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.*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.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
NM_000153.4(GALC):c.913A>G (p.Ile305Val)
|
rs74887188
|
0.00270
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|