NM_000153.4(GALC):c.1339-221T>A
|
rs73329338
|
0.01442
|
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.908+229G>A
|
rs189788968
|
0.00658
|
NM_000153.4(GALC):c.621+94G>T
|
rs149814143
|
0.00649
|
NM_000153.4(GALC):c.582+240_582+242dup
|
rs1259652443
|
0.00577
|
NM_000153.4(GALC):c.1489+134G>A
|
rs17123928
|
0.00531
|
NM_000153.4(GALC):c.1489+133C>T
|
rs116056744
|
0.00484
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_000153.4(GALC):c.1490-245C>G
|
rs141431914
|
0.00483
|
NM_000153.4(GALC):c.1490-205A>G
|
rs115987290
|
0.00482
|
NM_000153.4(GALC):c.622-166C>T
|
rs527451288
|
0.00448
|
NM_000153.4(GALC):c.622-167G>C
|
rs547582334
|
0.00436
|
NM_000153.4(GALC):c.-66G>T
|
rs146439771
|
0.00434
|
NM_000153.4(GALC):c.582+209G>T
|
rs113631096
|
0.00331
|
NM_000153.4(GALC):c.1162-33A>G
|
rs113021000
|
0.00322
|
NM_000153.4(GALC):c.1236T>A (p.Val412=)
|
rs112531377
|
0.00321
|
NM_000153.4(GALC):c.1033+134G>T
|
rs111872618
|
0.00320
|
NM_000153.4(GALC):c.1834+23A>T
|
rs367926377
|
0.00302
|
NM_000153.4(GALC):c.1251+47A>G
|
rs148098570
|
0.00300
|
NM_000153.4(GALC):c.443-189G>A
|
rs190926611
|
0.00300
|
NM_000153.4(GALC):c.442+36T>G
|
rs140065772
|
0.00299
|
NM_000153.4(GALC):c.1670+19A>T
|
rs141839955
|
0.00298
|
NM_000153.4(GALC):c.-463C>T
|
rs181956126
|
0.00254
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000153.4(GALC):c.1862G>A (p.Arg621His)
|
rs192911803
|
0.00224
|
NM_000153.4(GALC):c.-318T>C
|
rs556647825
|
0.00210
|
NM_000153.4(GALC):c.909-40A>G
|
rs199667484
|
0.00208
|
NM_000153.4(GALC):c.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_000153.4(GALC):c.1632T>C (p.Asp544=)
|
rs9672064
|
0.00196
|
NM_000153.4(GALC):c.-327G>T
|
rs185943390
|
0.00120
|
NM_000153.4(GALC):c.1434G>A (p.Pro478=)
|
rs200231860
|
0.00042
|
NM_000153.4(GALC):c.1161+66C>T
|
rs59068116
|
0.00028
|
NM_000153.4(GALC):c.1272G>A (p.Gln424=)
|
rs376675180
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000153.2(GALC):c.-285G>A
|
rs557653194
|
0.00016
|
NM_000153.4(GALC):c.60C>T (p.Ala20=)
|
rs188488238
|
0.00013
|
NM_000153.4(GALC):c.328+6A>G
|
rs201977747
|
0.00011
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
NM_000153.4(GALC):c.639G>C (p.Leu213=)
|
rs373343608
|
0.00004
|
NM_000153.4(GALC):c.1791C>T (p.Phe597=)
|
rs1002946173
|
0.00003
|
NM_000153.4(GALC):c.1587G>A (p.Thr529=)
|
rs184748969
|
0.00002
|
NM_000153.4(GALC):c.1005C>T (p.Tyr335=)
|
rs1319599087
|
0.00001
|
NM_000153.4(GALC):c.1251T>C (p.Phe417=)
|
rs200605515
|
0.00001
|
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
|
rs753164684
|
0.00001
|
NM_000153.2(GALC):c.-237G>A
|
|
|
NM_000153.3(GALC):c.1834+22dup
|
rs34752717
|
|
NM_000153.4(GALC):c.1034-62del
|
rs201562753
|
|
NM_000153.4(GALC):c.1034-72dup
|
rs201562753
|
|
NM_000153.4(GALC):c.1131A>G (p.Leu377=)
|
rs2139991961
|
|
NM_000153.4(GALC):c.1161+248del
|
rs143103231
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1302C>G (p.Ser434=)
|
|
|
NM_000153.4(GALC):c.1698A>G (p.Val566=)
|
rs421466
|
|
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
|
rs746189262
|
|
NM_000153.4(GALC):c.196-4_196-3del
|
rs561184126
|
|
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.443-127_443-123del
|
rs140138159
|
|
NM_000153.4(GALC):c.582+241_582+243dup
|
rs36113094
|
|
NM_000153.4(GALC):c.69G>T (p.Ser23=)
|
rs763851570
|
|
NM_000153.4(GALC):c.789A>G (p.Ala263=)
|
rs1886147283
|
|