NM_030962.4(SBF2):c.*1364C>T
|
rs10118
|
0.63186
|
NM_030962.4(SBF2):c.4156-46C>T
|
rs11042500
|
0.43551
|
NM_030962.4(SBF2):c.*514C>T
|
rs3829252
|
0.33836
|
NM_030962.4(SBF2):c.*1515G>A
|
rs1045634
|
0.33744
|
NM_030962.4(SBF2):c.*40A>C
|
rs3751000
|
0.30738
|
NM_030962.4(SBF2):c.753-16T>A
|
rs7128234
|
0.18140
|
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu)
|
rs12574508
|
0.07978
|
NM_030962.4(SBF2):c.*1619A>C
|
rs360126
|
0.06256
|
NM_030962.4(SBF2):c.909C>T (p.Pro303=)
|
rs16907355
|
0.05858
|
NM_030962.4(SBF2):c.*1144A>G
|
rs3751001
|
0.04377
|
NM_030962.4(SBF2):c.3794-20C>T
|
rs116966215
|
0.02037
|
NM_030962.4(SBF2):c.513+17G>C
|
rs73410819
|
0.01551
|
NM_030962.4(SBF2):c.*1399T>C
|
rs60154961
|
0.01504
|
NM_030962.4(SBF2):c.*1413A>G
|
rs59613534
|
0.01502
|
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=)
|
rs79251068
|
0.01066
|
NM_030962.4(SBF2):c.*177A>C
|
rs192542785
|
0.00872
|
NM_030962.4(SBF2):c.*291C>T
|
rs114604750
|
0.00828
|
NM_030962.4(SBF2):c.*51T>C
|
rs41275194
|
0.00749
|
NM_030962.4(SBF2):c.*1315A>C
|
rs360125
|
0.00723
|
NM_030962.4(SBF2):c.1173A>G (p.Ala391=)
|
rs79470805
|
0.00687
|
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser)
|
rs115927577
|
0.00548
|
NM_030962.4(SBF2):c.-118G>T
|
rs563422015
|
0.00491
|
NM_030962.4(SBF2):c.645T>C (p.Phe215=)
|
rs148187321
|
0.00491
|
NM_030962.4(SBF2):c.*112G>A
|
rs144513995
|
0.00201
|
NM_030962.4(SBF2):c.777G>A (p.Pro259=)
|
rs142261202
|
0.00102
|
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu)
|
rs149501654
|
0.00074
|
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=)
|
rs77833016
|
0.00067
|
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg)
|
rs199894823
|
0.00059
|
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248
|
0.00059
|
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr)
|
rs149967939
|
0.00052
|
NM_030962.4(SBF2):c.*875G>A
|
rs886048776
|
0.00046
|
NM_030962.4(SBF2):c.4054A>G (p.Ser1352Gly)
|
rs201951073
|
0.00046
|
NM_030962.4(SBF2):c.*631T>C
|
rs573284772
|
0.00043
|
NM_030962.4(SBF2):c.*1439C>A
|
rs531522907
|
0.00042
|
NM_030962.4(SBF2):c.*1441C>T
|
rs562275980
|
0.00042
|
NM_030962.4(SBF2):c.4444-18T>G
|
rs143439179
|
0.00041
|
NM_030962.4(SBF2):c.291G>A (p.Lys97=)
|
rs150056369
|
0.00039
|
NM_030962.4(SBF2):c.705T>C (p.Ser235=)
|
rs143209062
|
0.00033
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=)
|
rs145351367
|
0.00030
|
NM_030962.4(SBF2):c.*480G>A
|
rs148002177
|
0.00029
|
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)
|
rs139217120
|
0.00029
|
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330
|
0.00029
|
NM_030962.4(SBF2):c.*963C>T
|
rs144512459
|
0.00028
|
NM_030962.4(SBF2):c.1623G>A (p.Thr541=)
|
rs184849947
|
0.00028
|
NM_030962.4(SBF2):c.513+18A>T
|
rs201201683
|
0.00027
|
NM_030962.4(SBF2):c.4515G>A (p.Val1505=)
|
rs144935862
|
0.00025
|
NM_030962.4(SBF2):c.56-8A>C
|
rs369979138
|
0.00021
|
NM_030962.4(SBF2):c.3652+18A>C
|
rs569103394
|
0.00020
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00020
|
NM_030962.4(SBF2):c.651A>G (p.Ala217=)
|
rs200293270
|
0.00019
|
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=)
|
rs191964053
|
0.00017
|
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=)
|
rs147597665
|
0.00016
|
NM_030962.4(SBF2):c.514-12C>T
|
rs770141264
|
0.00016
|
NM_030962.4(SBF2):c.-128C>T
|
rs886047579
|
0.00015
|
NM_030962.4(SBF2):c.1812C>T (p.Asp604=)
|
rs765658939
|
0.00015
|
NM_030962.4(SBF2):c.*608G>C
|
rs776490076
|
0.00014
|
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)
|
rs139967004
|
0.00014
|
NM_030962.4(SBF2):c.*1091G>A
|
rs182391972
|
0.00013
|
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp)
|
rs146366305
|
0.00012
|
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=)
|
rs142904756
|
0.00011
|
NM_030962.4(SBF2):c.*78G>C
|
rs184117822
|
0.00009
|
NM_030962.4(SBF2):c.1296+13T>C
|
rs376685939
|
0.00009
|
NM_030962.4(SBF2):c.280-5T>C
|
rs368118378
|
0.00009
|
NM_030962.4(SBF2):c.4076C>T (p.Ala1359Val)
|
rs368839717
|
0.00009
|
NM_030962.4(SBF2):c.5484C>T (p.Cys1828=)
|
rs149571145
|
0.00009
|
NM_030962.4(SBF2):c.5526C>A (p.Ile1842=)
|
rs376788960
|
0.00009
|
NM_030962.4(SBF2):c.4512T>C (p.Tyr1504=)
|
rs772156530
|
0.00008
|
NM_030962.4(SBF2):c.774C>A (p.Leu258=)
|
rs887509504
|
0.00008
|
NM_030962.4(SBF2):c.783G>T (p.Gln261His)
|
rs759932929
|
0.00008
|
NM_030962.4(SBF2):c.946C>T (p.Leu316=)
|
rs374841593
|
0.00008
|
NM_030962.4(SBF2):c.1436G>A (p.Arg479Gln)
|
rs775059182
|
0.00007
|
NM_030962.4(SBF2):c.1499G>A (p.Arg500Gln)
|
rs759084094
|
0.00007
|
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala)
|
rs761285334
|
0.00007
|
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln)
|
rs757836523
|
0.00007
|
NM_030962.4(SBF2):c.4257+6C>G
|
rs370274486
|
0.00007
|
NM_030962.4(SBF2):c.*1495T>C
|
rs929359339
|
0.00006
|
NM_030962.4(SBF2):c.*305A>G
|
rs905556733
|
0.00006
|
NM_030962.4(SBF2):c.3617T>C (p.Val1206Ala)
|
rs766573319
|
0.00006
|
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His)
|
rs201249004
|
0.00006
|
NM_030962.4(SBF2):c.3877A>G (p.Lys1293Glu)
|
rs200594508
|
0.00006
|
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala)
|
rs147350002
|
0.00006
|
NM_030962.4(SBF2):c.5469T>C (p.Arg1823=)
|
rs373457270
|
0.00006
|
NM_030962.4(SBF2):c.1210C>T (p.Leu404Phe)
|
rs764058215
|
0.00005
|
NM_030962.4(SBF2):c.3758C>T (p.Thr1253Ile)
|
rs368392902
|
0.00005
|
NM_030962.4(SBF2):c.4039C>T (p.Arg1347Trp)
|
rs750938785
|
0.00005
|
NM_030962.4(SBF2):c.4263A>G (p.Thr1421=)
|
rs368381654
|
0.00005
|
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe)
|
rs148988271
|
0.00005
|
NM_030962.4(SBF2):c.1015C>G (p.Pro339Ala)
|
rs1360970766
|
0.00004
|
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln)
|
rs188588431
|
0.00004
|
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
|
rs761285505
|
0.00004
|
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln)
|
rs878855130
|
0.00004
|
NM_030962.4(SBF2):c.1396-6T>C
|
rs369973804
|
0.00004
|
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln)
|
rs546485749
|
0.00004
|
NM_030962.4(SBF2):c.1569G>A (p.Lys523=)
|
rs776951161
|
0.00004
|
NM_030962.4(SBF2):c.1601-20T>C
|
rs200518136
|
0.00004
|
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=)
|
rs201514622
|
0.00004
|
NM_030962.4(SBF2):c.3845C>T (p.Ser1282Phe)
|
rs1442358051
|
0.00004
|
NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp)
|
rs145107442
|
0.00004
|
NM_030962.4(SBF2):c.4038C>G (p.Ile1346Met)
|
rs752638300
|
0.00004
|
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=)
|
rs766353139
|
0.00004
|
NM_030962.4(SBF2):c.4127C>T (p.Ala1376Val)
|
rs922840746
|
0.00004
|
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His)
|
rs770619905
|
0.00004
|
NM_030962.4(SBF2):c.5493T>C (p.Asp1831=)
|
rs779051883
|
0.00004
|
NM_030962.4(SBF2):c.798A>G (p.Leu266=)
|
rs138122773
|
0.00004
|
NM_030962.4(SBF2):c.810G>A (p.Thr270=)
|
rs769963369
|
0.00004
|
NM_030962.4(SBF2):c.1166A>G (p.Lys389Arg)
|
rs1490002752
|
0.00003
|
NM_030962.4(SBF2):c.1383A>G (p.Gln461=)
|
rs151036108
|
0.00003
|
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg)
|
rs746860317
|
0.00003
|
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala)
|
rs374114606
|
0.00003
|
NM_030962.4(SBF2):c.257A>G (p.Tyr86Cys)
|
rs745669920
|
0.00003
|
NM_030962.4(SBF2):c.258T>C (p.Tyr86=)
|
rs778681306
|
0.00003
|
NM_030962.4(SBF2):c.3540G>C (p.Leu1180=)
|
rs766137744
|
0.00003
|
NM_030962.4(SBF2):c.3708A>G (p.Gln1236=)
|
rs1371647333
|
0.00003
|
NM_030962.4(SBF2):c.403-15T>G
|
rs887143579
|
0.00003
|
NM_030962.4(SBF2):c.403-8T>C
|
rs755029382
|
0.00003
|
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=)
|
rs769205402
|
0.00003
|
NM_030962.4(SBF2):c.566A>G (p.His189Arg)
|
rs764000654
|
0.00003
|
NM_030962.4(SBF2):c.56G>T (p.Gly19Val)
|
rs375560902
|
0.00003
|
NM_030962.4(SBF2):c.600T>C (p.Ala200=)
|
rs770433606
|
0.00003
|
NM_030962.4(SBF2):c.832T>A (p.Ser278Thr)
|
rs746749228
|
0.00003
|
NM_030962.4(SBF2):c.898A>G (p.Ile300Val)
|
rs141669540
|
0.00003
|
NM_030962.4(SBF2):c.93T>C (p.Phe31=)
|
rs200263159
|
0.00003
|
NM_030962.4(SBF2):c.984C>T (p.His328=)
|
rs367717680
|
0.00003
|
NM_030962.4(SBF2):c.993G>A (p.Leu331=)
|
rs766193938
|
0.00003
|
NM_030962.4(SBF2):c.1072G>A (p.Val358Ile)
|
rs1372841015
|
0.00002
|
NM_030962.4(SBF2):c.1130T>C (p.Ile377Thr)
|
rs371432409
|
0.00002
|
NM_030962.4(SBF2):c.1164C>T (p.His388=)
|
rs959559753
|
0.00002
|
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu)
|
rs765958389
|
0.00002
|
NM_030962.4(SBF2):c.1368G>A (p.Arg456=)
|
rs772525525
|
0.00002
|
NM_030962.4(SBF2):c.142-11A>G
|
rs539146891
|
0.00002
|
NM_030962.4(SBF2):c.3533A>G (p.Asn1178Ser)
|
rs1310790545
|
0.00002
|
NM_030962.4(SBF2):c.3536G>A (p.Arg1179His)
|
rs751750978
|
0.00002
|
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr)
|
rs753626252
|
0.00002
|
NM_030962.4(SBF2):c.3744C>G (p.Leu1248=)
|
rs752703631
|
0.00002
|
NM_030962.4(SBF2):c.3818G>A (p.Ser1273Asn)
|
rs774935915
|
0.00002
|
NM_030962.4(SBF2):c.3858T>C (p.Val1286=)
|
rs768590614
|
0.00002
|
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln)
|
rs768571931
|
0.00002
|
NM_030962.4(SBF2):c.3978+7T>C
|
rs1416833371
|
0.00002
|
NM_030962.4(SBF2):c.402+15G>A
|
rs780717348
|
0.00002
|
NM_030962.4(SBF2):c.409C>T (p.Leu137=)
|
rs200954150
|
0.00002
|
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu)
|
rs762165359
|
0.00002
|
NM_030962.4(SBF2):c.4570+18C>T
|
rs754163697
|
0.00002
|
NM_030962.4(SBF2):c.5452-18T>C
|
rs774923587
|
0.00002
|
NM_030962.4(SBF2):c.5468G>A (p.Arg1823His)
|
rs369992460
|
0.00002
|
NM_030962.4(SBF2):c.5546C>T (p.Ala1849Val)
|
rs1048725630
|
0.00002
|
NM_030962.4(SBF2):c.580A>C (p.Ile194Leu)
|
rs746246566
|
0.00002
|
NM_030962.4(SBF2):c.*1255G>A
|
rs886048774
|
0.00001
|
NM_030962.4(SBF2):c.*1405T>C
|
rs997066238
|
0.00001
|
NM_030962.4(SBF2):c.*1686G>A
|
rs376521838
|
0.00001
|
NM_030962.4(SBF2):c.*19G>A
|
rs770446132
|
0.00001
|
NM_030962.4(SBF2):c.*418T>C
|
rs985803879
|
0.00001
|
NM_030962.4(SBF2):c.*730G>A
|
rs886048777
|
0.00001
|
NM_030962.4(SBF2):c.*731T>A
|
rs1239478451
|
0.00001
|
NM_030962.4(SBF2):c.1024C>T (p.Arg342Ter)
|
rs1565106242
|
0.00001
|
NM_030962.4(SBF2):c.1025G>A (p.Arg342Gln)
|
rs954771068
|
0.00001
|
NM_030962.4(SBF2):c.1050G>A (p.Met350Ile)
|
rs1947549366
|
0.00001
|
NM_030962.4(SBF2):c.1053+8G>A
|
rs779888479
|
0.00001
|
NM_030962.4(SBF2):c.1061A>C (p.Glu354Ala)
|
rs761829741
|
0.00001
|
NM_030962.4(SBF2):c.1062G>A (p.Glu354=)
|
rs376956314
|
0.00001
|
NM_030962.4(SBF2):c.1066C>T (p.Arg356Ter)
|
rs1032796987
|
0.00001
|
NM_030962.4(SBF2):c.1071C>T (p.Ala357=)
|
rs775272908
|
0.00001
|
NM_030962.4(SBF2):c.1083A>G (p.Arg361=)
|
rs1362168505
|
0.00001
|
NM_030962.4(SBF2):c.109G>C (p.Asp37His)
|
rs759977048
|
0.00001
|
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg)
|
rs770153492
|
0.00001
|
NM_030962.4(SBF2):c.1158T>G (p.His386Gln)
|
rs780071398
|
0.00001
|
NM_030962.4(SBF2):c.1163A>G (p.His388Arg)
|
rs1397329019
|
0.00001
|
NM_030962.4(SBF2):c.1167+20T>C
|
rs1947507309
|
0.00001
|
NM_030962.4(SBF2):c.1168-10T>C
|
rs769153339
|
0.00001
|
NM_030962.4(SBF2):c.118C>T (p.Pro40Ser)
|
rs1194397200
|
0.00001
|
NM_030962.4(SBF2):c.1222C>T (p.Leu408Phe)
|
rs1220835376
|
0.00001
|
NM_030962.4(SBF2):c.1226G>T (p.Ser409Ile)
|
rs1183650459
|
0.00001
|
NM_030962.4(SBF2):c.1236A>G (p.Ala412=)
|
rs1947481198
|
0.00001
|
NM_030962.4(SBF2):c.1244G>T (p.Gly415Val)
|
rs996602317
|
0.00001
|
NM_030962.4(SBF2):c.1277C>A (p.Ser426Tyr)
|
rs759009170
|
0.00001
|
NM_030962.4(SBF2):c.1296+12A>G
|
rs762099135
|
0.00001
|
NM_030962.4(SBF2):c.1296+7C>T
|
rs774033750
|
0.00001
|
NM_030962.4(SBF2):c.1297-13T>C
|
rs777737213
|
0.00001
|
NM_030962.4(SBF2):c.1316A>T (p.Glu439Val)
|
rs754505342
|
0.00001
|
NM_030962.4(SBF2):c.1337A>G (p.Asn446Ser)
|
rs762615474
|
0.00001
|
NM_030962.4(SBF2):c.1345G>C (p.Val449Leu)
|
rs1441833591
|
0.00001
|
NM_030962.4(SBF2):c.1386A>G (p.Leu462=)
|
rs774591496
|
0.00001
|
NM_030962.4(SBF2):c.141+5G>A
|
rs1284700305
|
0.00001
|
NM_030962.4(SBF2):c.141+9T>A
|
rs760322801
|
0.00001
|
NM_030962.4(SBF2):c.142-20T>G
|
rs748235053
|
0.00001
|
NM_030962.4(SBF2):c.1460G>A (p.Arg487Gln)
|
rs538390886
|
0.00001
|
NM_030962.4(SBF2):c.1563A>G (p.Ile521Met)
|
rs770392081
|
0.00001
|
NM_030962.4(SBF2):c.1582C>G (p.Pro528Ala)
|
rs745328047
|
0.00001
|
NM_030962.4(SBF2):c.1584A>G (p.Pro528=)
|
rs778311686
|
0.00001
|
NM_030962.4(SBF2):c.1593A>G (p.Pro531=)
|
rs1245602198
|
0.00001
|
NM_030962.4(SBF2):c.1594C>T (p.Pro532Ser)
|
rs1001858508
|
0.00001
|
NM_030962.4(SBF2):c.1598T>C (p.Val533Ala)
|
rs756897983
|
0.00001
|
NM_030962.4(SBF2):c.1604C>T (p.Ser535Leu)
|
rs542028180
|
0.00001
|
NM_030962.4(SBF2):c.1610T>C (p.Met537Thr)
|
rs1278738726
|
0.00001
|
NM_030962.4(SBF2):c.1635C>T (p.Asn545=)
|
rs1160157353
|
0.00001
|
NM_030962.4(SBF2):c.1653A>G (p.Glu551=)
|
rs942849510
|
0.00001
|
NM_030962.4(SBF2):c.1725A>C (p.Ala575=)
|
rs144514407
|
0.00001
|
NM_030962.4(SBF2):c.1770T>C (p.Asp590=)
|
rs149269991
|
0.00001
|
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln)
|
rs185968327
|
0.00001
|
NM_030962.4(SBF2):c.1815T>C (p.His605=)
|
rs1388471263
|
0.00001
|
NM_030962.4(SBF2):c.1839G>A (p.Arg613=)
|
rs776414901
|
0.00001
|
NM_030962.4(SBF2):c.1847A>G (p.Asn616Ser)
|
rs1043801815
|
0.00001
|
NM_030962.4(SBF2):c.1852A>G (p.Thr618Ala)
|
rs779355592
|
0.00001
|
NM_030962.4(SBF2):c.1854T>G (p.Thr618=)
|
rs1224103000
|
0.00001
|
NM_030962.4(SBF2):c.1860+12T>C
|
rs375954445
|
0.00001
|
NM_030962.4(SBF2):c.192G>A (p.Thr64=)
|
rs763363470
|
0.00001
|
NM_030962.4(SBF2):c.230G>A (p.Arg77Gln)
|
rs747102118
|
0.00001
|
NM_030962.4(SBF2):c.318G>A (p.Val106=)
|
rs757678568
|
0.00001
|
NM_030962.4(SBF2):c.3466C>T (p.Leu1156Phe)
|
rs1433995523
|
0.00001
|
NM_030962.4(SBF2):c.3474C>T (p.Val1158=)
|
rs376295625
|
0.00001
|
NM_030962.4(SBF2):c.350C>G (p.Ala117Gly)
|
rs767514383
|
0.00001
|
NM_030962.4(SBF2):c.3517C>T (p.Arg1173Cys)
|
rs779290368
|
0.00001
|
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His)
|
rs757577170
|
0.00001
|
NM_030962.4(SBF2):c.3526C>T (p.Arg1176Ter)
|
rs774667470
|
0.00001
|
NM_030962.4(SBF2):c.3527G>A (p.Arg1176Gln)
|
rs185264589
|
0.00001
|
NM_030962.4(SBF2):c.354C>T (p.Pro118=)
|
rs371771984
|
0.00001
|
NM_030962.4(SBF2):c.3565A>G (p.Arg1189Gly)
|
rs769777008
|
0.00001
|
NM_030962.4(SBF2):c.3598T>C (p.Phe1200Leu)
|
rs749729139
|
0.00001
|
NM_030962.4(SBF2):c.3615C>T (p.Val1205=)
|
rs751734412
|
0.00001
|
NM_030962.4(SBF2):c.3651C>T (p.Ala1217=)
|
rs550913752
|
0.00001
|
NM_030962.4(SBF2):c.3652+15A>G
|
rs367955902
|
0.00001
|
NM_030962.4(SBF2):c.3652G>A (p.Ala1218Thr)
|
rs763594624
|
0.00001
|
NM_030962.4(SBF2):c.3653-1G>A
|
rs145183196
|
0.00001
|
NM_030962.4(SBF2):c.3658A>G (p.Thr1220Ala)
|
rs753811515
|
0.00001
|
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser)
|
rs760210827
|
0.00001
|
NM_030962.4(SBF2):c.3679A>G (p.Ser1227Gly)
|
rs368618956
|
0.00001
|
NM_030962.4(SBF2):c.3680G>C (p.Ser1227Thr)
|
rs1261598853
|
0.00001
|
NM_030962.4(SBF2):c.3686T>C (p.Ile1229Thr)
|
rs1443759629
|
0.00001
|
NM_030962.4(SBF2):c.3731T>C (p.Val1244Ala)
|
rs757063919
|
0.00001
|
NM_030962.4(SBF2):c.3762T>G (p.Leu1254=)
|
rs776896848
|
0.00001
|
NM_030962.4(SBF2):c.3770G>A (p.Arg1257Lys)
|
rs775982886
|
0.00001
|
NM_030962.4(SBF2):c.3794-19G>A
|
rs779377326
|
0.00001
|
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys)
|
rs765001700
|
0.00001
|
NM_030962.4(SBF2):c.3814T>A (p.Ser1272Thr)
|
rs760386811
|
0.00001
|
NM_030962.4(SBF2):c.3823C>T (p.Arg1275Cys)
|
rs956737183
|
0.00001
|
NM_030962.4(SBF2):c.3876C>A (p.Gly1292=)
|
rs778401534
|
0.00001
|
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu)
|
rs767811228
|
0.00001
|
NM_030962.4(SBF2):c.3931A>G (p.Lys1311Glu)
|
rs200167746
|
0.00001
|
NM_030962.4(SBF2):c.3968C>T (p.Ser1323Leu)
|
rs369288449
|
0.00001
|
NM_030962.4(SBF2):c.3979-20C>A
|
rs1176068872
|
0.00001
|
NM_030962.4(SBF2):c.402+5A>G
|
rs1060503800
|
0.00001
|
NM_030962.4(SBF2):c.4051G>A (p.Ala1351Thr)
|
rs527347035
|
0.00001
|
NM_030962.4(SBF2):c.4102G>A (p.Asp1368Asn)
|
rs144063037
|
0.00001
|
NM_030962.4(SBF2):c.4113G>A (p.Val1371=)
|
rs1195911510
|
0.00001
|
NM_030962.4(SBF2):c.4118T>A (p.Phe1373Tyr)
|
rs753564262
|
0.00001
|
NM_030962.4(SBF2):c.4119C>T (p.Phe1373=)
|
rs772473795
|
0.00001
|
NM_030962.4(SBF2):c.4120C>G (p.Leu1374Val)
|
rs746286799
|
0.00001
|
NM_030962.4(SBF2):c.4123A>G (p.Lys1375Glu)
|
rs1217139040
|
0.00001
|
NM_030962.4(SBF2):c.4138T>A (p.Ser1380Thr)
|
rs1564876099
|
0.00001
|
NM_030962.4(SBF2):c.413G>C (p.Gly138Ala)
|
rs1949191748
|
0.00001
|
NM_030962.4(SBF2):c.4156-12C>G
|
rs779854941
|
0.00001
|
NM_030962.4(SBF2):c.4156-15C>T
|
rs746693765
|
0.00001
|
NM_030962.4(SBF2):c.4156-5C>G
|
rs966658773
|
0.00001
|
NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val)
|
rs771436343
|
0.00001
|
NM_030962.4(SBF2):c.4180G>C (p.Val1394Leu)
|
rs142029000
|
0.00001
|
NM_030962.4(SBF2):c.4186G>A (p.Val1396Ile)
|
rs751799091
|
0.00001
|
NM_030962.4(SBF2):c.4204A>C (p.Asn1402His)
|
rs1590132478
|
0.00001
|
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr)
|
rs370601742
|
0.00001
|
NM_030962.4(SBF2):c.4258-4C>G
|
rs757097139
|
0.00001
|
NM_030962.4(SBF2):c.4266C>T (p.Ser1422=)
|
rs763445946
|
0.00001
|
NM_030962.4(SBF2):c.427G>A (p.Val143Met)
|
rs142469360
|
0.00001
|
NM_030962.4(SBF2):c.4288C>T (p.Pro1430Ser)
|
rs1312716983
|
0.00001
|
NM_030962.4(SBF2):c.4335G>A (p.Glu1445=)
|
rs1370306059
|
0.00001
|
NM_030962.4(SBF2):c.4373G>A (p.Ser1458Asn)
|
rs1343934459
|
0.00001
|
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=)
|
rs1347990916
|
0.00001
|
NM_030962.4(SBF2):c.4443+20G>A
|
rs370632930
|
0.00001
|
NM_030962.4(SBF2):c.4443+6T>C
|
rs1450773584
|
0.00001
|
NM_030962.4(SBF2):c.444del (p.Asn149fs)
|
rs1295003959
|
0.00001
|
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser)
|
rs1590103742
|
0.00001
|
NM_030962.4(SBF2):c.446A>G (p.Asn149Ser)
|
rs1337725457
|
0.00001
|
NM_030962.4(SBF2):c.4509C>T (p.His1503=)
|
rs138816399
|
0.00001
|
NM_030962.4(SBF2):c.4570+11G>A
|
rs370065558
|
0.00001
|
NM_030962.4(SBF2):c.474C>G (p.Asn158Lys)
|
rs745535685
|
0.00001
|
NM_030962.4(SBF2):c.504A>T (p.Gly168=)
|
rs781537575
|
0.00001
|
NM_030962.4(SBF2):c.5452-14A>G
|
rs745519807
|
0.00001
|
NM_030962.4(SBF2):c.5452-5T>C
|
rs773935983
|
0.00001
|
NM_030962.4(SBF2):c.546G>T (p.Gln182His)
|
rs886047534
|
0.00001
|
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr)
|
rs146064484
|
0.00001
|
NM_030962.4(SBF2):c.5485G>A (p.Ala1829Thr)
|
rs750660963
|
0.00001
|
NM_030962.4(SBF2):c.586G>A (p.Gly196Ser)
|
rs150725040
|
0.00001
|
NM_030962.4(SBF2):c.620-9T>C
|
rs199676895
|
0.00001
|
NM_030962.4(SBF2):c.64G>A (p.Glu22Lys)
|
rs749815764
|
0.00001
|
NM_030962.4(SBF2):c.670G>A (p.Val224Ile)
|
rs1209039793
|
0.00001
|
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly)
|
rs1441387053
|
0.00001
|
NM_030962.4(SBF2):c.72G>T (p.Leu24=)
|
rs1352614927
|
0.00001
|
NM_030962.4(SBF2):c.756T>C (p.Tyr252=)
|
rs764753779
|
0.00001
|
NM_030962.4(SBF2):c.761A>G (p.Tyr254Cys)
|
rs1947932613
|
0.00001
|
NM_030962.4(SBF2):c.763A>G (p.Ile255Val)
|
rs1259744769
|
0.00001
|
NM_030962.4(SBF2):c.769A>G (p.Ile257Val)
|
rs756866661
|
0.00001
|
NM_030962.4(SBF2):c.78A>G (p.Lys26=)
|
rs781552767
|
0.00001
|
NM_030962.4(SBF2):c.808A>G (p.Thr270Ala)
|
rs1194829190
|
0.00001
|
NM_030962.4(SBF2):c.811C>A (p.Pro271Thr)
|
rs1044734721
|
0.00001
|
NM_030962.4(SBF2):c.812C>G (p.Pro271Arg)
|
rs1223197381
|
0.00001
|
NM_030962.4(SBF2):c.822T>C (p.Ile274=)
|
rs776897720
|
0.00001
|
NM_030962.4(SBF2):c.830A>C (p.His277Pro)
|
rs1284766357
|
0.00001
|
NM_030962.4(SBF2):c.854A>G (p.His285Arg)
|
rs146971151
|
0.00001
|
NM_030962.4(SBF2):c.861+7A>G
|
rs546454057
|
0.00001
|
NM_030962.4(SBF2):c.869T>G (p.Val290Gly)
|
rs771827174
|
0.00001
|
NM_030962.4(SBF2):c.87G>C (p.Gln29His)
|
rs751336040
|
0.00001
|
NM_030962.4(SBF2):c.90A>G (p.Arg30=)
|
rs551470384
|
0.00001
|
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg)
|
rs758820956
|
0.00001
|
NM_030962.4(SBF2):c.925T>G (p.Ser309Ala)
|
rs1300253311
|
0.00001
|
NM_030962.4(SBF2):c.936A>G (p.Pro312=)
|
rs765770300
|
0.00001
|
NM_030962.4(SBF2):c.942A>G (p.Pro314=)
|
rs753903194
|
0.00001
|
NC_000011.10:g.(?_10193902)_(10193987_?)del
|
|
|
NC_000011.10:g.(?_10294005)_(10294079_?)dup
|
|
|
NC_000011.10:g.(?_9807990)_(9858406_?)del
|
|
|
NC_000011.9:g.(?_10215443)_(10215540_?)del
|
|
|
NC_000011.9:g.(?_9801955)_(10064538_?)dup
|
|
|
NC_000011.9:g.(?_9809161)_(9812250_?)del
|
|
|
NC_000011.9:g.(?_9809171)_(9812240_?)del
|
|
|
NC_000011.9:g.(?_9864152)_(9871785_?)del
|
|
|
NC_000011.9:g.(?_9989878)_(9990102_?)del
|
|
|
NM_030962.4(SBF2):c.*154C>T
|
rs1590064987
|
|
NM_030962.4(SBF2):c.*375G>A
|
rs533676532
|
|
NM_030962.4(SBF2):c.*375G>C
|
rs533676532
|
|
NM_030962.4(SBF2):c.*447A>T
|
rs192282549
|
|
NM_030962.4(SBF2):c.*882T>C
|
rs886048775
|
|
NM_030962.4(SBF2):c.1002A>C (p.Ala334=)
|
|
|
NM_030962.4(SBF2):c.1002A>G (p.Ala334=)
|
|
|
NM_030962.4(SBF2):c.1016C>T (p.Pro339Leu)
|
|
|
NM_030962.4(SBF2):c.1017T>C (p.Pro339=)
|
|
|
NM_030962.4(SBF2):c.1028C>T (p.Thr343Ile)
|
|
|
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu)
|
rs746685729
|
|
NM_030962.4(SBF2):c.1053+11del
|
rs1238757806
|
|
NM_030962.4(SBF2):c.1054-13C>T
|
|
|
NM_030962.4(SBF2):c.1054-15_1054-2del
|
|
|
NM_030962.4(SBF2):c.1065G>A (p.Val355=)
|
rs2134472414
|
|
NM_030962.4(SBF2):c.1088_1296+646del
|
|
|
NM_030962.4(SBF2):c.109G>A (p.Asp37Asn)
|
rs759977048
|
|
NM_030962.4(SBF2):c.1102C>G (p.Gln368Glu)
|
rs2134472163
|
|
NM_030962.4(SBF2):c.1107A>G (p.Gly369=)
|
|
|
NM_030962.4(SBF2):c.1112G>C (p.Arg371Thr)
|
|
|
NM_030962.4(SBF2):c.1130T>G (p.Ile377Arg)
|
rs371432409
|
|
NM_030962.4(SBF2):c.1167+4A>G
|
rs1240919799
|
|
NM_030962.4(SBF2):c.1167+7T>C
|
|
|
NM_030962.4(SBF2):c.1168-13del
|
|
|
NM_030962.4(SBF2):c.116C>T (p.Thr39Ile)
|
rs1957273770
|
|
NM_030962.4(SBF2):c.1183C>A (p.Gln395Lys)
|
rs1590699984
|
|
NM_030962.4(SBF2):c.1189G>T (p.Gly397Cys)
|
rs2134469917
|
|
NM_030962.4(SBF2):c.1197C>T (p.Val399=)
|
|
|
NM_030962.4(SBF2):c.1214C>G (p.Thr405Ser)
|
rs2134469840
|
|
NM_030962.4(SBF2):c.1216A>G (p.Lys406Glu)
|
rs760704483
|
|
NM_030962.4(SBF2):c.1222C>G (p.Leu408Val)
|
rs1220835376
|
|
NM_030962.4(SBF2):c.1240G>A (p.Ala414Thr)
|
rs1947481086
|
|
NM_030962.4(SBF2):c.1273A>C (p.Arg425=)
|
rs1554976504
|
|
NM_030962.4(SBF2):c.1297-10T>C
|
rs1249564766
|
|
NM_030962.4(SBF2):c.1297-2A>G
|
rs752649372
|
|
NM_030962.4(SBF2):c.1297-6T>C
|
rs1554975593
|
|
NM_030962.4(SBF2):c.1308T>G (p.Phe436Leu)
|
rs2134459399
|
|
NM_030962.4(SBF2):c.1333G>A (p.Glu445Lys)
|
rs1565100821
|
|
NM_030962.4(SBF2):c.1338T>C (p.Asn446=)
|
|
|
NM_030962.4(SBF2):c.1351A>G (p.Met451Val)
|
|
|
NM_030962.4(SBF2):c.1395+1G>A
|
rs1947335024
|
|
NM_030962.4(SBF2):c.1395+8_1395+11del
|
rs763174480
|
|
NM_030962.4(SBF2):c.1396-3C>G
|
rs375346684
|
|
NM_030962.4(SBF2):c.1396-8T>C
|
|
|
NM_030962.4(SBF2):c.1396-9A>G
|
rs548520529
|
|
NM_030962.4(SBF2):c.1399A>G (p.Asn467Asp)
|
|
|
NM_030962.4(SBF2):c.141+11G>T
|
rs774519680
|
|
NM_030962.4(SBF2):c.1411C>A (p.His471Asn)
|
|
|
NM_030962.4(SBF2):c.1412A>T (p.His471Leu)
|
rs763176916
|
|
NM_030962.4(SBF2):c.1413T>A (p.His471Gln)
|
rs769911496
|
|
NM_030962.4(SBF2):c.1414A>G (p.Met472Val)
|
rs1590636623
|
|
NM_030962.4(SBF2):c.142-10T>C
|
|
|
NM_030962.4(SBF2):c.142-14del
|
|
|
NM_030962.4(SBF2):c.142-14dup
|
rs530695547
|
|
NM_030962.4(SBF2):c.142-6A>G
|
rs1241730559
|
|
NM_030962.4(SBF2):c.1434A>G (p.Pro478=)
|
rs946519735
|
|
NM_030962.4(SBF2):c.1440A>G (p.Pro480=)
|
|
|
NM_030962.4(SBF2):c.1441A>G (p.Thr481Ala)
|
|
|
NM_030962.4(SBF2):c.1442C>G (p.Thr481Arg)
|
rs2134388086
|
|
NM_030962.4(SBF2):c.1443A>G (p.Thr481=)
|
|
|
NM_030962.4(SBF2):c.1449A>C (p.Gly483=)
|
|
|
NM_030962.4(SBF2):c.144T>A (p.Phe48Leu)
|
|
|
NM_030962.4(SBF2):c.1459C>A (p.Arg487=)
|
rs120074139
|
|
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter)
|
rs120074139
|
|
NM_030962.4(SBF2):c.1491T>C (p.Asn497=)
|
rs767806871
|
|
NM_030962.4(SBF2):c.1498C>A (p.Arg500=)
|
|
|
NM_030962.4(SBF2):c.1515A>T (p.Ile505=)
|
|
|
NM_030962.4(SBF2):c.1516del (p.Gln506fs)
|
|
|
NM_030962.4(SBF2):c.1517A>C (p.Gln506Pro)
|
rs2134387742
|
|
NM_030962.4(SBF2):c.1520A>G (p.Glu507Gly)
|
|
|
NM_030962.4(SBF2):c.1527T>A (p.Val509=)
|
|
|
NM_030962.4(SBF2):c.1536C>T (p.Asn512=)
|
|
|
NM_030962.4(SBF2):c.1537C>G (p.Gln513Glu)
|
|
|
NM_030962.4(SBF2):c.1537C>T (p.Gln513Ter)
|
rs1480710758
|
|
NM_030962.4(SBF2):c.1546C>G (p.Pro516Ala)
|
|
|
NM_030962.4(SBF2):c.1553C>A (p.Ala518Asp)
|
rs1474146157
|
|
NM_030962.4(SBF2):c.1555A>G (p.Thr519Ala)
|
rs2134387621
|
|
NM_030962.4(SBF2):c.156C>A (p.Gly52=)
|
|
|
NM_030962.4(SBF2):c.156C>T (p.Gly52=)
|
rs779676883
|
|
NM_030962.4(SBF2):c.1571A>C (p.Lys524Thr)
|
rs1207040016
|
|
NM_030962.4(SBF2):c.1578T>G (p.Val526=)
|
|
|
NM_030962.4(SBF2):c.157G>A (p.Gly53Arg)
|
|
|
NM_030962.4(SBF2):c.1580T>C (p.Val527Ala)
|
rs1867103004
|
|
NM_030962.4(SBF2):c.1600+17_1600+20del
|
|
|
NM_030962.4(SBF2):c.1600G>C (p.Val534Leu)
|
rs1590635892
|
|
NM_030962.4(SBF2):c.1601-10C>A
|
rs761998992
|
|
NM_030962.4(SBF2):c.1601-13A>G
|
|
|
NM_030962.4(SBF2):c.1601-3T>G
|
rs2134369689
|
|
NM_030962.4(SBF2):c.1601-4C>G
|
rs886048784
|
|
NM_030962.4(SBF2):c.1601-8T>G
|
|
|
NM_030962.4(SBF2):c.1601-8_1601-6del
|
rs2134369709
|
|
NM_030962.4(SBF2):c.1615A>G (p.Lys539Glu)
|
rs775279773
|
|
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu)
|
rs201806063
|
|
NM_030962.4(SBF2):c.161G>A (p.Trp54Ter)
|
rs1166873755
|
|
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met)
|
rs372109447
|
|
NM_030962.4(SBF2):c.1626A>G (p.Thr542=)
|
|
|
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu)
|
rs777289065
|
|
NM_030962.4(SBF2):c.1636A>T (p.Ser546Cys)
|
rs2134369489
|
|
NM_030962.4(SBF2):c.1652_1653inv (p.Glu551Val)
|
|
|
NM_030962.4(SBF2):c.1654G>A (p.Val552Ile)
|
|
|
NM_030962.4(SBF2):c.165G>T (p.Gln55His)
|
|
|
NM_030962.4(SBF2):c.1661G>A (p.Arg554Lys)
|
rs1161860280
|
|
NM_030962.4(SBF2):c.1675T>G (p.Phe559Val)
|
|
|
NM_030962.4(SBF2):c.1675_1677inv (p.Phe559Glu)
|
|
|
NM_030962.4(SBF2):c.167T>C (p.Leu56Pro)
|
|
|
NM_030962.4(SBF2):c.1710+15_1710+28del
|
rs2134369196
|
|
NM_030962.4(SBF2):c.1711-15C>G
|
|
|
NM_030962.4(SBF2):c.1711-5C>A
|
rs770969528
|
|
NM_030962.4(SBF2):c.1711-8G>T
|
rs1590619062
|
|
NM_030962.4(SBF2):c.1711-9T>C
|
rs1866612014
|
|
NM_030962.4(SBF2):c.1722T>A (p.Ala574=)
|
|
|
NM_030962.4(SBF2):c.1758G>C (p.Gln586His)
|
|
|
NM_030962.4(SBF2):c.1768G>A (p.Asp590Asn)
|
rs1565064376
|
|
NM_030962.4(SBF2):c.1818A>G (p.Gln606=)
|
|
|
NM_030962.4(SBF2):c.181A>G (p.Lys61Glu)
|
rs549233218
|
|
NM_030962.4(SBF2):c.1822T>G (p.Phe608Val)
|
rs2134363226
|
|
NM_030962.4(SBF2):c.1831A>T (p.Ile611Leu)
|
rs964428805
|
|
NM_030962.4(SBF2):c.1834A>G (p.Ile612Val)
|
|
|
NM_030962.4(SBF2):c.1837A>G (p.Arg613Gly)
|
|
|
NM_030962.4(SBF2):c.1860+10A>G
|
rs778305149
|
|
NM_030962.4(SBF2):c.1860+15T>C
|
|
|
NM_030962.4(SBF2):c.187C>T (p.Pro63Ser)
|
|
|
NM_030962.4(SBF2):c.192_193dup (p.Phe65fs)
|
rs1949709115
|
|
NM_030962.4(SBF2):c.195C>G (p.Phe65Leu)
|
rs1949709027
|
|
NM_030962.4(SBF2):c.215A>C (p.Asp72Ala)
|
rs1060500000
|
|
NM_030962.4(SBF2):c.246C>T (p.Cys82=)
|
|
|
NM_030962.4(SBF2):c.257A>T (p.Tyr86Phe)
|
rs745669920
|
|
NM_030962.4(SBF2):c.266A>C (p.Glu89Ala)
|
rs1949706329
|
|
NM_030962.4(SBF2):c.267G>T (p.Glu89Asp)
|
rs1565165888
|
|
NM_030962.4(SBF2):c.272A>C (p.Asn91Thr)
|
rs1206056257
|
|
NM_030962.4(SBF2):c.279+15A>G
|
|
|
NM_030962.4(SBF2):c.279+17T>C
|
|
|
NM_030962.4(SBF2):c.279+4C>A
|
rs757128114
|
|
NM_030962.4(SBF2):c.280-17A>C
|
rs777674707
|
|
NM_030962.4(SBF2):c.280-17A>G
|
|
|
NM_030962.4(SBF2):c.280-6_280-5del
|
|
|
NM_030962.4(SBF2):c.293A>G (p.Glu98Gly)
|
|
|
NM_030962.4(SBF2):c.305G>T (p.Gly102Val)
|
|
|
NM_030962.4(SBF2):c.313A>G (p.Lys105Glu)
|
rs139730490
|
|
NM_030962.4(SBF2):c.331C>T (p.Gln111Ter)
|
|
|
NM_030962.4(SBF2):c.332A>C (p.Gln111Pro)
|
rs1949239187
|
|
NM_030962.4(SBF2):c.344T>G (p.Val115Gly)
|
|
|
NM_030962.4(SBF2):c.3456-12A>G
|
|
|
NM_030962.4(SBF2):c.3456-12_3456-11del
|
|
|
NM_030962.4(SBF2):c.3456-18T>C
|
|
|
NM_030962.4(SBF2):c.3456-19C>T
|
|
|
NM_030962.4(SBF2):c.3456-22_3456-18del
|
rs751512324
|
|
NM_030962.4(SBF2):c.3457T>C (p.Tyr1153His)
|
rs1060499998
|
|
NM_030962.4(SBF2):c.3469T>A (p.Leu1157Ile)
|
rs2133937354
|
|
NM_030962.4(SBF2):c.3475G>A (p.Val1159Ile)
|
|
|
NM_030962.4(SBF2):c.3479C>T (p.Pro1160Leu)
|
rs1233967178
|
|
NM_030962.4(SBF2):c.3483A>G (p.Gln1161=)
|
|
|
NM_030962.4(SBF2):c.348T>G (p.Phe116Leu)
|
rs1949238558
|
|
NM_030962.4(SBF2):c.3501T>C (p.Ser1167=)
|
|
|
NM_030962.4(SBF2):c.3505C>A (p.Pro1169Thr)
|
rs535680998
|
|
NM_030962.4(SBF2):c.3507A>G (p.Pro1169=)
|
|
|
NM_030962.4(SBF2):c.3522C>T (p.Cys1174=)
|
|
|
NM_030962.4(SBF2):c.353C>T (p.Pro118Leu)
|
rs1949238001
|
|
NM_030962.4(SBF2):c.3540G>A (p.Leu1180=)
|
|
|
NM_030962.4(SBF2):c.3547G>T (p.Val1183Leu)
|
rs2133937176
|
|
NM_030962.4(SBF2):c.3550T>C (p.Cys1184Arg)
|
rs762738168
|
|
NM_030962.4(SBF2):c.3576T>G (p.Thr1192=)
|
rs779580044
|
|
NM_030962.4(SBF2):c.3579G>C (p.Leu1193=)
|
rs2133937125
|
|
NM_030962.4(SBF2):c.3586C>T (p.Arg1196Ter)
|
rs120074138
|
|
NM_030962.4(SBF2):c.3587G>A (p.Arg1196Gln)
|
rs376309876
|
|
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg)
|
rs869312970
|
|
NM_030962.4(SBF2):c.3609G>A (p.Lys1203=)
|
|
|
NM_030962.4(SBF2):c.3611G>T (p.Gly1204Val)
|
rs781282456
|
|
NM_030962.4(SBF2):c.3618T>C (p.Val1206=)
|
rs1855446145
|
|
NM_030962.4(SBF2):c.3632C>G (p.Ser1211Cys)
|
rs1356162033
|
|
NM_030962.4(SBF2):c.3642C>T (p.Ser1214=)
|
rs2133937017
|
|
NM_030962.4(SBF2):c.3644C>G (p.Pro1215Arg)
|
rs1855445153
|
|
NM_030962.4(SBF2):c.364G>A (p.Val122Met)
|
|
|
NM_030962.4(SBF2):c.3652+13C>G
|
|
|
NM_030962.4(SBF2):c.3652+1G>C
|
|
|
NM_030962.4(SBF2):c.3652+5G>A
|
rs199502044
|
|
NM_030962.4(SBF2):c.3652+9CT[2]
|
rs376260584
|
|
NM_030962.4(SBF2):c.3653-15A>G
|
|
|
NM_030962.4(SBF2):c.3653-19A>C
|
rs1855259655
|
|
NM_030962.4(SBF2):c.3656C>T (p.Pro1219Leu)
|
|
|
NM_030962.4(SBF2):c.3659C>T (p.Thr1220Ile)
|
rs1439541685
|
|
NM_030962.4(SBF2):c.3673T>A (p.Ser1225Thr)
|
|
|
NM_030962.4(SBF2):c.3674C>A (p.Ser1225Tyr)
|
rs759215256
|
|
NM_030962.4(SBF2):c.3674_3691dup (p.Glu1230_Gln1231insProSerSerSerIleGlu)
|
rs2133931845
|
|
NM_030962.4(SBF2):c.3712T>A (p.Leu1238Ile)
|
rs1564890006
|
|
NM_030962.4(SBF2):c.3720T>C (p.Asn1240=)
|
|
|
NM_030962.4(SBF2):c.3722C>A (p.Ala1241Asp)
|
rs779174513
|
|
NM_030962.4(SBF2):c.3734A>G (p.His1245Arg)
|
rs2133931756
|
|
NM_030962.4(SBF2):c.3741A>T (p.Lys1247Asn)
|
rs1855252886
|
|
NM_030962.4(SBF2):c.3745A>G (p.Arg1249Gly)
|
rs1554914278
|
|
NM_030962.4(SBF2):c.3759T>G (p.Thr1253=)
|
|
|
NM_030962.4(SBF2):c.3761T>A (p.Leu1254His)
|
|
|
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro)
|
rs762211340
|
|
NM_030962.4(SBF2):c.3777C>A (p.Ala1259=)
|
|
|
NM_030962.4(SBF2):c.3777C>G (p.Ala1259=)
|
|
|
NM_030962.4(SBF2):c.3784C>G (p.Leu1262Val)
|
rs1270676073
|
|
NM_030962.4(SBF2):c.3784C>T (p.Leu1262=)
|
rs1270676073
|
|
NM_030962.4(SBF2):c.3793+10G>A
|
|
|
NM_030962.4(SBF2):c.3793+14A>G
|
rs2133931561
|
|
NM_030962.4(SBF2):c.3793+14_3793+16del
|
rs773684325
|
|
NM_030962.4(SBF2):c.3793+17C>A
|
rs755950037
|
|
NM_030962.4(SBF2):c.3793+17C>T
|
|
|
NM_030962.4(SBF2):c.3794-11C>T
|
|
|
NM_030962.4(SBF2):c.379T>C (p.Leu127=)
|
|
|
NM_030962.4(SBF2):c.3804A>C (p.Ala1268=)
|
|
|
NM_030962.4(SBF2):c.3812G>T (p.Arg1271Leu)
|
rs201249004
|
|
NM_030962.4(SBF2):c.3823C>G (p.Arg1275Gly)
|
rs956737183
|
|
NM_030962.4(SBF2):c.3837T>G (p.Ser1279=)
|
rs1554909254
|
|
NM_030962.4(SBF2):c.3840A>G (p.Pro1280=)
|
|
|
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala)
|
rs869312963
|
|
NM_030962.4(SBF2):c.3866G>T (p.Arg1289Leu)
|
rs757836523
|
|
NM_030962.4(SBF2):c.3871G>C (p.Ala1291Pro)
|
rs1488414945
|
|
NM_030962.4(SBF2):c.387T>A (p.Tyr129Ter)
|
|
|
NM_030962.4(SBF2):c.387T>C (p.Tyr129=)
|
rs1590797444
|
|
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=)
|
rs375669985
|
|
NM_030962.4(SBF2):c.389C>T (p.Pro130Leu)
|
rs1201147678
|
|
NM_030962.4(SBF2):c.3902A>G (p.Asn1301Ser)
|
rs1429630644
|
|
NM_030962.4(SBF2):c.3925C>T (p.Leu1309Phe)
|
rs1564879807
|
|
NM_030962.4(SBF2):c.3938A>G (p.Gln1313Arg)
|
rs1554909178
|
|
NM_030962.4(SBF2):c.3945C>G (p.Ala1315=)
|
|
|
NM_030962.4(SBF2):c.394A>G (p.Ile132Val)
|
|
|
NM_030962.4(SBF2):c.3956T>G (p.Phe1319Cys)
|
rs2133911307
|
|
NM_030962.4(SBF2):c.3969G>T (p.Ser1323=)
|
rs77833016
|
|
NM_030962.4(SBF2):c.3975A>G (p.Leu1325=)
|
|
|
NM_030962.4(SBF2):c.3979-2A>G
|
|
|
NM_030962.4(SBF2):c.3979-4G>A
|
rs375742620
|
|
NM_030962.4(SBF2):c.3979-4G>T
|
rs375742620
|
|
NM_030962.4(SBF2):c.3979-5C>T
|
|
|
NM_030962.4(SBF2):c.3979-9C>T
|
|
|
NM_030962.4(SBF2):c.402+11_402+21del
|
|
|
NM_030962.4(SBF2):c.402+12_402+13insAAAAAATG
|
|
|
NM_030962.4(SBF2):c.402+14A>G
|
|
|
NM_030962.4(SBF2):c.402+15G>C
|
|
|
NM_030962.4(SBF2):c.402+16T>C
|
|
|
NM_030962.4(SBF2):c.403-11T>C
|
|
|
NM_030962.4(SBF2):c.403-12A>T
|
|
|
NM_030962.4(SBF2):c.403-13T>C
|
|
|
NM_030962.4(SBF2):c.403-4G>C
|
|
|
NM_030962.4(SBF2):c.403-5del
|
|
|
NM_030962.4(SBF2):c.4052C>A (p.Ala1351Asp)
|
rs2133904474
|
|
NM_030962.4(SBF2):c.405T>C (p.Ala135=)
|
|
|
NM_030962.4(SBF2):c.4067T>C (p.Leu1356Pro)
|
rs1854252785
|
|
NM_030962.4(SBF2):c.4074G>A (p.Arg1358=)
|
|
|
NM_030962.4(SBF2):c.4090A>G (p.Thr1364Ala)
|
|
|
NM_030962.4(SBF2):c.4094T>G (p.Ile1365Ser)
|
|
|
NM_030962.4(SBF2):c.409C>G (p.Leu137Val)
|
rs200954150
|
|
NM_030962.4(SBF2):c.4111G>A (p.Val1371Met)
|
rs149501654
|
|
NM_030962.4(SBF2):c.411G>T (p.Leu137=)
|
rs1949191944
|
|
NM_030962.4(SBF2):c.4121T>G (p.Leu1374Arg)
|
rs1854248122
|
|
NM_030962.4(SBF2):c.412G>C (p.Gly138Arg)
|
|
|
NM_030962.4(SBF2):c.4133G>A (p.Gly1378Glu)
|
rs1854247198
|
|
NM_030962.4(SBF2):c.4137T>C (p.Asp1379=)
|
|
|
NM_030962.4(SBF2):c.4146G>C (p.Trp1382Cys)
|
rs1854246275
|
|
NM_030962.4(SBF2):c.4155+16G>C
|
|
|
NM_030962.4(SBF2):c.4155+7T>C
|
|
|
NM_030962.4(SBF2):c.4156-15_4156-5del
|
rs745522461
|
|
NM_030962.4(SBF2):c.4156-4T>C
|
|
|
NM_030962.4(SBF2):c.4156-7C>G
|
rs2133898233
|
|
NM_030962.4(SBF2):c.4156-9G>A
|
rs2133898236
|
|
NM_030962.4(SBF2):c.415T>G (p.Leu139Val)
|
rs146361949
|
|
NM_030962.4(SBF2):c.4161C>T (p.His1387=)
|
|
|
NM_030962.4(SBF2):c.4162A>C (p.Arg1388=)
|
rs1854010179
|
|
NM_030962.4(SBF2):c.4171C>G (p.Gln1391Glu)
|
|
|
NM_030962.4(SBF2):c.4173G>T (p.Gln1391His)
|
|
|
NM_030962.4(SBF2):c.417G>A (p.Leu139=)
|
|
|
NM_030962.4(SBF2):c.4183G>T (p.Val1395Phe)
|
|
|
NM_030962.4(SBF2):c.4187dup (p.Ser1397fs)
|
|
|
NM_030962.4(SBF2):c.4203G>C (p.Glu1401Asp)
|
rs750353766
|
|
NM_030962.4(SBF2):c.4209T>C (p.Gly1403=)
|
|
|
NM_030962.4(SBF2):c.420C>A (p.Ile140=)
|
|
|
NM_030962.4(SBF2):c.4214C>T (p.Ser1405Leu)
|
|
|
NM_030962.4(SBF2):c.4221G>C (p.Leu1407Phe)
|
|
|
NM_030962.4(SBF2):c.4236A>G (p.Glu1412=)
|
|
|
NM_030962.4(SBF2):c.4257+14C>T
|
rs771419758
|
|
NM_030962.4(SBF2):c.4257+17del
|
|
|
NM_030962.4(SBF2):c.4257+20T>C
|
|
|
NM_030962.4(SBF2):c.4258-18A>T
|
|
|
NM_030962.4(SBF2):c.4258-20C>G
|
rs1324228041
|
|
NM_030962.4(SBF2):c.4260G>T (p.Val1420=)
|
|
|
NM_030962.4(SBF2):c.426C>T (p.Thr142=)
|
|
|
NM_030962.4(SBF2):c.4279C>T (p.Leu1427Phe)
|
rs760329902
|
|
NM_030962.4(SBF2):c.4282A>G (p.Ser1428Gly)
|
rs2133896771
|
|
NM_030962.4(SBF2):c.4283G>T (p.Ser1428Ile)
|
rs1853958713
|
|
NM_030962.4(SBF2):c.4290C>T (p.Pro1430=)
|
rs1853958405
|
|
NM_030962.4(SBF2):c.4296T>G (p.Tyr1432Ter)
|
|
|
NM_030962.4(SBF2):c.4297dup (p.Arg1433fs)
|
|
|
NM_030962.4(SBF2):c.4299G>C (p.Arg1433Ser)
|
rs1590131053
|
|
NM_030962.4(SBF2):c.4301C>T (p.Thr1434Ile)
|
|
|
NM_030962.4(SBF2):c.4331_4332del (p.Lys1444fs)
|
rs1853955279
|
|
NM_030962.4(SBF2):c.4332A>C (p.Lys1444Asn)
|
rs1853955123
|
|
NM_030962.4(SBF2):c.4347T>C (p.Phe1449=)
|
|
|
NM_030962.4(SBF2):c.4351C>G (p.His1451Asp)
|
rs2133896649
|
|
NM_030962.4(SBF2):c.4355A>G (p.Lys1452Arg)
|
rs1853954509
|
|
NM_030962.4(SBF2):c.4363C>T (p.Gln1455Ter)
|
|
|
NM_030962.4(SBF2):c.4368G>A (p.Arg1456=)
|
|
|
NM_030962.4(SBF2):c.4377G>C (p.Leu1459Phe)
|
|
|
NM_030962.4(SBF2):c.4384A>T (p.Asn1462Tyr)
|
rs1853953374
|
|
NM_030962.4(SBF2):c.4395G>A (p.Gly1465=)
|
|
|
NM_030962.4(SBF2):c.4408C>G (p.Pro1470Ala)
|
|
|
NM_030962.4(SBF2):c.440G>A (p.Ser147Asn)
|
rs1949190497
|
|
NM_030962.4(SBF2):c.4420C>G (p.Gln1474Glu)
|
rs1590130857
|
|
NM_030962.4(SBF2):c.4425C>G (p.Phe1475Leu)
|
|
|
NM_030962.4(SBF2):c.4443+13A>T
|
|
|
NM_030962.4(SBF2):c.4443+14G>T
|
|
|
NM_030962.4(SBF2):c.4443+18G>C
|
|
|
NM_030962.4(SBF2):c.4443+19A>T
|
|
|
NM_030962.4(SBF2):c.4443+1G>A
|
rs1564872328
|
|
NM_030962.4(SBF2):c.4443+1G>C
|
rs1564872328
|
|
NM_030962.4(SBF2):c.4444G>A (p.Val1482Ile)
|
|
|
NM_030962.4(SBF2):c.4465G>A (p.Glu1489Lys)
|
rs864622502
|
|
NM_030962.4(SBF2):c.4478A>G (p.Asn1493Ser)
|
|
|
NM_030962.4(SBF2):c.4491A>G (p.Leu1497=)
|
|
|
NM_030962.4(SBF2):c.4510T>G (p.Tyr1504Asp)
|
rs1853093188
|
|
NM_030962.4(SBF2):c.4516T>G (p.Ser1506Ala)
|
|
|
NM_030962.4(SBF2):c.4522C>G (p.Arg1508Gly)
|
rs141108330
|
|
NM_030962.4(SBF2):c.4539C>T (p.Leu1513=)
|
rs756073763
|
|
NM_030962.4(SBF2):c.4564G>C (p.Glu1522Gln)
|
rs1853090043
|
|
NM_030962.4(SBF2):c.456G>A (p.Leu152=)
|
rs1949189908
|
|
NM_030962.4(SBF2):c.4570+13A>T
|
rs945495130
|
|
NM_030962.4(SBF2):c.4570+14T>C
|
|
|
NM_030962.4(SBF2):c.4570+19T>C
|
|
|
NM_030962.4(SBF2):c.4570+20T>C
|
|
|
NM_030962.4(SBF2):c.463C>T (p.Leu155=)
|
|
|
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe)
|
rs1214507322
|
|
NM_030962.4(SBF2):c.492C>G (p.Val164=)
|
rs559769224
|
|
NM_030962.4(SBF2):c.494C>T (p.Pro165Leu)
|
rs1949187604
|
|
NM_030962.4(SBF2):c.497C>T (p.Ala166Val)
|
|
|
NM_030962.4(SBF2):c.498G>A (p.Ala166=)
|
|
|
NM_030962.4(SBF2):c.506G>A (p.Gly169Glu)
|
rs1949186665
|
|
NM_030962.4(SBF2):c.513+10A>G
|
|
|
NM_030962.4(SBF2):c.513+4A>G
|
rs1554990552
|
|
NM_030962.4(SBF2):c.513+5A>G
|
rs1949186125
|
|
NM_030962.4(SBF2):c.514-12C>A
|
rs770141264
|
|
NM_030962.4(SBF2):c.514-9A>G
|
rs906365170
|
|
NM_030962.4(SBF2):c.525T>C (p.Ser175=)
|
rs2134627335
|
|
NM_030962.4(SBF2):c.527T>C (p.Leu176Ser)
|
rs1554990128
|
|
NM_030962.4(SBF2):c.536G>A (p.Gly179Glu)
|
|
|
NM_030962.4(SBF2):c.5452-13T>C
|
|
|
NM_030962.4(SBF2):c.5452-16T>C
|
|
|
NM_030962.4(SBF2):c.5452-3T>C
|
rs770176461
|
|
NM_030962.4(SBF2):c.5470G>A (p.Val1824Met)
|
rs1851934295
|
|
NM_030962.4(SBF2):c.5472G>A (p.Val1824=)
|
rs1353568885
|
|
NM_030962.4(SBF2):c.5472G>C (p.Val1824=)
|
rs1353568885
|
|
NM_030962.4(SBF2):c.5498A>G (p.Gln1833Arg)
|
rs763965438
|
|
NM_030962.4(SBF2):c.5503G>A (p.Ala1835Thr)
|
rs886048778
|
|
NM_030962.4(SBF2):c.5522A>G (p.Lys1841Arg)
|
|
|
NM_030962.4(SBF2):c.5530_5531del (p.Ser1844fs)
|
rs1293444505
|
|
NM_030962.4(SBF2):c.5547C>A (p.Ala1849=)
|
|
|
NM_030962.4(SBF2):c.555G>C (p.Gln185His)
|
rs1254270693
|
|
NM_030962.4(SBF2):c.56-1G>A
|
rs2135330973
|
|
NM_030962.4(SBF2):c.564A>G (p.Leu188=)
|
|
|
NM_030962.4(SBF2):c.565C>T (p.His189Tyr)
|
rs1280211892
|
|
NM_030962.4(SBF2):c.568G>A (p.Asp190Asn)
|
rs201738577
|
|
NM_030962.4(SBF2):c.574C>G (p.Leu192Val)
|
rs1949129969
|
|
NM_030962.4(SBF2):c.595G>A (p.Val199Met)
|
|
|
NM_030962.4(SBF2):c.600T>G (p.Ala200=)
|
rs770433606
|
|
NM_030962.4(SBF2):c.610C>T (p.Gln204Ter)
|
rs141133392
|
|
NM_030962.4(SBF2):c.611A>G (p.Gln204Arg)
|
rs2134626742
|
|
NM_030962.4(SBF2):c.612G>A (p.Gln204=)
|
rs1554990046
|
|
NM_030962.4(SBF2):c.613C>T (p.Gln205Ter)
|
|
|
NM_030962.4(SBF2):c.614A>C (p.Gln205Pro)
|
rs1949128392
|
|
NM_030962.4(SBF2):c.615A>G (p.Gln205=)
|
|
|
NM_030962.4(SBF2):c.616T>C (p.Leu206=)
|
rs1590791206
|
|
NM_030962.4(SBF2):c.619+18T>C
|
|
|
NM_030962.4(SBF2):c.619+6T>A
|
|
|
NM_030962.4(SBF2):c.61G>A (p.Gly21Arg)
|
rs774844294
|
|
NM_030962.4(SBF2):c.620-10dup
|
rs1948023557
|
|
NM_030962.4(SBF2):c.626A>C (p.Gln209Pro)
|
|
|
NM_030962.4(SBF2):c.636C>T (p.Leu212=)
|
|
|
NM_030962.4(SBF2):c.651A>C (p.Ala217=)
|
rs200293270
|
|
NM_030962.4(SBF2):c.673C>T (p.Leu225Phe)
|
|
|
NM_030962.4(SBF2):c.674T>C (p.Leu225Pro)
|
|
|
NM_030962.4(SBF2):c.675C>G (p.Leu225=)
|
rs2134514191
|
|
NM_030962.4(SBF2):c.699A>G (p.Arg233=)
|
|
|
NM_030962.4(SBF2):c.700C>T (p.Leu234Phe)
|
rs749378136
|
|
NM_030962.4(SBF2):c.716G>A (p.Arg239Lys)
|
|
|
NM_030962.4(SBF2):c.724G>T (p.Glu242Ter)
|
|
|
NM_030962.4(SBF2):c.727T>A (p.Ser243Thr)
|
|
|
NM_030962.4(SBF2):c.728C>A (p.Ser243Tyr)
|
rs2134513972
|
|
NM_030962.4(SBF2):c.735G>A (p.Met245Ile)
|
rs1554981022
|
|
NM_030962.4(SBF2):c.745A>G (p.Lys249Glu)
|
|
|
NM_030962.4(SBF2):c.747A>G (p.Lys249=)
|
rs1554981019
|
|
NM_030962.4(SBF2):c.752+12A>G
|
|
|
NM_030962.4(SBF2):c.753-10T>C
|
rs2134507238
|
|
NM_030962.4(SBF2):c.753-16T>C
|
rs7128234
|
|
NM_030962.4(SBF2):c.753-18T>C
|
|
|
NM_030962.4(SBF2):c.753-4C>G
|
|
|
NM_030962.4(SBF2):c.754_823del (p.Tyr252fs)
|
rs1565115957
|
|
NM_030962.4(SBF2):c.75G>A (p.Gly25=)
|
rs1279874044
|
|
NM_030962.4(SBF2):c.766C>A (p.Pro256Thr)
|
rs879253987
|
|
NM_030962.4(SBF2):c.767C>G (p.Pro256Arg)
|
rs1947932193
|
|
NM_030962.4(SBF2):c.76A>G (p.Lys26Glu)
|
|
|
NM_030962.4(SBF2):c.772C>G (p.Leu258Val)
|
|
|
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
|
|
|
NM_030962.4(SBF2):c.782A>G (p.Gln261Arg)
|
|
|
NM_030962.4(SBF2):c.791A>G (p.Glu264Gly)
|
rs928271143
|
|
NM_030962.4(SBF2):c.793G>T (p.Val265Phe)
|
rs1655963955
|
|
NM_030962.4(SBF2):c.796C>G (p.Leu266Val)
|
rs1565116051
|
|
NM_030962.4(SBF2):c.804C>T (p.Ser268=)
|
rs763567646
|
|
NM_030962.4(SBF2):c.810G>T (p.Thr270=)
|
rs769963369
|
|
NM_030962.4(SBF2):c.815dup (p.Ile273fs)
|
|
|
NM_030962.4(SBF2):c.819T>C (p.Ile273=)
|
rs1947929110
|
|
NM_030962.4(SBF2):c.820A>G (p.Ile274Val)
|
|
|
NM_030962.4(SBF2):c.861+5G>C
|
rs879253963
|
|
NM_030962.4(SBF2):c.861+9T>A
|
rs1947927028
|
|
NM_030962.4(SBF2):c.861+9T>G
|
rs1947927028
|
|
NM_030962.4(SBF2):c.862-12T>A
|
|
|
NM_030962.4(SBF2):c.862-12dup
|
rs766293143
|
|
NM_030962.4(SBF2):c.862-15T>C
|
|
|
NM_030962.4(SBF2):c.862-2A>G
|
rs1590716243
|
|
NM_030962.4(SBF2):c.862-7C>G
|
|
|
NM_030962.4(SBF2):c.873C>T (p.Ile291=)
|
rs2134496815
|
|
NM_030962.4(SBF2):c.873_875del (p.Ile292del)
|
rs2134496803
|
|
NM_030962.4(SBF2):c.883T>A (p.Leu295Met)
|
|
|
NM_030962.4(SBF2):c.887A>T (p.Asp296Val)
|
|
|
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys)
|
rs781039677
|
|
NM_030962.4(SBF2):c.910G>C (p.Glu304Gln)
|
rs781039677
|
|
NM_030962.4(SBF2):c.931C>T (p.Leu311Phe)
|
|
|
NM_030962.4(SBF2):c.933C>A (p.Leu311=)
|
|
|
NM_030962.4(SBF2):c.935C>T (p.Pro312Leu)
|
rs1947799030
|
|
NM_030962.4(SBF2):c.948A>C (p.Leu316=)
|
rs772340409
|
|
NM_030962.4(SBF2):c.952C>T (p.Gln318Ter)
|
|
|
NM_030962.4(SBF2):c.958C>T (p.Gln320Ter)
|
|
|
NM_030962.4(SBF2):c.975+10A>G
|
|
|
NM_030962.4(SBF2):c.975+8A>G
|
rs371861993
|
|
NM_030962.4(SBF2):c.981A>G (p.Leu327=)
|
|
|
NM_030962.4(SBF2):c.986C>T (p.Pro329Leu)
|
|
|
NM_030962.4(SBF2):c.989A>G (p.Asp330Gly)
|
|
|