NM_000153.4(GALC):c.1670+204T>C
|
rs430536
|
0.97273
|
NM_000153.4(GALC):c.1162-152G>A
|
rs443019
|
0.95942
|
NM_000153.4(GALC):c.1698A>T (p.Val566=)
|
rs421466
|
0.95773
|
NM_000153.4(GALC):c.1912-220T>G
|
rs390474
|
0.95773
|
NM_000153.4(GALC):c.1162-69G>A
|
rs431748
|
0.95607
|
NM_000153.4(GALC):c.1251+150C>T
|
rs417521
|
0.95597
|
NM_000153.4(GALC):c.1252-166G>A
|
rs451073
|
0.95595
|
NM_000153.4(GALC):c.1162-197T>C
|
rs428542
|
0.95592
|
NM_000153.4(GALC):c.908+270T>A
|
rs397644
|
0.95591
|
NM_000153.4(GALC):c.1252-115T>C
|
rs440426
|
0.95582
|
NM_000153.4(GALC):c.1834+5C>G
|
rs448805
|
0.95475
|
NM_000153.4(GALC):c.1912-170C>T
|
rs433764
|
0.95467
|
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala)
|
rs421262
|
0.95462
|
NM_000153.4(GALC):c.1670+94A>G
|
rs444902
|
0.95460
|
NM_000153.4(GALC):c.1835-79A>G
|
rs417276
|
0.95459
|
NM_000153.4(GALC):c.1671-319A>G
|
rs367125
|
0.95457
|
NM_000153.4(GALC):c.1339-61C>T
|
rs398343
|
0.95455
|
NM_000153.4(GALC):c.196-43C>T
|
rs2289511
|
0.59150
|
NM_000153.4(GALC):c.1670+60C>T
|
rs366615
|
0.49953
|
NM_000153.4(GALC):c.1912-221C>T
|
rs434541
|
0.49949
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_000153.4(GALC):c.1671-162A>G
|
rs381069
|
0.46023
|
NM_000153.4(GALC):c.1490-233C>T
|
rs3910682
|
0.45538
|
NM_000153.4(GALC):c.1338+159C>T
|
rs3213917
|
0.45220
|
NM_000153.4(GALC):c.1671-15C>T
|
rs12432149
|
0.45011
|
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_000153.4(GALC):c.1338+172C>T
|
rs3213916
|
0.30746
|
NM_000153.4(GALC):c.264+108G>A
|
rs2245387
|
0.30074
|
NM_000153.4(GALC):c.329-240T>C
|
rs2165567
|
0.29858
|
NM_000153.4(GALC):c.984G>A (p.Gln328=)
|
rs12888666
|
0.29819
|
NM_000153.4(GALC):c.329-332A>C
|
rs2119702
|
0.28381
|
NM_000153.4(GALC):c.622-284C>T
|
rs112469201
|
0.12081
|
NM_000153.4(GALC):c.328+19T>A
|
rs74337989
|
0.12002
|
NM_000153.4(GALC):c.1034-125G>C
|
rs17760374
|
0.11466
|
NM_000153.4(GALC):c.443-51G>A
|
rs77468347
|
0.11443
|
NM_000153.4(GALC):c.622-273G>A
|
rs148708614
|
0.11438
|
NM_000153.4(GALC):c.753-59C>T
|
rs17687364
|
0.11436
|
NM_000153.4(GALC):c.908+122G>A
|
rs10483988
|
0.11435
|
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.583-288G>A
|
rs74563284
|
0.11425
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_000153.4(GALC):c.1033+145A>G
|
rs17760463
|
0.11423
|
NM_000153.4(GALC):c.1161+301C>T
|
rs3906822
|
0.11421
|
NM_000153.4(GALC):c.621+24T>C
|
rs45568734
|
0.11420
|
NM_000153.4(GALC):c.1034-270A>G
|
rs78508589
|
0.11417
|
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.1034-314A>G
|
rs17687144
|
0.11413
|
NM_000153.4(GALC):c.622-175C>T
|
rs111931900
|
0.11402
|
NM_000153.4(GALC):c.622-162del
|
rs112016425
|
0.11400
|
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.195+164G>A
|
rs78727833
|
0.11288
|
NM_000153.4(GALC):c.75C>A (p.Gly25=)
|
rs111976362
|
0.11287
|
NM_000153.2(GALC):c.-148T>C
|
rs76999174
|
0.11247
|
NM_000153.4(GALC):c.1835-204C>G
|
rs112634971
|
0.09818
|
NM_000153.4(GALC):c.1489+187G>T
|
rs17123925
|
0.09033
|
NM_000153.4(GALC):c.1339-79A>G
|
rs60797274
|
0.07821
|
NM_000153.4(GALC):c.909-193A>G
|
rs72692072
|
0.03916
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078
|
0.03877
|
NM_000153.4(GALC):c.1338+260G>A
|
rs7161703
|
0.03704
|
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.328+44A>G
|
rs73312826
|
0.02319
|
NM_000153.4(GALC):c.1671-155T>G
|
rs74073881
|
0.01821
|
NM_000153.4(GALC):c.1338+23T>C
|
rs74076317
|
0.01816
|
NM_000153.4(GALC):c.1161+240T>G
|
rs74073729
|
0.01799
|
NM_000153.4(GALC):c.1072C>T (p.Leu358=)
|
rs74073730
|
0.01792
|
NM_000153.4(GALC):c.622-325C>T
|
rs146803770
|
0.01675
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
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.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
GRCh37/hg19 14q31.3(chr14:88382306-88419358)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88399247-88420282)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88399488-88422442)x1
|
|
|
NM_000153.3(GALC):c.1834+22dup
|
rs34752717
|
|
NM_000153.4(GALC):c.-287G>A
|
rs73312836
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1686A>T (p.Ile562=)
|
rs2139941725
|
|
NM_000153.4(GALC):c.1912-238T>C
|
rs79558046
|
|
NM_000153.4(GALC):c.196-201del
|
rs112118889
|
|
NM_000153.4(GALC):c.196-3del
|
rs561184126
|
|
NM_000153.4(GALC):c.582+241_582+242dup
|
rs36113094
|
|
NM_000153.4(GALC):c.582+241dup
|
rs36113094
|
|
NM_000153.4(GALC):c.582+256_582+258del
|
rs36113094
|
|
NM_000153.4(GALC):c.582+258del
|
rs36113094
|
|
NM_000153.4(GALC):c.583-108G>A
|
rs17797993
|
|
NM_000153.4(GALC):c.583-108G>T
|
rs17797993
|
|
NM_000153.4(GALC):c.622-137CAAA[4]
|
rs146880216
|
|
NM_000153.4(GALC):c.753-5dup
|
rs533067313
|
|