NM_000512.5(GALNS):c.1242+149G>A
|
rs747232
|
0.38901
|
NM_000512.5(GALNS):c.633+125A>G
|
rs2269334
|
0.38828
|
NM_000512.5(GALNS):c.759-90A>T
|
rs11076721
|
0.38707
|
NM_000512.5(GALNS):c.633+138C>A
|
rs2269335
|
0.37886
|
NM_000512.5(GALNS):c.1003-170T>C
|
rs3743546
|
0.34189
|
NM_000512.5(GALNS):c.633+91T>C
|
rs2269333
|
0.34085
|
NM_000512.5(GALNS):c.1139+97G>C
|
rs3859024
|
0.33633
|
NM_000512.5(GALNS):c.423-627T>C
|
rs7205379
|
0.32533
|
NM_000512.5(GALNS):c.567-105T>C
|
rs12444543
|
0.28239
|
NM_000512.5(GALNS):c.566+234G>T
|
rs3784884
|
0.28028
|
NM_000512.5(GALNS):c.566+134G>A
|
rs3784883
|
0.25805
|
NM_000512.5(GALNS):c.567-145A>G
|
rs11076722
|
0.25062
|
NM_000512.5(GALNS):c.567-148C>A
|
rs11076723
|
0.25040
|
NM_000512.5(GALNS):c.708C>T (p.His236=)
|
rs1064315
|
0.24874
|
NM_000512.5(GALNS):c.423-901T>C
|
rs897958
|
0.23810
|
NM_000512.5(GALNS):c.244+86G>A
|
rs71395332
|
0.20954
|
NM_000512.5(GALNS):c.634-19G>A
|
rs12934499
|
0.20916
|
NM_000512.5(GALNS):c.1483-32G>C
|
rs11076716
|
0.19802
|
NM_000512.5(GALNS):c.899-277G>A
|
rs8050636
|
0.13495
|
NM_000512.5(GALNS):c.244+19C>T
|
rs35137494
|
0.13406
|
NM_000512.5(GALNS):c.634-130T>C
|
rs375743510
|
0.13327
|
NM_000512.5(GALNS):c.1243-309A>G
|
rs55789563
|
0.12428
|
NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
NM_000512.5(GALNS):c.634-20C>T
|
rs17603837
|
0.08794
|
NM_000512.5(GALNS):c.245-65G>A
|
rs112246973
|
0.08235
|
NM_000512.5(GALNS):c.1242+97G>T
|
rs73251097
|
0.06662
|
NM_000512.5(GALNS):c.320-342G>A
|
rs78178561
|
0.05788
|
NM_000512.5(GALNS):c.423-253G>A
|
rs117624874
|
0.05743
|
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser)
|
rs2303269
|
0.05170
|
NM_000512.5(GALNS):c.244+49C>T
|
rs13334220
|
0.05168
|
NM_000512.5(GALNS):c.1242+36C>T
|
rs116993143
|
0.05164
|
NM_000512.5(GALNS):c.898+42G>C
|
rs76095307
|
0.05085
|
NM_000512.5(GALNS):c.759-84G>A
|
rs75914102
|
0.05070
|
NM_000512.5(GALNS):c.758+22C>T
|
rs78317153
|
0.04917
|
NM_000512.5(GALNS):c.121-208A>G
|
rs28493584
|
0.04733
|
NM_000512.5(GALNS):c.898+25C>G
|
rs113936280
|
0.04554
|
NM_000512.5(GALNS):c.599C>T (p.Thr200Met)
|
rs7187889
|
0.04495
|
NM_000512.5(GALNS):c.566+322G>T
|
rs9923565
|
0.04494
|
NM_000512.5(GALNS):c.898+228_898+229del
|
rs140419131
|
0.04439
|
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly)
|
rs34745339
|
0.04350
|
NM_000512.5(GALNS):c.1003-134del
|
rs3833041
|
0.03986
|
NM_000512.5(GALNS):c.1139+108C>T
|
rs115789441
|
0.03980
|
NM_000512.5(GALNS):c.1140-85C>T
|
rs73251099
|
0.03871
|
NM_000512.5(GALNS):c.1003-127G>A
|
rs74035850
|
0.03865
|
NM_000512.5(GALNS):c.1140-163A>G
|
rs76578155
|
0.03856
|
NM_000512.5(GALNS):c.1140-161C>A
|
rs75205147
|
0.03828
|
NM_000512.5(GALNS):c.566+195T>C
|
rs117577078
|
0.03810
|
NM_000512.5(GALNS):c.846C>T (p.Phe282=)
|
rs35232749
|
0.03726
|
NM_000512.5(GALNS):c.898+100C>T
|
rs117163814
|
0.03711
|
NM_000512.5(GALNS):c.510T>C (p.Tyr170=)
|
rs3743544
|
0.03694
|
NM_000512.5(GALNS):c.566+110T>G
|
rs16965092
|
0.03692
|
NM_000512.5(GALNS):c.423-128A>G
|
rs3743542
|
0.03687
|
NM_000512.5(GALNS):c.423-89A>G
|
rs3743543
|
0.03679
|
NM_000512.5(GALNS):c.423-239G>A
|
rs118162132
|
0.03676
|
NM_000512.5(GALNS):c.1364+256T>C
|
rs144243016
|
0.03668
|
NM_000512.5(GALNS):c.633+157G>A
|
rs147408884
|
0.03588
|
NM_000512.5(GALNS):c.1482+281C>T
|
rs115492020
|
0.03314
|
NM_000512.5(GALNS):c.422+78A>G
|
rs116722990
|
0.03303
|
NM_000512.5(GALNS):c.567-247G>A
|
rs146543079
|
0.03114
|
NM_000512.5(GALNS):c.567-259G>A
|
rs143875431
|
0.03108
|
NM_000512.5(GALNS):c.422+328G>A
|
rs115776613
|
0.03104
|
NM_000512.5(GALNS):c.634-125C>T
|
rs113435087
|
0.02951
|
NM_000512.5(GALNS):c.899-276G>A
|
rs75267235
|
0.02917
|
NM_000512.5(GALNS):c.898+68G>A
|
rs7187783
|
0.02903
|
NM_000512.5(GALNS):c.898+208G>A
|
rs7187565
|
0.02902
|
NM_000512.5(GALNS):c.1002+174C>T
|
rs2061376
|
0.02219
|
NM_000512.5(GALNS):c.318C>T (p.Asn106=)
|
rs34278797
|
0.01971
|
NM_000512.5(GALNS):c.422+273A>G
|
rs75750032
|
0.01860
|
NM_000512.5(GALNS):c.244+59C>T
|
rs150155464
|
0.01819
|
NM_000512.5(GALNS):c.423-161C>T
|
rs117215304
|
0.01776
|
NM_000512.5(GALNS):c.240G>A (p.Ser80=)
|
rs11865929
|
0.01724
|
NM_000512.5(GALNS):c.566+10C>T
|
rs77514811
|
0.01544
|
NM_000512.5(GALNS):c.1243-324G>T
|
rs150894695
|
0.01179
|
NM_000512.5(GALNS):c.1139+237C>A
|
rs142114511
|
0.01148
|
NM_000512.5(GALNS):c.1278G>T (p.Gly426=)
|
rs76651187
|
0.01075
|
NM_000512.5(GALNS):c.1002+17C>T
|
rs78494153
|
0.01020
|
NM_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
NM_000512.5(GALNS):c.121-210C>T
|
rs75552025
|
0.00974
|
NM_000512.5(GALNS):c.1243-45G>A
|
rs79025743
|
0.00909
|
NM_000512.5(GALNS):c.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
NM_000512.5(GALNS):c.899-4C>G
|
rs143793386
|
0.00779
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
NM_000512.5(GALNS):c.*236C>T
|
rs189375208
|
0.00701
|
NM_000512.5(GALNS):c.1003-42C>T
|
rs139088253
|
0.00674
|
NM_000512.5(GALNS):c.1242+29G>A
|
rs115524203
|
0.00597
|
NM_000512.5(GALNS):c.1002+157A>G
|
rs3933762
|
0.00498
|
NM_000512.5(GALNS):c.1002+172A>G
|
rs2061375
|
0.00390
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
NM_000512.5(GALNS):c.566+30C>T
|
rs200659210
|
0.00141
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
NM_000512.5(GALNS):c.633+22T>C
|
rs201579340
|
0.00045
|
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)
|
rs138555898
|
0.00034
|
NM_000512.5(GALNS):c.756G>A (p.Gly252=)
|
rs146538873
|
0.00021
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
NM_000512.5(GALNS):c.899-6T>C
|
rs374850312
|
0.00014
|
NM_000512.5(GALNS):c.138C>T (p.Leu46=)
|
rs140588640
|
0.00009
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
0.00009
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)
|
rs371459975
|
0.00006
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
NM_000512.5(GALNS):c.833C>T (p.Ala278Val)
|
rs141544939
|
0.00005
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)
|
rs146093755
|
0.00004
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)
|
rs886039377
|
0.00003
|
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)
|
rs398123429
|
0.00002
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
NM_000512.5(GALNS):c.498del (p.Phe167fs)
|
rs772656696
|
0.00002
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val)
|
rs398123430
|
0.00001
|
NM_000512.5(GALNS):c.1176G>A (p.Ala392=)
|
rs398123431
|
0.00001
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)
|
rs398123433
|
0.00001
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)
|
rs1028668536
|
0.00001
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
0.00001
|
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)
|
rs398123439
|
0.00001
|
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe)
|
rs118204444
|
0.00001
|
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu)
|
rs1057518404
|
0.00001
|
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg)
|
rs556060696
|
0.00001
|
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)
|
rs746756997
|
0.00001
|
GRCh37/hg19 16q24.3(chr16:88891364-88902183)x1
|
|
|
NM_000512.5(GALNS):c.1002+108C>G
|
|
|
NM_000512.5(GALNS):c.1002+307G>C
|
rs866140272
|
|
NM_000512.5(GALNS):c.1003-10T>G
|
rs753249472
|
|
NM_000512.5(GALNS):c.1113C>T (p.Thr371=)
|
rs375098009
|
|
NM_000512.5(GALNS):c.1140-164_1140-163insCCCAGGCACCCCAGCCCCGGACA
|
rs371781935
|
|
NM_000512.5(GALNS):c.1140-210_1140-188dup
|
rs796942675
|
|
NM_000512.5(GALNS):c.1140-256_1140-242del
|
rs373492223
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
NM_000512.5(GALNS):c.1228G>T (p.Glu410Ter)
|
rs1567519109
|
|
NM_000512.5(GALNS):c.1243-243G>A
|
rs115109426
|
|
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
|
|
|
NM_000512.5(GALNS):c.1315C>T (p.Pro439Ser)
|
rs1910357740
|
|
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)
|
rs398123432
|
|
NM_000512.5(GALNS):c.1364+8G>T
|
rs368171136
|
|
NM_000512.5(GALNS):c.1482+599C>T
|
|
|
NM_000512.5(GALNS):c.1485C>T (p.Asn495=)
|
|
|
NM_000512.5(GALNS):c.1513G>A (p.Gly505Arg)
|
rs761539025
|
|
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)
|
rs398123435
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.266G>T (p.Gly89Val)
|
rs398123436
|
|
NM_000512.5(GALNS):c.306C>T (p.Ala102=)
|
|
|
NM_000512.5(GALNS):c.319+15G>T
|
rs777179922
|
|
NM_000512.5(GALNS):c.405_422+1del
|
rs398123437
|
|
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)
|
rs794727625
|
|
NM_000512.5(GALNS):c.422+117C>A
|
rs8054994
|
|
NM_000512.5(GALNS):c.423-1049C>T
|
|
|
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000512.5(GALNS):c.539T>C (p.Val180Ala)
|
rs886039376
|
|
NM_000512.5(GALNS):c.566+186T>C
|
|
|
NM_000512.5(GALNS):c.567-256C>G
|
rs112837743
|
|
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys)
|
rs886042058
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
NM_000512.5(GALNS):c.634-134A>G
|
rs112424203
|
|
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)
|
rs398123440
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
NM_000512.5(GALNS):c.758+135G>A
|
rs79939637
|
|
NM_000512.5(GALNS):c.758+94C>T
|
|
|
NM_000512.5(GALNS):c.759-129G>C
|
rs117958182
|
|
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp)
|
rs61742258
|
|
NM_000512.5(GALNS):c.829G>A (p.Val277Ile)
|
rs1911999994
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
NM_000512.5(GALNS):c.865A>T (p.Asn289Tyr)
|
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
NM_000512.5(GALNS):c.899-66_907delinsACTCAGTG
|
rs1597559669
|
|
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)
|
rs2142999207
|
|