NM_173660.5(DOK7):c.772+198T>C
|
rs2699418
|
0.80260
|
NM_001301071.2(DOK7):c.1693+33A>G
|
rs2858037
|
0.69039
|
NM_173660.5(DOK7):c.*249T>C
|
rs2858030
|
0.68947
|
NM_001301071.2(DOK7):c.*105T>C
|
rs2003807
|
0.68930
|
NM_001301071.2(DOK7):c.1541-129T>C
|
rs2699409
|
0.68781
|
NM_001301071.2(DOK7):c.1498-99T>C
|
rs3135164
|
0.54771
|
NM_001301071.2(DOK7):c.*297A>G
|
rs2858017
|
0.54235
|
NM_173660.5(DOK7):c.532+54T>C
|
rs2699426
|
0.54038
|
NM_001301071.2(DOK7):c.1541-54A>G
|
rs2858036
|
0.53285
|
NM_001301071.2(DOK7):c.1541-143C>A
|
rs2858035
|
0.53244
|
NM_001301071.2(DOK7):c.1541-176G>C
|
rs10805009
|
0.49155
|
NM_173660.5(DOK7):c.*55C>G
|
rs11733064
|
0.37096
|
NM_001301071.2(DOK7):c.1694-116G>C
|
rs2071700
|
0.34112
|
NM_173660.5(DOK7):c.332-18T>C
|
rs2699425
|
0.28202
|
NM_173660.5(DOK7):c.100+288G>C
|
rs7692245
|
0.23054
|
NM_173660.5(DOK7):c.100+161C>T
|
rs7663875
|
0.22272
|
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp)
|
rs9684786
|
0.20663
|
NM_173660.5(DOK7):c.332-189A>C
|
rs146928945
|
0.20519
|
NM_173660.5(DOK7):c.773-56G>A
|
rs6830812
|
0.20140
|
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=)
|
rs6850908
|
0.18472
|
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg)
|
rs6811423
|
0.18249
|
NM_001301071.2(DOK7):c.1694-33C>T
|
rs2071701
|
0.18186
|
NM_173660.5(DOK7):c.1113A>C (p.Ser371=)
|
rs6811856
|
0.18181
|
NM_001301071.2(DOK7):c.1540+307G>A
|
rs16844487
|
0.18160
|
NM_173660.5(DOK7):c.1134G>A (p.Ala378=)
|
rs6831659
|
0.17563
|
NM_173660.5(DOK7):c.332-191T>C
|
rs556184219
|
0.16410
|
NM_173660.5(DOK7):c.332-113T>C
|
rs530579837
|
0.14396
|
NM_001301071.2(DOK7):c.*43C>T
|
rs71608283
|
0.14251
|
NM_173660.5(DOK7):c.773-142C>T
|
rs13115832
|
0.13538
|
NM_173660.5(DOK7):c.773-136G>C
|
rs13146874
|
0.13447
|
NM_173660.5(DOK7):c.101-11G>A
|
rs2344209
|
0.13238
|
NM_173660.5(DOK7):c.332-116G>A
|
rs563602472
|
0.13039
|
NM_001301071.2(DOK7):c.1540+35G>A
|
rs13130443
|
0.12880
|
NM_173660.5(DOK7):c.773-168T>G
|
rs28735586
|
0.12810
|
NM_001301071.2(DOK7):c.1693+82C>T
|
rs62272698
|
0.12794
|
NM_001301071.2(DOK7):c.1541-19A>G
|
rs13132186
|
0.12792
|
NM_173660.5(DOK7):c.100+66A>G
|
rs139051035
|
0.11496
|
NM_173660.5(DOK7):c.-30G>T
|
rs146168804
|
0.11265
|
NM_173660.5(DOK7):c.773-131G>A
|
rs2699415
|
0.11246
|
NM_173660.5(DOK7):c.331+27G>A
|
rs77051823
|
0.09480
|
NM_173660.5(DOK7):c.773-67G>A
|
rs62272676
|
0.08672
|
NM_173660.5(DOK7):c.652+259C>G
|
rs16844425
|
0.08344
|
NC_000004.12:g.3463046G>T
|
rs73079081
|
0.07952
|
NM_173660.5(DOK7):c.652+50G>A
|
rs2006802
|
0.06939
|
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser)
|
rs16844464
|
0.06297
|
NM_173660.5(DOK7):c.331+43G>T
|
rs57204641
|
0.05537
|
NM_173660.5(DOK7):c.332-221C>T
|
rs112795540
|
0.03413
|
NM_173660.5(DOK7):c.332-118C>T
|
rs1380430530
|
0.03355
|
NM_001301071.2(DOK7):c.1540+10T>C
|
rs146575370
|
0.03118
|
NM_173660.5(DOK7):c.332-92C>T
|
rs113470082
|
0.02700
|
NM_173660.5(DOK7):c.532+175A>G
|
rs61282869
|
0.02641
|
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn)
|
rs16844422
|
0.02362
|
NM_173660.5(DOK7):c.-6C>G
|
rs191800156
|
0.01785
|
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp)
|
rs16844470
|
0.01433
|
NM_173660.5(DOK7):c.1317C>T (p.Ser439=)
|
rs16844467
|
0.01424
|
NM_173660.5(DOK7):c.1143C>T (p.Pro381=)
|
rs56769879
|
0.01415
|
NM_173660.5(DOK7):c.653-19A>C
|
rs191981243
|
0.01231
|
NM_173660.5(DOK7):c.782G>A (p.Arg261His)
|
rs16844460
|
0.01070
|
NM_001301071.2(DOK7):c.1620C>T (p.Pro540=)
|
rs143778632
|
0.00976
|
NM_173660.5(DOK7):c.332-4G>A
|
rs199578351
|
0.00790
|
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp)
|
rs149905649
|
0.00516
|
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu)
|
rs62272670
|
0.00470
|
NM_001301071.2(DOK7):c.1599G>A (p.Ser533=)
|
rs115742102
|
0.00363
|
NM_173660.5(DOK7):c.772+37G>A
|
rs139753457
|
0.00256
|
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys)
|
rs145419117
|
0.00243
|
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro)
|
rs79063654
|
0.00237
|
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu)
|
rs77513082
|
0.00232
|
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys)
|
rs199980106
|
0.00227
|
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr)
|
rs150415034
|
0.00210
|
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr)
|
rs144592743
|
0.00202
|
NM_173660.5(DOK7):c.1278C>T (p.Pro426=)
|
rs139468087
|
0.00181
|
NM_173660.5(DOK7):c.921C>T (p.Ala307=)
|
rs138148221
|
0.00170
|
NM_173660.5(DOK7):c.532+18G>A
|
rs200487431
|
0.00153
|
NM_173660.5(DOK7):c.831C>T (p.Ala277=)
|
rs150549589
|
0.00113
|
NM_173660.5(DOK7):c.1020C>T (p.Ile340=)
|
rs370838856
|
0.00059
|
NM_173660.5(DOK7):c.1029C>T (p.Gly343=)
|
rs375877997
|
0.00043
|
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln)
|
rs201304841
|
0.00019
|
NM_173660.5(DOK7):c.189C>T (p.Cys63=)
|
rs372989037
|
0.00011
|
NM_173660.5(DOK7):c.1290G>A (p.Ala430=)
|
rs538047872
|
0.00009
|
GRCh37/hg19 4p16.3(chr4:3469443-3493215)x3
|
|
|
GRCh37/hg19 4p16.3(chr4:3470659-3473718)x3
|
|
|
NC_000004.12:g.3463025del
|
rs11301181
|
|
NM_001301071.2(DOK7):c.*246T>C
|
rs2699407
|
|
NM_001301071.2(DOK7):c.1541-105T>C
|
rs2699408
|
|
NM_001301071.2(DOK7):c.1541-188del
|
rs113597595
|
|
NM_001301071.2(DOK7):c.1541-193G>C
|
rs76371512
|
|
NM_001301071.2(DOK7):c.1541-5dup
|
|
|
NM_173660.5(DOK7):c.*218C>T
|
rs10022432
|
|
NM_173660.5(DOK7):c.*265G>A
|
rs35748957
|
|
NM_173660.5(DOK7):c.100+36del
|
rs566267525
|
|
NM_173660.5(DOK7):c.101-26G>A
|
rs2344208
|
|
NM_173660.5(DOK7):c.101-26G>C
|
rs2344208
|
|
NM_173660.5(DOK7):c.101-316del
|
rs35036072
|
|
NM_173660.5(DOK7):c.1305C>A (p.Gly435=)
|
rs201894731
|
|
NM_173660.5(DOK7):c.161G>A (p.Arg54His)
|
rs201818140
|
|
NM_173660.5(DOK7):c.220= (p.Leu74=)
|
rs4325970
|
|
NM_173660.5(DOK7):c.332-116_332-65del
|
rs1560212236
|
|
NM_173660.5(DOK7):c.332-121G>A
|
rs548157926
|
|
NM_173660.5(DOK7):c.332-169C>T
|
rs76913605
|
|
NM_173660.5(DOK7):c.332-173G>A
|
rs61597318
|
|
NM_173660.5(DOK7):c.332-190G>A
|
rs576150526
|
|
NM_173660.5(DOK7):c.332-199G>A
|
rs116737061
|
|
NM_173660.5(DOK7):c.332-49C>T
|
rs114112298
|
|
NM_173660.5(DOK7):c.332-56G>A
|
rs2699424
|
|
NM_173660.5(DOK7):c.532+122C>A
|
rs2857987
|
|
NM_173660.5(DOK7):c.54+29G>T
|
rs767030857
|
|
NM_173660.5(DOK7):c.54+31_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+32_54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+33del
|
rs71180187
|
|
NM_173660.5(DOK7):c.54+33dup
|
rs71180187
|
|
NM_173660.5(DOK7):c.55-12del
|
rs1214849085
|
|
NM_173660.5(DOK7):c.652+253G>A
|
rs62272672
|
|
NM_173660.5(DOK7):c.653-20G>T
|
rs185980724
|
|
NM_173660.5(DOK7):c.653-265G>A
|
rs743717
|
|
NM_173660.5(DOK7):c.772+327_772+328insCTTCACCCCTTCATTCCTTT
|
rs72349432
|
|
NM_173660.5(DOK7):c.773-235C>A
|
rs6844878
|
|
NM_173660.5(DOK7):c.773-32del
|
rs34230391
|
|
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys)
|
rs142821143
|
|
NM_173660.5(DOK7):c.909T>C (p.Ala303=)
|
|
|
NM_173660.5(DOK7):c.918C>T (p.Ala306=)
|
rs141947707
|
|
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys)
|
rs150728781
|
|