NM_000153.4(GALC):c.1339-221T>A
|
rs73329338
|
0.01442
|
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.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.-318T>C
|
rs556647825
|
0.00210
|
NM_000153.4(GALC):c.909-40A>G
|
rs199667484
|
0.00208
|
NM_000153.4(GALC):c.1632T>C (p.Asp544=)
|
rs9672064
|
0.00196
|
NM_000153.4(GALC):c.1161+66C>T
|
rs59068116
|
0.00028
|
NM_000153.4(GALC):c.60C>T (p.Ala20=)
|
rs188488238
|
0.00013
|
NM_000153.4(GALC):c.1034-62del
|
rs201562753
|
|
NM_000153.4(GALC):c.1034-72dup
|
rs201562753
|
|
NM_000153.4(GALC):c.1161+248del
|
rs143103231
|
|
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
|
|