|
NM_000512.5(GALNS):c.1431G>A (p.Glu477=)
|
rs2303271
|
0.40780
|
|
NM_000512.5(GALNS):c.120+1532G>C
|
rs34150867
|
0.38226
|
|
NM_000512.5(GALNS):c.*367T>C
|
rs1141390
|
0.33207
|
|
NM_000512.5(GALNS):c.*611A>G
|
rs1135364
|
0.26293
|
|
NM_000512.5(GALNS):c.708C>T (p.His236=)
|
rs1064315
|
0.24874
|
|
NM_000512.5(GALNS):c.*36G>A
|
rs11076715
|
0.23846
|
|
NM_000512.5(GALNS):c.*652A>G
|
rs1135366
|
0.23189
|
|
NM_000512.5(GALNS):c.*701C>G
|
rs77936719
|
0.21621
|
|
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.244+19C>T
|
rs35137494
|
0.13406
|
|
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.1177G>T (p.Ala393Ser)
|
rs2303269
|
0.05170
|
|
NM_000512.5(GALNS):c.244+49C>T
|
rs13334220
|
0.05168
|
|
NM_000512.5(GALNS):c.898+42G>C
|
rs76095307
|
0.05085
|
|
NM_000512.5(GALNS):c.758+22C>T
|
rs78317153
|
0.04917
|
|
NM_000512.5(GALNS):c.*524G>C
|
rs3759946
|
0.04660
|
|
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.692C>G (p.Ala231Gly)
|
rs34745339
|
0.04350
|
|
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.1376C>T (p.Ala459Val)
|
rs114703967
|
0.03559
|
|
NM_000512.4(GALNS):c.-92T>C
|
rs116702472
|
0.03132
|
|
NM_000512.5(GALNS):c.*296A>G
|
rs79507351
|
0.02153
|
|
NM_000512.5(GALNS):c.318C>T (p.Asn106=)
|
rs34278797
|
0.01971
|
|
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.*224C>G
|
rs111233947
|
0.01437
|
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
|
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.-68C>T
|
rs144789309
|
0.01019
|
|
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.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.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
|
NM_000512.5(GALNS):c.*546C>T
|
rs114447455
|
0.00455
|
|
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)
|
rs112454391
|
0.00404
|
|
NM_000512.5(GALNS):c.-32C>T
|
rs556283159
|
0.00350
|
|
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)
|
rs147536058
|
0.00336
|
|
NM_000512.5(GALNS):c.759-67G>A
|
rs565875595
|
0.00305
|
|
NM_000512.5(GALNS):c.-54G>A
|
rs369448232
|
0.00280
|
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
|
NM_000512.5(GALNS):c.566+5T>C
|
rs3743545
|
0.00118
|
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
|
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
|
NM_000512.5(GALNS):c.*523G>A
|
rs181174683
|
0.00076
|
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
|
NM_000512.5(GALNS):c.1551G>A (p.Lys517=)
|
rs148182125
|
0.00053
|
|
NM_000512.5(GALNS):c.*197C>T
|
rs187469283
|
0.00051
|
|
NM_000512.5(GALNS):c.*573A>G
|
rs551511278
|
0.00047
|
|
NM_000512.5(GALNS):c.252G>A (p.Ala84=)
|
rs377250967
|
0.00038
|
|
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)
|
rs138555898
|
0.00034
|
|
NM_000512.5(GALNS):c.1364+8G>A
|
rs368171136
|
0.00034
|
|
NM_000512.5(GALNS):c.634-13G>A
|
rs372009899
|
0.00034
|
|
NM_000512.5(GALNS):c.*140C>A
|
rs557356503
|
0.00031
|
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
|
NM_000512.5(GALNS):c.412G>A (p.Val138Ile)
|
rs140018158
|
0.00029
|
|
NM_000512.5(GALNS):c.*29A>C
|
rs377151771
|
0.00027
|
|
NM_000512.5(GALNS):c.1482+4A>G
|
rs377407678
|
0.00026
|
|
NM_000512.5(GALNS):c.1002+18G>A
|
rs376019383
|
0.00024
|
|
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.1242+16C>T
|
rs373098107
|
0.00020
|
|
NM_000512.5(GALNS):c.*656T>C
|
rs763539126
|
0.00019
|
|
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn)
|
rs202031547
|
0.00018
|
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
|
NM_000512.5(GALNS):c.633+12C>T
|
rs199726408
|
0.00015
|
|
NM_000512.5(GALNS):c.699C>T (p.Asp233=)
|
rs374694424
|
0.00015
|
|
NM_000512.5(GALNS):c.*287T>C
|
rs776880179
|
0.00014
|
|
NM_000512.5(GALNS):c.899-6T>C
|
rs374850312
|
0.00014
|
|
NM_000512.5(GALNS):c.1414G>A (p.Val472Ile)
|
rs147290567
|
0.00013
|
|
NM_000512.5(GALNS):c.1135G>A (p.Asp379Asn)
|
rs146471218
|
0.00011
|
|
NM_000512.5(GALNS):c.1161C>T (p.Gly387=)
|
rs376919708
|
0.00011
|
|
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)
|
rs750739641
|
0.00009
|
|
NM_000512.5(GALNS):c.138C>T (p.Leu46=)
|
rs140588640
|
0.00009
|
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
0.00009
|
|
NM_000512.5(GALNS):c.1003-19T>C
|
rs368105385
|
0.00008
|
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
|
NM_000512.5(GALNS):c.969C>T (p.Leu323=)
|
rs373218044
|
0.00008
|
|
NM_000512.5(GALNS):c.120+14G>A
|
rs368397682
|
0.00007
|
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
|
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.1269C>T (p.Asn423=)
|
rs148709901
|
0.00006
|
|
NM_000512.5(GALNS):c.1364+6T>A
|
rs377120480
|
0.00006
|
|
NM_000512.5(GALNS):c.360G>A (p.Ser120=)
|
rs368060807
|
0.00006
|
|
NM_000512.5(GALNS):c.39G>A (p.Leu13=)
|
rs767326423
|
0.00006
|
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
|
NM_000512.5(GALNS):c.887C>T (p.Ala296Val)
|
rs200371805
|
0.00006
|
|
NM_000512.5(GALNS):c.909C>T (p.Asn303=)
|
rs751446283
|
0.00006
|
|
NM_000512.5(GALNS):c.921G>T (p.Leu307=)
|
rs201986622
|
0.00006
|
|
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)
|
rs768180795
|
0.00005
|
|
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.*145C>T
|
rs539285988
|
0.00004
|
|
NM_000512.5(GALNS):c.*95T>A
|
rs536448022
|
0.00004
|
|
NM_000512.5(GALNS):c.1002+10C>T
|
rs746669295
|
0.00004
|
|
NM_000512.5(GALNS):c.1139+20C>T
|
rs762116692
|
0.00004
|
|
NM_000512.5(GALNS):c.121-18C>T
|
rs200396173
|
0.00004
|
|
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)
|
rs760260706
|
0.00004
|
|
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)
|
rs141171091
|
0.00004
|
|
NM_000512.5(GALNS):c.168C>G (p.Thr56=)
|
rs368128023
|
0.00004
|
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
|
NM_000512.5(GALNS):c.24G>A (p.Thr8=)
|
rs904615956
|
0.00004
|
|
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser)
|
rs146093755
|
0.00004
|
|
NM_000512.5(GALNS):c.715G>A (p.Val239Ile)
|
rs145131011
|
0.00004
|
|
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp)
|
rs761385192
|
0.00004
|
|
NM_000512.5(GALNS):c.828C>T (p.His276=)
|
rs759216815
|
0.00004
|
|
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)
|
rs377591464
|
0.00004
|
|
NM_000512.5(GALNS):c.899-19A>G
|
rs759805854
|
0.00004
|
|
NM_000512.5(GALNS):c.97A>G (p.Ile33Val)
|
rs768296954
|
0.00004
|
|
NM_000512.5(GALNS):c.*610G>T
|
rs755706847
|
0.00003
|
|
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)
|
rs769748679
|
0.00003
|
|
NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)
|
rs755832705
|
0.00003
|
|
NM_000512.5(GALNS):c.1139+19C>T
|
rs777834560
|
0.00003
|
|
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr)
|
rs2303270
|
0.00003
|
|
NM_000512.5(GALNS):c.1238G>A (p.Arg413Lys)
|
rs374798170
|
0.00003
|
|
NM_000512.5(GALNS):c.1336C>T (p.Arg446Trp)
|
rs557217245
|
0.00003
|
|
NM_000512.5(GALNS):c.1365-20C>T
|
rs1044328485
|
0.00003
|
|
NM_000512.5(GALNS):c.1374C>T (p.Ser458=)
|
rs534204869
|
0.00003
|
|
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)
|
rs886039377
|
0.00003
|
|
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)
|
rs118204447
|
0.00003
|
|
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)
|
rs754731091
|
0.00003
|
|
NM_000512.5(GALNS):c.330G>A (p.Pro110=)
|
rs374355420
|
0.00003
|
|
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter)
|
rs200374326
|
0.00003
|
|
NM_000512.5(GALNS):c.640C>G (p.Leu214Val)
|
rs1424752390
|
0.00003
|
|
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr)
|
rs550139020
|
0.00003
|
|
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)
|
rs779257235
|
0.00003
|
|
NM_000512.5(GALNS):c.822C>T (p.Asp274=)
|
rs764817769
|
0.00003
|
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
|
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)
|
rs149239881
|
0.00003
|
|
NM_000512.5(GALNS):c.885C>T (p.Ser295=)
|
rs766121335
|
0.00003
|
|
NM_000512.5(GALNS):c.*263T>C
|
rs886052451
|
0.00002
|
|
NM_000512.5(GALNS):c.1005G>C (p.Val335=)
|
rs772871566
|
0.00002
|
|
NM_000512.5(GALNS):c.102G>A (p.Leu34=)
|
rs748866414
|
0.00002
|
|
NM_000512.5(GALNS):c.1052C>T (p.Ala351Val)
|
rs761386453
|
0.00002
|
|
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
|
rs768334388
|
0.00002
|
|
NM_000512.5(GALNS):c.1087A>G (p.Ile363Val)
|
rs758802414
|
0.00002
|
|
NM_000512.5(GALNS):c.1100A>G (p.Asn367Ser)
|
rs150111302
|
0.00002
|
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
|
NM_000512.5(GALNS):c.1157G>A (p.Arg386His)
|
rs1221167717
|
0.00002
|
|
NM_000512.5(GALNS):c.1171A>G (p.Met391Val)
|
rs398123429
|
0.00002
|
|
NM_000512.5(GALNS):c.1242+17G>A
|
rs1159726808
|
0.00002
|
|
NM_000512.5(GALNS):c.1476G>A (p.Ala492=)
|
rs371056948
|
0.00002
|
|
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu)
|
rs542835085
|
0.00002
|
|
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val)
|
rs201153945
|
0.00002
|
|
NM_000512.5(GALNS):c.245-11C>T
|
rs552476248
|
0.00002
|
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
|
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
|
rs190707335
|
0.00002
|
|
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr)
|
rs372585484
|
0.00002
|
|
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)
|
rs763184657
|
0.00002
|
|
NM_000512.5(GALNS):c.327A>C (p.Thr109=)
|
rs759916392
|
0.00002
|
|
NM_000512.5(GALNS):c.453C>A (p.Pro151=)
|
rs752021223
|
0.00002
|
|
NM_000512.5(GALNS):c.47T>G (p.Val16Gly)
|
rs794729202
|
0.00002
|
|
NM_000512.5(GALNS):c.498del (p.Phe167fs)
|
rs772656696
|
0.00002
|
|
NM_000512.5(GALNS):c.522C>G (p.Ala174=)
|
rs891821999
|
0.00002
|
|
NM_000512.5(GALNS):c.628C>T (p.Leu210=)
|
rs780787351
|
0.00002
|
|
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs)
|
rs1468285336
|
0.00002
|
|
NM_000512.5(GALNS):c.663A>T (p.Ala221=)
|
rs749077864
|
0.00002
|
|
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp)
|
rs146963745
|
0.00002
|
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
|
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys)
|
rs759590432
|
0.00002
|
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
|
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro)
|
rs200448421
|
0.00001
|
|
NM_000512.5(GALNS):c.*144T>C
|
rs1157099470
|
0.00001
|
|
NM_000512.5(GALNS):c.*186C>G
|
rs1032068378
|
0.00001
|
|
NM_000512.5(GALNS):c.*20C>G
|
rs886052454
|
0.00001
|
|
NM_000512.5(GALNS):c.*503T>G
|
rs573836350
|
0.00001
|
|
NM_000512.5(GALNS):c.*639T>G
|
rs1186947306
|
0.00001
|
|
NM_000512.5(GALNS):c.*86C>T
|
rs897826613
|
0.00001
|
|
NM_000512.5(GALNS):c.1002+11G>A
|
rs777624961
|
0.00001
|
|
NM_000512.5(GALNS):c.1003-10T>C
|
rs753249472
|
0.00001
|
|
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)
|
rs886052456
|
0.00001
|
|
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)
|
rs767131589
|
0.00001
|
|
NM_000512.5(GALNS):c.1062C>T (p.Gly354=)
|
rs1910972322
|
0.00001
|
|
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met)
|
rs1017572961
|
0.00001
|
|
NM_000512.5(GALNS):c.106C>T (p.Leu36=)
|
rs779849307
|
0.00001
|
|
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe)
|
rs368784505
|
0.00001
|
|
NM_000512.5(GALNS):c.1125C>T (p.Gly375=)
|
rs773846201
|
0.00001
|
|
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp)
|
rs762690924
|
0.00001
|
|
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn)
|
rs373739301
|
0.00001
|
|
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)
|
rs752339162
|
0.00001
|
|
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.1182C>A (p.Thr394=)
|
rs1414082372
|
0.00001
|
|
NM_000512.5(GALNS):c.118G>C (p.Asp40His)
|
rs1967935603
|
0.00001
|
|
NM_000512.5(GALNS):c.121-31T>C
|
rs776895500
|
0.00001
|
|
NM_000512.5(GALNS):c.1219A>C (p.Asn407His)
|
rs749578474
|
0.00001
|
|
NM_000512.5(GALNS):c.121A>T (p.Met41Leu)
|
rs1283377907
|
0.00001
|
|
NM_000512.5(GALNS):c.1230G>A (p.Glu410=)
|
rs567507214
|
0.00001
|
|
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)
|
rs757870208
|
0.00001
|
|
NM_000512.5(GALNS):c.1319del (p.Leu440fs)
|
rs1567517083
|
0.00001
|
|
NM_000512.5(GALNS):c.1377C>T (p.Ala459=)
|
rs757704061
|
0.00001
|
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
|
NM_000512.5(GALNS):c.13G>A (p.Val5Ile)
|
rs1415400985
|
0.00001
|
|
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)
|
rs781512359
|
0.00001
|
|
NM_000512.5(GALNS):c.1445C>T (p.Ala482Val)
|
rs1909820489
|
0.00001
|
|
NM_000512.5(GALNS):c.1461C>T (p.Asn487=)
|
rs1273463889
|
0.00001
|
|
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg)
|
rs753344649
|
0.00001
|
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
0.00001
|
|
NM_000512.5(GALNS):c.1483-15A>G
|
rs1461992033
|
0.00001
|
|
NM_000512.5(GALNS):c.1483-1G>A
|
rs1223848239
|
0.00001
|
|
NM_000512.5(GALNS):c.1483-1G>C
|
rs1223848239
|
0.00001
|
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
|
NM_000512.5(GALNS):c.1492C>T (p.Pro498Ser)
|
rs1454253268
|
0.00001
|
|
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)
|
rs1303492021
|
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.167C>A (p.Thr56Asn)
|
rs1967037775
|
0.00001
|
|
NM_000512.5(GALNS):c.184A>T (p.Met62Leu)
|
rs1367462378
|
0.00001
|
|
NM_000512.5(GALNS):c.1A>G (p.Met1Val)
|
rs771531650
|
0.00001
|
|
NM_000512.5(GALNS):c.1A>T (p.Met1Leu)
|
rs771531650
|
0.00001
|
|
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
|
rs1478665723
|
0.00001
|
|
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser)
|
rs765151762
|
0.00001
|
|
NM_000512.5(GALNS):c.243A>G (p.Pro81=)
|
rs759476855
|
0.00001
|
|
NM_000512.5(GALNS):c.244+20G>A
|
rs373227121
|
0.00001
|
|
NM_000512.5(GALNS):c.244T>C (p.Ser82Pro)
|
rs1338871013
|
0.00001
|
|
NM_000512.5(GALNS):c.251C>T (p.Ala84Val)
|
rs141340188
|
0.00001
|
|
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)
|
rs1028668536
|
0.00001
|
|
NM_000512.5(GALNS):c.278T>A (p.Ile93Asn)
|
rs1966993165
|
0.00001
|
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
|
NM_000512.5(GALNS):c.320-13G>A
|
rs113186480
|
0.00001
|
|
NM_000512.5(GALNS):c.320-1G>T
|
rs1245504167
|
0.00001
|
|
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr)
|
rs979373729
|
0.00001
|
|
NM_000512.5(GALNS):c.376G>T (p.Glu126Ter)
|
rs1177468816
|
0.00001
|
|
NM_000512.5(GALNS):c.394G>A (p.Gly132Ser)
|
rs766859208
|
0.00001
|
|
NM_000512.5(GALNS):c.399C>T (p.Tyr133=)
|
rs761206910
|
0.00001
|
|
NM_000512.5(GALNS):c.406A>C (p.Lys136Gln)
|
rs750953060
|
0.00001
|
|
NM_000512.5(GALNS):c.422+17C>T
|
rs748212930
|
0.00001
|
|
NM_000512.5(GALNS):c.422G>A (p.Trp141Ter)
|
rs746862066
|
0.00001
|
|
NM_000512.5(GALNS):c.441C>T (p.Pro147=)
|
rs756456652
|
0.00001
|
|
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr)
|
rs781439830
|
0.00001
|
|
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu)
|
rs559063128
|
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.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
|
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr)
|
rs763093375
|
0.00001
|
|
NM_000512.5(GALNS):c.551G>A (p.Trp184Ter)
|
rs779545826
|
0.00001
|
|
NM_000512.5(GALNS):c.567-3C>T
|
rs549597016
|
0.00001
|
|
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)
|
rs1427663367
|
0.00001
|
|
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
|
rs772413313
|
0.00001
|
|
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)
|
rs770239604
|
0.00001
|
|
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)
|
rs771810111
|
0.00001
|
|
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser)
|
rs747805226
|
0.00001
|
|
NM_000512.5(GALNS):c.66G>T (p.Met22Ile)
|
rs1427287935
|
0.00001
|
|
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn)
|
rs753051547
|
0.00001
|
|
NM_000512.5(GALNS):c.706C>T (p.His236Tyr)
|
rs1228027865
|
0.00001
|
|
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys)
|
rs752039956
|
0.00001
|
|
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln)
|
rs1199639828
|
0.00001
|
|
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
|
rs775300515
|
0.00001
|
|
NM_000512.5(GALNS):c.758G>A (p.Arg253Gln)
|
rs769560969
|
0.00001
|
|
NM_000512.5(GALNS):c.759-3C>G
|
rs776430057
|
0.00001
|
|
NM_000512.5(GALNS):c.763G>A (p.Gly255Arg)
|
rs1336648211
|
0.00001
|
|
NM_000512.5(GALNS):c.764G>A (p.Gly255Glu)
|
rs1912009292
|
0.00001
|
|
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr)
|
rs773283163
|
0.00001
|
|
NM_000512.5(GALNS):c.847G>A (p.Val283Ile)
|
rs772097990
|
0.00001
|
|
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
|
NM_000512.5(GALNS):c.898+1G>A
|
rs761850746
|
0.00001
|
|
NM_000512.5(GALNS):c.898+1G>C
|
rs761850746
|
0.00001
|
|
NM_000512.5(GALNS):c.898+4A>G
|
rs774518058
|
0.00001
|
|
NM_000512.5(GALNS):c.899-13C>T
|
rs938443899
|
0.00001
|
|
NM_000512.5(GALNS):c.899-1G>C
|
rs745523154
|
0.00001
|
|
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
|
rs764070268
|
0.00001
|
|
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)
|
rs758439379
|
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.952A>T (p.Met318Leu)
|
rs537013895
|
0.00001
|
|
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)
|
rs746756997
|
0.00001
|
|
NM_000512.5(GALNS):c.987C>T (p.His329=)
|
rs750730964
|
0.00001
|
|
NM_000512.5(GALNS):c.988G>A (p.Val330Ile)
|
rs767856715
|
0.00001
|
|
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
|
rs762154863
|
0.00001
|
|
NC_000016.10:g.(88810557_88811549)_(88841972_88842705)del
|
|
|
|
NC_000016.10:g.(?_88813734)_(88841972_88842705)del
|
|
|
|
NC_000016.10:g.(?_88813734)_(88856758_?)del
|
|
|
|
NC_000016.10:g.(?_88814419)_(88856897_?)del
|
|
|
|
NC_000016.10:g.(?_88822569)_(88842849_?)del
|
|
|
|
NC_000016.10:g.(?_88826682)_(88826858_?)del
|
|
|
|
NC_000016.10:g.(?_88837602)_(88842849_?)del
|
|
|
|
NC_000016.10:g.(?_88840972)_(88842849_?)del
|
|
|
|
NC_000016.10:g.(?_88856738)_(88856897_?)del
|
|
|
|
NC_000016.10:g.88770428_88832724del
|
|
|
|
NC_000016.10:g.88779266_88827672del
|
|
|
|
NC_000016.10:g.88832102del
|
rs2142999219
|
|
|
NC_000016.10:g.88856801_88856960del
|
|
|
|
NC_000016.9:g.(?_88798723)_(88909257_?)dup
|
|
|
|
NC_000016.9:g.(?_88851289)_(88909257_?)del
|
|
|
|
NC_000016.9:g.(?_88880847)_(88880953_?)del
|
|
|
|
NC_000016.9:g.(?_88880847)_(88884552_?)del
|
|
|
|
NC_000016.9:g.(?_88880847)_(88893266_?)del
|
|
|
|
NC_000016.9:g.(?_88880847)_(88898529_?)del
|
|
|
|
NC_000016.9:g.(?_88884395)_(88884552_?)del
|
|
|
|
NC_000016.9:g.(?_88884395)_(88909257_?)del
|
|
|
|
NC_000016.9:g.(?_88888977)_(88898676_?)del
|
|
|
|
NC_000016.9:g.(?_88893090)_(88904193_?)del
|
|
|
|
NC_000016.9:g.(?_88898386)_(88909257_?)del
|
|
|
|
NC_000016.9:g.(?_88901601)_(88923285_?)del
|
|
|
|
NC_000016.9:g.(?_88907380)_(88923285_?)del
|
|
|
|
NC_000016.9:g.(?_88908285)_(88908399_?)dup
|
|
|
|
NC_000016.9:g.(?_88908285)_(88909257_?)del
|
|
|
|
NC_000016.9:g.(?_88923146)_(88923285_?)del
|
|
|
|
NM_000512.4(GALNS):c.413T>C (p.Val138Ala)
|
rs118204436
|
|
|
NM_000512.5(GALNS):c.*123G>C
|
rs886052453
|
|
|
NM_000512.5(GALNS):c.*212C>A
|
rs117754023
|
|
|
NM_000512.5(GALNS):c.*261T>G
|
rs915733731
|
|
|
NM_000512.5(GALNS):c.*270T>C
|
rs1909389591
|
|
|
NM_000512.5(GALNS):c.*387T>G
|
rs1909377767
|
|
|
NM_000512.5(GALNS):c.*520C>A
|
rs80125890
|
|
|
NM_000512.5(GALNS):c.*70T>C
|
rs933630786
|
|
|
NM_000512.5(GALNS):c.-10C>G
|
rs781533703
|
|
|
NM_000512.5(GALNS):c.-1_6delinsT (p.Met1_Ala2del)
|
rs2143013673
|
|
|
NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)
|
|
|
|
NM_000512.5(GALNS):c.-42G>T
|
rs1433642862
|
|
|
NM_000512.5(GALNS):c.-58C>A
|
rs1244075467
|
|
|
NM_000512.5(GALNS):c.-58C>G
|
rs1244075467
|
|
|
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)
|
rs1567526805
|
|
|
NM_000512.5(GALNS):c.1002+16C>G
|
|
|
|
NM_000512.5(GALNS):c.1002+16C>T
|
|
|
|
NM_000512.5(GALNS):c.1002+19G>C
|
|
|
|
NM_000512.5(GALNS):c.1002+19G>T
|
|
|
|
NM_000512.5(GALNS):c.1002+307G>C
|
rs866140272
|
|
|
NM_000512.5(GALNS):c.1002+4A>T
|
|
|
|
NM_000512.5(GALNS):c.1002+7C>G
|
|
|
|
NM_000512.5(GALNS):c.1002+8A>G
|
|
|
|
NM_000512.5(GALNS):c.1003-1570G>T
|
rs2142996885
|
|
|
NM_000512.5(GALNS):c.1003-16C>T
|
|
|
|
NM_000512.5(GALNS):c.1003-2A>C
|
rs1344555845
|
|
|
NM_000512.5(GALNS):c.1003-3C>G
|
rs760239741
|
|
|
NM_000512.5(GALNS):c.1009del (p.His337fs)
|
rs2142995881
|
|
|
NM_000512.5(GALNS):c.100C>G (p.Leu34Val)
|
rs1352806619
|
|
|
NM_000512.5(GALNS):c.100C>T (p.Leu34=)
|
|
|
|
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)
|
rs794726887
|
|
|
NM_000512.5(GALNS):c.1011C>T (p.His337=)
|
|
|
|
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg)
|
rs1244322663
|
|
|
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
|
|
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
|
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)
|
|
|
|
NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)
|
|
|
|
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg)
|
rs2142995871
|
|
|
NM_000512.5(GALNS):c.1027A>T (p.Met343Leu)
|
rs1910977435
|
|
|
NM_000512.5(GALNS):c.102G>C (p.Leu34=)
|
|
|
|
NM_000512.5(GALNS):c.102G>T (p.Leu34=)
|
|
|
|
NM_000512.5(GALNS):c.1030G>A (p.Asp344Asn)
|
rs2142995864
|
|
|
NM_000512.5(GALNS):c.1032C>G (p.Asp344Glu)
|
rs1407467035
|
|
|
NM_000512.5(GALNS):c.1034T>C (p.Leu345Pro)
|
rs2142995853
|
|
|
NM_000512.5(GALNS):c.1035C>T (p.Leu345=)
|
|
|
|
NM_000512.5(GALNS):c.1038C>A (p.Phe346Leu)
|
rs766504053
|
|
|
NM_000512.5(GALNS):c.1038C>T (p.Phe346=)
|
|
|
|
NM_000512.5(GALNS):c.1042A>G (p.Thr348Ala)
|
rs1597547797
|
|
|
NM_000512.5(GALNS):c.1043C>A (p.Thr348Asn)
|
rs368305568
|
|
|
NM_000512.5(GALNS):c.1046del (p.Ser349fs)
|
rs2142995845
|
|
|
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro)
|
rs1910973930
|
|
|
NM_000512.5(GALNS):c.1050G>C (p.Leu350=)
|
|
|
|
NM_000512.5(GALNS):c.1051G>T (p.Ala351Ser)
|
|
|
|
NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro)
|
rs2142995830
|
|
|
NM_000512.5(GALNS):c.1058C>A (p.Ala353Glu)
|
rs774113183
|
|
|
NM_000512.5(GALNS):c.1058C>T (p.Ala353Val)
|
rs774113183
|
|
|
NM_000512.5(GALNS):c.105C>A (p.Leu35=)
|
|
|
|
NM_000512.5(GALNS):c.105C>G (p.Leu35=)
|
|
|
|
NM_000512.5(GALNS):c.1068G>A (p.Thr356=)
|
|
|
|
NM_000512.5(GALNS):c.1070del (p.Pro357fs)
|
rs2142995810
|
|
|
NM_000512.5(GALNS):c.1071G>T (p.Pro357=)
|
rs374619390
|
|
|
NM_000512.5(GALNS):c.1077C>T (p.Ser359=)
|
|
|
|
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)
|
rs755832705
|
|
|
NM_000512.5(GALNS):c.1082G>T (p.Arg361Met)
|
rs2142995799
|
|
|
NM_000512.5(GALNS):c.1083G>A (p.Arg361=)
|
rs2142995796
|
|
|
NM_000512.5(GALNS):c.1086C>T (p.Ala362=)
|
rs2142995793
|
|
|
NM_000512.5(GALNS):c.1088T>C (p.Ile363Thr)
|
|
|
|
NM_000512.5(GALNS):c.1094G>T (p.Gly365Val)
|
rs2142995782
|
|
|
NM_000512.5(GALNS):c.1095C>T (p.Gly365=)
|
|
|
|
NM_000512.5(GALNS):c.1097T>C (p.Leu366Pro)
|
rs971227692
|
|
|
NM_000512.5(GALNS):c.1101C>T (p.Asn367=)
|
|
|
|
NM_000512.5(GALNS):c.1104C>A (p.Leu368=)
|
|
|
|
NM_000512.5(GALNS):c.1104C>T (p.Leu368=)
|
rs1322856128
|
|
|
NM_000512.5(GALNS):c.1106T>C (p.Leu369Pro)
|
rs2142995771
|
|
|
NM_000512.5(GALNS):c.1110C>T (p.Pro370=)
|
|
|
|
NM_000512.5(GALNS):c.1113C>G (p.Thr371=)
|
|
|
|
NM_000512.5(GALNS):c.1113C>T (p.Thr371=)
|
rs375098009
|
|
|
NM_000512.5(GALNS):c.1114del (p.Leu372fs)
|
rs2142995760
|
|
|
NM_000512.5(GALNS):c.1119G>C (p.Leu373=)
|
|
|
|
NM_000512.5(GALNS):c.111C>T (p.Leu37=)
|
|
|
|
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter)
|
rs761455237
|
|
|
NM_000512.5(GALNS):c.1122G>A (p.Gln374=)
|
|
|
|
NM_000512.5(GALNS):c.112A>C (p.Met38Leu)
|
rs1306083557
|
|
|
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly)
|
rs770908172
|
|
|
NM_000512.5(GALNS):c.1139+14C>T
|
|
|
|
NM_000512.5(GALNS):c.1139+18C>A
|
|
|
|
NM_000512.5(GALNS):c.1139+1G>A
|
rs765608680
|
|
|
NM_000512.5(GALNS):c.1139+20del
|
|
|
|
NM_000512.5(GALNS):c.1139+2T>C
|
|
|
|
NM_000512.5(GALNS):c.1139G>A (p.Arg380Lys)
|
|
|
|
NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr)
|
rs2142995734
|
|
|
NM_000512.5(GALNS):c.1140-10C>G
|
|
|
|
NM_000512.5(GALNS):c.1140-14C>T
|
|
|
|
NM_000512.5(GALNS):c.1140-15C>T
|
rs1910644710
|
|
|
NM_000512.5(GALNS):c.1140-20C>T
|
|
|
|
NM_000512.5(GALNS):c.1140-2A>G
|
|
|
|
NM_000512.5(GALNS):c.1140-5C>T
|
rs1181279151
|
|
|
NM_000512.5(GALNS):c.1140G>T (p.Arg380Ser)
|
rs200763834
|
|
|
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)
|
rs2142993896
|
|
|
NM_000512.5(GALNS):c.1142del (p.Pro381fs)
|
rs746086649
|
|
|
NM_000512.5(GALNS):c.1146C>T (p.Ile382=)
|
|
|
|
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)
|
rs1426905479
|
|
|
NM_000512.5(GALNS):c.1156C>A (p.Arg386Ser)
|
rs118204437
|
|
|
NM_000512.5(GALNS):c.1159G>A (p.Gly387Ser)
|
rs1910641750
|
|
|
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr)
|
rs2143013504
|
|
|
NM_000512.5(GALNS):c.115_116del (p.Asp39fs)
|
rs1967936031
|
|
|
NM_000512.5(GALNS):c.1160G>A (p.Gly387Asp)
|
|
|
|
NM_000512.5(GALNS):c.1164C>T (p.Asp388=)
|
|
|
|
NM_000512.5(GALNS):c.1166C>T (p.Thr389Met)
|
|
|
|
NM_000512.5(GALNS):c.1167G>A (p.Thr389=)
|
|
|
|
NM_000512.5(GALNS):c.1168del (p.Thr389_Leu390insTer)
|
rs2142993865
|
|
|
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)
|
rs2142993863
|
|
|
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly)
|
rs1967935882
|
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
|
NM_000512.5(GALNS):c.1176_1177delinsAT (p.Ala393Ser)
|
rs2142993851
|
|
|
NM_000512.5(GALNS):c.1177_1178insT (p.Ala393fs)
|
rs2142993846
|
|
|
NM_000512.5(GALNS):c.1180A>C (p.Thr394Pro)
|
rs2142993839
|
|
|
NM_000512.5(GALNS):c.1183C>G (p.Leu395Val)
|
rs767701478
|
|
|
NM_000512.5(GALNS):c.1184T>C (p.Leu395Pro)
|
rs1227964288
|
|
|
NM_000512.5(GALNS):c.1185C>T (p.Leu395=)
|
|
|
|
NM_000512.5(GALNS):c.1188del (p.Gln397fs)
|
rs2142993827
|
|
|
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)
|
rs1967935603
|
|
|
NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)
|
|
|
|
NM_000512.5(GALNS):c.1192C>G (p.His398Asp)
|
rs1910635964
|
|
|
NM_000512.5(GALNS):c.1192del (p.His398fs)
|
rs1910636198
|
|
|
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr)
|
rs1267791852
|
|
|
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)
|
rs1267791852
|
|
|
NM_000512.5(GALNS):c.1196del (p.Lys399fs)
|
rs2142993816
|
|
|
NM_000512.5(GALNS):c.119A>G (p.Asp40Gly)
|
rs1967935467
|
|
|
NM_000512.5(GALNS):c.120+12C>G
|
|
|
|
NM_000512.5(GALNS):c.120+12C>T
|
|
|
|
NM_000512.5(GALNS):c.120+13G>A
|
|
|
|
NM_000512.5(GALNS):c.120+13G>C
|
|
|
|
NM_000512.5(GALNS):c.120+13G>T
|
|
|
|
NM_000512.5(GALNS):c.120+19A>C
|
|
|
|
NM_000512.5(GALNS):c.120+19_120+29del
|
|
|
|
NM_000512.5(GALNS):c.120+1G>A
|
rs911877265
|
|
|
NM_000512.5(GALNS):c.120+1G>C
|
rs911877265
|
|
|
NM_000512.5(GALNS):c.120+20C>T
|
|
|
|
NM_000512.5(GALNS):c.120+4A>G
|
rs1213209894
|
|
|
NM_000512.5(GALNS):c.120+8C>G
|
|
|
|
NM_000512.5(GALNS):c.120+9G>T
|
|
|
|
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr)
|
rs2142993806
|
|
|
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1])
|
rs1567519128
|
|
|
NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter)
|
rs2142993804
|
|
|
NM_000512.5(GALNS):c.1209_1210delinsTT (p.Trp403_Thr404delinsCysSer)
|
rs2142993802
|
|
|
NM_000512.5(GALNS):c.121-10T>C
|
|
|
|
NM_000512.5(GALNS):c.121-12T>C
|
|
|
|
NM_000512.5(GALNS):c.121-157C>T
|
|
|
|
NM_000512.5(GALNS):c.121-16G>A
|
|
|
|
NM_000512.5(GALNS):c.121-16G>C
|
|
|
|
NM_000512.5(GALNS):c.121-16G>T
|
rs113230137
|
|
|
NM_000512.5(GALNS):c.121-17C>T
|
|
|
|
NM_000512.5(GALNS):c.121-18C>A
|
|
|
|
NM_000512.5(GALNS):c.121-18C>G
|
|
|
|
NM_000512.5(GALNS):c.121-19C>T
|
|
|
|
NM_000512.5(GALNS):c.121-1G>A
|
rs1312522259
|
|
|
NM_000512.5(GALNS):c.121-1G>C
|
rs1312522259
|
|
|
NM_000512.5(GALNS):c.121-1G>T
|
rs1312522259
|
|
|
NM_000512.5(GALNS):c.121-202A>G
|
rs550044789
|
|
|
NM_000512.5(GALNS):c.121-20C>T
|
|
|
|
NM_000512.5(GALNS):c.121-2A>G
|
rs1567538216
|
|
|
NM_000512.5(GALNS):c.121-2_121-1insTGCATTTGCTGGCATA
|
|
|
|
NM_000512.5(GALNS):c.121-338_244+1del
|
|
|
|
NM_000512.5(GALNS):c.121-5T>C
|
|
|
|
NM_000512.5(GALNS):c.121-6C>T
|
|
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
|
NM_000512.5(GALNS):c.121-9T>G
|
rs2143005573
|
|
|
NM_000512.5(GALNS):c.1210A>C (p.Thr404Pro)
|
rs2142993800
|
|
|
NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter)
|
rs2142993795
|
|
|
NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter)
|
rs2142993793
|
|
|
NM_000512.5(GALNS):c.1221C>G (p.Asn407Lys)
|
rs2142993785
|
|
|
NM_000512.5(GALNS):c.1226G>C (p.Trp409Ser)
|
rs2142993782
|
|
|
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)
|
rs1555523411
|
|
|
NM_000512.5(GALNS):c.1241dup (p.Ile416fs)
|
rs1910631809
|
|
|
NM_000512.5(GALNS):c.1242+10T>C
|
|
|
|
NM_000512.5(GALNS):c.1242+11C>T
|
|
|
|
NM_000512.5(GALNS):c.1242+12G>A
|
|
|
|
NM_000512.5(GALNS):c.1242+12G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+13G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+17G>T
|
|
|
|
NM_000512.5(GALNS):c.1242+18T>G
|
|
|
|
NM_000512.5(GALNS):c.1242+19G>T
|
|
|
|
NM_000512.5(GALNS):c.1242+1G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+1G>T
|
rs2142993764
|
|
|
NM_000512.5(GALNS):c.1242+20G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+7G>C
|
|
|
|
NM_000512.5(GALNS):c.1242+8G>A
|
|
|
|
NM_000512.5(GALNS):c.1243-10C>G
|
rs886052455
|
|
|
NM_000512.5(GALNS):c.1243-10C>T
|
|
|
|
NM_000512.5(GALNS):c.1243-17C>A
|
|
|
|
NM_000512.5(GALNS):c.1243-17C>T
|
|
|
|
NM_000512.5(GALNS):c.1243-1G>A
|
rs1597535277
|
|
|
NM_000512.5(GALNS):c.1243-1G>C
|
rs1597535277
|
|
|
NM_000512.5(GALNS):c.1243-2A>C
|
rs2142992422
|
|
|
NM_000512.5(GALNS):c.1243-4G>T
|
|
|
|
NM_000512.5(GALNS):c.1244G>T (p.Gly415Val)
|
rs2142992416
|
|
|
NM_000512.5(GALNS):c.1258C>T (p.Pro420Ser)
|
rs1341980746
|
|
|
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)
|
rs752937387
|
|
|
NM_000512.5(GALNS):c.1259del (p.Pro420fs)
|
rs2142992407
|
|
|
NM_000512.5(GALNS):c.125G>A (p.Gly42Glu)
|
rs2143005560
|
|
|
NM_000512.5(GALNS):c.1261G>A (p.Gly421Arg)
|
rs2142992406
|
|
|
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu)
|
rs2142992401
|
|
|
NM_000512.5(GALNS):c.1263G>A (p.Gly421=)
|
|
|
|
NM_000512.5(GALNS):c.1264C>A (p.Gln422Lys)
|
rs1295162107
|
|
|
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter)
|
rs1295162107
|
|
|
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
|
|
|
|
NM_000512.5(GALNS):c.1275del (p.Val427fs)
|
rs2142992383
|
|
|
NM_000512.5(GALNS):c.1278G>A (p.Gly426=)
|
|
|
|
NM_000512.5(GALNS):c.1279del (p.Val427fs)
|
rs2142992372
|
|
|
NM_000512.5(GALNS):c.1289dup (p.His430fs)
|
|
|
|
NM_000512.5(GALNS):c.1290_1291del (p.His430fs)
|
rs2142992359
|
|
|
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs)
|
|
|
|
NM_000512.5(GALNS):c.1308G>A (p.Thr436=)
|
|
|
|
NM_000512.5(GALNS):c.1314G>A (p.Leu438=)
|
|
|
|
NM_000512.5(GALNS):c.1314G>C (p.Leu438=)
|
|
|
|
NM_000512.5(GALNS):c.1317C>T (p.Pro439=)
|
|
|
|
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs)
|
|
|
|
NM_000512.5(GALNS):c.131G>T (p.Gly44Val)
|
rs1237852382
|
|
|
NM_000512.5(GALNS):c.1329C>T (p.His443=)
|
rs1411737981
|
|
|
NM_000512.5(GALNS):c.1333G>T (p.Gly445Ter)
|
|
|
|
NM_000512.5(GALNS):c.1334G>A (p.Gly445Glu)
|
rs2142992321
|
|
|
NM_000512.5(GALNS):c.1335A>G (p.Gly445=)
|
rs2142992319
|
|
|
NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)
|
|
|
|
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg)
|
rs1910352262
|
|
|
NM_000512.5(GALNS):c.1347G>A (p.Gly449=)
|
rs759760397
|
|
|
NM_000512.5(GALNS):c.1349A>G (p.Glu450Gly)
|
rs2142992313
|
|
|
NM_000512.5(GALNS):c.1349A>T (p.Glu450Val)
|
rs2142992313
|
|
|
NM_000512.5(GALNS):c.134A>G (p.Asp45Gly)
|
rs1967040455
|
|
|
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)
|
rs398123432
|
|
|
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu)
|
rs398123432
|
|
|
NM_000512.5(GALNS):c.1355dup (p.Leu454fs)
|
rs1472489567
|
|
|
NM_000512.5(GALNS):c.1356C>T (p.Phe452=)
|
rs2142992304
|
|
|
NM_000512.5(GALNS):c.1359C>T (p.Pro453=)
|
|
|
|
NM_000512.5(GALNS):c.1361T>C (p.Leu454Pro)
|
rs2142992298
|
|
|
NM_000512.5(GALNS):c.1364+11G>A
|
|
|
|
NM_000512.5(GALNS):c.1364+14G>C
|
rs1400572799
|
|
|
NM_000512.5(GALNS):c.1364+15G>C
|
|
|
|
NM_000512.5(GALNS):c.1364+17C>T
|
|
|
|
NM_000512.5(GALNS):c.1364+1G>A
|
rs773746427
|
|
|
NM_000512.5(GALNS):c.1364+2_1364+15del
|
|
|
|
NM_000512.5(GALNS):c.1364+7C>T
|
|
|
|
NM_000512.5(GALNS):c.1365-10C>T
|
|
|
|
NM_000512.5(GALNS):c.1365-14CT[2]
|
|
|
|
NM_000512.5(GALNS):c.1365-17G>C
|
|
|
|
NM_000512.5(GALNS):c.1365-19C>T
|
|
|
|
NM_000512.5(GALNS):c.1365-1G>A
|
rs1909832718
|
|
|
NM_000512.5(GALNS):c.1365-1G>C
|
rs1909832718
|
|
|
NM_000512.5(GALNS):c.1365-20C>G
|
|
|
|
NM_000512.5(GALNS):c.1365-2A>G
|
|
|
|
NM_000512.5(GALNS):c.1365-4C>G
|
rs558654277
|
|
|
NM_000512.5(GALNS):c.1365-9T>C
|
|
|
|
NM_000512.5(GALNS):c.1374dup (p.Ala459fs)
|
|
|
|
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
|
|
|
|
NM_000512.5(GALNS):c.1392C>A (p.Ala464=)
|
|
|
|
NM_000512.5(GALNS):c.1398C>T (p.Ser466=)
|
|
|
|
NM_000512.5(GALNS):c.139G>C (p.Gly47Arg)
|
rs199638097
|
|
|
NM_000512.5(GALNS):c.1401_1422dup (p.His475fs)
|
|
|
|
NM_000512.5(GALNS):c.1407C>G (p.Thr469=)
|
|
|
|
NM_000512.5(GALNS):c.1408T>C (p.Ser470Pro)
|
rs2142982603
|
|
|
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.1410G>C (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.1410G>T (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)
|
rs118204439
|
|
|
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)
|
rs1909825123
|
|
|
NM_000512.5(GALNS):c.141G>A (p.Gly47=)
|
|
|
|
NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter)
|
rs1330564240
|
|
|
NM_000512.5(GALNS):c.1422G>A (p.Gln474=)
|
|
|
|
NM_000512.5(GALNS):c.1423C>A (p.His475Asn)
|
rs749297663
|
|
|
NM_000512.5(GALNS):c.1427A>C (p.Gln476Pro)
|
rs1597524240
|
|
|
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)
|
rs1909818289
|
|
|
NM_000512.5(GALNS):c.142G>A (p.Val48Met)
|
rs1377186614
|
|
|
NM_000512.5(GALNS):c.1434C>T (p.Ala478=)
|
|
|
|
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)
|
rs191519947
|
|
|
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)
|
rs191519947
|
|
|
NM_000512.5(GALNS):c.1440C>T (p.Val480=)
|
|
|
|
NM_000512.5(GALNS):c.1446G>A (p.Ala482=)
|
|
|
|
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter)
|
rs2142982313
|
|
|
NM_000512.5(GALNS):c.144G>A (p.Val48=)
|
|
|
|
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)
|
rs1204485789
|
|
|
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)
|
rs1482155729
|
|
|
NM_000512.5(GALNS):c.1458C>T (p.Leu486=)
|
|
|
|
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)
|
rs118204440
|
|
|
NM_000512.5(GALNS):c.1460A>T (p.Asn487Ile)
|
rs118204440
|
|
|
NM_000512.5(GALNS):c.1461C>A (p.Asn487Lys)
|
rs1273463889
|
|
|
NM_000512.5(GALNS):c.1464G>A (p.Val488=)
|
|
|
|
NM_000512.5(GALNS):c.1467C>T (p.Cys489=)
|
|
|
|
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)
|
|
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
|
NM_000512.5(GALNS):c.147T>C (p.Tyr49=)
|
|
|
|
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)
|
rs2142982062
|
|
|
NM_000512.5(GALNS):c.1482+1G>A
|
rs2142982054
|
|
|
NM_000512.5(GALNS):c.1482+2T>C
|
|
|
|
NM_000512.5(GALNS):c.1482+5G>A
|
rs2142982032
|
|
|
NM_000512.5(GALNS):c.1482+5G>C
|
|
|
|
NM_000512.5(GALNS):c.1482+9C>T
|
|
|
|
NM_000512.5(GALNS):c.1483-12T>C
|
|
|
|
NM_000512.5(GALNS):c.1483-13T>G
|
|
|
|
NM_000512.5(GALNS):c.1483-17C>T
|
|
|
|
NM_000512.5(GALNS):c.1483-19C>T
|
|
|
|
NM_000512.5(GALNS):c.1483-2A>C
|
|
|
|
NM_000512.5(GALNS):c.1483-2A>G
|
rs2142967340
|
|
|
NM_000512.5(GALNS):c.1483-9A>G
|
|
|
|
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
|
|
|
|
NM_000512.5(GALNS):c.1488G>A (p.Trp496Ter)
|
|
|
|
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys)
|
rs1355113466
|
|
|
NM_000512.5(GALNS):c.148G>A (p.Gly50Arg)
|
rs2143005530
|
|
|
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
|
NM_000512.5(GALNS):c.1497G>A (p.Pro499=)
|
|
|
|
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys)
|
rs1303492021
|
|
|
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr)
|
rs948490589
|
|
|
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)
|
rs948490589
|
|
|
NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs)
|
rs753053516
|
|
|
NM_000512.5(GALNS):c.1509G>A (p.Lys503=)
|
|
|
|
NM_000512.5(GALNS):c.1510T>C (p.Leu504=)
|
|
|
|
NM_000512.5(GALNS):c.1515del (p.Lys506fs)
|
|
|
|
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)
|
rs1567509070
|
|
|
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys)
|
rs1296755011
|
|
|
NM_000512.5(GALNS):c.1520G>A (p.Cys507Tyr)
|
|
|
|
NM_000512.5(GALNS):c.1522C>T (p.Leu508=)
|
|
|
|
NM_000512.5(GALNS):c.1523T>C (p.Leu508Pro)
|
rs2142967000
|
|
|
NM_000512.5(GALNS):c.1527A>G (p.Thr509=)
|
|
|
|
NM_000512.5(GALNS):c.1531C>G (p.Pro511Ala)
|
|
|
|
NM_000512.5(GALNS):c.1531C>T (p.Pro511Ser)
|
|
|
|
NM_000512.5(GALNS):c.1536A>G (p.Glu512=)
|
|
|
|
NM_000512.5(GALNS):c.154_165del (p.Pro52_Glu55del)
|
rs2143005515
|
|
|
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe)
|
rs1597515354
|
|
|
NM_000512.5(GALNS):c.1557C>G (p.Leu519=)
|
|
|
|
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
|
rs2143005523
|
|
|
NM_000512.5(GALNS):c.1560G>A (p.Trp520Ter)
|
rs2142966686
|
|
|
NM_000512.5(GALNS):c.1563C>A (p.Ser521=)
|
|
|
|
NM_000512.5(GALNS):c.1563C>T (p.Ser521=)
|
|
|
|
NM_000512.5(GALNS):c.1566C>T (p.His522=)
|
|
|
|
NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln)
|
rs1348149236
|
|
|
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu)
|
rs1348149236
|
|
|
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp)
|
rs2142966615
|
|
|
NM_000512.5(GALNS):c.156C>G (p.Pro52=)
|
|
|
|
NM_000512.5(GALNS):c.158C>T (p.Ser53Phe)
|
rs1421990673
|
|
|
NM_000512.5(GALNS):c.159C>T (p.Ser53=)
|
|
|
|
NM_000512.5(GALNS):c.15C>A (p.Val5=)
|
|
|
|
NM_000512.5(GALNS):c.168C>A (p.Thr56=)
|
|
|
|
NM_000512.5(GALNS):c.170C>T (p.Pro57Leu)
|
|
|
|
NM_000512.5(GALNS):c.171G>A (p.Pro57=)
|
|
|
|
NM_000512.5(GALNS):c.173A>G (p.Asn58Ser)
|
|
|
|
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
|
|
|
|
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly)
|
rs145798311
|
|
|
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
|
|
|
|
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)
|
|
|
|
NM_000512.5(GALNS):c.18G>T (p.Ala6=)
|
|
|
|
NM_000512.5(GALNS):c.190_191delinsAT (p.Ala64Ile)
|
rs2143005495
|
|
|
NM_000512.5(GALNS):c.192A>C (p.Ala64=)
|
|
|
|
NM_000512.5(GALNS):c.196G>C (p.Gly66Arg)
|
rs1967035346
|
|
|
NM_000512.5(GALNS):c.205T>G (p.Phe69Val)
|
rs118204445
|
|
|
NM_000512.5(GALNS):c.210A>G (p.Pro70=)
|
|
|
|
NM_000512.5(GALNS):c.210_221del (p.Asn71_Ser74del)
|
rs2143005478
|
|
|
NM_000512.5(GALNS):c.211A>G (p.Asn71Asp)
|
|
|
|
NM_000512.5(GALNS):c.213C>G (p.Asn71Lys)
|
|
|
|
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys)
|
rs398123435
|
|
|
NM_000512.5(GALNS):c.21G>A (p.Ala7=)
|
|
|
|
NM_000512.5(GALNS):c.21G>C (p.Ala7=)
|
|
|
|
NM_000512.5(GALNS):c.221C>T (p.Ser74Phe)
|
rs2143005475
|
|
|
NM_000512.5(GALNS):c.224C>G (p.Ala75Gly)
|
rs2143005473
|
|
|
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys)
|
rs147599478
|
|
|
NM_000512.5(GALNS):c.228C>G (p.Asn76Lys)
|
rs147599478
|
|
|
NM_000512.5(GALNS):c.229C>T (p.Pro77Ser)
|
rs201278722
|
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
|
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
|
|
|
|
NM_000512.5(GALNS):c.234G>A (p.Leu78=)
|
|
|
|
NM_000512.5(GALNS):c.235_236del (p.Cys79fs)
|
rs2143005467
|
|
|
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr)
|
rs1263679818
|
|
|
NM_000512.5(GALNS):c.239C>G (p.Ser80Trp)
|
rs1209154325
|
|
|
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
|
NM_000512.5(GALNS):c.23C>G (p.Thr8Arg)
|
rs2143013653
|
|
|
NM_000512.5(GALNS):c.240G>T (p.Ser80=)
|
|
|
|
NM_000512.5(GALNS):c.242C>T (p.Pro81Leu)
|
rs2143005457
|
|
|
NM_000512.5(GALNS):c.244+10C>T
|
|
|
|
NM_000512.5(GALNS):c.244+11G>A
|
|
|
|
NM_000512.5(GALNS):c.244+14G>T
|
|
|
|
NM_000512.5(GALNS):c.244+14del
|
|
|
|
NM_000512.5(GALNS):c.244+17C>T
|
|
|
|
NM_000512.5(GALNS):c.244+1G>T
|
rs2143005452
|
|
|
NM_000512.5(GALNS):c.244+8A>G
|
|
|
|
NM_000512.5(GALNS):c.244+9G>C
|
|
|
|
NM_000512.5(GALNS):c.245-10C>G
|
|
|
|
NM_000512.5(GALNS):c.245-11C>G
|
rs552476248
|
|
|
NM_000512.5(GALNS):c.245-13C>T
|
|
|
|
NM_000512.5(GALNS):c.245-15G>A
|
|
|
|
NM_000512.5(GALNS):c.245-15G>C
|
|
|
|
NM_000512.5(GALNS):c.245-17C>T
|
|
|
|
NM_000512.5(GALNS):c.245-25TTCTGT[3]
|
|
|
|
NM_000512.5(GALNS):c.245-2A>G
|
rs1352162269
|
|
|
NM_000512.5(GALNS):c.245-4A>G
|
|
|
|
NM_000512.5(GALNS):c.245-5C>T
|
|
|
|
NM_000512.5(GALNS):c.245-7C>T
|
|
|
|
NM_000512.5(GALNS):c.245_248del
|
|
|
|
NM_000512.5(GALNS):c.246G>A (p.Ser82=)
|
|
|
|
NM_000512.5(GALNS):c.24G>C (p.Thr8=)
|
|
|
|
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu)
|
rs141340188
|
|
|
NM_000512.5(GALNS):c.252G>C (p.Ala84=)
|
|
|
|
NM_000512.5(GALNS):c.253G>A (p.Ala85Thr)
|
rs2143005122
|
|
|
NM_000512.5(GALNS):c.257T>C (p.Leu86Pro)
|
rs2143005116
|
|
|
NM_000512.5(GALNS):c.258G>A (p.Leu86=)
|
|
|
|
NM_000512.5(GALNS):c.260T>C (p.Leu87Pro)
|
rs1418948853
|
|
|
NM_000512.5(GALNS):c.263C>T (p.Thr88Ile)
|
rs2143005111
|
|
|
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)
|
rs1160480473
|
|
|
NM_000512.5(GALNS):c.267A>C (p.Gly89=)
|
|
|
|
NM_000512.5(GALNS):c.268C>G (p.Arg90Gly)
|
rs1028668536
|
|
|
NM_000512.5(GALNS):c.272T>C (p.Leu91Pro)
|
rs2143005099
|
|
|
NM_000512.5(GALNS):c.274C>T (p.Pro92Ser)
|
rs2143005097
|
|
|
NM_000512.5(GALNS):c.278T>C (p.Ile93Thr)
|
rs1966993165
|
|
|
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly)
|
rs118204441
|
|
|
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)
|
rs727503946
|
|
|
NM_000512.5(GALNS):c.283A>G (p.Asn95Asp)
|
|
|
|
NM_000512.5(GALNS):c.285dup (p.Gly96fs)
|
|
|
|
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)
|
rs2143005086
|
|
|
NM_000512.5(GALNS):c.287G>T (p.Gly96Val)
|
rs1966992597
|
|
|
NM_000512.5(GALNS):c.288C>G (p.Gly96=)
|
|
|
|
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)
|
rs2143005083
|
|
|
NM_000512.5(GALNS):c.290T>C (p.Phe97Ser)
|
|
|
|
NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)
|
|
|
|
NM_000512.5(GALNS):c.296C>T (p.Thr99Ile)
|
rs2143005081
|
|
|
NM_000512.5(GALNS):c.298A>C (p.Thr100Pro)
|
rs1597581827
|
|
|
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)
|
rs1967945316
|
|
|
NM_000512.5(GALNS):c.2T>C (p.Met1Thr)
|
|
|
|
NM_000512.5(GALNS):c.301A>G (p.Asn101Asp)
|
|
|
|
NM_000512.5(GALNS):c.306C>T (p.Ala102=)
|
|
|
|
NM_000512.5(GALNS):c.309T>C (p.His103=)
|
|
|
|
NM_000512.5(GALNS):c.312C>G (p.Ala104=)
|
rs1293637427
|
|
|
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)
|
rs2143005072
|
|
|
NM_000512.5(GALNS):c.317A>G (p.Asn106Ser)
|
rs2143005070
|
|
|
NM_000512.5(GALNS):c.319+10_319+11dup
|
|
|
|
NM_000512.5(GALNS):c.319+14C>T
|
|
|
|
NM_000512.5(GALNS):c.319+15G>A
|
|
|
|
NM_000512.5(GALNS):c.319+15G>T
|
rs777179922
|
|
|
NM_000512.5(GALNS):c.319+16C>T
|
|
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
|
NM_000512.5(GALNS):c.319G>C (p.Ala107Pro)
|
rs763184657
|
|
|
NM_000512.5(GALNS):c.319G>T (p.Ala107Ser)
|
rs763184657
|
|
|
NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)
|
|
|
|
NM_000512.5(GALNS):c.320-14C>T
|
|
|
|
NM_000512.5(GALNS):c.320-18C>T
|
|
|
|
NM_000512.5(GALNS):c.320-1G>C
|
rs1245504167
|
|
|
NM_000512.5(GALNS):c.320-7C>T
|
|
|
|
NM_000512.5(GALNS):c.320-9C>T
|
|
|
|
NM_000512.5(GALNS):c.323A>G (p.Tyr108Cys)
|
rs1256041500
|
|
|
NM_000512.5(GALNS):c.326C>T (p.Thr109Ile)
|
rs2143004681
|
|
|
NM_000512.5(GALNS):c.330G>T (p.Pro110=)
|
|
|
|
NM_000512.5(GALNS):c.332A>G (p.Gln111Arg)
|
rs2143004671
|
|
|
NM_000512.5(GALNS):c.334del (p.Glu112fs)
|
rs2143004665
|
|
|
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
|
|
|
|
NM_000512.5(GALNS):c.339T>C (p.Ile113=)
|
|
|
|
NM_000512.5(GALNS):c.345C>T (p.Gly115=)
|
|
|
|
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser)
|
rs1444754604
|
|
|
NM_000512.5(GALNS):c.347G>T (p.Gly116Val)
|
rs1966945369
|
|
|
NM_000512.5(GALNS):c.348C>T (p.Gly116=)
|
|
|
|
NM_000512.5(GALNS):c.34C>T (p.Gln12Ter)
|
rs911452920
|
|
|
NM_000512.5(GALNS):c.363G>A (p.Glu121=)
|
|
|
|
NM_000512.5(GALNS):c.363G>C (p.Glu121Asp)
|
rs780986116
|
|
|
NM_000512.5(GALNS):c.364C>T (p.Gln122Ter)
|
|
|
|
NM_000512.5(GALNS):c.370C>T (p.Leu124=)
|
|
|
|
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
|
|
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
|
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu)
|
rs746949976
|
|
|
NM_000512.5(GALNS):c.374del (p.Pro125fs)
|
|
|
|
NM_000512.5(GALNS):c.375G>A (p.Pro125=)
|
|
|
|
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln)
|
rs1177468816
|
|
|
NM_000512.5(GALNS):c.378G>A (p.Glu126=)
|
|
|
|
NM_000512.5(GALNS):c.384G>A (p.Leu128=)
|
|
|
|
NM_000512.5(GALNS):c.385A>T (p.Lys129Ter)
|
rs2143004624
|
|
|
NM_000512.5(GALNS):c.385AAG[1] (p.Lys130del)
|
|
|
|
NM_000512.5(GALNS):c.387G>A (p.Lys129=)
|
|
|
|
NM_000512.5(GALNS):c.398A>C (p.Tyr133Ser)
|
rs1379268067
|
|
|
NM_000512.5(GALNS):c.3G>A (p.Met1Ile)
|
rs2143013681
|
|
|
NM_000512.5(GALNS):c.405C>G (p.Ser135Arg)
|
rs2143004605
|
|
|
NM_000512.5(GALNS):c.405_422+1del
|
rs398123437
|
|
|
NM_000512.5(GALNS):c.409_420del (p.Ile137_Lys140del)
|
rs2143004592
|
|
|
NM_000512.5(GALNS):c.409_422+5del
|
rs2143004580
|
|
|
NM_000512.5(GALNS):c.411T>C (p.Ile137=)
|
|
|
|
NM_000512.5(GALNS):c.414C>G (p.Val138=)
|
|
|
|
NM_000512.5(GALNS):c.414C>T (p.Val138=)
|
|
|
|
NM_000512.5(GALNS):c.416G>A (p.Gly139Asp)
|
rs2143004596
|
|
|
NM_000512.5(GALNS):c.417C>G (p.Gly139=)
|
|
|
|
NM_000512.5(GALNS):c.420G>A (p.Lys140=)
|
|
|
|
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)
|
rs794727625
|
|
|
NM_000512.5(GALNS):c.422+10C>T
|
|
|
|
NM_000512.5(GALNS):c.422+14C>T
|
|
|
|
NM_000512.5(GALNS):c.422+18G>A
|
|
|
|
NM_000512.5(GALNS):c.422+19C>G
|
|
|
|
NM_000512.5(GALNS):c.422+1G>A
|
rs1966940003
|
|
|
NM_000512.5(GALNS):c.422+1G>T
|
rs1966940003
|
|
|
NM_000512.5(GALNS):c.422+20C>T
|
|
|
|
NM_000512.5(GALNS):c.422+2T>G
|
rs2143004585
|
|
|
NM_000512.5(GALNS):c.422+2_422+8del
|
rs764529662
|
|
|
NM_000512.5(GALNS):c.422+2dup
|
rs2143004586
|
|
|
NM_000512.5(GALNS):c.422+9C>G
|
|
|
|
NM_000512.5(GALNS):c.423-11_425del
|
|
|
|
NM_000512.5(GALNS):c.423-14G>A
|
|
|
|
NM_000512.5(GALNS):c.423-15G>C
|
|
|
|
NM_000512.5(GALNS):c.423-16G>A
|
|
|
|
NM_000512.5(GALNS):c.423-1G>A
|
rs2143002474
|
|
|
NM_000512.5(GALNS):c.423-20T>C
|
|
|
|
NM_000512.5(GALNS):c.423-4C>T
|
|
|
|
NM_000512.5(GALNS):c.423-5del
|
|
|
|
NM_000512.5(GALNS):c.423-862C>T
|
rs1597575641
|
|
|
NM_000512.5(GALNS):c.423-8G>A
|
|
|
|
NM_000512.5(GALNS):c.423-8G>C
|
rs111613055
|
|
|
NM_000512.5(GALNS):c.423G>T (p.Trp141Cys)
|
rs2143002473
|
|
|
NM_000512.5(GALNS):c.424C>A (p.His142Asn)
|
rs2143002472
|
|
|
NM_000512.5(GALNS):c.424_566+1del
|
rs2143002309
|
|
|
NM_000512.5(GALNS):c.425A>C (p.His142Pro)
|
rs1288895691
|
|
|
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
|
rs1288895691
|
|
|
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
|
rs1288895691
|
|
|
NM_000512.5(GALNS):c.426T>A (p.His142Gln)
|
rs754616917
|
|
|
NM_000512.5(GALNS):c.42G>A (p.Leu14=)
|
|
|
|
NM_000512.5(GALNS):c.433C>T (p.His145Tyr)
|
rs577334837
|
|
|
NM_000512.5(GALNS):c.43C>A (p.Leu15Met)
|
rs866745731
|
|
|
NM_000512.5(GALNS):c.442C>T (p.Gln148Ter)
|
rs2143002464
|
|
|
NM_000512.5(GALNS):c.444_449del (p.Gln148_Phe149del)
|
rs2143002451
|
|
|
NM_000512.5(GALNS):c.446T>G (p.Phe149Cys)
|
rs2143002458
|
|
|
NM_000512.5(GALNS):c.447C>T (p.Phe149=)
|
|
|
|
NM_000512.5(GALNS):c.448C>T (p.His150Tyr)
|
rs1168278189
|
|
|
NM_000512.5(GALNS):c.450C>T (p.His150=)
|
|
|
|
NM_000512.5(GALNS):c.451C>T (p.Pro151Ser)
|
rs781439830
|
|
|
NM_000512.5(GALNS):c.452C>G (p.Pro151Arg)
|
rs559063128
|
|
|
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
|
|
|
|
NM_000512.5(GALNS):c.45G>A (p.Leu15=)
|
|
|
|
NM_000512.5(GALNS):c.460C>A (p.His154Asn)
|
|
|
|
NM_000512.5(GALNS):c.462C>T (p.His154=)
|
|
|
|
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)
|
rs2143002437
|
|
|
NM_000512.5(GALNS):c.465A>G (p.Gly155=)
|
|
|
|
NM_000512.5(GALNS):c.467T>C (p.Phe156Ser)
|
rs1301146300
|
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
|
NM_000512.5(GALNS):c.46G>T (p.Val16Leu)
|
|
|
|
NM_000512.5(GALNS):c.471T>C (p.Asp157=)
|
|
|
|
NM_000512.5(GALNS):c.472G>T (p.Glu158Ter)
|
rs2143002428
|
|
|
NM_000512.5(GALNS):c.473_477del (p.Glu158fs)
|
rs2143002427
|
|
|
NM_000512.5(GALNS):c.477G>T (p.Trp159Cys)
|
rs398123439
|
|
|
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)
|
rs794729202
|
|
|
NM_000512.5(GALNS):c.480T>C (p.Phe160=)
|
|
|
|
NM_000512.5(GALNS):c.482G>A (p.Gly161Glu)
|
rs2143002420
|
|
|
NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)
|
|
|
|
NM_000512.5(GALNS):c.488C>A (p.Pro163His)
|
rs2143002411
|
|
|
NM_000512.5(GALNS):c.488C>T (p.Pro163Leu)
|
|
|
|
NM_000512.5(GALNS):c.489del (p.Asn164fs)
|
rs1328983959
|
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
|
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser)
|
rs761725425
|
|
|
NM_000512.5(GALNS):c.493_531del (p.Cys165_Asn177del)
|
|
|
|
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr)
|
rs768757999
|
|
|
NM_000512.5(GALNS):c.497A>G (p.His166Arg)
|
rs2143002394
|
|
|
NM_000512.5(GALNS):c.498C>G (p.His166Gln)
|
rs1301198698
|
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
|
NM_000512.5(GALNS):c.501dup (p.Gly168fs)
|
rs2143002383
|
|
|
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter)
|
rs775732598
|
|
|
NM_000512.5(GALNS):c.502_503delinsTT (p.Gly168Leu)
|
rs2143002376
|
|
|
NM_000512.5(GALNS):c.503G>T (p.Gly168Val)
|
rs2143002375
|
|
|
NM_000512.5(GALNS):c.508T>C (p.Tyr170His)
|
rs2143002372
|
|
|
NM_000512.5(GALNS):c.510T>A (p.Tyr170Ter)
|
|
|
|
NM_000512.5(GALNS):c.512A>C (p.Asp171Ala)
|
rs2143002367
|
|
|
NM_000512.5(GALNS):c.513CAA[1] (p.Asn172del)
|
|
|
|
NM_000512.5(GALNS):c.519G>A (p.Lys173=)
|
|
|
|
NM_000512.5(GALNS):c.529A>C (p.Asn177His)
|
rs2143002349
|
|
|
NM_000512.5(GALNS):c.530A>G (p.Asn177Ser)
|
rs2143002347
|
|
|
NM_000512.5(GALNS):c.532_533del (p.Ile178fs)
|
rs2143002345
|
|
|
NM_000512.5(GALNS):c.535C>T (p.Pro179Ser)
|
rs2143002341
|
|
|
NM_000512.5(GALNS):c.536C>A (p.Pro179His)
|
rs1912278519
|
|
|
NM_000512.5(GALNS):c.536C>T (p.Pro179Leu)
|
rs1912278519
|
|
|
NM_000512.5(GALNS):c.540G>A (p.Val180=)
|
|
|
|
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)
|
rs786205899
|
|
|
NM_000512.5(GALNS):c.544A>C (p.Arg182=)
|
|
|
|
NM_000512.5(GALNS):c.546G>A (p.Arg182=)
|
|
|
|
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)
|
rs2143002331
|
|
|
NM_000512.5(GALNS):c.552G>A (p.Trp184Ter)
|
|
|
|
NM_000512.5(GALNS):c.554A>G (p.Glu185Gly)
|
rs2143002324
|
|
|
NM_000512.5(GALNS):c.554del (p.Glu185fs)
|
rs2143002326
|
|
|
NM_000512.5(GALNS):c.555G>A (p.Glu185=)
|
|
|
|
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)
|
rs2143002317
|
|
|
NM_000512.5(GALNS):c.563G>A (p.Gly188Asp)
|
rs2143002315
|
|
|
NM_000512.5(GALNS):c.566+11C>T
|
|
|
|
NM_000512.5(GALNS):c.566+12C>T
|
|
|
|
NM_000512.5(GALNS):c.566+13C>T
|
|
|
|
NM_000512.5(GALNS):c.566+16C>G
|
|
|
|
NM_000512.5(GALNS):c.566+16C>T
|
|
|
|
NM_000512.5(GALNS):c.566+17C>T
|
|
|
|
NM_000512.5(GALNS):c.566+1G>A
|
|
|
|
NM_000512.5(GALNS):c.566+6G>A
|
rs1912274502
|
|
|
NM_000512.5(GALNS):c.566+9G>A
|
|
|
|
NM_000512.5(GALNS):c.567-13G>A
|
|
|
|
NM_000512.5(GALNS):c.567-14T>C
|
|
|
|
NM_000512.5(GALNS):c.567-14T>G
|
|
|
|
NM_000512.5(GALNS):c.567-15C>T
|
|
|
|
NM_000512.5(GALNS):c.567-17A>G
|
|
|
|
NM_000512.5(GALNS):c.567-1G>T
|
rs143428106
|
|
|
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys)
|
rs886042058
|
|
|
NM_000512.5(GALNS):c.570T>G (p.Tyr190Ter)
|
|
|
|
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)
|
rs2143001744
|
|
|
NM_000512.5(GALNS):c.572A>G (p.Tyr191Cys)
|
rs2143001742
|
|
|
NM_000512.5(GALNS):c.573T>C (p.Tyr191=)
|
|
|
|
NM_000512.5(GALNS):c.579A>G (p.Glu193=)
|
|
|
|
NM_000512.5(GALNS):c.587T>A (p.Ile196Asn)
|
rs759502513
|
|
|
NM_000512.5(GALNS):c.592C>T (p.Leu198=)
|
|
|
|
NM_000512.5(GALNS):c.597G>A (p.Lys199=)
|
rs1293689169
|
|
|
NM_000512.5(GALNS):c.600G>A (p.Thr200=)
|
|
|
|
NM_000512.5(GALNS):c.600G>T (p.Thr200=)
|
|
|
|
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
|
|
|
|
NM_000512.5(GALNS):c.604del (p.Glu202fs)
|
rs1382823339
|
|
|
NM_000512.5(GALNS):c.608C>T (p.Ala203Val)
|
rs2143001722
|
|
|
NM_000512.5(GALNS):c.609C>A (p.Ala203=)
|
|
|
|
NM_000512.5(GALNS):c.609C>T (p.Ala203=)
|
|
|
|
NM_000512.5(GALNS):c.60G>A (p.Ala20=)
|
|
|
|
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr)
|
rs569725936
|
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
|
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)
|
rs118204435
|
|
|
NM_000512.5(GALNS):c.612C>T (p.Asn204=)
|
|
|
|
NM_000512.5(GALNS):c.615C>A (p.Leu205=)
|
|
|
|
NM_000512.5(GALNS):c.618C>T (p.Thr206=)
|
|
|
|
NM_000512.5(GALNS):c.627C>G (p.Tyr209Ter)
|
rs2143001706
|
|
|
NM_000512.5(GALNS):c.631C>T (p.Gln211Ter)
|
rs1912124497
|
|
|
NM_000512.5(GALNS):c.633+13G>A
|
|
|
|
NM_000512.5(GALNS):c.633+13G>C
|
rs200292757
|
|
|
NM_000512.5(GALNS):c.633+13G>T
|
|
|
|
NM_000512.5(GALNS):c.633+13dup
|
|
|
|
NM_000512.5(GALNS):c.633+15A>G
|
|
|
|
NM_000512.5(GALNS):c.633+16C>T
|
|
|
|
NM_000512.5(GALNS):c.633+9del
|
|
|
|
NM_000512.5(GALNS):c.634-14G>T
|
|
|
|
NM_000512.5(GALNS):c.634-1G>A
|
rs2143001463
|
|
|
NM_000512.5(GALNS):c.634-1G>T
|
rs2143001463
|
|
|
NM_000512.5(GALNS):c.634-5C>G
|
rs1354095513
|
|
|
NM_000512.5(GALNS):c.639C>T (p.Ala213=)
|
|
|
|
NM_000512.5(GALNS):c.63G>T (p.Gly21=)
|
|
|
|
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
|
|
|
|
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu)
|
rs2143001453
|
|
|
NM_000512.5(GALNS):c.648_649insTGTGGCTCTCTCCATAGGAAGCCCTGGACTCCT (p.Phe216_Ile217insCysGlySerLeuHisArgLysProTrpThrPro)
|
|
|
|
NM_000512.5(GALNS):c.654G>A (p.Lys218=)
|
|
|
|
NM_000512.5(GALNS):c.657A>G (p.Arg219=)
|
|
|
|
NM_000512.5(GALNS):c.658C>T (p.Gln220Ter)
|
rs1456807949
|
|
|
NM_000512.5(GALNS):c.666G>A (p.Arg222=)
|
|
|
|
NM_000512.5(GALNS):c.666_667insTGTGGCTCTCTCCATAGGAAGCCCTGGACTCCT (p.Arg222_His223insCysGlySerLeuHisArgLysProTrpThrPro)
|
|
|
|
NM_000512.5(GALNS):c.672C>T (p.His224=)
|
|
|
|
NM_000512.5(GALNS):c.675_676del (p.Phe227fs)
|
rs2143001422
|
|
|
NM_000512.5(GALNS):c.675dup (p.Phe226fs)
|
|
|
|
NM_000512.5(GALNS):c.676T>C (p.Phe226Leu)
|
rs1375452799
|
|
|
NM_000512.5(GALNS):c.678T>C (p.Phe226=)
|
|
|
|
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)
|
rs2143001417
|
|
|
NM_000512.5(GALNS):c.67G>C (p.Gly23Arg)
|
rs2143013593
|
|
|
NM_000512.5(GALNS):c.680del (p.Phe227fs)
|
rs2143001415
|
|
|
NM_000512.5(GALNS):c.684C>T (p.Leu228=)
|
|
|
|
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
|
|
|
|
NM_000512.5(GALNS):c.686A>C (p.Tyr229Ser)
|
rs554190546
|
|
|
NM_000512.5(GALNS):c.688T>G (p.Trp230Gly)
|
rs2143001411
|
|
|
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter)
|
rs118204449
|
|
|
NM_000512.5(GALNS):c.690G>T (p.Trp230Cys)
|
rs2143001410
|
|
|
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
|
|
|
|
NM_000512.5(GALNS):c.693T>C (p.Ala231=)
|
|
|
|
NM_000512.5(GALNS):c.696C>T (p.Val232=)
|
|
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
|
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
|
|
|
|
NM_000512.5(GALNS):c.702C>T (p.Ala234=)
|
|
|
|
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys)
|
rs398123440
|
|
|
NM_000512.5(GALNS):c.704C>T (p.Thr235Met)
|
|
|
|
NM_000512.5(GALNS):c.705G>A (p.Thr235=)
|
|
|
|
NM_000512.5(GALNS):c.705G>T (p.Thr235=)
|
|
|
|
NM_000512.5(GALNS):c.706C>G (p.His236Asp)
|
rs1228027865
|
|
|
NM_000512.5(GALNS):c.707A>C (p.His236Pro)
|
rs398123441
|
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
|
NM_000512.5(GALNS):c.707_708inv (p.His236Arg)
|
|
|
|
NM_000512.5(GALNS):c.708del (p.His236fs)
|
rs2143001400
|
|
|
NM_000512.5(GALNS):c.711_714dup (p.Val239fs)
|
rs2143001391
|
|
|
NM_000512.5(GALNS):c.714C>G (p.Pro238=)
|
|
|
|
NM_000512.5(GALNS):c.714C>T (p.Pro238=)
|
|
|
|
NM_000512.5(GALNS):c.715G>T (p.Val239Phe)
|
rs145131011
|
|
|
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
|
|
|
|
NM_000512.5(GALNS):c.717C>A (p.Val239=)
|
|
|
|
NM_000512.5(GALNS):c.722C>A (p.Ala241Asp)
|
rs2143001386
|
|
|
NM_000512.5(GALNS):c.723C>G (p.Ala241=)
|
|
|
|
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys)
|
rs2143001380
|
|
|
NM_000512.5(GALNS):c.732C>G (p.Pro244=)
|
|
|
|
NM_000512.5(GALNS):c.744C>G (p.Thr248=)
|
|
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
|
|
NM_000512.5(GALNS):c.753A>T (p.Arg251=)
|
|
|
|
NM_000512.5(GALNS):c.754G>A (p.Gly252Arg)
|
|
|
|
NM_000512.5(GALNS):c.758+12C>A
|
|
|
|
NM_000512.5(GALNS):c.758+15C>T
|
|
|
|
NM_000512.5(GALNS):c.758+17T>C
|
|
|
|
NM_000512.5(GALNS):c.758+1G>A
|
rs1363382746
|
|
|
NM_000512.5(GALNS):c.758+1G>C
|
rs1363382746
|
|
|
NM_000512.5(GALNS):c.758+3G>A
|
|
|
|
NM_000512.5(GALNS):c.758+4A>T
|
rs2143001351
|
|
|
NM_000512.5(GALNS):c.758+7C>T
|
|
|
|
NM_000512.5(GALNS):c.759-15G>C
|
|
|
|
NM_000512.5(GALNS):c.759-16del
|
|
|
|
NM_000512.5(GALNS):c.759-2A>G
|
rs2143001213
|
|
|
NM_000512.5(GALNS):c.759-7C>A
|
|
|
|
NM_000512.5(GALNS):c.75G>C (p.Ser25=)
|
|
|
|
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys)
|
rs2143001210
|
|
|
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter)
|
rs770815269
|
|
|
NM_000512.5(GALNS):c.762T>G (p.Tyr254Ter)
|
|
|
|
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala)
|
rs1912009292
|
|
|
NM_000512.5(GALNS):c.768C>T (p.Asp256=)
|
|
|
|
NM_000512.5(GALNS):c.775C>G (p.Arg259Gly)
|
rs61742258
|
|
|
NM_000512.5(GALNS):c.777G>A (p.Arg259=)
|
|
|
|
NM_000512.5(GALNS):c.778G>A (p.Glu260Lys)
|
rs2143001194
|
|
|
NM_000512.5(GALNS):c.779A>T (p.Glu260Val)
|
|
|
|
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp)
|
rs1210023208
|
|
|
NM_000512.5(GALNS):c.77dup (p.Ala27fs)
|
rs2143013573
|
|
|
NM_000512.5(GALNS):c.780G>C (p.Glu260Asp)
|
rs2143001191
|
|
|
NM_000512.5(GALNS):c.786T>C (p.Asp262=)
|
|
|
|
NM_000512.5(GALNS):c.791G>A (p.Ser264Asn)
|
rs2143001182
|
|
|
NM_000512.5(GALNS):c.791G>C (p.Ser264Thr)
|
rs2143001182
|
|
|
NM_000512.5(GALNS):c.812T>C (p.Leu271Pro)
|
rs1912001607
|
|
|
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter)
|
rs2143001165
|
|
|
NM_000512.5(GALNS):c.81C>T (p.Ala27=)
|
|
|
|
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)
|
rs2143001162
|
|
|
NM_000512.5(GALNS):c.828C>G (p.His276Gln)
|
rs759216815
|
|
|
NM_000512.5(GALNS):c.831C>T (p.Val277=)
|
|
|
|
NM_000512.5(GALNS):c.834G>A (p.Ala278=)
|
|
|
|
NM_000512.5(GALNS):c.835del (p.Asp279fs)
|
|
|
|
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
|
rs1389218771
|
|
|
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del)
|
rs1567530426
|
|
|
NM_000512.5(GALNS):c.848T>C (p.Val283Ala)
|
|
|
|
NM_000512.5(GALNS):c.84G>C (p.Pro28=)
|
|
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
|
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
|
|
|
|
NM_000512.5(GALNS):c.85C>T (p.Gln29Ter)
|
rs1287332192
|
|
|
NM_000512.5(GALNS):c.861G>A (p.Ser287=)
|
|
|
|
NM_000512.5(GALNS):c.863A>G (p.Asp288Gly)
|
rs2143001134
|
|
|
NM_000512.5(GALNS):c.863del (p.Asp288fs)
|
rs2143001135
|
|
|
NM_000512.5(GALNS):c.865A>C (p.Asn289His)
|
rs1314520034
|
|
|
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp)
|
rs1314520034
|
|
|
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)
|
rs1465096387
|
|
|
NM_000512.5(GALNS):c.867C>T (p.Asn289=)
|
|
|
|
NM_000512.5(GALNS):c.868G>C (p.Gly290Arg)
|
rs975409254
|
|
|
NM_000512.5(GALNS):c.869G>A (p.Gly290Asp)
|
rs1214775986
|
|
|
NM_000512.5(GALNS):c.870C>T (p.Gly290=)
|
|
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
|
NM_000512.5(GALNS):c.872C>A (p.Ala291Asp)
|
rs2143001123
|
|
|
NM_000512.5(GALNS):c.874del (p.Ala292fs)
|
rs2143001121
|
|
|
NM_000512.5(GALNS):c.87G>A (p.Gln29=)
|
|
|
|
NM_000512.5(GALNS):c.882T>A (p.Ile294=)
|
|
|
|
NM_000512.5(GALNS):c.886G>A (p.Ala296Thr)
|
|
|
|
NM_000512.5(GALNS):c.888C>T (p.Ala296=)
|
|
|
|
NM_000512.5(GALNS):c.891C>T (p.Pro297=)
|
|
|
|
NM_000512.5(GALNS):c.892G>T (p.Glu298Ter)
|
rs767319971
|
|
|
NM_000512.5(GALNS):c.892del (p.Glu298fs)
|
|
|
|
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter)
|
rs2143001103
|
|
|
NM_000512.5(GALNS):c.898+11G>A
|
|
|
|
NM_000512.5(GALNS):c.898+12C>A
|
|
|
|
NM_000512.5(GALNS):c.898+13T>C
|
|
|
|
NM_000512.5(GALNS):c.898+2T>A
|
|
|
|
NM_000512.5(GALNS):c.898+7G>A
|
|
|
|
NM_000512.5(GALNS):c.898+8C>T
|
|
|
|
NM_000512.5(GALNS):c.899-12C>T
|
|
|
|
NM_000512.5(GALNS):c.899-14C>A
|
rs771269427
|
|
|
NM_000512.5(GALNS):c.899-167A>G
|
rs2142999330
|
|
|
NM_000512.5(GALNS):c.899-169_899-166del
|
|
|
|
NM_000512.5(GALNS):c.899-19A>T
|
|
|
|
NM_000512.5(GALNS):c.899-1G>T
|
|
|
|
NM_000512.5(GALNS):c.899-20C>T
|
|
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
|
NM_000512.5(GALNS):c.899-2A>G
|
rs1165218506
|
|
|
NM_000512.5(GALNS):c.899-397_1003-1862del
|
|
|
|
NM_000512.5(GALNS):c.899-5C>T
|
|
|
|
NM_000512.5(GALNS):c.899-9C>G
|
|
|
|
NM_000512.5(GALNS):c.899G>T (p.Gly300Val)
|
rs780778562
|
|
|
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)
|
rs1298604798
|
|
|
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp)
|
rs776715466
|
|
|
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys)
|
rs751446283
|
|
|
NM_000512.5(GALNS):c.90C>G (p.Pro30=)
|
rs1967938638
|
|
|
NM_000512.5(GALNS):c.911G>A (p.Gly304Asp)
|
rs758439379
|
|
|
NM_000512.5(GALNS):c.912C>T (p.Gly304=)
|
|
|
|
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)
|
rs2142999207
|
|
|
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser)
|
rs759590432
|
|
|
NM_000512.5(GALNS):c.919C>A (p.Leu307Met)
|
rs2142999203
|
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|
|
NM_000512.5(GALNS):c.922T>C (p.Cys308Arg)
|
rs2142999197
|
|
|
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp)
|
rs1567526988
|
|
|
NM_000512.5(GALNS):c.925G>A (p.Gly309Arg)
|
rs2142999191
|
|
|
NM_000512.5(GALNS):c.927G>A (p.Gly309=)
|
|
|
|
NM_000512.5(GALNS):c.930G>A (p.Lys310=)
|
|
|
|
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn)
|
rs377285422
|
|
|
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala)
|
rs2142999186
|
|
|
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser)
|
rs2142999186
|
|
|
NM_000512.5(GALNS):c.937A>G (p.Thr313Ala)
|
rs2142999184
|
|
|
NM_000512.5(GALNS):c.939G>A (p.Thr313=)
|
|
|
|
NM_000512.5(GALNS):c.93del (p.Asn32fs)
|
|
|
|
NM_000512.5(GALNS):c.940T>G (p.Phe314Val)
|
rs774781295
|
|
|
NM_000512.5(GALNS):c.943G>A (p.Glu315Lys)
|
rs2142999177
|
|
|
NM_000512.5(GALNS):c.943G>C (p.Glu315Gln)
|
rs2142999177
|
|
|
NM_000512.5(GALNS):c.947G>T (p.Gly316Val)
|
rs1057518404
|
|
|
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg)
|
rs556060696
|
|
|
NM_000512.5(GALNS):c.94A>G (p.Asn32Asp)
|
rs2143013538
|
|
|
NM_000512.5(GALNS):c.950G>A (p.Gly317Glu)
|
rs2142999169
|
|
|
NM_000512.5(GALNS):c.951dup (p.Met318fs)
|
rs2142999166
|
|
|
NM_000512.5(GALNS):c.952A>G (p.Met318Val)
|
rs537013895
|
|
|
NM_000512.5(GALNS):c.956G>C (p.Arg319Thr)
|
rs377744312
|
|
|
NM_000512.5(GALNS):c.958G>A (p.Glu320Lys)
|
rs2142999156
|
|
|
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)
|
rs773933657
|
|
|
NM_000512.5(GALNS):c.960G>T (p.Glu320Asp)
|
rs1213435795
|
|
|
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro)
|
rs1597559500
|
|
|
NM_000512.5(GALNS):c.969C>G (p.Leu323=)
|
|
|
|
NM_000512.5(GALNS):c.96C>T (p.Asn32=)
|
|
|
|
NM_000512.5(GALNS):c.970G>T (p.Ala324Ser)
|
rs569725890
|
|
|
NM_000512.5(GALNS):c.971C>A (p.Ala324Glu)
|
rs2142999148
|
|
|
NM_000512.5(GALNS):c.972A>G (p.Ala324=)
|
|
|
|
NM_000512.5(GALNS):c.973TGG[1] (p.Trp326del)
|
rs2142999135
|
|
|
NM_000512.5(GALNS):c.974G>A (p.Trp325Ter)
|
rs2142999142
|
|
|
NM_000512.5(GALNS):c.975G>T (p.Trp325Cys)
|
rs1269110043
|
|
|
NM_000512.5(GALNS):c.976T>C (p.Trp326Arg)
|
|
|
|
NM_000512.5(GALNS):c.977G>C (p.Trp326Ser)
|
rs2142999137
|
|
|
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter)
|
rs1911558912
|
|
|
NM_000512.5(GALNS):c.984G>A (p.Gly328=)
|
|
|
|
NM_000512.5(GALNS):c.985C>A (p.His329Asn)
|
rs766548318
|
|
|
NM_000512.5(GALNS):c.998G>A (p.Gly333Asp)
|
rs1911555382
|
|
|
NM_000512.5(GALNS):c.9G>T (p.Ala3=)
|
|
|
|
NM_000512.5(GALNS):c.[1097T>C;451C>A]
|
|
|
|
NM_000512.5(GALNS):c.[1140-730_1365-1530del;121-2779_567-248del]
|
|
|
|
NM_000512.5:c.(120+1_121-1)_(244+1_245-1)del
|
|
|
|
NM_000512.5:c.(1242+1_1243-1)_(1364+1_1365-1)del
|
|
|
|
NM_000512.5:c.(1364+1_1365-1)_(1482+1_1483-1)del
|
|
|
|
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)del
|
|
|
|
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)dup
|
|
|
|
NM_000512.5:c.567_1002dup
|
|
|
|
Single allele
|
|
|