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.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.846C>T (p.Phe282=)
|
rs35232749
|
0.03726
|
NM_000512.5(GALNS):c.510T>C (p.Tyr170=)
|
rs3743544
|
0.03694
|
NM_000512.5(GALNS):c.1364+256T>C
|
rs144243016
|
0.03668
|
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.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.318C>T (p.Asn106=)
|
rs34278797
|
0.01971
|
NM_000512.5(GALNS):c.422+273A>G
|
rs75750032
|
0.01860
|
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.1278G>T (p.Gly426=)
|
rs76651187
|
0.01075
|
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.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
NM_000512.5(GALNS):c.1003-42C>T
|
rs139088253
|
0.00674
|
NM_000512.5(GALNS):c.566+30C>T
|
rs200659210
|
0.00141
|
NM_000512.5(GALNS):c.633+22T>C
|
rs201579340
|
0.00045
|
GRCh37/hg19 16q24.3(chr16:88891364-88902183)x1
|
|
|
NM_000512.5(GALNS):c.1140-210_1140-188dup
|
rs796942675
|
|
NM_000512.5(GALNS):c.1482+599C>T
|
|
|
NM_000512.5(GALNS):c.422+117C>A
|
rs8054994
|
|
NM_000512.5(GALNS):c.567-256C>G
|
rs112837743
|
|
NM_000512.5(GALNS):c.634-134A>G
|
rs112424203
|
|
NM_000512.5(GALNS):c.758+135G>A
|
rs79939637
|
|