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.1620A>G (p.Thr540=)
|
rs367327
|
0.95611
|
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.*989G>A
|
rs370559
|
0.95463
|
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.*627A>G
|
rs413750
|
0.95456
|
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.*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.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.*590T>C
|
rs1042029
|
0.45472
|
NM_000153.4(GALC):c.*1186_*1188del
|
rs141199615
|
0.45391
|
NM_000153.4(GALC):c.1338+159C>T
|
rs3213917
|
0.45220
|
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_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.*1126G>A
|
rs1042035
|
0.11091
|
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.*709A>C
|
rs45572135
|
0.05219
|
NM_000153.4(GALC):c.1620= (p.Thr540=)
|
rs367327
|
0.04389
|
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.*801A>T
|
rs114174103
|
0.01526
|
NM_000153.4(GALC):c.1339-221T>A
|
rs73329338
|
0.01442
|
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.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.1489+3G>A
|
rs186664912
|
0.00124
|
NM_000153.4(GALC):c.-327G>T
|
rs185943390
|
0.00120
|
NM_000153.4(GALC):c.530C>A (p.Thr177Asn)
|
rs115869593
|
0.00116
|
NM_000153.4(GALC):c.659G>A (p.Arg220Gln)
|
rs199967869
|
0.00107
|
NM_000153.4(GALC):c.15A>G (p.Leu5=)
|
rs529350155
|
0.00088
|
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.*1451C>A
|
rs138919458
|
0.00054
|
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.1147A>G (p.Ile383Val)
|
rs199723885
|
0.00036
|
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.1573G>A (p.Glu525Lys)
|
rs146286491
|
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_000153.4(GALC):c.708C>T (p.Ser236=)
|
rs773666802
|
0.00017
|
NM_000153.2(GALC):c.-285G>A
|
rs557653194
|
0.00016
|
NM_000153.4(GALC):c.1251+18A>G
|
rs369997150
|
0.00016
|
NM_000153.4(GALC):c.1335A>G (p.Leu445=)
|
rs373277798
|
0.00015
|
NM_000153.4(GALC):c.1629C>T (p.Ala543=)
|
rs201055535
|
0.00015
|
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.2034C>T (p.Asn678=)
|
rs183869279
|
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.82G>A (p.Ala28Thr)
|
rs776663863
|
0.00011
|
NM_000153.4(GALC):c.828T>C (p.Phe276=)
|
rs368679728
|
0.00010
|
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.909-4T>G
|
rs201884281
|
0.00009
|
NM_000153.4(GALC):c.*405A>G
|
rs143839879
|
0.00008
|
NM_000153.4(GALC):c.*1458T>C
|
rs757918900
|
0.00006
|
NM_000153.4(GALC):c.120C>T (p.Gly40=)
|
rs532800656
|
0.00006
|
NM_000153.4(GALC):c.1584C>T (p.Phe528=)
|
rs753565491
|
0.00006
|
NM_000153.4(GALC):c.1731C>T (p.Phe577=)
|
rs201560122
|
0.00006
|
NM_000153.4(GALC):c.1819G>T (p.Val607Phe)
|
rs929215561
|
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.265-2A>G
|
rs199710405
|
0.00006
|
NM_000153.4(GALC):c.53C>T (p.Thr18Ile)
|
rs755139799
|
0.00006
|
NM_000153.4(GALC):c.-63C>G
|
rs1055562642
|
0.00004
|
NM_000153.4(GALC):c.1034-4A>G
|
rs775263627
|
0.00004
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000153.4(GALC):c.1619C>T (p.Thr540Ile)
|
rs557464603
|
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.264+12A>G
|
rs199758464
|
0.00004
|
NM_000153.4(GALC):c.28T>C (p.Trp10Arg)
|
rs767913083
|
0.00004
|
NM_000153.4(GALC):c.329-14T>C
|
rs375242461
|
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.543C>T (p.Gly181=)
|
rs772338291
|
0.00004
|
NM_000153.4(GALC):c.639G>C (p.Leu213=)
|
rs373343608
|
0.00004
|
NM_000153.4(GALC):c.714C>T (p.Leu238=)
|
rs748497197
|
0.00004
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
NM_000153.4(GALC):c.1380A>G (p.Glu460=)
|
rs1370652050
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000153.4(GALC):c.1702A>G (p.Ile568Val)
|
rs371792183
|
0.00003
|
NM_000153.4(GALC):c.1791C>T (p.Phe597=)
|
rs1002946173
|
0.00003
|
NM_000153.4(GALC):c.1946C>T (p.Ser649Phe)
|
rs1158521193
|
0.00003
|
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu)
|
rs779202612
|
0.00003
|
NM_000153.4(GALC):c.23C>T (p.Ala8Val)
|
rs376511103
|
0.00003
|
NM_000153.4(GALC):c.348C>T (p.His116=)
|
rs756456886
|
0.00003
|
NM_000153.4(GALC):c.388G>A (p.Glu130Lys)
|
rs374635469
|
0.00003
|
NM_000153.4(GALC):c.434C>T (p.Thr145Ile)
|
rs781281519
|
0.00003
|
NM_000153.4(GALC):c.459C>T (p.Phe153=)
|
rs774472326
|
0.00003
|
NM_000153.4(GALC):c.462T>C (p.Pro154=)
|
rs748295031
|
0.00003
|
NM_000153.4(GALC):c.537T>C (p.Ile179=)
|
rs776341276
|
0.00003
|
NM_000153.4(GALC):c.723C>T (p.Ala241=)
|
rs778552414
|
0.00003
|
NM_000153.4(GALC):c.752+20G>C
|
rs375231645
|
0.00003
|
NM_000153.4(GALC):c.788C>G (p.Ala263Gly)
|
rs1292976689
|
0.00003
|
NM_000153.4(GALC):c.839A>G (p.Asn280Ser)
|
rs1463589873
|
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.94C>A (p.Leu32Met)
|
rs770807058
|
0.00003
|
NM_000153.4(GALC):c.1188G>T (p.Arg396=)
|
rs1348158663
|
0.00002
|
NM_000153.4(GALC):c.122G>C (p.Gly41Ala)
|
rs1287272360
|
0.00002
|
NM_000153.4(GALC):c.1252-4A>G
|
rs371282554
|
0.00002
|
NM_000153.4(GALC):c.1252-5T>C
|
rs748772697
|
0.00002
|
NM_000153.4(GALC):c.1269A>G (p.Leu423=)
|
rs756070678
|
0.00002
|
NM_000153.4(GALC):c.1419C>T (p.Arg473=)
|
rs1231722280
|
0.00002
|
NM_000153.4(GALC):c.1453C>T (p.Pro485Ser)
|
rs771051919
|
0.00002
|
NM_000153.4(GALC):c.1587G>A (p.Thr529=)
|
rs184748969
|
0.00002
|
NM_000153.4(GALC):c.1671-1G>A
|
rs1182103005
|
0.00002
|
NM_000153.4(GALC):c.1671-8T>A
|
rs570766960
|
0.00002
|
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
NM_000153.4(GALC):c.1912-7A>G
|
rs376302808
|
0.00002
|
NM_000153.4(GALC):c.1934T>G (p.Leu645Arg)
|
rs780593419
|
0.00002
|
NM_000153.4(GALC):c.318G>A (p.Gly106=)
|
rs886050867
|
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.57G>T (p.Ala19=)
|
rs1015595560
|
0.00002
|
NM_000153.4(GALC):c.583-4G>T
|
rs751820306
|
0.00002
|
NM_000153.4(GALC):c.610A>C (p.Asn204His)
|
rs372406289
|
0.00002
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
NM_000153.4(GALC):c.674C>A (p.Ala225Glu)
|
rs373077659
|
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.915C>T (p.Ile305=)
|
rs764592856
|
0.00002
|
NM_000153.4(GALC):c.990A>G (p.Pro330=)
|
rs370211494
|
0.00002
|
NM_000153.2(GALC):c.-261C>A
|
rs1307710694
|
0.00001
|
NM_000153.3(GALC):c.-21C>T
|
rs768255795
|
0.00001
|
NM_000153.4(GALC):c.*12G>A
|
rs372641636
|
0.00001
|
NM_000153.4(GALC):c.*14A>G
|
rs143444570
|
0.00001
|
NM_000153.4(GALC):c.-17G>A
|
rs886050868
|
0.00001
|
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.1014A>G (p.Glu338=)
|
rs371096411
|
0.00001
|
NM_000153.4(GALC):c.1027G>T (p.Val343Leu)
|
rs753217734
|
0.00001
|
NM_000153.4(GALC):c.108G>A (p.Leu36=)
|
rs923261706
|
0.00001
|
NM_000153.4(GALC):c.108G>T (p.Leu36=)
|
rs923261706
|
0.00001
|
NM_000153.4(GALC):c.1146C>T (p.Ile382=)
|
rs769253796
|
0.00001
|
NM_000153.4(GALC):c.114G>T (p.Ala38=)
|
rs749514611
|
0.00001
|
NM_000153.4(GALC):c.1172A>G (p.His391Arg)
|
rs1395397636
|
0.00001
|
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)
|
rs1200769534
|
0.00001
|
NM_000153.4(GALC):c.117C>T (p.Pro39=)
|
rs962360205
|
0.00001
|
NM_000153.4(GALC):c.1184T>C (p.Ile395Thr)
|
rs569569879
|
0.00001
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000153.4(GALC):c.118G>A (p.Gly40Ser)
|
rs780050514
|
0.00001
|
NM_000153.4(GALC):c.1191A>G (p.Pro397=)
|
rs376181222
|
0.00001
|
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu)
|
rs1365128831
|
0.00001
|
NM_000153.4(GALC):c.1251+7A>C
|
rs1257896807
|
0.00001
|
NM_000153.4(GALC):c.1251T>C (p.Phe417=)
|
rs200605515
|
0.00001
|
NM_000153.4(GALC):c.1252-2A>G
|
rs1166863449
|
0.00001
|
NM_000153.4(GALC):c.1252-9T>C
|
rs768173742
|
0.00001
|
NM_000153.4(GALC):c.1280A>G (p.Tyr427Cys)
|
rs201591903
|
0.00001
|
NM_000153.4(GALC):c.1281T>C (p.Tyr427=)
|
rs758736879
|
0.00001
|
NM_000153.4(GALC):c.1332T>C (p.Ser444=)
|
rs1595198074
|
0.00001
|
NM_000153.4(GALC):c.1400C>A (p.Thr467Asn)
|
rs750431739
|
0.00001
|
NM_000153.4(GALC):c.1418G>A (p.Arg473His)
|
rs374868151
|
0.00001
|
NM_000153.4(GALC):c.1436T>C (p.Leu479Pro)
|
rs1414778573
|
0.00001
|
NM_000153.4(GALC):c.1441C>T (p.Pro481Ser)
|
rs759122249
|
0.00001
|
NM_000153.4(GALC):c.1443A>G (p.Pro481=)
|
rs1359281521
|
0.00001
|
NM_000153.4(GALC):c.1467C>T (p.Thr489=)
|
rs1885131050
|
0.00001
|
NM_000153.4(GALC):c.1489+9T>C
|
rs747839251
|
0.00001
|
NM_000153.4(GALC):c.1490-6G>A
|
rs773214484
|
0.00001
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
0.00001
|
NM_000153.4(GALC):c.1551T>C (p.Phe517=)
|
rs1230432398
|
0.00001
|
NM_000153.4(GALC):c.1572C>T (p.Gly524=)
|
rs753164684
|
0.00001
|
NM_000153.4(GALC):c.1575G>A (p.Glu525=)
|
rs755353417
|
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.1670+10A>G
|
rs1050027845
|
0.00001
|
NM_000153.4(GALC):c.1695T>C (p.Asp565=)
|
rs1283585586
|
0.00001
|
NM_000153.4(GALC):c.1710C>G (p.Thr570=)
|
rs767710271
|
0.00001
|
NM_000153.4(GALC):c.1710C>T (p.Thr570=)
|
rs767710271
|
0.00001
|
NM_000153.4(GALC):c.1723_1724insT (p.Gly575fs)
|
rs1405488688
|
0.00001
|
NM_000153.4(GALC):c.1727T>C (p.Val576Ala)
|
rs774555128
|
0.00001
|
NM_000153.4(GALC):c.1752A>G (p.Lys584=)
|
rs201016488
|
0.00001
|
NM_000153.4(GALC):c.1760T>C (p.Ile587Thr)
|
rs368818550
|
0.00001
|
NM_000153.4(GALC):c.1824A>G (p.Thr608=)
|
rs1220077307
|
0.00001
|
NM_000153.4(GALC):c.1835-20A>T
|
rs372755909
|
0.00001
|
NM_000153.4(GALC):c.1858G>A (p.Gly620Arg)
|
rs779864190
|
0.00001
|
NM_000153.4(GALC):c.1871T>A (p.Val624Asp)
|
rs1308536313
|
0.00001
|
NM_000153.4(GALC):c.1878A>C (p.Ala626=)
|
rs765726355
|
0.00001
|
NM_000153.4(GALC):c.1893A>G (p.Thr631=)
|
rs1157035657
|
0.00001
|
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro)
|
rs1418694289
|
0.00001
|
NM_000153.4(GALC):c.1896C>G (p.Leu632=)
|
rs1884764241
|
0.00001
|
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
|
rs766762599
|
0.00001
|
NM_000153.4(GALC):c.1911+7A>G
|
rs1315938947
|
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.1947T>C (p.Ser649=)
|
rs924881775
|
0.00001
|
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro)
|
rs1249991480
|
0.00001
|
NM_000153.4(GALC):c.196-7T>C
|
rs1302684850
|
0.00001
|
NM_000153.4(GALC):c.1997T>C (p.Ile666Thr)
|
rs1461381844
|
0.00001
|
NM_000153.4(GALC):c.2001A>C (p.Gly667=)
|
rs769902280
|
0.00001
|
NM_000153.4(GALC):c.201C>G (p.Thr67=)
|
rs1384569360
|
0.00001
|
NM_000153.4(GALC):c.2022A>G (p.Ala674=)
|
rs770785840
|
0.00001
|
NM_000153.4(GALC):c.2054G>A (p.Arg685His)
|
rs529469325
|
0.00001
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
0.00001
|
NM_000153.4(GALC):c.233A>G (p.Tyr78Cys)
|
rs367958957
|
0.00001
|
NM_000153.4(GALC):c.247T>C (p.Leu83=)
|
rs753469861
|
0.00001
|
NM_000153.4(GALC):c.251A>G (p.Asp84Gly)
|
rs1555383882
|
0.00001
|
NM_000153.4(GALC):c.264+10A>G
|
rs781394926
|
0.00001
|
NM_000153.4(GALC):c.27C>T (p.Ser9=)
|
rs1397626290
|
0.00001
|
NM_000153.4(GALC):c.287A>G (p.His96Arg)
|
rs748593957
|
0.00001
|
NM_000153.4(GALC):c.2T>A (p.Met1Lys)
|
rs780972896
|
0.00001
|
NM_000153.4(GALC):c.328+1G>T
|
rs779701490
|
0.00001
|
NM_000153.4(GALC):c.329-6A>G
|
rs1279980405
|
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.387C>T (p.Tyr129=)
|
rs1240965365
|
0.00001
|
NM_000153.4(GALC):c.3G>A (p.Met1Ile)
|
rs758685128
|
0.00001
|
NM_000153.4(GALC):c.40G>A (p.Ala14Thr)
|
rs1180517690
|
0.00001
|
NM_000153.4(GALC):c.426C>T (p.Pro142=)
|
rs754765375
|
0.00001
|
NM_000153.4(GALC):c.428A>G (p.Asn143Ser)
|
rs753623482
|
0.00001
|
NM_000153.4(GALC):c.443-12T>G
|
rs886038261
|
0.00001
|
NM_000153.4(GALC):c.443-30C>T
|
rs886038262
|
0.00001
|
NM_000153.4(GALC):c.450A>G (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.450A>T (p.Pro150=)
|
rs886050866
|
0.00001
|
NM_000153.4(GALC):c.461C>A (p.Pro154His)
|
rs758557526
|
0.00001
|
NM_000153.4(GALC):c.465A>G (p.Gly155=)
|
rs755488240
|
0.00001
|
NM_000153.4(GALC):c.483C>T (p.Phe161=)
|
rs373159695
|
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.48T>C (p.Ala16=)
|
rs1198647597
|
0.00001
|
NM_000153.4(GALC):c.582+1G>A
|
rs750881596
|
0.00001
|
NM_000153.4(GALC):c.582+5G>A
|
rs757016859
|
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.600A>G (p.Ser200=)
|
rs777493633
|
0.00001
|
NM_000153.4(GALC):c.621+11_621+13del
|
rs1567007639
|
0.00001
|
NM_000153.4(GALC):c.621+1G>A
|
rs759511006
|
0.00001
|
NM_000153.4(GALC):c.622-1G>T
|
rs1886499951
|
0.00001
|
NM_000153.4(GALC):c.645T>C (p.Tyr215=)
|
rs1345934268
|
0.00001
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
NM_000153.4(GALC):c.705A>G (p.Ala235=)
|
rs771534115
|
0.00001
|
NM_000153.4(GALC):c.749T>C (p.Ile250Thr)
|
rs886039569
|
0.00001
|
NM_000153.4(GALC):c.752+3A>G
|
rs1567000413
|
0.00001
|
NM_000153.4(GALC):c.753-5T>C
|
rs745331282
|
0.00001
|
NM_000153.4(GALC):c.787G>A (p.Ala263Thr)
|
rs1308816724
|
0.00001
|
NM_000153.4(GALC):c.798T>C (p.Thr266=)
|
rs1482888449
|
0.00001
|
NM_000153.4(GALC):c.804G>A (p.Lys268=)
|
rs754144462
|
0.00001
|
NM_000153.4(GALC):c.81C>T (p.Ala27=)
|
rs759433028
|
0.00001
|
NM_000153.4(GALC):c.84G>A (p.Ala28=)
|
rs1246098637
|
0.00001
|
NM_000153.4(GALC):c.855A>T (p.Ala285=)
|
rs1195240524
|
0.00001
|
NM_000153.4(GALC):c.863G>A (p.Trp288Ter)
|
rs372621124
|
0.00001
|
NM_000153.4(GALC):c.869G>A (p.Arg290His)
|
rs746806459
|
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.916G>A (p.Ala306Thr)
|
rs1349064845
|
0.00001
|
NM_000153.4(GALC):c.927A>C (p.Leu309Phe)
|
rs758904079
|
0.00001
|
NM_000153.4(GALC):c.949T>A (p.Leu317Met)
|
rs766071179
|
0.00001
|
NM_000153.4(GALC):c.957T>C (p.Tyr319=)
|
rs1158171614
|
0.00001
|
NM_000153.4(GALC):c.970T>C (p.Leu324=)
|
rs1194954694
|
0.00001
|
NM_000153.4(GALC):c.978G>A (p.Thr326=)
|
rs1214736198
|
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(chr14:88391502-88423172)
|
|
|
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)
|
|
|
GRCh37/hg19 14q31.3(chr14:88399622-88422569)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88399828-88422607)
|
|
|
GRCh37/hg19 14q31.3(chr14:88400251-88422569)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88400285-88422569)x1
|
|
|
GRCh37/hg19 14q31.3(chr14:88401076-88417092)x1
|
|
|
NC_000014.8:g.(?_88391503)_88423172del
|
|
|
NC_000014.8:g.(?_88391504)_88423173del
|
|
|
NC_000014.8:g.(?_88391504)_88423174del
|
|
|
NC_000014.8:g.(?_88399357)_(88417093_88429727)del
|
|
|
NC_000014.8:g.(?_88401064)_(88406335_?)del
|
|
|
NC_000014.8:g.(?_88411887)_(88417102_?)dup
|
|
|
NC_000014.8:g.(?_88416169)_(88459863_?)dup
|
|
|
NC_000014.8:g.(?_88417067)_(88429464_?)del
|
|
|
NC_000014.8:g.(?_88431839)_(88434844_?)del
|
|
|
NC_000014.8:g.(?_88434669)_(88434844_?)del
|
|
|
NC_000014.8:g.(?_88448539)_(88459971_?)del
|
|
|
NC_000014.9:g.(?_87934712)_(87949951_?)del
|
|
|
NC_000014.9:g.(?_87934712)_(87950768_?)del
|
|
|
NC_000014.9:g.(?_87934720)_(87950758_?)del
|
|
|
NC_000014.9:g.(?_87949835)_(87949941_?)del
|
|
|
NC_000014.9:g.(?_87963374)_(87963521_?)del
|
|
|
NC_000014.9:g.(?_87963374)_(87963521_?)dup
|
|
|
NC_000014.9:g.(?_87965495)_(87968500_?)dup
|
|
|
NC_000014.9:g.(?_87968315)_(87968510_?)del
|
|
|
NC_000014.9:g.(?_87992960)_(87993627_?)del
|
|
|
NC_000014.9:g.87925139C>T
|
rs1555377065
|
|
NC_000014.9:g.87925152T>C
|
rs1555377066
|
|
NC_000014.9:g.87925163_87956828del
|
|
|
NC_000014.9:g.87925176G>A
|
rs1234372203
|
|
NM_000153.2(GALC):c.-218G>C
|
rs1555384433
|
|
NM_000153.2(GALC):c.-219dup
|
rs1555384436
|
|
NM_000153.2(GALC):c.-234delGinsTTCC
|
rs1555384440
|
|
NM_000153.2(GALC):c.-237G>A
|
|
|
NM_000153.2(GALC):c.-257dup
|
rs1555384444
|
|
NM_000153.2(GALC):c.-285dup
|
rs1482465546
|
|
NM_000153.2(GALC):c.-296dup
|
rs1555384458
|
|
NM_000153.2(GALC):c.-317delG
|
rs1555384465
|
|
NM_000153.3(GALC):c.-31delC
|
rs886050869
|
|
NM_000153.3(GALC):c.-66G>C
|
|
|
NM_000153.3(GALC):c.-73G>A
|
rs1887315658
|
|
NM_000153.3(GALC):c.-85T>A
|
rs886050870
|
|
NM_000153.3(GALC):c.1834+22dup
|
rs34752717
|
|
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs)
|
rs886043419
|
|
NM_000153.4(GALC):c.*1584G>A
|
rs893698376
|
|
NM_000153.4(GALC):c.*1598G>A
|
rs574189020
|
|
NM_000153.4(GALC):c.*1625A>G
|
rs188934153
|
|
NM_000153.4(GALC):c.*363A>G
|
rs539617222
|
|
NM_000153.4(GALC):c.*366A>G
|
rs1884480659
|
|
NM_000153.4(GALC):c.*375A>G
|
rs1884480331
|
|
NM_000153.4(GALC):c.*389G>T
|
rs1884479809
|
|
NM_000153.4(GALC):c.*455A>G
|
rs1884476134
|
|
NM_000153.4(GALC):c.*486C>G
|
rs1280004708
|
|
NM_000153.4(GALC):c.*499T>C
|
rs1226531123
|
|
NM_000153.4(GALC):c.*591G>A
|
rs886050863
|
|
NM_000153.4(GALC):c.*877T>A
|
rs185181747
|
|
NM_000153.4(GALC):c.*994C>A
|
rs1884455084
|
|
NM_000153.4(GALC):c.*999T>C
|
rs1267707327
|
|
NM_000153.4(GALC):c.-287G>A
|
rs73312836
|
|
NM_000153.4(GALC):c.-68C>T
|
rs369469562
|
|
NM_000153.4(GALC):c.-80_-75delATCAGC
|
rs564526560
|
|
NM_000153.4(GALC):c.1002C>T (p.His334=)
|
|
|
NM_000153.4(GALC):c.1008G>A (p.Val336=)
|
|
|
NM_000153.4(GALC):c.1008G>T (p.Val336=)
|
|
|
NM_000153.4(GALC):c.1012del (p.Glu338fs)
|
rs1057516469
|
|
NM_000153.4(GALC):c.1021del (p.Val341fs)
|
rs1057517382
|
|
NM_000153.4(GALC):c.1023C>G (p.Val341=)
|
rs2139996078
|
|
NM_000153.4(GALC):c.1029A>G (p.Val343=)
|
rs1389188299
|
|
NM_000153.4(GALC):c.102T>G (p.Cys34Trp)
|
|
|
NM_000153.4(GALC):c.102_103delinsAT (p.Cys34_Ala35delinsTer)
|
rs2139769498
|
|
NM_000153.4(GALC):c.1031C>A (p.Ser344Ter)
|
|
|
NM_000153.4(GALC):c.1031C>G (p.Ser344Ter)
|
rs1555381559
|
|
NM_000153.4(GALC):c.1033+11G>A
|
|
|
NM_000153.4(GALC):c.1033+14C>G
|
|
|
NM_000153.4(GALC):c.1033+1G>A
|
rs2139996044
|
|
NM_000153.4(GALC):c.1033+20C>T
|
|
|
NM_000153.4(GALC):c.1034-13T>C
|
|
|
NM_000153.4(GALC):c.1034-1G>C
|
|
|
NM_000153.4(GALC):c.1034-2A>G
|
|
|
NM_000153.4(GALC):c.1034-62del
|
rs201562753
|
|
NM_000153.4(GALC):c.1034-72dup
|
rs201562753
|
|
NM_000153.4(GALC):c.1038T>C (p.His346=)
|
|
|
NM_000153.4(GALC):c.103G>A (p.Ala35Thr)
|
rs1359964555
|
|
NM_000153.4(GALC):c.1042A>G (p.Thr348Ala)
|
rs200516260
|
|
NM_000153.4(GALC):c.1047G>A (p.Gln349=)
|
rs1475461759
|
|
NM_000153.4(GALC):c.1049T>G (p.Phe350Cys)
|
|
|
NM_000153.4(GALC):c.1056A>G (p.Gln352=)
|
|
|
NM_000153.4(GALC):c.1059T>C (p.Pro353=)
|
rs2139992186
|
|
NM_000153.4(GALC):c.105G>A (p.Ala35=)
|
|
|
NM_000153.4(GALC):c.1060G>A (p.Gly354Ser)
|
|
|
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter)
|
rs1057516270
|
|
NM_000153.4(GALC):c.1065G>T (p.Trp355Cys)
|
|
|
NM_000153.4(GALC):c.1068T>C (p.Tyr356=)
|
rs1349405657
|
|
NM_000153.4(GALC):c.1068T>G (p.Tyr356Ter)
|
|
|
NM_000153.4(GALC):c.1072C>G (p.Leu358Val)
|
|
|
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs)
|
rs1555381439
|
|
NM_000153.4(GALC):c.1078A>G (p.Thr360Ala)
|
rs1298443144
|
|
NM_000153.4(GALC):c.1078A>T (p.Thr360Ser)
|
|
|
NM_000153.4(GALC):c.1081G>A (p.Val361Ile)
|
|
|
NM_000153.4(GALC):c.1083dup (p.Gly362fs)
|
rs767236077
|
|
NM_000153.4(GALC):c.1086C>G (p.Gly362=)
|
rs2139992095
|
|
NM_000153.4(GALC):c.1092A>G (p.Leu364=)
|
|
|
NM_000153.4(GALC):c.1098A>G (p.Lys366=)
|
|
|
NM_000153.4(GALC):c.1102G>T (p.Gly368Ter)
|
|
|
NM_000153.4(GALC):c.1107C>G (p.Ser369Arg)
|
rs1885895082
|
|
NM_000153.4(GALC):c.1109_1110delinsCG (p.Tyr370Ser)
|
|
|
NM_000153.4(GALC):c.110_123dup (p.Ala42fs)
|
rs1555384342
|
|
NM_000153.4(GALC):c.1110C>T (p.Tyr370=)
|
rs372793797
|
|
NM_000153.4(GALC):c.1114G>A (p.Ala372Thr)
|
rs759286485
|
|
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser)
|
rs759286485
|
|
NM_000153.4(GALC):c.111G>C (p.Leu37=)
|
|
|
NM_000153.4(GALC):c.1123_1129dup (p.Leu377Ter)
|
|
|
NM_000153.4(GALC):c.112dup (p.Ala38fs)
|
|
|
NM_000153.4(GALC):c.1131A>G (p.Leu377=)
|
rs2139991961
|
|
NM_000153.4(GALC):c.1149C>T (p.Ile383=)
|
rs2139991910
|
|
NM_000153.4(GALC):c.1150A>G (p.Ile384Val)
|
rs1192791166
|
|
NM_000153.4(GALC):c.1151T>A (p.Ile384Asn)
|
|
|
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
|
|
|
NM_000153.4(GALC):c.1153G>T (p.Glu385Ter)
|
rs121908010
|
|
NM_000153.4(GALC):c.1158_1161+6del
|
rs759068540
|
|
NM_000153.4(GALC):c.1159A>G (p.Met387Val)
|
|
|
NM_000153.4(GALC):c.1161+1del
|
rs1555381417
|
|
NM_000153.4(GALC):c.1161+20A>G
|
|
|
NM_000153.4(GALC):c.1161+248del
|
rs143103231
|
|
NM_000153.4(GALC):c.1161+2T>A
|
|
|
NM_000153.4(GALC):c.1161+2T>G
|
rs398123175
|
|
NM_000153.4(GALC):c.1161+7T>G
|
|
|
NM_000153.4(GALC):c.1161+9T>C
|
rs1885891419
|
|
NM_000153.4(GALC):c.1162-10T>G
|
rs1368917874
|
|
NM_000153.4(GALC):c.1162-14T>C
|
|
|
NM_000153.4(GALC):c.1162-16G>C
|
|
|
NM_000153.4(GALC):c.1162-1G>A
|
|
|
NM_000153.4(GALC):c.1162-4T>A
|
rs774455523
|
|
NM_000153.4(GALC):c.1162-4T>C
|
|
|
NM_000153.4(GALC):c.1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1162-4dup
|
rs11300320
|
|
NM_000153.4(GALC):c.1162-5T>C
|
rs2139963791
|
|
NM_000153.4(GALC):c.1162-5_1162-4del
|
rs11300320
|
|
NM_000153.4(GALC):c.1162-5_1162-4delinsC
|
rs1555379806
|
|
NM_000153.4(GALC):c.1162-6_1162-5delinsA
|
rs1555379811
|
|
NM_000153.4(GALC):c.1162-7T>C
|
|
|
NM_000153.4(GALC):c.1165C>G (p.His389Asp)
|
rs368284541
|
|
NM_000153.4(GALC):c.1167T>C (p.His389=)
|
rs2139963723
|
|
NM_000153.4(GALC):c.1168A>G (p.Lys390Glu)
|
rs2139963715
|
|
NM_000153.4(GALC):c.1168A>T (p.Lys390Ter)
|
|
|
NM_000153.4(GALC):c.1170A>G (p.Lys390=)
|
rs1885269944
|
|
NM_000153.4(GALC):c.1171_1175delinsA (p.His391fs)
|
rs1885269233
|
|
NM_000153.4(GALC):c.1174del (p.Ser392fs)
|
|
|
NM_000153.4(GALC):c.1178del (p.Lys393fs)
|
|
|
NM_000153.4(GALC):c.117C>G (p.Pro39=)
|
rs962360205
|
|
NM_000153.4(GALC):c.117del (p.Gly40fs)
|
|
|
NM_000153.4(GALC):c.1183A>C (p.Ile395Leu)
|
rs763125933
|
|
NM_000153.4(GALC):c.1185A>T (p.Ile395=)
|
|
|
NM_000153.4(GALC):c.1185dup (p.Arg396fs)
|
rs1885268471
|
|
NM_000153.4(GALC):c.1186C>A (p.Arg396=)
|
rs770485731
|
|
NM_000153.4(GALC):c.1188G>A (p.Arg396=)
|
|
|
NM_000153.4(GALC):c.1199C>T (p.Pro400Leu)
|
|
|
NM_000153.4(GALC):c.119G>A (p.Gly40Asp)
|
rs572947747
|
|
NM_000153.4(GALC):c.119G>C (p.Gly40Ala)
|
|
|
NM_000153.4(GALC):c.11G>A (p.Trp4Ter)
|
|
|
NM_000153.4(GALC):c.11_14dup (p.Leu6fs)
|
|
|
NM_000153.4(GALC):c.1200T>G (p.Pro400=)
|
|
|
NM_000153.4(GALC):c.1202A>G (p.Tyr401Cys)
|
|
|
NM_000153.4(GALC):c.1203T>C (p.Tyr401=)
|
|
|
NM_000153.4(GALC):c.1206C>G (p.Phe402Leu)
|
|
|
NM_000153.4(GALC):c.1206C>T (p.Phe402=)
|
rs2139963547
|
|
NM_000153.4(GALC):c.1208A>G (p.Asn403Ser)
|
rs777305549
|
|
NM_000153.4(GALC):c.1209T>C (p.Asn403=)
|
|
|
NM_000153.4(GALC):c.120C>A (p.Gly40=)
|
rs532800656
|
|
NM_000153.4(GALC):c.1213T>A (p.Ser405Thr)
|
|
|
NM_000153.4(GALC):c.1213_1214insTA (p.Ser405fs)
|
rs1885266822
|
|
NM_000153.4(GALC):c.121G>A (p.Gly41Ser)
|
rs387906955
|
|
NM_000153.4(GALC):c.1221A>T (p.Gln407His)
|
|
|
NM_000153.4(GALC):c.1225G>T (p.Ala409Ser)
|
|
|
NM_000153.4(GALC):c.1227C>T (p.Ala409=)
|
rs2139963484
|
|
NM_000153.4(GALC):c.1230del (p.Phe411fs)
|
|
|
NM_000153.4(GALC):c.1239T>G (p.Leu413=)
|
|
|
NM_000153.4(GALC):c.1240A>T (p.Lys414Ter)
|
|
|
NM_000153.4(GALC):c.1242G>A (p.Lys414=)
|
|
|
NM_000153.4(GALC):c.1247C>G (p.Ser416Cys)
|
|
|
NM_000153.4(GALC):c.1251+19C>T
|
|
|
NM_000153.4(GALC):c.1251+1del
|
|
|
NM_000153.4(GALC):c.1251+5G>A
|
rs755870379
|
|
NM_000153.4(GALC):c.1251+5G>C
|
|
|
NM_000153.4(GALC):c.1251+5_1251+8del
|
|
|
NM_000153.4(GALC):c.1251+9del
|
rs2139963339
|
|
NM_000153.4(GALC):c.1252-10T>G
|
rs1595198237
|
|
NM_000153.4(GALC):c.1252-13C>G
|
|
|
NM_000153.4(GALC):c.1252-1G>C
|
rs2139961690
|
|
NM_000153.4(GALC):c.1252-3C>T
|
|
|
NM_000153.4(GALC):c.1252-6T>C
|
|
|
NM_000153.4(GALC):c.1252-7T>C
|
rs2139961710
|
|
NM_000153.4(GALC):c.1252-8C>A
|
rs1327279405
|
|
NM_000153.4(GALC):c.1252-9_1252-5del
|
|
|
NM_000153.4(GALC):c.1257A>G (p.Glu419=)
|
|
|
NM_000153.4(GALC):c.1266G>A (p.Glu422=)
|
|
|
NM_000153.4(GALC):c.1268T>C (p.Leu423Pro)
|
rs1566976644
|
|
NM_000153.4(GALC):c.1270C>T (p.Gln424Ter)
|
rs2139961653
|
|
NM_000153.4(GALC):c.1272_1273insTAG (p.Val425Ter)
|
rs1057517372
|
|
NM_000153.4(GALC):c.1273del (p.Val425fs)
|
rs1057516394
|
|
NM_000153.4(GALC):c.1273dup (p.Val425fs)
|
rs1057516394
|
|
NM_000153.4(GALC):c.1276T>G (p.Trp426Gly)
|
rs2139961618
|
|
NM_000153.4(GALC):c.1285_1324del (p.Lys429fs)
|
rs2139961448
|
|
NM_000153.4(GALC):c.1291G>T (p.Gly431Ter)
|
rs2139961576
|
|
NM_000153.4(GALC):c.1293A>G (p.Gly431=)
|
rs1033051287
|
|
NM_000153.4(GALC):c.1297_1298insT (p.Thr433fs)
|
|
|
NM_000153.4(GALC):c.1297dup (p.Thr433fs)
|
|
|
NM_000153.4(GALC):c.1298C>T (p.Thr433Ile)
|
|
|
NM_000153.4(GALC):c.1302C>G (p.Ser434=)
|
|
|
NM_000153.4(GALC):c.1303G>A (p.Glu435Lys)
|
|
|
NM_000153.4(GALC):c.1305A>G (p.Glu435=)
|
rs2139961496
|
|
NM_000153.4(GALC):c.1308A>G (p.Arg436=)
|
|
|
NM_000153.4(GALC):c.1313T>G (p.Leu438Arg)
|
|
|
NM_000153.4(GALC):c.1318A>T (p.Lys440Ter)
|
|
|
NM_000153.4(GALC):c.1321C>T (p.Gln441Ter)
|
|
|
NM_000153.4(GALC):c.1335_1336del (p.Trp446fs)
|
rs1885229622
|
|
NM_000153.4(GALC):c.1338+16A>G
|
|
|
NM_000153.4(GALC):c.1338+16A>T
|
rs1192426175
|
|
NM_000153.4(GALC):c.1338+16del
|
|
|
NM_000153.4(GALC):c.1338+19C>T
|
|
|
NM_000153.4(GALC):c.1338+1G>C
|
rs1555379669
|
|
NM_000153.4(GALC):c.1338+1G>T
|
rs1555379669
|
|
NM_000153.4(GALC):c.1338G>C (p.Trp446Cys)
|
rs2139961409
|
|
NM_000153.4(GALC):c.1339-10T>C
|
rs1566974690
|
|
NM_000153.4(GALC):c.1339-16G>A
|
|
|
NM_000153.4(GALC):c.1339-19G>T
|
|
|
NM_000153.4(GALC):c.1339-1G>T
|
rs1885138493
|
|
NM_000153.4(GALC):c.1339-20A>G
|
|
|
NM_000153.4(GALC):c.1339-28_1339-12dup
|
|
|
NM_000153.4(GALC):c.1339-8dup
|
rs779423756
|
|
NM_000153.4(GALC):c.1339-9_1339-8del
|
|
|
NM_000153.4(GALC):c.1340_1341delinsAT (p.Leu447His)
|
|
|
NM_000153.4(GALC):c.1347C>T (p.Asp449=)
|
|
|
NM_000153.4(GALC):c.1348A>G (p.Ser450Gly)
|
rs1019851510
|
|
NM_000153.4(GALC):c.1350C>G (p.Ser450Arg)
|
|
|
NM_000153.4(GALC):c.1351G>T (p.Asp451Tyr)
|
rs557778528
|
|
NM_000153.4(GALC):c.1355G>A (p.Gly452Asp)
|
rs1057520151
|
|
NM_000153.4(GALC):c.1358G>T (p.Ser453Ile)
|
rs2139956768
|
|
NM_000153.4(GALC):c.1359T>C (p.Ser453=)
|
|
|
NM_000153.4(GALC):c.1361dup (p.Thr455fs)
|
|
|
NM_000153.4(GALC):c.1362C>T (p.Phe454=)
|
rs2139956762
|
|
NM_000153.4(GALC):c.1364C>T (p.Thr455Ile)
|
|
|
NM_000153.4(GALC):c.1365_1366del (p.Leu456fs)
|
|
|
NM_000153.4(GALC):c.1366C>G (p.Leu456Val)
|
|
|
NM_000153.4(GALC):c.1366C>T (p.Leu456=)
|
rs2139956743
|
|
NM_000153.4(GALC):c.1367T>C (p.Leu456Pro)
|
|
|
NM_000153.4(GALC):c.1367_1368del (p.Leu456fs)
|
rs2139956734
|
|
NM_000153.4(GALC):c.1370G>A (p.Ser457Asn)
|
rs1195834672
|
|
NM_000153.4(GALC):c.1370G>T (p.Ser457Ile)
|
rs1195834672
|
|
NM_000153.4(GALC):c.1371C>T (p.Ser457=)
|
rs2139956714
|
|
NM_000153.4(GALC):c.1374G>A (p.Leu458=)
|
rs375620970
|
|
NM_000153.4(GALC):c.1374G>T (p.Leu458=)
|
|
|
NM_000153.4(GALC):c.1376A>G (p.His459Arg)
|
rs755193670
|
|
NM_000153.4(GALC):c.1383T>C (p.Asp461=)
|
rs2139956673
|
|
NM_000153.4(GALC):c.1385A>C (p.Glu462Ala)
|
|
|
NM_000153.4(GALC):c.1386G>A (p.Glu462=)
|
|
|
NM_000153.4(GALC):c.1392C>A (p.Phe464Leu)
|
rs1313792705
|
|
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile)
|
rs1566974586
|
|
NM_000153.4(GALC):c.1395A>G (p.Thr465=)
|
|
|
NM_000153.4(GALC):c.1396C>A (p.Leu466Ile)
|
|
|
NM_000153.4(GALC):c.1398C>T (p.Leu466=)
|
rs2139956617
|
|
NM_000153.4(GALC):c.1399dup (p.Thr467fs)
|
rs1057518390
|
|
NM_000153.4(GALC):c.13C>T (p.Leu5=)
|
rs1251422660
|
|
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)
|
rs750431739
|
|
NM_000153.4(GALC):c.1405C>G (p.Leu469Val)
|
|
|
NM_000153.4(GALC):c.1405C>T (p.Leu469Phe)
|
|
|
NM_000153.4(GALC):c.1407C>A (p.Leu469=)
|
|
|
NM_000153.4(GALC):c.1411_1432del (p.Thr471fs)
|
rs2139956480
|
|
NM_000153.4(GALC):c.1412C>T (p.Thr471Ile)
|
|
|
NM_000153.4(GALC):c.1417C>T (p.Arg473Cys)
|
|
|
NM_000153.4(GALC):c.1420A>T (p.Lys474Ter)
|
|
|
NM_000153.4(GALC):c.1426dup (p.Ser476fs)
|
rs1057517082
|
|
NM_000153.4(GALC):c.1433del (p.Pro478fs)
|
rs2139956468
|
|
NM_000153.4(GALC):c.1437T>G (p.Leu479=)
|
|
|
NM_000153.4(GALC):c.1437dup (p.Pro480fs)
|
|
|
NM_000153.4(GALC):c.1450C>T (p.Gln484Ter)
|
|
|
NM_000153.4(GALC):c.1450del (p.Gln484fs)
|
|
|
NM_000153.4(GALC):c.1451_1455del (p.Gln484fs)
|
|
|
NM_000153.4(GALC):c.1452G>A (p.Gln484=)
|
|
|
NM_000153.4(GALC):c.1459C>T (p.Pro487Ser)
|
|
|
NM_000153.4(GALC):c.1460C>T (p.Pro487Leu)
|
|
|
NM_000153.4(GALC):c.1464T>C (p.Ser488=)
|
|
|
NM_000153.4(GALC):c.1465dup (p.Thr489fs)
|
rs2139956343
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1468T>G (p.Tyr490Asp)
|
|
|
NM_000153.4(GALC):c.1469A>G (p.Tyr490Cys)
|
|
|
NM_000153.4(GALC):c.1472del (p.Lys491fs)
|
rs771489305
|
|
NM_000153.4(GALC):c.1488_1489+2del
|
rs1555379355
|
|
NM_000153.4(GALC):c.1489+1G>A
|
rs2139956292
|
|
NM_000153.4(GALC):c.1489+1G>C
|
|
|
NM_000153.4(GALC):c.1489+6T>G
|
|
|
NM_000153.4(GALC):c.1489+7A>G
|
|
|
NM_000153.4(GALC):c.1490-11A>G
|
|
|
NM_000153.4(GALC):c.1490-11A>T
|
|
|
NM_000153.4(GALC):c.1490-13dup
|
|
|
NM_000153.4(GALC):c.1490-19T>C
|
|
|
NM_000153.4(GALC):c.1490-4A>G
|
|
|
NM_000153.4(GALC):c.1490-7T>A
|
rs1885047183
|
|
NM_000153.4(GALC):c.1490-8C>G
|
rs1362723313
|
|
NM_000153.4(GALC):c.1496C>T (p.Pro499Leu)
|
rs2139951685
|
|
NM_000153.4(GALC):c.14T>C (p.Leu5Pro)
|
|
|
NM_000153.4(GALC):c.1506T>C (p.Ser502=)
|
rs2139951654
|
|
NM_000153.4(GALC):c.1507G>T (p.Glu503Ter)
|
|
|
NM_000153.4(GALC):c.1509A>G (p.Glu503=)
|
rs2139951641
|
|
NM_000153.4(GALC):c.1519T>C (p.Phe507Leu)
|
rs1555379155
|
|
NM_000153.4(GALC):c.1523C>T (p.Ala508Val)
|
rs2139951602
|
|
NM_000153.4(GALC):c.1531del (p.Thr511fs)
|
rs2139951585
|
|
NM_000153.4(GALC):c.1536T>C (p.Gly512=)
|
|
|
NM_000153.4(GALC):c.1537G>A (p.Val513Ile)
|
|
|
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)
|
rs794727116
|
|
NM_000153.4(GALC):c.1561G>A (p.Glu521Lys)
|
|
|
NM_000153.4(GALC):c.1571del (p.Gly524fs)
|
|
|
NM_000153.4(GALC):c.1572C>A (p.Gly524=)
|
|
|
NM_000153.4(GALC):c.1577A>G (p.His526Arg)
|
rs2139951434
|
|
NM_000153.4(GALC):c.1587G>T (p.Thr529=)
|
rs184748969
|
|
NM_000153.4(GALC):c.1589T>C (p.Leu530Pro)
|
rs2139951392
|
|
NM_000153.4(GALC):c.1590A>T (p.Leu530=)
|
rs2139951380
|
|
NM_000153.4(GALC):c.1592G>C (p.Arg531Pro)
|
rs200378205
|
|
NM_000153.4(GALC):c.1592G>T (p.Arg531Leu)
|
rs200378205
|
|
NM_000153.4(GALC):c.1599T>C (p.Val533=)
|
rs1461334592
|
|
NM_000153.4(GALC):c.1608G>A (p.Gln536=)
|
|
|
NM_000153.4(GALC):c.1613delinsACTCAGCAG (p.Pro538fs)
|
|
|
NM_000153.4(GALC):c.1614C>T (p.Pro538=)
|
|
|
NM_000153.4(GALC):c.1622G>T (p.Trp541Leu)
|
rs2139951226
|
|
NM_000153.4(GALC):c.1623G>A (p.Trp541Ter)
|
|
|
NM_000153.4(GALC):c.1634C>A (p.Ala545Glu)
|
rs1289015582
|
|
NM_000153.4(GALC):c.1638C>T (p.Ser546=)
|
|
|
NM_000153.4(GALC):c.1642A>G (p.Thr548Ala)
|
rs886050864
|
|
NM_000153.4(GALC):c.1648dup (p.Ser550fs)
|
rs2139951107
|
|
NM_000153.4(GALC):c.1662C>T (p.Asp554=)
|
|
|
NM_000153.4(GALC):c.1664A>G (p.Tyr555Cys)
|
|
|
NM_000153.4(GALC):c.1665C>G (p.Tyr555Ter)
|
rs1566972341
|
|
NM_000153.4(GALC):c.1667A>G (p.Asn556Ser)
|
|
|
NM_000153.4(GALC):c.1670+19A>G
|
|
|
NM_000153.4(GALC):c.1670+1G>A
|
rs749597090
|
|
NM_000153.4(GALC):c.1670+1G>T
|
rs749597090
|
|
NM_000153.4(GALC):c.1670+6A>G
|
|
|
NM_000153.4(GALC):c.1670+7T>C
|
|
|
NM_000153.4(GALC):c.1671-10dup
|
|
|
NM_000153.4(GALC):c.1671-15_1671-14del
|
|
|
NM_000153.4(GALC):c.1671-20T>C
|
|
|
NM_000153.4(GALC):c.1671-2A>G
|
|
|
NM_000153.4(GALC):c.1671-4G>T
|
rs2139941832
|
|
NM_000153.4(GALC):c.1674C>G (p.Thr558=)
|
rs2139941792
|
|
NM_000153.4(GALC):c.1676del (p.Asn559fs)
|
|
|
NM_000153.4(GALC):c.1677T>C (p.Asn559=)
|
rs1884855641
|
|
NM_000153.4(GALC):c.1685T>A (p.Ile562Lys)
|
|
|
NM_000153.4(GALC):c.1686A>T (p.Ile562=)
|
rs2139941725
|
|
NM_000153.4(GALC):c.1687_1688insTTTTATAA (p.Lys563delinsIleLeuTer)
|
|
|
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly)
|
rs1595190129
|
|
NM_000153.4(GALC):c.1698A>G (p.Val566=)
|
rs421466
|
|
NM_000153.4(GALC):c.16C>T (p.Leu6Phe)
|
|
|
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer)
|
rs1555378701
|
|
NM_000153.4(GALC):c.1713T>C (p.Pro571=)
|
|
|
NM_000153.4(GALC):c.1717dup (p.Thr573fs)
|
|
|
NM_000153.4(GALC):c.1718C>T (p.Thr573Ile)
|
rs2139941538
|
|
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.1743A>G (p.Arg581=)
|
|
|
NM_000153.4(GALC):c.1744G>A (p.Val582Ile)
|
|
|
NM_000153.4(GALC):c.1746A>G (p.Val582=)
|
rs1884848090
|
|
NM_000153.4(GALC):c.1749T>C (p.Asn583=)
|
|
|
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
|
|
|
NM_000153.4(GALC):c.1754G>A (p.Gly585Asp)
|
rs776098499
|
|
NM_000153.4(GALC):c.1757G>A (p.Gly586Asp)
|
rs2139941444
|
|
NM_000153.4(GALC):c.1758T>A (p.Gly586=)
|
rs746189262
|
|
NM_000153.4(GALC):c.1758T>C (p.Gly586=)
|
rs746189262
|
|
NM_000153.4(GALC):c.1759A>G (p.Ile587Val)
|
|
|
NM_000153.4(GALC):c.1762_1763del (p.Leu588fs)
|
rs751283440
|
|
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer)
|
rs751283440
|
|
NM_000153.4(GALC):c.1764G>A (p.Leu588=)
|
rs2139941407
|
|
NM_000153.4(GALC):c.1772G>A (p.Ser591Asn)
|
|
|
NM_000153.4(GALC):c.1774G>A (p.Ala592Thr)
|
|
|
NM_000153.4(GALC):c.1774G>T (p.Ala592Ser)
|
rs1360345372
|
|
NM_000153.4(GALC):c.1778G>C (p.Arg593Thr)
|
rs1566969057
|
|
NM_000153.4(GALC):c.1781G>A (p.Gly594Glu)
|
rs2139941367
|
|
NM_000153.4(GALC):c.1781G>T (p.Gly594Val)
|
rs2139941367
|
|
NM_000153.4(GALC):c.1789_1800del (p.Phe597_Phe600del)
|
rs2139941321
|
|
NM_000153.4(GALC):c.1793G>A (p.Trp598Ter)
|
rs1884845930
|
|
NM_000153.4(GALC):c.1796T>G (p.Ile599Ser)
|
rs387906953
|
|
NM_000153.4(GALC):c.1803A>T (p.Ala601=)
|
|
|
NM_000153.4(GALC):c.1806T>C (p.Asn602=)
|
rs2139941287
|
|
NM_000153.4(GALC):c.1809A>G (p.Gly603=)
|
rs1884845093
|
|
NM_000153.4(GALC):c.1815C>T (p.Tyr605=)
|
rs2139941240
|
|
NM_000153.4(GALC):c.1815dup (p.Arg606fs)
|
rs2139941246
|
|
NM_000153.4(GALC):c.1816A>T (p.Arg606Trp)
|
|
|
NM_000153.4(GALC):c.1821dup (p.Thr608fs)
|
rs2139941220
|
|
NM_000153.4(GALC):c.1829A>C (p.Asp610Ala)
|
rs754732860
|
|
NM_000153.4(GALC):c.1830T>C (p.Asp610=)
|
rs2139941185
|
|
NM_000153.4(GALC):c.1834+13_1834+14insA
|
|
|
NM_000153.4(GALC):c.1834+17T>C
|
|
|
NM_000153.4(GALC):c.1834+18T>G
|
|
|
NM_000153.4(GALC):c.1834+1G>A
|
|
|
NM_000153.4(GALC):c.1834+7G>T
|
|
|
NM_000153.4(GALC):c.1834+8A>G
|
|
|
NM_000153.4(GALC):c.1834+9C>G
|
|
|
NM_000153.4(GALC):c.1835-14T>C
|
|
|
NM_000153.4(GALC):c.1835-15A>G
|
|
|
NM_000153.4(GALC):c.1835-17A>C
|
|
|
NM_000153.4(GALC):c.1835-18A>T
|
|
|
NM_000153.4(GALC):c.1835-1G>A
|
rs1555378562
|
|
NM_000153.4(GALC):c.1835-20A>G
|
|
|
NM_000153.4(GALC):c.1835-4A>G
|
|
|
NM_000153.4(GALC):c.1835-9G>C
|
rs1884768613
|
|
NM_000153.4(GALC):c.1835C>T (p.Ala612Val)
|
|
|
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter)
|
rs1057517033
|
|
NM_000153.4(GALC):c.1839A>T (p.Gly613=)
|
|
|
NM_000153.4(GALC):c.1842G>A (p.Trp614Ter)
|
rs1884767890
|
|
NM_000153.4(GALC):c.1845T>A (p.Ile615=)
|
rs2139937985
|
|
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer)
|
rs1057516433
|
|
NM_000153.4(GALC):c.1853del (p.Ala618fs)
|
rs2139937977
|
|
NM_000153.4(GALC):c.1859G>C (p.Gly620Ala)
|
|
|
NM_000153.4(GALC):c.1872T>A (p.Val624=)
|
|
|
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs)
|
rs1884764754
|
|
NM_000153.4(GALC):c.1875A>G (p.Thr625=)
|
rs752821190
|
|
NM_000153.4(GALC):c.1878_1894del (p.Lys627fs)
|
|
|
NM_000153.4(GALC):c.1882A>T (p.Lys628Ter)
|
|
|
NM_000153.4(GALC):c.1884A>G (p.Lys628=)
|
rs760065776
|
|
NM_000153.4(GALC):c.1884del (p.Lys628fs)
|
rs1336726861
|
|
NM_000153.4(GALC):c.1884dup (p.Trp629fs)
|
rs1336726861
|
|
NM_000153.4(GALC):c.1886G>T (p.Trp629Leu)
|
rs1566967736
|
|
NM_000153.4(GALC):c.1887del (p.Trp629fs)
|
rs1884765073
|
|
NM_000153.4(GALC):c.1890T>A (p.Tyr630Ter)
|
rs1057516453
|
|
NM_000153.4(GALC):c.1890T>C (p.Tyr630=)
|
rs1057516453
|
|
NM_000153.4(GALC):c.1892C>T (p.Thr631Ile)
|
|
|
NM_000153.4(GALC):c.1896C>T (p.Leu632=)
|
|
|
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs)
|
rs749708827
|
|
NM_000153.4(GALC):c.1897dup (p.Thr633fs)
|
rs1555378538
|
|
NM_000153.4(GALC):c.1898C>G (p.Thr633Arg)
|
rs766762599
|
|
NM_000153.4(GALC):c.1899G>A (p.Thr633=)
|
rs370259898
|
|
NM_000153.4(GALC):c.1899G>T (p.Thr633=)
|
rs370259898
|
|
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)
|
rs1555378534
|
|
NM_000153.4(GALC):c.1902A>G (p.Leu634=)
|
|
|
NM_000153.4(GALC):c.1904C>A (p.Thr635Asn)
|
|
|
NM_000153.4(GALC):c.1911+10G>A
|
rs2139937598
|
|
NM_000153.4(GALC):c.1911+11C>G
|
|
|
NM_000153.4(GALC):c.1911+14A>G
|
|
|
NM_000153.4(GALC):c.1911+1_1911+5del
|
rs777955784
|
|
NM_000153.4(GALC):c.1911+20G>A
|
|
|
NM_000153.4(GALC):c.1911+20G>T
|
|
|
NM_000153.4(GALC):c.1911+4A>G
|
|
|
NM_000153.4(GALC):c.1911+9T>G
|
rs2139937603
|
|
NM_000153.4(GALC):c.1912-10_1912-7dup
|
rs2139926060
|
|
NM_000153.4(GALC):c.1912-17_1912-16del
|
rs770352387
|
|
NM_000153.4(GALC):c.1912-19G>A
|
|
|
NM_000153.4(GALC):c.1912-1G>C
|
rs1555377947
|
|
NM_000153.4(GALC):c.1912-238T>C
|
rs79558046
|
|
NM_000153.4(GALC):c.1912-4C>G
|
rs1448244760
|
|
NM_000153.4(GALC):c.1912-6CT[3]
|
|
|
NM_000153.4(GALC):c.1914T>A (p.Gly638=)
|
|
|
NM_000153.4(GALC):c.1920_1921inv (p.Thr641Ala)
|
|
|
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)
|
rs1884501856
|
|
NM_000153.4(GALC):c.1944G>A (p.Lys648=)
|
|
|
NM_000153.4(GALC):c.1946C>G (p.Ser649Cys)
|
rs1158521193
|
|
NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)
|
|
|
NM_000153.4(GALC):c.196-10T>G
|
|
|
NM_000153.4(GALC):c.196-12T>C
|
|
|
NM_000153.4(GALC):c.196-12T>G
|
|
|
NM_000153.4(GALC):c.196-14A>G
|
|
|
NM_000153.4(GALC):c.196-16A>G
|
|
|
NM_000153.4(GALC):c.196-17A>G
|
|
|
NM_000153.4(GALC):c.196-19T>C
|
|
|
NM_000153.4(GALC):c.196-19del
|
|
|
NM_000153.4(GALC):c.196-201del
|
rs112118889
|
|
NM_000153.4(GALC):c.196-20T>C
|
|
|
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.196-7T>A
|
rs1302684850
|
|
NM_000153.4(GALC):c.196-7T>G
|
|
|
NM_000153.4(GALC):c.196-9T>G
|
|
|
NM_000153.4(GALC):c.1964del (p.Pro655fs)
|
rs2139925832
|
|
NM_000153.4(GALC):c.196G>A (p.Ala66Thr)
|
rs1057518843
|
|
NM_000153.4(GALC):c.1978A>G (p.Lys660Glu)
|
|
|
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter)
|
rs762034337
|
|
NM_000153.4(GALC):c.1980G>C (p.Lys660Asn)
|
|
|
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly)
|
rs1060499761
|
|
NM_000153.4(GALC):c.1987del (p.Trp663fs)
|
rs2139925729
|
|
NM_000153.4(GALC):c.198A>C (p.Ala66=)
|
rs1375871159
|
|
NM_000153.4(GALC):c.1992T>C (p.Ala664=)
|
rs763585644
|
|
NM_000153.4(GALC):c.1999G>A (p.Gly667Arg)
|
|
|
NM_000153.4(GALC):c.199A>C (p.Thr67Pro)
|
rs2139759522
|
|
NM_000153.4(GALC):c.19_20del (p.Ser7fs)
|
rs1887303860
|
|
NM_000153.4(GALC):c.1A>G (p.Met1Val)
|
rs1555384382
|
|
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro)
|
rs1884498480
|
|
NM_000153.4(GALC):c.2002A>G (p.Thr668Ala)
|
rs1884498480
|
|
NM_000153.4(GALC):c.2003C>G (p.Thr668Ser)
|
|
|
NM_000153.4(GALC):c.2003C>T (p.Thr668Ile)
|
|
|
NM_000153.4(GALC):c.2006A>G (p.His669Arg)
|
|
|
NM_000153.4(GALC):c.2006_2009del (p.His669fs)
|
|
|
NM_000153.4(GALC):c.2007C>T (p.His669=)
|
rs1884498007
|
|
NM_000153.4(GALC):c.200C>A (p.Thr67Asn)
|
|
|
NM_000153.4(GALC):c.200C>T (p.Thr67Ile)
|
rs1478697086
|
|
NM_000153.4(GALC):c.2010C>T (p.Ser670=)
|
rs2139925606
|
|
NM_000153.4(GALC):c.2025G>T (p.Gln675His)
|
|
|
NM_000153.4(GALC):c.2028T>C (p.Phe676=)
|
|
|
NM_000153.4(GALC):c.2029del (p.Asp677fs)
|
rs2139925574
|
|
NM_000153.4(GALC):c.2031C>T (p.Asp677=)
|
rs2139925570
|
|
NM_000153.4(GALC):c.2033A>G (p.Asn678Ser)
|
|
|
NM_000153.4(GALC):c.2036_2040del (p.Phe679fs)
|
rs2139925505
|
|
NM_000153.4(GALC):c.2037T>C (p.Phe679=)
|
|
|
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.203C>T (p.Ser68Phe)
|
rs1555383892
|
|
NM_000153.4(GALC):c.2040T>C (p.Leu680=)
|
rs1884496164
|
|
NM_000153.4(GALC):c.2042T>C (p.Val681Ala)
|
|
|
NM_000153.4(GALC):c.2042T>G (p.Val681Gly)
|
|
|
NM_000153.4(GALC):c.2049C>A (p.Ala683=)
|
|
|
NM_000153.4(GALC):c.204C>T (p.Ser68=)
|
rs2139759503
|
|
NM_000153.4(GALC):c.2050A>G (p.Thr684Ala)
|
|
|
NM_000153.4(GALC):c.2053C>A (p.Arg685Ser)
|
rs756141815
|
|
NM_000153.4(GALC):c.2053C>T (p.Arg685Cys)
|
|
|
NM_000153.4(GALC):c.2055C>T (p.Arg685=)
|
rs982394931
|
|
NM_000153.4(GALC):c.2056T>C (p.Ter686Gln)
|
rs1406731723
|
|
NM_000153.4(GALC):c.2057A>G (p.Ter686=)
|
|
|
NM_000153.4(GALC):c.2058A>C (p.Ter686Tyr)
|
|
|
NM_000153.4(GALC):c.2058A>G (p.Ter686=)
|
|
|
NM_000153.4(GALC):c.205C>G (p.Arg69Gly)
|
|
|
NM_000153.4(GALC):c.210dup (p.Leu71fs)
|
rs1887064841
|
|
NM_000153.4(GALC):c.213A>G (p.Leu71=)
|
|
|
NM_000153.4(GALC):c.216A>G (p.Val72=)
|
rs2139759473
|
|
NM_000153.4(GALC):c.21G>T (p.Ser7=)
|
|
|
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter)
|
rs959445153
|
|
NM_000153.4(GALC):c.222C>T (p.Tyr74=)
|
rs959445153
|
|
NM_000153.4(GALC):c.228G>A (p.Glu76=)
|
|
|
NM_000153.4(GALC):c.231_232del (p.Tyr78fs)
|
|
|
NM_000153.4(GALC):c.234T>C (p.Tyr78=)
|
rs2139759411
|
|
NM_000153.4(GALC):c.236G>A (p.Arg79His)
|
|
|
NM_000153.4(GALC):c.236G>C (p.Arg79Pro)
|
|
|
NM_000153.4(GALC):c.246A>G (p.Ile82Met)
|
|
|
NM_000153.4(GALC):c.24T>A (p.Ala8=)
|
|
|
NM_000153.4(GALC):c.250G>A (p.Asp84Asn)
|
rs2139759348
|
|
NM_000153.4(GALC):c.254A>C (p.Tyr85Ser)
|
|
|
NM_000153.4(GALC):c.255T>A (p.Tyr85Ter)
|
|
|
NM_000153.4(GALC):c.258C>A (p.Leu86=)
|
rs375382346
|
|
NM_000153.4(GALC):c.258C>T (p.Leu86=)
|
rs375382346
|
|
NM_000153.4(GALC):c.25T>G (p.Ser9Ala)
|
|
|
NM_000153.4(GALC):c.264+14A>G
|
|
|
NM_000153.4(GALC):c.264+1G>A
|
rs1458925593
|
|
NM_000153.4(GALC):c.264+2T>C
|
|
|
NM_000153.4(GALC):c.264+2T>G
|
|
|
NM_000153.4(GALC):c.264+3A>C
|
rs1567014543
|
|
NM_000153.4(GALC):c.264+5T>A
|
rs2139759293
|
|
NM_000153.4(GALC):c.264+7A>G
|
|
|
NM_000153.4(GALC):c.264+7A>T
|
|
|
NM_000153.4(GALC):c.265-10C>T
|
|
|
NM_000153.4(GALC):c.265-14A>G
|
|
|
NM_000153.4(GALC):c.265-19C>A
|
|
|
NM_000153.4(GALC):c.265-20A>G
|
|
|
NM_000153.4(GALC):c.265-3C>G
|
|
|
NM_000153.4(GALC):c.265-4A>G
|
|
|
NM_000153.4(GALC):c.267G>A (p.Pro89=)
|
rs1258153050
|
|
NM_000153.4(GALC):c.26C>T (p.Ser9Phe)
|
|
|
NM_000153.4(GALC):c.270T>A (p.Asn90Lys)
|
|
|
NM_000153.4(GALC):c.27del (p.Trp10fs)
|
rs2139769959
|
|
NM_000153.4(GALC):c.280T>C (p.Ser94Pro)
|
|
|
NM_000153.4(GALC):c.281del (p.Ser94fs)
|
rs2139758786
|
|
NM_000153.4(GALC):c.283_284del (p.Leu95fs)
|
rs2139758767
|
|
NM_000153.4(GALC):c.284dup (p.Leu95fs)
|
|
|
NM_000153.4(GALC):c.290T>C (p.Ile97Thr)
|
|
|
NM_000153.4(GALC):c.293del (p.Ile97_Leu98insTer)
|
|
|
NM_000153.4(GALC):c.293dup (p.Leu98fs)
|
rs757799254
|
|
NM_000153.4(GALC):c.298G>A (p.Val100Met)
|
|
|
NM_000153.4(GALC):c.29G>A (p.Trp10Ter)
|
rs2139769937
|
|
NM_000153.4(GALC):c.2T>C (p.Met1Thr)
|
rs780972896
|
|
NM_000153.4(GALC):c.302_308dup (p.Gly104fs)
|
rs2139758703
|
|
NM_000153.4(GALC):c.303A>G (p.Glu101=)
|
|
|
NM_000153.4(GALC):c.308G>T (p.Gly103Val)
|
rs1567014169
|
|
NM_000153.4(GALC):c.313G>A (p.Asp105Asn)
|
rs1361755363
|
|
NM_000153.4(GALC):c.316G>A (p.Gly106Arg)
|
|
|
NM_000153.4(GALC):c.321G>A (p.Gln107=)
|
rs2139758670
|
|
NM_000153.4(GALC):c.328+12T>C
|
|
|
NM_000153.4(GALC):c.328+19T>C
|
|
|
NM_000153.4(GALC):c.328+19T>G
|
|
|
NM_000153.4(GALC):c.328+1G>A
|
rs779701490
|
|
NM_000153.4(GALC):c.328+3A>G
|
rs377682096
|
|
NM_000153.4(GALC):c.328G>A (p.Asp110Asn)
|
|
|
NM_000153.4(GALC):c.329-10C>T
|
|
|
NM_000153.4(GALC):c.329-10_329-8del
|
rs770389075
|
|
NM_000153.4(GALC):c.329-11C>T
|
|
|
NM_000153.4(GALC):c.329-12T>A
|
|
|
NM_000153.4(GALC):c.329-12_329-3del
|
|
|
NM_000153.4(GALC):c.329-1G>A
|
rs1365632054
|
|
NM_000153.4(GALC):c.329-2A>G
|
rs2139755114
|
|
NM_000153.4(GALC):c.329-4T>G
|
rs1220993077
|
|
NM_000153.4(GALC):c.329-6A>C
|
|
|
NM_000153.4(GALC):c.329-6_329-5del
|
|
|
NM_000153.4(GALC):c.329-8C>G
|
rs745493654
|
|
NM_000153.4(GALC):c.32A>G (p.Gln11Arg)
|
rs2139769922
|
|
NM_000153.4(GALC):c.332del (p.Gly111fs)
|
rs2139755093
|
|
NM_000153.4(GALC):c.339G>A (p.Glu113=)
|
|
|
NM_000153.4(GALC):c.349A>C (p.Met117Leu)
|
rs145580093
|
|
NM_000153.4(GALC):c.349A>T (p.Met117Leu)
|
rs145580093
|
|
NM_000153.4(GALC):c.356A>C (p.Tyr119Ser)
|
rs2139754980
|
|
NM_000153.4(GALC):c.357T>C (p.Tyr119=)
|
rs1567012468
|
|
NM_000153.4(GALC):c.360A>C (p.Ala120=)
|
|
|
NM_000153.4(GALC):c.360A>G (p.Ala120=)
|
rs1172612470
|
|
NM_000153.4(GALC):c.361C>T (p.Leu121=)
|
|
|
NM_000153.4(GALC):c.365A>G (p.Asp122Gly)
|
|
|
NM_000153.4(GALC):c.366T>C (p.Asp122=)
|
rs751595447
|
|
NM_000153.4(GALC):c.369G>T (p.Glu123Asp)
|
|
|
NM_000153.4(GALC):c.370A>G (p.Asn124Asp)
|
|
|
NM_000153.4(GALC):c.371_372insCATTGCAAACT (p.Tyr125fs)
|
|
|
NM_000153.4(GALC):c.379C>A (p.Arg127=)
|
rs200532368
|
|
NM_000153.4(GALC):c.37C>G (p.Arg13Gly)
|
rs1173602413
|
|
NM_000153.4(GALC):c.37C>T (p.Arg13Ter)
|
rs1173602413
|
|
NM_000153.4(GALC):c.380G>T (p.Arg127Leu)
|
rs775886832
|
|
NM_000153.4(GALC):c.383G>C (p.Gly128Ala)
|
rs367604629
|
|
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter)
|
rs1240965365
|
|
NM_000153.4(GALC):c.388G>C (p.Glu130Gln)
|
|
|
NM_000153.4(GALC):c.389A>G (p.Glu130Gly)
|
|
|
NM_000153.4(GALC):c.392G>A (p.Trp131Ter)
|
|
|
NM_000153.4(GALC):c.395G>A (p.Trp132Ter)
|
|
|
NM_000153.4(GALC):c.396G>A (p.Trp132Ter)
|
rs2139754775
|
|
NM_000153.4(GALC):c.398TGA[1] (p.Met134del)
|
rs1886979623
|
|
NM_000153.4(GALC):c.3G>T (p.Met1Ile)
|
rs758685128
|
|
NM_000153.4(GALC):c.403A>T (p.Lys135Ter)
|
|
|
NM_000153.4(GALC):c.408A>G (p.Glu136=)
|
|
|
NM_000153.4(GALC):c.408del (p.Ala137fs)
|
|
|
NM_000153.4(GALC):c.411T>A (p.Ala137=)
|
|
|
NM_000153.4(GALC):c.411_413del (p.Lys139del)
|
rs1555383687
|
|
NM_000153.4(GALC):c.414G>A (p.Lys138=)
|
rs977080847
|
|
NM_000153.4(GALC):c.415A>T (p.Lys139Ter)
|
rs1057516673
|
|
NM_000153.4(GALC):c.417G>A (p.Lys139=)
|
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4(GALC):c.426C>A (p.Pro142=)
|
rs754765375
|
|
NM_000153.4(GALC):c.42G>A (p.Ala14=)
|
|
|
NM_000153.4(GALC):c.432_433dup (p.Thr145fs)
|
rs2139754606
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
NM_000153.4(GALC):c.435A>G (p.Thr145=)
|
rs2139754577
|
|
NM_000153.4(GALC):c.438C>A (p.Leu146=)
|
|
|
NM_000153.4(GALC):c.438C>T (p.Leu146=)
|
rs751654966
|
|
NM_000153.4(GALC):c.43A>G (p.Lys15Glu)
|
|
|
NM_000153.4(GALC):c.442+12A>G
|
|
|
NM_000153.4(GALC):c.442+16T>G
|
rs2139754464
|
|
NM_000153.4(GALC):c.442+17G>A
|
|
|
NM_000153.4(GALC):c.442+17G>T
|
|
|
NM_000153.4(GALC):c.442+19_442+20insAAGAAATGAAGTTTGCAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
|
|
|
NM_000153.4(GALC):c.442+1G>A
|
rs1886976159
|
|
NM_000153.4(GALC):c.442+20A>G
|
|
|
NM_000153.4(GALC):c.442+2T>G
|
rs1057516632
|
|
NM_000153.4(GALC):c.442+4A>G
|
rs753169234
|
|
NM_000153.4(GALC):c.442+7A>G
|
|
|
NM_000153.4(GALC):c.442+8A>T
|
|
|
NM_000153.4(GALC):c.443-127_443-123del
|
rs140138159
|
|
NM_000153.4(GALC):c.443-13C>A
|
|
|
NM_000153.4(GALC):c.443-13C>G
|
|
|
NM_000153.4(GALC):c.443-15C>T
|
|
|
NM_000153.4(GALC):c.443-1G>C
|
rs1886890531
|
|
NM_000153.4(GALC):c.443-2A>G
|
rs1595236714
|
|
NM_000153.4(GALC):c.443-6C>G
|
rs1886890773
|
|
NM_000153.4(GALC):c.443-8C>G
|
rs1886890897
|
|
NM_000153.4(GALC):c.447G>A (p.Leu149=)
|
|
|
NM_000153.4(GALC):c.44A>G (p.Lys15Arg)
|
|
|
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)
|
rs745620101
|
|
NM_000153.4(GALC):c.454T>C (p.Ser152Pro)
|
|
|
NM_000153.4(GALC):c.456A>C (p.Ser152=)
|
|
|
NM_000153.4(GALC):c.456A>G (p.Ser152=)
|
rs537270750
|
|
NM_000153.4(GALC):c.45A>G (p.Lys15=)
|
rs2139769850
|
|
NM_000153.4(GALC):c.467_468dup (p.Leu157fs)
|
rs1057517185
|
|
NM_000153.4(GALC):c.46G>A (p.Ala16Thr)
|
|
|
NM_000153.4(GALC):c.474A>G (p.Gly158=)
|
|
|
NM_000153.4(GALC):c.477A>G (p.Lys159=)
|
|
|
NM_000153.4(GALC):c.479G>C (p.Gly160Ala)
|
|
|
NM_000153.4(GALC):c.484G>A (p.Asp162Asn)
|
|
|
NM_000153.4(GALC):c.488G>A (p.Trp163Ter)
|
|
|
NM_000153.4(GALC):c.495T>C (p.Tyr165=)
|
rs1171860585
|
|
NM_000153.4(GALC):c.498del (p.Asn167fs)
|
rs1886886241
|
|
NM_000153.4(GALC):c.49A>C (p.Met17Leu)
|
rs376662045
|
|
NM_000153.4(GALC):c.49_50del (p.Met17fs)
|
rs1555384360
|
|
NM_000153.4(GALC):c.501T>C (p.Asn167=)
|
|
|
NM_000153.4(GALC):c.505C>T (p.Gln169Ter)
|
rs2139749699
|
|
NM_000153.4(GALC):c.508C>T (p.Leu170=)
|
|
|
NM_000153.4(GALC):c.509T>C (p.Leu170Pro)
|
|
|
NM_000153.4(GALC):c.50T>A (p.Met17Lys)
|
|
|
NM_000153.4(GALC):c.514G>A (p.Ala172Thr)
|
|
|
NM_000153.4(GALC):c.516C>A (p.Ala172=)
|
rs1248283732
|
|
NM_000153.4(GALC):c.516C>T (p.Ala172=)
|
rs1248283732
|
|
NM_000153.4(GALC):c.516_517del (p.Tyr173fs)
|
|
|
NM_000153.4(GALC):c.518A>G (p.Tyr173Cys)
|
rs1388075066
|
|
NM_000153.4(GALC):c.521del (p.Tyr174fs)
|
rs1555383517
|
|
NM_000153.4(GALC):c.522T>C (p.Tyr174=)
|
|
|
NM_000153.4(GALC):c.528G>A (p.Val176=)
|
rs2139749565
|
|
NM_000153.4(GALC):c.531C>A (p.Thr177=)
|
|
|
NM_000153.4(GALC):c.531C>G (p.Thr177=)
|
|
|
NM_000153.4(GALC):c.533G>A (p.Trp178Ter)
|
rs968905231
|
|
NM_000153.4(GALC):c.541G>A (p.Gly181Ser)
|
|
|
NM_000153.4(GALC):c.542del (p.Gly181fs)
|
|
|
NM_000153.4(GALC):c.546C>T (p.Ala182=)
|
rs1204124331
|
|
NM_000153.4(GALC):c.54T>G (p.Thr18=)
|
|
|
NM_000153.4(GALC):c.552T>A (p.Arg184=)
|
rs1886881987
|
|
NM_000153.4(GALC):c.555_575del (p.His186_Tyr192del)
|
rs1555383500
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.561T>C (p.Asp187=)
|
|
|
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)
|
rs1555383498
|
|
NM_000153.4(GALC):c.57G>C (p.Ala19=)
|
rs1015595560
|
|
NM_000153.4(GALC):c.581G>C (p.Gly194Ala)
|
rs963756824
|
|
NM_000153.4(GALC):c.582+10A>G
|
rs751190201
|
|
NM_000153.4(GALC):c.582+11T>C
|
|
|
NM_000153.4(GALC):c.582+13T>C
|
|
|
NM_000153.4(GALC):c.582+18A>T
|
|
|
NM_000153.4(GALC):c.582+1G>C
|
|
|
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.582+2T>C
|
|
|
NM_000153.4(GALC):c.582+7A>G
|
rs2139749320
|
|
NM_000153.4(GALC):c.583-108G>A
|
rs17797993
|
|
NM_000153.4(GALC):c.583-108G>T
|
rs17797993
|
|
NM_000153.4(GALC):c.583-10T>G
|
rs2139743870
|
|
NM_000153.4(GALC):c.583-11T>C
|
rs886050865
|
|
NM_000153.4(GALC):c.583-11_583-10del
|
|
|
NM_000153.4(GALC):c.583-12T>C
|
|
|
NM_000153.4(GALC):c.583-13T>G
|
|
|
NM_000153.4(GALC):c.583-14T>A
|
|
|
NM_000153.4(GALC):c.583-1G>C
|
rs1555383310
|
|
NM_000153.4(GALC):c.583-20T>G
|
|
|
NM_000153.4(GALC):c.583-2A>G
|
|
|
NM_000153.4(GALC):c.583-4G>C
|
|
|
NM_000153.4(GALC):c.583-6T>G
|
|
|
NM_000153.4(GALC):c.583-8T>C
|
rs1037117075
|
|
NM_000153.4(GALC):c.583-9del
|
|
|
NM_000153.4(GALC):c.583A>G (p.Ile195Val)
|
rs1555383309
|
|
NM_000153.4(GALC):c.591T>C (p.Asn197=)
|
|
|
NM_000153.4(GALC):c.591dup (p.Glu198Ter)
|
rs1555383308
|
|
NM_000153.4(GALC):c.593A>C (p.Glu198Ala)
|
|
|
NM_000153.4(GALC):c.597G>T (p.Arg199Ser)
|
rs1886780825
|
|
NM_000153.4(GALC):c.598T>C (p.Ser200Pro)
|
|
|
NM_000153.4(GALC):c.599C>A (p.Ser200Ter)
|
rs786204618
|
|
NM_000153.4(GALC):c.603T>C (p.Tyr201=)
|
rs879731155
|
|
NM_000153.4(GALC):c.606T>G (p.Asn202Lys)
|
|
|
NM_000153.4(GALC):c.609C>G (p.Ala203=)
|
rs2139743751
|
|
NM_000153.4(GALC):c.61_63delinsCCA (p.Ala21Pro)
|
|
|
NM_000153.4(GALC):c.620del (p.Lys207fs)
|
|
|
NM_000153.4(GALC):c.621+10A>G
|
|
|
NM_000153.4(GALC):c.621+14T>C
|
|
|
NM_000153.4(GALC):c.621+15A>G
|
|
|
NM_000153.4(GALC):c.621+15_621+23del
|
|
|
NM_000153.4(GALC):c.621+16G>A
|
|
|
NM_000153.4(GALC):c.621+18A>G
|
|
|
NM_000153.4(GALC):c.621+20C>G
|
|
|
NM_000153.4(GALC):c.621+20C>T
|
|
|
NM_000153.4(GALC):c.621+5G>A
|
rs1555383306
|
|
NM_000153.4(GALC):c.621+6T>C
|
|
|
NM_000153.4(GALC):c.621+8C>G
|
rs2139743655
|
|
NM_000153.4(GALC):c.621+9A>C
|
|
|
NM_000153.4(GALC):c.621G>A (p.Lys207=)
|
rs1428763453
|
|
NM_000153.4(GALC):c.622-10A>C
|
rs2140016510
|
|
NM_000153.4(GALC):c.622-11T>C
|
|
|
NM_000153.4(GALC):c.622-137CAAA[4]
|
rs146880216
|
|
NM_000153.4(GALC):c.622-19C>G
|
|
|
NM_000153.4(GALC):c.622-7C>A
|
|
|
NM_000153.4(GALC):c.622-8T>C
|
|
|
NM_000153.4(GALC):c.625T>C (p.Leu209=)
|
|
|
NM_000153.4(GALC):c.627A>G (p.Leu209=)
|
rs1319559158
|
|
NM_000153.4(GALC):c.630A>G (p.Arg210=)
|
|
|
NM_000153.4(GALC):c.635T>C (p.Met212Thr)
|
|
|
NM_000153.4(GALC):c.639G>A (p.Leu213=)
|
|
|
NM_000153.4(GALC):c.63G>A (p.Ala21=)
|
|
|
NM_000153.4(GALC):c.63G>T (p.Ala21=)
|
rs756641128
|
|
NM_000153.4(GALC):c.645del (p.Gln216fs)
|
|
|
NM_000153.4(GALC):c.646_647del (p.Gln216fs)
|
|
|
NM_000153.4(GALC):c.64G>C (p.Gly22Arg)
|
rs768031195
|
|
NM_000153.4(GALC):c.654C>T (p.Leu218=)
|
rs2140016397
|
|
NM_000153.4(GALC):c.655C>T (p.Gln219Ter)
|
|
|
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.65G>C (p.Gly22Ala)
|
rs372285275
|
|
NM_000153.4(GALC):c.65_74del (p.Gly22fs)
|
rs1595246385
|
|
NM_000153.4(GALC):c.674dup (p.Ser226fs)
|
rs1886496591
|
|
NM_000153.4(GALC):c.675A>G (p.Ala225=)
|
rs1172670344
|
|
NM_000153.4(GALC):c.677del (p.Ser226fs)
|
|
|
NM_000153.4(GALC):c.678T>C (p.Ser226=)
|
rs1595226323
|
|
NM_000153.4(GALC):c.679G>C (p.Asp227His)
|
|
|
NM_000153.4(GALC):c.67T>G (p.Ser23Ala)
|
|
|
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)
|
rs1886495923
|
|
NM_000153.4(GALC):c.682A>G (p.Asn228Asp)
|
rs2140016299
|
|
NM_000153.4(GALC):c.683_694delinsCTC (p.Asn228_Ser232delinsThrPro)
|
rs2140016243
|
|
NM_000153.4(GALC):c.688_694del (p.Trp230fs)
|
rs780376041
|
|
NM_000153.4(GALC):c.68C>T (p.Ser23Leu)
|
|
|
NM_000153.4(GALC):c.691G>A (p.Glu231Lys)
|
rs542231350
|
|
NM_000153.4(GALC):c.691del (p.Glu231fs)
|
|
|
NM_000153.4(GALC):c.693G>C (p.Glu231Asp)
|
|
|
NM_000153.4(GALC):c.693G>T (p.Glu231Asp)
|
|
|
NM_000153.4(GALC):c.695C>G (p.Ser232Cys)
|
|
|
NM_000153.4(GALC):c.696C>T (p.Ser232=)
|
|
|
NM_000153.4(GALC):c.69G>A (p.Ser23=)
|
|
|
NM_000153.4(GALC):c.69G>C (p.Ser23=)
|
rs763851570
|
|
NM_000153.4(GALC):c.69G>T (p.Ser23=)
|
rs763851570
|
|
NM_000153.4(GALC):c.705A>T (p.Ala235=)
|
rs771534115
|
|
NM_000153.4(GALC):c.709A>G (p.Met237Val)
|
|
|
NM_000153.4(GALC):c.714C>G (p.Leu238=)
|
|
|
NM_000153.4(GALC):c.718G>A (p.Asp240Asn)
|
rs2140016138
|
|
NM_000153.4(GALC):c.719A>G (p.Asp240Gly)
|
|
|
NM_000153.4(GALC):c.71C>G (p.Ala24Gly)
|
|
|
NM_000153.4(GALC):c.724G>A (p.Glu242Lys)
|
|
|
NM_000153.4(GALC):c.72G>C (p.Ala24=)
|
rs1184434539
|
|
NM_000153.4(GALC):c.739G>T (p.Val247Phe)
|
rs2140016089
|
|
NM_000153.4(GALC):c.744T>C (p.Asp248=)
|
|
|
NM_000153.4(GALC):c.750A>G (p.Ile250Met)
|
rs2140016054
|
|
NM_000153.4(GALC):c.752+10G>A
|
rs2140016029
|
|
NM_000153.4(GALC):c.752+1G>A
|
rs2140016050
|
|
NM_000153.4(GALC):c.752+8A>C
|
rs750292340
|
|
NM_000153.4(GALC):c.752+8A>G
|
rs750292340
|
|
NM_000153.4(GALC):c.753-12T>G
|
|
|
NM_000153.4(GALC):c.753-13T>C
|
|
|
NM_000153.4(GALC):c.753-13T>G
|
|
|
NM_000153.4(GALC):c.753-13_753-12dup
|
rs533067313
|
|
NM_000153.4(GALC):c.753-14C>T
|
|
|
NM_000153.4(GALC):c.753-17A>C
|
|
|
NM_000153.4(GALC):c.753-4dup
|
|
|
NM_000153.4(GALC):c.753-5T>G
|
|
|
NM_000153.4(GALC):c.753-5del
|
rs533067313
|
|
NM_000153.4(GALC):c.753-5dup
|
rs533067313
|
|
NM_000153.4(GALC):c.753-6T>C
|
|
|
NM_000153.4(GALC):c.753-7T>A
|
|
|
NM_000153.4(GALC):c.753-7T>G
|
rs2140001828
|
|
NM_000153.4(GALC):c.753-9T>C
|
rs2140001838
|
|
NM_000153.4(GALC):c.754G>C (p.Ala252Pro)
|
rs866358110
|
|
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
|
|
|
NM_000153.4(GALC):c.758A>G (p.His253Arg)
|
|
|
NM_000153.4(GALC):c.75C>T (p.Gly25=)
|
rs111976362
|
|
NM_000153.4(GALC):c.764C>A (p.Pro255His)
|
rs1886148366
|
|
NM_000153.4(GALC):c.764C>G (p.Pro255Arg)
|
rs1886148366
|
|
NM_000153.4(GALC):c.773A>C (p.His258Pro)
|
|
|
NM_000153.4(GALC):c.77G>A (p.Arg26His)
|
|
|
NM_000153.4(GALC):c.782_783dup (p.Asp262fs)
|
rs2140001750
|
|
NM_000153.4(GALC):c.786T>C (p.Asp262=)
|
|
|
NM_000153.4(GALC):c.789A>C (p.Ala263=)
|
|
|
NM_000153.4(GALC):c.789A>G (p.Ala263=)
|
rs1886147283
|
|
NM_000153.4(GALC):c.792G>A (p.Lys264=)
|
|
|
NM_000153.4(GALC):c.797C>T (p.Thr266Ile)
|
rs867226993
|
|
NM_000153.4(GALC):c.79G>T (p.Ala27Ser)
|
|
|
NM_000153.4(GALC):c.7dup (p.Glu3fs)
|
rs1555384381
|
|
NM_000153.4(GALC):c.801G>A (p.Gly267=)
|
|
|
NM_000153.4(GALC):c.801G>C (p.Gly267=)
|
|
|
NM_000153.4(GALC):c.80_84dup (p.Val29fs)
|
|
|
NM_000153.4(GALC):c.815C>T (p.Ser272Phe)
|
|
|
NM_000153.4(GALC):c.81C>G (p.Ala27=)
|
rs759433028
|
|
NM_000153.4(GALC):c.821A>C (p.Glu274Ala)
|
rs2140001660
|
|
NM_000153.4(GALC):c.822A>C (p.Glu274Asp)
|
|
|
NM_000153.4(GALC):c.824A>G (p.Asp275Gly)
|
|
|
NM_000153.4(GALC):c.827_828del (p.Asp275_Phe276insTer)
|
rs1555381958
|
|
NM_000153.4(GALC):c.82G>T (p.Ala28Ser)
|
|
|
NM_000153.4(GALC):c.830G>A (p.Ser277Asn)
|
rs1886145312
|
|
NM_000153.4(GALC):c.832A>C (p.Thr278Pro)
|
rs886042645
|
|
NM_000153.4(GALC):c.832A>G (p.Thr278Ala)
|
rs886042645
|
|
NM_000153.4(GALC):c.83C>T (p.Ala28Val)
|
|
|
NM_000153.4(GALC):c.840T>C (p.Asn280=)
|
|
|
NM_000153.4(GALC):c.846C>T (p.Asp282=)
|
|
|
NM_000153.4(GALC):c.847A>G (p.Met283Val)
|
rs2140001597
|
|
NM_000153.4(GALC):c.848T>C (p.Met283Thr)
|
|
|
NM_000153.4(GALC):c.851G>A (p.Gly284Asp)
|
|
|
NM_000153.4(GALC):c.851del (p.Gly284fs)
|
|
|
NM_000153.4(GALC):c.855A>G (p.Ala285=)
|
|
|
NM_000153.4(GALC):c.856G>C (p.Gly286Arg)
|
|
|
NM_000153.4(GALC):c.85G>A (p.Val29Met)
|
|
|
NM_000153.4(GALC):c.860G>A (p.Cys287Tyr)
|
rs769433488
|
|
NM_000153.4(GALC):c.862T>C (p.Trp288Arg)
|
rs398123177
|
|
NM_000153.4(GALC):c.866dup (p.Arg290fs)
|
rs2140001505
|
|
NM_000153.4(GALC):c.868C>A (p.Arg290Ser)
|
|
|
NM_000153.4(GALC):c.86T>G (p.Val29Gly)
|
|
|
NM_000153.4(GALC):c.870C>A (p.Arg290=)
|
|
|
NM_000153.4(GALC):c.870C>T (p.Arg290=)
|
|
|
NM_000153.4(GALC):c.87G>T (p.Val29=)
|
|
|
NM_000153.4(GALC):c.884A>C (p.Asn295Thr)
|
rs746922378
|
|
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)
|
rs746922378
|
|
NM_000153.4(GALC):c.894T>C (p.Asn298=)
|
|
|
NM_000153.4(GALC):c.896G>A (p.Gly299Asp)
|
rs1566993126
|
|
NM_000153.4(GALC):c.896_897delinsAG (p.Gly299Glu)
|
rs2140001432
|
|
NM_000153.4(GALC):c.897C>G (p.Gly299=)
|
rs2140001425
|
|
NM_000153.4(GALC):c.8A>G (p.Glu3Gly)
|
|
|
NM_000153.4(GALC):c.8A>T (p.Glu3Val)
|
rs2139770080
|
|
NM_000153.4(GALC):c.900T>C (p.Tyr300=)
|
rs2140001415
|
|
NM_000153.4(GALC):c.905C>T (p.Thr302Ile)
|
|
|
NM_000153.4(GALC):c.908+10T>G
|
|
|
NM_000153.4(GALC):c.908+11A>G
|
|
|
NM_000153.4(GALC):c.908+11A>T
|
|
|
NM_000153.4(GALC):c.908+12A>G
|
|
|
NM_000153.4(GALC):c.908+17C>G
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NM_000153.4(GALC):c.908+17C>T
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NM_000153.4(GALC):c.908+1G>T
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rs750524447
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NM_000153.4(GALC):c.908+20T>C
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NM_000153.4(GALC):c.909-10A>T
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rs398123178
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NM_000153.4(GALC):c.909-12C>G
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NM_000153.4(GALC):c.909-19T>C
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NM_000153.4(GALC):c.909-20T>A
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NM_000153.4(GALC):c.909-3del
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rs1212915595
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NM_000153.4(GALC):c.909-6T>C
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NM_000153.4(GALC):c.909-7C>A
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NM_000153.4(GALC):c.909-9A>C
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rs2139996587
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NM_000153.4(GALC):c.90C>G (p.Pro30=)
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rs2139769557
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NM_000153.4(GALC):c.90C>T (p.Pro30=)
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NM_000153.4(GALC):c.911C>T (p.Thr304Ile)
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NM_000153.4(GALC):c.918A>G (p.Ala306=)
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NM_000153.4(GALC):c.918A>T (p.Ala306=)
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rs2139996507
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NM_000153.4(GALC):c.92T>C (p.Leu31Ser)
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NM_000153.4(GALC):c.933T>C (p.Ala311=)
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rs1291467359
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NM_000153.4(GALC):c.938A>G (p.Tyr313Cys)
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NM_000153.4(GALC):c.940T>C (p.Tyr314His)
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rs2139996434
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NM_000153.4(GALC):c.940_1005del (p.Tyr314_Tyr335del)
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NM_000153.4(GALC):c.941A>G (p.Tyr314Cys)
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rs1595215209
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NM_000153.4(GALC):c.942T>C (p.Tyr314=)
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NM_000153.4(GALC):c.943del (p.Glu315fs)
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rs1886008578
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NM_000153.4(GALC):c.945A>G (p.Glu315=)
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rs2139996403
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NM_000153.4(GALC):c.946C>T (p.Gln316Ter)
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rs776368825
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NM_000153.4(GALC):c.947_950dup (p.Pro318fs)
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rs2139996377
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NM_000153.4(GALC):c.94C>T (p.Leu32=)
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rs770807058
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NM_000153.4(GALC):c.951G>A (p.Leu317=)
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rs2139996371
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NM_000153.4(GALC):c.952C>G (p.Pro318Ala)
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rs1057516642
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NM_000153.4(GALC):c.953C>G (p.Pro318Arg)
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rs387906954
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NM_000153.4(GALC):c.953C>T (p.Pro318Leu)
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NM_000153.4(GALC):c.955del (p.Tyr319fs)
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rs786204454
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NM_000153.4(GALC):c.957T>A (p.Tyr319Ter)
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NM_000153.4(GALC):c.966C>T (p.Cys322=)
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NM_000153.4(GALC):c.967G>A (p.Gly323Arg)
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rs1472207768
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NM_000153.4(GALC):c.967G>T (p.Gly323Trp)
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rs1472207768
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NM_000153.4(GALC):c.969G>T (p.Gly323=)
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NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer)
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rs1057516808
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NM_000153.4(GALC):c.973A>G (p.Met325Val)
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rs772190761
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NM_000153.4(GALC):c.977C>T (p.Thr326Met)
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NM_000153.4(GALC):c.978G>C (p.Thr326=)
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NM_000153.4(GALC):c.97C>T (p.Leu33=)
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rs2139769518
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NM_000153.4(GALC):c.987G>A (p.Glu329=)
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rs2139996201
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NM_000153.4(GALC):c.991T>C (p.Trp331Arg)
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rs2139996182
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NM_000153.4(GALC):c.992_993insCT (p.Trp331fs)
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NM_000153.4(GALC):c.99G>C (p.Leu33=)
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rs1595246257
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NM_000153.4(GALC):c.9del (p.Glu3fs)
|
rs1555384380
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NM_000153.4:c.(1161+1_1162-1)_(*1718_?)del
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NM_000153.4:c.[1592G>A];[334A>G]
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NM_001201402.2(GALC):c.-120G>A
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NM_001201402.2(GALC):c.117+142A>G
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NM_001201402.2(GALC):c.62T>C (p.Ile21Thr)
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NM_001201402.2(GALC):c.81A>G (p.Lys27=)
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Single allele
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