NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000153.4(GALC):c.349A>G (p.Met117Val)
|
rs145580093
|
0.00057
|
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.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.332G>A (p.Gly111Asp)
|
rs746487628
|
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.1671-1G>A
|
rs1182103005
|
0.00002
|
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
NM_000153.4(GALC):c.430del (p.Ile144fs)
|
rs775277935
|
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.1004A>G (p.Tyr335Cys)
|
rs757407613
|
0.00001
|
NM_000153.4(GALC):c.1244G>A (p.Gly415Glu)
|
rs1365128831
|
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.1723_1724insT (p.Gly575fs)
|
rs1405488688
|
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.205C>T (p.Arg69Ter)
|
rs771111145
|
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.379C>T (p.Arg127Ter)
|
rs200532368
|
0.00001
|
NM_000153.4(GALC):c.461C>A (p.Pro154His)
|
rs758557526
|
0.00001
|
NM_000153.4(GALC):c.489G>A (p.Trp163Ter)
|
rs761550284
|
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.863G>A (p.Trp288Ter)
|
rs372621124
|
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.982C>T (p.Gln328Ter)
|
rs1337518083
|
0.00001
|
GRCh37/hg19 14q31.3(chr14:88391502-88423172)
|
|
|
GRCh37/hg19 14q31.3(chr14:88399828-88422607)
|
|
|
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.(?_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)_(87950768_?)del
|
|
|
NC_000014.9:g.(?_87934720)_(87950758_?)del
|
|
|
NC_000014.9:g.(?_87963374)_(87963521_?)del
|
|
|
NC_000014.9:g.(?_87968315)_(87968510_?)del
|
|
|
NC_000014.9:g.(?_87992960)_(87993627_?)del
|
|
|
NC_000014.9:g.87925163_87956828del
|
|
|
NM_000153.4(GALC):c.1012del (p.Glu338fs)
|
rs1057516469
|
|
NM_000153.4(GALC):c.1021del (p.Val341fs)
|
rs1057517382
|
|
NM_000153.4(GALC):c.102_103delinsAT (p.Cys34_Ala35delinsTer)
|
rs2139769498
|
|
NM_000153.4(GALC):c.1068T>G (p.Tyr356Ter)
|
|
|
NM_000153.4(GALC):c.1075_1084del (p.Lys359fs)
|
rs1555381439
|
|
NM_000153.4(GALC):c.1083dup (p.Gly362fs)
|
rs767236077
|
|
NM_000153.4(GALC):c.1102G>T (p.Gly368Ter)
|
|
|
NM_000153.4(GALC):c.1123_1129dup (p.Leu377Ter)
|
|
|
NM_000153.4(GALC):c.112dup (p.Ala38fs)
|
|
|
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.1171_1175delinsA (p.His391fs)
|
rs1885269233
|
|
NM_000153.4(GALC):c.1174del (p.Ser392fs)
|
|
|
NM_000153.4(GALC):c.117del (p.Gly40fs)
|
|
|
NM_000153.4(GALC):c.11G>A (p.Trp4Ter)
|
|
|
NM_000153.4(GALC):c.11_14dup (p.Leu6fs)
|
|
|
NM_000153.4(GALC):c.121G>A (p.Gly41Ser)
|
rs387906955
|
|
NM_000153.4(GALC):c.1230del (p.Phe411fs)
|
|
|
NM_000153.4(GALC):c.1251+5G>C
|
|
|
NM_000153.4(GALC):c.1252-1G>C
|
rs2139961690
|
|
NM_000153.4(GALC):c.1270C>T (p.Gln424Ter)
|
rs2139961653
|
|
NM_000153.4(GALC):c.1273del (p.Val425fs)
|
rs1057516394
|
|
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.1297_1298insT (p.Thr433fs)
|
|
|
NM_000153.4(GALC):c.1297dup (p.Thr433fs)
|
|
|
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.1339-1G>T
|
rs1885138493
|
|
NM_000153.4(GALC):c.1361dup (p.Thr455fs)
|
|
|
NM_000153.4(GALC):c.1367_1368del (p.Leu456fs)
|
rs2139956734
|
|
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile)
|
rs1566974586
|
|
NM_000153.4(GALC):c.1411_1432del (p.Thr471fs)
|
rs2139956480
|
|
NM_000153.4(GALC):c.1433del (p.Pro478fs)
|
rs2139956468
|
|
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.1465dup (p.Thr489fs)
|
rs2139956343
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1472del (p.Lys491fs)
|
rs771489305
|
|
NM_000153.4(GALC):c.1489+1G>A
|
rs2139956292
|
|
NM_000153.4(GALC):c.1489+1G>C
|
|
|
NM_000153.4(GALC):c.1507G>T (p.Glu503Ter)
|
|
|
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys)
|
rs794727116
|
|
NM_000153.4(GALC):c.1571del (p.Gly524fs)
|
|
|
NM_000153.4(GALC):c.1648dup (p.Ser550fs)
|
rs2139951107
|
|
NM_000153.4(GALC):c.1671-2A>G
|
|
|
NM_000153.4(GALC):c.1676del (p.Asn559fs)
|
|
|
NM_000153.4(GALC):c.1687_1688insTTTTATAA (p.Lys563delinsIleLeuTer)
|
|
|
NM_000153.4(GALC):c.1712dup (p.Pro571_Asp572insTer)
|
rs1555378701
|
|
NM_000153.4(GALC):c.1736_1739del (p.Ala579fs)
|
rs754668472
|
|
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
|
|
|
NM_000153.4(GALC):c.1762_1763del (p.Leu588fs)
|
rs751283440
|
|
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.1815dup (p.Arg606fs)
|
rs2139941246
|
|
NM_000153.4(GALC):c.1821dup (p.Thr608fs)
|
rs2139941220
|
|
NM_000153.4(GALC):c.1851del (p.Ile616_Tyr617insTer)
|
rs1057516433
|
|
NM_000153.4(GALC):c.1853del (p.Ala618fs)
|
rs2139937977
|
|
NM_000153.4(GALC):c.1872_1888del (p.Thr625fs)
|
rs1884764754
|
|
NM_000153.4(GALC):c.1878_1894del (p.Lys627fs)
|
|
|
NM_000153.4(GALC):c.1884del (p.Lys628fs)
|
rs1336726861
|
|
NM_000153.4(GALC):c.1884dup (p.Trp629fs)
|
rs1336726861
|
|
NM_000153.4(GALC):c.1887del (p.Trp629fs)
|
rs1884765073
|
|
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.1901del (p.Thr633_Leu634insTer)
|
rs1555378534
|
|
NM_000153.4(GALC):c.1911+1_1911+5del
|
rs777955784
|
|
NM_000153.4(GALC):c.1964del (p.Pro655fs)
|
rs2139925832
|
|
NM_000153.4(GALC):c.1987del (p.Trp663fs)
|
rs2139925729
|
|
NM_000153.4(GALC):c.19_20del (p.Ser7fs)
|
rs1887303860
|
|
NM_000153.4(GALC):c.2002A>C (p.Thr668Pro)
|
rs1884498480
|
|
NM_000153.4(GALC):c.2006_2009del (p.His669fs)
|
|
|
NM_000153.4(GALC):c.2029del (p.Asp677fs)
|
rs2139925574
|
|
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.2056T>C (p.Ter686Gln)
|
rs1406731723
|
|
NM_000153.4(GALC):c.210dup (p.Leu71fs)
|
rs1887064841
|
|
NM_000153.4(GALC):c.231_232del (p.Tyr78fs)
|
|
|
NM_000153.4(GALC):c.236G>A (p.Arg79His)
|
|
|
NM_000153.4(GALC):c.246A>G (p.Ile82Met)
|
|
|
NM_000153.4(GALC):c.255T>A (p.Tyr85Ter)
|
|
|
NM_000153.4(GALC):c.27del (p.Trp10fs)
|
rs2139769959
|
|
NM_000153.4(GALC):c.281del (p.Ser94fs)
|
rs2139758786
|
|
NM_000153.4(GALC):c.283_284del (p.Leu95fs)
|
rs2139758767
|
|
NM_000153.4(GALC):c.293del (p.Ile97_Leu98insTer)
|
|
|
NM_000153.4(GALC):c.293dup (p.Leu98fs)
|
rs757799254
|
|
NM_000153.4(GALC):c.29G>A (p.Trp10Ter)
|
rs2139769937
|
|
NM_000153.4(GALC):c.302_308dup (p.Gly104fs)
|
rs2139758703
|
|
NM_000153.4(GALC):c.328+1G>A
|
rs779701490
|
|
NM_000153.4(GALC):c.332del (p.Gly111fs)
|
rs2139755093
|
|
NM_000153.4(GALC):c.349A>T (p.Met117Leu)
|
rs145580093
|
|
NM_000153.4(GALC):c.37C>T (p.Arg13Ter)
|
rs1173602413
|
|
NM_000153.4(GALC):c.387C>G (p.Tyr129Ter)
|
rs1240965365
|
|
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.408del (p.Ala137fs)
|
|
|
NM_000153.4(GALC):c.411_413del (p.Lys139del)
|
rs1555383687
|
|
NM_000153.4(GALC):c.432_433dup (p.Thr145fs)
|
rs2139754606
|
|
NM_000153.4(GALC):c.433dup (p.Thr145fs)
|
rs1555383679
|
|
NM_000153.4(GALC):c.442+1G>A
|
rs1886976159
|
|
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.488G>A (p.Trp163Ter)
|
|
|
NM_000153.4(GALC):c.498del (p.Asn167fs)
|
rs1886886241
|
|
NM_000153.4(GALC):c.505C>T (p.Gln169Ter)
|
rs2139749699
|
|
NM_000153.4(GALC):c.516_517del (p.Tyr173fs)
|
|
|
NM_000153.4(GALC):c.521del (p.Tyr174fs)
|
rs1555383517
|
|
NM_000153.4(GALC):c.533G>A (p.Trp178Ter)
|
rs968905231
|
|
NM_000153.4(GALC):c.542del (p.Gly181fs)
|
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.583-1G>C
|
rs1555383310
|
|
NM_000153.4(GALC):c.583-2A>G
|
|
|
NM_000153.4(GALC):c.599C>A (p.Ser200Ter)
|
rs786204618
|
|
NM_000153.4(GALC):c.620del (p.Lys207fs)
|
|
|
NM_000153.4(GALC):c.621G>A (p.Lys207=)
|
rs1428763453
|
|
NM_000153.4(GALC):c.645del (p.Gln216fs)
|
|
|
NM_000153.4(GALC):c.655C>T (p.Gln219Ter)
|
|
|
NM_000153.4(GALC):c.658C>T (p.Arg220Ter)
|
rs766310671
|
|
NM_000153.4(GALC):c.674dup (p.Ser226fs)
|
rs1886496591
|
|
NM_000153.4(GALC):c.677del (p.Ser226fs)
|
|
|
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.691del (p.Glu231fs)
|
|
|
NM_000153.4(GALC):c.782_783dup (p.Asp262fs)
|
rs2140001750
|
|
NM_000153.4(GALC):c.7dup (p.Glu3fs)
|
rs1555384381
|
|
NM_000153.4(GALC):c.80_84dup (p.Val29fs)
|
|
|
NM_000153.4(GALC):c.821A>C (p.Glu274Ala)
|
rs2140001660
|
|
NM_000153.4(GALC):c.860G>A (p.Cys287Tyr)
|
rs769433488
|
|
NM_000153.4(GALC):c.866dup (p.Arg290fs)
|
rs2140001505
|
|
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)
|
rs746922378
|
|
NM_000153.4(GALC):c.911C>T (p.Thr304Ile)
|
|
|
NM_000153.4(GALC):c.940_1005del (p.Tyr314_Tyr335del)
|
|
|
NM_000153.4(GALC):c.941A>G (p.Tyr314Cys)
|
rs1595215209
|
|
NM_000153.4(GALC):c.946C>T (p.Gln316Ter)
|
rs776368825
|
|
NM_000153.4(GALC):c.947_950dup (p.Pro318fs)
|
rs2139996377
|
|
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.955del (p.Tyr319fs)
|
rs786204454
|
|
NM_000153.4(GALC):c.967G>A (p.Gly323Arg)
|
rs1472207768
|
|
NM_000153.4(GALC):c.967G>T (p.Gly323Trp)
|
rs1472207768
|
|
NM_000153.4(GALC):c.972del (p.Leu324_Met325insTer)
|
rs1057516808
|
|
NM_000153.4(GALC):c.9del (p.Glu3fs)
|
rs1555384380
|
|