ClinVar Miner

List of variants in gene GALC reported as likely benign for Galactosylceramide beta-galactosidase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 492
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HGVS dbSNP gnomAD frequency
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

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