NM_000153.4(GALC):c.*801A>T
|
rs114174103
|
0.01526
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
NM_000153.4(GALC):c.1788C>T (p.Phe596=)
|
rs115018138
|
0.00658
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_000153.4(GALC):c.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_000153.4(GALC):c.-463C>T
|
rs181956126
|
0.00254
|
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)
|
rs190921137
|
0.00248
|
NM_000153.4(GALC):c.1862G>A (p.Arg621His)
|
rs192911803
|
0.00224
|
NM_000153.4(GALC):c.1489+3G>A
|
rs186664912
|
0.00124
|
NM_000153.4(GALC):c.530C>A (p.Thr177Asn)
|
rs115869593
|
0.00116
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_000153.4(GALC):c.15A>G (p.Leu5=)
|
rs529350155
|
0.00088
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
NM_000153.4(GALC):c.1434G>A (p.Pro478=)
|
rs200231860
|
0.00042
|
NM_000153.4(GALC):c.49A>G (p.Met17Val)
|
rs376662045
|
0.00029
|
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)
|
rs200219480
|
0.00023
|
NM_000153.4(GALC):c.1272G>A (p.Gln424=)
|
rs376675180
|
0.00019
|
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys)
|
rs146286491
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000153.4(GALC):c.708C>T (p.Ser236=)
|
rs773666802
|
0.00017
|
NM_000153.4(GALC):c.1335A>G (p.Leu445=)
|
rs373277798
|
0.00015
|
NM_000153.4(GALC):c.1629C>T (p.Ala543=)
|
rs201055535
|
0.00015
|
NM_000153.4(GALC):c.2034C>T (p.Asn678=)
|
rs183869279
|
0.00013
|
NM_000153.4(GALC):c.60C>T (p.Ala20=)
|
rs188488238
|
0.00013
|
NM_000153.4(GALC):c.828T>C (p.Phe276=)
|
rs368679728
|
0.00010
|
NM_000153.4(GALC):c.1803A>G (p.Ala601=)
|
rs372465848
|
0.00009
|
NM_000153.4(GALC):c.909-4T>G
|
rs201884281
|
0.00009
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
NM_000153.4(GALC):c.1584C>T (p.Phe528=)
|
rs753565491
|
0.00006
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
NM_000153.4(GALC):c.1034-4A>G
|
rs775263627
|
0.00004
|
NM_000153.4(GALC):c.196-9T>C
|
rs776907825
|
0.00004
|
NM_000153.4(GALC):c.264+12A>G
|
rs199758464
|
0.00004
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
NM_000153.4(GALC):c.329-14T>C
|
rs375242461
|
0.00004
|
NM_000153.4(GALC):c.543C>T (p.Gly181=)
|
rs772338291
|
0.00004
|
NM_000153.4(GALC):c.639G>C (p.Leu213=)
|
rs373343608
|
0.00004
|
NM_000153.4(GALC):c.714C>T (p.Leu238=)
|
rs748497197
|
0.00004
|
NM_000153.4(GALC):c.1380A>G (p.Glu460=)
|
rs1370652050
|
0.00003
|
NM_000153.4(GALC):c.1791C>T (p.Phe597=)
|
rs1002946173
|
0.00003
|
NM_000153.4(GALC):c.348C>T (p.His116=)
|
rs756456886
|
0.00003
|
NM_000153.4(GALC):c.459C>T (p.Phe153=)
|
rs774472326
|
0.00003
|
NM_000153.4(GALC):c.462T>C (p.Pro154=)
|
rs748295031
|
0.00003
|
NM_000153.4(GALC):c.537T>C (p.Ile179=)
|
rs776341276
|
0.00003
|
NM_000153.4(GALC):c.723C>T (p.Ala241=)
|
rs778552414
|
0.00003
|
NM_000153.4(GALC):c.752+20G>C
|
rs375231645
|
0.00003
|
NM_000153.4(GALC):c.1188G>T (p.Arg396=)
|
rs1348158663
|
0.00002
|
NM_000153.4(GALC):c.1252-4A>G
|
rs371282554
|
0.00002
|
NM_000153.4(GALC):c.1252-5T>C
|
rs748772697
|
0.00002
|
NM_000153.4(GALC):c.1269A>G (p.Leu423=)
|
rs756070678
|
0.00002
|
NM_000153.4(GALC):c.1419C>T (p.Arg473=)
|
rs1231722280
|
0.00002
|
NM_000153.4(GALC):c.1587G>A (p.Thr529=)
|
rs184748969
|
0.00002
|
NM_000153.4(GALC):c.1671-8T>A
|
rs570766960
|
0.00002
|
NM_000153.4(GALC):c.1912-7A>G
|
rs376302808
|
0.00002
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
0.00002
|
NM_000153.4(GALC):c.57G>T (p.Ala19=)
|
rs1015595560
|
0.00002
|
NM_000153.4(GALC):c.583-4G>T
|
rs751820306
|
0.00002
|
NM_000153.4(GALC):c.610A>C (p.Asn204His)
|
rs372406289
|
0.00002
|
NM_000153.4(GALC):c.915C>T (p.Ile305=)
|
rs764592856
|
0.00002
|
NM_000153.4(GALC):c.990A>G (p.Pro330=)
|
rs370211494
|
0.00002
|
NM_000153.4(GALC):c.1005C>T (p.Tyr335=)
|
rs1319599087
|
0.00001
|
NM_000153.4(GALC):c.1014A>G (p.Glu338=)
|
rs371096411
|
0.00001
|
NM_000153.4(GALC):c.1027G>T (p.Val343Leu)
|
rs753217734
|
0.00001
|
NM_000153.4(GALC):c.108G>T (p.Leu36=)
|
rs923261706
|
0.00001
|
NM_000153.4(GALC):c.1146C>T (p.Ile382=)
|
rs769253796
|
0.00001
|
NM_000153.4(GALC):c.114G>T (p.Ala38=)
|
rs749514611
|
0.00001
|
NM_000153.4(GALC):c.117C>T (p.Pro39=)
|
rs962360205
|
0.00001
|
NM_000153.4(GALC):c.1191A>G (p.Pro397=)
|
rs376181222
|
0.00001
|
NM_000153.4(GALC):c.1251+7A>C
|
rs1257896807
|
0.00001
|
NM_000153.4(GALC):c.1252-9T>C
|
rs768173742
|
0.00001
|
NM_000153.4(GALC):c.1281T>C (p.Tyr427=)
|
rs758736879
|
0.00001
|
NM_000153.4(GALC):c.1332T>C (p.Ser444=)
|
rs1595198074
|
0.00001
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
NM_000153.4(GALC):c.1467C>T (p.Thr489=)
|
rs1885131050
|
0.00001
|
NM_000153.4(GALC):c.1489+9T>C
|
rs747839251
|
0.00001
|
NM_000153.4(GALC):c.1490-6G>A
|
rs773214484
|
0.00001
|
NM_000153.4(GALC):c.1551T>C (p.Phe517=)
|
rs1230432398
|
0.00001
|
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
|
rs753164684
|
0.00001
|
NM_000153.4(GALC):c.1575G>A (p.Glu525=)
|
rs755353417
|
0.00001
|
NM_000153.4(GALC):c.1670+10A>G
|
rs1050027845
|
0.00001
|
NM_000153.4(GALC):c.1695T>C (p.Asp565=)
|
rs1283585586
|
0.00001
|
NM_000153.4(GALC):c.1710C>G (p.Thr570=)
|
rs767710271
|
0.00001
|
NM_000153.4(GALC):c.1710C>T (p.Thr570=)
|
rs767710271
|
0.00001
|
NM_000153.4(GALC):c.1752A>G (p.Lys584=)
|
rs201016488
|
0.00001
|
NM_000153.4(GALC):c.1824A>G (p.Thr608=)
|
rs1220077307
|
0.00001
|
NM_000153.4(GALC):c.1835-20A>T
|
rs372755909
|
0.00001
|
NM_000153.4(GALC):c.1878A>C (p.Ala626=)
|
rs765726355
|
0.00001
|
NM_000153.4(GALC):c.1893A>G (p.Thr631=)
|
rs1157035657
|
0.00001
|
NM_000153.4(GALC):c.1896C>G (p.Leu632=)
|
rs1884764241
|
0.00001
|
NM_000153.4(GALC):c.1911+7A>G
|
rs1315938947
|
0.00001
|
NM_000153.4(GALC):c.1947T>C (p.Ser649=)
|
rs924881775
|
0.00001
|
NM_000153.4(GALC):c.196-7T>C
|
rs1302684850
|
0.00001
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
0.00001
|
NM_000153.4(GALC):c.201C>G (p.Thr67=)
|
rs1384569360
|
0.00001
|
NM_000153.4(GALC):c.2022A>G (p.Ala674=)
|
rs770785840
|
0.00001
|
NM_000153.4(GALC):c.2054G>A (p.Arg685His)
|
rs529469325
|
0.00001
|
NM_000153.4(GALC):c.247T>C (p.Leu83=)
|
rs753469861
|
0.00001
|
NM_000153.4(GALC):c.264+10A>G
|
rs781394926
|
0.00001
|
NM_000153.4(GALC):c.27C>T (p.Ser9=)
|
rs1397626290
|
0.00001
|
NM_000153.4(GALC):c.329-6A>G
|
rs1279980405
|
0.00001
|
NM_000153.4(GALC):c.387C>T (p.Tyr129=)
|
rs1240965365
|
0.00001
|
NM_000153.4(GALC):c.426C>T (p.Pro142=)
|
rs754765375
|
0.00001
|
NM_000153.4(GALC):c.450A>G (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.465A>G (p.Gly155=)
|
rs755488240
|
0.00001
|
NM_000153.4(GALC):c.483C>T (p.Phe161=)
|
rs373159695
|
0.00001
|
NM_000153.4(GALC):c.48T>C (p.Ala16=)
|
rs1198647597
|
0.00001
|
NM_000153.4(GALC):c.600A>G (p.Ser200=)
|
rs777493633
|
0.00001
|
NM_000153.4(GALC):c.621+11_621+13del
|
rs1567007639
|
0.00001
|
NM_000153.4(GALC):c.645T>C (p.Tyr215=)
|
rs1345934268
|
0.00001
|
NM_000153.4(GALC):c.705A>G (p.Ala235=)
|
rs771534115
|
0.00001
|
NM_000153.4(GALC):c.753-5T>C
|
rs745331282
|
0.00001
|
NM_000153.4(GALC):c.798T>C (p.Thr266=)
|
rs1482888449
|
0.00001
|
NM_000153.4(GALC):c.804G>A (p.Lys268=)
|
rs754144462
|
0.00001
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
NM_000153.4(GALC):c.855A>T (p.Ala285=)
|
rs1195240524
|
0.00001
|
NM_000153.4(GALC):c.957T>C (p.Tyr319=)
|
rs1158171614
|
0.00001
|
NM_000153.4(GALC):c.970T>C (p.Leu324=)
|
rs1194954694
|
0.00001
|
NM_000153.4(GALC):c.978G>A (p.Thr326=)
|
rs1214736198
|
0.00001
|
NM_000153.4(GALC):c.1002C>T (p.His334=)
|
|
|
NM_000153.4(GALC):c.1008G>A (p.Val336=)
|
|
|
NM_000153.4(GALC):c.1008G>T (p.Val336=)
|
|
|
NM_000153.4(GALC):c.1023C>G (p.Val341=)
|
rs2139996078
|
|
NM_000153.4(GALC):c.1029A>G (p.Val343=)
|
rs1389188299
|
|
NM_000153.4(GALC):c.1033+11G>A
|
|
|
NM_000153.4(GALC):c.1033+14C>G
|
|
|
NM_000153.4(GALC):c.1033+20C>T
|
|
|
NM_000153.4(GALC):c.1034-13T>C
|
|
|
NM_000153.4(GALC):c.1038T>C (p.His346=)
|
|
|
NM_000153.4(GALC):c.1047G>A (p.Gln349=)
|
rs1475461759
|
|
NM_000153.4(GALC):c.1056A>G (p.Gln352=)
|
|
|
NM_000153.4(GALC):c.1059T>C (p.Pro353=)
|
rs2139992186
|
|
NM_000153.4(GALC):c.105G>A (p.Ala35=)
|
|
|
NM_000153.4(GALC):c.1068T>C (p.Tyr356=)
|
rs1349405657
|
|
NM_000153.4(GALC):c.1086C>G (p.Gly362=)
|
rs2139992095
|
|
NM_000153.4(GALC):c.1092A>G (p.Leu364=)
|
|
|
NM_000153.4(GALC):c.1098A>G (p.Lys366=)
|
|
|
NM_000153.4(GALC):c.1110C>T (p.Tyr370=)
|
rs372793797
|
|
NM_000153.4(GALC):c.111G>C (p.Leu37=)
|
|
|
NM_000153.4(GALC):c.1131A>G (p.Leu377=)
|
rs2139991961
|
|
NM_000153.4(GALC):c.1149C>T (p.Ile383=)
|
rs2139991910
|
|
NM_000153.4(GALC):c.1161+20A>G
|
|
|
NM_000153.4(GALC):c.1161+7T>G
|
|
|
NM_000153.4(GALC):c.1162-10T>G
|
rs1368917874
|
|
NM_000153.4(GALC):c.1162-14T>C
|
|
|
NM_000153.4(GALC):c.1162-16G>C
|
|
|
NM_000153.4(GALC):c.1162-4T>C
|
|
|
NM_000153.4(GALC):c.1162-5T>C
|
rs2139963791
|
|
NM_000153.4(GALC):c.1162-5_1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1162-7T>C
|
|
|
NM_000153.4(GALC):c.1167T>C (p.His389=)
|
rs2139963723
|
|
NM_000153.4(GALC):c.1170A>G (p.Lys390=)
|
rs1885269944
|
|
NM_000153.4(GALC):c.117C>G (p.Pro39=)
|
rs962360205
|
|
NM_000153.4(GALC):c.1185A>T (p.Ile395=)
|
|
|
NM_000153.4(GALC):c.1186C>A (p.Arg396=)
|
rs770485731
|
|
NM_000153.4(GALC):c.1188G>A (p.Arg396=)
|
|
|
NM_000153.4(GALC):c.1200T>G (p.Pro400=)
|
|
|
NM_000153.4(GALC):c.1203T>C (p.Tyr401=)
|
|
|
NM_000153.4(GALC):c.1206C>T (p.Phe402=)
|
rs2139963547
|
|
NM_000153.4(GALC):c.1209T>C (p.Asn403=)
|
|
|
NM_000153.4(GALC):c.120C>A (p.Gly40=)
|
rs532800656
|
|
NM_000153.4(GALC):c.1227C>T (p.Ala409=)
|
rs2139963484
|
|
NM_000153.4(GALC):c.1239T>G (p.Leu413=)
|
|
|
NM_000153.4(GALC):c.1242G>A (p.Lys414=)
|
|
|
NM_000153.4(GALC):c.1251+19C>T
|
|
|
NM_000153.4(GALC):c.1251+9del
|
rs2139963339
|
|
NM_000153.4(GALC):c.1252-10T>G
|
rs1595198237
|
|
NM_000153.4(GALC):c.1252-13C>G
|
|
|
NM_000153.4(GALC):c.1252-6T>C
|
|
|
NM_000153.4(GALC):c.1252-7T>C
|
rs2139961710
|
|
NM_000153.4(GALC):c.1252-8C>A
|
rs1327279405
|
|
NM_000153.4(GALC):c.1252-9_1252-5del
|
|
|
NM_000153.4(GALC):c.1257A>G (p.Glu419=)
|
|
|
NM_000153.4(GALC):c.1266G>A (p.Glu422=)
|
|
|
NM_000153.4(GALC):c.1293A>G (p.Gly431=)
|
rs1033051287
|
|
NM_000153.4(GALC):c.1302C>G (p.Ser434=)
|
|
|
NM_000153.4(GALC):c.1305A>G (p.Glu435=)
|
rs2139961496
|
|
NM_000153.4(GALC):c.1308A>G (p.Arg436=)
|
|
|
NM_000153.4(GALC):c.1338+16A>T
|
rs1192426175
|
|
NM_000153.4(GALC):c.1338+16del
|
|
|
NM_000153.4(GALC):c.1338+19C>T
|
|
|
NM_000153.4(GALC):c.1339-10T>C
|
rs1566974690
|
|
NM_000153.4(GALC):c.1339-16G>A
|
|
|
NM_000153.4(GALC):c.1339-19G>T
|
|
|
NM_000153.4(GALC):c.1339-20A>G
|
|
|
NM_000153.4(GALC):c.1339-28_1339-12dup
|
|
|
NM_000153.4(GALC):c.1339-9_1339-8del
|
|
|
NM_000153.4(GALC):c.1347C>T (p.Asp449=)
|
|
|
NM_000153.4(GALC):c.1359T>C (p.Ser453=)
|
|
|
NM_000153.4(GALC):c.1362C>T (p.Phe454=)
|
rs2139956762
|
|
NM_000153.4(GALC):c.1366C>T (p.Leu456=)
|
rs2139956743
|
|
NM_000153.4(GALC):c.1371C>T (p.Ser457=)
|
rs2139956714
|
|
NM_000153.4(GALC):c.1374G>A (p.Leu458=)
|
rs375620970
|
|
NM_000153.4(GALC):c.1374G>T (p.Leu458=)
|
|
|
NM_000153.4(GALC):c.1383T>C (p.Asp461=)
|
rs2139956673
|
|
NM_000153.4(GALC):c.1386G>A (p.Glu462=)
|
|
|
NM_000153.4(GALC):c.1395A>G (p.Thr465=)
|
|
|
NM_000153.4(GALC):c.1398C>T (p.Leu466=)
|
rs2139956617
|
|
NM_000153.4(GALC):c.13C>T (p.Leu5=)
|
rs1251422660
|
|
NM_000153.4(GALC):c.1407C>A (p.Leu469=)
|
|
|
NM_000153.4(GALC):c.1437T>G (p.Leu479=)
|
|
|
NM_000153.4(GALC):c.1452G>A (p.Gln484=)
|
|
|
NM_000153.4(GALC):c.1464T>C (p.Ser488=)
|
|
|
NM_000153.4(GALC):c.1489+7A>G
|
|
|
NM_000153.4(GALC):c.1490-11A>G
|
|
|
NM_000153.4(GALC):c.1490-11A>T
|
|
|
NM_000153.4(GALC):c.1490-13dup
|
|
|
NM_000153.4(GALC):c.1490-19T>C
|
|
|
NM_000153.4(GALC):c.1490-4A>G
|
|
|
NM_000153.4(GALC):c.1506T>C (p.Ser502=)
|
rs2139951654
|
|
NM_000153.4(GALC):c.1509A>G (p.Glu503=)
|
rs2139951641
|
|
NM_000153.4(GALC):c.1536T>C (p.Gly512=)
|
|
|
NM_000153.4(GALC):c.1572C>A (p.Gly524=)
|
|
|
NM_000153.4(GALC):c.1587G>T (p.Thr529=)
|
rs184748969
|
|
NM_000153.4(GALC):c.1590A>T (p.Leu530=)
|
rs2139951380
|
|
NM_000153.4(GALC):c.1599T>C (p.Val533=)
|
rs1461334592
|
|
NM_000153.4(GALC):c.1608G>A (p.Gln536=)
|
|
|
NM_000153.4(GALC):c.1614C>T (p.Pro538=)
|
|
|
NM_000153.4(GALC):c.1638C>T (p.Ser546=)
|
|
|
NM_000153.4(GALC):c.1662C>T (p.Asp554=)
|
|
|
NM_000153.4(GALC):c.1670+19A>G
|
|
|
NM_000153.4(GALC):c.1670+7T>C
|
|
|
NM_000153.4(GALC):c.1671-15_1671-14del
|
|
|
NM_000153.4(GALC):c.1671-20T>C
|
|
|
NM_000153.4(GALC):c.1671-4G>T
|
rs2139941832
|
|
NM_000153.4(GALC):c.1674C>G (p.Thr558=)
|
rs2139941792
|
|
NM_000153.4(GALC):c.1677T>C (p.Asn559=)
|
rs1884855641
|
|
NM_000153.4(GALC):c.1698A>G (p.Val566=)
|
rs421466
|
|
NM_000153.4(GALC):c.1713T>C (p.Pro571=)
|
|
|
NM_000153.4(GALC):c.1743A>G (p.Arg581=)
|
|
|
NM_000153.4(GALC):c.1746A>G (p.Val582=)
|
rs1884848090
|
|
NM_000153.4(GALC):c.1749T>C (p.Asn583=)
|
|
|
NM_000153.4(GALC):c.1758T>A (p.Gly586=)
|
rs746189262
|
|
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
|
rs746189262
|
|
NM_000153.4(GALC):c.1764G>A (p.Leu588=)
|
rs2139941407
|
|
NM_000153.4(GALC):c.1803A>T (p.Ala601=)
|
|
|
NM_000153.4(GALC):c.1806T>C (p.Asn602=)
|
rs2139941287
|
|
NM_000153.4(GALC):c.1809A>G (p.Gly603=)
|
rs1884845093
|
|
NM_000153.4(GALC):c.1815C>T (p.Tyr605=)
|
rs2139941240
|
|
NM_000153.4(GALC):c.1830T>C (p.Asp610=)
|
rs2139941185
|
|
NM_000153.4(GALC):c.1834+13_1834+14insA
|
|
|
NM_000153.4(GALC):c.1834+17T>C
|
|
|
NM_000153.4(GALC):c.1834+18T>G
|
|
|
NM_000153.4(GALC):c.1834+7G>T
|
|
|
NM_000153.4(GALC):c.1834+8A>G
|
|
|
NM_000153.4(GALC):c.1834+9C>G
|
|
|
NM_000153.4(GALC):c.1835-14T>C
|
|
|
NM_000153.4(GALC):c.1835-15A>G
|
|
|
NM_000153.4(GALC):c.1835-17A>C
|
|
|
NM_000153.4(GALC):c.1835-18A>T
|
|
|
NM_000153.4(GALC):c.1835-20A>G
|
|
|
NM_000153.4(GALC):c.1835-4A>G
|
|
|
NM_000153.4(GALC):c.1835-9G>C
|
rs1884768613
|
|
NM_000153.4(GALC):c.1839A>T (p.Gly613=)
|
|
|
NM_000153.4(GALC):c.1845T>A (p.Ile615=)
|
rs2139937985
|
|
NM_000153.4(GALC):c.1872T>A (p.Val624=)
|
|
|
NM_000153.4(GALC):c.1875A>G (p.Thr625=)
|
rs752821190
|
|
NM_000153.4(GALC):c.1884A>G (p.Lys628=)
|
rs760065776
|
|
NM_000153.4(GALC):c.1890T>C (p.Tyr630=)
|
rs1057516453
|
|
NM_000153.4(GALC):c.1896C>T (p.Leu632=)
|
|
|
NM_000153.4(GALC):c.1899G>A (p.Thr633=)
|
rs370259898
|
|
NM_000153.4(GALC):c.1899G>T (p.Thr633=)
|
rs370259898
|
|
NM_000153.4(GALC):c.1902A>G (p.Leu634=)
|
|
|
NM_000153.4(GALC):c.1911+10G>A
|
rs2139937598
|
|
NM_000153.4(GALC):c.1911+11C>G
|
|
|
NM_000153.4(GALC):c.1911+14A>G
|
|
|
NM_000153.4(GALC):c.1911+20G>A
|
|
|
NM_000153.4(GALC):c.1911+20G>T
|
|
|
NM_000153.4(GALC):c.1911+9T>G
|
rs2139937603
|
|
NM_000153.4(GALC):c.1912-10_1912-7dup
|
rs2139926060
|
|
NM_000153.4(GALC):c.1912-17_1912-16del
|
rs770352387
|
|
NM_000153.4(GALC):c.1912-19G>A
|
|
|
NM_000153.4(GALC):c.1912-4C>G
|
rs1448244760
|
|
NM_000153.4(GALC):c.1912-6CT[3]
|
|
|
NM_000153.4(GALC):c.1914T>A (p.Gly638=)
|
|
|
NM_000153.4(GALC):c.1920_1921inv (p.Thr641Ala)
|
|
|
NM_000153.4(GALC):c.1944G>A (p.Lys648=)
|
|
|
NM_000153.4(GALC):c.196-10T>G
|
|
|
NM_000153.4(GALC):c.196-12T>C
|
|
|
NM_000153.4(GALC):c.196-12T>G
|
|
|
NM_000153.4(GALC):c.196-16A>G
|
|
|
NM_000153.4(GALC):c.196-17A>G
|
|
|
NM_000153.4(GALC):c.196-19T>C
|
|
|
NM_000153.4(GALC):c.196-20T>C
|
|
|
NM_000153.4(GALC):c.196-7T>A
|
rs1302684850
|
|
NM_000153.4(GALC):c.196-7T>G
|
|
|
NM_000153.4(GALC):c.196-9T>G
|
|
|
NM_000153.4(GALC):c.198A>C (p.Ala66=)
|
rs1375871159
|
|
NM_000153.4(GALC):c.1992T>C (p.Ala664=)
|
rs763585644
|
|
NM_000153.4(GALC):c.2007C>T (p.His669=)
|
rs1884498007
|
|
NM_000153.4(GALC):c.2010C>T (p.Ser670=)
|
rs2139925606
|
|
NM_000153.4(GALC):c.2028T>C (p.Phe676=)
|
|
|
NM_000153.4(GALC):c.2031C>T (p.Asp677=)
|
rs2139925570
|
|
NM_000153.4(GALC):c.2037T>C (p.Phe679=)
|
|
|
NM_000153.4(GALC):c.2040T>C (p.Leu680=)
|
rs1884496164
|
|
NM_000153.4(GALC):c.2049C>A (p.Ala683=)
|
|
|
NM_000153.4(GALC):c.204C>T (p.Ser68=)
|
rs2139759503
|
|
NM_000153.4(GALC):c.2055C>T (p.Arg685=)
|
rs982394931
|
|
NM_000153.4(GALC):c.2057A>G (p.Ter686=)
|
|
|
NM_000153.4(GALC):c.2058A>G (p.Ter686=)
|
|
|
NM_000153.4(GALC):c.213A>G (p.Leu71=)
|
|
|
NM_000153.4(GALC):c.216A>G (p.Val72=)
|
rs2139759473
|
|
NM_000153.4(GALC):c.21G>T (p.Ser7=)
|
|
|
NM_000153.4(GALC):c.222C>T (p.Tyr74=)
|
rs959445153
|
|
NM_000153.4(GALC):c.228G>A (p.Glu76=)
|
|
|
NM_000153.4(GALC):c.234T>C (p.Tyr78=)
|
rs2139759411
|
|
NM_000153.4(GALC):c.24T>A (p.Ala8=)
|
|
|
NM_000153.4(GALC):c.258C>A (p.Leu86=)
|
rs375382346
|
|
NM_000153.4(GALC):c.258C>T (p.Leu86=)
|
rs375382346
|
|
NM_000153.4(GALC):c.264+14A>G
|
|
|
NM_000153.4(GALC):c.264+7A>G
|
|
|
NM_000153.4(GALC):c.264+7A>T
|
|
|
NM_000153.4(GALC):c.265-10C>T
|
|
|
NM_000153.4(GALC):c.265-14A>G
|
|
|
NM_000153.4(GALC):c.265-19C>A
|
|
|
NM_000153.4(GALC):c.265-20A>G
|
|
|
NM_000153.4(GALC):c.265-4A>G
|
|
|
NM_000153.4(GALC):c.267G>A (p.Pro89=)
|
rs1258153050
|
|
NM_000153.4(GALC):c.303A>G (p.Glu101=)
|
|
|
NM_000153.4(GALC):c.321G>A (p.Gln107=)
|
rs2139758670
|
|
NM_000153.4(GALC):c.328+12T>C
|
|
|
NM_000153.4(GALC):c.328+19T>C
|
|
|
NM_000153.4(GALC):c.328+19T>G
|
|
|
NM_000153.4(GALC):c.329-10C>T
|
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.329-11C>T
|
|
|
NM_000153.4(GALC):c.329-12T>A
|
|
|
NM_000153.4(GALC):c.329-12_329-3del
|
|
|
NM_000153.4(GALC):c.329-4T>G
|
rs1220993077
|
|
NM_000153.4(GALC):c.329-6A>C
|
|
|
NM_000153.4(GALC):c.329-6_329-5del
|
|
|
NM_000153.4(GALC):c.329-8C>G
|
rs745493654
|
|
NM_000153.4(GALC):c.339G>A (p.Glu113=)
|
|
|
NM_000153.4(GALC):c.357T>C (p.Tyr119=)
|
rs1567012468
|
|
NM_000153.4(GALC):c.360A>C (p.Ala120=)
|
|
|
NM_000153.4(GALC):c.360A>G (p.Ala120=)
|
rs1172612470
|
|
NM_000153.4(GALC):c.361C>T (p.Leu121=)
|
|
|
NM_000153.4(GALC):c.366T>C (p.Asp122=)
|
rs751595447
|
|
NM_000153.4(GALC):c.379C>A (p.Arg127=)
|
rs200532368
|
|
NM_000153.4(GALC):c.408A>G (p.Glu136=)
|
|
|
NM_000153.4(GALC):c.411T>A (p.Ala137=)
|
|
|
NM_000153.4(GALC):c.414G>A (p.Lys138=)
|
rs977080847
|
|
NM_000153.4(GALC):c.417G>A (p.Lys139=)
|
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4(GALC):c.426C>A (p.Pro142=)
|
rs754765375
|
|
NM_000153.4(GALC):c.42G>A (p.Ala14=)
|
|
|
NM_000153.4(GALC):c.435A>G (p.Thr145=)
|
rs2139754577
|
|
NM_000153.4(GALC):c.438C>A (p.Leu146=)
|
|
|
NM_000153.4(GALC):c.438C>T (p.Leu146=)
|
rs751654966
|
|
NM_000153.4(GALC):c.442+12A>G
|
|
|
NM_000153.4(GALC):c.442+16T>G
|
rs2139754464
|
|
NM_000153.4(GALC):c.442+17G>A
|
|
|
NM_000153.4(GALC):c.442+17G>T
|
|
|
NM_000153.4(GALC):c.442+19_442+20insAAGAAATGAAGTTTGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_000153.4(GALC):c.442+20A>G
|
|
|
NM_000153.4(GALC):c.442+7A>G
|
|
|
NM_000153.4(GALC):c.442+8A>T
|
|
|
NM_000153.4(GALC):c.443-13C>A
|
|
|
NM_000153.4(GALC):c.443-13C>G
|
|
|
NM_000153.4(GALC):c.443-15C>T
|
|
|
NM_000153.4(GALC):c.443-6C>G
|
rs1886890773
|
|
NM_000153.4(GALC):c.443-8C>G
|
rs1886890897
|
|
NM_000153.4(GALC):c.447G>A (p.Leu149=)
|
|
|
NM_000153.4(GALC):c.456A>C (p.Ser152=)
|
|
|
NM_000153.4(GALC):c.456A>G (p.Ser152=)
|
rs537270750
|
|
NM_000153.4(GALC):c.45A>G (p.Lys15=)
|
rs2139769850
|
|
NM_000153.4(GALC):c.474A>G (p.Gly158=)
|
|
|
NM_000153.4(GALC):c.477A>G (p.Lys159=)
|
|
|
NM_000153.4(GALC):c.495T>C (p.Tyr165=)
|
rs1171860585
|
|
NM_000153.4(GALC):c.501T>C (p.Asn167=)
|
|
|
NM_000153.4(GALC):c.508C>T (p.Leu170=)
|
|
|
NM_000153.4(GALC):c.516C>A (p.Ala172=)
|
rs1248283732
|
|
NM_000153.4(GALC):c.516C>T (p.Ala172=)
|
rs1248283732
|
|
NM_000153.4(GALC):c.522T>C (p.Tyr174=)
|
|
|
NM_000153.4(GALC):c.528G>A (p.Val176=)
|
rs2139749565
|
|
NM_000153.4(GALC):c.531C>A (p.Thr177=)
|
|
|
NM_000153.4(GALC):c.531C>G (p.Thr177=)
|
|
|
NM_000153.4(GALC):c.546C>T (p.Ala182=)
|
rs1204124331
|
|
NM_000153.4(GALC):c.54T>G (p.Thr18=)
|
|
|
NM_000153.4(GALC):c.552T>A (p.Arg184=)
|
rs1886881987
|
|
NM_000153.4(GALC):c.561T>C (p.Asp187=)
|
|
|
NM_000153.4(GALC):c.57G>C (p.Ala19=)
|
rs1015595560
|
|
NM_000153.4(GALC):c.582+10A>G
|
rs751190201
|
|
NM_000153.4(GALC):c.582+11T>C
|
|
|
NM_000153.4(GALC):c.582+13T>C
|
|
|
NM_000153.4(GALC):c.582+18A>T
|
|
|
NM_000153.4(GALC):c.582+7A>G
|
rs2139749320
|
|
NM_000153.4(GALC):c.583-10T>G
|
rs2139743870
|
|
NM_000153.4(GALC):c.583-11_583-10del
|
|
|
NM_000153.4(GALC):c.583-12T>C
|
|
|
NM_000153.4(GALC):c.583-13T>G
|
|
|
NM_000153.4(GALC):c.583-14T>A
|
|
|
NM_000153.4(GALC):c.583-20T>G
|
|
|
NM_000153.4(GALC):c.583-4G>C
|
|
|
NM_000153.4(GALC):c.583-8T>C
|
rs1037117075
|
|
NM_000153.4(GALC):c.583-9del
|
|
|
NM_000153.4(GALC):c.591T>C (p.Asn197=)
|
|
|
NM_000153.4(GALC):c.603T>C (p.Tyr201=)
|
rs879731155
|
|
NM_000153.4(GALC):c.609C>G (p.Ala203=)
|
rs2139743751
|
|
NM_000153.4(GALC):c.621+10A>G
|
|
|
NM_000153.4(GALC):c.621+14T>C
|
|
|
NM_000153.4(GALC):c.621+15A>G
|
|
|
NM_000153.4(GALC):c.621+15_621+23del
|
|
|
NM_000153.4(GALC):c.621+16G>A
|
|
|
NM_000153.4(GALC):c.621+18A>G
|
|
|
NM_000153.4(GALC):c.621+20C>G
|
|
|
NM_000153.4(GALC):c.621+20C>T
|
|
|
NM_000153.4(GALC):c.621+8C>G
|
rs2139743655
|
|
NM_000153.4(GALC):c.621+9A>C
|
|
|
NM_000153.4(GALC):c.622-10A>C
|
rs2140016510
|
|
NM_000153.4(GALC):c.622-11T>C
|
|
|
NM_000153.4(GALC):c.622-19C>G
|
|
|
NM_000153.4(GALC):c.622-7C>A
|
|
|
NM_000153.4(GALC):c.622-8T>C
|
|
|
NM_000153.4(GALC):c.625T>C (p.Leu209=)
|
|
|
NM_000153.4(GALC):c.627A>G (p.Leu209=)
|
rs1319559158
|
|
NM_000153.4(GALC):c.630A>G (p.Arg210=)
|
|
|
NM_000153.4(GALC):c.639G>A (p.Leu213=)
|
|
|
NM_000153.4(GALC):c.63G>T (p.Ala21=)
|
rs756641128
|
|
NM_000153.4(GALC):c.654C>T (p.Leu218=)
|
rs2140016397
|
|
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
|
rs372285275
|
|
NM_000153.4(GALC):c.675A>G (p.Ala225=)
|
rs1172670344
|
|
NM_000153.4(GALC):c.678T>C (p.Ser226=)
|
rs1595226323
|
|
NM_000153.4(GALC):c.696C>T (p.Ser232=)
|
|
|
NM_000153.4(GALC):c.69G>A (p.Ser23=)
|
|
|
NM_000153.4(GALC):c.69G>C (p.Ser23=)
|
rs763851570
|
|
NM_000153.4(GALC):c.69G>T (p.Ser23=)
|
rs763851570
|
|
NM_000153.4(GALC):c.705A>T (p.Ala235=)
|
rs771534115
|
|
NM_000153.4(GALC):c.714C>G (p.Leu238=)
|
|
|
NM_000153.4(GALC):c.72G>C (p.Ala24=)
|
rs1184434539
|
|
NM_000153.4(GALC):c.744T>C (p.Asp248=)
|
|
|
NM_000153.4(GALC):c.752+10G>A
|
rs2140016029
|
|
NM_000153.4(GALC):c.752+8A>G
|
rs750292340
|
|
NM_000153.4(GALC):c.753-12T>G
|
|
|
NM_000153.4(GALC):c.753-13T>C
|
|
|
NM_000153.4(GALC):c.753-13T>G
|
|
|
NM_000153.4(GALC):c.753-14C>T
|
|
|
NM_000153.4(GALC):c.753-17A>C
|
|
|
NM_000153.4(GALC):c.753-4dup
|
|
|
NM_000153.4(GALC):c.753-5T>G
|
|
|
NM_000153.4(GALC):c.753-5del
|
rs533067313
|
|
NM_000153.4(GALC):c.753-6T>C
|
|
|
NM_000153.4(GALC):c.753-7T>A
|
|
|
NM_000153.4(GALC):c.753-7T>G
|
rs2140001828
|
|
NM_000153.4(GALC):c.753-9T>C
|
rs2140001838
|
|
NM_000153.4(GALC):c.75C>T (p.Gly25=)
|
rs111976362
|
|
NM_000153.4(GALC):c.786T>C (p.Asp262=)
|
|
|
NM_000153.4(GALC):c.789A>C (p.Ala263=)
|
|
|
NM_000153.4(GALC):c.789A>G (p.Ala263=)
|
rs1886147283
|
|
NM_000153.4(GALC):c.792G>A (p.Lys264=)
|
|
|
NM_000153.4(GALC):c.801G>A (p.Gly267=)
|
|
|
NM_000153.4(GALC):c.801G>C (p.Gly267=)
|
|
|
NM_000153.4(GALC):c.81C>G (p.Ala27=)
|
rs759433028
|
|
NM_000153.4(GALC):c.840T>C (p.Asn280=)
|
|
|
NM_000153.4(GALC):c.846C>T (p.Asp282=)
|
|
|
NM_000153.4(GALC):c.855A>G (p.Ala285=)
|
|
|
NM_000153.4(GALC):c.870C>A (p.Arg290=)
|
|
|
NM_000153.4(GALC):c.870C>T (p.Arg290=)
|
|
|
NM_000153.4(GALC):c.87G>T (p.Val29=)
|
|
|
NM_000153.4(GALC):c.894T>C (p.Asn298=)
|
|
|
NM_000153.4(GALC):c.900T>C (p.Tyr300=)
|
rs2140001415
|
|
NM_000153.4(GALC):c.908+10T>G
|
|
|
NM_000153.4(GALC):c.908+11A>G
|
|
|
NM_000153.4(GALC):c.908+11A>T
|
|
|
NM_000153.4(GALC):c.908+12A>G
|
|
|
NM_000153.4(GALC):c.908+17C>G
|
|
|
NM_000153.4(GALC):c.908+17C>T
|
|
|
NM_000153.4(GALC):c.908+20T>C
|
|
|
NM_000153.4(GALC):c.909-10A>T
|
rs398123178
|
|
NM_000153.4(GALC):c.909-12C>G
|
|
|
NM_000153.4(GALC):c.909-19T>C
|
|
|
NM_000153.4(GALC):c.909-20T>A
|
|
|
NM_000153.4(GALC):c.909-6T>C
|
|
|
NM_000153.4(GALC):c.909-7C>A
|
|
|
NM_000153.4(GALC):c.909-9A>C
|
rs2139996587
|
|
NM_000153.4(GALC):c.90C>G (p.Pro30=)
|
rs2139769557
|
|
NM_000153.4(GALC):c.90C>T (p.Pro30=)
|
|
|
NM_000153.4(GALC):c.918A>G (p.Ala306=)
|
|
|
NM_000153.4(GALC):c.918A>T (p.Ala306=)
|
rs2139996507
|
|
NM_000153.4(GALC):c.933T>C (p.Ala311=)
|
rs1291467359
|
|
NM_000153.4(GALC):c.942T>C (p.Tyr314=)
|
|
|
NM_000153.4(GALC):c.945A>G (p.Glu315=)
|
rs2139996403
|
|
NM_000153.4(GALC):c.94C>T (p.Leu32=)
|
rs770807058
|
|
NM_000153.4(GALC):c.951G>A (p.Leu317=)
|
rs2139996371
|
|
NM_000153.4(GALC):c.966C>T (p.Cys322=)
|
|
|
NM_000153.4(GALC):c.969G>T (p.Gly323=)
|
|
|
NM_000153.4(GALC):c.978G>C (p.Thr326=)
|
|
|
NM_000153.4(GALC):c.97C>T (p.Leu33=)
|
rs2139769518
|
|
NM_000153.4(GALC):c.987G>A (p.Glu329=)
|
rs2139996201
|
|
NM_000153.4(GALC):c.99G>C (p.Leu33=)
|
rs1595246257
|
|