NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)
|
rs190921137
|
0.00248
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_000153.4(GALC):c.1489+3G>A
|
rs186664912
|
0.00124
|
NM_000153.4(GALC):c.-327G>T
|
rs185943390
|
0.00120
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_000153.4(GALC):c.*1451C>A
|
rs138919458
|
0.00054
|
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)
|
rs73312829
|
0.00041
|
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.1629C>T (p.Ala543=)
|
rs201055535
|
0.00015
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr)
|
rs370952794
|
0.00013
|
NM_000153.4(GALC):c.328+6A>G
|
rs201977747
|
0.00011
|
NM_000153.4(GALC):c.82G>A (p.Ala28Thr)
|
rs776663863
|
0.00011
|
NM_000153.4(GALC):c.1042A>T (p.Thr348Ser)
|
rs200516260
|
0.00009
|
NM_000153.4(GALC):c.*405A>G
|
rs143839879
|
0.00008
|
NM_000153.4(GALC):c.*1458T>C
|
rs757918900
|
0.00006
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
NM_000153.4(GALC):c.1819G>T (p.Val607Phe)
|
rs929215561
|
0.00006
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)
|
rs371523347
|
0.00006
|
NM_000153.4(GALC):c.53C>T (p.Thr18Ile)
|
rs755139799
|
0.00006
|
NM_000153.4(GALC):c.-63C>G
|
rs1055562642
|
0.00004
|
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile)
|
rs557464603
|
0.00004
|
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)
|
rs540808138
|
0.00004
|
NM_000153.4(GALC):c.1861C>T (p.Arg621Cys)
|
rs755930402
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000153.4(GALC):c.226G>A (p.Glu76Lys)
|
rs778447883
|
0.00004
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
NM_000153.4(GALC):c.500A>G (p.Asn167Ser)
|
rs768993170
|
0.00004
|
NM_000153.4(GALC):c.1702A>G (p.Ile568Val)
|
rs371792183
|
0.00003
|
NM_000153.4(GALC):c.1946C>T (p.Ser649Phe)
|
rs1158521193
|
0.00003
|
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu)
|
rs779202612
|
0.00003
|
NM_000153.4(GALC):c.23C>T (p.Ala8Val)
|
rs376511103
|
0.00003
|
NM_000153.4(GALC):c.434C>T (p.Thr145Ile)
|
rs781281519
|
0.00003
|
NM_000153.4(GALC):c.788C>G (p.Ala263Gly)
|
rs1292976689
|
0.00003
|
NM_000153.4(GALC):c.839A>G (p.Asn280Ser)
|
rs1463589873
|
0.00003
|
NM_000153.4(GALC):c.94C>A (p.Leu32Met)
|
rs770807058
|
0.00003
|
NM_000153.4(GALC):c.122G>C (p.Gly41Ala)
|
rs1287272360
|
0.00002
|
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser)
|
rs771051919
|
0.00002
|
NM_000153.4(GALC):c.1587G>A (p.Thr529=)
|
rs184748969
|
0.00002
|
NM_000153.4(GALC):c.1671-1G>A
|
rs1182103005
|
0.00002
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
0.00002
|
NM_000153.4(GALC):c.448C>T (p.Pro150Ser)
|
rs372568602
|
0.00002
|
NM_000153.4(GALC):c.583-4G>T
|
rs751820306
|
0.00002
|
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)
|
rs373077659
|
0.00002
|
NM_000153.4(GALC):c.909-10A>G
|
rs398123178
|
0.00002
|
NM_000153.2(GALC):c.-261C>A
|
rs1307710694
|
0.00001
|
NM_000153.3(GALC):c.-21C>T
|
rs768255795
|
0.00001
|
NM_000153.4(GALC):c.*12G>A
|
rs372641636
|
0.00001
|
NM_000153.4(GALC):c.*14A>G
|
rs143444570
|
0.00001
|
NM_000153.4(GALC):c.-17G>A
|
rs886050868
|
0.00001
|
NM_000153.4(GALC):c.108G>A (p.Leu36=)
|
rs923261706
|
0.00001
|
NM_000153.4(GALC):c.1172A>G (p.His391Arg)
|
rs1395397636
|
0.00001
|
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)
|
rs1200769534
|
0.00001
|
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr)
|
rs569569879
|
0.00001
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000153.4(GALC):c.118G>A (p.Gly40Ser)
|
rs780050514
|
0.00001
|
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu)
|
rs1365128831
|
0.00001
|
NM_000153.4(GALC):c.1280A>G (p.Tyr427Cys)
|
rs201591903
|
0.00001
|
NM_000153.4(GALC):c.1418G>A (p.Arg473His)
|
rs374868151
|
0.00001
|
NM_000153.4(GALC):c.1436T>C (p.Leu479Pro)
|
rs1414778573
|
0.00001
|
NM_000153.4(GALC):c.1441C>T (p.Pro481Ser)
|
rs759122249
|
0.00001
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
|
rs753164684
|
0.00001
|
NM_000153.4(GALC):c.1727T>C (p.Val576Ala)
|
rs774555128
|
0.00001
|
NM_000153.4(GALC):c.1752A>G (p.Lys584=)
|
rs201016488
|
0.00001
|
NM_000153.4(GALC):c.1760T>C (p.Ile587Thr)
|
rs368818550
|
0.00001
|
NM_000153.4(GALC):c.1871T>A (p.Val624Asp)
|
rs1308536313
|
0.00001
|
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)
|
rs1418694289
|
0.00001
|
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
|
rs766762599
|
0.00001
|
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser)
|
rs769851272
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
0.00001
|
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys)
|
rs367958957
|
0.00001
|
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)
|
rs1555383882
|
0.00001
|
NM_000153.4(GALC):c.40G>A (p.Ala14Thr)
|
rs1180517690
|
0.00001
|
NM_000153.4(GALC):c.443-12T>G
|
rs886038261
|
0.00001
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.486C>A (p.Asp162Glu)
|
rs767286511
|
0.00001
|
NM_000153.4(GALC):c.582+5G>A
|
rs757016859
|
0.00001
|
NM_000153.4(GALC):c.583-6T>A
|
rs398123176
|
0.00001
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
NM_000153.4(GALC):c.752+3A>G
|
rs1567000413
|
0.00001
|
NM_000153.4(GALC):c.787G>A (p.Ala263Thr)
|
rs1308816724
|
0.00001
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
NM_000153.4(GALC):c.84G>A (p.Ala28=)
|
rs1246098637
|
0.00001
|
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)
|
rs1349064845
|
0.00001
|
NM_000153.4(GALC):c.927A>C (p.Leu309Phe)
|
rs758904079
|
0.00001
|
NM_000153.4(GALC):c.949T>A (p.Leu317Met)
|
rs766071179
|
0.00001
|
NC_000014.8:g.(?_88416169)_(88459863_?)dup
|
|
|
NC_000014.9:g.87925139C>T
|
rs1555377065
|
|
NC_000014.9:g.87925152T>C
|
rs1555377066
|
|
NC_000014.9:g.87925176G>A
|
rs1234372203
|
|
NM_000153.2(GALC):c.-218G>C
|
rs1555384433
|
|
NM_000153.2(GALC):c.-219dup
|
rs1555384436
|
|
NM_000153.2(GALC):c.-234delGinsTTCC
|
rs1555384440
|
|
NM_000153.2(GALC):c.-257dup
|
rs1555384444
|
|
NM_000153.2(GALC):c.-285dup
|
rs1482465546
|
|
NM_000153.2(GALC):c.-296dup
|
rs1555384458
|
|
NM_000153.2(GALC):c.-317delG
|
rs1555384465
|
|
NM_000153.3(GALC):c.-31delC
|
rs886050869
|
|
NM_000153.3(GALC):c.-73G>A
|
rs1887315658
|
|
NM_000153.3(GALC):c.-85T>A
|
rs886050870
|
|
NM_000153.4(GALC):c.*1584G>A
|
rs893698376
|
|
NM_000153.4(GALC):c.*1598G>A
|
rs574189020
|
|
NM_000153.4(GALC):c.*1625A>G
|
rs188934153
|
|
NM_000153.4(GALC):c.*363A>G
|
rs539617222
|
|
NM_000153.4(GALC):c.*366A>G
|
rs1884480659
|
|
NM_000153.4(GALC):c.*375A>G
|
rs1884480331
|
|
NM_000153.4(GALC):c.*389G>T
|
rs1884479809
|
|
NM_000153.4(GALC):c.*455A>G
|
rs1884476134
|
|
NM_000153.4(GALC):c.*486C>G
|
rs1280004708
|
|
NM_000153.4(GALC):c.*499T>C
|
rs1226531123
|
|
NM_000153.4(GALC):c.*591G>A
|
rs886050863
|
|
NM_000153.4(GALC):c.*877T>A
|
rs185181747
|
|
NM_000153.4(GALC):c.*994C>A
|
rs1884455084
|
|
NM_000153.4(GALC):c.*999T>C
|
rs1267707327
|
|
NM_000153.4(GALC):c.-68C>T
|
rs369469562
|
|
NM_000153.4(GALC):c.-80_-75delATCAGC
|
rs564526560
|
|
NM_000153.4(GALC):c.103G>A (p.Ala35Thr)
|
rs1359964555
|
|
NM_000153.4(GALC):c.1042A>G (p.Thr348Ala)
|
rs200516260
|
|
NM_000153.4(GALC):c.1049T>G (p.Phe350Cys)
|
|
|
NM_000153.4(GALC):c.1072C>G (p.Leu358Val)
|
|
|
NM_000153.4(GALC):c.1078A>G (p.Thr360Ala)
|
rs1298443144
|
|
NM_000153.4(GALC):c.1078A>T (p.Thr360Ser)
|
|
|
NM_000153.4(GALC):c.1081G>A (p.Val361Ile)
|
|
|
NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser)
|
|
|
NM_000153.4(GALC):c.1110C>T (p.Tyr370=)
|
rs372793797
|
|
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr)
|
rs759286485
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
NM_000153.4(GALC):c.1150A>G (p.Ile384Val)
|
rs1192791166
|
|
NM_000153.4(GALC):c.1159A>G (p.Met387Val)
|
|
|
NM_000153.4(GALC):c.1161+9T>C
|
rs1885891419
|
|
NM_000153.4(GALC):c.1162-4dup
|
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.1165C>G (p.His389Asp)
|
rs368284541
|
|
NM_000153.4(GALC):c.1168A>G (p.Lys390Glu)
|
rs2139963715
|
|
NM_000153.4(GALC):c.1183A>C (p.Ile395Leu)
|
rs763125933
|
|
NM_000153.4(GALC):c.119G>A (p.Gly40Asp)
|
rs572947747
|
|
NM_000153.4(GALC):c.119G>C (p.Gly40Ala)
|
|
|
NM_000153.4(GALC):c.1202A>G (p.Tyr401Cys)
|
|
|
NM_000153.4(GALC):c.1206C>G (p.Phe402Leu)
|
|
|
NM_000153.4(GALC):c.1208A>G (p.Asn403Ser)
|
rs777305549
|
|
NM_000153.4(GALC):c.1213T>A (p.Ser405Thr)
|
|
|
NM_000153.4(GALC):c.1213_1214insTA (p.Ser405fs)
|
rs1885266822
|
|
NM_000153.4(GALC):c.1221A>T (p.Gln407His)
|
|
|
NM_000153.4(GALC):c.1225G>T (p.Ala409Ser)
|
|
|
NM_000153.4(GALC):c.1247C>G (p.Ser416Cys)
|
|
|
NM_000153.4(GALC):c.1251+5G>A
|
rs755870379
|
|
NM_000153.4(GALC):c.1251+5_1251+8del
|
|
|
NM_000153.4(GALC):c.1252-3C>T
|
|
|
NM_000153.4(GALC):c.1268T>C (p.Leu423Pro)
|
rs1566976644
|
|
NM_000153.4(GALC):c.1298C>T (p.Thr433Ile)
|
|
|
NM_000153.4(GALC):c.1303G>A (p.Glu435Lys)
|
|
|
NM_000153.4(GALC):c.1338+16A>G
|
|
|
NM_000153.4(GALC):c.1338G>C (p.Trp446Cys)
|
rs2139961409
|
|
NM_000153.4(GALC):c.1340_1341delinsAT (p.Leu447His)
|
|
|
NM_000153.4(GALC):c.1348A>G (p.Ser450Gly)
|
rs1019851510
|
|
NM_000153.4(GALC):c.1350C>G (p.Ser450Arg)
|
|
|
NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr)
|
rs557778528
|
|
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp)
|
rs1057520151
|
|
NM_000153.4(GALC):c.1358G>T (p.Ser453Ile)
|
rs2139956768
|
|
NM_000153.4(GALC):c.1364C>T (p.Thr455Ile)
|
|
|
NM_000153.4(GALC):c.1366C>G (p.Leu456Val)
|
|
|
NM_000153.4(GALC):c.1367T>C (p.Leu456Pro)
|
|
|
NM_000153.4(GALC):c.1370G>A (p.Ser457Asn)
|
rs1195834672
|
|
NM_000153.4(GALC):c.1370G>T (p.Ser457Ile)
|
rs1195834672
|
|
NM_000153.4(GALC):c.1376A>G (p.His459Arg)
|
rs755193670
|
|
NM_000153.4(GALC):c.1385A>C (p.Glu462Ala)
|
|
|
NM_000153.4(GALC):c.1392C>A (p.Phe464Leu)
|
rs1313792705
|
|
NM_000153.4(GALC):c.1396C>A (p.Leu466Ile)
|
|
|
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)
|
rs750431739
|
|
NM_000153.4(GALC):c.1405C>G (p.Leu469Val)
|
|
|
NM_000153.4(GALC):c.1405C>T (p.Leu469Phe)
|
|
|
NM_000153.4(GALC):c.1417C>T (p.Arg473Cys)
|
|
|
NM_000153.4(GALC):c.1460C>T (p.Pro487Leu)
|
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1489+6T>G
|
|
|
NM_000153.4(GALC):c.1490-7T>A
|
rs1885047183
|
|
NM_000153.4(GALC):c.1490-8C>G
|
rs1362723313
|
|
NM_000153.4(GALC):c.1496C>T (p.Pro499Leu)
|
rs2139951685
|
|
NM_000153.4(GALC):c.14T>C (p.Leu5Pro)
|
|
|
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu)
|
rs1555379155
|
|
NM_000153.4(GALC):c.1523C>T (p.Ala508Val)
|
rs2139951602
|
|
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)
|
rs794727116
|
|
NM_000153.4(GALC):c.1561G>A (p.Glu521Lys)
|
|
|
NM_000153.4(GALC):c.1577A>G (p.His526Arg)
|
rs2139951434
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NM_000153.4(GALC):c.1589T>C (p.Leu530Pro)
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rs2139951392
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NM_000153.4(GALC):c.1592G>C (p.Arg531Pro)
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rs200378205
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NM_000153.4(GALC):c.1622G>T (p.Trp541Leu)
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rs2139951226
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NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)
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rs1289015582
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NM_000153.4(GALC):c.1642A>G (p.Thr548Ala)
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rs886050864
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NM_000153.4(GALC):c.1667A>G (p.Asn556Ser)
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NM_000153.4(GALC):c.1670+6A>G
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NM_000153.4(GALC):c.1718C>T (p.Thr573Ile)
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rs2139941538
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NM_000153.4(GALC):c.1744G>A (p.Val582Ile)
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NM_000153.4(GALC):c.1758T>C (p.Gly586=)
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rs746189262
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NM_000153.4(GALC):c.1759A>G (p.Ile587Val)
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NM_000153.4(GALC):c.1772G>A (p.Ser591Asn)
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NM_000153.4(GALC):c.1774G>A (p.Ala592Thr)
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NM_000153.4(GALC):c.1774G>T (p.Ala592Ser)
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rs1360345372
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NM_000153.4(GALC):c.1778G>C (p.Arg593Thr)
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rs1566969057
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NM_000153.4(GALC):c.1781G>A (p.Gly594Glu)
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rs2139941367
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NM_000153.4(GALC):c.1789_1800del (p.Phe597_Phe600del)
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rs2139941321
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NM_000153.4(GALC):c.1816A>T (p.Arg606Trp)
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NM_000153.4(GALC):c.1892C>T (p.Thr631Ile)
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NM_000153.4(GALC):c.1904C>A (p.Thr635Asn)
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NM_000153.4(GALC):c.1911+4A>G
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NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)
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rs1884501856
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NM_000153.4(GALC):c.1946C>G (p.Ser649Cys)
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rs1158521193
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NM_000153.4(GALC):c.196-14A>G
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NM_000153.4(GALC):c.1978A>G (p.Lys660Glu)
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NM_000153.4(GALC):c.1980G>C (p.Lys660Asn)
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NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)
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rs1060499761
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NM_000153.4(GALC):c.2003C>G (p.Thr668Ser)
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NM_000153.4(GALC):c.2006A>G (p.His669Arg)
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NM_000153.4(GALC):c.2025G>T (p.Gln675His)
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NM_000153.4(GALC):c.2033A>G (p.Asn678Ser)
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NM_000153.4(GALC):c.203C>T (p.Ser68Phe)
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rs1555383892
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NM_000153.4(GALC):c.2050A>G (p.Thr684Ala)
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NM_000153.4(GALC):c.2053C>A (p.Arg685Ser)
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rs756141815
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NM_000153.4(GALC):c.2058A>C (p.Ter686Tyr)
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NM_000153.4(GALC):c.205C>G (p.Arg69Gly)
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NM_000153.4(GALC):c.250G>A (p.Asp84Asn)
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rs2139759348
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NM_000153.4(GALC):c.254A>C (p.Tyr85Ser)
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NM_000153.4(GALC):c.25T>G (p.Ser9Ala)
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NM_000153.4(GALC):c.264+5T>A
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rs2139759293
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NM_000153.4(GALC):c.265-3C>G
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NM_000153.4(GALC):c.270T>A (p.Asn90Lys)
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NM_000153.4(GALC):c.280T>C (p.Ser94Pro)
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NM_000153.4(GALC):c.313G>A (p.Asp105Asn)
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rs1361755363
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NM_000153.4(GALC):c.328+3A>G
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rs377682096
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NM_000153.4(GALC):c.329-10_329-8del
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rs770389075
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NM_000153.4(GALC):c.32A>G (p.Gln11Arg)
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rs2139769922
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NM_000153.4(GALC):c.356A>C (p.Tyr119Ser)
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rs2139754980
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NM_000153.4(GALC):c.369G>T (p.Glu123Asp)
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NM_000153.4(GALC):c.370A>G (p.Asn124Asp)
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NM_000153.4(GALC):c.37C>G (p.Arg13Gly)
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rs1173602413
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NM_000153.4(GALC):c.383G>C (p.Gly128Ala)
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rs367604629
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NM_000153.4(GALC):c.398TGA[1] (p.Met134del)
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rs1886979623
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NM_000153.4(GALC):c.3G>T (p.Met1Ile)
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rs758685128
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NM_000153.4(GALC):c.411_413del (p.Lys139del)
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rs1555383687
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NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
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rs373587692
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NM_000153.4(GALC):c.442+4A>G
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rs753169234
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NM_000153.4(GALC):c.44A>G (p.Lys15Arg)
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NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
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NM_000153.4(GALC):c.484G>A (p.Asp162Asn)
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NM_000153.4(GALC):c.509T>C (p.Leu170Pro)
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NM_000153.4(GALC):c.50T>A (p.Met17Lys)
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NM_000153.4(GALC):c.514G>A (p.Ala172Thr)
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NM_000153.4(GALC):c.516C>T (p.Ala172=)
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rs1248283732
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NM_000153.4(GALC):c.518A>G (p.Tyr173Cys)
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rs1388075066
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NM_000153.4(GALC):c.541G>A (p.Gly181Ser)
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NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del)
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rs1555383500
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NM_000153.4(GALC):c.578T>C (p.Ile193Thr)
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rs1555383498
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NM_000153.4(GALC):c.581G>C (p.Gly194Ala)
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rs963756824
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NM_000153.4(GALC):c.583-11T>C
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rs886050865
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NM_000153.4(GALC):c.583-6T>G
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NM_000153.4(GALC):c.583A>G (p.Ile195Val)
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rs1555383309
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NM_000153.4(GALC):c.597G>T (p.Arg199Ser)
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rs1886780825
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NM_000153.4(GALC):c.598T>C (p.Ser200Pro)
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NM_000153.4(GALC):c.61_63delinsCCA (p.Ala21Pro)
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NM_000153.4(GALC):c.621G>A (p.Lys207=)
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rs1428763453
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NM_000153.4(GALC):c.635T>C (p.Met212Thr)
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NM_000153.4(GALC):c.63G>A (p.Ala21=)
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NM_000153.4(GALC):c.64G>C (p.Gly22Arg)
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rs768031195
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NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
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rs372285275
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NM_000153.4(GALC):c.65G>C (p.Gly22Ala)
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rs372285275
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NM_000153.4(GALC):c.678T>C (p.Ser226=)
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rs1595226323
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NM_000153.4(GALC):c.679G>C (p.Asp227His)
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NM_000153.4(GALC):c.680A>G (p.Asp227Gly)
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rs1886495923
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NM_000153.4(GALC):c.682A>G (p.Asn228Asp)
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rs2140016299
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NM_000153.4(GALC):c.68C>T (p.Ser23Leu)
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NM_000153.4(GALC):c.691G>A (p.Glu231Lys)
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rs542231350
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NM_000153.4(GALC):c.693G>C (p.Glu231Asp)
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NM_000153.4(GALC):c.693G>T (p.Glu231Asp)
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NM_000153.4(GALC):c.695C>G (p.Ser232Cys)
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NM_000153.4(GALC):c.709A>G (p.Met237Val)
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NM_000153.4(GALC):c.719A>G (p.Asp240Gly)
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NM_000153.4(GALC):c.71C>G (p.Ala24Gly)
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NM_000153.4(GALC):c.724G>A (p.Glu242Lys)
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NM_000153.4(GALC):c.750A>G (p.Ile250Met)
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rs2140016054
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NM_000153.4(GALC):c.752+8A>C
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rs750292340
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NM_000153.4(GALC):c.754G>C (p.Ala252Pro)
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rs866358110
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NM_000153.4(GALC):c.758A>G (p.His253Arg)
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NM_000153.4(GALC):c.773A>C (p.His258Pro)
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NM_000153.4(GALC):c.77G>A (p.Arg26His)
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NM_000153.4(GALC):c.79G>T (p.Ala27Ser)
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NM_000153.4(GALC):c.815C>T (p.Ser272Phe)
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NM_000153.4(GALC):c.82G>T (p.Ala28Ser)
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NM_000153.4(GALC):c.830G>A (p.Ser277Asn)
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rs1886145312
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NM_000153.4(GALC):c.832A>G (p.Thr278Ala)
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rs886042645
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NM_000153.4(GALC):c.83C>T (p.Ala28Val)
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NM_000153.4(GALC):c.848T>C (p.Met283Thr)
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NM_000153.4(GALC):c.85G>A (p.Val29Met)
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NM_000153.4(GALC):c.896_897delinsAG (p.Gly299Glu)
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rs2140001432
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NM_000153.4(GALC):c.8A>G (p.Glu3Gly)
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NM_000153.4(GALC):c.8A>T (p.Glu3Val)
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rs2139770080
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NM_000153.4(GALC):c.905C>T (p.Thr302Ile)
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NM_000153.4(GALC):c.909-3del
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rs1212915595
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NM_000153.4(GALC):c.92T>C (p.Leu31Ser)
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NM_000153.4(GALC):c.938A>G (p.Tyr313Cys)
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NM_000153.4(GALC):c.973A>G (p.Met325Val)
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rs772190761
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NM_000153.4(GALC):c.977C>T (p.Thr326Met)
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NM_000153.4:c.[1592G>A];[334A>G]
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NM_001201402.2(GALC):c.62T>C (p.Ile21Thr)
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