ClinVar Miner

List of variants in gene GALC reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 346
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HGVS dbSNP
NC_000014.8:g.(?_88391503_88423172del
NC_000014.8:g.(?_88391504_88423173del
NC_000014.8:g.(?_88391504_88423174del
NC_000014.8:g.(?_88416169)_(88459863_?)dup
NC_000014.8:g.(?_88431972_88439445del
NC_000014.9:g.(?_87934712)_(87949951_?)del
NC_000014.9:g.(?_87934712)_(87950768_?)del
NC_000014.9:g.(?_87934720)_(87950758_?)del
NC_000014.9:g.(?_87949835)_(87949941_?)del
NC_000014.9:g.(?_87963364)_(87993519_?)dup
NC_000014.9:g.(?_87963374)_(87963521_?)del
NC_000014.9:g.(?_87963374)_(87963521_?)dup
NC_000014.9:g.(?_87965495)_(87968500_?)dup
NC_000014.9:g.(?_87968315)_(87968510_?)del
NC_000014.9:g.(?_87992960)_(87993627_?)del
NM_000153.4(GALC):c.-318T>C rs556647825
NM_000153.4(GALC):c.-67T>G rs571945132
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys) rs757407613
NM_000153.4(GALC):c.1005C>T (p.Tyr335=)
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.4(GALC):c.1012del (p.Glu338fs) rs1057516469
NM_000153.4(GALC):c.1021del (p.Val341fs) rs1057517382
NM_000153.4(GALC):c.1029A>G (p.Val343=)
NM_000153.4(GALC):c.1033+1G>A
NM_000153.4(GALC):c.1034-4A>G
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)
NM_000153.4(GALC):c.1047G>A (p.Gln349=) rs1475461759
NM_000153.4(GALC):c.1059T>C (p.Pro353=)
NM_000153.4(GALC):c.1068T>C (p.Tyr356=)
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.4(GALC):c.1083dup (p.Gly362fs)
NM_000153.4(GALC):c.1086C>G (p.Gly362=)
NM_000153.4(GALC):c.108G>T (p.Leu36=)
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1131A>G (p.Leu377=)
NM_000153.4(GALC):c.114G>T (p.Ala38=) rs749514611
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1161+1del rs1555381417
NM_000153.4(GALC):c.1162-10T>G
NM_000153.4(GALC):c.1162-14dup rs11300320
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1162-5T>C
NM_000153.4(GALC):c.1162-5_1162-4del rs11300320
NM_000153.4(GALC):c.1170A>G (p.Lys390=)
NM_000153.4(GALC):c.117C>G (p.Pro39=)
NM_000153.4(GALC):c.117C>T (p.Pro39=)
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr)
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731
NM_000153.4(GALC):c.1188G>T (p.Arg396=)
NM_000153.4(GALC):c.1191A>G (p.Pro397=) rs376181222
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1227C>T (p.Ala409=)
NM_000153.4(GALC):c.1236T>A (p.Val412=) rs112531377
NM_000153.4(GALC):c.1251+18A>G
NM_000153.4(GALC):c.1251+7A>C
NM_000153.4(GALC):c.1252-10T>G rs1595198237
NM_000153.4(GALC):c.1252-2A>G
NM_000153.4(GALC):c.1252-4A>G
NM_000153.4(GALC):c.1252-5T>C
NM_000153.4(GALC):c.1252-7T>C
NM_000153.4(GALC):c.1252-8C>A rs1327279405
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter) rs1057516816
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.4(GALC):c.1305A>G (p.Glu435=)
NM_000153.4(GALC):c.1332T>C (p.Ser444=) rs1595198074
NM_000153.4(GALC):c.1335A>G (p.Leu445=)
NM_000153.4(GALC):c.1335_1336del (p.Trp446fs)
NM_000153.4(GALC):c.1339-10T>C
NM_000153.4(GALC):c.1339-8dup
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) rs751975987
NM_000153.4(GALC):c.1398C>T (p.Leu466=)
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1411_1432del (p.Thr471fs)
NM_000153.4(GALC):c.1419C>T (p.Arg473=)
NM_000153.4(GALC):c.141C>T (p.Asp47=)
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860
NM_000153.4(GALC):c.1441C>T (p.Pro481Ser)
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
NM_000153.4(GALC):c.144C>T (p.Ser48=) rs764548631
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser) rs771051919
NM_000153.4(GALC):c.1467C>T (p.Thr489=)
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.1489+3G>A rs186664912
NM_000153.4(GALC):c.1489+9T>C
NM_000153.4(GALC):c.1490-6G>A
NM_000153.4(GALC):c.1506T>C (p.Ser502=)
NM_000153.4(GALC):c.151C>T (p.Leu51=)
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.1551T>C (p.Phe517=)
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491
NM_000153.4(GALC):c.1575G>A (p.Glu525=) rs755353417
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969
NM_000153.4(GALC):c.1590A>T (p.Leu530=)
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys) rs749893889
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.1599T>C (p.Val533=)
NM_000153.4(GALC):c.15A>G (p.Leu5=) rs529350155
NM_000153.4(GALC):c.1620= (p.Thr540=) rs367327
NM_000153.4(GALC):c.1620A>G (p.Thr540=) rs367327
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754
NM_000153.4(GALC):c.1670+10A>G
NM_000153.4(GALC):c.1671-15C>T rs12432149
NM_000153.4(GALC):c.1671-4G>T
NM_000153.4(GALC):c.1674C>G (p.Thr558=)
NM_000153.4(GALC):c.1677T>C (p.Asn559=)
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.168C>T (p.Asp56=)
NM_000153.4(GALC):c.1695T>C (p.Asp565=)
NM_000153.4(GALC):c.1698A>G (p.Val566=)
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1710C>T (p.Thr570=)
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.4(GALC):c.1746A>G (p.Val582=)
NM_000153.4(GALC):c.174C>T (p.Ile58=)
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
NM_000153.4(GALC):c.1762_1763del (p.Leu588fs)
NM_000153.4(GALC):c.176del (p.Gly59fs)
NM_000153.4(GALC):c.1788C>T (p.Phe596=) rs115018138
NM_000153.4(GALC):c.1791C>T (p.Phe597=)
NM_000153.4(GALC):c.1793G>A (p.Trp598Ter)
NM_000153.4(GALC):c.1803A>G (p.Ala601=)
NM_000153.4(GALC):c.1806T>C (p.Asn602=)
NM_000153.4(GALC):c.180G>T (p.Ala60=)
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter) rs766007316
NM_000153.4(GALC):c.1815C>T (p.Tyr605=)
NM_000153.4(GALC):c.181_182insAG (p.Val61fs)
NM_000153.4(GALC):c.1824A>G (p.Thr608=)
NM_000153.4(GALC):c.1834+5C>G rs448805
NM_000153.4(GALC):c.1845T>A (p.Ile615=)
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer) rs1057516433
NM_000153.4(GALC):c.1862G>A (p.Arg621His) rs192911803
NM_000153.4(GALC):c.1884A>G (p.Lys628=)
NM_000153.4(GALC):c.1884del (p.Lys628fs)
NM_000153.4(GALC):c.1887del (p.Trp629fs)
NM_000153.4(GALC):c.1890T>C (p.Tyr630=)
NM_000153.4(GALC):c.1893A>G (p.Thr631=)
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
NM_000153.4(GALC):c.1899G>A (p.Thr633=) rs370259898
NM_000153.4(GALC):c.1899G>T (p.Thr633=)
NM_000153.4(GALC):c.189C>T (p.Gly63=) rs1595245955
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.1911+10G>A
NM_000153.4(GALC):c.1911+7A>G
NM_000153.4(GALC):c.1911+9T>G
NM_000153.4(GALC):c.1912-10_1912-7dup
NM_000153.4(GALC):c.1912-7A>G
NM_000153.4(GALC):c.1920_1921inv (p.Thr641Ala)
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262
NM_000153.4(GALC):c.192C>T (p.Gly64=)
NM_000153.4(GALC):c.1947T>C (p.Ser649=)
NM_000153.4(GALC):c.195+10A>G rs191767015
NM_000153.4(GALC):c.195+12G>A
NM_000153.4(GALC):c.195+16C>T
NM_000153.4(GALC):c.195+19G>A rs189853941
NM_000153.4(GALC):c.195+1G>A rs1009872980
NM_000153.4(GALC):c.195+7G>A
NM_000153.4(GALC):c.195+8G>A
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.196-7T>A
NM_000153.4(GALC):c.196-7T>C
NM_000153.4(GALC):c.196-9T>C
NM_000153.4(GALC):c.1987del (p.Trp663fs)
NM_000153.4(GALC):c.1992T>C (p.Ala664=) rs763585644
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro)
NM_000153.4(GALC):c.200C>T (p.Thr67Ile)
NM_000153.4(GALC):c.201C>G (p.Thr67=)
NM_000153.4(GALC):c.2022A>G (p.Ala674=)
NM_000153.4(GALC):c.2034C>T (p.Asn678=) rs183869279
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs)
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs)
NM_000153.4(GALC):c.2040T>C (p.Leu680=)
NM_000153.4(GALC):c.204C>T (p.Ser68=)
NM_000153.4(GALC):c.2055C>T (p.Arg685=)
NM_000153.4(GALC):c.2056T>C (p.Ter686Gln)
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347
NM_000153.4(GALC):c.210dup (p.Leu71fs)
NM_000153.4(GALC):c.216A>G (p.Val72=)
NM_000153.4(GALC):c.222C>T (p.Tyr74=)
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829
NM_000153.4(GALC):c.23C>T (p.Ala8Val) rs376511103
NM_000153.4(GALC):c.247T>C (p.Leu83=) rs753469861
NM_000153.4(GALC):c.258C>A (p.Leu86=)
NM_000153.4(GALC):c.264+10A>G
NM_000153.4(GALC):c.264+1G>A
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.27C>T (p.Ser9=) rs1397626290
NM_000153.4(GALC):c.302_308dup (p.Gly104fs)
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867
NM_000153.4(GALC):c.321G>A (p.Gln107=)
NM_000153.4(GALC):c.328+19T>A rs74337989
NM_000153.4(GALC):c.328+1G>T rs779701490
NM_000153.4(GALC):c.328+6A>G rs201977747
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.329-4T>G
NM_000153.4(GALC):c.329-6A>G
NM_000153.4(GALC):c.329-8C>G
NM_000153.4(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.4(GALC):c.331G>A (p.Gly111Ser) rs756690487
NM_000153.4(GALC):c.332del (p.Gly111fs)
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.348C>T (p.His116=)
NM_000153.4(GALC):c.349A>C (p.Met117Leu)
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.4(GALC):c.357T>C (p.Tyr119=) rs1567012468
NM_000153.4(GALC):c.360A>G (p.Ala120=)
NM_000153.4(GALC):c.379C>A (p.Arg127=) rs200532368
NM_000153.4(GALC):c.379C>T (p.Arg127Ter) rs200532368
NM_000153.4(GALC):c.37C>G (p.Arg13Gly)
NM_000153.4(GALC):c.37C>T (p.Arg13Ter)
NM_000153.4(GALC):c.383G>C (p.Gly128Ala) rs367604629
NM_000153.4(GALC):c.387C>T (p.Tyr129=) rs1240965365
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.4(GALC):c.398TGA[1] (p.Met134del)
NM_000153.4(GALC):c.414G>A (p.Lys138=)
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.426C>T (p.Pro142=)
NM_000153.4(GALC):c.42G>C (p.Ala14=) rs112992946
NM_000153.4(GALC):c.430del (p.Ile144fs) rs775277935
NM_000153.4(GALC):c.432_433dup (p.Thr145fs)
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.435A>G (p.Thr145=)
NM_000153.4(GALC):c.443-1G>C
NM_000153.4(GALC):c.443-2A>G rs1595236714
NM_000153.4(GALC):c.450A>G (p.Pro150=)
NM_000153.4(GALC):c.453G>A (p.Trp151Ter) rs745620101
NM_000153.4(GALC):c.459C>T (p.Phe153=) rs774472326
NM_000153.4(GALC):c.45A>G (p.Lys15=)
NM_000153.4(GALC):c.462T>C (p.Pro154=) rs748295031
NM_000153.4(GALC):c.465A>G (p.Gly155=)
NM_000153.4(GALC):c.483C>T (p.Phe161=)
NM_000153.4(GALC):c.489G>A (p.Trp163Ter) rs761550284
NM_000153.4(GALC):c.48T>C (p.Ala16=)
NM_000153.4(GALC):c.498del (p.Asn167fs)
NM_000153.4(GALC):c.516C>A (p.Ala172=)
NM_000153.4(GALC):c.516C>T (p.Ala172=)
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089
NM_000153.4(GALC):c.528G>A (p.Val176=)
NM_000153.4(GALC):c.530C>A (p.Thr177Asn) rs115869593
NM_000153.4(GALC):c.537T>C (p.Ile179=) rs776341276
NM_000153.4(GALC):c.543C>T (p.Gly181=) rs772338291
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.57G>C (p.Ala19=)
NM_000153.4(GALC):c.57G>T (p.Ala19=)
NM_000153.4(GALC):c.581G>C (p.Gly194Ala)
NM_000153.4(GALC):c.582+10A>G
NM_000153.4(GALC):c.582+1G>A
NM_000153.4(GALC):c.582+7A>G
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.583-4G>T
NM_000153.4(GALC):c.583-6T>A rs398123176
NM_000153.4(GALC):c.583-8T>C rs1037117075
NM_000153.4(GALC):c.599C>A (p.Ser200Ter) rs786204618
NM_000153.4(GALC):c.600A>G (p.Ser200=)
NM_000153.4(GALC):c.609C>G (p.Ala203=)
NM_000153.4(GALC):c.60C>T (p.Ala20=) rs188488238
NM_000153.4(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.4(GALC):c.621+8C>G
NM_000153.4(GALC):c.622-10A>C
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.639G>C (p.Leu213=)
NM_000153.4(GALC):c.645T>C (p.Tyr215=)
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)
NM_000153.4(GALC):c.674dup (p.Ser226fs)
NM_000153.4(GALC):c.675A>G (p.Ala225=)
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000153.4(GALC):c.686_694del (p.Leu229_Ser232delinsPro)
NM_000153.4(GALC):c.69G>C (p.Ser23=)
NM_000153.4(GALC):c.69G>T (p.Ser23=) rs763851570
NM_000153.4(GALC):c.705A>G (p.Ala235=)
NM_000153.4(GALC):c.708C>T (p.Ser236=)
NM_000153.4(GALC):c.714C>T (p.Leu238=) rs748497197
NM_000153.4(GALC):c.723C>T (p.Ala241=)
NM_000153.4(GALC):c.72G>C (p.Ala24=)
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.750A>G (p.Ile250Met)
NM_000153.4(GALC):c.752+10G>A
NM_000153.4(GALC):c.752+1G>A
NM_000153.4(GALC):c.752+3A>G rs1567000413
NM_000153.4(GALC):c.753-13_753-12dup
NM_000153.4(GALC):c.753-5T>C rs745331282
NM_000153.4(GALC):c.753-5del rs533067313
NM_000153.4(GALC):c.753-7T>G
NM_000153.4(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000153.4(GALC):c.75C>T (p.Gly25=)
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) rs1308816724
NM_000153.4(GALC):c.798T>C (p.Thr266=)
NM_000153.4(GALC):c.804G>A (p.Lys268=) rs754144462
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028
NM_000153.4(GALC):c.821A>C (p.Glu274Ala)
NM_000153.4(GALC):c.828T>C (p.Phe276=)
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.860G>A (p.Cys287Tyr)
NM_000153.4(GALC):c.863G>A (p.Trp288Ter)
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448
NM_000153.4(GALC):c.908+1G>A rs750524447
NM_000153.4(GALC):c.908C>T (p.Ser303Phe) rs756352952
NM_000153.4(GALC):c.909-10A>G rs398123178
NM_000153.4(GALC):c.909-10A>T
NM_000153.4(GALC):c.909-4T>G rs201884281
NM_000153.4(GALC):c.909-9A>C
NM_000153.4(GALC):c.90C>G (p.Pro30=)
NM_000153.4(GALC):c.913A>G (p.Ile305Val) rs74887188
NM_000153.4(GALC):c.915C>T (p.Ile305=)
NM_000153.4(GALC):c.918A>T (p.Ala306=)
NM_000153.4(GALC):c.933T>C (p.Ala311=)
NM_000153.4(GALC):c.945A>G (p.Glu315=)
NM_000153.4(GALC):c.946C>T (p.Gln316Ter) rs776368825
NM_000153.4(GALC):c.949T>A (p.Leu317Met)
NM_000153.4(GALC):c.94C>A (p.Leu32Met) rs770807058
NM_000153.4(GALC):c.94C>T (p.Leu32=)
NM_000153.4(GALC):c.952C>G (p.Pro318Ala) rs1057516642
NM_000153.4(GALC):c.953C>G (p.Pro318Arg) rs387906954
NM_000153.4(GALC):c.955del (p.Tyr319fs) rs786204454
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000153.4(GALC):c.957T>C (p.Tyr319=)
NM_000153.4(GALC):c.96G>T (p.Leu32=) rs113719127
NM_000153.4(GALC):c.970T>C (p.Leu324=)
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer) rs1057516808
NM_000153.4(GALC):c.978G>A (p.Thr326=) rs1214736198
NM_000153.4(GALC):c.982C>T (p.Gln328Ter)
NM_000153.4(GALC):c.984G>A (p.Gln328=) rs12888666
NM_000153.4(GALC):c.990A>G (p.Pro330=)
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137
NM_000153.4(GALC):c.99G>C (p.Leu33=) rs1595246257
NM_001201402.2(GALC):c.-128C>T

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