NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
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.195G>C (p.Gly65=)
|
rs886042057
|
0.00010
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_000153.4(GALC):c.265-2A>G
|
rs199710405
|
0.00006
|
NM_000153.4(GALC):c.1592G>A (p.Arg531His)
|
rs200378205
|
0.00004
|
NM_000153.4(GALC):c.2041G>A (p.Val681Met)
|
rs200607029
|
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.388G>A (p.Glu130Lys)
|
rs374635469
|
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.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
NM_000153.4(GALC):c.391T>C (p.Trp131Arg)
|
rs746507078
|
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.1174T>C (p.Ser392Pro)
|
rs1200769534
|
0.00001
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000153.4(GALC):c.1252-2A>G
|
rs1166863449
|
0.00001
|
NM_000153.4(GALC):c.129C>G (p.Tyr43Ter)
|
rs1057516816
|
0.00001
|
NM_000153.4(GALC):c.1400C>A (p.Thr467Asn)
|
rs750431739
|
0.00001
|
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser)
|
rs375867319
|
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.1898C>T (p.Thr633Met)
|
rs766762599
|
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.195+1G>A
|
rs1009872980
|
0.00001
|
NM_000153.4(GALC):c.205C>T (p.Arg69Ter)
|
rs771111145
|
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.331G>A (p.Gly111Ser)
|
rs756690487
|
0.00001
|
NM_000153.4(GALC):c.3G>A (p.Met1Ile)
|
rs758685128
|
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.621+1G>A
|
rs759511006
|
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.869G>A (p.Arg290His)
|
rs746806459
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NC_000014.9:g.(?_87934712)_(87949951_?)del
|
|
|
NC_000014.9:g.(?_87949835)_(87949941_?)del
|
|
|
NC_000014.9:g.(?_87963374)_(87963521_?)dup
|
|
|
NC_000014.9:g.(?_87965495)_(87968500_?)dup
|
|
|
NC_000014.9:g.87925163_87956828del
|
|
|
NM_000153.3(GALC):c.243_244dup (p.Ile82Argfs)
|
rs886043419
|
|
NM_000153.4(GALC):c.1012del (p.Glu338fs)
|
rs1057516469
|
|
NM_000153.4(GALC):c.1021del (p.Val341fs)
|
rs1057517382
|
|
NM_000153.4(GALC):c.1031C>A (p.Ser344Ter)
|
|
|
NM_000153.4(GALC):c.1033+1G>A
|
rs2139996044
|
|
NM_000153.4(GALC):c.1034-1G>C
|
|
|
NM_000153.4(GALC):c.1034-2A>G
|
|
|
NM_000153.4(GALC):c.1065G>A (p.Trp355Ter)
|
rs1057516270
|
|
NM_000153.4(GALC):c.110_123dup (p.Ala42fs)
|
rs1555384342
|
|
NM_000153.4(GALC):c.1151T>A (p.Ile384Asn)
|
|
|
NM_000153.4(GALC):c.1161+1del
|
rs1555381417
|
|
NM_000153.4(GALC):c.1161+2T>A
|
|
|
NM_000153.4(GALC):c.1162-1G>A
|
|
|
NM_000153.4(GALC):c.1168A>T (p.Lys390Ter)
|
|
|
NM_000153.4(GALC):c.1178del (p.Lys393fs)
|
|
|
NM_000153.4(GALC):c.1185dup (p.Arg396fs)
|
rs1885268471
|
|
NM_000153.4(GALC):c.1240A>T (p.Lys414Ter)
|
|
|
NM_000153.4(GALC):c.1251+1del
|
|
|
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.129C>A (p.Tyr43Ter)
|
rs1057516816
|
|
NM_000153.4(GALC):c.1338+1G>C
|
rs1555379669
|
|
NM_000153.4(GALC):c.1338+1G>T
|
rs1555379669
|
|
NM_000153.4(GALC):c.1365_1366del (p.Leu456fs)
|
|
|
NM_000153.4(GALC):c.136G>C (p.Asp46His)
|
rs751975987
|
|
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile)
|
rs1566974586
|
|
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)
|
rs750431739
|
|
NM_000153.4(GALC):c.141_143delinsG (p.Asp47fs)
|
rs1555384335
|
|
NM_000153.4(GALC):c.1420A>T (p.Lys474Ter)
|
|
|
NM_000153.4(GALC):c.1426dup (p.Ser476fs)
|
rs1057517082
|
|
NM_000153.4(GALC):c.1437dup (p.Pro480fs)
|
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1469A>G (p.Tyr490Cys)
|
|
|
NM_000153.4(GALC):c.155del (p.Gly52fs)
|
rs1064793131
|
|
NM_000153.4(GALC):c.1592G>T (p.Arg531Leu)
|
rs200378205
|
|
NM_000153.4(GALC):c.1613delinsACTCAGCAG (p.Pro538fs)
|
|
|
NM_000153.4(GALC):c.1623G>A (p.Trp541Ter)
|
|
|
NM_000153.4(GALC):c.1670+1G>A
|
rs749597090
|
|
NM_000153.4(GALC):c.1670+1G>T
|
rs749597090
|
|
NM_000153.4(GALC):c.1685T>A (p.Ile562Lys)
|
|
|
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly)
|
rs1595190129
|
|
NM_000153.4(GALC):c.169G>C (p.Gly57Arg)
|
rs11623
|
|
NM_000153.4(GALC):c.169G>T (p.Gly57Cys)
|
rs11623
|
|
NM_000153.4(GALC):c.170G>A (p.Gly57Asp)
|
|
|
NM_000153.4(GALC):c.170G>T (p.Gly57Val)
|
rs1217139658
|
|
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer)
|
rs1555378701
|
|
NM_000153.4(GALC):c.1717dup (p.Thr573fs)
|
|
|
NM_000153.4(GALC):c.1736C>A (p.Ala579Glu)
|
rs1423625765
|
|
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.175G>A (p.Gly59Ser)
|
rs764757647
|
|
NM_000153.4(GALC):c.175G>T (p.Gly59Cys)
|
|
|
NM_000153.4(GALC):c.1763del (p.Ile587_Leu588insTer)
|
rs751283440
|
|
NM_000153.4(GALC):c.1781G>T (p.Gly594Val)
|
rs2139941367
|
|
NM_000153.4(GALC):c.1829A>C (p.Asp610Ala)
|
rs754732860
|
|
NM_000153.4(GALC):c.1834+1G>A
|
|
|
NM_000153.4(GALC):c.1835-1G>A
|
rs1555378562
|
|
NM_000153.4(GALC):c.1837G>T (p.Gly613Ter)
|
rs1057517033
|
|
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer)
|
rs1057516433
|
|
NM_000153.4(GALC):c.1859G>C (p.Gly620Ala)
|
|
|
NM_000153.4(GALC):c.1882A>T (p.Lys628Ter)
|
|
|
NM_000153.4(GALC):c.1884dup (p.Trp629fs)
|
rs1336726861
|
|
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.1898C>G (p.Thr633Arg)
|
rs766762599
|
|
NM_000153.4(GALC):c.1901del (p.Thr633_Leu634insTer)
|
rs1555378534
|
|
NM_000153.4(GALC):c.190_195+9del
|
rs1057517187
|
|
NM_000153.4(GALC):c.1911+1_1911+5del
|
rs777955784
|
|
NM_000153.4(GALC):c.1912-1G>C
|
rs1555377947
|
|
NM_000153.4(GALC):c.193G>T (p.Gly65Trp)
|
rs1887277350
|
|
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)
|
rs1884501856
|
|
NM_000153.4(GALC):c.195+1G>C
|
rs1009872980
|
|
NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)
|
|
|
NM_000153.4(GALC):c.196G>A (p.Ala66Thr)
|
rs1057518843
|
|
NM_000153.4(GALC):c.1978A>T (p.Lys660Ter)
|
rs762034337
|
|
NM_000153.4(GALC):c.199A>C (p.Thr67Pro)
|
rs2139759522
|
|
NM_000153.4(GALC):c.1A>G (p.Met1Val)
|
rs1555384382
|
|
NM_000153.4(GALC):c.2002A>G (p.Thr668Ala)
|
rs1884498480
|
|
NM_000153.4(GALC):c.200C>A (p.Thr67Asn)
|
|
|
NM_000153.4(GALC):c.200C>T (p.Thr67Ile)
|
rs1478697086
|
|
NM_000153.4(GALC):c.203C>T (p.Ser68Phe)
|
rs1555383892
|
|
NM_000153.4(GALC):c.2042T>C (p.Val681Ala)
|
|
|
NM_000153.4(GALC):c.2042T>G (p.Val681Gly)
|
|
|
NM_000153.4(GALC):c.222C>G (p.Tyr74Ter)
|
rs959445153
|
|
NM_000153.4(GALC):c.236G>C (p.Arg79Pro)
|
|
|
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.284dup (p.Leu95fs)
|
|
|
NM_000153.4(GALC):c.2T>C (p.Met1Thr)
|
rs780972896
|
|
NM_000153.4(GALC):c.316G>A (p.Gly106Arg)
|
|
|
NM_000153.4(GALC):c.329-1G>A
|
rs1365632054
|
|
NM_000153.4(GALC):c.329-2A>G
|
rs2139755114
|
|
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.371_372insCATTGCAAACT (p.Tyr125fs)
|
|
|
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.403A>T (p.Lys135Ter)
|
|
|
NM_000153.4(GALC):c.411_413del (p.Lys139del)
|
rs1555383687
|
|
NM_000153.4(GALC):c.415A>T (p.Lys139Ter)
|
rs1057516673
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
NM_000153.4(GALC):c.442+2T>G
|
rs1057516632
|
|
NM_000153.4(GALC):c.443-1G>C
|
rs1886890531
|
|
NM_000153.4(GALC):c.443-2A>G
|
rs1595236714
|
|
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)
|
rs745620101
|
|
NM_000153.4(GALC):c.467_468dup (p.Leu157fs)
|
rs1057517185
|
|
NM_000153.4(GALC):c.49_50del (p.Met17fs)
|
rs1555384360
|
|
NM_000153.4(GALC):c.521del (p.Tyr174fs)
|
rs1555383517
|
|
NM_000153.4(GALC):c.533G>A (p.Trp178Ter)
|
rs968905231
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)
|
rs1555383498
|
|
NM_000153.4(GALC):c.582+1G>C
|
|
|
NM_000153.4(GALC):c.582+2T>C
|
|
|
NM_000153.4(GALC):c.583-1G>C
|
rs1555383310
|
|
NM_000153.4(GALC):c.591dup (p.Glu198Ter)
|
rs1555383308
|
|
NM_000153.4(GALC):c.593A>C (p.Glu198Ala)
|
|
|
NM_000153.4(GALC):c.599C>A (p.Ser200Ter)
|
rs786204618
|
|
NM_000153.4(GALC):c.621+5G>A
|
rs1555383306
|
|
NM_000153.4(GALC):c.646_647del (p.Gln216fs)
|
|
|
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)
|
rs766310671
|
|
NM_000153.4(GALC):c.65_74del (p.Gly22fs)
|
rs1595246385
|
|
NM_000153.4(GALC):c.680A>G (p.Asp227Gly)
|
rs1886495923
|
|
NM_000153.4(GALC):c.739G>T (p.Val247Phe)
|
rs2140016089
|
|
NM_000153.4(GALC):c.752+1G>A
|
rs2140016050
|
|
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
|
|
|
NM_000153.4(GALC):c.764C>A (p.Pro255His)
|
rs1886148366
|
|
NM_000153.4(GALC):c.7dup (p.Glu3fs)
|
rs1555384381
|
|
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.830G>A (p.Ser277Asn)
|
rs1886145312
|
|
NM_000153.4(GALC):c.851G>A (p.Gly284Asp)
|
|
|
NM_000153.4(GALC):c.851del (p.Gly284fs)
|
|
|
NM_000153.4(GALC):c.856G>C (p.Gly286Arg)
|
|
|
NM_000153.4(GALC):c.868C>A (p.Arg290Ser)
|
|
|
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.896G>A (p.Gly299Asp)
|
rs1566993126
|
|
NM_000153.4(GALC):c.908+1G>T
|
rs750524447
|
|
NM_000153.4(GALC):c.940T>C (p.Tyr314His)
|
rs2139996434
|
|
NM_000153.4(GALC):c.946C>T (p.Gln316Ter)
|
rs776368825
|
|
NM_000153.4(GALC):c.952C>G (p.Pro318Ala)
|
rs1057516642
|
|
NM_000153.4(GALC):c.953C>G (p.Pro318Arg)
|
rs387906954
|
|
NM_000153.4(GALC):c.953C>T (p.Pro318Leu)
|
|
|
NM_000153.4(GALC):c.955del (p.Tyr319fs)
|
rs786204454
|
|
NM_000153.4(GALC):c.957T>A (p.Tyr319Ter)
|
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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.992_993insCT (p.Trp331fs)
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NM_000153.4(GALC):c.9del (p.Glu3fs)
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rs1555384380
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NM_018418.5(SPATA7):c.239-522_239-436del
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