|
NM_000168.6(GLI3):c.1356+11G>C
|
rs846273
|
0.97240
|
|
NM_006912.6(RIT1):c.430-7C>T
|
rs1749409
|
0.80479
|
|
NM_006270.5(RRAS):c.344+13G>A
|
rs1368464
|
0.71978
|
|
NM_006270.5(RRAS):c.333C>T (p.Asn111=)
|
rs1865077
|
0.71974
|
|
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala)
|
rs846266
|
0.64495
|
|
NM_006939.4(SOS2):c.2232C>T (p.Asn744=)
|
rs2229869
|
0.60005
|
|
NM_012431.3(SEMA3E):c.998+12A>T
|
rs2245441
|
0.51207
|
|
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=)
|
rs2722985
|
0.49353
|
|
NM_012431.3(SEMA3E):c.276+3966C>G
|
rs2255715
|
0.45623
|
|
NM_006147.4(IRF6):c.459G>T (p.Ser153=)
|
rs2013162
|
0.35925
|
|
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=)
|
rs2722974
|
0.35335
|
|
NM_001379200.1(TBX1):c.691C>T (p.Leu231=)
|
rs2301558
|
0.34251
|
|
NM_006147.4(IRF6):c.175-5C>G
|
rs7552506
|
0.32118
|
|
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu)
|
rs929387
|
0.31467
|
|
NM_006939.4(SOS2):c.88-6T>C
|
rs12888783
|
0.31349
|
|
NM_181523.3(PIK3R1):c.334+14A>C
|
rs706714
|
0.31124
|
|
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=)
|
rs706713
|
0.31073
|
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
|
NM_006270.5(RRAS):c.454-10C>G
|
rs731861
|
0.23663
|
|
NC_000022.11:g.19755901C>T
|
rs41260844
|
0.23484
|
|
NM_005996.4(TBX3):c.*1510A>G
|
rs1061657
|
0.22845
|
|
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile)
|
rs3730089
|
0.22679
|
|
NM_001379200.1(TBX1):c.960A>G (p.Ala320=)
|
rs41298840
|
0.17709
|
|
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His)
|
rs72646967
|
0.17704
|
|
NM_001379200.1(TBX1):c.447T>C (p.Phe149=)
|
rs41298814
|
0.17676
|
|
NM_000346.4(SOX9):c.507C>T (p.His169=)
|
rs2229989
|
0.16350
|
|
NM_006939.4(SOS2):c.3490-18A>C
|
rs79858475
|
0.14981
|
|
NM_017780.4(CHD7):c.6103+8C>T
|
rs3763592
|
0.14641
|
|
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=)
|
rs28621009
|
0.14431
|
|
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)
|
rs2068096
|
0.12528
|
|
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser)
|
rs1040461
|
0.11850
|
|
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro)
|
rs61729612
|
0.11028
|
|
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=)
|
rs13054377
|
0.09863
|
|
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu)
|
rs1206038
|
0.08528
|
|
NM_001271938.2(MEGF8):c.1934-7T>C
|
rs1206044
|
0.08176
|
|
NM_000168.6(GLI3):c.900C>T (p.Ser300=)
|
rs35961850
|
0.07677
|
|
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=)
|
rs2371545
|
0.07602
|
|
NM_000168.6(GLI3):c.537C>T (p.His179=)
|
rs3898405
|
0.07173
|
|
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=)
|
rs34089404
|
0.07043
|
|
NM_000165.5(GJA1):c.*3dup
|
rs397824185
|
0.05665
|
|
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=)
|
rs3730090
|
0.04903
|
|
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=)
|
rs3729981
|
0.04683
|
|
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=)
|
rs61995685
|
0.04463
|
|
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=)
|
rs149155949
|
0.04455
|
|
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)
|
rs2272727
|
0.04082
|
|
NM_080647.1(TBX1):c.-882C>T
|
rs41298629
|
0.03856
|
|
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=)
|
rs61636768
|
0.03837
|
|
NM_006147.4(IRF6):c.-75-4A>G
|
rs2235377
|
0.03786
|
|
NM_006147.4(IRF6):c.820G>A (p.Val274Ile)
|
rs2235371
|
0.03768
|
|
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys)
|
rs35364414
|
0.03460
|
|
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu)
|
rs35280470
|
0.03456
|
|
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=)
|
rs35473255
|
0.03322
|
|
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=)
|
rs116630802
|
0.03297
|
|
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)
|
rs6999971
|
0.03071
|
|
NM_005996.4(TBX3):c.1126T>A (p.Ser376Thr)
|
rs78115331
|
0.03014
|
|
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=)
|
rs61749601
|
0.02836
|
|
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn)
|
rs17122201
|
0.02622
|
|
NM_001271938.2(MEGF8):c.1933+13A>G
|
rs139484187
|
0.02617
|
|
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val)
|
rs61729610
|
0.02589
|
|
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=)
|
rs10425783
|
0.02385
|
|
NM_001379200.1(TBX1):c.324G>A (p.Ala108=)
|
rs72646953
|
0.02309
|
|
NM_006939.4(SOS2):c.816T>C (p.Ser272=)
|
rs35396088
|
0.02130
|
|
NM_006147.4(IRF6):c.1153T>C (p.Leu385=)
|
rs61099902
|
0.02121
|
|
NM_017780.4(CHD7):c.2124T>C (p.Ser708=)
|
rs79302359
|
0.01911
|
|
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=)
|
rs16926499
|
0.01905
|
|
NM_000168.6(GLI3):c.2835G>C (p.Leu945=)
|
rs61758978
|
0.01858
|
|
NM_000346.4(SOX9):c.1113G>A (p.Ala371=)
|
rs929651
|
0.01816
|
|
NM_005996.4(TBX3):c.1173G>C (p.Ala391=)
|
rs146589414
|
0.01711
|
|
NM_005996.4(TBX3):c.619C>T (p.Leu207=)
|
rs35069811
|
0.01702
|
|
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met)
|
rs112167630
|
0.01684
|
|
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=)
|
rs28483598
|
0.01653
|
|
NM_001271938.2(MEGF8):c.3351-3C>T
|
rs10411498
|
0.01637
|
|
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=)
|
rs61729627
|
0.01533
|
|
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=)
|
rs78335246
|
0.01393
|
|
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=)
|
rs35448119
|
0.01377
|
|
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)
|
rs41272435
|
0.01358
|
|
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=)
|
rs115335139
|
0.01335
|
|
NM_005996.4(TBX3):c.2082A>G (p.Lys694=)
|
rs34831817
|
0.01295
|
|
NM_000168.6(GLI3):c.1029-7C>T
|
rs78280303
|
0.01279
|
|
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=)
|
rs35468447
|
0.01216
|
|
NM_005996.4(TBX3):c.777C>T (p.Ile259=)
|
rs34627348
|
0.01205
|
|
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=)
|
rs28505908
|
0.01156
|
|
NM_001379200.1(TBX1):c.102G>T (p.Gly34=)
|
rs72646952
|
0.01097
|
|
NM_017780.4(CHD7):c.4534-13T>G
|
rs114996731
|
0.01094
|
|
NM_000052.7(ATP7A):c.327G>A (p.Lys109=)
|
rs61747968
|
0.00978
|
|
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=)
|
rs150535071
|
0.00974
|
|
NM_006939.4(SOS2):c.2162-4C>A
|
rs57179949
|
0.00961
|
|
NM_005996.4(TBX3):c.1094A>G (p.His365Arg)
|
rs141004177
|
0.00944
|
|
NM_000165.5(GJA1):c.758C>T (p.Ala253Val)
|
rs17653265
|
0.00930
|
|
NM_001271938.2(MEGF8):c.6641+15G>A
|
rs118098511
|
0.00926
|
|
NM_017780.4(CHD7):c.657C>T (p.Gly219=)
|
rs113483301
|
0.00881
|
|
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys)
|
rs11881304
|
0.00870
|
|
NM_000168.6(GLI3):c.1029-11C>T
|
rs116195563
|
0.00867
|
|
NM_000168.6(GLI3):c.368-19G>A
|
rs79879393
|
0.00858
|
|
NM_006939.4(SOS2):c.591A>G (p.Leu197=)
|
rs113460230
|
0.00834
|
|
NM_006912.6(RIT1):c.375C>T (p.Asp125=)
|
rs34831194
|
0.00759
|
|
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val)
|
rs143907597
|
0.00750
|
|
NM_001271938.2(MEGF8):c.5011+15C>T
|
rs78233194
|
0.00745
|
|
NM_006939.4(SOS2):c.3075+7C>T
|
rs144391749
|
0.00743
|
|
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val)
|
rs2228447
|
0.00731
|
|
NM_001271938.2(MEGF8):c.5489-16C>T
|
rs35875097
|
0.00707
|
|
NM_006939.4(SOS2):c.3489+19C>T
|
rs149825446
|
0.00700
|
|
NM_005996.4(TBX3):c.61C>T (p.Leu21=)
|
rs142592809
|
0.00685
|
|
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=)
|
rs62648096
|
0.00664
|
|
NM_181523.3(PIK3R1):c.1118+11G>A
|
rs140892282
|
0.00661
|
|
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=)
|
rs115428796
|
0.00640
|
|
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu)
|
rs147216997
|
0.00639
|
|
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)
|
rs41312170
|
0.00625
|
|
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=)
|
rs115536529
|
0.00618
|
|
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=)
|
rs149279834
|
0.00602
|
|
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)
|
rs45479896
|
0.00589
|
|
NM_017780.4(CHD7):c.309G>A (p.Ser103=)
|
rs115293759
|
0.00586
|
|
NM_017780.4(CHD7):c.5051-4C>T
|
rs71640288
|
0.00577
|
|
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=)
|
rs73768883
|
0.00567
|
|
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile)
|
rs34139502
|
0.00561
|
|
NM_000168.6(GLI3):c.2802G>A (p.Ala934=)
|
rs61730503
|
0.00520
|
|
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=)
|
rs61729608
|
0.00518
|
|
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser)
|
rs146130351
|
0.00514
|
|
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg)
|
rs121917710
|
0.00511
|
|
NM_000052.7(ATP7A):c.610+8G>A
|
rs144616937
|
0.00506
|
|
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=)
|
rs576629405
|
0.00506
|
|
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly)
|
rs537269414
|
0.00506
|
|
NM_017780.4(CHD7):c.1018A>G (p.Met340Val)
|
rs41305525
|
0.00505
|
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
|
NM_003106.4(SOX2):c.453G>A (p.Ala151=)
|
rs74480245
|
0.00491
|
|
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)
|
rs61753399
|
0.00482
|
|
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)
|
rs61742801
|
0.00476
|
|
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=)
|
rs112433681
|
0.00470
|
|
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)
|
rs141947938
|
0.00470
|
|
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=)
|
rs80079143
|
0.00465
|
|
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu)
|
rs145419251
|
0.00424
|
|
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)
|
rs72681869
|
0.00421
|
|
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=)
|
rs138473998
|
0.00407
|
|
NM_001271938.2(MEGF8):c.352-4G>A
|
rs143955737
|
0.00396
|
|
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)
|
rs142204796
|
0.00396
|
|
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn)
|
rs61760904
|
0.00394
|
|
NM_000052.7(ATP7A):c.4226+11T>C
|
rs200009243
|
0.00383
|
|
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys)
|
rs61742278
|
0.00380
|
|
NM_006270.5(RRAS):c.408C>T (p.Pro136=)
|
rs114187560
|
0.00377
|
|
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)
|
rs184814820
|
0.00358
|
|
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn)
|
rs144655617
|
0.00356
|
|
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=)
|
rs41312172
|
0.00354
|
|
NM_006939.4(SOS2):c.1344G>A (p.Leu448=)
|
rs35530861
|
0.00350
|
|
NM_005996.4(TBX3):c.1653C>T (p.Ser551=)
|
rs201695541
|
0.00346
|
|
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg)
|
rs35488756
|
0.00320
|
|
NM_001379200.1(TBX1):c.471C>T (p.Phe157=)
|
rs139776757
|
0.00318
|
|
NM_000346.4(SOX9):c.276G>T (p.Pro92=)
|
rs139490970
|
0.00312
|
|
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His)
|
rs45623135
|
0.00308
|
|
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)
|
rs61995713
|
0.00290
|
|
NM_001271938.2(MEGF8):c.5488+12T>C
|
rs188285054
|
0.00284
|
|
NM_005996.4(TBX3):c.1236G>T (p.Ser412=)
|
rs62640916
|
0.00282
|
|
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp)
|
rs148765730
|
0.00280
|
|
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)
|
rs146458902
|
0.00274
|
|
NM_001271938.2(MEGF8):c.6481+11T>G
|
rs138919410
|
0.00270
|
|
NM_000168.6(GLI3):c.2373G>A (p.Pro791=)
|
rs61754622
|
0.00267
|
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
|
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln)
|
rs149787596
|
0.00266
|
|
NM_016277.5(RAB23):c.481+5A>G
|
rs150762175
|
0.00259
|
|
NM_000168.6(GLI3):c.1357-17C>G
|
rs190600888
|
0.00256
|
|
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=)
|
rs61746518
|
0.00255
|
|
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile)
|
rs147133204
|
0.00251
|
|
NM_000168.6(GLI3):c.1028+15G>A
|
rs116842918
|
0.00250
|
|
NM_001271938.2(MEGF8):c.5721-10T>C
|
rs188531875
|
0.00240
|
|
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser)
|
rs190548814
|
0.00239
|
|
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=)
|
rs201174259
|
0.00238
|
|
NM_006147.4(IRF6):c.759T>C (p.Tyr253=)
|
rs41303263
|
0.00237
|
|
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=)
|
rs61736186
|
0.00229
|
|
NM_001379200.1(TBX1):c.519G>A (p.Pro173=)
|
rs111754814
|
0.00226
|
|
NM_017780.4(CHD7):c.1536A>G (p.Pro512=)
|
rs148577619
|
0.00218
|
|
NM_017780.4(CHD7):c.216T>C (p.Tyr72=)
|
rs16926453
|
0.00217
|
|
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser)
|
rs118149040
|
0.00207
|
|
NM_000346.4(SOX9):c.685+8G>A
|
rs117696751
|
0.00205
|
|
NM_005996.4(TBX3):c.1899C>T (p.Ser633=)
|
rs200569006
|
0.00204
|
|
NM_000168.6(GLI3):c.840C>G (p.Ser280=)
|
rs77084911
|
0.00198
|
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
|
NM_000168.6(GLI3):c.280C>T (p.Leu94=)
|
rs115137047
|
0.00193
|
|
NM_001271938.2(MEGF8):c.5412G>A (p.Ser1804=)
|
rs139648725
|
0.00193
|
|
NM_000168.6(GLI3):c.444C>T (p.Tyr148=)
|
rs142241970
|
0.00191
|
|
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=)
|
rs201132710
|
0.00187
|
|
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys)
|
rs141224456
|
0.00186
|
|
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=)
|
rs145886667
|
0.00177
|
|
NM_017780.4(CHD7):c.1179A>G (p.Pro393=)
|
rs111238892
|
0.00177
|
|
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val)
|
rs45521933
|
0.00176
|
|
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=)
|
rs61746542
|
0.00167
|
|
NM_003106.4(SOX2):c.834C>T (p.Leu278=)
|
rs144530684
|
0.00166
|
|
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=)
|
rs79203206
|
0.00160
|
|
NM_017780.4(CHD7):c.2067G>A (p.Thr689=)
|
rs34979623
|
0.00156
|
|
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=)
|
rs3745237
|
0.00153
|
|
NM_017780.4(CHD7):c.712G>A (p.Val238Met)
|
rs200898742
|
0.00153
|
|
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=)
|
rs187311127
|
0.00152
|
|
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr)
|
rs137939155
|
0.00150
|
|
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)
|
rs41298838
|
0.00148
|
|
NM_001271938.2(MEGF8):c.6641+9G>A
|
rs112519292
|
0.00145
|
|
NM_017780.4(CHD7):c.1419G>C (p.Gly473=)
|
rs186394299
|
0.00144
|
|
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=)
|
rs34175949
|
0.00140
|
|
NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)
|
rs71640285
|
0.00137
|
|
NM_005996.4(TBX3):c.1095T>C (p.His365=)
|
rs14175
|
0.00135
|
|
NM_006270.5(RRAS):c.568G>C (p.Val190Leu)
|
rs2230917
|
0.00128
|
|
NM_017780.4(CHD7):c.3522+13T>A
|
rs199581494
|
0.00126
|
|
NM_000346.4(SOX9):c.858C>A (p.Ile286=)
|
rs149355998
|
0.00125
|
|
NM_001271938.2(MEGF8):c.4504-14G>A
|
rs111624233
|
0.00124
|
|
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=)
|
rs143948870
|
0.00123
|
|
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg)
|
rs138124318
|
0.00121
|
|
NM_000168.6(GLI3):c.1813-15T>C
|
rs201019815
|
0.00118
|
|
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly)
|
rs146887876
|
0.00117
|
|
NM_001379200.1(TBX1):c.954C>T (p.Pro318=)
|
rs201607803
|
0.00114
|
|
NM_006270.5(RRAS):c.379C>T (p.Leu127=)
|
rs145907892
|
0.00111
|
|
NM_005996.4(TBX3):c.171G>A (p.Pro57=)
|
rs201388921
|
0.00108
|
|
NM_001379200.1(TBX1):c.1159G>A (p.Gly387Ser)
|
rs565927787
|
0.00107
|
|
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu)
|
rs151014532
|
0.00107
|
|
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met)
|
rs148860986
|
0.00105
|
|
NM_005996.4(TBX3):c.1208G>A (p.Arg403Gln)
|
rs145432134
|
0.00105
|
|
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser)
|
rs150907867
|
0.00104
|
|
NM_006939.4(SOS2):c.858+9A>G
|
rs201701595
|
0.00101
|
|
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)
|
rs142962579
|
0.00101
|
|
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=)
|
rs34527521
|
0.00100
|
|
NM_001271938.2(MEGF8):c.5344-14C>T
|
rs369531263
|
0.00097
|
|
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=)
|
rs373759775
|
0.00097
|
|
NM_001271938.2(MEGF8):c.2454C>T (p.Ser818=)
|
rs140035679
|
0.00096
|
|
NM_001271938.2(MEGF8):c.7136+10A>C
|
rs750945705
|
0.00096
|
|
NM_006939.4(SOS2):c.213+18A>T
|
rs143888968
|
0.00096
|
|
NM_000346.4(SOX9):c.1320C>T (p.Tyr440=)
|
rs80338688
|
0.00095
|
|
NM_001271938.2(MEGF8):c.3455C>T (p.Pro1152Leu)
|
rs367649187
|
0.00091
|
|
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)
|
rs143214563
|
0.00089
|
|
NM_181523.3(PIK3R1):c.427+5C>A
|
rs375394677
|
0.00088
|
|
NM_001379200.1(TBX1):c.1037-15C>T
|
rs533097263
|
0.00087
|
|
NM_000165.5(GJA1):c.837G>A (p.Ser279=)
|
rs67407537
|
0.00086
|
|
NM_006270.5(RRAS):c.573-12G>A
|
rs201690554
|
0.00086
|
|
NM_005996.4(TBX3):c.1783T>G (p.Ser595Ala)
|
rs763473739
|
0.00085
|
|
NM_000168.6(GLI3):c.501G>A (p.Thr167=)
|
rs149901929
|
0.00084
|
|
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp)
|
rs141383715
|
0.00084
|
|
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)
|
rs137961578
|
0.00083
|
|
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn)
|
rs61978638
|
0.00083
|
|
NM_181523.3(PIK3R1):c.1426-20T>G
|
rs201254436
|
0.00083
|
|
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)
|
rs146651049
|
0.00082
|
|
NM_001379200.1(TBX1):c.90G>T (p.Leu30=)
|
rs770754649
|
0.00081
|
|
NM_000168.6(GLI3):c.1386G>A (p.Lys462=)
|
rs150161845
|
0.00080
|
|
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=)
|
rs201663991
|
0.00080
|
|
NM_000052.7(ATP7A):c.3475A>G (p.Thr1159Ala)
|
rs138154934
|
0.00078
|
|
NM_001365902.3(NFIX):c.1078+20G>A
|
rs202139307
|
0.00078
|
|
NM_017780.4(CHD7):c.7165-5A>G
|
rs376076407
|
0.00078
|
|
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=)
|
rs149860242
|
0.00076
|
|
NM_017780.4(CHD7):c.3202-5T>C
|
rs147994149
|
0.00076
|
|
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro)
|
rs754894988
|
0.00075
|
|
NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala)
|
rs139192223
|
0.00074
|
|
NM_000346.4(SOX9):c.531G>A (p.Arg177=)
|
rs144824678
|
0.00071
|
|
NM_006270.5(RRAS):c.453+20C>T
|
rs117957448
|
0.00071
|
|
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu)
|
rs113660113
|
0.00071
|
|
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr)
|
rs138039591
|
0.00069
|
|
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu)
|
rs192697566
|
0.00069
|
|
NM_181523.3(PIK3R1):c.334+12T>C
|
rs189754791
|
0.00068
|
|
NM_001271938.2(MEGF8):c.8433C>T (p.His2811=)
|
rs371191311
|
0.00067
|
|
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val)
|
rs2234938
|
0.00066
|
|
NM_000168.6(GLI3):c.1647+13G>A
|
rs149955824
|
0.00066
|
|
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=)
|
rs146885610
|
0.00066
|
|
NM_001379200.1(TBX1):c.348G>A (p.Val116=)
|
rs148928907
|
0.00064
|
|
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met)
|
rs201180083
|
0.00063
|
|
NM_001379200.1(TBX1):c.840C>T (p.Thr280=)
|
rs61730282
|
0.00063
|
|
NM_006270.5(RRAS):c.243C>T (p.Ile81=)
|
rs116683551
|
0.00063
|
|
NM_080647.1(TBX1):c.-39C>T
|
rs72646950
|
0.00063
|
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
|
NM_000168.6(GLI3):c.2006C>T (p.Thr669Ile)
|
rs139108417
|
0.00061
|
|
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=)
|
rs145216125
|
0.00061
|
|
NM_001365902.3(NFIX):c.698-12C>T
|
rs372409455
|
0.00061
|
|
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg)
|
rs555945363
|
0.00061
|
|
NM_006939.4(SOS2):c.621C>T (p.Ile207=)
|
rs147109760
|
0.00061
|
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
|
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)
|
rs150526992
|
0.00060
|
|
NM_000346.4(SOX9):c.686-8del
|
rs564339518
|
0.00060
|
|
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg)
|
rs202039332
|
0.00060
|
|
NM_017780.4(CHD7):c.2835+8T>C
|
rs202141372
|
0.00060
|
|
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala)
|
rs952890575
|
0.00059
|
|
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)
|
rs139781067
|
0.00058
|
|
NM_001271938.2(MEGF8):c.3843G>A (p.Arg1281=)
|
rs148792547
|
0.00058
|
|
NM_006270.5(RRAS):c.154-4C>G
|
rs372925843
|
0.00057
|
|
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=)
|
rs186628513
|
0.00056
|
|
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)
|
rs150440590
|
0.00056
|
|
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met)
|
rs73033442
|
0.00055
|
|
NM_006270.5(RRAS):c.174C>T (p.Tyr58=)
|
rs145282813
|
0.00055
|
|
NM_017780.4(CHD7):c.5300+8C>T
|
rs151322460
|
0.00055
|
|
NM_006939.4(SOS2):c.700C>T (p.Leu234=)
|
rs145848231
|
0.00053
|
|
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=)
|
rs34225188
|
0.00052
|
|
NM_000165.5(GJA1):c.1128G>A (p.Arg376=)
|
rs145215218
|
0.00051
|
|
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His)
|
rs141153248
|
0.00051
|
|
NM_017780.4(CHD7):c.2829G>A (p.Glu943=)
|
rs374877439
|
0.00051
|
|
NM_001379200.1(TBX1):c.540-8C>T
|
rs72646960
|
0.00049
|
|
NM_000052.7(ATP7A):c.3801+6T>C
|
rs181665434
|
0.00048
|
|
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=)
|
rs117439608
|
0.00048
|
|
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=)
|
rs202020722
|
0.00048
|
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
|
NM_000168.6(GLI3):c.1959G>A (p.Pro653=)
|
rs148226583
|
0.00046
|
|
NM_005996.4(TBX3):c.2145G>T (p.Pro715=)
|
rs142609038
|
0.00046
|
|
NM_006939.4(SOS2):c.1071A>G (p.Gln357=)
|
rs111961549
|
0.00046
|
|
NM_006939.4(SOS2):c.346-10C>G
|
rs146395803
|
0.00046
|
|
NM_000346.4(SOX9):c.993G>A (p.Ala331=)
|
rs761105285
|
0.00045
|
|
NM_001271938.2(MEGF8):c.281C>T (p.Pro94Leu)
|
rs570125469
|
0.00045
|
|
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala)
|
rs150752193
|
0.00045
|
|
NM_001365902.3(NFIX):c.183G>A (p.Leu61=)
|
rs369196245
|
0.00044
|
|
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu)
|
rs146582871
|
0.00043
|
|
NM_000346.4(SOX9):c.1059G>A (p.Pro353=)
|
rs936943624
|
0.00043
|
|
NM_000346.4(SOX9):c.991G>A (p.Ala331Thr)
|
rs199887368
|
0.00043
|
|
NM_005996.4(TBX3):c.1290C>T (p.Gly430=)
|
rs369999628
|
0.00043
|
|
NM_017780.4(CHD7):c.360C>T (p.Gly120=)
|
rs375438732
|
0.00043
|
|
NM_006939.4(SOS2):c.2162-10C>T
|
rs375702667
|
0.00042
|
|
NM_001271938.2(MEGF8):c.6274-9C>G
|
rs373417416
|
0.00041
|
|
NM_006939.4(SOS2):c.2317G>C (p.Asp773His)
|
rs114711076
|
0.00041
|
|
NM_006939.4(SOS2):c.2959-20T>C
|
rs375042033
|
0.00041
|
|
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys)
|
rs138133010
|
0.00041
|
|
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro)
|
rs146802994
|
0.00041
|
|
NM_006939.4(SOS2):c.969+20T>G
|
rs559272877
|
0.00041
|
|
NM_005996.4(TBX3):c.1381C>T (p.Pro461Ser)
|
rs537957080
|
0.00040
|
|
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp)
|
rs141604342
|
0.00040
|
|
NM_017780.4(CHD7):c.2751G>A (p.Thr917=)
|
rs369429961
|
0.00040
|
|
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)
|
rs201788154
|
0.00039
|
|
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)
|
rs140048578
|
0.00039
|
|
NM_000168.6(GLI3):c.4654A>C (p.Met1552Leu)
|
rs151254859
|
0.00039
|
|
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg)
|
rs151116615
|
0.00039
|
|
NM_001271938.2(MEGF8):c.6222G>A (p.Lys2074=)
|
rs150834651
|
0.00039
|
|
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=)
|
rs148940743
|
0.00038
|
|
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr)
|
rs143166880
|
0.00038
|
|
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)
|
rs371939448
|
0.00037
|
|
NM_000168.6(GLI3):c.3889C>T (p.Leu1297=)
|
rs145618226
|
0.00037
|
|
NM_000346.4(SOX9):c.1033C>T (p.Pro345Ser)
|
rs768818630
|
0.00037
|
|
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu)
|
rs143508185
|
0.00037
|
|
NM_001271938.2(MEGF8):c.7089C>T (p.Cys2363=)
|
rs138235390
|
0.00037
|
|
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)
|
rs121908171
|
0.00037
|
|
NM_016277.5(RAB23):c.482-13C>G
|
rs372666007
|
0.00037
|
|
NM_000052.7(ATP7A):c.610+19A>G
|
rs367724628
|
0.00036
|
|
NM_000052.7(ATP7A):c.864T>C (p.Cys288=)
|
rs142521666
|
0.00036
|
|
NM_005996.4(TBX3):c.1625C>T (p.Ala542Val)
|
rs201325654
|
0.00036
|
|
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=)
|
rs199828744
|
0.00036
|
|
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg)
|
rs181129823
|
0.00035
|
|
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=)
|
rs140094033
|
0.00035
|
|
NM_017780.4(CHD7):c.1666-15A>G
|
rs372978951
|
0.00035
|
|
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser)
|
rs201319489
|
0.00035
|
|
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr)
|
rs138641637
|
0.00035
|
|
NM_001271938.2(MEGF8):c.390G>A (p.Leu130=)
|
rs377093238
|
0.00034
|
|
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn)
|
rs200387871
|
0.00034
|
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
|
NM_001379200.1(TBX1):c.540-16C>T
|
rs200786105
|
0.00033
|
|
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile)
|
rs201653177
|
0.00033
|
|
NM_181523.3(PIK3R1):c.1185A>G (p.Pro395=)
|
rs149905863
|
0.00033
|
|
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=)
|
rs200965852
|
0.00032
|
|
NM_000346.4(SOX9):c.1503C>T (p.Pro501=)
|
rs139015010
|
0.00032
|
|
NM_017780.4(CHD7):c.1958C>T (p.Pro653Leu)
|
rs200536932
|
0.00032
|
|
NM_000168.6(GLI3):c.211G>A (p.Val71Ile)
|
rs143843875
|
0.00031
|
|
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met)
|
rs372990477
|
0.00031
|
|
NM_001271938.2(MEGF8):c.4264G>A (p.Val1422Met)
|
rs141221243
|
0.00031
|
|
NM_001271938.2(MEGF8):c.5512A>G (p.Met1838Val)
|
rs200501111
|
0.00031
|
|
NM_001271938.2(MEGF8):c.8271C>T (p.Pro2757=)
|
rs755400663
|
0.00031
|
|
NM_001365902.3(NFIX):c.1284G>A (p.Pro428=)
|
rs761114067
|
0.00031
|
|
NM_005996.4(TBX3):c.1800C>T (p.Ser600=)
|
rs528719787
|
0.00031
|
|
NM_006939.4(SOS2):c.2640A>G (p.Ser880=)
|
rs146730136
|
0.00031
|
|
NM_181523.3(PIK3R1):c.1020-3C>T
|
rs200653607
|
0.00031
|
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
|
NM_017780.4(CHD7):c.6483T>A (p.His2161Gln)
|
rs185505138
|
0.00030
|
|
NM_001271938.2(MEGF8):c.5018A>G (p.Tyr1673Cys)
|
rs143215498
|
0.00029
|
|
NM_006270.5(RRAS):c.345-4G>A
|
rs377672475
|
0.00029
|
|
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser)
|
rs140995728
|
0.00029
|
|
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser)
|
rs144370841
|
0.00029
|
|
NM_012431.3(SEMA3E):c.999-12T>C
|
rs373951907
|
0.00029
|
|
NM_017780.4(CHD7):c.3989+9C>T
|
rs373206209
|
0.00029
|
|
NM_017780.4(CHD7):c.4014C>T (p.Gly1338=)
|
rs188679907
|
0.00029
|
|
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=)
|
rs41265246
|
0.00029
|
|
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)
|
rs201083157
|
0.00029
|
|
NM_017780.4(CHD7):c.8672A>G (p.Asn2891Ser)
|
rs202039728
|
0.00029
|
|
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=)
|
rs140838569
|
0.00028
|
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
|
NM_003106.4(SOX2):c.561T>C (p.Asn187=)
|
rs147606682
|
0.00028
|
|
NM_017780.4(CHD7):c.444G>A (p.Arg148=)
|
rs376455384
|
0.00028
|
|
NM_181523.3(PIK3R1):c.917-3C>T
|
rs566631081
|
0.00028
|
|
NM_000052.7(ATP7A):c.282G>A (p.Ala94=)
|
rs370700841
|
0.00027
|
|
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)
|
rs199875457
|
0.00027
|
|
NM_000168.6(GLI3):c.3987C>T (p.Gly1329=)
|
rs145859702
|
0.00027
|
|
NM_001271938.2(MEGF8):c.6395G>A (p.Arg2132Gln)
|
rs201140958
|
0.00027
|
|
NM_001365902.3(NFIX):c.117G>A (p.Lys39=)
|
rs148229471
|
0.00027
|
|
NM_006270.5(RRAS):c.454-9T>C
|
rs1490597941
|
0.00027
|
|
NM_006939.4(SOS2):c.294A>G (p.Lys98=)
|
rs149713664
|
0.00027
|
|
NM_006939.4(SOS2):c.315G>T (p.Leu105=)
|
rs141575190
|
0.00027
|
|
NM_000165.5(GJA1):c.724G>A (p.Gly242Arg)
|
rs138386744
|
0.00026
|
|
NM_000168.6(GLI3):c.1242+8G>A
|
rs75925934
|
0.00026
|
|
NM_000168.6(GLI3):c.315C>T (p.Arg105=)
|
rs140872736
|
0.00026
|
|
NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=)
|
rs373710119
|
0.00026
|
|
NM_001271938.2(MEGF8):c.4041C>T (p.Phe1347=)
|
rs148895205
|
0.00026
|
|
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)
|
rs201993443
|
0.00026
|
|
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln)
|
rs555522870
|
0.00026
|
|
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)
|
rs373359206
|
0.00026
|
|
NM_016277.5(RAB23):c.51T>C (p.Asn17=)
|
rs141279756
|
0.00026
|
|
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser)
|
rs199614124
|
0.00026
|
|
NM_181523.3(PIK3R1):c.917-1513G>T
|
rs144312303
|
0.00026
|
|
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)
|
rs782268170
|
0.00025
|
|
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln)
|
rs782349186
|
0.00025
|
|
NM_000168.6(GLI3):c.124+10A>G
|
rs112576935
|
0.00025
|
|
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp)
|
rs145069572
|
0.00025
|
|
NM_001271938.2(MEGF8):c.1275T>C (p.Leu425=)
|
rs370779185
|
0.00025
|
|
NM_001271938.2(MEGF8):c.3428C>T (p.Ser1143Leu)
|
rs368693886
|
0.00025
|
|
NM_001271938.2(MEGF8):c.3625C>T (p.Arg1209Trp)
|
rs372257661
|
0.00025
|
|
NM_000052.7(ATP7A):c.1510G>A (p.Ala504Thr)
|
rs781786942
|
0.00024
|
|
NM_001271938.2(MEGF8):c.262G>A (p.Val88Met)
|
rs372955721
|
0.00024
|
|
NM_001379200.1(TBX1):c.705C>T (p.Asn235=)
|
rs149453540
|
0.00024
|
|
NM_012431.3(SEMA3E):c.1522G>A (p.Ala508Thr)
|
rs758060734
|
0.00024
|
|
NM_017780.4(CHD7):c.1737G>A (p.Gln579=)
|
rs747922099
|
0.00024
|
|
NM_017780.4(CHD7):c.6965A>G (p.Asn2322Ser)
|
rs201470035
|
0.00024
|
|
NM_000168.6(GLI3):c.30C>T (p.Thr10=)
|
rs148154157
|
0.00023
|
|
NM_000168.6(GLI3):c.474-4C>T
|
rs74536326
|
0.00023
|
|
NM_001271938.2(MEGF8):c.8373C>T (p.Pro2791=)
|
rs374532854
|
0.00023
|
|
NM_006270.5(RRAS):c.345-19C>G
|
rs369700575
|
0.00023
|
|
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)
|
rs199675568
|
0.00023
|
|
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=)
|
rs370385319
|
0.00023
|
|
NM_000052.7(ATP7A):c.177A>G (p.Pro59=)
|
rs142463642
|
0.00022
|
|
NM_001271938.2(MEGF8):c.8133G>A (p.Pro2711=)
|
rs370578585
|
0.00022
|
|
NM_005996.4(TBX3):c.1974C>T (p.Ala658=)
|
rs370307666
|
0.00022
|
|
NM_006939.4(SOS2):c.3075+19C>T
|
rs200459376
|
0.00022
|
|
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr)
|
rs201423234
|
0.00022
|
|
NM_000168.6(GLI3):c.1028+3A>T
|
rs368499795
|
0.00021
|
|
NM_000346.4(SOX9):c.42G>A (p.Gln14=)
|
rs769605571
|
0.00021
|
|
NM_003106.4(SOX2):c.651G>T (p.Met217Ile)
|
rs199887134
|
0.00021
|
|
NM_005996.4(TBX3):c.700A>G (p.Ile234Val)
|
rs117465019
|
0.00021
|
|
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=)
|
rs61743849
|
0.00021
|
|
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)
|
rs139876661
|
0.00021
|
|
NM_181523.3(PIK3R1):c.1920G>A (p.Gly640=)
|
rs61749602
|
0.00021
|
|
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val)
|
rs372318616
|
0.00020
|
|
NM_000052.7(ATP7A):c.2607A>G (p.Val869=)
|
rs61053012
|
0.00020
|
|
NM_000165.5(GJA1):c.1050A>G (p.Gly350=)
|
rs147277470
|
0.00020
|
|
NM_001271938.2(MEGF8):c.740-6C>T
|
rs372546741
|
0.00020
|
|
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)
|
rs746812421
|
0.00020
|
|
NM_001379200.1(TBX1):c.1242C>T (p.Pro414=)
|
rs200135498
|
0.00020
|
|
NM_006147.4(IRF6):c.1060G>A (p.Asp354Asn)
|
rs200808685
|
0.00020
|
|
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln)
|
rs766259420
|
0.00020
|
|
NM_006939.4(SOS2):c.2712A>G (p.Glu904=)
|
rs143332839
|
0.00020
|
|
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp)
|
rs150393358
|
0.00020
|
|
NM_181523.3(PIK3R1):c.634+6T>C
|
rs199530427
|
0.00020
|
|
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln)
|
rs104893965
|
0.00019
|
|
NM_000168.6(GLI3):c.3117G>A (p.Ala1039=)
|
rs75796620
|
0.00019
|
|
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)
|
rs148043302
|
0.00019
|
|
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr)
|
rs566929141
|
0.00019
|
|
NM_001271938.2(MEGF8):c.5492C>T (p.Ser1831Leu)
|
rs139959427
|
0.00019
|
|
NM_001271938.2(MEGF8):c.6765C>T (p.Cys2255=)
|
rs145630132
|
0.00019
|
|
NM_005996.4(TBX3):c.1149C>G (p.Pro383=)
|
rs372996166
|
0.00019
|
|
NM_005996.4(TBX3):c.1827C>T (p.Leu609=)
|
rs777552683
|
0.00019
|
|
NM_006939.4(SOS2):c.2010A>G (p.Ala670=)
|
rs147081547
|
0.00019
|
|
NM_017780.4(CHD7):c.1473C>T (p.Ile491=)
|
rs182294889
|
0.00019
|
|
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=)
|
rs371898908
|
0.00019
|
|
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)
|
rs376934539
|
0.00019
|
|
NM_017780.4(CHD7):c.8740G>A (p.Gly2914Arg)
|
rs187751757
|
0.00019
|
|
NM_181523.3(PIK3R1):c.563G>A (p.Arg188His)
|
rs148059720
|
0.00019
|
|
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr)
|
rs201225704
|
0.00018
|
|
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp)
|
rs372489000
|
0.00018
|
|
NM_000165.5(GJA1):c.327A>G (p.Lys109=)
|
rs145279962
|
0.00018
|
|
NM_000168.6(GLI3):c.565C>T (p.Pro189Ser)
|
rs201940674
|
0.00018
|
|
NM_000168.6(GLI3):c.567C>T (p.Pro189=)
|
rs371984494
|
0.00018
|
|
NM_000168.6(GLI3):c.954C>T (p.Val318=)
|
rs142968143
|
0.00018
|
|
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val)
|
rs142042363
|
0.00018
|
|
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
|
rs142863840
|
0.00018
|
|
NM_006939.4(SOS2):c.3076-17A>T
|
rs200184350
|
0.00018
|
|
NM_000165.5(GJA1):c.1039C>A (p.Leu347Ile)
|
rs184583316
|
0.00017
|
|
NM_000165.5(GJA1):c.1132G>A (p.Asp378Asn)
|
rs553879521
|
0.00017
|
|
NM_000165.5(GJA1):c.309A>G (p.Glu103=)
|
rs544249730
|
0.00017
|
|
NM_000165.5(GJA1):c.411C>T (p.Tyr137=)
|
rs201088822
|
0.00017
|
|
NM_001271938.2(MEGF8):c.5937G>A (p.Arg1979=)
|
rs200310970
|
0.00017
|
|
NM_017780.4(CHD7):c.6103+6T>C
|
rs371509438
|
0.00017
|
|
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser)
|
rs370972259
|
0.00017
|
|
NM_181523.3(PIK3R1):c.1020-19T>C
|
rs373504515
|
0.00017
|
|
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)
|
rs377714939
|
0.00016
|
|
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)
|
rs376725882
|
0.00016
|
|
NM_000168.6(GLI3):c.2966G>T (p.Arg989Leu)
|
rs548918938
|
0.00016
|
|
NM_000168.6(GLI3):c.636G>A (p.Ser212=)
|
rs369422937
|
0.00016
|
|
NM_001271938.2(MEGF8):c.1877G>A (p.Arg626Gln)
|
rs773886995
|
0.00016
|
|
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu)
|
rs562936594
|
0.00016
|
|
NM_001271938.2(MEGF8):c.4011G>A (p.Thr1337=)
|
rs149716961
|
0.00016
|
|
NM_001271938.2(MEGF8):c.5559G>A (p.Leu1853=)
|
rs36016565
|
0.00016
|
|
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp)
|
rs376189812
|
0.00016
|
|
NM_006270.5(RRAS):c.516G>C (p.Ser172=)
|
rs199924228
|
0.00016
|
|
NM_006939.4(SOS2):c.2385-3T>C
|
rs374402293
|
0.00016
|
|
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)
|
rs148595463
|
0.00016
|
|
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=)
|
rs757610572
|
0.00016
|
|
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile)
|
rs200779956
|
0.00016
|
|
NM_016277.5(RAB23):c.346A>G (p.Thr116Ala)
|
rs138803099
|
0.00016
|
|
NM_016277.5(RAB23):c.552G>A (p.Thr184=)
|
rs201731610
|
0.00016
|
|
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser)
|
rs200644351
|
0.00016
|
|
NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp)
|
rs369542138
|
0.00016
|
|
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=)
|
rs181927766
|
0.00016
|
|
NM_017780.4(CHD7):c.843A>G (p.Gln281=)
|
rs764411605
|
0.00016
|
|
NM_000052.7(ATP7A):c.1737A>G (p.Val579=)
|
rs189353691
|
0.00015
|
|
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu)
|
rs149576827
|
0.00015
|
|
NM_000346.4(SOX9):c.987G>A (p.Ala329=)
|
rs200484258
|
0.00015
|
|
NM_001271938.2(MEGF8):c.2987+11del
|
rs755747202
|
0.00015
|
|
NM_001271938.2(MEGF8):c.351+4A>G
|
rs753271808
|
0.00015
|
|
NM_001271938.2(MEGF8):c.4434C>T (p.Pro1478=)
|
rs371090576
|
0.00015
|
|
NM_001379200.1(TBX1):c.913C>A (p.Arg305=)
|
rs751339103
|
0.00015
|
|
NM_006270.5(RRAS):c.255G>A (p.Ala85=)
|
rs142801791
|
0.00015
|
|
NM_006270.5(RRAS):c.600G>A (p.Pro200=)
|
rs183538580
|
0.00015
|
|
NM_006912.6(RIT1):c.237+10C>A
|
rs367785615
|
0.00015
|
|
NM_006939.4(SOS2):c.2057+19T>A
|
rs544924513
|
0.00015
|
|
NM_012431.3(SEMA3E):c.1855C>T (p.Arg619Cys)
|
rs143631464
|
0.00015
|
|
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=)
|
rs376020564
|
0.00015
|
|
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=)
|
rs375204972
|
0.00015
|
|
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=)
|
rs17847317
|
0.00015
|
|
NM_181523.3(PIK3R1):c.334+18G>A
|
rs181402217
|
0.00015
|
|
NC_000003.12:g.181712424G>A
|
rs727504169
|
0.00014
|
|
NM_000052.7(ATP7A):c.312A>G (p.Gln104=)
|
rs146414063
|
0.00014
|
|
NM_000052.7(ATP7A):c.3153C>T (p.His1051=)
|
rs142998552
|
0.00014
|
|
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln)
|
rs2227885
|
0.00014
|
|
NM_000165.5(GJA1):c.432G>A (p.Lys144=)
|
rs201994305
|
0.00014
|
|
NM_000168.6(GLI3):c.1222G>A (p.Gly408Ser)
|
rs200411081
|
0.00014
|
|
NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly)
|
rs143942705
|
0.00014
|
|
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu)
|
rs1359183911
|
0.00014
|
|
NM_000346.4(SOX9):c.930C>T (p.His310=)
|
rs138423956
|
0.00014
|
|
NM_001271938.2(MEGF8):c.2537C>T (p.Ser846Leu)
|
rs148207079
|
0.00014
|
|
NM_001271938.2(MEGF8):c.3451G>A (p.Ala1151Thr)
|
rs373631162
|
0.00014
|
|
NM_001271938.2(MEGF8):c.4752G>C (p.Leu1584=)
|
rs541175277
|
0.00014
|
|
NM_001271938.2(MEGF8):c.5343+9T>G
|
rs374168560
|
0.00014
|
|
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln)
|
rs139601509
|
0.00014
|
|
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln)
|
rs918788695
|
0.00014
|
|
NM_003106.4(SOX2):c.869G>C (p.Ser290Thr)
|
rs779686992
|
0.00014
|
|
NM_005996.4(TBX3):c.1250A>G (p.His417Arg)
|
rs375076522
|
0.00014
|
|
NM_005996.4(TBX3):c.1768G>A (p.Ala590Thr)
|
rs751628989
|
0.00014
|
|
NM_005996.4(TBX3):c.1790C>T (p.Ala597Val)
|
rs200821102
|
0.00014
|
|
NM_006270.5(RRAS):c.344+6_344+7del
|
rs755223611
|
0.00014
|
|
NM_006270.5(RRAS):c.371C>T (p.Thr124Met)
|
rs369508242
|
0.00014
|
|
NM_006939.4(SOS2):c.2385-12T>C
|
rs372154027
|
0.00014
|
|
NM_006939.4(SOS2):c.2668-13T>C
|
rs368749459
|
0.00014
|
|
NM_006939.4(SOS2):c.2786-6T>A
|
rs552609367
|
0.00014
|
|
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile)
|
rs190791287
|
0.00014
|
|
NM_012431.3(SEMA3E):c.1892G>A (p.Arg631Lys)
|
rs553630404
|
0.00014
|
|
NM_017780.4(CHD7):c.1326C>A (p.Ala442=)
|
rs370097651
|
0.00014
|
|
NM_017780.4(CHD7):c.4645-9T>C
|
rs766575601
|
0.00014
|
|
NM_017780.4(CHD7):c.6775G>A (p.Ala2259Thr)
|
rs200806228
|
0.00014
|
|
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=)
|
rs141535376
|
0.00013
|
|
NM_000165.5(GJA1):c.706G>A (p.Val236Ile)
|
rs148384161
|
0.00013
|
|
NM_000165.5(GJA1):c.784T>C (p.Ser262Pro)
|
rs149442143
|
0.00013
|
|
NM_000168.6(GLI3):c.168C>T (p.Asn56=)
|
rs376845825
|
0.00013
|
|
NM_001271938.2(MEGF8):c.1933+10C>T
|
rs763206386
|
0.00013
|
|
NM_001271938.2(MEGF8):c.3310C>T (p.Arg1104Trp)
|
rs370522595
|
0.00013
|
|
NM_001271938.2(MEGF8):c.351+10G>A
|
rs374212597
|
0.00013
|
|
NM_001271938.2(MEGF8):c.7875C>T (p.Pro2625=)
|
rs572813671
|
0.00013
|
|
NM_001365902.3(NFIX):c.1026G>A (p.Pro342=)
|
rs774838479
|
0.00013
|
|
NM_001379200.1(TBX1):c.594G>A (p.Thr198=)
|
rs138724943
|
0.00013
|
|
NM_003106.4(SOX2):c.243T>G (p.Leu81=)
|
rs141391454
|
0.00013
|
|
NM_003106.4(SOX2):c.54G>C (p.Ser18=)
|
rs757913217
|
0.00013
|
|
NM_003106.4(SOX2):c.571G>A (p.Ala191Thr)
|
rs104893808
|
0.00013
|
|
NM_006939.4(SOS2):c.195G>A (p.Arg65=)
|
rs1803661
|
0.00013
|
|
NM_006939.4(SOS2):c.2328A>G (p.Thr776=)
|
rs116162949
|
0.00013
|
|
NM_006939.4(SOS2):c.2625A>T (p.Ala875=)
|
rs761442415
|
0.00013
|
|
NM_012431.3(SEMA3E):c.155C>G (p.Pro52Arg)
|
rs370543242
|
0.00013
|
|
NM_012431.3(SEMA3E):c.1668-16A>G
|
rs371322188
|
0.00013
|
|
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr)
|
rs150655349
|
0.00013
|
|
NM_017780.4(CHD7):c.1423A>G (p.Met475Val)
|
rs773039925
|
0.00013
|
|
NM_017780.4(CHD7):c.240G>A (p.Met80Ile)
|
rs199675125
|
0.00013
|
|
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)
|
rs398124317
|
0.00013
|
|
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His)
|
rs377535841
|
0.00013
|
|
NM_017780.4(CHD7):c.5607+11G>A
|
rs369304706
|
0.00013
|
|
NM_017780.4(CHD7):c.7119C>T (p.Ser2373=)
|
rs201046385
|
0.00013
|
|
NM_017780.4(CHD7):c.8196C>T (p.Ala2732=)
|
rs375800664
|
0.00013
|
|
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met)
|
rs149523862
|
0.00012
|
|
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)
|
rs374162669
|
0.00012
|
|
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)
|
rs539177302
|
0.00012
|
|
NM_000052.7(ATP7A):c.3210C>T (p.His1070=)
|
rs185917115
|
0.00012
|
|
NM_000346.4(SOX9):c.1167G>A (p.Pro389=)
|
rs147286621
|
0.00012
|
|
NM_000346.4(SOX9):c.711A>C (p.Pro237=)
|
rs1305561578
|
0.00012
|
|
NM_001271938.2(MEGF8):c.7047C>T (p.Ala2349=)
|
rs369359832
|
0.00012
|
|
NM_005996.4(TBX3):c.789A>G (p.Ala263=)
|
rs754665748
|
0.00012
|
|
NM_006912.6(RIT1):c.38G>A (p.Ser13Asn)
|
rs145034964
|
0.00012
|
|
NM_006939.4(SOS2):c.702G>A (p.Leu234=)
|
rs200208472
|
0.00012
|
|
NM_017780.4(CHD7):c.1203A>G (p.Ala401=)
|
rs147960212
|
0.00012
|
|
NM_017780.4(CHD7):c.1245G>A (p.Pro415=)
|
rs745900311
|
0.00012
|
|
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=)
|
rs377723386
|
0.00012
|
|
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=)
|
rs534427466
|
0.00012
|
|
NM_000052.7(ATP7A):c.3659-12C>T
|
rs1012193744
|
0.00011
|
|
NM_000165.5(GJA1):c.189T>C (p.Asn63=)
|
rs139688042
|
0.00011
|
|
NM_000165.5(GJA1):c.456G>A (p.Leu152=)
|
rs72548741
|
0.00011
|
|
NM_000168.6(GLI3):c.367+20G>A
|
rs371365628
|
0.00011
|
|
NM_000168.6(GLI3):c.411T>C (p.Ile137=)
|
rs200203051
|
0.00011
|
|
NM_000346.4(SOX9):c.591C>T (p.His197=)
|
rs146754673
|
0.00011
|
|
NM_001271938.2(MEGF8):c.278C>G (p.Ser93Cys)
|
rs200910137
|
0.00011
|
|
NM_001271938.2(MEGF8):c.3798C>T (p.Arg1266=)
|
rs750232469
|
0.00011
|
|
NM_001271938.2(MEGF8):c.4662G>A (p.Ala1554=)
|
rs759312023
|
0.00011
|
|
NM_001271938.2(MEGF8):c.4733G>A (p.Arg1578His)
|
rs759275421
|
0.00011
|
|
NM_001271938.2(MEGF8):c.7742C>T (p.Thr2581Met)
|
rs760894129
|
0.00011
|
|
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=)
|
rs199681302
|
0.00011
|
|
NM_001365902.3(NFIX):c.1236G>A (p.Ser412=)
|
rs367955217
|
0.00011
|
|
NM_001365902.3(NFIX):c.1408G>A (p.Ala470Thr)
|
rs372257657
|
0.00011
|
|
NM_001379200.1(TBX1):c.936-8G>T
|
rs753380966
|
0.00011
|
|
NM_001379200.1(TBX1):c.96C>T (p.Ala32=)
|
rs931429492
|
0.00011
|
|
NM_003106.4(SOX2):c.231C>A (p.Ala77=)
|
rs201190086
|
0.00011
|
|
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg)
|
rs369588682
|
0.00011
|
|
NM_006270.5(RRAS):c.81C>T (p.Ser27=)
|
rs375821724
|
0.00011
|
|
NM_012431.3(SEMA3E):c.1738G>A (p.Asp580Asn)
|
rs201699077
|
0.00011
|
|
NM_017780.4(CHD7):c.2109T>G (p.Pro703=)
|
rs192950146
|
0.00011
|
|
NM_017780.4(CHD7):c.2273G>A (p.Arg758His)
|
rs202208393
|
0.00011
|
|
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=)
|
rs370471177
|
0.00011
|
|
NM_017780.4(CHD7):c.4146C>T (p.Ile1382=)
|
rs372318215
|
0.00011
|
|
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=)
|
rs368093874
|
0.00011
|
|
NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser)
|
rs368224943
|
0.00011
|
|
NM_017780.4(CHD7):c.8478C>T (p.Asn2826=)
|
rs202076455
|
0.00011
|
|
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=)
|
rs538021528
|
0.00011
|
|
NM_181523.3(PIK3R1):c.335-17G>T
|
rs201772482
|
0.00011
|
|
NM_181523.3(PIK3R1):c.716C>T (p.Thr239Met)
|
rs141981005
|
0.00011
|
|
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)
|
rs368622356
|
0.00010
|
|
NM_000165.5(GJA1):c.825C>T (p.Thr275=)
|
rs777305726
|
0.00010
|
|
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)
|
rs140479817
|
0.00010
|
|
NM_000168.6(GLI3):c.3790G>A (p.Ala1264Thr)
|
rs141285034
|
0.00010
|
|
NM_000168.6(GLI3):c.3903A>G (p.Pro1301=)
|
rs758771584
|
0.00010
|
|
NM_000346.4(SOX9):c.477G>A (p.Glu159=)
|
rs369677666
|
0.00010
|
|
NM_001271938.2(MEGF8):c.6469G>A (p.Gly2157Ser)
|
rs549617171
|
0.00010
|
|
NM_001271938.2(MEGF8):c.8367C>T (p.Gly2789=)
|
rs764014679
|
0.00010
|
|
NM_001365902.3(NFIX):c.1143C>T (p.Ser381=)
|
rs777733912
|
0.00010
|
|
NM_001379200.1(TBX1):c.915G>C (p.Arg305=)
|
rs146109202
|
0.00010
|
|
NM_006147.4(IRF6):c.668-4G>T
|
rs376679285
|
0.00010
|
|
NM_006939.4(SOS2):c.1868G>A (p.Arg623His)
|
rs138459515
|
0.00010
|
|
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala)
|
rs550680554
|
0.00010
|
|
NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)
|
rs141214900
|
0.00010
|
|
NM_012431.3(SEMA3E):c.1739A>G (p.Asp580Gly)
|
rs754158945
|
0.00010
|
|
NM_012431.3(SEMA3E):c.2152G>A (p.Gly718Ser)
|
rs148649507
|
0.00010
|
|
NM_016277.5(RAB23):c.675G>A (p.Lys225=)
|
rs781622209
|
0.00010
|
|
NM_017780.4(CHD7):c.303G>A (p.Pro101=)
|
rs373868449
|
0.00010
|
|
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=)
|
rs372755547
|
0.00010
|
|
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg)
|
rs200907656
|
0.00010
|
|
NM_181523.3(PIK3R1):c.1017G>A (p.Ser339=)
|
rs781406681
|
0.00010
|
|
NM_181523.3(PIK3R1):c.1995C>T (p.Gly665=)
|
rs201618039
|
0.00010
|
|
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)
|
rs201999500
|
0.00009
|
|
NM_000052.7(ATP7A):c.2407-14G>T
|
rs782184126
|
0.00009
|
|
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His)
|
rs367775730
|
0.00009
|
|
NM_000052.7(ATP7A):c.3623G>T (p.Arg1208Ile)
|
rs146392305
|
0.00009
|
|
NM_000165.5(GJA1):c.612G>A (p.Thr204=)
|
rs766082259
|
0.00009
|
|
NM_000168.6(GLI3):c.288C>T (p.His96=)
|
rs200905584
|
0.00009
|
|
NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe)
|
rs746534141
|
0.00009
|
|
NM_000168.6(GLI3):c.3893C>T (p.Pro1298Leu)
|
rs182571462
|
0.00009
|
|
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=)
|
rs145513625
|
0.00009
|
|
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)
|
rs140772904
|
0.00009
|
|
NM_000346.4(SOX9):c.717C>T (p.Thr239=)
|
rs370713128
|
0.00009
|
|
NM_000346.4(SOX9):c.921G>C (p.Pro307=)
|
rs779558292
|
0.00009
|
|
NM_001271938.2(MEGF8):c.1572C>T (p.Ser524=)
|
rs375943387
|
0.00009
|
|
NM_001271938.2(MEGF8):c.2436G>A (p.Ser812=)
|
rs199938628
|
0.00009
|
|
NM_001271938.2(MEGF8):c.2644G>A (p.Gly882Arg)
|
rs147068787
|
0.00009
|
|
NM_001271938.2(MEGF8):c.2649T>C (p.Asp883=)
|
rs757551016
|
0.00009
|
|
NM_001271938.2(MEGF8):c.3760C>T (p.Arg1254Trp)
|
rs200195292
|
0.00009
|
|
NM_001271938.2(MEGF8):c.6570C>T (p.Asn2190=)
|
rs767893103
|
0.00009
|
|
NM_001271938.2(MEGF8):c.7407G>A (p.Ala2469=)
|
rs111595088
|
0.00009
|
|
NM_001271938.2(MEGF8):c.8169C>T (p.Pro2723=)
|
rs138179740
|
0.00009
|
|
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)
|
rs764197422
|
0.00009
|
|
NM_001379200.1(TBX1):c.284C>T (p.Pro95Leu)
|
rs775295536
|
0.00009
|
|
NM_001379200.1(TBX1):c.539+7G>A
|
rs780062926
|
0.00009
|
|
NM_001379200.1(TBX1):c.540-15C>G
|
rs45561334
|
0.00009
|
|
NM_001379200.1(TBX1):c.711C>T (p.His237=)
|
rs200021644
|
0.00009
|
|
NM_006147.4(IRF6):c.711C>T (p.Tyr237=)
|
rs201940391
|
0.00009
|
|
NM_006147.4(IRF6):c.9C>T (p.Leu3=)
|
rs78599614
|
0.00009
|
|
NM_006270.5(RRAS):c.540C>T (p.Asp180=)
|
rs781054110
|
0.00009
|
|
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)
|
rs563231684
|
0.00009
|
|
NM_006939.4(SOS2):c.1934+11T>C
|
rs375487320
|
0.00009
|
|
NM_006939.4(SOS2):c.2520A>G (p.Ala840=)
|
rs775682587
|
0.00009
|
|
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)
|
rs561495878
|
0.00009
|
|
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=)
|
rs201696354
|
0.00009
|
|
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala)
|
rs61755576
|
0.00009
|
|
NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)
|
rs148747022
|
0.00009
|
|
NM_006939.4(SOS2):c.88-10T>C
|
rs777771034
|
0.00009
|
|
NM_012431.3(SEMA3E):c.1366+11G>A
|
rs369202554
|
0.00009
|
|
NM_012431.3(SEMA3E):c.511C>T (p.Pro171Ser)
|
rs145249878
|
0.00009
|
|
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=)
|
rs766680673
|
0.00009
|
|
NM_016277.5(RAB23):c.594T>G (p.Gly198=)
|
rs151203723
|
0.00009
|
|
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)
|
rs753953205
|
0.00009
|
|
NM_017780.4(CHD7):c.2182G>C (p.Asp728His)
|
rs756365280
|
0.00009
|
|
NM_017780.4(CHD7):c.3294A>C (p.Pro1098=)
|
rs760166848
|
0.00009
|
|
NM_017780.4(CHD7):c.509C>T (p.Pro170Leu)
|
rs369545523
|
0.00009
|
|
NM_017780.4(CHD7):c.5895-67A>G
|
rs528151295
|
0.00009
|
|
NM_017780.4(CHD7):c.608A>G (p.His203Arg)
|
rs375277827
|
0.00009
|
|
NM_017780.4(CHD7):c.6885A>G (p.Ser2295=)
|
rs752966093
|
0.00009
|
|
NM_017780.4(CHD7):c.698G>A (p.Gly233Asp)
|
rs778249500
|
0.00009
|
|
NM_017780.4(CHD7):c.8034A>G (p.Glu2678=)
|
rs559053565
|
0.00009
|
|
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=)
|
rs148517660
|
0.00009
|
|
NM_181523.3(PIK3R1):c.249G>A (p.Ser83=)
|
rs771574512
|
0.00009
|
|
NM_181523.3(PIK3R1):c.534T>C (p.Asp178=)
|
rs376359156
|
0.00009
|
|
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly)
|
rs782196306
|
0.00008
|
|
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr)
|
rs781817601
|
0.00008
|
|
NM_000052.7(ATP7A):c.1947-3A>G
|
rs782237008
|
0.00008
|
|
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln)
|
rs147848649
|
0.00008
|
|
NM_000052.7(ATP7A):c.922A>G (p.Ile308Val)
|
rs782351352
|
0.00008
|
|
NM_000168.6(GLI3):c.1182A>G (p.Pro394=)
|
rs748606221
|
0.00008
|
|
NM_000168.6(GLI3):c.1728C>T (p.Tyr576=)
|
rs35128755
|
0.00008
|
|
NM_000168.6(GLI3):c.363C>T (p.His121=)
|
rs150295615
|
0.00008
|
|
NM_000168.6(GLI3):c.4382C>T (p.Ser1461Phe)
|
rs149543947
|
0.00008
|
|
NM_000168.6(GLI3):c.4649T>C (p.Leu1550Pro)
|
rs756335435
|
0.00008
|
|
NM_001271938.2(MEGF8):c.2919C>T (p.His973=)
|
rs766105588
|
0.00008
|
|
NM_001271938.2(MEGF8):c.3456G>A (p.Pro1152=)
|
rs200838638
|
0.00008
|
|
NM_001271938.2(MEGF8):c.4743G>C (p.Met1581Ile)
|
rs77422116
|
0.00008
|
|
NM_001271938.2(MEGF8):c.6909C>T (p.His2303=)
|
rs552181649
|
0.00008
|
|
NM_001365902.3(NFIX):c.843C>T (p.Ile281=)
|
rs201741871
|
0.00008
|
|
NM_001379200.1(TBX1):c.1077C>T (p.Gly359=)
|
rs1443686047
|
0.00008
|
|
NM_001379200.1(TBX1):c.1238C>G (p.Ala413Gly)
|
rs557935727
|
0.00008
|
|
NM_001379200.1(TBX1):c.1252G>C (p.Glu418Gln)
|
rs776268518
|
0.00008
|
|
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val)
|
rs753613632
|
0.00008
|
|
NM_005996.4(TBX3):c.1009G>A (p.Ala337Thr)
|
rs140580685
|
0.00008
|
|
NM_006147.4(IRF6):c.380-4G>A
|
rs373381488
|
0.00008
|
|
NM_006270.5(RRAS):c.344+17G>A
|
rs761080520
|
0.00008
|
|
NM_006939.4(SOS2):c.1935-13C>G
|
rs764835554
|
0.00008
|
|
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly)
|
rs369462490
|
0.00008
|
|
NM_006939.4(SOS2):c.2154T>C (p.Ser718=)
|
rs568511771
|
0.00008
|
|
NM_006939.4(SOS2):c.3729C>T (p.His1243=)
|
rs761917783
|
0.00008
|
|
NM_006939.4(SOS2):c.510+14G>T
|
rs897218126
|
0.00008
|
|
NM_012431.3(SEMA3E):c.1290A>T (p.Lys430Asn)
|
rs61729605
|
0.00008
|
|
NM_012431.3(SEMA3E):c.2133G>T (p.Lys711Asn)
|
rs768818178
|
0.00008
|
|
NM_012431.3(SEMA3E):c.615C>T (p.Ser205=)
|
rs758229846
|
0.00008
|
|
NM_017780.4(CHD7):c.1051G>A (p.Val351Ile)
|
rs199953550
|
0.00008
|
|
NM_017780.4(CHD7):c.127A>G (p.Ile43Val)
|
rs201542180
|
0.00008
|
|
NM_017780.4(CHD7):c.1324G>A (p.Ala442Thr)
|
rs368086966
|
0.00008
|
|
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala)
|
rs200277422
|
0.00008
|
|
NM_017780.4(CHD7):c.2613+5G>A
|
rs202143667
|
0.00008
|
|
NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val)
|
rs768184220
|
0.00008
|
|
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=)
|
rs371633293
|
0.00008
|
|
NM_017780.4(CHD7):c.3778+17C>T
|
rs111863846
|
0.00008
|
|
NM_017780.4(CHD7):c.4644+17A>G
|
rs376953317
|
0.00008
|
|
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=)
|
rs373869399
|
0.00008
|
|
NM_017780.4(CHD7):c.602A>G (p.Gln201Arg)
|
rs764496155
|
0.00008
|
|
NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn)
|
rs747846723
|
0.00008
|
|
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu)
|
rs1294102203
|
0.00008
|
|
NM_017780.4(CHD7):c.7596G>A (p.Thr2532=)
|
rs375969680
|
0.00008
|
|
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu)
|
rs3750308
|
0.00008
|
|
NM_017780.4(CHD7):c.8412G>A (p.Ala2804=)
|
rs200747690
|
0.00008
|
|
NM_017780.4(CHD7):c.8718C>T (p.Ser2906=)
|
rs372889781
|
0.00008
|
|
NM_017780.4(CHD7):c.8791G>A (p.Val2931Met)
|
rs370271088
|
0.00008
|
|
NM_181523.3(PIK3R1):c.1119-9T>C
|
rs369244066
|
0.00008
|
|
NM_181523.3(PIK3R1):c.1482T>C (p.Phe494=)
|
rs776598336
|
0.00008
|
|
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met)
|
rs781844108
|
0.00007
|
|
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)
|
rs782290331
|
0.00007
|
|
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp)
|
rs782415705
|
0.00007
|
|
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)
|
rs368917354
|
0.00007
|
|
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile)
|
rs781873881
|
0.00007
|
|
NM_000165.5(GJA1):c.1098A>G (p.Arg366=)
|
rs372862876
|
0.00007
|
|
NM_000165.5(GJA1):c.99A>G (p.Arg33=)
|
rs752719742
|
0.00007
|
|
NM_000168.6(GLI3):c.1740C>T (p.His580=)
|
rs146154710
|
0.00007
|
|
NM_000168.6(GLI3):c.2735G>A (p.Ser912Asn)
|
rs757735624
|
0.00007
|
|
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=)
|
rs201112421
|
0.00007
|
|
NM_000168.6(GLI3):c.528C>T (p.Ile176=)
|
rs539622820
|
0.00007
|
|
NM_000346.4(SOX9):c.480G>A (p.Arg160=)
|
rs370267426
|
0.00007
|
|
NM_000346.4(SOX9):c.992C>T (p.Ala331Val)
|
rs751049318
|
0.00007
|
|
NM_001271938.2(MEGF8):c.2856-4C>G
|
rs749739307
|
0.00007
|
|
NM_001271938.2(MEGF8):c.3761+19C>A
|
rs371147358
|
0.00007
|
|
NM_001271938.2(MEGF8):c.3846C>T (p.Val1282=)
|
rs142473307
|
0.00007
|
|
NM_001271938.2(MEGF8):c.5371G>T (p.Ala1791Ser)
|
rs370106282
|
0.00007
|
|
NM_001271938.2(MEGF8):c.5382G>A (p.Gly1794=)
|
rs905021679
|
0.00007
|
|
NM_001271938.2(MEGF8):c.6426G>A (p.Gly2142=)
|
rs772127120
|
0.00007
|
|
NM_001271938.2(MEGF8):c.7076A>G (p.Tyr2359Cys)
|
rs143643113
|
0.00007
|
|
NM_001379200.1(TBX1):c.95C>T (p.Ala32Val)
|
rs1415687525
|
0.00007
|
|
NM_001379200.1(TBX1):c.961C>T (p.Leu321=)
|
rs745951558
|
0.00007
|
|
NM_006939.4(SOS2):c.2707G>A (p.Val903Met)
|
rs745788940
|
0.00007
|
|
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val)
|
rs755783805
|
0.00007
|
|
NM_006939.4(SOS2):c.3337+20C>T
|
rs759267073
|
0.00007
|
|
NM_006939.4(SOS2):c.627A>G (p.Glu209=)
|
rs771839900
|
0.00007
|
|
NM_012431.3(SEMA3E):c.671-10G>A
|
rs372840645
|
0.00007
|
|
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala)
|
rs746837682
|
0.00007
|
|
NM_017780.4(CHD7):c.2803C>G (p.Leu935Val)
|
rs370304926
|
0.00007
|
|
NM_017780.4(CHD7):c.2867C>T (p.Ser956Leu)
|
rs367557471
|
0.00007
|
|
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser)
|
rs147164392
|
0.00007
|
|
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=)
|
rs748644473
|
0.00007
|
|
NM_017780.4(CHD7):c.5496G>A (p.Glu1832=)
|
rs766542090
|
0.00007
|
|
NM_017780.4(CHD7):c.729C>T (p.Pro243=)
|
rs371398600
|
0.00007
|
|
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile)
|
rs201514840
|
0.00007
|
|
NM_017780.4(CHD7):c.805G>A (p.Val269Ile)
|
rs747972265
|
0.00007
|
|
NM_017780.4(CHD7):c.8322C>G (p.Gly2774=)
|
rs376063472
|
0.00007
|
|
NM_017780.4(CHD7):c.8580C>T (p.Ser2860=)
|
rs767368987
|
0.00007
|
|
NM_017780.4(CHD7):c.8692A>G (p.Met2898Val)
|
rs755028719
|
0.00007
|
|
NM_000052.7(ATP7A):c.1677T>G (p.Ala559=)
|
rs149841982
|
0.00006
|
|
NM_000052.7(ATP7A):c.1893G>C (p.Leu631Phe)
|
rs372898963
|
0.00006
|
|
NM_000052.7(ATP7A):c.1934G>A (p.Arg645Gln)
|
rs782729433
|
0.00006
|
|
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=)
|
rs781832055
|
0.00006
|
|
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)
|
rs782166627
|
0.00006
|
|
NM_000052.7(ATP7A):c.493A>G (p.Met165Val)
|
rs782097214
|
0.00006
|
|
NM_000052.7(ATP7A):c.748A>G (p.Ile250Val)
|
rs1189996419
|
0.00006
|
|
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser)
|
rs368147403
|
0.00006
|
|
NM_000165.5(GJA1):c.508T>G (p.Leu170Val)
|
rs377077470
|
0.00006
|
|
NM_000168.6(GLI3):c.1992G>A (p.Ser664=)
|
rs770030848
|
0.00006
|
|
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala)
|
rs369237977
|
0.00006
|
|
NM_000168.6(GLI3):c.240C>T (p.Asp80=)
|
rs149400571
|
0.00006
|
|
NM_000168.6(GLI3):c.272A>G (p.His91Arg)
|
rs768107926
|
0.00006
|
|
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=)
|
rs530418832
|
0.00006
|
|
NM_000168.6(GLI3):c.4089C>T (p.Cys1363=)
|
rs202059951
|
0.00006
|
|
NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile)
|
rs138100963
|
0.00006
|
|
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser)
|
rs202039538
|
0.00006
|
|
NM_000346.4(SOX9):c.1092G>A (p.Ala364=)
|
rs754417848
|
0.00006
|
|
NM_000346.4(SOX9):c.1330G>A (p.Asp444Asn)
|
rs551719325
|
0.00006
|
|
NM_000346.4(SOX9):c.686-9T>C
|
rs145818235
|
0.00006
|
|
NM_000346.4(SOX9):c.914G>C (p.Gly305Ala)
|
rs143697828
|
0.00006
|
|
NM_001271938.2(MEGF8):c.1391-3C>T
|
rs377586547
|
0.00006
|
|
NM_001271938.2(MEGF8):c.1789-5C>T
|
rs752609842
|
0.00006
|
|
NM_001271938.2(MEGF8):c.2342G>A (p.Arg781Gln)
|
rs146355445
|
0.00006
|
|
NM_001271938.2(MEGF8):c.2784G>A (p.Ala928=)
|
rs750686408
|
0.00006
|
|
NM_001271938.2(MEGF8):c.3658C>T (p.Arg1220Cys)
|
rs762398666
|
0.00006
|
|
NM_001271938.2(MEGF8):c.3951C>T (p.Pro1317=)
|
rs139891048
|
0.00006
|
|
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr)
|
rs777483950
|
0.00006
|
|
NM_001271938.2(MEGF8):c.5353C>T (p.Arg1785Trp)
|
rs772299336
|
0.00006
|
|
NM_001271938.2(MEGF8):c.5812C>T (p.His1938Tyr)
|
rs757924699
|
0.00006
|
|
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu)
|
rs372350131
|
0.00006
|
|
NM_001271938.2(MEGF8):c.6753G>A (p.Thr2251=)
|
rs372437317
|
0.00006
|
|
NM_001271938.2(MEGF8):c.7311C>T (p.Gly2437=)
|
rs375011847
|
0.00006
|
|
NM_001271938.2(MEGF8):c.7713G>A (p.Pro2571=)
|
rs200748447
|
0.00006
|
|
NM_001271938.2(MEGF8):c.8122C>A (p.Pro2708Thr)
|
rs373293709
|
0.00006
|
|
NM_001365902.3(NFIX):c.1078+19C>T
|
rs377622313
|
0.00006
|
|
NM_001365902.3(NFIX):c.786G>A (p.Gly262=)
|
rs199590032
|
0.00006
|
|
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro)
|
rs755937050
|
0.00006
|
|
NM_001379200.1(TBX1):c.198C>T (p.Ala66=)
|
rs1398031445
|
0.00006
|
|
NM_001379200.1(TBX1):c.540-13C>T
|
rs200902332
|
0.00006
|
|
NM_001379200.1(TBX1):c.657C>T (p.Ile219=)
|
rs141186024
|
0.00006
|
|
NM_001379200.1(TBX1):c.666C>T (p.Phe222=)
|
rs546513284
|
0.00006
|
|
NM_001379200.1(TBX1):c.711+3G>A
|
rs376779775
|
0.00006
|
|
NM_003106.4(SOX2):c.397G>A (p.Ala133Thr)
|
rs377110178
|
0.00006
|
|
NM_003106.4(SOX2):c.840C>G (p.Gly280=)
|
rs767686608
|
0.00006
|
|
NM_005996.4(TBX3):c.1671C>G (p.Thr557=)
|
rs548288032
|
0.00006
|
|
NM_005996.4(TBX3):c.1965C>T (p.Ala655=)
|
rs779062347
|
0.00006
|
|
NM_005996.4(TBX3):c.1996G>A (p.Val666Met)
|
rs762726425
|
0.00006
|
|
NM_006270.5(RRAS):c.163G>A (p.Val55Met)
|
rs368625677
|
0.00006
|
|
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)
|
rs200611081
|
0.00006
|
|
NM_006270.5(RRAS):c.409G>A (p.Val137Ile)
|
rs757080959
|
0.00006
|
|
NM_006912.6(RIT1):c.106+15C>T
|
rs755316223
|
0.00006
|
|
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn)
|
rs200368064
|
0.00006
|
|
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile)
|
rs373143128
|
0.00006
|
|
NM_006939.4(SOS2):c.2700C>T (p.Asp900=)
|
rs369410641
|
0.00006
|
|
NM_006939.4(SOS2):c.2959-16A>G
|
rs147830734
|
0.00006
|
|
NM_006939.4(SOS2):c.36C>T (p.Ser12=)
|
rs377290612
|
0.00006
|
|
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala)
|
rs761580972
|
0.00006
|
|
NM_006939.4(SOS2):c.504G>A (p.Ala168=)
|
rs199898102
|
0.00006
|
|
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)
|
rs780580623
|
0.00006
|
|
NM_006939.4(SOS2):c.720C>T (p.Ile240=)
|
rs373852615
|
0.00006
|
|
NM_012431.3(SEMA3E):c.1076A>G (p.His359Arg)
|
rs373965521
|
0.00006
|
|
NM_012431.3(SEMA3E):c.1366+10C>T
|
rs144608744
|
0.00006
|
|
NM_012431.3(SEMA3E):c.1498C>A (p.Arg500=)
|
rs111300014
|
0.00006
|
|
NM_012431.3(SEMA3E):c.1856G>A (p.Arg619His)
|
rs140160399
|
0.00006
|
|
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=)
|
rs142305186
|
0.00006
|
|
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu)
|
rs142392597
|
0.00006
|
|
NM_012431.3(SEMA3E):c.999-16T>C
|
rs376833826
|
0.00006
|
|
NM_016277.5(RAB23):c.90C>G (p.Cys30Trp)
|
rs776515230
|
0.00006
|
|
NM_017780.4(CHD7):c.1050T>C (p.Ala350=)
|
rs777423713
|
0.00006
|
|
NM_017780.4(CHD7):c.1410A>G (p.Glu470=)
|
rs368648424
|
0.00006
|
|
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr)
|
rs749781761
|
0.00006
|
|
NM_017780.4(CHD7):c.1659G>C (p.Val553=)
|
rs1320484884
|
0.00006
|
|
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala)
|
rs377662366
|
0.00006
|
|
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys)
|
rs377330239
|
0.00006
|
|
NM_017780.4(CHD7):c.2946T>C (p.Asn982=)
|
rs752803020
|
0.00006
|
|
NM_017780.4(CHD7):c.3126C>T (p.Asn1042=)
|
rs568551629
|
0.00006
|
|
NM_017780.4(CHD7):c.3299G>A (p.Arg1100His)
|
rs767259131
|
0.00006
|
|
NM_017780.4(CHD7):c.3523-12G>A
|
rs373865383
|
0.00006
|
|
NM_017780.4(CHD7):c.381T>C (p.Pro127=)
|
rs373676882
|
0.00006
|
|
NM_017780.4(CHD7):c.4275C>T (p.Phe1425=)
|
rs368919638
|
0.00006
|
|
NM_017780.4(CHD7):c.4534-20C>T
|
rs727503866
|
0.00006
|
|
NM_017780.4(CHD7):c.4850+6T>A
|
rs745527754
|
0.00006
|
|
NM_017780.4(CHD7):c.4920A>G (p.Glu1640=)
|
rs757952334
|
0.00006
|
|
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val)
|
rs61737194
|
0.00006
|
|
NM_017780.4(CHD7):c.510G>A (p.Pro170=)
|
rs748841915
|
0.00006
|
|
NM_017780.4(CHD7):c.522G>A (p.Pro174=)
|
rs577112542
|
0.00006
|
|
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val)
|
rs368747227
|
0.00006
|
|
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln)
|
rs371988345
|
0.00006
|
|
NM_017780.4(CHD7):c.6034G>A (p.Glu2012Lys)
|
rs904822604
|
0.00006
|
|
NM_017780.4(CHD7):c.6831C>T (p.Ser2277=)
|
rs572350789
|
0.00006
|
|
NM_017780.4(CHD7):c.7589A>G (p.Lys2530Arg)
|
rs777303307
|
0.00006
|
|
NM_017780.4(CHD7):c.7863G>A (p.Gln2621=)
|
rs749381782
|
0.00006
|
|
NM_017780.4(CHD7):c.7989G>A (p.Ala2663=)
|
rs767067759
|
0.00006
|
|
NM_017780.4(CHD7):c.90G>A (p.Pro30=)
|
rs374464240
|
0.00006
|
|
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr)
|
rs537091457
|
0.00006
|
|
NM_181523.3(PIK3R1):c.541G>A (p.Val181Ile)
|
rs143572224
|
0.00006
|
|
NM_181523.3(PIK3R1):c.825C>A (p.Phe275Leu)
|
rs377030014
|
0.00006
|
|
NM_181523.3(PIK3R1):c.888T>G (p.Thr296=)
|
rs1420907388
|
0.00006
|
|
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=)
|
rs372232940
|
0.00005
|
|
NM_000052.7(ATP7A):c.1273C>T (p.Leu425=)
|
rs781950759
|
0.00005
|
|
NM_000052.7(ATP7A):c.1309G>A (p.Asp437Asn)
|
rs781927920
|
0.00005
|
|
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)
|
rs782076879
|
0.00005
|
|
NM_000052.7(ATP7A):c.1722G>A (p.Thr574=)
|
rs207478437
|
0.00005
|
|
NM_000052.7(ATP7A):c.1772G>A (p.Gly591Glu)
|
rs782566688
|
0.00005
|
|
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=)
|
rs781928652
|
0.00005
|
|
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=)
|
rs782154912
|
0.00005
|
|
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu)
|
rs782143115
|
0.00005
|
|
NM_000052.7(ATP7A):c.3117G>T (p.Lys1039Asn)
|
rs1057520234
|
0.00005
|
|
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn)
|
rs782475540
|
0.00005
|
|
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=)
|
rs144293453
|
0.00005
|
|
NM_000052.7(ATP7A):c.4246G>A (p.Glu1416Lys)
|
rs781970260
|
0.00005
|
|
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)
|
rs782682493
|
0.00005
|
|
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr)
|
rs188836609
|
0.00005
|
|
NM_000052.7(ATP7A):c.673A>G (p.Met225Val)
|
rs782619990
|
0.00005
|
|
NM_000168.6(GLI3):c.1365C>T (p.Pro455=)
|
rs544431683
|
0.00005
|
|
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr)
|
rs749807129
|
0.00005
|
|
NM_000168.6(GLI3):c.2184C>T (p.Leu728=)
|
rs149724824
|
0.00005
|
|
NM_000168.6(GLI3):c.2361T>C (p.Asn787=)
|
rs10259802
|
0.00005
|
|
NM_000168.6(GLI3):c.3162C>T (p.Gly1054=)
|
rs554127075
|
0.00005
|
|
NM_000168.6(GLI3):c.3351G>A (p.Pro1117=)
|
rs368061722
|
0.00005
|
|
NM_000168.6(GLI3):c.3669C>T (p.Tyr1223=)
|
rs773687251
|
0.00005
|
|
NM_000168.6(GLI3):c.480C>T (p.Ser160=)
|
rs148660482
|
0.00005
|
|
NM_000346.4(SOX9):c.654G>A (p.Met218Ile)
|
rs747366415
|
0.00005
|
|
NM_001271938.2(MEGF8):c.1116C>T (p.Ser372=)
|
rs746659886
|
0.00005
|
|
NM_001271938.2(MEGF8):c.352-5C>T
|
rs180788941
|
0.00005
|
|
NM_001271938.2(MEGF8):c.3841C>T (p.Arg1281Trp)
|
rs371283114
|
0.00005
|
|
NM_001271938.2(MEGF8):c.4028C>T (p.Ala1343Val)
|
rs746330794
|
0.00005
|
|
NM_001271938.2(MEGF8):c.4516C>T (p.Arg1506Cys)
|
rs142361779
|
0.00005
|
|
NM_001271938.2(MEGF8):c.5257C>T (p.Arg1753Trp)
|
rs139859934
|
0.00005
|
|
NM_001271938.2(MEGF8):c.5751A>G (p.Pro1917=)
|
rs200526872
|
0.00005
|
|
NM_001271938.2(MEGF8):c.7589C>T (p.Pro2530Leu)
|
rs769598183
|
0.00005
|
|
NM_001271938.2(MEGF8):c.8492G>A (p.Arg2831Gln)
|
rs766621187
|
0.00005
|
|
NM_001379200.1(TBX1):c.1082C>T (p.Pro361Leu)
|
rs1001921296
|
0.00005
|
|
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln)
|
rs747623105
|
0.00005
|
|
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg)
|
rs541198585
|
0.00005
|
|
NM_001379200.1(TBX1):c.624G>A (p.Ser208=)
|
rs754390970
|
0.00005
|
|
NM_001379200.1(TBX1):c.978C>T (p.Ala326=)
|
rs772039142
|
0.00005
|
|
NM_003106.4(SOX2):c.33G>T (p.Pro11=)
|
rs771068335
|
0.00005
|
|
NM_005996.4(TBX3):c.1890G>A (p.Pro630=)
|
rs765657055
|
0.00005
|
|
NM_006270.5(RRAS):c.495C>T (p.His165=)
|
rs765681955
|
0.00005
|
|
NM_006270.5(RRAS):c.645C>T (p.Cys215=)
|
rs149038492
|
0.00005
|
|
NM_006939.4(SOS2):c.121A>G (p.Asn41Asp)
|
rs575983927
|
0.00005
|
|
NM_006939.4(SOS2):c.2058-16C>T
|
rs577436233
|
0.00005
|
|
NM_006939.4(SOS2):c.244A>G (p.Ile82Val)
|
rs545263131
|
0.00005
|
|
NM_006939.4(SOS2):c.2606T>C (p.Val869Ala)
|
rs750095346
|
0.00005
|
|
NM_006939.4(SOS2):c.2955G>A (p.Met985Ile)
|
rs367670036
|
0.00005
|
|
NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser)
|
rs773877975
|
0.00005
|
|
NM_006939.4(SOS2):c.458G>A (p.Arg153Gln)
|
rs779591050
|
0.00005
|
|
NM_012431.3(SEMA3E):c.167T>C (p.Leu56Pro)
|
rs375067711
|
0.00005
|
|
NM_012431.3(SEMA3E):c.196T>C (p.Tyr66His)
|
rs558904762
|
0.00005
|
|
NM_012431.3(SEMA3E):c.814-11G>T
|
rs781715218
|
0.00005
|
|
NM_012431.3(SEMA3E):c.949A>T (p.Thr317Ser)
|
rs752718717
|
0.00005
|
|
NM_012431.3(SEMA3E):c.998+10T>C
|
rs769133097
|
0.00005
|
|
NM_016277.5(RAB23):c.123C>T (p.Thr41=)
|
rs759408401
|
0.00005
|
|
NM_017780.4(CHD7):c.1104C>T (p.His368=)
|
rs763250461
|
0.00005
|
|
NM_017780.4(CHD7):c.1562C>T (p.Pro521Leu)
|
rs373211059
|
0.00005
|
|
NM_017780.4(CHD7):c.1959G>A (p.Pro653=)
|
rs747024874
|
0.00005
|
|
NM_017780.4(CHD7):c.1966C>T (p.Pro656Ser)
|
rs769003426
|
0.00005
|
|
NM_017780.4(CHD7):c.2675G>A (p.Arg892His)
|
rs200188105
|
0.00005
|
|
NM_017780.4(CHD7):c.2960G>A (p.Arg987Gln)
|
rs767390470
|
0.00005
|
|
NM_017780.4(CHD7):c.3202-3T>C
|
rs1060503183
|
0.00005
|
|
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)
|
rs41272440
|
0.00005
|
|
NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr)
|
rs771781756
|
0.00005
|
|
NM_017780.4(CHD7):c.4416C>A (p.Leu1472=)
|
rs546733576
|
0.00005
|
|
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn)
|
rs370599133
|
0.00005
|
|
NM_017780.4(CHD7):c.5301-13T>C
|
rs368716487
|
0.00005
|
|
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=)
|
rs376993840
|
0.00005
|
|
NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys)
|
rs777753993
|
0.00005
|
|
NM_017780.4(CHD7):c.7086C>T (p.Ser2362=)
|
rs757280832
|
0.00005
|
|
NM_017780.4(CHD7):c.7294G>A (p.Val2432Met)
|
rs372078650
|
0.00005
|
|
NM_017780.4(CHD7):c.748C>T (p.Arg250Cys)
|
rs368934543
|
0.00005
|
|
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg)
|
rs765315726
|
0.00005
|
|
NM_017780.4(CHD7):c.8361C>T (p.Gly2787=)
|
rs200792215
|
0.00005
|
|
NM_017780.4(CHD7):c.8568C>T (p.Asp2856=)
|
rs539868738
|
0.00005
|
|
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)
|
rs756022347
|
0.00005
|
|
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln)
|
rs368706736
|
0.00005
|
|
NM_181523.3(PIK3R1):c.305C>T (p.Ser102Leu)
|
rs368742778
|
0.00005
|
|
NM_000052.7(ATP7A):c.1137T>C (p.Thr379=)
|
rs376042813
|
0.00004
|
|
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val)
|
rs369419911
|
0.00004
|
|
NM_000052.7(ATP7A):c.1270C>T (p.Leu424=)
|
rs139000596
|
0.00004
|
|
NM_000052.7(ATP7A):c.1377G>A (p.Ser459=)
|
rs377355446
|
0.00004
|
|
NM_000052.7(ATP7A):c.2172+7G>T
|
rs782433802
|
0.00004
|
|
NM_000052.7(ATP7A):c.2499-7T>C
|
rs782260332
|
0.00004
|
|
NM_000052.7(ATP7A):c.2619C>T (p.Leu873=)
|
rs1307515001
|
0.00004
|
|
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp)
|
rs188175511
|
0.00004
|
|
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=)
|
rs369055537
|
0.00004
|
|
NM_000052.7(ATP7A):c.3558G>A (p.Glu1186=)
|
rs1325311308
|
0.00004
|
|
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val)
|
rs782323741
|
0.00004
|
|
NM_000052.7(ATP7A):c.3863A>G (p.Gln1288Arg)
|
rs375788705
|
0.00004
|
|
NM_000052.7(ATP7A):c.4005+19C>A
|
rs1231604254
|
0.00004
|
|
NM_000052.7(ATP7A):c.4305C>T (p.Ser1435=)
|
rs146052682
|
0.00004
|
|
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=)
|
rs782587854
|
0.00004
|
|
NM_000052.7(ATP7A):c.729G>A (p.Lys243=)
|
rs782326318
|
0.00004
|
|
NM_000052.7(ATP7A):c.765A>G (p.Leu255=)
|
rs781957871
|
0.00004
|
|
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln)
|
rs764670582
|
0.00004
|
|
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn)
|
rs765459582
|
0.00004
|
|
NM_000165.5(GJA1):c.868A>G (p.Thr290Ala)
|
rs562513101
|
0.00004
|
|
NM_000168.6(GLI3):c.1221C>T (p.Ser407=)
|
rs369180011
|
0.00004
|
|
NM_000168.6(GLI3):c.1242+6del
|
rs772496012
|
0.00004
|
|
NM_000168.6(GLI3):c.1325A>G (p.Asp442Gly)
|
rs749073077
|
0.00004
|
|
NM_000168.6(GLI3):c.1536G>A (p.Glu512=)
|
rs764176144
|
0.00004
|
|
NM_000168.6(GLI3):c.1909C>T (p.His637Tyr)
|
rs371617666
|
0.00004
|
|
NM_000168.6(GLI3):c.1969G>A (p.Gly657Ser)
|
rs377579354
|
0.00004
|
|
NM_000168.6(GLI3):c.2104-8C>T
|
rs769769944
|
0.00004
|
|
NM_000168.6(GLI3):c.2306C>T (p.Pro769Leu)
|
rs139672999
|
0.00004
|
|
NM_000168.6(GLI3):c.2706C>T (p.Ala902=)
|
rs779103816
|
0.00004
|
|
NM_000168.6(GLI3):c.3540G>A (p.Gly1180=)
|
rs143551701
|
0.00004
|
|
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)
|
rs543636524
|
0.00004
|
|
NM_000168.6(GLI3):c.4104C>T (p.His1368=)
|
rs780530149
|
0.00004
|
|
NM_000168.6(GLI3):c.4640T>A (p.Phe1547Tyr)
|
rs373789617
|
0.00004
|
|
NM_000168.6(GLI3):c.4740A>G (p.Gln1580=)
|
rs375653915
|
0.00004
|
|
NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr)
|
rs369926331
|
0.00004
|
|
NM_000168.6(GLI3):c.678T>C (p.Asp226=)
|
rs756130174
|
0.00004
|
|
NM_000346.4(SOX9):c.1029G>A (p.Pro343=)
|
rs747054712
|
0.00004
|
|
NM_000346.4(SOX9):c.187G>C (p.Glu63Gln)
|
rs149852681
|
0.00004
|
|
NM_000346.4(SOX9):c.200A>G (p.Asp67Gly)
|
rs769953292
|
0.00004
|
|
NM_000346.4(SOX9):c.817G>C (p.Val273Leu)
|
rs201477430
|
0.00004
|
|
NM_000346.4(SOX9):c.918G>A (p.Val306=)
|
rs367966473
|
0.00004
|
|
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg)
|
rs746031284
|
0.00004
|
|
NM_001271938.2(MEGF8):c.3350+11C>T
|
rs201865376
|
0.00004
|
|
NM_001271938.2(MEGF8):c.3392C>T (p.Pro1131Leu)
|
rs748525586
|
0.00004
|
|
NM_001271938.2(MEGF8):c.3957C>A (p.Thr1319=)
|
rs754753739
|
0.00004
|
|
NM_001271938.2(MEGF8):c.3990C>T (p.Pro1330=)
|
rs141015952
|
0.00004
|
|
NM_001271938.2(MEGF8):c.4416C>T (p.Ala1472=)
|
rs139822806
|
0.00004
|
|
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val)
|
rs913420234
|
0.00004
|
|
NM_001271938.2(MEGF8):c.485C>T (p.Pro162Leu)
|
rs770734416
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6059-18C>A
|
rs565505835
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6274-8C>G
|
rs543093080
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6497G>A (p.Arg2166His)
|
rs370984978
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6588C>T (p.His2196=)
|
rs751105144
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6752C>T (p.Thr2251Met)
|
rs370225382
|
0.00004
|
|
NM_001271938.2(MEGF8):c.7420C>T (p.Arg2474Cys)
|
rs753671779
|
0.00004
|
|
NM_001271938.2(MEGF8):c.7893C>T (p.Ala2631=)
|
rs150486662
|
0.00004
|
|
NM_001271938.2(MEGF8):c.8284G>A (p.Gly2762Arg)
|
rs770472361
|
0.00004
|
|
NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser)
|
rs914088074
|
0.00004
|
|
NM_001271938.2(MEGF8):c.853G>A (p.Val285Met)
|
rs376248434
|
0.00004
|
|
NM_001365902.3(NFIX):c.252G>T (p.Arg84=)
|
rs769513682
|
0.00004
|
|
NM_001379200.1(TBX1):c.1085C>G (p.Ala362Gly)
|
rs569581176
|
0.00004
|
|
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln)
|
rs548714133
|
0.00004
|
|
NM_001379200.1(TBX1):c.113G>A (p.Gly38Asp)
|
rs908778553
|
0.00004
|
|
NM_001379200.1(TBX1):c.1161C>T (p.Gly387=)
|
rs941116789
|
0.00004
|
|
NM_001379200.1(TBX1):c.201C>G (p.Pro67=)
|
rs1310802135
|
0.00004
|
|
NM_001379200.1(TBX1):c.437+11C>T
|
rs751433208
|
0.00004
|
|
NM_001379200.1(TBX1):c.438-5C>G
|
rs972035685
|
0.00004
|
|
NM_001379200.1(TBX1):c.489C>T (p.Ala163=)
|
rs41298816
|
0.00004
|
|
NM_001379200.1(TBX1):c.544G>A (p.Ala182Thr)
|
rs1342897153
|
0.00004
|
|
NM_001379200.1(TBX1):c.867+11G>A
|
rs180798122
|
0.00004
|
|
NM_003106.4(SOX2):c.540C>T (p.Tyr180=)
|
rs771521201
|
0.00004
|
|
NM_005996.4(TBX3):c.1008C>T (p.Ala336=)
|
rs375068143
|
0.00004
|
|
NM_005996.4(TBX3):c.2004G>A (p.Ser668=)
|
rs139599654
|
0.00004
|
|
NM_005996.4(TBX3):c.216C>T (p.Ala72=)
|
rs763331884
|
0.00004
|
|
NM_005996.4(TBX3):c.390-9G>A
|
rs753151479
|
0.00004
|
|
NM_005996.4(TBX3):c.690C>T (p.Pro230=)
|
rs375009658
|
0.00004
|
|
NM_006270.5(RRAS):c.154-5G>A
|
rs753238136
|
0.00004
|
|
NM_006270.5(RRAS):c.324C>T (p.Phe108=)
|
rs578092373
|
0.00004
|
|
NM_006270.5(RRAS):c.38G>A (p.Arg13Gln)
|
rs764597042
|
0.00004
|
|
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn)
|
rs374650566
|
0.00004
|
|
NM_006270.5(RRAS):c.453+5G>A
|
rs766707816
|
0.00004
|
|
NM_006270.5(RRAS):c.481G>A (p.Gly161Ser)
|
rs758697481
|
0.00004
|
|
NM_006270.5(RRAS):c.543G>A (p.Glu181=)
|
rs370876982
|
0.00004
|
|
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser)
|
rs548040971
|
0.00004
|
|
NM_006270.5(RRAS):c.646G>A (p.Val216Ile)
|
rs748655822
|
0.00004
|
|
NM_006912.6(RIT1):c.231T>C (p.Ala77=)
|
rs144170253
|
0.00004
|
|
NM_006912.6(RIT1):c.291C>A (p.Ile97=)
|
rs377326705
|
0.00004
|
|
NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)
|
rs745807905
|
0.00004
|
|
NM_006912.6(RIT1):c.635G>A (p.Arg212Gln)
|
rs764347644
|
0.00004
|
|
NM_006939.4(SOS2):c.1281C>T (p.Ile427=)
|
rs8010578
|
0.00004
|
|
NM_006939.4(SOS2):c.147A>G (p.Glu49=)
|
rs1030329651
|
0.00004
|
|
NM_006939.4(SOS2):c.1584T>C (p.Ser528=)
|
rs374642561
|
0.00004
|
|
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
|
rs1391029692
|
0.00004
|
|
NM_006939.4(SOS2):c.2162-16T>C
|
rs764585497
|
0.00004
|
|
NM_006939.4(SOS2):c.2220A>C (p.Gln740His)
|
rs576277421
|
0.00004
|
|
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)
|
rs181275468
|
0.00004
|
|
NM_006939.4(SOS2):c.2275A>G (p.Ile759Val)
|
rs956839910
|
0.00004
|
|
NM_006939.4(SOS2):c.2388A>G (p.Lys796=)
|
rs1884441136
|
0.00004
|
|
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
|
rs146272145
|
0.00004
|
|
NM_006939.4(SOS2):c.2668-5T>C
|
rs1045852656
|
0.00004
|
|
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)
|
rs761320331
|
0.00004
|
|
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)
|
rs201874067
|
0.00004
|
|
NM_006939.4(SOS2):c.3335G>A (p.Cys1112Tyr)
|
rs756103351
|
0.00004
|
|
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu)
|
rs751240491
|
0.00004
|
|
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)
|
rs935249167
|
0.00004
|
|
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu)
|
rs778368766
|
0.00004
|
|
NM_006939.4(SOS2):c.3673G>C (p.Glu1225Gln)
|
rs769329817
|
0.00004
|
|
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)
|
rs569343105
|
0.00004
|
|
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)
|
rs759124324
|
0.00004
|
|
NM_006939.4(SOS2):c.3960C>T (p.Tyr1320=)
|
rs766057658
|
0.00004
|
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
|
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln)
|
rs538341032
|
0.00004
|
|
NM_006939.4(SOS2):c.811A>G (p.Ser271Gly)
|
rs775494170
|
0.00004
|
|
NM_006939.4(SOS2):c.837C>T (p.Ser279=)
|
rs542617984
|
0.00004
|
|
NM_006939.4(SOS2):c.970-19A>G
|
rs369274700
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1017T>A (p.His339Gln)
|
rs746431820
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1043G>A (p.Ser348Asn)
|
rs1293541067
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1048C>T (p.Arg350Trp)
|
rs546414937
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1081G>A (p.Glu361Lys)
|
rs754754690
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1147G>T (p.Ala383Ser)
|
rs373711827
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1173C>T (p.Tyr391=)
|
rs370540865
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1239G>A (p.Gln413=)
|
rs776317078
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1500G>T (p.Arg500=)
|
rs767115234
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1637G>A (p.Arg546Gln)
|
rs769248913
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1827G>A (p.Ala609=)
|
rs756346342
|
0.00004
|
|
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=)
|
rs148264760
|
0.00004
|
|
NM_012431.3(SEMA3E):c.1909C>G (p.Leu637Val)
|
rs771976054
|
0.00004
|
|
NM_012431.3(SEMA3E):c.213C>T (p.Phe71=)
|
rs146189665
|
0.00004
|
|
NM_012431.3(SEMA3E):c.2279G>A (p.Arg760His)
|
rs143423970
|
0.00004
|
|
NM_012431.3(SEMA3E):c.322A>C (p.Lys108Gln)
|
rs201465097
|
0.00004
|
|
NM_012431.3(SEMA3E):c.355G>C (p.Val119Leu)
|
rs145267516
|
0.00004
|
|
NM_012431.3(SEMA3E):c.5C>G (p.Ala2Gly)
|
rs763295904
|
0.00004
|
|
NM_012431.3(SEMA3E):c.814-10G>T
|
rs1053672541
|
0.00004
|
|
NM_016277.5(RAB23):c.171T>C (p.Asp57=)
|
rs368714271
|
0.00004
|
|
NM_016277.5(RAB23):c.255T>C (p.Cys85=)
|
rs374601145
|
0.00004
|
|
NM_016277.5(RAB23):c.481+10C>T
|
rs546078370
|
0.00004
|
|
NM_016277.5(RAB23):c.534T>C (p.Ala178=)
|
rs201820320
|
0.00004
|
|
NM_016277.5(RAB23):c.54A>G (p.Gly18=)
|
rs767442221
|
0.00004
|
|
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser)
|
rs748638791
|
0.00004
|
|
NM_017780.4(CHD7):c.1029C>T (p.Ser343=)
|
rs570815501
|
0.00004
|
|
NM_017780.4(CHD7):c.1030G>A (p.Val344Ile)
|
rs199919181
|
0.00004
|
|
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)
|
rs554737227
|
0.00004
|
|
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe)
|
rs373112189
|
0.00004
|
|
NM_017780.4(CHD7):c.1281T>C (p.Tyr427=)
|
rs373942842
|
0.00004
|
|
NM_017780.4(CHD7):c.1663C>A (p.Gln555Lys)
|
rs200024753
|
0.00004
|
|
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu)
|
rs746633621
|
0.00004
|
|
NM_017780.4(CHD7):c.1920A>G (p.Glu640=)
|
rs749214938
|
0.00004
|
|
NM_017780.4(CHD7):c.2097-9G>C
|
rs759100071
|
0.00004
|
|
NM_017780.4(CHD7):c.2123G>A (p.Ser708Asn)
|
rs753687437
|
0.00004
|
|
NM_017780.4(CHD7):c.2238+12A>G
|
rs752854030
|
0.00004
|
|
NM_017780.4(CHD7):c.2498+12G>T
|
rs557099951
|
0.00004
|
|
NM_017780.4(CHD7):c.2820G>A (p.Pro940=)
|
rs539734440
|
0.00004
|
|
NM_017780.4(CHD7):c.2840G>A (p.Arg947Gln)
|
rs768481542
|
0.00004
|
|
NM_017780.4(CHD7):c.294C>T (p.Leu98=)
|
rs372513999
|
0.00004
|
|
NM_017780.4(CHD7):c.2958-16C>A
|
rs772885661
|
0.00004
|
|
NM_017780.4(CHD7):c.3378+18T>C
|
rs141625014
|
0.00004
|
|
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val)
|
rs751726519
|
0.00004
|
|
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser)
|
rs587783439
|
0.00004
|
|
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala)
|
rs183761594
|
0.00004
|
|
NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser)
|
rs750258756
|
0.00004
|
|
NM_017780.4(CHD7):c.4533+9C>T
|
rs1047944999
|
0.00004
|
|
NM_017780.4(CHD7):c.4621G>A (p.Asp1541Asn)
|
rs767513261
|
0.00004
|
|
NM_017780.4(CHD7):c.476C>T (p.Pro159Leu)
|
rs1201043974
|
0.00004
|
|
NM_017780.4(CHD7):c.4859G>A (p.Arg1620Gln)
|
rs768497646
|
0.00004
|
|
NM_017780.4(CHD7):c.4877C>T (p.Ser1626Phe)
|
rs369608927
|
0.00004
|
|
NM_017780.4(CHD7):c.4885C>T (p.Arg1629Cys)
|
rs745837768
|
0.00004
|
|
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=)
|
rs777652245
|
0.00004
|
|
NM_017780.4(CHD7):c.5051-14G>T
|
rs766512334
|
0.00004
|
|
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=)
|
rs191081055
|
0.00004
|
|
NM_017780.4(CHD7):c.5196G>A (p.Lys1732=)
|
rs755703816
|
0.00004
|
|
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu)
|
rs767279224
|
0.00004
|
|
NM_017780.4(CHD7):c.524C>T (p.Ser175Leu)
|
rs370305211
|
0.00004
|
|
NM_017780.4(CHD7):c.5399A>G (p.Lys1800Arg)
|
rs1481262806
|
0.00004
|
|
NM_017780.4(CHD7):c.5405-18C>T
|
rs199981784
|
0.00004
|
|
NM_017780.4(CHD7):c.5405-8C>T
|
rs755505152
|
0.00004
|
|
NM_017780.4(CHD7):c.5409T>C (p.Tyr1803=)
|
rs1021645395
|
0.00004
|
|
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr)
|
rs368609862
|
0.00004
|
|
NM_017780.4(CHD7):c.5533G>A (p.Gly1845Arg)
|
rs753347128
|
0.00004
|
|
NM_017780.4(CHD7):c.5589G>A (p.Pro1863=)
|
rs376806146
|
0.00004
|
|
NM_017780.4(CHD7):c.5625T>C (p.Pro1875=)
|
rs764844969
|
0.00004
|
|
NM_017780.4(CHD7):c.5665+11A>G
|
rs765928233
|
0.00004
|
|
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=)
|
rs528130317
|
0.00004
|
|
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val)
|
rs748578338
|
0.00004
|
|
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)
|
rs143796440
|
0.00004
|
|
NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu)
|
rs369543203
|
0.00004
|
|
NM_017780.4(CHD7):c.6248C>T (p.Pro2083Leu)
|
rs773859400
|
0.00004
|
|
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe)
|
rs561398606
|
0.00004
|
|
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr)
|
rs766776212
|
0.00004
|
|
NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln)
|
rs375199214
|
0.00004
|
|
NM_017780.4(CHD7):c.6304G>T (p.Val2102Phe)
|
rs753559567
|
0.00004
|
|
NM_017780.4(CHD7):c.6335C>T (p.Thr2112Met)
|
rs758409717
|
0.00004
|
|
NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys)
|
rs727503867
|
0.00004
|
|
NM_017780.4(CHD7):c.6577G>A (p.Glu2193Lys)
|
rs918223900
|
0.00004
|
|
NM_017780.4(CHD7):c.6589G>A (p.Asp2197Asn)
|
rs772379262
|
0.00004
|
|
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val)
|
rs1329751221
|
0.00004
|
|
NM_017780.4(CHD7):c.6775+13C>T
|
rs775198282
|
0.00004
|
|
NM_017780.4(CHD7):c.6793G>A (p.Gly2265Arg)
|
rs368750638
|
0.00004
|
|
NM_017780.4(CHD7):c.6963C>T (p.Asp2321=)
|
rs757868659
|
0.00004
|
|
NM_017780.4(CHD7):c.7164+3G>A
|
rs1181000692
|
0.00004
|
|
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln)
|
rs761410781
|
0.00004
|
|
NM_017780.4(CHD7):c.7283G>A (p.Arg2428Gln)
|
rs563360548
|
0.00004
|
|
NM_017780.4(CHD7):c.7308T>C (p.Asn2436=)
|
rs375586969
|
0.00004
|
|
NM_017780.4(CHD7):c.7332A>G (p.Leu2444=)
|
rs764110898
|
0.00004
|
|
NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp)
|
rs398124324
|
0.00004
|
|
NM_017780.4(CHD7):c.7680C>T (p.Pro2560=)
|
rs761548538
|
0.00004
|
|
NM_017780.4(CHD7):c.7831-3C>T
|
rs148884686
|
0.00004
|
|
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=)
|
rs188188906
|
0.00004
|
|
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser)
|
rs780161032
|
0.00004
|
|
NM_017780.4(CHD7):c.8213C>T (p.Thr2738Met)
|
rs761409446
|
0.00004
|
|
NM_017780.4(CHD7):c.8355C>T (p.Ala2785=)
|
rs370131873
|
0.00004
|
|
NM_017780.4(CHD7):c.8378C>G (p.Ala2793Gly)
|
rs774242976
|
0.00004
|
|
NM_017780.4(CHD7):c.8550T>C (p.Asn2850=)
|
rs199565939
|
0.00004
|
|
NM_017780.4(CHD7):c.8595G>A (p.Ser2865=)
|
rs757002335
|
0.00004
|
|
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu)
|
rs113938624
|
0.00004
|
|
NM_017780.4(CHD7):c.8644G>A (p.Gly2882Arg)
|
rs912988587
|
0.00004
|
|
NM_017780.4(CHD7):c.8874C>T (p.Ala2958=)
|
rs377755006
|
0.00004
|
|
NM_017780.4(CHD7):c.8919C>T (p.Asp2973=)
|
rs368038649
|
0.00004
|
|
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys)
|
rs574641900
|
0.00004
|
|
NM_181523.3(PIK3R1):c.1056C>T (p.Asp352=)
|
rs144238662
|
0.00004
|
|
NM_181523.3(PIK3R1):c.346C>A (p.Pro116Thr)
|
rs367923318
|
0.00004
|
|
NM_181523.3(PIK3R1):c.347C>T (p.Pro116Leu)
|
rs774531250
|
0.00004
|
|
NM_181523.3(PIK3R1):c.504T>A (p.Asp168Glu)
|
rs758929943
|
0.00004
|
|
NM_181523.3(PIK3R1):c.552C>T (p.Asp184=)
|
rs374140006
|
0.00004
|
|
NM_181523.3(PIK3R1):c.562C>T (p.Arg188Cys)
|
rs547196342
|
0.00004
|
|
NM_181523.3(PIK3R1):c.604G>A (p.Val202Ile)
|
rs747881833
|
0.00004
|
|
NM_181523.3(PIK3R1):c.717G>A (p.Thr239=)
|
rs745860837
|
0.00004
|
|
NM_181523.3(PIK3R1):c.845A>C (p.Asn282Thr)
|
rs771365361
|
0.00004
|
|
NM_000052.7(ATP7A):c.1103T>C (p.Leu368Ser)
|
rs372780635
|
0.00003
|
|
NM_000052.7(ATP7A):c.1226G>A (p.Arg409Gln)
|
rs201763950
|
0.00003
|
|
NM_000052.7(ATP7A):c.1379A>G (p.Glu460Gly)
|
rs1557232788
|
0.00003
|
|
NM_000052.7(ATP7A):c.1386G>A (p.Pro462=)
|
rs1297787618
|
0.00003
|
|
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)
|
rs782702847
|
0.00003
|
|
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp)
|
rs782603364
|
0.00003
|
|
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)
|
rs139902461
|
0.00003
|
|
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=)
|
rs72554638
|
0.00003
|
|
NM_000052.7(ATP7A):c.1870-12G>T
|
rs1203434891
|
0.00003
|
|
NM_000052.7(ATP7A):c.2052T>G (p.Asn684Lys)
|
rs781837620
|
0.00003
|
|
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg)
|
rs782577253
|
0.00003
|
|
NM_000052.7(ATP7A):c.2406+15G>C
|
rs782547388
|
0.00003
|
|
NM_000052.7(ATP7A):c.2406+18G>A
|
rs1243579823
|
0.00003
|
|
NM_000052.7(ATP7A):c.2582G>A (p.Arg861His)
|
rs782174967
|
0.00003
|
|
NM_000052.7(ATP7A):c.2680A>G (p.Ile894Val)
|
rs782430502
|
0.00003
|
|
NM_000052.7(ATP7A):c.3274A>G (p.Ile1092Val)
|
rs782513950
|
0.00003
|
|
NM_000052.7(ATP7A):c.3374A>G (p.Asn1125Ser)
|
rs782764064
|
0.00003
|
|
NM_000052.7(ATP7A):c.3500C>G (p.Ala1167Gly)
|
rs782231801
|
0.00003
|
|
NM_000052.7(ATP7A):c.3515C>T (p.Ala1172Val)
|
rs781866452
|
0.00003
|
|
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
|
rs1423719687
|
0.00003
|
|
NM_000052.7(ATP7A):c.4223A>C (p.Lys1408Thr)
|
rs936157944
|
0.00003
|
|
NM_000052.7(ATP7A):c.4244A>G (p.Tyr1415Cys)
|
rs1280037924
|
0.00003
|
|
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe)
|
rs1189381967
|
0.00003
|
|
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)
|
rs782774219
|
0.00003
|
|
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)
|
rs782237314
|
0.00003
|
|
NM_000052.7(ATP7A):c.849T>C (p.Ile283=)
|
rs782773745
|
0.00003
|
|
NM_000052.7(ATP7A):c.984A>G (p.Pro328=)
|
rs2077657952
|
0.00003
|
|
NM_000165.5(GJA1):c.365A>G (p.Asn122Ser)
|
rs769704488
|
0.00003
|
|
NM_000168.6(GLI3):c.1206C>T (p.Pro402=)
|
rs774831772
|
0.00003
|
|
NM_000168.6(GLI3):c.1320T>C (p.Asp440=)
|
rs750416636
|
0.00003
|
|
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr)
|
rs756581886
|
0.00003
|
|
NM_000168.6(GLI3):c.1485G>A (p.Glu495=)
|
rs149248727
|
0.00003
|
|
NM_000168.6(GLI3):c.199G>A (p.Gly67Arg)
|
rs374123528
|
0.00003
|
|
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)
|
rs754143860
|
0.00003
|
|
NM_000168.6(GLI3):c.294G>A (p.Ala98=)
|
rs758453658
|
0.00003
|
|
NM_000168.6(GLI3):c.313C>T (p.Arg105Cys)
|
rs555794809
|
0.00003
|
|
NM_000168.6(GLI3):c.3149C>T (p.Thr1050Met)
|
rs146556791
|
0.00003
|
|
NM_000168.6(GLI3):c.3624G>A (p.Gly1208=)
|
rs748737328
|
0.00003
|
|
NM_000168.6(GLI3):c.368-7T>G
|
rs74376818
|
0.00003
|
|
NM_000168.6(GLI3):c.3772C>G (p.Leu1258Val)
|
rs754908186
|
0.00003
|
|
NM_000168.6(GLI3):c.3804C>T (p.Leu1268=)
|
rs373193430
|
0.00003
|
|
NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys)
|
rs577664817
|
0.00003
|
|
NM_000168.6(GLI3):c.434G>A (p.Arg145His)
|
rs768622457
|
0.00003
|
|
NM_000168.6(GLI3):c.633A>G (p.Pro211=)
|
rs769152784
|
0.00003
|
|
NM_000168.6(GLI3):c.659G>A (p.Arg220His)
|
rs747805984
|
0.00003
|
|
NM_000168.6(GLI3):c.783C>T (p.Ala261=)
|
rs748769754
|
0.00003
|
|
NM_000168.6(GLI3):c.789G>A (p.Thr263=)
|
rs199918341
|
0.00003
|
|
NM_000346.4(SOX9):c.287A>G (p.Asn96Ser)
|
rs148407362
|
0.00003
|
|
NM_000346.4(SOX9):c.537G>A (p.Arg179=)
|
rs368864961
|
0.00003
|
|
NM_000346.4(SOX9):c.920C>G (p.Pro307Arg)
|
rs202028563
|
0.00003
|
|
NM_001271938.2(MEGF8):c.1057C>T (p.Arg353Cys)
|
rs554274233
|
0.00003
|
|
NM_001271938.2(MEGF8):c.1707C>T (p.Ser569=)
|
rs201780276
|
0.00003
|
|
NM_001271938.2(MEGF8):c.1992G>A (p.Ala664=)
|
rs753660883
|
0.00003
|
|
NM_001271938.2(MEGF8):c.2632G>A (p.Gly878Arg)
|
rs754432292
|
0.00003
|
|
NM_001271938.2(MEGF8):c.2961C>T (p.His987=)
|
rs760802467
|
0.00003
|
|
NM_001271938.2(MEGF8):c.326C>T (p.Pro109Leu)
|
rs768036287
|
0.00003
|
|
NM_001271938.2(MEGF8):c.3648C>T (p.His1216=)
|
rs144358189
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5411C>T (p.Ser1804Leu)
|
rs757227265
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5556C>T (p.Arg1852=)
|
rs756300122
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5601G>C (p.Leu1867=)
|
rs772768540
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5785C>T (p.Arg1929Trp)
|
rs529688057
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5858G>A (p.Arg1953His)
|
rs771233244
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5907T>C (p.Asn1969=)
|
rs751281117
|
0.00003
|
|
NM_001271938.2(MEGF8):c.6093C>T (p.Thr2031=)
|
rs992577271
|
0.00003
|
|
NM_001271938.2(MEGF8):c.6705C>T (p.Pro2235=)
|
rs149735243
|
0.00003
|
|
NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His)
|
rs757739507
|
0.00003
|
|
NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=)
|
rs773571688
|
0.00003
|
|
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln)
|
rs549715785
|
0.00003
|
|
NM_001379200.1(TBX1):c.1244G>A (p.Gly415Asp)
|
rs756543718
|
0.00003
|
|
NM_001379200.1(TBX1):c.1359C>T (p.His453=)
|
rs1220689917
|
0.00003
|
|
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)
|
rs753192876
|
0.00003
|
|
NM_001379200.1(TBX1):c.1440A>C (p.Ala480=)
|
rs777313046
|
0.00003
|
|
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu)
|
rs1464455403
|
0.00003
|
|
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val)
|
rs1383914204
|
0.00003
|
|
NM_001379200.1(TBX1):c.305G>A (p.Cys102Tyr)
|
rs948722131
|
0.00003
|
|
NM_001379200.1(TBX1):c.540-17A>C
|
rs750770662
|
0.00003
|
|
NM_001379200.1(TBX1):c.540-7G>A
|
rs372179395
|
0.00003
|
|
NM_001379200.1(TBX1):c.617C>T (p.Pro206Leu)
|
rs766608075
|
0.00003
|
|
NM_001379200.1(TBX1):c.711+7G>A
|
rs369332029
|
0.00003
|
|
NM_005996.4(TBX3):c.126C>T (p.Pro42=)
|
rs770418304
|
0.00003
|
|
NM_005996.4(TBX3):c.1971G>A (p.Leu657=)
|
rs757640161
|
0.00003
|
|
NM_006147.4(IRF6):c.351T>G (p.Pro117=)
|
rs550521875
|
0.00003
|
|
NM_006147.4(IRF6):c.888C>T (p.Asp296=)
|
rs748882482
|
0.00003
|
|
NM_006270.5(RRAS):c.175G>C (p.Asp59His)
|
rs775437600
|
0.00003
|
|
NM_006270.5(RRAS):c.241+9G>A
|
rs750643775
|
0.00003
|
|
NM_006270.5(RRAS):c.291C>T (p.Tyr97=)
|
rs780638908
|
0.00003
|
|
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser)
|
rs745911237
|
0.00003
|
|
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys)
|
rs533583599
|
0.00003
|
|
NM_006270.5(RRAS):c.461G>A (p.Arg154Gln)
|
rs1039650903
|
0.00003
|
|
NM_006270.5(RRAS):c.573-13C>T
|
rs372538436
|
0.00003
|
|
NM_006270.5(RRAS):c.573-19C>G
|
rs377060262
|
0.00003
|
|
NM_006270.5(RRAS):c.649C>G (p.Leu217Val)
|
rs988964363
|
0.00003
|
|
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp)
|
rs754976061
|
0.00003
|
|
NM_006912.6(RIT1):c.45C>G (p.Pro15=)
|
rs748838734
|
0.00003
|
|
NM_006912.6(RIT1):c.498A>C (p.Ala166=)
|
rs375734733
|
0.00003
|
|
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys)
|
rs763208084
|
0.00003
|
|
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=)
|
rs753698896
|
0.00003
|
|
NM_006939.4(SOS2):c.1069-10T>C
|
rs201686942
|
0.00003
|
|
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
|
rs375244948
|
0.00003
|
|
NM_006939.4(SOS2):c.1282G>A (p.Asp428Asn)
|
rs146283711
|
0.00003
|
|
NM_006939.4(SOS2):c.1356T>C (p.Gly452=)
|
rs746956553
|
0.00003
|
|
NM_006939.4(SOS2):c.1417C>T (p.His473Tyr)
|
rs756637706
|
0.00003
|
|
NM_006939.4(SOS2):c.1852+18C>G
|
rs768521644
|
0.00003
|
|
NM_006939.4(SOS2):c.2604C>T (p.Gly868=)
|
rs765945171
|
0.00003
|
|
NM_006939.4(SOS2):c.260T>C (p.Ile87Thr)
|
rs747274422
|
0.00003
|
|
NM_006939.4(SOS2):c.2668-4T>C
|
rs763298498
|
0.00003
|
|
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile)
|
rs776000121
|
0.00003
|
|
NM_006939.4(SOS2):c.3380-15C>G
|
rs748112343
|
0.00003
|
|
NM_006939.4(SOS2):c.3490-14C>T
|
rs200796041
|
0.00003
|
|
NM_006939.4(SOS2):c.3490-3G>T
|
rs1399710421
|
0.00003
|
|
NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr)
|
rs764483791
|
0.00003
|
|
NM_006939.4(SOS2):c.3606T>C (p.Ser1202=)
|
rs539432390
|
0.00003
|
|
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys)
|
rs1005498417
|
0.00003
|
|
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=)
|
rs527576404
|
0.00003
|
|
NM_006939.4(SOS2):c.540C>T (p.Asp180=)
|
rs189555369
|
0.00003
|
|
NM_006939.4(SOS2):c.63A>G (p.Gly21=)
|
rs761849560
|
0.00003
|
|
NM_006939.4(SOS2):c.927C>T (p.Phe309=)
|
rs1308740864
|
0.00003
|
|
NM_012431.3(SEMA3E):c.1667+7C>T
|
rs757094477
|
0.00003
|
|
NM_012431.3(SEMA3E):c.1944T>C (p.Asp648=)
|
rs199840463
|
0.00003
|
|
NM_012431.3(SEMA3E):c.2054A>G (p.Asp685Gly)
|
rs747326285
|
0.00003
|
|
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu)
|
rs121918341
|
0.00003
|
|
NM_012431.3(SEMA3E):c.2316G>A (p.Thr772=)
|
rs753767962
|
0.00003
|
|
NM_012431.3(SEMA3E):c.339T>C (p.Gly113=)
|
rs564120268
|
0.00003
|
|
NM_012431.3(SEMA3E):c.359G>A (p.Arg120Gln)
|
rs781381659
|
0.00003
|
|
NM_012431.3(SEMA3E):c.551-6G>A
|
rs535143722
|
0.00003
|
|
NM_012431.3(SEMA3E):c.754G>T (p.Ala252Ser)
|
rs779163443
|
0.00003
|
|
NM_012431.3(SEMA3E):c.94C>T (p.Arg32Trp)
|
rs774777538
|
0.00003
|
|
NM_017780.4(CHD7):c.1373C>G (p.Ser458Cys)
|
rs767302034
|
0.00003
|
|
NM_017780.4(CHD7):c.1380A>G (p.Pro460=)
|
rs746064587
|
0.00003
|
|
NM_017780.4(CHD7):c.1563G>A (p.Pro521=)
|
rs765356585
|
0.00003
|
|
NM_017780.4(CHD7):c.1644G>A (p.Pro548=)
|
rs748842029
|
0.00003
|
|
NM_017780.4(CHD7):c.1677G>A (p.Ser559=)
|
rs568348314
|
0.00003
|
|
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu)
|
rs776871277
|
0.00003
|
|
NM_017780.4(CHD7):c.1968G>A (p.Pro656=)
|
rs569213080
|
0.00003
|
|
NM_017780.4(CHD7):c.2096+11G>A
|
rs895506618
|
0.00003
|
|
NM_017780.4(CHD7):c.2097-20C>T
|
rs569155117
|
0.00003
|
|
NM_017780.4(CHD7):c.2176G>T (p.Asp726Tyr)
|
rs748119797
|
0.00003
|
|
NM_017780.4(CHD7):c.2307T>C (p.Asp769=)
|
rs574260169
|
0.00003
|
|
NM_017780.4(CHD7):c.2347C>T (p.Pro783Ser)
|
rs373873996
|
0.00003
|
|
NM_017780.4(CHD7):c.2457G>A (p.Glu819=)
|
rs1060504849
|
0.00003
|
|
NM_017780.4(CHD7):c.2614-7G>T
|
rs762399977
|
0.00003
|
|
NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp)
|
rs773773546
|
0.00003
|
|
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)
|
rs779024959
|
0.00003
|
|
NM_017780.4(CHD7):c.3190A>G (p.Lys1064Glu)
|
rs200565677
|
0.00003
|
|
NM_017780.4(CHD7):c.4242G>T (p.Leu1414=)
|
rs371910721
|
0.00003
|
|
NM_017780.4(CHD7):c.4377A>G (p.Glu1459=)
|
rs1278636503
|
0.00003
|
|
NM_017780.4(CHD7):c.4413A>G (p.Ala1471=)
|
rs746168554
|
0.00003
|
|
NM_017780.4(CHD7):c.4534-19G>A
|
rs1386563597
|
0.00003
|
|
NM_017780.4(CHD7):c.4881C>T (p.His1627=)
|
rs774433565
|
0.00003
|
|
NM_017780.4(CHD7):c.4894C>T (p.Arg1632Cys)
|
rs545545721
|
0.00003
|
|
NM_017780.4(CHD7):c.5049C>T (p.Ser1683=)
|
rs529369619
|
0.00003
|
|
NM_017780.4(CHD7):c.5211-12C>T
|
rs752789319
|
0.00003
|
|
NM_017780.4(CHD7):c.5271G>A (p.Ala1757=)
|
rs775003129
|
0.00003
|
|
NM_017780.4(CHD7):c.5535-4A>G
|
rs777671269
|
0.00003
|
|
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)
|
rs200441929
|
0.00003
|
|
NM_017780.4(CHD7):c.6098A>G (p.Asp2033Gly)
|
rs369023995
|
0.00003
|
|
NM_017780.4(CHD7):c.6454C>G (p.Gln2152Glu)
|
rs373241264
|
0.00003
|
|
NM_017780.4(CHD7):c.6468C>T (p.Val2156=)
|
rs777858802
|
0.00003
|
|
NM_017780.4(CHD7):c.6480T>G (p.Ala2160=)
|
rs746037662
|
0.00003
|
|
NM_017780.4(CHD7):c.6529G>A (p.Glu2177Lys)
|
rs750047137
|
0.00003
|
|
NM_017780.4(CHD7):c.6669C>T (p.Val2223=)
|
rs556577614
|
0.00003
|
|
NM_017780.4(CHD7):c.6677A>G (p.Asp2226Gly)
|
rs755396598
|
0.00003
|
|
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)
|
rs367615733
|
0.00003
|
|
NM_017780.4(CHD7):c.67G>A (p.Gly23Ser)
|
rs763058890
|
0.00003
|
|
NM_017780.4(CHD7):c.7107C>T (p.Val2369=)
|
rs773674773
|
0.00003
|
|
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu)
|
rs199966549
|
0.00003
|
|
NM_017780.4(CHD7):c.7248G>A (p.Lys2416=)
|
rs768074891
|
0.00003
|
|
NM_017780.4(CHD7):c.7570C>T (p.Leu2524=)
|
rs751931671
|
0.00003
|
|
NM_017780.4(CHD7):c.7591C>T (p.Arg2531Trp)
|
rs369550114
|
0.00003
|
|
NM_017780.4(CHD7):c.7746G>A (p.Gly2582=)
|
rs746591351
|
0.00003
|
|
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr)
|
rs370231679
|
0.00003
|
|
NM_017780.4(CHD7):c.8508G>A (p.Pro2836=)
|
rs371399850
|
0.00003
|
|
NM_017780.4(CHD7):c.8586T>C (p.Asp2862=)
|
rs756572992
|
0.00003
|
|
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=)
|
rs375459176
|
0.00003
|
|
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala)
|
rs754831415
|
0.00003
|
|
NM_017780.4(CHD7):c.8802C>T (p.Ser2934=)
|
rs778908675
|
0.00003
|
|
NM_022455.5(NSD1):c.3698G>A (p.Arg1233Gln)
|
rs774868314
|
0.00003
|
|
NM_080647.1(TBX1):c.15C>A (p.Thr5=)
|
rs764497467
|
0.00003
|
|
NM_181523.3(PIK3R1):c.108C>A (p.Ser36=)
|
rs775593894
|
0.00003
|
|
NM_181523.3(PIK3R1):c.1507C>A (p.Arg503=)
|
rs759347287
|
0.00003
|
|
NM_181523.3(PIK3R1):c.29C>T (p.Ala10Val)
|
rs767837787
|
0.00003
|
|
NM_181523.3(PIK3R1):c.513C>T (p.Ser171=)
|
rs781475250
|
0.00003
|
|
NM_181523.3(PIK3R1):c.514G>A (p.Val172Met)
|
rs112487959
|
0.00003
|
|
NM_181523.3(PIK3R1):c.889G>A (p.Glu297Lys)
|
rs763278796
|
0.00003
|
|
NM_181523.3(PIK3R1):c.961G>A (p.Gly321Ser)
|
rs142439210
|
0.00003
|
|
NM_000052.7(ATP7A):c.1019C>T (p.Pro340Leu)
|
rs1557231845
|
0.00002
|
|
NM_000052.7(ATP7A):c.1082C>T (p.Ser361Leu)
|
rs782651571
|
0.00002
|
|
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser)
|
rs1557231883
|
0.00002
|
|
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr)
|
rs1557229686
|
0.00002
|
|
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro)
|
rs374530062
|
0.00002
|
|
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile)
|
rs782058395
|
0.00002
|
|
NM_000052.7(ATP7A):c.1429C>T (p.Pro477Ser)
|
rs879981699
|
0.00002
|
|
NM_000052.7(ATP7A):c.1455G>T (p.Lys485Asn)
|
rs782083382
|
0.00002
|
|
NM_000052.7(ATP7A):c.1543+9C>G
|
rs367977602
|
0.00002
|
|
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)
|
rs781952393
|
0.00002
|
|
NM_000052.7(ATP7A):c.1749G>A (p.Glu583=)
|
rs375479026
|
0.00002
|
|
NM_000052.7(ATP7A):c.1756C>G (p.Leu586Val)
|
rs782444523
|
0.00002
|
|
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)
|
rs781959472
|
0.00002
|
|
NM_000052.7(ATP7A):c.1816A>G (p.Ile606Val)
|
rs781961626
|
0.00002
|
|
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala)
|
rs1308442670
|
0.00002
|
|
NM_000052.7(ATP7A):c.1974G>C (p.Leu658=)
|
rs781957241
|
0.00002
|
|
NM_000052.7(ATP7A):c.2029C>G (p.His677Asp)
|
rs782761381
|
0.00002
|
|
NM_000052.7(ATP7A):c.2079C>G (p.Ile693Met)
|
rs782269377
|
0.00002
|
|
NM_000052.7(ATP7A):c.2107C>T (p.Arg703Cys)
|
rs782555092
|
0.00002
|
|
NM_000052.7(ATP7A):c.2173-7A>T
|
rs376179410
|
0.00002
|
|
NM_000052.7(ATP7A):c.2178C>T (p.Phe726=)
|
rs572956005
|
0.00002
|
|
NM_000052.7(ATP7A):c.2225A>G (p.Lys742Arg)
|
rs782664014
|
0.00002
|
|
NM_000052.7(ATP7A):c.2277C>G (p.Ala759=)
|
rs1473914623
|
0.00002
|
|
NM_000052.7(ATP7A):c.2385A>G (p.Arg795=)
|
rs1445955792
|
0.00002
|
|
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu)
|
rs782602356
|
0.00002
|
|
NM_000052.7(ATP7A):c.2532T>G (p.Arg844=)
|
rs782315761
|
0.00002
|
|
NM_000052.7(ATP7A):c.2597A>G (p.His866Arg)
|
rs1264242478
|
0.00002
|
|
NM_000052.7(ATP7A):c.2710G>A (p.Ala904Thr)
|
rs1427317043
|
0.00002
|
|
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)
|
rs146119866
|
0.00002
|
|
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=)
|
rs781835541
|
0.00002
|
|
NM_000052.7(ATP7A):c.2916+10T>G
|
rs2077902893
|
0.00002
|
|
NM_000052.7(ATP7A):c.2917-9C>T
|
rs188421674
|
0.00002
|
|
NM_000052.7(ATP7A):c.2948C>T (p.Thr983Met)
|
rs782094358
|
0.00002
|
|
NM_000052.7(ATP7A):c.317C>T (p.Thr106Ile)
|
rs782647620
|
0.00002
|
|
NM_000052.7(ATP7A):c.3262C>G (p.Leu1088Val)
|
rs782463394
|
0.00002
|
|
NM_000052.7(ATP7A):c.3294+5A>C
|
rs370596012
|
0.00002
|
|
NM_000052.7(ATP7A):c.3358A>G (p.Ser1120Gly)
|
rs781914030
|
0.00002
|
|
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)
|
rs374154862
|
0.00002
|
|
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=)
|
rs1179465472
|
0.00002
|
|
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)
|
rs1557238006
|
0.00002
|
|
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser)
|
rs782250966
|
0.00002
|
|
NM_000052.7(ATP7A):c.3592G>A (p.Asp1198Asn)
|
rs1374099672
|
0.00002
|
|
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)
|
rs1385333276
|
0.00002
|
|
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)
|
rs782428979
|
0.00002
|
|
NM_000052.7(ATP7A):c.4006-10C>T
|
rs782741784
|
0.00002
|
|
NM_000052.7(ATP7A):c.4006-7T>C
|
rs1406270253
|
0.00002
|
|
NM_000052.7(ATP7A):c.4058A>G (p.Lys1353Arg)
|
rs781912153
|
0.00002
|
|
NM_000052.7(ATP7A):c.406G>A (p.Ala136Thr)
|
rs781912401
|
0.00002
|
|
NM_000052.7(ATP7A):c.4124-17C>T
|
rs371435031
|
0.00002
|
|
NM_000052.7(ATP7A):c.4227-1G>A
|
rs782283173
|
0.00002
|
|
NM_000052.7(ATP7A):c.4245C>T (p.Tyr1415=)
|
rs782346811
|
0.00002
|
|
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)
|
rs782232632
|
0.00002
|
|
NM_000052.7(ATP7A):c.4356G>C (p.Leu1452Phe)
|
rs782364202
|
0.00002
|
|
NM_000052.7(ATP7A):c.4422A>G (p.Leu1474=)
|
rs1557239138
|
0.00002
|
|
NM_000052.7(ATP7A):c.502G>A (p.Ala168Thr)
|
rs781838499
|
0.00002
|
|
NM_000052.7(ATP7A):c.588G>A (p.Leu196=)
|
rs782253237
|
0.00002
|
|
NM_000052.7(ATP7A):c.611-7T>C
|
rs781898993
|
0.00002
|
|
NM_000052.7(ATP7A):c.6T>C (p.Asp2=)
|
rs951178780
|
0.00002
|
|
NM_000052.7(ATP7A):c.705A>C (p.Pro235=)
|
rs199608277
|
0.00002
|
|
NM_000052.7(ATP7A):c.817T>C (p.Tyr273His)
|
rs1557231780
|
0.00002
|
|
NM_000052.7(ATP7A):c.840T>G (p.Thr280=)
|
rs782713333
|
0.00002
|
|
NM_000052.7(ATP7A):c.909A>G (p.Gln303=)
|
rs372389715
|
0.00002
|
|
NM_000165.5(GJA1):c.1065A>G (p.Pro355=)
|
rs1260325021
|
0.00002
|
|
NM_000165.5(GJA1):c.120G>A (p.Ala40=)
|
rs1265524797
|
0.00002
|
|
NM_000165.5(GJA1):c.624C>T (p.Ile208=)
|
rs530633057
|
0.00002
|
|
NM_000165.5(GJA1):c.885T>C (p.Asn295=)
|
rs370436837
|
0.00002
|
|
NM_000168.6(GLI3):c.1242+16C>T
|
rs754808194
|
0.00002
|
|
NM_000168.6(GLI3):c.1253C>T (p.Thr418Met)
|
rs757359712
|
0.00002
|
|
NM_000168.6(GLI3):c.1474G>A (p.Asp492Asn)
|
rs886320788
|
0.00002
|
|
NM_000168.6(GLI3):c.1620C>T (p.His540=)
|
rs1334320179
|
0.00002
|
|
NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser)
|
rs200913720
|
0.00002
|
|
NM_000168.6(GLI3):c.2409G>A (p.Ala803=)
|
rs138416748
|
0.00002
|
|
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys)
|
rs143406263
|
0.00002
|
|
NM_000168.6(GLI3):c.320C>T (p.Thr107Met)
|
rs769350082
|
0.00002
|
|
NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile)
|
rs1374541235
|
0.00002
|
|
NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg)
|
rs757059523
|
0.00002
|
|
NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg)
|
rs756156901
|
0.00002
|
|
NM_000168.6(GLI3):c.3864G>A (p.Gly1288=)
|
rs369272004
|
0.00002
|
|
NM_000168.6(GLI3):c.4560G>A (p.Ser1520=)
|
rs79625212
|
0.00002
|
|
NM_000168.6(GLI3):c.4629G>A (p.Ala1543=)
|
rs975131125
|
0.00002
|
|
NM_000168.6(GLI3):c.658C>T (p.Arg220Cys)
|
rs758039889
|
0.00002
|
|
NM_000168.6(GLI3):c.743G>A (p.Arg248His)
|
rs186337909
|
0.00002
|
|
NM_000168.6(GLI3):c.935C>T (p.Thr312Met)
|
rs772929930
|
0.00002
|
|
NM_000346.4(SOX9):c.1169G>C (p.Gly390Ala)
|
rs750284138
|
0.00002
|
|
NM_000346.4(SOX9):c.1197G>C (p.Thr399=)
|
rs777943068
|
0.00002
|
|
NM_000346.4(SOX9):c.1510A>G (p.Thr504Ala)
|
rs149888060
|
0.00002
|
|
NM_000346.4(SOX9):c.48G>A (p.Lys16=)
|
rs1412757423
|
0.00002
|
|
NM_000346.4(SOX9):c.559G>C (p.Ala187Pro)
|
rs771056492
|
0.00002
|
|
NM_000346.4(SOX9):c.582G>A (p.Glu194=)
|
rs769303668
|
0.00002
|
|
NM_000346.4(SOX9):c.685+12C>T
|
rs200724816
|
0.00002
|
|
NM_000346.4(SOX9):c.76A>G (p.Met26Val)
|
rs575451633
|
0.00002
|
|
NM_000346.4(SOX9):c.924C>T (p.Ala308=)
|
rs577872434
|
0.00002
|
|
NM_000346.4(SOX9):c.948G>A (p.Thr316=)
|
rs773254646
|
0.00002
|
|
NM_000346.4(SOX9):c.965G>A (p.Ser322Asn)
|
rs1239456905
|
0.00002
|
|
NM_001271938.2(MEGF8):c.1079C>T (p.Ser360Phe)
|
rs1064796651
|
0.00002
|
|
NM_001271938.2(MEGF8):c.1315C>T (p.Arg439Trp)
|
rs769862975
|
0.00002
|
|
NM_001271938.2(MEGF8):c.1496C>T (p.Pro499Leu)
|
rs993849381
|
0.00002
|
|
NM_001271938.2(MEGF8):c.1626G>A (p.Ala542=)
|
rs1053183256
|
0.00002
|
|
NM_001271938.2(MEGF8):c.2724C>T (p.His908=)
|
rs752713774
|
0.00002
|
|
NM_001271938.2(MEGF8):c.3311G>A (p.Arg1104Gln)
|
rs1460568797
|
0.00002
|
|
NM_001271938.2(MEGF8):c.412C>T (p.Arg138Cys)
|
rs760894078
|
0.00002
|
|
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys)
|
rs747096596
|
0.00002
|
|
NM_001271938.2(MEGF8):c.5364C>T (p.His1788=)
|
rs1038902556
|
0.00002
|
|
NM_001271938.2(MEGF8):c.5752A>G (p.Met1918Val)
|
rs768713408
|
0.00002
|
|
NM_001271938.2(MEGF8):c.5809C>T (p.Arg1937Cys)
|
rs777955709
|
0.00002
|
|
NM_001271938.2(MEGF8):c.5868G>T (p.Trp1956Cys)
|
rs1205847294
|
0.00002
|
|
NM_001271938.2(MEGF8):c.6540C>T (p.Asp2180=)
|
rs781099770
|
0.00002
|
|
NM_001271938.2(MEGF8):c.6834+11C>T
|
rs369152755
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7099C>T (p.Leu2367=)
|
rs768745459
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7184C>T (p.Thr2395Met)
|
rs758007485
|
0.00002
|
|
NM_001271938.2(MEGF8):c.739+3G>A
|
rs772336647
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln)
|
rs754329335
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln)
|
rs764185083
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp)
|
rs768902189
|
0.00002
|
|
NM_001365902.3(NFIX):c.105G>A (p.Ala35=)
|
rs761426805
|
0.00002
|
|
NM_001365902.3(NFIX):c.1248C>G (p.Thr416=)
|
rs372077833
|
0.00002
|
|
NM_001379200.1(TBX1):c.1041G>T (p.Ala347=)
|
rs1381402015
|
0.00002
|
|
NM_001379200.1(TBX1):c.1170C>T (p.Gly390=)
|
rs1936852453
|
0.00002
|
|
NM_001379200.1(TBX1):c.1186G>C (p.Gly396Arg)
|
rs1377774172
|
0.00002
|
|
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly)
|
rs745858331
|
0.00002
|
|
NM_001379200.1(TBX1):c.1271C>G (p.Pro424Arg)
|
rs767961877
|
0.00002
|
|
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp)
|
rs1177085596
|
0.00002
|
|
NM_001379200.1(TBX1):c.1386C>A (p.His462Gln)
|
rs1172793466
|
0.00002
|
|
NM_001379200.1(TBX1):c.1433C>T (p.Ala478Val)
|
rs757867291
|
0.00002
|
|
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His)
|
rs746250147
|
0.00002
|
|
NM_001379200.1(TBX1):c.1485G>T (p.Pro495=)
|
rs750574356
|
0.00002
|
|
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg)
|
rs756769832
|
0.00002
|
|
NM_001379200.1(TBX1):c.270C>A (p.Ser90Arg)
|
rs1478778776
|
0.00002
|
|
NM_001379200.1(TBX1):c.286G>C (p.Glu96Gln)
|
rs762629442
|
0.00002
|
|
NM_001379200.1(TBX1):c.393G>A (p.Glu131=)
|
rs892270450
|
0.00002
|
|
NM_001379200.1(TBX1):c.472G>A (p.Gly158Ser)
|
rs909599095
|
0.00002
|
|
NM_001379200.1(TBX1):c.540-12G>A
|
rs1243576480
|
0.00002
|
|
NM_001379200.1(TBX1):c.543C>T (p.Tyr181=)
|
rs772390067
|
0.00002
|
|
NM_001379200.1(TBX1):c.582C>T (p.Ala194=)
|
rs775502763
|
0.00002
|
|
NM_001379200.1(TBX1):c.618G>A (p.Pro206=)
|
rs1177792242
|
0.00002
|
|
NM_001379200.1(TBX1):c.753C>T (p.His251=)
|
rs201412495
|
0.00002
|
|
NM_001379200.1(TBX1):c.922G>C (p.Asp308His)
|
rs750330152
|
0.00002
|
|
NM_001379200.1(TBX1):c.97G>T (p.Ala33Ser)
|
rs1359119941
|
0.00002
|
|
NM_003106.4(SOX2):c.45G>A (p.Gln15=)
|
rs776333710
|
0.00002
|
|
NM_003106.4(SOX2):c.76A>G (p.Thr26Ala)
|
rs749464287
|
0.00002
|
|
NM_005996.4(TBX3):c.1301G>A (p.Arg434His)
|
rs758811184
|
0.00002
|
|
NM_006270.5(RRAS):c.10G>T (p.Gly4Trp)
|
rs2081015843
|
0.00002
|
|
NM_006270.5(RRAS):c.232C>T (p.Arg78Trp)
|
rs755565332
|
0.00002
|
|
NM_006270.5(RRAS):c.242-8C>T
|
rs370459010
|
0.00002
|
|
NM_006270.5(RRAS):c.454-19G>A
|
rs776793181
|
0.00002
|
|
NM_006270.5(RRAS):c.487T>C (p.Ser163Pro)
|
rs1446034967
|
0.00002
|
|
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser)
|
rs762794552
|
0.00002
|
|
NM_006270.5(RRAS):c.572+20T>G
|
rs1017127642
|
0.00002
|
|
NM_006270.5(RRAS):c.573-16T>A
|
rs756598983
|
0.00002
|
|
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn)
|
rs771557284
|
0.00002
|
|
NM_006270.5(RRAS):c.94C>T (p.Leu32=)
|
rs764926027
|
0.00002
|
|
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)
|
rs1213963509
|
0.00002
|
|
NM_006912.6(RIT1):c.368G>A (p.Arg123His)
|
rs977405637
|
0.00002
|
|
NM_006912.6(RIT1):c.646G>A (p.Asp216Asn)
|
rs545031201
|
0.00002
|
|
NM_006939.4(SOS2):c.1156G>C (p.Asp386His)
|
rs776909576
|
0.00002
|
|
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser)
|
rs201821194
|
0.00002
|
|
NM_006939.4(SOS2):c.1256A>C (p.Lys419Thr)
|
rs199998698
|
0.00002
|
|
NM_006939.4(SOS2):c.1392C>T (p.Gly464=)
|
rs188355135
|
0.00002
|
|
NM_006939.4(SOS2):c.156T>A (p.Ile52=)
|
rs1343609817
|
0.00002
|
|
NM_006939.4(SOS2):c.1669T>C (p.Leu557=)
|
rs370600053
|
0.00002
|
|
NM_006939.4(SOS2):c.2049A>G (p.Val683=)
|
rs748361433
|
0.00002
|
|
NM_006939.4(SOS2):c.2115C>T (p.Asp705=)
|
rs761930547
|
0.00002
|
|
NM_006939.4(SOS2):c.2191A>G (p.Ile731Val)
|
rs746664310
|
0.00002
|
|
NM_006939.4(SOS2):c.2315T>G (p.Phe772Cys)
|
rs200715068
|
0.00002
|
|
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser)
|
rs774498876
|
0.00002
|
|
NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys)
|
rs760520078
|
0.00002
|
|
NM_006939.4(SOS2):c.2384+5A>G
|
rs376903120
|
0.00002
|
|
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu)
|
rs773672997
|
0.00002
|
|
NM_006939.4(SOS2):c.2492T>G (p.Leu831Arg)
|
rs553153992
|
0.00002
|
|
NM_006939.4(SOS2):c.2541G>A (p.Val847=)
|
rs1884432722
|
0.00002
|
|
NM_006939.4(SOS2):c.2590A>T (p.Asn864Tyr)
|
rs781119008
|
0.00002
|
|
NM_006939.4(SOS2):c.2786-5dup
|
rs768715951
|
0.00002
|
|
NM_006939.4(SOS2):c.3338-4A>G
|
rs777684425
|
0.00002
|
|
NM_006939.4(SOS2):c.3339C>T (p.Gly1113=)
|
rs756164627
|
0.00002
|
|
NM_006939.4(SOS2):c.3380-16T>A
|
rs1174938001
|
0.00002
|
|
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly)
|
rs375478974
|
0.00002
|
|
NM_006939.4(SOS2):c.3495T>C (p.Asn1165=)
|
rs756887073
|
0.00002
|
|
NM_006939.4(SOS2):c.3523A>G (p.Ile1175Val)
|
rs774571340
|
0.00002
|
|
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)
|
rs139401491
|
0.00002
|
|
NM_006939.4(SOS2):c.3641A>T (p.Asp1214Val)
|
rs772043913
|
0.00002
|
|
NM_006939.4(SOS2):c.364G>A (p.Val122Met)
|
rs1208838203
|
0.00002
|
|
NM_006939.4(SOS2):c.3681T>G (p.Phe1227Leu)
|
rs748607274
|
0.00002
|
|
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
|
rs752525400
|
0.00002
|
|
NM_006939.4(SOS2):c.3758G>C (p.Ser1253Thr)
|
rs762593451
|
0.00002
|
|
NM_006939.4(SOS2):c.430T>C (p.Leu144=)
|
rs746938099
|
0.00002
|
|
NM_006939.4(SOS2):c.714T>G (p.Ser238=)
|
rs750665891
|
0.00002
|
|
NM_006939.4(SOS2):c.929A>G (p.Asn310Ser)
|
rs746412601
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1084G>A (p.Gly362Arg)
|
rs751565672
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1172A>T (p.Tyr391Phe)
|
rs753965043
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1303C>G (p.Gln435Glu)
|
rs752774852
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1320A>G (p.Arg440=)
|
rs750937375
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1383G>T (p.Leu461=)
|
rs139043841
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1413G>A (p.Met471Ile)
|
rs752959572
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1500+5G>A
|
rs201772961
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=)
|
rs574901886
|
0.00002
|
|
NM_012431.3(SEMA3E):c.1997G>A (p.Arg666His)
|
rs779454555
|
0.00002
|
|
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
|
rs538244011
|
0.00002
|
|
NM_012431.3(SEMA3E):c.2320G>T (p.Asp774Tyr)
|
rs767621375
|
0.00002
|
|
NM_012431.3(SEMA3E):c.266G>A (p.Gly89Asp)
|
rs773688938
|
0.00002
|
|
NM_012431.3(SEMA3E):c.267C>T (p.Gly89=)
|
rs375209449
|
0.00002
|
|
NM_012431.3(SEMA3E):c.335C>T (p.Ala112Val)
|
rs780025635
|
0.00002
|
|
NM_012431.3(SEMA3E):c.446A>G (p.Tyr149Cys)
|
rs775302619
|
0.00002
|
|
NM_012431.3(SEMA3E):c.659G>A (p.Arg220His)
|
rs150833995
|
0.00002
|
|
NM_012431.3(SEMA3E):c.671-19C>A
|
rs375797663
|
0.00002
|
|
NM_012431.3(SEMA3E):c.796G>A (p.Val266Ile)
|
rs762866887
|
0.00002
|
|
NM_012431.3(SEMA3E):c.798C>T (p.Val266=)
|
rs1475070881
|
0.00002
|
|
NM_012431.3(SEMA3E):c.929-10A>G
|
rs1032615953
|
0.00002
|
|
NM_016277.5(RAB23):c.57A>G (p.Ala19=)
|
rs750598308
|
0.00002
|
|
NM_016277.5(RAB23):c.606C>T (p.Ser202=)
|
rs771204930
|
0.00002
|
|
NM_017780.4(CHD7):c.1053A>G (p.Val351=)
|
rs199880694
|
0.00002
|
|
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu)
|
rs765180149
|
0.00002
|
|
NM_017780.4(CHD7):c.1261C>A (p.Pro421Thr)
|
rs758228667
|
0.00002
|
|
NM_017780.4(CHD7):c.1813C>G (p.His605Asp)
|
rs534225918
|
0.00002
|
|
NM_017780.4(CHD7):c.1867G>C (p.Gly623Arg)
|
rs375905260
|
0.00002
|
|
NM_017780.4(CHD7):c.208G>C (p.Asp70His)
|
rs759847780
|
0.00002
|
|
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys)
|
rs767819417
|
0.00002
|
|
NM_017780.4(CHD7):c.2189C>T (p.Thr730Ile)
|
rs552946889
|
0.00002
|
|
NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg)
|
rs1441258013
|
0.00002
|
|
NM_017780.4(CHD7):c.2443-4dup
|
rs1207292215
|
0.00002
|
|
NM_017780.4(CHD7):c.2523A>G (p.Ala841=)
|
rs970128606
|
0.00002
|
|
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp)
|
rs371742009
|
0.00002
|
|
NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln)
|
rs773685788
|
0.00002
|
|
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala)
|
rs370194460
|
0.00002
|
|
NM_017780.4(CHD7):c.2830C>T (p.Arg944Cys)
|
rs587783435
|
0.00002
|
|
NM_017780.4(CHD7):c.288C>T (p.Asn96=)
|
rs754953018
|
0.00002
|
|
NM_017780.4(CHD7):c.2945A>G (p.Asn982Ser)
|
rs886044146
|
0.00002
|
|
NM_017780.4(CHD7):c.296C>T (p.Ala99Val)
|
rs772466277
|
0.00002
|
|
NM_017780.4(CHD7):c.3044T>C (p.Ile1015Thr)
|
rs1374888110
|
0.00002
|
|
NM_017780.4(CHD7):c.304C>A (p.His102Asn)
|
rs761253760
|
0.00002
|
|
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val)
|
rs1271767085
|
0.00002
|
|
NM_017780.4(CHD7):c.3464G>A (p.Arg1155His)
|
rs762669262
|
0.00002
|
|
NM_017780.4(CHD7):c.3487A>G (p.Met1163Val)
|
rs886044534
|
0.00002
|
|
NM_017780.4(CHD7):c.355G>T (p.Gly119Cys)
|
rs764675280
|
0.00002
|
|
NM_017780.4(CHD7):c.3696C>T (p.Gly1232=)
|
rs774107363
|
0.00002
|
|
NM_017780.4(CHD7):c.3711C>T (p.Asn1237=)
|
rs372498366
|
0.00002
|
|
NM_017780.4(CHD7):c.3989+7A>G
|
rs757622396
|
0.00002
|
|
NM_017780.4(CHD7):c.4002A>G (p.Glu1334=)
|
rs752377617
|
0.00002
|
|
NM_017780.4(CHD7):c.4016G>A (p.Arg1339Gln)
|
rs770876591
|
0.00002
|
|
NM_017780.4(CHD7):c.4185+19C>T
|
rs767064028
|
0.00002
|
|
NM_017780.4(CHD7):c.4359A>G (p.Gln1453=)
|
rs749531765
|
0.00002
|
|
NM_017780.4(CHD7):c.4534-4T>G
|
rs762875935
|
0.00002
|
|
NM_017780.4(CHD7):c.4692C>G (p.Leu1564=)
|
rs777176819
|
0.00002
|
|
NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu)
|
rs371385411
|
0.00002
|
|
NM_017780.4(CHD7):c.4746T>C (p.Asp1582=)
|
rs771978086
|
0.00002
|
|
NM_017780.4(CHD7):c.4774C>T (p.Arg1592Trp)
|
rs773187713
|
0.00002
|
|
NM_017780.4(CHD7):c.4850+19G>A
|
rs746769941
|
0.00002
|
|
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu)
|
rs61742851
|
0.00002
|
|
NM_017780.4(CHD7):c.5016G>A (p.Ala1672=)
|
rs370321135
|
0.00002
|
|
NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn)
|
rs769563309
|
0.00002
|
|
NM_017780.4(CHD7):c.5050+20T>A
|
rs760955712
|
0.00002
|
|
NM_017780.4(CHD7):c.516G>A (p.Pro172=)
|
rs377332156
|
0.00002
|
|
NM_017780.4(CHD7):c.5210+16G>T
|
rs747154720
|
0.00002
|
|
NM_017780.4(CHD7):c.5214C>T (p.Val1738=)
|
rs756430456
|
0.00002
|
|
NM_017780.4(CHD7):c.5336C>T (p.Ala1779Val)
|
rs753913368
|
0.00002
|
|
NM_017780.4(CHD7):c.5467A>G (p.Met1823Val)
|
rs769931428
|
0.00002
|
|
NM_017780.4(CHD7):c.561G>A (p.Gln187=)
|
rs181083503
|
0.00002
|
|
NM_017780.4(CHD7):c.5859G>A (p.Ala1953=)
|
rs587783449
|
0.00002
|
|
NM_017780.4(CHD7):c.6087C>T (p.Pro2029=)
|
rs550461070
|
0.00002
|
|
NM_017780.4(CHD7):c.6104-9G>A
|
rs567669913
|
0.00002
|
|
NM_017780.4(CHD7):c.6167A>C (p.Tyr2056Ser)
|
rs1189776580
|
0.00002
|
|
NM_017780.4(CHD7):c.6192C>G (p.Ile2064Met)
|
rs1349507815
|
0.00002
|
|
NM_017780.4(CHD7):c.6199C>G (p.Gln2067Glu)
|
rs766862122
|
0.00002
|
|
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val)
|
rs369433978
|
0.00002
|
|
NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg)
|
rs747357928
|
0.00002
|
|
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr)
|
rs374408098
|
0.00002
|
|
NM_017780.4(CHD7):c.6680C>G (p.Thr2227Ser)
|
rs1416622951
|
0.00002
|
|
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)
|
rs554647169
|
0.00002
|
|
NM_017780.4(CHD7):c.7023T>C (p.Asp2341=)
|
rs572098274
|
0.00002
|
|
NM_017780.4(CHD7):c.7052C>T (p.Pro2351Leu)
|
rs373370399
|
0.00002
|
|
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met)
|
rs189926848
|
0.00002
|
|
NM_017780.4(CHD7):c.7146G>A (p.Thr2382=)
|
rs1450918582
|
0.00002
|
|
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr)
|
rs727503870
|
0.00002
|
|
NM_017780.4(CHD7):c.736G>C (p.Ala246Pro)
|
rs375325395
|
0.00002
|
|
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala)
|
rs372546969
|
0.00002
|
|
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu)
|
rs371930390
|
0.00002
|
|
NM_017780.4(CHD7):c.756G>A (p.Ser252=)
|
rs371000762
|
0.00002
|
|
NM_017780.4(CHD7):c.7678C>T (p.Pro2560Ser)
|
rs748036782
|
0.00002
|
|
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp)
|
rs775888715
|
0.00002
|
|
NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser)
|
rs764847747
|
0.00002
|
|
NM_017780.4(CHD7):c.7901A>G (p.Asn2634Ser)
|
rs1012221437
|
0.00002
|
|
NM_017780.4(CHD7):c.7971+7G>A
|
rs554518877
|
0.00002
|
|
NM_017780.4(CHD7):c.8188G>A (p.Ala2730Thr)
|
rs757707495
|
0.00002
|
|
NM_017780.4(CHD7):c.8214G>A (p.Thr2738=)
|
rs199570256
|
0.00002
|
|
NM_017780.4(CHD7):c.8367G>A (p.Ala2789=)
|
rs752708986
|
0.00002
|
|
NM_017780.4(CHD7):c.8507C>T (p.Pro2836Leu)
|
rs925177812
|
0.00002
|
|
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu)
|
rs147534616
|
0.00002
|
|
NM_017780.4(CHD7):c.8759G>C (p.Gly2920Ala)
|
rs769008751
|
0.00002
|
|
NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr)
|
rs1242867481
|
0.00002
|
|
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu)
|
rs201793562
|
0.00002
|
|
NM_017780.4(CHD7):c.8855C>G (p.Thr2952Ser)
|
rs748655442
|
0.00002
|
|
NM_181523.3(PIK3R1):c.1993G>A (p.Gly665Ser)
|
rs751595991
|
0.00002
|
|
NM_181523.3(PIK3R1):c.202G>C (p.Asp68His)
|
rs755043940
|
0.00002
|
|
NM_181523.3(PIK3R1):c.2168G>A (p.Arg723Lys)
|
rs762818071
|
0.00002
|
|
NM_181523.3(PIK3R1):c.405C>T (p.Leu135=)
|
rs758397455
|
0.00002
|
|
NM_181523.3(PIK3R1):c.526A>G (p.Met176Val)
|
rs200820769
|
0.00002
|
|
NM_181523.3(PIK3R1):c.610A>G (p.Ser204Gly)
|
rs1481771249
|
0.00002
|
|
NM_181523.3(PIK3R1):c.611G>A (p.Ser204Asn)
|
rs771919405
|
0.00002
|
|
NM_000052.7(ATP7A):c.1023G>C (p.Gly341=)
|
rs374656309
|
0.00001
|
|
NM_000052.7(ATP7A):c.1040T>C (p.Ile347Thr)
|
rs368982547
|
0.00001
|
|
NM_000052.7(ATP7A):c.1106A>G (p.Asn369Ser)
|
rs1557231866
|
0.00001
|
|
NM_000052.7(ATP7A):c.1141A>G (p.Ile381Val)
|
rs1349223430
|
0.00001
|
|
NM_000052.7(ATP7A):c.1152T>C (p.Asp384=)
|
rs147225045
|
0.00001
|
|
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=)
|
rs782744809
|
0.00001
|
|
NM_000052.7(ATP7A):c.121-12T>C
|
rs1557231556
|
0.00001
|
|
NM_000052.7(ATP7A):c.1222A>G (p.Ile408Val)
|
rs782815622
|
0.00001
|
|
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met)
|
rs373634671
|
0.00001
|
|
NM_000052.7(ATP7A):c.1247A>C (p.Asn416Thr)
|
rs1557231909
|
0.00001
|
|
NM_000052.7(ATP7A):c.1252A>T (p.Thr418Ser)
|
rs782505393
|
0.00001
|
|
NM_000052.7(ATP7A):c.1255G>T (p.Val419Phe)
|
rs782635238
|
0.00001
|
|
NM_000052.7(ATP7A):c.1259A>G (p.Glu420Gly)
|
rs782530774
|
0.00001
|
|
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly)
|
rs2077660217
|
0.00001
|
|
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met)
|
rs782018636
|
0.00001
|
|
NM_000052.7(ATP7A):c.1290G>A (p.Thr430=)
|
rs143036870
|
0.00001
|
|
NM_000052.7(ATP7A):c.1302A>C (p.Ala434=)
|
rs782148279
|
0.00001
|
|
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr)
|
rs377651753
|
0.00001
|
|
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)
|
rs1227094533
|
0.00001
|
|
NM_000052.7(ATP7A):c.1337-5A>G
|
rs371146030
|
0.00001
|
|
NM_000052.7(ATP7A):c.1341G>A (p.Thr447=)
|
rs782292643
|
0.00001
|
|
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu)
|
rs1557232786
|
0.00001
|
|
NM_000052.7(ATP7A):c.1384C>G (p.Pro462Ala)
|
rs781964005
|
0.00001
|
|
NM_000052.7(ATP7A):c.1399A>G (p.Thr467Ala)
|
rs782416233
|
0.00001
|
|
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr)
|
rs1557231562
|
0.00001
|
|
NM_000052.7(ATP7A):c.1448A>G (p.Glu483Gly)
|
rs781834607
|
0.00001
|
|
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val)
|
rs781874593
|
0.00001
|
|
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala)
|
rs1193696385
|
0.00001
|
|
NM_000052.7(ATP7A):c.1497C>T (p.Cys499=)
|
rs782495317
|
0.00001
|
|
NM_000052.7(ATP7A):c.1558C>T (p.Leu520Phe)
|
rs1331470313
|
0.00001
|
|
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)
|
rs368355216
|
0.00001
|
|
NM_000052.7(ATP7A):c.1583C>G (p.Ala528Gly)
|
rs1557233359
|
0.00001
|
|
NM_000052.7(ATP7A):c.1590A>G (p.Val530=)
|
rs1557233367
|
0.00001
|
|
NM_000052.7(ATP7A):c.1602T>C (p.Pro534=)
|
rs1056057247
|
0.00001
|
|
NM_000052.7(ATP7A):c.1630G>C (p.Glu544Gln)
|
rs782491733
|
0.00001
|
|
NM_000052.7(ATP7A):c.168A>G (p.Leu56=)
|
rs782612734
|
0.00001
|
|
NM_000052.7(ATP7A):c.1707+16T>C
|
rs1557233398
|
0.00001
|
|
NM_000052.7(ATP7A):c.1708-9C>G
|
rs1557234077
|
0.00001
|
|
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg)
|
rs1569549834
|
0.00001
|
|
NM_000052.7(ATP7A):c.1802C>A (p.Thr601Asn)
|
rs371777895
|
0.00001
|
|
NM_000052.7(ATP7A):c.1811C>T (p.Ala604Val)
|
rs375103934
|
0.00001
|
|
NM_000052.7(ATP7A):c.1825G>C (p.Asp609His)
|
rs782764596
|
0.00001
|
|
NM_000052.7(ATP7A):c.1829C>T (p.Pro610Leu)
|
rs781872960
|
0.00001
|
|
NM_000052.7(ATP7A):c.1834A>G (p.Ile612Val)
|
rs1318638094
|
0.00001
|
|
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly)
|
rs782528311
|
0.00001
|
|
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg)
|
rs782396059
|
0.00001
|
|
NM_000052.7(ATP7A):c.1878T>C (p.Gly626=)
|
rs782299586
|
0.00001
|
|
NM_000052.7(ATP7A):c.1902G>A (p.Lys634=)
|
rs782315947
|
0.00001
|
|
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)
|
rs1557234412
|
0.00001
|
|
NM_000052.7(ATP7A):c.1946+11T>C
|
rs1557234428
|
0.00001
|
|
NM_000052.7(ATP7A):c.1947-5A>G
|
rs1557234466
|
0.00001
|
|
NM_000052.7(ATP7A):c.1947-7A>G
|
rs2077824853
|
0.00001
|
|
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu)
|
rs879254156
|
0.00001
|
|
NM_000052.7(ATP7A):c.202G>A (p.Asp68Asn)
|
rs782629836
|
0.00001
|
|
NM_000052.7(ATP7A):c.2032T>C (p.Phe678Leu)
|
rs781792854
|
0.00001
|
|
NM_000052.7(ATP7A):c.2039C>T (p.Thr680Ile)
|
rs782455461
|
0.00001
|
|
NM_000052.7(ATP7A):c.204C>T (p.Asp68=)
|
rs1557231573
|
0.00001
|
|
NM_000052.7(ATP7A):c.2053C>G (p.Gln685Glu)
|
rs1557234510
|
0.00001
|
|
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys)
|
rs944415019
|
0.00001
|
|
NM_000052.7(ATP7A):c.2103G>T (p.Leu701=)
|
rs1318545869
|
0.00001
|
|
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)
|
rs2234936
|
0.00001
|
|
NM_000052.7(ATP7A):c.2142G>A (p.Leu714=)
|
rs782037158
|
0.00001
|
|
NM_000052.7(ATP7A):c.2149T>G (p.Phe717Val)
|
rs1557234537
|
0.00001
|
|
NM_000052.7(ATP7A):c.2161G>T (p.Val721Leu)
|
rs1557234543
|
0.00001
|
|
NM_000052.7(ATP7A):c.219T>C (p.Ala73=)
|
rs1557231581
|
0.00001
|
|
NM_000052.7(ATP7A):c.2209A>G (p.Lys737Glu)
|
rs782240491
|
0.00001
|
|
NM_000052.7(ATP7A):c.2212G>A (p.Ala738Thr)
|
rs782389012
|
0.00001
|
|
NM_000052.7(ATP7A):c.2226G>C (p.Lys742Asn)
|
rs782293297
|
0.00001
|
|
NM_000052.7(ATP7A):c.2253G>A (p.Val751=)
|
rs782375469
|
0.00001
|
|
NM_000052.7(ATP7A):c.2254C>G (p.Leu752Val)
|
rs1157086859
|
0.00001
|
|
NM_000052.7(ATP7A):c.2276C>T (p.Ala759Val)
|
rs1557234739
|
0.00001
|
|
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)
|
rs782006661
|
0.00001
|
|
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)
|
rs2077837721
|
0.00001
|
|
NM_000052.7(ATP7A):c.2313G>C (p.Glu771Asp)
|
rs1443260520
|
0.00001
|
|
NM_000052.7(ATP7A):c.2340C>T (p.Phe780=)
|
rs2077838145
|
0.00001
|
|
NM_000052.7(ATP7A):c.2364T>C (p.Phe788=)
|
rs1557234754
|
0.00001
|
|
NM_000052.7(ATP7A):c.2375C>T (p.Ala792Val)
|
rs782770209
|
0.00001
|
|
NM_000052.7(ATP7A):c.2437A>G (p.Ile813Val)
|
rs1557234931
|
0.00001
|
|
NM_000052.7(ATP7A):c.2442A>G (p.Ser814=)
|
rs781953495
|
0.00001
|
|
NM_000052.7(ATP7A):c.2490C>T (p.Ile830=)
|
rs368261204
|
0.00001
|
|
NM_000052.7(ATP7A):c.2499-9T>C
|
rs1557235070
|
0.00001
|
|
NM_000052.7(ATP7A):c.2505A>G (p.Glu835=)
|
rs1420350554
|
0.00001
|
|
NM_000052.7(ATP7A):c.2556A>T (p.Pro852=)
|
rs781950120
|
0.00001
|
|
NM_000052.7(ATP7A):c.255T>C (p.Thr85=)
|
rs1557231589
|
0.00001
|
|
NM_000052.7(ATP7A):c.2565A>G (p.Lys855=)
|
rs1557235088
|
0.00001
|
|
NM_000052.7(ATP7A):c.2573T>G (p.Val858Gly)
|
rs782094714
|
0.00001
|
|
NM_000052.7(ATP7A):c.2581C>T (p.Arg861Cys)
|
rs781892236
|
0.00001
|
|
NM_000052.7(ATP7A):c.2595A>G (p.Gly865=)
|
rs1557235097
|
0.00001
|
|
NM_000052.7(ATP7A):c.2627-17C>T
|
rs782200911
|
0.00001
|
|
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg)
|
rs1324162252
|
0.00001
|
|
NM_000052.7(ATP7A):c.2691C>T (p.Asn897=)
|
rs781928048
|
0.00001
|
|
NM_000052.7(ATP7A):c.2697A>G (p.Ser899=)
|
rs1557235606
|
0.00001
|
|
NM_000052.7(ATP7A):c.2712A>C (p.Ala904=)
|
rs1396353749
|
0.00001
|
|
NM_000052.7(ATP7A):c.2774C>T (p.Thr925Ile)
|
rs369335432
|
0.00001
|
|
NM_000052.7(ATP7A):c.2778A>G (p.Ser926=)
|
rs1557235619
|
0.00001
|
|
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg)
|
rs1557235625
|
0.00001
|
|
NM_000052.7(ATP7A):c.2797T>C (p.Phe933Leu)
|
rs782225818
|
0.00001
|
|
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr)
|
rs782807828
|
0.00001
|
|
NM_000052.7(ATP7A):c.2865A>G (p.Val955=)
|
rs1557235728
|
0.00001
|
|
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys)
|
rs1557235740
|
0.00001
|
|
NM_000052.7(ATP7A):c.2917-7T>C
|
rs376898023
|
0.00001
|
|
NM_000052.7(ATP7A):c.2923A>G (p.Asn975Asp)
|
rs1557236695
|
0.00001
|
|
NM_000052.7(ATP7A):c.2924A>G (p.Asn975Ser)
|
rs1557236698
|
0.00001
|
|
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala)
|
rs1023683992
|
0.00001
|
|
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln)
|
rs781995242
|
0.00001
|
|
NM_000052.7(ATP7A):c.3028A>G (p.Thr1010Ala)
|
rs782480109
|
0.00001
|
|
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val)
|
rs1341604631
|
0.00001
|
|
NM_000052.7(ATP7A):c.3112G>A (p.Val1038Ile)
|
rs181435872
|
0.00001
|
|
NM_000052.7(ATP7A):c.3168G>T (p.Val1056=)
|
rs371089220
|
0.00001
|
|
NM_000052.7(ATP7A):c.3174A>G (p.Gln1058=)
|
rs1057518370
|
0.00001
|
|
NM_000052.7(ATP7A):c.318A>G (p.Thr106=)
|
rs781851530
|
0.00001
|
|
NM_000052.7(ATP7A):c.3198C>T (p.Asn1066=)
|
rs2077983590
|
0.00001
|
|
NM_000052.7(ATP7A):c.3240T>C (p.Ala1080=)
|
rs1557237065
|
0.00001
|
|
NM_000052.7(ATP7A):c.3294+10T>A
|
rs2077984363
|
0.00001
|
|
NM_000052.7(ATP7A):c.3304A>T (p.Thr1102Ser)
|
rs782066060
|
0.00001
|
|
NM_000052.7(ATP7A):c.330C>A (p.Thr110=)
|
rs1557231608
|
0.00001
|
|
NM_000052.7(ATP7A):c.3396G>T (p.Lys1132Asn)
|
rs782548907
|
0.00001
|
|
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly)
|
rs782154314
|
0.00001
|
|
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg)
|
rs782486797
|
0.00001
|
|
NM_000052.7(ATP7A):c.3455C>T (p.Ala1152Val)
|
rs371409820
|
0.00001
|
|
NM_000052.7(ATP7A):c.3457A>G (p.Ser1153Gly)
|
rs1363235909
|
0.00001
|
|
NM_000052.7(ATP7A):c.3463G>C (p.Glu1155Gln)
|
rs2077996609
|
0.00001
|
|
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp)
|
rs781907456
|
0.00001
|
|
NM_000052.7(ATP7A):c.3554G>A (p.Arg1185Gln)
|
rs782435305
|
0.00001
|
|
NM_000052.7(ATP7A):c.3591C>T (p.Asn1197=)
|
rs1391918882
|
0.00001
|
|
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)
|
rs782026169
|
0.00001
|
|
NM_000052.7(ATP7A):c.3606C>T (p.Phe1202=)
|
rs782173299
|
0.00001
|
|
NM_000052.7(ATP7A):c.3658+13A>G
|
rs797045381
|
0.00001
|
|
NM_000052.7(ATP7A):c.3659-5A>G
|
rs1557238245
|
0.00001
|
|
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)
|
rs782664232
|
0.00001
|
|
NM_000052.7(ATP7A):c.3696G>A (p.Val1232=)
|
rs1557238252
|
0.00001
|
|
NM_000052.7(ATP7A):c.3701C>G (p.Pro1234Arg)
|
rs1557238254
|
0.00001
|
|
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile)
|
rs962646396
|
0.00001
|
|
NM_000052.7(ATP7A):c.3802-9A>G
|
rs1557238565
|
0.00001
|
|
NM_000052.7(ATP7A):c.3885G>A (p.Arg1295=)
|
rs895520660
|
0.00001
|
|
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile)
|
rs782499160
|
0.00001
|
|
NM_000052.7(ATP7A):c.3895G>T (p.Val1299Leu)
|
rs782628250
|
0.00001
|
|
NM_000052.7(ATP7A):c.3903T>C (p.Asp1301=)
|
rs782582761
|
0.00001
|
|
NM_000052.7(ATP7A):c.3915C>T (p.Asp1305=)
|
rs781872987
|
0.00001
|
|
NM_000052.7(ATP7A):c.3942G>A (p.Val1314=)
|
rs1569550333
|
0.00001
|
|
NM_000052.7(ATP7A):c.3957C>T (p.Gly1319=)
|
rs1271447006
|
0.00001
|
|
NM_000052.7(ATP7A):c.4005+10A>G
|
rs782188201
|
0.00001
|
|
NM_000052.7(ATP7A):c.4006-11T>A
|
rs1325784914
|
0.00001
|
|
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)
|
rs370736173
|
0.00001
|
|
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln)
|
rs782260602
|
0.00001
|
|
NM_000052.7(ATP7A):c.4132A>G (p.Met1378Val)
|
rs782161783
|
0.00001
|
|
NM_000052.7(ATP7A):c.4152G>A (p.Leu1384=)
|
rs781939808
|
0.00001
|
|
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu)
|
rs1557231629
|
0.00001
|
|
NM_000052.7(ATP7A):c.4180G>T (p.Ala1394Ser)
|
rs189818149
|
0.00001
|
|
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=)
|
rs782505602
|
0.00001
|
|
NM_000052.7(ATP7A):c.4212T>C (p.Ser1404=)
|
rs2078077936
|
0.00001
|
|
NM_000052.7(ATP7A):c.4227-12del
|
rs1557239080
|
0.00001
|
|
NM_000052.7(ATP7A):c.4254T>C (p.Tyr1418=)
|
rs990337633
|
0.00001
|
|
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln)
|
rs368091927
|
0.00001
|
|
NM_000052.7(ATP7A):c.4293T>C (p.Pro1431=)
|
rs1569550372
|
0.00001
|
|
NM_000052.7(ATP7A):c.4310A>G (p.His1437Arg)
|
rs1557239111
|
0.00001
|
|
NM_000052.7(ATP7A):c.4311T>C (p.His1437=)
|
rs782541211
|
0.00001
|
|
NM_000052.7(ATP7A):c.4355T>G (p.Leu1452Trp)
|
rs1557239117
|
0.00001
|
|
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)
|
rs1457236338
|
0.00001
|
|
NM_000052.7(ATP7A):c.4375T>C (p.Tyr1459His)
|
rs782272603
|
0.00001
|
|
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys)
|
rs782062633
|
0.00001
|
|
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His)
|
rs1204475767
|
0.00001
|
|
NM_000052.7(ATP7A):c.4426A>T (p.Ser1476Cys)
|
rs1557239144
|
0.00001
|
|
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)
|
rs782799150
|
0.00001
|
|
NM_000052.7(ATP7A):c.4449C>T (p.Asp1483=)
|
rs1557239148
|
0.00001
|
|
NM_000052.7(ATP7A):c.4497A>C (p.Ala1499=)
|
rs782053901
|
0.00001
|
|
NM_000052.7(ATP7A):c.470C>T (p.Ser157Leu)
|
rs782716555
|
0.00001
|
|
NM_000052.7(ATP7A):c.488A>G (p.His163Arg)
|
rs1164298315
|
0.00001
|
|
NM_000052.7(ATP7A):c.498T>C (p.Ala166=)
|
rs782701351
|
0.00001
|
|
NM_000052.7(ATP7A):c.506G>A (p.Gly169Asp)
|
rs782485590
|
0.00001
|
|
NM_000052.7(ATP7A):c.513C>T (p.Val171=)
|
rs782643553
|
0.00001
|
|
NM_000052.7(ATP7A):c.514G>A (p.Val172Met)
|
rs782248978
|
0.00001
|
|
NM_000052.7(ATP7A):c.531G>A (p.Val177=)
|
rs1557231650
|
0.00001
|
|
NM_000052.7(ATP7A):c.532G>A (p.Glu178Lys)
|
rs782675275
|
0.00001
|
|
NM_000052.7(ATP7A):c.548A>G (p.His183Arg)
|
rs1186296000
|
0.00001
|
|
NM_000052.7(ATP7A):c.556A>C (p.Thr186Pro)
|
rs1557231656
|
0.00001
|
|
NM_000052.7(ATP7A):c.579T>A (p.Ile193=)
|
rs2077652795
|
0.00001
|
|
NM_000052.7(ATP7A):c.605T>G (p.Ile202Ser)
|
rs1557231670
|
0.00001
|
|
NM_000052.7(ATP7A):c.611-4C>T
|
rs1287080060
|
0.00001
|
|
NM_000052.7(ATP7A):c.635C>T (p.Thr212Ile)
|
rs1557231734
|
0.00001
|
|
NM_000052.7(ATP7A):c.760C>T (p.Arg254Cys)
|
rs374855698
|
0.00001
|
|
NM_000052.7(ATP7A):c.807G>A (p.Arg269=)
|
rs868946047
|
0.00001
|
|
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)
|
rs782146244
|
0.00001
|
|
NM_000052.7(ATP7A):c.843C>A (p.Phe281Leu)
|
rs1039952708
|
0.00001
|
|
NM_000052.7(ATP7A):c.891T>A (p.Ser297Arg)
|
rs782449900
|
0.00001
|
|
NM_000052.7(ATP7A):c.933T>C (p.Ser311=)
|
rs782638418
|
0.00001
|
|
NM_000052.7(ATP7A):c.963T>C (p.Tyr321=)
|
rs1557231829
|
0.00001
|
|
NM_000165.5(GJA1):c.1015G>A (p.Asp339Asn)
|
rs772121642
|
0.00001
|
|
NM_000165.5(GJA1):c.1033A>G (p.Lys345Glu)
|
rs764494850
|
0.00001
|
|
NM_000165.5(GJA1):c.1108C>T (p.Arg370Cys)
|
rs994770541
|
0.00001
|
|
NM_000165.5(GJA1):c.1147T>C (p.Ter383Gln)
|
rs751144223
|
0.00001
|
|
NM_000165.5(GJA1):c.150T>A (p.Ser50=)
|
rs1451772901
|
0.00001
|
|
NM_000165.5(GJA1):c.15C>T (p.Ser5=)
|
rs758641783
|
0.00001
|
|
NM_000165.5(GJA1):c.18C>T (p.Ala6=)
|
rs200520137
|
0.00001
|
|
NM_000165.5(GJA1):c.192C>T (p.Val64=)
|
rs1390540506
|
0.00001
|
|
NM_000165.5(GJA1):c.353C>T (p.Thr118Ile)
|
rs1773903009
|
0.00001
|
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
|
NM_000165.5(GJA1):c.66G>A (p.Gly22=)
|
rs754592117
|
0.00001
|
|
NM_000165.5(GJA1):c.690T>C (p.Tyr230=)
|
rs775689247
|
0.00001
|
|
NM_000165.5(GJA1):c.715C>A (p.Arg239=)
|
rs1248411159
|
0.00001
|
|
NM_000165.5(GJA1):c.743A>G (p.His248Arg)
|
rs747365823
|
0.00001
|
|
NM_000165.5(GJA1):c.748A>G (p.Thr250Ala)
|
rs769333167
|
0.00001
|
|
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro)
|
rs376074787
|
0.00001
|
|
NM_000165.5(GJA1):c.860A>G (p.Lys287Arg)
|
rs555927773
|
0.00001
|
|
NM_000165.5(GJA1):c.896G>A (p.Arg299His)
|
rs778457698
|
0.00001
|
|
NM_000165.5(GJA1):c.905A>G (p.Asn302Ser)
|
rs746806096
|
0.00001
|
|
NM_000165.5(GJA1):c.962G>T (p.Gly321Val)
|
rs1294212392
|
0.00001
|
|
NM_000165.5(GJA1):c.968C>T (p.Ala323Val)
|
rs756523929
|
0.00001
|
|
NM_000168.6(GLI3):c.1024A>G (p.Ile342Val)
|
rs771132000
|
0.00001
|
|
NM_000168.6(GLI3):c.1028+1G>A
|
rs1375768446
|
0.00001
|
|
NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu)
|
rs370794111
|
0.00001
|
|
NM_000168.6(GLI3):c.1184G>A (p.Gly395Glu)
|
rs1345463284
|
0.00001
|
|
NM_000168.6(GLI3):c.1287G>A (p.Pro429=)
|
rs760816574
|
0.00001
|
|
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln)
|
rs745809543
|
0.00001
|
|
NM_000168.6(GLI3):c.1380T>C (p.Leu460=)
|
rs748089575
|
0.00001
|
|
NM_000168.6(GLI3):c.1433A>G (p.Tyr478Cys)
|
rs1312485546
|
0.00001
|
|
NM_000168.6(GLI3):c.1464G>A (p.Ala488=)
|
rs777294193
|
0.00001
|
|
NM_000168.6(GLI3):c.1779C>T (p.Arg593=)
|
rs371786696
|
0.00001
|
|
NM_000168.6(GLI3):c.1845T>C (p.Thr615=)
|
rs373687877
|
0.00001
|
|
NM_000168.6(GLI3):c.2004G>A (p.Pro668=)
|
rs867192725
|
0.00001
|
|
NM_000168.6(GLI3):c.2233G>A (p.Asp745Asn)
|
rs142249104
|
0.00001
|
|
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)
|
rs777937822
|
0.00001
|
|
NM_000168.6(GLI3):c.2431+8C>A
|
rs368025121
|
0.00001
|
|
NM_000168.6(GLI3):c.2432-16C>T
|
rs761302001
|
0.00001
|
|
NM_000168.6(GLI3):c.246G>A (p.Arg82=)
|
rs890167751
|
0.00001
|
|
NM_000168.6(GLI3):c.2520G>A (p.Met840Ile)
|
rs1283743237
|
0.00001
|
|
NM_000168.6(GLI3):c.252A>G (p.Ser84=)
|
rs1051536881
|
0.00001
|
|
NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys)
|
rs755227076
|
0.00001
|
|
NM_000168.6(GLI3):c.2685C>T (p.Tyr895=)
|
rs772948115
|
0.00001
|
|
NM_000168.6(GLI3):c.2703C>T (p.Asp901=)
|
rs1448746421
|
0.00001
|
|
NM_000168.6(GLI3):c.2729G>A (p.Ser910Asn)
|
rs750790986
|
0.00001
|
|
NM_000168.6(GLI3):c.2856C>T (p.Ser952=)
|
rs1214730213
|
0.00001
|
|
NM_000168.6(GLI3):c.2975T>C (p.Leu992Pro)
|
rs1370106320
|
0.00001
|
|
NM_000168.6(GLI3):c.2981C>G (p.Pro994Arg)
|
rs772285708
|
0.00001
|
|
NM_000168.6(GLI3):c.3054G>A (p.Leu1018=)
|
rs1022587271
|
0.00001
|
|
NM_000168.6(GLI3):c.3122A>G (p.Lys1041Arg)
|
rs747875277
|
0.00001
|
|
NM_000168.6(GLI3):c.3133G>A (p.Val1045Met)
|
rs1166711228
|
0.00001
|
|
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=)
|
rs370714837
|
0.00001
|
|
NM_000168.6(GLI3):c.3498C>T (p.Ser1166=)
|
rs1232245839
|
0.00001
|
|
NM_000168.6(GLI3):c.3549C>G (p.Pro1183=)
|
rs746224726
|
0.00001
|
|
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu)
|
rs541487979
|
0.00001
|
|
NM_000168.6(GLI3):c.3756G>A (p.Pro1252=)
|
rs758155716
|
0.00001
|
|
NM_000168.6(GLI3):c.3852C>T (p.Thr1284=)
|
rs757478389
|
0.00001
|
|
NM_000168.6(GLI3):c.3899C>T (p.Ala1300Val)
|
rs751790458
|
0.00001
|
|
NM_000168.6(GLI3):c.3900G>A (p.Ala1300=)
|
rs559754489
|
0.00001
|
|
NM_000168.6(GLI3):c.4148A>G (p.Tyr1383Cys)
|
rs894551472
|
0.00001
|
|
NM_000168.6(GLI3):c.4187C>A (p.Ala1396Asp)
|
rs373003816
|
0.00001
|
|
NM_000168.6(GLI3):c.4245C>T (p.Thr1415=)
|
rs201470312
|
0.00001
|
|
NM_000168.6(GLI3):c.4369G>A (p.Ala1457Thr)
|
rs1248816541
|
0.00001
|
|
NM_000168.6(GLI3):c.445G>A (p.Asp149Asn)
|
rs960718476
|
0.00001
|
|
NM_000168.6(GLI3):c.4556T>C (p.Met1519Thr)
|
rs745490483
|
0.00001
|
|
NM_000168.6(GLI3):c.4610G>A (p.Arg1537His)
|
rs746798261
|
0.00001
|
|
NM_000168.6(GLI3):c.4636C>T (p.Pro1546Ser)
|
rs1173657852
|
0.00001
|
|
NM_000168.6(GLI3):c.506C>T (p.Pro169Leu)
|
rs1419861206
|
0.00001
|
|
NM_000168.6(GLI3):c.558C>T (p.Ser186=)
|
rs769275169
|
0.00001
|
|
NM_000168.6(GLI3):c.612C>G (p.Ile204Met)
|
rs760701023
|
0.00001
|
|
NM_000168.6(GLI3):c.613C>T (p.Arg205Cys)
|
rs767832980
|
0.00001
|
|
NM_000168.6(GLI3):c.648C>T (p.Ile216=)
|
rs886043938
|
0.00001
|
|
NM_000168.6(GLI3):c.681G>A (p.Ala227=)
|
rs752998397
|
0.00001
|
|
NM_000168.6(GLI3):c.780C>T (p.Thr260=)
|
rs370612767
|
0.00001
|
|
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr)
|
rs139274834
|
0.00001
|
|
NM_000168.6(GLI3):c.826+9C>T
|
rs776625548
|
0.00001
|
|
NM_000168.6(GLI3):c.827-10T>C
|
rs371456706
|
0.00001
|
|
NM_000168.6(GLI3):c.847A>T (p.Arg283Trp)
|
rs746870989
|
0.00001
|
|
NM_000168.6(GLI3):c.901G>A (p.Asp301Asn)
|
rs752246768
|
0.00001
|
|
NM_000168.6(GLI3):c.972C>T (p.Ser324=)
|
rs1784101322
|
0.00001
|
|
NM_000168.6(GLI3):c.973C>T (p.Arg325Cys)
|
rs942730954
|
0.00001
|
|
NM_000168.6(GLI3):c.99C>T (p.Ala33=)
|
rs201109218
|
0.00001
|
|
NM_000346.4(SOX9):c.1109C>T (p.Pro370Leu)
|
rs1908199604
|
0.00001
|
|
NM_000346.4(SOX9):c.1137G>A (p.Ala379=)
|
rs774701551
|
0.00001
|
|
NM_000346.4(SOX9):c.1178A>G (p.Gln393Arg)
|
rs1016657347
|
0.00001
|
|
NM_000346.4(SOX9):c.1223G>T (p.Ser408Ile)
|
rs1025099692
|
0.00001
|
|
NM_000346.4(SOX9):c.1281C>T (p.His427=)
|
rs1233957619
|
0.00001
|
|
NM_000346.4(SOX9):c.1490A>G (p.His497Arg)
|
rs759413061
|
0.00001
|
|
NM_000346.4(SOX9):c.1504G>A (p.Val502Ile)
|
rs774375417
|
0.00001
|
|
NM_000346.4(SOX9):c.15C>T (p.Asp5=)
|
rs768210143
|
0.00001
|
|
NM_000346.4(SOX9):c.173C>G (p.Pro58Arg)
|
rs770917232
|
0.00001
|
|
NM_000346.4(SOX9):c.18C>T (p.Pro6=)
|
rs780889240
|
0.00001
|
|
NM_000346.4(SOX9):c.432-20C>A
|
rs753494101
|
0.00001
|
|
NM_000346.4(SOX9):c.447C>T (p.Ser149=)
|
rs769838386
|
0.00001
|
|
NM_000346.4(SOX9):c.59G>C (p.Gly20Ala)
|
rs1276160255
|
0.00001
|
|
NM_000346.4(SOX9):c.657C>T (p.Ser219=)
|
rs777250801
|
0.00001
|
|
NM_000346.4(SOX9):c.685+7dup
|
rs772013619
|
0.00001
|
|
NM_000346.4(SOX9):c.737A>C (p.Gln246Pro)
|
rs773882079
|
0.00001
|
|
NM_000346.4(SOX9):c.787G>A (p.Gly263Ser)
|
rs752926968
|
0.00001
|
|
NM_000346.4(SOX9):c.804C>A (p.Ile268=)
|
rs1474624879
|
0.00001
|
|
NM_000346.4(SOX9):c.916G>T (p.Val306Leu)
|
rs779386878
|
0.00001
|
|
NM_000346.4(SOX9):c.984G>A (p.Pro328=)
|
rs762132069
|
0.00001
|
|
NM_001271938.2(MEGF8):c.123A>G (p.Pro41=)
|
rs964840099
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1255C>T (p.Arg419Ter)
|
rs1222471099
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1791T>C (p.Cys597=)
|
rs777831498
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1819C>T (p.Arg607Cys)
|
rs747026334
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1942C>T (p.Arg648Cys)
|
rs761382753
|
0.00001
|
|
NM_001271938.2(MEGF8):c.2390G>A (p.Arg797Gln)
|
rs368683081
|
0.00001
|
|
NM_001271938.2(MEGF8):c.2477G>A (p.Arg826Gln)
|
rs775071124
|
0.00001
|
|
NM_001271938.2(MEGF8):c.27G>C (p.Met9Ile)
|
rs1029623509
|
0.00001
|
|
NM_001271938.2(MEGF8):c.284G>A (p.Arg95Gln)
|
rs758585947
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3004C>T (p.Arg1002Trp)
|
rs1374279391
|
0.00001
|
|
NM_001271938.2(MEGF8):c.334G>A (p.Glu112Lys)
|
rs763111888
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3378G>A (p.Val1126=)
|
rs780556649
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3472C>A (p.Arg1158Ser)
|
rs977777127
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3520C>T (p.Arg1174Trp)
|
rs892173452
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3603C>T (p.Asn1201=)
|
rs540512909
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3712G>A (p.Glu1238Lys)
|
rs377750684
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3804C>T (p.Leu1268=)
|
rs780442723
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp)
|
rs1229026252
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=)
|
rs369967292
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4517G>A (p.Arg1506His)
|
rs749669318
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4640G>A (p.Arg1547Gln)
|
rs372798483
|
0.00001
|
|
NM_001271938.2(MEGF8):c.4732C>T (p.Arg1578Cys)
|
rs774288940
|
0.00001
|
|
NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly)
|
rs764246520
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5422G>A (p.Glu1808Lys)
|
rs771890594
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5434G>A (p.Asp1812Asn)
|
rs747286989
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5583A>C (p.Gly1861=)
|
rs746270596
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5765C>T (p.Pro1922Leu)
|
rs766493787
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5853C>A (p.Thr1951=)
|
rs754567747
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6059-16C>T
|
rs760323076
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala)
|
rs779853780
|
0.00001
|
|
NM_001271938.2(MEGF8):c.610C>T (p.Leu204=)
|
rs1351465017
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6261C>T (p.Ser2087=)
|
rs2039558834
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser)
|
rs772768716
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6482-9C>T
|
rs776227273
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6693A>C (p.Ser2231=)
|
rs746097325
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6739C>T (p.Arg2247Cys)
|
rs1438199181
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6936C>A (p.Ile2312=)
|
rs764031754
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=)
|
rs754666704
|
0.00001
|
|
NM_001271938.2(MEGF8):c.7155C>T (p.His2385=)
|
rs775919574
|
0.00001
|
|
NM_001271938.2(MEGF8):c.7368G>A (p.Thr2456=)
|
rs779163527
|
0.00001
|
|
NM_001271938.2(MEGF8):c.754A>G (p.Asn252Asp)
|
rs769584545
|
0.00001
|
|
NM_001271938.2(MEGF8):c.7592C>T (p.Ala2531Val)
|
rs773102301
|
0.00001
|
|
NM_001271938.2(MEGF8):c.7670G>A (p.Gly2557Glu)
|
rs749183655
|
0.00001
|
|
NM_001271938.2(MEGF8):c.772G>A (p.Val258Ile)
|
rs375853163
|
0.00001
|
|
NM_001271938.2(MEGF8):c.8097G>A (p.Lys2699=)
|
rs1461151357
|
0.00001
|
|
NM_001271938.2(MEGF8):c.8223T>G (p.Gly2741=)
|
rs750507989
|
0.00001
|
|
NM_001271938.2(MEGF8):c.8449G>A (p.Gly2817Ser)
|
rs779537526
|
0.00001
|
|
NM_001271938.2(MEGF8):c.8486C>T (p.Ala2829Val)
|
rs975858414
|
0.00001
|
|
NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser)
|
rs753588973
|
0.00001
|
|
NM_001271938.2(MEGF8):c.889G>A (p.Glu297Lys)
|
rs1298003744
|
0.00001
|
|
NM_001271938.2(MEGF8):c.899A>G (p.Asp300Gly)
|
rs535520607
|
0.00001
|
|
NM_001271938.2(MEGF8):c.948C>A (p.Gly316=)
|
rs971549656
|
0.00001
|
|
NM_001365902.3(NFIX):c.186C>G (p.Gly62=)
|
rs1057523001
|
0.00001
|
|
NM_001365902.3(NFIX):c.309C>T (p.Cys103=)
|
rs376885081
|
0.00001
|
|
NM_001365902.3(NFIX):c.560-6C>T
|
rs1008207585
|
0.00001
|
|
NM_001365902.3(NFIX):c.600G>A (p.Ala200=)
|
rs367591626
|
0.00001
|
|
NM_001365902.3(NFIX):c.604A>G (p.Ile202Val)
|
rs772764812
|
0.00001
|
|
NM_001365902.3(NFIX):c.818+5G>A
|
rs2016924041
|
0.00001
|
|
NM_001379200.1(TBX1):c.1003G>T (p.Ala335Ser)
|
rs892172437
|
0.00001
|
|
NM_001379200.1(TBX1):c.1008C>G (p.Ser336=)
|
rs1489288021
|
0.00001
|
|
NM_001379200.1(TBX1):c.1010C>T (p.Pro337Leu)
|
rs1300317275
|
0.00001
|
|
NM_001379200.1(TBX1):c.1025G>A (p.Gly342Asp)
|
rs1191464098
|
0.00001
|
|
NM_001379200.1(TBX1):c.1026C>A (p.Gly342=)
|
rs1360989561
|
0.00001
|
|
NM_001379200.1(TBX1):c.1037-10C>T
|
rs1187093140
|
0.00001
|
|
NM_001379200.1(TBX1):c.1037-18C>T
|
rs1464749962
|
0.00001
|
|
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr)
|
rs1407996016
|
0.00001
|
|
NM_001379200.1(TBX1):c.1103C>A (p.Ala368Glu)
|
rs1157536437
|
0.00001
|
|
NM_001379200.1(TBX1):c.1188C>T (p.Gly396=)
|
rs1046003511
|
0.00001
|
|
NM_001379200.1(TBX1):c.1195G>A (p.Gly399Arg)
|
rs1196576937
|
0.00001
|
|
NM_001379200.1(TBX1):c.1196G>C (p.Gly399Ala)
|
rs1274082696
|
0.00001
|
|
NM_001379200.1(TBX1):c.1199G>C (p.Gly400Ala)
|
rs1238160485
|
0.00001
|
|
NM_001379200.1(TBX1):c.119C>T (p.Ala40Val)
|
rs745369694
|
0.00001
|
|
NM_001379200.1(TBX1):c.1221C>T (p.Pro407=)
|
rs1305509653
|
0.00001
|
|
NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser)
|
rs757648761
|
0.00001
|
|
NM_001379200.1(TBX1):c.1245C>T (p.Gly415=)
|
rs780344405
|
0.00001
|
|
NM_001379200.1(TBX1):c.1248A>G (p.Ala416=)
|
rs755047093
|
0.00001
|
|
NM_001379200.1(TBX1):c.1251G>A (p.Ser417=)
|
rs770781746
|
0.00001
|
|
NM_001379200.1(TBX1):c.1286C>T (p.Ala429Val)
|
rs754328637
|
0.00001
|
|
NM_001379200.1(TBX1):c.1295A>G (p.Tyr432Cys)
|
rs1163307521
|
0.00001
|
|
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn)
|
rs758517884
|
0.00001
|
|
NM_001379200.1(TBX1):c.1304A>G (p.Tyr435Cys)
|
rs1386894564
|
0.00001
|
|
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=)
|
rs574947516
|
0.00001
|
|
NM_001379200.1(TBX1):c.1323G>A (p.Arg441=)
|
rs1228904807
|
0.00001
|
|
NM_001379200.1(TBX1):c.1329G>A (p.Ala443=)
|
rs772860144
|
0.00001
|
|
NM_001379200.1(TBX1):c.1371G>A (p.Pro457=)
|
rs768572721
|
0.00001
|
|
NM_001379200.1(TBX1):c.1377G>C (p.Ala459=)
|
rs771540171
|
0.00001
|
|
NM_001379200.1(TBX1):c.137C>T (p.Pro46Leu)
|
rs1169037254
|
0.00001
|
|
NM_001379200.1(TBX1):c.1392C>T (p.His464=)
|
rs777103863
|
0.00001
|
|
NM_001379200.1(TBX1):c.1425C>T (p.Ala475=)
|
rs754705790
|
0.00001
|
|
NM_001379200.1(TBX1):c.1437C>T (p.Ala479=)
|
rs1415301935
|
0.00001
|
|
NM_001379200.1(TBX1):c.1446C>G (p.Ala482=)
|
rs770702512
|
0.00001
|
|
NM_001379200.1(TBX1):c.1446C>T (p.Ala482=)
|
rs770702512
|
0.00001
|
|
NM_001379200.1(TBX1):c.1469C>T (p.Ser490Leu)
|
rs770129913
|
0.00001
|
|
NM_001379200.1(TBX1):c.1472C>T (p.Ala491Val)
|
rs373987708
|
0.00001
|
|
NM_001379200.1(TBX1):c.1500C>G (p.Asp500Glu)
|
rs777213879
|
0.00001
|
|
NM_001379200.1(TBX1):c.158C>T (p.Pro53Leu)
|
rs1403071771
|
0.00001
|
|
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu)
|
rs1936641756
|
0.00001
|
|
NM_001379200.1(TBX1):c.226C>A (p.Pro76Thr)
|
rs1936643083
|
0.00001
|
|
NM_001379200.1(TBX1):c.279C>T (p.Ala93=)
|
rs1191392752
|
0.00001
|
|
NM_001379200.1(TBX1):c.303C>G (p.Ser101Arg)
|
rs774556411
|
0.00001
|
|
NM_001379200.1(TBX1):c.318C>G (p.Ala106=)
|
rs767905417
|
0.00001
|
|
NM_001379200.1(TBX1):c.407G>A (p.Gly136Asp)
|
rs761127806
|
0.00001
|
|
NM_001379200.1(TBX1):c.437+10C>T
|
rs765377233
|
0.00001
|
|
NM_001379200.1(TBX1):c.438-7C>A
|
rs199903273
|
0.00001
|
|
NM_001379200.1(TBX1):c.480T>A (p.Asp160Glu)
|
rs778041960
|
0.00001
|
|
NM_001379200.1(TBX1):c.523G>A (p.Asp175Asn)
|
rs371125236
|
0.00001
|
|
NM_001379200.1(TBX1):c.525C>T (p.Asp175=)
|
rs538317719
|
0.00001
|
|
NM_001379200.1(TBX1):c.549C>T (p.Phe183=)
|
rs1468073803
|
0.00001
|
|
NM_001379200.1(TBX1):c.588T>C (p.Pro196=)
|
rs1936758322
|
0.00001
|
|
NM_001379200.1(TBX1):c.632A>G (p.Lys211Arg)
|
rs755518264
|
0.00001
|
|
NM_001379200.1(TBX1):c.636C>T (p.Gly212=)
|
rs779173153
|
0.00001
|
|
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr)
|
rs748232668
|
0.00001
|
|
NM_001379200.1(TBX1):c.658G>A (p.Val220Met)
|
rs749275495
|
0.00001
|
|
NM_001379200.1(TBX1):c.663C>T (p.Ser221=)
|
rs1438172581
|
0.00001
|
|
NM_001379200.1(TBX1):c.699C>T (p.Asp233=)
|
rs367657296
|
0.00001
|
|
NM_001379200.1(TBX1):c.69G>C (p.Thr23=)
|
rs1482857023
|
0.00001
|
|
NM_001379200.1(TBX1):c.700G>A (p.Asp234Asn)
|
rs765827737
|
0.00001
|
|
NM_001379200.1(TBX1):c.740A>G (p.Gln247Arg)
|
rs373539086
|
0.00001
|
|
NM_001379200.1(TBX1):c.768C>T (p.Asp256=)
|
rs1266161483
|
0.00001
|
|
NM_001379200.1(TBX1):c.780T>C (p.Asp260=)
|
rs1936784892
|
0.00001
|
|
NM_001379200.1(TBX1):c.822C>T (p.Phe274=)
|
rs763559631
|
0.00001
|
|
NM_001379200.1(TBX1):c.831A>T (p.Thr277=)
|
rs1182771166
|
0.00001
|
|
NM_001379200.1(TBX1):c.868-11C>T
|
rs1936811503
|
0.00001
|
|
NM_001379200.1(TBX1):c.868-19C>T
|
rs1201011175
|
0.00001
|
|
NM_001379200.1(TBX1):c.935+13C>T
|
rs779209396
|
0.00001
|
|
NM_001379200.1(TBX1):c.936-11C>A
|
rs917326981
|
0.00001
|
|
NM_001379200.1(TBX1):c.956G>C (p.Gly319Ala)
|
rs747565599
|
0.00001
|
|
NM_001379200.1(TBX1):c.986G>C (p.Arg329Pro)
|
rs1271930172
|
0.00001
|
|
NM_003106.4(SOX2):c.254C>T (p.Thr85Met)
|
rs1007978252
|
0.00001
|
|
NM_003106.4(SOX2):c.429C>A (p.Val143=)
|
rs753192651
|
0.00001
|
|
NM_003106.4(SOX2):c.53C>A (p.Ser18Ter)
|
rs750091101
|
0.00001
|
|
NM_003106.4(SOX2):c.560A>G (p.Asn187Ser)
|
rs1394727952
|
0.00001
|
|
NM_005996.4(TBX3):c.1184A>C (p.His395Pro)
|
rs562854136
|
0.00001
|
|
NM_005996.4(TBX3):c.1233G>A (p.Ala411=)
|
rs148511845
|
0.00001
|
|
NM_005996.4(TBX3):c.1269G>A (p.Ser423=)
|
rs773964538
|
0.00001
|
|
NM_005996.4(TBX3):c.1308C>T (p.Ser436=)
|
rs1379535419
|
0.00001
|
|
NM_005996.4(TBX3):c.1392G>A (p.Val464=)
|
rs1362129103
|
0.00001
|
|
NM_005996.4(TBX3):c.1428C>T (p.Gly476=)
|
rs1279373184
|
0.00001
|
|
NM_005996.4(TBX3):c.1432C>T (p.Leu478=)
|
rs779479067
|
0.00001
|
|
NM_005996.4(TBX3):c.1526G>C (p.Gly509Ala)
|
rs1370487115
|
0.00001
|
|
NM_005996.4(TBX3):c.1624G>A (p.Ala542Thr)
|
rs374941856
|
0.00001
|
|
NM_005996.4(TBX3):c.1639G>T (p.Ala547Ser)
|
rs1281379922
|
0.00001
|
|
NM_005996.4(TBX3):c.1695C>T (p.His565=)
|
rs528110988
|
0.00001
|
|
NM_005996.4(TBX3):c.1791G>A (p.Ala597=)
|
rs1283299550
|
0.00001
|
|
NM_005996.4(TBX3):c.1815C>T (p.Arg605=)
|
rs770459748
|
0.00001
|
|
NM_005996.4(TBX3):c.1908C>T (p.Leu636=)
|
rs920252476
|
0.00001
|
|
NM_005996.4(TBX3):c.1954G>A (p.Gly652Ser)
|
rs1367860375
|
0.00001
|
|
NM_005996.4(TBX3):c.231G>T (p.Pro77=)
|
rs762341478
|
0.00001
|
|
NM_005996.4(TBX3):c.309C>T (p.Pro103=)
|
rs534364535
|
0.00001
|
|
NM_005996.4(TBX3):c.463A>G (p.Ile155Val)
|
rs1296731331
|
0.00001
|
|
NM_005996.4(TBX3):c.483T>C (p.Cys161=)
|
rs148252329
|
0.00001
|
|
NM_005996.4(TBX3):c.511A>C (p.Met171Leu)
|
rs905399897
|
0.00001
|
|
NM_005996.4(TBX3):c.636C>T (p.Asn212=)
|
rs1868898424
|
0.00001
|
|
NM_005996.4(TBX3):c.959C>T (p.Ser320Phe)
|
rs1396893876
|
0.00001
|
|
NM_006147.4(IRF6):c.921C>T (p.Ser307=)
|
rs750815592
|
0.00001
|
|
NM_006147.4(IRF6):c.994G>A (p.Val332Ile)
|
rs139649287
|
0.00001
|
|
NM_006270.5(RRAS):c.102C>T (p.Val34=)
|
rs754204165
|
0.00001
|
|
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala)
|
rs1201865280
|
0.00001
|
|
NM_006270.5(RRAS):c.153+3A>G
|
rs200100211
|
0.00001
|
|
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe)
|
rs908791453
|
0.00001
|
|
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys)
|
rs537601977
|
0.00001
|
|
NM_006270.5(RRAS):c.200C>T (p.Thr67Met)
|
rs778415296
|
0.00001
|
|
NM_006270.5(RRAS):c.201G>A (p.Thr67=)
|
rs1421164782
|
0.00001
|
|
NM_006270.5(RRAS):c.233G>A (p.Arg78Gln)
|
rs1162722748
|
0.00001
|
|
NM_006270.5(RRAS):c.241+13A>G
|
rs765391621
|
0.00001
|
|
NM_006270.5(RRAS):c.296G>A (p.Arg99His)
|
rs1287689249
|
0.00001
|
|
NM_006270.5(RRAS):c.325G>A (p.Ala109Thr)
|
rs1358894507
|
0.00001
|
|
NM_006270.5(RRAS):c.351C>T (p.Asn117=)
|
rs374077706
|
0.00001
|
|
NM_006270.5(RRAS):c.363G>A (p.Lys121=)
|
rs557007484
|
0.00001
|
|
NM_006270.5(RRAS):c.372G>A (p.Thr124=)
|
rs368978550
|
0.00001
|
|
NM_006270.5(RRAS):c.37C>A (p.Arg13=)
|
rs1272875791
|
0.00001
|
|
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys)
|
rs773258112
|
0.00001
|
|
NM_006270.5(RRAS):c.396C>T (p.Arg132=)
|
rs748366671
|
0.00001
|
|
NM_006270.5(RRAS):c.421G>A (p.Gly141Arg)
|
rs373485975
|
0.00001
|
|
NM_006270.5(RRAS):c.422G>C (p.Gly141Ala)
|
rs369240501
|
0.00001
|
|
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter)
|
rs896071517
|
0.00001
|
|
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys)
|
rs767209383
|
0.00001
|
|
NM_006270.5(RRAS):c.453+4C>T
|
rs774803334
|
0.00001
|
|
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr)
|
rs1423079476
|
0.00001
|
|
NM_006270.5(RRAS):c.496G>A (p.Val166Met)
|
rs151171681
|
0.00001
|
|
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly)
|
rs1162824119
|
0.00001
|
|
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu)
|
rs754342165
|
0.00001
|
|
NM_006270.5(RRAS):c.527G>A (p.Arg176His)
|
rs556200895
|
0.00001
|
|
NM_006270.5(RRAS):c.534C>T (p.Asn178=)
|
rs773121618
|
0.00001
|
|
NM_006270.5(RRAS):c.535G>A (p.Val179Met)
|
rs769754956
|
0.00001
|
|
NM_006270.5(RRAS):c.53G>A (p.Gly18Glu)
|
rs1447937831
|
0.00001
|
|
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp)
|
rs538230538
|
0.00001
|
|
NM_006270.5(RRAS):c.614C>T (p.Ala205Val)
|
rs1043558932
|
0.00001
|
|
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser)
|
rs1166281308
|
0.00001
|
|
NM_006270.5(RRAS):c.624G>A (p.Lys208=)
|
rs775471738
|
0.00001
|
|
NM_006270.5(RRAS):c.652C>T (p.Leu218=)
|
rs781768996
|
0.00001
|
|
NM_006270.5(RRAS):c.69C>T (p.Asp23=)
|
rs1458889244
|
0.00001
|
|
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)
|
rs558985706
|
0.00001
|
|
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)
|
rs869025189
|
0.00001
|
|
NM_006912.6(RIT1):c.106+10A>G
|
rs781557110
|
0.00001
|
|
NM_006912.6(RIT1):c.107-9C>G
|
rs200597833
|
0.00001
|
|
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)
|
rs771768320
|
0.00001
|
|
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
|
rs747376042
|
0.00001
|
|
NM_006912.6(RIT1):c.141A>G (p.Pro47=)
|
rs1057524417
|
0.00001
|
|
NM_006912.6(RIT1):c.163+12C>A
|
rs372092063
|
0.00001
|
|
NM_006912.6(RIT1):c.163+6C>A
|
rs1157450415
|
0.00001
|
|
NM_006912.6(RIT1):c.164-11C>T
|
rs960250196
|
0.00001
|
|
NM_006912.6(RIT1):c.208A>T (p.Asn70Tyr)
|
rs1394425355
|
0.00001
|
|
NM_006912.6(RIT1):c.237+14G>C
|
rs772575179
|
0.00001
|
|
NM_006912.6(RIT1):c.238-19G>A
|
rs753538357
|
0.00001
|
|
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)
|
rs869025196
|
0.00001
|
|
NM_006912.6(RIT1):c.252C>T (p.Ala84=)
|
rs758393035
|
0.00001
|
|
NM_006912.6(RIT1):c.257G>A (p.Arg86Gln)
|
rs1185965337
|
0.00001
|
|
NM_006912.6(RIT1):c.326A>G (p.His109Arg)
|
rs1407666045
|
0.00001
|
|
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys)
|
rs375724784
|
0.00001
|
|
NM_006912.6(RIT1):c.35G>A (p.Cys12Tyr)
|
rs1177306699
|
0.00001
|
|
NM_006912.6(RIT1):c.393T>C (p.Leu131=)
|
rs34974790
|
0.00001
|
|
NM_006912.6(RIT1):c.423A>G (p.Leu141=)
|
rs763445246
|
0.00001
|
|
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
|
rs754596127
|
0.00001
|
|
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr)
|
rs1131692009
|
0.00001
|
|
NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys)
|
rs1372704169
|
0.00001
|
|
NM_006912.6(RIT1):c.510T>C (p.Tyr170=)
|
rs765624804
|
0.00001
|
|
NM_006912.6(RIT1):c.516T>C (p.Asp172=)
|
rs148764677
|
0.00001
|
|
NM_006912.6(RIT1):c.539G>A (p.Arg180Gln)
|
rs760845441
|
0.00001
|
|
NM_006912.6(RIT1):c.540G>A (p.Arg180=)
|
rs369738767
|
0.00001
|
|
NM_006912.6(RIT1):c.548G>A (p.Arg183His)
|
rs1673291082
|
0.00001
|
|
NM_006912.6(RIT1):c.564G>A (p.Glu188=)
|
rs1157330685
|
0.00001
|
|
NM_006912.6(RIT1):c.575C>T (p.Ala192Val)
|
rs376391961
|
0.00001
|
|
NM_006912.6(RIT1):c.594G>A (p.Lys198=)
|
rs779457410
|
0.00001
|
|
NM_006912.6(RIT1):c.603C>T (p.Asn201=)
|
rs367886540
|
0.00001
|
|
NM_006912.6(RIT1):c.99G>A (p.Gly33=)
|
rs199914900
|
0.00001
|
|
NM_006939.4(SOS2):c.1000C>T (p.Arg334Cys)
|
rs1364027643
|
0.00001
|
|
NM_006939.4(SOS2):c.1009C>A (p.Leu337Ile)
|
rs1204583343
|
0.00001
|
|
NM_006939.4(SOS2):c.1059G>A (p.Glu353=)
|
rs1231657921
|
0.00001
|
|
NM_006939.4(SOS2):c.1068+20T>C
|
rs766636506
|
0.00001
|
|
NM_006939.4(SOS2):c.1072T>C (p.Leu358=)
|
rs751147588
|
0.00001
|
|
NM_006939.4(SOS2):c.1121C>A (p.Ala374Asp)
|
rs1447501425
|
0.00001
|
|
NM_006939.4(SOS2):c.1146A>G (p.Gln382=)
|
rs1178247373
|
0.00001
|
|
NM_006939.4(SOS2):c.1196+16T>A
|
rs1885007067
|
0.00001
|
|
NM_006939.4(SOS2):c.1197-3T>C
|
rs1252986580
|
0.00001
|
|
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu)
|
rs201265921
|
0.00001
|
|
NM_006939.4(SOS2):c.1273A>G (p.Lys425Glu)
|
rs372203654
|
0.00001
|
|
NM_006939.4(SOS2):c.1312T>C (p.Cys438Arg)
|
rs368795570
|
0.00001
|
|
NM_006939.4(SOS2):c.1326C>T (p.Phe442=)
|
rs150365706
|
0.00001
|
|
NM_006939.4(SOS2):c.142A>G (p.Ile48Val)
|
rs763552267
|
0.00001
|
|
NM_006939.4(SOS2):c.1430G>A (p.Arg477Gln)
|
rs139953230
|
0.00001
|
|
NM_006939.4(SOS2):c.1443C>T (p.Tyr481=)
|
rs755043578
|
0.00001
|
|
NM_006939.4(SOS2):c.1446T>C (p.Ser482=)
|
rs1468565433
|
0.00001
|
|
NM_006939.4(SOS2):c.1458C>T (p.Tyr486=)
|
rs199651967
|
0.00001
|
|
NM_006939.4(SOS2):c.1557G>C (p.Glu519Asp)
|
rs1884935096
|
0.00001
|
|
NM_006939.4(SOS2):c.1615C>T (p.Leu539Phe)
|
rs781687371
|
0.00001
|
|
NM_006939.4(SOS2):c.1633C>T (p.Arg545Cys)
|
rs148019428
|
0.00001
|
|
NM_006939.4(SOS2):c.1714G>A (p.Val572Ile)
|
rs762733592
|
0.00001
|
|
NM_006939.4(SOS2):c.1716A>G (p.Val572=)
|
rs772880193
|
0.00001
|
|
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu)
|
rs748480687
|
0.00001
|
|
NM_006939.4(SOS2):c.1747A>G (p.Asn583Asp)
|
rs1388854755
|
0.00001
|
|
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=)
|
rs780152724
|
0.00001
|
|
NM_006939.4(SOS2):c.1853-10G>A
|
rs1033696008
|
0.00001
|
|
NM_006939.4(SOS2):c.1859A>G (p.Asn620Ser)
|
rs772156276
|
0.00001
|
|
NM_006939.4(SOS2):c.1889G>A (p.Arg630His)
|
rs754778456
|
0.00001
|
|
NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp)
|
rs751563078
|
0.00001
|
|
NM_006939.4(SOS2):c.1934+13T>C
|
rs764631414
|
0.00001
|
|
NM_006939.4(SOS2):c.1935-16T>C
|
rs750298172
|
0.00001
|
|
NM_006939.4(SOS2):c.1973A>G (p.Lys658Arg)
|
rs1317956888
|
0.00001
|
|
NM_006939.4(SOS2):c.1975T>C (p.Leu659=)
|
rs775886849
|
0.00001
|
|
NM_006939.4(SOS2):c.1989A>G (p.Lys663=)
|
rs1488158197
|
0.00001
|
|
NM_006939.4(SOS2):c.2057+15T>A
|
rs1374367606
|
0.00001
|
|
NM_006939.4(SOS2):c.2068G>A (p.Val690Ile)
|
rs766745289
|
0.00001
|
|
NM_006939.4(SOS2):c.214-12G>A
|
rs763259138
|
0.00001
|
|
NM_006939.4(SOS2):c.2161+10A>G
|
rs201629454
|
0.00001
|
|
NM_006939.4(SOS2):c.2162-11T>C
|
rs369526899
|
0.00001
|
|
NM_006939.4(SOS2):c.2184A>C (p.Val728=)
|
rs776046903
|
0.00001
|
|
NM_006939.4(SOS2):c.2245A>G (p.Asn749Asp)
|
rs764992819
|
0.00001
|
|
NM_006939.4(SOS2):c.2246A>G (p.Asn749Ser)
|
rs761689009
|
0.00001
|
|
NM_006939.4(SOS2):c.2253C>T (p.Thr751=)
|
rs1050544302
|
0.00001
|
|
NM_006939.4(SOS2):c.2255T>A (p.Phe752Tyr)
|
rs1392882497
|
0.00001
|
|
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu)
|
rs868005783
|
0.00001
|
|
NM_006939.4(SOS2):c.2269C>T (p.Pro757Ser)
|
rs775139330
|
0.00001
|
|
NM_006939.4(SOS2):c.2271A>G (p.Pro757=)
|
rs1457757510
|
0.00001
|
|
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)
|
rs779464455
|
0.00001
|
|
NM_006939.4(SOS2):c.2385-6C>T
|
rs147948407
|
0.00001
|
|
NM_006939.4(SOS2):c.2443A>G (p.Asn815Asp)
|
rs886041958
|
0.00001
|
|
NM_006939.4(SOS2):c.2471G>A (p.Arg824His)
|
rs1433825913
|
0.00001
|
|
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser)
|
rs751419448
|
0.00001
|
|
NM_006939.4(SOS2):c.2643A>G (p.Val881=)
|
rs1329137002
|
0.00001
|
|
NM_006939.4(SOS2):c.2646C>T (p.Tyr882=)
|
rs761205651
|
0.00001
|
|
NM_006939.4(SOS2):c.2657A>G (p.His886Arg)
|
rs775815870
|
0.00001
|
|
NM_006939.4(SOS2):c.2668-10A>G
|
rs376672810
|
0.00001
|
|
NM_006939.4(SOS2):c.2722G>A (p.Asp908Asn)
|
rs957376198
|
0.00001
|
|
NM_006939.4(SOS2):c.2730T>A (p.Phe910Leu)
|
rs756711721
|
0.00001
|
|
NM_006939.4(SOS2):c.273A>G (p.Gln91=)
|
rs757139228
|
0.00001
|
|
NM_006939.4(SOS2):c.2849G>A (p.Gly950Glu)
|
rs765330931
|
0.00001
|
|
NM_006939.4(SOS2):c.2916T>C (p.Tyr972=)
|
rs979918396
|
0.00001
|
|
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys)
|
rs772746106
|
0.00001
|
|
NM_006939.4(SOS2):c.2958+17C>T
|
rs889359090
|
0.00001
|
|
NM_006939.4(SOS2):c.2985G>A (p.Met995Ile)
|
rs746630297
|
0.00001
|
|
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser)
|
rs779413196
|
0.00001
|
|
NM_006939.4(SOS2):c.3042T>A (p.Ile1014=)
|
rs1447097552
|
0.00001
|
|
NM_006939.4(SOS2):c.3056G>A (p.Cys1019Tyr)
|
rs1883997609
|
0.00001
|
|
NM_006939.4(SOS2):c.3076-20A>T
|
rs760423846
|
0.00001
|
|
NM_006939.4(SOS2):c.3076-3C>T
|
rs1293540485
|
0.00001
|
|
NM_006939.4(SOS2):c.3079A>C (p.Arg1027=)
|
rs1273822060
|
0.00001
|
|
NM_006939.4(SOS2):c.3097T>C (p.Leu1033=)
|
rs1047180820
|
0.00001
|
|
NM_006939.4(SOS2):c.3138C>T (p.Gly1046=)
|
rs755189158
|
0.00001
|
|
NM_006939.4(SOS2):c.3147A>G (p.Ser1049=)
|
rs750291417
|
0.00001
|
|
NM_006939.4(SOS2):c.3149G>T (p.Gly1050Val)
|
rs1012247714
|
0.00001
|
|
NM_006939.4(SOS2):c.3153T>A (p.Thr1051=)
|
rs1156744729
|
0.00001
|
|
NM_006939.4(SOS2):c.3174A>G (p.Pro1058=)
|
rs763708050
|
0.00001
|
|
NM_006939.4(SOS2):c.3215C>T (p.Ala1072Val)
|
rs1798276045
|
0.00001
|
|
NM_006939.4(SOS2):c.3244G>A (p.Ala1082Thr)
|
rs1470270507
|
0.00001
|
|
NM_006939.4(SOS2):c.3266C>A (p.Pro1089Gln)
|
rs1409054252
|
0.00001
|
|
NM_006939.4(SOS2):c.3267A>G (p.Pro1089=)
|
rs748295112
|
0.00001
|
|
NM_006939.4(SOS2):c.3275C>T (p.Pro1092Leu)
|
rs1442962879
|
0.00001
|
|
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser)
|
rs755233845
|
0.00001
|
|
NM_006939.4(SOS2):c.3279A>C (p.Pro1093=)
|
rs780697283
|
0.00001
|
|
NM_006939.4(SOS2):c.3338-6C>G
|
rs749149552
|
0.00001
|
|
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val)
|
rs376113934
|
0.00001
|
|
NM_006939.4(SOS2):c.339G>A (p.Ser113=)
|
rs543155109
|
0.00001
|
|
NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser)
|
rs372874114
|
0.00001
|
|
NM_006939.4(SOS2):c.340T>C (p.Leu114=)
|
rs1886467495
|
0.00001
|
|
NM_006939.4(SOS2):c.346-3C>T
|
rs758131262
|
0.00001
|
|
NM_006939.4(SOS2):c.3502T>C (p.Ser1168Pro)
|
rs756607027
|
0.00001
|
|
NM_006939.4(SOS2):c.3531G>A (p.Pro1177=)
|
rs1248324702
|
0.00001
|
|
NM_006939.4(SOS2):c.3571G>C (p.Val1191Leu)
|
rs934357386
|
0.00001
|
|
NM_006939.4(SOS2):c.3573T>G (p.Val1191=)
|
rs756940411
|
0.00001
|
|
NM_006939.4(SOS2):c.357G>A (p.Gly119=)
|
rs749639774
|
0.00001
|
|
NM_006939.4(SOS2):c.360C>T (p.Tyr120=)
|
rs762044455
|
0.00001
|
|
NM_006939.4(SOS2):c.3615G>A (p.Pro1205=)
|
rs750601074
|
0.00001
|
|
NM_006939.4(SOS2):c.3619C>T (p.Pro1207Ser)
|
rs1883398374
|
0.00001
|
|
NM_006939.4(SOS2):c.362A>G (p.Lys121Arg)
|
rs1456011298
|
0.00001
|
|
NM_006939.4(SOS2):c.3642T>C (p.Asp1214=)
|
rs376033858
|
0.00001
|
|
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)
|
rs201756168
|
0.00001
|
|
NM_006939.4(SOS2):c.3738A>C (p.Ser1246=)
|
rs767257405
|
0.00001
|
|
NM_006939.4(SOS2):c.374A>T (p.His125Leu)
|
rs777300218
|
0.00001
|
|
NM_006939.4(SOS2):c.3761C>G (p.Thr1254Arg)
|
rs772587016
|
0.00001
|
|
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=)
|
rs747521589
|
0.00001
|
|
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser)
|
rs780772018
|
0.00001
|
|
NM_006939.4(SOS2):c.3793A>G (p.Thr1265Ala)
|
rs1053118797
|
0.00001
|
|
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)
|
rs200104745
|
0.00001
|
|
NM_006939.4(SOS2):c.3824A>G (p.Tyr1275Cys)
|
rs371619971
|
0.00001
|
|
NM_006939.4(SOS2):c.3825T>C (p.Tyr1275=)
|
rs1163199209
|
0.00001
|
|
NM_006939.4(SOS2):c.3845A>G (p.Asn1282Ser)
|
rs376158218
|
0.00001
|
|
NM_006939.4(SOS2):c.384A>G (p.Leu128=)
|
rs772264111
|
0.00001
|
|
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu)
|
rs865922330
|
0.00001
|
|
NM_006939.4(SOS2):c.3945G>A (p.Ser1315=)
|
rs143427064
|
0.00001
|
|
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=)
|
rs751408063
|
0.00001
|
|
NM_006939.4(SOS2):c.396T>C (p.Ala132=)
|
rs774402309
|
0.00001
|
|
NM_006939.4(SOS2):c.3984A>G (p.Ala1328=)
|
rs776266602
|
0.00001
|
|
NM_006939.4(SOS2):c.3987A>C (p.Glu1329Asp)
|
rs146527239
|
0.00001
|
|
NM_006939.4(SOS2):c.533A>C (p.Gln178Pro)
|
rs1273376869
|
0.00001
|
|
NM_006939.4(SOS2):c.575G>C (p.Ser192Thr)
|
rs1886005182
|
0.00001
|
|
NM_006939.4(SOS2):c.592A>T (p.Asn198Tyr)
|
rs753283972
|
0.00001
|
|
NM_006939.4(SOS2):c.600T>C (p.Tyr200=)
|
rs766470992
|
0.00001
|
|
NM_006939.4(SOS2):c.643C>T (p.Arg215Trp)
|
rs745812984
|
0.00001
|
|
NM_006939.4(SOS2):c.680C>G (p.Ala227Gly)
|
rs756565236
|
0.00001
|
|
NM_006939.4(SOS2):c.753T>C (p.His251=)
|
rs1283549797
|
0.00001
|
|
NM_006939.4(SOS2):c.780G>T (p.Leu260Phe)
|
rs1348457314
|
0.00001
|
|
NM_006939.4(SOS2):c.804T>C (p.Thr268=)
|
rs750437794
|
0.00001
|
|
NM_006939.4(SOS2):c.813C>T (p.Ser271=)
|
rs371598827
|
0.00001
|
|
NM_006939.4(SOS2):c.839G>C (p.Cys280Ser)
|
rs530007285
|
0.00001
|
|
NM_006939.4(SOS2):c.84G>A (p.Arg28=)
|
rs766189187
|
0.00001
|
|
NM_006939.4(SOS2):c.858+7T>C
|
rs560994504
|
0.00001
|
|
NM_006939.4(SOS2):c.859-10A>T
|
rs761341096
|
0.00001
|
|
NM_006939.4(SOS2):c.87+19G>A
|
rs1409712681
|
0.00001
|
|
NM_006939.4(SOS2):c.88-13C>A
|
rs749789629
|
0.00001
|
|
NM_006939.4(SOS2):c.88-17A>G
|
rs776823815
|
0.00001
|
|
NM_006939.4(SOS2):c.88-5T>A
|
rs767732779
|
0.00001
|
|
NM_006939.4(SOS2):c.954T>A (p.Val318=)
|
rs1376460738
|
0.00001
|
|
NM_006939.4(SOS2):c.958C>T (p.Leu320=)
|
rs777858898
|
0.00001
|
|
NM_006939.4(SOS2):c.970-14T>A
|
rs758285778
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1049G>A (p.Arg350Gln)
|
rs748722795
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1053A>G (p.Ala351=)
|
rs1208777030
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1075C>G (p.His359Asp)
|
rs1378507372
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1144T>C (p.Cys382Arg)
|
rs200162096
|
0.00001
|
|
NM_012431.3(SEMA3E):c.116-15C>T
|
rs745461858
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1198G>T (p.Asp400Tyr)
|
rs766917020
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1214C>T (p.Ala405Val)
|
rs1390797360
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1221T>C (p.Ser407=)
|
rs1435041618
|
0.00001
|
|
NM_012431.3(SEMA3E):c.122T>C (p.Leu41Ser)
|
rs778519947
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1313T>C (p.Val438Ala)
|
rs755186079
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1322T>C (p.Val441Ala)
|
rs765714534
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1337G>A (p.Gly446Asp)
|
rs1788207145
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1367-4A>G
|
rs927631455
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1429G>A (p.Val477Ile)
|
rs1327334624
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1443A>T (p.Glu481Asp)
|
rs764562322
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1480A>G (p.Met494Val)
|
rs145819479
|
0.00001
|
|
NM_012431.3(SEMA3E):c.149A>G (p.His50Arg)
|
rs777818746
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1506G>T (p.Gln502His)
|
rs1170846873
|
0.00001
|
|
NM_012431.3(SEMA3E):c.154C>A (p.Pro52Thr)
|
rs1033262030
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1667+3G>A
|
rs778403800
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1690C>T (p.Arg564Ter)
|
rs1420638220
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1754C>A (p.Thr585Asn)
|
rs761147897
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1876-11T>C
|
rs542379432
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1918C>T (p.Leu640Phe)
|
rs1246755098
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=)
|
rs755163849
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1977T>C (p.His659=)
|
rs1451860370
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1991C>T (p.Thr664Met)
|
rs375536813
|
0.00001
|
|
NM_012431.3(SEMA3E):c.1992G>A (p.Thr664=)
|
rs753319647
|
0.00001
|
|
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=)
|
rs146635766
|
0.00001
|
|
NM_012431.3(SEMA3E):c.2053G>A (p.Asp685Asn)
|
rs768606535
|
0.00001
|
|
NM_012431.3(SEMA3E):c.2057A>T (p.Asp686Val)
|
rs371910815
|
0.00001
|
|
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=)
|
rs765040215
|
0.00001
|
|
NM_012431.3(SEMA3E):c.233T>C (p.Val78Ala)
|
rs765517064
|
0.00001
|
|
NM_012431.3(SEMA3E):c.237T>C (p.Tyr79=)
|
rs1790350122
|
0.00001
|
|
NM_012431.3(SEMA3E):c.265G>A (p.Gly89Ser)
|
rs759100269
|
0.00001
|
|
NM_012431.3(SEMA3E):c.276+19G>C
|
rs186974190
|
0.00001
|
|
NM_012431.3(SEMA3E):c.321G>A (p.Met107Ile)
|
rs1789839857
|
0.00001
|
|
NM_012431.3(SEMA3E):c.336G>A (p.Ala112=)
|
rs770979660
|
0.00001
|
|
NM_012431.3(SEMA3E):c.378C>T (p.Asn126=)
|
rs758897440
|
0.00001
|
|
NM_012431.3(SEMA3E):c.475G>C (p.Glu159Gln)
|
rs1241693530
|
0.00001
|
|
NM_012431.3(SEMA3E):c.520C>T (p.Pro174Ser)
|
rs1441322114
|
0.00001
|
|
NM_012431.3(SEMA3E):c.551-17C>T
|
rs771573182
|
0.00001
|
|
NM_012431.3(SEMA3E):c.566C>T (p.Ala189Val)
|
rs765052488
|
0.00001
|
|
NM_012431.3(SEMA3E):c.576C>T (p.Tyr192=)
|
rs756263299
|
0.00001
|
|
NM_012431.3(SEMA3E):c.58T>C (p.Trp20Arg)
|
rs963545974
|
0.00001
|
|
NM_012431.3(SEMA3E):c.597C>T (p.Asp199=)
|
rs200688368
|
0.00001
|
|
NM_012431.3(SEMA3E):c.600T>G (p.Ala200=)
|
rs773812106
|
0.00001
|
|
NM_012431.3(SEMA3E):c.616A>G (p.Met206Val)
|
rs745626807
|
0.00001
|
|
NM_012431.3(SEMA3E):c.635T>C (p.Ile212Thr)
|
rs1429112884
|
0.00001
|
|
NM_012431.3(SEMA3E):c.642T>G (p.Thr214=)
|
rs1457393978
|
0.00001
|
|
NM_012431.3(SEMA3E):c.670+12G>A
|
rs1383072223
|
0.00001
|
|
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=)
|
rs143878781
|
0.00001
|
|
NM_012431.3(SEMA3E):c.802C>A (p.Arg268=)
|
rs769859383
|
0.00001
|
|
NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)
|
rs749567149
|
0.00001
|
|
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=)
|
rs756513699
|
0.00001
|
|
NM_012431.3(SEMA3E):c.999-10T>C
|
rs371994521
|
0.00001
|
|
NM_012431.3(SEMA3E):c.999-3C>T
|
rs566304903
|
0.00001
|
|
NM_012431.3(SEMA3E):c.999-9A>G
|
rs776954864
|
0.00001
|
|
NM_016277.5(RAB23):c.117G>A (p.Lys39=)
|
rs771469793
|
0.00001
|
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
|
NM_016277.5(RAB23):c.155+6dup
|
rs761067059
|
0.00001
|
|
NM_016277.5(RAB23):c.184T>C (p.Leu62=)
|
rs779101760
|
0.00001
|
|
NM_016277.5(RAB23):c.218C>T (p.Ala73Val)
|
rs556931606
|
0.00001
|
|
NM_016277.5(RAB23):c.222T>C (p.Ile74=)
|
rs759497648
|
0.00001
|
|
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro)
|
rs766250966
|
0.00001
|
|
NM_016277.5(RAB23):c.24C>T (p.Val8=)
|
rs752991124
|
0.00001
|
|
NM_016277.5(RAB23):c.327C>T (p.Ala109=)
|
rs370959474
|
0.00001
|
|
NM_016277.5(RAB23):c.333G>A (p.Val111=)
|
rs749833240
|
0.00001
|
|
NM_016277.5(RAB23):c.351A>G (p.Val117=)
|
rs751291871
|
0.00001
|
|
NM_016277.5(RAB23):c.398+10C>T
|
rs897972213
|
0.00001
|
|
NM_016277.5(RAB23):c.398+9G>A
|
rs376839366
|
0.00001
|
|
NM_016277.5(RAB23):c.399-6G>A
|
rs778655052
|
0.00001
|
|
NM_016277.5(RAB23):c.408dup (p.Glu137Ter)
|
rs1438138090
|
0.00001
|
|
NM_016277.5(RAB23):c.426G>A (p.Arg142=)
|
rs763680429
|
0.00001
|
|
NM_016277.5(RAB23):c.482-9T>G
|
rs777259479
|
0.00001
|
|
NM_016277.5(RAB23):c.48G>C (p.Gly16=)
|
rs1454253077
|
0.00001
|
|
NM_016277.5(RAB23):c.547C>T (p.Leu183=)
|
rs1473586028
|
0.00001
|
|
NM_016277.5(RAB23):c.555T>C (p.His185=)
|
rs765954442
|
0.00001
|
|
NM_016277.5(RAB23):c.574+10T>C
|
rs754164616
|
0.00001
|
|
NM_016277.5(RAB23):c.574+8C>T
|
rs779119268
|
0.00001
|
|
NM_016277.5(RAB23):c.582T>C (p.Phe194=)
|
rs1332930442
|
0.00001
|
|
NM_016277.5(RAB23):c.603C>T (p.His201=)
|
rs372315508
|
0.00001
|
|
NM_016277.5(RAB23):c.627C>T (p.Leu209=)
|
rs1318546806
|
0.00001
|
|
NM_016277.5(RAB23):c.693T>C (p.Phe231=)
|
rs1764796444
|
0.00001
|
|
NM_016277.5(RAB23):c.699C>T (p.Ser233=)
|
rs755447089
|
0.00001
|
|
NM_016277.5(RAB23):c.714A>G (p.Ter238=)
|
rs142290596
|
0.00001
|
|
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter)
|
rs765443042
|
0.00001
|
|
NM_016277.5(RAB23):c.93A>G (p.Lys31=)
|
rs201735614
|
0.00001
|
|
NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr)
|
rs747263275
|
0.00001
|
|
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala)
|
rs878893652
|
0.00001
|
|
NM_017780.4(CHD7):c.1085T>C (p.Met362Thr)
|
rs748181926
|
0.00001
|
|
NM_017780.4(CHD7):c.1105C>G (p.Pro369Ala)
|
rs766747354
|
0.00001
|
|
NM_017780.4(CHD7):c.1116A>C (p.Ser372=)
|
rs760034378
|
0.00001
|
|
NM_017780.4(CHD7):c.1141A>G (p.Met381Val)
|
rs144778638
|
0.00001
|
|
NM_017780.4(CHD7):c.1225C>T (p.Pro409Ser)
|
rs1554581580
|
0.00001
|
|
NM_017780.4(CHD7):c.124C>T (p.Pro42Ser)
|
rs1300386910
|
0.00001
|
|
NM_017780.4(CHD7):c.1310A>G (p.His437Arg)
|
rs746261185
|
0.00001
|
|
NM_017780.4(CHD7):c.1327A>G (p.Met443Val)
|
rs559364802
|
0.00001
|
|
NM_017780.4(CHD7):c.1361A>G (p.Asn454Ser)
|
rs766249962
|
0.00001
|
|
NM_017780.4(CHD7):c.1395C>T (p.Ser465=)
|
rs747525292
|
0.00001
|
|
NM_017780.4(CHD7):c.139T>G (p.Phe47Val)
|
rs1364452059
|
0.00001
|
|
NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp)
|
rs547298242
|
0.00001
|
|
NM_017780.4(CHD7):c.1512A>G (p.Gln504=)
|
rs587783430
|
0.00001
|
|
NM_017780.4(CHD7):c.1539C>T (p.Thr513=)
|
rs777411052
|
0.00001
|
|
NM_017780.4(CHD7):c.1566C>T (p.Gly522=)
|
rs759347960
|
0.00001
|
|
NM_017780.4(CHD7):c.156A>G (p.Pro52=)
|
rs398124315
|
0.00001
|
|
NM_017780.4(CHD7):c.1622A>G (p.His541Arg)
|
rs1388338640
|
0.00001
|
|
NM_017780.4(CHD7):c.1626A>G (p.Pro542=)
|
rs747791210
|
0.00001
|
|
NM_017780.4(CHD7):c.1643C>T (p.Pro548Leu)
|
rs778361949
|
0.00001
|
|
NM_017780.4(CHD7):c.164A>G (p.His55Arg)
|
rs121434345
|
0.00001
|
|
NM_017780.4(CHD7):c.1657G>T (p.Val553Leu)
|
rs745476515
|
0.00001
|
|
NM_017780.4(CHD7):c.1665+17C>T
|
rs760402351
|
0.00001
|
|
NM_017780.4(CHD7):c.168T>C (p.His56=)
|
rs199776087
|
0.00001
|
|
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)
|
rs764518030
|
0.00001
|
|
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu)
|
rs757689264
|
0.00001
|
|
NM_017780.4(CHD7):c.1704G>A (p.Pro568=)
|
rs765715877
|
0.00001
|
|
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val)
|
rs769625033
|
0.00001
|
|
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser)
|
rs548706525
|
0.00001
|
|
NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys)
|
rs764607908
|
0.00001
|
|
NM_017780.4(CHD7):c.1881A>G (p.Gln627=)
|
rs751273179
|
0.00001
|
|
NM_017780.4(CHD7):c.1890T>C (p.Asn630=)
|
rs754640263
|
0.00001
|
|
NM_017780.4(CHD7):c.1914A>G (p.Gln638=)
|
rs777624090
|
0.00001
|
|
NM_017780.4(CHD7):c.1921A>G (p.Lys641Glu)
|
rs1335682527
|
0.00001
|
|
NM_017780.4(CHD7):c.1977C>T (p.Pro659=)
|
rs886063034
|
0.00001
|
|
NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg)
|
rs1373820202
|
0.00001
|
|
NM_017780.4(CHD7):c.2013G>A (p.Pro671=)
|
rs1361271759
|
0.00001
|
|
NM_017780.4(CHD7):c.202C>T (p.His68Tyr)
|
rs886063032
|
0.00001
|
|
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr)
|
rs1187193827
|
0.00001
|
|
NM_017780.4(CHD7):c.2063C>T (p.Ala688Val)
|
rs759010289
|
0.00001
|
|
NM_017780.4(CHD7):c.2066C>T (p.Thr689Met)
|
rs373706363
|
0.00001
|
|
NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu)
|
rs755898600
|
0.00001
|
|
NM_017780.4(CHD7):c.2098A>G (p.Asn700Asp)
|
rs370267935
|
0.00001
|
|
NM_017780.4(CHD7):c.2175A>G (p.Ser725=)
|
rs1471731176
|
0.00001
|
|
NM_017780.4(CHD7):c.2184C>A (p.Asp728Glu)
|
rs771267153
|
0.00001
|
|
NM_017780.4(CHD7):c.2192C>T (p.Pro731Leu)
|
rs1064794416
|
0.00001
|
|
NM_017780.4(CHD7):c.2238+6A>G
|
rs886042205
|
0.00001
|
|
NM_017780.4(CHD7):c.2377-13C>A
|
rs747682287
|
0.00001
|
|
NM_017780.4(CHD7):c.2377-3T>A
|
rs545931432
|
0.00001
|
|
NM_017780.4(CHD7):c.2442+17C>T
|
rs766555433
|
0.00001
|
|
NM_017780.4(CHD7):c.2527A>G (p.Ile843Val)
|
rs772358323
|
0.00001
|
|
NM_017780.4(CHD7):c.258G>A (p.Pro86=)
|
rs750046226
|
0.00001
|
|
NM_017780.4(CHD7):c.2613+4C>T
|
rs779615403
|
0.00001
|
|
NM_017780.4(CHD7):c.2643T>C (p.Tyr881=)
|
rs587783433
|
0.00001
|
|
NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp)
|
rs772260091
|
0.00001
|
|
NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln)
|
rs1384228127
|
0.00001
|
|
NM_017780.4(CHD7):c.2665G>A (p.Asp889Asn)
|
rs1330677850
|
0.00001
|
|
NM_017780.4(CHD7):c.2697+20A>G
|
rs759236343
|
0.00001
|
|
NM_017780.4(CHD7):c.2698C>T (p.Pro900Ser)
|
rs1224277360
|
0.00001
|
|
NM_017780.4(CHD7):c.2699C>G (p.Pro900Arg)
|
rs755233517
|
0.00001
|
|
NM_017780.4(CHD7):c.2759G>A (p.Arg920Gln)
|
rs1014640333
|
0.00001
|
|
NM_017780.4(CHD7):c.276C>T (p.Asn92=)
|
rs779967922
|
0.00001
|
|
NM_017780.4(CHD7):c.2810C>G (p.Ser937Cys)
|
rs775000989
|
0.00001
|
|
NM_017780.4(CHD7):c.2819C>T (p.Pro940Leu)
|
rs753887911
|
0.00001
|
|
NM_017780.4(CHD7):c.2827G>A (p.Glu943Lys)
|
rs751691380
|
0.00001
|
|
NM_017780.4(CHD7):c.2836-5A>G
|
rs779518202
|
0.00001
|
|
NM_017780.4(CHD7):c.2839C>A (p.Arg947=)
|
rs200220845
|
0.00001
|
|
NM_017780.4(CHD7):c.2853T>A (p.Asp951Glu)
|
rs1804067183
|
0.00001
|
|
NM_017780.4(CHD7):c.2874T>A (p.Ser958Arg)
|
rs773259542
|
0.00001
|
|
NM_017780.4(CHD7):c.289G>A (p.Gly97Arg)
|
rs368160678
|
0.00001
|
|
NM_017780.4(CHD7):c.2956A>G (p.Met986Val)
|
rs764345519
|
0.00001
|
|
NM_017780.4(CHD7):c.297G>A (p.Ala99=)
|
rs775823361
|
0.00001
|
|
NM_017780.4(CHD7):c.3001A>G (p.Ile1001Val)
|
rs375374626
|
0.00001
|
|
NM_017780.4(CHD7):c.3023A>G (p.Tyr1008Cys)
|
rs776900495
|
0.00001
|
|
NM_017780.4(CHD7):c.302C>T (p.Pro101Leu)
|
rs769161426
|
0.00001
|
|
NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val)
|
rs1415116812
|
0.00001
|
|
NM_017780.4(CHD7):c.3047A>G (p.His1016Arg)
|
rs750785243
|
0.00001
|
|
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=)
|
rs201320784
|
0.00001
|
|
NM_017780.4(CHD7):c.3064A>G (p.Ile1022Val)
|
rs767043440
|
0.00001
|
|
NM_017780.4(CHD7):c.3160C>T (p.Arg1054Trp)
|
rs1563631484
|
0.00001
|
|
NM_017780.4(CHD7):c.3202-7C>G
|
rs376893919
|
0.00001
|
|
NM_017780.4(CHD7):c.3206G>A (p.Arg1069Gln)
|
rs1346050533
|
0.00001
|
|
NM_017780.4(CHD7):c.3224A>G (p.Tyr1075Cys)
|
rs759929302
|
0.00001
|
|
NM_017780.4(CHD7):c.323C>A (p.Pro108His)
|
rs369818702
|
0.00001
|
|
NM_017780.4(CHD7):c.3270T>C (p.Asp1090=)
|
rs753213307
|
0.00001
|
|
NM_017780.4(CHD7):c.3298C>T (p.Arg1100Cys)
|
rs753233210
|
0.00001
|
|
NM_017780.4(CHD7):c.3324C>T (p.His1108=)
|
rs189618218
|
0.00001
|
|
NM_017780.4(CHD7):c.3378+16G>A
|
rs771299507
|
0.00001
|
|
NM_017780.4(CHD7):c.33C>T (p.Gly11=)
|
rs560030949
|
0.00001
|
|
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys)
|
rs201769233
|
0.00001
|
|
NM_017780.4(CHD7):c.3483A>G (p.Thr1161=)
|
rs371212381
|
0.00001
|
|
NM_017780.4(CHD7):c.3522+14C>G
|
rs752672896
|
0.00001
|
|
NM_017780.4(CHD7):c.3523-3T>C
|
rs1804451088
|
0.00001
|
|
NM_017780.4(CHD7):c.3525G>A (p.Val1175=)
|
rs1804451207
|
0.00001
|
|
NM_017780.4(CHD7):c.3616A>G (p.Ile1206Val)
|
rs755429625
|
0.00001
|
|
NM_017780.4(CHD7):c.3681A>G (p.Thr1227=)
|
rs748869169
|
0.00001
|
|
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile)
|
rs794727150
|
0.00001
|
|
NM_017780.4(CHD7):c.3776A>G (p.Asn1259Ser)
|
rs1239880284
|
0.00001
|
|
NM_017780.4(CHD7):c.3778+10C>T
|
rs756438089
|
0.00001
|
|
NM_017780.4(CHD7):c.3778+16T>G
|
rs1037329080
|
0.00001
|
|
NM_017780.4(CHD7):c.3778+18G>A
|
rs749741616
|
0.00001
|
|
NM_017780.4(CHD7):c.3825A>T (p.Ala1275=)
|
rs1355369979
|
0.00001
|
|
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln)
|
rs185150226
|
0.00001
|
|
NM_017780.4(CHD7):c.3994C>T (p.Pro1332Ser)
|
rs1804764382
|
0.00001
|
|
NM_017780.4(CHD7):c.4047C>T (p.Ile1349=)
|
rs747100145
|
0.00001
|
|
NM_017780.4(CHD7):c.405G>A (p.Gly135=)
|
rs1586248250
|
0.00001
|
|
NM_017780.4(CHD7):c.4089C>G (p.Leu1363=)
|
rs974334602
|
0.00001
|
|
NM_017780.4(CHD7):c.4194T>C (p.Ala1398=)
|
rs898986489
|
0.00001
|
|
NM_017780.4(CHD7):c.4260T>C (p.Tyr1420=)
|
rs376148485
|
0.00001
|
|
NM_017780.4(CHD7):c.4302G>A (p.Leu1434=)
|
rs760088130
|
0.00001
|
|
NM_017780.4(CHD7):c.4328G>A (p.Ser1443Asn)
|
rs1333684435
|
0.00001
|
|
NM_017780.4(CHD7):c.4354-7A>G
|
rs778196351
|
0.00001
|
|
NM_017780.4(CHD7):c.4392A>G (p.Leu1464=)
|
rs1280225379
|
0.00001
|
|
NM_017780.4(CHD7):c.4446C>T (p.Phe1482=)
|
rs1804820497
|
0.00001
|
|
NM_017780.4(CHD7):c.4477C>T (p.Arg1493Cys)
|
rs1009126876
|
0.00001
|
|
NM_017780.4(CHD7):c.4644+20C>T
|
rs1168248095
|
0.00001
|
|
NM_017780.4(CHD7):c.4691T>C (p.Leu1564Pro)
|
rs1804991326
|
0.00001
|
|
NM_017780.4(CHD7):c.474C>T (p.Ala158=)
|
rs1056527329
|
0.00001
|
|
NM_017780.4(CHD7):c.4777C>T (p.Arg1593Cys)
|
rs763070165
|
0.00001
|
|
NM_017780.4(CHD7):c.4778G>A (p.Arg1593His)
|
rs766632082
|
0.00001
|
|
NM_017780.4(CHD7):c.4782C>G (p.Pro1594=)
|
rs751778680
|
0.00001
|
|
NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu)
|
rs267606724
|
0.00001
|
|
NM_017780.4(CHD7):c.4804G>A (p.Ala1602Thr)
|
rs375951527
|
0.00001
|
|
NM_017780.4(CHD7):c.4811G>C (p.Ser1604Thr)
|
rs367722051
|
0.00001
|
|
NM_017780.4(CHD7):c.482A>G (p.Gln161Arg)
|
rs755340969
|
0.00001
|
|
NM_017780.4(CHD7):c.4846T>C (p.Tyr1616His)
|
rs1249078741
|
0.00001
|
|
NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys)
|
rs200964201
|
0.00001
|
|
NM_017780.4(CHD7):c.4850+13C>T
|
rs1311582288
|
0.00001
|
|
NM_017780.4(CHD7):c.4850+16T>G
|
rs1374096411
|
0.00001
|
|
NM_017780.4(CHD7):c.4850+18C>T
|
rs375486200
|
0.00001
|
|
NM_017780.4(CHD7):c.4860G>C (p.Arg1620=)
|
rs1441410913
|
0.00001
|
|
NM_017780.4(CHD7):c.486G>A (p.Gln162=)
|
rs201635864
|
0.00001
|
|
NM_017780.4(CHD7):c.4899A>G (p.Gln1633=)
|
rs761002319
|
0.00001
|
|
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala)
|
rs372587744
|
0.00001
|
|
NM_017780.4(CHD7):c.498G>A (p.Gln166=)
|
rs1223182973
|
0.00001
|
|
NM_017780.4(CHD7):c.501G>A (p.Pro167=)
|
rs770348243
|
0.00001
|
|
NM_017780.4(CHD7):c.5025G>A (p.Gln1675=)
|
rs769769149
|
0.00001
|
|
NM_017780.4(CHD7):c.5051-17T>G
|
rs754678467
|
0.00001
|
|
NM_017780.4(CHD7):c.5067G>A (p.Val1689=)
|
rs912054705
|
0.00001
|
|
NM_017780.4(CHD7):c.5130C>T (p.Ala1710=)
|
rs966292699
|
0.00001
|
|
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn)
|
rs748590759
|
0.00001
|
|
NM_017780.4(CHD7):c.5148C>T (p.Cys1716=)
|
rs907665748
|
0.00001
|
|
NM_017780.4(CHD7):c.5154A>C (p.Pro1718=)
|
rs988819155
|
0.00001
|
|
NM_017780.4(CHD7):c.5160C>T (p.Ala1720=)
|
rs766759257
|
0.00001
|
|
NM_017780.4(CHD7):c.5191C>T (p.Leu1731=)
|
rs752330796
|
0.00001
|
|
NM_017780.4(CHD7):c.5200C>T (p.His1734Tyr)
|
rs1805162137
|
0.00001
|
|
NM_017780.4(CHD7):c.5210+20A>G
|
rs781624235
|
0.00001
|
|
NM_017780.4(CHD7):c.5211-17T>C
|
rs1805309524
|
0.00001
|
|
NM_017780.4(CHD7):c.5211-19C>A
|
rs371367716
|
0.00001
|
|
NM_017780.4(CHD7):c.528G>A (p.Gly176=)
|
rs986970598
|
0.00001
|
|
NM_017780.4(CHD7):c.5308G>A (p.Asp1770Asn)
|
rs762824174
|
0.00001
|
|
NM_017780.4(CHD7):c.5309A>G (p.Asp1770Gly)
|
rs766488157
|
0.00001
|
|
NM_017780.4(CHD7):c.5367A>T (p.Glu1789Asp)
|
rs1233584524
|
0.00001
|
|
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala)
|
rs780597592
|
0.00001
|
|
NM_017780.4(CHD7):c.5404+10G>A
|
rs780602451
|
0.00001
|
|
NM_017780.4(CHD7):c.5404+9C>T
|
rs755413885
|
0.00001
|
|
NM_017780.4(CHD7):c.5429G>A (p.Arg1810Gln)
|
rs755632561
|
0.00001
|
|
NM_017780.4(CHD7):c.5438C>T (p.Pro1813Leu)
|
rs1317412492
|
0.00001
|
|
NM_017780.4(CHD7):c.5441C>T (p.Ala1814Val)
|
rs1805407417
|
0.00001
|
|
NM_017780.4(CHD7):c.5442G>A (p.Ala1814=)
|
rs558567843
|
0.00001
|
|
NM_017780.4(CHD7):c.5446T>A (p.Cys1816Ser)
|
rs1563657431
|
0.00001
|
|
NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln)
|
rs372644599
|
0.00001
|
|
NM_017780.4(CHD7):c.548C>T (p.Pro183Leu)
|
rs751847978
|
0.00001
|
|
NM_017780.4(CHD7):c.5493C>T (p.Ala1831=)
|
rs773211166
|
0.00001
|
|
NM_017780.4(CHD7):c.549T>C (p.Pro183=)
|
rs775862054
|
0.00001
|
|
NM_017780.4(CHD7):c.5514G>A (p.Met1838Ile)
|
rs374602567
|
0.00001
|
|
NM_017780.4(CHD7):c.5532C>T (p.Asp1844=)
|
rs368279646
|
0.00001
|
|
NM_017780.4(CHD7):c.5565A>G (p.Pro1855=)
|
rs752961577
|
0.00001
|
|
NM_017780.4(CHD7):c.5665+9C>T
|
rs568256905
|
0.00001
|
|
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys)
|
rs766110936
|
0.00001
|
|
NM_017780.4(CHD7):c.5722A>C (p.Thr1908Pro)
|
rs1329534393
|
0.00001
|
|
NM_017780.4(CHD7):c.5735G>A (p.Arg1912His)
|
rs767326758
|
0.00001
|
|
NM_017780.4(CHD7):c.5759A>G (p.Tyr1920Cys)
|
rs768950252
|
0.00001
|
|
NM_017780.4(CHD7):c.577A>G (p.Met193Val)
|
rs542672517
|
0.00001
|
|
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys)
|
rs535347450
|
0.00001
|
|
NM_017780.4(CHD7):c.5797G>A (p.Ala1933Thr)
|
rs1418642683
|
0.00001
|
|
NM_017780.4(CHD7):c.5811T>C (p.Thr1937=)
|
rs370573809
|
0.00001
|
|
NM_017780.4(CHD7):c.5816G>A (p.Arg1939Gln)
|
rs1024797402
|
0.00001
|
|
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln)
|
rs753723769
|
0.00001
|
|
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln)
|
rs374040699
|
0.00001
|
|
NM_017780.4(CHD7):c.583C>T (p.Arg195Cys)
|
rs773990845
|
0.00001
|
|
NM_017780.4(CHD7):c.584G>A (p.Arg195His)
|
rs1250450695
|
0.00001
|
|
NM_017780.4(CHD7):c.5865G>A (p.Arg1955=)
|
rs1448374029
|
0.00001
|
|
NM_017780.4(CHD7):c.5895-3C>T
|
rs757905650
|
0.00001
|
|
NM_017780.4(CHD7):c.5963T>C (p.Val1988Ala)
|
rs1805501956
|
0.00001
|
|
NM_017780.4(CHD7):c.6080G>A (p.Arg2027Gln)
|
rs372077201
|
0.00001
|
|
NM_017780.4(CHD7):c.6104-5T>C
|
rs376131239
|
0.00001
|
|
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His)
|
rs1197494895
|
0.00001
|
|
NM_017780.4(CHD7):c.6195C>T (p.Arg2065=)
|
rs750835437
|
0.00001
|
|
NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val)
|
rs752107963
|
0.00001
|
|
NM_017780.4(CHD7):c.6207C>T (p.Leu2069=)
|
rs755379819
|
0.00001
|
|
NM_017780.4(CHD7):c.6214C>T (p.Pro2072Ser)
|
rs780772673
|
0.00001
|
|
NM_017780.4(CHD7):c.6225A>G (p.Gly2075=)
|
rs886038635
|
0.00001
|
|
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr)
|
rs377497122
|
0.00001
|
|
NM_017780.4(CHD7):c.6284G>A (p.Arg2095Gln)
|
rs773114816
|
0.00001
|
|
NM_017780.4(CHD7):c.631A>C (p.Ser211Arg)
|
rs936848734
|
0.00001
|
|
NM_017780.4(CHD7):c.6321C>T (p.His2107=)
|
rs778800676
|
0.00001
|
|
NM_017780.4(CHD7):c.6349C>T (p.Leu2117Phe)
|
rs367733295
|
0.00001
|
|
NM_017780.4(CHD7):c.6358C>G (p.Pro2120Ala)
|
rs375490876
|
0.00001
|
|
NM_017780.4(CHD7):c.6377A>T (p.Asp2126Val)
|
rs1064794182
|
0.00001
|
|
NM_017780.4(CHD7):c.6396T>C (p.Ala2132=)
|
rs763720460
|
0.00001
|
|
NM_017780.4(CHD7):c.6459T>C (p.Thr2153=)
|
rs1484332534
|
0.00001
|
|
NM_017780.4(CHD7):c.6471C>T (p.Ile2157=)
|
rs1170403904
|
0.00001
|
|
NM_017780.4(CHD7):c.6596G>A (p.Ser2199Asn)
|
rs1064794854
|
0.00001
|
|
NM_017780.4(CHD7):c.6619T>C (p.Cys2207Arg)
|
rs1805560223
|
0.00001
|
|
NM_017780.4(CHD7):c.6624G>A (p.Glu2208=)
|
rs762541154
|
0.00001
|
|
NM_017780.4(CHD7):c.6632C>T (p.Ala2211Val)
|
rs1398262614
|
0.00001
|
|
NM_017780.4(CHD7):c.6670G>A (p.Gly2224Ser)
|
rs758745100
|
0.00001
|
|
NM_017780.4(CHD7):c.6712G>A (p.Glu2238Lys)
|
rs1227502557
|
0.00001
|
|
NM_017780.4(CHD7):c.6753G>A (p.Ser2251=)
|
rs755202253
|
0.00001
|
|
NM_017780.4(CHD7):c.6775+10T>C
|
rs180852795
|
0.00001
|
|
NM_017780.4(CHD7):c.6775+6G>T
|
rs773804340
|
0.00001
|
|
NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val)
|
rs1047690374
|
0.00001
|
|
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp)
|
rs1329129099
|
0.00001
|
|
NM_017780.4(CHD7):c.6851G>A (p.Arg2284Gln)
|
rs542880173
|
0.00001
|
|
NM_017780.4(CHD7):c.685A>G (p.Thr229Ala)
|
rs767816305
|
0.00001
|
|
NM_017780.4(CHD7):c.6936+19C>G
|
rs1410303595
|
0.00001
|
|
NM_017780.4(CHD7):c.6936+6C>T
|
rs762730711
|
0.00001
|
|
NM_017780.4(CHD7):c.6937-8C>T
|
rs765520430
|
0.00001
|
|
NM_017780.4(CHD7):c.6937-9T>G
|
rs1203336052
|
0.00001
|
|
NM_017780.4(CHD7):c.6956G>A (p.Arg2319His)
|
rs765943226
|
0.00001
|
|
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val)
|
rs755973702
|
0.00001
|
|
NM_017780.4(CHD7):c.7010G>A (p.Arg2337His)
|
rs763555514
|
0.00001
|
|
NM_017780.4(CHD7):c.7017G>A (p.Met2339Ile)
|
rs1247369056
|
0.00001
|
|
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu)
|
rs766773531
|
0.00001
|
|
NM_017780.4(CHD7):c.7024T>C (p.Phe2342Leu)
|
rs1419897952
|
0.00001
|
|
NM_017780.4(CHD7):c.702C>G (p.His234Gln)
|
rs565216093
|
0.00001
|
|
NM_017780.4(CHD7):c.7059A>G (p.Thr2353=)
|
rs1271940749
|
0.00001
|
|
NM_017780.4(CHD7):c.705G>A (p.Leu235=)
|
rs918029767
|
0.00001
|
|
NM_017780.4(CHD7):c.711C>T (p.His237=)
|
rs1188337353
|
0.00001
|
|
NM_017780.4(CHD7):c.7120A>G (p.Ile2374Val)
|
rs142095932
|
0.00001
|
|
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met)
|
rs1287878235
|
0.00001
|
|
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys)
|
rs753446252
|
0.00001
|
|
NM_017780.4(CHD7):c.7183T>C (p.Ser2395Pro)
|
rs1285534131
|
0.00001
|
|
NM_017780.4(CHD7):c.7198C>T (p.Arg2400Trp)
|
rs770959300
|
0.00001
|
|
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln)
|
rs534510177
|
0.00001
|
|
NM_017780.4(CHD7):c.7221C>T (p.Ile2407=)
|
rs777847508
|
0.00001
|
|
NM_017780.4(CHD7):c.7224A>G (p.Glu2408=)
|
rs749492213
|
0.00001
|
|
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=)
|
rs771141688
|
0.00001
|
|
NM_017780.4(CHD7):c.733A>G (p.Met245Val)
|
rs768507639
|
0.00001
|
|
NM_017780.4(CHD7):c.7380T>G (p.Ser2460=)
|
rs1259500954
|
0.00001
|
|
NM_017780.4(CHD7):c.73G>A (p.Gly25Arg)
|
rs759887905
|
0.00001
|
|
NM_017780.4(CHD7):c.7411T>C (p.Ser2471Pro)
|
rs769178123
|
0.00001
|
|
NM_017780.4(CHD7):c.7416A>G (p.Thr2472=)
|
rs769395535
|
0.00001
|
|
NM_017780.4(CHD7):c.7469C>T (p.Ser2490Leu)
|
rs371595770
|
0.00001
|
|
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His)
|
rs528722099
|
0.00001
|
|
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser)
|
rs547209998
|
0.00001
|
|
NM_017780.4(CHD7):c.7537C>T (p.Arg2513Trp)
|
rs529799008
|
0.00001
|
|
NM_017780.4(CHD7):c.7538G>A (p.Arg2513Gln)
|
rs1064794649
|
0.00001
|
|
NM_017780.4(CHD7):c.7609-4G>T
|
rs955067555
|
0.00001
|
|
NM_017780.4(CHD7):c.7655C>T (p.Pro2552Leu)
|
rs1805941132
|
0.00001
|
|
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu)
|
rs776711005
|
0.00001
|
|
NM_017780.4(CHD7):c.7681G>A (p.Gly2561Arg)
|
rs774255090
|
0.00001
|
|
NM_017780.4(CHD7):c.768C>T (p.Phe256=)
|
rs727503859
|
0.00001
|
|
NM_017780.4(CHD7):c.7752T>A (p.Asp2584Glu)
|
rs1427104456
|
0.00001
|
|
NM_017780.4(CHD7):c.7775T>C (p.Val2592Ala)
|
rs754831330
|
0.00001
|
|
NM_017780.4(CHD7):c.7789C>T (p.Leu2597=)
|
rs774537514
|
0.00001
|
|
NM_017780.4(CHD7):c.778C>T (p.Pro260Ser)
|
rs766382878
|
0.00001
|
|
NM_017780.4(CHD7):c.7800T>G (p.Thr2600=)
|
rs772124801
|
0.00001
|
|
NM_017780.4(CHD7):c.7818A>G (p.Pro2606=)
|
rs764474527
|
0.00001
|
|
NM_017780.4(CHD7):c.7830+15G>A
|
rs776953479
|
0.00001
|
|
NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu)
|
rs1468230389
|
0.00001
|
|
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln)
|
rs747082615
|
0.00001
|
|
NM_017780.4(CHD7):c.7962T>C (p.Asn2654=)
|
rs1372823546
|
0.00001
|
|
NM_017780.4(CHD7):c.7972-10C>G
|
rs912810188
|
0.00001
|
|
NM_017780.4(CHD7):c.7972-4C>T
|
rs1193013965
|
0.00001
|
|
NM_017780.4(CHD7):c.8040A>G (p.Ala2680=)
|
rs576905094
|
0.00001
|
|
NM_017780.4(CHD7):c.804C>T (p.Ser268=)
|
rs780756877
|
0.00001
|
|
NM_017780.4(CHD7):c.8067T>G (p.Val2689=)
|
rs772599631
|
0.00001
|
|
NM_017780.4(CHD7):c.8128C>T (p.Arg2710Trp)
|
rs1418386669
|
0.00001
|
|
NM_017780.4(CHD7):c.813C>T (p.His271=)
|
rs773253450
|
0.00001
|
|
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)
|
rs573554562
|
0.00001
|
|
NM_017780.4(CHD7):c.8168G>A (p.Ser2723Asn)
|
rs756347672
|
0.00001
|
|
NM_017780.4(CHD7):c.817C>T (p.Pro273Ser)
|
rs1284559737
|
0.00001
|
|
NM_017780.4(CHD7):c.8254G>A (p.Gly2752Arg)
|
rs373124679
|
0.00001
|
|
NM_017780.4(CHD7):c.8298G>A (p.Ser2766=)
|
rs747420884
|
0.00001
|
|
NM_017780.4(CHD7):c.8353G>A (p.Ala2785Thr)
|
rs935815422
|
0.00001
|
|
NM_017780.4(CHD7):c.8365G>A (p.Ala2789Thr)
|
rs200140270
|
0.00001
|
|
NM_017780.4(CHD7):c.8389C>T (p.Pro2797Ser)
|
rs769500488
|
0.00001
|
|
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg)
|
rs760775347
|
0.00001
|
|
NM_017780.4(CHD7):c.8413G>A (p.Gly2805Ser)
|
rs759567393
|
0.00001
|
|
NM_017780.4(CHD7):c.8418G>C (p.Leu2806=)
|
rs776919709
|
0.00001
|
|
NM_017780.4(CHD7):c.8424C>T (p.Asn2808=)
|
rs773594482
|
0.00001
|
|
NM_017780.4(CHD7):c.8425G>A (p.Val2809Met)
|
rs763048936
|
0.00001
|
|
NM_017780.4(CHD7):c.8440G>A (p.Gly2814Arg)
|
rs964405365
|
0.00001
|
|
NM_017780.4(CHD7):c.8452_8454dup (p.Asn2818dup)
|
rs1443281585
|
0.00001
|
|
NM_017780.4(CHD7):c.8556C>T (p.Asp2852=)
|
rs794727604
|
0.00001
|
|
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys)
|
rs774843956
|
0.00001
|
|
NM_017780.4(CHD7):c.8562C>G (p.Asn2854Lys)
|
rs1222693383
|
0.00001
|
|
NM_017780.4(CHD7):c.860C>T (p.Pro287Leu)
|
rs762290343
|
0.00001
|
|
NM_017780.4(CHD7):c.861G>A (p.Pro287=)
|
rs1007919674
|
0.00001
|
|
NM_017780.4(CHD7):c.8623G>C (p.Gly2875Arg)
|
rs768688793
|
0.00001
|
|
NM_017780.4(CHD7):c.8632A>G (p.Thr2878Ala)
|
rs773395000
|
0.00001
|
|
NM_017780.4(CHD7):c.8646A>C (p.Gly2882=)
|
rs1586468596
|
0.00001
|
|
NM_017780.4(CHD7):c.8663T>C (p.Leu2888Pro)
|
rs764758566
|
0.00001
|
|
NM_017780.4(CHD7):c.8751G>C (p.Thr2917=)
|
rs761033941
|
0.00001
|
|
NM_017780.4(CHD7):c.8773G>A (p.Ala2925Thr)
|
rs762344310
|
0.00001
|
|
NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys)
|
rs374344463
|
0.00001
|
|
NM_017780.4(CHD7):c.8803G>A (p.Glu2935Lys)
|
rs745944842
|
0.00001
|
|
NM_017780.4(CHD7):c.883C>T (p.Arg295Trp)
|
rs750978197
|
0.00001
|
|
NM_017780.4(CHD7):c.884G>A (p.Arg295Gln)
|
rs569799707
|
0.00001
|
|
NM_017780.4(CHD7):c.8856C>A (p.Thr2952=)
|
rs770325741
|
0.00001
|
|
NM_017780.4(CHD7):c.8859T>C (p.Leu2953=)
|
rs1218577575
|
0.00001
|
|
NM_017780.4(CHD7):c.8868C>T (p.Ser2956=)
|
rs575284775
|
0.00001
|
|
NM_017780.4(CHD7):c.8954A>G (p.Asp2985Gly)
|
rs1308226776
|
0.00001
|
|
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala)
|
rs374004489
|
0.00001
|
|
NM_017780.4(CHD7):c.89C>T (p.Pro30Leu)
|
rs768014298
|
0.00001
|
|
NM_017780.4(CHD7):c.910A>G (p.Ile304Val)
|
rs1274555136
|
0.00001
|
|
NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys)
|
rs1472626804
|
0.00001
|
|
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser)
|
rs777040556
|
0.00001
|
|
NM_017780.4(CHD7):c.988C>G (p.Gln330Glu)
|
rs1053945677
|
0.00001
|
|
NM_017780.4(CHD7):c.98C>G (p.Pro33Arg)
|
rs763572916
|
0.00001
|
|
NM_022455.5(NSD1):c.4487C>T (p.Pro1496Leu)
|
rs1766333203
|
0.00001
|
|
NM_022455.5(NSD1):c.7379A>G (p.Asp2460Gly)
|
rs1406542990
|
0.00001
|
|
NM_080647.1(TBX1):c.34+6C>T
|
rs1263773731
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1019+6G>C
|
rs749016701
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1020-8C>G
|
rs770213442
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1080G>A (p.Ala360=)
|
rs758102357
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1118+5G>A
|
rs773388284
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1157G>A (p.Arg386Gln)
|
rs766524768
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1194C>T (p.Phe398=)
|
rs755664296
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1226G>A (p.Arg409Gln)
|
rs748784250
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1300-10A>T
|
rs377666209
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1305A>G (p.Gln435=)
|
rs935776281
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1332T>C (p.Ala444=)
|
rs1230274577
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1413C>T (p.Thr471=)
|
rs1580262909
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1568+18T>G
|
rs772367889
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1568+7del
|
rs762253615
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1569-17G>A
|
rs780706346
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1569-18C>T
|
rs557466936
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1605C>A (p.Ile535=)
|
rs1747639846
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1653G>A (p.Lys551=)
|
rs775385667
|
0.00001
|
|
NM_181523.3(PIK3R1):c.168A>G (p.Leu56=)
|
rs972790556
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1785C>T (p.Asn595=)
|
rs760360348
|
0.00001
|
|
NM_181523.3(PIK3R1):c.1928A>T (p.Asp643Val)
|
rs1747710716
|
0.00001
|
|
NM_181523.3(PIK3R1):c.2046C>T (p.Ala682=)
|
rs779578323
|
0.00001
|
|
NM_181523.3(PIK3R1):c.2100C>T (p.His700=)
|
rs1438509498
|
0.00001
|
|
NM_181523.3(PIK3R1):c.2132A>G (p.Asn711Ser)
|
rs374119964
|
0.00001
|
|
NM_181523.3(PIK3R1):c.2139A>G (p.Thr713=)
|
rs1454328791
|
0.00001
|
|
NM_181523.3(PIK3R1):c.220G>A (p.Val74Ile)
|
rs755953968
|
0.00001
|
|
NM_181523.3(PIK3R1):c.291T>C (p.Val97=)
|
rs751812106
|
0.00001
|
|
NM_181523.3(PIK3R1):c.330A>G (p.Gln110=)
|
rs371843549
|
0.00001
|
|
NM_181523.3(PIK3R1):c.334+4A>G
|
rs1263122579
|
0.00001
|
|
NM_181523.3(PIK3R1):c.348G>A (p.Pro116=)
|
rs762006134
|
0.00001
|
|
NM_181523.3(PIK3R1):c.387G>A (p.Pro129=)
|
rs201402919
|
0.00001
|
|
NM_181523.3(PIK3R1):c.399C>G (p.Ile133Met)
|
rs752552706
|
0.00001
|
|
NM_181523.3(PIK3R1):c.427+4A>C
|
rs1380740486
|
0.00001
|
|
NM_181523.3(PIK3R1):c.445C>T (p.Leu149=)
|
rs767073354
|
0.00001
|
|
NM_181523.3(PIK3R1):c.450C>T (p.Tyr150=)
|
rs1339790364
|
0.00001
|
|
NM_181523.3(PIK3R1):c.484C>T (p.Arg162Ter)
|
rs1230037871
|
0.00001
|
|
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile)
|
rs778443805
|
0.00001
|
|
NM_181523.3(PIK3R1):c.540C>T (p.His180=)
|
rs529029580
|
0.00001
|
|
NM_181523.3(PIK3R1):c.553G>A (p.Ala185Thr)
|
rs765008592
|
0.00001
|
|
NM_181523.3(PIK3R1):c.567T>C (p.Tyr189=)
|
rs778360098
|
0.00001
|
|
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=)
|
rs533077843
|
0.00001
|
|
NM_181523.3(PIK3R1):c.572T>A (p.Leu191Gln)
|
rs1477562598
|
0.00001
|
|
NM_181523.3(PIK3R1):c.586C>T (p.Pro196Ser)
|
rs1418066079
|
0.00001
|
|
NM_181523.3(PIK3R1):c.609C>T (p.Tyr203=)
|
rs1331105445
|
0.00001
|
|
NM_181523.3(PIK3R1):c.616A>G (p.Met206Val)
|
rs773185995
|
0.00001
|
|
NM_181523.3(PIK3R1):c.634+11T>C
|
rs1287288917
|
0.00001
|
|
NM_181523.3(PIK3R1):c.635-11T>A
|
rs745306907
|
0.00001
|
|
NM_181523.3(PIK3R1):c.65T>C (p.Ile22Thr)
|
rs150689648
|
0.00001
|
|
NM_181523.3(PIK3R1):c.739T>C (p.Phe247Leu)
|
rs1486145236
|
0.00001
|
|
NM_181523.3(PIK3R1):c.747G>C (p.Lys249Asn)
|
rs147303522
|
0.00001
|
|
NM_181523.3(PIK3R1):c.752C>T (p.Ser251Phe)
|
rs1184502086
|
0.00001
|
|
NM_181523.3(PIK3R1):c.768A>G (p.Lys256=)
|
rs1746797017
|
0.00001
|
|
NM_181523.3(PIK3R1):c.837-11C>T
|
rs1226781279
|
0.00001
|
|
NM_181523.3(PIK3R1):c.869T>C (p.Ile290Thr)
|
rs759526958
|
0.00001
|
|
NM_181523.3(PIK3R1):c.960C>T (p.Asn320=)
|
rs201809898
|
0.00001
|
|
NM_181523.3(PIK3R1):c.9T>C (p.Ala3=)
|
rs1447146494
|
0.00001
|
|
NC_000001.10:g.(?_155581953)_(155880552_?)del
|
|
|
|
NC_000001.10:g.(?_155870159)_(155880696_?)dup
|
|
|
|
NC_000001.10:g.(?_155870179)_(155874615_?)dup
|
|
|
|
NC_000001.10:g.(?_155870179)_(155880552_?)dup
|
|
|
|
NC_000001.10:g.(?_155874092)_(155880686_?)dup
|
|
|
|
NC_000001.10:g.(?_155877093)_(155880300_?)del
|
|
|
|
NC_000001.10:g.(?_155880221)_(156109650_?)del
|
|
|
|
NC_000001.10:g.(?_209961765)_(209965792_?)del
|
|
|
|
NC_000001.10:g.(?_209974565)_(209974778_?)del
|
|
|
|
NC_000001.10:g.(?_209974565)_(209979435_?)del
|
|
|
|
NC_000001.11:g.209806184A>T
|
rs34743335
|
|
|
NC_000003.11:g.(?_180702428)_(181592675_?)del
|
|
|
|
NC_000003.12:g.(?_181712341)_(181874887_?)del
|
|
|
|
NC_000005.10:g.(?_177135094)_(177295469_?)del
|
|
|
|
NC_000005.10:g.(?_177235801)_(177239885_?)del
|
|
|
|
NC_000005.10:g.(?_177280545)_(177283948_?)del
|
|
|
|
NC_000005.10:g.(?_177288799)_(177288945_?)del
|
|
|
|
NC_000005.9:g.(?_175158654)_(179263593_?)dup
|
|
|
|
NC_000005.9:g.(?_176289625)_(177151363_?)del
|
|
|
|
NC_000005.9:g.(?_176618865)_(176619040_?)dup
|
|
|
|
NC_000005.9:g.(?_176618865)_(177036696_?)dup
|
|
|
|
NC_000005.9:g.(?_176631101)_(176631313_?)dup
|
|
|
|
NC_000005.9:g.(?_176638041)_(176722460_?)del
|
|
|
|
NC_000005.9:g.(?_176662802)_(176662966_?)dup
|
|
|
|
NC_000005.9:g.(?_176720813)_(176722460_?)del
|
|
|
|
NC_000006.11:g.(?_121401917)_(121769142_?)del
|
|
|
|
NC_000006.11:g.(?_121767974)_(121769162_?)dup
|
|
|
|
NC_000006.11:g.(?_57061071)_(57061424_?)del
|
|
|
|
NC_000006.11:g.(?_57075004)_(57075178_?)del
|
|
|
|
NC_000006.12:g.(?_57186982)_(57222324_?)del
|
|
|
|
NC_000007.13:g.(?_39726267)_(42262852_?)del
|
|
|
|
NC_000007.13:g.(?_42000470)_(42005117_?)del
|
|
|
|
NC_000007.13:g.(?_42017137)_(42079858_?)dup
|
|
|
|
NC_000007.13:g.(?_42063047)_(42066031_?)dup
|
|
|
|
NC_000007.13:g.(?_42088070)_(42088315_?)del
|
|
|
|
NC_000007.13:g.(?_42116331)_(42116476_?)dup
|
|
|
|
NC_000007.13:g.(?_42116331)_(42188087_?)del
|
|
|
|
NC_000007.13:g.(?_42187805)_(42262872_?)del
|
|
|
|
NC_000007.13:g.(?_42262709)_(42262852_?)dup
|
|
|
|
NC_000007.13:g.(?_81331897)_(84751207_?)dup
|
|
|
|
NC_000007.13:g.(?_82996902)_(82997374_?)dup
|
|
|
|
NC_000007.13:g.(?_83047686)_(83047819_?)dup
|
|
|
|
NC_000007.13:g.(?_83047686)_(83119610_?)dup
|
|
|
|
NC_000007.13:g.(?_83277724)_(83277858_?)del
|
|
|
|
NC_000007.13:g.(?_83277724)_(83614813_?)dup
|
|
|
|
NC_000007.14:g.(?_42048471)_(42148488_?)del
|
|
|
|
NC_000007.14:g.(?_83367566)_(83648562_?)del
|
|
|
|
NC_000008.10:g.(?_61121344)_(62626930_?)dup
|
|
|
|
NC_000008.10:g.(?_61653972)_(61655676_?)dup
|
|
|
|
NC_000008.10:g.(?_61653992)_(62626930_?)del
|
|
|
|
NC_000008.10:g.(?_61720756)_(61720851_?)del
|
|
|
|
NC_000008.10:g.(?_61777555)_(61778492_?)dup
|
|
|
|
NC_000008.11:g.(?_60741413)_(60856908_?)dup
|
|
|
|
NC_000008.11:g.(?_60741413)_(60865953_?)del
|
|
|
|
NC_000008.11:g.(?_60741413)_(60865953_?)dup
|
|
|
|
NC_000012.11:g.(?_114793337)_(115121005_?)dup
|
|
|
|
NC_000014.8:g.(?_50585062)_(50585591_?)del
|
|
|
|
NC_000014.8:g.(?_50596659)_(50606797_?)dup
|
|
|
|
NC_000014.8:g.(?_50626129)_(50628347_?)del
|
|
|
|
NC_000014.8:g.(?_50641152)_(50778868_?)dup
|
|
|
|
NC_000014.8:g.(?_50649161)_(50655438_?)dup
|
|
|
|
NC_000014.8:g.(?_50655195)_(50655438_?)dup
|
|
|
|
NC_000014.8:g.(?_50697895)_(51288774_?)dup
|
|
|
|
NC_000014.9:g.(?_50188487)_(50204419_?)dup
|
|
|
|
NC_000017.10:g.(?_68171181)_(70120528_?)del
|
|
|
|
NC_000017.11:g.72122720_72122736del
|
|
|
|
NC_000019.10:g.(?_13075535)_(13078735_?)del
|
|
|
|
NC_000019.10:g.(?_13087969)_(13094669_?)del
|
|
|
|
NC_000019.10:g.(?_42370701)_(42370831_?)del
|
|
|
|
NC_000019.9:g.(?_13106632)_(13428155_?)del
|
|
|
|
NC_000019.9:g.(?_13135448)_(13136386_?)dup
|
|
|
|
NC_000019.9:g.(?_13135448)_(13419362_?)dup
|
|
|
|
NC_000019.9:g.(?_13136156)_(13151380_?)del
|
|
|
|
NC_000019.9:g.(?_13186329)_(13189569_?)del
|
|
|
|
NC_000019.9:g.(?_13186329)_(13189569_?)dup
|
|
|
|
NC_000019.9:g.(?_39904727)_(42931301_?)dup
|
|
|
|
NC_000022.10:g.(?_18900668)_(19747220_?)del
|
|
|
|
NC_000022.10:g.(?_18900668)_(19770565_?)del
|
|
|
|
NC_000022.10:g.(?_18900668)_(19770565_?)dup
|
|
|
|
NC_000022.10:g.(?_18900688)_(21351637_?)del
|
|
|
|
NC_000022.10:g.(?_18900688)_(21351637_?)dup
|
|
|
|
NC_000022.10:g.(?_18910310)_(19770565_?)del
|
|
|
|
NC_000022.10:g.(?_18910310)_(19770565_?)dup
|
|
|
|
NC_000022.10:g.(?_19163623)_(19770565_?)del
|
|
|
|
NC_000022.10:g.(?_19743226)_(19755855_?)del
|
|
|
|
NC_000022.10:g.(?_19743226)_(19755855_?)dup
|
|
|
|
NC_000022.10:g.(?_19747167)_(19748823_?)dup
|
|
|
|
NC_000022.10:g.(?_19747167)_(19754390_?)del
|
|
|
|
NC_000022.10:g.(?_19748408)_(19748823_?)dup
|
|
|
|
NC_000022.10:g.(?_19748454)_19748649del
|
|
|
|
NC_000022.10:g.(?_19753261)_(19754390_?)del
|
|
|
|
NC_000022.11:g.(?_19722428)_(19975757_?)del
|
|
|
|
NC_000022.11:g.(?_19755901)_(19759687_?)del
|
|
|
|
NC_000022.11:g.(?_19755901)_(19766877_?)del
|
|
|
|
NC_000022.11:g.(?_19755901)_(19783042_?)del
|
|
|
|
NC_000022.11:g.(?_19755950)_(19759697_?)del
|
|
|
|
NC_000023.10:g.(?_76829695)_(77381327_?)dup
|
|
|
|
NC_000023.10:g.(?_76888675)_(77264780_?)dup
|
|
|
|
NC_000023.10:g.(?_76972588)_(77302067_?)del
|
|
|
|
NC_000023.10:g.(?_77150786)_(77289339_?)dup
|
|
|
|
NC_000023.10:g.(?_77227108)_(77227268_?)del
|
|
|
|
NC_000023.10:g.(?_77227108)_(77258743_?)del
|
|
|
|
NC_000023.10:g.(?_77227108)_(77305902_?)dup
|
|
|
|
NC_000023.10:g.(?_77227129)_(77302077_?)dup
|
|
|
|
NC_000023.10:g.(?_77227139)_(77271398_?)del
|
|
|
|
NC_000023.10:g.(?_77227139)_(77275915_?)dup
|
|
|
|
NC_000023.10:g.(?_77227139)_(77284961_?)dup
|
|
|
|
NC_000023.10:g.(?_77227139)_(77289339_?)del
|
|
|
|
NC_000023.10:g.(?_77227139)_(77381327_?)dup
|
|
|
|
NC_000023.10:g.(?_77243718)_(77245474_?)del
|
|
|
|
NC_000023.10:g.(?_77243738)_(77302067_?)dup
|
|
|
|
NC_000023.10:g.(?_77264579)_(77264780_?)dup
|
|
|
|
NC_000023.10:g.(?_77264579)_(77268629_?)del
|
|
|
|
NC_000023.10:g.(?_77264589)_(77264770_?)dup
|
|
|
|
NC_000023.10:g.(?_77264993)_(77268389_?)del
|
|
|
|
NC_000023.10:g.(?_77266653)_(77268629_?)dup
|
|
|
|
NC_000023.10:g.(?_77266653)_(77271398_?)dup
|
|
|
|
NC_000023.10:g.(?_77266653)_(77302067_?)dup
|
|
|
|
NC_000023.10:g.(?_77266663)_(77268619_?)dup
|
|
|
|
NC_000023.10:g.(?_77268356)_(77271398_?)del
|
|
|
|
NC_000023.10:g.(?_77270139)_(77271398_?)del
|
|
|
|
NC_000023.10:g.(?_77270149)_(77305902_?)dup
|
|
|
|
NC_000023.10:g.(?_77271231)_(77271398_?)del
|
|
|
|
NC_000023.10:g.(?_77275721)_(77279056_?)del
|
|
|
|
NC_000023.10:g.(?_77275721)_(77381327_?)dup
|
|
|
|
NC_000023.10:g.(?_77275731)_(77302067_?)dup
|
|
|
|
NC_000023.10:g.(?_77276422)_(77276596_?)del
|
|
|
|
NC_000023.10:g.(?_77284727)_(77302087_?)dup
|
|
|
|
NC_000023.10:g.(?_77289083)_(77301089_?)dup
|
|
|
|
NC_000023.10:g.(?_77298795)_(77302067_?)dup
|
|
|
|
NC_000023.10:g.(?_77300947)_(77302067_?)del
|
|
|
|
NC_000023.10:g.(?_77300947)_(77381327_?)dup
|
|
|
|
NM_000052.7(ATP7A):c.1003A>G (p.Ile335Val)
|
|
|
|
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met)
|
rs2149083240
|
|
|
NM_000052.7(ATP7A):c.1008G>A (p.Glu336=)
|
|
|
|
NM_000052.7(ATP7A):c.1017A>T (p.Ser339=)
|
|
|
|
NM_000052.7(ATP7A):c.1023G>A (p.Gly341=)
|
rs374656309
|
|
|
NM_000052.7(ATP7A):c.1029T>C (p.Tyr343=)
|
|
|
|
NM_000052.7(ATP7A):c.1032A>G (p.Arg344=)
|
|
|
|
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg)
|
rs2077658544
|
|
|
NM_000052.7(ATP7A):c.1050A>G (p.Glu350=)
|
|
|
|
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp)
|
|
|
|
NM_000052.7(ATP7A):c.105T>C (p.Gly35=)
|
|
|
|
NM_000052.7(ATP7A):c.1060A>G (p.Thr354Ala)
|
rs1557231859
|
|
|
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1062C>A (p.Thr354=)
|
|
|
|
NM_000052.7(ATP7A):c.1069T>C (p.Ser357Pro)
|
|
|
|
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe)
|
|
|
|
NM_000052.7(ATP7A):c.1074C>T (p.Pro358=)
|
rs2149083275
|
|
|
NM_000052.7(ATP7A):c.1080C>T (p.Ser360=)
|
|
|
|
NM_000052.7(ATP7A):c.1085C>A (p.Ser362Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.108G>A (p.Val36=)
|
rs2149073882
|
|
|
NM_000052.7(ATP7A):c.1108G>A (p.Val370Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala)
|
rs782616685
|
|
|
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys)
|
rs2077659011
|
|
|
NM_000052.7(ATP7A):c.1128A>G (p.Thr376=)
|
|
|
|
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr)
|
rs1603378831
|
|
|
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1146C>T (p.Asn382=)
|
rs2149083320
|
|
|
NM_000052.7(ATP7A):c.1147A>G (p.Ile383Val)
|
|
|
|
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1151A>G (p.Asp384Gly)
|
|
|
|
NM_000052.7(ATP7A):c.1154G>A (p.Gly385Asp)
|
|
|
|
NM_000052.7(ATP7A):c.1157T>G (p.Met386Arg)
|
rs2149083331
|
|
|
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro)
|
rs1569549600
|
|
|
NM_000052.7(ATP7A):c.1166A>G (p.Asn389Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1170C>T (p.Ser390=)
|
rs2149083338
|
|
|
NM_000052.7(ATP7A):c.1176G>A (p.Val392=)
|
rs2149083343
|
|
|
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu)
|
|
|
|
NM_000052.7(ATP7A):c.117T>A (p.Ile39=)
|
|
|
|
NM_000052.7(ATP7A):c.1182T>C (p.Ser394=)
|
rs2149083355
|
|
|
NM_000052.7(ATP7A):c.1183A>G (p.Ile395Val)
|
|
|
|
NM_000052.7(ATP7A):c.1184T>C (p.Ile395Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1191T>A (p.Gly397=)
|
rs2149083372
|
|
|
NM_000052.7(ATP7A):c.120+14T>C
|
|
|
|
NM_000052.7(ATP7A):c.120+15G>A
|
|
|
|
NM_000052.7(ATP7A):c.120+20C>T
|
|
|
|
NM_000052.7(ATP7A):c.120+7T>C
|
rs2149073895
|
|
|
NM_000052.7(ATP7A):c.120+8A>T
|
|
|
|
NM_000052.7(ATP7A):c.120+9C>T
|
|
|
|
NM_000052.7(ATP7A):c.1200A>G (p.Ser400=)
|
|
|
|
NM_000052.7(ATP7A):c.1202A>G (p.Lys401Arg)
|
|
|
|
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser)
|
|
|
|
NM_000052.7(ATP7A):c.120G>A (p.Lys40=)
|
|
|
|
NM_000052.7(ATP7A):c.121-12T>G
|
|
|
|
NM_000052.7(ATP7A):c.121-14T>G
|
|
|
|
NM_000052.7(ATP7A):c.121-2del
|
rs1287511385
|
|
|
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val)
|
|
|
|
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe)
|
|
|
|
NM_000052.7(ATP7A):c.1221C>T (p.Ser407=)
|
|
|
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
|
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val)
|
|
|
|
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1251G>T (p.Gly417=)
|
rs781846400
|
|
|
NM_000052.7(ATP7A):c.1253C>T (p.Thr418Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1256T>C (p.Val419Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1257T>G (p.Val419=)
|
|
|
|
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1266T>A (p.Asp422Glu)
|
|
|
|
NM_000052.7(ATP7A):c.126A>G (p.Ser42=)
|
rs2149082519
|
|
|
NM_000052.7(ATP7A):c.1273del (p.Leu424_Leu425insTer)
|
rs2077660153
|
|
|
NM_000052.7(ATP7A):c.127C>T (p.Leu43=)
|
|
|
|
NM_000052.7(ATP7A):c.1285G>T (p.Glu429Ter)
|
|
|
|
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg)
|
|
|
|
NM_000052.7(ATP7A):c.1302A>G (p.Ala434=)
|
|
|
|
NM_000052.7(ATP7A):c.1303A>G (p.Ile435Val)
|
|
|
|
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln)
|
|
|
|
NM_000052.7(ATP7A):c.1326T>C (p.Ala442=)
|
rs2149083467
|
|
|
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu)
|
rs2149083480
|
|
|
NM_000052.7(ATP7A):c.1336+10A>C
|
|
|
|
NM_000052.7(ATP7A):c.1336+10A>G
|
|
|
|
NM_000052.7(ATP7A):c.1336+3A>G
|
|
|
|
NM_000052.7(ATP7A):c.1336+7dup
|
|
|
|
NM_000052.7(ATP7A):c.1336+9C>A
|
|
|
|
NM_000052.7(ATP7A):c.1337-16T>A
|
|
|
|
NM_000052.7(ATP7A):c.1337-17C>G
|
|
|
|
NM_000052.7(ATP7A):c.1340C>T (p.Thr447Met)
|
|
|
|
NM_000052.7(ATP7A):c.1344T>C (p.Asn448=)
|
rs2149087769
|
|
|
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1349C>T (p.Pro450Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
|
|
|
|
NM_000052.7(ATP7A):c.1350G>T (p.Pro450=)
|
rs782421584
|
|
|
NM_000052.7(ATP7A):c.1358_1363del (p.Val453_Ile454del)
|
|
|
|
NM_000052.7(ATP7A):c.1361T>G (p.Ile454Arg)
|
|
|
|
NM_000052.7(ATP7A):c.1364C>T (p.Ala455Val)
|
|
|
|
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
|
|
|
|
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu)
|
rs1603381269
|
|
|
NM_000052.7(ATP7A):c.1374A>G (p.Ser458=)
|
rs2077718812
|
|
|
NM_000052.7(ATP7A):c.1376C>A (p.Ser459Ter)
|
|
|
|
NM_000052.7(ATP7A):c.1395T>A (p.Thr465=)
|
|
|
|
NM_000052.7(ATP7A):c.1400C>A (p.Thr467Asn)
|
|
|
|
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1400C>T (p.Thr467Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His)
|
|
|
|
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala)
|
rs2149087825
|
|
|
NM_000052.7(ATP7A):c.1416T>C (p.Thr472=)
|
rs2149087828
|
|
|
NM_000052.7(ATP7A):c.1419A>G (p.Lys473=)
|
|
|
|
NM_000052.7(ATP7A):c.1422G>A (p.Gly474=)
|
|
|
|
NM_000052.7(ATP7A):c.1431A>G (p.Pro477=)
|
rs2077719509
|
|
|
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly)
|
|
|
|
NM_000052.7(ATP7A):c.1443G>A (p.Lys481=)
|
|
|
|
NM_000052.7(ATP7A):c.1461A>C (p.Ser487=)
|
rs2149087866
|
|
|
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
|
|
|
|
NM_000052.7(ATP7A):c.1464T>C (p.Ser488=)
|
|
|
|
NM_000052.7(ATP7A):c.1473C>T (p.Tyr491=)
|
|
|
|
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg)
|
rs2077719880
|
|
|
NM_000052.7(ATP7A):c.147T>C (p.Thr49=)
|
|
|
|
NM_000052.7(ATP7A):c.1486G>A (p.Gly496Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1493C>G (p.Thr498Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr)
|
rs2149087885
|
|
|
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1500T>A (p.Ala500=)
|
|
|
|
NM_000052.7(ATP7A):c.1500T>G (p.Ala500=)
|
|
|
|
NM_000052.7(ATP7A):c.1504T>C (p.Cys502Arg)
|
|
|
|
NM_000052.7(ATP7A):c.1506T>C (p.Cys502=)
|
rs2149087893
|
|
|
NM_000052.7(ATP7A):c.150T>A (p.Ile50=)
|
rs2149082532
|
|
|
NM_000052.7(ATP7A):c.1523G>A (p.Arg508Gln)
|
|
|
|
NM_000052.7(ATP7A):c.1524G>A (p.Arg508=)
|
|
|
|
NM_000052.7(ATP7A):c.152T>C (p.Ile51Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp)
|
rs1030215501
|
|
|
NM_000052.7(ATP7A):c.1536G>T (p.Arg512=)
|
rs1557232820
|
|
|
NM_000052.7(ATP7A):c.1537G>T (p.Glu513Ter)
|
rs1569549699
|
|
|
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1543+15A>G
|
|
|
|
NM_000052.7(ATP7A):c.1543+17G>A
|
rs2149087916
|
|
|
NM_000052.7(ATP7A):c.1543+18C>T
|
|
|
|
NM_000052.7(ATP7A):c.1543+8A>C
|
|
|
|
NM_000052.7(ATP7A):c.1544-16T>G
|
|
|
|
NM_000052.7(ATP7A):c.1544-1G>A
|
rs797045331
|
|
|
NM_000052.7(ATP7A):c.1544-2A>T
|
rs2077751404
|
|
|
NM_000052.7(ATP7A):c.1544-7C>T
|
rs2149090207
|
|
|
NM_000052.7(ATP7A):c.1555A>G (p.Ile519Val)
|
|
|
|
NM_000052.7(ATP7A):c.1562T>C (p.Val521Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1562T>G (p.Val521Gly)
|
|
|
|
NM_000052.7(ATP7A):c.1566C>T (p.Ala522=)
|
rs2149090230
|
|
|
NM_000052.7(ATP7A):c.156T>C (p.Tyr52=)
|
|
|
|
NM_000052.7(ATP7A):c.1581G>A (p.Lys527=)
|
rs2149090234
|
|
|
NM_000052.7(ATP7A):c.1585G>A (p.Glu529Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1592G>A (p.Arg531Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met)
|
rs782048861
|
|
|
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp)
|
rs1057524455
|
|
|
NM_000052.7(ATP7A):c.159C>T (p.Asp53=)
|
rs2149082542
|
|
|
NM_000052.7(ATP7A):c.1602T>G (p.Pro534=)
|
|
|
|
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1610T>C (p.Ile537Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met)
|
|
|
|
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val)
|
rs1557233382
|
|
|
NM_000052.7(ATP7A):c.1629A>G (p.Ala543=)
|
|
|
|
NM_000052.7(ATP7A):c.1638C>A (p.Ile546=)
|
|
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
|
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val)
|
|
|
|
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg)
|
|
|
|
NM_000052.7(ATP7A):c.1659C>T (p.Ala553=)
|
|
|
|
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn)
|
|
|
|
NM_000052.7(ATP7A):c.1662T>G (p.Thr554=)
|
rs2149090265
|
|
|
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1669G>C (p.Glu557Gln)
|
|
|
|
NM_000052.7(ATP7A):c.166C>T (p.Leu56=)
|
rs2149082544
|
|
|
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1675G>A (p.Ala559Thr)
|
rs1603383823
|
|
|
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln)
|
rs2077752247
|
|
|
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp)
|
|
|
|
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg)
|
|
|
|
NM_000052.7(ATP7A):c.1688A>T (p.Asp563Val)
|
rs782561107
|
|
|
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1695T>C (p.Val565=)
|
rs2149090293
|
|
|
NM_000052.7(ATP7A):c.169C>T (p.Gln57Ter)
|
|
|
|
NM_000052.7(ATP7A):c.1701A>G (p.Glu567=)
|
rs2149090295
|
|
|
NM_000052.7(ATP7A):c.1707+12T>G
|
|
|
|
NM_000052.7(ATP7A):c.1707+16del
|
|
|
|
NM_000052.7(ATP7A):c.1707+17G>A
|
|
|
|
NM_000052.7(ATP7A):c.1707+19G>A
|
|
|
|
NM_000052.7(ATP7A):c.1707+9G>C
|
rs2149090300
|
|
|
NM_000052.7(ATP7A):c.1708-16G>A
|
|
|
|
NM_000052.7(ATP7A):c.1708-19A>G
|
|
|
|
NM_000052.7(ATP7A):c.1708-4dup
|
|
|
|
NM_000052.7(ATP7A):c.1708-5A>C
|
rs782104249
|
|
|
NM_000052.7(ATP7A):c.1708-5A>G
|
|
|
|
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1719G>A (p.Met573Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg)
|
rs782076879
|
|
|
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe)
|
rs2149093499
|
|
|
NM_000052.7(ATP7A):c.1731C>T (p.Ser577=)
|
rs2149093501
|
|
|
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile)
|
rs372116692
|
|
|
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1748A>G (p.Glu583Gly)
|
|
|
|
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly)
|
rs2077799245
|
|
|
NM_000052.7(ATP7A):c.1754G>C (p.Ser585Thr)
|
|
|
|
NM_000052.7(ATP7A):c.1755T>C (p.Ser585=)
|
|
|
|
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1761A>G (p.Thr587=)
|
|
|
|
NM_000052.7(ATP7A):c.1764A>G (p.Lys588=)
|
|
|
|
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln)
|
rs1603384813
|
|
|
NM_000052.7(ATP7A):c.1767C>T (p.His589=)
|
|
|
|
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
|
|
|
|
NM_000052.7(ATP7A):c.1773G>C (p.Gly591=)
|
rs2149093521
|
|
|
NM_000052.7(ATP7A):c.1776C>G (p.Ile592Met)
|
|
|
|
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val)
|
rs2149093524
|
|
|
NM_000052.7(ATP7A):c.1779A>G (p.Leu593=)
|
rs1557234093
|
|
|
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His)
|
|
|
|
NM_000052.7(ATP7A):c.1782C>T (p.Tyr594=)
|
|
|
|
NM_000052.7(ATP7A):c.1788C>A (p.Ser596=)
|
rs368747913
|
|
|
NM_000052.7(ATP7A):c.1788C>T (p.Ser596=)
|
rs368747913
|
|
|
NM_000052.7(ATP7A):c.1793C>T (p.Ala598Val)
|
rs782386693
|
|
|
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val)
|
rs2149093539
|
|
|
NM_000052.7(ATP7A):c.1797G>A (p.Leu599=)
|
|
|
|
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp)
|
rs2077547692
|
|
|
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1803C>A (p.Thr601=)
|
|
|
|
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys)
|
|
|
|
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg)
|
|
|
|
NM_000052.7(ATP7A):c.180G>A (p.Lys60=)
|
|
|
|
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr)
|
rs2149093552
|
|
|
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg)
|
rs1020034878
|
|
|
NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1843C>G (p.Pro615Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
|
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
|
|
|
|
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val)
|
rs1399879043
|
|
|
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln)
|
|
|
|
NM_000052.7(ATP7A):c.1869+12G>T
|
|
|
|
NM_000052.7(ATP7A):c.1869+17del
|
|
|
|
NM_000052.7(ATP7A):c.1869+3A>T
|
|
|
|
NM_000052.7(ATP7A):c.1869+4A>G
|
|
|
|
NM_000052.7(ATP7A):c.1869+7G>A
|
rs2149093596
|
|
|
NM_000052.7(ATP7A):c.1869+7G>T
|
rs2149093596
|
|
|
NM_000052.7(ATP7A):c.1869+9C>G
|
rs2149093599
|
|
|
NM_000052.7(ATP7A):c.186A>G (p.Leu62=)
|
rs2149082562
|
|
|
NM_000052.7(ATP7A):c.1870-14A>G
|
|
|
|
NM_000052.7(ATP7A):c.1870-18T>C
|
|
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
|
NM_000052.7(ATP7A):c.1870-7T>G
|
|
|
|
NM_000052.7(ATP7A):c.1873T>C (p.Leu625=)
|
rs2149094927
|
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
|
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
|
|
|
|
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser)
|
rs876661241
|
|
|
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile)
|
|
|
|
NM_000052.7(ATP7A):c.1896C>G (p.Val632=)
|
rs2149094955
|
|
|
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu)
|
rs2149094957
|
|
|
NM_000052.7(ATP7A):c.1899G>A (p.Lys633=)
|
|
|
|
NM_000052.7(ATP7A):c.189G>A (p.Gln63=)
|
|
|
|
NM_000052.7(ATP7A):c.1904A>C (p.Asp635Ala)
|
|
|
|
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu)
|
|
|
|
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp)
|
rs1057523112
|
|
|
NM_000052.7(ATP7A):c.1908G>A (p.Arg636=)
|
|
|
|
NM_000052.7(ATP7A):c.1908G>T (p.Arg636=)
|
|
|
|
NM_000052.7(ATP7A):c.1915A>G (p.Ser639Gly)
|
|
|
|
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn)
|
|
|
|
NM_000052.7(ATP7A):c.1920C>T (p.His640=)
|
rs2149094980
|
|
|
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn)
|
|
|
|
NM_000052.7(ATP7A):c.1924G>T (p.Asp642Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.1926T>A (p.Asp642Glu)
|
|
|
|
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg)
|
rs781900997
|
|
|
NM_000052.7(ATP7A):c.1932A>G (p.Lys644=)
|
|
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
|
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala)
|
rs2077822914
|
|
|
NM_000052.7(ATP7A):c.1945C>T (p.Gln649Ter)
|
|
|
|
NM_000052.7(ATP7A):c.1945_1946+2dup
|
rs2077822992
|
|
|
NM_000052.7(ATP7A):c.1946+10T>G
|
rs2149095008
|
|
|
NM_000052.7(ATP7A):c.1946+12G>A
|
|
|
|
NM_000052.7(ATP7A):c.1946+12G>C
|
|
|
|
NM_000052.7(ATP7A):c.1946+15G>C
|
|
|
|
NM_000052.7(ATP7A):c.1946+16T>G
|
|
|
|
NM_000052.7(ATP7A):c.1947-15T>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-16A>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-16_1947-14del
|
rs2077824641
|
|
|
NM_000052.7(ATP7A):c.1947-16del
|
rs2149095131
|
|
|
NM_000052.7(ATP7A):c.1947-17T>A
|
|
|
|
NM_000052.7(ATP7A):c.1947-18T>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-19T>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-7A>C
|
|
|
|
NM_000052.7(ATP7A):c.1947-9C>T
|
rs2077824790
|
|
|
NM_000052.7(ATP7A):c.1950G>C (p.Trp650Cys)
|
|
|
|
NM_000052.7(ATP7A):c.1956G>A (p.Arg652=)
|
rs2077825077
|
|
|
NM_000052.7(ATP7A):c.1966G>C (p.Val656Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val)
|
|
|
|
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe)
|
|
|
|
NM_000052.7(ATP7A):c.1987C>T (p.Pro663Ser)
|
|
|
|
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1990G>C (p.Val664Leu)
|
|
|
|
NM_000052.7(ATP7A):c.1992A>G (p.Val664=)
|
|
|
|
NM_000052.7(ATP7A):c.19G>A (p.Val7Met)
|
|
|
|
NM_000052.7(ATP7A):c.1A>C (p.Met1Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2001G>A (p.Leu667=)
|
rs2077825500
|
|
|
NM_000052.7(ATP7A):c.2001G>C (p.Leu667=)
|
rs2077825500
|
|
|
NM_000052.7(ATP7A):c.2010T>C (p.Tyr670=)
|
rs2149095200
|
|
|
NM_000052.7(ATP7A):c.2013G>A (p.Met671Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2013G>C (p.Met671Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2013G>T (p.Met671Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle)
|
rs1569549885
|
|
|
NM_000052.7(ATP7A):c.2028C>T (p.His676=)
|
rs2149095212
|
|
|
NM_000052.7(ATP7A):c.2030A>G (p.His677Arg)
|
|
|
|
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys)
|
|
|
|
NM_000052.7(ATP7A):c.2040T>C (p.Thr680=)
|
rs2077825942
|
|
|
NM_000052.7(ATP7A):c.2042T>C (p.Leu681Pro)
|
|
|
|
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
|
|
|
|
NM_000052.7(ATP7A):c.2052T>C (p.Asn684=)
|
|
|
|
NM_000052.7(ATP7A):c.2053C>T (p.Gln685Ter)
|
|
|
|
NM_000052.7(ATP7A):c.2059A>C (p.Met687Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2064T>C (p.Ser688=)
|
rs2149095237
|
|
|
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
|
|
|
|
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del)
|
|
|
|
NM_000052.7(ATP7A):c.208G>C (p.Gly70Arg)
|
|
|
|
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys)
|
|
|
|
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe)
|
rs2077826335
|
|
|
NM_000052.7(ATP7A):c.2094T>C (p.Ser698=)
|
rs2077826356
|
|
|
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys)
|
rs2149095258
|
|
|
NM_000052.7(ATP7A):c.2101C>T (p.Leu701=)
|
|
|
|
NM_000052.7(ATP7A):c.210C>T (p.Gly70=)
|
|
|
|
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His)
|
|
|
|
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His)
|
|
|
|
NM_000052.7(ATP7A):c.2127G>A (p.Leu709=)
|
|
|
|
NM_000052.7(ATP7A):c.2142G>C (p.Leu714Phe)
|
|
|
|
NM_000052.7(ATP7A):c.2143C>T (p.Leu715=)
|
rs2077826844
|
|
|
NM_000052.7(ATP7A):c.2145G>A (p.Leu715=)
|
rs2149095287
|
|
|
NM_000052.7(ATP7A):c.2149T>C (p.Phe717Leu)
|
rs1557234537
|
|
|
NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr)
|
rs2077650482
|
|
|
NM_000052.7(ATP7A):c.2154A>G (p.Leu718=)
|
|
|
|
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly)
|
rs1569549892
|
|
|
NM_000052.7(ATP7A):c.2160T>C (p.Cys720=)
|
rs797045346
|
|
|
NM_000052.7(ATP7A):c.2166T>A (p.Pro722=)
|
|
|
|
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu)
|
|
|
|
NM_000052.7(ATP7A):c.216T>C (p.Asp72=)
|
|
|
|
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu)
|
|
|
|
NM_000052.7(ATP7A):c.2172+12G>C
|
rs1557234548
|
|
|
NM_000052.7(ATP7A):c.2172+13T>C
|
|
|
|
NM_000052.7(ATP7A):c.2172+2C>T
|
rs2077827112
|
|
|
NM_000052.7(ATP7A):c.2172+5G>A
|
rs797045347
|
|
|
NM_000052.7(ATP7A):c.2172+5G>C
|
rs797045347
|
|
|
NM_000052.7(ATP7A):c.2172+8A>C
|
rs2149095311
|
|
|
NM_000052.7(ATP7A):c.2172+8_2172+12dup
|
rs782170618
|
|
|
NM_000052.7(ATP7A):c.2173-15A>G
|
|
|
|
NM_000052.7(ATP7A):c.2173-15A>T
|
|
|
|
NM_000052.7(ATP7A):c.2173-4G>T
|
|
|
|
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
|
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg)
|
rs2077837052
|
|
|
NM_000052.7(ATP7A):c.2186G>A (p.Trp729Ter)
|
rs2149095968
|
|
|
NM_000052.7(ATP7A):c.2193C>T (p.Phe731=)
|
|
|
|
NM_000052.7(ATP7A):c.2196C>T (p.Tyr732=)
|
|
|
|
NM_000052.7(ATP7A):c.2197A>G (p.Ile733Val)
|
|
|
|
NM_000052.7(ATP7A):c.21G>C (p.Val7=)
|
rs2149073808
|
|
|
NM_000052.7(ATP7A):c.2200C>A (p.Gln734Lys)
|
|
|
|
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His)
|
rs2149095977
|
|
|
NM_000052.7(ATP7A):c.2205T>A (p.Ala735=)
|
|
|
|
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe)
|
rs1569549929
|
|
|
NM_000052.7(ATP7A):c.2208T>C (p.Tyr736=)
|
rs1557234725
|
|
|
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2214A>G (p.Ala738=)
|
|
|
|
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg)
|
rs2077837209
|
|
|
NM_000052.7(ATP7A):c.222T>C (p.Val74=)
|
|
|
|
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2242G>A (p.Val748Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2244A>G (p.Val748=)
|
rs2149095993
|
|
|
NM_000052.7(ATP7A):c.2247G>A (p.Leu749=)
|
|
|
|
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
|
|
|
|
NM_000052.7(ATP7A):c.2253G>T (p.Val751=)
|
|
|
|
NM_000052.7(ATP7A):c.2262C>T (p.Thr754=)
|
|
|
|
NM_000052.7(ATP7A):c.2265C>T (p.Thr755=)
|
rs2149096003
|
|
|
NM_000052.7(ATP7A):c.2267T>C (p.Ile756Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2267T>G (p.Ile756Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2277C>T (p.Ala759=)
|
rs1473914623
|
|
|
NM_000052.7(ATP7A):c.2304A>G (p.Ala768=)
|
|
|
|
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
|
|
|
|
NM_000052.7(ATP7A):c.2319C>A (p.Ala773=)
|
rs2149096036
|
|
|
NM_000052.7(ATP7A):c.2322A>G (p.Lys774=)
|
rs2149096038
|
|
|
NM_000052.7(ATP7A):c.2337T>A (p.Thr779=)
|
|
|
|
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu)
|
rs2077838145
|
|
|
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2346C>T (p.Asp782=)
|
|
|
|
NM_000052.7(ATP7A):c.2349A>G (p.Thr783=)
|
|
|
|
NM_000052.7(ATP7A):c.2352C>T (p.Pro784=)
|
|
|
|
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr)
|
rs1057523512
|
|
|
NM_000052.7(ATP7A):c.2355T>A (p.Pro785=)
|
|
|
|
NM_000052.7(ATP7A):c.2359C>T (p.Leu787=)
|
rs2149096056
|
|
|
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
|
|
|
|
NM_000052.7(ATP7A):c.2361G>A (p.Leu787=)
|
rs2149096057
|
|
|
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu)
|
rs781834675
|
|
|
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2371A>G (p.Ile791Val)
|
|
|
|
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met)
|
rs2077838404
|
|
|
NM_000052.7(ATP7A):c.2376A>G (p.Ala792=)
|
|
|
|
NM_000052.7(ATP7A):c.2376A>T (p.Ala792=)
|
rs1208805004
|
|
|
NM_000052.7(ATP7A):c.237C>T (p.Asp79=)
|
|
|
|
NM_000052.7(ATP7A):c.2391G>A (p.Leu797=)
|
rs1603385697
|
|
|
NM_000052.7(ATP7A):c.2401G>A (p.Ala801Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu)
|
|
|
|
NM_000052.7(ATP7A):c.2406+12A>C
|
|
|
|
NM_000052.7(ATP7A):c.2406+14G>A
|
|
|
|
NM_000052.7(ATP7A):c.2406+14G>T
|
|
|
|
NM_000052.7(ATP7A):c.2406+16G>A
|
|
|
|
NM_000052.7(ATP7A):c.2406+16G>T
|
|
|
|
NM_000052.7(ATP7A):c.2406+16_2406+18del
|
rs782017566
|
|
|
NM_000052.7(ATP7A):c.2406+19A>T
|
|
|
|
NM_000052.7(ATP7A):c.2406+20C>T
|
|
|
|
NM_000052.7(ATP7A):c.2406+6G>A
|
rs782307719
|
|
|
NM_000052.7(ATP7A):c.2407-10del
|
|
|
|
NM_000052.7(ATP7A):c.2407-19T>A
|
|
|
|
NM_000052.7(ATP7A):c.2407-19TGTT[3]
|
|
|
|
NM_000052.7(ATP7A):c.2407-4A>G
|
rs2149096806
|
|
|
NM_000052.7(ATP7A):c.2407-4A>T
|
rs2149096806
|
|
|
NM_000052.7(ATP7A):c.2407G>A (p.Gly803Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2415A>C (p.Thr805=)
|
|
|
|
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu)
|
|
|
|
NM_000052.7(ATP7A):c.2433G>A (p.Lys811=)
|
|
|
|
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2445A>G (p.Leu815=)
|
rs782694822
|
|
|
NM_000052.7(ATP7A):c.2446del (p.Gln816fs)
|
|
|
|
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val)
|
rs781879594
|
|
|
NM_000052.7(ATP7A):c.2453C>T (p.Thr818Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2454A>C (p.Thr818=)
|
rs2149096833
|
|
|
NM_000052.7(ATP7A):c.2454A>G (p.Thr818=)
|
|
|
|
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro)
|
rs1557234938
|
|
|
NM_000052.7(ATP7A):c.2460A>C (p.Ala820=)
|
|
|
|
NM_000052.7(ATP7A):c.2460A>T (p.Ala820=)
|
rs2149096836
|
|
|
NM_000052.7(ATP7A):c.2463T>C (p.Thr821=)
|
rs2149096842
|
|
|
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
|
|
|
|
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr)
|
rs782768766
|
|
|
NM_000052.7(ATP7A):c.2467G>C (p.Val823Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2467del (p.Ile822_Val823insTer)
|
rs1569549974
|
|
|
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2472T>G (p.Thr824=)
|
|
|
|
NM_000052.7(ATP7A):c.2473C>G (p.Leu825Val)
|
|
|
|
NM_000052.7(ATP7A):c.2473C>T (p.Leu825Phe)
|
|
|
|
NM_000052.7(ATP7A):c.2486A>G (p.Asn829Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2488A>G (p.Ile830Val)
|
|
|
|
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe)
|
|
|
|
NM_000052.7(ATP7A):c.2492T>A (p.Leu831His)
|
|
|
|
NM_000052.7(ATP7A):c.2498+16C>G
|
|
|
|
NM_000052.7(ATP7A):c.2498+18T>C
|
|
|
|
NM_000052.7(ATP7A):c.2498+2T>G
|
rs797045357
|
|
|
NM_000052.7(ATP7A):c.2498+3A>T
|
rs1603386005
|
|
|
NM_000052.7(ATP7A):c.2499-10T>C
|
rs2149097330
|
|
|
NM_000052.7(ATP7A):c.2499-11C>A
|
|
|
|
NM_000052.7(ATP7A):c.2499-12A>T
|
rs2149097328
|
|
|
NM_000052.7(ATP7A):c.2499-17T>C
|
|
|
|
NM_000052.7(ATP7A):c.2499-18A>G
|
|
|
|
NM_000052.7(ATP7A):c.2499-20T>C
|
|
|
|
NM_000052.7(ATP7A):c.2499-3C>T
|
rs2077858280
|
|
|
NM_000052.7(ATP7A):c.2499-7T>A
|
|
|
|
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly)
|
rs1603386154
|
|
|
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe)
|
|
|
|
NM_000052.7(ATP7A):c.2526A>G (p.Val842=)
|
|
|
|
NM_000052.7(ATP7A):c.2528A>G (p.Gln843Arg)
|
|
|
|
NM_000052.7(ATP7A):c.2536G>A (p.Asp846Asn)
|
|
|
|
NM_000052.7(ATP7A):c.2538T>C (p.Asp846=)
|
|
|
|
NM_000052.7(ATP7A):c.2540T>C (p.Ile847Thr)
|
rs2149097365
|
|
|
NM_000052.7(ATP7A):c.2559A>C (p.Gly853=)
|
|
|
|
NM_000052.7(ATP7A):c.2574G>A (p.Val858=)
|
|
|
|
NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly)
|
rs2149082599
|
|
|
NM_000052.7(ATP7A):c.2580T>A (p.Gly860=)
|
rs2149097387
|
|
|
NM_000052.7(ATP7A):c.2586T>G (p.Val862=)
|
rs2149097395
|
|
|
NM_000052.7(ATP7A):c.2588T>C (p.Ile863Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2596C>T (p.His866Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr)
|
rs2149097408
|
|
|
NM_000052.7(ATP7A):c.260C>T (p.Thr87Ile)
|
rs782769542
|
|
|
NM_000052.7(ATP7A):c.261C>G (p.Thr87=)
|
rs2149082604
|
|
|
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg)
|
|
|
|
NM_000052.7(ATP7A):c.2626+11T>C
|
|
|
|
NM_000052.7(ATP7A):c.2626+11T>G
|
rs2077859760
|
|
|
NM_000052.7(ATP7A):c.2626+12C>G
|
|
|
|
NM_000052.7(ATP7A):c.2626+13A>G
|
|
|
|
NM_000052.7(ATP7A):c.2626+16G>A
|
rs2149097436
|
|
|
NM_000052.7(ATP7A):c.2626+16G>C
|
|
|
|
NM_000052.7(ATP7A):c.2626+17G>C
|
|
|
|
NM_000052.7(ATP7A):c.2626+18A>G
|
|
|
|
NM_000052.7(ATP7A):c.2626+19T>G
|
|
|
|
NM_000052.7(ATP7A):c.2626+5G>T
|
rs2149097418
|
|
|
NM_000052.7(ATP7A):c.2626+8C>T
|
rs2149097424
|
|
|
NM_000052.7(ATP7A):c.2627-12C>T
|
|
|
|
NM_000052.7(ATP7A):c.2627-13A>T
|
|
|
|
NM_000052.7(ATP7A):c.2627-16T>G
|
|
|
|
NM_000052.7(ATP7A):c.2627-19A>G
|
|
|
|
NM_000052.7(ATP7A):c.2627-19A>T
|
|
|
|
NM_000052.7(ATP7A):c.2627-7C>T
|
rs1603386991
|
|
|
NM_000052.7(ATP7A):c.2627-8C>G
|
|
|
|
NM_000052.7(ATP7A):c.2628G>A (p.Gly876=)
|
|
|
|
NM_000052.7(ATP7A):c.2632G>A (p.Ala878Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu)
|
|
|
|
NM_000052.7(ATP7A):c.2637G>T (p.Met879Ile)
|
|
|
|
NM_000052.7(ATP7A):c.2646T>G (p.Ala882=)
|
|
|
|
NM_000052.7(ATP7A):c.2650A>G (p.Lys884Glu)
|
|
|
|
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His)
|
|
|
|
NM_000052.7(ATP7A):c.2655T>C (p.Pro885=)
|
rs781976106
|
|
|
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
|
|
|
|
NM_000052.7(ATP7A):c.2661C>T (p.Ser887=)
|
rs2149099638
|
|
|
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro)
|
|
|
|
NM_000052.7(ATP7A):c.2663del (p.Thr888fs)
|
rs2077896094
|
|
|
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala)
|
|
|
|
NM_000052.7(ATP7A):c.2679C>G (p.Ser893=)
|
|
|
|
NM_000052.7(ATP7A):c.2694G>A (p.Gly898=)
|
rs2149099672
|
|
|
NM_000052.7(ATP7A):c.2698C>T (p.Leu900=)
|
rs2149099676
|
|
|
NM_000052.7(ATP7A):c.2704A>G (p.Ile902Val)
|
|
|
|
NM_000052.7(ATP7A):c.2712A>T (p.Ala904=)
|
rs1396353749
|
|
|
NM_000052.7(ATP7A):c.2715A>T (p.Thr905=)
|
rs1193758510
|
|
|
NM_000052.7(ATP7A):c.2716C>T (p.His906Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.2734A>G (p.Thr912Ala)
|
|
|
|
NM_000052.7(ATP7A):c.2736C>A (p.Thr912=)
|
rs2149099708
|
|
|
NM_000052.7(ATP7A):c.2747T>C (p.Ile916Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys)
|
|
|
|
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln)
|
rs2149099719
|
|
|
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2773_2781+4del
|
|
|
|
NM_000052.7(ATP7A):c.2775A>G (p.Thr925=)
|
rs1603387045
|
|
|
NM_000052.7(ATP7A):c.2781+14C>T
|
|
|
|
NM_000052.7(ATP7A):c.2781+17G>C
|
|
|
|
NM_000052.7(ATP7A):c.2781+5C>T
|
|
|
|
NM_000052.7(ATP7A):c.2781+8A>T
|
rs2149099742
|
|
|
NM_000052.7(ATP7A):c.2781_2781+1delinsTT
|
|
|
|
NM_000052.7(ATP7A):c.2782-11T>C
|
|
|
|
NM_000052.7(ATP7A):c.2782-13T>C
|
|
|
|
NM_000052.7(ATP7A):c.2782-14A>G
|
|
|
|
NM_000052.7(ATP7A):c.2782-14del
|
|
|
|
NM_000052.7(ATP7A):c.2782-17_2782-15del
|
|
|
|
NM_000052.7(ATP7A):c.2782-4C>T
|
|
|
|
NM_000052.7(ATP7A):c.2782-6T>C
|
|
|
|
NM_000052.7(ATP7A):c.2782-8A>C
|
rs2149100096
|
|
|
NM_000052.7(ATP7A):c.2782-9T>C
|
|
|
|
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val)
|
|
|
|
NM_000052.7(ATP7A):c.2790C>A (p.Ile930=)
|
rs2149100114
|
|
|
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met)
|
|
|
|
NM_000052.7(ATP7A):c.279G>A (p.Thr93=)
|
|
|
|
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2808A>G (p.Lys936=)
|
rs2149100126
|
|
|
NM_000052.7(ATP7A):c.2814T>C (p.Ser938=)
|
|
|
|
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser)
|
rs1569550056
|
|
|
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys)
|
|
|
|
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
|
|
|
|
NM_000052.7(ATP7A):c.2827C>T (p.Pro943Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile)
|
rs2077902319
|
|
|
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe)
|
|
|
|
NM_000052.7(ATP7A):c.2849T>C (p.Ile950Thr)
|
|
|
|
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr)
|
rs1557235719
|
|
|
NM_000052.7(ATP7A):c.2859C>G (p.Leu953=)
|
|
|
|
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn)
|
|
|
|
NM_000052.7(ATP7A):c.2870T>G (p.Ile957Ser)
|
|
|
|
NM_000052.7(ATP7A):c.2874A>C (p.Val958=)
|
|
|
|
NM_000052.7(ATP7A):c.2875A>G (p.Ile959Val)
|
|
|
|
NM_000052.7(ATP7A):c.2887A>G (p.Asn963Asp)
|
|
|
|
NM_000052.7(ATP7A):c.2898T>C (p.Ile966=)
|
|
|
|
NM_000052.7(ATP7A):c.2916+11T>G
|
|
|
|
NM_000052.7(ATP7A):c.2916+19C>T
|
|
|
|
NM_000052.7(ATP7A):c.2916+3_2916+6del
|
rs797045364
|
|
|
NM_000052.7(ATP7A):c.2917-13C>A
|
rs1343084607
|
|
|
NM_000052.7(ATP7A):c.2917-13C>T
|
|
|
|
NM_000052.7(ATP7A):c.2917-14C>G
|
|
|
|
NM_000052.7(ATP7A):c.2917-14C>T
|
|
|
|
NM_000052.7(ATP7A):c.2917-15G>T
|
|
|
|
NM_000052.7(ATP7A):c.2917-16T>C
|
|
|
|
NM_000052.7(ATP7A):c.2917-19T>G
|
|
|
|
NM_000052.7(ATP7A):c.2917-6C>T
|
|
|
|
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val)
|
|
|
|
NM_000052.7(ATP7A):c.2919C>G (p.Gly973=)
|
rs1557236690
|
|
|
NM_000052.7(ATP7A):c.2933T>A (p.Ile978Asn)
|
|
|
|
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys)
|
|
|
|
NM_000052.7(ATP7A):c.2938C>A (p.Arg980=)
|
rs72554649
|
|
|
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly)
|
|
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
|
NM_000052.7(ATP7A):c.2949G>A (p.Thr983=)
|
rs782757659
|
|
|
NM_000052.7(ATP7A):c.2949G>C (p.Thr983=)
|
|
|
|
NM_000052.7(ATP7A):c.2949G>T (p.Thr983=)
|
rs782757659
|
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
|
NM_000052.7(ATP7A):c.2967C>T (p.Phe989=)
|
rs2077967350
|
|
|
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val)
|
rs1353488746
|
|
|
NM_000052.7(ATP7A):c.297A>C (p.Pro99=)
|
|
|
|
NM_000052.7(ATP7A):c.297A>G (p.Pro99=)
|
|
|
|
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly)
|
rs2077967548
|
|
|
NM_000052.7(ATP7A):c.2986C>T (p.Leu996=)
|
|
|
|
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu)
|
rs797045365
|
|
|
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro)
|
|
|
|
NM_000052.7(ATP7A):c.3009A>C (p.Ser1003=)
|
rs2077967684
|
|
|
NM_000052.7(ATP7A):c.3012G>C (p.Leu1004=)
|
rs2149104881
|
|
|
NM_000052.7(ATP7A):c.3021C>T (p.Ala1007=)
|
|
|
|
NM_000052.7(ATP7A):c.3027A>G (p.Pro1009=)
|
|
|
|
NM_000052.7(ATP7A):c.3028A>T (p.Thr1010Ser)
|
rs782480109
|
|
|
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val)
|
rs1557236745
|
|
|
NM_000052.7(ATP7A):c.302A>G (p.Asp101Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3036G>A (p.Val1012=)
|
rs2149104907
|
|
|
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu)
|
rs1557236747
|
|
|
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3042G>A (p.Val1014=)
|
|
|
|
NM_000052.7(ATP7A):c.3045T>C (p.Gly1015=)
|
rs2149104924
|
|
|
NM_000052.7(ATP7A):c.3048A>T (p.Thr1016=)
|
rs2149104926
|
|
|
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser)
|
rs2077968146
|
|
|
NM_000052.7(ATP7A):c.305A>G (p.His102Arg)
|
rs1253495703
|
|
|
NM_000052.7(ATP7A):c.3066T>A (p.Asn1022Lys)
|
|
|
|
NM_000052.7(ATP7A):c.3069C>A (p.Gly1023=)
|
|
|
|
NM_000052.7(ATP7A):c.3072A>G (p.Ile1024Met)
|
|
|
|
NM_000052.7(ATP7A):c.3072A>T (p.Ile1024=)
|
|
|
|
NM_000052.7(ATP7A):c.3077T>C (p.Ile1026Thr)
|
rs2149104943
|
|
|
NM_000052.7(ATP7A):c.3081A>G (p.Lys1027=)
|
rs2149104947
|
|
|
NM_000052.7(ATP7A):c.308T>G (p.Ile103Ser)
|
|
|
|
NM_000052.7(ATP7A):c.3094T>G (p.Leu1032Val)
|
|
|
|
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3111+10T>C
|
|
|
|
NM_000052.7(ATP7A):c.3111+10T>G
|
|
|
|
NM_000052.7(ATP7A):c.3111+11C>A
|
|
|
|
NM_000052.7(ATP7A):c.3111+13C>G
|
|
|
|
NM_000052.7(ATP7A):c.3111+18A>T
|
rs2149104971
|
|
|
NM_000052.7(ATP7A):c.3111+19C>T
|
|
|
|
NM_000052.7(ATP7A):c.3111+1G>A
|
rs1557236762
|
|
|
NM_000052.7(ATP7A):c.3111+6A>G
|
rs2077968712
|
|
|
NM_000052.7(ATP7A):c.3111+7C>T
|
|
|
|
NM_000052.7(ATP7A):c.3111+8A>G
|
|
|
|
NM_000052.7(ATP7A):c.3111G>T (p.Lys1037Asn)
|
|
|
|
NM_000052.7(ATP7A):c.3112-15_3112-14dup
|
rs2077982901
|
|
|
NM_000052.7(ATP7A):c.3112-16C>G
|
rs2149106076
|
|
|
NM_000052.7(ATP7A):c.3112-18A>G
|
|
|
|
NM_000052.7(ATP7A):c.3112-5T>C
|
rs2149106085
|
|
|
NM_000052.7(ATP7A):c.3112-5dup
|
rs1569550186
|
|
|
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
|
|
|
|
NM_000052.7(ATP7A):c.3117G>A (p.Lys1039=)
|
|
|
|
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3118G>T (p.Val1040Leu)
|
|
|
|
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala)
|
rs2077983152
|
|
|
NM_000052.7(ATP7A):c.311A>C (p.Gln104Pro)
|
|
|
|
NM_000052.7(ATP7A):c.3129T>C (p.Phe1043=)
|
|
|
|
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=)
|
rs797045370
|
|
|
NM_000052.7(ATP7A):c.3141A>C (p.Gly1047=)
|
|
|
|
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln)
|
rs142998552
|
|
|
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala)
|
|
|
|
NM_000052.7(ATP7A):c.3158C>A (p.Thr1053Asn)
|
|
|
|
NM_000052.7(ATP7A):c.3162A>G (p.Pro1054=)
|
|
|
|
NM_000052.7(ATP7A):c.3168G>A (p.Val1056=)
|
rs371089220
|
|
|
NM_000052.7(ATP7A):c.3177A>C (p.Val1059=)
|
|
|
|
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg)
|
rs2077983527
|
|
|
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val)
|
|
|
|
NM_000052.7(ATP7A):c.3186A>G (p.Leu1062=)
|
rs2149106139
|
|
|
NM_000052.7(ATP7A):c.319T>C (p.Leu107=)
|
rs2149082638
|
|
|
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser)
|
rs2149106147
|
|
|
NM_000052.7(ATP7A):c.3212A>G (p.His1071Arg)
|
|
|
|
NM_000052.7(ATP7A):c.3226A>G (p.Ile1076Val)
|
|
|
|
NM_000052.7(ATP7A):c.3237T>G (p.Thr1079=)
|
rs2149106153
|
|
|
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn)
|
rs1603389390
|
|
|
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp)
|
|
|
|
NM_000052.7(ATP7A):c.3249C>T (p.Asn1083=)
|
|
|
|
NM_000052.7(ATP7A):c.3250dup (p.Ser1084fs)
|
rs1603389393
|
|
|
NM_000052.7(ATP7A):c.3252T>C (p.Ser1084=)
|
rs2149106168
|
|
|
NM_000052.7(ATP7A):c.3255A>G (p.Glu1085=)
|
rs2149106169
|
|
|
NM_000052.7(ATP7A):c.3256C>T (p.His1086Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.3258C>T (p.His1086=)
|
|
|
|
NM_000052.7(ATP7A):c.3264A>G (p.Leu1088=)
|
|
|
|
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile)
|
rs2149106178
|
|
|
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile)
|
rs996808810
|
|
|
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3288C>T (p.Cys1096=)
|
|
|
|
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln)
|
rs1557237081
|
|
|
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg)
|
|
|
|
NM_000052.7(ATP7A):c.3293A>T (p.Gln1098Leu)
|
|
|
|
NM_000052.7(ATP7A):c.3294+12dup
|
rs1223290704
|
|
|
NM_000052.7(ATP7A):c.3294+14C>T
|
|
|
|
NM_000052.7(ATP7A):c.3294+15dup
|
|
|
|
NM_000052.7(ATP7A):c.3294+16C>T
|
|
|
|
NM_000052.7(ATP7A):c.3294+1G>A
|
rs797045374
|
|
|
NM_000052.7(ATP7A):c.3294+3A>G
|
|
|
|
NM_000052.7(ATP7A):c.3294+7T>G
|
|
|
|
NM_000052.7(ATP7A):c.3294+8T>G
|
|
|
|
NM_000052.7(ATP7A):c.3295-11_3295-10del
|
|
|
|
NM_000052.7(ATP7A):c.3295-14T>C
|
|
|
|
NM_000052.7(ATP7A):c.3295-16T>C
|
|
|
|
NM_000052.7(ATP7A):c.3295-5G>T
|
rs2149107138
|
|
|
NM_000052.7(ATP7A):c.3295-6del
|
rs1557237411
|
|
|
NM_000052.7(ATP7A):c.329C>T (p.Thr110Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3313T>C (p.Leu1105=)
|
|
|
|
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr)
|
rs2149107157
|
|
|
NM_000052.7(ATP7A):c.332A>C (p.Lys111Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu)
|
|
|
|
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile)
|
rs879254006
|
|
|
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu)
|
|
|
|
NM_000052.7(ATP7A):c.3345A>G (p.Pro1115=)
|
|
|
|
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser)
|
rs2149107164
|
|
|
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser)
|
|
|
|
NM_000052.7(ATP7A):c.3354T>A (p.Gly1118=)
|
|
|
|
NM_000052.7(ATP7A):c.3357T>A (p.Ile1119=)
|
rs2149107179
|
|
|
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
|
|
|
|
NM_000052.7(ATP7A):c.3360C>T (p.Ser1120=)
|
|
|
|
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe)
|
rs2077995918
|
|
|
NM_000052.7(ATP7A):c.3377T>C (p.Ile1126Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3389T>C (p.Leu1130Pro)
|
|
|
|
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr)
|
rs2077996076
|
|
|
NM_000052.7(ATP7A):c.3397A>G (p.Asn1133Asp)
|
|
|
|
NM_000052.7(ATP7A):c.339G>A (p.Val113=)
|
|
|
|
NM_000052.7(ATP7A):c.3415G>A (p.Asp1139Asn)
|
rs2149107203
|
|
|
NM_000052.7(ATP7A):c.3421A>C (p.Asn1141His)
|
rs2149107206
|
|
|
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
|
|
|
|
NM_000052.7(ATP7A):c.3423T>C (p.Asn1141=)
|
|
|
|
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val)
|
|
|
|
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu)
|
|
|
|
NM_000052.7(ATP7A):c.3435A>G (p.Ala1145=)
|
|
|
|
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser)
|
rs1288867080
|
|
|
NM_000052.7(ATP7A):c.3462T>C (p.Asn1154=)
|
rs2149107223
|
|
|
NM_000052.7(ATP7A):c.3465A>G (p.Glu1155=)
|
|
|
|
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
|
|
|
|
NM_000052.7(ATP7A):c.3473C>A (p.Ser1158Ter)
|
rs1557237451
|
|
|
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile)
|
rs1557237452
|
|
|
NM_000052.7(ATP7A):c.3486C>T (p.Ser1162=)
|
|
|
|
NM_000052.7(ATP7A):c.3487A>G (p.Met1163Val)
|
|
|
|
NM_000052.7(ATP7A):c.3488T>A (p.Met1163Lys)
|
|
|
|
NM_000052.7(ATP7A):c.3489G>A (p.Met1163Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3493A>G (p.Ile1165Val)
|
|
|
|
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu)
|
|
|
|
NM_000052.7(ATP7A):c.3498T>C (p.Asp1166=)
|
rs2077996988
|
|
|
NM_000052.7(ATP7A):c.3501C>T (p.Ala1167=)
|
|
|
|
NM_000052.7(ATP7A):c.3505A>C (p.Ile1169Leu)
|
|
|
|
NM_000052.7(ATP7A):c.3507C>T (p.Ile1169=)
|
|
|
|
NM_000052.7(ATP7A):c.3511+8A>C
|
rs2149107265
|
|
|
NM_000052.7(ATP7A):c.3511+9A>C
|
|
|
|
NM_000052.7(ATP7A):c.3511+9A>T
|
rs2149107266
|
|
|
NM_000052.7(ATP7A):c.3512-14G>A
|
|
|
|
NM_000052.7(ATP7A):c.3512-16C>A
|
|
|
|
NM_000052.7(ATP7A):c.3512-16C>T
|
|
|
|
NM_000052.7(ATP7A):c.3512-6T>C
|
rs2078029932
|
|
|
NM_000052.7(ATP7A):c.3512-7C>T
|
|
|
|
NM_000052.7(ATP7A):c.3512-8A>T
|
|
|
|
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe)
|
|
|
|
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro)
|
|
|
|
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del)
|
|
|
|
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile)
|
rs876661235
|
|
|
NM_000052.7(ATP7A):c.3525T>C (p.Ala1175=)
|
|
|
|
NM_000052.7(ATP7A):c.3526C>T (p.Gln1176Ter)
|
rs2078030304
|
|
|
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu)
|
|
|
|
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val)
|
|
|
|
NM_000052.7(ATP7A):c.3531G>T (p.Gln1177His)
|
|
|
|
NM_000052.7(ATP7A):c.3537A>G (p.Lys1179=)
|
|
|
|
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr)
|
rs782588862
|
|
|
NM_000052.7(ATP7A):c.3560G>A (p.Trp1187Ter)
|
rs2149109587
|
|
|
NM_000052.7(ATP7A):c.357C>T (p.Tyr119=)
|
|
|
|
NM_000052.7(ATP7A):c.3582C>T (p.Val1194=)
|
|
|
|
NM_000052.7(ATP7A):c.358C>T (p.Pro120Ser)
|
|
|
|
NM_000052.7(ATP7A):c.3592G>T (p.Asp1198Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.3602A>T (p.Asp1201Val)
|
|
|
|
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val)
|
|
|
|
NM_000052.7(ATP7A):c.3605T>C (p.Phe1202Ser)
|
rs2078030949
|
|
|
NM_000052.7(ATP7A):c.360T>A (p.Pro120=)
|
rs1557231616
|
|
|
NM_000052.7(ATP7A):c.360T>G (p.Pro120=)
|
|
|
|
NM_000052.7(ATP7A):c.3623G>A (p.Arg1208Lys)
|
|
|
|
NM_000052.7(ATP7A):c.3624A>G (p.Arg1208=)
|
|
|
|
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu)
|
|
|
|
NM_000052.7(ATP7A):c.3630T>C (p.Gly1210=)
|
|
|
|
NM_000052.7(ATP7A):c.3631C>T (p.Arg1211Trp)
|
|
|
|
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala)
|
|
|
|
NM_000052.7(ATP7A):c.3652G>C (p.Val1218Leu)
|
|
|
|
NM_000052.7(ATP7A):c.3653T>C (p.Val1218Ala)
|
|
|
|
NM_000052.7(ATP7A):c.3658+12C>T
|
|
|
|
NM_000052.7(ATP7A):c.3658+17G>T
|
|
|
|
NM_000052.7(ATP7A):c.3658+19A>G
|
|
|
|
NM_000052.7(ATP7A):c.3658+4A>T
|
|
|
|
NM_000052.7(ATP7A):c.3659-15C>T
|
|
|
|
NM_000052.7(ATP7A):c.3659-7A>G
|
|
|
|
NM_000052.7(ATP7A):c.3659-9C>T
|
|
|
|
NM_000052.7(ATP7A):c.3666G>C (p.Leu1222=)
|
|
|
|
NM_000052.7(ATP7A):c.3670G>A (p.Gly1224Ser)
|
|
|
|
NM_000052.7(ATP7A):c.3671G>A (p.Gly1224Asp)
|
|
|
|
NM_000052.7(ATP7A):c.3671G>T (p.Gly1224Val)
|
|
|
|
NM_000052.7(ATP7A):c.3681C>T (p.Ala1227=)
|
|
|
|
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr)
|
|
|
|
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3690C>A (p.Asp1230Glu)
|
|
|
|
NM_000052.7(ATP7A):c.3699G>A (p.Lys1233=)
|
rs2149110480
|
|
|
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys)
|
rs2149110482
|
|
|
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3714G>A (p.Leu1238=)
|
|
|
|
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val)
|
|
|
|
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe)
|
rs1603390828
|
|
|
NM_000052.7(ATP7A):c.3727C>T (p.Leu1243=)
|
|
|
|
NM_000052.7(ATP7A):c.372T>C (p.Thr124=)
|
|
|
|
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr)
|
|
|
|
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu)
|
|
|
|
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu)
|
rs782688596
|
|
|
NM_000052.7(ATP7A):c.3753T>C (p.Val1251=)
|
|
|
|
NM_000052.7(ATP7A):c.3754C>T (p.Leu1252=)
|
rs2149110492
|
|
|
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn)
|
|
|
|
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile)
|
|
|
|
NM_000052.7(ATP7A):c.377C>T (p.Ala126Val)
|
|
|
|
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser)
|
rs2078041778
|
|
|
NM_000052.7(ATP7A):c.3786A>G (p.Arg1262=)
|
rs1557238272
|
|
|
NM_000052.7(ATP7A):c.3788C>A (p.Ser1263Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys)
|
rs372066609
|
|
|
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr)
|
rs2078042001
|
|
|
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
|
|
|
|
NM_000052.7(ATP7A):c.3801+10del
|
|
|
|
NM_000052.7(ATP7A):c.3801+11G>A
|
|
|
|
NM_000052.7(ATP7A):c.3801+13G>T
|
|
|
|
NM_000052.7(ATP7A):c.3801+17T>C
|
|
|
|
NM_000052.7(ATP7A):c.3801+20G>A
|
|
|
|
NM_000052.7(ATP7A):c.3802-12T>C
|
|
|
|
NM_000052.7(ATP7A):c.3802-15A>G
|
|
|
|
NM_000052.7(ATP7A):c.3802-6A>G
|
rs2149111706
|
|
|
NM_000052.7(ATP7A):c.3802-6A>T
|
rs2149111706
|
|
|
NM_000052.7(ATP7A):c.3810T>C (p.Ile1270=)
|
rs2149111712
|
|
|
NM_000052.7(ATP7A):c.3811A>G (p.Thr1271Ala)
|
|
|
|
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile)
|
rs932523090
|
|
|
NM_000052.7(ATP7A):c.3825T>C (p.Ala1275=)
|
|
|
|
NM_000052.7(ATP7A):c.3834A>G (p.Leu1278=)
|
rs2149111740
|
|
|
NM_000052.7(ATP7A):c.3840T>C (p.Ser1280=)
|
|
|
|
NM_000052.7(ATP7A):c.3846G>A (p.Lys1282=)
|
|
|
|
NM_000052.7(ATP7A):c.385A>G (p.Ile129Val)
|
|
|
|
NM_000052.7(ATP7A):c.3861G>A (p.Lys1287=)
|
rs1043267619
|
|
|
NM_000052.7(ATP7A):c.3864A>G (p.Gln1288=)
|
rs2149111751
|
|
|
NM_000052.7(ATP7A):c.3867T>G (p.Leu1289=)
|
|
|
|
NM_000052.7(ATP7A):c.3868C>T (p.Gln1290Ter)
|
rs1603391120
|
|
|
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)
|
rs999014839
|
|
|
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
|
|
|
|
NM_000052.7(ATP7A):c.3876G>A (p.Glu1292=)
|
|
|
|
NM_000052.7(ATP7A):c.3879G>A (p.Gly1293=)
|
|
|
|
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=)
|
rs372489000
|
|
|
NM_000052.7(ATP7A):c.3888A>G (p.Val1296=)
|
|
|
|
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile)
|
|
|
|
NM_000052.7(ATP7A):c.3917C>T (p.Ser1306Phe)
|
|
|
|
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser)
|
|
|
|
NM_000052.7(ATP7A):c.3927G>A (p.Leu1309=)
|
|
|
|
NM_000052.7(ATP7A):c.3930A>G (p.Ala1310=)
|
|
|
|
NM_000052.7(ATP7A):c.3939T>C (p.Asn1313=)
|
rs2149111823
|
|
|
NM_000052.7(ATP7A):c.393T>A (p.Pro131=)
|
|
|
|
NM_000052.7(ATP7A):c.3949G>C (p.Ala1317Pro)
|
|
|
|
NM_000052.7(ATP7A):c.3951T>A (p.Ala1317=)
|
|
|
|
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val)
|
|
|
|
NM_000052.7(ATP7A):c.3954T>C (p.Ile1318=)
|
|
|
|
NM_000052.7(ATP7A):c.395C>A (p.Ser132Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.3960A>G (p.Thr1320=)
|
|
|
|
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu)
|
|
|
|
NM_000052.7(ATP7A):c.3969T>C (p.Asp1323=)
|
rs369114635
|
|
|
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile)
|
rs782692001
|
|
|
NM_000052.7(ATP7A):c.3984A>C (p.Ala1328=)
|
|
|
|
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly)
|
|
|
|
NM_000052.7(ATP7A):c.3993G>A (p.Val1331=)
|
|
|
|
NM_000052.7(ATP7A):c.399A>G (p.Ile133Met)
|
|
|
|
NM_000052.7(ATP7A):c.39T>C (p.Ser13=)
|
rs986987107
|
|
|
NM_000052.7(ATP7A):c.4005+12G>A
|
|
|
|
NM_000052.7(ATP7A):c.4005+13G>T
|
|
|
|
NM_000052.7(ATP7A):c.4005+16T>A
|
|
|
|
NM_000052.7(ATP7A):c.4005+17G>C
|
|
|
|
NM_000052.7(ATP7A):c.4005+1G>T
|
rs797045391
|
|
|
NM_000052.7(ATP7A):c.4005+5G>A
|
|
|
|
NM_000052.7(ATP7A):c.4006-10C>G
|
|
|
|
NM_000052.7(ATP7A):c.4006-13T>C
|
|
|
|
NM_000052.7(ATP7A):c.4006-1G>A
|
rs1557238665
|
|
|
NM_000052.7(ATP7A):c.4006-4T>C
|
|
|
|
NM_000052.7(ATP7A):c.4006-7T>A
|
|
|
|
NM_000052.7(ATP7A):c.400G>A (p.Val134Met)
|
|
|
|
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu)
|
rs371441365
|
|
|
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
|
|
|
|
NM_000052.7(ATP7A):c.4015C>T (p.Leu1339=)
|
|
|
|
NM_000052.7(ATP7A):c.4017G>C (p.Leu1339=)
|
|
|
|
NM_000052.7(ATP7A):c.4020T>C (p.Asp1340=)
|
rs2078061918
|
|
|
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile)
|
|
|
|
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala)
|
rs2149112223
|
|
|
NM_000052.7(ATP7A):c.4027del (p.Ala1343fs)
|
rs2078061940
|
|
|
NM_000052.7(ATP7A):c.402G>C (p.Val134=)
|
|
|
|
NM_000052.7(ATP7A):c.4038C>A (p.Asp1346Glu)
|
rs375819425
|
|
|
NM_000052.7(ATP7A):c.4038C>T (p.Asp1346=)
|
rs375819425
|
|
|
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr)
|
rs2149112238
|
|
|
NM_000052.7(ATP7A):c.4048= (p.Lys1350=)
|
rs4826245
|
|
|
NM_000052.7(ATP7A):c.4048A>G (p.Lys1350Glu)
|
|
|
|
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn)
|
|
|
|
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp)
|
|
|
|
NM_000052.7(ATP7A):c.4056C>T (p.Val1352=)
|
|
|
|
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys)
|
rs2078062220
|
|
|
NM_000052.7(ATP7A):c.4062G>A (p.Arg1354=)
|
rs1603391261
|
|
|
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser)
|
rs1603391261
|
|
|
NM_000052.7(ATP7A):c.4071A>C (p.Ile1357=)
|
rs2078062354
|
|
|
NM_000052.7(ATP7A):c.4071A>G (p.Ile1357Met)
|
|
|
|
NM_000052.7(ATP7A):c.4074T>C (p.Asn1358=)
|
|
|
|
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
|
|
|
|
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe)
|
|
|
|
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile)
|
rs782483019
|
|
|
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser)
|
rs2149082684
|
|
|
NM_000052.7(ATP7A):c.4113C>T (p.Pro1371=)
|
|
|
|
NM_000052.7(ATP7A):c.4123+12T>A
|
|
|
|
NM_000052.7(ATP7A):c.4123+17T>C
|
|
|
|
NM_000052.7(ATP7A):c.4123+17T>G
|
|
|
|
NM_000052.7(ATP7A):c.4124-13A>G
|
|
|
|
NM_000052.7(ATP7A):c.4124-16C>T
|
|
|
|
NM_000052.7(ATP7A):c.4124-17C>A
|
|
|
|
NM_000052.7(ATP7A):c.4124-3T>C
|
|
|
|
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser)
|
|
|
|
NM_000052.7(ATP7A):c.4149T>A (p.Val1383=)
|
rs2149113522
|
|
|
NM_000052.7(ATP7A):c.4153C>T (p.Gln1385Ter)
|
|
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
|
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly)
|
|
|
|
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile)
|
rs2149113528
|
|
|
NM_000052.7(ATP7A):c.4166G>C (p.Gly1389Ala)
|
|
|
|
NM_000052.7(ATP7A):c.4167A>T (p.Gly1389=)
|
|
|
|
NM_000052.7(ATP7A):c.4176A>G (p.Ala1392=)
|
rs2149113538
|
|
|
NM_000052.7(ATP7A):c.4182T>A (p.Ala1394=)
|
rs2149113545
|
|
|
NM_000052.7(ATP7A):c.4188A>G (p.Ser1396=)
|
|
|
|
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg)
|
|
|
|
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala)
|
rs2149113564
|
|
|
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val)
|
|
|
|
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg)
|
|
|
|
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile)
|
rs2149113574
|
|
|
NM_000052.7(ATP7A):c.4226+12A>G
|
|
|
|
NM_000052.7(ATP7A):c.4226+18C>A
|
|
|
|
NM_000052.7(ATP7A):c.4226+20C>T
|
|
|
|
NM_000052.7(ATP7A):c.4226+6T>G
|
|
|
|
NM_000052.7(ATP7A):c.4226+7A>G
|
|
|
|
NM_000052.7(ATP7A):c.4226+9G>A
|
rs1557239012
|
|
|
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro)
|
|
|
|
NM_000052.7(ATP7A):c.4227-10A>G
|
|
|
|
NM_000052.7(ATP7A):c.4227-11C>T
|
rs2149113924
|
|
|
NM_000052.7(ATP7A):c.4227-12G>C
|
|
|
|
NM_000052.7(ATP7A):c.4227-13T>G
|
|
|
|
NM_000052.7(ATP7A):c.4227-16T>C
|
|
|
|
NM_000052.7(ATP7A):c.4227-17C>T
|
|
|
|
NM_000052.7(ATP7A):c.4227-18del
|
|
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
|
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys)
|
|
|
|
NM_000052.7(ATP7A):c.4238C>T (p.Pro1413Leu)
|
|
|
|
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
|
|
|
|
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
|
|
|
|
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly)
|
rs2149113944
|
|
|
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys)
|
|
|
|
NM_000052.7(ATP7A):c.4263T>C (p.Pro1421=)
|
rs2078083306
|
|
|
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs)
|
|
|
|
NM_000052.7(ATP7A):c.4264G>T (p.Ala1422Ser)
|
|
|
|
NM_000052.7(ATP7A):c.4266C>T (p.Ala1422=)
|
rs2149113967
|
|
|
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=)
|
rs149079962
|
|
|
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly)
|
rs149079962
|
|
|
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)
|
rs149079962
|
|
|
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly)
|
rs2149113979
|
|
|
NM_000052.7(ATP7A):c.4272C>T (p.Ser1424=)
|
rs2149113981
|
|
|
NM_000052.7(ATP7A):c.4277T>C (p.Ile1426Thr)
|
|
|
|
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg)
|
|
|
|
NM_000052.7(ATP7A):c.4288A>G (p.Ser1430Gly)
|
rs2149113992
|
|
|
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn)
|
|
|
|
NM_000052.7(ATP7A):c.429T>G (p.Val143=)
|
rs2149082691
|
|
|
NM_000052.7(ATP7A):c.4300A>C (p.Ile1434Leu)
|
rs2149113995
|
|
|
NM_000052.7(ATP7A):c.4308T>C (p.Val1436=)
|
rs2149114009
|
|
|
NM_000052.7(ATP7A):c.4316G>C (p.Gly1439Ala)
|
|
|
|
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr)
|
|
|
|
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg)
|
|
|
|
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr)
|
|
|
|
NM_000052.7(ATP7A):c.4332A>G (p.Ser1444=)
|
rs2149114035
|
|
|
NM_000052.7(ATP7A):c.4348C>T (p.Leu1450=)
|
rs2149114038
|
|
|
NM_000052.7(ATP7A):c.4350G>T (p.Leu1450=)
|
rs2149114044
|
|
|
NM_000052.7(ATP7A):c.4356G>T (p.Leu1452Phe)
|
|
|
|
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu)
|
rs147848649
|
|
|
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
|
|
|
|
NM_000052.7(ATP7A):c.4420C>T (p.Leu1474=)
|
|
|
|
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn)
|
|
|
|
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn)
|
|
|
|
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
|
|
|
|
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg)
|
rs1557239147
|
|
|
NM_000052.7(ATP7A):c.4447G>T (p.Asp1483Tyr)
|
rs2149114118
|
|
|
NM_000052.7(ATP7A):c.444A>G (p.Leu148=)
|
|
|
|
NM_000052.7(ATP7A):c.4465G>A (p.Val1489Met)
|
|
|
|
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala)
|
|
|
|
NM_000052.7(ATP7A):c.4467G>C (p.Val1489=)
|
rs1603391708
|
|
|
NM_000052.7(ATP7A):c.4470A>T (p.Gly1490=)
|
|
|
|
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu)
|
rs2149114133
|
|
|
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys)
|
|
|
|
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn)
|
|
|
|
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly)
|
rs1557239152
|
|
|
NM_000052.7(ATP7A):c.453G>T (p.Gly151=)
|
|
|
|
NM_000052.7(ATP7A):c.453del (p.Thr152fs)
|
rs1603381331
|
|
|
NM_000052.7(ATP7A):c.459G>A (p.Leu153=)
|
|
|
|
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp)
|
|
|
|
NM_000052.7(ATP7A):c.462dup (p.Lys155fs)
|
rs2077652014
|
|
|
NM_000052.7(ATP7A):c.466_467insC (p.Lys156fs)
|
|
|
|
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met)
|
rs2149082707
|
|
|
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys)
|
|
|
|
NM_000052.7(ATP7A):c.479G>C (p.Cys160Ser)
|
|
|
|
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.489T>C (p.His163=)
|
|
|
|
NM_000052.7(ATP7A):c.48T>G (p.Gly16=)
|
rs2149073819
|
|
|
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys)
|
|
|
|
NM_000052.7(ATP7A):c.499C>T (p.Gln167Ter)
|
|
|
|
NM_000052.7(ATP7A):c.504T>C (p.Ala168=)
|
|
|
|
NM_000052.7(ATP7A):c.523A>G (p.Met175Val)
|
|
|
|
NM_000052.7(ATP7A):c.524T>C (p.Met175Thr)
|
|
|
|
NM_000052.7(ATP7A):c.528A>G (p.Lys176=)
|
rs2149082749
|
|
|
NM_000052.7(ATP7A):c.52A>C (p.Thr18Pro)
|
|
|
|
NM_000052.7(ATP7A):c.52A>G (p.Thr18Ala)
|
|
|
|
NM_000052.7(ATP7A):c.534A>G (p.Glu178=)
|
rs2077652554
|
|
|
NM_000052.7(ATP7A):c.537G>A (p.Gly179=)
|
|
|
|
NM_000052.7(ATP7A):c.543C>T (p.Thr181=)
|
|
|
|
NM_000052.7(ATP7A):c.552A>G (p.Ser184=)
|
rs1557231655
|
|
|
NM_000052.7(ATP7A):c.552A>T (p.Ser184=)
|
|
|
|
NM_000052.7(ATP7A):c.555T>C (p.Cys185=)
|
|
|
|
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala)
|
rs1557231656
|
|
|
NM_000052.7(ATP7A):c.557C>T (p.Thr186Ile)
|
|
|
|
NM_000052.7(ATP7A):c.558T>G (p.Thr186=)
|
|
|
|
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
|
|
|
|
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
|
|
|
|
NM_000052.7(ATP7A):c.57C>T (p.Cys19=)
|
rs145406974
|
|
|
NM_000052.7(ATP7A):c.597T>C (p.Val199=)
|
|
|
|
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu)
|
|
|
|
NM_000052.7(ATP7A):c.599A>G (p.Gln200Arg)
|
|
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
|
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln)
|
rs897502448
|
|
|
NM_000052.7(ATP7A):c.610+10C>T
|
|
|
|
NM_000052.7(ATP7A):c.610+13G>A
|
|
|
|
NM_000052.7(ATP7A):c.610+15G>T
|
|
|
|
NM_000052.7(ATP7A):c.610+18G>T
|
|
|
|
NM_000052.7(ATP7A):c.610+19A>C
|
|
|
|
NM_000052.7(ATP7A):c.610+20T>C
|
|
|
|
NM_000052.7(ATP7A):c.610+2T>C
|
|
|
|
NM_000052.7(ATP7A):c.610+5T>C
|
|
|
|
NM_000052.7(ATP7A):c.611-10T>C
|
rs2149083014
|
|
|
NM_000052.7(ATP7A):c.611-16del
|
|
|
|
NM_000052.7(ATP7A):c.611-20T>C
|
|
|
|
NM_000052.7(ATP7A):c.611-21_611-17del
|
rs1350377636
|
|
|
NM_000052.7(ATP7A):c.611-5A>G
|
rs1557231730
|
|
|
NM_000052.7(ATP7A):c.611-6A>G
|
|
|
|
NM_000052.7(ATP7A):c.612C>T (p.Val204=)
|
rs2077655830
|
|
|
NM_000052.7(ATP7A):c.615C>T (p.Ser205=)
|
|
|
|
NM_000052.7(ATP7A):c.616C>T (p.Leu206=)
|
|
|
|
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg)
|
rs2149083027
|
|
|
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro)
|
|
|
|
NM_000052.7(ATP7A):c.656T>G (p.Leu219Arg)
|
|
|
|
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
|
|
|
|
NM_000052.7(ATP7A):c.657_661del (p.Ile220fs)
|
|
|
|
NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr)
|
rs2149083046
|
|
|
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr)
|
rs2077548143
|
|
|
NM_000052.7(ATP7A):c.674T>A (p.Met225Lys)
|
|
|
|
NM_000052.7(ATP7A):c.675G>A (p.Met225Ile)
|
|
|
|
NM_000052.7(ATP7A):c.678A>G (p.Lys226=)
|
|
|
|
NM_000052.7(ATP7A):c.67G>A (p.Val23Ile)
|
|
|
|
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr)
|
rs1557231750
|
|
|
NM_000052.7(ATP7A):c.687T>C (p.Ile229=)
|
|
|
|
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp)
|
|
|
|
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr)
|
rs2149083058
|
|
|
NM_000052.7(ATP7A):c.69T>G (p.Val23=)
|
|
|
|
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu)
|
|
|
|
NM_000052.7(ATP7A):c.707C>T (p.Ala236Val)
|
|
|
|
NM_000052.7(ATP7A):c.714C>A (p.Val238=)
|
rs2149083069
|
|
|
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn)
|
|
|
|
NM_000052.7(ATP7A):c.721C>G (p.Gln241Glu)
|
|
|
|
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg)
|
|
|
|
NM_000052.7(ATP7A):c.729G>T (p.Lys243Asn)
|
rs782326318
|
|
|
NM_000052.7(ATP7A):c.737A>C (p.Lys246Thr)
|
rs184646064
|
|
|
NM_000052.7(ATP7A):c.737A>T (p.Lys246Ile)
|
|
|
|
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser)
|
|
|
|
NM_000052.7(ATP7A):c.748A>C (p.Ile250Leu)
|
|
|
|
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn)
|
|
|
|
NM_000052.7(ATP7A):c.753T>C (p.Asp251=)
|
rs2149083096
|
|
|
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile)
|
|
|
|
NM_000052.7(ATP7A):c.756A>G (p.Val252=)
|
|
|
|
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
|
|
|
|
NM_000052.7(ATP7A):c.774A>G (p.Thr258=)
|
|
|
|
NM_000052.7(ATP7A):c.776del (p.Pro259fs)
|
|
|
|
NM_000052.7(ATP7A):c.778G>A (p.Val260Ile)
|
|
|
|
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
|
|
|
|
NM_000052.7(ATP7A):c.789A>G (p.Ser263=)
|
|
|
|
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr)
|
rs2077656822
|
|
|
NM_000052.7(ATP7A):c.798A>G (p.Ser266=)
|
|
|
|
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg)
|
|
|
|
NM_000052.7(ATP7A):c.801G>A (p.Gln267=)
|
|
|
|
NM_000052.7(ATP7A):c.802C>T (p.Gln268Ter)
|
rs2149083118
|
|
|
NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser)
|
rs868946047
|
|
|
NM_000052.7(ATP7A):c.816A>G (p.Ser272=)
|
rs2149083124
|
|
|
NM_000052.7(ATP7A):c.81G>A (p.Glu27=)
|
rs2149073851
|
|
|
NM_000052.7(ATP7A):c.822C>T (p.Thr274=)
|
rs2149083127
|
|
|
NM_000052.7(ATP7A):c.824A>T (p.Asn275Ile)
|
|
|
|
NM_000052.7(ATP7A):c.828T>C (p.Asp276=)
|
rs2077656976
|
|
|
NM_000052.7(ATP7A):c.831A>T (p.Ser277=)
|
rs2149083138
|
|
|
NM_000052.7(ATP7A):c.833C>G (p.Thr278Arg)
|
|
|
|
NM_000052.7(ATP7A):c.833C>T (p.Thr278Ile)
|
|
|
|
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp)
|
|
|
|
NM_000052.7(ATP7A):c.837C>T (p.Ala279=)
|
|
|
|
NM_000052.7(ATP7A):c.843C>T (p.Phe281=)
|
|
|
|
NM_000052.7(ATP7A):c.849T>A (p.Ile283=)
|
|
|
|
NM_000052.7(ATP7A):c.84G>A (p.Gln28=)
|
rs1603378828
|
|
|
NM_000052.7(ATP7A):c.850G>A (p.Asp284Asn)
|
|
|
|
NM_000052.7(ATP7A):c.854G>A (p.Gly285Asp)
|
|
|
|
NM_000052.7(ATP7A):c.860A>G (p.His287Arg)
|
|
|
|
NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro)
|
|
|
|
NM_000052.7(ATP7A):c.870A>C (p.Ser290=)
|
|
|
|
NM_000052.7(ATP7A):c.870_871del (p.Ser293fs)
|
|
|
|
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
|
|
|
|
NM_000052.7(ATP7A):c.897del (p.Leu299fs)
|
|
|
|
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro)
|
|
|
|
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys)
|
|
|
|
NM_000052.7(ATP7A):c.8C>G (p.Pro3Arg)
|
|
|
|
NM_000052.7(ATP7A):c.903A>C (p.Ala301=)
|
rs1557231803
|
|
|
NM_000052.7(ATP7A):c.905T>C (p.Leu302Pro)
|
|
|
|
NM_000052.7(ATP7A):c.906C>T (p.Leu302=)
|
|
|
|
NM_000052.7(ATP7A):c.90T>G (p.Ile30Met)
|
rs2149073867
|
|
|
NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly)
|
|
|
|
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met)
|
|
|
|
NM_000052.7(ATP7A):c.927A>G (p.Val309=)
|
rs2149083187
|
|
|
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu)
|
rs1569549378
|
|
|
NM_000052.7(ATP7A):c.939G>A (p.Glu313=)
|
|
|
|
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser)
|
rs1064797375
|
|
|
NM_000052.7(ATP7A):c.942T>C (p.Asn314=)
|
rs2149083195
|
|
|
NM_000052.7(ATP7A):c.945G>A (p.Arg315=)
|
rs2149083198
|
|
|
NM_000052.7(ATP7A):c.945G>T (p.Arg315Ser)
|
rs2149083198
|
|
|
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln)
|
rs2077548318
|
|
|
NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu)
|
|
|
|
NM_000052.7(ATP7A):c.964A>G (p.Asn322Asp)
|
|
|
|
NM_000052.7(ATP7A):c.971G>C (p.Ser324Thr)
|
rs2149083223
|
|
|
NM_000052.7(ATP7A):c.978C>T (p.Val326=)
|
|
|
|
NM_000165.5(GJA1):c.1001C>T (p.Pro334Leu)
|
|
|
|
NM_000165.5(GJA1):c.1007A>T (p.Asp336Val)
|
|
|
|
NM_000165.5(GJA1):c.103C>T (p.Leu35=)
|
|
|
|
NM_000165.5(GJA1):c.1055A>T (p.Glu352Val)
|
|
|
|
NM_000165.5(GJA1):c.1056A>G (p.Glu352=)
|
|
|
|
NM_000165.5(GJA1):c.105G>A (p.Leu35=)
|
|
|
|
NM_000165.5(GJA1):c.1075G>A (p.Val359Met)
|
|
|
|
NM_000165.5(GJA1):c.1103G>A (p.Ser368Asn)
|
rs1064796878
|
|
|
NM_000165.5(GJA1):c.1114A>G (p.Ser372Gly)
|
|
|
|
NM_000165.5(GJA1):c.1137C>A (p.Asp379Glu)
|
|
|
|
NM_000165.5(GJA1):c.113G>A (p.Gly38Glu)
|
|
|
|
NM_000165.5(GJA1):c.1146C>T (p.Ile382=)
|
|
|
|
NM_000165.5(GJA1):c.116C>T (p.Thr39Ile)
|
|
|
|
NM_000165.5(GJA1):c.119C>T (p.Ala40Val)
|
rs1554200992
|
|
|
NM_000165.5(GJA1):c.119_121del (p.Ala40del)
|
rs2114282978
|
|
|
NM_000165.5(GJA1):c.120_131del (p.Val41_Ala44del)
|
rs1562173999
|
|
|
NM_000165.5(GJA1):c.121G>C (p.Val41Leu)
|
|
|
|
NM_000165.5(GJA1):c.131C>T (p.Ala44Val)
|
rs794729675
|
|
|
NM_000165.5(GJA1):c.140A>T (p.Asp47Val)
|
rs1554200995
|
|
|
NM_000165.5(GJA1):c.142G>A (p.Glu48Lys)
|
rs1773899790
|
|
|
NM_000165.5(GJA1):c.152C>G (p.Ala51Gly)
|
|
|
|
NM_000165.5(GJA1):c.158G>A (p.Arg53His)
|
|
|
|
NM_000165.5(GJA1):c.162dup (p.Asn55Ter)
|
rs2114283056
|
|
|
NM_000165.5(GJA1):c.172C>A (p.Gln58Lys)
|
|
|
|
NM_000165.5(GJA1):c.180T>C (p.Gly60=)
|
|
|
|
NM_000165.5(GJA1):c.184G>A (p.Glu62Lys)
|
|
|
|
NM_000165.5(GJA1):c.187A>G (p.Asn63Asp)
|
|
|
|
NM_000165.5(GJA1):c.189T>G (p.Asn63Lys)
|
rs139688042
|
|
|
NM_000165.5(GJA1):c.196T>C (p.Tyr66His)
|
rs2114283106
|
|
|
NM_000165.5(GJA1):c.197A>G (p.Tyr66Cys)
|
|
|
|
NM_000165.5(GJA1):c.204G>A (p.Lys68=)
|
|
|
|
NM_000165.5(GJA1):c.219T>C (p.Ser73=)
|
|
|
|
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)
|
rs267606845
|
|
|
NM_000165.5(GJA1):c.226C>T (p.Arg76Cys)
|
|
|
|
NM_000165.5(GJA1):c.233G>C (p.Trp78Ser)
|
|
|
|
NM_000165.5(GJA1):c.246C>G (p.Ile82Met)
|
rs1773901440
|
|
|
NM_000165.5(GJA1):c.249A>T (p.Ile83=)
|
|
|
|
NM_000165.5(GJA1):c.252T>A (p.Phe84Leu)
|
rs1773901515
|
|
|
NM_000165.5(GJA1):c.256T>A (p.Ser86Thr)
|
rs2114283193
|
|
|
NM_000165.5(GJA1):c.264C>T (p.Pro88=)
|
|
|
|
NM_000165.5(GJA1):c.270C>G (p.Leu90=)
|
rs886061009
|
|
|
NM_000165.5(GJA1):c.283C>T (p.His95Tyr)
|
|
|
|
NM_000165.5(GJA1):c.286G>A (p.Val96Met)
|
rs28931601
|
|
|
NM_000165.5(GJA1):c.287T>C (p.Val96Ala)
|
|
|
|
NM_000165.5(GJA1):c.296T>A (p.Val99Glu)
|
rs1554201009
|
|
|
NM_000165.5(GJA1):c.302G>A (p.Arg101Gln)
|
|
|
|
NM_000165.5(GJA1):c.305A>T (p.Lys102Met)
|
|
|
|
NM_000165.5(GJA1):c.306G>C (p.Lys102Asn)
|
rs1554201011
|
|
|
NM_000165.5(GJA1):c.317T>C (p.Leu106Pro)
|
rs2114283321
|
|
|
NM_000165.5(GJA1):c.328G>A (p.Glu110Lys)
|
|
|
|
NM_000165.5(GJA1):c.32T>A (p.Leu11His)
|
|
|
|
NM_000165.5(GJA1):c.330G>A (p.Glu110=)
|
|
|
|
NM_000165.5(GJA1):c.357T>C (p.Asp119=)
|
rs1773903093
|
|
|
NM_000165.5(GJA1):c.359G>C (p.Gly120Ala)
|
|
|
|
NM_000165.5(GJA1):c.361G>A (p.Val121Ile)
|
|
|
|
NM_000165.5(GJA1):c.366T>C (p.Asn122=)
|
rs2114283391
|
|
|
NM_000165.5(GJA1):c.369G>T (p.Val123=)
|
|
|
|
NM_000165.5(GJA1):c.389T>C (p.Ile130Thr)
|
rs1554201017
|
|
|
NM_000165.5(GJA1):c.393G>A (p.Glu131=)
|
|
|
|
NM_000165.5(GJA1):c.402G>C (p.Lys134Asn)
|
|
|
|
NM_000165.5(GJA1):c.412G>A (p.Gly138Ser)
|
rs1554201018
|
|
|
NM_000165.5(GJA1):c.413G>A (p.Gly138Asp)
|
rs1554201019
|
|
|
NM_000165.5(GJA1):c.413G>T (p.Gly138Val)
|
|
|
|
NM_000165.5(GJA1):c.430A>T (p.Lys144Ter)
|
|
|
|
NM_000165.5(GJA1):c.445G>A (p.Gly149Arg)
|
|
|
|
NM_000165.5(GJA1):c.450G>T (p.Gly150=)
|
rs752221637
|
|
|
NM_000165.5(GJA1):c.457C>T (p.Arg153Ter)
|
|
|
|
NM_000165.5(GJA1):c.458G>A (p.Arg153Gln)
|
|
|
|
NM_000165.5(GJA1):c.461C>A (p.Thr154Asn)
|
|
|
|
NM_000165.5(GJA1):c.461_465dup (p.Ile156fs)
|
|
|
|
NM_000165.5(GJA1):c.466A>G (p.Ile156Val)
|
|
|
|
NM_000165.5(GJA1):c.489T>A (p.Ser163=)
|
|
|
|
NM_000165.5(GJA1):c.492C>T (p.Ile164=)
|
|
|
|
NM_000165.5(GJA1):c.493T>C (p.Phe165Leu)
|
|
|
|
NM_000165.5(GJA1):c.494T>C (p.Phe165Ser)
|
|
|
|
NM_000165.5(GJA1):c.501G>A (p.Val167=)
|
|
|
|
NM_000165.5(GJA1):c.502G>A (p.Ala168Thr)
|
rs2228961
|
|
|
NM_000165.5(GJA1):c.503C>G (p.Ala168Gly)
|
|
|
|
NM_000165.5(GJA1):c.526A>G (p.Ile176Val)
|
rs878853696
|
|
|
NM_000165.5(GJA1):c.528C>A (p.Ile176=)
|
|
|
|
NM_000165.5(GJA1):c.528C>G (p.Ile176Met)
|
|
|
|
NM_000165.5(GJA1):c.539G>T (p.Ser180Ile)
|
|
|
|
NM_000165.5(GJA1):c.53C>A (p.Ser18Ter)
|
rs1773898086
|
|
|
NM_000165.5(GJA1):c.545G>A (p.Ser182Asn)
|
|
|
|
NM_000165.5(GJA1):c.565del (p.Arg189fs)
|
rs1582558420
|
|
|
NM_000165.5(GJA1):c.577C>G (p.Pro193Ala)
|
rs1773907180
|
|
|
NM_000165.5(GJA1):c.586G>A (p.Val196Met)
|
|
|
|
NM_000165.5(GJA1):c.605G>A (p.Arg202His)
|
rs750294638
|
|
|
NM_000165.5(GJA1):c.606C>A (p.Arg202=)
|
|
|
|
NM_000165.5(GJA1):c.633C>T (p.Ile211=)
|
rs2114283896
|
|
|
NM_000165.5(GJA1):c.634T>A (p.Phe212Ile)
|
rs1773908003
|
|
|
NM_000165.5(GJA1):c.643G>A (p.Val215Met)
|
rs1390364475
|
|
|
NM_000165.5(GJA1):c.645G>A (p.Val215=)
|
|
|
|
NM_000165.5(GJA1):c.64G>A (p.Gly22Arg)
|
rs1773898234
|
|
|
NM_000165.5(GJA1):c.651C>A (p.Ser217=)
|
|
|
|
NM_000165.5(GJA1):c.654G>A (p.Leu218=)
|
|
|
|
NM_000165.5(GJA1):c.655G>A (p.Val219Met)
|
|
|
|
NM_000165.5(GJA1):c.655G>C (p.Val219Leu)
|
|
|
|
NM_000165.5(GJA1):c.65G>A (p.Gly22Glu)
|
rs104893964
|
|
|
NM_000165.5(GJA1):c.669G>A (p.Leu223=)
|
|
|
|
NM_000165.5(GJA1):c.679G>C (p.Glu227Gln)
|
|
|
|
NM_000165.5(GJA1):c.680A>G (p.Glu227Gly)
|
|
|
|
NM_000165.5(GJA1):c.681A>T (p.Glu227Asp)
|
rs875989815
|
|
|
NM_000165.5(GJA1):c.682C>T (p.Leu228Phe)
|
|
|
|
NM_000165.5(GJA1):c.683T>G (p.Leu228Arg)
|
|
|
|
NM_000165.5(GJA1):c.689del (p.Tyr230fs)
|
rs2114283978
|
|
|
NM_000165.5(GJA1):c.6T>C (p.Gly2=)
|
|
|
|
NM_000165.5(GJA1):c.711G>C (p.Lys237Asn)
|
|
|
|
NM_000165.5(GJA1):c.717G>A (p.Arg239=)
|
rs57946868
|
|
|
NM_000165.5(GJA1):c.717G>C (p.Arg239=)
|
rs57946868
|
|
|
NM_000165.5(GJA1):c.718_719delinsAA (p.Val240Asn)
|
rs2114284069
|
|
|
NM_000165.5(GJA1):c.732C>A (p.Ser244Arg)
|
rs754052391
|
|
|
NM_000165.5(GJA1):c.733G>A (p.Asp245Asn)
|
|
|
|
NM_000165.5(GJA1):c.735C>T (p.Asp245=)
|
rs779133243
|
|
|
NM_000165.5(GJA1):c.736C>A (p.Pro246Thr)
|
|
|
|
NM_000165.5(GJA1):c.746C>T (p.Ala249Val)
|
|
|
|
NM_000165.5(GJA1):c.747G>A (p.Ala249=)
|
|
|
|
NM_000165.5(GJA1):c.747G>C (p.Ala249=)
|
|
|
|
NM_000165.5(GJA1):c.755G>A (p.Gly252Asp)
|
rs1773910782
|
|
|
NM_000165.5(GJA1):c.759G>T (p.Ala253=)
|
|
|
|
NM_000165.5(GJA1):c.761T>C (p.Leu254Pro)
|
rs1374645750
|
|
|
NM_000165.5(GJA1):c.803T>C (p.Phe268Ser)
|
|
|
|
NM_000165.5(GJA1):c.81A>G (p.Ser27=)
|
|
|
|
NM_000165.5(GJA1):c.826G>A (p.Ala276Thr)
|
|
|
|
NM_000165.5(GJA1):c.831C>T (p.Pro277=)
|
|
|
|
NM_000165.5(GJA1):c.832C>T (p.Leu278Phe)
|
|
|
|
NM_000165.5(GJA1):c.837G>T (p.Ser279=)
|
|
|
|
NM_000165.5(GJA1):c.838C>T (p.Pro280Ser)
|
|
|
|
NM_000165.5(GJA1):c.847CCT[1] (p.Pro284del)
|
|
|
|
NM_000165.5(GJA1):c.851C>T (p.Pro284Leu)
|
|
|
|
NM_000165.5(GJA1):c.852T>G (p.Pro284=)
|
|
|
|
NM_000165.5(GJA1):c.861G>T (p.Lys287Asn)
|
|
|
|
NM_000165.5(GJA1):c.867T>A (p.Val289=)
|
|
|
|
NM_000165.5(GJA1):c.875A>G (p.Asp292Gly)
|
|
|
|
NM_000165.5(GJA1):c.875A>T (p.Asp292Val)
|
|
|
|
NM_000165.5(GJA1):c.882C>G (p.Asn294Lys)
|
|
|
|
NM_000165.5(GJA1):c.884A>G (p.Asn295Ser)
|
|
|
|
NM_000165.5(GJA1):c.886T>C (p.Ser296Pro)
|
rs1773914179
|
|
|
NM_000165.5(GJA1):c.887CTT[1] (p.Ser297del)
|
rs976659652
|
|
|
NM_000165.5(GJA1):c.895C>A (p.Arg299Ser)
|
rs748954821
|
|
|
NM_000165.5(GJA1):c.895C>T (p.Arg299Cys)
|
rs748954821
|
|
|
NM_000165.5(GJA1):c.896G>T (p.Arg299Leu)
|
rs778457698
|
|
|
NM_000165.5(GJA1):c.904A>G (p.Asn302Asp)
|
|
|
|
NM_000165.5(GJA1):c.906C>T (p.Asn302=)
|
|
|
|
NM_000165.5(GJA1):c.908A>G (p.Lys303Arg)
|
|
|
|
NM_000165.5(GJA1):c.927C>T (p.Asn309=)
|
|
|
|
NM_000165.5(GJA1):c.92T>G (p.Ile31Ser)
|
|
|
|
NM_000165.5(GJA1):c.937_945dup (p.Ala315_Glu316insTyrSerAla)
|
|
|
|
NM_000165.5(GJA1):c.942T>C (p.Ser314=)
|
|
|
|
NM_000165.5(GJA1):c.952A>C (p.Asn318His)
|
|
|
|
NM_000165.5(GJA1):c.954T>C (p.Asn318=)
|
|
|
|
NM_000165.5(GJA1):c.956G>A (p.Arg319Gln)
|
|
|
|
NM_000165.5(GJA1):c.962G>A (p.Gly321Glu)
|
rs1294212392
|
|
|
NM_000165.5(GJA1):c.969G>A (p.Ala323=)
|
|
|
|
NM_000165.5(GJA1):c.971G>A (p.Gly324Glu)
|
|
|
|
NM_000165.5(GJA1):c.977C>T (p.Thr326Ile)
|
|
|
|
NM_000165.5(GJA1):c.981C>G (p.Ile327Met)
|
|
|
|
NM_000165.5(GJA1):c.989C>G (p.Ser330Cys)
|
|
|
|
NM_000165.5(GJA1):c.992A>T (p.His331Leu)
|
|
|
|
NM_000168.6(GLI3):c.1028+12C>A
|
|
|
|
NM_000168.6(GLI3):c.1029-15A>T
|
|
|
|
NM_000168.6(GLI3):c.1029-22dup
|
rs559579130
|
|
|
NM_000168.6(GLI3):c.1029-6G>A
|
rs748670269
|
|
|
NM_000168.6(GLI3):c.1029-6G>T
|
|
|
|
NM_000168.6(GLI3):c.1040G>A (p.Ser347Asn)
|
|
|
|
NM_000168.6(GLI3):c.1056C>G (p.Ser352=)
|
|
|
|
NM_000168.6(GLI3):c.1056C>T (p.Ser352=)
|
|
|
|
NM_000168.6(GLI3):c.1058C>T (p.Ala353Val)
|
|
|
|
NM_000168.6(GLI3):c.1062C>T (p.Pro354=)
|
rs1446107833
|
|
|
NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)
|
rs1583805203
|
|
|
NM_000168.6(GLI3):c.1123G>C (p.Gly375Arg)
|
|
|
|
NM_000168.6(GLI3):c.1128C>G (p.His376Gln)
|
|
|
|
NM_000168.6(GLI3):c.1177A>G (p.Ile393Val)
|
rs1380213537
|
|
|
NM_000168.6(GLI3):c.1194G>A (p.Thr398=)
|
|
|
|
NM_000168.6(GLI3):c.1204C>G (p.Pro402Ala)
|
|
|
|
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile)
|
rs201070431
|
|
|
NM_000168.6(GLI3):c.1217G>C (p.Ser406Thr)
|
|
|
|
NM_000168.6(GLI3):c.1242+16C>G
|
rs754808194
|
|
|
NM_000168.6(GLI3):c.1242+7G>A
|
|
|
|
NM_000168.6(GLI3):c.125-10_125-4del
|
|
|
|
NM_000168.6(GLI3):c.1254G>A (p.Thr418=)
|
|
|
|
NM_000168.6(GLI3):c.1289T>C (p.Met430Thr)
|
|
|
|
NM_000168.6(GLI3):c.12G>T (p.Gln4His)
|
|
|
|
NM_000168.6(GLI3):c.1317C>T (p.Pro439=)
|
|
|
|
NM_000168.6(GLI3):c.1327C>G (p.Leu443Val)
|
|
|
|
NM_000168.6(GLI3):c.1332C>T (p.Pro444=)
|
|
|
|
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val)
|
rs912576738
|
|
|
NM_000168.6(GLI3):c.1345C>T (p.Arg449Trp)
|
|
|
|
NM_000168.6(GLI3):c.1346G>C (p.Arg449Pro)
|
rs745809543
|
|
|
NM_000168.6(GLI3):c.1348G>T (p.Gly450Trp)
|
|
|
|
NM_000168.6(GLI3):c.1353G>T (p.Gln451His)
|
|
|
|
NM_000168.6(GLI3):c.1356+10_1356+11delinsAC
|
rs2128731533
|
|
|
NM_000168.6(GLI3):c.1356+16C>T
|
|
|
|
NM_000168.6(GLI3):c.1356+17G>A
|
|
|
|
NM_000168.6(GLI3):c.1357-10C>G
|
rs562653058
|
|
|
NM_000168.6(GLI3):c.1357-10C>T
|
|
|
|
NM_000168.6(GLI3):c.1357-12C>T
|
rs2128730836
|
|
|
NM_000168.6(GLI3):c.1357-4T>C
|
rs1583801312
|
|
|
NM_000168.6(GLI3):c.1357-7_1357-5del
|
|
|
|
NM_000168.6(GLI3):c.1357-9T>A
|
rs1583801330
|
|
|
NM_000168.6(GLI3):c.135T>A (p.Ser45Arg)
|
|
|
|
NM_000168.6(GLI3):c.1366G>A (p.Glu456Lys)
|
|
|
|
NM_000168.6(GLI3):c.1375A>G (p.Thr459Ala)
|
|
|
|
NM_000168.6(GLI3):c.13T>C (p.Ser5Pro)
|
|
|
|
NM_000168.6(GLI3):c.1415A>G (p.Gln472Arg)
|
|
|
|
NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer)
|
rs1583801167
|
|
|
NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter)
|
rs1562690271
|
|
|
NM_000168.6(GLI3):c.1457G>C (p.Gly486Ala)
|
|
|
|
NM_000168.6(GLI3):c.1459T>A (p.Cys487Ser)
|
|
|
|
NM_000168.6(GLI3):c.1461C>T (p.Cys487=)
|
|
|
|
NM_000168.6(GLI3):c.1463C>T (p.Ala488Val)
|
|
|
|
NM_000168.6(GLI3):c.1470G>C (p.Glu490Asp)
|
|
|
|
NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu)
|
|
|
|
NM_000168.6(GLI3):c.1473C>G (p.Phe491Leu)
|
rs572462647
|
|
|
NM_000168.6(GLI3):c.1497+1G>A
|
rs1399654830
|
|
|
NM_000168.6(GLI3):c.1497+5G>A
|
rs2128730749
|
|
|
NM_000168.6(GLI3):c.1497C>G (p.His499Gln)
|
rs539144173
|
|
|
NM_000168.6(GLI3):c.1497C>T (p.His499=)
|
rs539144173
|
|
|
NM_000168.6(GLI3):c.1498-4C>T
|
|
|
|
NM_000168.6(GLI3):c.1498-6C>T
|
|
|
|
NM_000168.6(GLI3):c.1506T>C (p.Asn502=)
|
rs1413686614
|
|
|
NM_000168.6(GLI3):c.1509C>T (p.Asn503=)
|
rs34020684
|
|
|
NM_000168.6(GLI3):c.1530G>A (p.Lys510=)
|
|
|
|
NM_000168.6(GLI3):c.1539C>T (p.Phe513=)
|
|
|
|
NM_000168.6(GLI3):c.1553T>A (p.Leu518Gln)
|
|
|
|
NM_000168.6(GLI3):c.1555_1567del (p.Asp519fs)
|
|
|
|
NM_000168.6(GLI3):c.158A>G (p.Glu53Gly)
|
|
|
|
NM_000168.6(GLI3):c.1596G>A (p.Met532Ile)
|
|
|
|
NM_000168.6(GLI3):c.1613G>A (p.Arg538Lys)
|
rs2128712790
|
|
|
NM_000168.6(GLI3):c.1618C>G (p.His540Asp)
|
|
|
|
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met)
|
rs1562667078
|
|
|
NM_000168.6(GLI3):c.1623G>A (p.Thr541=)
|
|
|
|
NM_000168.6(GLI3):c.1626C>T (p.Gly542=)
|
|
|
|
NM_000168.6(GLI3):c.1627G>A (p.Glu543Lys)
|
rs121917711
|
|
|
NM_000168.6(GLI3):c.1629G>A (p.Glu543=)
|
|
|
|
NM_000168.6(GLI3):c.1647+11A>C
|
|
|
|
NM_000168.6(GLI3):c.1647+16G>C
|
|
|
|
NM_000168.6(GLI3):c.1647+5G>T
|
|
|
|
NM_000168.6(GLI3):c.1648delT (p.Phe550fs)
|
|
|
|
NM_000168.6(GLI3):c.1674G>A (p.Ser558=)
|
|
|
|
NM_000168.6(GLI3):c.1749C>T (p.Cys583=)
|
|
|
|
NM_000168.6(GLI3):c.1777C>G (p.Arg593Gly)
|
rs1787545027
|
|
|
NM_000168.6(GLI3):c.1778G>A (p.Arg593His)
|
|
|
|
NM_000168.6(GLI3):c.1778del (p.Arg593fs)
|
rs1583747773
|
|
|
NM_000168.6(GLI3):c.17A>C (p.His6Pro)
|
|
|
|
NM_000168.6(GLI3):c.1812+7A>T
|
|
|
|
NM_000168.6(GLI3):c.1818A>G (p.Pro606=)
|
|
|
|
NM_000168.6(GLI3):c.1822G>A (p.Val608Met)
|
|
|
|
NM_000168.6(GLI3):c.1824G>A (p.Val608=)
|
|
|
|
NM_000168.6(GLI3):c.1835C>T (p.Pro612Leu)
|
|
|
|
NM_000168.6(GLI3):c.1849_1850insTTA (p.Arg617delinsLeuSer)
|
|
|
|
NM_000168.6(GLI3):c.1865G>A (p.Ser622Asn)
|
rs2128710024
|
|
|
NM_000168.6(GLI3):c.186A>G (p.Pro62=)
|
rs1452738609
|
|
|
NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln)
|
rs1554306094
|
|
|
NM_000168.6(GLI3):c.1878del (p.Lys626fs)
|
rs1554306093
|
|
|
NM_000168.6(GLI3):c.1902A>T (p.Pro634=)
|
|
|
|
NM_000168.6(GLI3):c.1911T>C (p.His637=)
|
rs886038265
|
|
|
NM_000168.6(GLI3):c.1919A>G (p.Lys640Arg)
|
rs1583741915
|
|
|
NM_000168.6(GLI3):c.1930G>A (p.Gly644Arg)
|
rs917006091
|
|
|
NM_000168.6(GLI3):c.1943C>G (p.Pro648Arg)
|
|
|
|
NM_000168.6(GLI3):c.1949C>T (p.Pro650Leu)
|
|
|
|
NM_000168.6(GLI3):c.1954C>A (p.Pro652Thr)
|
|
|
|
NM_000168.6(GLI3):c.1968C>T (p.Ser656=)
|
|
|
|
NM_000168.6(GLI3):c.1973G>T (p.Ser658Ile)
|
|
|
|
NM_000168.6(GLI3):c.2000G>A (p.Arg667Gln)
|
|
|
|
NM_000168.6(GLI3):c.2003C>T (p.Pro668Leu)
|
|
|
|
NM_000168.6(GLI3):c.2044A>G (p.Thr682Ala)
|
|
|
|
NM_000168.6(GLI3):c.2046T>C (p.Thr682=)
|
|
|
|
NM_000168.6(GLI3):c.2048C>T (p.Thr683Ile)
|
rs979364849
|
|
|
NM_000168.6(GLI3):c.2056C>T (p.Arg686Trp)
|
|
|
|
NM_000168.6(GLI3):c.2082C>T (p.Thr694=)
|
|
|
|
NM_000168.6(GLI3):c.2083G>A (p.Val695Ile)
|
rs199606102
|
|
|
NM_000168.6(GLI3):c.2083G>T (p.Val695Phe)
|
|
|
|
NM_000168.6(GLI3):c.2090del (p.Ala697fs)
|
rs2128709888
|
|
|
NM_000168.6(GLI3):c.2098C>T (p.Pro700Ser)
|
rs1583741492
|
|
|
NM_000168.6(GLI3):c.2103+5G>A
|
|
|
|
NM_000168.6(GLI3):c.2104-14C>G
|
|
|
|
NM_000168.6(GLI3):c.2144G>A (p.Ser715Asn)
|
|
|
|
NM_000168.6(GLI3):c.2146del (p.Gln716fs)
|
|
|
|
NM_000168.6(GLI3):c.2163C>T (p.Ser721=)
|
|
|
|
NM_000168.6(GLI3):c.2181G>C (p.Gly727=)
|
|
|
|
NM_000168.6(GLI3):c.2189T>G (p.Leu730Arg)
|
rs375779498
|
|
|
NM_000168.6(GLI3):c.2232C>A (p.Ile744=)
|
rs772276953
|
|
|
NM_000168.6(GLI3):c.2257A>G (p.Thr753Ala)
|
|
|
|
NM_000168.6(GLI3):c.2264C>T (p.Ser755Phe)
|
|
|
|
NM_000168.6(GLI3):c.229A>G (p.Thr77Ala)
|
|
|
|
NM_000168.6(GLI3):c.2300G>A (p.Arg767Lys)
|
|
|
|
NM_000168.6(GLI3):c.2308G>T (p.Ala770Ser)
|
rs1355649064
|
|
|
NM_000168.6(GLI3):c.2326G>A (p.Glu776Lys)
|
|
|
|
NM_000168.6(GLI3):c.2328G>A (p.Glu776=)
|
|
|
|
NM_000168.6(GLI3):c.2329C>T (p.His777Tyr)
|
|
|
|
NM_000168.6(GLI3):c.2331C>T (p.His777=)
|
rs1057524835
|
|
|
NM_000168.6(GLI3):c.2332G>A (p.Val778Ile)
|
|
|
|
NM_000168.6(GLI3):c.235A>T (p.Ser79Cys)
|
|
|
|
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)
|
rs121917714
|
|
|
NM_000168.6(GLI3):c.2377C>T (p.Leu793=)
|
|
|
|
NM_000168.6(GLI3):c.2382C>A (p.Asn794Lys)
|
|
|
|
NM_000168.6(GLI3):c.2386A>C (p.Ile796Leu)
|
|
|
|
NM_000168.6(GLI3):c.2386A>G (p.Ile796Val)
|
|
|
|
NM_000168.6(GLI3):c.2390T>C (p.Leu797Pro)
|
|
|
|
NM_000168.6(GLI3):c.2395C>A (p.Pro799Thr)
|
|
|
|
NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)
|
|
|
|
NM_000168.6(GLI3):c.2408C>T (p.Ala803Val)
|
|
|
|
NM_000168.6(GLI3):c.2416C>T (p.Pro806Ser)
|
|
|
|
NM_000168.6(GLI3):c.2432-17C>T
|
|
|
|
NM_000168.6(GLI3):c.2432-1G>A
|
rs2128706417
|
|
|
NM_000168.6(GLI3):c.2434A>T (p.Thr812Ser)
|
|
|
|
NM_000168.6(GLI3):c.2445C>A (p.Asn815Lys)
|
|
|
|
NM_000168.6(GLI3):c.245_299del (p.Arg82fs)
|
|
|
|
NM_000168.6(GLI3):c.2486G>T (p.Gly829Val)
|
|
|
|
NM_000168.6(GLI3):c.2501C>G (p.Ser834Cys)
|
|
|
|
NM_000168.6(GLI3):c.2506G>A (p.Val836Met)
|
|
|
|
NM_000168.6(GLI3):c.2550C>T (p.Ser850=)
|
|
|
|
NM_000168.6(GLI3):c.2587C>T (p.Arg863Cys)
|
|
|
|
NM_000168.6(GLI3):c.2593_2628dup (p.Ser877_Glu878insGlyIleSerProCysPheSerSerArgArgSerSer)
|
|
|
|
NM_000168.6(GLI3):c.2604G>A (p.Ser868=)
|
rs758273867
|
|
|
NM_000168.6(GLI3):c.2604G>C (p.Ser868=)
|
rs758273867
|
|
|
NM_000168.6(GLI3):c.2605C>T (p.Pro869Ser)
|
rs1787187656
|
|
|
NM_000168.6(GLI3):c.2608T>G (p.Cys870Gly)
|
|
|
|
NM_000168.6(GLI3):c.2610C>T (p.Cys870=)
|
|
|
|
NM_000168.6(GLI3):c.2623del (p.Arg875fs)
|
|
|
|
NM_000168.6(GLI3):c.2624G>A (p.Arg875His)
|
|
|
|
NM_000168.6(GLI3):c.263A>G (p.Lys88Arg)
|
|
|
|
NM_000168.6(GLI3):c.2653C>T (p.Arg885Trp)
|
|
|
|
NM_000168.6(GLI3):c.2659C>A (p.Gln887Lys)
|
|
|
|
NM_000168.6(GLI3):c.26C>T (p.Thr9Met)
|
|
|
|
NM_000168.6(GLI3):c.2711G>A (p.Arg904His)
|
|
|
|
NM_000168.6(GLI3):c.2714G>C (p.Arg905Pro)
|
|
|
|
NM_000168.6(GLI3):c.2719A>T (p.Ser907Cys)
|
|
|
|
NM_000168.6(GLI3):c.2720del (p.Ser907fs)
|
rs1787182897
|
|
|
NM_000168.6(GLI3):c.2737G>A (p.Asp913Asn)
|
|
|
|
NM_000168.6(GLI3):c.2740_2748dup (p.Gly914_Pro916dup)
|
rs752866793
|
|
|
NM_000168.6(GLI3):c.2745G>A (p.Leu915=)
|
|
|
|
NM_000168.6(GLI3):c.2772C>G (p.Ala924=)
|
|
|
|
NM_000168.6(GLI3):c.2784C>T (p.Arg928=)
|
|
|
|
NM_000168.6(GLI3):c.2803G>A (p.Ala935Thr)
|
|
|
|
NM_000168.6(GLI3):c.2826G>C (p.Pro942=)
|
rs34245321
|
|
|
NM_000168.6(GLI3):c.2826G>T (p.Pro942=)
|
rs34245321
|
|
|
NM_000168.6(GLI3):c.2828C>T (p.Thr943Met)
|
|
|
|
NM_000168.6(GLI3):c.2833C>A (p.Leu945Met)
|
|
|
|
NM_000168.6(GLI3):c.2844G>A (p.Met948Ile)
|
|
|
|
NM_000168.6(GLI3):c.2862G>T (p.Lys954Asn)
|
|
|
|
NM_000168.6(GLI3):c.2884G>C (p.Asp962His)
|
|
|
|
NM_000168.6(GLI3):c.2928G>T (p.Pro976=)
|
rs767210981
|
|
|
NM_000168.6(GLI3):c.293C>T (p.Ala98Val)
|
|
|
|
NM_000168.6(GLI3):c.2944G>A (p.Gly982Arg)
|
rs751382968
|
|
|
NM_000168.6(GLI3):c.2950G>A (p.Ala984Thr)
|
|
|
|
NM_000168.6(GLI3):c.2957G>A (p.Gly986Asp)
|
|
|
|
NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter)
|
|
|
|
NM_000168.6(GLI3):c.2961C>T (p.Tyr987=)
|
|
|
|
NM_000168.6(GLI3):c.2962G>A (p.Gly988Arg)
|
|
|
|
NM_000168.6(GLI3):c.2965C>T (p.Arg989Trp)
|
|
|
|
NM_000168.6(GLI3):c.2970C>T (p.Arg990=)
|
|
|
|
NM_000168.6(GLI3):c.2973C>G (p.His991Gln)
|
|
|
|
NM_000168.6(GLI3):c.2974C>G (p.Leu992Val)
|
|
|
|
NM_000168.6(GLI3):c.2985C>A (p.His995Gln)
|
|
|
|
NM_000168.6(GLI3):c.2991G>A (p.Ala997=)
|
|
|
|
NM_000168.6(GLI3):c.2991G>T (p.Ala997=)
|
|
|
|
NM_000168.6(GLI3):c.2993C>G (p.Pro998Arg)
|
|
|
|
NM_000168.6(GLI3):c.3000C>T (p.His1000=)
|
|
|
|
NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser)
|
rs202182779
|
|
|
NM_000168.6(GLI3):c.3003C>T (p.Gly1001=)
|
|
|
|
NM_000168.6(GLI3):c.3024G>A (p.Pro1008=)
|
rs753894499
|
|
|
NM_000168.6(GLI3):c.3040G>C (p.Glu1014Gln)
|
rs373643864
|
|
|
NM_000168.6(GLI3):c.3078C>G (p.Ser1026Arg)
|
rs1436522227
|
|
|
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile)
|
rs886043721
|
|
|
NM_000168.6(GLI3):c.308C>T (p.Pro103Leu)
|
|
|
|
NM_000168.6(GLI3):c.3092A>G (p.Asn1031Ser)
|
|
|
|
NM_000168.6(GLI3):c.3097C>A (p.Pro1033Thr)
|
|
|
|
NM_000168.6(GLI3):c.3098C>A (p.Pro1033Gln)
|
rs376956433
|
|
|
NM_000168.6(GLI3):c.3099G>A (p.Pro1033=)
|
|
|
|
NM_000168.6(GLI3):c.3100G>A (p.Ala1034Thr)
|
|
|
|
NM_000168.6(GLI3):c.3102G>T (p.Ala1034=)
|
|
|
|
NM_000168.6(GLI3):c.3109A>G (p.Thr1037Ala)
|
|
|
|
NM_000168.6(GLI3):c.3110C>A (p.Thr1037Lys)
|
|
|
|
NM_000168.6(GLI3):c.3114C>T (p.Ser1038=)
|
|
|
|
NM_000168.6(GLI3):c.3115G>A (p.Ala1039Thr)
|
rs770430876
|
|
|
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys)
|
rs772839719
|
|
|
NM_000168.6(GLI3):c.3132C>G (p.Leu1044=)
|
|
|
|
NM_000168.6(GLI3):c.3133G>C (p.Val1045Leu)
|
|
|
|
NM_000168.6(GLI3):c.3147C>A (p.Tyr1049Ter)
|
|
|
|
NM_000168.6(GLI3):c.3150G>A (p.Thr1050=)
|
|
|
|
NM_000168.6(GLI3):c.3155C>G (p.Pro1052Arg)
|
rs2128705843
|
|
|
NM_000168.6(GLI3):c.3160G>A (p.Gly1054Ser)
|
|
|
|
NM_000168.6(GLI3):c.319A>G (p.Thr107Ala)
|
|
|
|
NM_000168.6(GLI3):c.3210C>A (p.Thr1070=)
|
|
|
|
NM_000168.6(GLI3):c.3254A>G (p.Asn1085Ser)
|
|
|
|
NM_000168.6(GLI3):c.3273C>T (p.Phe1091=)
|
|
|
|
NM_000168.6(GLI3):c.3283G>A (p.Asp1095Asn)
|
|
|
|
NM_000168.6(GLI3):c.3285C>T (p.Asp1095=)
|
|
|
|
NM_000168.6(GLI3):c.3286G>A (p.Val1096Met)
|
|
|
|
NM_000168.6(GLI3):c.3305C>A (p.Ser1102Tyr)
|
|
|
|
NM_000168.6(GLI3):c.3318A>C (p.Ala1106=)
|
|
|
|
NM_000168.6(GLI3):c.331A>T (p.Met111Leu)
|
|
|
|
NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)
|
rs116840766
|
|
|
NM_000168.6(GLI3):c.3324C>T (p.Tyr1108=)
|
|
|
|
NM_000168.6(GLI3):c.3349C>T (p.Pro1117Ser)
|
|
|
|
NM_000168.6(GLI3):c.3358A>G (p.Ser1120Gly)
|
rs1787150460
|
|
|
NM_000168.6(GLI3):c.3362_3363delinsCG (p.Lys1121Thr)
|
rs1787150394
|
|
|
NM_000168.6(GLI3):c.3363A>G (p.Lys1121=)
|
|
|
|
NM_000168.6(GLI3):c.3365_3366del (p.Val1122fs)
|
rs2128705693
|
|
|
NM_000168.6(GLI3):c.3368C>T (p.Pro1123Leu)
|
|
|
|
NM_000168.6(GLI3):c.3372C>T (p.His1124=)
|
rs542238121
|
|
|
NM_000168.6(GLI3):c.3373G>C (p.Gly1125Arg)
|
rs772233504
|
|
|
NM_000168.6(GLI3):c.3374G>A (p.Gly1125Glu)
|
|
|
|
NM_000168.6(GLI3):c.3378C>T (p.Pro1126=)
|
|
|
|
NM_000168.6(GLI3):c.3383A>G (p.Asp1128Gly)
|
|
|
|
NM_000168.6(GLI3):c.3392_3397del (p.Ala1131_Pro1132del)
|
rs1787148453
|
|
|
NM_000168.6(GLI3):c.3396C>T (p.Pro1132=)
|
|
|
|
NM_000168.6(GLI3):c.3405A>G (p.Pro1135=)
|
|
|
|
NM_000168.6(GLI3):c.3405A>T (p.Pro1135=)
|
rs1562658413
|
|
|
NM_000168.6(GLI3):c.3411C>A (p.Ser1137Arg)
|
|
|
|
NM_000168.6(GLI3):c.3437_3453del (p.Leu1146fs)
|
rs2128705618
|
|
|
NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter)
|
|
|
|
NM_000168.6(GLI3):c.3454del (p.Glu1152fs)
|
rs1787146494
|
|
|
NM_000168.6(GLI3):c.3466A>G (p.Thr1156Ala)
|
|
|
|
NM_000168.6(GLI3):c.3477del (p.Ile1160fs)
|
|
|
|
NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter)
|
rs116840770
|
|
|
NM_000168.6(GLI3):c.3514C>T (p.Leu1172=)
|
|
|
|
NM_000168.6(GLI3):c.3517TCC[2] (p.Ser1175del)
|
|
|
|
NM_000168.6(GLI3):c.3522C>T (p.Ser1174=)
|
|
|
|
NM_000168.6(GLI3):c.3534G>C (p.Lys1178Asn)
|
|
|
|
NM_000168.6(GLI3):c.3539G>C (p.Gly1180Ala)
|
|
|
|
NM_000168.6(GLI3):c.3548C>T (p.Pro1183Leu)
|
|
|
|
NM_000168.6(GLI3):c.3549C>T (p.Pro1183=)
|
|
|
|
NM_000168.6(GLI3):c.3557C>G (p.Pro1186Arg)
|
|
|
|
NM_000168.6(GLI3):c.3569C>T (p.Ala1190Val)
|
|
|
|
NM_000168.6(GLI3):c.3579C>T (p.Phe1193=)
|
rs1583729785
|
|
|
NM_000168.6(GLI3):c.3609C>T (p.Asn1203=)
|
|
|
|
NM_000168.6(GLI3):c.3611C>T (p.Pro1204Leu)
|
|
|
|
NM_000168.6(GLI3):c.3620_3621delinsAA (p.Ser1207Lys)
|
|
|
|
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp)
|
rs369440387
|
|
|
NM_000168.6(GLI3):c.3630T>C (p.Ala1210=)
|
|
|
|
NM_000168.6(GLI3):c.3635G>A (p.Gly1212Asp)
|
|
|
|
NM_000168.6(GLI3):c.3647_3665del (p.Leu1216fs)
|
|
|
|
NM_000168.6(GLI3):c.367+16A>C
|
|
|
|
NM_000168.6(GLI3):c.367+19C>T
|
|
|
|
NM_000168.6(GLI3):c.367+1G>A
|
|
|
|
NM_000168.6(GLI3):c.3670G>A (p.Gly1224Ser)
|
rs772438444
|
|
|
NM_000168.6(GLI3):c.368-1G>C
|
|
|
|
NM_000168.6(GLI3):c.368-2A>C
|
|
|
|
NM_000168.6(GLI3):c.368-3C>T
|
|
|
|
NM_000168.6(GLI3):c.3698A>G (p.Asn1233Ser)
|
|
|
|
NM_000168.6(GLI3):c.3712G>A (p.Gly1238Ser)
|
|
|
|
NM_000168.6(GLI3):c.3761A>G (p.Tyr1254Cys)
|
|
|
|
NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter)
|
rs148043302
|
|
|
NM_000168.6(GLI3):c.3765G>A (p.Gly1255=)
|
|
|
|
NM_000168.6(GLI3):c.3768C>T (p.Asn1256=)
|
rs1583729202
|
|
|
NM_000168.6(GLI3):c.3780G>A (p.Arg1260=)
|
rs374477953
|
|
|
NM_000168.6(GLI3):c.3784_3787dup (p.Val1263fs)
|
rs1787131313
|
|
|
NM_000168.6(GLI3):c.3818G>T (p.Gly1273Val)
|
|
|
|
NM_000168.6(GLI3):c.3853C>T (p.Pro1285Ser)
|
|
|
|
NM_000168.6(GLI3):c.3857T>G (p.Met1286Arg)
|
rs1787128835
|
|
|
NM_000168.6(GLI3):c.3859C>G (p.Gln1287Glu)
|
|
|
|
NM_000168.6(GLI3):c.3874del (p.Gln1292fs)
|
rs1787127981
|
|
|
NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val)
|
rs1476153727
|
|
|
NM_000168.6(GLI3):c.3877C>T (p.Leu1293=)
|
|
|
|
NM_000168.6(GLI3):c.3892C>G (p.Pro1298Ala)
|
|
|
|
NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs)
|
rs1562657560
|
|
|
NM_000168.6(GLI3):c.3917G>A (p.Gly1306Asp)
|
|
|
|
NM_000168.6(GLI3):c.3946G>A (p.Asp1316Asn)
|
|
|
|
NM_000168.6(GLI3):c.3946G>C (p.Asp1316His)
|
|
|
|
NM_000168.6(GLI3):c.3956dup (p.Gln1320fs)
|
rs2128705204
|
|
|
NM_000168.6(GLI3):c.3957A>G (p.Gly1319=)
|
|
|
|
NM_000168.6(GLI3):c.3961G>T (p.Gly1321Trp)
|
|
|
|
NM_000168.6(GLI3):c.3971C>G (p.Ala1324Gly)
|
|
|
|
NM_000168.6(GLI3):c.39_41del (p.Lys15del)
|
|
|
|
NM_000168.6(GLI3):c.4016G>A (p.Arg1339His)
|
|
|
|
NM_000168.6(GLI3):c.4017_4018insG (p.Pro1340fs)
|
|
|
|
NM_000168.6(GLI3):c.4020C>G (p.Pro1340=)
|
|
|
|
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=)
|
rs35139358
|
|
|
NM_000168.6(GLI3):c.4020del (p.Gly1341fs)
|
|
|
|
NM_000168.6(GLI3):c.4021G>T (p.Gly1341Cys)
|
|
|
|
NM_000168.6(GLI3):c.4029G>C (p.Gln1343His)
|
|
|
|
NM_000168.6(GLI3):c.4037G>A (p.Gly1346Glu)
|
|
|
|
NM_000168.6(GLI3):c.4043_4045del (p.Ile1348del)
|
|
|
|
NM_000168.6(GLI3):c.4064A>G (p.Asn1355Ser)
|
|
|
|
NM_000168.6(GLI3):c.4066A>T (p.Ile1356Phe)
|
|
|
|
NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)
|
|
|
|
NM_000168.6(GLI3):c.4095A>C (p.Pro1365=)
|
|
|
|
NM_000168.6(GLI3):c.4105G>A (p.Gly1369Ser)
|
|
|
|
NM_000168.6(GLI3):c.4144G>C (p.Gly1382Arg)
|
|
|
|
NM_000168.6(GLI3):c.4145G>T (p.Gly1382Val)
|
|
|
|
NM_000168.6(GLI3):c.4164C>T (p.Ser1388=)
|
|
|
|
NM_000168.6(GLI3):c.4165T>C (p.Phe1389Leu)
|
|
|
|
NM_000168.6(GLI3):c.4172del (p.Gly1391fs)
|
rs2128705042
|
|
|
NM_000168.6(GLI3):c.4181G>T (p.Arg1394Leu)
|
|
|
|
NM_000168.6(GLI3):c.4186G>C (p.Ala1396Pro)
|
|
|
|
NM_000168.6(GLI3):c.4189A>G (p.Met1397Val)
|
|
|
|
NM_000168.6(GLI3):c.4193C>T (p.Pro1398Leu)
|
|
|
|
NM_000168.6(GLI3):c.4220G>A (p.Gly1407Glu)
|
|
|
|
NM_000168.6(GLI3):c.4234A>G (p.Thr1412Ala)
|
|
|
|
NM_000168.6(GLI3):c.4234A>T (p.Thr1412Ser)
|
|
|
|
NM_000168.6(GLI3):c.4247G>T (p.Cys1416Phe)
|
|
|
|
NM_000168.6(GLI3):c.4267A>T (p.Met1423Leu)
|
|
|
|
NM_000168.6(GLI3):c.4283A>C (p.Gln1428Pro)
|
|
|
|
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu)
|
rs144128064
|
|
|
NM_000168.6(GLI3):c.4315del (p.Tyr1439fs)
|
|
|
|
NM_000168.6(GLI3):c.4316_4724del (p.Tyr1439fs)
|
rs1787098071
|
|
|
NM_000168.6(GLI3):c.4322_4326del (p.Gly1441fs)
|
|
|
|
NM_000168.6(GLI3):c.4331A>G (p.Tyr1444Cys)
|
|
|
|
NM_000168.6(GLI3):c.433C>T (p.Arg145Cys)
|
|
|
|
NM_000168.6(GLI3):c.4346G>A (p.Gly1449Asp)
|
|
|
|
NM_000168.6(GLI3):c.4353T>G (p.Ser1451Arg)
|
|
|
|
NM_000168.6(GLI3):c.4354C>T (p.Gln1452Ter)
|
|
|
|
NM_000168.6(GLI3):c.4362C>T (p.Asp1454=)
|
|
|
|
NM_000168.6(GLI3):c.4392C>A (p.Asp1464Glu)
|
|
|
|
NM_000168.6(GLI3):c.4392C>T (p.Asp1464=)
|
|
|
|
NM_000168.6(GLI3):c.4395del (p.Ser1466fs)
|
rs1554304380
|
|
|
NM_000168.6(GLI3):c.4409A>G (p.Gln1470Arg)
|
|
|
|
NM_000168.6(GLI3):c.4413del (p.Thr1472fs)
|
rs2128704887
|
|
|
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter)
|
rs1057520063
|
|
|
NM_000168.6(GLI3):c.4477A>G (p.Ser1493Gly)
|
|
|
|
NM_000168.6(GLI3):c.4483G>A (p.Asp1495Asn)
|
|
|
|
NM_000168.6(GLI3):c.448C>T (p.Pro150Ser)
|
|
|
|
NM_000168.6(GLI3):c.4495C>G (p.Leu1499Val)
|
|
|
|
NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter)
|
rs1562656759
|
|
|
NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter)
|
rs2128704828
|
|
|
NM_000168.6(GLI3):c.4510A>T (p.Ile1504Phe)
|
|
|
|
NM_000168.6(GLI3):c.4534G>C (p.Asp1512His)
|
|
|
|
NM_000168.6(GLI3):c.4543C>A (p.His1515Asn)
|
rs2128704805
|
|
|
NM_000168.6(GLI3):c.4559C>T (p.Ser1520Leu)
|
|
|
|
NM_000168.6(GLI3):c.455C>T (p.Pro152Leu)
|
|
|
|
NM_000168.6(GLI3):c.4564G>C (p.Ala1522Pro)
|
|
|
|
NM_000168.6(GLI3):c.4564G>T (p.Ala1522Ser)
|
rs758379697
|
|
|
NM_000168.6(GLI3):c.4567C>G (p.Leu1523Val)
|
|
|
|
NM_000168.6(GLI3):c.4574C>T (p.Pro1525Leu)
|
|
|
|
NM_000168.6(GLI3):c.4597C>A (p.His1533Asn)
|
rs1787103191
|
|
|
NM_000168.6(GLI3):c.4605C>T (p.Ser1535=)
|
|
|
|
NM_000168.6(GLI3):c.4610G>C (p.Arg1537Pro)
|
|
|
|
NM_000168.6(GLI3):c.4625G>A (p.Arg1542Gln)
|
rs1189345797
|
|
|
NM_000168.6(GLI3):c.4638A>G (p.Pro1546=)
|
rs1233172983
|
|
|
NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)
|
|
|
|
NM_000168.6(GLI3):c.4660A>G (p.Thr1554Ala)
|
|
|
|
NM_000168.6(GLI3):c.4675A>G (p.Ile1559Val)
|
rs1583727133
|
|
|
NM_000168.6(GLI3):c.4683C>G (p.Asp1561Glu)
|
|
|
|
NM_000168.6(GLI3):c.4698G>A (p.Leu1566=)
|
rs905011458
|
|
|
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val)
|
rs41305933
|
|
|
NM_000168.6(GLI3):c.4710G>A (p.Ala1570=)
|
|
|
|
NM_000168.6(GLI3):c.4712A>G (p.Glu1571Gly)
|
|
|
|
NM_000168.6(GLI3):c.473+5G>A
|
rs1784885465
|
|
|
NM_000168.6(GLI3):c.474-3C>T
|
|
|
|
NM_000168.6(GLI3):c.474-8G>T
|
rs2128742744
|
|
|
NM_000168.6(GLI3):c.487T>C (p.Ser163Pro)
|
|
|
|
NM_000168.6(GLI3):c.522T>C (p.Ile174=)
|
|
|
|
NM_000168.6(GLI3):c.532C>A (p.Pro178Thr)
|
|
|
|
NM_000168.6(GLI3):c.533dup (p.His179fs)
|
|
|
|
NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)
|
|
|
|
NM_000168.6(GLI3):c.548del (p.Thr183fs)
|
|
|
|
NM_000168.6(GLI3):c.558del (p.Glu187fs)
|
|
|
|
NM_000168.6(GLI3):c.575C>T (p.Pro192Leu)
|
|
|
|
NM_000168.6(GLI3):c.585C>T (p.Pro195=)
|
|
|
|
NM_000168.6(GLI3):c.600_601dup (p.Met201fs)
|
|
|
|
NM_000168.6(GLI3):c.602_675del (p.Met201fs)
|
rs2128742642
|
|
|
NM_000168.6(GLI3):c.614G>A (p.Arg205His)
|
|
|
|
NM_000168.6(GLI3):c.618C>T (p.Ser206=)
|
|
|
|
NM_000168.6(GLI3):c.636G>T (p.Ser212=)
|
rs369422937
|
|
|
NM_000168.6(GLI3):c.642C>G (p.Ser214=)
|
|
|
|
NM_000168.6(GLI3):c.661G>T (p.Gly221Trp)
|
|
|
|
NM_000168.6(GLI3):c.667_668del (p.Ser223fs)
|
|
|
|
NM_000168.6(GLI3):c.674C>T (p.Thr225Ile)
|
|
|
|
NM_000168.6(GLI3):c.679+9A>G
|
|
|
|
NM_000168.6(GLI3):c.680-20C>T
|
|
|
|
NM_000168.6(GLI3):c.680-5C>T
|
|
|
|
NM_000168.6(GLI3):c.698G>A (p.Ser233Asn)
|
rs1182112270
|
|
|
NM_000168.6(GLI3):c.699C>T (p.Ser233=)
|
rs2128741271
|
|
|
NM_000168.6(GLI3):c.712T>C (p.Tyr238His)
|
|
|
|
NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter)
|
rs1583505882
|
|
|
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly)
|
rs565817241
|
|
|
NM_000168.6(GLI3):c.802A>G (p.Met268Val)
|
|
|
|
NM_000168.6(GLI3):c.826+10G>A
|
|
|
|
NM_000168.6(GLI3):c.827-15T>C
|
|
|
|
NM_000168.6(GLI3):c.827-19dup
|
rs200073401
|
|
|
NM_000168.6(GLI3):c.827-2A>G
|
rs2128738764
|
|
|
NM_000168.6(GLI3):c.830C>A (p.Thr277Asn)
|
|
|
|
NM_000168.6(GLI3):c.836dup (p.Ser280fs)
|
|
|
|
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)
|
rs121917713
|
|
|
NM_000168.6(GLI3):c.877_881del (p.Thr293fs)
|
rs1784103216
|
|
|
NM_000168.6(GLI3):c.885del (p.Ile296fs)
|
rs1784103136
|
|
|
NM_000168.6(GLI3):c.905A>G (p.His302Arg)
|
|
|
|
NM_000168.6(GLI3):c.90C>T (p.Ser30=)
|
|
|
|
NM_000168.6(GLI3):c.91G>T (p.Glu31Ter)
|
rs1788520333
|
|
|
NM_000168.6(GLI3):c.925A>G (p.Met309Val)
|
|
|
|
NM_000168.6(GLI3):c.936G>A (p.Thr312=)
|
|
|
|
NM_000168.6(GLI3):c.936G>T (p.Thr312=)
|
rs200965295
|
|
|
NM_000168.6(GLI3):c.956C>T (p.Thr319Met)
|
|
|
|
NM_000346.4(SOX9):c.1018C>T (p.Gln340Ter)
|
rs1339655148
|
|
|
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup)
|
rs776337541
|
|
|
NM_000346.4(SOX9):c.1025C>T (p.Pro342Leu)
|
|
|
|
NM_000346.4(SOX9):c.1045C>A (p.Pro349Thr)
|
|
|
|
NM_000346.4(SOX9):c.1053G>A (p.Gln351=)
|
|
|
|
NM_000346.4(SOX9):c.1058C>A (p.Pro353Gln)
|
rs762041707
|
|
|
NM_000346.4(SOX9):c.1060C>T (p.Pro354Ser)
|
|
|
|
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del)
|
rs761585795
|
|
|
NM_000346.4(SOX9):c.1061_1069dup (p.Pro356_Gln357insProAlaPro)
|
|
|
|
NM_000346.4(SOX9):c.1062G>A (p.Pro354=)
|
|
|
|
NM_000346.4(SOX9):c.1062G>C (p.Pro354=)
|
|
|
|
NM_000346.4(SOX9):c.1064C>T (p.Ala355Val)
|
|
|
|
NM_000346.4(SOX9):c.1067C>T (p.Pro356Leu)
|
|
|
|
NM_000346.4(SOX9):c.1068G>A (p.Pro356=)
|
|
|
|
NM_000346.4(SOX9):c.1072_1083dup (p.Gln361_Pro362insAlaProProGln)
|
|
|
|
NM_000346.4(SOX9):c.1074G>A (p.Ala358=)
|
rs763397660
|
|
|
NM_000346.4(SOX9):c.1076C>A (p.Pro359His)
|
rs1908196558
|
|
|
NM_000346.4(SOX9):c.1080G>A (p.Pro360=)
|
|
|
|
NM_000346.4(SOX9):c.1080_1100del (p.Pro362_Gln368del)
|
rs772713612
|
|
|
NM_000346.4(SOX9):c.1081C>A (p.Gln361Lys)
|
|
|
|
NM_000346.4(SOX9):c.108G>T (p.Pro36=)
|
|
|
|
NM_000346.4(SOX9):c.1096C>T (p.Pro366Ser)
|
|
|
|
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
|
|
|
|
NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1])
|
rs753262382
|
|
|
NM_000346.4(SOX9):c.1110G>A (p.Pro370=)
|
|
|
|
NM_000346.4(SOX9):c.1110_1130del (p.364AAPPQQP[1])
|
|
|
|
NM_000346.4(SOX9):c.1112C>T (p.Ala371Val)
|
|
|
|
NM_000346.4(SOX9):c.1116_1117del (p.Pro374fs)
|
rs2143254357
|
|
|
NM_000346.4(SOX9):c.1119C>T (p.Pro373=)
|
|
|
|
NM_000346.4(SOX9):c.111G>T (p.Ser37=)
|
rs1327415352
|
|
|
NM_000346.4(SOX9):c.1126C>G (p.Gln376Glu)
|
rs2143254472
|
|
|
NM_000346.4(SOX9):c.1143G>A (p.Thr381=)
|
|
|
|
NM_000346.4(SOX9):c.1143G>T (p.Thr381=)
|
|
|
|
NM_000346.4(SOX9):c.1146G>T (p.Leu382=)
|
|
|
|
NM_000346.4(SOX9):c.1148_1156del (p.Thr383_Leu385del)
|
|
|
|
NM_000346.4(SOX9):c.1180C>T (p.Arg394Ter)
|
rs1057518216
|
|
|
NM_000346.4(SOX9):c.1196C>T (p.Thr399Met)
|
|
|
|
NM_000346.4(SOX9):c.1212C>T (p.Pro404=)
|
rs749575769
|
|
|
NM_000346.4(SOX9):c.1224C>T (p.Ser408=)
|
|
|
|
NM_000346.4(SOX9):c.1227GCA[5] (p.Gln412_His413insGln)
|
|
|
|
NM_000346.4(SOX9):c.1242G>A (p.Ser414=)
|
|
|
|
NM_000346.4(SOX9):c.1255del (p.Ala419fs)
|
|
|
|
NM_000346.4(SOX9):c.1285A>G (p.Ser429Gly)
|
|
|
|
NM_000346.4(SOX9):c.1311C>T (p.Arg437=)
|
|
|
|
NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter)
|
rs80338688
|
|
|
NM_000346.4(SOX9):c.1353C>A (p.Tyr451Ter)
|
rs2143257122
|
|
|
NM_000346.4(SOX9):c.1358G>A (p.Ser453Asn)
|
|
|
|
NM_000346.4(SOX9):c.1381G>A (p.Gly461Ser)
|
|
|
|
NM_000346.4(SOX9):c.138G>A (p.Thr46=)
|
|
|
|
NM_000346.4(SOX9):c.1394C>G (p.Thr465Ser)
|
|
|
|
NM_000346.4(SOX9):c.1401C>A (p.Thr467=)
|
|
|
|
NM_000346.4(SOX9):c.140G>A (p.Arg47Gln)
|
|
|
|
NM_000346.4(SOX9):c.1419G>A (p.Gln473=)
|
|
|
|
NM_000346.4(SOX9):c.141G>A (p.Arg47=)
|
|
|
|
NM_000346.4(SOX9):c.1433C>T (p.Thr478Ile)
|
rs2143257987
|
|
|
NM_000346.4(SOX9):c.1435C>T (p.Pro479Ser)
|
|
|
|
NM_000346.4(SOX9):c.1437dup (p.Ile480fs)
|
|
|
|
NM_000346.4(SOX9):c.1440C>T (p.Ile480=)
|
|
|
|
NM_000346.4(SOX9):c.144C>G (p.Pro48=)
|
|
|
|
NM_000346.4(SOX9):c.1460C>T (p.Pro487Leu)
|
rs2143258440
|
|
|
NM_000346.4(SOX9):c.1470G>A (p.Pro490=)
|
rs772902383
|
|
|
NM_000346.4(SOX9):c.1470G>C (p.Pro490=)
|
|
|
|
NM_000346.4(SOX9):c.1482C>T (p.Ser494=)
|
rs189130850
|
|
|
NM_000346.4(SOX9):c.1488G>A (p.Gln496=)
|
rs2143258743
|
|
|
NM_000346.4(SOX9):c.1525C>T (p.Pro509Ser)
|
|
|
|
NM_000346.4(SOX9):c.156G>C (p.Thr52=)
|
rs747786977
|
|
|
NM_000346.4(SOX9):c.15C>G (p.Asp5Glu)
|
|
|
|
NM_000346.4(SOX9):c.16C>T (p.Pro6Ser)
|
|
|
|
NM_000346.4(SOX9):c.174C>T (p.Pro58=)
|
|
|
|
NM_000346.4(SOX9):c.201C>G (p.Asp67Glu)
|
|
|
|
NM_000346.4(SOX9):c.241C>G (p.Leu81Val)
|
|
|
|
NM_000346.4(SOX9):c.24G>A (p.Met8Ile)
|
|
|
|
NM_000346.4(SOX9):c.252C>G (p.Tyr84Ter)
|
rs1555629022
|
|
|
NM_000346.4(SOX9):c.253G>C (p.Asp85His)
|
|
|
|
NM_000346.4(SOX9):c.255_256del (p.Asp85fs)
|
rs2143239047
|
|
|
NM_000346.4(SOX9):c.268C>T (p.Pro90Ser)
|
|
|
|
NM_000346.4(SOX9):c.271_272del (p.Met91fs)
|
|
|
|
NM_000346.4(SOX9):c.273G>T (p.Met91Ile)
|
|
|
|
NM_000346.4(SOX9):c.276G>A (p.Pro92=)
|
rs139490970
|
|
|
NM_000346.4(SOX9):c.313G>T (p.Val105Phe)
|
rs2143239754
|
|
|
NM_000346.4(SOX9):c.334_335del (p.Phe112fs)
|
|
|
|
NM_000346.4(SOX9):c.336C>T (p.Phe112=)
|
|
|
|
NM_000346.4(SOX9):c.337A>G (p.Met113Val)
|
rs2143240089
|
|
|
NM_000346.4(SOX9):c.337A>T (p.Met113Leu)
|
|
|
|
NM_000346.4(SOX9):c.339G>A (p.Met113Ile)
|
rs2143240113
|
|
|
NM_000346.4(SOX9):c.340G>C (p.Val114Leu)
|
rs2143240123
|
|
|
NM_000346.4(SOX9):c.341T>C (p.Val114Ala)
|
|
|
|
NM_000346.4(SOX9):c.346G>A (p.Ala116Thr)
|
|
|
|
NM_000346.4(SOX9):c.347C>T (p.Ala116Val)
|
rs2143240212
|
|
|
NM_000346.4(SOX9):c.349C>T (p.Gln117Ter)
|
rs1555629037
|
|
|
NM_000346.4(SOX9):c.356C>A (p.Ala119Glu)
|
rs886043537
|
|
|
NM_000346.4(SOX9):c.359G>T (p.Arg120Leu)
|
rs2143240394
|
|
|
NM_000346.4(SOX9):c.372G>C (p.Ala124=)
|
rs745780363
|
|
|
NM_000346.4(SOX9):c.375C>G (p.Asp125Glu)
|
|
|
|
NM_000346.4(SOX9):c.419G>A (p.Gly140Asp)
|
rs2143241065
|
|
|
NM_000346.4(SOX9):c.431+12C>T
|
|
|
|
NM_000346.4(SOX9):c.431+17del
|
|
|
|
NM_000346.4(SOX9):c.431+8C>T
|
|
|
|
NM_000346.4(SOX9):c.431+9C>G
|
|
|
|
NM_000346.4(SOX9):c.431+9C>T
|
|
|
|
NM_000346.4(SOX9):c.432-10C>T
|
|
|
|
NM_000346.4(SOX9):c.432-2A>C
|
|
|
|
NM_000346.4(SOX9):c.432-2A>T
|
rs1908139210
|
|
|
NM_000346.4(SOX9):c.432-6del
|
|
|
|
NM_000346.4(SOX9):c.432-7C>G
|
|
|
|
NM_000346.4(SOX9):c.434T>A (p.Leu145His)
|
|
|
|
NM_000346.4(SOX9):c.436C>A (p.Leu146Met)
|
|
|
|
NM_000346.4(SOX9):c.436C>G (p.Leu146Val)
|
rs2143244977
|
|
|
NM_000346.4(SOX9):c.440A>C (p.Asn147Thr)
|
|
|
|
NM_000346.4(SOX9):c.441C>T (p.Asn147=)
|
|
|
|
NM_000346.4(SOX9):c.442G>C (p.Glu148Gln)
|
|
|
|
NM_000346.4(SOX9):c.454C>A (p.Arg152=)
|
rs1908140265
|
|
|
NM_000346.4(SOX9):c.455G>C (p.Arg152Pro)
|
|
|
|
NM_000346.4(SOX9):c.472G>A (p.Ala158Thr)
|
rs137853130
|
|
|
NM_000346.4(SOX9):c.473C>T (p.Ala158Val)
|
rs2143245422
|
|
|
NM_000346.4(SOX9):c.484C>T (p.Arg162Cys)
|
|
|
|
NM_000346.4(SOX9):c.486C>G (p.Arg162=)
|
|
|
|
NM_000346.4(SOX9):c.502G>T (p.Asp168Tyr)
|
rs2143245759
|
|
|
NM_000346.4(SOX9):c.504C>T (p.Asp168=)
|
|
|
|
NM_000346.4(SOX9):c.507C>G (p.His169Gln)
|
rs2229989
|
|
|
NM_000346.4(SOX9):c.507_508delinsTA (p.Pro170Thr)
|
|
|
|
NM_000346.4(SOX9):c.508C>A (p.Pro170Thr)
|
rs866706988
|
|
|
NM_000346.4(SOX9):c.508C>G (p.Pro170Ala)
|
rs866706988
|
|
|
NM_000346.4(SOX9):c.508C>T (p.Pro170Ser)
|
rs866706988
|
|
|
NM_000346.4(SOX9):c.509C>G (p.Pro170Arg)
|
|
|
|
NM_000346.4(SOX9):c.515A>T (p.Tyr172Phe)
|
|
|
|
NM_000346.4(SOX9):c.517A>G (p.Lys173Glu)
|
rs104894647
|
|
|
NM_000346.4(SOX9):c.522C>T (p.Tyr174=)
|
|
|
|
NM_000346.4(SOX9):c.527C>G (p.Pro176Arg)
|
rs1555629170
|
|
|
NM_000346.4(SOX9):c.527C>T (p.Pro176Leu)
|
rs1555629170
|
|
|
NM_000346.4(SOX9):c.528G>A (p.Pro176=)
|
|
|
|
NM_000346.4(SOX9):c.528G>T (p.Pro176=)
|
|
|
|
NM_000346.4(SOX9):c.53T>C (p.Leu18Pro)
|
|
|
|
NM_000346.4(SOX9):c.546G>C (p.Val182=)
|
|
|
|
NM_000346.4(SOX9):c.555G>A (p.Gly185=)
|
|
|
|
NM_000346.4(SOX9):c.55T>A (p.Ser19Thr)
|
rs1908086972
|
|
|
NM_000346.4(SOX9):c.56C>T (p.Ser19Phe)
|
|
|
|
NM_000346.4(SOX9):c.592A>G (p.Ile198Val)
|
|
|
|
NM_000346.4(SOX9):c.592A>T (p.Ile198Phe)
|
|
|
|
NM_000346.4(SOX9):c.593T>A (p.Ile198Asn)
|
|
|
|
NM_000346.4(SOX9):c.596C>T (p.Ser199Phe)
|
rs762685531
|
|
|
NM_000346.4(SOX9):c.600dup (p.Asn201fs)
|
rs2143246628
|
|
|
NM_000346.4(SOX9):c.605C>G (p.Ala202Gly)
|
rs2143246698
|
|
|
NM_000346.4(SOX9):c.607A>T (p.Ile203Phe)
|
|
|
|
NM_000346.4(SOX9):c.608T>A (p.Ile203Asn)
|
|
|
|
NM_000346.4(SOX9):c.610T>C (p.Phe204Leu)
|
|
|
|
NM_000346.4(SOX9):c.610T>G (p.Phe204Val)
|
|
|
|
NM_000346.4(SOX9):c.629A>G (p.Asp210Gly)
|
|
|
|
NM_000346.4(SOX9):c.632C>T (p.Ser211Leu)
|
|
|
|
NM_000346.4(SOX9):c.633G>A (p.Ser211=)
|
|
|
|
NM_000346.4(SOX9):c.640TCC[2] (p.Ser216del)
|
|
|
|
NM_000346.4(SOX9):c.649G>A (p.Gly217Ser)
|
|
|
|
NM_000346.4(SOX9):c.658G>A (p.Glu220Lys)
|
|
|
|
NM_000346.4(SOX9):c.672C>T (p.Pro224=)
|
|
|
|
NM_000346.4(SOX9):c.673G>A (p.Gly225Ser)
|
|
|
|
NM_000346.4(SOX9):c.676G>A (p.Glu226Lys)
|
|
|
|
NM_000346.4(SOX9):c.681C>T (p.His227=)
|
|
|
|
NM_000346.4(SOX9):c.683C>A (p.Ser228Ter)
|
|
|
|
NM_000346.4(SOX9):c.684G>T (p.Ser228=)
|
|
|
|
NM_000346.4(SOX9):c.685+1G>A
|
|
|
|
NM_000346.4(SOX9):c.685+2T>C
|
|
|
|
NM_000346.4(SOX9):c.685+4dup
|
|
|
|
NM_000346.4(SOX9):c.685+7_685+8delinsTA
|
|
|
|
NM_000346.4(SOX9):c.686-16C>T
|
|
|
|
NM_000346.4(SOX9):c.686-3C>T
|
|
|
|
NM_000346.4(SOX9):c.704C>T (p.Pro235Leu)
|
rs984877127
|
|
|
NM_000346.4(SOX9):c.714C>G (p.Pro238=)
|
rs368191855
|
|
|
NM_000346.4(SOX9):c.740C>T (p.Pro247Leu)
|
|
|
|
NM_000346.4(SOX9):c.755T>C (p.Leu252Pro)
|
|
|
|
NM_000346.4(SOX9):c.760C>T (p.Arg254Ter)
|
|
|
|
NM_000346.4(SOX9):c.765G>A (p.Glu255=)
|
|
|
|
NM_000346.4(SOX9):c.772C>T (p.Pro258Ser)
|
|
|
|
NM_000346.4(SOX9):c.77T>A (p.Met26Lys)
|
|
|
|
NM_000346.4(SOX9):c.782A>C (p.Glu261Ala)
|
|
|
|
NM_000346.4(SOX9):c.783G>C (p.Glu261Asp)
|
rs751690259
|
|
|
NM_000346.4(SOX9):c.785G>T (p.Gly262Val)
|
|
|
|
NM_000346.4(SOX9):c.788G>T (p.Gly263Val)
|
|
|
|
NM_000346.4(SOX9):c.788dup (p.Arg264fs)
|
rs1274036689
|
|
|
NM_000346.4(SOX9):c.797C>T (p.Pro266Leu)
|
|
|
|
NM_000346.4(SOX9):c.80C>A (p.Ser27Tyr)
|
|
|
|
NM_000346.4(SOX9):c.811C>G (p.Arg271Gly)
|
|
|
|
NM_000346.4(SOX9):c.813C>A (p.Arg271=)
|
rs1908181707
|
|
|
NM_000346.4(SOX9):c.816C>T (p.Asp272=)
|
|
|
|
NM_000346.4(SOX9):c.81C>G (p.Ser27=)
|
|
|
|
NM_000346.4(SOX9):c.844G>A (p.Val282Ile)
|
rs2143251516
|
|
|
NM_000346.4(SOX9):c.863C>A (p.Thr288Asn)
|
|
|
|
NM_000346.4(SOX9):c.868G>C (p.Asp290His)
|
|
|
|
NM_000346.4(SOX9):c.875A>C (p.Asn292Thr)
|
|
|
|
NM_000346.4(SOX9):c.897G>C (p.Pro299=)
|
|
|
|
NM_000346.4(SOX9):c.902A>G (p.Asn301Ser)
|
|
|
|
NM_000346.4(SOX9):c.903C>T (p.Asn301=)
|
|
|
|
NM_000346.4(SOX9):c.920C>T (p.Pro307Leu)
|
|
|
|
NM_000346.4(SOX9):c.935A>G (p.Gln312Arg)
|
rs1908187199
|
|
|
NM_000346.4(SOX9):c.944dup (p.Tyr315Ter)
|
|
|
|
NM_000346.4(SOX9):c.947C>T (p.Thr316Met)
|
|
|
|
NM_000346.4(SOX9):c.950G>A (p.Gly317Asp)
|
|
|
|
NM_000346.4(SOX9):c.958G>A (p.Gly320Ser)
|
|
|
|
NM_000346.4(SOX9):c.971C>T (p.Thr324Ile)
|
|
|
|
NM_000346.4(SOX9):c.972C>T (p.Thr324=)
|
rs994026508
|
|
|
NM_000346.4(SOX9):c.975G>A (p.Ala325=)
|
|
|
|
NM_000346.4(SOX9):c.989G>C (p.Ser330Thr)
|
|
|
|
NM_000346.4(SOX9):c.9C>G (p.Leu3=)
|
|
|
|
NM_001271938.2(MEGF8):c.1005A>G (p.Ala335=)
|
rs2039124115
|
|
|
NM_001271938.2(MEGF8):c.1010A>C (p.His337Pro)
|
|
|
|
NM_001271938.2(MEGF8):c.1014G>A (p.Ala338=)
|
|
|
|
NM_001271938.2(MEGF8):c.1028A>G (p.Asp343Gly)
|
|
|
|
NM_001271938.2(MEGF8):c.1031A>G (p.Asp344Gly)
|
|
|
|
NM_001271938.2(MEGF8):c.1085G>T (p.Gly362Val)
|
|
|
|
NM_001271938.2(MEGF8):c.1117G>A (p.Gly373Arg)
|
|
|
|
NM_001271938.2(MEGF8):c.112C>T (p.Arg38Trp)
|
|
|
|
NM_001271938.2(MEGF8):c.1137G>C (p.Val379=)
|
rs1219090266
|
|
|
NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)
|
|
|
|
NM_001271938.2(MEGF8):c.1158C>G (p.Pro386=)
|
|
|
|
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=)
|
rs149190709
|
|
|
NM_001271938.2(MEGF8):c.1225C>T (p.His409Tyr)
|
|
|
|
NM_001271938.2(MEGF8):c.1243C>G (p.Arg415Gly)
|
|
|
|
NM_001271938.2(MEGF8):c.1244+19A>T
|
|
|
|
NM_001271938.2(MEGF8):c.1245-11T>G
|
|
|
|
NM_001271938.2(MEGF8):c.1245-9_1245-8del
|
|
|
|
NM_001271938.2(MEGF8):c.1282G>A (p.Val428Met)
|
|
|
|
NM_001271938.2(MEGF8):c.1304C>T (p.Thr435Met)
|
|
|
|
NM_001271938.2(MEGF8):c.1343G>A (p.Arg448Gln)
|
|
|
|
NM_001271938.2(MEGF8):c.1378A>G (p.Met460Val)
|
rs764773192
|
|
|
NM_001271938.2(MEGF8):c.1497G>A (p.Pro499=)
|
|
|
|
NM_001271938.2(MEGF8):c.1557G>A (p.Ala519=)
|
|
|
|
NM_001271938.2(MEGF8):c.1613G>A (p.Gly538Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.1638C>T (p.Pro546=)
|
|
|
|
NM_001271938.2(MEGF8):c.1669-8C>T
|
|
|
|
NM_001271938.2(MEGF8):c.1706G>A (p.Ser569Asn)
|
|
|
|
NM_001271938.2(MEGF8):c.1707C>G (p.Ser569Arg)
|
|
|
|
NM_001271938.2(MEGF8):c.172G>A (p.Glu58Lys)
|
|
|
|
NM_001271938.2(MEGF8):c.1784_1788+3del
|
|
|
|
NM_001271938.2(MEGF8):c.1797C>T (p.Ala599=)
|
rs749153853
|
|
|
NM_001271938.2(MEGF8):c.1850C>T (p.Ala617Val)
|
|
|
|
NM_001271938.2(MEGF8):c.1914G>A (p.Glu638=)
|
|
|
|
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe)
|
rs1555781030
|
|
|
NM_001271938.2(MEGF8):c.1934-12C>G
|
rs2147465024
|
|
|
NM_001271938.2(MEGF8):c.1934-21_1934-18del
|
rs2039263296
|
|
|
NM_001271938.2(MEGF8):c.1934-6T>G
|
|
|
|
NM_001271938.2(MEGF8):c.1949G>A (p.Arg650Gln)
|
|
|
|
NM_001271938.2(MEGF8):c.1969A>G (p.Thr657Ala)
|
rs2039264644
|
|
|
NM_001271938.2(MEGF8):c.2073G>A (p.Pro691=)
|
|
|
|
NM_001271938.2(MEGF8):c.2097+14G>A
|
|
|
|
NM_001271938.2(MEGF8):c.2299-15_2299-12del
|
rs141582110
|
|
|
NM_001271938.2(MEGF8):c.2321C>T (p.Ala774Val)
|
|
|
|
NM_001271938.2(MEGF8):c.2340G>A (p.Thr780=)
|
rs776196677
|
|
|
NM_001271938.2(MEGF8):c.2341C>T (p.Arg781Trp)
|
|
|
|
NM_001271938.2(MEGF8):c.2355C>A (p.Arg785=)
|
|
|
|
NM_001271938.2(MEGF8):c.2355C>T (p.Arg785=)
|
|
|
|
NM_001271938.2(MEGF8):c.2424G>C (p.Gln808His)
|
|
|
|
NM_001271938.2(MEGF8):c.2427C>G (p.Leu809=)
|
|
|
|
NM_001271938.2(MEGF8):c.246G>T (p.Thr82=)
|
rs369259465
|
|
|
NM_001271938.2(MEGF8):c.2480C>G (p.Thr827Ser)
|
rs2147472784
|
|
|
NM_001271938.2(MEGF8):c.2500-10C>T
|
|
|
|
NM_001271938.2(MEGF8):c.261C>T (p.Phe87=)
|
|
|
|
NM_001271938.2(MEGF8):c.2631C>A (p.Gly877=)
|
|
|
|
NM_001271938.2(MEGF8):c.2643C>T (p.Cys881=)
|
|
|
|
NM_001271938.2(MEGF8):c.2660G>A (p.Gly887Asp)
|
|
|
|
NM_001271938.2(MEGF8):c.2681T>A (p.Val894Glu)
|
rs2039350288
|
|
|
NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe)
|
rs777017134
|
|
|
NM_001271938.2(MEGF8):c.2737-20T>A
|
|
|
|
NM_001271938.2(MEGF8):c.2751G>A (p.Glu917=)
|
|
|
|
NM_001271938.2(MEGF8):c.2796G>T (p.Arg932=)
|
|
|
|
NM_001271938.2(MEGF8):c.2802C>T (p.Gly934=)
|
|
|
|
NM_001271938.2(MEGF8):c.282G>C (p.Pro94=)
|
|
|
|
NM_001271938.2(MEGF8):c.2855+12T>C
|
|
|
|
NM_001271938.2(MEGF8):c.2856-20C>T
|
|
|
|
NM_001271938.2(MEGF8):c.287G>A (p.Gly96Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.291G>T (p.Pro97=)
|
|
|
|
NM_001271938.2(MEGF8):c.2959C>G (p.His987Asp)
|
|
|
|
NM_001271938.2(MEGF8):c.2971C>T (p.Arg991Ter)
|
|
|
|
NM_001271938.2(MEGF8):c.2982C>T (p.Asp994=)
|
|
|
|
NM_001271938.2(MEGF8):c.2988-15C>A
|
|
|
|
NM_001271938.2(MEGF8):c.3057C>T (p.His1019=)
|
|
|
|
NM_001271938.2(MEGF8):c.3210C>T (p.Ala1070=)
|
|
|
|
NM_001271938.2(MEGF8):c.3228T>C (p.Asp1076=)
|
|
|
|
NM_001271938.2(MEGF8):c.3281C>T (p.Thr1094Met)
|
|
|
|
NM_001271938.2(MEGF8):c.328C>A (p.Pro110Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.3294C>T (p.Tyr1098=)
|
|
|
|
NM_001271938.2(MEGF8):c.333C>T (p.Ile111=)
|
|
|
|
NM_001271938.2(MEGF8):c.3350+12G>A
|
|
|
|
NM_001271938.2(MEGF8):c.3350+16dup
|
|
|
|
NM_001271938.2(MEGF8):c.3351-11C>T
|
|
|
|
NM_001271938.2(MEGF8):c.3412G>A (p.Asp1138Asn)
|
|
|
|
NM_001271938.2(MEGF8):c.3426A>G (p.Thr1142=)
|
|
|
|
NM_001271938.2(MEGF8):c.3441del (p.Thr1149fs)
|
|
|
|
NM_001271938.2(MEGF8):c.3452C>T (p.Ala1151Val)
|
rs2039399285
|
|
|
NM_001271938.2(MEGF8):c.3498C>T (p.Ser1166=)
|
rs1600051149
|
|
|
NM_001271938.2(MEGF8):c.351+18C>T
|
|
|
|
NM_001271938.2(MEGF8):c.351+20T>C
|
|
|
|
NM_001271938.2(MEGF8):c.352-13C>T
|
|
|
|
NM_001271938.2(MEGF8):c.352-16C>T
|
|
|
|
NM_001271938.2(MEGF8):c.3577C>T (p.Arg1193Ter)
|
|
|
|
NM_001271938.2(MEGF8):c.3578G>A (p.Arg1193Gln)
|
|
|
|
NM_001271938.2(MEGF8):c.3588C>T (p.Pro1196=)
|
|
|
|
NM_001271938.2(MEGF8):c.3761+2T>C
|
|
|
|
NM_001271938.2(MEGF8):c.3791G>A (p.Gly1264Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.3814G>A (p.Val1272Met)
|
rs770399527
|
|
|
NM_001271938.2(MEGF8):c.3861T>C (p.Pro1287=)
|
|
|
|
NM_001271938.2(MEGF8):c.3887G>A (p.Gly1296Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.3975C>T (p.Thr1325=)
|
|
|
|
NM_001271938.2(MEGF8):c.4012-4C>G
|
rs1405166507
|
|
|
NM_001271938.2(MEGF8):c.4012-6C>G
|
|
|
|
NM_001271938.2(MEGF8):c.4074G>A (p.Ser1358=)
|
|
|
|
NM_001271938.2(MEGF8):c.413G>A (p.Arg138His)
|
|
|
|
NM_001271938.2(MEGF8):c.4144+4C>T
|
|
|
|
NM_001271938.2(MEGF8):c.4145-10C>G
|
|
|
|
NM_001271938.2(MEGF8):c.4149G>A (p.Leu1383=)
|
|
|
|
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe)
|
rs1568568653
|
|
|
NM_001271938.2(MEGF8):c.4196A>G (p.Asn1399Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.4200T>C (p.Ala1400=)
|
|
|
|
NM_001271938.2(MEGF8):c.4212T>G (p.Ser1404=)
|
|
|
|
NM_001271938.2(MEGF8):c.4227del (p.Gly1411fs)
|
|
|
|
NM_001271938.2(MEGF8):c.4234C>A (p.Pro1412Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.4236C>T (p.Pro1412=)
|
|
|
|
NM_001271938.2(MEGF8):c.4251C>T (p.Val1417=)
|
|
|
|
NM_001271938.2(MEGF8):c.4275C>T (p.Asp1425=)
|
|
|
|
NM_001271938.2(MEGF8):c.428C>A (p.Pro143Gln)
|
|
|
|
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu)
|
rs765654107
|
|
|
NM_001271938.2(MEGF8):c.4365C>T (p.Ala1455=)
|
|
|
|
NM_001271938.2(MEGF8):c.4393-19G>C
|
|
|
|
NM_001271938.2(MEGF8):c.4407C>T (p.Cys1469=)
|
|
|
|
NM_001271938.2(MEGF8):c.4415C>T (p.Ala1472Val)
|
|
|
|
NM_001271938.2(MEGF8):c.4451_4452delinsGCA (p.Leu1484fs)
|
|
|
|
NM_001271938.2(MEGF8):c.4488C>T (p.Asp1496=)
|
|
|
|
NM_001271938.2(MEGF8):c.4504-11C>T
|
|
|
|
NM_001271938.2(MEGF8):c.4529G>A (p.Arg1510His)
|
rs541874206
|
|
|
NM_001271938.2(MEGF8):c.4529G>T (p.Arg1510Leu)
|
|
|
|
NM_001271938.2(MEGF8):c.4567T>C (p.Leu1523=)
|
rs2039453501
|
|
|
NM_001271938.2(MEGF8):c.4600G>A (p.Gly1534Arg)
|
rs1285619780
|
|
|
NM_001271938.2(MEGF8):c.4623-5C>A
|
|
|
|
NM_001271938.2(MEGF8):c.4668C>T (p.Ala1556=)
|
|
|
|
NM_001271938.2(MEGF8):c.4764C>T (p.Thr1588=)
|
|
|
|
NM_001271938.2(MEGF8):c.47C>G (p.Ala16Gly)
|
rs1050352479
|
|
|
NM_001271938.2(MEGF8):c.480C>T (p.Cys160=)
|
|
|
|
NM_001271938.2(MEGF8):c.481G>A (p.Glu161Lys)
|
|
|
|
NM_001271938.2(MEGF8):c.4830+19C>T
|
|
|
|
NM_001271938.2(MEGF8):c.4831-11C>T
|
|
|
|
NM_001271938.2(MEGF8):c.4857C>T (p.Ala1619=)
|
|
|
|
NM_001271938.2(MEGF8):c.486G>A (p.Pro162=)
|
|
|
|
NM_001271938.2(MEGF8):c.4929T>C (p.Asn1643=)
|
|
|
|
NM_001271938.2(MEGF8):c.4968C>T (p.Thr1656=)
|
|
|
|
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys)
|
rs770879154
|
|
|
NM_001271938.2(MEGF8):c.4989C>A (p.Ala1663=)
|
|
|
|
NM_001271938.2(MEGF8):c.5007C>A (p.Pro1669=)
|
rs755932452
|
|
|
NM_001271938.2(MEGF8):c.5011+20G>T
|
|
|
|
NM_001271938.2(MEGF8):c.5025C>T (p.His1675=)
|
rs2147488751
|
|
|
NM_001271938.2(MEGF8):c.5049C>T (p.Thr1683=)
|
|
|
|
NM_001271938.2(MEGF8):c.506G>A (p.Cys169Tyr)
|
|
|
|
NM_001271938.2(MEGF8):c.5100C>A (p.Ala1700=)
|
|
|
|
NM_001271938.2(MEGF8):c.5102C>T (p.Pro1701Leu)
|
|
|
|
NM_001271938.2(MEGF8):c.5136C>T (p.Asp1712=)
|
|
|
|
NM_001271938.2(MEGF8):c.5176-12C>G
|
|
|
|
NM_001271938.2(MEGF8):c.5176-18C>T
|
|
|
|
NM_001271938.2(MEGF8):c.5187G>T (p.Met1729Ile)
|
rs761809949
|
|
|
NM_001271938.2(MEGF8):c.5198G>A (p.Arg1733His)
|
|
|
|
NM_001271938.2(MEGF8):c.519G>A (p.Glu173=)
|
|
|
|
NM_001271938.2(MEGF8):c.5231G>A (p.Gly1744Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.5275A>G (p.Met1759Val)
|
|
|
|
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val)
|
rs150607375
|
|
|
NM_001271938.2(MEGF8):c.5293C>T (p.Leu1765Phe)
|
rs1201933643
|
|
|
NM_001271938.2(MEGF8):c.5343+16G>A
|
|
|
|
NM_001271938.2(MEGF8):c.5343+17G>A
|
rs2147490241
|
|
|
NM_001271938.2(MEGF8):c.5344-14del
|
|
|
|
NM_001271938.2(MEGF8):c.5344-16C>A
|
|
|
|
NM_001271938.2(MEGF8):c.5344-17C>A
|
rs780933404
|
|
|
NM_001271938.2(MEGF8):c.5346C>A (p.Pro1782=)
|
|
|
|
NM_001271938.2(MEGF8):c.5376G>C (p.Leu1792=)
|
rs2147490712
|
|
|
NM_001271938.2(MEGF8):c.5380G>T (p.Gly1794Trp)
|
|
|
|
NM_001271938.2(MEGF8):c.5383G>A (p.Asp1795Asn)
|
|
|
|
NM_001271938.2(MEGF8):c.5427C>T (p.Phe1809=)
|
|
|
|
NM_001271938.2(MEGF8):c.5462A>G (p.Asn1821Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.5478C>T (p.Pro1826=)
|
|
|
|
NM_001271938.2(MEGF8):c.5488C>T (p.Arg1830Cys)
|
|
|
|
NM_001271938.2(MEGF8):c.5489-18T>C
|
|
|
|
NM_001271938.2(MEGF8):c.5547C>T (p.Val1849=)
|
|
|
|
NM_001271938.2(MEGF8):c.5554C>T (p.Arg1852Cys)
|
|
|
|
NM_001271938.2(MEGF8):c.5555G>A (p.Arg1852His)
|
|
|
|
NM_001271938.2(MEGF8):c.5577C>T (p.Phe1859=)
|
|
|
|
NM_001271938.2(MEGF8):c.559-18_559-17del
|
rs2147448565
|
|
|
NM_001271938.2(MEGF8):c.559-5C>T
|
|
|
|
NM_001271938.2(MEGF8):c.5597G>T (p.Arg1866Leu)
|
|
|
|
NM_001271938.2(MEGF8):c.5617C>A (p.Pro1873Thr)
|
rs2147493826
|
|
|
NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)
|
|
|
|
NM_001271938.2(MEGF8):c.5720+11C>T
|
|
|
|
NM_001271938.2(MEGF8):c.5720+12G>A
|
|
|
|
NM_001271938.2(MEGF8):c.5720+19A>C
|
rs2039524149
|
|
|
NM_001271938.2(MEGF8):c.5730C>T (p.Cys1910=)
|
|
|
|
NM_001271938.2(MEGF8):c.5733G>A (p.Gly1911=)
|
|
|
|
NM_001271938.2(MEGF8):c.5766G>A (p.Pro1922=)
|
|
|
|
NM_001271938.2(MEGF8):c.5847G>A (p.Ala1949=)
|
|
|
|
NM_001271938.2(MEGF8):c.5848T>A (p.Ser1950Thr)
|
rs1409781298
|
|
|
NM_001271938.2(MEGF8):c.592T>C (p.Leu198=)
|
|
|
|
NM_001271938.2(MEGF8):c.5934T>C (p.Cys1978=)
|
|
|
|
NM_001271938.2(MEGF8):c.5959T>C (p.Trp1987Arg)
|
|
|
|
NM_001271938.2(MEGF8):c.599G>A (p.Arg200His)
|
rs201881006
|
|
|
NM_001271938.2(MEGF8):c.6003C>T (p.Cys2001=)
|
rs536661123
|
|
|
NM_001271938.2(MEGF8):c.6004G>A (p.Glu2002Lys)
|
|
|
|
NM_001271938.2(MEGF8):c.6039G>A (p.Thr2013=)
|
|
|
|
NM_001271938.2(MEGF8):c.6057A>G (p.Thr2019=)
|
|
|
|
NM_001271938.2(MEGF8):c.6058+5G>T
|
|
|
|
NM_001271938.2(MEGF8):c.6080C>A (p.Ser2027Tyr)
|
rs2147497843
|
|
|
NM_001271938.2(MEGF8):c.6081C>T (p.Ser2027=)
|
|
|
|
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=)
|
rs547635717
|
|
|
NM_001271938.2(MEGF8):c.6087G>A (p.Gln2029=)
|
|
|
|
NM_001271938.2(MEGF8):c.6105G>A (p.Thr2035=)
|
|
|
|
NM_001271938.2(MEGF8):c.6163C>T (p.Leu2055=)
|
|
|
|
NM_001271938.2(MEGF8):c.6200G>A (p.Cys2067Tyr)
|
|
|
|
NM_001271938.2(MEGF8):c.6211C>A (p.Leu2071Met)
|
|
|
|
NM_001271938.2(MEGF8):c.6243G>C (p.Gln2081His)
|
rs1399203080
|
|
|
NM_001271938.2(MEGF8):c.6267G>A (p.Leu2089=)
|
rs934116600
|
|
|
NM_001271938.2(MEGF8):c.6274-18C>T
|
|
|
|
NM_001271938.2(MEGF8):c.6274-7C>G
|
|
|
|
NM_001271938.2(MEGF8):c.6274-7C>T
|
rs772512683
|
|
|
NM_001271938.2(MEGF8):c.6301C>G (p.Arg2101Gly)
|
rs2147506322
|
|
|
NM_001271938.2(MEGF8):c.6301C>T (p.Arg2101Ter)
|
|
|
|
NM_001271938.2(MEGF8):c.6312C>T (p.Ala2104=)
|
|
|
|
NM_001271938.2(MEGF8):c.6381C>T (p.Cys2127=)
|
rs532126083
|
|
|
NM_001271938.2(MEGF8):c.6432G>C (p.Gln2144His)
|
|
|
|
NM_001271938.2(MEGF8):c.6474C>T (p.Pro2158=)
|
|
|
|
NM_001271938.2(MEGF8):c.6482-16A>G
|
|
|
|
NM_001271938.2(MEGF8):c.648C>T (p.His216=)
|
|
|
|
NM_001271938.2(MEGF8):c.6571G>A (p.Glu2191Lys)
|
rs760913754
|
|
|
NM_001271938.2(MEGF8):c.6601G>A (p.Gly2201Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.6624C>T (p.Thr2208=)
|
|
|
|
NM_001271938.2(MEGF8):c.6641+14C>T
|
|
|
|
NM_001271938.2(MEGF8):c.6641+17C>T
|
|
|
|
NM_001271938.2(MEGF8):c.6682G>A (p.Val2228Met)
|
|
|
|
NM_001271938.2(MEGF8):c.6798G>A (p.Ala2266=)
|
|
|
|
NM_001271938.2(MEGF8):c.682C>T (p.Arg228Cys)
|
|
|
|
NM_001271938.2(MEGF8):c.6834+8G>A
|
|
|
|
NM_001271938.2(MEGF8):c.686T>C (p.Ile229Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.6882C>T (p.Val2294=)
|
|
|
|
NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)
|
|
|
|
NM_001271938.2(MEGF8):c.68C>T (p.Pro23Leu)
|
|
|
|
NM_001271938.2(MEGF8):c.6910G>A (p.Ala2304Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.6920G>A (p.Arg2307His)
|
|
|
|
NM_001271938.2(MEGF8):c.6920G>T (p.Arg2307Leu)
|
rs142506261
|
|
|
NM_001271938.2(MEGF8):c.6960A>G (p.Gln2320=)
|
|
|
|
NM_001271938.2(MEGF8):c.699C>T (p.Gly233=)
|
|
|
|
NM_001271938.2(MEGF8):c.700G>A (p.Ala234Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.7046C>G (p.Ala2349Gly)
|
|
|
|
NM_001271938.2(MEGF8):c.7116C>G (p.Leu2372=)
|
|
|
|
NM_001271938.2(MEGF8):c.7215G>A (p.Thr2405=)
|
|
|
|
NM_001271938.2(MEGF8):c.7248T>C (p.Arg2416=)
|
|
|
|
NM_001271938.2(MEGF8):c.7260C>G (p.Tyr2420Ter)
|
|
|
|
NM_001271938.2(MEGF8):c.7269+19G>A
|
|
|
|
NM_001271938.2(MEGF8):c.7270-20G>A
|
|
|
|
NM_001271938.2(MEGF8):c.7270-5C>T
|
|
|
|
NM_001271938.2(MEGF8):c.7296C>T (p.His2432=)
|
|
|
|
NM_001271938.2(MEGF8):c.7352G>C (p.Cys2451Ser)
|
rs2039754626
|
|
|
NM_001271938.2(MEGF8):c.735C>T (p.Phe245=)
|
|
|
|
NM_001271938.2(MEGF8):c.739+11G>C
|
|
|
|
NM_001271938.2(MEGF8):c.7399C>T (p.Arg2467Cys)
|
rs769273382
|
|
|
NM_001271938.2(MEGF8):c.7416C>T (p.Pro2472=)
|
|
|
|
NM_001271938.2(MEGF8):c.7422C>T (p.Arg2474=)
|
|
|
|
NM_001271938.2(MEGF8):c.7473G>A (p.Leu2491=)
|
|
|
|
NM_001271938.2(MEGF8):c.7475C>T (p.Thr2492Met)
|
|
|
|
NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe)
|
rs773064133
|
|
|
NM_001271938.2(MEGF8):c.7492G>A (p.Gly2498Arg)
|
|
|
|
NM_001271938.2(MEGF8):c.752A>G (p.Asn251Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.7541G>A (p.Arg2514His)
|
|
|
|
NM_001271938.2(MEGF8):c.7560C>T (p.Gly2520=)
|
|
|
|
NM_001271938.2(MEGF8):c.7590A>G (p.Pro2530=)
|
|
|
|
NM_001271938.2(MEGF8):c.7598C>T (p.Pro2533Leu)
|
rs2147519774
|
|
|
NM_001271938.2(MEGF8):c.7674G>A (p.Pro2558=)
|
|
|
|
NM_001271938.2(MEGF8):c.7674G>C (p.Pro2558=)
|
rs774279106
|
|
|
NM_001271938.2(MEGF8):c.771C>T (p.Leu257=)
|
|
|
|
NM_001271938.2(MEGF8):c.7732G>A (p.Val2578Met)
|
|
|
|
NM_001271938.2(MEGF8):c.7743G>A (p.Thr2581=)
|
|
|
|
NM_001271938.2(MEGF8):c.7758G>A (p.Val2586=)
|
|
|
|
NM_001271938.2(MEGF8):c.7770C>T (p.Arg2590=)
|
|
|
|
NM_001271938.2(MEGF8):c.7786C>A (p.Leu2596Met)
|
rs140517402
|
|
|
NM_001271938.2(MEGF8):c.7786C>T (p.Leu2596=)
|
|
|
|
NM_001271938.2(MEGF8):c.77G>T (p.Arg26Leu)
|
rs377001753
|
|
|
NM_001271938.2(MEGF8):c.7843C>T (p.Leu2615=)
|
|
|
|
NM_001271938.2(MEGF8):c.7854C>T (p.Gly2618=)
|
|
|
|
NM_001271938.2(MEGF8):c.7878C>T (p.Gly2626=)
|
|
|
|
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=)
|
rs150486662
|
|
|
NM_001271938.2(MEGF8):c.790G>A (p.Ala264Thr)
|
|
|
|
NM_001271938.2(MEGF8):c.7941C>T (p.Asp2647=)
|
|
|
|
NM_001271938.2(MEGF8):c.7959C>T (p.Ser2653=)
|
|
|
|
NM_001271938.2(MEGF8):c.7968C>T (p.Phe2656=)
|
|
|
|
NM_001271938.2(MEGF8):c.7C>T (p.Leu3=)
|
|
|
|
NM_001271938.2(MEGF8):c.8050C>T (p.Arg2684Trp)
|
|
|
|
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp)
|
rs1555785144
|
|
|
NM_001271938.2(MEGF8):c.8103C>T (p.Thr2701=)
|
|
|
|
NM_001271938.2(MEGF8):c.8109C>T (p.Cys2703=)
|
|
|
|
NM_001271938.2(MEGF8):c.8140G>T (p.Ala2714Ser)
|
rs548176972
|
|
|
NM_001271938.2(MEGF8):c.8198C>A (p.Ala2733Glu)
|
|
|
|
NM_001271938.2(MEGF8):c.8220C>T (p.Ala2740=)
|
|
|
|
NM_001271938.2(MEGF8):c.8221G>A (p.Gly2741Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.8227C>T (p.Pro2743Ser)
|
|
|
|
NM_001271938.2(MEGF8):c.8242G>C (p.Gly2748Arg)
|
rs2147521006
|
|
|
NM_001271938.2(MEGF8):c.828+11C>T
|
|
|
|
NM_001271938.2(MEGF8):c.828+11del
|
rs2147449280
|
|
|
NM_001271938.2(MEGF8):c.8446G>T (p.Gly2816Cys)
|
|
|
|
NM_001271938.2(MEGF8):c.8466_8467delinsAG (p.Ser2823Gly)
|
rs2039775950
|
|
|
NM_001271938.2(MEGF8):c.8532C>T (p.Ser2844=)
|
|
|
|
NM_001271938.2(MEGF8):c.864C>T (p.Ala288=)
|
|
|
|
NM_001271938.2(MEGF8):c.937C>T (p.Leu313=)
|
|
|
|
NM_001365902.3(NFIX):c.1059del (p.Ala355fs)
|
|
|
|
NM_001365902.3(NFIX):c.1066G>A (p.Gly356Arg)
|
|
|
|
NM_001365902.3(NFIX):c.1073_1076del (p.Arg358fs)
|
rs2145459429
|
|
|
NM_001365902.3(NFIX):c.1078+13G>A
|
|
|
|
NM_001365902.3(NFIX):c.1078+13G>T
|
|
|
|
NM_001365902.3(NFIX):c.1078+14G>A
|
|
|
|
NM_001365902.3(NFIX):c.1078+9T>A
|
|
|
|
NM_001365902.3(NFIX):c.1079-10G>C
|
rs772344456
|
|
|
NM_001365902.3(NFIX):c.1079-10G>T
|
rs772344456
|
|
|
NM_001365902.3(NFIX):c.1079-11C>T
|
|
|
|
NM_001365902.3(NFIX):c.1104C>T (p.Ala368=)
|
|
|
|
NM_001365902.3(NFIX):c.1115C>T (p.Pro372Leu)
|
|
|
|
NM_001365902.3(NFIX):c.1122G>A (p.Thr374=)
|
|
|
|
NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu)
|
rs2013223468
|
|
|
NM_001365902.3(NFIX):c.1160C>T (p.Pro387Leu)
|
|
|
|
NM_001365902.3(NFIX):c.1161G>A (p.Pro387=)
|
rs745896204
|
|
|
NM_001365902.3(NFIX):c.1174CAC[5] (p.His395_Gly396insHis)
|
|
|
|
NM_001365902.3(NFIX):c.1179C>T (p.His393=)
|
|
|
|
NM_001365902.3(NFIX):c.1185C>T (p.His395=)
|
|
|
|
NM_001365902.3(NFIX):c.1199T>C (p.Leu400Pro)
|
|
|
|
NM_001365902.3(NFIX):c.1204G>T (p.Glu402Ter)
|
|
|
|
NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter)
|
rs760493118
|
|
|
NM_001365902.3(NFIX):c.122dup (p.Lys42fs)
|
|
|
|
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu)
|
rs2017489032
|
|
|
NM_001365902.3(NFIX):c.1247C>G (p.Thr416Ser)
|
rs1459325680
|
|
|
NM_001365902.3(NFIX):c.1249G>A (p.Gly417Arg)
|
|
|
|
NM_001365902.3(NFIX):c.1263T>C (p.Gly421=)
|
|
|
|
NM_001365902.3(NFIX):c.1266C>T (p.Ser422=)
|
|
|
|
NM_001365902.3(NFIX):c.1267G>A (p.Gly423Ser)
|
|
|
|
NM_001365902.3(NFIX):c.129G>A (p.Lys43=)
|
|
|
|
NM_001365902.3(NFIX):c.1305G>A (p.Pro435=)
|
|
|
|
NM_001365902.3(NFIX):c.1378G>A (p.Ala460Thr)
|
|
|
|
NM_001365902.3(NFIX):c.138G>A (p.Lys46=)
|
rs1599737654
|
|
|
NM_001365902.3(NFIX):c.1402+10C>T
|
|
|
|
NM_001365902.3(NFIX):c.1402+11G>A
|
|
|
|
NM_001365902.3(NFIX):c.1402+19C>T
|
|
|
|
NM_001365902.3(NFIX):c.1402+20G>A
|
|
|
|
NM_001365902.3(NFIX):c.1403-14C>T
|
|
|
|
NM_001365902.3(NFIX):c.1403-20C>T
|
|
|
|
NM_001365902.3(NFIX):c.1408G>C (p.Ala470Pro)
|
|
|
|
NM_001365902.3(NFIX):c.141G>A (p.Arg47=)
|
|
|
|
NM_001365902.3(NFIX):c.141G>C (p.Arg47=)
|
|
|
|
NM_001365902.3(NFIX):c.1423T>C (p.Ser475Pro)
|
rs2018055834
|
|
|
NM_001365902.3(NFIX):c.143T>A (p.Met48Lys)
|
rs1555696484
|
|
|
NM_001365902.3(NFIX):c.143T>C (p.Met48Thr)
|
rs1555696484
|
|
|
NM_001365902.3(NFIX):c.1494+16C>G
|
|
|
|
NM_001365902.3(NFIX):c.1494+18C>T
|
|
|
|
NM_001365902.3(NFIX):c.1495-10C>T
|
|
|
|
NM_001365902.3(NFIX):c.1495-12A>G
|
|
|
|
NM_001365902.3(NFIX):c.1495-15T>C
|
|
|
|
NM_001365902.3(NFIX):c.1495-18T>C
|
|
|
|
NM_001365902.3(NFIX):c.149_155dup (p.Glu53fs)
|
rs2145191473
|
|
|
NM_001365902.3(NFIX):c.153C>G (p.Asp51Glu)
|
rs150443437
|
|
|
NM_001365902.3(NFIX):c.163G>A (p.Ala55Thr)
|
|
|
|
NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys)
|
|
|
|
NM_001365902.3(NFIX):c.198G>A (p.Glu66=)
|
|
|
|
NM_001365902.3(NFIX):c.230C>G (p.Ala77Gly)
|
|
|
|
NM_001365902.3(NFIX):c.231C>T (p.Ala77=)
|
|
|
|
NM_001365902.3(NFIX):c.232A>T (p.Lys78Ter)
|
rs1599738036
|
|
|
NM_001365902.3(NFIX):c.235C>T (p.Leu79=)
|
|
|
|
NM_001365902.3(NFIX):c.255C>T (p.Pro85=)
|
|
|
|
NM_001365902.3(NFIX):c.275_288del (p.Val92fs)
|
|
|
|
NM_001365902.3(NFIX):c.279G>T (p.Leu93=)
|
|
|
|
NM_001365902.3(NFIX):c.28-15G>A
|
|
|
|
NM_001365902.3(NFIX):c.28-16G>A
|
|
|
|
NM_001365902.3(NFIX):c.28-322A>C
|
|
|
|
NM_001365902.3(NFIX):c.28-322A>G
|
|
|
|
NM_001365902.3(NFIX):c.28-326G>A
|
|
|
|
NM_001365902.3(NFIX):c.28-327C>T
|
rs1368994635
|
|
|
NM_001365902.3(NFIX):c.28-329_28-299del
|
|
|
|
NM_001365902.3(NFIX):c.28-340GT[6]
|
|
|
|
NM_001365902.3(NFIX):c.28-355G>A
|
|
|
|
NM_001365902.3(NFIX):c.28-368G>T
|
|
|
|
NM_001365902.3(NFIX):c.28-370G>A
|
|
|
|
NM_001365902.3(NFIX):c.286_300del (p.Thr96_Pro100del)
|
rs2145192209
|
|
|
NM_001365902.3(NFIX):c.288G>A (p.Thr96=)
|
|
|
|
NM_001365902.3(NFIX):c.303dup (p.Cys102fs)
|
rs886041304
|
|
|
NM_001365902.3(NFIX):c.309C>G (p.Cys103Trp)
|
rs376885081
|
|
|
NM_001365902.3(NFIX):c.316_324del (p.Ser106_Pro108del)
|
|
|
|
NM_001365902.3(NFIX):c.330G>A (p.Gln110=)
|
|
|
|
NM_001365902.3(NFIX):c.335G>T (p.Gly112Val)
|
rs2145192509
|
|
|
NM_001365902.3(NFIX):c.336C>T (p.Gly112=)
|
|
|
|
NM_001365902.3(NFIX):c.33G>A (p.Glu11=)
|
|
|
|
NM_001365902.3(NFIX):c.341_353del (p.Ile114fs)
|
|
|
|
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln)
|
rs2145192570
|
|
|
NM_001365902.3(NFIX):c.358del (p.Leu120fs)
|
rs1555696611
|
|
|
NM_001365902.3(NFIX):c.359T>G (p.Leu120Arg)
|
|
|
|
NM_001365902.3(NFIX):c.360G>A (p.Leu120=)
|
|
|
|
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys)
|
rs797044911
|
|
|
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu)
|
rs2145192745
|
|
|
NM_001365902.3(NFIX):c.379T>C (p.Trp127Arg)
|
rs2013253145
|
|
|
NM_001365902.3(NFIX):c.384G>A (p.Arg128=)
|
|
|
|
NM_001365902.3(NFIX):c.393G>A (p.Leu131=)
|
|
|
|
NM_001365902.3(NFIX):c.393G>C (p.Leu131=)
|
|
|
|
NM_001365902.3(NFIX):c.398T>C (p.Met133Thr)
|
|
|
|
NM_001365902.3(NFIX):c.39C>T (p.His13=)
|
|
|
|
NM_001365902.3(NFIX):c.400G>T (p.Val134Leu)
|
|
|
|
NM_001365902.3(NFIX):c.401T>C (p.Val134Ala)
|
|
|
|
NM_001365902.3(NFIX):c.420C>A (p.Ile140=)
|
|
|
|
NM_001365902.3(NFIX):c.422C>G (p.Pro141Arg)
|
|
|
|
NM_001365902.3(NFIX):c.426G>A (p.Leu142=)
|
|
|
|
NM_001365902.3(NFIX):c.42G>A (p.Pro14=)
|
|
|
|
NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs)
|
rs1599737421
|
|
|
NM_001365902.3(NFIX):c.459G>T (p.Ser153=)
|
|
|
|
NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter)
|
|
|
|
NM_001365902.3(NFIX):c.477C>G (p.Pro159=)
|
|
|
|
NM_001365902.3(NFIX):c.48C>T (p.Ile16=)
|
rs559433211
|
|
|
NM_001365902.3(NFIX):c.515_518del (p.Ile172fs)
|
|
|
|
NM_001365902.3(NFIX):c.523C>T (p.Leu175=)
|
|
|
|
NM_001365902.3(NFIX):c.555T>G (p.Thr185=)
|
|
|
|
NM_001365902.3(NFIX):c.559+18A>G
|
|
|
|
NM_001365902.3(NFIX):c.559+18A>T
|
|
|
|
NM_001365902.3(NFIX):c.559+23del
|
|
|
|
NM_001365902.3(NFIX):c.559+8G>A
|
|
|
|
NM_001365902.3(NFIX):c.559G>T (p.Glu187Ter)
|
|
|
|
NM_001365902.3(NFIX):c.55C>T (p.Leu19=)
|
|
|
|
NM_001365902.3(NFIX):c.564C>T (p.Ser188=)
|
|
|
|
NM_001365902.3(NFIX):c.567A>G (p.Gly189=)
|
|
|
|
NM_001365902.3(NFIX):c.582A>C (p.Ser194=)
|
|
|
|
NM_001365902.3(NFIX):c.586C>T (p.Gln196Ter)
|
rs2145430763
|
|
|
NM_001365902.3(NFIX):c.599C>T (p.Ala200Val)
|
|
|
|
NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs)
|
rs2013218777
|
|
|
NM_001365902.3(NFIX):c.612A>G (p.Pro204=)
|
|
|
|
NM_001365902.3(NFIX):c.621C>T (p.Asn207=)
|
|
|
|
NM_001365902.3(NFIX):c.622+10C>T
|
|
|
|
NM_001365902.3(NFIX):c.622+4A>G
|
|
|
|
NM_001365902.3(NFIX):c.622+5G>A
|
|
|
|
NM_001365902.3(NFIX):c.622+8C>G
|
|
|
|
NM_001365902.3(NFIX):c.623-8C>T
|
|
|
|
NM_001365902.3(NFIX):c.623G>A (p.Gly208Glu)
|
|
|
|
NM_001365902.3(NFIX):c.628T>C (p.Leu210=)
|
rs1568316185
|
|
|
NM_001365902.3(NFIX):c.637C>T (p.Gln213Ter)
|
rs886041422
|
|
|
NM_001365902.3(NFIX):c.644G>A (p.Cys215Tyr)
|
|
|
|
NM_001365902.3(NFIX):c.66C>T (p.His22=)
|
|
|
|
NM_001365902.3(NFIX):c.674C>A (p.Thr225Lys)
|
|
|
|
NM_001365902.3(NFIX):c.675G>A (p.Thr225=)
|
|
|
|
NM_001365902.3(NFIX):c.67G>C (p.Val23Leu)
|
|
|
|
NM_001365902.3(NFIX):c.67G>T (p.Val23Phe)
|
|
|
|
NM_001365902.3(NFIX):c.687_688dup (p.Val230fs)
|
|
|
|
NM_001365902.3(NFIX):c.690A>G (p.Val230=)
|
rs1599843738
|
|
|
NM_001365902.3(NFIX):c.697+17T>C
|
|
|
|
NM_001365902.3(NFIX):c.697+3_697+6del
|
|
|
|
NM_001365902.3(NFIX):c.698-5C>G
|
|
|
|
NM_001365902.3(NFIX):c.731C>G (p.Ser244Cys)
|
|
|
|
NM_001365902.3(NFIX):c.742C>T (p.Leu248=)
|
|
|
|
NM_001365902.3(NFIX):c.764A>G (p.Asn255Ser)
|
|
|
|
NM_001365902.3(NFIX):c.765C>T (p.Asn255=)
|
|
|
|
NM_001365902.3(NFIX):c.769A>G (p.Asn257Asp)
|
|
|
|
NM_001365902.3(NFIX):c.787C>T (p.Arg263Trp)
|
rs1568316909
|
|
|
NM_001365902.3(NFIX):c.791G>T (p.Arg264Leu)
|
|
|
|
NM_001365902.3(NFIX):c.818+16C>T
|
|
|
|
NM_001365902.3(NFIX):c.818+7C>T
|
|
|
|
NM_001365902.3(NFIX):c.818+9_818+16del
|
|
|
|
NM_001365902.3(NFIX):c.819-11T>C
|
|
|
|
NM_001365902.3(NFIX):c.819-3C>T
|
|
|
|
NM_001365902.3(NFIX):c.83A>G (p.Tyr28Cys)
|
|
|
|
NM_001365902.3(NFIX):c.846T>C (p.Asp282=)
|
|
|
|
NM_001365902.3(NFIX):c.876C>T (p.Asp292=)
|
|
|
|
NM_001365902.3(NFIX):c.883T>C (p.Tyr295His)
|
|
|
|
NM_001365902.3(NFIX):c.888C>T (p.Pro296=)
|
|
|
|
NM_001365902.3(NFIX):c.889G>A (p.Gly297Arg)
|
|
|
|
NM_001365902.3(NFIX):c.906A>C (p.Pro302=)
|
|
|
|
NM_001365902.3(NFIX):c.933G>A (p.Gly311=)
|
|
|
|
NM_001365902.3(NFIX):c.937C>T (p.Pro313Ser)
|
|
|
|
NM_001365902.3(NFIX):c.942C>T (p.Asn314=)
|
|
|
|
NM_001365902.3(NFIX):c.946G>A (p.Val316Met)
|
|
|
|
NM_001365902.3(NFIX):c.955+15G>C
|
|
|
|
NM_001365902.3(NFIX):c.955+2T>C
|
rs1568318932
|
|
|
NM_001365902.3(NFIX):c.956-14C>T
|
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|
|
NM_001365902.3(NFIX):c.956-3del
|
|
|
|
NM_001365902.3(NFIX):c.956-4C>G
|
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|
|
NM_001365902.3(NFIX):c.956-4C>T
|
|
|
|
NM_001365902.3(NFIX):c.988G>A (p.Asp330Asn)
|
rs1215112413
|
|
|
NM_001379200.1(TBX1):c.1000G>A (p.Val334Met)
|
|
|
|
NM_001379200.1(TBX1):c.1004C>T (p.Ala335Val)
|
|
|
|
NM_001379200.1(TBX1):c.1008C>T (p.Ser336=)
|
|
|
|
NM_001379200.1(TBX1):c.1011G>A (p.Pro337=)
|
|
|
|
NM_001379200.1(TBX1):c.1015C>T (p.Gln339Ter)
|
|
|
|
NM_001379200.1(TBX1):c.101G>C (p.Gly34Ala)
|
rs1335862067
|
|
|
NM_001379200.1(TBX1):c.1020C>T (p.Pro340=)
|
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|
|
NM_001379200.1(TBX1):c.1023C>T (p.Ser341=)
|
rs1227296562
|
|
|
NM_001379200.1(TBX1):c.1024G>T (p.Gly342Cys)
|
rs1294861011
|
|
|
NM_001379200.1(TBX1):c.1026C>T (p.Gly342=)
|
|
|
|
NM_001379200.1(TBX1):c.1027del (p.Thr343fs)
|
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|
|
NM_001379200.1(TBX1):c.1028C>A (p.Thr343Lys)
|
|
|
|
NM_001379200.1(TBX1):c.1029G>A (p.Thr343=)
|
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|
|
NM_001379200.1(TBX1):c.1030G>A (p.Glu344Lys)
|
|
|
|
NM_001379200.1(TBX1):c.1036+11G>A
|
|
|
|
NM_001379200.1(TBX1):c.1036+17G>A
|
rs1601292943
|
|
|
NM_001379200.1(TBX1):c.1036+18G>A
|
|
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|
NM_001379200.1(TBX1):c.1036+18G>C
|
rs2145837264
|
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|
NM_001379200.1(TBX1):c.1036+19G>T
|
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|
NM_001379200.1(TBX1):c.1036+2T>C
|
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|
NM_001379200.1(TBX1):c.1036+4G>T
|
rs1936826165
|
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|
NM_001379200.1(TBX1):c.1036+6G>A
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NM_001379200.1(TBX1):c.1036+9G>A
|
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NM_001379200.1(TBX1):c.1036G>A (p.Asp346Asn)
|
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|
NM_001379200.1(TBX1):c.1037-11C>T
|
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NM_001379200.1(TBX1):c.1037-12C>T
|
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|
NM_001379200.1(TBX1):c.1037-14G>T
|
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NM_001379200.1(TBX1):c.1037-15C>G
|
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|
NM_001379200.1(TBX1):c.1037-17C>G
|
|
|
|
NM_001379200.1(TBX1):c.1037-1G>A
|
rs1936844527
|
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|
NM_001379200.1(TBX1):c.1037-6C>T
|
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|
NM_001379200.1(TBX1):c.1037-7_1037-6del
|
rs1037168604
|
|
|
NM_001379200.1(TBX1):c.1039G>A (p.Ala347Thr)
|
rs1936844604
|
|
|
NM_001379200.1(TBX1):c.1041G>A (p.Ala347=)
|
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|
|
NM_001379200.1(TBX1):c.1042G>T (p.Ala348Ser)
|
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|
|
NM_001379200.1(TBX1):c.1045G>A (p.Glu349Lys)
|
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|
|
NM_001379200.1(TBX1):c.1046A>T (p.Glu349Val)
|
rs751917634
|
|
|
NM_001379200.1(TBX1):c.104G>A (p.Gly35Asp)
|
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|
|
NM_001379200.1(TBX1):c.104G>T (p.Gly35Val)
|
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|
NM_001379200.1(TBX1):c.1051C>A (p.Arg351=)
|
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|
NM_001379200.1(TBX1):c.1051C>T (p.Arg351Trp)
|
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|
|
NM_001379200.1(TBX1):c.1053G>C (p.Arg351=)
|
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|
|
NM_001379200.1(TBX1):c.105C>T (p.Gly35=)
|
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|
|
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter)
|
rs1936845711
|
|
|
NM_001379200.1(TBX1):c.1066C>A (p.Arg356Ser)
|
rs1046395605
|
|
|
NM_001379200.1(TBX1):c.1067G>A (p.Arg356His)
|
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|
|
NM_001379200.1(TBX1):c.1070A>G (p.Asp357Gly)
|
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|
|
NM_001379200.1(TBX1):c.1071C>A (p.Asp357Glu)
|
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|
|
NM_001379200.1(TBX1):c.1072G>A (p.Ala358Thr)
|
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|
|
NM_001379200.1(TBX1):c.1074G>C (p.Ala358=)
|
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|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
|
NM_001379200.1(TBX1):c.1076G>T (p.Gly359Val)
|
rs781731042
|
|
|
NM_001379200.1(TBX1):c.1079G>A (p.Gly360Glu)
|
|
|
|
NM_001379200.1(TBX1):c.1081C>G (p.Pro361Ala)
|
|
|
|
NM_001379200.1(TBX1):c.1083A>T (p.Pro361=)
|
|
|
|
NM_001379200.1(TBX1):c.1085C>T (p.Ala362Val)
|
rs569581176
|
|
|
NM_001379200.1(TBX1):c.1085_1086inv (p.Ala362Val)
|
|
|
|
NM_001379200.1(TBX1):c.1089_1090delinsAA (p.Leu364Ile)
|
|
|
|
NM_001379200.1(TBX1):c.108C>T (p.Phe36=)
|
rs1378203817
|
|
|
NM_001379200.1(TBX1):c.1090C>T (p.Leu364Phe)
|
rs1200093941
|
|
|
NM_001379200.1(TBX1):c.1095G>A (p.Gly365=)
|
|
|
|
NM_001379200.1(TBX1):c.1096G>A (p.Asp366Asn)
|
|
|
|
NM_001379200.1(TBX1):c.1099C>G (p.Pro367Ala)
|
rs2145838185
|
|
|
NM_001379200.1(TBX1):c.109C>A (p.Pro37Thr)
|
rs2145827634
|
|
|
NM_001379200.1(TBX1):c.1100C>A (p.Pro367Gln)
|
|
|
|
NM_001379200.1(TBX1):c.1101G>A (p.Pro367=)
|
rs1010293843
|
|
|
NM_001379200.1(TBX1):c.1104G>A (p.Ala368=)
|
|
|
|
NM_001379200.1(TBX1):c.1104G>C (p.Ala368=)
|
|
|
|
NM_001379200.1(TBX1):c.1105C>T (p.His369Tyr)
|
rs1936848458
|
|
|
NM_001379200.1(TBX1):c.1112C>T (p.Pro371Leu)
|
|
|
|
NM_001379200.1(TBX1):c.1117C>T (p.Leu373=)
|
|
|
|
NM_001379200.1(TBX1):c.1117del (p.Leu373fs)
|
rs2145838229
|
|
|
NM_001379200.1(TBX1):c.1118T>A (p.Leu373Gln)
|
|
|
|
NM_001379200.1(TBX1):c.1118T>C (p.Leu373Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1120C>T (p.Leu374=)
|
|
|
|
NM_001379200.1(TBX1):c.1121T>C (p.Leu374Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1125C>T (p.Ala375=)
|
rs1936849382
|
|
|
NM_001379200.1(TBX1):c.1129G>C (p.Val377Leu)
|
|
|
|
NM_001379200.1(TBX1):c.1131G>C (p.Val377=)
|
|
|
|
NM_001379200.1(TBX1):c.1135A>G (p.Ser379Gly)
|
rs2145838292
|
|
|
NM_001379200.1(TBX1):c.1137C>T (p.Ser379=)
|
|
|
|
NM_001379200.1(TBX1):c.1138C>T (p.Pro380Ser)
|
rs922499443
|
|
|
NM_001379200.1(TBX1):c.1142C>T (p.Ser381Leu)
|
rs1936850184
|
|
|
NM_001379200.1(TBX1):c.1145T>C (p.Leu382Pro)
|
rs2145838313
|
|
|
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His)
|
rs953761540
|
|
|
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly)
|
rs1192078635
|
|
|
NM_001379200.1(TBX1):c.114C>A (p.Gly38=)
|
|
|
|
NM_001379200.1(TBX1):c.114C>T (p.Gly38=)
|
|
|
|
NM_001379200.1(TBX1):c.1150G>C (p.Gly384Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Pro383_Gly384insArgAlaGly)
|
rs1555896709
|
|
|
NM_001379200.1(TBX1):c.1152G>C (p.Gly384=)
|
rs1354472648
|
|
|
NM_001379200.1(TBX1):c.1152_1160dup (p.Gly390_Leu391insAlaGlyGly)
|
|
|
|
NM_001379200.1(TBX1):c.1153GCCGGCGGC[1] (p.385AGG[1])
|
rs1288296547
|
|
|
NM_001379200.1(TBX1):c.1153GCCGGCGGC[3] (p.385AGG[3])
|
rs1288296547
|
|
|
NM_001379200.1(TBX1):c.1154C>T (p.Ala385Val)
|
|
|
|
NM_001379200.1(TBX1):c.1158C>T (p.Gly386=)
|
|
|
|
NM_001379200.1(TBX1):c.115G>A (p.Ala39Thr)
|
|
|
|
NM_001379200.1(TBX1):c.115_213del (p.Ala39_Gly71del)
|
|
|
|
NM_001379200.1(TBX1):c.1160G>A (p.Gly387Asp)
|
rs2145838410
|
|
|
NM_001379200.1(TBX1):c.1161C>G (p.Gly387=)
|
|
|
|
NM_001379200.1(TBX1):c.1164C>T (p.Ala388=)
|
|
|
|
NM_001379200.1(TBX1):c.1165G>A (p.Gly389Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1167C>A (p.Gly389=)
|
rs111605258
|
|
|
NM_001379200.1(TBX1):c.1167C>T (p.Gly389=)
|
|
|
|
NM_001379200.1(TBX1):c.1168G>C (p.Gly390Arg)
|
rs1408610906
|
|
|
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser)
|
rs1936852709
|
|
|
NM_001379200.1(TBX1):c.1178C>G (p.Pro393Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1179G>C (p.Pro393=)
|
|
|
|
NM_001379200.1(TBX1):c.117C>T (p.Ala39=)
|
|
|
|
NM_001379200.1(TBX1):c.1180C>A (p.Leu394Met)
|
|
|
|
NM_001379200.1(TBX1):c.1185C>T (p.Pro395=)
|
|
|
|
NM_001379200.1(TBX1):c.1189G>A (p.Ala397Thr)
|
rs2145838479
|
|
|
NM_001379200.1(TBX1):c.1194C>T (p.Pro398=)
|
|
|
|
NM_001379200.1(TBX1):c.1196G>A (p.Gly399Glu)
|
rs1274082696
|
|
|
NM_001379200.1(TBX1):c.1196G>T (p.Gly399Val)
|
|
|
|
NM_001379200.1(TBX1):c.1198G>C (p.Gly400Arg)
|
rs1936854182
|
|
|
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln)
|
rs1270901790
|
|
|
NM_001379200.1(TBX1):c.1204C>T (p.Pro402Ser)
|
rs1485590152
|
|
|
NM_001379200.1(TBX1):c.1205C>G (p.Pro402Arg)
|
rs1936854828
|
|
|
NM_001379200.1(TBX1):c.1206C>G (p.Pro402=)
|
|
|
|
NM_001379200.1(TBX1):c.1206_1207insGAACCCCGAGC (p.Ser403fs)
|
|
|
|
NM_001379200.1(TBX1):c.1208G>A (p.Ser403Asn)
|
rs749558577
|
|
|
NM_001379200.1(TBX1):c.1210C>T (p.Pro404Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1212C>T (p.Pro404=)
|
rs1168835856
|
|
|
NM_001379200.1(TBX1):c.1214C>A (p.Pro405Gln)
|
rs746812421
|
|
|
NM_001379200.1(TBX1):c.1217A>G (p.Asn406Ser)
|
rs1936855908
|
|
|
NM_001379200.1(TBX1):c.121T>C (p.Ser41Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1221C>A (p.Pro407=)
|
rs1305509653
|
|
|
NM_001379200.1(TBX1):c.1222G>A (p.Glu408Lys)
|
|
|
|
NM_001379200.1(TBX1):c.1224G>A (p.Glu408=)
|
|
|
|
NM_001379200.1(TBX1):c.1231C>T (p.Leu411=)
|
rs2145838647
|
|
|
NM_001379200.1(TBX1):c.1238C>T (p.Ala413Val)
|
|
|
|
NM_001379200.1(TBX1):c.1239G>A (p.Ala413=)
|
rs1228513970
|
|
|
NM_001379200.1(TBX1):c.1239G>C (p.Ala413=)
|
|
|
|
NM_001379200.1(TBX1):c.1239G>T (p.Ala413=)
|
|
|
|
NM_001379200.1(TBX1):c.1242C>A (p.Pro414=)
|
rs200135498
|
|
|
NM_001379200.1(TBX1):c.1242C>G (p.Pro414=)
|
rs200135498
|
|
|
NM_001379200.1(TBX1):c.1247C>T (p.Ala416Val)
|
|
|
|
NM_001379200.1(TBX1):c.124C>T (p.Pro42Ser)
|
rs2145827697
|
|
|
NM_001379200.1(TBX1):c.1250C>T (p.Ser417Leu)
|
rs779281442
|
|
|
NM_001379200.1(TBX1):c.1251G>C (p.Ser417=)
|
rs770781746
|
|
|
NM_001379200.1(TBX1):c.1252G>T (p.Glu418Ter)
|
|
|
|
NM_001379200.1(TBX1):c.1253A>C (p.Glu418Ala)
|
|
|
|
NM_001379200.1(TBX1):c.1254G>T (p.Glu418Asp)
|
|
|
|
NM_001379200.1(TBX1):c.1256C>T (p.Pro419Leu)
|
|
|
|
NM_001379200.1(TBX1):c.1260G>A (p.Leu420=)
|
|
|
|
NM_001379200.1(TBX1):c.1261C>A (p.His421Asn)
|
rs985907694
|
|
|
NM_001379200.1(TBX1):c.1263C>T (p.His421=)
|
|
|
|
NM_001379200.1(TBX1):c.1265A>G (p.His422Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1266_1267delinsAT (p.His422_His423delinsGlnTyr)
|
|
|
|
NM_001379200.1(TBX1):c.1268A>C (p.His423Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1269C>T (p.His423=)
|
rs761327170
|
|
|
NM_001379200.1(TBX1):c.126C>T (p.Pro42=)
|
|
|
|
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His)
|
rs1243986502
|
|
|
NM_001379200.1(TBX1):c.1275C>T (p.Tyr425=)
|
rs2145838867
|
|
|
NM_001379200.1(TBX1):c.1276A>C (p.Lys426Gln)
|
|
|
|
NM_001379200.1(TBX1):c.127G>A (p.Gly43Ser)
|
rs1936637392
|
|
|
NM_001379200.1(TBX1):c.127G>T (p.Gly43Cys)
|
rs1936637392
|
|
|
NM_001379200.1(TBX1):c.1280A>T (p.Tyr427Phe)
|
rs1601294456
|
|
|
NM_001379200.1(TBX1):c.1282C>T (p.Pro428Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1283C>G (p.Pro428Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1293C>G (p.Ala431=)
|
|
|
|
NM_001379200.1(TBX1):c.1296C>T (p.Tyr432=)
|
|
|
|
NM_001379200.1(TBX1):c.1297G>T (p.Asp433Tyr)
|
rs758517884
|
|
|
NM_001379200.1(TBX1):c.1299C>A (p.Asp433Glu)
|
|
|
|
NM_001379200.1(TBX1):c.1301A>C (p.His434Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1301A>G (p.His434Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1302_1304del (p.Tyr435del)
|
rs1936861633
|
|
|
NM_001379200.1(TBX1):c.1306C>T (p.Leu436Phe)
|
|
|
|
NM_001379200.1(TBX1):c.1309G>T (p.Gly437Trp)
|
|
|
|
NM_001379200.1(TBX1):c.1311G>A (p.Gly437=)
|
|
|
|
NM_001379200.1(TBX1):c.1312G>T (p.Ala438Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1314C>G (p.Ala438=)
|
|
|
|
NM_001379200.1(TBX1):c.1317G>A (p.Lys439=)
|
|
|
|
NM_001379200.1(TBX1):c.131C>G (p.Ala44Gly)
|
|
|
|
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg)
|
rs2145838985
|
|
|
NM_001379200.1(TBX1):c.1321C>T (p.Arg441Trp)
|
|
|
|
NM_001379200.1(TBX1):c.1327G>A (p.Ala443Thr)
|
|
|
|
NM_001379200.1(TBX1):c.1341G>C (p.Leu447=)
|
|
|
|
NM_001379200.1(TBX1):c.1341G>T (p.Leu447=)
|
|
|
|
NM_001379200.1(TBX1):c.1342C>A (p.Pro448Thr)
|
|
|
|
NM_001379200.1(TBX1):c.1345G>A (p.Gly449Ser)
|
rs777873225
|
|
|
NM_001379200.1(TBX1):c.1345G>C (p.Gly449Arg)
|
rs777873225
|
|
|
NM_001379200.1(TBX1):c.1348C>G (p.Leu450Val)
|
rs751740430
|
|
|
NM_001379200.1(TBX1):c.1356C>T (p.Gly452=)
|
|
|
|
NM_001379200.1(TBX1):c.1361_1375del (p.Gly454_His458del)
|
|
|
|
NM_001379200.1(TBX1):c.1361_1384dup (p.Pro461_His462insArgTyrHisProHisAlaHisPro)
|
|
|
|
NM_001379200.1(TBX1):c.1363T>C (p.Tyr455His)
|
|
|
|
NM_001379200.1(TBX1):c.1368C>A (p.His456Gln)
|
rs1601294758
|
|
|
NM_001379200.1(TBX1):c.1368_1379dup (p.Ala459_His462dup)
|
rs774578030
|
|
|
NM_001379200.1(TBX1):c.1369C>T (p.Pro457Ser)
|
|
|
|
NM_001379200.1(TBX1):c.136C>A (p.Pro46Thr)
|
|
|
|
NM_001379200.1(TBX1):c.1370C>G (p.Pro457Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1372C>T (p.His458Tyr)
|
|
|
|
NM_001379200.1(TBX1):c.1375_1386dup (p.His462_His463insAlaHisProHis)
|
|
|
|
NM_001379200.1(TBX1):c.1375dup (p.Ala459fs)
|
|
|
|
NM_001379200.1(TBX1):c.1376C>T (p.Ala459Val)
|
rs1936866904
|
|
|
NM_001379200.1(TBX1):c.1377G>A (p.Ala459=)
|
|
|
|
NM_001379200.1(TBX1):c.1377G>T (p.Ala459=)
|
rs771540171
|
|
|
NM_001379200.1(TBX1):c.1379A>T (p.His460Leu)
|
rs1384737337
|
|
|
NM_001379200.1(TBX1):c.1380T>A (p.His460Gln)
|
|
|
|
NM_001379200.1(TBX1):c.1380T>C (p.His460=)
|
rs367711718
|
|
|
NM_001379200.1(TBX1):c.1380T>G (p.His460Gln)
|
rs367711718
|
|
|
NM_001379200.1(TBX1):c.1381C>T (p.Pro461Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1382C>T (p.Pro461Leu)
|
rs1936867566
|
|
|
NM_001379200.1(TBX1):c.1385ACC[2] (p.His464_His466del)
|
|
|
|
NM_001379200.1(TBX1):c.1385ACC[3] (p.His465_His466del)
|
rs753713234
|
|
|
NM_001379200.1(TBX1):c.1385ACC[4] (p.His466del)
|
rs753713234
|
|
|
NM_001379200.1(TBX1):c.1385ACC[6] (p.His466_Pro467insHis)
|
|
|
|
NM_001379200.1(TBX1):c.1385ACC[7] (p.His466_Pro467insHisHis)
|
|
|
|
NM_001379200.1(TBX1):c.1387C>A (p.His463Asn)
|
|
|
|
NM_001379200.1(TBX1):c.1388A>G (p.His463Arg)
|
|
|
|
NM_001379200.1(TBX1):c.1393C>G (p.His465Asp)
|
rs2145839292
|
|
|
NM_001379200.1(TBX1):c.1394_1397dup (p.His466fs)
|
|
|
|
NM_001379200.1(TBX1):c.1399C>A (p.Pro467Thr)
|
rs765827356
|
|
|
NM_001379200.1(TBX1):c.1399C>T (p.Pro467Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1400C>T (p.Pro467Leu)
|
rs1936869060
|
|
|
NM_001379200.1(TBX1):c.1401C>T (p.Pro467=)
|
rs753192876
|
|
|
NM_001379200.1(TBX1):c.1402G>T (p.Val468Leu)
|
rs764197422
|
|
|
NM_001379200.1(TBX1):c.1408_1416del (p.Pro470_Ala472del)
|
|
|
|
NM_001379200.1(TBX1):c.1408_1446del (p.Pro470_Ala482del)
|
rs1238730283
|
|
|
NM_001379200.1(TBX1):c.1410A>G (p.Pro470=)
|
|
|
|
NM_001379200.1(TBX1):c.1410_1448del (p.Ala473_Ala485del)
|
rs764911027
|
|
|
NM_001379200.1(TBX1):c.1413_1442del (p.Ala476_Ala485del)
|
rs752498057
|
|
|
NM_001379200.1(TBX1):c.1414_1415del (p.Ala472fs)
|
|
|
|
NM_001379200.1(TBX1):c.1417G>T (p.Ala473Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1419_1421dup (p.Ala485_Asn486insAla)
|
|
|
|
NM_001379200.1(TBX1):c.1419_1424dup (p.Ala484_Ala485dup)
|
rs1478207118
|
|
|
NM_001379200.1(TBX1):c.1419_1427del (p.Ala483_Ala485del)
|
rs777514486
|
|
|
NM_001379200.1(TBX1):c.1419_1427dup (p.Ala485_Asn486insAlaAlaAla)
|
|
|
|
NM_001379200.1(TBX1):c.1419_1430del (p.Ala482_Ala485del)
|
rs751264690
|
|
|
NM_001379200.1(TBX1):c.1419_1433del (p.Ala481_Ala485del)
|
rs780815537
|
|
|
NM_001379200.1(TBX1):c.141C>T (p.Tyr47=)
|
|
|
|
NM_001379200.1(TBX1):c.1421C>T (p.Ala474Val)
|
|
|
|
NM_001379200.1(TBX1):c.1422C>T (p.Ala474=)
|
|
|
|
NM_001379200.1(TBX1):c.1422CGC[1] (p.Ala483_Ala485del)
|
|
|
|
NM_001379200.1(TBX1):c.1422CGC[3] (p.Ala485del)
|
|
|
|
NM_001379200.1(TBX1):c.1422CGC[5] (p.Ala485dup)
|
rs756680878
|
|
|
NM_001379200.1(TBX1):c.1422CGC[6] (p.Ala485_Asn486insAlaAla)
|
|
|
|
NM_001379200.1(TBX1):c.1423G>A (p.Ala475Thr)
|
|
|
|
NM_001379200.1(TBX1):c.1426_1455del (p.Ala476_Ala485del)
|
rs746335599
|
|
|
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
|
rs746335599
|
|
|
NM_001379200.1(TBX1):c.1427C>T (p.Ala476Val)
|
|
|
|
NM_001379200.1(TBX1):c.1428C>T (p.Ala476=)
|
|
|
|
NM_001379200.1(TBX1):c.1431C>A (p.Ala477=)
|
|
|
|
NM_001379200.1(TBX1):c.1431_1439del (p.Ala483_Ala485del)
|
rs774489872
|
|
|
NM_001379200.1(TBX1):c.1434T>C (p.Ala478=)
|
|
|
|
NM_001379200.1(TBX1):c.1434T>G (p.Ala478=)
|
|
|
|
NM_001379200.1(TBX1):c.1436_1474dup (p.Ala479_Ala491dup)
|
rs1569024504
|
|
|
NM_001379200.1(TBX1):c.1437C>G (p.Ala479=)
|
|
|
|
NM_001379200.1(TBX1):c.143G>T (p.Gly48Val)
|
|
|
|
NM_001379200.1(TBX1):c.1440A>G (p.Ala480=)
|
|
|
|
NM_001379200.1(TBX1):c.1440_1448del (p.Ala483_Ala485del)
|
rs748434309
|
|
|
NM_001379200.1(TBX1):c.1440_1448dup (p.Ala483_Ala485dup)
|
rs748434309
|
|
|
NM_001379200.1(TBX1):c.1440_1454dup (p.Ala485_Asn486insAlaAlaAlaAlaAla)
|
|
|
|
NM_001379200.1(TBX1):c.1443T>C (p.Ala481=)
|
|
|
|
NM_001379200.1(TBX1):c.1443_1451dup (p.Ala483_Ala485dup)
|
rs760701410
|
|
|
NM_001379200.1(TBX1):c.1447G>T (p.Ala483Ser)
|
|
|
|
NM_001379200.1(TBX1):c.1451C>T (p.Ala484Val)
|
rs1407079342
|
|
|
NM_001379200.1(TBX1):c.1456A>G (p.Asn486Asp)
|
|
|
|
NM_001379200.1(TBX1):c.1459A>G (p.Met487Val)
|
|
|
|
NM_001379200.1(TBX1):c.1459A>T (p.Met487Leu)
|
rs1936874664
|
|
|
NM_001379200.1(TBX1):c.1461G>A (p.Met487Ile)
|
rs371506174
|
|
|
NM_001379200.1(TBX1):c.1465T>C (p.Ser489Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1465TCG[1] (p.Ser490del)
|
|
|
|
NM_001379200.1(TBX1):c.1466C>T (p.Ser489Leu)
|
rs2145839683
|
|
|
NM_001379200.1(TBX1):c.1468T>C (p.Ser490Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1471G>C (p.Ala491Pro)
|
|
|
|
NM_001379200.1(TBX1):c.1473C>T (p.Ala491=)
|
rs775895785
|
|
|
NM_001379200.1(TBX1):c.1474G>T (p.Gly492Ter)
|
rs541198585
|
|
|
NM_001379200.1(TBX1):c.1483_1488del (p.Pro495_Pro496del)
|
|
|
|
NM_001379200.1(TBX1):c.1484C>A (p.Pro495Gln)
|
rs762076391
|
|
|
NM_001379200.1(TBX1):c.1484C>T (p.Pro495Leu)
|
|
|
|
NM_001379200.1(TBX1):c.1488C>T (p.Pro496=)
|
|
|
|
NM_001379200.1(TBX1):c.1495T>G (p.Tyr499Asp)
|
|
|
|
NM_001379200.1(TBX1):c.1500C>T (p.Asp500=)
|
|
|
|
NM_001379200.1(TBX1):c.1501T>A (p.Tyr501Asn)
|
|
|
|
NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)
|
|
|
|
NM_001379200.1(TBX1):c.1508C>T (p.Pro503Leu)
|
|
|
|
NM_001379200.1(TBX1):c.150C>T (p.Arg50=)
|
|
|
|
NM_001379200.1(TBX1):c.1511G>C (p.Arg504Thr)
|
|
|
|
NM_001379200.1(TBX1):c.152_232del (p.Glu51_His77del)
|
rs1601282938
|
|
|
NM_001379200.1(TBX1):c.153G>A (p.Glu51=)
|
|
|
|
NM_001379200.1(TBX1):c.154C>A (p.Pro52Thr)
|
|
|
|
NM_001379200.1(TBX1):c.156C>A (p.Pro52=)
|
|
|
|
NM_001379200.1(TBX1):c.156C>T (p.Pro52=)
|
|
|
|
NM_001379200.1(TBX1):c.157C>T (p.Pro53Ser)
|
rs1936638931
|
|
|
NM_001379200.1(TBX1):c.158CGC[3] (p.Pro56_Pro57del)
|
rs886038791
|
|
|
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup)
|
rs886038791
|
|
|
NM_001379200.1(TBX1):c.158CGC[7] (p.Pro57_Arg58insProPro)
|
|
|
|
NM_001379200.1(TBX1):c.160C>T (p.Pro54Ser)
|
|
|
|
NM_001379200.1(TBX1):c.166C>T (p.Pro56Ser)
|
|
|
|
NM_001379200.1(TBX1):c.167_229del (p.Pro56_Pro76del)
|
rs2145827836
|
|
|
NM_001379200.1(TBX1):c.170C>T (p.Pro57Leu)
|
|
|
|
NM_001379200.1(TBX1):c.170_229del (p.Pro57_Pro76del)
|
|
|
|
NM_001379200.1(TBX1):c.173_229del (p.Arg58_Pro76del)
|
rs1569018211
|
|
|
NM_001379200.1(TBX1):c.182C>T (p.Pro61Leu)
|
rs1936640287
|
|
|
NM_001379200.1(TBX1):c.183G>T (p.Pro61=)
|
rs1422322991
|
|
|
NM_001379200.1(TBX1):c.185G>A (p.Cys62Tyr)
|
|
|
|
NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter)
|
rs2145827917
|
|
|
NM_001379200.1(TBX1):c.187GCC[3] (p.Ala66del)
|
|
|
|
NM_001379200.1(TBX1):c.187GCC[5] (p.Ala66dup)
|
rs1032291296
|
|
|
NM_001379200.1(TBX1):c.187GCC[6] (p.Ala65_Ala66dup)
|
rs1032291296
|
|
|
NM_001379200.1(TBX1):c.187GCC[7] (p.Ala64_Ala66dup)
|
rs1032291296
|
|
|
NM_001379200.1(TBX1):c.190G>C (p.Ala64Pro)
|
|
|
|
NM_001379200.1(TBX1):c.192C>G (p.Ala64=)
|
|
|
|
NM_001379200.1(TBX1):c.194_202del (p.Ala65_Pro67del)
|
rs1601283061
|
|
|
NM_001379200.1(TBX1):c.195C>A (p.Ala65=)
|
|
|
|
NM_001379200.1(TBX1):c.195_229del (p.Ala66fs)
|
rs2145827929
|
|
|
NM_001379200.1(TBX1):c.198_229dup (p.His77fs)
|
|
|
|
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs)
|
rs1936640897
|
|
|
NM_001379200.1(TBX1):c.199_227del (p.Pro67fs)
|
|
|
|
NM_001379200.1(TBX1):c.201dup (p.Gly68fs)
|
|
|
|
NM_001379200.1(TBX1):c.203G>A (p.Gly68Asp)
|
|
|
|
NM_001379200.1(TBX1):c.204C>A (p.Gly68=)
|
|
|
|
NM_001379200.1(TBX1):c.212G>A (p.Gly71Asp)
|
|
|
|
NM_001379200.1(TBX1):c.215C>T (p.Pro72Leu)
|
|
|
|
NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)
|
|
|
|
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup)
|
rs1009463279
|
|
|
NM_001379200.1(TBX1):c.215CGC[7] (p.Pro75_Pro76dup)
|
rs1009463279
|
|
|
NM_001379200.1(TBX1):c.218C>T (p.Pro73Leu)
|
rs1936642852
|
|
|
NM_001379200.1(TBX1):c.220C>T (p.Pro74Ser)
|
rs1936642931
|
|
|
NM_001379200.1(TBX1):c.221C>T (p.Pro74Leu)
|
|
|
|
NM_001379200.1(TBX1):c.224C>T (p.Pro75Leu)
|
|
|
|
NM_001379200.1(TBX1):c.225G>C (p.Pro75=)
|
|
|
|
NM_001379200.1(TBX1):c.227C>T (p.Pro76Leu)
|
|
|
|
NM_001379200.1(TBX1):c.228G>T (p.Pro76=)
|
|
|
|
NM_001379200.1(TBX1):c.230A>C (p.His77Pro)
|
|
|
|
NM_001379200.1(TBX1):c.230A>T (p.His77Leu)
|
|
|
|
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr)
|
rs1028072654
|
|
|
NM_001379200.1(TBX1):c.234C>T (p.Ala78=)
|
|
|
|
NM_001379200.1(TBX1):c.237C>T (p.Tyr79=)
|
|
|
|
NM_001379200.1(TBX1):c.239C>A (p.Pro80Gln)
|
|
|
|
NM_001379200.1(TBX1):c.239C>G (p.Pro80Arg)
|
rs984681986
|
|
|
NM_001379200.1(TBX1):c.240G>A (p.Pro80=)
|
|
|
|
NM_001379200.1(TBX1):c.243del (p.Phe81fs)
|
|
|
|
NM_001379200.1(TBX1):c.245C>A (p.Ala82Glu)
|
|
|
|
NM_001379200.1(TBX1):c.246G>T (p.Ala82=)
|
rs1201666534
|
|
|
NM_001379200.1(TBX1):c.247C>T (p.Pro83Ser)
|
|
|
|
NM_001379200.1(TBX1):c.253G>A (p.Ala85Thr)
|
rs769629385
|
|
|
NM_001379200.1(TBX1):c.258G>A (p.Gly86=)
|
|
|
|
NM_001379200.1(TBX1):c.258G>C (p.Gly86=)
|
|
|
|
NM_001379200.1(TBX1):c.259G>T (p.Ala87Ser)
|
|
|
|
NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)
|
|
|
|
NM_001379200.1(TBX1):c.265_276del (p.Thr89_Ala92del)
|
|
|
|
NM_001379200.1(TBX1):c.273C>T (p.Ala91=)
|
rs1936644941
|
|
|
NM_001379200.1(TBX1):c.277_278delinsAA (p.Ala93Asn)
|
|
|
|
NM_001379200.1(TBX1):c.284C>G (p.Pro95Arg)
|
rs775295536
|
|
|
NM_001379200.1(TBX1):c.285C>G (p.Pro95=)
|
|
|
|
NM_001379200.1(TBX1):c.290G>A (p.Gly97Asp)
|
|
|
|
NM_001379200.1(TBX1):c.292C>A (p.Pro98Thr)
|
|
|
|
NM_001379200.1(TBX1):c.294C>A (p.Pro98=)
|
|
|
|
NM_001379200.1(TBX1):c.297G>A (p.Gly99=)
|
|
|
|
NM_001379200.1(TBX1):c.302G>C (p.Ser101Thr)
|
|
|
|
NM_001379200.1(TBX1):c.304T>G (p.Cys102Gly)
|
|
|
|
NM_001379200.1(TBX1):c.306C>T (p.Cys102=)
|
|
|
|
NM_001379200.1(TBX1):c.310G>A (p.Ala104Thr)
|
rs1936647003
|
|
|
NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter)
|
rs1555895466
|
|
|
NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)
|
|
|
|
NM_001379200.1(TBX1):c.324G>T (p.Ala108=)
|
|
|
|
NM_001379200.1(TBX1):c.326C>T (p.Pro109Leu)
|
rs754087937
|
|
|
NM_001379200.1(TBX1):c.328G>T (p.Val110Leu)
|
rs1221938042
|
|
|
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del)
|
rs369050575
|
|
|
NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)
|
|
|
|
NM_001379200.1(TBX1):c.341C>T (p.Ala114Val)
|
|
|
|
NM_001379200.1(TBX1):c.353G>A (p.Gly118Asp)
|
|
|
|
NM_001379200.1(TBX1):c.363G>T (p.Val121=)
|
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|
|
NM_001379200.1(TBX1):c.366G>C (p.Gln122His)
|
|
|
|
NM_001379200.1(TBX1):c.369A>G (p.Leu123=)
|
rs541899328
|
|
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NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)
|
|
|
|
NM_001379200.1(TBX1):c.373A>T (p.Met125Leu)
|
|
|
|
NM_001379200.1(TBX1):c.380C>T (p.Ala127Val)
|
rs1601283489
|
|
|
NM_001379200.1(TBX1):c.381G>T (p.Ala127=)
|
|
|
|
NM_001379200.1(TBX1):c.390C>G (p.Asp130Glu)
|
rs772419022
|
|
|
NM_001379200.1(TBX1):c.399C>T (p.Asn133=)
|
rs2145828636
|
|
|
NM_001379200.1(TBX1):c.402G>C (p.Gln134His)
|
|
|
|
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)
|
rs1445910672
|
|
|
NM_001379200.1(TBX1):c.421G>C (p.Val141Leu)
|
|
|
|
NM_001379200.1(TBX1):c.428A>G (p.Lys143Arg)
|
|
|
|
NM_001379200.1(TBX1):c.429G>A (p.Lys143=)
|
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|
|
NM_001379200.1(TBX1):c.42G>T (p.Ser14=)
|
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|
|
NM_001379200.1(TBX1):c.432C>T (p.Ala144=)
|
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|
|
NM_001379200.1(TBX1):c.433G>A (p.Gly145Ser)
|
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|
|
NM_001379200.1(TBX1):c.437+18C>G
|
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NM_001379200.1(TBX1):c.437+18C>T
|
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NM_001379200.1(TBX1):c.437+20C>T
|
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NM_001379200.1(TBX1):c.437+3C>G
|
rs759797253
|
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|
NM_001379200.1(TBX1):c.437+3C>T
|
rs759797253
|
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|
NM_001379200.1(TBX1):c.437+8C>T
|
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NM_001379200.1(TBX1):c.438-14C>G
|
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|
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NM_001379200.1(TBX1):c.438-17G>A
|
|
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NM_001379200.1(TBX1):c.438-5C>A
|
rs972035685
|
|
|
NM_001379200.1(TBX1):c.438G>A (p.Arg146=)
|
rs2145832204
|
|
|
NM_001379200.1(TBX1):c.439C>T (p.Arg147Trp)
|
rs1936724586
|
|
|
NM_001379200.1(TBX1):c.447T>G (p.Phe149Leu)
|
rs41298814
|
|
|
NM_001379200.1(TBX1):c.448C>T (p.Pro150Ser)
|
rs1936725102
|
|
|
NM_001379200.1(TBX1):c.45T>C (p.His15=)
|
|
|
|
NM_001379200.1(TBX1):c.465G>A (p.Lys155=)
|
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|
NM_001379200.1(TBX1):c.465G>C (p.Lys155Asn)
|
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|
|
NM_001379200.1(TBX1):c.470T>C (p.Phe157Ser)
|
|
|
|
NM_001379200.1(TBX1):c.474C>T (p.Gly158=)
|
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|
NM_001379200.1(TBX1):c.483C>G (p.Pro161=)
|
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|
NM_001379200.1(TBX1):c.485T>C (p.Met162Thr)
|
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|
NM_001379200.1(TBX1):c.490G>A (p.Asp164Asn)
|
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|
|
NM_001379200.1(TBX1):c.496A>G (p.Met166Val)
|
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|
|
NM_001379200.1(TBX1):c.497T>C (p.Met166Thr)
|
|
|
|
NM_001379200.1(TBX1):c.49T>C (p.Cys17Arg)
|
|
|
|
NM_001379200.1(TBX1):c.502C>T (p.Leu168Phe)
|
|
|
|
NM_001379200.1(TBX1):c.507G>A (p.Met169Ile)
|
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|
|
NM_001379200.1(TBX1):c.510C>T (p.Asp170=)
|
|
|
|
NM_001379200.1(TBX1):c.511T>A (p.Phe171Ile)
|
rs2145832375
|
|
|
NM_001379200.1(TBX1):c.513C>T (p.Phe171=)
|
rs764371266
|
|
|
NM_001379200.1(TBX1):c.514G>A (p.Val172Met)
|
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|
|
NM_001379200.1(TBX1):c.514G>T (p.Val172Leu)
|
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|
NM_001379200.1(TBX1):c.518C>A (p.Pro173Gln)
|
rs766205381
|
|
|
NM_001379200.1(TBX1):c.518C>T (p.Pro173Leu)
|
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|
|
NM_001379200.1(TBX1):c.519G>T (p.Pro173=)
|
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|
NM_001379200.1(TBX1):c.51C>T (p.Cys17=)
|
rs2145827460
|
|
|
NM_001379200.1(TBX1):c.526G>A (p.Asp176Asn)
|
|
|
|
NM_001379200.1(TBX1):c.527A>G (p.Asp176Gly)
|
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|
|
NM_001379200.1(TBX1):c.538C>A (p.Arg180=)
|
rs746384751
|
|
|
NM_001379200.1(TBX1):c.538C>T (p.Arg180Trp)
|
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|
|
NM_001379200.1(TBX1):c.539+14dup
|
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|
NM_001379200.1(TBX1):c.539+16dup
|
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|
NM_001379200.1(TBX1):c.539+6C>T
|
|
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|
NM_001379200.1(TBX1):c.539+7G>C
|
rs780062926
|
|
|
NM_001379200.1(TBX1):c.539+8A>T
|
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|
|
NM_001379200.1(TBX1):c.539+8_539+10dup
|
rs2145832489
|
|
|
NM_001379200.1(TBX1):c.539G>A (p.Arg180Gln)
|
rs770313856
|
|
|
NM_001379200.1(TBX1):c.540-12G>C
|
|
|
|
NM_001379200.1(TBX1):c.540-18C>T
|
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|
|
NM_001379200.1(TBX1):c.546C>T (p.Ala182=)
|
rs1035684349
|
|
|
NM_001379200.1(TBX1):c.54C>G (p.Asp18Glu)
|
|
|
|
NM_001379200.1(TBX1):c.562T>C (p.Trp188Arg)
|
|
|
|
NM_001379200.1(TBX1):c.569T>C (p.Val190Ala)
|
|
|
|
NM_001379200.1(TBX1):c.570G>A (p.Val190=)
|
rs2145833805
|
|
|
NM_001379200.1(TBX1):c.571G>C (p.Ala191Pro)
|
|
|
|
NM_001379200.1(TBX1):c.573G>C (p.Ala191=)
|
|
|
|
NM_001379200.1(TBX1):c.591C>T (p.Ala197=)
|
rs1601289330
|
|
|
NM_001379200.1(TBX1):c.593C>T (p.Thr198Met)
|
|
|
|
NM_001379200.1(TBX1):c.595C>T (p.Pro199Ser)
|
|
|
|
NM_001379200.1(TBX1):c.597A>T (p.Pro199=)
|
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|
|
NM_001379200.1(TBX1):c.59C>T (p.Ala20Val)
|
|
|
|
NM_001379200.1(TBX1):c.603C>T (p.Arg201=)
|
rs761495882
|
|
|
NM_001379200.1(TBX1):c.604G>A (p.Val202Met)
|
|
|
|
NM_001379200.1(TBX1):c.606G>A (p.Val202=)
|
|
|
|
NM_001379200.1(TBX1):c.608A>G (p.His203Arg)
|
|
|
|
NM_001379200.1(TBX1):c.612C>T (p.Tyr204=)
|
|
|
|
NM_001379200.1(TBX1):c.615C>T (p.His205=)
|
|
|
|
NM_001379200.1(TBX1):c.616C>G (p.Pro206Ala)
|
|
|
|
NM_001379200.1(TBX1):c.627T>C (p.Pro209=)
|
|
|
|
NM_001379200.1(TBX1):c.638C>T (p.Ala213Val)
|
|
|
|
NM_001379200.1(TBX1):c.639G>A (p.Ala213=)
|
|
|
|
NM_001379200.1(TBX1):c.639G>T (p.Ala213=)
|
rs778071107
|
|
|
NM_001379200.1(TBX1):c.646A>G (p.Met216Val)
|
rs1224140312
|
|
|
NM_001379200.1(TBX1):c.654A>G (p.Gln218=)
|
rs2145834016
|
|
|
NM_001379200.1(TBX1):c.657C>A (p.Ile219=)
|
|
|
|
NM_001379200.1(TBX1):c.660G>A (p.Val220=)
|
|
|
|
NM_001379200.1(TBX1):c.667G>A (p.Asp223Asn)
|
rs2145834053
|
|
|
NM_001379200.1(TBX1):c.679C>T (p.Leu227=)
|
|
|
|
NM_001379200.1(TBX1):c.684C>A (p.Thr228=)
|
|
|
|
NM_001379200.1(TBX1):c.68C>A (p.Thr23Lys)
|
|
|
|
NM_001379200.1(TBX1):c.702C>T (p.Asp234=)
|
rs2145834112
|
|
|
NM_001379200.1(TBX1):c.706G>A (p.Gly236Ser)
|
rs1294894854
|
|
|
NM_001379200.1(TBX1):c.708C>G (p.Gly236=)
|
|
|
|
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr)
|
rs965143242
|
|
|
NM_001379200.1(TBX1):c.711+13C>T
|
|
|
|
NM_001379200.1(TBX1):c.711+16C>T
|
|
|
|
NM_001379200.1(TBX1):c.711+1G>A
|
rs1731409120
|
|
|
NM_001379200.1(TBX1):c.711+6C>T
|
|
|
|
NM_001379200.1(TBX1):c.712-12C>T
|
|
|
|
NM_001379200.1(TBX1):c.712-3C>T
|
|
|
|
NM_001379200.1(TBX1):c.712-4C>G
|
|
|
|
NM_001379200.1(TBX1):c.726C>T (p.Ser242=)
|
|
|
|
NM_001379200.1(TBX1):c.732C>T (p.His244=)
|
|
|
|
NM_001379200.1(TBX1):c.754G>A (p.Val252Met)
|
|
|
|
NM_001379200.1(TBX1):c.761A>C (p.Tyr254Ser)
|
|
|
|
NM_001379200.1(TBX1):c.761A>G (p.Tyr254Cys)
|
|
|
|
NM_001379200.1(TBX1):c.762T>C (p.Tyr254=)
|
|
|
|
NM_001379200.1(TBX1):c.764T>C (p.Val255Ala)
|
|
|
|
NM_001379200.1(TBX1):c.772C>T (p.Arg258Cys)
|
|
|
|
NM_001379200.1(TBX1):c.784G>C (p.Glu262Gln)
|
rs553807294
|
|
|
NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs)
|
rs2145835194
|
|
|
NM_001379200.1(TBX1):c.795C>T (p.Ala265=)
|
|
|
|
NM_001379200.1(TBX1):c.796G>A (p.Glu266Lys)
|
|
|
|
NM_001379200.1(TBX1):c.801G>T (p.Glu267Asp)
|
|
|
|
NM_001379200.1(TBX1):c.80T>G (p.Leu27Arg)
|
|
|
|
NM_001379200.1(TBX1):c.813C>T (p.Thr271=)
|
rs989667101
|
|
|
NM_001379200.1(TBX1):c.818T>G (p.Val273Gly)
|
|
|
|
NM_001379200.1(TBX1):c.820T>C (p.Phe274Leu)
|
|
|
|
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)
|
rs144848597
|
|
|
NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)
|
|
|
|
NM_001379200.1(TBX1):c.825G>C (p.Glu275Asp)
|
|
|
|
NM_001379200.1(TBX1):c.840C>G (p.Thr280=)
|
|
|
|
NM_001379200.1(TBX1):c.843G>A (p.Ala281=)
|
|
|
|
NM_001379200.1(TBX1):c.848C>G (p.Thr283Ser)
|
rs2145835312
|
|
|
NM_001379200.1(TBX1):c.867+12_867+24del
|
|
|
|
NM_001379200.1(TBX1):c.867+18G>A
|
|
|
|
NM_001379200.1(TBX1):c.867+7del
|
rs781488741
|
|
|
NM_001379200.1(TBX1):c.868-16A>T
|
|
|
|
NM_001379200.1(TBX1):c.868-19CA[3]
|
|
|
|
NM_001379200.1(TBX1):c.868-20T>G
|
rs2145836392
|
|
|
NM_001379200.1(TBX1):c.868-4G>A
|
|
|
|
NM_001379200.1(TBX1):c.868-6C>T
|
|
|
|
NM_001379200.1(TBX1):c.868-7C>T
|
|
|
|
NM_001379200.1(TBX1):c.870C>A (p.Ile290=)
|
|
|
|
NM_001379200.1(TBX1):c.876G>A (p.Gln292=)
|
|
|
|
NM_001379200.1(TBX1):c.881del (p.Lys294fs)
|
rs2145836457
|
|
|
NM_001379200.1(TBX1):c.884T>C (p.Ile295Thr)
|
|
|
|
NM_001379200.1(TBX1):c.897C>T (p.Pro299=)
|
|
|
|
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)
|
rs1936634853
|
|
|
NM_001379200.1(TBX1):c.909C>T (p.Gly303=)
|
|
|
|
NM_001379200.1(TBX1):c.911T>C (p.Phe304Ser)
|
|
|
|
NM_001379200.1(TBX1):c.925C>A (p.Pro309Thr)
|
rs1936813859
|
|
|
NM_001379200.1(TBX1):c.925C>T (p.Pro309Ser)
|
|
|
|
NM_001379200.1(TBX1):c.92G>T (p.Gly31Val)
|
|
|
|
NM_001379200.1(TBX1):c.930G>A (p.Glu310=)
|
rs1185050794
|
|
|
NM_001379200.1(TBX1):c.935+14C>T
|
|
|
|
NM_001379200.1(TBX1):c.935+15C>T
|
|
|
|
NM_001379200.1(TBX1):c.935+16C>A
|
rs200879129
|
|
|
NM_001379200.1(TBX1):c.935+16dup
|
|
|
|
NM_001379200.1(TBX1):c.935+17G>A
|
|
|
|
NM_001379200.1(TBX1):c.935+17GA[2]
|
rs770044781
|
|
|
NM_001379200.1(TBX1):c.935+17del
|
|
|
|
NM_001379200.1(TBX1):c.935+18_935+32dup
|
|
|
|
NM_001379200.1(TBX1):c.935+19G>C
|
|
|
|
NM_001379200.1(TBX1):c.936-15G>A
|
|
|
|
NM_001379200.1(TBX1):c.936-15G>C
|
|
|
|
NM_001379200.1(TBX1):c.936-16C>A
|
|
|
|
NM_001379200.1(TBX1):c.936-4G>C
|
|
|
|
NM_001379200.1(TBX1):c.936-6C>T
|
|
|
|
NM_001379200.1(TBX1):c.936-8G>A
|
rs753380966
|
|
|
NM_001379200.1(TBX1):c.936-9C>G
|
|
|
|
NM_001379200.1(TBX1):c.936-9C>T
|
|
|
|
NM_001379200.1(TBX1):c.936-9del
|
rs763127510
|
|
|
NM_001379200.1(TBX1):c.938C>A (p.Pro313His)
|
rs1014592830
|
|
|
NM_001379200.1(TBX1):c.938C>T (p.Pro313Leu)
|
|
|
|
NM_001379200.1(TBX1):c.942G>T (p.Arg314=)
|
|
|
|
NM_001379200.1(TBX1):c.949C>G (p.Arg317Gly)
|
|
|
|
NM_001379200.1(TBX1):c.950G>T (p.Arg317Leu)
|
|
|
|
NM_001379200.1(TBX1):c.954_965del (p.Gly319_Pro322del)
|
|
|
|
NM_001379200.1(TBX1):c.955G>T (p.Gly319Cys)
|
rs41298838
|
|
|
NM_001379200.1(TBX1):c.965C>A (p.Pro322Gln)
|
|
|
|
NM_001379200.1(TBX1):c.965C>G (p.Pro322Arg)
|
|
|
|
NM_001379200.1(TBX1):c.966G>A (p.Pro322=)
|
|
|
|
NM_001379200.1(TBX1):c.971T>G (p.Met324Arg)
|
|
|
|
NM_001379200.1(TBX1):c.972G>C (p.Met324Ile)
|
|
|
|
NM_001379200.1(TBX1):c.974G>C (p.Ser325Thr)
|
rs775788782
|
|
|
NM_001379200.1(TBX1):c.985C>T (p.Arg329Cys)
|
rs773107514
|
|
|
NM_001379200.1(TBX1):c.990G>A (p.Ser330=)
|
|
|
|
NM_001379200.1(TBX1):c.993G>A (p.Arg331=)
|
|
|
|
NM_001379200.1(TBX1):c.997C>G (p.Pro333Ala)
|
|
|
|
NM_003106.4(SOX2):c.113C>T (p.Pro38Leu)
|
rs2108521561
|
|
|
NM_003106.4(SOX2):c.137A>G (p.Asn46Ser)
|
|
|
|
NM_003106.4(SOX2):c.142_144del (p.Phe48del)
|
|
|
|
NM_003106.4(SOX2):c.143T>C (p.Phe48Ser)
|
rs1714843059
|
|
|
NM_003106.4(SOX2):c.150G>A (p.Val50=)
|
rs145732415
|
|
|
NM_003106.4(SOX2):c.157dup (p.Arg53fs)
|
rs1553862958
|
|
|
NM_003106.4(SOX2):c.166C>T (p.Arg56Trp)
|
rs1560264293
|
|
|
NM_003106.4(SOX2):c.175del (p.Met59fs)
|
rs2108521702
|
|
|
NM_003106.4(SOX2):c.203A>G (p.Asn68Ser)
|
|
|
|
NM_003106.4(SOX2):c.21G>C (p.Thr7=)
|
|
|
|
NM_003106.4(SOX2):c.22G>T (p.Glu8Ter)
|
rs1208628241
|
|
|
NM_003106.4(SOX2):c.244_245del (p.Leu82fs)
|
rs1553862971
|
|
|
NM_003106.4(SOX2):c.255G>A (p.Thr85=)
|
|
|
|
NM_003106.4(SOX2):c.256G>T (p.Glu86Ter)
|
|
|
|
NM_003106.4(SOX2):c.25del (p.Glu8_Leu9insTer)
|
|
|
|
NM_003106.4(SOX2):c.266C>A (p.Pro89Gln)
|
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NM_003106.4(SOX2):c.287G>C (p.Arg96Pro)
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rs1714847764
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NM_003106.4(SOX2):c.310G>T (p.Glu104Ter)
|
rs1260218988
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NM_003106.4(SOX2):c.328_329del (p.Tyr110fs)
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NM_003106.4(SOX2):c.337C>T (p.Arg113Trp)
|
rs1560264395
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NM_003106.4(SOX2):c.348C>A (p.Thr116=)
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NM_003106.4(SOX2):c.36G>C (p.Pro12=)
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NM_003106.4(SOX2):c.384del (p.Gly129fs)
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NM_003106.4(SOX2):c.388_391del (p.Gly130fs)
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rs1714851160
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NM_003106.4(SOX2):c.398C>G (p.Ala133Gly)
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NM_003106.4(SOX2):c.39C>A (p.Gly13=)
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NM_003106.4(SOX2):c.3dup (p.Tyr2fs)
|
rs1714833474
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NM_003106.4(SOX2):c.423C>T (p.Ser141=)
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NM_003106.4(SOX2):c.424G>C (p.Gly142Arg)
|
rs1560264525
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NM_003106.4(SOX2):c.441C>T (p.Ala147=)
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NM_003106.4(SOX2):c.453G>C (p.Ala151=)
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NM_003106.4(SOX2):c.462C>A (p.Asn154Lys)
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NM_003106.4(SOX2):c.468C>T (p.Arg156=)
|
rs2108522598
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NM_003106.4(SOX2):c.474C>G (p.Asp158Glu)
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NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter)
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rs55683010
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NM_003106.4(SOX2):c.480del (p.Ser159_Tyr160insTer)
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NM_003106.4(SOX2):c.487A>G (p.Met163Val)
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NM_003106.4(SOX2):c.492C>T (p.Asn164=)
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NM_003106.4(SOX2):c.497G>A (p.Trp166Ter)
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rs2108522646
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NM_003106.4(SOX2):c.505G>A (p.Gly169Ser)
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NM_003106.4(SOX2):c.506G>A (p.Gly169Asp)
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NM_003106.4(SOX2):c.513_514dup (p.Ser172fs)
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NM_003106.4(SOX2):c.52_53delinsAA (p.Ser18Lys)
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NM_003106.4(SOX2):c.536G>T (p.Gly179Val)
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NM_003106.4(SOX2):c.537_538insGGGTA (p.Tyr180fs)
|
rs2108522776
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NM_003106.4(SOX2):c.540C>G (p.Tyr180Ter)
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rs771521201
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NM_003106.4(SOX2):c.552G>A (p.Pro184=)
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NM_003106.4(SOX2):c.555C>A (p.Gly185=)
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NM_003106.4(SOX2):c.573A>G (p.Ala191=)
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NM_003106.4(SOX2):c.591G>A (p.Met197Ile)
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NM_003106.4(SOX2):c.600C>T (p.Tyr200=)
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NM_003106.4(SOX2):c.67_89dup (p.Gly31fs)
|
rs1560264167
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NM_003106.4(SOX2):c.68G>T (p.Gly23Val)
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NM_003106.4(SOX2):c.694A>G (p.Thr232Ala)
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NM_003106.4(SOX2):c.69C>G (p.Gly23=)
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NM_003106.4(SOX2):c.700G>A (p.Gly234Ser)
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NM_003106.4(SOX2):c.70_86del (p.Asn24fs)
|
rs1553862927
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NM_003106.4(SOX2):c.70_89del (p.Asn24fs)
|
rs398123693
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NM_003106.4(SOX2):c.742G>T (p.Ala248Ser)
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NM_003106.4(SOX2):c.790C>A (p.Pro264Thr)
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NM_003106.4(SOX2):c.819G>C (p.Met273Ile)
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NM_003106.4(SOX2):c.81G>C (p.Ala27=)
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NM_003106.4(SOX2):c.828G>C (p.Met276Ile)
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NM_003106.4(SOX2):c.837C>T (p.Pro279=)
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NM_003106.4(SOX2):c.841_860delinsACCTCGG (p.Ala281fs)
|
rs1560264973
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NM_003106.4(SOX2):c.842C>G (p.Ala281Gly)
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NM_003106.4(SOX2):c.843C>T (p.Ala281=)
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NM_003106.4(SOX2):c.849G>A (p.Val283=)
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NM_003106.4(SOX2):c.852G>A (p.Pro284=)
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NM_003106.4(SOX2):c.859G>C (p.Ala287Pro)
|
rs760688357
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NM_003106.4(SOX2):c.85G>A (p.Ala29Thr)
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NM_003106.4(SOX2):c.861C>G (p.Ala287=)
|
rs199971071
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NM_003106.4(SOX2):c.861C>T (p.Ala287=)
|
rs199971071
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NM_003106.4(SOX2):c.890A>G (p.His297Arg)
|
rs1338979266
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NM_003106.4(SOX2):c.909G>C (p.Val303=)
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NM_003106.4(SOX2):c.912C>T (p.Pro304=)
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NM_003106.4(SOX2):c.92G>T (p.Gly31Val)
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NM_003106.4(SOX2):c.933A>T (p.Thr311=)
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NM_003106.4(SOX2):c.936G>A (p.Leu312=)
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NM_005996.4(TBX3):c.1007C>T (p.Ala336Val)
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NM_005996.4(TBX3):c.100C>T (p.Leu34=)
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NM_005996.4(TBX3):c.1016C>T (p.Thr339Ile)
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NM_005996.4(TBX3):c.1018G>A (p.Val340Ile)
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NM_005996.4(TBX3):c.1025C>T (p.Thr342Ile)
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NM_005996.4(TBX3):c.1038dup (p.Asp347fs)
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NM_005996.4(TBX3):c.1039+14C>T
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NM_005996.4(TBX3):c.1039+1G>A
|
rs1868706209
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NM_005996.4(TBX3):c.1039+6C>A
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NM_005996.4(TBX3):c.1039G>T (p.Asp347Tyr)
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NM_005996.4(TBX3):c.1040-4G>A
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NM_005996.4(TBX3):c.1044A>G (p.Leu348=)
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NM_005996.4(TBX3):c.1052G>T (p.Ser351Ile)
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NM_005996.4(TBX3):c.1069G>C (p.Ala357Pro)
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NM_005996.4(TBX3):c.1069GCCGAG[1] (p.357AE[1])
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NM_005996.4(TBX3):c.1070_1080del (p.Ala357fs)
|
rs1237767989
|
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NM_005996.4(TBX3):c.1071C>G (p.Ala357=)
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NM_005996.4(TBX3):c.1078G>C (p.Glu360Gln)
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NM_005996.4(TBX3):c.1087G>A (p.Glu363Lys)
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NM_005996.4(TBX3):c.1097_1098delinsTT (p.Gly366Val)
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NM_005996.4(TBX3):c.1098C>G (p.Gly366=)
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NM_005996.4(TBX3):c.1136C>T (p.Thr379Met)
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NM_005996.4(TBX3):c.1143G>A (p.Glu381=)
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NM_005996.4(TBX3):c.1147C>T (p.Pro383Ser)
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NM_005996.4(TBX3):c.1148C>T (p.Pro383Leu)
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NM_005996.4(TBX3):c.1151G>C (p.Cys384Ser)
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NM_005996.4(TBX3):c.1153C>G (p.Arg385Gly)
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NM_005996.4(TBX3):c.1153C>T (p.Arg385Cys)
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NM_005996.4(TBX3):c.1161G>C (p.Lys387Asn)
|
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NM_005996.4(TBX3):c.1170C>G (p.Pro390=)
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NM_005996.4(TBX3):c.1172C>G (p.Ala391Gly)
|
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NM_005996.4(TBX3):c.1173G>A (p.Ala391=)
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NM_005996.4(TBX3):c.1176C>A (p.Val392=)
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NM_005996.4(TBX3):c.1190T>C (p.Phe397Ser)
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NM_005996.4(TBX3):c.1204C>T (p.Pro402Ser)
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NM_005996.4(TBX3):c.1216G>A (p.Gly406Arg)
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NM_005996.4(TBX3):c.1236G>A (p.Ser412=)
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NM_005996.4(TBX3):c.1236_1237delinsTT (p.Pro413Ser)
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NM_005996.4(TBX3):c.1237C>T (p.Pro413Ser)
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NM_005996.4(TBX3):c.1240G>A (p.Asp414Asn)
|
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NM_005996.4(TBX3):c.1244C>T (p.Ser415Leu)
|
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NM_005996.4(TBX3):c.1258G>T (p.Ala420Ser)
|
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NM_005996.4(TBX3):c.1272C>A (p.Ser424=)
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NM_005996.4(TBX3):c.1272C>T (p.Ser424=)
|
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NM_005996.4(TBX3):c.127G>A (p.Ala43Thr)
|
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NM_005996.4(TBX3):c.1281C>T (p.Arg427=)
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NM_005996.4(TBX3):c.1287G>A (p.Leu429=)
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NM_005996.4(TBX3):c.1292C>T (p.Ala431Val)
|
rs565848855
|
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NM_005996.4(TBX3):c.12C>G (p.Ser4=)
|
|
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NM_005996.4(TBX3):c.1310C>T (p.Pro437Leu)
|
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NM_005996.4(TBX3):c.1311G>A (p.Pro437=)
|
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NM_005996.4(TBX3):c.1312G>A (p.Val438Ile)
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NM_005996.4(TBX3):c.1317C>T (p.Arg439=)
|
rs1162533759
|
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NM_005996.4(TBX3):c.1324A>G (p.Thr442Ala)
|
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|
NM_005996.4(TBX3):c.1326A>T (p.Thr442=)
|
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NM_005996.4(TBX3):c.1328C>T (p.Ala443Val)
|
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NM_005996.4(TBX3):c.1329G>A (p.Ala443=)
|
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NM_005996.4(TBX3):c.1329G>C (p.Ala443=)
|
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NM_005996.4(TBX3):c.1330_1332del (p.Pro444del)
|
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|
NM_005996.4(TBX3):c.1339G>A (p.Val447Met)
|
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NM_005996.4(TBX3):c.1345G>C (p.Glu449Gln)
|
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NM_005996.4(TBX3):c.1349C>T (p.Ala450Val)
|
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NM_005996.4(TBX3):c.1350G>A (p.Ala450=)
|
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|
|
NM_005996.4(TBX3):c.1357C>G (p.Leu453Val)
|
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|
NM_005996.4(TBX3):c.1361C>G (p.Pro454Arg)
|
|
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|
NM_005996.4(TBX3):c.1361C>T (p.Pro454Leu)
|
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|
NM_005996.4(TBX3):c.1374C>T (p.Ala458=)
|
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|
NM_005996.4(TBX3):c.1377C>T (p.Phe459=)
|
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|
NM_005996.4(TBX3):c.1382C>G (p.Pro461Arg)
|
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|
|
NM_005996.4(TBX3):c.1388C>T (p.Thr463Met)
|
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|
NM_005996.4(TBX3):c.1402G>A (p.Ala468Thr)
|
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NM_005996.4(TBX3):c.1403C>T (p.Ala468Val)
|
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|
|
NM_005996.4(TBX3):c.1404G>A (p.Ala468=)
|
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|
NM_005996.4(TBX3):c.1408G>A (p.Ala470Thr)
|
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|
NM_005996.4(TBX3):c.140C>T (p.Pro47Leu)
|
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|
NM_005996.4(TBX3):c.1410C>T (p.Ala470=)
|
|
|
|
NM_005996.4(TBX3):c.1411G>A (p.Ala471Thr)
|
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|
|
NM_005996.4(TBX3):c.1427G>T (p.Gly476Val)
|
|
|
|
NM_005996.4(TBX3):c.1428C>G (p.Gly476=)
|
rs1279373184
|
|
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NM_005996.4(TBX3):c.1429_1430delinsAA (p.Pro477Asn)
|
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|
NM_005996.4(TBX3):c.1443C>T (p.Leu481=)
|
rs1171297655
|
|
|
NM_005996.4(TBX3):c.1450G>A (p.Ala484Thr)
|
|
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|
NM_005996.4(TBX3):c.1450_1451delinsAA (p.Ala484Asn)
|
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|
NM_005996.4(TBX3):c.1462G>A (p.Ala488Thr)
|
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|
NM_005996.4(TBX3):c.1479C>T (p.Phe493=)
|
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|
NM_005996.4(TBX3):c.1482C>A (p.Asn494Lys)
|
|
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|
NM_005996.4(TBX3):c.1482C>T (p.Asn494=)
|
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|
NM_005996.4(TBX3):c.1484G>A (p.Gly495Glu)
|
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|
NM_005996.4(TBX3):c.1504C>G (p.Pro502Ala)
|
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|
NM_005996.4(TBX3):c.1506C>T (p.Pro502=)
|
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|
NM_005996.4(TBX3):c.1519A>G (p.Met507Val)
|
|
|
|
NM_005996.4(TBX3):c.151G>A (p.Ala51Thr)
|
rs1565862637
|
|
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NM_005996.4(TBX3):c.1540A>G (p.Met514Val)
|
|
|
|
NM_005996.4(TBX3):c.1544C>T (p.Ala515Val)
|
|
|
|
NM_005996.4(TBX3):c.1556T>C (p.Met519Thr)
|
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|
NM_005996.4(TBX3):c.1558G>A (p.Gly520Ser)
|
|
|
|
NM_005996.4(TBX3):c.155C>T (p.Ala52Val)
|
|
|
|
NM_005996.4(TBX3):c.1561C>A (p.Pro521Thr)
|
|
|
|
NM_005996.4(TBX3):c.1572C>A (p.Ala524=)
|
rs754628743
|
|
|
NM_005996.4(TBX3):c.1587C>G (p.Ala529=)
|
|
|
|
NM_005996.4(TBX3):c.1593C>G (p.Thr531=)
|
|
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|
NM_005996.4(TBX3):c.1599C>G (p.Val533=)
|
|
|
|
NM_005996.4(TBX3):c.1606C>T (p.Leu536=)
|
rs2121382308
|
|
|
NM_005996.4(TBX3):c.1614C>T (p.Ser538=)
|
|
|
|
NM_005996.4(TBX3):c.1617G>A (p.Thr539=)
|
|
|
|
NM_005996.4(TBX3):c.1621A>G (p.Met541Val)
|
|
|
|
NM_005996.4(TBX3):c.1628C>T (p.Ser543Phe)
|
rs1868589289
|
|
|
NM_005996.4(TBX3):c.1641G>A (p.Ala547=)
|
|
|
|
NM_005996.4(TBX3):c.1645G>A (p.Gly549Arg)
|
|
|
|
NM_005996.4(TBX3):c.1657G>C (p.Ala553Pro)
|
|
|
|
NM_005996.4(TBX3):c.1663G>A (p.Ala555Thr)
|
|
|
|
NM_005996.4(TBX3):c.1682A>G (p.His561Arg)
|
|
|
|
NM_005996.4(TBX3):c.1688A>G (p.Gln563Arg)
|
|
|
|
NM_005996.4(TBX3):c.1698C>T (p.Val566=)
|
|
|
|
NM_005996.4(TBX3):c.1710+13C>G
|
|
|
|
NM_005996.4(TBX3):c.1710+5G>A
|
rs747911438
|
|
|
NM_005996.4(TBX3):c.1710+6G>C
|
|
|
|
NM_005996.4(TBX3):c.1711-17C>G
|
|
|
|
NM_005996.4(TBX3):c.1711-17C>T
|
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|
|
NM_005996.4(TBX3):c.1711-19G>A
|
|
|
|
NM_005996.4(TBX3):c.1711-6C>T
|
|
|
|
NM_005996.4(TBX3):c.1714C>T (p.Leu572=)
|
|
|
|
NM_005996.4(TBX3):c.1719C>T (p.Ala573=)
|
|
|
|
NM_005996.4(TBX3):c.1726C>T (p.Pro576Ser)
|
|
|
|
NM_005996.4(TBX3):c.1757C>T (p.Thr586Met)
|
|
|
|
NM_005996.4(TBX3):c.1758G>A (p.Thr586=)
|
|
|
|
NM_005996.4(TBX3):c.1762A>G (p.Met588Val)
|
|
|
|
NM_005996.4(TBX3):c.1767_1775del (p.Ala592_Ala594del)
|
|
|
|
NM_005996.4(TBX3):c.1780_1797dup (p.Ala599_Ser600insAlaSerSerAlaAlaAla)
|
|
|
|
NM_005996.4(TBX3):c.1782C>T (p.Ala594=)
|
|
|
|
NM_005996.4(TBX3):c.1811A>G (p.His604Arg)
|
|
|
|
NM_005996.4(TBX3):c.1821C>T (p.Pro607=)
|
|
|
|
NM_005996.4(TBX3):c.1829A>G (p.Asn610Ser)
|
|
|
|
NM_005996.4(TBX3):c.1836C>G (p.Asn612Lys)
|
|
|
|
NM_005996.4(TBX3):c.1843C>A (p.Arg615Ser)
|
|
|
|
NM_005996.4(TBX3):c.1858T>C (p.Tyr620His)
|
rs1352791776
|
|
|
NM_005996.4(TBX3):c.1875C>G (p.Ile625Met)
|
|
|
|
NM_005996.4(TBX3):c.189G>T (p.Pro63=)
|
rs567918907
|
|
|
NM_005996.4(TBX3):c.1903C>T (p.Leu635=)
|
|
|
|
NM_005996.4(TBX3):c.1912A>G (p.Thr638Ala)
|
|
|
|
NM_005996.4(TBX3):c.1914C>T (p.Thr638=)
|
|
|
|
NM_005996.4(TBX3):c.1923C>T (p.Pro641=)
|
|
|
|
NM_005996.4(TBX3):c.1931C>T (p.Ala644Val)
|
|
|
|
NM_005996.4(TBX3):c.1934C>T (p.Ala645Val)
|
|
|
|
NM_005996.4(TBX3):c.1937C>T (p.Ala646Val)
|
|
|
|
NM_005996.4(TBX3):c.1940C>A (p.Ala647Glu)
|
|
|
|
NM_005996.4(TBX3):c.1944G>A (p.Gly648=)
|
|
|
|
NM_005996.4(TBX3):c.1947C>A (p.Pro649=)
|
|
|
|
NM_005996.4(TBX3):c.1955G>T (p.Gly652Val)
|
|
|
|
NM_005996.4(TBX3):c.1966G>A (p.Ala656Thr)
|
|
|
|
NM_005996.4(TBX3):c.1969C>G (p.Leu657Val)
|
|
|
|
NM_005996.4(TBX3):c.1969_1977del (p.Leu657_Ala659del)
|
|
|
|
NM_005996.4(TBX3):c.1976C>A (p.Ala659Asp)
|
|
|
|
NM_005996.4(TBX3):c.1995A>G (p.Ala665=)
|
|
|
|
NM_005996.4(TBX3):c.19G>T (p.Asp7Tyr)
|
|
|
|
NM_005996.4(TBX3):c.2000A>G (p.Asp667Gly)
|
rs772542059
|
|
|
NM_005996.4(TBX3):c.2001C>A (p.Asp667Glu)
|
|
|
|
NM_005996.4(TBX3):c.2003C>T (p.Ser668Leu)
|
|
|
|
NM_005996.4(TBX3):c.2007C>T (p.Gly669=)
|
|
|
|
NM_005996.4(TBX3):c.2018A>G (p.Asn673Ser)
|
|
|
|
NM_005996.4(TBX3):c.2033_2044dup (p.Ser681_Ser682insThrLeuSerSer)
|
|
|
|
NM_005996.4(TBX3):c.2041_2091del (p.Ser681_Ala697del)
|
|
|
|
NM_005996.4(TBX3):c.2045G>A (p.Ser682Asn)
|
|
|
|
NM_005996.4(TBX3):c.2046C>T (p.Ser682=)
|
|
|
|
NM_005996.4(TBX3):c.2060C>T (p.Ser687Leu)
|
|
|
|
NM_005996.4(TBX3):c.2068C>G (p.Leu690Val)
|
|
|
|
NM_005996.4(TBX3):c.2069T>C (p.Leu690Pro)
|
|
|
|
NM_005996.4(TBX3):c.2076G>A (p.Ala692=)
|
|
|
|
NM_005996.4(TBX3):c.2087C>T (p.Ala696Val)
|
|
|
|
NM_005996.4(TBX3):c.2088G>A (p.Ala696=)
|
|
|
|
NM_005996.4(TBX3):c.2093C>A (p.Thr698Asn)
|
|
|
|
NM_005996.4(TBX3):c.2096G>A (p.Ser699Asn)
|
|
|
|
NM_005996.4(TBX3):c.2114A>G (p.Gln705Arg)
|
|
|
|
NM_005996.4(TBX3):c.2146G>A (p.Asp716Asn)
|
|
|
|
NM_005996.4(TBX3):c.2155C>A (p.Arg719Ser)
|
|
|
|
NM_005996.4(TBX3):c.2160C>T (p.Ser720=)
|
|
|
|
NM_005996.4(TBX3):c.2161G>C (p.Ala721Pro)
|
|
|
|
NM_005996.4(TBX3):c.2172G>A (p.Ter724=)
|
|
|
|
NM_005996.4(TBX3):c.230C>G (p.Pro77Arg)
|
|
|
|
NM_005996.4(TBX3):c.246G>A (p.Gly82=)
|
|
|
|
NM_005996.4(TBX3):c.24G>T (p.Pro8=)
|
|
|
|
NM_005996.4(TBX3):c.255G>T (p.Ala85=)
|
|
|
|
NM_005996.4(TBX3):c.264G>C (p.Arg88Ser)
|
rs1460980304
|
|
|
NM_005996.4(TBX3):c.282G>A (p.Glu94=)
|
|
|
|
NM_005996.4(TBX3):c.283C>T (p.Pro95Ser)
|
|
|
|
NM_005996.4(TBX3):c.336T>G (p.Leu112=)
|
rs775913626
|
|
|
NM_005996.4(TBX3):c.341A>T (p.Asp114Val)
|
|
|
|
NM_005996.4(TBX3):c.366G>A (p.Glu122=)
|
|
|
|
NM_005996.4(TBX3):c.378C>T (p.Thr126=)
|
|
|
|
NM_005996.4(TBX3):c.389+20_389+22del
|
|
|
|
NM_005996.4(TBX3):c.390-17A>G
|
|
|
|
NM_005996.4(TBX3):c.390-4A>G
|
|
|
|
NM_005996.4(TBX3):c.419G>A (p.Cys140Tyr)
|
|
|
|
NM_005996.4(TBX3):c.438dup (p.Ala147fs)
|
|
|
|
NM_005996.4(TBX3):c.457A>G (p.Met153Val)
|
|
|
|
NM_005996.4(TBX3):c.457A>T (p.Met153Leu)
|
rs1868907183
|
|
|
NM_005996.4(TBX3):c.46G>T (p.Ala16Ser)
|
|
|
|
NM_005996.4(TBX3):c.505C>T (p.Arg169Trp)
|
|
|
|
NM_005996.4(TBX3):c.510G>A (p.Trp170Ter)
|
|
|
|
NM_005996.4(TBX3):c.53A>G (p.His18Arg)
|
|
|
|
NM_005996.4(TBX3):c.546G>A (p.Lys182=)
|
|
|
|
NM_005996.4(TBX3):c.549G>A (p.Arg183=)
|
|
|
|
NM_005996.4(TBX3):c.556A>G (p.Ile186Val)
|
|
|
|
NM_005996.4(TBX3):c.559C>G (p.His187Asp)
|
|
|
|
NM_005996.4(TBX3):c.562C>T (p.Pro188Ser)
|
|
|
|
NM_005996.4(TBX3):c.564G>A (p.Pro188=)
|
|
|
|
NM_005996.4(TBX3):c.564G>C (p.Pro188=)
|
|
|
|
NM_005996.4(TBX3):c.582G>A (p.Gly194=)
|
|
|
|
NM_005996.4(TBX3):c.5G>C (p.Ser2Thr)
|
|
|
|
NM_005996.4(TBX3):c.604G>A (p.Val202Ile)
|
|
|
|
NM_005996.4(TBX3):c.613C>T (p.His205Tyr)
|
|
|
|
NM_005996.4(TBX3):c.627C>G (p.Leu209=)
|
|
|
|
NM_005996.4(TBX3):c.658-20C>T
|
|
|
|
NM_005996.4(TBX3):c.673A>G (p.Met225Val)
|
rs2121396420
|
|
|
NM_005996.4(TBX3):c.704dup (p.Arg236fs)
|
|
|
|
NM_005996.4(TBX3):c.713A>G (p.Asn238Ser)
|
|
|
|
NM_005996.4(TBX3):c.71G>A (p.Arg24Gln)
|
|
|
|
NM_005996.4(TBX3):c.725A>G (p.Lys242Arg)
|
|
|
|
NM_005996.4(TBX3):c.735T>C (p.Tyr245=)
|
|
|
|
NM_005996.4(TBX3):c.736A>G (p.Ser246Gly)
|
|
|
|
NM_005996.4(TBX3):c.741A>G (p.Thr247=)
|
|
|
|
NM_005996.4(TBX3):c.746G>A (p.Arg249Gln)
|
|
|
|
NM_005996.4(TBX3):c.752A>T (p.Tyr251Phe)
|
|
|
|
NM_005996.4(TBX3):c.756G>C (p.Leu252Phe)
|
|
|
|
NM_005996.4(TBX3):c.762C>T (p.Pro254=)
|
|
|
|
NM_005996.4(TBX3):c.789A>T (p.Ala263=)
|
|
|
|
NM_005996.4(TBX3):c.804+18del
|
rs568882435
|
|
|
NM_005996.4(TBX3):c.828C>T (p.Asn276=)
|
|
|
|
NM_005996.4(TBX3):c.850C>T (p.Arg284Trp)
|
|
|
|
NM_005996.4(TBX3):c.858T>C (p.Thr286=)
|
|
|
|
NM_005996.4(TBX3):c.867C>T (p.Gly289=)
|
|
|
|
NM_005996.4(TBX3):c.870A>C (p.Arg290=)
|
|
|
|
NM_005996.4(TBX3):c.881+14_881+17del
|
rs139956231
|
|
|
NM_005996.4(TBX3):c.881+18T>C
|
|
|
|
NM_005996.4(TBX3):c.882-19G>A
|
|
|
|
NM_005996.4(TBX3):c.882-4A>G
|
|
|
|
NM_005996.4(TBX3):c.891C>T (p.Leu297=)
|
rs1467649442
|
|
|
NM_005996.4(TBX3):c.894C>T (p.Thr298=)
|
|
|
|
NM_005996.4(TBX3):c.904A>G (p.Met302Val)
|
|
|
|
NM_005996.4(TBX3):c.927C>G (p.His309Gln)
|
|
|
|
NM_005996.4(TBX3):c.96_97delinsCT (p.Val33Leu)
|
|
|
|
NM_005996.4(TBX3):c.973G>A (p.Ala325Thr)
|
|
|
|
NM_005996.4(TBX3):c.987C>T (p.Phe329=)
|
|
|
|
NM_005996.4(TBX3):c.988G>A (p.Ala330Thr)
|
|
|
|
NM_006147.4(IRF6):c.1045G>T (p.Glu349Ter)
|
rs2102536764
|
|
|
NM_006147.4(IRF6):c.1052T>C (p.Phe351Ser)
|
rs1224922793
|
|
|
NM_006147.4(IRF6):c.1053C>A (p.Phe351Leu)
|
|
|
|
NM_006147.4(IRF6):c.1055T>G (p.Leu352Arg)
|
rs1553247744
|
|
|
NM_006147.4(IRF6):c.1059C>T (p.Ser353=)
|
|
|
|
NM_006147.4(IRF6):c.1060+1G>A
|
rs781506407
|
|
|
NM_006147.4(IRF6):c.1060+2T>C
|
|
|
|
NM_006147.4(IRF6):c.1061-10C>G
|
|
|
|
NM_006147.4(IRF6):c.1061-1G>T
|
|
|
|
NM_006147.4(IRF6):c.1061-7T>C
|
|
|
|
NM_006147.4(IRF6):c.1089del (p.Ile363fs)
|
|
|
|
NM_006147.4(IRF6):c.108_109delinsG (p.Phe36fs)
|
rs2077940243
|
|
|
NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr)
|
rs2077857680
|
|
|
NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser)
|
rs2077857559
|
|
|
NM_006147.4(IRF6):c.1166T>C (p.Leu389Pro)
|
|
|
|
NM_006147.4(IRF6):c.1190T>C (p.Val397Ala)
|
|
|
|
NM_006147.4(IRF6):c.1195del (p.Ala399fs)
|
rs1553247602
|
|
|
NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp)
|
rs28942095
|
|
|
NM_006147.4(IRF6):c.120G>T (p.Trp40Cys)
|
rs1553248635
|
|
|
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)
|
rs769068305
|
|
|
NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter)
|
rs1553247595
|
|
|
NM_006147.4(IRF6):c.1239C>A (p.Ser413=)
|
|
|
|
NM_006147.4(IRF6):c.1247G>A (p.Ser416Asn)
|
|
|
|
NM_006147.4(IRF6):c.1259G>A (p.Arg420His)
|
|
|
|
NM_006147.4(IRF6):c.1268T>G (p.Ile423Ser)
|
rs1553247592
|
|
|
NM_006147.4(IRF6):c.1270T>G (p.Ser424Ala)
|
rs2077848377
|
|
|
NM_006147.4(IRF6):c.1275C>T (p.Thr425=)
|
|
|
|
NM_006147.4(IRF6):c.1311G>A (p.Lys437=)
|
|
|
|
NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs)
|
rs1558038218
|
|
|
NM_006147.4(IRF6):c.1315C>T (p.Leu439=)
|
rs1286939391
|
|
|
NM_006147.4(IRF6):c.133del (p.Arg45fs)
|
rs1571986293
|
|
|
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln)
|
rs121434229
|
|
|
NM_006147.4(IRF6):c.1368del (p.Ser457fs)
|
rs1553247577
|
|
|
NM_006147.4(IRF6):c.1386del (p.Ala463fs)
|
|
|
|
NM_006147.4(IRF6):c.1398C>T (p.Pro466=)
|
|
|
|
NM_006147.4(IRF6):c.1400A>G (p.Gln467Arg)
|
rs1195873569
|
|
|
NM_006147.4(IRF6):c.145C>T (p.Gln49Ter)
|
rs397515434
|
|
|
NM_006147.4(IRF6):c.169T>C (p.Phe57Leu)
|
rs2077939791
|
|
|
NM_006147.4(IRF6):c.174+2dup
|
rs1558042839
|
|
|
NM_006147.4(IRF6):c.174G>A (p.Lys58=)
|
rs2077939771
|
|
|
NM_006147.4(IRF6):c.175G>T (p.Ala59Ser)
|
|
|
|
NM_006147.4(IRF6):c.176C>T (p.Ala59Val)
|
rs1571983440
|
|
|
NM_006147.4(IRF6):c.179G>A (p.Trp60Ter)
|
rs2077902428
|
|
|
NM_006147.4(IRF6):c.180G>A (p.Trp60Ter)
|
rs2077902411
|
|
|
NM_006147.4(IRF6):c.181G>C (p.Ala61Pro)
|
|
|
|
NM_006147.4(IRF6):c.199_213dup (p.Tyr67_Val71dup)
|
rs2077902226
|
|
|
NM_006147.4(IRF6):c.226C>T (p.Pro76Ser)
|
rs886039388
|
|
|
NM_006147.4(IRF6):c.232A>G (p.Lys78Glu)
|
rs1553248271
|
|
|
NM_006147.4(IRF6):c.235T>C (p.Trp79Arg)
|
|
|
|
NM_006147.4(IRF6):c.236G>A (p.Trp79Ter)
|
|
|
|
NM_006147.4(IRF6):c.242C>A (p.Ala81Asp)
|
rs1553248270
|
|
|
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)
|
rs121434226
|
|
|
NM_006147.4(IRF6):c.251G>A (p.Arg84His)
|
rs121434227
|
|
|
NM_006147.4(IRF6):c.259C>T (p.Leu87Phe)
|
|
|
|
NM_006147.4(IRF6):c.25C>T (p.Arg9Trp)
|
rs1553248641
|
|
|
NM_006147.4(IRF6):c.260T>C (p.Leu87Pro)
|
rs1553248267
|
|
|
NM_006147.4(IRF6):c.263A>G (p.Asn88Ser)
|
rs2102542868
|
|
|
NM_006147.4(IRF6):c.264T>A (p.Asn88Lys)
|
rs1553248265
|
|
|
NM_006147.4(IRF6):c.269G>C (p.Ser90Thr)
|
rs2102542857
|
|
|
NM_006147.4(IRF6):c.274G>A (p.Glu92Lys)
|
|
|
|
NM_006147.4(IRF6):c.274G>T (p.Glu92Ter)
|
rs121434224
|
|
|
NM_006147.4(IRF6):c.277T>C (p.Phe93Leu)
|
rs2077901853
|
|
|
NM_006147.4(IRF6):c.281A>G (p.Asn94Ser)
|
|
|
|
NM_006147.4(IRF6):c.290A>G (p.Tyr97Cys)
|
|
|
|
NM_006147.4(IRF6):c.292G>C (p.Asp98His)
|
rs1571983348
|
|
|
NM_006147.4(IRF6):c.294T>C (p.Asp98=)
|
|
|
|
NM_006147.4(IRF6):c.2T>A (p.Met1Lys)
|
|
|
|
NM_006147.4(IRF6):c.301A>G (p.Lys101Glu)
|
|
|
|
NM_006147.4(IRF6):c.321_322del (p.Val108fs)
|
rs2102542809
|
|
|
NM_006147.4(IRF6):c.327G>C (p.Lys109Asn)
|
rs2102542804
|
|
|
NM_006147.4(IRF6):c.329T>C (p.Ile110Thr)
|
|
|
|
NM_006147.4(IRF6):c.35C>A (p.Pro12His)
|
rs2077940711
|
|
|
NM_006147.4(IRF6):c.379+3G>T
|
|
|
|
NM_006147.4(IRF6):c.379G>A (p.Gly127Arg)
|
|
|
|
NM_006147.4(IRF6):c.390G>A (p.Gly130=)
|
rs34907424
|
|
|
NM_006147.4(IRF6):c.390G>T (p.Gly130=)
|
rs34907424
|
|
|
NM_006147.4(IRF6):c.41_42delinsGT (p.Leu14Arg)
|
rs1558042905
|
|
|
NM_006147.4(IRF6):c.430G>T (p.Glu144Ter)
|
|
|
|
NM_006147.4(IRF6):c.439del (p.Glu147fs)
|
rs2102541666
|
|
|
NM_006147.4(IRF6):c.454C>T (p.Gln152Ter)
|
rs1057520738
|
|
|
NM_006147.4(IRF6):c.458C>T (p.Ser153Leu)
|
|
|
|
NM_006147.4(IRF6):c.478C>T (p.Gln160Ter)
|
rs1322638469
|
|
|
NM_006147.4(IRF6):c.47C>T (p.Ala16Val)
|
|
|
|
NM_006147.4(IRF6):c.492del (p.Phe165fs)
|
|
|
|
NM_006147.4(IRF6):c.508+15T>G
|
|
|
|
NM_006147.4(IRF6):c.509-1G>A
|
|
|
|
NM_006147.4(IRF6):c.522G>A (p.Ala174=)
|
|
|
|
NM_006147.4(IRF6):c.52G>A (p.Val18Met)
|
rs2077940645
|
|
|
NM_006147.4(IRF6):c.558C>A (p.Cys186Ter)
|
rs2077874511
|
|
|
NM_006147.4(IRF6):c.561C>A (p.Ser187Arg)
|
|
|
|
NM_006147.4(IRF6):c.565G>A (p.Glu189Lys)
|
rs1558039763
|
|
|
NM_006147.4(IRF6):c.56_62del (p.Asp19fs)
|
|
|
|
NM_006147.4(IRF6):c.575G>A (p.Trp192Ter)
|
rs1399955256
|
|
|
NM_006147.4(IRF6):c.622C>T (p.Gln208Ter)
|
rs2077873846
|
|
|
NM_006147.4(IRF6):c.647_650dup (p.Trp217fs)
|
rs2102538567
|
|
|
NM_006147.4(IRF6):c.649T>C (p.Trp217Arg)
|
|
|
|
NM_006147.4(IRF6):c.651G>C (p.Trp217Cys)
|
|
|
|
NM_006147.4(IRF6):c.665C>T (p.Pro222Leu)
|
rs1571980623
|
|
|
NM_006147.4(IRF6):c.668-19G>A
|
|
|
|
NM_006147.4(IRF6):c.668-23_668-20del
|
|
|
|
NM_006147.4(IRF6):c.668-5T>G
|
rs1553247787
|
|
|
NM_006147.4(IRF6):c.668-8C>G
|
rs2077865321
|
|
|
NM_006147.4(IRF6):c.683T>C (p.Ile228Thr)
|
rs2102537206
|
|
|
NM_006147.4(IRF6):c.726C>G (p.Thr242=)
|
rs115610019
|
|
|
NM_006147.4(IRF6):c.745T>C (p.Cys249Arg)
|
rs2102537121
|
|
|
NM_006147.4(IRF6):c.748C>T (p.Arg250Ter)
|
rs2077864704
|
|
|
NM_006147.4(IRF6):c.749G>A (p.Arg250Gln)
|
rs1553247774
|
|
|
NM_006147.4(IRF6):c.754T>G (p.Phe252Val)
|
rs2077864661
|
|
|
NM_006147.4(IRF6):c.760G>A (p.Gly254Arg)
|
|
|
|
NM_006147.4(IRF6):c.777G>A (p.Met259Ile)
|
|
|
|
NM_006147.4(IRF6):c.805G>A (p.Val269Ile)
|
|
|
|
NM_006147.4(IRF6):c.819G>C (p.Gln273His)
|
rs2077864346
|
|
|
NM_006147.4(IRF6):c.819_820delinsCA (p.Gln273_Val274delinsHisIle)
|
|
|
|
NM_006147.4(IRF6):c.82T>G (p.Trp28Gly)
|
rs1553248637
|
|
|
NM_006147.4(IRF6):c.866T>C (p.Leu289Pro)
|
rs2102536986
|
|
|
NM_006147.4(IRF6):c.889G>A (p.Val297Ile)
|
rs779827384
|
|
|
NM_006147.4(IRF6):c.902del (p.Gly301fs)
|
rs2102536939
|
|
|
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro)
|
rs1064793154
|
|
|
NM_006147.4(IRF6):c.928G>C (p.Ala310Pro)
|
|
|
|
NM_006147.4(IRF6):c.932T>C (p.Ile311Thr)
|
rs2077863646
|
|
|
NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr)
|
rs1571979607
|
|
|
NM_006147.4(IRF6):c.961G>A (p.Val321Met)
|
rs2102536882
|
|
|
NM_006147.4(IRF6):c.964T>A (p.Tyr322Asn)
|
rs1553247754
|
|
|
NM_006147.4(IRF6):c.989C>A (p.Ser330Ter)
|
rs2077863259
|
|
|
NM_006270.5(RRAS):c.115G>T (p.Gly39Cys)
|
rs1349125359
|
|
|
NM_006270.5(RRAS):c.124A>G (p.Lys42Glu)
|
|
|
|
NM_006270.5(RRAS):c.12_13delinsAA (p.Ala5Thr)
|
|
|
|
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu)
|
rs2081014653
|
|
|
NM_006270.5(RRAS):c.153+10C>A
|
|
|
|
NM_006270.5(RRAS):c.153+17C>A
|
rs376005750
|
|
|
NM_006270.5(RRAS):c.153+18G>A
|
|
|
|
NM_006270.5(RRAS):c.154-10A>T
|
|
|
|
NM_006270.5(RRAS):c.154-6C>T
|
|
|
|
NM_006270.5(RRAS):c.162C>T (p.Phe54=)
|
|
|
|
NM_006270.5(RRAS):c.182C>A (p.Thr61Asn)
|
|
|
|
NM_006270.5(RRAS):c.198C>T (p.Tyr66=)
|
|
|
|
NM_006270.5(RRAS):c.1A>C (p.Met1Leu)
|
|
|
|
NM_006270.5(RRAS):c.1A>G (p.Met1Val)
|
|
|
|
NM_006270.5(RRAS):c.1A>T (p.Met1Leu)
|
|
|
|
NM_006270.5(RRAS):c.209G>A (p.Cys70Tyr)
|
|
|
|
NM_006270.5(RRAS):c.227C>T (p.Pro76Leu)
|
rs756447228
|
|
|
NM_006270.5(RRAS):c.231C>A (p.Ala77=)
|
rs557964716
|
|
|
NM_006270.5(RRAS):c.241+17T>C
|
|
|
|
NM_006270.5(RRAS):c.241+20A>G
|
|
|
|
NM_006270.5(RRAS):c.241+5G>A
|
rs2081000124
|
|
|
NM_006270.5(RRAS):c.241+6G>A
|
rs925991568
|
|
|
NM_006270.5(RRAS):c.241+6G>C
|
rs925991568
|
|
|
NM_006270.5(RRAS):c.242-12_242-11del
|
|
|
|
NM_006270.5(RRAS):c.242-17del
|
|
|
|
NM_006270.5(RRAS):c.242-4G>A
|
|
|
|
NM_006270.5(RRAS):c.242-8C>G
|
|
|
|
NM_006270.5(RRAS):c.252C>T (p.Thr84=)
|
|
|
|
NM_006270.5(RRAS):c.253G>A (p.Ala85Thr)
|
|
|
|
NM_006270.5(RRAS):c.254C>T (p.Ala85Val)
|
|
|
|
NM_006270.5(RRAS):c.262del (p.Glu88fs)
|
|
|
|
NM_006270.5(RRAS):c.270C>T (p.Phe90=)
|
|
|
|
NM_006270.5(RRAS):c.274G>A (p.Ala92Thr)
|
|
|
|
NM_006270.5(RRAS):c.286C>T (p.Gln96Ter)
|
|
|
|
NM_006270.5(RRAS):c.288G>A (p.Gln96=)
|
|
|
|
NM_006270.5(RRAS):c.289T>C (p.Tyr97His)
|
|
|
|
NM_006270.5(RRAS):c.28G>A (p.Gly10Arg)
|
|
|
|
NM_006270.5(RRAS):c.292A>G (p.Met98Val)
|
|
|
|
NM_006270.5(RRAS):c.295C>A (p.Arg99Ser)
|
|
|
|
NM_006270.5(RRAS):c.295C>T (p.Arg99Cys)
|
|
|
|
NM_006270.5(RRAS):c.29G>C (p.Gly10Ala)
|
rs2081015676
|
|
|
NM_006270.5(RRAS):c.2T>A (p.Met1Lys)
|
rs928367564
|
|
|
NM_006270.5(RRAS):c.2T>G (p.Met1Arg)
|
|
|
|
NM_006270.5(RRAS):c.306C>T (p.His102=)
|
|
|
|
NM_006270.5(RRAS):c.30G>C (p.Gly10=)
|
rs901769495
|
|
|
NM_006270.5(RRAS):c.319G>A (p.Val107Met)
|
|
|
|
NM_006270.5(RRAS):c.337C>T (p.Arg113Trp)
|
|
|
|
NM_006270.5(RRAS):c.344+19G>C
|
|
|
|
NM_006270.5(RRAS):c.345-14G>A
|
|
|
|
NM_006270.5(RRAS):c.345-15C>T
|
|
|
|
NM_006270.5(RRAS):c.345-19_345-18del
|
rs2122419483
|
|
|
NM_006270.5(RRAS):c.345-5C>T
|
|
|
|
NM_006270.5(RRAS):c.353A>G (p.Glu118Gly)
|
|
|
|
NM_006270.5(RRAS):c.354G>T (p.Glu118Asp)
|
|
|
|
NM_006270.5(RRAS):c.356T>G (p.Val119Gly)
|
rs2122419368
|
|
|
NM_006270.5(RRAS):c.360C>T (p.Gly120=)
|
|
|
|
NM_006270.5(RRAS):c.367T>A (p.Phe123Ile)
|
|
|
|
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg)
|
rs369508242
|
|
|
NM_006270.5(RRAS):c.382C>T (p.Arg128Trp)
|
rs1379523599
|
|
|
NM_006270.5(RRAS):c.393C>T (p.Asp131=)
|
|
|
|
NM_006270.5(RRAS):c.395G>A (p.Arg132His)
|
|
|
|
NM_006270.5(RRAS):c.403T>C (p.Phe135Leu)
|
|
|
|
NM_006270.5(RRAS):c.408C>G (p.Pro136=)
|
rs114187560
|
|
|
NM_006270.5(RRAS):c.412G>T (p.Val138Leu)
|
rs2122419131
|
|
|
NM_006270.5(RRAS):c.420C>T (p.Val140=)
|
|
|
|
NM_006270.5(RRAS):c.42C>T (p.Pro14=)
|
rs1354856207
|
|
|
NM_006270.5(RRAS):c.436C>A (p.Leu146Met)
|
|
|
|
NM_006270.5(RRAS):c.438G>T (p.Leu146=)
|
rs1599813671
|
|
|
NM_006270.5(RRAS):c.43C>A (p.Arg15=)
|
rs544651800
|
|
|
NM_006270.5(RRAS):c.43C>G (p.Arg15Gly)
|
|
|
|
NM_006270.5(RRAS):c.449G>C (p.Arg150Pro)
|
rs1017555483
|
|
|
NM_006270.5(RRAS):c.44G>A (p.Arg15Gln)
|
|
|
|
NM_006270.5(RRAS):c.44G>C (p.Arg15Pro)
|
|
|
|
NM_006270.5(RRAS):c.453+16_453+17del
|
|
|
|
NM_006270.5(RRAS):c.453+17T>C
|
|
|
|
NM_006270.5(RRAS):c.453+18T>C
|
rs2122418915
|
|
|
NM_006270.5(RRAS):c.453+7G>A
|
rs2122418958
|
|
|
NM_006270.5(RRAS):c.454-10dup
|
|
|
|
NM_006270.5(RRAS):c.454-11C>G
|
|
|
|
NM_006270.5(RRAS):c.454-11_454-10delinsTG
|
|
|
|
NM_006270.5(RRAS):c.454-12C>T
|
|
|
|
NM_006270.5(RRAS):c.454-13C>T
|
|
|
|
NM_006270.5(RRAS):c.454-20C>T
|
|
|
|
NM_006270.5(RRAS):c.454-4C>T
|
|
|
|
NM_006270.5(RRAS):c.454-6C>T
|
rs1568436933
|
|
|
NM_006270.5(RRAS):c.454-7C>T
|
rs2122417189
|
|
|
NM_006270.5(RRAS):c.454-9T>A
|
rs1490597941
|
|
|
NM_006270.5(RRAS):c.454G>A (p.Val152Ile)
|
|
|
|
NM_006270.5(RRAS):c.454G>C (p.Val152Leu)
|
|
|
|
NM_006270.5(RRAS):c.465A>C (p.Ser155=)
|
|
|
|
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs)
|
rs760978291
|
|
|
NM_006270.5(RRAS):c.473C>T (p.Ser158Phe)
|
|
|
|
NM_006270.5(RRAS):c.475G>C (p.Ala159Pro)
|
|
|
|
NM_006270.5(RRAS):c.480C>T (p.Phe160=)
|
|
|
|
NM_006270.5(RRAS):c.484G>A (p.Ala162Thr)
|
|
|
|
NM_006270.5(RRAS):c.492C>T (p.His164=)
|
rs2122416934
|
|
|
NM_006270.5(RRAS):c.493C>G (p.His165Asp)
|
|
|
|
NM_006270.5(RRAS):c.498G>A (p.Val166=)
|
|
|
|
NM_006270.5(RRAS):c.50G>T (p.Gly17Val)
|
|
|
|
NM_006270.5(RRAS):c.516G>A (p.Ser172=)
|
rs199924228
|
|
|
NM_006270.5(RRAS):c.516G>T (p.Ser172=)
|
|
|
|
NM_006270.5(RRAS):c.51G>T (p.Gly17=)
|
|
|
|
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys)
|
rs775719606
|
|
|
NM_006270.5(RRAS):c.533A>C (p.Asn178Thr)
|
|
|
|
NM_006270.5(RRAS):c.53G>C (p.Gly18Ala)
|
|
|
|
NM_006270.5(RRAS):c.541G>A (p.Glu181Lys)
|
|
|
|
NM_006270.5(RRAS):c.541G>C (p.Glu181Gln)
|
rs1428526675
|
|
|
NM_006270.5(RRAS):c.54A>T (p.Gly18=)
|
rs571103858
|
|
|
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys)
|
rs2122416729
|
|
|
NM_006270.5(RRAS):c.560T>C (p.Val187Ala)
|
rs1599813084
|
|
|
NM_006270.5(RRAS):c.562C>G (p.Arg188Gly)
|
|
|
|
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln)
|
rs374621936
|
|
|
NM_006270.5(RRAS):c.567T>C (p.Ala189=)
|
|
|
|
NM_006270.5(RRAS):c.571C>G (p.Arg191Gly)
|
|
|
|
NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)
|
|
|
|
NM_006270.5(RRAS):c.572+10G>A
|
|
|
|
NM_006270.5(RRAS):c.572+13C>A
|
|
|
|
NM_006270.5(RRAS):c.572+3G>A
|
|
|
|
NM_006270.5(RRAS):c.572+5G>A
|
|
|
|
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln)
|
rs759803129
|
|
|
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu)
|
rs759803129
|
|
|
NM_006270.5(RRAS):c.573-15G>A
|
|
|
|
NM_006270.5(RRAS):c.573-15G>C
|
|
|
|
NM_006270.5(RRAS):c.573-16del
|
|
|
|
NM_006270.5(RRAS):c.576A>G (p.Lys192=)
|
|
|
|
NM_006270.5(RRAS):c.595C>A (p.Pro199Thr)
|
|
|
|
NM_006270.5(RRAS):c.599C>T (p.Pro200Leu)
|
|
|
|
NM_006270.5(RRAS):c.609C>T (p.Pro203=)
|
|
|
|
NM_006270.5(RRAS):c.610A>G (p.Ser204Gly)
|
|
|
|
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg)
|
rs1568436746
|
|
|
NM_006270.5(RRAS):c.630C>T (p.Gly210=)
|
|
|
|
NM_006270.5(RRAS):c.642C>T (p.Pro214=)
|
|
|
|
NM_006270.5(RRAS):c.643T>C (p.Cys215Arg)
|
|
|
|
NM_006270.5(RRAS):c.64G>A (p.Gly22Arg)
|
|
|
|
NM_006270.5(RRAS):c.66G>A (p.Gly22=)
|
rs1249345635
|
|
|
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn)
|
rs2081015208
|
|
|
NM_006270.5(RRAS):c.70C>T (p.Pro24Ser)
|
rs2122429906
|
|
|
NM_006270.5(RRAS):c.74dup (p.Pro26fs)
|
rs755237250
|
|
|
NM_006270.5(RRAS):c.75G>C (p.Pro25=)
|
rs2122429854
|
|
|
NM_006270.5(RRAS):c.77C>T (p.Pro26Leu)
|
|
|
|
NM_006270.5(RRAS):c.84G>C (p.Glu28Asp)
|
|
|
|
NM_006270.5(RRAS):c.90_91del (p.His30fs)
|
|
|
|
NM_006270.5(RRAS):c.92A>G (p.Lys31Arg)
|
|
|
|
NM_006270.5(RRAS):c.98T>C (p.Val33Ala)
|
rs2122429748
|
|
|
NM_006270.5(RRAS):c.99G>A (p.Val33=)
|
|
|
|
NM_006912.6(RIT1):c.107-12C>T
|
|
|
|
NM_006912.6(RIT1):c.107-13_107-10del
|
|
|
|
NM_006912.6(RIT1):c.107-6T>G
|
|
|
|
NM_006912.6(RIT1):c.107-9C>A
|
|
|
|
NM_006912.6(RIT1):c.108C>T (p.Ala36=)
|
|
|
|
NM_006912.6(RIT1):c.109A>G (p.Met37Val)
|
|
|
|
NM_006912.6(RIT1):c.10G>C (p.Gly4Arg)
|
rs2102591257
|
|
|
NM_006912.6(RIT1):c.112A>G (p.Thr38Ala)
|
rs1557962699
|
|
|
NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)
|
|
|
|
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser)
|
rs2102590960
|
|
|
NM_006912.6(RIT1):c.116T>A (p.Met39Lys)
|
rs2102590945
|
|
|
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu)
|
rs2102591253
|
|
|
NM_006912.6(RIT1):c.120G>A (p.Gln40=)
|
|
|
|
NM_006912.6(RIT1):c.125T>C (p.Ile42Thr)
|
|
|
|
NM_006912.6(RIT1):c.128G>C (p.Ser43Thr)
|
|
|
|
NM_006912.6(RIT1):c.133C>G (p.Arg45Gly)
|
|
|
|
NM_006912.6(RIT1):c.134G>A (p.Arg45Gln)
|
|
|
|
NM_006912.6(RIT1):c.134G>T (p.Arg45Leu)
|
rs1673569021
|
|
|
NM_006912.6(RIT1):c.139C>A (p.Pro47Thr)
|
|
|
|
NM_006912.6(RIT1):c.142G>A (p.Glu48Lys)
|
|
|
|
NM_006912.6(RIT1):c.145G>C (p.Asp49His)
|
rs2102590904
|
|
|
NM_006912.6(RIT1):c.146A>T (p.Asp49Val)
|
|
|
|
NM_006912.6(RIT1):c.14C>T (p.Thr5Ile)
|
|
|
|
NM_006912.6(RIT1):c.151G>T (p.Asp51Tyr)
|
rs869025190
|
|
|
NM_006912.6(RIT1):c.153T>A (p.Asp51Glu)
|
|
|
|
NM_006912.6(RIT1):c.153T>G (p.Asp51Glu)
|
rs1571999275
|
|
|
NM_006912.6(RIT1):c.156C>A (p.Pro52=)
|
|
|
|
NM_006912.6(RIT1):c.159C>T (p.Thr53=)
|
|
|
|
NM_006912.6(RIT1):c.162T>A (p.Ile54=)
|
|
|
|
NM_006912.6(RIT1):c.163+10A>G
|
|
|
|
NM_006912.6(RIT1):c.163+12C>T
|
|
|
|
NM_006912.6(RIT1):c.163+16A>C
|
|
|
|
NM_006912.6(RIT1):c.163+16_163+18dup
|
|
|
|
NM_006912.6(RIT1):c.163+17C>G
|
|
|
|
NM_006912.6(RIT1):c.163+17C>T
|
|
|
|
NM_006912.6(RIT1):c.163+5G>T
|
rs1673568021
|
|
|
NM_006912.6(RIT1):c.164-10C>T
|
|
|
|
NM_006912.6(RIT1):c.164-18C>G
|
|
|
|
NM_006912.6(RIT1):c.164-21_164-16del
|
|
|
|
NM_006912.6(RIT1):c.164-27_164-17dup
|
|
|
|
NM_006912.6(RIT1):c.164-5T>A
|
|
|
|
NM_006912.6(RIT1):c.164-5T>C
|
|
|
|
NM_006912.6(RIT1):c.164-6C>T
|
|
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
|
NM_006912.6(RIT1):c.17G>C (p.Arg6Pro)
|
|
|
|
NM_006912.6(RIT1):c.18C>T (p.Arg6=)
|
|
|
|
NM_006912.6(RIT1):c.201G>A (p.Glu67=)
|
rs1254003235
|
|
|
NM_006912.6(RIT1):c.206C>A (p.Ala69Asp)
|
|
|
|
NM_006912.6(RIT1):c.211C>G (p.Leu71Val)
|
|
|
|
NM_006912.6(RIT1):c.212_213del (p.Leu71fs)
|
|
|
|
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)
|
rs869025191
|
|
|
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)
|
rs869025191
|
|
|
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser)
|
rs869025191
|
|
|
NM_006912.6(RIT1):c.229_234dup (p.Ala77_Gly78dup)
|
rs1673399028
|
|
|
NM_006912.6(RIT1):c.22G>T (p.Val8Phe)
|
|
|
|
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)
|
rs1673399238
|
|
|
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)
|
rs1557960268
|
|
|
NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)
|
|
|
|
NM_006912.6(RIT1):c.237+11C>A
|
|
|
|
NM_006912.6(RIT1):c.237+12del
|
rs763868802
|
|
|
NM_006912.6(RIT1):c.237+15_237+50del
|
|
|
|
NM_006912.6(RIT1):c.237+18G>A
|
|
|
|
NM_006912.6(RIT1):c.237+19T>A
|
|
|
|
NM_006912.6(RIT1):c.237+9T>C
|
|
|
|
NM_006912.6(RIT1):c.238-12G>C
|
|
|
|
NM_006912.6(RIT1):c.238-16C>T
|
rs763494925
|
|
|
NM_006912.6(RIT1):c.238-2dup
|
rs1298539810
|
|
|
NM_006912.6(RIT1):c.238-9T>A
|
|
|
|
NM_006912.6(RIT1):c.23T>C (p.Val8Ala)
|
|
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
|
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)
|
rs869025194
|
|
|
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)
|
rs869025194
|
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
|
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)
|
rs730881014
|
|
|
NM_006912.6(RIT1):c.246T>C (p.Phe82=)
|
|
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
|
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
|
rs869025195
|
|
|
NM_006912.6(RIT1):c.253A>G (p.Met85Val)
|
|
|
|
NM_006912.6(RIT1):c.256C>T (p.Arg86Trp)
|
|
|
|
NM_006912.6(RIT1):c.258G>A (p.Arg86=)
|
|
|
|
NM_006912.6(RIT1):c.259G>C (p.Asp87His)
|
rs886041414
|
|
|
NM_006912.6(RIT1):c.260A>C (p.Asp87Ala)
|
|
|
|
NM_006912.6(RIT1):c.261C>T (p.Asp87=)
|
|
|
|
NM_006912.6(RIT1):c.264G>A (p.Gln88=)
|
|
|
|
NM_006912.6(RIT1):c.265T>C (p.Tyr89His)
|
rs869025197
|
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
|
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)
|
rs483352822
|
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
|
NM_006912.6(RIT1):c.270G>T (p.Met90Ile)
|
rs483352822
|
|
|
NM_006912.6(RIT1):c.273G>A (p.Arg91=)
|
|
|
|
NM_006912.6(RIT1):c.274G>T (p.Ala92Ser)
|
|
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
|
NM_006912.6(RIT1):c.285G>A (p.Gly95=)
|
|
|
|
NM_006912.6(RIT1):c.29G>C (p.Ser10Thr)
|
|
|
|
NM_006912.6(RIT1):c.304A>G (p.Ile102Val)
|
rs886041962
|
|
|
NM_006912.6(RIT1):c.308C>T (p.Thr103Met)
|
|
|
|
NM_006912.6(RIT1):c.309G>A (p.Thr103=)
|
rs370396152
|
|
|
NM_006912.6(RIT1):c.309G>C (p.Thr103=)
|
rs370396152
|
|
|
NM_006912.6(RIT1):c.310G>A (p.Asp104Asn)
|
|
|
|
NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)
|
|
|
|
NM_006912.6(RIT1):c.316C>A (p.Arg106=)
|
|
|
|
NM_006912.6(RIT1):c.321T>C (p.Ser107=)
|
rs2102584781
|
|
|
NM_006912.6(RIT1):c.326A>T (p.His109Leu)
|
rs1407666045
|
|
|
NM_006912.6(RIT1):c.335G>A (p.Arg112His)
|
|
|
|
NM_006912.6(RIT1):c.338A>C (p.Glu113Ala)
|
|
|
|
NM_006912.6(RIT1):c.338A>T (p.Glu113Val)
|
|
|
|
NM_006912.6(RIT1):c.33C>T (p.Cys11=)
|
|
|
|
NM_006912.6(RIT1):c.340T>C (p.Phe114Leu)
|
|
|
|
NM_006912.6(RIT1):c.351T>C (p.Leu117=)
|
|
|
|
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)
|
|
|
|
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)
|
rs777520196
|
|
|
NM_006912.6(RIT1):c.366A>G (p.Arg122=)
|
|
|
|
NM_006912.6(RIT1):c.374A>G (p.Asp125Gly)
|
|
|
|
NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)
|
|
|
|
NM_006912.6(RIT1):c.379A>G (p.Thr127Ala)
|
|
|
|
NM_006912.6(RIT1):c.381A>C (p.Thr127=)
|
rs1206873288
|
|
|
NM_006912.6(RIT1):c.381A>G (p.Thr127=)
|
|
|
|
NM_006912.6(RIT1):c.384T>C (p.Pro128=)
|
|
|
|
NM_006912.6(RIT1):c.387G>A (p.Val129=)
|
|
|
|
NM_006912.6(RIT1):c.401A>G (p.Asn134Ser)
|
|
|
|
NM_006912.6(RIT1):c.401A>T (p.Asn134Ile)
|
|
|
|
NM_006912.6(RIT1):c.408A>G (p.Ser136=)
|
|
|
|
NM_006912.6(RIT1):c.413T>C (p.Leu138Pro)
|
|
|
|
NM_006912.6(RIT1):c.413T>G (p.Leu138Arg)
|
|
|
|
NM_006912.6(RIT1):c.417A>T (p.Lys139Asn)
|
|
|
|
NM_006912.6(RIT1):c.421C>T (p.Leu141=)
|
|
|
|
NM_006912.6(RIT1):c.429+15G>A
|
|
|
|
NM_006912.6(RIT1):c.429+20T>C
|
rs2102584651
|
|
|
NM_006912.6(RIT1):c.429+9A>G
|
|
|
|
NM_006912.6(RIT1):c.430-11dup
|
|
|
|
NM_006912.6(RIT1):c.430-16C>T
|
|
|
|
NM_006912.6(RIT1):c.430-18C>A
|
|
|
|
NM_006912.6(RIT1):c.430-18C>T
|
|
|
|
NM_006912.6(RIT1):c.430-5T>C
|
rs1571991209
|
|
|
NM_006912.6(RIT1):c.433A>G (p.Thr145Ala)
|
|
|
|
NM_006912.6(RIT1):c.441A>G (p.Glu147=)
|
|
|
|
NM_006912.6(RIT1):c.446G>C (p.Gly149Ala)
|
|
|
|
NM_006912.6(RIT1):c.45C>T (p.Pro15=)
|
|
|
|
NM_006912.6(RIT1):c.465A>G (p.Glu155=)
|
|
|
|
NM_006912.6(RIT1):c.470G>A (p.Ser157Asn)
|
|
|
|
NM_006912.6(RIT1):c.486G>A (p.Glu162=)
|
|
|
|
NM_006912.6(RIT1):c.488C>T (p.Thr163Ile)
|
rs2102581107
|
|
|
NM_006912.6(RIT1):c.489A>G (p.Thr163=)
|
|
|
|
NM_006912.6(RIT1):c.48T>C (p.Ala16=)
|
|
|
|
NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)
|
|
|
|
NM_006912.6(RIT1):c.492T>C (p.Ser164=)
|
rs2102581097
|
|
|
NM_006912.6(RIT1):c.498A>G (p.Ala166=)
|
|
|
|
NM_006912.6(RIT1):c.49G>T (p.Gly17Trp)
|
|
|
|
NM_006912.6(RIT1):c.4G>A (p.Asp2Asn)
|
rs924364497
|
|
|
NM_006912.6(RIT1):c.503G>A (p.Arg168His)
|
|
|
|
NM_006912.6(RIT1):c.505T>A (p.Tyr169Asn)
|
|
|
|
NM_006912.6(RIT1):c.507C>T (p.Tyr169=)
|
|
|
|
NM_006912.6(RIT1):c.509A>G (p.Tyr170Cys)
|
|
|
|
NM_006912.6(RIT1):c.50G>A (p.Gly17Glu)
|
|
|
|
NM_006912.6(RIT1):c.519T>C (p.Asp173=)
|
|
|
|
NM_006912.6(RIT1):c.531C>A (p.Ala177=)
|
|
|
|
NM_006912.6(RIT1):c.532C>G (p.Leu178Val)
|
rs730881013
|
|
|
NM_006912.6(RIT1):c.535G>A (p.Val179Ile)
|
|
|
|
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)
|
|
|
|
NM_006912.6(RIT1):c.53T>G (p.Leu18Arg)
|
|
|
|
NM_006912.6(RIT1):c.546A>G (p.Ile182Met)
|
rs1673291260
|
|
|
NM_006912.6(RIT1):c.547C>T (p.Arg183Cys)
|
|
|
|
NM_006912.6(RIT1):c.550A>G (p.Arg184Gly)
|
|
|
|
NM_006912.6(RIT1):c.551G>T (p.Arg184Met)
|
rs1401658925
|
|
|
NM_006912.6(RIT1):c.552G>A (p.Arg184=)
|
rs1673290776
|
|
|
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)
|
|
|
|
NM_006912.6(RIT1):c.561G>C (p.Lys187Asn)
|
|
|
|
NM_006912.6(RIT1):c.565G>A (p.Ala189Thr)
|
|
|
|
NM_006912.6(RIT1):c.566C>T (p.Ala189Val)
|
|
|
|
NM_006912.6(RIT1):c.570A>G (p.Val190=)
|
|
|
|
NM_006912.6(RIT1):c.572T>A (p.Leu191Gln)
|
|
|
|
NM_006912.6(RIT1):c.577A>T (p.Met193Leu)
|
|
|
|
NM_006912.6(RIT1):c.578T>C (p.Met193Thr)
|
|
|
|
NM_006912.6(RIT1):c.578T>G (p.Met193Arg)
|
|
|
|
NM_006912.6(RIT1):c.583A>G (p.Lys195Glu)
|
|
|
|
NM_006912.6(RIT1):c.587A>C (p.Lys196Thr)
|
|
|
|
NM_006912.6(RIT1):c.587A>T (p.Lys196Ile)
|
|
|
|
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)
|
|
|
|
NM_006912.6(RIT1):c.588A>G (p.Lys196=)
|
|
|
|
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro)
|
rs1673289658
|
|
|
NM_006912.6(RIT1):c.598A>C (p.Lys200Gln)
|
|
|
|
NM_006912.6(RIT1):c.59G>A (p.Arg20Gln)
|
|
|
|
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)
|
|
|
|
NM_006912.6(RIT1):c.604_605del (p.Ser202fs)
|
|
|
|
NM_006912.6(RIT1):c.607G>A (p.Val203Ile)
|
|
|
|
NM_006912.6(RIT1):c.609A>G (p.Val203=)
|
|
|
|
NM_006912.6(RIT1):c.617G>A (p.Arg206Lys)
|
|
|
|
NM_006912.6(RIT1):c.617G>C (p.Arg206Thr)
|
|
|
|
NM_006912.6(RIT1):c.618G>C (p.Arg206Ser)
|
|
|
|
NM_006912.6(RIT1):c.634del (p.Arg212fs)
|
|
|
|
NM_006912.6(RIT1):c.638A>G (p.Lys213Arg)
|
|
|
|
NM_006912.6(RIT1):c.638del (p.Lys213fs)
|
|
|
|
NM_006912.6(RIT1):c.639G>A (p.Lys213=)
|
rs1673288442
|
|
|
NM_006912.6(RIT1):c.644A>C (p.Lys215Thr)
|
|
|
|
NM_006912.6(RIT1):c.644_647del (p.Lys215fs)
|
rs766063111
|
|
|
NM_006912.6(RIT1):c.645del (p.Asp216fs)
|
rs1673288090
|
|
|
NM_006912.6(RIT1):c.649del (p.Ser217fs)
|
rs1673287696
|
|
|
NM_006912.6(RIT1):c.650C>G (p.Ser217Ter)
|
|
|
|
NM_006912.6(RIT1):c.651A>G (p.Ser217=)
|
|
|
|
NM_006912.6(RIT1):c.657T>C (p.Thr219=)
|
|
|
|
NM_006912.6(RIT1):c.659G>A (p.Ter220=)
|
|
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
|
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)
|
rs1557962794
|
|
|
NM_006912.6(RIT1):c.72A>G (p.Leu24=)
|
rs770237120
|
|
|
NM_006912.6(RIT1):c.7T>G (p.Ser3Ala)
|
rs2102591265
|
|
|
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg)
|
rs1571999498
|
|
|
NM_006912.6(RIT1):c.93T>C (p.Gly31=)
|
|
|
|
NM_006939.4(SOS2):c.1001G>A (p.Arg334His)
|
|
|
|
NM_006939.4(SOS2):c.1009C>T (p.Leu337Phe)
|
rs1204583343
|
|
|
NM_006939.4(SOS2):c.1015C>T (p.Arg339Cys)
|
|
|
|
NM_006939.4(SOS2):c.1016G>A (p.Arg339His)
|
|
|
|
NM_006939.4(SOS2):c.1017T>A (p.Arg339=)
|
|
|
|
NM_006939.4(SOS2):c.1017T>C (p.Arg339=)
|
|
|
|
NM_006939.4(SOS2):c.1022T>C (p.Met341Thr)
|
|
|
|
NM_006939.4(SOS2):c.1024C>T (p.Leu342=)
|
rs1033098930
|
|
|
NM_006939.4(SOS2):c.1029G>A (p.Val343=)
|
|
|
|
NM_006939.4(SOS2):c.1032A>G (p.Pro344=)
|
|
|
|
NM_006939.4(SOS2):c.1036T>C (p.Tyr346His)
|
|
|
|
NM_006939.4(SOS2):c.1042T>G (p.Cys348Gly)
|
rs1885462935
|
|
|
NM_006939.4(SOS2):c.1042dup (p.Cys348fs)
|
|
|
|
NM_006939.4(SOS2):c.1043G>C (p.Cys348Ser)
|
|
|
|
NM_006939.4(SOS2):c.1049A>G (p.His350Arg)
|
|
|
|
NM_006939.4(SOS2):c.1060T>G (p.Leu354Val)
|
|
|
|
NM_006939.4(SOS2):c.1065A>G (p.Leu355=)
|
|
|
|
NM_006939.4(SOS2):c.1068+11A>G
|
|
|
|
NM_006939.4(SOS2):c.1068+15C>A
|
|
|
|
NM_006939.4(SOS2):c.1068+17_1068+18del
|
|
|
|
NM_006939.4(SOS2):c.1069-14_1069-13del
|
|
|
|
NM_006939.4(SOS2):c.1069-16_1069-13del
|
|
|
|
NM_006939.4(SOS2):c.1069-4T>C
|
|
|
|
NM_006939.4(SOS2):c.1069-5del
|
|
|
|
NM_006939.4(SOS2):c.1069-6dup
|
rs756206186
|
|
|
NM_006939.4(SOS2):c.106C>G (p.Pro36Ala)
|
|
|
|
NM_006939.4(SOS2):c.1080A>T (p.Ala360=)
|
|
|
|
NM_006939.4(SOS2):c.1081T>A (p.Cys361Ser)
|
|
|
|
NM_006939.4(SOS2):c.1084A>G (p.Ser362Gly)
|
|
|
|
NM_006939.4(SOS2):c.1085G>A (p.Ser362Asn)
|
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NM_006939.4(SOS2):c.1107A>G (p.Glu369=)
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NM_006939.4(SOS2):c.110C>T (p.Thr37Ile)
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NM_006939.4(SOS2):c.1119A>G (p.Gln373=)
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NM_006939.4(SOS2):c.1125T>C (p.Ile375=)
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rs1885009611
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NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)
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rs869320687
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NM_006939.4(SOS2):c.1127C>T (p.Thr376Ile)
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NM_006939.4(SOS2):c.1132C>T (p.Leu378Phe)
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NM_006939.4(SOS2):c.1137G>C (p.Met379Ile)
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NM_006939.4(SOS2):c.1150A>G (p.Ser384Gly)
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NM_006939.4(SOS2):c.1153A>G (p.Met385Val)
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NM_006939.4(SOS2):c.1158C>T (p.Asp386=)
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rs942106224
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NM_006939.4(SOS2):c.1159C>A (p.Arg387=)
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NM_006939.4(SOS2):c.1159C>T (p.Arg387Ter)
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NM_006939.4(SOS2):c.115T>A (p.Ser39Thr)
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rs2139796314
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NM_006939.4(SOS2):c.1170G>A (p.Lys390=)
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NM_006939.4(SOS2):c.1173G>A (p.Gln391=)
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NM_006939.4(SOS2):c.1173G>T (p.Gln391His)
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NM_006939.4(SOS2):c.1175A>G (p.Tyr392Cys)
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rs1085307558
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NM_006939.4(SOS2):c.1176T>C (p.Tyr392=)
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rs1555370242
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NM_006939.4(SOS2):c.1181C>G (p.Pro394Arg)
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NM_006939.4(SOS2):c.1181C>T (p.Pro394Leu)
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rs144332746
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NM_006939.4(SOS2):c.1183A>T (p.Arg395Ter)
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NM_006939.4(SOS2):c.1185A>C (p.Arg395Ser)
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NM_006939.4(SOS2):c.1187G>A (p.Arg396His)
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NM_006939.4(SOS2):c.1189C>G (p.Arg397Gly)
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rs777771444
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NM_006939.4(SOS2):c.1195G>C (p.Gly399Arg)
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NM_006939.4(SOS2):c.1196+5T>C
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NM_006939.4(SOS2):c.1196+7C>T
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NM_006939.4(SOS2):c.1197-11_1197-8del
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NM_006939.4(SOS2):c.1197-20A>G
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NM_006939.4(SOS2):c.1197-5del
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NM_006939.4(SOS2):c.1197-5dup
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NM_006939.4(SOS2):c.1197-8T>G
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rs2139630303
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NM_006939.4(SOS2):c.1205T>C (p.Val402Ala)
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NM_006939.4(SOS2):c.1210C>G (p.Pro404Ala)
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NM_006939.4(SOS2):c.1217A>G (p.Tyr406Cys)
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NM_006939.4(SOS2):c.1221T>C (p.Ser407=)
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NM_006939.4(SOS2):c.1227A>G (p.Gln409=)
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NM_006939.4(SOS2):c.122A>G (p.Asn41Ser)
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NM_006939.4(SOS2):c.1230A>G (p.Leu410=)
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NM_006939.4(SOS2):c.1230AAG[1] (p.Arg411del)
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NM_006939.4(SOS2):c.1235G>T (p.Ser412Ile)
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NM_006939.4(SOS2):c.1242C>A (p.His414Gln)
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NM_006939.4(SOS2):c.1242C>G (p.His414Gln)
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NM_006939.4(SOS2):c.1242C>T (p.His414=)
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NM_006939.4(SOS2):c.1243C>T (p.Leu415=)
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NM_006939.4(SOS2):c.1244T>G (p.Leu415Arg)
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NM_006939.4(SOS2):c.1245_1248del (p.Ala416fs)
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rs2139630042
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NM_006939.4(SOS2):c.1249A>T (p.Ile417Phe)
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NM_006939.4(SOS2):c.1251C>G (p.Ile417Met)
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NM_006939.4(SOS2):c.1256A>G (p.Lys419Arg)
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NM_006939.4(SOS2):c.1259T>C (p.Met420Thr)
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NM_006939.4(SOS2):c.1263T>C (p.Asn421=)
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rs369267864
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NM_006939.4(SOS2):c.1265A>G (p.Glu422Gly)
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NM_006939.4(SOS2):c.1266A>C (p.Glu422Asp)
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rs755550719
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NM_006939.4(SOS2):c.1285G>A (p.Gly429Arg)
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NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
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NM_006939.4(SOS2):c.129G>A (p.Glu43=)
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NM_006939.4(SOS2):c.1300G>C (p.Asp434His)
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rs2139629861
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NM_006939.4(SOS2):c.1303A>G (p.Ile435Val)
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NM_006939.4(SOS2):c.1311G>C (p.Gln437His)
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NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys)
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rs1884941722
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NM_006939.4(SOS2):c.1323A>G (p.Glu441=)
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NM_006939.4(SOS2):c.1325T>G (p.Phe442Cys)
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NM_006939.4(SOS2):c.1326C>A (p.Phe442Leu)
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NM_006939.4(SOS2):c.1327A>C (p.Ile443Leu)
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NM_006939.4(SOS2):c.1331T>C (p.Met444Thr)
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rs1884941577
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NM_006939.4(SOS2):c.1337G>T (p.Gly446Val)
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NM_006939.4(SOS2):c.1338A>C (p.Gly446=)
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NM_006939.4(SOS2):c.1338A>T (p.Gly446=)
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NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
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NM_006939.4(SOS2):c.133C>T (p.Leu45Phe)
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NM_006939.4(SOS2):c.133_136del (p.Leu45fs)
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rs764257310
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NM_006939.4(SOS2):c.1341A>G (p.Pro447=)
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rs761540894
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NM_006939.4(SOS2):c.1345A>G (p.Thr449Ala)
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NM_006939.4(SOS2):c.1350A>G (p.Arg450=)
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NM_006939.4(SOS2):c.1353C>T (p.Ile451=)
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NM_006939.4(SOS2):c.1362A>G (p.Lys454=)
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NM_006939.4(SOS2):c.1366G>A (p.Glu456Lys)
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NM_006939.4(SOS2):c.1369C>T (p.Arg457Trp)
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NM_006939.4(SOS2):c.1370G>A (p.Arg457Gln)
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NM_006939.4(SOS2):c.1371G>T (p.Arg457=)
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NM_006939.4(SOS2):c.1375A>G (p.Ile459Val)
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rs886268693
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NM_006939.4(SOS2):c.137A>C (p.Tyr46Ser)
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rs1162838729
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NM_006939.4(SOS2):c.137A>G (p.Tyr46Cys)
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NM_006939.4(SOS2):c.1393T>G (p.Leu465Val)
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NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)
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NM_006939.4(SOS2):c.1403G>T (p.Ser468Ile)
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NM_006939.4(SOS2):c.1411C>T (p.Pro471Ser)
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rs1353990634
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NM_006939.4(SOS2):c.1412C>G (p.Pro471Arg)
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NM_006939.4(SOS2):c.141T>C (p.Tyr47=)
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NM_006939.4(SOS2):c.1422C>G (p.Gly474=)
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NM_006939.4(SOS2):c.1422C>T (p.Gly474=)
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NM_006939.4(SOS2):c.1427C>T (p.Thr476Ile)
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rs2139629330
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NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp)
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rs1555370121
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NM_006939.4(SOS2):c.1445G>A (p.Ser482Asn)
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NM_006939.4(SOS2):c.1445G>T (p.Ser482Ile)
|
rs1195086721
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NM_006939.4(SOS2):c.1455A>G (p.Glu485=)
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NM_006939.4(SOS2):c.1458_1473del (p.Arg487fs)
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NM_006939.4(SOS2):c.1463T>G (p.Leu488Ter)
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NM_006939.4(SOS2):c.1464A>G (p.Leu488=)
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NM_006939.4(SOS2):c.1472A>G (p.Lys491Arg)
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NM_006939.4(SOS2):c.1474T>C (p.Phe492Leu)
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NM_006939.4(SOS2):c.1475T>C (p.Phe492Ser)
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NM_006939.4(SOS2):c.1480A>T (p.Met494Leu)
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rs1884937684
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NM_006939.4(SOS2):c.1488A>G (p.Lys496=)
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NM_006939.4(SOS2):c.1491A>T (p.Ile497=)
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rs2139629111
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NM_006939.4(SOS2):c.1492C>G (p.Gln498Glu)
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NM_006939.4(SOS2):c.1499G>C (p.Cys500Ser)
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NM_006939.4(SOS2):c.1508A>T (p.Glu503Val)
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NM_006939.4(SOS2):c.1511A>G (p.Asp504Gly)
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rs1884937142
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NM_006939.4(SOS2):c.1514C>G (p.Thr505Ser)
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NM_006939.4(SOS2):c.1515T>C (p.Thr505=)
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rs1345455743
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NM_006939.4(SOS2):c.1516T>C (p.Cys506Arg)
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NM_006939.4(SOS2):c.1517G>C (p.Cys506Ser)
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NM_006939.4(SOS2):c.1523A>G (p.His508Arg)
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NM_006939.4(SOS2):c.1532C>G (p.Ala511Gly)
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NM_006939.4(SOS2):c.1533A>G (p.Ala511=)
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NM_006939.4(SOS2):c.1537G>C (p.Glu513Gln)
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NM_006939.4(SOS2):c.1540T>C (p.Leu514=)
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NM_006939.4(SOS2):c.1544T>C (p.Val515Ala)
|
rs2139628968
|
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NM_006939.4(SOS2):c.1550A>C (p.Lys517Thr)
|
rs367970301
|
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NM_006939.4(SOS2):c.1560C>G (p.Asn520Lys)
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NM_006939.4(SOS2):c.1564A>G (p.Ile522Val)
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NM_006939.4(SOS2):c.1564ATA[1] (p.Ile523del)
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NM_006939.4(SOS2):c.1567A>G (p.Ile523Val)
|
rs1884934797
|
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NM_006939.4(SOS2):c.1585G>C (p.Ala529Pro)
|
rs2139628740
|
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NM_006939.4(SOS2):c.1586C>T (p.Ala529Val)
|
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NM_006939.4(SOS2):c.1592A>G (p.Glu531Gly)
|
rs778331065
|
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NM_006939.4(SOS2):c.1593A>G (p.Glu531=)
|
rs1414010933
|
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NM_006939.4(SOS2):c.1598dup (p.Asn533fs)
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NM_006939.4(SOS2):c.1599C>A (p.Asn533Lys)
|
rs1484591662
|
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NM_006939.4(SOS2):c.15G>A (p.Pro5=)
|
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NM_006939.4(SOS2):c.1606A>G (p.Met536Val)
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NM_006939.4(SOS2):c.1609G>A (p.Ala537Thr)
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NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser)
|
rs748632850
|
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NM_006939.4(SOS2):c.1610C>T (p.Ala537Val)
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NM_006939.4(SOS2):c.1612G>A (p.Ala538Thr)
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NM_006939.4(SOS2):c.1614C>A (p.Ala538=)
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NM_006939.4(SOS2):c.1614C>T (p.Ala538=)
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NM_006939.4(SOS2):c.1617T>A (p.Leu539=)
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NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
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NM_006939.4(SOS2):c.1642C>A (p.Leu548Ile)
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NM_006939.4(SOS2):c.1642C>T (p.Leu548=)
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NM_006939.4(SOS2):c.1648C>A (p.Arg550=)
|
rs1344304906
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NM_006939.4(SOS2):c.1649G>A (p.Arg550Gln)
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NM_006939.4(SOS2):c.1661C>T (p.Ser554Leu)
|
rs763829729
|
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NM_006939.4(SOS2):c.1662A>G (p.Ser554=)
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NM_006939.4(SOS2):c.166C>T (p.Leu56Phe)
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NM_006939.4(SOS2):c.1682A>C (p.Asn561Thr)
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NM_006939.4(SOS2):c.1682A>T (p.Asn561Ile)
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NM_006939.4(SOS2):c.1698A>T (p.Arg566Ser)
|
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NM_006939.4(SOS2):c.169A>G (p.Asn57Asp)
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NM_006939.4(SOS2):c.1705A>G (p.Ser569Gly)
|
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NM_006939.4(SOS2):c.1708C>T (p.Pro570Ser)
|
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NM_006939.4(SOS2):c.1711G>A (p.Glu571Lys)
|
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|
NM_006939.4(SOS2):c.1721G>A (p.Arg574His)
|
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NM_006939.4(SOS2):c.1726G>A (p.Val576Ile)
|
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|
NM_006939.4(SOS2):c.1727T>G (p.Val576Gly)
|
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|
NM_006939.4(SOS2):c.172A>G (p.Lys58Glu)
|
rs2139796115
|
|
|
NM_006939.4(SOS2):c.1734del (p.Asp579fs)
|
rs2139628200
|
|
|
NM_006939.4(SOS2):c.1740_1741del (p.Glu581fs)
|
|
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|
NM_006939.4(SOS2):c.1766A>G (p.Asn589Ser)
|
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|
|
NM_006939.4(SOS2):c.1767C>T (p.Asn589=)
|
rs1427742827
|
|
|
NM_006939.4(SOS2):c.1775G>C (p.Ser592Thr)
|
|
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|
NM_006939.4(SOS2):c.1776T>C (p.Ser592=)
|
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|
NM_006939.4(SOS2):c.177A>G (p.Leu59=)
|
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|
NM_006939.4(SOS2):c.1781G>T (p.Ser594Ile)
|
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|
|
NM_006939.4(SOS2):c.1786A>G (p.Ile596Val)
|
|
|
|
NM_006939.4(SOS2):c.1788C>G (p.Ile596Met)
|
rs2139627990
|
|
|
NM_006939.4(SOS2):c.1810G>T (p.Val604Leu)
|
rs769210427
|
|
|
NM_006939.4(SOS2):c.1811T>C (p.Val604Ala)
|
|
|
|
NM_006939.4(SOS2):c.1815G>T (p.Val605=)
|
rs966907268
|
|
|
NM_006939.4(SOS2):c.181A>G (p.Met61Val)
|
rs774761716
|
|
|
NM_006939.4(SOS2):c.1824T>G (p.Ile608Met)
|
|
|
|
NM_006939.4(SOS2):c.1832T>C (p.Leu611Ser)
|
|
|
|
NM_006939.4(SOS2):c.1833A>G (p.Leu611=)
|
|
|
|
NM_006939.4(SOS2):c.1838A>G (p.Tyr613Cys)
|
|
|
|
NM_006939.4(SOS2):c.1852+11C>T
|
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|
|
NM_006939.4(SOS2):c.1852+14A>G
|
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|
|
NM_006939.4(SOS2):c.1852+15T>C
|
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|
NM_006939.4(SOS2):c.1852+19A>G
|
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|
NM_006939.4(SOS2):c.1852+2T>C
|
|
|
|
NM_006939.4(SOS2):c.1852+3A>G
|
rs758436817
|
|
|
NM_006939.4(SOS2):c.1852+4T>C
|
|
|
|
NM_006939.4(SOS2):c.1852+6T>C
|
|
|
|
NM_006939.4(SOS2):c.185C>T (p.Ala62Val)
|
rs1886594687
|
|
|
NM_006939.4(SOS2):c.1861T>A (p.Phe621Ile)
|
|
|
|
NM_006939.4(SOS2):c.1867C>T (p.Arg623Cys)
|
|
|
|
NM_006939.4(SOS2):c.1881C>T (p.Thr627=)
|
|
|
|
NM_006939.4(SOS2):c.1883C>T (p.Thr628Ile)
|
|
|
|
NM_006939.4(SOS2):c.1884A>C (p.Thr628=)
|
rs781172817
|
|
|
NM_006939.4(SOS2):c.1884A>G (p.Thr628=)
|
|
|
|
NM_006939.4(SOS2):c.1888C>T (p.Arg630Cys)
|
|
|
|
NM_006939.4(SOS2):c.1891T>C (p.Ser631Pro)
|
|
|
|
NM_006939.4(SOS2):c.1900A>G (p.Lys634Glu)
|
rs1884893175
|
|
|
NM_006939.4(SOS2):c.1915C>A (p.Leu639Met)
|
|
|
|
NM_006939.4(SOS2):c.1932A>G (p.Glu644=)
|
|
|
|
NM_006939.4(SOS2):c.1933C>T (p.Arg645Trp)
|
|
|
|
NM_006939.4(SOS2):c.1934+11T>G
|
rs375487320
|
|
|
NM_006939.4(SOS2):c.1934+12A>G
|
rs1054073809
|
|
|
NM_006939.4(SOS2):c.1934+19del
|
|
|
|
NM_006939.4(SOS2):c.1934+1G>A
|
|
|
|
NM_006939.4(SOS2):c.1934+6A>C
|
|
|
|
NM_006939.4(SOS2):c.1934G>T (p.Arg645Leu)
|
|
|
|
NM_006939.4(SOS2):c.1935-19C>A
|
|
|
|
NM_006939.4(SOS2):c.1935-20C>G
|
rs376985307
|
|
|
NM_006939.4(SOS2):c.1935-3T>A
|
|
|
|
NM_006939.4(SOS2):c.1935-6T>C
|
|
|
|
NM_006939.4(SOS2):c.1939G>A (p.Glu647Lys)
|
|
|
|
NM_006939.4(SOS2):c.1952C>G (p.Pro651Arg)
|
|
|
|
NM_006939.4(SOS2):c.1957C>T (p.Pro653Ser)
|
|
|
|
NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)
|
|
|
|
NM_006939.4(SOS2):c.1965C>T (p.Asp655=)
|
|
|
|
NM_006939.4(SOS2):c.1966G>T (p.Ala656Ser)
|
|
|
|
NM_006939.4(SOS2):c.1981A>G (p.Ile661Val)
|
rs1460978115
|
|
|
NM_006939.4(SOS2):c.1982T>C (p.Ile661Thr)
|
|
|
|
NM_006939.4(SOS2):c.1983A>T (p.Ile661=)
|
|
|
|
NM_006939.4(SOS2):c.1988A>G (p.Lys663Arg)
|
|
|
|
NM_006939.4(SOS2):c.1990G>C (p.Gly664Arg)
|
|
|
|
NM_006939.4(SOS2):c.1992C>G (p.Gly664=)
|
|
|
|
NM_006939.4(SOS2):c.1998G>A (p.Gln666=)
|
|
|
|
NM_006939.4(SOS2):c.19C>A (p.Pro7Thr)
|
|
|
|
NM_006939.4(SOS2):c.19C>T (p.Pro7Ser)
|
|
|
|
NM_006939.4(SOS2):c.1_20dup (p.Tyr8fs)
|
|
|
|
NM_006939.4(SOS2):c.2000C>T (p.Pro667Leu)
|
|
|
|
NM_006939.4(SOS2):c.2001A>G (p.Pro667=)
|
|
|
|
NM_006939.4(SOS2):c.2005A>G (p.Ser669Gly)
|
|
|
|
NM_006939.4(SOS2):c.2007T>A (p.Ser669Arg)
|
|
|
|
NM_006939.4(SOS2):c.2007T>C (p.Ser669=)
|
rs577622341
|
|
|
NM_006939.4(SOS2):c.2018A>G (p.Lys673Arg)
|
|
|
|
NM_006939.4(SOS2):c.2021G>A (p.Arg674Lys)
|
rs371205081
|
|
|
NM_006939.4(SOS2):c.2022A>G (p.Arg674=)
|
|
|
|
NM_006939.4(SOS2):c.2026C>T (p.Arg676Cys)
|
|
|
|
NM_006939.4(SOS2):c.2027G>T (p.Arg676Leu)
|
|
|
|
NM_006939.4(SOS2):c.202C>G (p.Gln68Glu)
|
|
|
|
NM_006939.4(SOS2):c.2030A>G (p.Lys677Arg)
|
|
|
|
NM_006939.4(SOS2):c.2034A>G (p.Glu678=)
|
|
|
|
NM_006939.4(SOS2):c.2037T>C (p.Tyr679=)
|
|
|
|
NM_006939.4(SOS2):c.2039T>C (p.Val680Ala)
|
|
|
|
NM_006939.4(SOS2):c.2045C>T (p.Pro682Leu)
|
|
|
|
NM_006939.4(SOS2):c.2046A>G (p.Pro682=)
|
rs2139618438
|
|
|
NM_006939.4(SOS2):c.2047G>A (p.Val683Ile)
|
rs1884843220
|
|
|
NM_006939.4(SOS2):c.204A>G (p.Gln68=)
|
|
|
|
NM_006939.4(SOS2):c.2057+12A>C
|
|
|
|
NM_006939.4(SOS2):c.2057+12A>G
|
|
|
|
NM_006939.4(SOS2):c.2057+19_2057+20insA
|
|
|
|
NM_006939.4(SOS2):c.2057+20T>G
|
|
|
|
NM_006939.4(SOS2):c.2057+20_2057+22del
|
|
|
|
NM_006939.4(SOS2):c.2057+20del
|
rs111970905
|
|
|
NM_006939.4(SOS2):c.2058-10A>G
|
rs1303671107
|
|
|
NM_006939.4(SOS2):c.2058-13T>C
|
|
|
|
NM_006939.4(SOS2):c.2058-1G>A
|
|
|
|
NM_006939.4(SOS2):c.2058-29_2058-10dup
|
|
|
|
NM_006939.4(SOS2):c.2058-4T>A
|
|
|
|
NM_006939.4(SOS2):c.205G>A (p.Asp69Asn)
|
|
|
|
NM_006939.4(SOS2):c.2066A>G (p.Asn689Ser)
|
|
|
|
NM_006939.4(SOS2):c.2076G>A (p.Arg692=)
|
|
|
|
NM_006939.4(SOS2):c.2089C>T (p.His697Tyr)
|
|
|
|
NM_006939.4(SOS2):c.208G>C (p.Val70Leu)
|
|
|
|
NM_006939.4(SOS2):c.2094T>C (p.His698=)
|
|
|
|
NM_006939.4(SOS2):c.20C>G (p.Pro7Arg)
|
|
|
|
NM_006939.4(SOS2):c.2104T>C (p.Phe702Leu)
|
rs2139604459
|
|
|
NM_006939.4(SOS2):c.2106T>C (p.Phe702=)
|
|
|
|
NM_006939.4(SOS2):c.2109A>G (p.Glu703=)
|
|
|
|
NM_006939.4(SOS2):c.2113G>T (p.Asp705Tyr)
|
rs1057518079
|
|
|
NM_006939.4(SOS2):c.2118G>A (p.Leu706=)
|
rs2139604401
|
|
|
NM_006939.4(SOS2):c.211G>C (p.Glu71Gln)
|
|
|
|
NM_006939.4(SOS2):c.2128G>C (p.Glu710Gln)
|
rs768829374
|
|
|
NM_006939.4(SOS2):c.2129A>G (p.Glu710Gly)
|
|
|
|
NM_006939.4(SOS2):c.213+10A>G
|
rs1785709173
|
|
|
NM_006939.4(SOS2):c.213+13T>C
|
|
|
|
NM_006939.4(SOS2):c.213+16T>C
|
|
|
|
NM_006939.4(SOS2):c.213+18A>C
|
rs143888968
|
|
|
NM_006939.4(SOS2):c.213+20T>G
|
|
|
|
NM_006939.4(SOS2):c.213+7A>G
|
|
|
|
NM_006939.4(SOS2):c.2136A>G (p.Leu712=)
|
|
|
|
NM_006939.4(SOS2):c.2137G>C (p.Glu713Gln)
|
rs534384816
|
|
|
NM_006939.4(SOS2):c.214-20G>A
|
|
|
|
NM_006939.4(SOS2):c.214-20G>T
|
|
|
|
NM_006939.4(SOS2):c.214-7T>G
|
|
|
|
NM_006939.4(SOS2):c.214-9A>G
|
|
|
|
NM_006939.4(SOS2):c.214-9A>T
|
|
|
|
NM_006939.4(SOS2):c.2146A>G (p.Ile716Val)
|
|
|
|
NM_006939.4(SOS2):c.2148T>G (p.Ile716Met)
|
|
|
|
NM_006939.4(SOS2):c.214G>A (p.Glu72Lys)
|
|
|
|
NM_006939.4(SOS2):c.2155G>A (p.Val719Ile)
|
|
|
|
NM_006939.4(SOS2):c.2156T>G (p.Val719Gly)
|
|
|
|
NM_006939.4(SOS2):c.2161+15G>T
|
|
|
|
NM_006939.4(SOS2):c.2161+16G>T
|
|
|
|
NM_006939.4(SOS2):c.2161+16del
|
rs780462582
|
|
|
NM_006939.4(SOS2):c.2161+19del
|
rs1555369697
|
|
|
NM_006939.4(SOS2):c.2161+5A>G
|
|
|
|
NM_006939.4(SOS2):c.2161+7_2161+11del
|
|
|
|
NM_006939.4(SOS2):c.2162-10C>A
|
|
|
|
NM_006939.4(SOS2):c.2162-10C>G
|
|
|
|
NM_006939.4(SOS2):c.2162-12T>C
|
|
|
|
NM_006939.4(SOS2):c.2162-15G>A
|
|
|
|
NM_006939.4(SOS2):c.2162-18T>C
|
|
|
|
NM_006939.4(SOS2):c.2162-6T>A
|
|
|
|
NM_006939.4(SOS2):c.2164A>C (p.Lys722Gln)
|
|
|
|
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn)
|
rs769787486
|
|
|
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val)
|
rs1566827698
|
|
|
NM_006939.4(SOS2):c.2170A>G (p.Met724Val)
|
|
|
|
NM_006939.4(SOS2):c.217C>A (p.Arg73=)
|
|
|
|
NM_006939.4(SOS2):c.2180G>T (p.Trp727Leu)
|
|
|
|
NM_006939.4(SOS2):c.2182G>A (p.Val728Ile)
|
rs2139595594
|
|
|
NM_006939.4(SOS2):c.2190A>C (p.Ser730=)
|
|
|
|
NM_006939.4(SOS2):c.2193T>G (p.Ile731Met)
|
|
|
|
NM_006939.4(SOS2):c.2203A>G (p.Ile735Val)
|
|
|
|
NM_006939.4(SOS2):c.220G>A (p.Val74Ile)
|
rs1886470934
|
|
|
NM_006939.4(SOS2):c.2214G>A (p.Lys738=)
|
|
|
|
NM_006939.4(SOS2):c.2217G>A (p.Lys739=)
|
rs186110427
|
|
|
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn)
|
rs186110427
|
|
|
NM_006939.4(SOS2):c.2221G>A (p.Ala741Thr)
|
rs1594973893
|
|
|
NM_006939.4(SOS2):c.2231_2232inv (p.Asn744Ser)
|
|
|
|
NM_006939.4(SOS2):c.2232_2233delinsTA (p.Gly745Arg)
|
|
|
|
NM_006939.4(SOS2):c.2232_2233delinsTC (p.Gly745Arg)
|
|
|
|
NM_006939.4(SOS2):c.2236G>A (p.Val746Ile)
|
|
|
|
NM_006939.4(SOS2):c.223C>G (p.Gln75Glu)
|
|
|
|
NM_006939.4(SOS2):c.2240G>A (p.Ser747Asn)
|
|
|
|
NM_006939.4(SOS2):c.2241C>T (p.Ser747=)
|
|
|
|
NM_006939.4(SOS2):c.2243A>G (p.His748Arg)
|
|
|
|
NM_006939.4(SOS2):c.2249T>C (p.Ile750Thr)
|
|
|
|
NM_006939.4(SOS2):c.2249T>G (p.Ile750Ser)
|
|
|
|
NM_006939.4(SOS2):c.224A>G (p.Gln75Arg)
|
rs2139783861
|
|
|
NM_006939.4(SOS2):c.2262T>C (p.Ser754=)
|
|
|
|
NM_006939.4(SOS2):c.2268T>G (p.Pro756=)
|
rs1555369534
|
|
|
NM_006939.4(SOS2):c.2272C>G (p.Pro758Ala)
|
|
|
|
NM_006939.4(SOS2):c.2276T>C (p.Ile759Thr)
|
|
|
|
NM_006939.4(SOS2):c.2284C>A (p.His762Asn)
|
|
|
|
NM_006939.4(SOS2):c.2290A>C (p.Ser764Arg)
|
|
|
|
NM_006939.4(SOS2):c.2303A>C (p.Gln768Pro)
|
|
|
|
NM_006939.4(SOS2):c.2304G>T (p.Gln768His)
|
rs778281839
|
|
|
NM_006939.4(SOS2):c.2307T>A (p.Phe769Leu)
|
|
|
|
NM_006939.4(SOS2):c.230C>G (p.Thr77Ser)
|
rs565261873
|
|
|
NM_006939.4(SOS2):c.2313A>G (p.Thr771=)
|
|
|
|
NM_006939.4(SOS2):c.2316T>G (p.Phe772Leu)
|
rs2139594970
|
|
|
NM_006939.4(SOS2):c.2318A>C (p.Asp773Ala)
|
rs1884612400
|
|
|
NM_006939.4(SOS2):c.2320C>G (p.Leu774Val)
|
|
|
|
NM_006939.4(SOS2):c.2322C>G (p.Leu774=)
|
rs781235783
|
|
|
NM_006939.4(SOS2):c.2328A>T (p.Thr776=)
|
rs116162949
|
|
|
NM_006939.4(SOS2):c.2329C>T (p.Leu777Phe)
|
rs151074097
|
|
|
NM_006939.4(SOS2):c.2337A>G (p.Pro779=)
|
|
|
|
NM_006939.4(SOS2):c.2345T>C (p.Ile782Thr)
|
|
|
|
NM_006939.4(SOS2):c.2347G>C (p.Ala783Pro)
|
|
|
|
NM_006939.4(SOS2):c.2348C>T (p.Ala783Val)
|
|
|
|
NM_006939.4(SOS2):c.2351G>A (p.Arg784His)
|
|
|
|
NM_006939.4(SOS2):c.2354A>G (p.Gln785Arg)
|
|
|
|
NM_006939.4(SOS2):c.2356C>T (p.Leu786=)
|
rs1884611451
|
|
|
NM_006939.4(SOS2):c.2359A>C (p.Thr787Pro)
|
|
|
|
NM_006939.4(SOS2):c.2361A>G (p.Thr787=)
|
|
|
|
NM_006939.4(SOS2):c.2362C>G (p.Leu788Val)
|
rs771681478
|
|
|
NM_006939.4(SOS2):c.2363T>A (p.Leu788His)
|
|
|
|
NM_006939.4(SOS2):c.2369A>G (p.Glu790Gly)
|
|
|
|
NM_006939.4(SOS2):c.237T>A (p.Pro79=)
|
|
|
|
NM_006939.4(SOS2):c.2384+10_2384+13del
|
|
|
|
NM_006939.4(SOS2):c.2384+16_2384+21del
|
rs750693332
|
|
|
NM_006939.4(SOS2):c.2384+18A>G
|
|
|
|
NM_006939.4(SOS2):c.2384+20G>T
|
|
|
|
NM_006939.4(SOS2):c.2385-19C>T
|
|
|
|
NM_006939.4(SOS2):c.2385-4A>G
|
|
|
|
NM_006939.4(SOS2):c.2394A>G (p.Gln798=)
|
|
|
|
NM_006939.4(SOS2):c.2397G>A (p.Pro799=)
|
rs770022419
|
|
|
NM_006939.4(SOS2):c.2406T>C (p.Leu802=)
|
|
|
|
NM_006939.4(SOS2):c.2413A>G (p.Ser805Gly)
|
|
|
|
NM_006939.4(SOS2):c.2414G>A (p.Ser805Asn)
|
|
|
|
NM_006939.4(SOS2):c.2430A>T (p.Glu810Asp)
|
|
|
|
NM_006939.4(SOS2):c.2435A>G (p.Lys812Arg)
|
|
|
|
NM_006939.4(SOS2):c.2441T>G (p.Ile814Arg)
|
|
|
|
NM_006939.4(SOS2):c.2442A>C (p.Ile814=)
|
|
|
|
NM_006939.4(SOS2):c.2452A>C (p.Asn818His)
|
|
|
|
NM_006939.4(SOS2):c.2453A>G (p.Asn818Ser)
|
|
|
|
NM_006939.4(SOS2):c.2460A>G (p.Leu820=)
|
|
|
|
NM_006939.4(SOS2):c.2466G>A (p.Met822Ile)
|
|
|
|
NM_006939.4(SOS2):c.2472C>A (p.Arg824=)
|
|
|
|
NM_006939.4(SOS2):c.2485C>T (p.Leu829Phe)
|
|
|
|
NM_006939.4(SOS2):c.2490C>T (p.Thr830=)
|
|
|
|
NM_006939.4(SOS2):c.2493C>A (p.Leu831=)
|
|
|
|
NM_006939.4(SOS2):c.2493C>T (p.Leu831=)
|
|
|
|
NM_006939.4(SOS2):c.2504+15A>T
|
|
|
|
NM_006939.4(SOS2):c.2505-11G>A
|
|
|
|
NM_006939.4(SOS2):c.2505-8G>A
|
|
|
|
NM_006939.4(SOS2):c.2505-8G>T
|
|
|
|
NM_006939.4(SOS2):c.2505A>G (p.Lys835=)
|
|
|
|
NM_006939.4(SOS2):c.2509A>G (p.Ile837Val)
|
rs1469543967
|
|
|
NM_006939.4(SOS2):c.2510T>C (p.Ile837Thr)
|
|
|
|
NM_006939.4(SOS2):c.2520A>C (p.Ala840=)
|
|
|
|
NM_006939.4(SOS2):c.2522A>G (p.Glu841Gly)
|
|
|
|
NM_006939.4(SOS2):c.252A>G (p.Lys84=)
|
|
|
|
NM_006939.4(SOS2):c.2531A>C (p.Glu844Ala)
|
|
|
|
NM_006939.4(SOS2):c.2539G>T (p.Val847Leu)
|
|
|
|
NM_006939.4(SOS2):c.2551A>C (p.Ser851Arg)
|
|
|
|
NM_006939.4(SOS2):c.2554A>C (p.Arg852=)
|
|
|
|
NM_006939.4(SOS2):c.2561T>C (p.Ile854Thr)
|
|
|
|
NM_006939.4(SOS2):c.2562A>G (p.Ile854Met)
|
|
|
|
NM_006939.4(SOS2):c.2569C>G (p.Leu857Val)
|
|
|
|
NM_006939.4(SOS2):c.2571G>A (p.Leu857=)
|
|
|
|
NM_006939.4(SOS2):c.2572C>A (p.Gln858Lys)
|
|
|
|
NM_006939.4(SOS2):c.2574A>G (p.Gln858=)
|
|
|
|
NM_006939.4(SOS2):c.2585A>G (p.Asp862Gly)
|
|
|
|
NM_006939.4(SOS2):c.2586T>C (p.Asp862=)
|
rs1594969928
|
|
|
NM_006939.4(SOS2):c.263C>T (p.Ala88Val)
|
|
|
|
NM_006939.4(SOS2):c.2654A>G (p.Asp885Gly)
|
|
|
|
NM_006939.4(SOS2):c.2661C>G (p.Thr887=)
|
|
|
|
NM_006939.4(SOS2):c.2667+13C>T
|
|
|
|
NM_006939.4(SOS2):c.2667+14T>C
|
|
|
|
NM_006939.4(SOS2):c.2667+16A>G
|
|
|
|
NM_006939.4(SOS2):c.2667+20T>G
|
|
|
|
NM_006939.4(SOS2):c.2667G>T (p.Glu889Asp)
|
|
|
|
NM_006939.4(SOS2):c.2668-11_2668-9dup
|
|
|
|
NM_006939.4(SOS2):c.2668-18A>G
|
|
|
|
NM_006939.4(SOS2):c.2668-19A>G
|
|
|
|
NM_006939.4(SOS2):c.2668-19A>T
|
|
|
|
NM_006939.4(SOS2):c.2668-20C>G
|
|
|
|
NM_006939.4(SOS2):c.2668-20C>T
|
|
|
|
NM_006939.4(SOS2):c.2668-4del
|
rs2139556831
|
|
|
NM_006939.4(SOS2):c.2668G>A (p.Ala890Thr)
|
|
|
|
NM_006939.4(SOS2):c.2671C>T (p.Leu891=)
|
rs2139556792
|
|
|
NM_006939.4(SOS2):c.2672T>A (p.Leu891Gln)
|
|
|
|
NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys)
|
rs556373963
|
|
|
NM_006939.4(SOS2):c.2707G>C (p.Val903Leu)
|
|
|
|
NM_006939.4(SOS2):c.2711A>G (p.Glu904Gly)
|
|
|
|
NM_006939.4(SOS2):c.2723A>G (p.Asp908Gly)
|
|
|
|
NM_006939.4(SOS2):c.272A>C (p.Gln91Pro)
|
|
|
|
NM_006939.4(SOS2):c.2735A>G (p.Lys912Arg)
|
|
|
|
NM_006939.4(SOS2):c.2740C>T (p.Leu914=)
|
rs1363925093
|
|
|
NM_006939.4(SOS2):c.2741T>A (p.Leu914Gln)
|
|
|
|
NM_006939.4(SOS2):c.2742A>G (p.Leu914=)
|
|
|
|
NM_006939.4(SOS2):c.2754_2758del (p.Lys918fs)
|
|
|
|
NM_006939.4(SOS2):c.2756C>T (p.Ser919Leu)
|
|
|
|
NM_006939.4(SOS2):c.2762A>G (p.Asn921Ser)
|
|
|
|
NM_006939.4(SOS2):c.2766A>T (p.Pro922=)
|
|
|
|
NM_006939.4(SOS2):c.2767C>T (p.Pro923Ser)
|
|
|
|
NM_006939.4(SOS2):c.2774T>C (p.Val925Ala)
|
|
|
|
NM_006939.4(SOS2):c.2784T>A (p.Phe928Leu)
|
|
|
|
NM_006939.4(SOS2):c.2785+12A>T
|
|
|
|
NM_006939.4(SOS2):c.2785+13A>T
|
|
|
|
NM_006939.4(SOS2):c.2785+14T>C
|
|
|
|
NM_006939.4(SOS2):c.2785+16T>C
|
|
|
|
NM_006939.4(SOS2):c.2785+16T>G
|
|
|
|
NM_006939.4(SOS2):c.2785+18_2785+19delinsTT
|
|
|
|
NM_006939.4(SOS2):c.2785+9C>G
|
rs2139556419
|
|
|
NM_006939.4(SOS2):c.2786-13T>C
|
|
|
|
NM_006939.4(SOS2):c.2786-16_2786-15insG
|
|
|
|
NM_006939.4(SOS2):c.2786-18T>C
|
|
|
|
NM_006939.4(SOS2):c.2786-18_2786-17dup
|
rs201957103
|
|
|
NM_006939.4(SOS2):c.2786-18dup
|
rs201957103
|
|
|
NM_006939.4(SOS2):c.2786-1G>A
|
|
|
|
NM_006939.4(SOS2):c.2786-6del
|
rs201957103
|
|
|
NM_006939.4(SOS2):c.2790A>G (p.Ile930Met)
|
|
|
|
NM_006939.4(SOS2):c.280A>G (p.Ile94Val)
|
|
|
|
NM_006939.4(SOS2):c.2814C>T (p.Thr938=)
|
|
|
|
NM_006939.4(SOS2):c.2815G>A (p.Glu939Lys)
|
|
|
|
NM_006939.4(SOS2):c.2832T>C (p.Asp944=)
|
|
|
|
NM_006939.4(SOS2):c.2833T>A (p.Phe945Ile)
|
|
|
|
NM_006939.4(SOS2):c.2838A>T (p.Leu946Phe)
|
|
|
|
NM_006939.4(SOS2):c.2853A>G (p.Lys951=)
|
|
|
|
NM_006939.4(SOS2):c.2854G>T (p.Asp952Tyr)
|
|
|
|
NM_006939.4(SOS2):c.2857T>A (p.Leu953Ile)
|
|
|
|
NM_006939.4(SOS2):c.2864A>G (p.Asn955Ser)
|
|
|
|
NM_006939.4(SOS2):c.2880G>A (p.Arg960=)
|
|
|
|
NM_006939.4(SOS2):c.288A>G (p.Lys96=)
|
|
|
|
NM_006939.4(SOS2):c.2895T>C (p.Ile965=)
|
|
|
|
NM_006939.4(SOS2):c.2898T>G (p.Thr966=)
|
|
|
|
NM_006939.4(SOS2):c.290G>A (p.Arg97Gln)
|
rs777574895
|
|
|
NM_006939.4(SOS2):c.2910G>A (p.Gln970=)
|
|
|
|
NM_006939.4(SOS2):c.2919G>C (p.Gln973His)
|
rs1884164664
|
|
|
NM_006939.4(SOS2):c.2939G>A (p.Arg980Gln)
|
rs2139550610
|
|
|
NM_006939.4(SOS2):c.2953A>G (p.Met985Val)
|
|
|
|
NM_006939.4(SOS2):c.2954T>C (p.Met985Thr)
|
rs2139550560
|
|
|
NM_006939.4(SOS2):c.2958+12C>T
|
|
|
|
NM_006939.4(SOS2):c.2958+9T>C
|
|
|
|
NM_006939.4(SOS2):c.2959-12_2959-9del
|
rs780266222
|
|
|
NM_006939.4(SOS2):c.2959-15T>C
|
|
|
|
NM_006939.4(SOS2):c.2959-19G>T
|
|
|
|
NM_006939.4(SOS2):c.2959-20T>G
|
rs375042033
|
|
|
NM_006939.4(SOS2):c.2959-4C>A
|
|
|
|
NM_006939.4(SOS2):c.295C>T (p.Arg99Ter)
|
|
|
|
NM_006939.4(SOS2):c.2962T>A (p.Phe988Ile)
|
|
|
|
NM_006939.4(SOS2):c.2967del (p.Phe989fs)
|
|
|
|
NM_006939.4(SOS2):c.296G>A (p.Arg99Gln)
|
rs369592322
|
|
|
NM_006939.4(SOS2):c.2971A>G (p.Asn991Asp)
|
|
|
|
NM_006939.4(SOS2):c.2973C>G (p.Asn991Lys)
|
rs1883999905
|
|
|
NM_006939.4(SOS2):c.2974C>T (p.Leu992Phe)
|
|
|
|
NM_006939.4(SOS2):c.2979C>G (p.Asn993Lys)
|
rs768403750
|
|
|
NM_006939.4(SOS2):c.297A>C (p.Arg99=)
|
|
|
|
NM_006939.4(SOS2):c.2980C>G (p.Pro994Ala)
|
rs1883999639
|
|
|
NM_006939.4(SOS2):c.2981C>G (p.Pro994Arg)
|
rs1883999558
|
|
|
NM_006939.4(SOS2):c.2982C>T (p.Pro994=)
|
rs1432970491
|
|
|
NM_006939.4(SOS2):c.2983A>G (p.Met995Val)
|
rs933544183
|
|
|
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg)
|
rs780598157
|
|
|
NM_006939.4(SOS2):c.2989A>G (p.Ser997Gly)
|
|
|
|
NM_006939.4(SOS2):c.2990G>T (p.Ser997Ile)
|
|
|
|
NM_006939.4(SOS2):c.2992G>A (p.Ala998Thr)
|
|
|
|
NM_006939.4(SOS2):c.2994A>T (p.Ala998=)
|
|
|
|
NM_006939.4(SOS2):c.2996C>A (p.Ser999Tyr)
|
|
|
|
NM_006939.4(SOS2):c.2997T>C (p.Ser999=)
|
|
|
|
NM_006939.4(SOS2):c.299G>A (p.Arg100Lys)
|
|
|
|
NM_006939.4(SOS2):c.2T>C (p.Met1Thr)
|
|
|
|
NM_006939.4(SOS2):c.3002A>G (p.Lys1001Arg)
|
|
|
|
NM_006939.4(SOS2):c.3003A>G (p.Lys1001=)
|
rs546284255
|
|
|
NM_006939.4(SOS2):c.3006G>A (p.Glu1002=)
|
|
|
|
NM_006939.4(SOS2):c.3016T>C (p.Tyr1006His)
|
|
|
|
NM_006939.4(SOS2):c.3023del (p.Phe1008fs)
|
rs2139528773
|
|
|
NM_006939.4(SOS2):c.3027C>G (p.Asn1009Lys)
|
|
|
|
NM_006939.4(SOS2):c.3028A>G (p.Lys1010Glu)
|
rs181284424
|
|
|
NM_006939.4(SOS2):c.3042T>G (p.Ile1014Met)
|
rs1447097552
|
|
|
NM_006939.4(SOS2):c.3047C>G (p.Pro1016Arg)
|
|
|
|
NM_006939.4(SOS2):c.304C>T (p.Pro102Ser)
|
rs2139783538
|
|
|
NM_006939.4(SOS2):c.3055T>C (p.Cys1019Arg)
|
|
|
|
NM_006939.4(SOS2):c.3064C>A (p.Pro1022Thr)
|
rs2139528591
|
|
|
NM_006939.4(SOS2):c.3067C>T (p.Pro1023Ser)
|
rs1287471667
|
|
|
NM_006939.4(SOS2):c.3075+10T>C
|
|
|
|
NM_006939.4(SOS2):c.3075+11dup
|
|
|
|
NM_006939.4(SOS2):c.3075+13T>C
|
rs2139528519
|
|
|
NM_006939.4(SOS2):c.3075+14A>G
|
|
|
|
NM_006939.4(SOS2):c.3075+20G>A
|
|
|
|
NM_006939.4(SOS2):c.3076-10C>G
|
|
|
|
NM_006939.4(SOS2):c.3076-12T>C
|
rs2139513366
|
|
|
NM_006939.4(SOS2):c.3076-19T>C
|
|
|
|
NM_006939.4(SOS2):c.3076-5C>T
|
|
|
|
NM_006939.4(SOS2):c.3076-8T>C
|
|
|
|
NM_006939.4(SOS2):c.3077C>T (p.Pro1026Leu)
|
rs2139513281
|
|
|
NM_006939.4(SOS2):c.3080G>A (p.Arg1027Lys)
|
|
|
|
NM_006939.4(SOS2):c.3081G>A (p.Arg1027=)
|
|
|
|
NM_006939.4(SOS2):c.3089C>G (p.Thr1030Ser)
|
|
|
|
NM_006939.4(SOS2):c.3102dup (p.Ser1035fs)
|
|
|
|
NM_006939.4(SOS2):c.3107C>G (p.Pro1036Arg)
|
|
|
|
NM_006939.4(SOS2):c.3114A>G (p.Ile1038Met)
|
rs1883841371
|
|
|
NM_006939.4(SOS2):c.3116G>A (p.Arg1039Lys)
|
|
|
|
NM_006939.4(SOS2):c.3124A>C (p.Thr1042Pro)
|
|
|
|
NM_006939.4(SOS2):c.3134A>G (p.His1045Arg)
|
|
|
|
NM_006939.4(SOS2):c.3142A>T (p.Thr1048Ser)
|
|
|
|
NM_006939.4(SOS2):c.3145T>C (p.Ser1049Pro)
|
rs2139513028
|
|
|
NM_006939.4(SOS2):c.3151A>G (p.Thr1051Ala)
|
|
|
|
NM_006939.4(SOS2):c.3152C>T (p.Thr1051Ile)
|
|
|
|
NM_006939.4(SOS2):c.3153T>C (p.Thr1051=)
|
|
|
|
NM_006939.4(SOS2):c.3165C>A (p.His1055Gln)
|
|
|
|
NM_006939.4(SOS2):c.3171A>G (p.Thr1057=)
|
|
|
|
NM_006939.4(SOS2):c.3172C>T (p.Pro1058Ser)
|
rs753668226
|
|
|
NM_006939.4(SOS2):c.3173C>G (p.Pro1058Arg)
|
|
|
|
NM_006939.4(SOS2):c.3173C>T (p.Pro1058Leu)
|
|
|
|
NM_006939.4(SOS2):c.3184G>C (p.Glu1062Gln)
|
|
|
|
NM_006939.4(SOS2):c.3190T>A (p.Cys1064Ser)
|
|
|
|
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg)
|
rs1224696199
|
|
|
NM_006939.4(SOS2):c.3191G>A (p.Cys1064Tyr)
|
|
|
|
NM_006939.4(SOS2):c.3194A>C (p.Lys1065Thr)
|
rs1286858047
|
|
|
NM_006939.4(SOS2):c.3195A>C (p.Lys1065Asn)
|
rs2139512774
|
|
|
NM_006939.4(SOS2):c.3208C>T (p.Arg1070Trp)
|
|
|
|
NM_006939.4(SOS2):c.3209G>A (p.Arg1070Gln)
|
|
|
|
NM_006939.4(SOS2):c.3211A>G (p.Ile1071Val)
|
|
|
|
NM_006939.4(SOS2):c.3216T>C (p.Ala1072=)
|
|
|
|
NM_006939.4(SOS2):c.3237A>G (p.Thr1079=)
|
|
|
|
NM_006939.4(SOS2):c.3247C>T (p.Pro1083Ser)
|
|
|
|
NM_006939.4(SOS2):c.324C>A (p.Asp108Glu)
|
|
|
|
NM_006939.4(SOS2):c.3250A>C (p.Thr1084Pro)
|
|
|
|
NM_006939.4(SOS2):c.3251C>T (p.Thr1084Ile)
|
|
|
|
NM_006939.4(SOS2):c.3256C>T (p.Pro1086Ser)
|
|
|
|
NM_006939.4(SOS2):c.3257C>T (p.Pro1086Leu)
|
|
|
|
NM_006939.4(SOS2):c.3260A>G (p.Asn1087Ser)
|
|
|
|
NM_006939.4(SOS2):c.3263C>T (p.Thr1088Ile)
|
|
|
|
NM_006939.4(SOS2):c.3266del (p.Pro1089fs)
|
|
|
|
NM_006939.4(SOS2):c.3271A>T (p.Thr1091Ser)
|
rs1210330980
|
|
|
NM_006939.4(SOS2):c.3277C>G (p.Pro1093Ala)
|
|
|
|
NM_006939.4(SOS2):c.3284C>G (p.Ser1095Cys)
|
|
|
|
NM_006939.4(SOS2):c.3286G>A (p.Ala1096Thr)
|
|
|
|
NM_006939.4(SOS2):c.3295G>C (p.Asp1099His)
|
|
|
|
NM_006939.4(SOS2):c.3301A>C (p.Ser1101Arg)
|
|
|
|
NM_006939.4(SOS2):c.3302G>A (p.Ser1101Asn)
|
rs1419463844
|
|
|
NM_006939.4(SOS2):c.3304G>A (p.Val1102Ile)
|
|
|
|
NM_006939.4(SOS2):c.3308T>C (p.Phe1103Ser)
|
|
|
|
NM_006939.4(SOS2):c.330C>A (p.Ile110=)
|
|
|
|
NM_006939.4(SOS2):c.3312A>G (p.Leu1104=)
|
|
|
|
NM_006939.4(SOS2):c.3313G>A (p.Asp1105Asn)
|
|
|
|
NM_006939.4(SOS2):c.3327C>A (p.Asn1109Lys)
|
|
|
|
NM_006939.4(SOS2):c.3327C>T (p.Asn1109=)
|
|
|
|
NM_006939.4(SOS2):c.3330C>G (p.Ser1110Arg)
|
|
|
|
NM_006939.4(SOS2):c.3332C>T (p.Ser1111Phe)
|
|
|
|
NM_006939.4(SOS2):c.3337+10T>C
|
|
|
|
NM_006939.4(SOS2):c.3337+17_3337+18dup
|
|
|
|
NM_006939.4(SOS2):c.3337+4A>G
|
rs924531063
|
|
|
NM_006939.4(SOS2):c.3338-14del
|
rs1362501070
|
|
|
NM_006939.4(SOS2):c.3338-8del
|
rs2139510301
|
|
|
NM_006939.4(SOS2):c.333T>C (p.His111=)
|
|
|
|
NM_006939.4(SOS2):c.3341G>A (p.Ser1114Asn)
|
|
|
|
NM_006939.4(SOS2):c.3344A>G (p.Asn1115Ser)
|
|
|
|
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn)
|
|
|
|
NM_006939.4(SOS2):c.3348C>T (p.Ser1116=)
|
|
|
|
NM_006939.4(SOS2):c.3358C>T (p.Pro1120Ser)
|
|
|
|
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=)
|
rs147513220
|
|
|
NM_006939.4(SOS2):c.3379+11T>C
|
|
|
|
NM_006939.4(SOS2):c.3379+17T>C
|
|
|
|
NM_006939.4(SOS2):c.3379+4_3379+7del
|
rs2139510043
|
|
|
NM_006939.4(SOS2):c.3379+6T>C
|
rs2139510050
|
|
|
NM_006939.4(SOS2):c.3379+7A>G
|
|
|
|
NM_006939.4(SOS2):c.3380-10T>C
|
|
|
|
NM_006939.4(SOS2):c.3380-10del
|
rs749810829
|
|
|
NM_006939.4(SOS2):c.3383C>G (p.Ser1128Cys)
|
rs1566815476
|
|
|
NM_006939.4(SOS2):c.3384T>G (p.Ser1128=)
|
|
|
|
NM_006939.4(SOS2):c.3390T>C (p.Phe1130=)
|
|
|
|
NM_006939.4(SOS2):c.3392G>A (p.Ser1131Asn)
|
|
|
|
NM_006939.4(SOS2):c.3393T>C (p.Ser1131=)
|
|
|
|
NM_006939.4(SOS2):c.3395C>T (p.Ser1132Leu)
|
rs2139472231
|
|
|
NM_006939.4(SOS2):c.3396A>C (p.Ser1132=)
|
|
|
|
NM_006939.4(SOS2):c.339G>C (p.Ser113=)
|
|
|
|
NM_006939.4(SOS2):c.33del (p.Phe11fs)
|
|
|
|
NM_006939.4(SOS2):c.3408A>T (p.Leu1136Phe)
|
|
|
|
NM_006939.4(SOS2):c.3410A>G (p.His1137Arg)
|
|
|
|
NM_006939.4(SOS2):c.3416T>G (p.Leu1139Arg)
|
|
|
|
NM_006939.4(SOS2):c.3420T>G (p.Ser1140Arg)
|
|
|
|
NM_006939.4(SOS2):c.3430C>G (p.Leu1144Val)
|
|
|
|
NM_006939.4(SOS2):c.3440C>T (p.Pro1147Leu)
|
|
|
|
NM_006939.4(SOS2):c.3443C>G (p.Pro1148Arg)
|
rs1375287247
|
|
|
NM_006939.4(SOS2):c.3443_3454del (p.Pro1148_Pro1151del)
|
rs777487865
|
|
|
NM_006939.4(SOS2):c.3447T>G (p.Leu1149=)
|
|
|
|
NM_006939.4(SOS2):c.344A>G (p.Lys115Arg)
|
|
|
|
NM_006939.4(SOS2):c.345+11A>G
|
|
|
|
NM_006939.4(SOS2):c.345+3A>G
|
|
|
|
NM_006939.4(SOS2):c.345+5C>T
|
|
|
|
NM_006939.4(SOS2):c.345+5_345+7del
|
|
|
|
NM_006939.4(SOS2):c.345+6A>G
|
rs2139783376
|
|
|
NM_006939.4(SOS2):c.345+7A>G
|
|
|
|
NM_006939.4(SOS2):c.3452C>G (p.Pro1151Arg)
|
|
|
|
NM_006939.4(SOS2):c.3455G>A (p.Arg1152Gln)
|
|
|
|
NM_006939.4(SOS2):c.346-10_346-8del
|
|
|
|
NM_006939.4(SOS2):c.346-11T>C
|
|
|
|
NM_006939.4(SOS2):c.346-21_346-17del
|
|
|
|
NM_006939.4(SOS2):c.346-5C>T
|
|
|
|
NM_006939.4(SOS2):c.346-6T>A
|
|
|
|
NM_006939.4(SOS2):c.3463T>A (p.Phe1155Ile)
|
|
|
|
NM_006939.4(SOS2):c.3468T>A (p.Asp1156Glu)
|
|
|
|
NM_006939.4(SOS2):c.3470A>G (p.His1157Arg)
|
|
|
|
NM_006939.4(SOS2):c.347A>G (p.Glu116Gly)
|
|
|
|
NM_006939.4(SOS2):c.3481A>C (p.Asn1161His)
|
|
|
|
NM_006939.4(SOS2):c.3481A>G (p.Asn1161Asp)
|
|
|
|
NM_006939.4(SOS2):c.3486C>T (p.Ser1162=)
|
|
|
|
NM_006939.4(SOS2):c.3489+14C>G
|
|
|
|
NM_006939.4(SOS2):c.3489+15T>G
|
|
|
|
NM_006939.4(SOS2):c.3489+17T>C
|
|
|
|
NM_006939.4(SOS2):c.3489+18A>G
|
|
|
|
NM_006939.4(SOS2):c.3489+4dup
|
|
|
|
NM_006939.4(SOS2):c.3489+8del
|
|
|
|
NM_006939.4(SOS2):c.3489+9C>T
|
|
|
|
NM_006939.4(SOS2):c.348A>G (p.Glu116=)
|
|
|
|
NM_006939.4(SOS2):c.3490-10_3490-9insC
|
|
|
|
NM_006939.4(SOS2):c.3490-13_3490-11dup
|
rs10658395
|
|
|
NM_006939.4(SOS2):c.3490-13_3490-12dup
|
rs10658395
|
|
|
NM_006939.4(SOS2):c.3490-13dup
|
rs10658395
|
|
|
NM_006939.4(SOS2):c.3490-14dup
|
|
|
|
NM_006939.4(SOS2):c.3490-18A>G
|
|
|
|
NM_006939.4(SOS2):c.3490-18del
|
rs1302818165
|
|
|
NM_006939.4(SOS2):c.3490-2dup
|
rs2139465845
|
|
|
NM_006939.4(SOS2):c.3490-4del
|
rs10658395
|
|
|
NM_006939.4(SOS2):c.3501A>G (p.Lys1167=)
|
|
|
|
NM_006939.4(SOS2):c.3506A>T (p.Asp1169Val)
|
|
|
|
NM_006939.4(SOS2):c.3508G>T (p.Asp1170Tyr)
|
|
|
|
NM_006939.4(SOS2):c.3510T>C (p.Asp1170=)
|
|
|
|
NM_006939.4(SOS2):c.3513T>C (p.Asp1171=)
|
|
|
|
NM_006939.4(SOS2):c.3521C>T (p.Ala1174Val)
|
|
|
|
NM_006939.4(SOS2):c.3526C>A (p.Pro1176Thr)
|
|
|
|
NM_006939.4(SOS2):c.3528A>G (p.Pro1176=)
|
|
|
|
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu)
|
rs1566814839
|
|
|
NM_006939.4(SOS2):c.3534A>G (p.Arg1178=)
|
|
|
|
NM_006939.4(SOS2):c.3539C>T (p.Pro1180Leu)
|
|
|
|
NM_006939.4(SOS2):c.3540T>G (p.Pro1180=)
|
rs1052780824
|
|
|
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup)
|
rs765097073
|
|
|
NM_006939.4(SOS2):c.3543T>C (p.Pro1181=)
|
|
|
|
NM_006939.4(SOS2):c.3544C>A (p.Pro1182Thr)
|
|
|
|
NM_006939.4(SOS2):c.3544C>T (p.Pro1182Ser)
|
|
|
|
NM_006939.4(SOS2):c.3559C>T (p.Pro1187Ser)
|
|
|
|
NM_006939.4(SOS2):c.355G>A (p.Gly119Arg)
|
|
|
|
NM_006939.4(SOS2):c.3560C>T (p.Pro1187Leu)
|
rs1594951526
|
|
|
NM_006939.4(SOS2):c.3561del (p.Arg1188fs)
|
|
|
|
NM_006939.4(SOS2):c.3571G>A (p.Val1191Ile)
|
|
|
|
NM_006939.4(SOS2):c.3571G>T (p.Val1191Phe)
|
rs934357386
|
|
|
NM_006939.4(SOS2):c.3574C>T (p.Pro1192Ser)
|
|
|
|
NM_006939.4(SOS2):c.3578C>T (p.Thr1193Ile)
|
|
|
|
NM_006939.4(SOS2):c.3583G>A (p.Ala1195Thr)
|
|
|
|
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val)
|
rs753151750
|
|
|
NM_006939.4(SOS2):c.3588T>C (p.Phe1196=)
|
rs768208805
|
|
|
NM_006939.4(SOS2):c.3591T>C (p.Asp1197=)
|
|
|
|
NM_006939.4(SOS2):c.3593G>C (p.Gly1198Ala)
|
rs2139465314
|
|
|
NM_006939.4(SOS2):c.3594G>A (p.Gly1198=)
|
|
|
|
NM_006939.4(SOS2):c.3598C>T (p.Leu1200=)
|
|
|
|
NM_006939.4(SOS2):c.3601_3605del (p.His1201fs)
|
|
|
|
NM_006939.4(SOS2):c.3605G>A (p.Ser1202Asn)
|
|
|
|
NM_006939.4(SOS2):c.3609A>T (p.Pro1203=)
|
|
|
|
NM_006939.4(SOS2):c.3613C>A (p.Pro1205Thr)
|
|
|
|
NM_006939.4(SOS2):c.3619_3620delinsGT (p.Pro1207Val)
|
|
|
|
NM_006939.4(SOS2):c.3621_3632del (p.Pro1208_Pro1211del)
|
|
|
|
NM_006939.4(SOS2):c.3624A>G (p.Pro1208=)
|
|
|
|
NM_006939.4(SOS2):c.3631C>G (p.Pro1211Ala)
|
|
|
|
NM_006939.4(SOS2):c.3632C>T (p.Pro1211Leu)
|
|
|
|
NM_006939.4(SOS2):c.3637_3693dup (p.Pro1231_Phe1232insProAspThrProProProValProLeuArgProProGluHisPheIleAsnCysPro)
|
|
|
|
NM_006939.4(SOS2):c.3638C>G (p.Pro1213Arg)
|
|
|
|
NM_006939.4(SOS2):c.3645C>G (p.Thr1215=)
|
|
|
|
NM_006939.4(SOS2):c.3655G>A (p.Val1219Ile)
|
|
|
|
NM_006939.4(SOS2):c.3663T>G (p.Leu1221=)
|
|
|
|
NM_006939.4(SOS2):c.3664C>T (p.Arg1222Trp)
|
|
|
|
NM_006939.4(SOS2):c.3665G>A (p.Arg1222Gln)
|
|
|
|
NM_006939.4(SOS2):c.3665G>C (p.Arg1222Pro)
|
|
|
|
NM_006939.4(SOS2):c.3665G>T (p.Arg1222Leu)
|
|
|
|
NM_006939.4(SOS2):c.3671C>T (p.Pro1224Leu)
|
rs1883396353
|
|
|
NM_006939.4(SOS2):c.3672A>C (p.Pro1224=)
|
|
|
|
NM_006939.4(SOS2):c.3677A>G (p.His1226Arg)
|
|
|
|
NM_006939.4(SOS2):c.3677A>T (p.His1226Leu)
|
|
|
|
NM_006939.4(SOS2):c.3681T>A (p.Phe1227Leu)
|
|
|
|
NM_006939.4(SOS2):c.3681T>C (p.Phe1227=)
|
|
|
|
NM_006939.4(SOS2):c.3682A>G (p.Ile1228Val)
|
|
|
|
NM_006939.4(SOS2):c.3684A>T (p.Ile1228=)
|
|
|
|
NM_006939.4(SOS2):c.3700C>G (p.Leu1234Val)
|
|
|
|
NM_006939.4(SOS2):c.3707C>T (p.Pro1236Leu)
|
rs1403796339
|
|
|
NM_006939.4(SOS2):c.3708A>G (p.Pro1236=)
|
|
|
|
NM_006939.4(SOS2):c.3714A>T (p.Pro1238=)
|
|
|
|
NM_006939.4(SOS2):c.3719G>A (p.Gly1240Glu)
|
|
|
|
NM_006939.4(SOS2):c.3719G>C (p.Gly1240Ala)
|
|
|
|
NM_006939.4(SOS2):c.3721C>T (p.His1241Tyr)
|
|
|
|
NM_006939.4(SOS2):c.3722A>G (p.His1241Arg)
|
|
|
|
NM_006939.4(SOS2):c.3730A>G (p.Arg1244Gly)
|
|
|
|
NM_006939.4(SOS2):c.3741C>G (p.Asp1247Glu)
|
rs1883393016
|
|
|
NM_006939.4(SOS2):c.3747C>T (p.Leu1249=)
|
|
|
|
NM_006939.4(SOS2):c.374A>G (p.His125Arg)
|
|
|
|
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del)
|
rs775506222
|
|
|
NM_006939.4(SOS2):c.3756T>G (p.Ile1252Met)
|
|
|
|
NM_006939.4(SOS2):c.3758G>A (p.Ser1253Asn)
|
|
|
|
NM_006939.4(SOS2):c.375T>C (p.His125=)
|
|
|
|
NM_006939.4(SOS2):c.3761C>T (p.Thr1254Met)
|
|
|
|
NM_006939.4(SOS2):c.3762G>A (p.Thr1254=)
|
rs769536087
|
|
|
NM_006939.4(SOS2):c.3767C>A (p.Pro1256Gln)
|
|
|
|
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala)
|
rs1344396759
|
|
|
NM_006939.4(SOS2):c.3773C>T (p.Ser1258Leu)
|
|
|
|
NM_006939.4(SOS2):c.3779G>A (p.Ser1260Asn)
|
|
|
|
NM_006939.4(SOS2):c.3781A>C (p.Thr1261Pro)
|
rs1555367637
|
|
|
NM_006939.4(SOS2):c.3785C>T (p.Pro1262Leu)
|
rs2139464111
|
|
|
NM_006939.4(SOS2):c.3794C>T (p.Thr1265Ile)
|
rs2139464050
|
|
|
NM_006939.4(SOS2):c.3797C>T (p.Pro1266Leu)
|
rs2139464021
|
|
|
NM_006939.4(SOS2):c.3798C>G (p.Pro1266=)
|
rs1271341173
|
|
|
NM_006939.4(SOS2):c.37GAG[1] (p.Glu14del)
|
|
|
|
NM_006939.4(SOS2):c.3800C>T (p.Ser1267Phe)
|
|
|
|
NM_006939.4(SOS2):c.3802C>A (p.Pro1268Thr)
|
|
|
|
NM_006939.4(SOS2):c.3808G>A (p.Val1270Ile)
|
|
|
|
NM_006939.4(SOS2):c.3810A>G (p.Val1270=)
|
|
|
|
NM_006939.4(SOS2):c.3812C>T (p.Pro1271Leu)
|
|
|
|
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=)
|
rs2227276
|
|
|
NM_006939.4(SOS2):c.3813G>C (p.Pro1271=)
|
rs2227276
|
|
|
NM_006939.4(SOS2):c.3813G>T (p.Pro1271=)
|
|
|
|
NM_006939.4(SOS2):c.3814C>A (p.Arg1272Ser)
|
rs1005498417
|
|
|
NM_006939.4(SOS2):c.3817C>G (p.Arg1273Gly)
|
|
|
|
NM_006939.4(SOS2):c.3817C>T (p.Arg1273Ter)
|
|
|
|
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)
|
rs58365465
|
|
|
NM_006939.4(SOS2):c.381C>T (p.Ser127=)
|
|
|
|
NM_006939.4(SOS2):c.3832A>G (p.Ser1278Gly)
|
|
|
|
NM_006939.4(SOS2):c.3837T>C (p.Ser1279=)
|
|
|
|
NM_006939.4(SOS2):c.3842A>G (p.Gln1281Arg)
|
|
|
|
NM_006939.4(SOS2):c.3849T>C (p.Asn1283=)
|
|
|
|
NM_006939.4(SOS2):c.3850C>G (p.Leu1284Val)
|
|
|
|
NM_006939.4(SOS2):c.3862C>T (p.Pro1288Ser)
|
|
|
|
NM_006939.4(SOS2):c.3869C>A (p.Pro1290His)
|
rs1244881868
|
|
|
NM_006939.4(SOS2):c.3872_3873del (p.Pro1291fs)
|
|
|
|
NM_006939.4(SOS2):c.3898C>T (p.Pro1300Ser)
|
|
|
|
NM_006939.4(SOS2):c.3901C>T (p.His1301Tyr)
|
|
|
|
NM_006939.4(SOS2):c.3906G>A (p.Leu1302=)
|
|
|
|
NM_006939.4(SOS2):c.390T>G (p.Ile130Met)
|
rs1886426829
|
|
|
NM_006939.4(SOS2):c.3920del (p.Pro1307fs)
|
|
|
|
NM_006939.4(SOS2):c.3930C>G (p.Tyr1310Ter)
|
rs1214781595
|
|
|
NM_006939.4(SOS2):c.3934C>A (p.Arg1312=)
|
rs775973831
|
|
|
NM_006939.4(SOS2):c.3934C>T (p.Arg1312Trp)
|
|
|
|
NM_006939.4(SOS2):c.3935G>A (p.Arg1312Gln)
|
|
|
|
NM_006939.4(SOS2):c.3951C>G (p.Pro1317=)
|
|
|
|
NM_006939.4(SOS2):c.3951C>T (p.Pro1317=)
|
|
|
|
NM_006939.4(SOS2):c.3952C>A (p.Pro1318Thr)
|
|
|
|
NM_006939.4(SOS2):c.3952C>G (p.Pro1318Ala)
|
|
|
|
NM_006939.4(SOS2):c.3953C>A (p.Pro1318Gln)
|
|
|
|
NM_006939.4(SOS2):c.3957G>T (p.Leu1319Phe)
|
rs2139462748
|
|
|
NM_006939.4(SOS2):c.3958T>C (p.Tyr1320His)
|
rs950322034
|
|
|
NM_006939.4(SOS2):c.395C>T (p.Ala132Val)
|
|
|
|
NM_006939.4(SOS2):c.3968C>T (p.Pro1323Leu)
|
rs886041929
|
|
|
NM_006939.4(SOS2):c.3975A>G (p.Leu1325=)
|
|
|
|
NM_006939.4(SOS2):c.3980del (p.Asn1327fs)
|
|
|
|
NM_006939.4(SOS2):c.3993C>T (p.Pro1331=)
|
|
|
|
NM_006939.4(SOS2):c.3996A>G (p.Gln1332=)
|
|
|
|
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
|
|
|
|
NM_006939.4(SOS2):c.399A>C (p.Val133=)
|
rs144584870
|
|
|
NM_006939.4(SOS2):c.399A>G (p.Val133=)
|
rs144584870
|
|
|
NM_006939.4(SOS2):c.399A>T (p.Val133=)
|
|
|
|
NM_006939.4(SOS2):c.405G>A (p.Glu135=)
|
rs754980356
|
|
|
NM_006939.4(SOS2):c.414A>G (p.Ser138=)
|
|
|
|
NM_006939.4(SOS2):c.42G>T (p.Glu14Asp)
|
|
|
|
NM_006939.4(SOS2):c.431T>A (p.Leu144Ter)
|
|
|
|
NM_006939.4(SOS2):c.432G>A (p.Leu144=)
|
rs1051166055
|
|
|
NM_006939.4(SOS2):c.439A>G (p.Asn147Asp)
|
|
|
|
NM_006939.4(SOS2):c.449T>C (p.Phe150Ser)
|
rs1886424881
|
|
|
NM_006939.4(SOS2):c.453T>C (p.Asn151=)
|
rs2139778987
|
|
|
NM_006939.4(SOS2):c.454A>T (p.Ile152Phe)
|
|
|
|
NM_006939.4(SOS2):c.459G>A (p.Arg153=)
|
|
|
|
NM_006939.4(SOS2):c.460C>A (p.His154Asn)
|
|
|
|
NM_006939.4(SOS2):c.462T>G (p.His154Gln)
|
|
|
|
NM_006939.4(SOS2):c.465T>C (p.Tyr155=)
|
|
|
|
NM_006939.4(SOS2):c.468A>C (p.Glu156Asp)
|
|
|
|
NM_006939.4(SOS2):c.472T>C (p.Ser158Pro)
|
|
|
|
NM_006939.4(SOS2):c.476A>G (p.Gln159Arg)
|
|
|
|
NM_006939.4(SOS2):c.483C>T (p.Asp161=)
|
|
|
|
NM_006939.4(SOS2):c.487A>G (p.Lys163Glu)
|
|
|
|
NM_006939.4(SOS2):c.489A>G (p.Lys163=)
|
|
|
|
NM_006939.4(SOS2):c.490G>A (p.Val164Met)
|
|
|
|
NM_006939.4(SOS2):c.49C>T (p.Pro17Ser)
|
rs750929787
|
|
|
NM_006939.4(SOS2):c.502G>A (p.Ala168Thr)
|
rs2139778845
|
|
|
NM_006939.4(SOS2):c.503C>T (p.Ala168Val)
|
|
|
|
NM_006939.4(SOS2):c.507T>A (p.Asp169Glu)
|
|
|
|
NM_006939.4(SOS2):c.510+11C>A
|
rs113890555
|
|
|
NM_006939.4(SOS2):c.510+15G>A
|
rs1359205719
|
|
|
NM_006939.4(SOS2):c.510+15G>T
|
|
|
|
NM_006939.4(SOS2):c.510+16del
|
|
|
|
NM_006939.4(SOS2):c.510+3A>G
|
|
|
|
NM_006939.4(SOS2):c.510+3_510+6del
|
|
|
|
NM_006939.4(SOS2):c.511-11C>T
|
rs2139734747
|
|
|
NM_006939.4(SOS2):c.511-16G>A
|
|
|
|
NM_006939.4(SOS2):c.511-17T>A
|
|
|
|
NM_006939.4(SOS2):c.511-20T>C
|
|
|
|
NM_006939.4(SOS2):c.511-24_511-18del
|
|
|
|
NM_006939.4(SOS2):c.511-8T>C
|
|
|
|
NM_006939.4(SOS2):c.511G>A (p.Val171Ile)
|
|
|
|
NM_006939.4(SOS2):c.516G>C (p.Leu172Phe)
|
rs561507728
|
|
|
NM_006939.4(SOS2):c.521A>G (p.Asp174Gly)
|
rs2139734704
|
|
|
NM_006939.4(SOS2):c.523A>C (p.Met175Leu)
|
rs1336823806
|
|
|
NM_006939.4(SOS2):c.523A>G (p.Met175Val)
|
|
|
|
NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)
|
|
|
|
NM_006939.4(SOS2):c.534G>T (p.Gln178His)
|
rs2139734609
|
|
|
NM_006939.4(SOS2):c.541A>C (p.Ile181Leu)
|
|
|
|
NM_006939.4(SOS2):c.541A>G (p.Ile181Val)
|
|
|
|
NM_006939.4(SOS2):c.541A>T (p.Ile181Leu)
|
|
|
|
NM_006939.4(SOS2):c.542T>C (p.Ile181Thr)
|
rs1886006429
|
|
|
NM_006939.4(SOS2):c.545G>T (p.Gly182Val)
|
rs149487643
|
|
|
NM_006939.4(SOS2):c.546T>A (p.Gly182=)
|
|
|
|
NM_006939.4(SOS2):c.549G>T (p.Leu183Phe)
|
rs137961578
|
|
|
NM_006939.4(SOS2):c.550G>C (p.Val184Leu)
|
|
|
|
NM_006939.4(SOS2):c.551T>C (p.Val184Ala)
|
|
|
|
NM_006939.4(SOS2):c.556C>G (p.Leu186Val)
|
rs2139734457
|
|
|
NM_006939.4(SOS2):c.561T>G (p.Cys187Trp)
|
|
|
|
NM_006939.4(SOS2):c.563A>G (p.Glu188Gly)
|
|
|
|
NM_006939.4(SOS2):c.564A>G (p.Glu188=)
|
|
|
|
NM_006939.4(SOS2):c.567T>C (p.Asp189=)
|
|
|
|
NM_006939.4(SOS2):c.572C>A (p.Pro191His)
|
rs72681869
|
|
|
NM_006939.4(SOS2):c.574A>C (p.Ser192Arg)
|
rs1886005265
|
|
|
NM_006939.4(SOS2):c.577TCT[1] (p.Ser194del)
|
rs769352438
|
|
|
NM_006939.4(SOS2):c.583G>A (p.Gly195Ser)
|
|
|
|
NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)
|
|
|
|
NM_006939.4(SOS2):c.586G>C (p.Glu196Gln)
|
|
|
|
NM_006939.4(SOS2):c.609C>T (p.Val203=)
|
|
|
|
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr)
|
rs61755579
|
|
|
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser)
|
rs61755579
|
|
|
NM_006939.4(SOS2):c.642A>C (p.Leu214=)
|
rs2139734016
|
|
|
NM_006939.4(SOS2):c.655A>G (p.Met219Val)
|
|
|
|
NM_006939.4(SOS2):c.662T>C (p.Ile221Thr)
|
rs2139733977
|
|
|
NM_006939.4(SOS2):c.66G>A (p.Leu22=)
|
|
|
|
NM_006939.4(SOS2):c.674G>T (p.Arg225Leu)
|
|
|
|
NM_006939.4(SOS2):c.679G>A (p.Ala227Thr)
|
|
|
|
NM_006939.4(SOS2):c.67T>C (p.Leu23=)
|
|
|
|
NM_006939.4(SOS2):c.693T>C (p.Asp231=)
|
rs2139733831
|
|
|
NM_006939.4(SOS2):c.698A>G (p.Lys233Arg)
|
|
|
|
NM_006939.4(SOS2):c.69G>C (p.Leu23Phe)
|
|
|
|
NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
|
|
|
|
NM_006939.4(SOS2):c.708A>G (p.Lys236=)
|
|
|
|
NM_006939.4(SOS2):c.710del (p.Pro237fs)
|
rs2139733738
|
|
|
NM_006939.4(SOS2):c.714+12T>C
|
|
|
|
NM_006939.4(SOS2):c.714+14T>A
|
|
|
|
NM_006939.4(SOS2):c.714+14del
|
rs2139733668
|
|
|
NM_006939.4(SOS2):c.714+19T>G
|
|
|
|
NM_006939.4(SOS2):c.714+1G>A
|
|
|
|
NM_006939.4(SOS2):c.714+9C>T
|
|
|
|
NM_006939.4(SOS2):c.715-12_715-8del
|
|
|
|
NM_006939.4(SOS2):c.715-15C>T
|
rs2139710269
|
|
|
NM_006939.4(SOS2):c.715-15_715-12del
|
|
|
|
NM_006939.4(SOS2):c.715-18_715-17inv
|
|
|
|
NM_006939.4(SOS2):c.715-20C>G
|
|
|
|
NM_006939.4(SOS2):c.715-3C>T
|
|
|
|
NM_006939.4(SOS2):c.715-4T>A
|
|
|
|
NM_006939.4(SOS2):c.715G>A (p.Asp239Asn)
|
|
|
|
NM_006939.4(SOS2):c.718A>G (p.Ile240Val)
|
rs1885779266
|
|
|
NM_006939.4(SOS2):c.724A>G (p.Lys242Glu)
|
|
|
|
NM_006939.4(SOS2):c.726G>T (p.Lys242Asn)
|
|
|
|
NM_006939.4(SOS2):c.72C>A (p.Val24=)
|
|
|
|
NM_006939.4(SOS2):c.744A>G (p.Ser248=)
|
rs2139710078
|
|
|
NM_006939.4(SOS2):c.757T>C (p.Leu253=)
|
|
|
|
NM_006939.4(SOS2):c.762T>A (p.Thr254=)
|
|
|
|
NM_006939.4(SOS2):c.764_765del (p.Val255fs)
|
|
|
|
NM_006939.4(SOS2):c.772T>G (p.Leu258Val)
|
|
|
|
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
|
|
|
|
NM_006939.4(SOS2):c.776G>A (p.Gly259Asp)
|
|
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
|
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)
|
rs797045167
|
|
|
NM_006939.4(SOS2):c.800T>C (p.Met267Thr)
|
rs797045167
|
|
|
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
|
|
|
|
NM_006939.4(SOS2):c.803C>T (p.Thr268Ile)
|
|
|
|
NM_006939.4(SOS2):c.806A>G (p.Asp269Gly)
|
|
|
|
NM_006939.4(SOS2):c.817C>G (p.Pro273Ala)
|
|
|
|
NM_006939.4(SOS2):c.825C>G (p.Pro275=)
|
|
|
|
NM_006939.4(SOS2):c.835A>C (p.Ser279Arg)
|
|
|
|
NM_006939.4(SOS2):c.838T>C (p.Cys280Arg)
|
rs2139709714
|
|
|
NM_006939.4(SOS2):c.83G>A (p.Arg28Gln)
|
|
|
|
NM_006939.4(SOS2):c.842T>C (p.Phe281Ser)
|
rs1555371627
|
|
|
NM_006939.4(SOS2):c.843T>C (p.Phe281=)
|
rs2139709667
|
|
|
NM_006939.4(SOS2):c.846A>G (p.Glu282=)
|
rs776312082
|
|
|
NM_006939.4(SOS2):c.849T>C (p.Asp283=)
|
|
|
|
NM_006939.4(SOS2):c.851del (p.Leu284fs)
|
|
|
|
NM_006939.4(SOS2):c.852G>A (p.Leu284=)
|
|
|
|
NM_006939.4(SOS2):c.858+12A>C
|
|
|
|
NM_006939.4(SOS2):c.858+12A>G
|
rs1318750223
|
|
|
NM_006939.4(SOS2):c.858+17A>G
|
|
|
|
NM_006939.4(SOS2):c.858+19T>A
|
rs780544622
|
|
|
NM_006939.4(SOS2):c.858+20T>C
|
|
|
|
NM_006939.4(SOS2):c.858+5G>C
|
|
|
|
NM_006939.4(SOS2):c.859-16_859-15del
|
|
|
|
NM_006939.4(SOS2):c.859-19T>A
|
|
|
|
NM_006939.4(SOS2):c.859-19T>C
|
rs1435577590
|
|
|
NM_006939.4(SOS2):c.859-19del
|
|
|
|
NM_006939.4(SOS2):c.859-3T>C
|
|
|
|
NM_006939.4(SOS2):c.859-4del
|
rs776327707
|
|
|
NM_006939.4(SOS2):c.864A>G (p.Gln288=)
|
|
|
|
NM_006939.4(SOS2):c.87+10A>C
|
|
|
|
NM_006939.4(SOS2):c.87+10del
|
|
|
|
NM_006939.4(SOS2):c.87+11G>A
|
|
|
|
NM_006939.4(SOS2):c.87+11G>C
|
|
|
|
NM_006939.4(SOS2):c.87+11_87+12insCT
|
|
|
|
NM_006939.4(SOS2):c.87+18G>A
|
|
|
|
NM_006939.4(SOS2):c.88-12T>C
|
|
|
|
NM_006939.4(SOS2):c.88-14dup
|
rs779198092
|
|
|
NM_006939.4(SOS2):c.88-16T>C
|
|
|
|
NM_006939.4(SOS2):c.88-19T>C
|
|
|
|
NM_006939.4(SOS2):c.88-19T>G
|
|
|
|
NM_006939.4(SOS2):c.88-6T>G
|
|
|
|
NM_006939.4(SOS2):c.88-6_88-5insC
|
|
|
|
NM_006939.4(SOS2):c.88-8T>C
|
|
|
|
NM_006939.4(SOS2):c.88-9T>G
|
|
|
|
NM_006939.4(SOS2):c.892C>T (p.Gln298Ter)
|
|
|
|
NM_006939.4(SOS2):c.894G>A (p.Gln298=)
|
rs1477278734
|
|
|
NM_006939.4(SOS2):c.898A>G (p.Ile300Val)
|
rs1248787575
|
|
|
NM_006939.4(SOS2):c.907C>T (p.Pro303Ser)
|
|
|
|
NM_006939.4(SOS2):c.908C>T (p.Pro303Leu)
|
|
|
|
NM_006939.4(SOS2):c.910G>C (p.Glu304Gln)
|
|
|
|
NM_006939.4(SOS2):c.917A>G (p.His306Arg)
|
|
|
|
NM_006939.4(SOS2):c.932A>C (p.Lys311Thr)
|
|
|
|
NM_006939.4(SOS2):c.934T>C (p.Leu312=)
|
|
|
|
NM_006939.4(SOS2):c.940G>A (p.Ala314Thr)
|
rs1885702958
|
|
|
NM_006939.4(SOS2):c.942C>G (p.Ala314=)
|
|
|
|
NM_006939.4(SOS2):c.944G>A (p.Arg315Lys)
|
rs2139702139
|
|
|
NM_006939.4(SOS2):c.949G>A (p.Ala317Thr)
|
rs2139702095
|
|
|
NM_006939.4(SOS2):c.955G>A (p.Ala319Thr)
|
|
|
|
NM_006939.4(SOS2):c.956C>T (p.Ala319Val)
|
rs1329480973
|
|
|
NM_006939.4(SOS2):c.957T>C (p.Ala319=)
|
|
|
|
NM_006939.4(SOS2):c.958C>G (p.Leu320Val)
|
|
|
|
NM_006939.4(SOS2):c.960A>G (p.Leu320=)
|
|
|
|
NM_006939.4(SOS2):c.961C>T (p.His321Tyr)
|
|
|
|
NM_006939.4(SOS2):c.969+13T>C
|
|
|
|
NM_006939.4(SOS2):c.969+18G>T
|
|
|
|
NM_006939.4(SOS2):c.969+18dup
|
|
|
|
NM_006939.4(SOS2):c.969+19T>G
|
|
|
|
NM_006939.4(SOS2):c.969+20T>C
|
|
|
|
NM_006939.4(SOS2):c.969+5A>G
|
|
|
|
NM_006939.4(SOS2):c.969+6C>T
|
rs1194667646
|
|
|
NM_006939.4(SOS2):c.970-15C>A
|
|
|
|
NM_006939.4(SOS2):c.970-15C>G
|
|
|
|
NM_006939.4(SOS2):c.970-16T>C
|
|
|
|
NM_006939.4(SOS2):c.975T>G (p.Ile325Met)
|
rs2139679163
|
|
|
NM_006939.4(SOS2):c.980A>T (p.Asp327Val)
|
|
|
|
NM_006939.4(SOS2):c.986_987del (p.Gly328_Phe329insTer)
|
|
|
|
NM_006939.4(SOS2):c.988A>T (p.Lys330Ter)
|
|
|
|
NM_006939.4(SOS2):c.995C>G (p.Ala332Gly)
|
|
|
|
NM_006939.4(SOS2):c.99A>G (p.Gln33=)
|
|
|
|
NM_012431.3(SEMA3E):c.1009C>A (p.Arg337=)
|
rs965528935
|
|
|
NM_012431.3(SEMA3E):c.1009C>T (p.Arg337Ter)
|
rs965528935
|
|
|
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val)
|
|
|
|
NM_012431.3(SEMA3E):c.1025G>A (p.Cys342Tyr)
|
|
|
|
NM_012431.3(SEMA3E):c.102C>T (p.Arg34=)
|
|
|
|
NM_012431.3(SEMA3E):c.1034A>G (p.His345Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.1040C>T (p.Ser347Phe)
|
|
|
|
NM_012431.3(SEMA3E):c.1044C>T (p.Ser348=)
|
|
|
|
NM_012431.3(SEMA3E):c.1046T>C (p.Ile349Thr)
|
|
|
|
NM_012431.3(SEMA3E):c.1052C>T (p.Ala351Val)
|
|
|
|
NM_012431.3(SEMA3E):c.1062C>T (p.Asn354=)
|
|
|
|
NM_012431.3(SEMA3E):c.1076A>T (p.His359Leu)
|
rs373965521
|
|
|
NM_012431.3(SEMA3E):c.1085G>A (p.Gly362Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.108A>G (p.Ser36=)
|
|
|
|
NM_012431.3(SEMA3E):c.1099T>C (p.Trp367Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.110A>G (p.His37Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.1120G>A (p.Val374Ile)
|
rs1788253309
|
|
|
NM_012431.3(SEMA3E):c.1125T>G (p.Pro375=)
|
rs2115627595
|
|
|
NM_012431.3(SEMA3E):c.112A>C (p.Lys38Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1131A>G (p.Pro377=)
|
|
|
|
NM_012431.3(SEMA3E):c.1138G>C (p.Gly380Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.1141T>C (p.Ser381Pro)
|
|
|
|
NM_012431.3(SEMA3E):c.1143+15A>G
|
|
|
|
NM_012431.3(SEMA3E):c.1143+17A>G
|
|
|
|
NM_012431.3(SEMA3E):c.1144-12C>T
|
|
|
|
NM_012431.3(SEMA3E):c.1144-13A>G
|
|
|
|
NM_012431.3(SEMA3E):c.1144-15C>A
|
|
|
|
NM_012431.3(SEMA3E):c.1144-19_1144-15del
|
rs755190119
|
|
|
NM_012431.3(SEMA3E):c.1144-7T>C
|
rs1370491845
|
|
|
NM_012431.3(SEMA3E):c.1146T>C (p.Cys382=)
|
|
|
|
NM_012431.3(SEMA3E):c.115+4G>A
|
|
|
|
NM_012431.3(SEMA3E):c.115+9C>G
|
|
|
|
NM_012431.3(SEMA3E):c.1154A>G (p.Lys385Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.1154A>T (p.Lys385Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.116-10T>A
|
rs1562804630
|
|
|
NM_012431.3(SEMA3E):c.116-16T>A
|
rs771714740
|
|
|
NM_012431.3(SEMA3E):c.116-19G>A
|
|
|
|
NM_012431.3(SEMA3E):c.116-7A>T
|
rs2115977179
|
|
|
NM_012431.3(SEMA3E):c.1171T>C (p.Tyr391His)
|
rs2115617387
|
|
|
NM_012431.3(SEMA3E):c.1177A>T (p.Thr393Ser)
|
rs1027331615
|
|
|
NM_012431.3(SEMA3E):c.1182C>G (p.Thr394=)
|
|
|
|
NM_012431.3(SEMA3E):c.1194T>C (p.Pro398=)
|
|
|
|
NM_012431.3(SEMA3E):c.1195G>A (p.Asp399Asn)
|
|
|
|
NM_012431.3(SEMA3E):c.11C>T (p.Ala4Val)
|
|
|
|
NM_012431.3(SEMA3E):c.1207C>T (p.Arg403Ter)
|
|
|
|
NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1216A>G (p.Arg406Gly)
|
rs1584221582
|
|
|
NM_012431.3(SEMA3E):c.1220G>A (p.Ser407Asn)
|
rs769258588
|
|
|
NM_012431.3(SEMA3E):c.1233G>A (p.Met411Ile)
|
rs2115616756
|
|
|
NM_012431.3(SEMA3E):c.123G>A (p.Leu41=)
|
rs2115977130
|
|
|
NM_012431.3(SEMA3E):c.1240G>A (p.Ala414Thr)
|
|
|
|
NM_012431.3(SEMA3E):c.1243A>T (p.Ile415Leu)
|
rs1180431769
|
|
|
NM_012431.3(SEMA3E):c.1251T>G (p.Pro417=)
|
rs2115616642
|
|
|
NM_012431.3(SEMA3E):c.1259A>G (p.Lys420Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.1260A>G (p.Lys420=)
|
|
|
|
NM_012431.3(SEMA3E):c.1263A>G (p.Lys421=)
|
|
|
|
NM_012431.3(SEMA3E):c.1264C>A (p.Pro422Thr)
|
|
|
|
NM_012431.3(SEMA3E):c.1269A>G (p.Ile423Met)
|
|
|
|
NM_012431.3(SEMA3E):c.1273G>A (p.Val425Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.1295A>G (p.Asn432Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.1296C>A (p.Asn432Lys)
|
rs769637710
|
|
|
NM_012431.3(SEMA3E):c.1309G>A (p.Ala437Thr)
|
rs781593656
|
|
|
NM_012431.3(SEMA3E):c.1319G>A (p.Arg440Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1324G>C (p.Glu442Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1341A>C (p.Gln447His)
|
|
|
|
NM_012431.3(SEMA3E):c.1341A>G (p.Gln447=)
|
rs149235216
|
|
|
NM_012431.3(SEMA3E):c.1346A>T (p.Asp449Val)
|
rs1788206837
|
|
|
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=)
|
rs148072082
|
|
|
NM_012431.3(SEMA3E):c.1359T>C (p.Ile453=)
|
|
|
|
NM_012431.3(SEMA3E):c.1362G>C (p.Gly454=)
|
|
|
|
NM_012431.3(SEMA3E):c.1363A>G (p.Thr455Ala)
|
|
|
|
NM_012431.3(SEMA3E):c.1366+11G>T
|
|
|
|
NM_012431.3(SEMA3E):c.1366+1G>T
|
|
|
|
NM_012431.3(SEMA3E):c.1366+5A>C
|
|
|
|
NM_012431.3(SEMA3E):c.1367-17GTTTT[3]
|
|
|
|
NM_012431.3(SEMA3E):c.1367-20C>T
|
|
|
|
NM_012431.3(SEMA3E):c.1367-7C>T
|
rs2115601484
|
|
|
NM_012431.3(SEMA3E):c.1381C>T (p.Leu461=)
|
|
|
|
NM_012431.3(SEMA3E):c.1383G>A (p.Leu461=)
|
rs139043841
|
|
|
NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val)
|
|
|
|
NM_012431.3(SEMA3E):c.1392C>T (p.Ile464=)
|
|
|
|
NM_012431.3(SEMA3E):c.1393A>C (p.Thr465Pro)
|
|
|
|
NM_012431.3(SEMA3E):c.1404C>G (p.Asn468Lys)
|
|
|
|
NM_012431.3(SEMA3E):c.1405C>G (p.Gln469Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.1411A>G (p.Met471Val)
|
rs575712751
|
|
|
NM_012431.3(SEMA3E):c.1444C>A (p.Leu482Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.1457A>T (p.Lys486Met)
|
rs1788128084
|
|
|
NM_012431.3(SEMA3E):c.1458+11C>T
|
|
|
|
NM_012431.3(SEMA3E):c.1458+19A>G
|
rs2115600702
|
|
|
NM_012431.3(SEMA3E):c.1458+1G>T
|
|
|
|
NM_012431.3(SEMA3E):c.1459-11del
|
|
|
|
NM_012431.3(SEMA3E):c.1459-11dup
|
rs1788078377
|
|
|
NM_012431.3(SEMA3E):c.1459-12_1459-11del
|
rs1788078377
|
|
|
NM_012431.3(SEMA3E):c.1459-17del
|
rs2115589623
|
|
|
NM_012431.3(SEMA3E):c.1461T>C (p.Asp487=)
|
|
|
|
NM_012431.3(SEMA3E):c.1462C>G (p.Pro488Ala)
|
|
|
|
NM_012431.3(SEMA3E):c.1476T>A (p.Ile492=)
|
|
|
|
NM_012431.3(SEMA3E):c.1484A>C (p.Glu495Ala)
|
|
|
|
NM_012431.3(SEMA3E):c.1485G>A (p.Glu495=)
|
|
|
|
NM_012431.3(SEMA3E):c.1498C>T (p.Arg500Trp)
|
rs111300014
|
|
|
NM_012431.3(SEMA3E):c.1499G>A (p.Arg500Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1500+14G>T
|
|
|
|
NM_012431.3(SEMA3E):c.1500+16G>A
|
|
|
|
NM_012431.3(SEMA3E):c.1500+6T>C
|
|
|
|
NM_012431.3(SEMA3E):c.1500G>A (p.Arg500=)
|
rs767115234
|
|
|
NM_012431.3(SEMA3E):c.1506G>C (p.Gln502His)
|
|
|
|
NM_012431.3(SEMA3E):c.150T>C (p.His50=)
|
|
|
|
NM_012431.3(SEMA3E):c.1518A>C (p.Gly506=)
|
rs1788042634
|
|
|
NM_012431.3(SEMA3E):c.1528G>C (p.Ala510Pro)
|
|
|
|
NM_012431.3(SEMA3E):c.1550A>G (p.His517Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)
|
|
|
|
NM_012431.3(SEMA3E):c.1563G>A (p.Met521Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.1563G>C (p.Met521Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.1565A>G (p.Tyr522Cys)
|
|
|
|
NM_012431.3(SEMA3E):c.157T>G (p.Phe53Val)
|
|
|
|
NM_012431.3(SEMA3E):c.1597C>T (p.Arg533Ter)
|
|
|
|
NM_012431.3(SEMA3E):c.15G>C (p.Gly5=)
|
|
|
|
NM_012431.3(SEMA3E):c.161G>A (p.Gly54Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.1620T>C (p.Asp540=)
|
|
|
|
NM_012431.3(SEMA3E):c.1630T>C (p.Cys544Arg)
|
rs2115581814
|
|
|
NM_012431.3(SEMA3E):c.1634C>G (p.Ser545Cys)
|
|
|
|
NM_012431.3(SEMA3E):c.1636C>T (p.Arg546Trp)
|
|
|
|
NM_012431.3(SEMA3E):c.1657C>G (p.His553Asp)
|
|
|
|
NM_012431.3(SEMA3E):c.1667+19T>A
|
|
|
|
NM_012431.3(SEMA3E):c.1667+8G>A
|
|
|
|
NM_012431.3(SEMA3E):c.1667+8G>T
|
|
|
|
NM_012431.3(SEMA3E):c.1668-10T>G
|
rs1284168796
|
|
|
NM_012431.3(SEMA3E):c.1668-18G>A
|
|
|
|
NM_012431.3(SEMA3E):c.1668-18G>T
|
rs771755120
|
|
|
NM_012431.3(SEMA3E):c.1686T>C (p.Asp562=)
|
|
|
|
NM_012431.3(SEMA3E):c.1691G>A (p.Arg564Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1695T>C (p.His565=)
|
|
|
|
NM_012431.3(SEMA3E):c.1709A>T (p.Gln570Leu)
|
rs1787895198
|
|
|
NM_012431.3(SEMA3E):c.1710G>A (p.Gln570=)
|
rs1584209229
|
|
|
NM_012431.3(SEMA3E):c.1727A>C (p.Gln576Pro)
|
|
|
|
NM_012431.3(SEMA3E):c.1728G>A (p.Gln576=)
|
rs2116918980
|
|
|
NM_012431.3(SEMA3E):c.1733T>C (p.Val578Ala)
|
rs776901860
|
|
|
NM_012431.3(SEMA3E):c.1735+17C>T
|
|
|
|
NM_012431.3(SEMA3E):c.1736-13G>T
|
rs1296337014
|
|
|
NM_012431.3(SEMA3E):c.1736-9C>T
|
|
|
|
NM_012431.3(SEMA3E):c.1736G>T (p.Gly579Val)
|
|
|
|
NM_012431.3(SEMA3E):c.1739A>T (p.Asp580Val)
|
rs754158945
|
|
|
NM_012431.3(SEMA3E):c.1745T>C (p.Leu582Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.1748A>G (p.Asp583Gly)
|
|
|
|
NM_012431.3(SEMA3E):c.1753A>G (p.Thr585Ala)
|
rs1166890439
|
|
|
NM_012431.3(SEMA3E):c.1803A>C (p.Glu601Asp)
|
|
|
|
NM_012431.3(SEMA3E):c.1806T>C (p.Cys602=)
|
|
|
|
NM_012431.3(SEMA3E):c.1809C>T (p.Thr603=)
|
|
|
|
NM_012431.3(SEMA3E):c.1811C>T (p.Pro604Leu)
|
|
|
|
NM_012431.3(SEMA3E):c.1814G>A (p.Arg605Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1822C>T (p.Gln608Ter)
|
|
|
|
NM_012431.3(SEMA3E):c.1826C>A (p.Ala609Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.1826C>G (p.Ala609Gly)
|
rs778141353
|
|
|
NM_012431.3(SEMA3E):c.1826C>T (p.Ala609Val)
|
|
|
|
NM_012431.3(SEMA3E):c.1828A>C (p.Lys610Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1828A>G (p.Lys610Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.1831G>A (p.Val611Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.1834A>G (p.Ile612Val)
|
|
|
|
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe)
|
rs560983031
|
|
|
NM_012431.3(SEMA3E):c.1834del (p.Ile612fs)
|
|
|
|
NM_012431.3(SEMA3E):c.1850A>G (p.Lys617Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.1854A>G (p.Gly618=)
|
|
|
|
NM_012431.3(SEMA3E):c.1857T>G (p.Arg619=)
|
|
|
|
NM_012431.3(SEMA3E):c.1861A>G (p.Thr621Ala)
|
|
|
|
NM_012431.3(SEMA3E):c.1862C>A (p.Thr621Lys)
|
|
|
|
NM_012431.3(SEMA3E):c.1875+15C>A
|
rs1325542892
|
|
|
NM_012431.3(SEMA3E):c.1875+17T>G
|
|
|
|
NM_012431.3(SEMA3E):c.1875+19T>C
|
|
|
|
NM_012431.3(SEMA3E):c.1875+20T>G
|
|
|
|
NM_012431.3(SEMA3E):c.1876-14T>A
|
rs891019060
|
|
|
NM_012431.3(SEMA3E):c.1876-20T>A
|
|
|
|
NM_012431.3(SEMA3E):c.1876-4G>T
|
rs1321372061
|
|
|
NM_012431.3(SEMA3E):c.1876-5T>C
|
rs1794699166
|
|
|
NM_012431.3(SEMA3E):c.1876-8T>C
|
|
|
|
NM_012431.3(SEMA3E):c.1876G>A (p.Val626Met)
|
rs2116892550
|
|
|
NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)
|
|
|
|
NM_012431.3(SEMA3E):c.1887T>A (p.Asp629Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.1888G>A (p.Asp630Asn)
|
|
|
|
NM_012431.3(SEMA3E):c.1890C>T (p.Asp630=)
|
|
|
|
NM_012431.3(SEMA3E):c.1893A>C (p.Arg631Ser)
|
rs900496407
|
|
|
NM_012431.3(SEMA3E):c.1900A>C (p.Lys634Gln)
|
rs1421745476
|
|
|
NM_012431.3(SEMA3E):c.1903A>T (p.Met635Leu)
|
|
|
|
NM_012431.3(SEMA3E):c.1914T>A (p.Gly638=)
|
rs1794698394
|
|
|
NM_012431.3(SEMA3E):c.1929G>C (p.Arg643Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.1932A>G (p.Leu644=)
|
|
|
|
NM_012431.3(SEMA3E):c.1933C>T (p.His645Tyr)
|
|
|
|
NM_012431.3(SEMA3E):c.1935C>A (p.His645Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.1939T>G (p.Ser647Ala)
|
rs2116892427
|
|
|
NM_012431.3(SEMA3E):c.1952C>G (p.Thr651Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.1953C>T (p.Thr651=)
|
|
|
|
NM_012431.3(SEMA3E):c.1967C>T (p.Thr656Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.1970T>C (p.Val657Ala)
|
|
|
|
NM_012431.3(SEMA3E):c.1992G>T (p.Thr664=)
|
|
|
|
NM_012431.3(SEMA3E):c.2004C>T (p.Ile668=)
|
|
|
|
NM_012431.3(SEMA3E):c.2006C>T (p.Thr669Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.2008T>C (p.Leu670=)
|
|
|
|
NM_012431.3(SEMA3E):c.2008T>G (p.Leu670Val)
|
|
|
|
NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)
|
|
|
|
NM_012431.3(SEMA3E):c.2026G>A (p.Glu676Lys)
|
|
|
|
NM_012431.3(SEMA3E):c.2027A>G (p.Glu676Gly)
|
rs775000046
|
|
|
NM_012431.3(SEMA3E):c.202G>A (p.Glu68Lys)
|
|
|
|
NM_012431.3(SEMA3E):c.2035G>A (p.Glu679Lys)
|
|
|
|
NM_012431.3(SEMA3E):c.2041A>G (p.Met681Val)
|
|
|
|
NM_012431.3(SEMA3E):c.2055C>T (p.Asp685=)
|
|
|
|
NM_012431.3(SEMA3E):c.2070G>A (p.Arg690=)
|
rs757700378
|
|
|
NM_012431.3(SEMA3E):c.2075A>G (p.His692Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.2079G>A (p.Arg693=)
|
|
|
|
NM_012431.3(SEMA3E):c.2090C>A (p.Pro697His)
|
|
|
|
NM_012431.3(SEMA3E):c.2109G>A (p.Ser703=)
|
|
|
|
NM_012431.3(SEMA3E):c.2116G>T (p.Ala706Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.2124A>G (p.Pro708=)
|
|
|
|
NM_012431.3(SEMA3E):c.214G>C (p.Val72Leu)
|
|
|
|
NM_012431.3(SEMA3E):c.214G>T (p.Val72Leu)
|
rs371960755
|
|
|
NM_012431.3(SEMA3E):c.2151C>G (p.Ile717Met)
|
|
|
|
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=)
|
rs375211355
|
|
|
NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp)
|
rs879255398
|
|
|
NM_012431.3(SEMA3E):c.2159G>C (p.Ser720Thr)
|
rs372156795
|
|
|
NM_012431.3(SEMA3E):c.2187C>T (p.Cys729=)
|
|
|
|
NM_012431.3(SEMA3E):c.2188G>T (p.Glu730Ter)
|
rs752107396
|
|
|
NM_012431.3(SEMA3E):c.2193A>G (p.Lys731=)
|
rs2116891865
|
|
|
NM_012431.3(SEMA3E):c.2196A>G (p.Val732=)
|
|
|
|
NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)
|
|
|
|
NM_012431.3(SEMA3E):c.2201G>C (p.Cys734Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.2208T>G (p.Asp736Glu)
|
rs200621696
|
|
|
NM_012431.3(SEMA3E):c.220G>A (p.Gly74Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.2212_2215del (p.Lys738fs)
|
|
|
|
NM_012431.3(SEMA3E):c.2216G>A (p.Arg739Lys)
|
rs750426538
|
|
|
NM_012431.3(SEMA3E):c.2224C>A (p.Leu742Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.2234C>T (p.Ser745Leu)
|
rs2116891755
|
|
|
NM_012431.3(SEMA3E):c.2239T>A (p.Ser747Thr)
|
|
|
|
NM_012431.3(SEMA3E):c.223A>G (p.Arg75Gly)
|
|
|
|
NM_012431.3(SEMA3E):c.2253T>C (p.Tyr751=)
|
|
|
|
NM_012431.3(SEMA3E):c.2280T>C (p.Arg760=)
|
|
|
|
NM_012431.3(SEMA3E):c.2282C>G (p.Ser761Cys)
|
|
|
|
NM_012431.3(SEMA3E):c.228C>A (p.Asp76Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.229C>T (p.Leu77Phe)
|
|
|
|
NM_012431.3(SEMA3E):c.2300G>T (p.Arg767Leu)
|
|
|
|
NM_012431.3(SEMA3E):c.2302C>T (p.Leu768=)
|
rs2116891596
|
|
|
NM_012431.3(SEMA3E):c.2303dup (p.Pro769fs)
|
rs2116891594
|
|
|
NM_012431.3(SEMA3E):c.2307C>T (p.Pro769=)
|
rs1199344717
|
|
|
NM_012431.3(SEMA3E):c.2312A>G (p.His771Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.2315C>T (p.Thr772Met)
|
|
|
|
NM_012431.3(SEMA3E):c.245G>T (p.Ser82Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.246C>T (p.Ser82=)
|
|
|
|
NM_012431.3(SEMA3E):c.249G>T (p.Leu83Phe)
|
rs2115976438
|
|
|
NM_012431.3(SEMA3E):c.25A>G (p.Thr9Ala)
|
|
|
|
NM_012431.3(SEMA3E):c.265G>C (p.Gly89Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.266G>C (p.Gly89Ala)
|
|
|
|
NM_012431.3(SEMA3E):c.274G>C (p.Glu92Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.276+10T>C
|
|
|
|
NM_012431.3(SEMA3E):c.277-13_277-2dup
|
|
|
|
NM_012431.3(SEMA3E):c.277A>T (p.Ile93Leu)
|
|
|
|
NM_012431.3(SEMA3E):c.281A>G (p.His94Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.287C>T (p.Pro96Leu)
|
|
|
|
NM_012431.3(SEMA3E):c.288G>C (p.Pro96=)
|
|
|
|
NM_012431.3(SEMA3E):c.289A>T (p.Ser97Cys)
|
rs1445294085
|
|
|
NM_012431.3(SEMA3E):c.306G>A (p.Met102Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.30G>A (p.Leu10=)
|
|
|
|
NM_012431.3(SEMA3E):c.316A>G (p.Ile106Val)
|
|
|
|
NM_012431.3(SEMA3E):c.320T>A (p.Met107Lys)
|
rs1429296509
|
|
|
NM_012431.3(SEMA3E):c.335C>A (p.Ala112Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.336+14A>G
|
|
|
|
NM_012431.3(SEMA3E):c.336+15T>C
|
|
|
|
NM_012431.3(SEMA3E):c.337-11del
|
rs536827692
|
|
|
NM_012431.3(SEMA3E):c.337-11dup
|
rs536827692
|
|
|
NM_012431.3(SEMA3E):c.337-18C>G
|
|
|
|
NM_012431.3(SEMA3E):c.337-1G>C
|
rs1311561381
|
|
|
NM_012431.3(SEMA3E):c.337-9C>T
|
rs1352755933
|
|
|
NM_012431.3(SEMA3E):c.344G>A (p.Cys115Tyr)
|
rs2115880845
|
|
|
NM_012431.3(SEMA3E):c.352T>C (p.Tyr118His)
|
rs1419581021
|
|
|
NM_012431.3(SEMA3E):c.358C>T (p.Arg120Trp)
|
|
|
|
NM_012431.3(SEMA3E):c.371A>G (p.His124Arg)
|
rs1487949587
|
|
|
NM_012431.3(SEMA3E):c.37T>C (p.Trp13Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.383C>A (p.Thr128Lys)
|
|
|
|
NM_012431.3(SEMA3E):c.387_388insAATAAAAACAATGCTTAAAACAACCTTGTTCTCAAAGAAAGACTACAGCATTT (p.Leu130delinsAsnLysAsnAsnAlaTer)
|
|
|
|
NM_012431.3(SEMA3E):c.393G>A (p.Leu131=)
|
|
|
|
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=)
|
rs1584267738
|
|
|
NM_012431.3(SEMA3E):c.39G>A (p.Trp13Ter)
|
|
|
|
NM_012431.3(SEMA3E):c.414T>C (p.Phe138=)
|
|
|
|
NM_012431.3(SEMA3E):c.41G>T (p.Gly14Val)
|
|
|
|
NM_012431.3(SEMA3E):c.420A>T (p.Pro140=)
|
|
|
|
NM_012431.3(SEMA3E):c.427G>A (p.Ala143Thr)
|
|
|
|
NM_012431.3(SEMA3E):c.433A>G (p.Ile145Val)
|
|
|
|
NM_012431.3(SEMA3E):c.439G>T (p.Val147Phe)
|
|
|
|
NM_012431.3(SEMA3E):c.441T>C (p.Val147=)
|
|
|
|
NM_012431.3(SEMA3E):c.445T>C (p.Tyr149His)
|
rs1789759218
|
|
|
NM_012431.3(SEMA3E):c.447T>A (p.Tyr149Ter)
|
rs1789759019
|
|
|
NM_012431.3(SEMA3E):c.456+11T>A
|
|
|
|
NM_012431.3(SEMA3E):c.456+19T>C
|
|
|
|
NM_012431.3(SEMA3E):c.456+5G>A
|
|
|
|
NM_012431.3(SEMA3E):c.457-42_457-19del
|
|
|
|
NM_012431.3(SEMA3E):c.461C>T (p.Pro154Leu)
|
|
|
|
NM_012431.3(SEMA3E):c.482C>A (p.Pro161His)
|
|
|
|
NM_012431.3(SEMA3E):c.494G>A (p.Arg165Lys)
|
|
|
|
NM_012431.3(SEMA3E):c.505A>C (p.Arg169=)
|
|
|
|
NM_012431.3(SEMA3E):c.508T>A (p.Cys170Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.517G>T (p.Asp173Tyr)
|
rs1562773446
|
|
|
NM_012431.3(SEMA3E):c.531C>T (p.Ser177=)
|
|
|
|
NM_012431.3(SEMA3E):c.532T>G (p.Phe178Val)
|
|
|
|
NM_012431.3(SEMA3E):c.535A>G (p.Ile179Val)
|
|
|
|
NM_012431.3(SEMA3E):c.537C>T (p.Ile179=)
|
rs944160895
|
|
|
NM_012431.3(SEMA3E):c.550+14C>T
|
|
|
|
NM_012431.3(SEMA3E):c.550+17C>T
|
|
|
|
NM_012431.3(SEMA3E):c.550+5T>C
|
|
|
|
NM_012431.3(SEMA3E):c.550+6T>A
|
rs1788600213
|
|
|
NM_012431.3(SEMA3E):c.551-10T>C
|
|
|
|
NM_012431.3(SEMA3E):c.551-11C>T
|
|
|
|
NM_012431.3(SEMA3E):c.551-14A>G
|
|
|
|
NM_012431.3(SEMA3E):c.551-14A>T
|
|
|
|
NM_012431.3(SEMA3E):c.551-18A>G
|
rs774812464
|
|
|
NM_012431.3(SEMA3E):c.551-19del
|
|
|
|
NM_012431.3(SEMA3E):c.551-3T>C
|
|
|
|
NM_012431.3(SEMA3E):c.551-3T>G
|
rs1351334262
|
|
|
NM_012431.3(SEMA3E):c.551-4G>A
|
rs1788369989
|
|
|
NM_012431.3(SEMA3E):c.551-7C>T
|
|
|
|
NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly)
|
|
|
|
NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)
|
|
|
|
NM_012431.3(SEMA3E):c.561G>T (p.Leu187Phe)
|
|
|
|
NM_012431.3(SEMA3E):c.566C>G (p.Ala189Gly)
|
|
|
|
NM_012431.3(SEMA3E):c.56T>G (p.Leu19Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.570A>T (p.Gly190=)
|
rs1788369340
|
|
|
NM_012431.3(SEMA3E):c.590G>A (p.Ser197Asn)
|
|
|
|
NM_012431.3(SEMA3E):c.598G>A (p.Ala200Thr)
|
|
|
|
NM_012431.3(SEMA3E):c.5C>T (p.Ala2Val)
|
|
|
|
NM_012431.3(SEMA3E):c.603_604delinsTG (p.Ile202Val)
|
rs2115654865
|
|
|
NM_012431.3(SEMA3E):c.603_604inv (p.Ile202Leu)
|
|
|
|
NM_012431.3(SEMA3E):c.609C>T (p.Phe203=)
|
|
|
|
NM_012431.3(SEMA3E):c.611G>A (p.Arg204His)
|
|
|
|
NM_012431.3(SEMA3E):c.612C>T (p.Arg204=)
|
rs2115654801
|
|
|
NM_012431.3(SEMA3E):c.624A>G (p.Arg208=)
|
|
|
|
NM_012431.3(SEMA3E):c.630C>T (p.Ala210=)
|
|
|
|
NM_012431.3(SEMA3E):c.638G>A (p.Arg213His)
|
|
|
|
NM_012431.3(SEMA3E):c.646C>T (p.His216Tyr)
|
|
|
|
NM_012431.3(SEMA3E):c.649G>A (p.Asp217Asn)
|
|
|
|
NM_012431.3(SEMA3E):c.651C>G (p.Asp217Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.657G>A (p.Glu219=)
|
|
|
|
NM_012431.3(SEMA3E):c.658C>T (p.Arg220Cys)
|
|
|
|
NM_012431.3(SEMA3E):c.670+11G>A
|
|
|
|
NM_012431.3(SEMA3E):c.670+20T>C
|
|
|
|
NM_012431.3(SEMA3E):c.670+8T>A
|
|
|
|
NM_012431.3(SEMA3E):c.670+8T>C
|
|
|
|
NM_012431.3(SEMA3E):c.671-16T>C
|
|
|
|
NM_012431.3(SEMA3E):c.671-19C>T
|
rs375797663
|
|
|
NM_012431.3(SEMA3E):c.671-1G>C
|
|
|
|
NM_012431.3(SEMA3E):c.671-2A>G
|
|
|
|
NM_012431.3(SEMA3E):c.671-5T>G
|
|
|
|
NM_012431.3(SEMA3E):c.671-7C>T
|
rs1255502131
|
|
|
NM_012431.3(SEMA3E):c.693C>T (p.Tyr231=)
|
rs2115649282
|
|
|
NM_012431.3(SEMA3E):c.6A>G (p.Ala2=)
|
|
|
|
NM_012431.3(SEMA3E):c.707A>G (p.Asn236Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.707A>T (p.Asn236Ile)
|
|
|
|
NM_012431.3(SEMA3E):c.708T>C (p.Asn236=)
|
|
|
|
NM_012431.3(SEMA3E):c.713A>G (p.Asp238Gly)
|
rs1554320716
|
|
|
NM_012431.3(SEMA3E):c.716G>C (p.Arg239Thr)
|
rs1295531534
|
|
|
NM_012431.3(SEMA3E):c.718G>T (p.Asp240Tyr)
|
rs777910966
|
|
|
NM_012431.3(SEMA3E):c.726C>T (p.Asn242=)
|
|
|
|
NM_012431.3(SEMA3E):c.732A>G (p.Val244=)
|
|
|
|
NM_012431.3(SEMA3E):c.733T>G (p.Tyr245Asp)
|
rs2115649014
|
|
|
NM_012431.3(SEMA3E):c.74C>G (p.Thr25Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.758T>C (p.Leu253Pro)
|
|
|
|
NM_012431.3(SEMA3E):c.760G>C (p.Glu254Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.780C>T (p.His260=)
|
rs533306215
|
|
|
NM_012431.3(SEMA3E):c.781G>A (p.Ala261Thr)
|
rs773917768
|
|
|
NM_012431.3(SEMA3E):c.781G>C (p.Ala261Pro)
|
|
|
|
NM_012431.3(SEMA3E):c.789C>T (p.Tyr263=)
|
rs1467250504
|
|
|
NM_012431.3(SEMA3E):c.793A>G (p.Arg265Gly)
|
rs2115648631
|
|
|
NM_012431.3(SEMA3E):c.795G>T (p.Arg265Ser)
|
rs2115648620
|
|
|
NM_012431.3(SEMA3E):c.799G>A (p.Gly267Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.802C>T (p.Arg268Ter)
|
|
|
|
NM_012431.3(SEMA3E):c.803G>A (p.Arg268Gln)
|
|
|
|
NM_012431.3(SEMA3E):c.807C>T (p.Leu269=)
|
|
|
|
NM_012431.3(SEMA3E):c.809G>C (p.Cys270Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.809_813+16del
|
|
|
|
NM_012431.3(SEMA3E):c.813+10TC[3]
|
|
|
|
NM_012431.3(SEMA3E):c.813+20_813+22del
|
|
|
|
NM_012431.3(SEMA3E):c.813+6G>A
|
|
|
|
NM_012431.3(SEMA3E):c.814-18C>G
|
rs1027659475
|
|
|
NM_012431.3(SEMA3E):c.814-20C>T
|
|
|
|
NM_012431.3(SEMA3E):c.814-9T>C
|
rs1562767558
|
|
|
NM_012431.3(SEMA3E):c.815A>G (p.Asn272Ser)
|
|
|
|
NM_012431.3(SEMA3E):c.816T>C (p.Asn272=)
|
|
|
|
NM_012431.3(SEMA3E):c.819T>C (p.Asp273=)
|
|
|
|
NM_012431.3(SEMA3E):c.841G>A (p.Val281Met)
|
rs2115643274
|
|
|
NM_012431.3(SEMA3E):c.847A>G (p.Lys283Glu)
|
|
|
|
NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)
|
|
|
|
NM_012431.3(SEMA3E):c.856A>G (p.Thr286Ala)
|
|
|
|
NM_012431.3(SEMA3E):c.864A>G (p.Leu288=)
|
rs1584226009
|
|
|
NM_012431.3(SEMA3E):c.867A>G (p.Lys289=)
|
rs2115643169
|
|
|
NM_012431.3(SEMA3E):c.868G>A (p.Ala290Thr)
|
|
|
|
NM_012431.3(SEMA3E):c.870G>T (p.Ala290=)
|
rs756513699
|
|
|
NM_012431.3(SEMA3E):c.886G>T (p.Val296Leu)
|
|
|
|
NM_012431.3(SEMA3E):c.891A>G (p.Pro297=)
|
|
|
|
NM_012431.3(SEMA3E):c.8C>A (p.Ser3Tyr)
|
|
|
|
NM_012431.3(SEMA3E):c.901G>A (p.Gly301Arg)
|
|
|
|
NM_012431.3(SEMA3E):c.906T>C (p.Ile302=)
|
|
|
|
NM_012431.3(SEMA3E):c.907G>A (p.Asp303Asn)
|
|
|
|
NM_012431.3(SEMA3E):c.907G>C (p.Asp303His)
|
|
|
|
NM_012431.3(SEMA3E):c.90C>T (p.His30=)
|
|
|
|
NM_012431.3(SEMA3E):c.928+10T>C
|
|
|
|
NM_012431.3(SEMA3E):c.928+12T>G
|
|
|
|
NM_012431.3(SEMA3E):c.928+5A>C
|
|
|
|
NM_012431.3(SEMA3E):c.930G>A (p.Glu310=)
|
rs2115641011
|
|
|
NM_012431.3(SEMA3E):c.931G>A (p.Asp311Asn)
|
rs1478459253
|
|
|
NM_012431.3(SEMA3E):c.933C>T (p.Asp311=)
|
|
|
|
NM_012431.3(SEMA3E):c.93C>T (p.Pro31=)
|
|
|
|
NM_012431.3(SEMA3E):c.955G>A (p.Asp319Asn)
|
rs1788311567
|
|
|
NM_012431.3(SEMA3E):c.956A>G (p.Asp319Gly)
|
|
|
|
NM_012431.3(SEMA3E):c.957T>G (p.Asp319Glu)
|
rs763045418
|
|
|
NM_012431.3(SEMA3E):c.960T>A (p.His320Gln)
|
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NM_012431.3(SEMA3E):c.975dup (p.Phe326fs)
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NM_012431.3(SEMA3E):c.988A>C (p.Asn330His)
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NM_012431.3(SEMA3E):c.995C>G (p.Thr332Ser)
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rs1554320452
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NM_012431.3(SEMA3E):c.998+12A>G
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NM_012431.3(SEMA3E):c.998+15C>T
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NM_012431.3(SEMA3E):c.998+9T>G
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NM_012431.3(SEMA3E):c.999-12dup
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rs1418610753
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NM_012431.3(SEMA3E):c.999-19T>C
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rs2115628543
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NM_012431.3(SEMA3E):c.9C>A (p.Ser3=)
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NM_016277.5(RAB23):c.105A>G (p.Thr35=)
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rs576194133
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NM_016277.5(RAB23):c.108A>G (p.Lys36=)
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NM_016277.5(RAB23):c.114C>T (p.Tyr38=)
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rs888229513
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NM_016277.5(RAB23):c.126T>C (p.Ile42=)
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NM_016277.5(RAB23):c.12A>G (p.Glu4=)
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NM_016277.5(RAB23):c.132T>G (p.Val44=)
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rs2128004147
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NM_016277.5(RAB23):c.135T>C (p.Asp45=)
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NM_016277.5(RAB23):c.139T>C (p.Leu47=)
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NM_016277.5(RAB23):c.142G>T (p.Glu48Ter)
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rs1765602287
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NM_016277.5(RAB23):c.14A>T (p.Asp5Val)
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NM_016277.5(RAB23):c.155+11G>A
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NM_016277.5(RAB23):c.155+11G>C
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NM_016277.5(RAB23):c.155+17T>C
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NM_016277.5(RAB23):c.155+8C>T
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rs2128004127
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NM_016277.5(RAB23):c.156-14A>G
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NM_016277.5(RAB23):c.156-1G>C
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rs373724159
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NM_016277.5(RAB23):c.156-20_156-17del
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NM_016277.5(RAB23):c.156-8T>C
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rs1593221684
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NM_016277.5(RAB23):c.156-8T>G
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NM_016277.5(RAB23):c.156-9T>C
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rs1380069219
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NM_016277.5(RAB23):c.156-9_156-8del
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NM_016277.5(RAB23):c.165T>C (p.Asp55=)
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NM_016277.5(RAB23):c.174_241+587delinsTTATCATTAA
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NM_016277.5(RAB23):c.177A>G (p.Arg59=)
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NM_016277.5(RAB23):c.17del (p.Met6fs)
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rs1765608519
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NM_016277.5(RAB23):c.186A>G (p.Leu62=)
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rs2128002898
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NM_016277.5(RAB23):c.207G>A (p.Glu69=)
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NM_016277.5(RAB23):c.21A>G (p.Glu7=)
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NM_016277.5(RAB23):c.234C>T (p.Tyr78=)
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rs2128002860
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NM_016277.5(RAB23):c.238C>T (p.Arg80Ter)
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NM_016277.5(RAB23):c.241+10A>G
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rs2128002855
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NM_016277.5(RAB23):c.241+16T>G
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NM_016277.5(RAB23):c.242-17_242-16insATTC
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NM_016277.5(RAB23):c.242-20G>C
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NM_016277.5(RAB23):c.242-31ATTG[3]
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NM_016277.5(RAB23):c.242-31ATTG[4]
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rs45542438
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NM_016277.5(RAB23):c.242-31ATTG[6]
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rs45542438
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NM_016277.5(RAB23):c.242-6T>C
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rs2127998723
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NM_016277.5(RAB23):c.242-7C>T
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NM_016277.5(RAB23):c.261C>G (p.Leu87=)
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rs764774207
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NM_016277.5(RAB23):c.261C>T (p.Leu87=)
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rs764774207
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NM_016277.5(RAB23):c.273C>G (p.Thr91=)
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NM_016277.5(RAB23):c.273C>T (p.Thr91=)
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NM_016277.5(RAB23):c.279T>C (p.Asp93=)
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NM_016277.5(RAB23):c.27C>T (p.Ala9=)
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NM_016277.5(RAB23):c.285A>G (p.Glu95=)
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rs2127998702
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NM_016277.5(RAB23):c.312A>G (p.Arg104=)
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NM_016277.5(RAB23):c.313_316del (p.Glu105fs)
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NM_016277.5(RAB23):c.317_322del (p.Lys106_Val108delinsIle)
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NM_016277.5(RAB23):c.321A>C (p.Val107=)
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NM_016277.5(RAB23):c.337G>A (p.Asp113Asn)
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rs748398827
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NM_016277.5(RAB23):c.33G>A (p.Lys11=)
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NM_016277.5(RAB23):c.357G>A (p.Val119=)
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NM_016277.5(RAB23):c.358_398+177delinsGGTGTACAGTTG
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rs2127998544
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NM_016277.5(RAB23):c.376C>T (p.Leu126=)
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NM_016277.5(RAB23):c.387T>C (p.Ser129=)
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rs1593210265
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NM_016277.5(RAB23):c.390T>C (p.Cys130=)
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rs2127998627
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NM_016277.5(RAB23):c.398+18G>A
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NM_016277.5(RAB23):c.398+9G>T
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rs376839366
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NM_016277.5(RAB23):c.399-15T>A
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NM_016277.5(RAB23):c.399-15dup
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NM_016277.5(RAB23):c.399-7T>C
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NM_016277.5(RAB23):c.399-9G>T
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rs1764963102
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NM_016277.5(RAB23):c.421A>T (p.Lys141Ter)
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rs2127998022
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NM_016277.5(RAB23):c.426del (p.Arg142fs)
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NM_016277.5(RAB23):c.429A>G (p.Leu143=)
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rs1186623990
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NM_016277.5(RAB23):c.430_431del (p.Lys144fs)
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NM_016277.5(RAB23):c.435A>G (p.Leu145=)
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rs2127998004
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NM_016277.5(RAB23):c.450A>G (p.Thr150=)
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NM_016277.5(RAB23):c.453A>C (p.Ser151=)
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NM_016277.5(RAB23):c.474G>A (p.Val158=)
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NM_016277.5(RAB23):c.481+16del
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NM_016277.5(RAB23):c.481+17G>A
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NM_016277.5(RAB23):c.481+18del
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NM_016277.5(RAB23):c.481+19A>G
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NM_016277.5(RAB23):c.481+1G>A
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NM_016277.5(RAB23):c.481+4A>C
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NM_016277.5(RAB23):c.481+7T>A
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rs2127997989
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NM_016277.5(RAB23):c.481+8A>C
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rs2127997988
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NM_016277.5(RAB23):c.482-10T>C
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NM_016277.5(RAB23):c.482-12T>G
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NM_016277.5(RAB23):c.482-14T>G
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NM_016277.5(RAB23):c.482-1_486del
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rs2127997697
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NM_016277.5(RAB23):c.482-20G>A
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NM_016277.5(RAB23):c.482-20del
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NM_016277.5(RAB23):c.482-7A>G
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rs1221714796
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NM_016277.5(RAB23):c.482-8T>G
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rs1303194537
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NM_016277.5(RAB23):c.48G>A (p.Gly16=)
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NM_016277.5(RAB23):c.48G>T (p.Gly16=)
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NM_016277.5(RAB23):c.495G>A (p.Leu165=)
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NM_016277.5(RAB23):c.4T>C (p.Leu2=)
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rs1593223928
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NM_016277.5(RAB23):c.507C>T (p.Tyr169=)
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rs1593207365
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NM_016277.5(RAB23):c.510T>C (p.Leu170=)
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rs1764929463
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NM_016277.5(RAB23):c.522dup (p.Gln175fs)
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NM_016277.5(RAB23):c.525A>G (p.Gln175=)
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NM_016277.5(RAB23):c.526C>T (p.Gln176Ter)
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rs2127997677
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NM_016277.5(RAB23):c.528A>G (p.Gln176=)
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NM_016277.5(RAB23):c.549A>G (p.Leu183=)
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rs2127997659
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NM_016277.5(RAB23):c.551C>T (p.Thr184Met)
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rs140295281
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NM_016277.5(RAB23):c.552G>C (p.Thr184=)
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rs201731610
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NM_016277.5(RAB23):c.552G>T (p.Thr184=)
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NM_016277.5(RAB23):c.574+20T>G
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NM_016277.5(RAB23):c.574+7A>G
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NM_016277.5(RAB23):c.575-12C>A
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NM_016277.5(RAB23):c.575-15C>T
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NM_016277.5(RAB23):c.575-5T>A
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NM_016277.5(RAB23):c.575-7T>A
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rs2127996399
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NM_016277.5(RAB23):c.575-8_575-5dup
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rs1429640163
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NM_016277.5(RAB23):c.576T>G (p.Gly192=)
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rs2127996390
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NM_016277.5(RAB23):c.57A>C (p.Ala19=)
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NM_016277.5(RAB23):c.590C>T (p.Ser197Phe)
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rs2127996379
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NM_016277.5(RAB23):c.5del (p.Leu2fs)
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rs1593223920
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NM_016277.5(RAB23):c.607G>A (p.Gly203Ser)
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NM_016277.5(RAB23):c.60T>G (p.Val20=)
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rs2128004188
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NM_016277.5(RAB23):c.642C>T (p.Val214=)
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rs1593204004
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NM_016277.5(RAB23):c.712T>G (p.Ter238Glu)
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rs751619487
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NM_016277.5(RAB23):c.82del (p.Arg28fs)
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rs2128004184
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NM_016277.5(RAB23):c.90C>T (p.Cys30=)
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NM_017780.4(CHD7):c.1004C>T (p.Thr335Ile)
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NM_017780.4(CHD7):c.1011T>G (p.Asn337Lys)
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NM_017780.4(CHD7):c.102A>G (p.Val34=)
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rs1170310957
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NM_017780.4(CHD7):c.1032A>G (p.Val344=)
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NM_017780.4(CHD7):c.1035A>C (p.Pro345=)
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NM_017780.4(CHD7):c.1037_1040del (p.Arg346fs)
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rs2150579872
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NM_017780.4(CHD7):c.1037_1046del (p.Arg346fs)
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NM_017780.4(CHD7):c.1049C>T (p.Ala350Val)
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rs2150579918
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NM_017780.4(CHD7):c.1054G>A (p.Gly352Arg)
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NM_017780.4(CHD7):c.1058del (p.Phe353fs)
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rs1060503184
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NM_017780.4(CHD7):c.1064C>T (p.Ser355Leu)
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NM_017780.4(CHD7):c.1068C>G (p.Asn356Lys)
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NM_017780.4(CHD7):c.1069A>G (p.Ser357Gly)
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rs1809095447
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NM_017780.4(CHD7):c.106C>T (p.Pro36Ser)
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NM_017780.4(CHD7):c.1070G>A (p.Ser357Asn)
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NM_017780.4(CHD7):c.1079G>C (p.Gly360Ala)
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NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter)
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rs727503860
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NM_017780.4(CHD7):c.1092G>A (p.Gln364=)
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rs1430411532
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NM_017780.4(CHD7):c.1095G>C (p.Gln365His)
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NM_017780.4(CHD7):c.1096C>T (p.Pro366Ser)
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NM_017780.4(CHD7):c.109A>G (p.Met37Val)
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rs1416709395
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NM_017780.4(CHD7):c.1107C>T (p.Pro369=)
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rs1375829546
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NM_017780.4(CHD7):c.1108A>G (p.Ser370Gly)
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rs1809098477
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NM_017780.4(CHD7):c.110T>C (p.Met37Thr)
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NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe)
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NM_017780.4(CHD7):c.1120A>G (p.Asn374Asp)
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NM_017780.4(CHD7):c.1126A>G (p.Met376Val)
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rs1317332713
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NM_017780.4(CHD7):c.1134A>T (p.Thr378=)
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NM_017780.4(CHD7):c.1135C>A (p.Gln379Lys)
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rs2150580201
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NM_017780.4(CHD7):c.1136A>G (p.Gln379Arg)
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NM_017780.4(CHD7):c.1159C>T (p.Gln387Ter)
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rs2150580244
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NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu)
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rs757050240
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NM_017780.4(CHD7):c.1170T>G (p.Tyr390Ter)
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rs554737227
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NM_017780.4(CHD7):c.1171G>T (p.Ala391Ser)
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NM_017780.4(CHD7):c.1172C>G (p.Ala391Gly)
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NM_017780.4(CHD7):c.1173C>G (p.Ala391=)
|
rs2150580271
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NM_017780.4(CHD7):c.1179A>T (p.Pro393=)
|
rs111238892
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NM_017780.4(CHD7):c.1180C>T (p.Pro394Ser)
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NM_017780.4(CHD7):c.1181C>T (p.Pro394Leu)
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NM_017780.4(CHD7):c.1186A>G (p.Met396Val)
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NM_017780.4(CHD7):c.1193C>A (p.Pro398His)
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rs1586250714
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NM_017780.4(CHD7):c.1195A>G (p.Met399Val)
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NM_017780.4(CHD7):c.1197G>A (p.Met399Ile)
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NM_017780.4(CHD7):c.1201G>A (p.Ala401Thr)
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NM_017780.4(CHD7):c.1204A>G (p.Met402Val)
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NM_017780.4(CHD7):c.1205T>C (p.Met402Thr)
|
rs775931738
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NM_017780.4(CHD7):c.1214C>T (p.Pro405Leu)
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NM_017780.4(CHD7):c.1221C>T (p.Gly407=)
|
rs1809105436
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NM_017780.4(CHD7):c.1222A>G (p.Thr408Ala)
|
rs760121832
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NM_017780.4(CHD7):c.1228C>T (p.Pro410Ser)
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NM_017780.4(CHD7):c.1233A>G (p.Pro411=)
|
rs1809107487
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NM_017780.4(CHD7):c.1238T>G (p.Val413Gly)
|
rs1021434443
|
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NM_017780.4(CHD7):c.1242G>T (p.Arg414Ser)
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NM_017780.4(CHD7):c.1243C>T (p.Pro415Ser)
|
rs1313265725
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NM_017780.4(CHD7):c.1247G>A (p.Gly416Glu)
|
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NM_017780.4(CHD7):c.1250_1259del (p.Ser417fs)
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NM_017780.4(CHD7):c.1254T>C (p.Ala418=)
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NM_017780.4(CHD7):c.1260A>C (p.Ile420=)
|
rs1332728138
|
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NM_017780.4(CHD7):c.1260A>G (p.Ile420Met)
|
rs1332728138
|
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NM_017780.4(CHD7):c.1263A>G (p.Pro421=)
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NM_017780.4(CHD7):c.1267del (p.Glu423fs)
|
rs1809110580
|
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NM_017780.4(CHD7):c.1271_1273del (p.Val424del)
|
rs1466152038
|
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NM_017780.4(CHD7):c.1277G>A (p.Ser426Asn)
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NM_017780.4(CHD7):c.1285A>C (p.Asn429His)
|
rs771200821
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NM_017780.4(CHD7):c.1285A>G (p.Asn429Asp)
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NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter)
|
rs1586251038
|
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NM_017780.4(CHD7):c.1304C>T (p.Pro435Leu)
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NM_017780.4(CHD7):c.1311C>T (p.His437=)
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NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter)
|
rs1554581657
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NM_017780.4(CHD7):c.1314G>T (p.Gln438His)
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NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala)
|
rs772369092
|
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NM_017780.4(CHD7):c.1315C>T (p.Pro439Ser)
|
rs772369092
|
|
|
NM_017780.4(CHD7):c.1321G>T (p.Gly441Cys)
|
|
|
|
NM_017780.4(CHD7):c.1328T>C (p.Met443Thr)
|
|
|
|
NM_017780.4(CHD7):c.1337G>A (p.Gly446Glu)
|
|
|
|
NM_017780.4(CHD7):c.1348A>G (p.Met450Val)
|
|
|
|
NM_017780.4(CHD7):c.1349T>C (p.Met450Thr)
|
|
|
|
NM_017780.4(CHD7):c.1349T>G (p.Met450Arg)
|
|
|
|
NM_017780.4(CHD7):c.1356C>T (p.Pro452=)
|
|
|
|
NM_017780.4(CHD7):c.1365G>A (p.Met455Ile)
|
|
|
|
NM_017780.4(CHD7):c.1365dup (p.Gln456fs)
|
|
|
|
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter)
|
rs727503861
|
|
|
NM_017780.4(CHD7):c.1375C>G (p.Arg459Gly)
|
|
|
|
NM_017780.4(CHD7):c.1376G>A (p.Arg459His)
|
|
|
|
NM_017780.4(CHD7):c.1390A>T (p.Met464Leu)
|
|
|
|
NM_017780.4(CHD7):c.1392G>T (p.Met464Ile)
|
rs780392912
|
|
|
NM_017780.4(CHD7):c.1394C>T (p.Ser465Phe)
|
|
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
|
NM_017780.4(CHD7):c.1417G>A (p.Gly473Arg)
|
|
|
|
NM_017780.4(CHD7):c.1417G>T (p.Gly473Trp)
|
|
|
|
NM_017780.4(CHD7):c.141T>C (p.Phe47=)
|
rs2150577522
|
|
|
NM_017780.4(CHD7):c.1423A>T (p.Met475Leu)
|
rs773039925
|
|
|
NM_017780.4(CHD7):c.1428G>A (p.Arg476=)
|
|
|
|
NM_017780.4(CHD7):c.1429C>T (p.Pro477Ser)
|
rs774211699
|
|
|
NM_017780.4(CHD7):c.1439G>T (p.Cys480Phe)
|
|
|
|
NM_017780.4(CHD7):c.1444G>A (p.Gly482Ser)
|
|
|
|
NM_017780.4(CHD7):c.1445G>A (p.Gly482Asp)
|
rs911422083
|
|
|
NM_017780.4(CHD7):c.1446dup (p.Val483fs)
|
rs2150581008
|
|
|
NM_017780.4(CHD7):c.1449T>G (p.Val483=)
|
|
|
|
NM_017780.4(CHD7):c.1451G>T (p.Gly484Val)
|
|
|
|
NM_017780.4(CHD7):c.1454T>C (p.Leu485Pro)
|
rs1313748646
|
|
|
NM_017780.4(CHD7):c.1466A>C (p.Gln489Pro)
|
|
|
|
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn)
|
rs1383452692
|
|
|
NM_017780.4(CHD7):c.1475A>G (p.Gln492Arg)
|
|
|
|
NM_017780.4(CHD7):c.1476_1520del (p.Gln492_Ser507delinsHis)
|
|
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
|
NM_017780.4(CHD7):c.1488dup (p.Pro497fs)
|
rs786204200
|
|
|
NM_017780.4(CHD7):c.1489C>A (p.Pro497Thr)
|
|
|
|
NM_017780.4(CHD7):c.1496_1497delinsGC (p.Gln499Arg)
|
rs1809129557
|
|
|
NM_017780.4(CHD7):c.1497A>G (p.Gln499=)
|
|
|
|
NM_017780.4(CHD7):c.1499A>G (p.Gln500Arg)
|
rs1465792260
|
|
|
NM_017780.4(CHD7):c.1501C>T (p.His501Tyr)
|
|
|
|
NM_017780.4(CHD7):c.1505del (p.Pro502fs)
|
rs863224517
|
|
|
NM_017780.4(CHD7):c.1509T>C (p.Gly503=)
|
|
|
|
NM_017780.4(CHD7):c.1510C>G (p.Gln504Glu)
|
|
|
|
NM_017780.4(CHD7):c.1518A>G (p.Pro506=)
|
|
|
|
NM_017780.4(CHD7):c.1524_1551del (p.Gln509fs)
|
|
|
|
NM_017780.4(CHD7):c.1525C>T (p.Gln509Ter)
|
|
|
|
NM_017780.4(CHD7):c.152A>G (p.Gln51Arg)
|
rs1809015487
|
|
|
NM_017780.4(CHD7):c.1534C>G (p.Pro512Ala)
|
rs748635676
|
|
|
NM_017780.4(CHD7):c.1537A>G (p.Thr513Ala)
|
rs957224882
|
|
|
NM_017780.4(CHD7):c.1542TCC[1] (p.Pro516del)
|
rs746859882
|
|
|
NM_017780.4(CHD7):c.1543C>A (p.Pro515Thr)
|
rs1210884047
|
|
|
NM_017780.4(CHD7):c.1543C>G (p.Pro515Ala)
|
|
|
|
NM_017780.4(CHD7):c.1543C>T (p.Pro515Ser)
|
rs1210884047
|
|
|
NM_017780.4(CHD7):c.1549_1553del (p.Leu517fs)
|
|
|
|
NM_017780.4(CHD7):c.1554G>C (p.Gln518His)
|
rs369284507
|
|
|
NM_017780.4(CHD7):c.1554G>T (p.Gln518His)
|
rs369284507
|
|
|
NM_017780.4(CHD7):c.1555C>T (p.Pro519Ser)
|
|
|
|
NM_017780.4(CHD7):c.1556C>T (p.Pro519Leu)
|
|
|
|
NM_017780.4(CHD7):c.155C>G (p.Pro52Arg)
|
|
|
|
NM_017780.4(CHD7):c.1561C>G (p.Pro521Ala)
|
|
|
|
NM_017780.4(CHD7):c.1563G>C (p.Pro521=)
|
|
|
|
NM_017780.4(CHD7):c.1570C>T (p.His524Tyr)
|
|
|
|
NM_017780.4(CHD7):c.1577_1579dup (p.Ser527Ter)
|
|
|
|
NM_017780.4(CHD7):c.1581T>C (p.Ser527=)
|
|
|
|
NM_017780.4(CHD7):c.1587T>G (p.Pro529=)
|
|
|
|
NM_017780.4(CHD7):c.1589_1597del (p.Pro530_Pro532del)
|
|
|
|
NM_017780.4(CHD7):c.1595del (p.Pro532fs)
|
|
|
|
NM_017780.4(CHD7):c.1604A>G (p.Gln535Arg)
|
|
|
|
NM_017780.4(CHD7):c.1604A>T (p.Gln535Leu)
|
rs1809137397
|
|
|
NM_017780.4(CHD7):c.160C>G (p.Leu54Val)
|
|
|
|
NM_017780.4(CHD7):c.1621C>T (p.His541Tyr)
|
|
|
|
NM_017780.4(CHD7):c.1632C>G (p.Pro544=)
|
rs45536935
|
|
|
NM_017780.4(CHD7):c.1633C>T (p.Gln545Ter)
|
|
|
|
NM_017780.4(CHD7):c.1639A>C (p.Thr547Pro)
|
rs1586252204
|
|
|
NM_017780.4(CHD7):c.1653G>A (p.Val551=)
|
|
|
|
NM_017780.4(CHD7):c.1665+10C>G
|
|
|
|
NM_017780.4(CHD7):c.1665+14G>C
|
|
|
|
NM_017780.4(CHD7):c.1665+16G>A
|
rs2150581557
|
|
|
NM_017780.4(CHD7):c.1665+20A>C
|
|
|
|
NM_017780.4(CHD7):c.1665+8G>T
|
|
|
|
NM_017780.4(CHD7):c.1666-10T>C
|
|
|
|
NM_017780.4(CHD7):c.1666-16T>C
|
|
|
|
NM_017780.4(CHD7):c.1666-20T>C
|
|
|
|
NM_017780.4(CHD7):c.1666-5C>A
|
|
|
|
NM_017780.4(CHD7):c.1671C>T (p.Ser557=)
|
|
|
|
NM_017780.4(CHD7):c.1674G>A (p.Pro558=)
|
|
|
|
NM_017780.4(CHD7):c.1674G>C (p.Pro558=)
|
|
|
|
NM_017780.4(CHD7):c.1674G>T (p.Pro558=)
|
rs763024481
|
|
|
NM_017780.4(CHD7):c.1678G>A (p.Glu560Lys)
|
|
|
|
NM_017780.4(CHD7):c.1698A>G (p.Pro566=)
|
rs727503862
|
|
|
NM_017780.4(CHD7):c.1705del (p.Asp569fs)
|
|
|
|
NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu)
|
rs1694045574
|
|
|
NM_017780.4(CHD7):c.1708A>G (p.Met570Val)
|
|
|
|
NM_017780.4(CHD7):c.1716G>C (p.Gln572His)
|
|
|
|
NM_017780.4(CHD7):c.1717G>T (p.Val573Phe)
|
|
|
|
NM_017780.4(CHD7):c.171T>C (p.Pro57=)
|
|
|
|
NM_017780.4(CHD7):c.1721G>A (p.Ser574Asn)
|
|
|
|
NM_017780.4(CHD7):c.1722T>G (p.Ser574Arg)
|
|
|
|
NM_017780.4(CHD7):c.1724G>C (p.Gly575Ala)
|
|
|
|
NM_017780.4(CHD7):c.1725A>G (p.Gly575=)
|
rs2150669175
|
|
|
NM_017780.4(CHD7):c.1728G>A (p.Pro576=)
|
rs754836392
|
|
|
NM_017780.4(CHD7):c.1735C>A (p.Gln579Lys)
|
rs780953224
|
|
|
NM_017780.4(CHD7):c.1735C>G (p.Gln579Glu)
|
|
|
|
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter)
|
rs780953224
|
|
|
NM_017780.4(CHD7):c.1740A>G (p.Leu580=)
|
|
|
|
NM_017780.4(CHD7):c.1751A>T (p.Asp584Val)
|
rs1811198841
|
|
|
NM_017780.4(CHD7):c.1759C>T (p.Leu587=)
|
|
|
|
NM_017780.4(CHD7):c.1761G>T (p.Leu587=)
|
|
|
|
NM_017780.4(CHD7):c.1762C>T (p.Pro588Ser)
|
|
|
|
NM_017780.4(CHD7):c.1774C>A (p.Gln592Lys)
|
rs2150669323
|
|
|
NM_017780.4(CHD7):c.1774_1778del (p.Gln592fs)
|
rs2150669316
|
|
|
NM_017780.4(CHD7):c.1780C>T (p.Pro594Ser)
|
|
|
|
NM_017780.4(CHD7):c.1784A>T (p.Gln595Leu)
|
rs2150669341
|
|
|
NM_017780.4(CHD7):c.1785A>G (p.Gln595=)
|
|
|
|
NM_017780.4(CHD7):c.1791GAA[2] (p.Lys602del)
|
rs757119372
|
|
|
NM_017780.4(CHD7):c.1794del (p.Lys599fs)
|
|
|
|
NM_017780.4(CHD7):c.1802A>G (p.Lys601Arg)
|
rs1467028739
|
|
|
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs)
|
rs1554588671
|
|
|
NM_017780.4(CHD7):c.1808del (p.Asn603fs)
|
|
|
|
NM_017780.4(CHD7):c.1811A>G (p.Asn604Ser)
|
rs1811204503
|
|
|
NM_017780.4(CHD7):c.1812C>T (p.Asn604=)
|
|
|
|
NM_017780.4(CHD7):c.1819G>A (p.Val607Ile)
|
|
|
|
NM_017780.4(CHD7):c.181C>G (p.Gln61Glu)
|
|
|
|
NM_017780.4(CHD7):c.1835G>A (p.Ser612Asn)
|
rs1811206668
|
|
|
NM_017780.4(CHD7):c.1840G>T (p.Gly614Cys)
|
|
|
|
NM_017780.4(CHD7):c.1851A>C (p.Lys617Asn)
|
|
|
|
NM_017780.4(CHD7):c.1853A>G (p.Asp618Gly)
|
|
|
|
NM_017780.4(CHD7):c.1861C>T (p.Pro621Ser)
|
|
|
|
NM_017780.4(CHD7):c.1862C>A (p.Pro621His)
|
rs1229088933
|
|
|
NM_017780.4(CHD7):c.1862dup (p.Gly622fs)
|
|
|
|
NM_017780.4(CHD7):c.1865G>C (p.Gly622Ala)
|
|
|
|
NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp)
|
|
|
|
NM_017780.4(CHD7):c.1870G>A (p.Val624Ile)
|
|
|
|
NM_017780.4(CHD7):c.1871del (p.Val624fs)
|
rs2150669574
|
|
|
NM_017780.4(CHD7):c.1879C>A (p.Gln627Lys)
|
|
|
|
NM_017780.4(CHD7):c.1886T>C (p.Leu629Pro)
|
|
|
|
NM_017780.4(CHD7):c.1889A>T (p.Asn630Ile)
|
|
|
|
NM_017780.4(CHD7):c.18G>T (p.Met6Ile)
|
|
|
|
NM_017780.4(CHD7):c.1903G>C (p.Asp635His)
|
|
|
|
NM_017780.4(CHD7):c.1918_1919delinsTT (p.Glu640Leu)
|
|
|
|
NM_017780.4(CHD7):c.1925del (p.Lys642fs)
|
rs1554588712
|
|
|
NM_017780.4(CHD7):c.1925dup (p.Lys643fs)
|
|
|
|
NM_017780.4(CHD7):c.1928A>C (p.Lys643Thr)
|
|
|
|
NM_017780.4(CHD7):c.1936dup (p.Arg646fs)
|
rs2150669783
|
|
|
NM_017780.4(CHD7):c.1944G>A (p.Lys648=)
|
|
|
|
NM_017780.4(CHD7):c.1944G>C (p.Lys648Asn)
|
|
|
|
NM_017780.4(CHD7):c.1945G>A (p.Ala649Thr)
|
rs1811215623
|
|
|
NM_017780.4(CHD7):c.1947A>C (p.Ala649=)
|
|
|
|
NM_017780.4(CHD7):c.1948A>G (p.Lys650Glu)
|
|
|
|
NM_017780.4(CHD7):c.1952A>C (p.Lys651Thr)
|
|
|
|
NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs)
|
rs1563595101
|
|
|
NM_017780.4(CHD7):c.1953dup (p.Asp652fs)
|
rs2150669843
|
|
|
NM_017780.4(CHD7):c.1956C>A (p.Asp652Glu)
|
|
|
|
NM_017780.4(CHD7):c.1957C>G (p.Pro653Ala)
|
|
|
|
NM_017780.4(CHD7):c.1957C>T (p.Pro653Ser)
|
|
|
|
NM_017780.4(CHD7):c.1958C>G (p.Pro653Arg)
|
rs200536932
|
|
|
NM_017780.4(CHD7):c.1962G>C (p.Lys654Asn)
|
|
|
|
NM_017780.4(CHD7):c.1971A>G (p.Lys657=)
|
|
|
|
NM_017780.4(CHD7):c.1977del (p.Lys660fs)
|
rs2150669944
|
|
|
NM_017780.4(CHD7):c.1980G>A (p.Lys660=)
|
rs2150669967
|
|
|
NM_017780.4(CHD7):c.1984_1985insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAACCCAAGGAGA (p.Lys662fs)
|
rs2150669923
|
|
|
NM_017780.4(CHD7):c.1996A>G (p.Lys666Glu)
|
|
|
|
NM_017780.4(CHD7):c.2002C>A (p.Pro668Thr)
|
|
|
|
NM_017780.4(CHD7):c.2004C>T (p.Pro668=)
|
|
|
|
NM_017780.4(CHD7):c.2005A>G (p.Lys669Glu)
|
rs2150670002
|
|
|
NM_017780.4(CHD7):c.2009C>A (p.Thr670Asn)
|
|
|
|
NM_017780.4(CHD7):c.2009C>G (p.Thr670Ser)
|
|
|
|
NM_017780.4(CHD7):c.2011C>T (p.Pro671Ser)
|
|
|
|
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu)
|
rs370588681
|
|
|
NM_017780.4(CHD7):c.2017G>A (p.Ala673Thr)
|
|
|
|
NM_017780.4(CHD7):c.201A>C (p.Thr67=)
|
|
|
|
NM_017780.4(CHD7):c.2022T>C (p.Pro674=)
|
|
|
|
NM_017780.4(CHD7):c.2037G>A (p.Glu679=)
|
|
|
|
NM_017780.4(CHD7):c.2041A>G (p.Lys681Glu)
|
|
|
|
NM_017780.4(CHD7):c.2048A>G (p.Lys683Arg)
|
|
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
|
NM_017780.4(CHD7):c.2060C>G (p.Thr687Ser)
|
|
|
|
NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln)
|
rs755898600
|
|
|
NM_017780.4(CHD7):c.2075C>G (p.Pro692Arg)
|
|
|
|
NM_017780.4(CHD7):c.2076C>T (p.Pro692=)
|
|
|
|
NM_017780.4(CHD7):c.207T>G (p.Phe69Leu)
|
rs1809021019
|
|
|
NM_017780.4(CHD7):c.2090del (p.Lys697fs)
|
rs1563595385
|
|
|
NM_017780.4(CHD7):c.2096+1del
|
rs2150670337
|
|
|
NM_017780.4(CHD7):c.2096+21dup
|
rs111577577
|
|
|
NM_017780.4(CHD7):c.2096+23_2096+25del
|
rs1811226936
|
|
|
NM_017780.4(CHD7):c.2096+8G>A
|
|
|
|
NM_017780.4(CHD7):c.2097-14A>G
|
|
|
|
NM_017780.4(CHD7):c.2097-18A>G
|
|
|
|
NM_017780.4(CHD7):c.2097-19G>A
|
rs559713378
|
|
|
NM_017780.4(CHD7):c.2097-1G>C
|
rs1060503182
|
|
|
NM_017780.4(CHD7):c.2097-2A>G
|
rs2150697457
|
|
|
NM_017780.4(CHD7):c.2097-5dup
|
|
|
|
NM_017780.4(CHD7):c.209A>G (p.Asp70Gly)
|
|
|
|
NM_017780.4(CHD7):c.2107C>A (p.Pro703Thr)
|
|
|
|
NM_017780.4(CHD7):c.2117A>T (p.Glu706Val)
|
|
|
|
NM_017780.4(CHD7):c.2118A>G (p.Glu706=)
|
rs2150697530
|
|
|
NM_017780.4(CHD7):c.2129del (p.Ala709_Leu710insTer)
|
rs2150697555
|
|
|
NM_017780.4(CHD7):c.2130G>A (p.Leu710=)
|
|
|
|
NM_017780.4(CHD7):c.2143A>G (p.Asn715Asp)
|
|
|
|
NM_017780.4(CHD7):c.2147A>C (p.Lys716Thr)
|
|
|
|
NM_017780.4(CHD7):c.2147_2148delinsTT (p.Lys716Ile)
|
rs1563606900
|
|
|
NM_017780.4(CHD7):c.2162G>A (p.Gly721Asp)
|
|
|
|
NM_017780.4(CHD7):c.2175A>C (p.Ser725=)
|
|
|
|
NM_017780.4(CHD7):c.2182G>A (p.Asp728Asn)
|
|
|
|
NM_017780.4(CHD7):c.2183A>G (p.Asp728Gly)
|
rs749679283
|
|
|
NM_017780.4(CHD7):c.2186A>G (p.Lys729Arg)
|
|
|
|
NM_017780.4(CHD7):c.2187A>G (p.Lys729=)
|
rs1405754910
|
|
|
NM_017780.4(CHD7):c.2189dup (p.Pro731fs)
|
rs2150697787
|
|
|
NM_017780.4(CHD7):c.2195del (p.Pro732fs)
|
rs1586341138
|
|
|
NM_017780.4(CHD7):c.2195dup (p.Pro733fs)
|
rs1586341138
|
|
|
NM_017780.4(CHD7):c.2196A>G (p.Pro732=)
|
|
|
|
NM_017780.4(CHD7):c.2196dup (p.Pro733fs)
|
rs2150697832
|
|
|
NM_017780.4(CHD7):c.2198C>T (p.Pro733Leu)
|
|
|
|
NM_017780.4(CHD7):c.2199A>G (p.Pro733=)
|
|
|
|
NM_017780.4(CHD7):c.2203CCT[2] (p.Pro737del)
|
rs748363597
|
|
|
NM_017780.4(CHD7):c.2209C>T (p.Pro737Ser)
|
|
|
|
NM_017780.4(CHD7):c.2218G>A (p.Asp740Asn)
|
rs776372236
|
|
|
NM_017780.4(CHD7):c.2220T>A (p.Asp740Glu)
|
|
|
|
NM_017780.4(CHD7):c.2224G>A (p.Asp742Asn)
|
|
|
|
NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs)
|
rs1563607193
|
|
|
NM_017780.4(CHD7):c.2232T>G (p.Gly744=)
|
|
|
|
NM_017780.4(CHD7):c.2233G>A (p.Val745Ile)
|
rs1811957623
|
|
|
NM_017780.4(CHD7):c.2238+1G>A
|
rs1811957737
|
|
|
NM_017780.4(CHD7):c.2238+7C>T
|
|
|
|
NM_017780.4(CHD7):c.2239-3T>C
|
|
|
|
NM_017780.4(CHD7):c.2239-4T>G
|
|
|
|
NM_017780.4(CHD7):c.2245C>T (p.Arg749Trp)
|
rs1320501538
|
|
|
NM_017780.4(CHD7):c.2246G>A (p.Arg749Gln)
|
rs942764555
|
|
|
NM_017780.4(CHD7):c.2252G>A (p.Ser751Asn)
|
|
|
|
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter)
|
rs1586350727
|
|
|
NM_017780.4(CHD7):c.2260G>C (p.Val754Leu)
|
|
|
|
NM_017780.4(CHD7):c.2265G>A (p.Lys755=)
|
|
|
|
NM_017780.4(CHD7):c.2270A>G (p.Lys757Arg)
|
|
|
|
NM_017780.4(CHD7):c.2272C>T (p.Arg758Cys)
|
|
|
|
NM_017780.4(CHD7):c.2283A>G (p.Glu761=)
|
rs1372243680
|
|
|
NM_017780.4(CHD7):c.2295C>G (p.Phe765Leu)
|
|
|
|
NM_017780.4(CHD7):c.2295del (p.Phe765fs)
|
rs1586350854
|
|
|
NM_017780.4(CHD7):c.2298G>T (p.Lys766Asn)
|
|
|
|
NM_017780.4(CHD7):c.2308G>C (p.Glu770Gln)
|
rs2150708888
|
|
|
NM_017780.4(CHD7):c.2309AGG[1] (p.Glu771del)
|
rs761153051
|
|
|
NM_017780.4(CHD7):c.2321dup (p.Asp774fs)
|
rs2150708918
|
|
|
NM_017780.4(CHD7):c.2327A>G (p.Asp776Gly)
|
|
|
|
NM_017780.4(CHD7):c.232C>T (p.Gln78Ter)
|
rs2150577671
|
|
|
NM_017780.4(CHD7):c.2330C>T (p.Ala777Val)
|
|
|
|
NM_017780.4(CHD7):c.2345C>G (p.Ser782Cys)
|
rs1812251287
|
|
|
NM_017780.4(CHD7):c.2347C>G (p.Pro783Ala)
|
rs373873996
|
|
|
NM_017780.4(CHD7):c.2349C>T (p.Pro783=)
|
|
|
|
NM_017780.4(CHD7):c.235A>G (p.Lys79Glu)
|
rs2150577685
|
|
|
NM_017780.4(CHD7):c.2360C>T (p.Ser787Phe)
|
rs1331824961
|
|
|
NM_017780.4(CHD7):c.2373G>T (p.Gln791His)
|
|
|
|
NM_017780.4(CHD7):c.2376+17T>C
|
|
|
|
NM_017780.4(CHD7):c.2376+19G>A
|
|
|
|
NM_017780.4(CHD7):c.2376+4A>G
|
rs864622519
|
|
|
NM_017780.4(CHD7):c.2376+8C>A
|
rs1331200503
|
|
|
NM_017780.4(CHD7):c.2376+8C>T
|
|
|
|
NM_017780.4(CHD7):c.2376+9C>T
|
rs2150709106
|
|
|
NM_017780.4(CHD7):c.2377-16A>G
|
|
|
|
NM_017780.4(CHD7):c.2377-17C>T
|
rs1586352662
|
|
|
NM_017780.4(CHD7):c.2377-1G>A
|
rs2150711063
|
|
|
NM_017780.4(CHD7):c.2377-3dup
|
rs752271550
|
|
|
NM_017780.4(CHD7):c.2377-8T>C
|
|
|
|
NM_017780.4(CHD7):c.2377-8T>G
|
rs777518407
|
|
|
NM_017780.4(CHD7):c.2377-9T>C
|
|
|
|
NM_017780.4(CHD7):c.2383_2384del (p.Ser794_Val795insTer)
|
rs1064793432
|
|
|
NM_017780.4(CHD7):c.238A>T (p.Met80Leu)
|
|
|
|
NM_017780.4(CHD7):c.2391A>G (p.Ala797=)
|
|
|
|
NM_017780.4(CHD7):c.2396G>T (p.Gly799Val)
|
rs1167408520
|
|
|
NM_017780.4(CHD7):c.2399C>T (p.Pro800Leu)
|
|
|
|
NM_017780.4(CHD7):c.239T>G (p.Met80Arg)
|
|
|
|
NM_017780.4(CHD7):c.2400A>C (p.Pro800=)
|
rs1586352829
|
|
|
NM_017780.4(CHD7):c.2423G>A (p.Ser808Asn)
|
|
|
|
NM_017780.4(CHD7):c.2425C>T (p.Arg809Cys)
|
rs2150711196
|
|
|
NM_017780.4(CHD7):c.2426G>A (p.Arg809His)
|
rs1313215076
|
|
|
NM_017780.4(CHD7):c.2426G>C (p.Arg809Pro)
|
rs1313215076
|
|
|
NM_017780.4(CHD7):c.2432T>C (p.Val811Ala)
|
|
|
|
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter)
|
rs1554593049
|
|
|
NM_017780.4(CHD7):c.2442+10A>G
|
|
|
|
NM_017780.4(CHD7):c.2442+11T>C
|
|
|
|
NM_017780.4(CHD7):c.2442+12del
|
|
|
|
NM_017780.4(CHD7):c.2442+16G>A
|
|
|
|
NM_017780.4(CHD7):c.2442+18C>T
|
|
|
|
NM_017780.4(CHD7):c.2442+7G>A
|
|
|
|
NM_017780.4(CHD7):c.2443-11T>G
|
rs2150723881
|
|
|
NM_017780.4(CHD7):c.2443-8T>G
|
|
|
|
NM_017780.4(CHD7):c.2448A>G (p.Glu816=)
|
|
|
|
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs)
|
rs1563618176
|
|
|
NM_017780.4(CHD7):c.2467A>G (p.Ile823Val)
|
|
|
|
NM_017780.4(CHD7):c.2468T>C (p.Ile823Thr)
|
rs1812629374
|
|
|
NM_017780.4(CHD7):c.2470G>A (p.Glu824Lys)
|
|
|
|
NM_017780.4(CHD7):c.2480A>G (p.Tyr827Cys)
|
|
|
|
NM_017780.4(CHD7):c.2492A>G (p.Lys831Arg)
|
|
|
|
NM_017780.4(CHD7):c.2495del (p.Asn832fs)
|
rs2150723965
|
|
|
NM_017780.4(CHD7):c.2496C>T (p.Asn832=)
|
rs1455553468
|
|
|
NM_017780.4(CHD7):c.2498+14G>C
|
|
|
|
NM_017780.4(CHD7):c.2498+15del
|
|
|
|
NM_017780.4(CHD7):c.2498+3A>G
|
rs2150723994
|
|
|
NM_017780.4(CHD7):c.2498+5G>A
|
|
|
|
NM_017780.4(CHD7):c.2499-10G>T
|
rs1351318078
|
|
|
NM_017780.4(CHD7):c.2499-17T>C
|
|
|
|
NM_017780.4(CHD7):c.2499-18A>G
|
|
|
|
NM_017780.4(CHD7):c.2499-19T>C
|
|
|
|
NM_017780.4(CHD7):c.2499-19del
|
rs757104700
|
|
|
NM_017780.4(CHD7):c.2503dup (p.Tyr835fs)
|
|
|
|
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)
|
rs886040982
|
|
|
NM_017780.4(CHD7):c.2510A>G (p.His837Arg)
|
|
|
|
NM_017780.4(CHD7):c.2516A>G (p.Gln839Arg)
|
rs2150738931
|
|
|
NM_017780.4(CHD7):c.251A>G (p.Asp84Gly)
|
|
|
|
NM_017780.4(CHD7):c.2521G>A (p.Ala841Thr)
|
|
|
|
NM_017780.4(CHD7):c.2540A>G (p.Glu847Gly)
|
|
|
|
NM_017780.4(CHD7):c.2546A>G (p.Asp849Gly)
|
|
|
|
NM_017780.4(CHD7):c.2558A>T (p.Gln853Leu)
|
|
|
|
NM_017780.4(CHD7):c.2568T>A (p.Ile856=)
|
|
|
|
NM_017780.4(CHD7):c.2568del (p.Lys857fs)
|
rs1060503181
|
|
|
NM_017780.4(CHD7):c.2569A>T (p.Lys857Ter)
|
|
|
|
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)
|
rs1563625351
|
|
|
NM_017780.4(CHD7):c.257C>A (p.Pro86Gln)
|
rs1355349547
|
|
|
NM_017780.4(CHD7):c.257C>T (p.Pro86Leu)
|
|
|
|
NM_017780.4(CHD7):c.2581G>A (p.Ala861Thr)
|
|
|
|
NM_017780.4(CHD7):c.2592C>T (p.Gly864=)
|
|
|
|
NM_017780.4(CHD7):c.2600A>G (p.Lys867Arg)
|
|
|
|
NM_017780.4(CHD7):c.2613+11C>T
|
|
|
|
NM_017780.4(CHD7):c.2613+14G>C
|
|
|
|
NM_017780.4(CHD7):c.2613+18A>G
|
|
|
|
NM_017780.4(CHD7):c.2613+19C>A
|
|
|
|
NM_017780.4(CHD7):c.2613+1G>T
|
rs587783432
|
|
|
NM_017780.4(CHD7):c.2613+1del
|
rs1060503189
|
|
|
NM_017780.4(CHD7):c.2613+23del
|
|
|
|
NM_017780.4(CHD7):c.2613+8dup
|
rs2150739145
|
|
|
NM_017780.4(CHD7):c.2613+9_2613+10dup
|
|
|
|
NM_017780.4(CHD7):c.2614-11dup
|
|
|
|
NM_017780.4(CHD7):c.2614-14T>C
|
|
|
|
NM_017780.4(CHD7):c.2614-6G>A
|
|
|
|
NM_017780.4(CHD7):c.2614-9T>C
|
rs2150745067
|
|
|
NM_017780.4(CHD7):c.2615T>C (p.Ile872Thr)
|
|
|
|
NM_017780.4(CHD7):c.2619G>A (p.Glu873=)
|
|
|
|
NM_017780.4(CHD7):c.2625G>A (p.Glu875=)
|
rs2150745168
|
|
|
NM_017780.4(CHD7):c.2626C>A (p.Leu876Ile)
|
|
|
|
NM_017780.4(CHD7):c.2626C>T (p.Leu876Phe)
|
rs368156500
|
|
|
NM_017780.4(CHD7):c.262A>G (p.Arg88Gly)
|
rs1015190633
|
|
|
NM_017780.4(CHD7):c.2639A>T (p.Asp880Val)
|
|
|
|
NM_017780.4(CHD7):c.2643T>A (p.Tyr881Ter)
|
|
|
|
NM_017780.4(CHD7):c.2654A>G (p.Asp885Gly)
|
|
|
|
NM_017780.4(CHD7):c.2662A>G (p.Met888Val)
|
|
|
|
NM_017780.4(CHD7):c.2670T>C (p.Phe890=)
|
|
|
|
NM_017780.4(CHD7):c.2672C>A (p.Ala891Glu)
|
|
|
|
NM_017780.4(CHD7):c.2674C>T (p.Arg892Cys)
|
rs768961973
|
|
|
NM_017780.4(CHD7):c.2677A>G (p.Ser893Gly)
|
|
|
|
NM_017780.4(CHD7):c.2681C>A (p.Thr894Lys)
|
|
|
|
NM_017780.4(CHD7):c.2684del (p.Asp895fs)
|
|
|
|
NM_017780.4(CHD7):c.2697+12T>C
|
|
|
|
NM_017780.4(CHD7):c.2697+7G>A
|
|
|
|
NM_017780.4(CHD7):c.2698-19T>G
|
|
|
|
NM_017780.4(CHD7):c.2698-1G>T
|
|
|
|
NM_017780.4(CHD7):c.2698-9C>G
|
|
|
|
NM_017780.4(CHD7):c.2698-9C>T
|
|
|
|
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer)
|
rs1586389286
|
|
|
NM_017780.4(CHD7):c.2707_2710del (p.His903fs)
|
rs2150748709
|
|
|
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs)
|
rs1586389310
|
|
|
NM_017780.4(CHD7):c.2714T>C (p.Leu905Pro)
|
|
|
|
NM_017780.4(CHD7):c.2723G>A (p.Trp908Ter)
|
|
|
|
NM_017780.4(CHD7):c.2726_2728del (p.Cys909del)
|
rs1554597381
|
|
|
NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter)
|
rs1804054410
|
|
|
NM_017780.4(CHD7):c.2730A>G (p.Ser910=)
|
|
|
|
NM_017780.4(CHD7):c.2747G>T (p.Ser916Ile)
|
|
|
|
NM_017780.4(CHD7):c.2750C>T (p.Thr917Met)
|
|
|
|
NM_017780.4(CHD7):c.2755_2756delinsCG (p.Glu919Arg)
|
|
|
|
NM_017780.4(CHD7):c.2763G>A (p.Arg921=)
|
|
|
|
NM_017780.4(CHD7):c.2766G>A (p.Gln922=)
|
|
|
|
NM_017780.4(CHD7):c.2767dup (p.Asp923fs)
|
rs1804056309
|
|
|
NM_017780.4(CHD7):c.2769C>T (p.Asp923=)
|
rs1375498221
|
|
|
NM_017780.4(CHD7):c.2775T>A (p.Asp925Glu)
|
|
|
|
NM_017780.4(CHD7):c.2775T>G (p.Asp925Glu)
|
rs749781431
|
|
|
NM_017780.4(CHD7):c.2782A>G (p.Lys928Glu)
|
|
|
|
NM_017780.4(CHD7):c.2787C>A (p.Ile929=)
|
rs771367272
|
|
|
NM_017780.4(CHD7):c.2787C>G (p.Ile929Met)
|
rs771367272
|
|
|
NM_017780.4(CHD7):c.2787C>T (p.Ile929=)
|
rs771367272
|
|
|
NM_017780.4(CHD7):c.278C>A (p.Thr93Asn)
|
rs1809027007
|
|
|
NM_017780.4(CHD7):c.278C>T (p.Thr93Ile)
|
rs1809027007
|
|
|
NM_017780.4(CHD7):c.279C>T (p.Thr93=)
|
rs2150577775
|
|
|
NM_017780.4(CHD7):c.27T>G (p.Leu9=)
|
|
|
|
NM_017780.4(CHD7):c.2801A>C (p.Lys934Thr)
|
rs767217637
|
|
|
NM_017780.4(CHD7):c.2805_2806insTT (p.Met936fs)
|
rs2150748939
|
|
|
NM_017780.4(CHD7):c.280C>T (p.Pro94Ser)
|
|
|
|
NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp)
|
rs1586389578
|
|
|
NM_017780.4(CHD7):c.281del (p.Pro94fs)
|
rs1809027236
|
|
|
NM_017780.4(CHD7):c.2820_2822dup (p.Glu941_Thr942insGlu)
|
|
|
|
NM_017780.4(CHD7):c.2822A>C (p.Glu941Ala)
|
|
|
|
NM_017780.4(CHD7):c.282del (p.Asn96fs)
|
rs1563559321
|
|
|
NM_017780.4(CHD7):c.2834T>C (p.Val945Ala)
|
|
|
|
NM_017780.4(CHD7):c.2835+13T>C
|
|
|
|
NM_017780.4(CHD7):c.2835+16T>C
|
|
|
|
NM_017780.4(CHD7):c.2835+18G>A
|
|
|
|
NM_017780.4(CHD7):c.2835+18G>C
|
rs143580627
|
|
|
NM_017780.4(CHD7):c.2836-10T>A
|
|
|
|
NM_017780.4(CHD7):c.2836-13A>G
|
rs757536080
|
|
|
NM_017780.4(CHD7):c.2836-16A>C
|
|
|
|
NM_017780.4(CHD7):c.2836-16A>G
|
|
|
|
NM_017780.4(CHD7):c.2836-1G>A
|
rs1586389929
|
|
|
NM_017780.4(CHD7):c.2836-20A>G
|
|
|
|
NM_017780.4(CHD7):c.2836-2A>T
|
rs878855031
|
|
|
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter)
|
rs200220845
|
|
|
NM_017780.4(CHD7):c.2848G>A (p.Ala950Thr)
|
|
|
|
NM_017780.4(CHD7):c.2849C>T (p.Ala950Val)
|
|
|
|
NM_017780.4(CHD7):c.2852A>T (p.Asp951Val)
|
rs768456277
|
|
|
NM_017780.4(CHD7):c.2856T>C (p.Asp952=)
|
|
|
|
NM_017780.4(CHD7):c.2868G>A (p.Ser956=)
|
|
|
|
NM_017780.4(CHD7):c.2872A>C (p.Ser958Arg)
|
|
|
|
NM_017780.4(CHD7):c.2872_2873del (p.Ser958fs)
|
|
|
|
NM_017780.4(CHD7):c.2880G>A (p.Arg960=)
|
|
|
|
NM_017780.4(CHD7):c.2880G>T (p.Arg960Ser)
|
rs1554597489
|
|
|
NM_017780.4(CHD7):c.2894A>G (p.Asn965Ser)
|
|
|
|
NM_017780.4(CHD7):c.2897A>G (p.Asn966Ser)
|
|
|
|
NM_017780.4(CHD7):c.2898C>T (p.Asn966=)
|
|
|
|
NM_017780.4(CHD7):c.2905A>G (p.Arg969Gly)
|
rs1554597501
|
|
|
NM_017780.4(CHD7):c.2908G>T (p.Glu970Ter)
|
|
|
|
NM_017780.4(CHD7):c.2916G>A (p.Gln972=)
|
|
|
|
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer)
|
rs1586390136
|
|
|
NM_017780.4(CHD7):c.2919_2927del (p.Glu974_Val976del)
|
rs1804070388
|
|
|
NM_017780.4(CHD7):c.2922G>A (p.Glu974=)
|
|
|
|
NM_017780.4(CHD7):c.292C>T (p.Leu98Phe)
|
|
|
|
NM_017780.4(CHD7):c.2930del (p.Asn977fs)
|
|
|
|
NM_017780.4(CHD7):c.2948G>A (p.Trp983Ter)
|
|
|
|
NM_017780.4(CHD7):c.2949G>A (p.Trp983Ter)
|
|
|
|
NM_017780.4(CHD7):c.2951A>G (p.Tyr984Cys)
|
|
|
|
NM_017780.4(CHD7):c.2957+11C>G
|
|
|
|
NM_017780.4(CHD7):c.2957+15T>A
|
|
|
|
NM_017780.4(CHD7):c.2957+2T>C
|
rs2150749475
|
|
|
NM_017780.4(CHD7):c.2957+6T>A
|
|
|
|
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter)
|
rs886040983
|
|
|
NM_017780.4(CHD7):c.295G>A (p.Ala99Thr)
|
rs779024959
|
|
|
NM_017780.4(CHD7):c.2983A>G (p.Met995Val)
|
|
|
|
NM_017780.4(CHD7):c.2986G>A (p.Gly996Ser)
|
rs1554597672
|
|
|
NM_017780.4(CHD7):c.2991G>C (p.Leu997Phe)
|
rs1804093530
|
|
|
NM_017780.4(CHD7):c.29_30del (p.Phe10fs)
|
rs1586247124
|
|
|
NM_017780.4(CHD7):c.3001A>C (p.Ile1001Leu)
|
|
|
|
NM_017780.4(CHD7):c.3005A>T (p.Gln1002Leu)
|
rs1223377243
|
|
|
NM_017780.4(CHD7):c.3006G>A (p.Gln1002=)
|
|
|
|
NM_017780.4(CHD7):c.3013A>C (p.Thr1005Pro)
|
|
|
|
NM_017780.4(CHD7):c.3025G>A (p.Glu1009Lys)
|
rs1804094552
|
|
|
NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met)
|
rs1206578296
|
|
|
NM_017780.4(CHD7):c.3031T>C (p.Tyr1011His)
|
|
|
|
NM_017780.4(CHD7):c.3033T>C (p.Tyr1011=)
|
|
|
|
NM_017780.4(CHD7):c.3036G>C (p.Leu1012Phe)
|
rs1804095307
|
|
|
NM_017780.4(CHD7):c.303G>C (p.Pro101=)
|
|
|
|
NM_017780.4(CHD7):c.3041G>A (p.Gly1014Glu)
|
|
|
|
NM_017780.4(CHD7):c.305A>G (p.His102Arg)
|
|
|
|
NM_017780.4(CHD7):c.3061G>T (p.Val1021Leu)
|
|
|
|
NM_017780.4(CHD7):c.3069C>G (p.Ala1023=)
|
|
|
|
NM_017780.4(CHD7):c.306C>T (p.His102=)
|
rs368111535
|
|
|
NM_017780.4(CHD7):c.3072A>G (p.Pro1024=)
|
rs2150750309
|
|
|
NM_017780.4(CHD7):c.3073T>C (p.Leu1025=)
|
|
|
|
NM_017780.4(CHD7):c.3078C>T (p.Ser1026=)
|
|
|
|
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val)
|
rs121434338
|
|
|
NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser)
|
rs886041167
|
|
|
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys)
|
rs1060503187
|
|
|
NM_017780.4(CHD7):c.3094_3114del (p.Glu1032_Trp1038del)
|
rs1804098493
|
|
|
NM_017780.4(CHD7):c.309G>C (p.Ser103=)
|
rs115293759
|
|
|
NM_017780.4(CHD7):c.3111C>A (p.Thr1037=)
|
rs1586391319
|
|
|
NM_017780.4(CHD7):c.311A>G (p.Gln104Arg)
|
|
|
|
NM_017780.4(CHD7):c.3126C>A (p.Asn1042Lys)
|
rs568551629
|
|
|
NM_017780.4(CHD7):c.312G>T (p.Gln104His)
|
|
|
|
NM_017780.4(CHD7):c.3130G>A (p.Val1044Ile)
|
rs2150750448
|
|
|
NM_017780.4(CHD7):c.3155G>C (p.Ser1052Thr)
|
|
|
|
NM_017780.4(CHD7):c.3158G>A (p.Arg1053His)
|
|
|
|
NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln)
|
rs750203389
|
|
|
NM_017780.4(CHD7):c.3174G>T (p.Leu1058Phe)
|
|
|
|
NM_017780.4(CHD7):c.318C>T (p.His106=)
|
rs2150577900
|
|
|
NM_017780.4(CHD7):c.3191A>G (p.Lys1064Arg)
|
rs771941657
|
|
|
NM_017780.4(CHD7):c.3196C>T (p.Pro1066Ser)
|
|
|
|
NM_017780.4(CHD7):c.3198C>G (p.Pro1066=)
|
|
|
|
NM_017780.4(CHD7):c.3201+10C>T
|
|
|
|
NM_017780.4(CHD7):c.3201+16T>G
|
|
|
|
NM_017780.4(CHD7):c.3201+19T>A
|
|
|
|
NM_017780.4(CHD7):c.3201+1G>A
|
rs1804103264
|
|
|
NM_017780.4(CHD7):c.3201+20A>T
|
|
|
|
NM_017780.4(CHD7):c.3202-18T>A
|
|
|
|
NM_017780.4(CHD7):c.3202-18T>C
|
|
|
|
NM_017780.4(CHD7):c.3202-3T>G
|
rs1060503183
|
|
|
NM_017780.4(CHD7):c.3202-4dup
|
|
|
|
NM_017780.4(CHD7):c.3202-6T>C
|
|
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
|
NM_017780.4(CHD7):c.3206G>C (p.Arg1069Pro)
|
|
|
|
NM_017780.4(CHD7):c.3207A>G (p.Arg1069=)
|
|
|
|
NM_017780.4(CHD7):c.320C>A (p.Thr107Asn)
|
|
|
|
NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu)
|
rs1804153455
|
|
|
NM_017780.4(CHD7):c.322C>T (p.Pro108Ser)
|
|
|
|
NM_017780.4(CHD7):c.3237_3238insTAC (p.Ala1079_Ile1080insTyr)
|
rs1804153900
|
|
|
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile)
|
rs1804154342
|
|
|
NM_017780.4(CHD7):c.3267T>G (p.Thr1089=)
|
rs1804154884
|
|
|
NM_017780.4(CHD7):c.327C>G (p.Pro109=)
|
|
|
|
NM_017780.4(CHD7):c.327C>T (p.Pro109=)
|
|
|
|
NM_017780.4(CHD7):c.3284G>A (p.Arg1095Gln)
|
|
|
|
NM_017780.4(CHD7):c.3286A>C (p.Asn1096His)
|
|
|
|
NM_017780.4(CHD7):c.3287A>G (p.Asn1096Ser)
|
|
|
|
NM_017780.4(CHD7):c.3288T>C (p.Asn1096=)
|
|
|
|
NM_017780.4(CHD7):c.328G>A (p.Val110Ile)
|
|
|
|
NM_017780.4(CHD7):c.328_329insGGAGG (p.Val110fs)
|
|
|
|
NM_017780.4(CHD7):c.3291T>C (p.Ile1097=)
|
rs551443626
|
|
|
NM_017780.4(CHD7):c.3294A>G (p.Pro1098=)
|
|
|
|
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)
|
rs1586393556
|
|
|
NM_017780.4(CHD7):c.3302G>A (p.Cys1101Tyr)
|
rs1554598013
|
|
|
NM_017780.4(CHD7):c.3306A>G (p.Val1102=)
|
|
|
|
NM_017780.4(CHD7):c.3314A>G (p.Asp1105Gly)
|
|
|
|
NM_017780.4(CHD7):c.3320_3333dup (p.Asn1112delinsProThrGlyTer)
|
|
|
|
NM_017780.4(CHD7):c.3325A>G (p.Arg1109Gly)
|
|
|
|
NM_017780.4(CHD7):c.3336C>T (p.Asn1112=)
|
|
|
|
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg)
|
rs750214154
|
|
|
NM_017780.4(CHD7):c.3351G>C (p.Leu1117=)
|
|
|
|
NM_017780.4(CHD7):c.3369dup (p.Met1124fs)
|
|
|
|
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr)
|
rs1804159058
|
|
|
NM_017780.4(CHD7):c.3378+14T>C
|
|
|
|
NM_017780.4(CHD7):c.3378+5G>C
|
rs1554598029
|
|
|
NM_017780.4(CHD7):c.3378+8A>G
|
|
|
|
NM_017780.4(CHD7):c.3378G>C (p.Leu1126Phe)
|
|
|
|
NM_017780.4(CHD7):c.3379-12G>C
|
|
|
|
NM_017780.4(CHD7):c.3379-2A>C
|
rs864622523
|
|
|
NM_017780.4(CHD7):c.3379-5C>G
|
|
|
|
NM_017780.4(CHD7):c.3379-6C>T
|
|
|
|
NM_017780.4(CHD7):c.3379-9T>A
|
rs1586401989
|
|
|
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter)
|
rs1563636399
|
|
|
NM_017780.4(CHD7):c.337G>T (p.Val113Leu)
|
rs2150577960
|
|
|
NM_017780.4(CHD7):c.3381A>G (p.Glu1127=)
|
rs1015914018
|
|
|
NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr)
|
|
|
|
NM_017780.4(CHD7):c.3394C>T (p.Leu1132=)
|
rs769233218
|
|
|
NM_017780.4(CHD7):c.3395T>A (p.Leu1132Gln)
|
|
|
|
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met)
|
rs1064793083
|
|
|
NM_017780.4(CHD7):c.3399G>A (p.Thr1133=)
|
rs537533901
|
|
|
NM_017780.4(CHD7):c.3405C>T (p.Thr1135=)
|
rs1427044855
|
|
|
NM_017780.4(CHD7):c.3421G>A (p.Val1141Met)
|
|
|
|
NM_017780.4(CHD7):c.3423G>A (p.Val1141=)
|
|
|
|
NM_017780.4(CHD7):c.3443T>C (p.Leu1148Pro)
|
|
|
|
NM_017780.4(CHD7):c.3464G>T (p.Arg1155Leu)
|
|
|
|
NM_017780.4(CHD7):c.3470del (p.Pro1157fs)
|
rs1804367478
|
|
|
NM_017780.4(CHD7):c.3483A>C (p.Thr1161=)
|
|
|
|
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter)
|
rs1554599065
|
|
|
NM_017780.4(CHD7):c.3492A>G (p.Gln1164=)
|
rs1804368569
|
|
|
NM_017780.4(CHD7):c.34G>A (p.Glu12Lys)
|
|
|
|
NM_017780.4(CHD7):c.3501T>C (p.Gly1167=)
|
|
|
|
NM_017780.4(CHD7):c.3502G>A (p.Asp1168Asn)
|
rs2150761332
|
|
|
NM_017780.4(CHD7):c.3504T>C (p.Asp1168=)
|
|
|
|
NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs)
|
rs1804369315
|
|
|
NM_017780.4(CHD7):c.3517G>A (p.Glu1173Lys)
|
rs2150761372
|
|
|
NM_017780.4(CHD7):c.351C>G (p.Gly117=)
|
|
|
|
NM_017780.4(CHD7):c.3522+11G>C
|
rs1266763613
|
|
|
NM_017780.4(CHD7):c.3522+19T>C
|
|
|
|
NM_017780.4(CHD7):c.3522+20T>C
|
|
|
|
NM_017780.4(CHD7):c.3522+20T>G
|
rs577146364
|
|
|
NM_017780.4(CHD7):c.3522+4T>G
|
|
|
|
NM_017780.4(CHD7):c.3523-15A>G
|
rs2150764543
|
|
|
NM_017780.4(CHD7):c.3523-2A>C
|
rs2150764574
|
|
|
NM_017780.4(CHD7):c.352_360del (p.Ser118_Gly120del)
|
|
|
|
NM_017780.4(CHD7):c.355G>C (p.Gly119Arg)
|
|
|
|
NM_017780.4(CHD7):c.3561G>A (p.Leu1187=)
|
|
|
|
NM_017780.4(CHD7):c.3565C>G (p.Arg1189Gly)
|
|
|
|
NM_017780.4(CHD7):c.3566G>A (p.Arg1189His)
|
rs1554599432
|
|
|
NM_017780.4(CHD7):c.356_359dup (p.Gly121fs)
|
rs2150578004
|
|
|
NM_017780.4(CHD7):c.3576G>A (p.Glu1192=)
|
|
|
|
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs)
|
rs1586405367
|
|
|
NM_017780.4(CHD7):c.3579T>C (p.Asp1193=)
|
|
|
|
NM_017780.4(CHD7):c.3591C>T (p.Asn1197=)
|
|
|
|
NM_017780.4(CHD7):c.3595G>T (p.Ala1199Ser)
|
|
|
|
NM_017780.4(CHD7):c.3600C>T (p.Pro1200=)
|
|
|
|
NM_017780.4(CHD7):c.3601A>G (p.Lys1201Glu)
|
rs1804453835
|
|
|
NM_017780.4(CHD7):c.3602A>G (p.Lys1201Arg)
|
|
|
|
NM_017780.4(CHD7):c.3606A>G (p.Glu1202=)
|
|
|
|
NM_017780.4(CHD7):c.3634_3637del (p.Asn1212fs)
|
|
|
|
NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro)
|
rs1804454889
|
|
|
NM_017780.4(CHD7):c.3651T>C (p.Tyr1217=)
|
|
|
|
NM_017780.4(CHD7):c.3654C>T (p.Tyr1218=)
|
rs1563638250
|
|
|
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter)
|
rs372174845
|
|
|
NM_017780.4(CHD7):c.3657A>T (p.Arg1219=)
|
|
|
|
NM_017780.4(CHD7):c.3667G>A (p.Glu1223Lys)
|
|
|
|
NM_017780.4(CHD7):c.3678del (p.Phe1226fs)
|
rs863224518
|
|
|
NM_017780.4(CHD7):c.3688T>G (p.Ser1230Ala)
|
|
|
|
NM_017780.4(CHD7):c.3695G>A (p.Gly1232Asp)
|
|
|
|
NM_017780.4(CHD7):c.3695_3710dup (p.Asn1237delinsLysArgTrpSerSerTer)
|
rs2150764898
|
|
|
NM_017780.4(CHD7):c.3698G>A (p.Gly1233Asp)
|
|
|
|
NM_017780.4(CHD7):c.36G>A (p.Glu12=)
|
|
|
|
NM_017780.4(CHD7):c.3705A>T (p.Gln1235His)
|
|
|
|
NM_017780.4(CHD7):c.3708T>C (p.Ala1236=)
|
rs2150764981
|
|
|
NM_017780.4(CHD7):c.3719A>C (p.Asn1240Thr)
|
|
|
|
NM_017780.4(CHD7):c.3764C>T (p.Pro1255Leu)
|
|
|
|
NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter)
|
rs878855032
|
|
|
NM_017780.4(CHD7):c.3778+11C>T
|
|
|
|
NM_017780.4(CHD7):c.3778+19C>T
|
|
|
|
NM_017780.4(CHD7):c.3778+20G>A
|
|
|
|
NM_017780.4(CHD7):c.3778+20G>C
|
|
|
|
NM_017780.4(CHD7):c.3778+6G>A
|
|
|
|
NM_017780.4(CHD7):c.3778+8T>C
|
|
|
|
NM_017780.4(CHD7):c.3778+9G>T
|
|
|
|
NM_017780.4(CHD7):c.3779-13C>T
|
|
|
|
NM_017780.4(CHD7):c.3779-15G>A
|
rs2150775393
|
|
|
NM_017780.4(CHD7):c.3779-18G>A
|
rs2150775387
|
|
|
NM_017780.4(CHD7):c.3779-18G>C
|
|
|
|
NM_017780.4(CHD7):c.3779-19T>C
|
|
|
|
NM_017780.4(CHD7):c.3779-7T>G
|
|
|
|
NM_017780.4(CHD7):c.3804G>C (p.Glu1268Asp)
|
|
|
|
NM_017780.4(CHD7):c.3821A>G (p.Asn1274Ser)
|
|
|
|
NM_017780.4(CHD7):c.3828G>A (p.Glu1276=)
|
|
|
|
NM_017780.4(CHD7):c.3835G>A (p.Asp1279Asn)
|
rs864622150
|
|
|
NM_017780.4(CHD7):c.3840del (p.Gln1281fs)
|
|
|
|
NM_017780.4(CHD7):c.3843G>T (p.Gln1281His)
|
rs745423641
|
|
|
NM_017780.4(CHD7):c.3844C>G (p.Leu1282Val)
|
|
|
|
NM_017780.4(CHD7):c.3847C>T (p.Gln1283Ter)
|
|
|
|
NM_017780.4(CHD7):c.3850G>A (p.Ala1284Thr)
|
|
|
|
NM_017780.4(CHD7):c.3851C>T (p.Ala1284Val)
|
rs1586416413
|
|
|
NM_017780.4(CHD7):c.3852A>T (p.Ala1284=)
|
|
|
|
NM_017780.4(CHD7):c.3858C>A (p.Ile1286=)
|
|
|
|
NM_017780.4(CHD7):c.3858C>T (p.Ile1286=)
|
|
|
|
NM_017780.4(CHD7):c.3867T>A (p.Ala1289=)
|
|
|
|
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)
|
rs864309609
|
|
|
NM_017780.4(CHD7):c.3885T>A (p.Ile1295=)
|
|
|
|
NM_017780.4(CHD7):c.3894G>T (p.Leu1298=)
|
|
|
|
NM_017780.4(CHD7):c.3895C>T (p.Leu1299=)
|
|
|
|
NM_017780.4(CHD7):c.3900A>G (p.Pro1300=)
|
rs2150775740
|
|
|
NM_017780.4(CHD7):c.3912T>G (p.Ala1304=)
|
rs371595829
|
|
|
NM_017780.4(CHD7):c.3924G>A (p.Arg1308=)
|
|
|
|
NM_017780.4(CHD7):c.3928C>T (p.Leu1310Phe)
|
rs1563643440
|
|
|
NM_017780.4(CHD7):c.3937del (p.Ser1313fs)
|
rs1554600538
|
|
|
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys)
|
rs373301291
|
|
|
NM_017780.4(CHD7):c.3950G>A (p.Arg1317His)
|
|
|
|
NM_017780.4(CHD7):c.3953G>A (p.Cys1318Tyr)
|
|
|
|
NM_017780.4(CHD7):c.395_400delinsCAA (p.Glu132_His134delinsAlaAsn)
|
rs1809038190
|
|
|
NM_017780.4(CHD7):c.3963A>C (p.Ile1321=)
|
|
|
|
NM_017780.4(CHD7):c.3964C>G (p.Leu1322Val)
|
|
|
|
NM_017780.4(CHD7):c.3979A>G (p.Ile1327Val)
|
|
|
|
NM_017780.4(CHD7):c.3989+11C>T
|
rs2150775930
|
|
|
NM_017780.4(CHD7):c.3989+2T>G
|
|
|
|
NM_017780.4(CHD7):c.3989G>A (p.Arg1330Gln)
|
rs1060503186
|
|
|
NM_017780.4(CHD7):c.398_401del (p.Arg133fs)
|
|
|
|
NM_017780.4(CHD7):c.3990-10T>A
|
|
|
|
NM_017780.4(CHD7):c.3990-11A>T
|
|
|
|
NM_017780.4(CHD7):c.3990-8T>C
|
|
|
|
NM_017780.4(CHD7):c.3990-9G>A
|
|
|
|
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer)
|
rs1586417729
|
|
|
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)
|
rs1563644066
|
|
|
NM_017780.4(CHD7):c.4020A>G (p.Val1340=)
|
|
|
|
NM_017780.4(CHD7):c.4028A>G (p.Asn1343Ser)
|
|
|
|
NM_017780.4(CHD7):c.4030C>T (p.Leu1344Phe)
|
rs1478092831
|
|
|
NM_017780.4(CHD7):c.4033C>T (p.Arg1345Cys)
|
rs1563644113
|
|
|
NM_017780.4(CHD7):c.4034G>A (p.Arg1345His)
|
|
|
|
NM_017780.4(CHD7):c.4039G>A (p.Ala1347Thr)
|
rs1804767147
|
|
|
NM_017780.4(CHD7):c.4053A>G (p.Arg1351=)
|
|
|
|
NM_017780.4(CHD7):c.4056C>T (p.Phe1352=)
|
rs2150777183
|
|
|
NM_017780.4(CHD7):c.4059C>A (p.Ser1353=)
|
|
|
|
NM_017780.4(CHD7):c.406C>T (p.Gln136Ter)
|
|
|
|
NM_017780.4(CHD7):c.4073A>G (p.Asp1358Gly)
|
rs2150777199
|
|
|
NM_017780.4(CHD7):c.4075A>T (p.Arg1359Trp)
|
rs1586417903
|
|
|
NM_017780.4(CHD7):c.4080T>G (p.Phe1360Leu)
|
|
|
|
NM_017780.4(CHD7):c.4088T>A (p.Leu1363His)
|
rs1064796242
|
|
|
NM_017780.4(CHD7):c.4090C>T (p.Leu1364=)
|
|
|
|
NM_017780.4(CHD7):c.4092G>A (p.Leu1364=)
|
|
|
|
NM_017780.4(CHD7):c.4100G>A (p.Arg1367Lys)
|
|
|
|
NM_017780.4(CHD7):c.4101G>A (p.Arg1367=)
|
|
|
|
NM_017780.4(CHD7):c.4119T>G (p.Ile1373Met)
|
|
|
|
NM_017780.4(CHD7):c.411C>G (p.Ser137=)
|
rs1317598292
|
|
|
NM_017780.4(CHD7):c.4125C>T (p.Leu1375=)
|
|
|
|
NM_017780.4(CHD7):c.4128T>C (p.Thr1376=)
|
|
|
|
NM_017780.4(CHD7):c.4139C>A (p.Thr1380Asn)
|
|
|
|
NM_017780.4(CHD7):c.4157C>G (p.Ser1386Ter)
|
|
|
|
NM_017780.4(CHD7):c.4160A>G (p.Asp1387Gly)
|
|
|
|
NM_017780.4(CHD7):c.4162T>C (p.Trp1388Arg)
|
|
|
|
NM_017780.4(CHD7):c.4170C>T (p.Pro1390=)
|
rs907362259
|
|
|
NM_017780.4(CHD7):c.417G>A (p.Val139=)
|
rs2150578159
|
|
|
NM_017780.4(CHD7):c.4182C>G (p.Leu1394=)
|
rs375867019
|
|
|
NM_017780.4(CHD7):c.4185+17G>A
|
|
|
|
NM_017780.4(CHD7):c.4186-3C>G
|
|
|
|
NM_017780.4(CHD7):c.4203T>C (p.His1401=)
|
rs969238742
|
|
|
NM_017780.4(CHD7):c.4216_4217del (p.Ser1406fs)
|
|
|
|
NM_017780.4(CHD7):c.4217G>A (p.Ser1406Asn)
|
|
|
|
NM_017780.4(CHD7):c.421A>T (p.Ser141Cys)
|
|
|
|
NM_017780.4(CHD7):c.4224T>C (p.Ser1408=)
|
rs2150778596
|
|
|
NM_017780.4(CHD7):c.4230A>G (p.Lys1410=)
|
|
|
|
NM_017780.4(CHD7):c.4233C>G (p.Ile1411Met)
|
|
|
|
NM_017780.4(CHD7):c.4236C>G (p.Tyr1412Ter)
|
|
|
|
NM_017780.4(CHD7):c.4245T>A (p.Ile1415=)
|
rs2150778641
|
|
|
NM_017780.4(CHD7):c.4247C>G (p.Thr1416Arg)
|
rs770166812
|
|
|
NM_017780.4(CHD7):c.4257C>T (p.Ser1419=)
|
|
|
|
NM_017780.4(CHD7):c.425G>C (p.Ser142Thr)
|
|
|
|
NM_017780.4(CHD7):c.4261G>A (p.Glu1421Lys)
|
rs2150778664
|
|
|
NM_017780.4(CHD7):c.4277A>G (p.Asp1426Gly)
|
rs1804802453
|
|
|
NM_017780.4(CHD7):c.4281G>A (p.Lys1427=)
|
rs2150778687
|
|
|
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs)
|
rs1586419497
|
|
|
NM_017780.4(CHD7):c.42G>A (p.Gly14=)
|
rs1215319146
|
|
|
NM_017780.4(CHD7):c.4317A>G (p.Leu1439=)
|
|
|
|
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter)
|
rs587783440
|
|
|
NM_017780.4(CHD7):c.4324A>G (p.Met1442Val)
|
|
|
|
NM_017780.4(CHD7):c.432G>A (p.Met144Ile)
|
|
|
|
NM_017780.4(CHD7):c.4346C>T (p.Thr1449Ile)
|
|
|
|
NM_017780.4(CHD7):c.4353+12C>G
|
|
|
|
NM_017780.4(CHD7):c.4353+1G>T
|
rs1804804514
|
|
|
NM_017780.4(CHD7):c.4353+4A>C
|
rs1804804691
|
|
|
NM_017780.4(CHD7):c.4354-12T>G
|
|
|
|
NM_017780.4(CHD7):c.4354-1G>A
|
rs2150779252
|
|
|
NM_017780.4(CHD7):c.4354G>A (p.Val1452Ile)
|
|
|
|
NM_017780.4(CHD7):c.4360C>T (p.Gln1454Ter)
|
rs2150779267
|
|
|
NM_017780.4(CHD7):c.4375G>T (p.Glu1459Ter)
|
|
|
|
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs)
|
rs398124319
|
|
|
NM_017780.4(CHD7):c.4385A>G (p.Asp1462Gly)
|
|
|
|
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)
|
rs886040991
|
|
|
NM_017780.4(CHD7):c.4394G>A (p.Arg1465Gln)
|
|
|
|
NM_017780.4(CHD7):c.4395A>G (p.Arg1465=)
|
|
|
|
NM_017780.4(CHD7):c.4404C>T (p.Ala1468=)
|
rs1214452736
|
|
|
NM_017780.4(CHD7):c.440C>T (p.Pro147Leu)
|
|
|
|
NM_017780.4(CHD7):c.4424del (p.Glu1475fs)
|
rs1804819972
|
|
|
NM_017780.4(CHD7):c.442A>C (p.Arg148=)
|
|
|
|
NM_017780.4(CHD7):c.4437G>T (p.Gly1479=)
|
|
|
|
NM_017780.4(CHD7):c.443G>A (p.Arg148Lys)
|
|
|
|
NM_017780.4(CHD7):c.4470C>T (p.Ile1490=)
|
|
|
|
NM_017780.4(CHD7):c.4473C>T (p.Leu1491=)
|
|
|
|
NM_017780.4(CHD7):c.4474C>G (p.Leu1492Val)
|
|
|
|
NM_017780.4(CHD7):c.4476A>C (p.Leu1492=)
|
|
|
|
NM_017780.4(CHD7):c.4476A>G (p.Leu1492=)
|
|
|
|
NM_017780.4(CHD7):c.447T>C (p.Ala149=)
|
|
|
|
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)
|
rs587783442
|
|
|
NM_017780.4(CHD7):c.4483A>G (p.Thr1495Ala)
|
|
|
|
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs)
|
rs1563645417
|
|
|
NM_017780.4(CHD7):c.4505C>T (p.Ser1502Leu)
|
|
|
|
NM_017780.4(CHD7):c.4509A>G (p.Glu1503=)
|
|
|
|
NM_017780.4(CHD7):c.4515A>G (p.Lys1505=)
|
|
|
|
NM_017780.4(CHD7):c.4524A>G (p.Thr1508=)
|
|
|
|
NM_017780.4(CHD7):c.4533+10G>A
|
|
|
|
NM_017780.4(CHD7):c.4533+1G>C
|
|
|
|
NM_017780.4(CHD7):c.4533+7A>C
|
|
|
|
NM_017780.4(CHD7):c.4534-11T>C
|
rs2150785971
|
|
|
NM_017780.4(CHD7):c.4534-12T>C
|
|
|
|
NM_017780.4(CHD7):c.4534-20C>A
|
rs727503866
|
|
|
NM_017780.4(CHD7):c.4534-7T>G
|
rs757333865
|
|
|
NM_017780.4(CHD7):c.4541T>G (p.Phe1514Cys)
|
rs1554601592
|
|
|
NM_017780.4(CHD7):c.4542del (p.Phe1514fs)
|
rs2150785999
|
|
|
NM_017780.4(CHD7):c.4573T>C (p.Leu1525=)
|
|
|
|
NM_017780.4(CHD7):c.4594C>G (p.Gln1532Glu)
|
rs2150786112
|
|
|
NM_017780.4(CHD7):c.4605T>C (p.Ala1535=)
|
|
|
|
NM_017780.4(CHD7):c.4613C>G (p.Ala1538Gly)
|
|
|
|
NM_017780.4(CHD7):c.4614T>C (p.Ala1538=)
|
rs2150786158
|
|
|
NM_017780.4(CHD7):c.4616A>C (p.Glu1539Ala)
|
|
|
|
NM_017780.4(CHD7):c.4627dup (p.Asp1543fs)
|
rs2150786214
|
|
|
NM_017780.4(CHD7):c.462C>G (p.Asp154Glu)
|
|
|
|
NM_017780.4(CHD7):c.4636A>C (p.Asn1546His)
|
|
|
|
NM_017780.4(CHD7):c.4639G>C (p.Gly1547Arg)
|
rs1563648680
|
|
|
NM_017780.4(CHD7):c.463C>T (p.Gln155Ter)
|
rs1809042353
|
|
|
NM_017780.4(CHD7):c.4641G>C (p.Gly1547=)
|
|
|
|
NM_017780.4(CHD7):c.4644+11A>C
|
|
|
|
NM_017780.4(CHD7):c.4644+14C>A
|
|
|
|
NM_017780.4(CHD7):c.4644+15C>A
|
|
|
|
NM_017780.4(CHD7):c.4644+16C>T
|
|
|
|
NM_017780.4(CHD7):c.4644+20C>G
|
|
|
|
NM_017780.4(CHD7):c.4644+9_4644+10insTTG
|
rs1363820681
|
|
|
NM_017780.4(CHD7):c.4645-15C>G
|
rs949803813
|
|
|
NM_017780.4(CHD7):c.4645-16C>T
|
rs1487936420
|
|
|
NM_017780.4(CHD7):c.4645-1G>A
|
|
|
|
NM_017780.4(CHD7):c.4652del (p.Leu1551fs)
|
rs1586426486
|
|
|
NM_017780.4(CHD7):c.4656T>C (p.Val1552=)
|
|
|
|
NM_017780.4(CHD7):c.4662del (p.Asp1554fs)
|
rs1563648905
|
|
|
NM_017780.4(CHD7):c.4664C>A (p.Thr1555Asn)
|
|
|
|
NM_017780.4(CHD7):c.4667dup (p.Arg1557fs)
|
rs2150786530
|
|
|
NM_017780.4(CHD7):c.4669A>G (p.Arg1557Gly)
|
rs1804990594
|
|
|
NM_017780.4(CHD7):c.466A>C (p.Ile156Leu)
|
rs2150578286
|
|
|
NM_017780.4(CHD7):c.466A>G (p.Ile156Val)
|
|
|
|
NM_017780.4(CHD7):c.466A>T (p.Ile156Leu)
|
|
|
|
NM_017780.4(CHD7):c.4671A>G (p.Arg1557=)
|
rs2150786548
|
|
|
NM_017780.4(CHD7):c.467T>A (p.Ile156Lys)
|
|
|
|
NM_017780.4(CHD7):c.4683G>A (p.Gln1561=)
|
|
|
|
NM_017780.4(CHD7):c.4686C>A (p.Thr1562=)
|
|
|
|
NM_017780.4(CHD7):c.4688G>A (p.Arg1563Lys)
|
|
|
|
NM_017780.4(CHD7):c.4698T>G (p.Ser1566Arg)
|
|
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
|
NM_017780.4(CHD7):c.4707G>A (p.Lys1569=)
|
|
|
|
NM_017780.4(CHD7):c.4721T>C (p.Met1574Thr)
|
|
|
|
NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu)
|
rs1434566381
|
|
|
NM_017780.4(CHD7):c.4736T>C (p.Leu1579Ser)
|
|
|
|
NM_017780.4(CHD7):c.4737G>C (p.Leu1579Phe)
|
|
|
|
NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter)
|
rs1804993220
|
|
|
NM_017780.4(CHD7):c.473C>A (p.Ala158Asp)
|
|
|
|
NM_017780.4(CHD7):c.4746T>G (p.Asp1582Glu)
|
|
|
|
NM_017780.4(CHD7):c.4747del (p.Ser1583fs)
|
|
|
|
NM_017780.4(CHD7):c.4748C>T (p.Ser1583Phe)
|
|
|
|
NM_017780.4(CHD7):c.4757del (p.Lys1586fs)
|
|
|
|
NM_017780.4(CHD7):c.4767A>G (p.Ala1589=)
|
|
|
|
NM_017780.4(CHD7):c.4771C>T (p.Pro1591Ser)
|
rs2150786767
|
|
|
NM_017780.4(CHD7):c.4775G>A (p.Arg1592Gln)
|
rs1388750390
|
|
|
NM_017780.4(CHD7):c.4779T>C (p.Arg1593=)
|
|
|
|
NM_017780.4(CHD7):c.4779T>G (p.Arg1593=)
|
|
|
|
NM_017780.4(CHD7):c.4787A>G (p.Asp1596Gly)
|
rs1057521078
|
|
|
NM_017780.4(CHD7):c.478T>A (p.Tyr160Asn)
|
|
|
|
NM_017780.4(CHD7):c.478del (p.Tyr160fs)
|
rs1554581198
|
|
|
NM_017780.4(CHD7):c.4796A>G (p.Gln1599Arg)
|
|
|
|
NM_017780.4(CHD7):c.4798G>A (p.Gly1600Ser)
|
rs2150786873
|
|
|
NM_017780.4(CHD7):c.4800C>T (p.Gly1600=)
|
|
|
|
NM_017780.4(CHD7):c.4802A>T (p.Tyr1601Phe)
|
rs2150786892
|
|
|
NM_017780.4(CHD7):c.4807A>C (p.Arg1603=)
|
|
|
|
NM_017780.4(CHD7):c.480C>A (p.Tyr160Ter)
|
|
|
|
NM_017780.4(CHD7):c.481_482delinsAG (p.Gln161Arg)
|
rs2150578323
|
|
|
NM_017780.4(CHD7):c.4824G>A (p.Arg1608=)
|
|
|
|
NM_017780.4(CHD7):c.4829A>G (p.Glu1610Gly)
|
|
|
|
NM_017780.4(CHD7):c.4839G>C (p.Leu1613=)
|
rs1164615393
|
|
|
NM_017780.4(CHD7):c.4850+11C>T
|
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|
|
NM_017780.4(CHD7):c.4850+1G>A
|
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|
NM_017780.4(CHD7):c.4850+8_4850+9insATTTTTTTTG
|
rs2150787035
|
|
|
NM_017780.4(CHD7):c.4850+9G>T
|
rs2150787043
|
|
|
NM_017780.4(CHD7):c.4850G>A (p.Gly1617Asp)
|
rs1804999304
|
|
|
NM_017780.4(CHD7):c.4851-15A>T
|
|
|
|
NM_017780.4(CHD7):c.4851-17G>A
|
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|
NM_017780.4(CHD7):c.4851-18T>C
|
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|
NM_017780.4(CHD7):c.4851-4G>T
|
|
|
|
NM_017780.4(CHD7):c.4851T>G (p.Gly1617=)
|
rs181927766
|
|
|
NM_017780.4(CHD7):c.4854G>T (p.Trp1618Cys)
|
rs2150792862
|
|
|
NM_017780.4(CHD7):c.4857A>G (p.Gly1619=)
|
|
|
|
NM_017780.4(CHD7):c.4859G>T (p.Arg1620Leu)
|
|
|
|
NM_017780.4(CHD7):c.4860G>A (p.Arg1620=)
|
|
|
|
NM_017780.4(CHD7):c.4879C>T (p.His1627Tyr)
|
|
|
|
NM_017780.4(CHD7):c.4882G>A (p.Gly1628Arg)
|
rs944955791
|
|
|
NM_017780.4(CHD7):c.4886G>A (p.Arg1629His)
|
|
|
|
NM_017780.4(CHD7):c.4886G>C (p.Arg1629Pro)
|
|
|
|
NM_017780.4(CHD7):c.4888del (p.Tyr1630fs)
|
rs2150792975
|
|
|
NM_017780.4(CHD7):c.4891A>G (p.Lys1631Glu)
|
|
|
|
NM_017780.4(CHD7):c.4895G>A (p.Arg1632His)
|
|
|
|
NM_017780.4(CHD7):c.4897C>G (p.Gln1633Glu)
|
|
|
|
NM_017780.4(CHD7):c.4899A>T (p.Gln1633His)
|
|
|
|
NM_017780.4(CHD7):c.4906G>T (p.Glu1636Ter)
|
rs2150793053
|
|
|
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer)
|
rs864622455
|
|
|
NM_017780.4(CHD7):c.4917A>G (p.Val1639=)
|
|
|
|
NM_017780.4(CHD7):c.4933del (p.Thr1645fs)
|
rs2150793143
|
|
|
NM_017780.4(CHD7):c.4939C>A (p.Leu1647Met)
|
rs913573032
|
|
|
NM_017780.4(CHD7):c.4944_4945del (p.Tyr1649fs)
|
rs1805142029
|
|
|
NM_017780.4(CHD7):c.4951C>G (p.Leu1651Val)
|
|
|
|
NM_017780.4(CHD7):c.495_500del (p.164QP[2])
|
|
|
|
NM_017780.4(CHD7):c.495_500dup (p.164_165QP[4])
|
rs758131874
|
|
|
NM_017780.4(CHD7):c.4964A>G (p.Lys1655Arg)
|
|
|
|
NM_017780.4(CHD7):c.4968G>A (p.Gly1656=)
|
|
|
|
NM_017780.4(CHD7):c.4972G>C (p.Glu1658Gln)
|
rs1805142705
|
|
|
NM_017780.4(CHD7):c.4976A>G (p.Asn1659Ser)
|
|
|
|
NM_017780.4(CHD7):c.497_508del (p.164QP[1])
|
|
|
|
NM_017780.4(CHD7):c.498_506del (p.167PQP[1])
|
|
|
|
NM_017780.4(CHD7):c.499_516del (p.Pro167_Pro172del)
|
|
|
|
NM_017780.4(CHD7):c.5005A>C (p.Thr1669Pro)
|
|
|
|
NM_017780.4(CHD7):c.5005A>G (p.Thr1669Ala)
|
|
|
|
NM_017780.4(CHD7):c.5022C>T (p.Gly1674=)
|
|
|
|
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter)
|
rs777652245
|
|
|
NM_017780.4(CHD7):c.5030G>A (p.Arg1677Gln)
|
|
|
|
NM_017780.4(CHD7):c.5039T>C (p.Val1680Ala)
|
rs746011394
|
|
|
NM_017780.4(CHD7):c.503A>G (p.Gln168Arg)
|
rs921201693
|
|
|
NM_017780.4(CHD7):c.5043C>T (p.Asn1681=)
|
|
|
|
NM_017780.4(CHD7):c.5050+13C>T
|
|
|
|
NM_017780.4(CHD7):c.5050+17C>G
|
rs907564726
|
|
|
NM_017780.4(CHD7):c.5050+17C>T
|
|
|
|
NM_017780.4(CHD7):c.5050+19G>A
|
rs1371167281
|
|
|
NM_017780.4(CHD7):c.5050+5G>T
|
|
|
|
NM_017780.4(CHD7):c.5050+7C>T
|
rs2150793457
|
|
|
NM_017780.4(CHD7):c.5050+9C>G
|
|
|
|
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser)
|
rs1554602465
|
|
|
NM_017780.4(CHD7):c.5051-17T>A
|
|
|
|
NM_017780.4(CHD7):c.5051-20T>A
|
rs1394727727
|
|
|
NM_017780.4(CHD7):c.5051-4C>G
|
rs71640288
|
|
|
NM_017780.4(CHD7):c.5058A>G (p.Ser1686=)
|
rs1586432209
|
|
|
NM_017780.4(CHD7):c.5062C>T (p.Pro1688Ser)
|
|
|
|
NM_017780.4(CHD7):c.5066T>C (p.Val1689Ala)
|
rs2150793920
|
|
|
NM_017780.4(CHD7):c.506C>T (p.Pro169Leu)
|
|
|
|
NM_017780.4(CHD7):c.507_515dup (p.Pro172_Ala173insProGlnPro)
|
|
|
|
NM_017780.4(CHD7):c.5082G>T (p.Lys1694Asn)
|
rs1805156340
|
|
|
NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)
|
|
|
|
NM_017780.4(CHD7):c.5092G>A (p.Val1698Met)
|
|
|
|
NM_017780.4(CHD7):c.5092G>T (p.Val1698Leu)
|
rs777744183
|
|
|
NM_017780.4(CHD7):c.5101C>G (p.Gln1701Glu)
|
|
|
|
NM_017780.4(CHD7):c.5101del (p.Gln1701fs)
|
rs1554602557
|
|
|
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile)
|
rs1236442873
|
|
|
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter)
|
rs1805157634
|
|
|
NM_017780.4(CHD7):c.5111A>T (p.Gln1704Leu)
|
|
|
|
NM_017780.4(CHD7):c.5114C>G (p.Pro1705Arg)
|
rs373986410
|
|
|
NM_017780.4(CHD7):c.5114C>T (p.Pro1705Leu)
|
|
|
|
NM_017780.4(CHD7):c.5115G>T (p.Pro1705=)
|
|
|
|
NM_017780.4(CHD7):c.5123A>G (p.Gln1708Arg)
|
|
|
|
NM_017780.4(CHD7):c.5124G>C (p.Gln1708His)
|
|
|
|
NM_017780.4(CHD7):c.512A>G (p.Gln171Arg)
|
rs2150578491
|
|
|
NM_017780.4(CHD7):c.5136G>C (p.Trp1712Cys)
|
|
|
|
NM_017780.4(CHD7):c.515C>T (p.Pro172Leu)
|
|
|
|
NM_017780.4(CHD7):c.5166C>T (p.Phe1722=)
|
|
|
|
NM_017780.4(CHD7):c.5167del (p.Gln1723fs)
|
rs797044919
|
|
|
NM_017780.4(CHD7):c.5172G>A (p.Glu1724=)
|
rs1554602576
|
|
|
NM_017780.4(CHD7):c.5181C>T (p.Tyr1727=)
|
|
|
|
NM_017780.4(CHD7):c.518C>T (p.Ala173Val)
|
|
|
|
NM_017780.4(CHD7):c.5201A>G (p.His1734Arg)
|
|
|
|
NM_017780.4(CHD7):c.5202C>T (p.His1734=)
|
rs1805162254
|
|
|
NM_017780.4(CHD7):c.5209A>T (p.Lys1737Ter)
|
|
|
|
NM_017780.4(CHD7):c.520C>T (p.Pro174Ser)
|
|
|
|
NM_017780.4(CHD7):c.5210+12G>C
|
|
|
|
NM_017780.4(CHD7):c.5210+13A>G
|
|
|
|
NM_017780.4(CHD7):c.5210+14G>C
|
rs570609542
|
|
|
NM_017780.4(CHD7):c.5210+16G>A
|
|
|
|
NM_017780.4(CHD7):c.5210+9T>G
|
rs753589296
|
|
|
NM_017780.4(CHD7):c.5211-11T>C
|
|
|
|
NM_017780.4(CHD7):c.5211-14G>A
|
|
|
|
NM_017780.4(CHD7):c.5211-16C>T
|
|
|
|
NM_017780.4(CHD7):c.5211-16_5211-15del
|
rs771116507
|
|
|
NM_017780.4(CHD7):c.5211-17T>A
|
|
|
|
NM_017780.4(CHD7):c.5211-18C>A
|
|
|
|
NM_017780.4(CHD7):c.5211-18C>G
|
rs749368541
|
|
|
NM_017780.4(CHD7):c.5211-18C>T
|
rs749368541
|
|
|
NM_017780.4(CHD7):c.5211-19C>G
|
|
|
|
NM_017780.4(CHD7):c.5211-19C>T
|
|
|
|
NM_017780.4(CHD7):c.5211-1G>C
|
rs1060503180
|
|
|
NM_017780.4(CHD7):c.5211-2A>G
|
rs1805310365
|
|
|
NM_017780.4(CHD7):c.5211-2_5227del
|
rs1805310101
|
|
|
NM_017780.4(CHD7):c.5211-3del
|
rs1586437092
|
|
|
NM_017780.4(CHD7):c.5215C>T (p.Leu1739=)
|
|
|
|
NM_017780.4(CHD7):c.5221C>T (p.Arg1741Cys)
|
|
|
|
NM_017780.4(CHD7):c.5227C>T (p.Arg1743Cys)
|
|
|
|
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter)
|
rs1554603151
|
|
|
NM_017780.4(CHD7):c.5241C>A (p.Tyr1747Ter)
|
|
|
|
NM_017780.4(CHD7):c.5250A>G (p.Gln1750=)
|
|
|
|
NM_017780.4(CHD7):c.5256G>A (p.Val1752=)
|
rs1300830933
|
|
|
NM_017780.4(CHD7):c.525G>A (p.Ser175=)
|
|
|
|
NM_017780.4(CHD7):c.5262A>C (p.Gly1754=)
|
|
|
|
NM_017780.4(CHD7):c.5263G>C (p.Asp1755His)
|
rs1805312207
|
|
|
NM_017780.4(CHD7):c.5265C>A (p.Asp1755Glu)
|
rs2150800547
|
|
|
NM_017780.4(CHD7):c.5269G>A (p.Ala1757Thr)
|
|
|
|
NM_017780.4(CHD7):c.5272G>A (p.Asp1758Asn)
|
|
|
|
NM_017780.4(CHD7):c.5273A>G (p.Asp1758Gly)
|
|
|
|
NM_017780.4(CHD7):c.5277G>A (p.Lys1759=)
|
|
|
|
NM_017780.4(CHD7):c.5277G>T (p.Lys1759Asn)
|
|
|
|
NM_017780.4(CHD7):c.5291C>T (p.Ala1764Val)
|
|
|
|
NM_017780.4(CHD7):c.5300+11G>A
|
|
|
|
NM_017780.4(CHD7):c.5300+12C>T
|
|
|
|
NM_017780.4(CHD7):c.5300+216_5386delinsATCCAAACACACCATGT
|
|
|
|
NM_017780.4(CHD7):c.5300+8C>A
|
|
|
|
NM_017780.4(CHD7):c.5300+9G>A
|
|
|
|
NM_017780.4(CHD7):c.5301-10T>G
|
|
|
|
NM_017780.4(CHD7):c.5301-16A>C
|
|
|
|
NM_017780.4(CHD7):c.5301-17T>A
|
|
|
|
NM_017780.4(CHD7):c.5301-17T>C
|
rs768143056
|
|
|
NM_017780.4(CHD7):c.5301-3C>T
|
|
|
|
NM_017780.4(CHD7):c.5301-7C>T
|
|
|
|
NM_017780.4(CHD7):c.5308G>T (p.Asp1770Tyr)
|
|
|
|
NM_017780.4(CHD7):c.530C>G (p.Pro177Arg)
|
|
|
|
NM_017780.4(CHD7):c.530C>T (p.Pro177Leu)
|
|
|
|
NM_017780.4(CHD7):c.531C>T (p.Pro177=)
|
|
|
|
NM_017780.4(CHD7):c.5320C>A (p.Pro1774Thr)
|
|
|
|
NM_017780.4(CHD7):c.5327C>G (p.Pro1776Arg)
|
rs759486970
|
|
|
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala)
|
rs766416900
|
|
|
NM_017780.4(CHD7):c.5330T>G (p.Phe1777Cys)
|
|
|
|
NM_017780.4(CHD7):c.5330del (p.Phe1777fs)
|
rs1805335711
|
|
|
NM_017780.4(CHD7):c.5337T>C (p.Ala1779=)
|
|
|
|
NM_017780.4(CHD7):c.5340A>G (p.Glu1780=)
|
rs2150801685
|
|
|
NM_017780.4(CHD7):c.5345del (p.Pro1782fs)
|
rs2150801705
|
|
|
NM_017780.4(CHD7):c.534T>C (p.Pro178=)
|
|
|
|
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter)
|
rs1805338299
|
|
|
NM_017780.4(CHD7):c.5360A>T (p.Asp1787Val)
|
|
|
|
NM_017780.4(CHD7):c.5365G>A (p.Glu1789Lys)
|
|
|
|
NM_017780.4(CHD7):c.5366A>G (p.Glu1789Gly)
|
|
|
|
NM_017780.4(CHD7):c.5371G>A (p.Asp1791Asn)
|
rs1554603283
|
|
|
NM_017780.4(CHD7):c.5379C>T (p.Ser1793=)
|
|
|
|
NM_017780.4(CHD7):c.5382C>T (p.Leu1794=)
|
rs559748498
|
|
|
NM_017780.4(CHD7):c.5384T>C (p.Leu1795Ser)
|
|
|
|
NM_017780.4(CHD7):c.5387T>C (p.Ile1796Thr)
|
|
|
|
NM_017780.4(CHD7):c.5389G>A (p.Gly1797Arg)
|
rs1563656016
|
|
|
NM_017780.4(CHD7):c.5393T>A (p.Val1798Glu)
|
rs1805341017
|
|
|
NM_017780.4(CHD7):c.5393T>C (p.Val1798Ala)
|
|
|
|
NM_017780.4(CHD7):c.539A>G (p.Gln180Arg)
|
|
|
|
NM_017780.4(CHD7):c.53G>A (p.Ser18Asn)
|
rs1280305079
|
|
|
NM_017780.4(CHD7):c.5400A>T (p.Lys1800Asn)
|
|
|
|
NM_017780.4(CHD7):c.5401C>T (p.His1801Tyr)
|
rs1131692039
|
|
|
NM_017780.4(CHD7):c.5403T>C (p.His1801=)
|
|
|
|
NM_017780.4(CHD7):c.5404+10G>T
|
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|
NM_017780.4(CHD7):c.5404+14C>T
|
rs2150801886
|
|
|
NM_017780.4(CHD7):c.5404+15T>C
|
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|
NM_017780.4(CHD7):c.5404+2T>C
|
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|
NM_017780.4(CHD7):c.5405-17G>A
|
rs794727423
|
|
|
NM_017780.4(CHD7):c.5405-6G>A
|
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|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
|
NM_017780.4(CHD7):c.5405G>A (p.Gly1802Asp)
|
rs1805405695
|
|
|
NM_017780.4(CHD7):c.5414A>G (p.Lys1805Arg)
|
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|
|
NM_017780.4(CHD7):c.5414_5422dup (p.Ser1808Ter)
|
rs2150804625
|
|
|
NM_017780.4(CHD7):c.5420A>C (p.Asn1807Thr)
|
rs1001632406
|
|
|
NM_017780.4(CHD7):c.5420A>G (p.Asn1807Ser)
|
|
|
|
NM_017780.4(CHD7):c.5424C>T (p.Ser1808=)
|
|
|
|
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter)
|
rs1554603552
|
|
|
NM_017780.4(CHD7):c.542G>A (p.Gly181Asp)
|
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|
|
NM_017780.4(CHD7):c.5433T>C (p.Ala1811=)
|
|
|
|
NM_017780.4(CHD7):c.5437C>T (p.Pro1813Ser)
|
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|
NM_017780.4(CHD7):c.5446T>C (p.Cys1816Arg)
|
|
|
|
NM_017780.4(CHD7):c.5447G>C (p.Cys1816Ser)
|
|
|
|
NM_017780.4(CHD7):c.5452C>A (p.Leu1818Met)
|
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|
|
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter)
|
rs587783446
|
|
|
NM_017780.4(CHD7):c.5464G>A (p.Gly1822Ser)
|
|
|
|
NM_017780.4(CHD7):c.546C>G (p.His182Gln)
|
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|
|
NM_017780.4(CHD7):c.546C>T (p.His182=)
|
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|
|
NM_017780.4(CHD7):c.5479A>G (p.Lys1827Glu)
|
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|
NM_017780.4(CHD7):c.5499A>G (p.Gln1833=)
|
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|
|
NM_017780.4(CHD7):c.54T>C (p.Ser18=)
|
rs2150577330
|
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|
NM_017780.4(CHD7):c.5503G>A (p.Gly1835Arg)
|
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|
NM_017780.4(CHD7):c.5512A>G (p.Met1838Val)
|
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|
NM_017780.4(CHD7):c.5518G>C (p.Ala1840Pro)
|
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|
|
NM_017780.4(CHD7):c.5520A>G (p.Ala1840=)
|
rs2150804893
|
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NM_017780.4(CHD7):c.5527G>A (p.Gly1843Ser)
|
rs1563657571
|
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|
NM_017780.4(CHD7):c.552G>T (p.Gln184His)
|
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|
|
NM_017780.4(CHD7):c.5533G>C (p.Gly1845Arg)
|
rs753347128
|
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|
NM_017780.4(CHD7):c.5534+19A>C
|
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|
NM_017780.4(CHD7):c.5534G>A (p.Gly1845Glu)
|
|
|
|
NM_017780.4(CHD7):c.5535-11_5535-8del
|
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|
NM_017780.4(CHD7):c.5535-19T>C
|
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|
NM_017780.4(CHD7):c.5535-20T>C
|
rs1394659038
|
|
|
NM_017780.4(CHD7):c.5537G>T (p.Gly1846Val)
|
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|
|
NM_017780.4(CHD7):c.5547T>G (p.Asp1849Glu)
|
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|
|
NM_017780.4(CHD7):c.5553A>G (p.Glu1851=)
|
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|
NM_017780.4(CHD7):c.555C>A (p.His185Gln)
|
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|
NM_017780.4(CHD7):c.5568A>G (p.Glu1856=)
|
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|
|
NM_017780.4(CHD7):c.5569T>C (p.Tyr1857His)
|
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|
|
NM_017780.4(CHD7):c.5573A>T (p.Lys1858Ile)
|
|
|
|
NM_017780.4(CHD7):c.5574A>G (p.Lys1858=)
|
|
|
|
NM_017780.4(CHD7):c.5575C>A (p.Pro1859Thr)
|
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|
|
NM_017780.4(CHD7):c.5578A>G (p.Thr1860Ala)
|
|
|
|
NM_017780.4(CHD7):c.557T>C (p.Met186Thr)
|
|
|
|
NM_017780.4(CHD7):c.5585C>T (p.Thr1862Ile)
|
|
|
|
NM_017780.4(CHD7):c.5586A>G (p.Thr1862=)
|
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|
|
NM_017780.4(CHD7):c.5588C>A (p.Pro1863Gln)
|
rs753437069
|
|
|
NM_017780.4(CHD7):c.5588C>T (p.Pro1863Leu)
|
|
|
|
NM_017780.4(CHD7):c.5589G>T (p.Pro1863=)
|
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|
|
NM_017780.4(CHD7):c.5597A>G (p.Asp1866Gly)
|
rs2150805872
|
|
|
NM_017780.4(CHD7):c.5602A>G (p.Ile1868Val)
|
|
|
|
NM_017780.4(CHD7):c.5607+13G>A
|
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|
NM_017780.4(CHD7):c.5607+14T>C
|
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|
|
NM_017780.4(CHD7):c.5607+1G>A
|
rs1554603672
|
|
|
NM_017780.4(CHD7):c.5607+6A>G
|
|
|
|
NM_017780.4(CHD7):c.5607+7A>G
|
rs1805434580
|
|
|
NM_017780.4(CHD7):c.5608-10T>A
|
|
|
|
NM_017780.4(CHD7):c.5608-13C>G
|
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|
|
NM_017780.4(CHD7):c.5608-20T>A
|
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|
|
NM_017780.4(CHD7):c.5608-7T>G
|
|
|
|
NM_017780.4(CHD7):c.560A>G (p.Gln187Arg)
|
|
|
|
NM_017780.4(CHD7):c.5617A>G (p.Asn1873Asp)
|
rs1403279129
|
|
|
NM_017780.4(CHD7):c.5625T>G (p.Pro1875=)
|
|
|
|
NM_017780.4(CHD7):c.5633A>G (p.Asp1878Gly)
|
rs749861487
|
|
|
NM_017780.4(CHD7):c.5633A>T (p.Asp1878Val)
|
|
|
|
NM_017780.4(CHD7):c.5637G>A (p.Lys1879=)
|
|
|
|
NM_017780.4(CHD7):c.5638G>A (p.Glu1880Lys)
|
|
|
|
NM_017780.4(CHD7):c.5644T>C (p.Ser1882Pro)
|
|
|
|
NM_017780.4(CHD7):c.5647A>G (p.Met1883Val)
|
|
|
|
NM_017780.4(CHD7):c.5655del (p.His1886fs)
|
|
|
|
NM_017780.4(CHD7):c.565A>T (p.Met189Leu)
|
rs1809055199
|
|
|
NM_017780.4(CHD7):c.5661C>T (p.Ala1887=)
|
|
|
|
NM_017780.4(CHD7):c.5665+13A>G
|
rs2150806324
|
|
|
NM_017780.4(CHD7):c.5665+18C>G
|
|
|
|
NM_017780.4(CHD7):c.5665+1dup
|
rs2150806303
|
|
|
NM_017780.4(CHD7):c.5665+7T>C
|
|
|
|
NM_017780.4(CHD7):c.5666-13dup
|
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|
|
NM_017780.4(CHD7):c.5666-16T>G
|
|
|
|
NM_017780.4(CHD7):c.5666-18G>A
|
|
|
|
NM_017780.4(CHD7):c.5666-19T>C
|
rs1805474762
|
|
|
NM_017780.4(CHD7):c.5666-4C>T
|
|
|
|
NM_017780.4(CHD7):c.5666-5C>T
|
|
|
|
NM_017780.4(CHD7):c.5666G>A (p.Gly1889Asp)
|
rs1040512288
|
|
|
NM_017780.4(CHD7):c.5667C>G (p.Gly1889=)
|
|
|
|
NM_017780.4(CHD7):c.5689G>T (p.Glu1897Ter)
|
|
|
|
NM_017780.4(CHD7):c.5705A>G (p.Tyr1902Cys)
|
|
|
|
NM_017780.4(CHD7):c.5707T>C (p.Trp1903Arg)
|
|
|
|
NM_017780.4(CHD7):c.5708G>A (p.Trp1903Ter)
|
|
|
|
NM_017780.4(CHD7):c.5723C>A (p.Thr1908Asn)
|
|
|
|
NM_017780.4(CHD7):c.5725C>T (p.Leu1909=)
|
|
|
|
NM_017780.4(CHD7):c.5727G>A (p.Leu1909=)
|
rs2150807633
|
|
|
NM_017780.4(CHD7):c.5735G>T (p.Arg1912Leu)
|
|
|
|
NM_017780.4(CHD7):c.5743C>T (p.Arg1915Trp)
|
rs2150807703
|
|
|
NM_017780.4(CHD7):c.5745G>T (p.Arg1915=)
|
|
|
|
NM_017780.4(CHD7):c.5763G>A (p.Gln1921=)
|
rs2150807756
|
|
|
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His)
|
|
|
|
NM_017780.4(CHD7):c.5770T>C (p.Tyr1924His)
|
|
|
|
NM_017780.4(CHD7):c.5778G>A (p.Arg1926=)
|
|
|
|
NM_017780.4(CHD7):c.5784G>C (p.Gln1928His)
|
rs2150807812
|
|
|
NM_017780.4(CHD7):c.5796G>A (p.Glu1932=)
|
|
|
|
NM_017780.4(CHD7):c.5798C>A (p.Ala1933Asp)
|
rs773867024
|
|
|
NM_017780.4(CHD7):c.5798C>T (p.Ala1933Val)
|
|
|
|
NM_017780.4(CHD7):c.57A>C (p.Glu19Asp)
|
rs1809004250
|
|
|
NM_017780.4(CHD7):c.5803A>C (p.Met1935Leu)
|
|
|
|
NM_017780.4(CHD7):c.5814C>A (p.Asp1938Glu)
|
rs1805481811
|
|
|
NM_017780.4(CHD7):c.5815C>G (p.Arg1939Gly)
|
rs992024213
|
|
|
NM_017780.4(CHD7):c.5815C>T (p.Arg1939Trp)
|
|
|
|
NM_017780.4(CHD7):c.5816G>C (p.Arg1939Pro)
|
|
|
|
NM_017780.4(CHD7):c.5818C>G (p.Arg1940Gly)
|
rs752539596
|
|
|
NM_017780.4(CHD7):c.5825G>A (p.Arg1942Gln)
|
|
|
|
NM_017780.4(CHD7):c.5827C>T (p.Arg1943Trp)
|
|
|
|
NM_017780.4(CHD7):c.5831C>G (p.Pro1944Arg)
|
|
|
|
NM_017780.4(CHD7):c.5833C>A (p.Arg1945=)
|
rs757160222
|
|
|
NM_017780.4(CHD7):c.5833C>G (p.Arg1945Gly)
|
rs757160222
|
|
|
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter)
|
rs757160222
|
|
|
NM_017780.4(CHD7):c.5842G>A (p.Val1948Met)
|
|
|
|
NM_017780.4(CHD7):c.5853_5855del (p.Glu1952del)
|
|
|
|
NM_017780.4(CHD7):c.5856A>C (p.Glu1952Asp)
|
rs755290171
|
|
|
NM_017780.4(CHD7):c.5856A>T (p.Glu1952Asp)
|
|
|
|
NM_017780.4(CHD7):c.5869G>A (p.Ala1957Thr)
|
rs1586443930
|
|
|
NM_017780.4(CHD7):c.587G>A (p.Gly196Glu)
|
|
|
|
NM_017780.4(CHD7):c.5886G>A (p.Lys1962=)
|
|
|
|
NM_017780.4(CHD7):c.5887C>T (p.Arg1963Trp)
|
|
|
|
NM_017780.4(CHD7):c.5888G>A (p.Arg1963Gln)
|
|
|
|
NM_017780.4(CHD7):c.5888G>T (p.Arg1963Leu)
|
|
|
|
NM_017780.4(CHD7):c.588G>C (p.Gly196=)
|
|
|
|
NM_017780.4(CHD7):c.5894+14A>C
|
|
|
|
NM_017780.4(CHD7):c.5894+15G>T
|
|
|
|
NM_017780.4(CHD7):c.5894+5G>A
|
rs1805486327
|
|
|
NM_017780.4(CHD7):c.5895-18A>G
|
|
|
|
NM_017780.4(CHD7):c.5895-18_5895-17insGA
|
rs1805499097
|
|
|
NM_017780.4(CHD7):c.5895-2A>T
|
rs2150808631
|
|
|
NM_017780.4(CHD7):c.5895-5A>T
|
rs1805499680
|
|
|
NM_017780.4(CHD7):c.5895-8T>G
|
rs1220156630
|
|
|
NM_017780.4(CHD7):c.5897G>A (p.Trp1966Ter)
|
|
|
|
NM_017780.4(CHD7):c.5898G>A (p.Trp1966Ter)
|
rs2150808654
|
|
|
NM_017780.4(CHD7):c.5901A>G (p.Thr1967=)
|
|
|
|
NM_017780.4(CHD7):c.5906_5908del (p.Arg1969_Glu1970delinsLys)
|
|
|
|
NM_017780.4(CHD7):c.591T>C (p.Asp197=)
|
|
|
|
NM_017780.4(CHD7):c.5925C>T (p.Tyr1975=)
|
rs2150808715
|
|
|
NM_017780.4(CHD7):c.5926C>T (p.Arg1976Cys)
|
|
|
|
NM_017780.4(CHD7):c.5927G>A (p.Arg1976His)
|
|
|
|
NM_017780.4(CHD7):c.5931G>A (p.Val1977=)
|
|
|
|
NM_017780.4(CHD7):c.5932G>A (p.Val1978Ile)
|
|
|
|
NM_017780.4(CHD7):c.5932del (p.Val1978fs)
|
rs1805501026
|
|
|
NM_017780.4(CHD7):c.5939C>A (p.Thr1980Asn)
|
|
|
|
NM_017780.4(CHD7):c.5947G>A (p.Val1983Ile)
|
|
|
|
NM_017780.4(CHD7):c.5952T>G (p.Ile1984Met)
|
|
|
|
NM_017780.4(CHD7):c.5958C>T (p.Asp1986=)
|
|
|
|
NM_017780.4(CHD7):c.5961T>C (p.Pro1987=)
|
|
|
|
NM_017780.4(CHD7):c.5964G>C (p.Val1988=)
|
|
|
|
NM_017780.4(CHD7):c.5973A>G (p.Gln1991=)
|
rs768313777
|
|
|
NM_017780.4(CHD7):c.5979C>G (p.Asp1993Glu)
|
rs1805502860
|
|
|
NM_017780.4(CHD7):c.5985C>T (p.Asn1995=)
|
|
|
|
NM_017780.4(CHD7):c.5988A>G (p.Gln1996=)
|
rs2150808862
|
|
|
NM_017780.4(CHD7):c.5995G>A (p.Ala1999Thr)
|
rs1064794548
|
|
|
NM_017780.4(CHD7):c.6001G>A (p.Ala2001Thr)
|
|
|
|
NM_017780.4(CHD7):c.6014A>G (p.Lys2005Arg)
|
|
|
|
NM_017780.4(CHD7):c.6018A>G (p.Lys2006=)
|
|
|
|
NM_017780.4(CHD7):c.6026A>G (p.Glu2009Gly)
|
|
|
|
NM_017780.4(CHD7):c.6028A>G (p.Ser2010Gly)
|
|
|
|
NM_017780.4(CHD7):c.6033G>A (p.Leu2011=)
|
|
|
|
NM_017780.4(CHD7):c.6035A>T (p.Glu2012Val)
|
rs1805504949
|
|
|
NM_017780.4(CHD7):c.6042C>T (p.Tyr2014=)
|
|
|
|
NM_017780.4(CHD7):c.6043T>C (p.Phe2015Leu)
|
|
|
|
NM_017780.4(CHD7):c.604C>A (p.Gln202Lys)
|
|
|
|
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter)
|
rs1554581277
|
|
|
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter)
|
rs1360515765
|
|
|
NM_017780.4(CHD7):c.6071G>C (p.Arg2024Pro)
|
|
|
|
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
|
rs886040995
|
|
|
NM_017780.4(CHD7):c.6085C>A (p.Pro2029Thr)
|
rs1805506718
|
|
|
NM_017780.4(CHD7):c.6090C>A (p.Val2030=)
|
rs2150809096
|
|
|
NM_017780.4(CHD7):c.6103+19A>G
|
|
|
|
NM_017780.4(CHD7):c.6103+3A>G
|
|
|
|
NM_017780.4(CHD7):c.6104-11C>A
|
|
|
|
NM_017780.4(CHD7):c.6104-12del
|
|
|
|
NM_017780.4(CHD7):c.6104-2A>T
|
rs1805513214
|
|
|
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs)
|
rs1131691420
|
|
|
NM_017780.4(CHD7):c.6117C>A (p.Leu2039=)
|
|
|
|
NM_017780.4(CHD7):c.6118T>C (p.Ser2040Pro)
|
|
|
|
NM_017780.4(CHD7):c.6122C>T (p.Ser2041Phe)
|
|
|
|
NM_017780.4(CHD7):c.6124A>G (p.Ile2042Val)
|
|
|
|
NM_017780.4(CHD7):c.6134C>T (p.Pro2045Leu)
|
|
|
|
NM_017780.4(CHD7):c.6135G>T (p.Pro2045=)
|
rs6999971
|
|
|
NM_017780.4(CHD7):c.6138C>T (p.Ile2046=)
|
rs2150809518
|
|
|
NM_017780.4(CHD7):c.6147G>A (p.Glu2049=)
|
rs2150809533
|
|
|
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter)
|
rs886040996
|
|
|
NM_017780.4(CHD7):c.614A>C (p.Gln205Pro)
|
|
|
|
NM_017780.4(CHD7):c.6153C>T (p.Ala2051=)
|
rs759326626
|
|
|
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter)
|
rs587783450
|
|
|
NM_017780.4(CHD7):c.6158G>A (p.Arg2053Gln)
|
|
|
|
NM_017780.4(CHD7):c.6160A>G (p.Thr2054Ala)
|
rs2150809564
|
|
|
NM_017780.4(CHD7):c.6163_6164del (p.Leu2055fs)
|
rs1060503185
|
|
|
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs)
|
rs886039528
|
|
|
NM_017780.4(CHD7):c.6170G>A (p.Arg2057His)
|
|
|
|
NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val)
|
rs1302545775
|
|
|
NM_017780.4(CHD7):c.6180G>T (p.Leu2060=)
|
|
|
|
NM_017780.4(CHD7):c.6185G>A (p.Arg2062Gln)
|
|
|
|
NM_017780.4(CHD7):c.6190A>G (p.Ile2064Val)
|
|
|
|
NM_017780.4(CHD7):c.6193C>G (p.Arg2065Gly)
|
rs1064794250
|
|
|
NM_017780.4(CHD7):c.6196G>C (p.Glu2066Gln)
|
|
|
|
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter)
|
rs766862122
|
|
|
NM_017780.4(CHD7):c.6201G>A (p.Gln2067=)
|
|
|
|
NM_017780.4(CHD7):c.6217C>T (p.Gln2073Ter)
|
rs2150809777
|
|
|
NM_017780.4(CHD7):c.6219G>T (p.Gln2073His)
|
|
|
|
NM_017780.4(CHD7):c.6231G>A (p.Arg2077=)
|
rs1805526666
|
|
|
NM_017780.4(CHD7):c.6240C>G (p.Leu2080=)
|
|
|
|
NM_017780.4(CHD7):c.6242del (p.Cys2081fs)
|
|
|
|
NM_017780.4(CHD7):c.6251G>A (p.Ser2084Asn)
|
|
|
|
NM_017780.4(CHD7):c.6261G>A (p.Leu2087=)
|
|
|
|
NM_017780.4(CHD7):c.6273G>T (p.Trp2091Cys)
|
rs2150809927
|
|
|
NM_017780.4(CHD7):c.6282A>T (p.Gly2094=)
|
|
|
|
NM_017780.4(CHD7):c.6283C>T (p.Arg2095Trp)
|
|
|
|
NM_017780.4(CHD7):c.6285G>T (p.Arg2095=)
|
|
|
|
NM_017780.4(CHD7):c.6286C>T (p.His2096Tyr)
|
|
|
|
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)
|
rs587783451
|
|
|
NM_017780.4(CHD7):c.6305T>G (p.Val2102Gly)
|
|
|
|
NM_017780.4(CHD7):c.6308G>A (p.Gly2103Asp)
|
rs794727555
|
|
|
NM_017780.4(CHD7):c.630G>A (p.Met210Ile)
|
|
|
|
NM_017780.4(CHD7):c.630G>C (p.Met210Ile)
|
rs560742342
|
|
|
NM_017780.4(CHD7):c.6321C>A (p.His2107Gln)
|
|
|
|
NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg)
|
rs121434343
|
|
|
NM_017780.4(CHD7):c.6324G>A (p.Gly2108=)
|
|
|
|
NM_017780.4(CHD7):c.6327C>T (p.Val2109=)
|
rs2150810128
|
|
|
NM_017780.4(CHD7):c.6331C>T (p.Arg2111Trp)
|
|
|
|
NM_017780.4(CHD7):c.6332G>A (p.Arg2111Gln)
|
|
|
|
NM_017780.4(CHD7):c.6341A>G (p.Tyr2114Cys)
|
|
|
|
NM_017780.4(CHD7):c.6343C>T (p.His2115Tyr)
|
|
|
|
NM_017780.4(CHD7):c.6348C>G (p.Ile2116Met)
|
|
|
|
NM_017780.4(CHD7):c.6349C>G (p.Leu2117Val)
|
|
|
|
NM_017780.4(CHD7):c.634C>T (p.Gln212Ter)
|
rs2150578792
|
|
|
NM_017780.4(CHD7):c.6361_6363dup (p.Glu2121_Leu2122insGlu)
|
|
|
|
NM_017780.4(CHD7):c.6369C>T (p.Ser2123=)
|
|
|
|
NM_017780.4(CHD7):c.6369CTT[1] (p.Phe2124del)
|
|
|
|
NM_017780.4(CHD7):c.636G>T (p.Gln212His)
|
|
|
|
NM_017780.4(CHD7):c.6373T>C (p.Leu2125=)
|
|
|
|
NM_017780.4(CHD7):c.6376G>T (p.Asp2126Tyr)
|
rs1162346018
|
|
|
NM_017780.4(CHD7):c.6377A>G (p.Asp2126Gly)
|
|
|
|
NM_017780.4(CHD7):c.6379G>A (p.Ala2127Thr)
|
|
|
|
NM_017780.4(CHD7):c.6381A>G (p.Ala2127=)
|
|
|
|
NM_017780.4(CHD7):c.6383A>G (p.His2128Arg)
|
|
|
|
NM_017780.4(CHD7):c.6384T>G (p.His2128Gln)
|
|
|
|
NM_017780.4(CHD7):c.6392T>G (p.Phe2131Cys)
|
|
|
|
NM_017780.4(CHD7):c.6393T>C (p.Phe2131=)
|
rs2150810295
|
|
|
NM_017780.4(CHD7):c.6399A>G (p.Gln2133=)
|
|
|
|
NM_017780.4(CHD7):c.6401del (p.Asn2134fs)
|
rs1586446101
|
|
|
NM_017780.4(CHD7):c.6405A>T (p.Arg2135Ser)
|
|
|
|
NM_017780.4(CHD7):c.6412G>A (p.Gly2138Ser)
|
|
|
|
NM_017780.4(CHD7):c.6419C>T (p.Thr2140Ile)
|
|
|
|
NM_017780.4(CHD7):c.6431A>C (p.Asn2144Thr)
|
|
|
|
NM_017780.4(CHD7):c.6433C>T (p.Pro2145Ser)
|
|
|
|
NM_017780.4(CHD7):c.6435A>G (p.Pro2145=)
|
rs1402557358
|
|
|
NM_017780.4(CHD7):c.6436C>T (p.Leu2146=)
|
rs2150810421
|
|
|
NM_017780.4(CHD7):c.6439G>A (p.Ala2147Thr)
|
|
|
|
NM_017780.4(CHD7):c.6440C>G (p.Ala2147Gly)
|
rs966839733
|
|
|
NM_017780.4(CHD7):c.6446G>A (p.Gly2149Glu)
|
|
|
|
NM_017780.4(CHD7):c.6450T>A (p.Phe2150Leu)
|
|
|
|
NM_017780.4(CHD7):c.6456G>T (p.Gln2152His)
|
|
|
|
NM_017780.4(CHD7):c.6461C>T (p.Pro2154Leu)
|
rs1805544418
|
|
|
NM_017780.4(CHD7):c.6463C>T (p.Pro2155Ser)
|
rs1805544569
|
|
|
NM_017780.4(CHD7):c.6466G>A (p.Val2156Ile)
|
|
|
|
NM_017780.4(CHD7):c.6468C>G (p.Val2156=)
|
|
|
|
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter)
|
rs376056567
|
|
|
NM_017780.4(CHD7):c.6473del (p.Ser2158fs)
|
rs1563660938
|
|
|
NM_017780.4(CHD7):c.6475T>C (p.Ser2159Pro)
|
|
|
|
NM_017780.4(CHD7):c.6485T>C (p.Ile2162Thr)
|
|
|
|
NM_017780.4(CHD7):c.6485T>G (p.Ile2162Ser)
|
|
|
|
NM_017780.4(CHD7):c.6514G>A (p.Glu2172Lys)
|
|
|
|
NM_017780.4(CHD7):c.651A>G (p.Gln217=)
|
|
|
|
NM_017780.4(CHD7):c.6521A>G (p.Lys2174Arg)
|
|
|
|
NM_017780.4(CHD7):c.6531G>A (p.Glu2177=)
|
|
|
|
NM_017780.4(CHD7):c.6531dup (p.Pro2178fs)
|
rs2150810800
|
|
|
NM_017780.4(CHD7):c.6536A>G (p.Glu2179Gly)
|
rs1805551737
|
|
|
NM_017780.4(CHD7):c.6553_6554delinsTT (p.Glu2185Leu)
|
rs2150810874
|
|
|
NM_017780.4(CHD7):c.6565G>A (p.Gly2189Ser)
|
|
|
|
NM_017780.4(CHD7):c.6570A>G (p.Lys2190=)
|
|
|
|
NM_017780.4(CHD7):c.6588C>T (p.Thr2196=)
|
|
|
|
NM_017780.4(CHD7):c.6594C>T (p.Gly2198=)
|
|
|
|
NM_017780.4(CHD7):c.6597C>T (p.Ser2199=)
|
|
|
|
NM_017780.4(CHD7):c.6598G>T (p.Gly2200Trp)
|
|
|
|
NM_017780.4(CHD7):c.65A>G (p.Glu22Gly)
|
|
|
|
NM_017780.4(CHD7):c.6600G>A (p.Gly2200=)
|
rs2150811019
|
|
|
NM_017780.4(CHD7):c.6603G>A (p.Lys2201=)
|
rs1586446721
|
|
|
NM_017780.4(CHD7):c.6603G>C (p.Lys2201Asn)
|
|
|
|
NM_017780.4(CHD7):c.660C>T (p.Leu220=)
|
rs1177262261
|
|
|
NM_017780.4(CHD7):c.6615G>C (p.Gln2205His)
|
|
|
|
NM_017780.4(CHD7):c.661A>G (p.Asn221Asp)
|
rs979421697
|
|
|
NM_017780.4(CHD7):c.6620G>A (p.Cys2207Tyr)
|
|
|
|
NM_017780.4(CHD7):c.6631G>A (p.Ala2211Thr)
|
|
|
|
NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp)
|
rs1398262614
|
|
|
NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys)
|
|
|
|
NM_017780.4(CHD7):c.6639T>C (p.Ser2213=)
|
|
|
|
NM_017780.4(CHD7):c.6641_6642del (p.Val2214fs)
|
rs2150811163
|
|
|
NM_017780.4(CHD7):c.6653T>C (p.Leu2218Pro)
|
|
|
|
NM_017780.4(CHD7):c.665A>C (p.Gln222Pro)
|
|
|
|
NM_017780.4(CHD7):c.6672C>T (p.Gly2224=)
|
|
|
|
NM_017780.4(CHD7):c.6679A>G (p.Thr2227Ala)
|
|
|
|
NM_017780.4(CHD7):c.667G>T (p.Gly223Ter)
|
rs1809060881
|
|
|
NM_017780.4(CHD7):c.6681T>G (p.Thr2227=)
|
|
|
|
NM_017780.4(CHD7):c.6685T>C (p.Ser2229Pro)
|
rs1805566024
|
|
|
NM_017780.4(CHD7):c.6690A>G (p.Lys2230=)
|
|
|
|
NM_017780.4(CHD7):c.6692C>G (p.Ser2231Cys)
|
rs554415600
|
|
|
NM_017780.4(CHD7):c.6692C>T (p.Ser2231Phe)
|
|
|
|
NM_017780.4(CHD7):c.6693T>C (p.Ser2231=)
|
|
|
|
NM_017780.4(CHD7):c.669A>G (p.Gly223=)
|
|
|
|
NM_017780.4(CHD7):c.6704A>C (p.Lys2235Thr)
|
|
|
|
NM_017780.4(CHD7):c.6710C>A (p.Ser2237Tyr)
|
|
|
|
NM_017780.4(CHD7):c.671A>G (p.Asn224Ser)
|
rs1809061303
|
|
|
NM_017780.4(CHD7):c.6720T>G (p.Asp2240Glu)
|
rs1805568530
|
|
|
NM_017780.4(CHD7):c.6723A>G (p.Glu2241=)
|
|
|
|
NM_017780.4(CHD7):c.6730_6733dup (p.Leu2245fs)
|
rs2150811416
|
|
|
NM_017780.4(CHD7):c.6731A>G (p.Lys2244Arg)
|
|
|
|
NM_017780.4(CHD7):c.6732G>A (p.Lys2244=)
|
|
|
|
NM_017780.4(CHD7):c.6734T>A (p.Leu2245Gln)
|
rs2150811434
|
|
|
NM_017780.4(CHD7):c.6734T>C (p.Leu2245Pro)
|
|
|
|
NM_017780.4(CHD7):c.6737dup (p.Asp2247fs)
|
rs2150811446
|
|
|
NM_017780.4(CHD7):c.6740A>G (p.Asp2247Gly)
|
|
|
|
NM_017780.4(CHD7):c.6744C>A (p.Asp2248Glu)
|
|
|
|
NM_017780.4(CHD7):c.6744C>T (p.Asp2248=)
|
|
|
|
NM_017780.4(CHD7):c.6746A>G (p.Asp2249Gly)
|
|
|
|
NM_017780.4(CHD7):c.6749A>G (p.Lys2250Arg)
|
|
|
|
NM_017780.4(CHD7):c.674C>T (p.Pro225Leu)
|
|
|
|
NM_017780.4(CHD7):c.6752C>T (p.Ser2251Leu)
|
|
|
|
NM_017780.4(CHD7):c.6757G>T (p.Glu2253Ter)
|
rs1057517956
|
|
|
NM_017780.4(CHD7):c.6758A>G (p.Glu2253Gly)
|
rs1805571750
|
|
|
NM_017780.4(CHD7):c.6758A>T (p.Glu2253Val)
|
|
|
|
NM_017780.4(CHD7):c.6766C>G (p.Gln2256Glu)
|
|
|
|
NM_017780.4(CHD7):c.6770C>T (p.Pro2257Leu)
|
rs2150811546
|
|
|
NM_017780.4(CHD7):c.6771C>A (p.Pro2257=)
|
rs367615733
|
|
|
NM_017780.4(CHD7):c.6772G>A (p.Glu2258Lys)
|
|
|
|
NM_017780.4(CHD7):c.6775+14A>G
|
|
|
|
NM_017780.4(CHD7):c.6775+19C>T
|
|
|
|
NM_017780.4(CHD7):c.6775+1G>A
|
rs1805573066
|
|
|
NM_017780.4(CHD7):c.6775+1G>T
|
rs1805573066
|
|
|
NM_017780.4(CHD7):c.6776-12C>T
|
|
|
|
NM_017780.4(CHD7):c.6776-13A>G
|
rs2150813272
|
|
|
NM_017780.4(CHD7):c.6776-15T>G
|
|
|
|
NM_017780.4(CHD7):c.6776-1G>A
|
|
|
|
NM_017780.4(CHD7):c.6776-5C>A
|
|
|
|
NM_017780.4(CHD7):c.677T>A (p.Phe226Tyr)
|
|
|
|
NM_017780.4(CHD7):c.6780A>G (p.Gly2260=)
|
|
|
|
NM_017780.4(CHD7):c.6782C>A (p.Ala2261Asp)
|
|
|
|
NM_017780.4(CHD7):c.6784G>A (p.Val2262Ile)
|
|
|
|
NM_017780.4(CHD7):c.6784G>C (p.Val2262Leu)
|
|
|
|
NM_017780.4(CHD7):c.6791G>C (p.Arg2264Thr)
|
|
|
|
NM_017780.4(CHD7):c.6816C>T (p.Ser2272=)
|
|
|
|
NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs)
|
rs1805613575
|
|
|
NM_017780.4(CHD7):c.6818A>G (p.Asn2273Ser)
|
rs745361070
|
|
|
NM_017780.4(CHD7):c.6821C>T (p.Ala2274Val)
|
|
|
|
NM_017780.4(CHD7):c.6826A>G (p.Met2276Val)
|
|
|
|
NM_017780.4(CHD7):c.6826A>T (p.Met2276Leu)
|
|
|
|
NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn)
|
|
|
|
NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs)
|
rs1554604441
|
|
|
NM_017780.4(CHD7):c.6842A>T (p.Asp2281Val)
|
|
|
|
NM_017780.4(CHD7):c.6850C>G (p.Arg2284Gly)
|
rs587783454
|
|
|
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter)
|
rs587783454
|
|
|
NM_017780.4(CHD7):c.685A>C (p.Thr229Pro)
|
rs767816305
|
|
|
NM_017780.4(CHD7):c.6864C>T (p.Tyr2288=)
|
rs2150813513
|
|
|
NM_017780.4(CHD7):c.6865A>G (p.Met2289Val)
|
|
|
|
NM_017780.4(CHD7):c.686C>T (p.Thr229Ile)
|
|
|
|
NM_017780.4(CHD7):c.6873C>T (p.Asp2291=)
|
|
|
|
NM_017780.4(CHD7):c.6880C>A (p.Pro2294Thr)
|
rs767696409
|
|
|
NM_017780.4(CHD7):c.6880C>T (p.Pro2294Ser)
|
rs767696409
|
|
|
NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs)
|
rs1563662791
|
|
|
NM_017780.4(CHD7):c.6892C>G (p.Gln2298Glu)
|
rs1057518891
|
|
|
NM_017780.4(CHD7):c.6894G>C (p.Gln2298His)
|
|
|
|
NM_017780.4(CHD7):c.6894G>T (p.Gln2298His)
|
|
|
|
NM_017780.4(CHD7):c.6895C>A (p.Leu2299Ile)
|
|
|
|
NM_017780.4(CHD7):c.6898C>A (p.Leu2300Ile)
|
|
|
|
NM_017780.4(CHD7):c.689C>A (p.Ser230Ter)
|
rs1809062715
|
|
|
NM_017780.4(CHD7):c.6908G>A (p.Arg2303Lys)
|
|
|
|
NM_017780.4(CHD7):c.6908G>C (p.Arg2303Thr)
|
|
|
|
NM_017780.4(CHD7):c.690A>G (p.Ser230=)
|
rs926628835
|
|
|
NM_017780.4(CHD7):c.6913T>C (p.Phe2305Leu)
|
|
|
|
NM_017780.4(CHD7):c.6918C>G (p.Ala2306=)
|
|
|
|
NM_017780.4(CHD7):c.6921C>T (p.Phe2307=)
|
|
|
|
NM_017780.4(CHD7):c.6923C>T (p.Ser2308Leu)
|
|
|
|
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=)
|
rs61733338
|
|
|
NM_017780.4(CHD7):c.6924G>C (p.Ser2308=)
|
rs61733338
|
|
|
NM_017780.4(CHD7):c.692G>C (p.Gly231Ala)
|
|
|
|
NM_017780.4(CHD7):c.6933T>C (p.Pro2311=)
|
|
|
|
NM_017780.4(CHD7):c.6935A>G (p.Lys2312Arg)
|
rs2150813712
|
|
|
NM_017780.4(CHD7):c.6936+15_6936+18del
|
|
|
|
NM_017780.4(CHD7):c.6936+19C>T
|
|
|
|
NM_017780.4(CHD7):c.6936+2T>C
|
|
|
|
NM_017780.4(CHD7):c.6936+7A>T
|
|
|
|
NM_017780.4(CHD7):c.6936+9G>A
|
|
|
|
NM_017780.4(CHD7):c.6937-13C>T
|
|
|
|
NM_017780.4(CHD7):c.6937-19A>G
|
|
|
|
NM_017780.4(CHD7):c.6937-2A>G
|
rs1586451506
|
|
|
NM_017780.4(CHD7):c.6938A>G (p.Asp2313Gly)
|
rs1805682626
|
|
|
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)
|
rs121434341
|
|
|
NM_017780.4(CHD7):c.6962A>G (p.Asp2321Gly)
|
rs1427557686
|
|
|
NM_017780.4(CHD7):c.6981G>A (p.Val2327=)
|
|
|
|
NM_017780.4(CHD7):c.6981G>T (p.Val2327=)
|
|
|
|
NM_017780.4(CHD7):c.6989_6990delinsCT (p.Gly2330Ala)
|
rs1554604771
|
|
|
NM_017780.4(CHD7):c.6992A>G (p.Lys2331Arg)
|
|
|
|
NM_017780.4(CHD7):c.6993A>G (p.Lys2331=)
|
|
|
|
NM_017780.4(CHD7):c.6996G>T (p.Trp2332Cys)
|
rs2129642460
|
|
|
NM_017780.4(CHD7):c.699C>T (p.Gly233=)
|
rs2150578946
|
|
|
NM_017780.4(CHD7):c.6A>G (p.Ala2=)
|
rs1331575367
|
|
|
NM_017780.4(CHD7):c.7000G>C (p.Val2334Leu)
|
|
|
|
NM_017780.4(CHD7):c.7006A>C (p.Arg2336=)
|
|
|
|
NM_017780.4(CHD7):c.7007G>A (p.Arg2336Lys)
|
rs2129642540
|
|
|
NM_017780.4(CHD7):c.7010G>T (p.Arg2337Leu)
|
|
|
|
NM_017780.4(CHD7):c.7015A>G (p.Met2339Val)
|
rs1184188163
|
|
|
NM_017780.4(CHD7):c.7015A>T (p.Met2339Leu)
|
rs1184188163
|
|
|
NM_017780.4(CHD7):c.7038C>T (p.Ile2346=)
|
rs2129642777
|
|
|
NM_017780.4(CHD7):c.7043G>A (p.Gly2348Asp)
|
rs754527047
|
|
|
NM_017780.4(CHD7):c.7043G>C (p.Gly2348Ala)
|
|
|
|
NM_017780.4(CHD7):c.7045T>C (p.Tyr2349His)
|
|
|
|
NM_017780.4(CHD7):c.7048A>G (p.Thr2350Ala)
|
|
|
|
NM_017780.4(CHD7):c.7053C>T (p.Pro2351=)
|
|
|
|
NM_017780.4(CHD7):c.7062G>A (p.Val2354=)
|
|
|
|
NM_017780.4(CHD7):c.7065C>G (p.Asp2355Glu)
|
rs2129643081
|
|
|
NM_017780.4(CHD7):c.7070C>T (p.Pro2357Leu)
|
|
|
|
NM_017780.4(CHD7):c.7083G>A (p.Arg2361=)
|
rs1325869967
|
|
|
NM_017780.4(CHD7):c.7083G>T (p.Arg2361Ser)
|
|
|
|
NM_017780.4(CHD7):c.708C>T (p.Ser236=)
|
rs2150578971
|
|
|
NM_017780.4(CHD7):c.7090G>T (p.Ala2364Ser)
|
|
|
|
NM_017780.4(CHD7):c.7092T>C (p.Ala2364=)
|
rs2129643396
|
|
|
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro)
|
rs541818422
|
|
|
NM_017780.4(CHD7):c.7097_7098delinsAT (p.Leu2366His)
|
|
|
|
NM_017780.4(CHD7):c.7098C>T (p.Leu2366=)
|
|
|
|
NM_017780.4(CHD7):c.709C>T (p.His237Tyr)
|
|
|
|
NM_017780.4(CHD7):c.70C>T (p.Leu24Phe)
|
|
|
|
NM_017780.4(CHD7):c.7101C>T (p.Ser2367=)
|
|
|
|
NM_017780.4(CHD7):c.7102A>G (p.Met2368Val)
|
|
|
|
NM_017780.4(CHD7):c.7107C>A (p.Val2369=)
|
rs773674773
|
|
|
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser)
|
rs185940313
|
|
|
NM_017780.4(CHD7):c.7108G>C (p.Gly2370Arg)
|
|
|
|
NM_017780.4(CHD7):c.7109G>T (p.Gly2370Val)
|
rs531223140
|
|
|
NM_017780.4(CHD7):c.7122T>G (p.Ile2374Met)
|
|
|
|
NM_017780.4(CHD7):c.7127G>A (p.Gly2376Glu)
|
|
|
|
NM_017780.4(CHD7):c.7128G>A (p.Gly2376=)
|
|
|
|
NM_017780.4(CHD7):c.712G>C (p.Val238Leu)
|
|
|
|
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter)
|
rs878975068
|
|
|
NM_017780.4(CHD7):c.7144A>G (p.Thr2382Ala)
|
|
|
|
NM_017780.4(CHD7):c.7146G>T (p.Thr2382=)
|
|
|
|
NM_017780.4(CHD7):c.7150C>T (p.Pro2384Ser)
|
|
|
|
NM_017780.4(CHD7):c.7155G>A (p.Gln2385=)
|
rs867921812
|
|
|
NM_017780.4(CHD7):c.7157T>G (p.Leu2386Trp)
|
rs2129644202
|
|
|
NM_017780.4(CHD7):c.715C>T (p.Pro239Ser)
|
|
|
|
NM_017780.4(CHD7):c.7160C>G (p.Ser2387Ter)
|
rs2129644242
|
|
|
NM_017780.4(CHD7):c.7164+14G>C
|
|
|
|
NM_017780.4(CHD7):c.7164+16T>C
|
|
|
|
NM_017780.4(CHD7):c.7165-16T>C
|
|
|
|
NM_017780.4(CHD7):c.7165-18G>A
|
|
|
|
NM_017780.4(CHD7):c.7165-3T>C
|
|
|
|
NM_017780.4(CHD7):c.7171G>T (p.Ala2391Ser)
|
|
|
|
NM_017780.4(CHD7):c.7173C>T (p.Ala2391=)
|
rs545381857
|
|
|
NM_017780.4(CHD7):c.7180C>T (p.Leu2394Phe)
|
rs1168283468
|
|
|
NM_017780.4(CHD7):c.7184C>G (p.Ser2395Cys)
|
|
|
|
NM_017780.4(CHD7):c.718del (p.Gln240fs)
|
rs1563560493
|
|
|
NM_017780.4(CHD7):c.7192C>T (p.Arg2398Cys)
|
|
|
|
NM_017780.4(CHD7):c.7193G>A (p.Arg2398His)
|
|
|
|
NM_017780.4(CHD7):c.719A>G (p.Gln240Arg)
|
rs2150579002
|
|
|
NM_017780.4(CHD7):c.7200GAG[4] (p.Arg2405del)
|
rs374380640
|
|
|
NM_017780.4(CHD7):c.7200GAG[6] (p.Arg2405_Lys2406insArg)
|
|
|
|
NM_017780.4(CHD7):c.7201A>T (p.Arg2401Trp)
|
rs1805714852
|
|
|
NM_017780.4(CHD7):c.7214G>A (p.Arg2405Lys)
|
|
|
|
NM_017780.4(CHD7):c.722A>G (p.Gln241Arg)
|
|
|
|
NM_017780.4(CHD7):c.7233C>A (p.Ala2411=)
|
|
|
|
NM_017780.4(CHD7):c.7238_7239delinsTT (p.Arg2413Ile)
|
|
|
|
NM_017780.4(CHD7):c.723G>C (p.Gln241His)
|
|
|
|
NM_017780.4(CHD7):c.7240_7241delinsTT (p.Ala2414Phe)
|
rs1805719418
|
|
|
NM_017780.4(CHD7):c.7245C>T (p.Ala2415=)
|
|
|
|
NM_017780.4(CHD7):c.7250G>A (p.Arg2417Lys)
|
rs776169011
|
|
|
NM_017780.4(CHD7):c.7250G>C (p.Arg2417Thr)
|
|
|
|
NM_017780.4(CHD7):c.7250G>T (p.Arg2417Met)
|
|
|
|
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)
|
rs587783455
|
|
|
NM_017780.4(CHD7):c.7256A>G (p.Asn2419Ser)
|
rs1805721790
|
|
|
NM_017780.4(CHD7):c.7258del (p.Leu2420fs)
|
|
|
|
NM_017780.4(CHD7):c.7262del (p.Met2421fs)
|
|
|
|
NM_017780.4(CHD7):c.7267A>G (p.Met2423Val)
|
rs1293236067
|
|
|
NM_017780.4(CHD7):c.7269G>A (p.Met2423Ile)
|
rs2129648356
|
|
|
NM_017780.4(CHD7):c.7278G>C (p.Gln2426His)
|
|
|
|
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter)
|
rs1320897198
|
|
|
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter)
|
rs773047607
|
|
|
NM_017780.4(CHD7):c.7286_7287del (p.Glu2429fs)
|
rs1805724910
|
|
|
NM_017780.4(CHD7):c.7297G>A (p.Val2433Ile)
|
rs766091347
|
|
|
NM_017780.4(CHD7):c.72C>G (p.Leu24=)
|
rs267601960
|
|
|
NM_017780.4(CHD7):c.72C>T (p.Leu24=)
|
rs267601960
|
|
|
NM_017780.4(CHD7):c.7301C>G (p.Ser2434Ter)
|
|
|
|
NM_017780.4(CHD7):c.7307A>G (p.Asn2436Ser)
|
|
|
|
NM_017780.4(CHD7):c.7308T>A (p.Asn2436Lys)
|
|
|
|
NM_017780.4(CHD7):c.7310G>A (p.Gly2437Glu)
|
|
|
|
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu)
|
rs1060503188
|
|
|
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter)
|
rs1060503188
|
|
|
NM_017780.4(CHD7):c.7313A>G (p.Gln2438Arg)
|
|
|
|
NM_017780.4(CHD7):c.7320A>G (p.Lys2440=)
|
|
|
|
NM_017780.4(CHD7):c.7327G>A (p.Asp2443Asn)
|
|
|
|
NM_017780.4(CHD7):c.7328A>G (p.Asp2443Gly)
|
rs2129649399
|
|
|
NM_017780.4(CHD7):c.732C>G (p.Ser244Arg)
|
rs779776551
|
|
|
NM_017780.4(CHD7):c.732C>T (p.Ser244=)
|
|
|
|
NM_017780.4(CHD7):c.7338G>T (p.Lys2446Asn)
|
|
|
|
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs)
|
rs1586453267
|
|
|
NM_017780.4(CHD7):c.7355C>A (p.Thr2452Lys)
|
|
|
|
NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs)
|
rs1586453329
|
|
|
NM_017780.4(CHD7):c.7357A>G (p.Ser2453Gly)
|
|
|
|
NM_017780.4(CHD7):c.7363A>G (p.Thr2455Ala)
|
|
|
|
NM_017780.4(CHD7):c.7377A>G (p.Ser2459=)
|
|
|
|
NM_017780.4(CHD7):c.7390_7419del (p.Lys2464_Pro2473del)
|
rs2129650387
|
|
|
NM_017780.4(CHD7):c.7391A>G (p.Lys2464Arg)
|
|
|
|
NM_017780.4(CHD7):c.7394T>G (p.Phe2465Cys)
|
|
|
|
NM_017780.4(CHD7):c.739C>T (p.Pro247Ser)
|
|
|
|
NM_017780.4(CHD7):c.7401G>T (p.Leu2467Phe)
|
|
|
|
NM_017780.4(CHD7):c.7428T>C (p.Asp2476=)
|
rs886038636
|
|
|
NM_017780.4(CHD7):c.7429G>T (p.Ala2477Ser)
|
|
|
|
NM_017780.4(CHD7):c.7434T>G (p.Phe2478Leu)
|
rs2129651052
|
|
|
NM_017780.4(CHD7):c.7436_7437insATTAA (p.Thr2480fs)
|
|
|
|
NM_017780.4(CHD7):c.7443A>C (p.Gln2481His)
|
|
|
|
NM_017780.4(CHD7):c.7444A>G (p.Met2482Val)
|
|
|
|
NM_017780.4(CHD7):c.7446G>A (p.Met2482Ile)
|
|
|
|
NM_017780.4(CHD7):c.7447G>A (p.Glu2483Lys)
|
rs398124323
|
|
|
NM_017780.4(CHD7):c.7455C>T (p.Leu2485=)
|
|
|
|
NM_017780.4(CHD7):c.7458A>G (p.Gln2486=)
|
rs2129651419
|
|
|
NM_017780.4(CHD7):c.7460C>T (p.Ala2487Val)
|
rs1349434680
|
|
|
NM_017780.4(CHD7):c.7468T>C (p.Ser2490Pro)
|
rs1319276265
|
|
|
NM_017780.4(CHD7):c.7469C>G (p.Ser2490Trp)
|
rs371595770
|
|
|
NM_017780.4(CHD7):c.746T>C (p.Leu249Ser)
|
|
|
|
NM_017780.4(CHD7):c.7470G>A (p.Ser2490=)
|
|
|
|
NM_017780.4(CHD7):c.7470G>C (p.Ser2490=)
|
rs780608336
|
|
|
NM_017780.4(CHD7):c.7471C>A (p.Arg2491Ser)
|
|
|
|
NM_017780.4(CHD7):c.7471C>T (p.Arg2491Cys)
|
|
|
|
NM_017780.4(CHD7):c.7477C>T (p.Pro2493Ser)
|
|
|
|
NM_017780.4(CHD7):c.747G>A (p.Leu249=)
|
|
|
|
NM_017780.4(CHD7):c.7488T>C (p.His2496=)
|
rs995534410
|
|
|
NM_017780.4(CHD7):c.7490T>C (p.Leu2497Pro)
|
|
|
|
NM_017780.4(CHD7):c.7491C>G (p.Leu2497=)
|
|
|
|
NM_017780.4(CHD7):c.7497T>C (p.Asn2499=)
|
rs1026956983
|
|
|
NM_017780.4(CHD7):c.7499G>T (p.Gly2500Val)
|
|
|
|
NM_017780.4(CHD7):c.749G>A (p.Arg250His)
|
|
|
|
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)
|
rs1805737676
|
|
|
NM_017780.4(CHD7):c.7516G>C (p.Glu2506Gln)
|
rs1805738026
|
|
|
NM_017780.4(CHD7):c.7518G>A (p.Glu2506=)
|
|
|
|
NM_017780.4(CHD7):c.7522C>T (p.Pro2508Ser)
|
rs1805738363
|
|
|
NM_017780.4(CHD7):c.7530G>A (p.Lys2510=)
|
rs1563665717
|
|
|
NM_017780.4(CHD7):c.7543A>G (p.Arg2515Gly)
|
rs1805740102
|
|
|
NM_017780.4(CHD7):c.7569T>C (p.Asp2523=)
|
|
|
|
NM_017780.4(CHD7):c.756G>T (p.Ser252=)
|
|
|
|
NM_017780.4(CHD7):c.7585del (p.His2529fs)
|
rs2129653634
|
|
|
NM_017780.4(CHD7):c.7586A>G (p.His2529Arg)
|
|
|
|
NM_017780.4(CHD7):c.7592G>A (p.Arg2531Gln)
|
|
|
|
NM_017780.4(CHD7):c.7600T>C (p.Leu2534=)
|
|
|
|
NM_017780.4(CHD7):c.7601T>C (p.Leu2534Ser)
|
|
|
|
NM_017780.4(CHD7):c.7608+7dup
|
|
|
|
NM_017780.4(CHD7):c.7608+8G>A
|
|
|
|
NM_017780.4(CHD7):c.7608+9G>T
|
rs2129654194
|
|
|
NM_017780.4(CHD7):c.7609-12A>C
|
|
|
|
NM_017780.4(CHD7):c.7609-18A>G
|
|
|
|
NM_017780.4(CHD7):c.7609-7T>C
|
rs745569961
|
|
|
NM_017780.4(CHD7):c.760C>G (p.Gln254Glu)
|
rs1554581354
|
|
|
NM_017780.4(CHD7):c.7612G>A (p.Asp2538Asn)
|
|
|
|
NM_017780.4(CHD7):c.7613A>G (p.Asp2538Gly)
|
|
|
|
NM_017780.4(CHD7):c.7616C>T (p.Ala2539Val)
|
|
|
|
NM_017780.4(CHD7):c.7620G>A (p.Glu2540=)
|
rs2129702757
|
|
|
NM_017780.4(CHD7):c.762G>A (p.Gln254=)
|
rs2150579148
|
|
|
NM_017780.4(CHD7):c.7631C>T (p.Ala2544Val)
|
|
|
|
NM_017780.4(CHD7):c.7633T>G (p.Phe2545Val)
|
|
|
|
NM_017780.4(CHD7):c.7634T>C (p.Phe2545Ser)
|
rs1805939500
|
|
|
NM_017780.4(CHD7):c.7650G>A (p.Glu2550=)
|
rs1173503101
|
|
|
NM_017780.4(CHD7):c.7657C>T (p.Pro2553Ser)
|
|
|
|
NM_017780.4(CHD7):c.7663del (p.Arg2555fs)
|
rs863224843
|
|
|
NM_017780.4(CHD7):c.7664G>A (p.Arg2555Lys)
|
|
|
|
NM_017780.4(CHD7):c.7669A>G (p.Ile2557Val)
|
|
|
|
NM_017780.4(CHD7):c.7672C>T (p.Pro2558Ser)
|
|
|
|
NM_017780.4(CHD7):c.7674T>G (p.Pro2558=)
|
|
|
|
NM_017780.4(CHD7):c.767T>A (p.Phe256Tyr)
|
rs2150579155
|
|
|
NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter)
|
rs774255090
|
|
|
NM_017780.4(CHD7):c.7682G>A (p.Gly2561Glu)
|
rs1046787337
|
|
|
NM_017780.4(CHD7):c.7683A>G (p.Gly2561=)
|
|
|
|
NM_017780.4(CHD7):c.7684C>T (p.Gln2562Ter)
|
rs1563669203
|
|
|
NM_017780.4(CHD7):c.7687C>G (p.Leu2563Val)
|
|
|
|
NM_017780.4(CHD7):c.7692C>T (p.Asp2564=)
|
|
|
|
NM_017780.4(CHD7):c.7703G>A (p.Arg2568Gln)
|
|
|
|
NM_017780.4(CHD7):c.7706T>C (p.Ile2569Thr)
|
|
|
|
NM_017780.4(CHD7):c.770A>G (p.His257Arg)
|
|
|
|
NM_017780.4(CHD7):c.7710del (p.Val2571fs)
|
rs2129704530
|
|
|
NM_017780.4(CHD7):c.7711G>A (p.Val2571Ile)
|
rs2129704568
|
|
|
NM_017780.4(CHD7):c.7713T>C (p.Val2571=)
|
|
|
|
NM_017780.4(CHD7):c.7714A>G (p.Ile2572Val)
|
|
|
|
NM_017780.4(CHD7):c.7715T>C (p.Ile2572Thr)
|
|
|
|
NM_017780.4(CHD7):c.7716C>G (p.Ile2572Met)
|
|
|
|
NM_017780.4(CHD7):c.7717A>G (p.Asn2573Asp)
|
|
|
|
NM_017780.4(CHD7):c.772C>G (p.His258Asp)
|
|
|
|
NM_017780.4(CHD7):c.7737G>T (p.Arg2579Ser)
|
|
|
|
NM_017780.4(CHD7):c.7743G>A (p.Val2581=)
|
|
|
|
NM_017780.4(CHD7):c.7743G>C (p.Val2581=)
|
|
|
|
NM_017780.4(CHD7):c.7745G>A (p.Gly2582Glu)
|
rs1408626113
|
|
|
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser)
|
rs1554606033
|
|
|
NM_017780.4(CHD7):c.7767G>A (p.Lys2589=)
|
rs2129705530
|
|
|
NM_017780.4(CHD7):c.7768G>A (p.Asp2590Asn)
|
|
|
|
NM_017780.4(CHD7):c.7776del (p.Glu2593fs)
|
|
|
|
NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter)
|
rs748126701
|
|
|
NM_017780.4(CHD7):c.778C>A (p.Pro260Thr)
|
|
|
|
NM_017780.4(CHD7):c.7795C>T (p.Pro2599Ser)
|
rs1805948281
|
|
|
NM_017780.4(CHD7):c.7797T>A (p.Pro2599=)
|
|
|
|
NM_017780.4(CHD7):c.7798A>G (p.Thr2600Ala)
|
|
|
|
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
|
|
|
|
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
|
rs1563669432
|
|
|
NM_017780.4(CHD7):c.7804A>C (p.Thr2602Pro)
|
|
|
|
NM_017780.4(CHD7):c.7804A>G (p.Thr2602Ala)
|
|
|
|
NM_017780.4(CHD7):c.7807G>A (p.Val2603Ile)
|
|
|
|
NM_017780.4(CHD7):c.780C>T (p.Pro260=)
|
rs2150579200
|
|
|
NM_017780.4(CHD7):c.7810G>C (p.Asp2604His)
|
|
|
|
NM_017780.4(CHD7):c.7821T>C (p.Ser2607=)
|
|
|
|
NM_017780.4(CHD7):c.7824T>A (p.Tyr2608Ter)
|
|
|
|
NM_017780.4(CHD7):c.7824T>C (p.Tyr2608=)
|
|
|
|
NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter)
|
rs1586460329
|
|
|
NM_017780.4(CHD7):c.7830+18T>C
|
|
|
|
NM_017780.4(CHD7):c.7830+20G>A
|
|
|
|
NM_017780.4(CHD7):c.7830+5G>A
|
|
|
|
NM_017780.4(CHD7):c.7830+6T>G
|
|
|
|
NM_017780.4(CHD7):c.7830+8T>C
|
|
|
|
NM_017780.4(CHD7):c.7831-12T>C
|
|
|
|
NM_017780.4(CHD7):c.7831-14T>C
|
|
|
|
NM_017780.4(CHD7):c.7831-17T>C
|
rs777041721
|
|
|
NM_017780.4(CHD7):c.7831-18A>G
|
|
|
|
NM_017780.4(CHD7):c.7831-20A>G
|
|
|
|
NM_017780.4(CHD7):c.7831-5T>C
|
rs770131922
|
|
|
NM_017780.4(CHD7):c.7834A>C (p.Asn2612His)
|
|
|
|
NM_017780.4(CHD7):c.7840_7841dup (p.Asp2614fs)
|
|
|
|
NM_017780.4(CHD7):c.7844T>C (p.Val2615Ala)
|
rs1586462216
|
|
|
NM_017780.4(CHD7):c.7849T>C (p.Phe2617Leu)
|
|
|
|
NM_017780.4(CHD7):c.784A>G (p.Thr262Ala)
|
|
|
|
NM_017780.4(CHD7):c.7855T>C (p.Ser2619Pro)
|
|
|
|
NM_017780.4(CHD7):c.7866A>C (p.Lys2622Asn)
|
rs1586462281
|
|
|
NM_017780.4(CHD7):c.7869G>A (p.Pro2623=)
|
rs1338609969
|
|
|
NM_017780.4(CHD7):c.786T>C (p.Thr262=)
|
|
|
|
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)
|
rs1064793346
|
|
|
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)
|
rs587783457
|
|
|
NM_017780.4(CHD7):c.7892G>A (p.Arg2631Gln)
|
|
|
|
NM_017780.4(CHD7):c.789T>A (p.Ala263=)
|
|
|
|
NM_017780.4(CHD7):c.789T>C (p.Ala263=)
|
|
|
|
NM_017780.4(CHD7):c.7900A>G (p.Asn2634Asp)
|
|
|
|
NM_017780.4(CHD7):c.7913_7914del (p.Ile2638fs)
|
|
|
|
NM_017780.4(CHD7):c.7914A>C (p.Ile2638=)
|
|
|
|
NM_017780.4(CHD7):c.7925C>T (p.Thr2642Ile)
|
|
|
|
NM_017780.4(CHD7):c.7930_7934del (p.Glu2644fs)
|
|
|
|
NM_017780.4(CHD7):c.7936dup (p.Arg2646fs)
|
rs2129721609
|
|
|
NM_017780.4(CHD7):c.7938G>C (p.Arg2646Ser)
|
|
|
|
NM_017780.4(CHD7):c.7940T>C (p.Val2647Ala)
|
|
|
|
NM_017780.4(CHD7):c.7956del (p.Lys2652fs)
|
rs2129721740
|
|
|
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)
|
rs587783458
|
|
|
NM_017780.4(CHD7):c.7959A>C (p.Arg2653=)
|
|
|
|
NM_017780.4(CHD7):c.7960A>C (p.Asn2654His)
|
|
|
|
NM_017780.4(CHD7):c.7971+11G>A
|
rs2129722219
|
|
|
NM_017780.4(CHD7):c.7971+15A>G
|
|
|
|
NM_017780.4(CHD7):c.7971+17G>A
|
|
|
|
NM_017780.4(CHD7):c.7971+17G>T
|
|
|
|
NM_017780.4(CHD7):c.7971+1G>T
|
rs1554606274
|
|
|
NM_017780.4(CHD7):c.7971+6C>G
|
rs769103057
|
|
|
NM_017780.4(CHD7):c.7971+6C>T
|
rs769103057
|
|
|
NM_017780.4(CHD7):c.7971+8C>T
|
rs1295446479
|
|
|
NM_017780.4(CHD7):c.7972-8C>T
|
|
|
|
NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs)
|
rs1806048148
|
|
|
NM_017780.4(CHD7):c.7988C>T (p.Ala2663Val)
|
|
|
|
NM_017780.4(CHD7):c.7993C>G (p.Pro2665Ala)
|
|
|
|
NM_017780.4(CHD7):c.7996A>G (p.Met2666Val)
|
rs2129725268
|
|
|
NM_017780.4(CHD7):c.7G>A (p.Asp3Asn)
|
|
|
|
NM_017780.4(CHD7):c.8004T>C (p.Asp2668=)
|
|
|
|
NM_017780.4(CHD7):c.8004T>G (p.Asp2668Glu)
|
|
|
|
NM_017780.4(CHD7):c.800A>G (p.Glu267Gly)
|
|
|
|
NM_017780.4(CHD7):c.8013G>A (p.Arg2671=)
|
|
|
|
NM_017780.4(CHD7):c.8020G>A (p.Glu2674Lys)
|
rs1586462940
|
|
|
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter)
|
rs748504264
|
|
|
NM_017780.4(CHD7):c.8045C>A (p.Ala2682Asp)
|
|
|
|
NM_017780.4(CHD7):c.8047C>G (p.Pro2683Ala)
|
|
|
|
NM_017780.4(CHD7):c.8049del (p.Asp2684fs)
|
rs1586463029
|
|
|
NM_017780.4(CHD7):c.8056A>G (p.Thr2686Ala)
|
|
|
|
NM_017780.4(CHD7):c.8060A>G (p.Asp2687Gly)
|
|
|
|
NM_017780.4(CHD7):c.8067del (p.Lys2690fs)
|
rs1554606375
|
|
|
NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs)
|
rs1806054045
|
|
|
NM_017780.4(CHD7):c.8076+10A>G
|
|
|
|
NM_017780.4(CHD7):c.8076+14G>A
|
rs1251720838
|
|
|
NM_017780.4(CHD7):c.8076+14G>T
|
|
|
|
NM_017780.4(CHD7):c.8076+16A>G
|
rs1236099189
|
|
|
NM_017780.4(CHD7):c.8076+6T>C
|
|
|
|
NM_017780.4(CHD7):c.8077-10T>C
|
|
|
|
NM_017780.4(CHD7):c.8077-12C>T
|
|
|
|
NM_017780.4(CHD7):c.8077-17C>T
|
|
|
|
NM_017780.4(CHD7):c.8077-1G>C
|
rs1586466948
|
|
|
NM_017780.4(CHD7):c.8077-2A>G
|
rs1806173195
|
|
|
NM_017780.4(CHD7):c.8077G>A (p.Gly2693Ser)
|
rs1563673201
|
|
|
NM_017780.4(CHD7):c.8077G>C (p.Gly2693Arg)
|
rs1563673201
|
|
|
NM_017780.4(CHD7):c.8093C>T (p.Ser2698Leu)
|
|
|
|
NM_017780.4(CHD7):c.8094G>A (p.Ser2698=)
|
|
|
|
NM_017780.4(CHD7):c.8104C>T (p.Arg2702Cys)
|
rs1373315351
|
|
|
NM_017780.4(CHD7):c.8105G>A (p.Arg2702His)
|
rs1563673267
|
|
|
NM_017780.4(CHD7):c.8105G>T (p.Arg2702Leu)
|
|
|
|
NM_017780.4(CHD7):c.8105dup (p.Leu2703fs)
|
|
|
|
NM_017780.4(CHD7):c.8118G>A (p.Gly2706=)
|
rs952299853
|
|
|
NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile)
|
|
|
|
NM_017780.4(CHD7):c.8126T>C (p.Val2709Ala)
|
rs1806175791
|
|
|
NM_017780.4(CHD7):c.8131G>A (p.Gly2711Arg)
|
|
|
|
NM_017780.4(CHD7):c.8131G>C (p.Gly2711Arg)
|
rs1418830724
|
|
|
NM_017780.4(CHD7):c.8138G>A (p.Gly2713Glu)
|
|
|
|
NM_017780.4(CHD7):c.813C>G (p.His271Gln)
|
|
|
|
NM_017780.4(CHD7):c.8142G>A (p.Ala2714=)
|
|
|
|
NM_017780.4(CHD7):c.8146A>G (p.Arg2716Gly)
|
|
|
|
NM_017780.4(CHD7):c.8149A>C (p.Arg2717=)
|
rs2129757721
|
|
|
NM_017780.4(CHD7):c.814A>C (p.Ser272Arg)
|
|
|
|
NM_017780.4(CHD7):c.8164A>C (p.Lys2722Gln)
|
rs1586467143
|
|
|
NM_017780.4(CHD7):c.8164A>G (p.Lys2722Glu)
|
rs1586467143
|
|
|
NM_017780.4(CHD7):c.8173A>G (p.Ile2725Val)
|
rs113877656
|
|
|
NM_017780.4(CHD7):c.8175C>T (p.Ile2725=)
|
|
|
|
NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr)
|
|
|
|
NM_017780.4(CHD7):c.8176G>T (p.Ala2726Ser)
|
|
|
|
NM_017780.4(CHD7):c.8177C>T (p.Ala2726Val)
|
|
|
|
NM_017780.4(CHD7):c.8178C>T (p.Ala2726=)
|
rs2129758283
|
|
|
NM_017780.4(CHD7):c.8181A>G (p.Arg2727=)
|
|
|
|
NM_017780.4(CHD7):c.8184A>C (p.Ala2728=)
|
|
|
|
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=)
|
rs1806178855
|
|
|
NM_017780.4(CHD7):c.8189C>A (p.Ala2730Glu)
|
rs779381935
|
|
|
NM_017780.4(CHD7):c.8189C>T (p.Ala2730Val)
|
rs779381935
|
|
|
NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr)
|
|
|
|
NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr)
|
rs1806179701
|
|
|
NM_017780.4(CHD7):c.8199T>C (p.Ala2733=)
|
rs878855033
|
|
|
NM_017780.4(CHD7):c.81T>C (p.Cys27=)
|
|
|
|
NM_017780.4(CHD7):c.8202T>C (p.Ala2734=)
|
|
|
|
NM_017780.4(CHD7):c.8208C>T (p.Ala2736=)
|
rs1346132011
|
|
|
NM_017780.4(CHD7):c.8209T>A (p.Ser2737Thr)
|
|
|
|
NM_017780.4(CHD7):c.8223C>T (p.Ile2741=)
|
|
|
|
NM_017780.4(CHD7):c.8224A>C (p.Asn2742His)
|
|
|
|
NM_017780.4(CHD7):c.8228C>G (p.Pro2743Arg)
|
|
|
|
NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser)
|
rs1806181643
|
|
|
NM_017780.4(CHD7):c.8236G>A (p.Val2746Met)
|
|
|
|
NM_017780.4(CHD7):c.8240A>G (p.Asn2747Ser)
|
rs1586467380
|
|
|
NM_017780.4(CHD7):c.8244C>G (p.Ser2748Arg)
|
|
|
|
NM_017780.4(CHD7):c.8249T>C (p.Phe2750Ser)
|
|
|
|
NM_017780.4(CHD7):c.8255G>T (p.Gly2752Val)
|
|
|
|
NM_017780.4(CHD7):c.8262C>G (p.Asp2754Glu)
|
rs1369699481
|
|
|
NM_017780.4(CHD7):c.8262C>T (p.Asp2754=)
|
|
|
|
NM_017780.4(CHD7):c.8267C>T (p.Thr2756Met)
|
|
|
|
NM_017780.4(CHD7):c.8274T>C (p.Leu2758=)
|
rs903775787
|
|
|
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1])
|
rs747665912
|
|
|
NM_017780.4(CHD7):c.8278AATCTCCAG[3] (p.2760NLQ[3])
|
rs747665912
|
|
|
NM_017780.4(CHD7):c.8283C>T (p.Leu2761=)
|
|
|
|
NM_017780.4(CHD7):c.8284C>G (p.Gln2762Glu)
|
rs1286287151
|
|
|
NM_017780.4(CHD7):c.8286G>T (p.Gln2762His)
|
rs758898311
|
|
|
NM_017780.4(CHD7):c.8292C>G (p.Leu2764=)
|
rs1196717284
|
|
|
NM_017780.4(CHD7):c.829C>G (p.Pro277Ala)
|
|
|
|
NM_017780.4(CHD7):c.8304G>C (p.Gln2768His)
|
|
|
|
NM_017780.4(CHD7):c.8307G>A (p.Leu2769=)
|
|
|
|
NM_017780.4(CHD7):c.8308G>A (p.Ala2770Thr)
|
|
|
|
NM_017780.4(CHD7):c.830C>T (p.Pro277Leu)
|
|
|
|
NM_017780.4(CHD7):c.8310A>G (p.Ala2770=)
|
|
|
|
NM_017780.4(CHD7):c.8314C>T (p.Leu2772Phe)
|
|
|
|
NM_017780.4(CHD7):c.8317A>G (p.Met2773Val)
|
|
|
|
NM_017780.4(CHD7):c.8318T>C (p.Met2773Thr)
|
|
|
|
NM_017780.4(CHD7):c.831G>A (p.Pro277=)
|
rs775415630
|
|
|
NM_017780.4(CHD7):c.831G>C (p.Pro277=)
|
rs775415630
|
|
|
NM_017780.4(CHD7):c.831G>T (p.Pro277=)
|
rs775415630
|
|
|
NM_017780.4(CHD7):c.8320G>A (p.Gly2774Ser)
|
|
|
|
NM_017780.4(CHD7):c.8324T>C (p.Phe2775Ser)
|
|
|
|
NM_017780.4(CHD7):c.8326C>T (p.Pro2776Ser)
|
rs773045619
|
|
|
NM_017780.4(CHD7):c.8332G>A (p.Gly2778Arg)
|
rs1586467620
|
|
|
NM_017780.4(CHD7):c.8352C>T (p.Thr2784=)
|
|
|
|
NM_017780.4(CHD7):c.8359G>A (p.Gly2787Ser)
|
|
|
|
NM_017780.4(CHD7):c.8360del (p.Gly2787fs)
|
rs2129761877
|
|
|
NM_017780.4(CHD7):c.8362G>A (p.Asp2788Asn)
|
|
|
|
NM_017780.4(CHD7):c.8368A>G (p.Lys2790Glu)
|
|
|
|
NM_017780.4(CHD7):c.8383G>A (p.Val2795Met)
|
|
|
|
NM_017780.4(CHD7):c.838C>T (p.Pro280Ser)
|
|
|
|
NM_017780.4(CHD7):c.8391C>G (p.Pro2797=)
|
|
|
|
NM_017780.4(CHD7):c.8391C>T (p.Pro2797=)
|
|
|
|
NM_017780.4(CHD7):c.83G>A (p.Gly28Asp)
|
rs1809007164
|
|
|
NM_017780.4(CHD7):c.8407A>G (p.Met2803Val)
|
rs2129762926
|
|
|
NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val)
|
rs770781688
|
|
|
NM_017780.4(CHD7):c.8413G>T (p.Gly2805Cys)
|
rs759567393
|
|
|
NM_017780.4(CHD7):c.8414G>T (p.Gly2805Val)
|
|
|
|
NM_017780.4(CHD7):c.8416del (p.Leu2806fs)
|
|
|
|
NM_017780.4(CHD7):c.841C>T (p.Gln281Ter)
|
rs2150579361
|
|
|
NM_017780.4(CHD7):c.8421C>T (p.Pro2807=)
|
|
|
|
NM_017780.4(CHD7):c.8423A>C (p.Asn2808Thr)
|
rs368224943
|
|
|
NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe)
|
rs755563758
|
|
|
NM_017780.4(CHD7):c.8439C>G (p.Gly2813=)
|
|
|
|
NM_017780.4(CHD7):c.8442G>A (p.Gly2814=)
|
|
|
|
NM_017780.4(CHD7):c.8454C>A (p.Asn2818Lys)
|
|
|
|
NM_017780.4(CHD7):c.8454C>T (p.Asn2818=)
|
|
|
|
NM_017780.4(CHD7):c.8467G>T (p.Ala2823Ser)
|
|
|
|
NM_017780.4(CHD7):c.8468C>T (p.Ala2823Val)
|
|
|
|
NM_017780.4(CHD7):c.8474G>T (p.Gly2825Val)
|
|
|
|
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser)
|
rs370129047
|
|
|
NM_017780.4(CHD7):c.8479A>C (p.Thr2827Pro)
|
rs1373512004
|
|
|
NM_017780.4(CHD7):c.847G>A (p.Gly283Arg)
|
|
|
|
NM_017780.4(CHD7):c.8481C>T (p.Thr2827=)
|
rs1249032872
|
|
|
NM_017780.4(CHD7):c.8482A>G (p.Thr2828Ala)
|
|
|
|
NM_017780.4(CHD7):c.8483C>G (p.Thr2828Ser)
|
|
|
|
NM_017780.4(CHD7):c.8488G>A (p.Ala2830Thr)
|
rs533600930
|
|
|
NM_017780.4(CHD7):c.8492C>G (p.Ser2831Cys)
|
rs1399809223
|
|
|
NM_017780.4(CHD7):c.8500G>A (p.Gly2834Arg)
|
|
|
|
NM_017780.4(CHD7):c.8510A>G (p.Glu2837Gly)
|
|
|
|
NM_017780.4(CHD7):c.8516G>A (p.Ser2839Asn)
|
|
|
|
NM_017780.4(CHD7):c.852T>C (p.Ala284=)
|
|
|
|
NM_017780.4(CHD7):c.8538_8549dup (p.Lys2846_Glu2849dup)
|
rs2129765422
|
|
|
NM_017780.4(CHD7):c.853G>A (p.Val285Ile)
|
|
|
|
NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs)
|
rs1563674316
|
|
|
NM_017780.4(CHD7):c.854T>C (p.Val285Ala)
|
|
|
|
NM_017780.4(CHD7):c.8550T>G (p.Asn2850Lys)
|
|
|
|
NM_017780.4(CHD7):c.8553A>G (p.Glu2851=)
|
rs2129765778
|
|
|
NM_017780.4(CHD7):c.8554G>A (p.Asp2852Asn)
|
|
|
|
NM_017780.4(CHD7):c.8569T>G (p.Ser2857Ala)
|
|
|
|
NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer)
|
|
|
|
NM_017780.4(CHD7):c.8571T>C (p.Ser2857=)
|
|
|
|
NM_017780.4(CHD7):c.8574G>A (p.Glu2858=)
|
rs1806203830
|
|
|
NM_017780.4(CHD7):c.8579G>A (p.Ser2860Asn)
|
rs2129766206
|
|
|
NM_017780.4(CHD7):c.8590G>C (p.Val2864Leu)
|
|
|
|
NM_017780.4(CHD7):c.8599G>A (p.Ala2867Thr)
|
rs2129766536
|
|
|
NM_017780.4(CHD7):c.8609C>T (p.Ala2870Val)
|
|
|
|
NM_017780.4(CHD7):c.8610G>C (p.Ala2870=)
|
|
|
|
NM_017780.4(CHD7):c.8610G>T (p.Ala2870=)
|
rs375459176
|
|
|
NM_017780.4(CHD7):c.8614G>A (p.Gly2872Arg)
|
|
|
|
NM_017780.4(CHD7):c.8615G>C (p.Gly2872Ala)
|
|
|
|
NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs)
|
rs1586468521
|
|
|
NM_017780.4(CHD7):c.8620G>T (p.Val2874Phe)
|
|
|
|
NM_017780.4(CHD7):c.862C>A (p.Gln288Lys)
|
rs1554581399
|
|
|
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter)
|
rs1554581399
|
|
|
NM_017780.4(CHD7):c.8640G>A (p.Pro2880=)
|
rs374937585
|
|
|
NM_017780.4(CHD7):c.8640G>T (p.Pro2880=)
|
rs374937585
|
|
|
NM_017780.4(CHD7):c.8645G>A (p.Gly2882Glu)
|
|
|
|
NM_017780.4(CHD7):c.8645G>T (p.Gly2882Val)
|
rs2129767368
|
|
|
NM_017780.4(CHD7):c.8646A>T (p.Gly2882=)
|
rs1586468596
|
|
|
NM_017780.4(CHD7):c.8656A>G (p.Asn2886Asp)
|
|
|
|
NM_017780.4(CHD7):c.8662C>T (p.Leu2888=)
|
rs1017895981
|
|
|
NM_017780.4(CHD7):c.8664A>G (p.Leu2888=)
|
|
|
|
NM_017780.4(CHD7):c.8672A>C (p.Asn2891Thr)
|
rs202039728
|
|
|
NM_017780.4(CHD7):c.8672A>T (p.Asn2891Ile)
|
rs202039728
|
|
|
NM_017780.4(CHD7):c.867C>A (p.Thr289=)
|
|
|
|
NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs)
|
rs1563674576
|
|
|
NM_017780.4(CHD7):c.868C>G (p.Leu290Val)
|
|
|
|
NM_017780.4(CHD7):c.8694G>A (p.Met2898Ile)
|
rs2129768305
|
|
|
NM_017780.4(CHD7):c.8699C>A (p.Pro2900Gln)
|
rs780993039
|
|
|
NM_017780.4(CHD7):c.8699C>T (p.Pro2900Leu)
|
|
|
|
NM_017780.4(CHD7):c.8700G>A (p.Pro2900=)
|
|
|
|
NM_017780.4(CHD7):c.8702del (p.Gly2901fs)
|
|
|
|
NM_017780.4(CHD7):c.870T>G (p.Leu290=)
|
|
|
|
NM_017780.4(CHD7):c.8713C>T (p.Pro2905Ser)
|
|
|
|
NM_017780.4(CHD7):c.8739G>C (p.Leu2913=)
|
rs746128427
|
|
|
NM_017780.4(CHD7):c.8739G>T (p.Leu2913=)
|
|
|
|
NM_017780.4(CHD7):c.8743G>A (p.Gly2915Arg)
|
rs1586468892
|
|
|
NM_017780.4(CHD7):c.8744G>T (p.Gly2915Val)
|
|
|
|
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs)
|
rs1554607313
|
|
|
NM_017780.4(CHD7):c.8752C>T (p.Leu2918=)
|
rs1465616826
|
|
|
NM_017780.4(CHD7):c.8774C>T (p.Ala2925Val)
|
rs1563674763
|
|
|
NM_017780.4(CHD7):c.8775A>C (p.Ala2925=)
|
|
|
|
NM_017780.4(CHD7):c.8776G>A (p.Gly2926Arg)
|
rs1806214950
|
|
|
NM_017780.4(CHD7):c.8786A>G (p.Asn2929Ser)
|
rs1586469053
|
|
|
NM_017780.4(CHD7):c.878G>A (p.Ser293Asn)
|
rs1809079469
|
|
|
NM_017780.4(CHD7):c.8791G>C (p.Val2931Leu)
|
|
|
|
NM_017780.4(CHD7):c.8796C>G (p.Gly2932=)
|
|
|
|
NM_017780.4(CHD7):c.8800A>G (p.Ser2934Gly)
|
rs1024326558
|
|
|
NM_017780.4(CHD7):c.8800A>T (p.Ser2934Cys)
|
|
|
|
NM_017780.4(CHD7):c.8804A>T (p.Glu2935Val)
|
|
|
|
NM_017780.4(CHD7):c.8805A>G (p.Glu2935=)
|
rs1563674855
|
|
|
NM_017780.4(CHD7):c.8818G>A (p.Asp2940Asn)
|
|
|
|
NM_017780.4(CHD7):c.881C>G (p.Ser294Cys)
|
|
|
|
NM_017780.4(CHD7):c.8823G>A (p.Lys2941=)
|
|
|
|
NM_017780.4(CHD7):c.8834G>A (p.Gly2945Glu)
|
|
|
|
NM_017780.4(CHD7):c.8835A>T (p.Gly2945=)
|
|
|
|
NM_017780.4(CHD7):c.8836C>A (p.Pro2946Thr)
|
|
|
|
NM_017780.4(CHD7):c.8836C>T (p.Pro2946Ser)
|
|
|
|
NM_017780.4(CHD7):c.8837C>A (p.Pro2946His)
|
|
|
|
NM_017780.4(CHD7):c.8837C>T (p.Pro2946Leu)
|
|
|
|
NM_017780.4(CHD7):c.8842A>G (p.Lys2948Glu)
|
rs1467824778
|
|
|
NM_017780.4(CHD7):c.8846A>T (p.Asp2949Val)
|
|
|
|
NM_017780.4(CHD7):c.8847T>C (p.Asp2949=)
|
|
|
|
NM_017780.4(CHD7):c.8864G>A (p.Gly2955Asp)
|
|
|
|
NM_017780.4(CHD7):c.8866A>G (p.Ser2956Gly)
|
|
|
|
NM_017780.4(CHD7):c.8869G>A (p.Asp2957Asn)
|
|
|
|
NM_017780.4(CHD7):c.8871T>C (p.Asp2957=)
|
|
|
|
NM_017780.4(CHD7):c.8873C>T (p.Ala2958Val)
|
rs2129771571
|
|
|
NM_017780.4(CHD7):c.8875G>A (p.Glu2959Lys)
|
|
|
|
NM_017780.4(CHD7):c.8879_8881dup (p.Glu2960_Ser2961insLys)
|
|
|
|
NM_017780.4(CHD7):c.8883C>T (p.Ser2961=)
|
|
|
|
NM_017780.4(CHD7):c.889C>T (p.Gln297Ter)
|
rs1586249808
|
|
|
NM_017780.4(CHD7):c.8908C>G (p.Leu2970Val)
|
|
|
|
NM_017780.4(CHD7):c.8910C>G (p.Leu2970=)
|
|
|
|
NM_017780.4(CHD7):c.8920G>A (p.Glu2974Lys)
|
|
|
|
NM_017780.4(CHD7):c.892A>C (p.Thr298Pro)
|
|
|
|
NM_017780.4(CHD7):c.892A>G (p.Thr298Ala)
|
rs886063033
|
|
|
NM_017780.4(CHD7):c.8933G>A (p.Gly2978Asp)
|
|
|
|
NM_017780.4(CHD7):c.8933G>C (p.Gly2978Ala)
|
|
|
|
NM_017780.4(CHD7):c.8933G>T (p.Gly2978Val)
|
|
|
|
NM_017780.4(CHD7):c.8948C>T (p.Ser2983Leu)
|
|
|
|
NM_017780.4(CHD7):c.8949A>G (p.Ser2983=)
|
|
|
|
NM_017780.4(CHD7):c.8949_8957del (p.Leu2984_Gly2986del)
|
|
|
|
NM_017780.4(CHD7):c.8953G>T (p.Asp2985Tyr)
|
|
|
|
NM_017780.4(CHD7):c.8955T>G (p.Asp2985Glu)
|
|
|
|
NM_017780.4(CHD7):c.8955dup (p.Gly2986fs)
|
|
|
|
NM_017780.4(CHD7):c.8957G>A (p.Gly2986Glu)
|
|
|
|
NM_017780.4(CHD7):c.8957G>T (p.Gly2986Val)
|
rs374004489
|
|
|
NM_017780.4(CHD7):c.8958G>A (p.Gly2986=)
|
|
|
|
NM_017780.4(CHD7):c.895G>T (p.Val299Phe)
|
|
|
|
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)
|
rs771806027
|
|
|
NM_017780.4(CHD7):c.8964T>A (p.Asp2988Glu)
|
|
|
|
NM_017780.4(CHD7):c.8976C>T (p.Asn2992=)
|
|
|
|
NM_017780.4(CHD7):c.8979T>G (p.Asn2993Lys)
|
|
|
|
NM_017780.4(CHD7):c.897C>T (p.Val299=)
|
|
|
|
NM_017780.4(CHD7):c.8984A>G (p.Asn2995Ser)
|
|
|
|
NM_017780.4(CHD7):c.901T>C (p.Ser301Pro)
|
|
|
|
NM_017780.4(CHD7):c.902C>T (p.Ser301Phe)
|
|
|
|
NM_017780.4(CHD7):c.907A>G (p.Thr303Ala)
|
|
|
|
NM_017780.4(CHD7):c.91G>T (p.Glu31Ter)
|
|
|
|
NM_017780.4(CHD7):c.920C>G (p.Ser307Ter)
|
|
|
|
NM_017780.4(CHD7):c.924G>T (p.Gly308=)
|
|
|
|
NM_017780.4(CHD7):c.925C>A (p.Gln309Lys)
|
|
|
|
NM_017780.4(CHD7):c.926A>G (p.Gln309Arg)
|
|
|
|
NM_017780.4(CHD7):c.927_928del (p.Tyr310fs)
|
|
|
|
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter)
|
rs886041166
|
|
|
NM_017780.4(CHD7):c.935G>C (p.Arg312Pro)
|
|
|
|
NM_017780.4(CHD7):c.939T>C (p.Tyr313=)
|
|
|
|
NM_017780.4(CHD7):c.940C>A (p.Pro314Thr)
|
|
|
|
NM_017780.4(CHD7):c.944A>G (p.Tyr315Cys)
|
|
|
|
NM_017780.4(CHD7):c.950A>T (p.Asn317Ile)
|
|
|
|
NM_017780.4(CHD7):c.951C>T (p.Asn317=)
|
rs770785044
|
|
|
NM_017780.4(CHD7):c.967G>A (p.Val323Ile)
|
|
|
|
NM_017780.4(CHD7):c.972C>A (p.Asn324Lys)
|
|
|
|
NM_017780.4(CHD7):c.973A>C (p.Asn325His)
|
rs1563561089
|
|
|
NM_017780.4(CHD7):c.980G>A (p.Gly327Glu)
|
rs1809088428
|
|
|
NM_017780.4(CHD7):c.982A>T (p.Met328Leu)
|
rs747112804
|
|
|
NM_017780.4(CHD7):c.988C>A (p.Gln330Lys)
|
|
|
|
NM_017780.4(CHD7):c.996A>G (p.Leu332=)
|
|
|
|
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg)
|
rs757392008
|
|
|
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu)
|
rs775730406
|
|
|
NM_022455.5(NSD1):c.1414C>T (p.Leu472Phe)
|
rs371775975
|
|
|
NM_022455.5(NSD1):c.1654del (p.Ser552fs)
|
rs1060501497
|
|
|
NM_022455.5(NSD1):c.1664C>T (p.Ala555Val)
|
rs925398929
|
|
|
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter)
|
rs1763225156
|
|
|
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs)
|
rs1581319715
|
|
|
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs)
|
rs1554189490
|
|
|
NM_022455.5(NSD1):c.2334dup (p.His779fs)
|
rs1554189512
|
|
|
NM_022455.5(NSD1):c.2416A>G (p.Ile806Val)
|
rs1562208925
|
|
|
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs)
|
rs1060501490
|
|
|
NM_022455.5(NSD1):c.2674del (p.Ser892fs)
|
rs2149846018
|
|
|
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
|
rs587784095
|
|
|
NM_022455.5(NSD1):c.3238G>A (p.Gly1080Ser)
|
|
|
|
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)
|
rs587784101
|
|
|
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer)
|
rs1554190214
|
|
|
NM_022455.5(NSD1):c.3422del (p.Met1141fs)
|
rs1554190247
|
|
|
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs)
|
rs878855075
|
|
|
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile)
|
rs797044760
|
|
|
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs)
|
rs1562213553
|
|
|
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
|
rs587784104
|
|
|
NM_022455.5(NSD1):c.3682G>C (p.Asp1228His)
|
rs1161564727
|
|
|
NM_022455.5(NSD1):c.3869A>C (p.Gln1290Pro)
|
rs1562242250
|
|
|
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs)
|
rs1554195840
|
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
|
NM_022455.5(NSD1):c.4428T>A (p.His1476Gln)
|
rs1581430053
|
|
|
NM_022455.5(NSD1):c.4583C>T (p.Ser1528Phe)
|
rs1581433960
|
|
|
NM_022455.5(NSD1):c.4645T>G (p.Cys1549Gly)
|
rs1562259810
|
|
|
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
|
rs1756522180
|
|
|
NM_022455.5(NSD1):c.4970G>A (p.Arg1657Gln)
|
rs1756860552
|
|
|
NM_022455.5(NSD1):c.4988G>A (p.Arg1663His)
|
rs1562269357
|
|
|
NM_022455.5(NSD1):c.5146+2dup
|
rs1581468671
|
|
|
NM_022455.5(NSD1):c.524C>T (p.Thr175Ile)
|
rs1554167548
|
|
|
NM_022455.5(NSD1):c.5304-1G>C
|
rs863224905
|
|
|
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
|
rs587784148
|
|
|
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs)
|
rs1554202205
|
|
|
NM_022455.5(NSD1):c.5445C>G (p.Tyr1815Ter)
|
rs1757804086
|
|
|
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr)
|
rs1554204110
|
|
|
NM_022455.5(NSD1):c.5994del (p.Met1998fs)
|
rs878855077
|
|
|
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs)
|
rs1554204923
|
|
|
NM_022455.5(NSD1):c.6037G>A (p.Gly2013Arg)
|
rs2127262871
|
|
|
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
|
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg)
|
rs2127263172
|
|
|
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)
|
rs587784191
|
|
|
NM_022455.5(NSD1):c.6370T>G (p.Cys2124Gly)
|
rs1562305665
|
|
|
NM_022455.5(NSD1):c.6391dup (p.Val2131fs)
|
rs2127276417
|
|
|
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr)
|
rs587784205
|
|
|
NM_022455.5(NSD1):c.8018C>G (p.Pro2673Arg)
|
rs1554208207
|
|
|
NM_022455.5(NSD1):c.880_881del (p.Glu294fs)
|
rs1060501492
|
|
|
NM_022455.5(NSD1):c.928-8G>C
|
rs1761722744
|
|
|
NM_080647.1(TBX1):c.-4_6del (p.Met1fs)
|
|
|
|
NM_080647.1(TBX1):c.15C>T (p.Thr5=)
|
rs764497467
|
|
|
NM_080647.1(TBX1):c.21C>G (p.Thr7=)
|
|
|
|
NM_080647.1(TBX1):c.28A>G (p.Met10Val)
|
rs1936578247
|
|
|
NM_080647.1(TBX1):c.34+12G>A
|
|
|
|
NM_080647.1(TBX1):c.34+17T>A
|
|
|
|
NM_080647.1(TBX1):c.34+18G>C
|
|
|
|
NM_080647.1(TBX1):c.34+2T>A
|
|
|
|
NM_080647.1(TBX1):c.3G>A (p.Met1Ile)
|
|
|
|
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)
|
rs2145836461
|
|
|
NM_181523.3(PIK3R1):c.*1del (p.Ter725=)
|
rs1747800027
|
|
|
NM_181523.3(PIK3R1):c.1016C>T (p.Ser339Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.1017G>C (p.Ser339=)
|
rs781406681
|
|
|
NM_181523.3(PIK3R1):c.1019+16C>G
|
|
|
|
NM_181523.3(PIK3R1):c.1019+19C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1019+5_1019+7del
|
|
|
|
NM_181523.3(PIK3R1):c.1020G>A (p.Arg340=)
|
|
|
|
NM_181523.3(PIK3R1):c.1029G>A (p.Val343=)
|
rs1747485112
|
|
|
NM_181523.3(PIK3R1):c.102A>G (p.Lys34=)
|
|
|
|
NM_181523.3(PIK3R1):c.1042C>G (p.Arg348Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.104G>C (p.Gly35Ala)
|
rs1017086766
|
|
|
NM_181523.3(PIK3R1):c.104_105delinsAC (p.Gly35Asp)
|
|
|
|
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)
|
|
|
|
NM_181523.3(PIK3R1):c.1057G>A (p.Gly353Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.105G>A (p.Gly35=)
|
|
|
|
NM_181523.3(PIK3R1):c.1061C>G (p.Thr354Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.1072C>T (p.Arg358Ter)
|
|
|
|
NM_181523.3(PIK3R1):c.1092G>A (p.Met364Ile)
|
|
|
|
NM_181523.3(PIK3R1):c.1096G>A (p.Gly366Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.1118+11del
|
|
|
|
NM_181523.3(PIK3R1):c.1119-13A>T
|
|
|
|
NM_181523.3(PIK3R1):c.1156C>T (p.Arg386Ter)
|
|
|
|
NM_181523.3(PIK3R1):c.1180G>T (p.Asp394Tyr)
|
|
|
|
NM_181523.3(PIK3R1):c.1185A>T (p.Pro395=)
|
|
|
|
NM_181523.3(PIK3R1):c.119T>C (p.Leu40Pro)
|
rs2111964134
|
|
|
NM_181523.3(PIK3R1):c.1202T>C (p.Val401Ala)
|
|
|
|
NM_181523.3(PIK3R1):c.1216A>C (p.Asn406His)
|
|
|
|
NM_181523.3(PIK3R1):c.1218C>T (p.Asn406=)
|
|
|
|
NM_181523.3(PIK3R1):c.1224C>T (p.Tyr408=)
|
|
|
|
NM_181523.3(PIK3R1):c.1258T>G (p.Leu420Val)
|
|
|
|
NM_181523.3(PIK3R1):c.1260G>A (p.Leu420=)
|
rs1747501345
|
|
|
NM_181523.3(PIK3R1):c.1273C>A (p.Leu425Ile)
|
rs1001616209
|
|
|
NM_181523.3(PIK3R1):c.1273C>T (p.Leu425Phe)
|
rs1001616209
|
|
|
NM_181523.3(PIK3R1):c.1289A>C (p.Lys430Thr)
|
rs188617536
|
|
|
NM_181523.3(PIK3R1):c.1289A>G (p.Lys430Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.1299+4A>G
|
|
|
|
NM_181523.3(PIK3R1):c.1299+9_1299+19del
|
|
|
|
NM_181523.3(PIK3R1):c.1300-10A>C
|
rs377666209
|
|
|
NM_181523.3(PIK3R1):c.1300-13T>G
|
|
|
|
NM_181523.3(PIK3R1):c.1300-15T>A
|
rs750356306
|
|
|
NM_181523.3(PIK3R1):c.1300-15T>C
|
|
|
|
NM_181523.3(PIK3R1):c.1300-2A>G
|
rs1403833564
|
|
|
NM_181523.3(PIK3R1):c.1300-5_1320del
|
rs2112261986
|
|
|
NM_181523.3(PIK3R1):c.1300-9T>C
|
|
|
|
NM_181523.3(PIK3R1):c.1306_1313del (p.Val436fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1314_1317del (p.Glu439fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1319A>G (p.Asp440Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)
|
rs1289537429
|
|
|
NM_181523.3(PIK3R1):c.1344dup (p.Leu449fs)
|
rs1289537429
|
|
|
NM_181523.3(PIK3R1):c.1349A>G (p.His450Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.1350_1360del (p.Glu451fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1356T>C (p.Tyr452=)
|
|
|
|
NM_181523.3(PIK3R1):c.1359C>T (p.Asn453=)
|
|
|
|
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)
|
rs1057519838
|
|
|
NM_181523.3(PIK3R1):c.1396T>C (p.Leu466=)
|
rs754454562
|
|
|
NM_181523.3(PIK3R1):c.1407A>C (p.Glu469Asp)
|
rs747844946
|
|
|
NM_181523.3(PIK3R1):c.1415G>A (p.Arg472His)
|
|
|
|
NM_181523.3(PIK3R1):c.1422C>T (p.Ser474=)
|
|
|
|
NM_181523.3(PIK3R1):c.1425+11T>A
|
|
|
|
NM_181523.3(PIK3R1):c.1425+12A>G
|
rs370702392
|
|
|
NM_181523.3(PIK3R1):c.1425+19T>C
|
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>C
|
rs587777709
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>T
|
rs587777709
|
|
|
NM_181523.3(PIK3R1):c.1425+2T>A
|
rs1554051075
|
|
|
NM_181523.3(PIK3R1):c.1434A>G (p.Gln478=)
|
|
|
|
NM_181523.3(PIK3R1):c.1462A>G (p.Asn488Asp)
|
rs1747587410
|
|
|
NM_181523.3(PIK3R1):c.1464T>C (p.Asn488=)
|
|
|
|
NM_181523.3(PIK3R1):c.1470C>T (p.Thr490=)
|
|
|
|
NM_181523.3(PIK3R1):c.1508G>T (p.Arg503Leu)
|
rs765178503
|
|
|
NM_181523.3(PIK3R1):c.150T>C (p.Pro50=)
|
|
|
|
NM_181523.3(PIK3R1):c.1512C>T (p.Tyr504=)
|
rs1483544920
|
|
|
NM_181523.3(PIK3R1):c.151G>A (p.Glu51Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.1524C>T (p.Tyr508=)
|
|
|
|
NM_181523.3(PIK3R1):c.1526T>C (p.Ile509Thr)
|
|
|
|
NM_181523.3(PIK3R1):c.1539_1547del (p.Lys513_Gly516delinsAsn)
|
|
|
|
NM_181523.3(PIK3R1):c.1541G>A (p.Arg514His)
|
rs2112270035
|
|
|
NM_181523.3(PIK3R1):c.1541G>C (p.Arg514Pro)
|
|
|
|
NM_181523.3(PIK3R1):c.1556A>G (p.Lys519Arg)
|
rs1131691859
|
|
|
NM_181523.3(PIK3R1):c.1566A>G (p.Gln522=)
|
rs2112270247
|
|
|
NM_181523.3(PIK3R1):c.1568+10T>C
|
|
|
|
NM_181523.3(PIK3R1):c.1568+10_1568+18del
|
rs1747596001
|
|
|
NM_181523.3(PIK3R1):c.1568+10dup
|
rs2112270441
|
|
|
NM_181523.3(PIK3R1):c.1568+13C>G
|
rs779251252
|
|
|
NM_181523.3(PIK3R1):c.1568+4G>C
|
|
|
|
NM_181523.3(PIK3R1):c.1568+5G>A
|
|
|
|
NM_181523.3(PIK3R1):c.1569-13C>A
|
|
|
|
NM_181523.3(PIK3R1):c.1569-14T>C
|
rs2112273923
|
|
|
NM_181523.3(PIK3R1):c.1569-3C>T
|
rs1747637758
|
|
|
NM_181523.3(PIK3R1):c.1569-6C>T
|
|
|
|
NM_181523.3(PIK3R1):c.157A>G (p.Ile53Val)
|
|
|
|
NM_181523.3(PIK3R1):c.1598C>G (p.Ser533Cys)
|
|
|
|
NM_181523.3(PIK3R1):c.1621A>G (p.Ser541Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.1628G>A (p.Arg543Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.162C>T (p.Gly54=)
|
|
|
|
NM_181523.3(PIK3R1):c.1633T>C (p.Leu545=)
|
rs1227172617
|
|
|
NM_181523.3(PIK3R1):c.1650_1674del (p.Lys551fs)
|
|
|
|
NM_181523.3(PIK3R1):c.1655A>T (p.Gln552Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.1665G>A (p.Glu555=)
|
rs200936785
|
|
|
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln)
|
rs2112275807
|
|
|
NM_181523.3(PIK3R1):c.1676T>C (p.Ile559Thr)
|
|
|
|
NM_181523.3(PIK3R1):c.1683A>G (p.Lys561=)
|
rs1747643900
|
|
|
NM_181523.3(PIK3R1):c.1684C>T (p.Arg562Cys)
|
|
|
|
NM_181523.3(PIK3R1):c.1692C>G (p.Asn564Lys)
|
rs773686816
|
|
|
NM_181523.3(PIK3R1):c.1695C>T (p.Ser565=)
|
|
|
|
NM_181523.3(PIK3R1):c.1703C>A (p.Pro568Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.1704A>T (p.Pro568=)
|
rs1580265568
|
|
|
NM_181523.3(PIK3R1):c.1708C>T (p.Leu570Phe)
|
|
|
|
NM_181523.3(PIK3R1):c.170A>G (p.Asn57Ser)
|
rs1580173662
|
|
|
NM_181523.3(PIK3R1):c.1710dup (p.Ile571fs)
|
rs1561299903
|
|
|
NM_181523.3(PIK3R1):c.1719G>A (p.Leu573=)
|
|
|
|
NM_181523.3(PIK3R1):c.1728G>A (p.Thr576=)
|
rs149090706
|
|
|
NM_181523.3(PIK3R1):c.1728G>T (p.Thr576=)
|
rs149090706
|
|
|
NM_181523.3(PIK3R1):c.1745+14A>G
|
rs1321466058
|
|
|
NM_181523.3(PIK3R1):c.1745+18A>G
|
|
|
|
NM_181523.3(PIK3R1):c.1745+5G>A
|
rs1747649223
|
|
|
NM_181523.3(PIK3R1):c.1745T>C (p.Met582Thr)
|
|
|
|
NM_181523.3(PIK3R1):c.1746-9G>C
|
|
|
|
NM_181523.3(PIK3R1):c.1758A>G (p.Gln586=)
|
rs1349813143
|
|
|
NM_181523.3(PIK3R1):c.1764T>C (p.Gly588=)
|
|
|
|
NM_181523.3(PIK3R1):c.1786G>A (p.Glu596Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.1796G>A (p.Gly599Asp)
|
|
|
|
NM_181523.3(PIK3R1):c.1799A>G (p.Asn600Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.1814+21del
|
|
|
|
NM_181523.3(PIK3R1):c.1814+6T>G
|
|
|
|
NM_181523.3(PIK3R1):c.1814+8G>T
|
|
|
|
NM_181523.3(PIK3R1):c.1815-10G>A
|
rs2112282588
|
|
|
NM_181523.3(PIK3R1):c.1815-12C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1815-17_1815-16del
|
|
|
|
NM_181523.3(PIK3R1):c.1815-6_1815-3del
|
rs1430970566
|
|
|
NM_181523.3(PIK3R1):c.1819T>C (p.Tyr607His)
|
|
|
|
NM_181523.3(PIK3R1):c.181G>C (p.Glu61Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.1836_1847dup (p.Asp615_Leu616insPheAspGluAsp)
|
|
|
|
NM_181523.3(PIK3R1):c.183A>T (p.Glu61Asp)
|
|
|
|
NM_181523.3(PIK3R1):c.1844A>T (p.Asp615Val)
|
rs1747703922
|
|
|
NM_181523.3(PIK3R1):c.1852C>T (p.His618Tyr)
|
|
|
|
NM_181523.3(PIK3R1):c.1852del (p.His618fs)
|
|
|
|
NM_181523.3(PIK3R1):c.185C>T (p.Thr62Ile)
|
rs1744294827
|
|
|
NM_181523.3(PIK3R1):c.1860T>G (p.Asp620Glu)
|
|
|
|
NM_181523.3(PIK3R1):c.1861G>A (p.Glu621Lys)
|
rs1376376979
|
|
|
NM_181523.3(PIK3R1):c.1875T>C (p.Asn625=)
|
|
|
|
NM_181523.3(PIK3R1):c.1891C>A (p.Arg631=)
|
|
|
|
NM_181523.3(PIK3R1):c.190G>C (p.Gly64Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.1912T>C (p.Leu638=)
|
rs1580267244
|
|
|
NM_181523.3(PIK3R1):c.1914G>A (p.Leu638=)
|
|
|
|
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs)
|
rs1747708267
|
|
|
NM_181523.3(PIK3R1):c.1929T>C (p.Asp643=)
|
|
|
|
NM_181523.3(PIK3R1):c.1938T>C (p.Phe646=)
|
|
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
|
NM_181523.3(PIK3R1):c.1946G>A (p.Arg649Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.1948G>A (p.Glu650Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.1962G>C (p.Gln654His)
|
|
|
|
NM_181523.3(PIK3R1):c.1975T>C (p.Cys659Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.1985+11C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1985+19C>A
|
|
|
|
NM_181523.3(PIK3R1):c.1985+19C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1985+3A>G
|
|
|
|
NM_181523.3(PIK3R1):c.1985+4T>G
|
|
|
|
NM_181523.3(PIK3R1):c.1985+7A>G
|
rs781079021
|
|
|
NM_181523.3(PIK3R1):c.1986-11C>T
|
|
|
|
NM_181523.3(PIK3R1):c.1986-17T>C
|
rs1254104173
|
|
|
NM_181523.3(PIK3R1):c.1986-19T>C
|
rs2112289925
|
|
|
NM_181523.3(PIK3R1):c.1986-31_1986-19del
|
rs2112289847
|
|
|
NM_181523.3(PIK3R1):c.1987G>A (p.Val663Met)
|
rs1747782919
|
|
|
NM_181523.3(PIK3R1):c.198G>A (p.Arg66=)
|
|
|
|
NM_181523.3(PIK3R1):c.198G>C (p.Arg66Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.1992C>G (p.Asp664Glu)
|
|
|
|
NM_181523.3(PIK3R1):c.1992C>T (p.Asp664=)
|
|
|
|
NM_181523.3(PIK3R1):c.2006A>G (p.His669Arg)
|
rs1747784886
|
|
|
NM_181523.3(PIK3R1):c.200G>A (p.Gly67Glu)
|
rs1744296159
|
|
|
NM_181523.3(PIK3R1):c.2011_2012del (p.Val671fs)
|
rs1747785071
|
|
|
NM_181523.3(PIK3R1):c.2014A>G (p.Ile672Val)
|
rs764638492
|
|
|
NM_181523.3(PIK3R1):c.2026G>A (p.Ala676Thr)
|
rs1747786981
|
|
|
NM_181523.3(PIK3R1):c.202G>A (p.Asp68Asn)
|
rs755043940
|
|
|
NM_181523.3(PIK3R1):c.2040C>G (p.Gly680=)
|
rs1747788048
|
|
|
NM_181523.3(PIK3R1):c.2056A>C (p.Asn686His)
|
rs2112291384
|
|
|
NM_181523.3(PIK3R1):c.207T>C (p.Phe69=)
|
|
|
|
NM_181523.3(PIK3R1):c.207T>G (p.Phe69Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.2086C>A (p.Leu696Ile)
|
|
|
|
NM_181523.3(PIK3R1):c.2091T>G (p.His697Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.209C>T (p.Pro70Leu)
|
rs910474484
|
|
|
NM_181523.3(PIK3R1):c.2106C>G (p.Ser702=)
|
|
|
|
NM_181523.3(PIK3R1):c.210G>A (p.Pro70=)
|
rs149852476
|
|
|
NM_181523.3(PIK3R1):c.2115G>A (p.Gln705=)
|
|
|
|
NM_181523.3(PIK3R1):c.2136C>A (p.Val712=)
|
rs2112293555
|
|
|
NM_181523.3(PIK3R1):c.213A>C (p.Gly71=)
|
|
|
|
NM_181523.3(PIK3R1):c.2147A>T (p.Tyr716Phe)
|
|
|
|
NM_181523.3(PIK3R1):c.2155T>A (p.Tyr719Asn)
|
rs1747798069
|
|
|
NM_181523.3(PIK3R1):c.2166G>A (p.Gln722=)
|
|
|
|
NM_181523.3(PIK3R1):c.2170C>T (p.Arg724Ter)
|
rs764019194
|
|
|
NM_181523.3(PIK3R1):c.2171G>A (p.Arg724Gln)
|
|
|
|
NM_181523.3(PIK3R1):c.225A>G (p.Glu75=)
|
|
|
|
NM_181523.3(PIK3R1):c.237G>T (p.Arg79Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.248C>T (p.Ser83Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.251C>G (p.Pro84Arg)
|
rs772928652
|
|
|
NM_181523.3(PIK3R1):c.257C>T (p.Thr86Ile)
|
rs1744300386
|
|
|
NM_181523.3(PIK3R1):c.25A>C (p.Arg9=)
|
|
|
|
NM_181523.3(PIK3R1):c.264G>A (p.Lys88=)
|
|
|
|
NM_181523.3(PIK3R1):c.267C>T (p.Pro89=)
|
|
|
|
NM_181523.3(PIK3R1):c.268C>T (p.Arg90Trp)
|
|
|
|
NM_181523.3(PIK3R1):c.275C>G (p.Pro92Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.278G>A (p.Arg93Gln)
|
rs765266397
|
|
|
NM_181523.3(PIK3R1):c.280C>T (p.Pro94Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.298G>C (p.Gly100Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.299G>C (p.Gly100Ala)
|
|
|
|
NM_181523.3(PIK3R1):c.308A>C (p.Lys103Thr)
|
|
|
|
NM_181523.3(PIK3R1):c.30G>A (p.Ala10=)
|
|
|
|
NM_181523.3(PIK3R1):c.312T>C (p.Thr104=)
|
|
|
|
NM_181523.3(PIK3R1):c.318A>G (p.Ala106=)
|
|
|
|
NM_181523.3(PIK3R1):c.319G>C (p.Asp107His)
|
|
|
|
NM_181523.3(PIK3R1):c.328CAA[1] (p.Gln111del)
|
|
|
|
NM_181523.3(PIK3R1):c.332A>G (p.Gln111Arg)
|
rs575423347
|
|
|
NM_181523.3(PIK3R1):c.334+14_334+15delinsCA
|
rs2111966143
|
|
|
NM_181523.3(PIK3R1):c.334+18G>C
|
|
|
|
NM_181523.3(PIK3R1):c.334+4_334+9del
|
rs1219959578
|
|
|
NM_181523.3(PIK3R1):c.334+7A>G
|
|
|
|
NM_181523.3(PIK3R1):c.335-15T>G
|
|
|
|
NM_181523.3(PIK3R1):c.335-3C>T
|
|
|
|
NM_181523.3(PIK3R1):c.33G>A (p.Leu11=)
|
|
|
|
NM_181523.3(PIK3R1):c.341C>T (p.Thr114Ile)
|
|
|
|
NM_181523.3(PIK3R1):c.343C>G (p.Leu115Val)
|
rs763574306
|
|
|
NM_181523.3(PIK3R1):c.343C>T (p.Leu115Phe)
|
rs763574306
|
|
|
NM_181523.3(PIK3R1):c.348G>C (p.Pro116=)
|
|
|
|
NM_181523.3(PIK3R1):c.351T>C (p.Asp117=)
|
rs2112164402
|
|
|
NM_181523.3(PIK3R1):c.354T>G (p.Leu118=)
|
|
|
|
NM_181523.3(PIK3R1):c.369C>A (p.Ala123=)
|
rs2112164504
|
|
|
NM_181523.3(PIK3R1):c.374C>G (p.Pro125Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.376G>A (p.Asp126Asn)
|
|
|
|
NM_181523.3(PIK3R1):c.386C>T (p.Pro129Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.398T>A (p.Ile133Asn)
|
|
|
|
NM_181523.3(PIK3R1):c.398T>C (p.Ile133Thr)
|
|
|
|
NM_181523.3(PIK3R1):c.403C>T (p.Leu135Phe)
|
rs2112164735
|
|
|
NM_181523.3(PIK3R1):c.405C>G (p.Leu135=)
|
|
|
|
NM_181523.3(PIK3R1):c.406G>A (p.Val136Met)
|
rs539374043
|
|
|
NM_181523.3(PIK3R1):c.406G>C (p.Val136Leu)
|
rs539374043
|
|
|
NM_181523.3(PIK3R1):c.413C>G (p.Ala138Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.414C>A (p.Ala138=)
|
|
|
|
NM_181523.3(PIK3R1):c.427+15A>G
|
|
|
|
NM_181523.3(PIK3R1):c.427+20G>A
|
|
|
|
NM_181523.3(PIK3R1):c.427+6C>G
|
|
|
|
NM_181523.3(PIK3R1):c.428-6T>C
|
rs1746468268
|
|
|
NM_181523.3(PIK3R1):c.435A>C (p.Glu145Asp)
|
|
|
|
NM_181523.3(PIK3R1):c.436T>G (p.Cys146Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.450C>G (p.Tyr150Ter)
|
rs1339790364
|
|
|
NM_181523.3(PIK3R1):c.451A>G (p.Arg151Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.455C>A (p.Thr152Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.468C>T (p.Ser156=)
|
|
|
|
NM_181523.3(PIK3R1):c.485G>T (p.Arg162Leu)
|
rs755300178
|
|
|
NM_181523.3(PIK3R1):c.502+6T>C
|
rs2112167267
|
|
|
NM_181523.3(PIK3R1):c.502G>A (p.Asp168Asn)
|
|
|
|
NM_181523.3(PIK3R1):c.503-5C>T
|
|
|
|
NM_181523.3(PIK3R1):c.505A>G (p.Thr169Ala)
|
|
|
|
NM_181523.3(PIK3R1):c.508C>T (p.Pro170Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.510C>G (p.Pro170=)
|
|
|
|
NM_181523.3(PIK3R1):c.511T>C (p.Ser171Pro)
|
rs1440086188
|
|
|
NM_181523.3(PIK3R1):c.517G>A (p.Asp173Asn)
|
|
|
|
NM_181523.3(PIK3R1):c.517G>T (p.Asp173Tyr)
|
|
|
|
NM_181523.3(PIK3R1):c.531C>T (p.Ile177=)
|
rs559414629
|
|
|
NM_181523.3(PIK3R1):c.532G>A (p.Asp178Asn)
|
|
|
|
NM_181523.3(PIK3R1):c.532G>T (p.Asp178Tyr)
|
|
|
|
NM_181523.3(PIK3R1):c.535G>A (p.Val179Met)
|
|
|
|
NM_181523.3(PIK3R1):c.549T>C (p.Ala183=)
|
|
|
|
NM_181523.3(PIK3R1):c.554C>T (p.Ala185Val)
|
rs1264292969
|
|
|
NM_181523.3(PIK3R1):c.558C>T (p.Phe186=)
|
|
|
|
NM_181523.3(PIK3R1):c.566A>T (p.Tyr189Phe)
|
rs1237204595
|
|
|
NM_181523.3(PIK3R1):c.568C>A (p.Leu190Ile)
|
|
|
|
NM_181523.3(PIK3R1):c.580C>A (p.Pro194Thr)
|
rs781181630
|
|
|
NM_181523.3(PIK3R1):c.580C>G (p.Pro194Ala)
|
|
|
|
NM_181523.3(PIK3R1):c.5G>A (p.Ser2Asn)
|
|
|
|
NM_181523.3(PIK3R1):c.603C>T (p.Ala201=)
|
rs780278854
|
|
|
NM_181523.3(PIK3R1):c.607T>C (p.Tyr203His)
|
|
|
|
NM_181523.3(PIK3R1):c.629C>T (p.Ala210Val)
|
|
|
|
NM_181523.3(PIK3R1):c.634+11T>G
|
rs1287288917
|
|
|
NM_181523.3(PIK3R1):c.634+14C>A
|
|
|
|
NM_181523.3(PIK3R1):c.634+82A>G
|
|
|
|
NM_181523.3(PIK3R1):c.634+8T>C
|
rs368138177
|
|
|
NM_181523.3(PIK3R1):c.635-10A>T
|
|
|
|
NM_181523.3(PIK3R1):c.635-4G>A
|
rs1262336304
|
|
|
NM_181523.3(PIK3R1):c.635-5T>G
|
|
|
|
NM_181523.3(PIK3R1):c.635-7C>G
|
rs1561289181
|
|
|
NM_181523.3(PIK3R1):c.637G>A (p.Val213Ile)
|
|
|
|
NM_181523.3(PIK3R1):c.648C>T (p.Ser216=)
|
rs575150982
|
|
|
NM_181523.3(PIK3R1):c.649G>A (p.Glu217Lys)
|
rs540361957
|
|
|
NM_181523.3(PIK3R1):c.656A>G (p.Tyr219Cys)
|
|
|
|
NM_181523.3(PIK3R1):c.657T>C (p.Tyr219=)
|
|
|
|
NM_181523.3(PIK3R1):c.658A>T (p.Ile220Phe)
|
|
|
|
NM_181523.3(PIK3R1):c.676C>G (p.Leu226Val)
|
rs1746792752
|
|
|
NM_181523.3(PIK3R1):c.680T>G (p.Ile227Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.684G>A (p.Arg228=)
|
|
|
|
NM_181523.3(PIK3R1):c.686C>T (p.Ser229Leu)
|
rs201598843
|
|
|
NM_181523.3(PIK3R1):c.698C>T (p.Pro233Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.699T>G (p.Pro233=)
|
|
|
|
NM_181523.3(PIK3R1):c.701A>G (p.His234Arg)
|
rs746719882
|
|
|
NM_181523.3(PIK3R1):c.708T>C (p.Tyr236=)
|
|
|
|
NM_181523.3(PIK3R1):c.716C>A (p.Thr239Lys)
|
rs141981005
|
|
|
NM_181523.3(PIK3R1):c.722A>T (p.Gln241Leu)
|
rs1746794995
|
|
|
NM_181523.3(PIK3R1):c.723G>A (p.Gln241=)
|
|
|
|
NM_181523.3(PIK3R1):c.736C>A (p.His246Asn)
|
rs2112195478
|
|
|
NM_181523.3(PIK3R1):c.742T>C (p.Phe248Leu)
|
|
|
|
NM_181523.3(PIK3R1):c.746A>G (p.Lys249Arg)
|
|
|
|
NM_181523.3(PIK3R1):c.750C>T (p.Leu250=)
|
|
|
|
NM_181523.3(PIK3R1):c.753T>C (p.Ser251=)
|
|
|
|
NM_181523.3(PIK3R1):c.759C>G (p.Thr253=)
|
rs2112195690
|
|
|
NM_181523.3(PIK3R1):c.75C>T (p.His25=)
|
|
|
|
NM_181523.3(PIK3R1):c.774G>A (p.Leu258=)
|
|
|
|
NM_181523.3(PIK3R1):c.800T>A (p.Ile267Asn)
|
rs2112195905
|
|
|
NM_181523.3(PIK3R1):c.811A>G (p.Met271Val)
|
|
|
|
NM_181523.3(PIK3R1):c.814C>T (p.Leu272Phe)
|
rs2112196013
|
|
|
NM_181523.3(PIK3R1):c.820A>G (p.Arg274Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.836+14G>A
|
|
|
|
NM_181523.3(PIK3R1):c.836+2T>C
|
|
|
|
NM_181523.3(PIK3R1):c.836+8A>G
|
rs1746799191
|
|
|
NM_181523.3(PIK3R1):c.837-13C>A
|
|
|
|
NM_181523.3(PIK3R1):c.837-13C>T
|
rs3730085
|
|
|
NM_181523.3(PIK3R1):c.837-7C>T
|
rs571365105
|
|
|
NM_181523.3(PIK3R1):c.842A>G (p.Asp281Gly)
|
|
|
|
NM_181523.3(PIK3R1):c.845A>G (p.Asn282Ser)
|
|
|
|
NM_181523.3(PIK3R1):c.854A>G (p.Asn285Ser)
|
rs2112196978
|
|
|
NM_181523.3(PIK3R1):c.855C>G (p.Asn285Lys)
|
|
|
|
NM_181523.3(PIK3R1):c.858C>T (p.Leu286=)
|
|
|
|
NM_181523.3(PIK3R1):c.860T>C (p.Ile287Thr)
|
|
|
|
NM_181523.3(PIK3R1):c.88T>C (p.Leu30=)
|
rs2111963982
|
|
|
NM_181523.3(PIK3R1):c.893G>A (p.Trp298Ter)
|
rs397509384
|
|
|
NM_181523.3(PIK3R1):c.897T>A (p.Asn299Lys)
|
|
|
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NM_181523.3(PIK3R1):c.898G>A (p.Glu300Lys)
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NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter)
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rs367669362
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NM_181523.3(PIK3R1):c.902G>A (p.Arg301Gln)
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NM_181523.3(PIK3R1):c.905A>T (p.Gln302Leu)
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NM_181523.3(PIK3R1):c.909T>C (p.Pro303=)
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NM_181523.3(PIK3R1):c.913C>G (p.Pro305Ala)
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NM_181523.3(PIK3R1):c.913C>T (p.Pro305Ser)
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NM_181523.3(PIK3R1):c.916+15G>T
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NM_181523.3(PIK3R1):c.916+16C>G
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NM_181523.3(PIK3R1):c.916+18T>G
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rs2112197494
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NM_181523.3(PIK3R1):c.916+2T>C
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NM_181523.3(PIK3R1):c.916+8T>C
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NM_181523.3(PIK3R1):c.916+9T>G
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NM_181523.3(PIK3R1):c.917-14_917-9del
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rs2112244267
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NM_181523.3(PIK3R1):c.917-5T>A
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NM_181523.3(PIK3R1):c.918A>G (p.Ala306=)
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NM_181523.3(PIK3R1):c.936A>C (p.Pro312=)
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NM_181523.3(PIK3R1):c.949G>A (p.Val317Ile)
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NM_181523.3(PIK3R1):c.953C>T (p.Ala318Val)
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NM_181523.3(PIK3R1):c.956A>G (p.Asn319Ser)
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NM_181523.3(PIK3R1):c.959A>G (p.Asn320Ser)
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rs1747439245
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NM_181523.3(PIK3R1):c.965del (p.Met322fs)
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rs1580260232
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NM_181523.3(PIK3R1):c.967_978del (p.Asn323_Met326del)
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rs1747439770
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NM_181523.3(PIK3R1):c.969T>C (p.Asn323=)
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NM_181523.3(PIK3R1):c.974A>G (p.Asn325Ser)
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rs1452312514
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NM_181523.3(PIK3R1):c.978G>C (p.Met326Ile)
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rs3730089
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NM_181523.3(PIK3R1):c.98A>G (p.Asn33Ser)
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