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.1251+150C>T
|
rs417521
|
0.95597
|
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.1835-79A>G
|
rs417276
|
0.95459
|
NM_000153.4(GALC):c.*627A>G
|
rs413750
|
0.95456
|
NM_000153.4(GALC):c.1339-61C>T
|
rs398343
|
0.95455
|
NM_022124.6(CDH23):c.*349A>G
|
rs1867978
|
0.77194
|
NM_000153.4(GALC):c.196-43C>T
|
rs2289511
|
0.59150
|
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.1670+60C>T
|
rs366615
|
0.49953
|
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.1911+122C>G
|
rs45567441
|
0.44852
|
NM_000153.4(GALC):c.1911+129G>A
|
rs45626938
|
0.44823
|
NM_000153.4(GALC):c.1350C>T (p.Ser450=)
|
rs398076
|
0.39907
|
NM_002778.4(PSAP):c.1432-22C>T
|
rs885828
|
0.34727
|
NM_002778.4(PSAP):c.1351-14A>G
|
rs4747203
|
0.34512
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869
|
0.34207
|
NM_000153.4(GALC):c.264+108G>A
|
rs2245387
|
0.30074
|
NM_000153.4(GALC):c.984G>A (p.Gln328=)
|
rs12888666
|
0.29819
|
NM_002778.4(PSAP):c.1431+116C>T
|
rs749823
|
0.20609
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_022124.6(CDH23):c.*204A>G
|
rs2290022
|
0.13799
|
NM_002778.4(PSAP):c.1540-34C>T
|
rs4747202
|
0.13788
|
NM_002778.4(PSAP):c.1005+18C>T
|
rs55829339
|
0.13764
|
NM_000153.4(GALC):c.195+34G>T
|
rs143228205
|
0.13486
|
NM_002778.4(PSAP):c.-4C>T
|
rs2070188
|
0.12811
|
NM_000153.4(GALC):c.328+19T>A
|
rs74337989
|
0.12002
|
NM_000153.4(GALC):c.753-59C>T
|
rs17687364
|
0.11436
|
NM_000153.4(GALC):c.196-70G>A
|
rs74689143
|
0.11432
|
NM_000153.4(GALC):c.583-56G>A
|
rs79515863
|
0.11428
|
NM_000153.4(GALC):c.582+99C>T
|
rs17798011
|
0.11427
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_000153.4(GALC):c.621+24T>C
|
rs45568734
|
0.11420
|
NM_000153.4(GALC):c.1161+38T>C
|
rs17687109
|
0.11416
|
NM_000153.4(GALC):c.621+63T>A
|
rs17797987
|
0.11416
|
NM_000153.4(GALC):c.621+98T>C
|
rs17797981
|
0.11415
|
NM_000153.4(GALC):c.752+56T>C
|
rs76521220
|
0.11410
|
NM_000153.4(GALC):c.329-35G>A
|
rs77466023
|
0.11380
|
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_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635
|
0.07812
|
NM_002778.4(PSAP):c.909+32G>T
|
rs41307569
|
0.06451
|
NM_000153.4(GALC):c.*709A>C
|
rs45572135
|
0.05219
|
NM_000153.4(GALC):c.1620= (p.Thr540=)
|
rs367327
|
0.04389
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
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_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.02056
|
NM_000153.4(GALC):c.1072C>T (p.Leu358=)
|
rs74073730
|
0.01792
|
NM_002778.4(PSAP):c.*775G>A
|
rs79662404
|
0.01440
|
NM_002778.4(PSAP):c.-10A>G
|
rs76455588
|
0.01197
|
NM_002778.4(PSAP):c.78C>T (p.Thr26=)
|
rs74145688
|
0.00850
|
NM_002778.4(PSAP):c.1452G>A (p.Ser484=)
|
rs114389264
|
0.00778
|
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.195+10A>G
|
rs191767015
|
0.00653
|
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.1236T>A (p.Val412=)
|
rs112531377
|
0.00321
|
NM_000153.4(GALC):c.1670+19A>T
|
rs141839955
|
0.00298
|
NM_002778.4(PSAP):c.1380C>T (p.Pro460=)
|
rs1049882
|
0.00284
|
NM_000153.4(GALC):c.913A>G (p.Ile305Val)
|
rs74887188
|
0.00270
|
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.525C>T (p.Val175=)
|
rs181066089
|
0.00199
|
NM_000153.4(GALC):c.195+19G>A
|
rs189853941
|
0.00198
|
NM_000153.4(GALC):c.1632T>C (p.Asp544=)
|
rs9672064
|
0.00196
|
NM_000153.4(GALC):c.1147A>G (p.Ile383Val)
|
rs199723885
|
0.00036
|
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)
|
rs200219480
|
0.00023
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000153.4(GALC):c.1251+18A>G
|
rs369997150
|
0.00016
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_002778.4(PSAP):c.336C>T (p.Ser112=)
|
rs370977178
|
0.00003
|
NM_000153.4(GALC):c.-287G>A
|
rs73312836
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1162-4dup
|
rs11300320
|
|
NM_000153.4(GALC):c.1339-8dup
|
rs779423756
|
|
NM_000153.4(GALC):c.1671-10dup
|
|
|
NM_000153.4(GALC):c.196-19del
|
|
|
NM_000153.4(GALC):c.196-3del
|
rs561184126
|
|
NM_000153.4(GALC):c.196-3dup
|
rs561184126
|
|
NM_000153.4(GALC):c.196-4_196-3del
|
rs561184126
|
|
NM_000153.4(GALC):c.583-108G>T
|
rs17797993
|
|
NM_000153.4(GALC):c.753-13_753-12dup
|
rs533067313
|
|
NM_000153.4(GALC):c.753-5dup
|
rs533067313
|
|
NM_000153.4(GALC):c.909-3del
|
rs1212915595
|
|
NM_002778.4(PSAP):c.1193-26G>A
|
rs3747860
|
|
NM_002778.4(PSAP):c.570G>T (p.Gln190His)
|
rs142272618
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197
|
|