NM_000153.4(GALC):c.1698A>T (p.Val566=)
|
rs421466
|
0.95773
|
NM_000153.4(GALC):c.1834+5C>G
|
rs448805
|
0.95475
|
NM_000153.4(GALC):c.*989G>A
|
rs370559
|
0.95463
|
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)
|
rs421262
|
0.95462
|
NM_000153.4(GALC):c.*627A>G
|
rs413750
|
0.95456
|
NM_000153.4(GALC):c.*723G>A
|
rs412915
|
0.49978
|
NM_000153.4(GALC):c.*626C>T
|
rs432946
|
0.49976
|
NM_000153.4(GALC):c.*1453A>G
|
rs405567
|
0.49973
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_000153.4(GALC):c.*590T>C
|
rs1042029
|
0.45472
|
NM_000153.4(GALC):c.*1186_*1188del
|
rs141199615
|
0.45391
|
NM_000153.4(GALC):c.*1275G>A
|
rs1042042
|
0.45032
|
NM_000153.4(GALC):c.1671-15C>T
|
rs12432149
|
0.45011
|
NM_000153.4(GALC):c.*1588T>G
|
rs17198
|
0.44979
|
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.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
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.*1126G>A
|
rs1042035
|
0.11091
|
NM_000153.4(GALC):c.*709A>C
|
rs45572135
|
0.05219
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078
|
0.03877
|
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.*801A>T
|
rs114174103
|
0.01526
|
NM_000153.4(GALC):c.*395C>T
|
rs3850376
|
0.00770
|
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.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_000153.4(GALC):c.913A>G (p.Ile305Val)
|
rs74887188
|
0.00270
|
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.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
NM_000153.4(GALC):c.*1451C>A
|
rs138919458
|
0.00054
|
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.708C>T (p.Ser236=)
|
rs773666802
|
0.00017
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
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.*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.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
NM_000153.4(GALC):c.53C>T (p.Thr18Ile)
|
rs755139799
|
0.00006
|
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile)
|
rs557464603
|
0.00004
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000153.4(GALC):c.434C>T (p.Thr145Ile)
|
rs781281519
|
0.00003
|
NM_000153.4(GALC):c.1671-1G>A
|
rs1182103005
|
0.00002
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
0.00002
|
NM_000153.3(GALC):c.-21C>T
|
rs768255795
|
0.00001
|
NM_000153.4(GALC):c.-17G>A
|
rs886050868
|
0.00001
|
NM_000153.4(GALC):c.1418G>A (p.Arg473His)
|
rs374868151
|
0.00001
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
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.749T>C (p.Ile250Thr)
|
rs886039569
|
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_000153.3(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.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1162-4dup
|
rs11300320
|
|
NM_000153.4(GALC):c.1376A>G (p.His459Arg)
|
rs755193670
|
|
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala)
|
rs886050864
|
|
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser)
|
rs756141815
|
|
NM_000153.4(GALC):c.313G>A (p.Asp105Asn)
|
rs1361755363
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.3G>T (p.Met1Ile)
|
rs758685128
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4(GALC):c.442+4A>G
|
rs753169234
|
|
NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
|
|
|
NM_000153.4(GALC):c.583-11T>C
|
rs886050865
|
|
NM_000153.4(GALC):c.64G>C (p.Gly22Arg)
|
rs768031195
|
|
NM_000153.4(GALC):c.752+8A>C
|
rs750292340
|
|