739769
|
0.00004
|
|
NM_005609.4(PYGM):c.1190T>C (p.Leu397Pro)
|
rs1005687078
|
0.00003
|
|
NM_005609.4(PYGM):c.1345G>A (p.Gly449Arg)
|
rs769172044
|
0.00003
|
|
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)
|
rs752622662
|
0.00003
|
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00003
|
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00003
|
|
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)
|
rs747495987
|
0.00003
|
|
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)
|
rs954192338
|
0.00002
|
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
|
NM_005609.4(PYGM):c.1366G>A (p.Val456Met)
|
rs398124208
|
0.00002
|
|
NM_005609.4(PYGM):c.1545C>T (p.Asp515=)
|
rs1229595545
|
0.00002
|
|
NM_005609.4(PYGM):c.1760T>C (p.Leu587Pro)
|
rs761438921
|
0.00002
|
|
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)
|
rs369361532
|
0.00002
|
|
NM_005609.4(PYGM):c.252C>G (p.Tyr84Ter)
|
rs1057517145
|
0.00002
|
|
NM_005609.4(PYGM):c.345+2T>A
|
rs1219299972
|
0.00002
|
|
NM_005609.4(PYGM):c.346-9C>T
|
rs368998655
|
0.00002
|
|
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
|
rs375724338
|
0.00002
|
|
NM_005609.4(PYGM):c.780C>T (p.Val260=)
|
rs754415422
|
0.00002
|
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
|
NM_005609.4(PYGM):c.1011G>A (p.Gln337=)
|
rs767039732
|
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.1110G>A (p.Val370=)
|
rs372719040
|
0.00001
|
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
|
NM_005609.4(PYGM):c.1239+1G>A
|
rs759657964
|
0.00001
|
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
|
NM_005609.4(PYGM):c.1468C>T (p.Arg490Trp)
|
rs765612286
|
0.00001
|
|
NM_005609.4(PYGM):c.1469G>A (p.Arg490Gln)
|
rs1592410540
|
0.00001
|
|
NM_005609.4(PYGM):c.1518+9C>G
|
rs1210456408
|
0.00001
|
|
NM_005609.4(PYGM):c.152A>G (p.Asp51Gly)
|
rs397514631
|
0.00001
|
|
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)
|
rs119103252
|
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.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
|
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln)
|
rs759218298
|
0.00001
|
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00001
|
|
NM_005609.4(PYGM):c.1769-7T>C
|
rs2058357396
|
0.00001
|
|
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
|
rs115942812
|
0.00001
|
|
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp)
|
rs750195683
|
0.00001
|
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
|
NM_005609.4(PYGM):c.183C>T (p.Arg61=)
|
rs1182278359
|
0.00001
|
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
0.00001
|
|
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val)
|
rs1413827545
|
0.00001
|
|
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu)
|
rs794727189
|
0.00001
|
|
NM_005609.4(PYGM):c.2082C>T (p.Asp694=)
|
rs773543072
|
0.00001
|
|
NM_005609.4(PYGM):c.2111C>T (p.Ala704Val)
|
rs1483102315
|
0.00001
|
|
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
|
rs1045215677
|
0.00001
|
|
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
|
rs761616685
|
0.00001
|
|
NM_005609.4(PYGM):c.256C>T (p.Leu86=)
|
rs541817643
|
0.00001
|
|
NM_005609.4(PYGM):c.346-20T>G
|
rs1025560272
|
0.00001
|
|
NM_005609.4(PYGM):c.346-5T>G
|
rs1016613332
|
0.00001
|
|
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)
|
rs776680924
|
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.549G>A (p.Trp183Ter)
|
rs1223885403
|
0.00001
|
|
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
|
rs376581557
|
0.00001
|
|
NM_005609.4(PYGM):c.630C>T (p.Thr210=)
|
rs115141783
|
0.00001
|
|
NM_005609.4(PYGM):c.661-601G>A
|
rs1474863903
|
0.00001
|
|
NM_005609.4(PYGM):c.78_79del (p.Glu27fs)
|
rs755117847
|
0.00001
|
|
NM_005609.4(PYGM):c.100C>A (p.Arg34=)
|
rs531748591
|
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
rs2496659881
|
|
|
NM_005609.4(PYGM):c.1045G>A (p.Glu349Lys)
|
rs2496659888
|
|
|
NM_005609.4(PYGM):c.1119T>A (p.Cys373Ter)
|
rs2058377004
|
|
|
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)
|
rs1465752595
|
|
|
NM_005609.4(PYGM):c.125del (p.Lys42fs)
|
rs2496675458
|
|
|
NM_005609.4(PYGM):c.1278_1288dup (p.Ser430fs)
|
rs2058372554
|
|
|
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)
|
rs568496266
|
|
|
NM_005609.4(PYGM):c.1362_1394del (p.Asn454_Leu464del)
|
rs2496656680
|
|
|
NM_005609.4(PYGM):c.1363G>C (p.Gly455Arg)
|
rs201042910
|
|
|
NM_005609.4(PYGM):c.1466dup (p.Arg490fs)
|
rs886041476
|
|
|
NM_005609.4(PYGM):c.1475G>A (p.Trp492Ter)
|
rs2496655165
|
|
|
NM_005609.4(PYGM):c.1507del (p.Val503fs)
|
rs1272600960
|
|
|
NM_005609.4(PYGM):c.152ACT[2] (p.Tyr53del)
|
rs1325298827
|
|
|
NM_005609.4(PYGM):c.1545_1546del (p.Leu516fs)
|
rs2058363627
|
|
|
NM_005609.4(PYGM):c.1614G>A (p.Val538=)
|
rs747854789
|
|
|
NM_005609.4(PYGM):c.1620+1G>A
|
rs1256894448
|
|
|
NM_005609.4(PYGM):c.1621-19del
|
rs571976523
|
|
|
NM_005609.4(PYGM):c.1717G>T (p.Glu573Ter)
|
rs752848974
|
|
|
NM_005609.4(PYGM):c.1722T>G (p.Tyr574Ter)
|
rs119103260
|
|
|
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
|
rs753355735
|
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
|
NM_005609.4(PYGM):c.1828-5C>A
|
rs775492066
|
|
|
NM_005609.4(PYGM):c.1970-1G>A
|
rs1057516598
|
|
|
NM_005609.4(PYGM):c.1970-5C>G
|
rs1414755282
|
|
|
NM_005609.4(PYGM):c.198del (p.Arg67fs)
|
rs750857876
|
|
|
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.204G>A (p.Trp68Ter)
|
rs1057516349
|
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
|
NM_005609.4(PYGM):c.2146dup (p.Val716fs)
|
rs2496647974
|
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
|
NM_005609.4(PYGM):c.2259dup (p.Lys754fs)
|
rs1565531453
|
|
|
NM_005609.4(PYGM):c.2262del (p.Lys754fs)
|
rs398124210
|
|
|
NM_005609.4(PYGM):c.2275_2282del (p.Phe759fs)
|
rs2496639193
|
|
|
NM_005609.4(PYGM):c.2319del (p.Val774fs)
|
rs1462767117
|
|
|
NM_005609.4(PYGM):c.2363_2366del (p.Val788fs)
|
rs1565531128
|
|
|
NM_005609.4(PYGM):c.2370C>T (p.Ala790=)
|
rs2496637300
|
|
|
NM_005609.4(PYGM):c.2379+2_2379+3delinsAT
|
rs2135823216
|
|
|
NM_005609.4(PYGM):c.2380-1G>A
|
rs1555133248
|
|
|
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.251_261del (p.Tyr84fs)
|
rs1057516329
|
|
|
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.370G>T (p.Glu124Ter)
|
rs1555136459
|
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
|
NM_005609.4(PYGM):c.403G>A (p.Gly135Arg)
|
rs780246932
|
|
|
NM_005609.4(PYGM):c.403G>C (p.Gly135Arg)
|
rs780246932
|
|
|
NM_005609.4(PYGM):c.407del (p.Gly136fs)
|
rs786204723
|
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
|
NM_005609.4(PYGM):c.425-2A>G
|
rs752851284
|
|
|
NM_005609.4(PYGM):c.485_486del (p.Arg161_Tyr162insTer)
|
rs2496670154
|
|
|
NM_005609.4(PYGM):c.501dup (p.Asn168Ter)
|
rs1555136390
|
|
|
NM_005609.4(PYGM):c.506AGA[1] (p.Lys170del)
|
rs764823441
|
|
|
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.537G>A (p.Glu179=)
|
rs886048462
|
|
|
NM_005609.4(PYGM):c.580del (p.Arg194fs)
|
rs2496668596
|
|
|
NM_005609.4(PYGM):c.658C>T (p.Gln220Ter)
|
rs753533515
|
|
|
NM_005609.4(PYGM):c.658_659del (p.Gln220fs)
|
rs766199191
|
|
|
NM_005609.4(PYGM):c.661-5C>G
|
rs75633423
|
|
|
NM_005609.4(PYGM):c.679_686dup (p.Pro230fs)
|
|
|
|
NM_005609.4(PYGM):c.682del (p.Asp228fs)
|
rs2058388882
|
|
|
NM_005609.4(PYGM):c.777T>C (p.Asn259=)
|
rs1357492907
|
|
|
NM_005609.4(PYGM):c.922del (p.Ile308fs)
|
rs1406496254
|
|
|
NM_005609.4(PYGM):c.999+9C>T
|
rs183026465
|
|