NM_000153.4(GALC):c.1698A>T (p.Val566=)
|
rs421466
|
0.95773
|
NM_000153.4(GALC):c.1620A>G (p.Thr540=)
|
rs367327
|
0.95611
|
NM_000153.4(GALC):c.1834+5C>G
|
rs448805
|
0.95475
|
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)
|
rs421262
|
0.95462
|
NM_000153.4(GALC):c.1350C>T (p.Ser450=)
|
rs398076
|
0.39907
|
NM_000153.4(GALC):c.984G>A (p.Gln328=)
|
rs12888666
|
0.29819
|
NM_000153.4(GALC):c.42G>C (p.Ala14=)
|
rs112992946
|
0.11300
|
NM_000153.4(GALC):c.61G>C (p.Ala21Pro)
|
rs111887056
|
0.11296
|
NM_000153.4(GALC):c.75C>A (p.Gly25=)
|
rs111976362
|
0.11287
|
NM_000153.4(GALC):c.330C>T (p.Asp110=)
|
rs11552556
|
0.03162
|
NM_000153.4(GALC):c.397T>C (p.Leu133=)
|
rs56194647
|
0.02565
|
NM_000153.4(GALC):c.1072C>T (p.Leu358=)
|
rs74073730
|
0.01792
|
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.-66G>T
|
rs146439771
|
0.00434
|
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.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000153.4(GALC):c.-318T>C
|
rs556647825
|
0.00210
|
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.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.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.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000153.4(GALC):c.1629C>T (p.Ala543=)
|
rs201055535
|
0.00015
|
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.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)
|
rs371523347
|
0.00006
|
NM_000153.4(GALC):c.-63C>G
|
rs1055562642
|
0.00004
|
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)
|
rs540808138
|
0.00004
|
NM_000153.4(GALC):c.226G>A (p.Glu76Lys)
|
rs778447883
|
0.00004
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
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.788C>G (p.Ala263Gly)
|
rs1292976689
|
0.00003
|
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.583-4G>T
|
rs751820306
|
0.00002
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)
|
rs373077659
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys)
|
rs757407613
|
0.00001
|
NM_000153.4(GALC):c.108G>A (p.Leu36=)
|
rs923261706
|
0.00001
|
NM_000153.4(GALC):c.114G>T (p.Ala38=)
|
rs749514611
|
0.00001
|
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr)
|
rs569569879
|
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.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
|
rs753164684
|
0.00001
|
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)
|
rs748573754
|
0.00001
|
NM_000153.4(GALC):c.1752A>G (p.Lys584=)
|
rs201016488
|
0.00001
|
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)
|
rs779864190
|
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.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys)
|
rs367958957
|
0.00001
|
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)
|
rs756690487
|
0.00001
|
NM_000153.4(GALC):c.379C>T (p.Arg127Ter)
|
rs200532368
|
0.00001
|
NM_000153.4(GALC):c.583-6T>A
|
rs398123176
|
0.00001
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
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.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000153.4(GALC):c.949T>A (p.Leu317Met)
|
rs766071179
|
0.00001
|
NM_000153.4(GALC):c.970T>C (p.Leu324=)
|
rs1194954694
|
0.00001
|
NM_000153.4(GALC):c.-287G>A
|
rs73312836
|
|
NM_000153.4(GALC):c.-68C>T
|
rs369469562
|
|
NM_000153.4(GALC):c.-80_-75delATCAGC
|
rs564526560
|
|
NM_000153.4(GALC):c.1033+1G>A
|
rs2139996044
|
|
NM_000153.4(GALC):c.1083dup (p.Gly362fs)
|
rs767236077
|
|
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.1158_1161+6del
|
rs759068540
|
|
NM_000153.4(GALC):c.1161+1del
|
rs1555381417
|
|
NM_000153.4(GALC):c.1161+9T>C
|
rs1885891419
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.117C>G (p.Pro39=)
|
rs962360205
|
|
NM_000153.4(GALC):c.1335_1336del (p.Trp446fs)
|
rs1885229622
|
|
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.1392C>A (p.Phe464Leu)
|
rs1313792705
|
|
NM_000153.4(GALC):c.1472del (p.Lys491fs)
|
rs771489305
|
|
NM_000153.4(GALC):c.1490-7T>A
|
rs1885047183
|
|
NM_000153.4(GALC):c.1490-8C>G
|
rs1362723313
|
|
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)
|
rs1289015582
|
|
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
|
rs746189262
|
|
NM_000153.4(GALC):c.1884del (p.Lys628fs)
|
rs1336726861
|
|
NM_000153.4(GALC):c.264+1G>A
|
rs1458925593
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)
|
rs745620101
|
|
NM_000153.4(GALC):c.516C>T (p.Ala172=)
|
rs1248283732
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.597G>T (p.Arg199Ser)
|
rs1886780825
|
|
NM_000153.4(GALC):c.621G>A (p.Lys207=)
|
rs1428763453
|
|
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)
|
rs766310671
|
|
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
|
rs372285275
|
|
NM_000153.4(GALC):c.65G>C (p.Gly22Ala)
|
rs372285275
|
|
NM_000153.4(GALC):c.678T>C (p.Ser226=)
|
rs1595226323
|
|
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)
|
rs1886495923
|
|
NM_000153.4(GALC):c.909-3del
|
rs1212915595
|
|