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.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.1006G>A (p.Val336Met)
|
rs185073540
|
0.00368
|
NM_000153.4(GALC):c.582+209G>T
|
rs113631096
|
0.00331
|
NM_000153.4(GALC):c.96G>T (p.Leu32=)
|
rs113719127
|
0.00324
|
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.913A>G (p.Ile305Val)
|
rs74887188
|
0.00270
|
NM_000153.4(GALC):c.-463C>T
|
rs181956126
|
0.00254
|
NM_000153.4(GALC):c.997G>A (p.Gly333Arg)
|
rs190921137
|
0.00248
|
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.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_000153.2(GALC):c.-223C>T
|
rs181004720
|
0.00076
|
NM_000153.4(GALC):c.-67T>G
|
rs571945132
|
0.00070
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
NM_000153.4(GALC):c.1434G>A (p.Pro478=)
|
rs200231860
|
0.00042
|
NM_000153.4(GALC):c.235C>T (p.Arg79Cys)
|
rs73312829
|
0.00041
|
NM_000153.4(GALC):c.49A>G (p.Met17Val)
|
rs376662045
|
0.00029
|
NM_000153.4(GALC):c.1161+66C>T
|
rs59068116
|
0.00028
|
NM_000153.4(GALC):c.1717A>G (p.Thr573Ala)
|
rs200219480
|
0.00023
|
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_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000153.2(GALC):c.-285G>A
|
rs557653194
|
0.00016
|
NM_000153.4(GALC):c.266C>T (p.Pro89Leu)
|
rs201422931
|
0.00014
|
NM_000153.4(GALC):c.1567C>A (p.Pro523Thr)
|
rs370952794
|
0.00013
|
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.1042A>T (p.Thr348Ser)
|
rs200516260
|
0.00009
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_000153.4(GALC):c.1803A>G (p.Ala601=)
|
rs372465848
|
0.00009
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_000153.4(GALC):c.18C>G (p.Leu6=)
|
rs886038260
|
0.00006
|
NM_000153.4(GALC):c.206G>A (p.Arg69Gln)
|
rs371523347
|
0.00006
|
NM_000153.4(GALC):c.53C>T (p.Thr18Ile)
|
rs755139799
|
0.00006
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn)
|
rs540808138
|
0.00004
|
NM_000153.4(GALC):c.1861C>T (p.Arg621Cys)
|
rs755930402
|
0.00004
|
NM_000153.4(GALC):c.196-9T>C
|
rs776907825
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
0.00004
|
NM_000153.4(GALC):c.226G>A (p.Glu76Lys)
|
rs778447883
|
0.00004
|
NM_000153.4(GALC):c.332G>A (p.Gly111Asp)
|
rs746487628
|
0.00004
|
NM_000153.4(GALC):c.500A>G (p.Asn167Ser)
|
rs768993170
|
0.00004
|
NM_000153.4(GALC):c.639G>C (p.Leu213=)
|
rs373343608
|
0.00004
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000153.4(GALC):c.1791C>T (p.Phe597=)
|
rs1002946173
|
0.00003
|
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)
|
rs374635469
|
0.00003
|
NM_000153.4(GALC):c.788C>G (p.Ala263Gly)
|
rs1292976689
|
0.00003
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)
|
rs780750448
|
0.00003
|
NM_000153.4(GALC):c.1587G>A (p.Thr529=)
|
rs184748969
|
0.00002
|
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
NM_000153.4(GALC):c.1934T>G (p.Leu645Arg)
|
rs780593419
|
0.00002
|
NM_000153.4(GALC):c.391T>C (p.Trp131Arg)
|
rs746507078
|
0.00002
|
NM_000153.4(GALC):c.430del (p.Ile144fs)
|
rs775277935
|
0.00002
|
NM_000153.4(GALC):c.448C>T (p.Pro150Ser)
|
rs372568602
|
0.00002
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000153.4(GALC):c.909-10A>G
|
rs398123178
|
0.00002
|
NM_000153.4(GALC):c.1004A>G (p.Tyr335Cys)
|
rs757407613
|
0.00001
|
NM_000153.4(GALC):c.1005C>T (p.Tyr335=)
|
rs1319599087
|
0.00001
|
NM_000153.4(GALC):c.1027G>T (p.Val343Leu)
|
rs753217734
|
0.00001
|
NM_000153.4(GALC):c.118G>A (p.Gly40Ser)
|
rs780050514
|
0.00001
|
NM_000153.4(GALC):c.1251T>C (p.Phe417=)
|
rs200605515
|
0.00001
|
NM_000153.4(GALC):c.1418G>A (p.Arg473His)
|
rs374868151
|
0.00001
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
|
rs753164684
|
0.00001
|
NM_000153.4(GALC):c.1591C>T (p.Arg531Cys)
|
rs749893889
|
0.00001
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg)
|
rs748573754
|
0.00001
|
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)
|
rs779864190
|
0.00001
|
NM_000153.4(GALC):c.1896C>G (p.Leu632=)
|
rs1884764241
|
0.00001
|
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser)
|
rs769851272
|
0.00001
|
NM_000153.4(GALC):c.1913G>T (p.Gly638Val)
|
rs1162671660
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000153.4(GALC):c.1997T>C (p.Ile666Thr)
|
rs1461381844
|
0.00001
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)
|
rs1555383882
|
0.00001
|
NM_000153.4(GALC):c.287A>G (p.His96Arg)
|
rs748593957
|
0.00001
|
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)
|
rs756690487
|
0.00001
|
NM_000153.4(GALC):c.379C>T (p.Arg127Ter)
|
rs200532368
|
0.00001
|
NM_000153.4(GALC):c.428A>G (p.Asn143Ser)
|
rs753623482
|
0.00001
|
NM_000153.4(GALC):c.461C>A (p.Pro154His)
|
rs758557526
|
0.00001
|
NM_000153.4(GALC):c.486C>A (p.Asp162Glu)
|
rs767286511
|
0.00001
|
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)
|
rs761550284
|
0.00001
|
NM_000153.4(GALC):c.582+1G>A
|
rs750881596
|
0.00001
|
NM_000153.4(GALC):c.583-6T>A
|
rs398123176
|
0.00001
|
NM_000153.4(GALC):c.592G>A (p.Glu198Lys)
|
rs909979938
|
0.00001
|
NM_000153.4(GALC):c.622-1G>T
|
rs1886499951
|
0.00001
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
0.00001
|
NM_000153.4(GALC):c.787G>A (p.Ala263Thr)
|
rs1308816724
|
0.00001
|
NM_000153.4(GALC):c.908+1G>A
|
rs750524447
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000153.4(GALC):c.982C>T (p.Gln328Ter)
|
rs1337518083
|
0.00001
|
GRCh37/hg19 14q31.3(chr14:88382306-88419358)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88398357-88422853)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88398406-88422853)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88398407-88422569)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88399247-88419358)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88399247-88420282)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88399488-88422442)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88400285-88422569)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88401076-88417092)x1
|
|
|
NM_000153.2(GALC):c.-237G>A
|
|
|
NM_000153.3(GALC):c.1834+22dup
|
rs34752717
|
|
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs)
|
rs886043419
|
|
NM_000153.4(GALC):c.-287G>A
|
rs73312836
|
|
NM_000153.4(GALC):c.-80_-75delATCAGC
|
rs564526560
|
|
NM_000153.4(GALC):c.1021del (p.Val341fs)
|
rs1057517382
|
|
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter)
|
rs1555381559
|
|
NM_000153.4(GALC):c.1034-62del
|
rs201562753
|
|
NM_000153.4(GALC):c.1034-72dup
|
rs201562753
|
|
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs)
|
rs1555381439
|
|
NM_000153.4(GALC):c.1083dup (p.Gly362fs)
|
rs767236077
|
|
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)
|
rs1885895082
|
|
NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser)
|
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
NM_000153.4(GALC):c.1131A>G (p.Leu377=)
|
rs2139991961
|
|
NM_000153.4(GALC):c.1158_1161+6del
|
rs759068540
|
|
NM_000153.4(GALC):c.1161+248del
|
rs143103231
|
|
NM_000153.4(GALC):c.1161+2T>G
|
rs398123175
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs)
|
rs1885269233
|
|
NM_000153.4(GALC):c.1302C>G (p.Ser434=)
|
|
|
NM_000153.4(GALC):c.1338G>C (p.Trp446Cys)
|
rs2139961409
|
|
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp)
|
rs1057520151
|
|
NM_000153.4(GALC):c.1399dup (p.Thr467fs)
|
rs1057518390
|
|
NM_000153.4(GALC):c.1450C>T (p.Gln484Ter)
|
|
|
NM_000153.4(GALC):c.1459C>T (p.Pro487Ser)
|
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1468T>G (p.Tyr490Asp)
|
|
|
NM_000153.4(GALC):c.1472del (p.Lys491fs)
|
rs771489305
|
|
NM_000153.4(GALC):c.1488_1489+2del
|
rs1555379355
|
|
NM_000153.4(GALC):c.1531del (p.Thr511fs)
|
rs2139951585
|
|
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)
|
rs794727116
|
|
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)
|
rs1289015582
|
|
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter)
|
rs1566972341
|
|
NM_000153.4(GALC):c.1686A>T (p.Ile562=)
|
rs2139941725
|
|
NM_000153.4(GALC):c.1698A>G (p.Val566=)
|
rs421466
|
|
NM_000153.4(GALC):c.16C>T (p.Leu6Phe)
|
|
|
NM_000153.4(GALC):c.1736C>A (p.Ala579Glu)
|
rs1423625765
|
|
NM_000153.4(GALC):c.1736_1739del (p.Ala579fs)
|
rs754668472
|
|
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
|
|
|
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
|
rs746189262
|
|
NM_000153.4(GALC):c.1835C>T (p.Ala612Val)
|
|
|
NM_000153.4(GALC):c.1842G>A (p.Trp614Ter)
|
rs1884767890
|
|
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs)
|
rs1884764754
|
|
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu)
|
rs1566967736
|
|
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)
|
rs1057516453
|
|
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)
|
rs749708827
|
|
NM_000153.4(GALC):c.1897dup (p.Thr633fs)
|
rs1555378538
|
|
NM_000153.4(GALC):c.1912-238T>C
|
rs79558046
|
|
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)
|
rs1884501856
|
|
NM_000153.4(GALC):c.196-201del
|
rs112118889
|
|
NM_000153.4(GALC):c.196-3del
|
rs561184126
|
|
NM_000153.4(GALC):c.196-4_196-3del
|
rs561184126
|
|
NM_000153.4(GALC):c.1999G>A (p.Gly667Arg)
|
|
|
NM_000153.4(GALC):c.2003C>T (p.Thr668Ile)
|
|
|
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs)
|
rs2139925505
|
|
NM_000153.4(GALC):c.2037_2040del (p.Phe679fs)
|
rs754507781
|
|
NM_000153.4(GALC):c.2037dup (p.Leu680fs)
|
rs2139925538
|
|
NM_000153.4(GALC):c.2039T>C (p.Leu680Pro)
|
|
|
NM_000153.4(GALC):c.2053C>T (p.Arg685Cys)
|
|
|
NM_000153.4(GALC):c.236G>A (p.Arg79His)
|
|
|
NM_000153.4(GALC):c.293dup (p.Leu98fs)
|
rs757799254
|
|
NM_000153.4(GALC):c.298G>A (p.Val100Met)
|
|
|
NM_000153.4(GALC):c.308G>T (p.Gly103Val)
|
rs1567014169
|
|
NM_000153.4(GALC):c.328+3A>G
|
rs377682096
|
|
NM_000153.4(GALC):c.328G>A (p.Asp110Asn)
|
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.349A>C (p.Met117Leu)
|
rs145580093
|
|
NM_000153.4(GALC):c.365A>G (p.Asp122Gly)
|
|
|
NM_000153.4(GALC):c.398TGA[1] (p.Met134del)
|
rs1886979623
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
NM_000153.4(GALC):c.443-127_443-123del
|
rs140138159
|
|
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)
|
rs745620101
|
|
NM_000153.4(GALC):c.479G>C (p.Gly160Ala)
|
|
|
NM_000153.4(GALC):c.49A>C (p.Met17Leu)
|
rs376662045
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.582+241_582+242dup
|
rs36113094
|
|
NM_000153.4(GALC):c.582+241_582+243dup
|
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.606T>G (p.Asn202Lys)
|
|
|
NM_000153.4(GALC):c.621+6T>C
|
|
|
NM_000153.4(GALC):c.621G>A (p.Lys207=)
|
rs1428763453
|
|
NM_000153.4(GALC):c.622-137CAAA[4]
|
rs146880216
|
|
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)
|
rs766310671
|
|
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
|
rs372285275
|
|
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)
|
rs1886495923
|
|
NM_000153.4(GALC):c.69G>T (p.Ser23=)
|
rs763851570
|
|
NM_000153.4(GALC):c.709A>G (p.Met237Val)
|
|
|
NM_000153.4(GALC):c.718G>A (p.Asp240Asn)
|
rs2140016138
|
|
NM_000153.4(GALC):c.753-5dup
|
rs533067313
|
|
NM_000153.4(GALC):c.764C>G (p.Pro255Arg)
|
rs1886148366
|
|
NM_000153.4(GALC):c.789A>G (p.Ala263=)
|
rs1886147283
|
|
NM_000153.4(GALC):c.832A>C (p.Thr278Pro)
|
rs886042645
|
|
NM_000153.4(GALC):c.847A>G (p.Met283Val)
|
rs2140001597
|
|
NM_000153.4(GALC):c.862T>C (p.Trp288Arg)
|
rs398123177
|
|
NM_000153.4(GALC):c.943del (p.Glu315fs)
|
rs1886008578
|
|
NM_000153.4(GALC):c.952C>G (p.Pro318Ala)
|
rs1057516642
|
|
NM_000153.4(GALC):c.955del (p.Tyr319fs)
|
rs786204454
|
|
NM_000153.4(GALC):c.973A>G (p.Met325Val)
|
rs772190761
|
|
NM_000153.4(GALC):c.977C>T (p.Thr326Met)
|
|
|
NM_000153.4(GALC):c.991T>C (p.Trp331Arg)
|
rs2139996182
|
|