NM_001128227.3(GNE):c.51+34T>C
|
rs7875447
|
0.75717
|
NM_005476.7(GNE):c.*2391C>T
|
rs1043313
|
0.71766
|
NM_005476.7(GNE):c.*1781G>A
|
rs16933086
|
0.17302
|
NM_005476.7(GNE):c.1817-81G>C
|
rs2296817
|
0.15990
|
NM_005476.7(GNE):c.*691A>T
|
rs10972791
|
0.11652
|
NM_005476.7(GNE):c.*1826G>C
|
rs7044157
|
0.10230
|
NM_005476.7(GNE):c.*630C>T
|
rs150102934
|
0.03992
|
NM_005476.7(GNE):c.600C>T (p.Ile200=)
|
rs7047950
|
0.02902
|
NM_005476.7(GNE):c.*1054C>A
|
rs7048468
|
0.01927
|
NM_005476.7(GNE):c.1770C>T (p.Tyr590=)
|
rs111302956
|
0.01688
|
NM_005476.7(GNE):c.*74G>A
|
rs16933089
|
0.01338
|
NM_005476.7(GNE):c.*2211C>G
|
rs150978860
|
0.01319
|
NM_001128227.3(GNE):c.-10G>A
|
rs73449614
|
0.00894
|
NM_005476.7(GNE):c.-65G>A
|
rs138897916
|
0.00463
|
NM_001128227.3(GNE):c.51+63A>G
|
rs185045598
|
0.00436
|
NM_005476.7(GNE):c.*1068A>T
|
rs187875852
|
0.00423
|
NM_005476.7(GNE):c.624T>G (p.Asp208Glu)
|
rs35224402
|
0.00389
|
NM_005476.7(GNE):c.*583G>A
|
rs182741472
|
0.00279
|
NM_005476.7(GNE):c.*1660A>G
|
rs185870650
|
0.00237
|
NM_005476.7(GNE):c.*2056C>T
|
rs183641957
|
0.00160
|
NM_005476.7(GNE):c.1872G>A (p.Ala624=)
|
rs145361930
|
0.00126
|
NM_005476.7(GNE):c.-102G>C
|
rs1053014986
|
0.00095
|
NM_005476.7(GNE):c.*1635G>A
|
rs190727651
|
0.00080
|
NM_005476.7(GNE):c.*1728C>T
|
rs41277097
|
0.00070
|
NM_005476.7(GNE):c.1267A>G (p.Ile423Val)
|
rs35638832
|
0.00066
|
NM_005476.7(GNE):c.*2576A>G
|
rs531142218
|
0.00063
|
NM_005476.7(GNE):c.1245C>T (p.Gly415=)
|
rs140784655
|
0.00059
|
NM_005476.7(GNE):c.*2679G>A
|
rs566044462
|
0.00054
|
NM_005476.7(GNE):c.165-18A>G
|
rs374105190
|
0.00038
|
NM_005476.7(GNE):c.2004C>T (p.Ser668=)
|
rs150045137
|
0.00038
|
NM_005476.7(GNE):c.1509C>G (p.Pro503=)
|
rs141172610
|
0.00036
|
NM_005476.7(GNE):c.*446C>T
|
rs886063924
|
0.00029
|
NM_005476.7(GNE):c.*2789G>A
|
rs140396892
|
0.00026
|
NM_005476.7(GNE):c.*582A>G
|
rs999645453
|
0.00026
|
NM_005476.7(GNE):c.-152G>T
|
rs142004500
|
0.00026
|
NM_005476.7(GNE):c.843C>T (p.His281=)
|
rs138694766
|
0.00023
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
NM_005476.7(GNE):c.1933+3G>A
|
rs370730412
|
0.00021
|
NM_005476.7(GNE):c.*1575C>T
|
rs761447556
|
0.00019
|
NM_005476.7(GNE):c.*208T>C
|
rs771508931
|
0.00019
|
NM_005476.7(GNE):c.*1007G>A
|
rs1192808563
|
0.00017
|
NM_005476.7(GNE):c.*2415T>A
|
rs143569888
|
0.00017
|
NM_001128227.3(GNE):c.51+17T>G
|
rs144416128
|
0.00014
|
NM_005476.7(GNE):c.*1038T>C
|
rs975309543
|
0.00014
|
NM_005476.7(GNE):c.*2269C>T
|
rs575299401
|
0.00014
|
NM_005476.7(GNE):c.21C>T (p.Asn7=)
|
rs774610596
|
0.00014
|
NM_005476.7(GNE):c.804G>A (p.Lys268=)
|
rs141814943
|
0.00013
|
NM_005476.7(GNE):c.*252A>C
|
rs745365886
|
0.00012
|
NM_005476.7(GNE):c.1620T>C (p.Leu540=)
|
rs774849278
|
0.00012
|
NM_005476.7(GNE):c.1634-7G>A
|
rs139442869
|
0.00012
|
NM_005476.7(GNE):c.*2537G>A
|
rs1042849497
|
0.00011
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_005476.7(GNE):c.*2847T>C
|
rs886063915
|
0.00010
|
NM_005476.7(GNE):c.*2877T>C
|
rs886063914
|
0.00010
|
NM_005476.7(GNE):c.1412-4G>A
|
rs146067766
|
0.00009
|
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln)
|
rs138357804
|
0.00009
|
NM_005476.7(GNE):c.616+20G>C
|
rs111358992
|
0.00009
|
NM_005476.7(GNE):c.983-4C>T
|
rs145450498
|
0.00009
|
NM_005476.7(GNE):c.1412-5C>T
|
rs369078814
|
0.00008
|
NM_005476.7(GNE):c.165-9C>T
|
rs760509369
|
0.00008
|
NM_005476.7(GNE):c.1651A>G (p.Ile551Val)
|
rs754313408
|
0.00008
|
NM_005476.7(GNE):c.1293T>A (p.Val431=)
|
rs143485388
|
0.00007
|
NM_005476.7(GNE):c.*2448A>G
|
rs757287887
|
0.00006
|
NM_005476.7(GNE):c.*573G>A
|
rs1032415165
|
0.00006
|
NM_005476.7(GNE):c.1070+5G>A
|
rs374170125
|
0.00006
|
NM_005476.7(GNE):c.1242T>C (p.Leu414=)
|
rs371881711
|
0.00006
|
NM_005476.7(GNE):c.1281+6A>T
|
rs201025841
|
0.00006
|
NM_005476.7(GNE):c.1871C>T (p.Ala624Val)
|
rs200278654
|
0.00006
|
NM_005476.7(GNE):c.*872C>T
|
rs1008750814
|
0.00005
|
NM_005476.7(GNE):c.23G>A (p.Arg8Gln)
|
rs763057654
|
0.00005
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
NM_001128227.3(GNE):c.80G>A (p.Arg27Gln)
|
rs759799606
|
0.00004
|
NM_005476.7(GNE):c.*1204T>C
|
rs183365416
|
0.00004
|
NM_005476.7(GNE):c.-42-18T>C
|
rs1359152687
|
0.00004
|
NM_005476.7(GNE):c.1020A>G (p.Gln340=)
|
rs747807631
|
0.00004
|
NM_005476.7(GNE):c.1129A>G (p.Ile377Val)
|
rs776568062
|
0.00004
|
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)
|
rs369714039
|
0.00004
|
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)
|
rs551854437
|
0.00004
|
NM_005476.7(GNE):c.1572G>A (p.Ala524=)
|
rs112824871
|
0.00004
|
NM_005476.7(GNE):c.1634-13T>C
|
rs375600956
|
0.00004
|
NM_005476.7(GNE):c.1767A>G (p.Ala589=)
|
rs777310871
|
0.00004
|
NM_005476.7(GNE):c.1908G>A (p.Ala636=)
|
rs200812140
|
0.00004
|
NM_005476.7(GNE):c.305T>C (p.Leu102Pro)
|
rs760704097
|
0.00004
|
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)
|
rs369328625
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005476.7(GNE):c.725C>T (p.Ser242Leu)
|
rs771167726
|
0.00004
|
NM_005476.7(GNE):c.726A>G (p.Ser242=)
|
rs763368889
|
0.00004
|
NM_005476.7(GNE):c.765C>T (p.Asp255=)
|
rs775805166
|
0.00004
|
NM_005476.7(GNE):c.828T>C (p.Phe276=)
|
rs770346895
|
0.00004
|
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg)
|
rs762425552
|
0.00003
|
NM_005476.7(GNE):c.*2245A>T
|
rs1193929989
|
0.00003
|
NM_005476.7(GNE):c.*512C>T
|
rs537851886
|
0.00003
|
NM_005476.7(GNE):c.*554G>A
|
rs755277976
|
0.00003
|
NM_005476.7(GNE):c.-51C>T
|
rs368282013
|
0.00003
|
NM_005476.7(GNE):c.1070+7A>G
|
rs149675783
|
0.00003
|
NM_005476.7(GNE):c.1156A>C (p.Lys386Gln)
|
rs1180382282
|
0.00003
|
NM_005476.7(GNE):c.1413C>T (p.Gly471=)
|
rs142836733
|
0.00003
|
NM_005476.7(GNE):c.1434A>G (p.Val478=)
|
rs1473072355
|
0.00003
|
NM_005476.7(GNE):c.1485G>A (p.Trp495Ter)
|
rs1212623980
|
0.00003
|
NM_005476.7(GNE):c.1634-4G>T
|
rs1021602666
|
0.00003
|
NM_005476.7(GNE):c.175C>T (p.Arg59Ter)
|
rs745517517
|
0.00003
|
NM_005476.7(GNE):c.1816+4G>C
|
rs760700813
|
0.00003
|
NM_005476.7(GNE):c.1844C>G (p.Ser615Ter)
|
rs757523840
|
0.00003
|
NM_005476.7(GNE):c.1891G>A (p.Ala631Thr)
|
rs121908626
|
0.00003
|
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)
|
rs756488394
|
0.00003
|
NM_005476.7(GNE):c.2044G>A (p.Val682Ile)
|
rs768384042
|
0.00003
|
NM_005476.7(GNE):c.2112C>T (p.Pro704=)
|
rs779967033
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005476.7(GNE):c.80C>T (p.Pro27Leu)
|
rs1236647498
|
0.00003
|
NM_005476.7(GNE):c.916C>T (p.Arg306Ter)
|
rs1057516374
|
0.00003
|
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg)
|
rs765794816
|
0.00002
|
NM_005476.7(GNE):c.*2431A>G
|
rs917794045
|
0.00002
|
NM_005476.7(GNE):c.*2766T>C
|
rs886063916
|
0.00002
|
NM_005476.7(GNE):c.1003C>T (p.Arg335Trp)
|
rs150132839
|
0.00002
|
NM_005476.7(GNE):c.1030T>C (p.Leu344=)
|
rs746461207
|
0.00002
|
NM_005476.7(GNE):c.1130del (p.Ile377fs)
|
rs982936794
|
0.00002
|
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg)
|
rs866841518
|
0.00002
|
NM_005476.7(GNE):c.1281+19T>C
|
rs1220093810
|
0.00002
|
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr)
|
rs769745306
|
0.00002
|
NM_005476.7(GNE):c.1368T>A (p.Ala456=)
|
rs779157758
|
0.00002
|
NM_005476.7(GNE):c.1408G>C (p.Val470Leu)
|
rs749320547
|
0.00002
|
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu)
|
rs201808007
|
0.00002
|
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr)
|
rs369119154
|
0.00002
|
NM_005476.7(GNE):c.1674C>T (p.His558=)
|
rs144931111
|
0.00002
|
NM_005476.7(GNE):c.1681T>G (p.Ser561Ala)
|
rs776760528
|
0.00002
|
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
|
rs121908632
|
0.00002
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
NM_005476.7(GNE):c.1816+17C>T
|
rs756465454
|
0.00002
|
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)
|
rs776384541
|
0.00002
|
NM_005476.7(GNE):c.2029C>T (p.His677Tyr)
|
rs527267621
|
0.00002
|
NM_005476.7(GNE):c.2061C>G (p.Ala687=)
|
rs765296741
|
0.00002
|
NM_005476.7(GNE):c.207C>T (p.Asn69=)
|
rs781586600
|
0.00002
|
NM_005476.7(GNE):c.297T>C (p.Leu99=)
|
rs544304534
|
0.00002
|
NM_005476.7(GNE):c.302G>A (p.Arg101His)
|
rs144727134
|
0.00002
|
NM_005476.7(GNE):c.32G>A (p.Arg11Gln)
|
rs1401082365
|
0.00002
|
NM_005476.7(GNE):c.447C>T (p.Ala149=)
|
rs772851707
|
0.00002
|
NM_005476.7(GNE):c.604C>T (p.Arg202Cys)
|
rs756309840
|
0.00002
|
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)
|
rs762106720
|
0.00002
|
NM_005476.7(GNE):c.903C>T (p.Ser301=)
|
rs777440792
|
0.00002
|
NM_001128227.3(GNE):c.12T>C (p.Tyr4=)
|
rs556904933
|
0.00001
|
NM_001128227.3(GNE):c.15T>C (p.Gly5=)
|
rs192260997
|
0.00001
|
NM_001128227.3(GNE):c.51+12G>A
|
rs374490097
|
0.00001
|
NM_001128227.3(GNE):c.51+18C>A
|
rs1370632267
|
0.00001
|
NM_001128227.3(GNE):c.52-9097C>T
|
rs886063929
|
0.00001
|
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)
|
rs767777879
|
0.00001
|
NM_005476.7(GNE):c.*1021A>G
|
rs10435799
|
0.00001
|
NM_005476.7(GNE):c.*2453C>A
|
rs1163596916
|
0.00001
|
NM_005476.7(GNE):c.*2550G>A
|
rs191345940
|
0.00001
|
NM_005476.7(GNE):c.*2709T>C
|
rs1390610132
|
0.00001
|
NM_005476.7(GNE):c.*513G>A
|
rs886063923
|
0.00001
|
NM_005476.7(GNE):c.1008T>C (p.Asp336=)
|
rs762803815
|
0.00001
|
NM_005476.7(GNE):c.1017C>A (p.Thr339=)
|
rs769534184
|
0.00001
|
NM_005476.7(GNE):c.1081T>C (p.Tyr361His)
|
rs1192630467
|
0.00001
|
NM_005476.7(GNE):c.1117T>G (p.Phe373Val)
|
rs794727868
|
0.00001
|
NM_005476.7(GNE):c.1131C>T (p.Ile377=)
|
rs764041731
|
0.00001
|
NM_005476.7(GNE):c.1250C>T (p.Thr417Met)
|
rs1554659711
|
0.00001
|
NM_005476.7(GNE):c.1251G>A (p.Thr417=)
|
rs758086020
|
0.00001
|
NM_005476.7(GNE):c.1258C>T (p.Arg420Ter)
|
rs747199032
|
0.00001
|
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln)
|
rs780092539
|
0.00001
|
NM_005476.7(GNE):c.1276A>C (p.Met426Leu)
|
rs750404513
|
0.00001
|
NM_005476.7(GNE):c.127G>A (p.Val43Ile)
|
rs1223454836
|
0.00001
|
NM_005476.7(GNE):c.1287A>G (p.Glu429=)
|
rs377382722
|
0.00001
|
NM_005476.7(GNE):c.1310T>C (p.Phe437Ser)
|
rs370478702
|
0.00001
|
NM_005476.7(GNE):c.1313A>T (p.Asn438Ile)
|
rs772723683
|
0.00001
|
NM_005476.7(GNE):c.1317T>C (p.Pro439=)
|
rs773336897
|
0.00001
|
NM_005476.7(GNE):c.1325A>G (p.Tyr442Cys)
|
rs1214437751
|
0.00001
|
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys)
|
rs1337925138
|
0.00001
|
NM_005476.7(GNE):c.1354A>G (p.Met452Val)
|
rs746051210
|
0.00001
|
NM_005476.7(GNE):c.1411+7T>C
|
rs1828696327
|
0.00001
|
NM_005476.7(GNE):c.1430G>A (p.Arg477His)
|
rs776109807
|
0.00001
|
NM_005476.7(GNE):c.1464A>G (p.Ser488=)
|
rs771209350
|
0.00001
|
NM_005476.7(GNE):c.1523T>C (p.Leu508Ser)
|
rs1057516798
|
0.00001
|
NM_005476.7(GNE):c.1525C>T (p.His509Tyr)
|
rs754892377
|
0.00001
|
NM_005476.7(GNE):c.1531C>T (p.Pro511Ser)
|
rs966918577
|
0.00001
|
NM_005476.7(GNE):c.1633+7G>A
|
rs773608353
|
0.00001
|
NM_005476.7(GNE):c.1633+8G>A
|
rs1028353184
|
0.00001
|
NM_005476.7(GNE):c.1634-8C>T
|
rs756876449
|
0.00001
|
NM_005476.7(GNE):c.1638C>T (p.Ile546=)
|
rs147768211
|
0.00001
|
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys)
|
rs1306768272
|
0.00001
|
NM_005476.7(GNE):c.165-8G>A
|
rs918998080
|
0.00001
|
NM_005476.7(GNE):c.1666T>C (p.Leu556=)
|
rs765440649
|
0.00001
|
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg)
|
rs762009737
|
0.00001
|
NM_005476.7(GNE):c.1709T>C (p.Leu570Pro)
|
rs775369694
|
0.00001
|
NM_005476.7(GNE):c.1716G>A (p.Val572=)
|
rs1294027346
|
0.00001
|
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu)
|
rs121908625
|
0.00001
|
NM_005476.7(GNE):c.1742G>T (p.Cys581Phe)
|
rs756926638
|
0.00001
|
NM_005476.7(GNE):c.1769A>G (p.Tyr590Cys)
|
rs1363913351
|
0.00001
|
NM_005476.7(GNE):c.1771G>A (p.Ala591Thr)
|
rs752286512
|
0.00001
|
NM_005476.7(GNE):c.1806G>A (p.Lys602=)
|
rs1248336263
|
0.00001
|
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe)
|
rs372732220
|
0.00001
|
NM_005476.7(GNE):c.1812T>C (p.His604=)
|
rs541458680
|
0.00001
|
NM_005476.7(GNE):c.1893G>A (p.Ala631=)
|
rs770928991
|
0.00001
|
NM_005476.7(GNE):c.1933+7A>T
|
rs368100600
|
0.00001
|
NM_005476.7(GNE):c.1933+8T>C
|
rs768321445
|
0.00001
|
NM_005476.7(GNE):c.1998C>T (p.Ile666=)
|
rs932366819
|
0.00001
|
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe)
|
rs1258671706
|
0.00001
|
NM_005476.7(GNE):c.2008G>T (p.Val670Phe)
|
rs746449874
|
0.00001
|
NM_005476.7(GNE):c.2023T>C (p.Tyr675His)
|
rs1191857860
|
0.00001
|
NM_005476.7(GNE):c.2043C>T (p.Asp681=)
|
rs568010488
|
0.00001
|
NM_005476.7(GNE):c.2070C>T (p.Ser690=)
|
rs776582567
|
0.00001
|
NM_005476.7(GNE):c.2071G>A (p.Val691Met)
|
rs763775540
|
0.00001
|
NM_005476.7(GNE):c.2073G>T (p.Val691=)
|
rs760445653
|
0.00001
|
NM_005476.7(GNE):c.2079C>T (p.Asp693=)
|
rs548244588
|
0.00001
|
NM_005476.7(GNE):c.2082G>C (p.Val694=)
|
rs771658438
|
0.00001
|
NM_005476.7(GNE):c.2096C>T (p.Ser699Leu)
|
rs552758282
|
0.00001
|
NM_005476.7(GNE):c.2097G>A (p.Ser699=)
|
rs200490682
|
0.00001
|
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr)
|
rs201216576
|
0.00001
|
NM_005476.7(GNE):c.2119C>T (p.Leu707=)
|
rs750554841
|
0.00001
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005476.7(GNE):c.2151A>G (p.Thr717=)
|
rs760226053
|
0.00001
|
NM_005476.7(GNE):c.240T>C (p.Asp80=)
|
rs780405231
|
0.00001
|
NM_005476.7(GNE):c.301C>T (p.Arg101Cys)
|
rs148523065
|
0.00001
|
NM_005476.7(GNE):c.39T>C (p.Cys13=)
|
rs776485443
|
0.00001
|
NM_005476.7(GNE):c.455A>C (p.Lys152Thr)
|
rs1157107103
|
0.00001
|
NM_005476.7(GNE):c.462T>A (p.Ala154=)
|
rs778963689
|
0.00001
|
NM_005476.7(GNE):c.466T>C (p.Tyr156His)
|
rs794727505
|
0.00001
|
NM_005476.7(GNE):c.471T>C (p.His157=)
|
rs757524235
|
0.00001
|
NM_005476.7(GNE):c.485G>A (p.Arg162His)
|
rs747640708
|
0.00001
|
NM_005476.7(GNE):c.526G>A (p.Asp176Asn)
|
rs774229314
|
0.00001
|
NM_005476.7(GNE):c.529C>T (p.Arg177Cys)
|
rs539332585
|
0.00001
|
NM_005476.7(GNE):c.530G>A (p.Arg177His)
|
rs772597073
|
0.00001
|
NM_005476.7(GNE):c.565C>T (p.Leu189Phe)
|
rs567208272
|
0.00001
|
NM_005476.7(GNE):c.572C>G (p.Ser191Ter)
|
rs1357906793
|
0.00001
|
NM_005476.7(GNE):c.594G>A (p.Met198Ile)
|
rs1587339231
|
0.00001
|
NM_005476.7(GNE):c.608T>C (p.Met203Thr)
|
rs767519361
|
0.00001
|
NM_005476.7(GNE):c.612G>A (p.Trp204Ter)
|
rs786204476
|
0.00001
|
NM_005476.7(GNE):c.616+13G>C
|
rs1383533734
|
0.00001
|
NM_005476.7(GNE):c.616+18T>C
|
rs906334550
|
0.00001
|
NM_005476.7(GNE):c.616+7A>G
|
rs761273110
|
0.00001
|
NM_005476.7(GNE):c.722T>G (p.Ile241Ser)
|
rs759945787
|
0.00001
|
NM_005476.7(GNE):c.736C>T (p.Arg246Trp)
|
rs773729410
|
0.00001
|
NM_005476.7(GNE):c.741C>T (p.Thr247=)
|
rs770081028
|
0.00001
|
NM_005476.7(GNE):c.766G>A (p.Ala256Thr)
|
rs375740268
|
0.00001
|
NM_005476.7(GNE):c.77C>G (p.Ala26Gly)
|
rs1266233810
|
0.00001
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
NM_005476.7(GNE):c.945G>A (p.Val315=)
|
rs371362663
|
0.00001
|
NM_005476.7(GNE):c.975A>G (p.Arg325=)
|
rs758966843
|
0.00001
|
NM_005476.7(GNE):c.999T>C (p.His333=)
|
rs1344485866
|
0.00001
|
GRCh37/hg19 9p13.3(chr9:36227245-36227455)
|
|
|
NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
|
|
|
NC_000009.11:g.(?_36217362)_(36276941_?)dup
|
|
|
NC_000009.11:g.(?_36227225)_(36276941_?)del
|
|
|
NC_000009.11:g.(?_36227235)_(36227465_?)del
|
|
|
NC_000009.11:g.(?_36229008)_(36236991_?)dup
|
|
|
NC_000009.11:g.(?_36229008)_(36249404_?)dup
|
|
|
NC_000009.11:g.(?_36246008)_(36276941_?)del
|
|
|
NC_000009.11:g.(?_36246018)_(36246489_?)del
|
|
|
NC_000009.11:g.(?_36246018)_(36249404_?)dup
|
|
|
NC_000009.11:g.(?_36276871)_(36277059_?)dup
|
|
|
NC_000009.11:g.(?_36276881)_(36277049_?)dup
|
|
|
NC_000009.12:g.(?_36227238)_(36227468_?)dup
|
|
|
NC_000009.12:g.(?_36276884)_(36277052_?)del
|
|
|
NM_001128227.2(GNE):c.-60_-59delAA
|
rs751222162
|
|
NM_001128227.2(GNE):c.-97T>G
|
rs757093701
|
|
NM_001128227.2(GNE):c.1376delG
|
rs1057516705
|
|
NM_001128227.3(GNE):c.18T>C (p.Tyr6=)
|
rs200763627
|
|
NM_001128227.3(GNE):c.22C>T (p.Gln8Ter)
|
|
|
NM_001128227.3(GNE):c.24G>A (p.Gln8=)
|
rs190315029
|
|
NM_001128227.3(GNE):c.26G>C (p.Arg9Thr)
|
|
|
NM_001128227.3(GNE):c.27G>A (p.Arg9=)
|
|
|
NM_001128227.3(GNE):c.30G>A (p.Glu10=)
|
rs780649483
|
|
NM_001128227.3(GNE):c.32C>T (p.Ser11Leu)
|
|
|
NM_001128227.3(GNE):c.36C>G (p.Cys12Trp)
|
rs2133208588
|
|
NM_001128227.3(GNE):c.39T>C (p.Phe13=)
|
rs2133208583
|
|
NM_001128227.3(GNE):c.3G>A (p.Met1Ile)
|
rs1554668704
|
|
NM_001128227.3(GNE):c.48T>A (p.Pro16=)
|
|
|
NM_001128227.3(GNE):c.4G>A (p.Glu2Lys)
|
rs1403279875
|
|
NM_001128227.3(GNE):c.50A>T (p.His17Leu)
|
rs2133208557
|
|
NM_001128227.3(GNE):c.51+10408_52-10008del
|
|
|
NM_001128227.3(GNE):c.51+10T>G
|
rs2133208536
|
|
NM_001128227.3(GNE):c.51+11C>T
|
|
|
NM_001128227.3(GNE):c.51+12G>C
|
|
|
NM_001128227.3(GNE):c.51+2T>A
|
|
|
NM_001128227.3(GNE):c.51+9T>C
|
rs2133208540
|
|
NM_001128227.3(GNE):c.52-9070C>T
|
rs886063928
|
|
NM_001128227.3(GNE):c.52G>A (p.Glu18Lys)
|
|
|
NM_001128227.3(GNE):c.55_62del (p.Glu18_Leu19insTer)
|
rs2133126724
|
|
NM_001128227.3(GNE):c.57C>G (p.Leu19=)
|
rs1830028025
|
|
NM_001128227.3(GNE):c.60T>C (p.Tyr20=)
|
rs2133126743
|
|
NM_001128227.3(GNE):c.69C>T (p.Asn23=)
|
rs1158058299
|
|
NM_001128227.3(GNE):c.72C>G (p.Leu24=)
|
rs1191809976
|
|
NM_001128227.3(GNE):c.75A>G (p.Ser25=)
|
|
|
NM_001128227.3(GNE):c.78A>G (p.Lys26=)
|
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128227.3(GNE):c.7del (p.Thr3fs)
|
rs1563966097
|
|
NM_001128227.3(GNE):c.82_83dup (p.Asn28fs)
|
rs1554664095
|
|
NM_001128227.3(GNE):c.86A>C (p.Lys29Thr)
|
|
|
NM_001128227.3(GNE):c.88C>A (p.Gln30Lys)
|
|
|
NM_001128227.3(GNE):c.88C>T (p.Gln30Ter)
|
rs1554664090
|
|
NM_001128227.3(GNE):c.91A>G (p.Ile31Val)
|
|
|
NM_005476.7(GNE):c.*1012CA[10]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[14]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[15]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[16]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1012CA[22]
|
rs10527967
|
|
NM_005476.7(GNE):c.*1127C>T
|
rs1828268117
|
|
NM_005476.7(GNE):c.*1694G>C
|
rs886063918
|
|
NM_005476.7(GNE):c.*1854C>T
|
rs1828233358
|
|
NM_005476.7(GNE):c.*2156G>C
|
rs2741725
|
|
NM_005476.7(GNE):c.*2185T>A
|
rs1828216707
|
|
NM_005476.7(GNE):c.*2196dup
|
rs199874473
|
|
NM_005476.7(GNE):c.*2410G>C
|
rs886063917
|
|
NM_005476.7(GNE):c.*277ATA[1]
|
rs140089561
|
|
NM_005476.7(GNE):c.*2905_*2906del
|
rs886063913
|
|
NM_005476.7(GNE):c.*292C>G
|
rs1335595008
|
|
NM_005476.7(GNE):c.*30C>G
|
rs540975887
|
|
NM_005476.7(GNE):c.*663A>G
|
rs1373838375
|
|
NM_005476.7(GNE):c.*690T>A
|
rs10972792
|
|
NM_005476.7(GNE):c.*692AAT[10]
|
rs113316798
|
|
NM_005476.7(GNE):c.*692AAT[12]
|
rs113316798
|
|
NM_005476.7(GNE):c.*692AAT[13]
|
rs113316798
|
|
NM_005476.7(GNE):c.*692AAT[9]
|
rs113316798
|
|
NM_005476.7(GNE):c.*693A>T
|
rs886063922
|
|
NM_005476.7(GNE):c.*694T>A
|
rs867926432
|
|
NM_005476.7(GNE):c.*702dup
|
rs886063921
|
|
NM_005476.7(GNE):c.*936C>T
|
rs56974443
|
|
NM_005476.7(GNE):c.*937G>A
|
rs191229205
|
|
NM_005476.7(GNE):c.*988G>C
|
rs916769105
|
|
NM_005476.7(GNE):c.-42-3C>T
|
rs764657091
|
|
NM_005476.7(GNE):c.-42-6T>C
|
|
|
NM_005476.7(GNE):c.1016C>T (p.Thr339Ile)
|
|
|
NM_005476.7(GNE):c.1017C>T (p.Thr339=)
|
rs769534184
|
|
NM_005476.7(GNE):c.1018C>T (p.Gln340Ter)
|
rs983424324
|
|
NM_005476.7(GNE):c.101C>G (p.Thr34Ser)
|
|
|
NM_005476.7(GNE):c.101C>T (p.Thr34Ile)
|
|
|
NM_005476.7(GNE):c.1020A>C (p.Gln340His)
|
rs747807631
|
|
NM_005476.7(GNE):c.1023C>T (p.Asp341=)
|
rs768446059
|
|
NM_005476.7(GNE):c.1026_1027del (p.Lys342fs)
|
|
|
NM_005476.7(GNE):c.1029A>G (p.Ile343Met)
|
rs1829027391
|
|
NM_005476.7(GNE):c.102C>A (p.Thr34=)
|
|
|
NM_005476.7(GNE):c.102C>T (p.Thr34=)
|
rs147290887
|
|
NM_005476.7(GNE):c.1031T>A (p.Leu344Ter)
|
|
|
NM_005476.7(GNE):c.1032G>A (p.Leu344=)
|
|
|
NM_005476.7(GNE):c.1033C>T (p.Gln345Ter)
|
rs1829027066
|
|
NM_005476.7(GNE):c.1038A>G (p.Ala346=)
|
|
|
NM_005476.7(GNE):c.1039C>T (p.Leu347=)
|
rs2133049484
|
|
NM_005476.7(GNE):c.1039_1042delinsA (p.Leu347_His348delinsAsn)
|
rs1554660095
|
|
NM_005476.7(GNE):c.1045_1046insAAACTGCACC (p.Leu349fs)
|
rs1829026390
|
|
NM_005476.7(GNE):c.1048C>T (p.Gln350Ter)
|
rs1276168825
|
|
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu)
|
rs1554660090
|
|
NM_005476.7(GNE):c.105A>G (p.Glu35=)
|
rs2133126073
|
|
NM_005476.7(GNE):c.1060C>T (p.Gln354Ter)
|
|
|
NM_005476.7(GNE):c.1070+2dup
|
rs886043636
|
|
NM_005476.7(GNE):c.1071-11del
|
|
|
NM_005476.7(GNE):c.1071-2A>C
|
|
|
NM_005476.7(GNE):c.1071-4G>T
|
rs567349676
|
|
NM_005476.7(GNE):c.1071-6T>C
|
|
|
NM_005476.7(GNE):c.1075A>C (p.Lys359Gln)
|
|
|
NM_005476.7(GNE):c.1075A>T (p.Lys359Ter)
|
rs1828929851
|
|
NM_005476.7(GNE):c.1078A>T (p.Ile360Leu)
|
|
|
NM_005476.7(GNE):c.107C>A (p.Pro36His)
|
|
|
NM_005476.7(GNE):c.1082A>T (p.Tyr361Phe)
|
|
|
NM_005476.7(GNE):c.1097C>A (p.Ala366Asp)
|
rs1442235130
|
|
NM_005476.7(GNE):c.1099G>A (p.Val367Ile)
|
rs1554659769
|
|
NM_005476.7(GNE):c.1111T>C (p.Leu371=)
|
rs1305905839
|
|
NM_005476.7(GNE):c.1112del (p.Ile370_Leu371insTer)
|
rs2133042191
|
|
NM_005476.7(GNE):c.1113G>A (p.Leu371=)
|
|
|
NM_005476.7(GNE):c.1113_1114delinsT (p.Leu371fs)
|
|
|
NM_005476.7(GNE):c.111G>A (p.Glu37=)
|
|
|
NM_005476.7(GNE):c.1124A>C (p.Lys375Thr)
|
rs1828924556
|
|
NM_005476.7(GNE):c.1126T>C (p.Ser376Pro)
|
rs1554659760
|
|
NM_005476.7(GNE):c.1127C>T (p.Ser376Phe)
|
|
|
NM_005476.7(GNE):c.112T>C (p.Phe38Leu)
|
|
|
NM_005476.7(GNE):c.1139_1140insTAGCCTATAATTTAACTTTGACAAAGTTATGAAATGGTTTTTCTAATACCTTTTTGAAAAAGTCATGGAGGCCATGGGGTTGGCTTGAAACCAGCTTTGGGGGGTTCGATTCCTTCCTTTTTTGTCTAGATTTTATGTATACGGGTTCTTCGAATGTGTGGTTCA (p.Gln380delinsHisSerLeuTer)
|
|
|
NM_005476.7(GNE):c.1146A>G (p.Pro382=)
|
|
|
NM_005476.7(GNE):c.1146A>T (p.Pro382=)
|
rs2133041945
|
|
NM_005476.7(GNE):c.1149G>A (p.Leu383=)
|
|
|
NM_005476.7(GNE):c.114C>G (p.Phe38Leu)
|
rs921673560
|
|
NM_005476.7(GNE):c.1153A>T (p.Lys385Ter)
|
rs1828921198
|
|
NM_005476.7(GNE):c.1155G>A (p.Lys385=)
|
|
|
NM_005476.7(GNE):c.1158A>T (p.Lys386Asn)
|
rs1828920194
|
|
NM_005476.7(GNE):c.1158del (p.Lys386fs)
|
rs1057516275
|
|
NM_005476.7(GNE):c.1162T>C (p.Cys388Arg)
|
rs2133041837
|
|
NM_005476.7(GNE):c.1165T>C (p.Phe389Leu)
|
|
|
NM_005476.7(GNE):c.1179G>A (p.Lys393=)
|
|
|
NM_005476.7(GNE):c.1185T>A (p.Asn395Lys)
|
|
|
NM_005476.7(GNE):c.118G>A (p.Glu40Lys)
|
|
|
NM_005476.7(GNE):c.1191T>G (p.Ser397=)
|
|
|
NM_005476.7(GNE):c.1200T>C (p.Ile400=)
|
rs1173945551
|
|
NM_005476.7(GNE):c.1220T>C (p.Leu407Pro)
|
|
|
NM_005476.7(GNE):c.1220dup (p.Ser408fs)
|
rs2133041569
|
|
NM_005476.7(GNE):c.1222del (p.Ser408fs)
|
|
|
NM_005476.7(GNE):c.1227C>G (p.Ala409=)
|
rs1828914515
|
|
NM_005476.7(GNE):c.1229T>A (p.Leu410Ter)
|
rs1828914261
|
|
NM_005476.7(GNE):c.1231G>C (p.Ala411Pro)
|
|
|
NM_005476.7(GNE):c.1233C>T (p.Ala411=)
|
rs1057523203
|
|
NM_005476.7(GNE):c.1236T>G (p.Val412=)
|
rs1587294795
|
|
NM_005476.7(GNE):c.1245C>A (p.Gly415=)
|
rs140784655
|
|
NM_005476.7(GNE):c.1262T>C (p.Val421Ala)
|
rs1057516364
|
|
NM_005476.7(GNE):c.1264G>A (p.Ala422Thr)
|
rs1828910974
|
|
NM_005476.7(GNE):c.1264G>C (p.Ala422Pro)
|
|
|
NM_005476.7(GNE):c.1266A>C (p.Ala422=)
|
rs2133041296
|
|
NM_005476.7(GNE):c.1268T>G (p.Ile423Arg)
|
rs1313840587
|
|
NM_005476.7(GNE):c.1269A>T (p.Ile423=)
|
rs1261239311
|
|
NM_005476.7(GNE):c.1276A>G (p.Met426Val)
|
rs750404513
|
|
NM_005476.7(GNE):c.1277T>C (p.Met426Thr)
|
|
|
NM_005476.7(GNE):c.1281+10C>T
|
|
|
NM_005476.7(GNE):c.1281+11T>G
|
|
|
NM_005476.7(GNE):c.1281+11del
|
|
|
NM_005476.7(GNE):c.1281+13C>A
|
rs1022557448
|
|
NM_005476.7(GNE):c.1281+13C>T
|
|
|
NM_005476.7(GNE):c.1281+15A>G
|
|
|
NM_005476.7(GNE):c.1281+18C>A
|
|
|
NM_005476.7(GNE):c.1281+18C>T
|
|
|
NM_005476.7(GNE):c.1281+8A>G
|
|
|
NM_005476.7(GNE):c.1281G>A (p.Lys427=)
|
rs1554659670
|
|
NM_005476.7(GNE):c.1282-14G>A
|
|
|
NM_005476.7(GNE):c.1282-14_1282-12del
|
|
|
NM_005476.7(GNE):c.1282-15_1282-14insGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-17_1282-16insGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-17_1282-16insGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-17_1282-16insGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18T>C
|
rs764072134
|
|
NM_005476.7(GNE):c.1282-18_1282-17insAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
rs778206973
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-18_1282-17insTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-19T>C
|
|
|
NM_005476.7(GNE):c.1282-3_1282-2insGTTGTTTTCTCTTTTTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-3_1282-2insGTTGTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTGGTTGTGGGGGTTGGGGCCCGGGGGGACTGGGGGACGGGGGGGAGCAATCTCGGGGAACGTCCTCGTACGGGTNNNNNNNNNNCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-7C>G
|
|
|
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAAGGAGTAAAGCAATGTGGCCCAGGCGGGCCTGCGGAGTGGATTTGGGCAAAAACGGCTCAAAGCAANNNNNNNNNNCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
|
|
|
NM_005476.7(GNE):c.1282-9C>G
|
|
|
NM_005476.7(GNE):c.1282G>A (p.Gly428Ser)
|
rs767409392
|
|
NM_005476.7(GNE):c.1285G>A (p.Glu429Lys)
|
rs1828703850
|
|
NM_005476.7(GNE):c.1294A>T (p.Lys432Ter)
|
rs1828703342
|
|
NM_005476.7(GNE):c.1301A>G (p.Tyr434Cys)
|
rs1447770049
|
|
NM_005476.7(GNE):c.1302T>C (p.Tyr434=)
|
rs886044498
|
|
NM_005476.7(GNE):c.1304C>T (p.Thr435Ile)
|
rs1563930778
|
|
NM_005476.7(GNE):c.1305del (p.Gln436fs)
|
|
|
NM_005476.7(GNE):c.1306C>T (p.Gln436Ter)
|
rs786204558
|
|
NM_005476.7(GNE):c.1308G>A (p.Gln436=)
|
rs2133024862
|
|
NM_005476.7(GNE):c.1311C>T (p.Phe437=)
|
rs1554659051
|
|
NM_005476.7(GNE):c.1312A>G (p.Asn438Asp)
|
rs2133024785
|
|
NM_005476.7(GNE):c.1323C>A (p.Thr441=)
|
rs2133024607
|
|
NM_005476.7(GNE):c.1323C>T (p.Thr441=)
|
|
|
NM_005476.7(GNE):c.1326T>C (p.Tyr442=)
|
|
|
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp)
|
rs1554659040
|
|
NM_005476.7(GNE):c.1350A>G (p.Leu450=)
|
|
|
NM_005476.7(GNE):c.135A>G (p.Val45=)
|
rs2133125932
|
|
NM_005476.7(GNE):c.1361T>C (p.Val454Ala)
|
rs2133024315
|
|
NM_005476.7(GNE):c.1362G>C (p.Val454=)
|
|
|
NM_005476.7(GNE):c.1365A>G (p.Glu455=)
|
rs2133024264
|
|
NM_005476.7(GNE):c.1369G>A (p.Ala457Thr)
|
rs2133024204
|
|
NM_005476.7(GNE):c.1377A>C (p.Glu459Asp)
|
|
|
NM_005476.7(GNE):c.1379C>T (p.Ala460Val)
|
rs121908631
|
|
NM_005476.7(GNE):c.1387C>G (p.Leu463Val)
|
|
|
NM_005476.7(GNE):c.1387C>T (p.Leu463=)
|
|
|
NM_005476.7(GNE):c.1411+10_1411+11del
|
rs2133023892
|
|
NM_005476.7(GNE):c.1411+13A>G
|
|
|
NM_005476.7(GNE):c.1411+1G>C
|
|
|
NM_005476.7(GNE):c.1411+1del
|
rs1057516597
|
|
NM_005476.7(GNE):c.1411+7T>G
|
|
|
NM_005476.7(GNE):c.1411G>A (p.Gly471Ser)
|
rs2133023974
|
|
NM_005476.7(GNE):c.1412-20G>C
|
rs751339818
|
|
NM_005476.7(GNE):c.1412G>A (p.Gly471Asp)
|
rs1439999698
|
|
NM_005476.7(GNE):c.1414A>G (p.Ile472Val)
|
|
|
NM_005476.7(GNE):c.1417del (p.Ser473fs)
|
rs1057516965
|
|
NM_005476.7(GNE):c.1419C>G (p.Ser473=)
|
rs2133022403
|
|
NM_005476.7(GNE):c.1426G>A (p.Gly476Ser)
|
rs2133022363
|
|
NM_005476.7(GNE):c.1427G>T (p.Gly476Val)
|
rs1828675355
|
|
NM_005476.7(GNE):c.1441C>T (p.Arg481Trp)
|
|
|
NM_005476.7(GNE):c.1447G>A (p.Gly483Arg)
|
rs2133022218
|
|
NM_005476.7(GNE):c.1460A>G (p.His487Arg)
|
|
|
NM_005476.7(GNE):c.1461T>C (p.His487=)
|
|
|
NM_005476.7(GNE):c.1466C>T (p.Thr489Ile)
|
|
|
NM_005476.7(GNE):c.1467C>T (p.Thr489=)
|
rs1235105944
|
|
NM_005476.7(GNE):c.1468A>T (p.Lys490Ter)
|
rs1554658955
|
|
NM_005476.7(GNE):c.1470A>G (p.Lys490=)
|
|
|
NM_005476.7(GNE):c.1471C>T (p.Leu491=)
|
|
|
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn)
|
rs1563930321
|
|
NM_005476.7(GNE):c.1476C>T (p.Ile492=)
|
|
|
NM_005476.7(GNE):c.1479A>C (p.Gln493His)
|
|
|
NM_005476.7(GNE):c.147C>T (p.His49=)
|
rs974552839
|
|
NM_005476.7(GNE):c.1482G>A (p.Glu494=)
|
rs1485580233
|
|
NM_005476.7(GNE):c.1488C>T (p.Asn496=)
|
|
|
NM_005476.7(GNE):c.1500T>A (p.Leu500=)
|
rs2133021961
|
|
NM_005476.7(GNE):c.1501_1529del (p.Arg501fs)
|
rs1554658924
|
|
NM_005476.7(GNE):c.1509C>A (p.Pro503=)
|
|
|
NM_005476.7(GNE):c.1510C>G (p.Leu504Val)
|
|
|
NM_005476.7(GNE):c.1510dup (p.Leu504fs)
|
rs1828669338
|
|
NM_005476.7(GNE):c.1520C>T (p.Thr507Ile)
|
|
|
NM_005476.7(GNE):c.1522T>C (p.Leu508=)
|
rs2133021847
|
|
NM_005476.7(GNE):c.1532C>T (p.Pro511Leu)
|
rs1414079876
|
|
NM_005476.7(GNE):c.1532_1533delinsAA (p.Pro511Gln)
|
rs1828666773
|
|
NM_005476.7(GNE):c.1534G>T (p.Val512Leu)
|
rs1279384333
|
|
NM_005476.7(GNE):c.1539G>A (p.Trp513Ter)
|
|
|
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
|
|
|
NM_005476.7(GNE):c.1543_1544del (p.Asp515fs)
|
rs1057516657
|
|
NM_005476.7(GNE):c.1546A>C (p.Asn516His)
|
rs1563930141
|
|
NM_005476.7(GNE):c.1546_1547del (p.Asp515_Asn516insTer)
|
rs1828665576
|
|
NM_005476.7(GNE):c.1556A>G (p.Asn519Ser)
|
rs1554658910
|
|
NM_005476.7(GNE):c.1563T>C (p.Ala521=)
|
rs2133021324
|
|
NM_005476.7(GNE):c.1564G>T (p.Ala522Ser)
|
rs2133021306
|
|
NM_005476.7(GNE):c.1565C>T (p.Ala522Val)
|
rs1563930123
|
|
NM_005476.7(GNE):c.1567C>A (p.Leu523Met)
|
rs1554658905
|
|
NM_005476.7(GNE):c.1567C>G (p.Leu523Val)
|
rs1554658905
|
|
NM_005476.7(GNE):c.1569G>C (p.Leu523=)
|
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
NM_005476.7(GNE):c.1572G>C (p.Ala524=)
|
|
|
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys)
|
rs986773986
|
|
NM_005476.7(GNE):c.1587C>T (p.Gly529=)
|
|
|
NM_005476.7(GNE):c.1590A>G (p.Gln530=)
|
rs2133021114
|
|
NM_005476.7(GNE):c.1594A>G (p.Lys532Glu)
|
|
|
NM_005476.7(GNE):c.159C>T (p.Asp53=)
|
rs1830018253
|
|
NM_005476.7(GNE):c.1600C>T (p.Leu534=)
|
|
|
NM_005476.7(GNE):c.1602G>A (p.Leu534=)
|
rs2133020974
|
|
NM_005476.7(GNE):c.1609T>C (p.Phe537Leu)
|
|
|
NM_005476.7(GNE):c.1609_1616del (p.Phe537fs)
|
rs1057516340
|
|
NM_005476.7(GNE):c.1613T>C (p.Val538Ala)
|
|
|
NM_005476.7(GNE):c.1614T>A (p.Val538=)
|
rs2133020873
|
|
NM_005476.7(GNE):c.162T>C (p.Tyr54=)
|
rs756575824
|
|
NM_005476.7(GNE):c.1632A>G (p.Thr544=)
|
rs2133020714
|
|
NM_005476.7(GNE):c.1633+10G>A
|
rs1332613836
|
|
NM_005476.7(GNE):c.1633+10G>T
|
rs1332613836
|
|
NM_005476.7(GNE):c.1633+12A>G
|
|
|
NM_005476.7(GNE):c.1633+12del
|
|
|
NM_005476.7(GNE):c.1633+14G>A
|
rs748208582
|
|
NM_005476.7(GNE):c.1633+15G>T
|
|
|
NM_005476.7(GNE):c.1633+17dup
|
|
|
NM_005476.7(GNE):c.1633+6_1633+7del
|
rs764024703
|
|
NM_005476.7(GNE):c.1633+7G>C
|
rs773608353
|
|
NM_005476.7(GNE):c.1633+8G>C
|
rs1028353184
|
|
NM_005476.7(GNE):c.1633G>A (p.Gly545Arg)
|
rs1024068004
|
|
NM_005476.7(GNE):c.1634-10C>T
|
|
|
NM_005476.7(GNE):c.1634-11C>T
|
|
|
NM_005476.7(GNE):c.1634-13T>G
|
|
|
NM_005476.7(GNE):c.1634-14A>G
|
|
|
NM_005476.7(GNE):c.1634-16C>T
|
|
|
NM_005476.7(GNE):c.1634-20A>T
|
|
|
NM_005476.7(GNE):c.1634-3T>C
|
rs2133007346
|
|
NM_005476.7(GNE):c.1634-4G>C
|
|
|
NM_005476.7(GNE):c.1634-6C>A
|
|
|
NM_005476.7(GNE):c.1634-7G>C
|
rs139442869
|
|
NM_005476.7(GNE):c.1638C>A (p.Ile546=)
|
rs147768211
|
|
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser)
|
rs1306768272
|
|
NM_005476.7(GNE):c.164+16T>C
|
|
|
NM_005476.7(GNE):c.164+19C>T
|
|
|
NM_005476.7(GNE):c.164+7T>C
|
|
|
NM_005476.7(GNE):c.164+8G>A
|
rs2133125796
|
|
NM_005476.7(GNE):c.1643del (p.Gly548fs)
|
rs2133007268
|
|
NM_005476.7(GNE):c.165-12C>G
|
|
|
NM_005476.7(GNE):c.165-12C>T
|
|
|
NM_005476.7(GNE):c.165-1del
|
|
|
NM_005476.7(GNE):c.165-5T>C
|
|
|
NM_005476.7(GNE):c.165-6C>G
|
rs2133114327
|
|
NM_005476.7(GNE):c.1655A>G (p.His552Arg)
|
|
|
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
|
|
|
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr)
|
rs886043979
|
|
NM_005476.7(GNE):c.1671C>T (p.Ile557=)
|
rs1587277726
|
|
NM_005476.7(GNE):c.1678A>C (p.Ser560Arg)
|
|
|
NM_005476.7(GNE):c.1684T>G (p.Phe562Val)
|
|
|
NM_005476.7(GNE):c.1686del (p.Cys563fs)
|
rs886044449
|
|
NM_005476.7(GNE):c.1689T>C (p.Cys563=)
|
rs768667610
|
|
NM_005476.7(GNE):c.1690del (p.Ala564fs)
|
rs2133007032
|
|
NM_005476.7(GNE):c.1692T>G (p.Ala564=)
|
rs1393386221
|
|
NM_005476.7(GNE):c.1703G>C (p.Gly568Ala)
|
rs1419793175
|
|
NM_005476.7(GNE):c.1708C>G (p.Leu570Val)
|
|
|
NM_005476.7(GNE):c.1710TGT[1] (p.Val572del)
|
rs762796465
|
|
NM_005476.7(GNE):c.1717T>A (p.Ser573Thr)
|
rs2133006773
|
|
NM_005476.7(GNE):c.171A>G (p.Thr57=)
|
|
|
NM_005476.7(GNE):c.172T>C (p.Tyr58His)
|
|
|
NM_005476.7(GNE):c.1730C>G (p.Pro577Arg)
|
rs1828512489
|
|
NM_005476.7(GNE):c.1730C>T (p.Pro577Leu)
|
rs1828512489
|
|
NM_005476.7(GNE):c.1732G>C (p.Asp578His)
|
|
|
NM_005476.7(GNE):c.1740del (p.Cys581fs)
|
rs1554658453
|
|
NM_005476.7(GNE):c.1749C>T (p.Ser583=)
|
|
|
NM_005476.7(GNE):c.174_177dup (p.Met60fs)
|
rs2133114222
|
|
NM_005476.7(GNE):c.1752T>C (p.His584=)
|
rs1368954364
|
|
NM_005476.7(GNE):c.1755G>C (p.Gly585=)
|
|
|
NM_005476.7(GNE):c.1759A>G (p.Ile587Val)
|
|
|
NM_005476.7(GNE):c.175C>A (p.Arg59=)
|
|
|
NM_005476.7(GNE):c.1762G>A (p.Glu588Lys)
|
rs2133006485
|
|
NM_005476.7(GNE):c.1767A>T (p.Ala589=)
|
|
|
NM_005476.7(GNE):c.176G>A (p.Arg59Gln)
|
rs1829880006
|
|
NM_005476.7(GNE):c.1770C>A (p.Tyr590Ter)
|
rs111302956
|
|
NM_005476.7(GNE):c.1775_1786del (p.Ser592_Ala595del)
|
rs1828507134
|
|
NM_005476.7(GNE):c.1781del (p.Met594fs)
|
rs1057517157
|
|
NM_005476.7(GNE):c.1787T>A (p.Leu596Ter)
|
|
|
NM_005476.7(GNE):c.1788G>A (p.Leu596=)
|
|
|
NM_005476.7(GNE):c.1789C>T (p.Gln597Ter)
|
rs2133006228
|
|
NM_005476.7(GNE):c.1791G>A (p.Gln597=)
|
rs1828506261
|
|
NM_005476.7(GNE):c.1792_1793dup (p.Glu599fs)
|
rs1436850036
|
|
NM_005476.7(GNE):c.1794G>A (p.Arg598=)
|
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
NM_005476.7(GNE):c.1804A>C (p.Lys602Gln)
|
rs2133006002
|
|
NM_005476.7(GNE):c.1816+11del
|
rs886063925
|
|
NM_005476.7(GNE):c.1816+15C>G
|
|
|
NM_005476.7(GNE):c.1816+18G>A
|
|
|
NM_005476.7(GNE):c.1816+3_1816+6del
|
rs1828502461
|
|
NM_005476.7(GNE):c.1816+4G>T
|
|
|
NM_005476.7(GNE):c.1816+5G>A
|
rs2133005844
|
|
NM_005476.7(GNE):c.1816+7G>A
|
|
|
NM_005476.7(GNE):c.1816+8T>G
|
|
|
NM_005476.7(GNE):c.1816+9C>A
|
|
|
NM_005476.7(GNE):c.1817-10C>T
|
rs2132997852
|
|
NM_005476.7(GNE):c.1817-11_1817-8del
|
rs769454562
|
|
NM_005476.7(GNE):c.1817-12C>G
|
|
|
NM_005476.7(GNE):c.1817-12C>T
|
|
|
NM_005476.7(GNE):c.1817-14C>T
|
|
|
NM_005476.7(GNE):c.1817-18C>A
|
|
|
NM_005476.7(GNE):c.1817-2A>G
|
|
|
NM_005476.7(GNE):c.1817-4T>G
|
|
|
NM_005476.7(GNE):c.1821C>T (p.Asp607=)
|
|
|
NM_005476.7(GNE):c.1828T>C (p.Leu610=)
|
rs2132997736
|
|
NM_005476.7(GNE):c.182_185del (p.Ile61fs)
|
|
|
NM_005476.7(GNE):c.1831G>A (p.Val611Met)
|
rs2132997717
|
|
NM_005476.7(GNE):c.1833G>A (p.Val611=)
|
rs2132997684
|
|
NM_005476.7(GNE):c.1839G>A (p.Gly613=)
|
rs2132997665
|
|
NM_005476.7(GNE):c.1857T>C (p.Asp619=)
|
rs1587273465
|
|
NM_005476.7(GNE):c.185A>C (p.Glu62Ala)
|
rs2133114144
|
|
NM_005476.7(GNE):c.1863T>C (p.Ala621=)
|
|
|
NM_005476.7(GNE):c.1868del (p.Gly623fs)
|
|
|
NM_005476.7(GNE):c.1872G>T (p.Ala624=)
|
|
|
NM_005476.7(GNE):c.1878T>C (p.His626=)
|
|
|
NM_005476.7(GNE):c.1881C>T (p.Leu627=)
|
|
|
NM_005476.7(GNE):c.1885C>T (p.Gln629Ter)
|
|
|
NM_005476.7(GNE):c.1897C>A (p.Leu633Ile)
|
|
|
NM_005476.7(GNE):c.190G>C (p.Asp64His)
|
rs2133114110
|
|
NM_005476.7(GNE):c.1915C>T (p.Gln639Ter)
|
rs886042195
|
|
NM_005476.7(GNE):c.1921A>G (p.Ile641Val)
|
rs2132996877
|
|
NM_005476.7(GNE):c.1926_1927insCGGCCCAGAGCATCCTA (p.Arg643_Thr644insProArgAlaSerTer)
|
|
|
NM_005476.7(GNE):c.192T>C (p.Asp64=)
|
rs2133114091
|
|
NM_005476.7(GNE):c.1933+11G>C
|
|
|
NM_005476.7(GNE):c.1933+12G>A
|
|
|
NM_005476.7(GNE):c.1933+13C>T
|
|
|
NM_005476.7(GNE):c.1933+19G>A
|
|
|
NM_005476.7(GNE):c.1933+1G>C
|
|
|
NM_005476.7(GNE):c.1933+7A>C
|
rs368100600
|
|
NM_005476.7(GNE):c.1933+7A>G
|
rs368100600
|
|
NM_005476.7(GNE):c.1933+8_1933+17dup
|
|
|
NM_005476.7(GNE):c.1934-10C>T
|
|
|
NM_005476.7(GNE):c.1934-11T>C
|
|
|
NM_005476.7(GNE):c.1934-11T>G
|
|
|
NM_005476.7(GNE):c.1934-12G>T
|
|
|
NM_005476.7(GNE):c.1934-17T>C
|
|
|
NM_005476.7(GNE):c.1934-4A>G
|
rs2132994193
|
|
NM_005476.7(GNE):c.1934-6C>T
|
|
|
NM_005476.7(GNE):c.1934-7C>T
|
rs1387525049
|
|
NM_005476.7(GNE):c.1934-8C>T
|
rs2132994218
|
|
NM_005476.7(GNE):c.1937G>C (p.Gly646Ala)
|
rs1291163446
|
|
NM_005476.7(GNE):c.1938A>T (p.Gly646=)
|
|
|
NM_005476.7(GNE):c.1945T>C (p.Leu649=)
|
rs1045540608
|
|
NM_005476.7(GNE):c.1949G>A (p.Gly650Asp)
|
rs1299435942
|
|
NM_005476.7(GNE):c.1956G>T (p.Gly652=)
|
|
|
NM_005476.7(GNE):c.1965C>T (p.Asn655=)
|
|
|
NM_005476.7(GNE):c.1968C>A (p.Ile656=)
|
|
|
NM_005476.7(GNE):c.1971C>A (p.Leu657=)
|
rs2132993854
|
|
NM_005476.7(GNE):c.1973del (p.His658fs)
|
|
|
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser)
|
rs765173992
|
|
NM_005476.7(GNE):c.1985C>T (p.Pro662Leu)
|
|
|
NM_005476.7(GNE):c.1989C>A (p.Ser663=)
|
rs2132993686
|
|
NM_005476.7(GNE):c.1989C>T (p.Ser663=)
|
rs2132993686
|
|
NM_005476.7(GNE):c.1990del (p.Leu664_Val665insTer)
|
|
|
NM_005476.7(GNE):c.2005_2011del (p.Gly669fs)
|
rs2132993345
|
|
NM_005476.7(GNE):c.2007A>T (p.Gly669=)
|
|
|
NM_005476.7(GNE):c.2024A>G (p.Tyr675Cys)
|
|
|
NM_005476.7(GNE):c.2025T>A (p.Tyr675Ter)
|
|
|
NM_005476.7(GNE):c.2025T>C (p.Tyr675=)
|
rs1479027996
|
|
NM_005476.7(GNE):c.2033T>C (p.Ile678Thr)
|
|
|
NM_005476.7(GNE):c.2038A>G (p.Lys680Glu)
|
|
|
NM_005476.7(GNE):c.204T>C (p.Ile68=)
|
|
|
NM_005476.7(GNE):c.2050C>A (p.Arg684Ser)
|
rs139347806
|
|
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys)
|
rs139347806
|
|
NM_005476.7(GNE):c.2051G>A (p.Arg684His)
|
|
|
NM_005476.7(GNE):c.2055G>A (p.Gln685=)
|
|
|
NM_005476.7(GNE):c.2061C>T (p.Ala687=)
|
|
|
NM_005476.7(GNE):c.2073G>A (p.Val691=)
|
rs760445653
|
|
NM_005476.7(GNE):c.2080G>A (p.Val694Met)
|
|
|
NM_005476.7(GNE):c.2085T>C (p.Asp695=)
|
rs2132992452
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)
|
rs121908627
|
|
NM_005476.7(GNE):c.2088GGT[1] (p.Val698del)
|
rs1554657956
|
|
NM_005476.7(GNE):c.208A>G (p.Thr70Ala)
|
|
|
NM_005476.7(GNE):c.2093T>C (p.Val698Ala)
|
rs1587270856
|
|
NM_005476.7(GNE):c.2095T>A (p.Ser699Thr)
|
rs1828371895
|
|
NM_005476.7(GNE):c.2097G>C (p.Ser699=)
|
rs200490682
|
|
NM_005476.7(GNE):c.2105T>A (p.Val702Asp)
|
|
|
NM_005476.7(GNE):c.2109C>A (p.Asp703Glu)
|
|
|
NM_005476.7(GNE):c.2118G>A (p.Leu706=)
|
rs1554657933
|
|
NM_005476.7(GNE):c.2118G>T (p.Leu706=)
|
|
|
NM_005476.7(GNE):c.211A>T (p.Arg71Trp)
|
rs886044539
|
|
NM_005476.7(GNE):c.2122G>A (p.Gly708Ser)
|
rs1554657922
|
|
NM_005476.7(GNE):c.2127T>C (p.Ala709=)
|
rs1282905700
|
|
NM_005476.7(GNE):c.2129C>T (p.Ala710Val)
|
|
|
NM_005476.7(GNE):c.2135del (p.Met712fs)
|
|
|
NM_005476.7(GNE):c.213G>A (p.Arg71=)
|
|
|
NM_005476.7(GNE):c.2142G>A (p.Leu714=)
|
|
|
NM_005476.7(GNE):c.2142G>T (p.Leu714=)
|
|
|
NM_005476.7(GNE):c.2150C>G (p.Thr717Arg)
|
|
|
NM_005476.7(GNE):c.2160G>A (p.Arg720=)
|
|
|
NM_005476.7(GNE):c.221_222del (p.Thr74fs)
|
rs2133113896
|
|
NM_005476.7(GNE):c.225_227del (p.Ile75_Val76delinsMet)
|
rs1156580753
|
|
NM_005476.7(GNE):c.22C>T (p.Arg8Ter)
|
rs766420673
|
|
NM_005476.7(GNE):c.238G>T (p.Asp80Tyr)
|
|
|
NM_005476.7(GNE):c.243G>A (p.Glu81=)
|
|
|
NM_005476.7(GNE):c.246A>G (p.Ala82=)
|
rs2133113710
|
|
NM_005476.7(GNE):c.247G>A (p.Ala83Thr)
|
rs1482972274
|
|
NM_005476.7(GNE):c.253G>A (p.Val85Met)
|
|
|
NM_005476.7(GNE):c.255G>A (p.Val85=)
|
rs2133113626
|
|
NM_005476.7(GNE):c.257A>C (p.Glu86Ala)
|
rs2133113605
|
|
NM_005476.7(GNE):c.265G>A (p.Gly89Ser)
|
rs1829875828
|
|
NM_005476.7(GNE):c.267C>G (p.Gly89=)
|
|
|
NM_005476.7(GNE):c.267C>T (p.Gly89=)
|
|
|
NM_005476.7(GNE):c.276A>C (p.Leu92=)
|
|
|
NM_005476.7(GNE):c.27G>C (p.Lys9Asn)
|
|
|
NM_005476.7(GNE):c.297T>G (p.Leu99=)
|
rs544304534
|
|
NM_005476.7(GNE):c.29T>C (p.Leu10Pro)
|
rs1830024227
|
|
NM_005476.7(GNE):c.2T>C (p.Met1Thr)
|
rs1554664086
|
|
NM_005476.7(GNE):c.303C>G (p.Arg101=)
|
|
|
NM_005476.7(GNE):c.315T>C (p.Asp105=)
|
rs886063927
|
|
NM_005476.7(GNE):c.31C>T (p.Arg11Trp)
|
rs769716748
|
|
NM_005476.7(GNE):c.323T>C (p.Ile108Thr)
|
rs2133113113
|
|
NM_005476.7(GNE):c.325G>A (p.Val109Ile)
|
rs2133113097
|
|
NM_005476.7(GNE):c.329A>G (p.His110Arg)
|
rs886043739
|
|
NM_005476.7(GNE):c.330T>C (p.His110=)
|
rs2133113028
|
|
NM_005476.7(GNE):c.348C>T (p.Ala116=)
|
|
|
NM_005476.7(GNE):c.350T>C (p.Leu117Pro)
|
|
|
NM_005476.7(GNE):c.363A>G (p.Thr121=)
|
|
|
NM_005476.7(GNE):c.366T>C (p.Ser122=)
|
rs1421322802
|
|
NM_005476.7(GNE):c.385C>G (p.Arg129Gly)
|
|
|
NM_005476.7(GNE):c.385C>T (p.Arg129Ter)
|
rs372872777
|
|
NM_005476.7(GNE):c.386G>A (p.Arg129Gln)
|
rs748704459
|
|
NM_005476.7(GNE):c.388del (p.Ile130fs)
|
rs1423445315
|
|
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
|
rs1209266607
|
|
NM_005476.7(GNE):c.392T>C (p.Leu131Pro)
|
|
|
NM_005476.7(GNE):c.397_398dup (p.Glu134fs)
|
rs1829869628
|
|
NM_005476.7(GNE):c.417T>C (p.Ser139=)
|
|
|
NM_005476.7(GNE):c.420G>A (p.Gly140=)
|
rs2133112706
|
|
NM_005476.7(GNE):c.425T>C (p.Ile142Thr)
|
rs1829868500
|
|
NM_005476.7(GNE):c.428A>G (p.Asp143Gly)
|
|
|
NM_005476.7(GNE):c.432C>T (p.Asp144=)
|
rs2133112638
|
|
NM_005476.7(GNE):c.435_438del (p.Ile146fs)
|
rs1057516915
|
|
NM_005476.7(GNE):c.436A>G (p.Ile146Val)
|
rs2133112591
|
|
NM_005476.7(GNE):c.43G>A (p.Ala15Thr)
|
rs2133126317
|
|
NM_005476.7(GNE):c.441A>G (p.Arg147=)
|
|
|
NM_005476.7(GNE):c.443A>G (p.His148Arg)
|
|
|
NM_005476.7(GNE):c.444T>C (p.His148=)
|
|
|
NM_005476.7(GNE):c.445G>T (p.Ala149Ser)
|
rs1563946658
|
|
NM_005476.7(GNE):c.448A>G (p.Ile150Val)
|
rs758814313
|
|
NM_005476.7(GNE):c.454_616+70delinsTAG
|
rs2133111012
|
|
NM_005476.7(GNE):c.467A>G (p.Tyr156Cys)
|
rs2133112366
|
|
NM_005476.7(GNE):c.469C>A (p.His157Asn)
|
rs1587339749
|
|
NM_005476.7(GNE):c.46A>G (p.Thr16Ala)
|
|
|
NM_005476.7(GNE):c.470_471del (p.His157fs)
|
rs1554663368
|
|
NM_005476.7(GNE):c.474G>A (p.Val158=)
|
|
|
NM_005476.7(GNE):c.474G>C (p.Val158=)
|
rs753803897
|
|
NM_005476.7(GNE):c.480C>T (p.Cys160=)
|
rs1360990295
|
|
NM_005476.7(GNE):c.484C>T (p.Arg162Cys)
|
rs769215411
|
|
NM_005476.7(GNE):c.489T>C (p.Ser163=)
|
|
|
NM_005476.7(GNE):c.495G>A (p.Glu165=)
|
rs2133112122
|
|
NM_005476.7(GNE):c.498G>C (p.Gln166His)
|
rs1829863461
|
|
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)
|
rs886044514
|
|
NM_005476.7(GNE):c.501C>A (p.His167Gln)
|
rs1554663342
|
|
NM_005476.7(GNE):c.511A>G (p.Met171Val)
|
rs121908634
|
|
NM_005476.7(GNE):c.512T>C (p.Met171Thr)
|
|
|
NM_005476.7(GNE):c.538T>C (p.Leu180=)
|
rs2133111925
|
|
NM_005476.7(GNE):c.540_553del (p.Leu180fs)
|
|
|
NM_005476.7(GNE):c.548G>C (p.Cys183Ser)
|
|
|
NM_005476.7(GNE):c.549C>T (p.Cys183=)
|
|
|
NM_005476.7(GNE):c.54C>T (p.Asn18=)
|
rs1406781067
|
|
NM_005476.7(GNE):c.556T>C (p.Tyr186His)
|
|
|
NM_005476.7(GNE):c.586G>C (p.Asp196His)
|
rs2133111701
|
|
NM_005476.7(GNE):c.588C>T (p.Asp196=)
|
|
|
NM_005476.7(GNE):c.591C>T (p.Tyr197=)
|
rs2133111680
|
|
NM_005476.7(GNE):c.597C>A (p.Ser199Arg)
|
|
|
NM_005476.7(GNE):c.597C>T (p.Ser199=)
|
|
|
NM_005476.7(GNE):c.5A>G (p.Glu2Gly)
|
rs1830025657
|
|
NM_005476.7(GNE):c.601_604dup (p.Arg202fs)
|
rs886042120
|
|
NM_005476.7(GNE):c.602T>A (p.Ile201Asn)
|
rs1829857314
|
|
NM_005476.7(GNE):c.605G>A (p.Arg202His)
|
|
|
NM_005476.7(GNE):c.605G>C (p.Arg202Pro)
|
|
|
NM_005476.7(GNE):c.607A>G (p.Met203Val)
|
rs1269845468
|
|
NM_005476.7(GNE):c.616+15C>A
|
rs1002961152
|
|
NM_005476.7(GNE):c.616+1del
|
rs1554663295
|
|
NM_005476.7(GNE):c.616+4C>T
|
|
|
NM_005476.7(GNE):c.616+5G>A
|
|
|
NM_005476.7(GNE):c.616G>A (p.Gly206Ser)
|
rs766266918
|
|
NM_005476.7(GNE):c.617-13T>C
|
rs1266835565
|
|
NM_005476.7(GNE):c.617-1G>A
|
rs1256419231
|
|
NM_005476.7(GNE):c.617-2A>G
|
rs1554661582
|
|
NM_005476.7(GNE):c.620ATG[1] (p.Asp208del)
|
rs1554661574
|
|
NM_005476.7(GNE):c.622G>A (p.Asp208Asn)
|
|
|
NM_005476.7(GNE):c.623A>C (p.Asp208Ala)
|
|
|
NM_005476.7(GNE):c.630dup (p.Ser211fs)
|
rs1554661569
|
|
NM_005476.7(GNE):c.636dup (p.Asp213fs)
|
rs1057517094
|
|
NM_005476.7(GNE):c.63T>C (p.Asp21=)
|
|
|
NM_005476.7(GNE):c.640del (p.Tyr214fs)
|
rs1554661561
|
|
NM_005476.7(GNE):c.642C>T (p.Tyr214=)
|
|
|
NM_005476.7(GNE):c.648T>G (p.Val216=)
|
rs375728173
|
|
NM_005476.7(GNE):c.654A>G (p.Leu218=)
|
|
|
NM_005476.7(GNE):c.655C>T (p.Gln219Ter)
|
rs1057516906
|
|
NM_005476.7(GNE):c.660C>T (p.His220=)
|
rs2133078408
|
|
NM_005476.7(GNE):c.669_675del (p.Thr224fs)
|
|
|
NM_005476.7(GNE):c.680dup (p.His228fs)
|
rs1554661552
|
|
NM_005476.7(GNE):c.681G>A (p.Lys227=)
|
rs201894560
|
|
NM_005476.7(GNE):c.694del (p.Met232fs)
|
rs1554661549
|
|
NM_005476.7(GNE):c.695T>C (p.Met232Thr)
|
rs761468890
|
|
NM_005476.7(GNE):c.6GAA[1] (p.Lys3del)
|
rs1554664082
|
|
NM_005476.7(GNE):c.709T>C (p.Leu237=)
|
rs2133078170
|
|
NM_005476.7(GNE):c.710T>C (p.Leu237Ser)
|
rs886043407
|
|
NM_005476.7(GNE):c.711G>A (p.Leu237=)
|
rs724159957
|
|
NM_005476.7(GNE):c.712del (p.Asp238fs)
|
|
|
NM_005476.7(GNE):c.721A>C (p.Ile241Leu)
|
rs763729254
|
|
NM_005476.7(GNE):c.723C>T (p.Ile241=)
|
|
|
NM_005476.7(GNE):c.723_727del (p.Ile241_Ser242insTer)
|
rs2133078032
|
|
NM_005476.7(GNE):c.734A>C (p.Lys245Thr)
|
|
|
NM_005476.7(GNE):c.737G>T (p.Arg246Leu)
|
rs121908629
|
|
NM_005476.7(GNE):c.73C>T (p.Leu25Phe)
|
rs373398528
|
|
NM_005476.7(GNE):c.748C>A (p.Leu250Met)
|
rs886042585
|
|
NM_005476.7(GNE):c.749T>A (p.Leu250Gln)
|
|
|
NM_005476.7(GNE):c.750G>A (p.Leu250=)
|
|
|
NM_005476.7(GNE):c.753T>C (p.Phe251=)
|
rs370479900
|
|
NM_005476.7(GNE):c.759T>C (p.Asn253=)
|
|
|
NM_005476.7(GNE):c.769+10C>T
|
|
|
NM_005476.7(GNE):c.769+19G>A
|
|
|
NM_005476.7(GNE):c.769+3dup
|
rs756817842
|
|
NM_005476.7(GNE):c.769+4A>G
|
rs886063926
|
|
NM_005476.7(GNE):c.769+7G>A
|
rs2133077826
|
|
NM_005476.7(GNE):c.76_77delinsTT (p.Ala26Phe)
|
|
|
NM_005476.7(GNE):c.770-20G>A
|
|
|
NM_005476.7(GNE):c.770-20G>T
|
|
|
NM_005476.7(GNE):c.770-8_770-3del
|
|
|
NM_005476.7(GNE):c.780G>A (p.Glu260=)
|
|
|
NM_005476.7(GNE):c.787C>T (p.Arg263Ter)
|
rs200643106
|
|
NM_005476.7(GNE):c.788G>A (p.Arg263Gln)
|
|
|
NM_005476.7(GNE):c.78C>G (p.Ala26=)
|
|
|
NM_005476.7(GNE):c.794T>C (p.Met265Thr)
|
rs2133068813
|
|
NM_005476.7(GNE):c.795G>T (p.Met265Ile)
|
rs1829295633
|
|
NM_005476.7(GNE):c.797G>A (p.Arg266Gln)
|
rs121908622
|
|
NM_005476.7(GNE):c.798G>A (p.Arg266=)
|
rs2133068760
|
|
NM_005476.7(GNE):c.798del (p.Lys267fs)
|
|
|
NM_005476.7(GNE):c.79C>T (p.Pro27Ser)
|
rs1554664064
|
|
NM_005476.7(GNE):c.807C>T (p.Gly269=)
|
|
|
NM_005476.7(GNE):c.811G>T (p.Glu271Ter)
|
rs1829294478
|
|
NM_005476.7(GNE):c.81G>A (p.Pro27=)
|
rs768397785
|
|
NM_005476.7(GNE):c.827T>G (p.Phe276Cys)
|
|
|
NM_005476.7(GNE):c.830G>A (p.Arg277His)
|
|
|
NM_005476.7(GNE):c.831T>C (p.Arg277=)
|
rs1367695782
|
|
NM_005476.7(GNE):c.840A>G (p.Lys280=)
|
|
|
NM_005476.7(GNE):c.844G>A (p.Val282Ile)
|
|
|
NM_005476.7(GNE):c.851T>C (p.Phe284Ser)
|
rs1563938450
|
|
NM_005476.7(GNE):c.856C>T (p.Gln286Ter)
|
rs1057516746
|
|
NM_005476.7(GNE):c.85A>G (p.Met29Val)
|
rs1830021401
|
|
NM_005476.7(GNE):c.862A>G (p.Ile288Val)
|
|
|
NM_005476.7(GNE):c.865C>T (p.Gln289Ter)
|
|
|
NM_005476.7(GNE):c.869T>A (p.Leu290Ter)
|
|
|
NM_005476.7(GNE):c.878A>G (p.His293Arg)
|
|
|
NM_005476.7(GNE):c.879T>C (p.His293=)
|
|
|
NM_005476.7(GNE):c.884G>C (p.Gly295Ala)
|
|
|
NM_005476.7(GNE):c.884G>T (p.Gly295Val)
|
|
|
NM_005476.7(GNE):c.887G>A (p.Cys296Tyr)
|
|
|
NM_005476.7(GNE):c.894T>C (p.Ile298=)
|
rs1277539567
|
|
NM_005476.7(GNE):c.907_908delinsGT (p.Cys303Val)
|
rs121908633
|
|
NM_005476.7(GNE):c.909T>A (p.Cys303Ter)
|
rs121908628
|
|
NM_005476.7(GNE):c.910G>A (p.Gly304Arg)
|
rs755743750
|
|
NM_005476.7(GNE):c.926dup (p.Ala310fs)
|
|
|
NM_005476.7(GNE):c.934G>A (p.Gly312Arg)
|
|
|
NM_005476.7(GNE):c.934_937del (p.Gly312fs)
|
|
|
NM_005476.7(GNE):c.942T>C (p.Pro314=)
|
rs2133068079
|
|
NM_005476.7(GNE):c.951C>T (p.Asn317=)
|
rs1456510873
|
|
NM_005476.7(GNE):c.952C>G (p.Leu318Val)
|
rs1554661032
|
|
NM_005476.7(GNE):c.952_953del (p.Leu318fs)
|
rs2133068002
|
|
NM_005476.7(GNE):c.955G>T (p.Gly319Ter)
|
rs1829284405
|
|
NM_005476.7(GNE):c.961C>T (p.Arg321Cys)
|
rs1554661030
|
|
NM_005476.7(GNE):c.965A>G (p.Gln322Arg)
|
rs2133067920
|
|
NM_005476.7(GNE):c.976G>A (p.Glu326Lys)
|
rs2133067896
|
|
NM_005476.7(GNE):c.982+13G>C
|
|
|
NM_005476.7(GNE):c.982+17A>G
|
|
|
NM_005476.7(GNE):c.982+19A>C
|
|
|
NM_005476.7(GNE):c.982+2T>A
|
rs2133067872
|
|
NM_005476.7(GNE):c.982+6T>C
|
rs2133067848
|
|
NM_005476.7(GNE):c.982+9C>T
|
rs1829282969
|
|
NM_005476.7(GNE):c.983-16C>T
|
|
|
NM_005476.7(GNE):c.983-7T>C
|
|
|
NM_005476.7(GNE):c.983-8T>G
|
|
|
NM_005476.7(GNE):c.984G>A (p.Gly328=)
|
rs2133049807
|
|
NM_005476.7(GNE):c.987G>A (p.Glu329=)
|
rs2133049764
|
|
NM_005476.7(GNE):c.992T>G (p.Val331Gly)
|
rs1554660119
|
|
NM_005476.7(GNE):c.994C>A (p.Leu332Ile)
|
rs2133049738
|
|
NM_005476.7(GNE):c.997dup (p.His333fs)
|
rs2133049724
|
|
NM_005476.7(GNE):c.9G>A (p.Lys3=)
|
rs2133126488
|
|
NM_005476.7(GNE):c.[2086G>A];[385C>T]
|
|
|