ClinVar Miner

List of variants in gene GALC

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 632
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HGVS dbSNP
GALC, 1-BP DEL, 1901T
GALC, 30-KB DEL, IVS10
GALC, GLY553ARG
GALC, IVS13DS, G-A, +1
GRCh37/hg19 14q31.3(chr14:88382306-88419358)x1
GRCh37/hg19 14q31.3(chr14:88391502-88423172)
GRCh37/hg19 14q31.3(chr14:88398357-88422853)x1
GRCh37/hg19 14q31.3(chr14:88398406-88422853)x1
GRCh37/hg19 14q31.3(chr14:88398407-88422569)x1
GRCh37/hg19 14q31.3(chr14:88399247-88419358)x1
GRCh37/hg19 14q31.3(chr14:88399247-88420282)x1
GRCh37/hg19 14q31.3(chr14:88399488-88422442)x1
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
GRCh37/hg19 14q31.3(chr14:88399828-88422607)
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
GRCh37/hg19 14q31.3(chr14:88400285-88422569)x1
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_000014.8:g.88391483C>T rs1555377065
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_000153.3(GALC):c.1834+22dup rs34752717
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs) rs886043419
NM_000153.4(GALC):c.*1126G>A rs1042035
NM_000153.4(GALC):c.*1186_*1188del rs141199615
NM_000153.4(GALC):c.*1275G>A rs1042042
NM_000153.4(GALC):c.*12G>A rs372641636
NM_000153.4(GALC):c.*1451C>A rs138919458
NM_000153.4(GALC):c.*1453A>G rs405567
NM_000153.4(GALC):c.*1458T>C rs757918900
NM_000153.4(GALC):c.*14A>G rs143444570
NM_000153.4(GALC):c.*1584G>A
NM_000153.4(GALC):c.*1588T>G rs17198
NM_000153.4(GALC):c.*1598G>A
NM_000153.4(GALC):c.*1625A>G
NM_000153.4(GALC):c.*363A>G
NM_000153.4(GALC):c.*366A>G
NM_000153.4(GALC):c.*375A>G
NM_000153.4(GALC):c.*389G>T
NM_000153.4(GALC):c.*395C>T rs3850376
NM_000153.4(GALC):c.*405A>G
NM_000153.4(GALC):c.*455A>G
NM_000153.4(GALC):c.*486C>G
NM_000153.4(GALC):c.*499T>C
NM_000153.4(GALC):c.*590T>C rs1042029
NM_000153.4(GALC):c.*591G>A rs886050863
NM_000153.4(GALC):c.*626C>T rs432946
NM_000153.4(GALC):c.*627A>G rs413750
NM_000153.4(GALC):c.*709A>C rs45572135
NM_000153.4(GALC):c.*723G>A rs412915
NM_000153.4(GALC):c.*801A>T rs114174103
NM_000153.4(GALC):c.*877T>A
NM_000153.4(GALC):c.*989G>A rs370559
NM_000153.4(GALC):c.*994C>A
NM_000153.4(GALC):c.*999T>C
NM_000153.4(GALC):c.-17G>A rs886050868
NM_000153.4(GALC):c.-318T>C rs556647825
NM_000153.4(GALC):c.-63C>G
NM_000153.4(GALC):c.-66G>T
NM_000153.4(GALC):c.-67T>G rs571945132
NM_000153.4(GALC):c.-68C>T rs369469562
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
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.1031C>G (p.Ser344Ter) rs1555381559
NM_000153.4(GALC):c.1033+145A>G rs17760463
NM_000153.4(GALC):c.1033+1G>A
NM_000153.4(GALC):c.1034-125G>C rs17760374
NM_000153.4(GALC):c.1034-270A>G rs78508589
NM_000153.4(GALC):c.1034-314A>G rs17687144
NM_000153.4(GALC):c.1034-4A>G
NM_000153.4(GALC):c.1042A>G (p.Thr348Ala)
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.1065G>A (p.Trp355Ter) rs1057516270
NM_000153.4(GALC):c.1068T>C (p.Tyr356=)
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs) rs1555381439
NM_000153.4(GALC):c.1083dup (p.Gly362fs)
NM_000153.4(GALC):c.1086C>G (p.Gly362=)
NM_000153.4(GALC):c.108G>A (p.Leu36=)
NM_000153.4(GALC):c.108G>T (p.Leu36=)
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)
NM_000153.4(GALC):c.110_123dup (p.Ala42fs) rs1555384342
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr)
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
NM_000153.4(GALC):c.1131A>G (p.Leu377=)
NM_000153.4(GALC):c.114G>T (p.Ala38=) rs749514611
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter) rs121908010
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1161+1del rs1555381417
NM_000153.4(GALC):c.1161+248del rs143103231
NM_000153.4(GALC):c.1161+2T>G rs398123175
NM_000153.4(GALC):c.1161+301C>T rs3906822
NM_000153.4(GALC):c.1161+38T>C rs17687109
NM_000153.4(GALC):c.1161+9T>C
NM_000153.4(GALC):c.1162-10T>G
NM_000153.4(GALC):c.1162-14dup rs11300320
NM_000153.4(GALC):c.1162-152G>A rs443019
NM_000153.4(GALC):c.1162-197T>C rs428542
NM_000153.4(GALC):c.1162-4T>A rs774455523
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.1162-5_1162-4delinsC rs1555379806
NM_000153.4(GALC):c.1162-6_1162-5delinsA rs1555379811
NM_000153.4(GALC):c.1170A>G (p.Lys390=)
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534
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.1185dup (p.Arg396fs)
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208
NM_000153.4(GALC):c.1188G>T (p.Arg396=)
NM_000153.4(GALC):c.1191A>G (p.Pro397=) rs376181222
NM_000153.4(GALC):c.119G>A (p.Gly40Asp) rs572947747
NM_000153.4(GALC):c.120C>A (p.Gly40=) rs532800656
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1213_1214insTA (p.Ser405fs)
NM_000153.4(GALC):c.121G>A (p.Gly41Ser) rs387906955
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.1252-115T>C rs440426
NM_000153.4(GALC):c.1252-166G>A rs451073
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.1268T>C (p.Leu423Pro) rs1566976644
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180
NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter) rs1057517372
NM_000153.4(GALC):c.1273del (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1273dup (p.Val425fs) rs1057516394
NM_000153.4(GALC):c.1280A>G (p.Tyr427Cys)
NM_000153.4(GALC):c.129C>A (p.Tyr43Ter) rs1057516816
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.1338+159C>T rs3213917
NM_000153.4(GALC):c.1338+1G>C rs1555379669
NM_000153.4(GALC):c.1338+23T>C rs74076317
NM_000153.4(GALC):c.1339-10T>C
NM_000153.4(GALC):c.1339-1G>T
NM_000153.4(GALC):c.1339-61C>T
NM_000153.4(GALC):c.1339-8dup
NM_000153.4(GALC):c.1350C>T (p.Ser450=) rs398076
NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr)
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp) rs1057520151
NM_000153.4(GALC):c.136G>C (p.Asp46His)
NM_000153.4(GALC):c.136G>T (p.Asp46Tyr) rs751975987
NM_000153.4(GALC):c.1376A>G (p.His459Arg) rs755193670
NM_000153.4(GALC):c.1392C>A (p.Phe464Leu)
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile) rs1566974586
NM_000153.4(GALC):c.1398C>T (p.Leu466=)
NM_000153.4(GALC):c.1399dup (p.Thr467fs) rs1057518390
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1411_1432del (p.Thr471fs)
NM_000153.4(GALC):c.1418G>A (p.Arg473His) rs374868151
NM_000153.4(GALC):c.1419C>T (p.Arg473=)
NM_000153.4(GALC):c.141C>T (p.Asp47=)
NM_000153.4(GALC):c.141_143delinsG (p.Asp47fs) rs1555384335
NM_000153.4(GALC):c.1426dup (p.Ser476fs) rs1057517082
NM_000153.4(GALC):c.1434G>A (p.Pro478=) rs200231860
NM_000153.4(GALC):c.1436T>C (p.Leu479Pro)
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.1488_1489+2del rs1555379355
NM_000153.4(GALC):c.1489+3G>A rs186664912
NM_000153.4(GALC):c.1489+9T>C
NM_000153.4(GALC):c.1490-233C>T rs3910682
NM_000153.4(GALC):c.1490-6G>A
NM_000153.4(GALC):c.1490-7T>A
NM_000153.4(GALC):c.1490-8C>G
NM_000153.4(GALC):c.1506T>C (p.Ser502=)
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu) rs1555379155
NM_000153.4(GALC):c.151C>T (p.Leu51=)
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1551T>C (p.Phe517=)
NM_000153.4(GALC):c.155del (p.Gly52fs) rs1064793131
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr) rs370952794
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.157C>T (p.Arg53Trp) rs752371343
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.1592G>C (p.Arg531Pro) 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.1619C>T (p.Thr540Ile)
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.1630G>A (p.Asp544Asn) rs387906952
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala) rs886050864
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754
NM_000153.4(GALC):c.165C>G (p.Phe55Leu)
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter) rs1566972341
NM_000153.4(GALC):c.1670+10A>G
NM_000153.4(GALC):c.1670+19A>T rs141839955
NM_000153.4(GALC):c.1670+1G>A rs749597090
NM_000153.4(GALC):c.1670+204T>C rs430536
NM_000153.4(GALC):c.1670+94A>G rs444902
NM_000153.4(GALC):c.1671-15C>T rs12432149
NM_000153.4(GALC):c.1671-1G>A rs1182103005
NM_000153.4(GALC):c.1671-319A>G rs367125
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.1690T>G (p.Cys564Gly) rs1595190129
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.169G>A (p.Gly57Ser) rs11623
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)
NM_000153.4(GALC):c.1710C>T (p.Thr570=)
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer) rs1555378701
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala) rs200219480
NM_000153.4(GALC):c.1727T>C (p.Val576Ala)
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122
NM_000153.4(GALC):c.173del (p.Ile58fs) rs1064795927
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.1753G>T (p.Gly585Cys)
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
NM_000153.4(GALC):c.1760T>C (p.Ile587Thr)
NM_000153.4(GALC):c.1762_1763del (p.Leu588fs)
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer) rs751283440
NM_000153.4(GALC):c.176del (p.Gly59fs)
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser) rs1360345372
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.1796T>G (p.Ile599Ser) rs387906953
NM_000153.4(GALC):c.179C>T (p.Ala60Val) rs759110815
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.1835-1G>A rs1555378562
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter) rs1057517033
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.187_188insAGC (p.Gly63delinsGluArg) rs1595245961
NM_000153.4(GALC):c.1884A>G (p.Lys628=)
NM_000153.4(GALC):c.1884del (p.Lys628fs)
NM_000153.4(GALC):c.1884dup (p.Trp629fs) rs1336726861
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu) rs1566967736
NM_000153.4(GALC):c.1887del (p.Trp629fs)
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter) rs1057516453
NM_000153.4(GALC):c.1890T>C (p.Tyr630=)
NM_000153.4(GALC):c.1893A>G (p.Thr631=)
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.1897dup (p.Thr633fs) rs1555378538
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.1901del (p.Thr633_Leu634insTer) rs1555378534
NM_000153.4(GALC):c.190_195+9del rs1057517187
NM_000153.4(GALC):c.1911+10G>A
NM_000153.4(GALC):c.1911+122C>G rs45567441
NM_000153.4(GALC):c.1911+129G>A rs45626938
NM_000153.4(GALC):c.1911+1_1911+5del rs777955784
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.1912-170C>T rs433764
NM_000153.4(GALC):c.1912-1G>C rs1555377947
NM_000153.4(GALC):c.1912-220T>G rs390474
NM_000153.4(GALC):c.1912-7A>G
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272
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.1934T>G (p.Leu645Arg)
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)
NM_000153.4(GALC):c.1947T>C (p.Ser649=)
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480
NM_000153.4(GALC):c.194G>A (p.Gly65Glu) rs1555384318
NM_000153.4(GALC):c.195+10A>G rs191767015
NM_000153.4(GALC):c.195+12G>A
NM_000153.4(GALC):c.195+15G>A rs748140458
NM_000153.4(GALC):c.195+164G>A rs78727833
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+1G>C 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.196-12dup
NM_000153.4(GALC):c.196-201del rs112118889
NM_000153.4(GALC):c.196-3del rs561184126
NM_000153.4(GALC):c.196-43C>T rs2289511
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.196G>A (p.Ala66Thr) rs1057518843
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter) rs762034337
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000153.4(GALC):c.1987del (p.Trp663fs)
NM_000153.4(GALC):c.1992T>C (p.Ala664=) rs763585644
NM_000153.4(GALC):c.1997T>C (p.Ile666Thr) rs1461381844
NM_000153.4(GALC):c.1A>G (p.Met1Val) rs1555384382
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.2035T>C (p.Phe679Leu) rs779202612
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs)
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs)
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.2040T>C (p.Leu680=)
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.4(GALC):c.204C>T (p.Ser68=)
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser) rs756141815
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>G (p.Tyr74Ter) rs959445153
NM_000153.4(GALC):c.222C>T (p.Tyr74=)
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys)
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.251A>G (p.Asp84Gly) rs1555383882
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.287A>G (p.His96Arg)
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083
NM_000153.4(GALC):c.293dup (p.Leu98fs)
NM_000153.4(GALC):c.2T>A (p.Met1Lys) rs780972896
NM_000153.4(GALC):c.2T>C (p.Met1Thr) rs780972896
NM_000153.4(GALC):c.302_308dup (p.Gly104fs)
NM_000153.4(GALC):c.308G>T (p.Gly103Val) rs1567014169
NM_000153.4(GALC):c.313G>A (p.Asp105Asn)
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+3A>G rs377682096
NM_000153.4(GALC):c.328+6A>G rs201977747
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.329-35G>A rs77466023
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.332G>A (p.Gly111Asp)
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.380G>T (p.Arg127Leu)
NM_000153.4(GALC):c.383G>C (p.Gly128Ala) rs367604629
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter) rs1240965365
NM_000153.4(GALC):c.387C>T (p.Tyr129=) rs1240965365
NM_000153.4(GALC):c.388G>A (p.Glu130Lys) rs374635469
NM_000153.4(GALC):c.391T>C (p.Trp131Arg)
NM_000153.4(GALC):c.397T>C (p.Leu133=) rs56194647
NM_000153.4(GALC):c.398TGA[1] (p.Met134del)
NM_000153.4(GALC):c.3G>A (p.Met1Ile) rs758685128
NM_000153.4(GALC):c.3G>T (p.Met1Ile)
NM_000153.4(GALC):c.40G>A (p.Ala14Thr)
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.414G>A (p.Lys138=)
NM_000153.4(GALC):c.415A>T (p.Lys139Ter) rs1057516673
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.426C>T (p.Pro142=)
NM_000153.4(GALC):c.428A>G (p.Asn143Ser) rs753623482
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.434C>T (p.Thr145Ile)
NM_000153.4(GALC):c.435A>G (p.Thr145=)
NM_000153.4(GALC):c.442+1G>A
NM_000153.4(GALC):c.442+2T>G rs1057516632
NM_000153.4(GALC):c.442+4A>G
NM_000153.4(GALC):c.443-12T>G rs886038261
NM_000153.4(GALC):c.443-1G>C
NM_000153.4(GALC):c.443-2A>G rs1595236714
NM_000153.4(GALC):c.443-30C>T rs886038262
NM_000153.4(GALC):c.450A>G (p.Pro150=)
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866
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.467_468dup (p.Leu157fs) rs1057517185
NM_000153.4(GALC):c.483C>T (p.Phe161=)
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511
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.49A>G (p.Met17Val) rs376662045
NM_000153.4(GALC):c.49_50del (p.Met17fs) rs1555384360
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170
NM_000153.4(GALC):c.516C>A (p.Ala172=)
NM_000153.4(GALC):c.516C>T (p.Ala172=)
NM_000153.4(GALC):c.521del (p.Tyr174fs) rs1555383517
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.533G>A (p.Trp178Ter) rs968905231
NM_000153.4(GALC):c.537T>C (p.Ile179=) rs776341276
NM_000153.4(GALC):c.53C>T (p.Thr18Ile) rs755139799
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.555_575del (p.His186_Tyr192del) rs1555383500
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) rs1555383498
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+5G>A rs757016859
NM_000153.4(GALC):c.582+7A>G
NM_000153.4(GALC):c.583-11T>C rs886050865
NM_000153.4(GALC):c.583-1G>C rs1555383310
NM_000153.4(GALC):c.583-288G>A rs74563284
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.583A>G (p.Ile195Val) rs1555383309
NM_000153.4(GALC):c.591dup (p.Glu198Ter) rs1555383308
NM_000153.4(GALC):c.592G>A (p.Glu198Lys) rs909979938
NM_000153.4(GALC):c.597G>T (p.Arg199Ser)
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+1G>A rs759511006
NM_000153.4(GALC):c.621+24T>C rs45568734
NM_000153.4(GALC):c.621+5G>A rs1555383306
NM_000153.4(GALC):c.621+8C>G
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.622-10A>C
NM_000153.4(GALC):c.622-137CAAA[4] rs146880216
NM_000153.4(GALC):c.622-162del rs112016425
NM_000153.4(GALC):c.622-175C>T rs111931900
NM_000153.4(GALC):c.622-273G>A rs148708614
NM_000153.4(GALC):c.622-284C>T rs112469201
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.64G>C (p.Gly22Arg)
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.65G>C (p.Gly22Ala)
NM_000153.4(GALC):c.65_74del (p.Gly22fs) rs1595246385
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.680A>G (p.Asp227Gly)
NM_000153.4(GALC):c.686_694del (p.Leu229_Ser232delinsPro)
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) rs542231350
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.739G>T (p.Val247Phe)
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.750A>G (p.Ile250Met)
NM_000153.4(GALC):c.752+10G>A
NM_000153.4(GALC):c.752+199A>T rs4904409
NM_000153.4(GALC):c.752+1G>A
NM_000153.4(GALC):c.752+3A>G rs1567000413
NM_000153.4(GALC):c.752+8A>C
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.764C>G (p.Pro255Arg)
NM_000153.4(GALC):c.787G>A (p.Ala263Thr) rs1308816724
NM_000153.4(GALC):c.788C>G (p.Ala263Gly) rs1292976689
NM_000153.4(GALC):c.789A>G (p.Ala263=)
NM_000153.4(GALC):c.798T>C (p.Thr266=)
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
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.827_828del (p.Asp275_Phe276insTer) rs1555381958
NM_000153.4(GALC):c.828T>C (p.Phe276=)
NM_000153.4(GALC):c.82G>A (p.Ala28Thr)
NM_000153.4(GALC):c.830G>A (p.Ser277Asn)
NM_000153.4(GALC):c.832A>C (p.Thr278Pro) rs886042645
NM_000153.4(GALC):c.832A>G (p.Thr278Ala) rs886042645
NM_000153.4(GALC):c.839A>G (p.Asn280Ser)
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.862T>C (p.Trp288Arg) rs398123177
NM_000153.4(GALC):c.863G>A (p.Trp288Ter)
NM_000153.4(GALC):c.868C>T (p.Arg290Cys) rs780750448
NM_000153.4(GALC):c.869G>A (p.Arg290His) rs746806459
NM_000153.4(GALC):c.884A>C (p.Asn295Thr) rs746922378
NM_000153.4(GALC):c.884A>T (p.Asn295Ile) rs746922378
NM_000153.4(GALC):c.908+1G>A rs750524447
NM_000153.4(GALC):c.908+1G>T rs750524447
NM_000153.4(GALC):c.908+270T>A rs397644
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.909-3del
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.916G>A (p.Ala306Thr) rs1349064845
NM_000153.4(GALC):c.918A>T (p.Ala306=)
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079
NM_000153.4(GALC):c.933T>C (p.Ala311=)
NM_000153.4(GALC):c.943del (p.Glu315fs)
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.973A>G (p.Met325Val) rs772190761
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_000153.4(GALC):c.9del (p.Glu3fs) rs1555384380
NM_000153.4:c.(1161+1_1162-1)_(*1718_?)del
NM_001201402.1(GALC):c.102delinsTTCC (p.Glu35_Glu36insSer) rs1555384440
NM_001201402.1(GALC):c.117+1G>C rs1555384433
NM_001201402.1(GALC):c.117dup (p.Ala40fs) rs1555384436
NM_001201402.1(GALC):c.20del (p.Gly7fs) rs1555384465
NM_001201402.1(GALC):c.40dup (p.Leu14fs) rs1555384458
NM_001201402.1(GALC):c.52dup (p.Asp18fs) rs1482465546
NM_001201402.1(GALC):c.75C>A (p.Cys25Ter) rs1307710694
NM_001201402.1(GALC):c.81dup (p.Val28fs) rs1555384444
NM_001201402.1(GALC):c.9G>T (p.Gly3=) rs185943390
NM_001201402.2(GALC):c.-128C>T
NM_001201402.2(GALC):c.113C>T (p.Pro38Leu) rs181004720
NM_001201402.2(GALC):c.117+134T>A rs886050870
NM_001201402.2(GALC):c.117+146G>A
NM_001201402.2(GALC):c.117+190del rs886050869
NM_001201402.2(GALC):c.117+198C>T rs768255795
NM_001201402.2(GALC):c.117+71T>C rs76999174
Single allele

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