NM_000512.5(GALNS):c.199C>A (p.Leu67Met)
|
rs11862754
|
0.10099
|
NM_000512.5(GALNS):c.240G>A (p.Ser80=)
|
rs11865929
|
0.01724
|
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.723C>T (p.Ala241=)
|
rs117053987
|
0.00855
|
NM_000512.5(GALNS):c.775C>A (p.Arg259=)
|
rs61742258
|
0.00707
|
NM_000512.5(GALNS):c.1003-42C>T
|
rs139088253
|
0.00674
|
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)
|
rs112454391
|
0.00404
|
NM_000512.5(GALNS):c.759-67G>A
|
rs565875595
|
0.00305
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
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.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
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.121-4G>A
|
rs200008960
|
0.00030
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
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.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
NM_000512.5(GALNS):c.887C>T (p.Ala296Val)
|
rs200371805
|
0.00006
|
NM_000512.5(GALNS):c.921G>T (p.Leu307=)
|
rs201986622
|
0.00006
|
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter)
|
rs372893383
|
0.00005
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
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.178G>A (p.Asp60Asn)
|
rs118204447
|
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.1059G>A (p.Ala353=)
|
rs768334388
|
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.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
|
rs190707335
|
0.00002
|
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr)
|
rs763184657
|
0.00002
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
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_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.1162G>A (p.Asp388Asn)
|
rs373739301
|
0.00001
|
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)
|
rs752339162
|
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.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
NM_000512.5(GALNS):c.1483-15A>G
|
rs1461992033
|
0.00001
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)
|
rs1303492021
|
0.00001
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)
|
rs1478665723
|
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.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.502G>A (p.Gly168Arg)
|
rs775732598
|
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.697G>A (p.Asp233Asn)
|
rs753051547
|
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.868G>A (p.Gly290Ser)
|
rs975409254
|
0.00001
|
NM_000512.5(GALNS):c.898+1G>C
|
rs761850746
|
0.00001
|
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)
|
rs758439379
|
0.00001
|
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
|
rs762154863
|
0.00001
|
NM_000512.4(GALNS):c.413T>C (p.Val138Ala)
|
rs118204436
|
|
NM_000512.5(GALNS):c.1003-3C>G
|
rs760239741
|
|
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp)
|
rs267606838
|
|
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly)
|
rs770908172
|
|
NM_000512.5(GALNS):c.1140-15C>T
|
rs1910644710
|
|
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)
|
rs2142993896
|
|
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter)
|
rs1426905479
|
|
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)
|
rs2142993863
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)
|
rs1267791852
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
NM_000512.5(GALNS):c.1228G>T (p.Glu410Ter)
|
rs1567519109
|
|
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)
|
rs1555523411
|
|
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)
|
rs752937387
|
|
NM_000512.5(GALNS):c.1290_1291del (p.His430fs)
|
rs2142992359
|
|
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)
|
rs398123432
|
|
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.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)
|
rs948490589
|
|
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)
|
rs1567509070
|
|
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
|
rs2143005523
|
|
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.177G>A (p.Leu59=)
|
|
|
NM_000512.5(GALNS):c.205T>G (p.Phe69Val)
|
rs118204445
|
|
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.239C>T (p.Ser80Leu)
|
rs1209154325
|
|
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu)
|
rs141340188
|
|
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.286G>T (p.Gly96Cys)
|
rs2143005086
|
|
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)
|
rs2143005083
|
|
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)
|
rs2143005072
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
NM_000512.5(GALNS):c.347G>T (p.Gly116Val)
|
rs1966945369
|
|
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.421T>A (p.Trp141Arg)
|
rs794727625
|
|
NM_000512.5(GALNS):c.423-1G>A
|
rs2143002474
|
|
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.426T>A (p.His142Gln)
|
rs754616917
|
|
NM_000512.5(GALNS):c.448C>T (p.His150Tyr)
|
rs1168278189
|
|
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
|
|
|
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)
|
rs2143002437
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
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.498C>G (p.His166Gln)
|
rs1301198698
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)
|
rs786205899
|
|
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)
|
rs2143002331
|
|
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)
|
rs2143002317
|
|
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)
|
rs2143001744
|
|
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.633+13G>C
|
rs200292757
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
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.715G>T (p.Val239Phe)
|
rs145131011
|
|
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys)
|
rs2143001380
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
|
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys)
|
rs2143001210
|
|
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)
|
rs2143001162
|
|
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
|
rs1389218771
|
|
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del)
|
rs768664270
|
|
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser)
|
rs1465096387
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser)
|
rs2142999186
|
|
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg)
|
rs556060696
|
|