NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)
|
rs820878
|
0.97243
|
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val)
|
rs1800431
|
0.87890
|
NM_000520.6(HEXA):c.1518A>G (p.Glu506=)
|
rs4777502
|
0.87885
|
NM_000405.5(GM2A):c.205A>G (p.Met69Val)
|
rs153478
|
0.73795
|
NM_000405.5(GM2A):c.175A>G (p.Ile59Val)
|
rs153477
|
0.62259
|
NM_000521.4(HEXB):c.-126C>T
|
rs71627068
|
0.55186
|
NM_000521.4(HEXB):c.-122del
|
rs70976124
|
0.55177
|
NM_000405.5(GM2A):c.582A>G (p.Ter194=)
|
rs1048723
|
0.23979
|
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg)
|
rs11556045
|
0.20835
|
NM_000521.4(HEXB):c.619A>G (p.Ile207Val)
|
rs10805890
|
0.12644
|
NM_000405.5(GM2A):c.458T>C (p.Val153Ala)
|
rs61740602
|
0.07011
|
NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
NM_000405.5(GM2A):c.55G>A (p.Ala19Thr)
|
rs1048719
|
0.03595
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu)
|
rs820878
|
0.02757
|
NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)
|
rs148268937
|
0.00967
|
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val)
|
rs77499935
|
0.00923
|
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe)
|
rs147155126
|
0.00758
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
NM_000521.4(HEXB):c.276C>T (p.Thr92=)
|
rs140509633
|
0.00569
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)
|
rs121907970
|
0.00190
|
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg)
|
rs113678356
|
0.00177
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
NM_000520.6(HEXA):c.1146+8G>A
|
rs201453018
|
0.00167
|
NM_000520.6(HEXA):c.69C>G (p.Leu23=)
|
rs143554538
|
0.00107
|
NM_000520.6(HEXA):c.1107C>T (p.Gly369=)
|
rs140337137
|
0.00100
|
NM_000405.5(GM2A):c.33C>T (p.Ile11=)
|
rs143867953
|
0.00096
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_000521.4(HEXB):c.1082+13C>T
|
rs201428805
|
0.00080
|
NM_000521.4(HEXB):c.1417+11C>T
|
rs146572414
|
0.00062
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_000405.5(GM2A):c.126G>A (p.Gly42=)
|
rs113271740
|
0.00041
|
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr)
|
rs145012038
|
0.00038
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_000521.4(HEXB):c.1437A>C (p.Gln479His)
|
rs139129900
|
0.00034
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_000521.4(HEXB):c.918G>C (p.Leu306=)
|
rs140607282
|
0.00031
|
NM_000520.6(HEXA):c.1338T>C (p.Pro446=)
|
rs34085965
|
0.00029
|
NM_000405.5(GM2A):c.244G>C (p.Val82Leu)
|
rs139014924
|
0.00023
|
NM_000405.5(GM2A):c.506G>A (p.Arg169His)
|
rs104893892
|
0.00023
|
NM_000405.5(GM2A):c.575G>T (p.Gly192Val)
|
rs751291017
|
0.00023
|
NM_000405.5(GM2A):c.254T>G (p.Val85Gly)
|
rs143999954
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp)
|
rs138058578
|
0.00019
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)
|
rs148511084
|
0.00018
|
NM_000520.6(HEXA):c.517C>T (p.Leu173=)
|
rs200743199
|
0.00017
|
NM_000521.4(HEXB):c.299+7G>C
|
rs371930917
|
0.00017
|
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly)
|
rs761736583
|
0.00016
|
NM_000520.6(HEXA):c.582G>A (p.Ala194=)
|
rs112614306
|
0.00016
|
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr)
|
rs140627230
|
0.00016
|
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)
|
rs576145664
|
0.00016
|
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val)
|
rs151251788
|
0.00015
|
NM_000520.6(HEXA):c.1443C>T (p.Ala481=)
|
rs140091006
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn)
|
rs28365994
|
0.00013
|
NM_000521.4(HEXB):c.558+16A>G
|
rs191028207
|
0.00013
|
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln)
|
rs370266293
|
0.00012
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
NM_000521.4(HEXB):c.1536A>G (p.Arg512=)
|
rs139971120
|
0.00012
|
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg)
|
rs531151091
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
0.00011
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_000520.6(HEXA):c.548T>A (p.Leu183His)
|
rs185797496
|
0.00011
|
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys)
|
rs148199798
|
0.00011
|
NM_000521.4(HEXB):c.978G>C (p.Leu326=)
|
rs138261300
|
0.00011
|
NM_000520.6(HEXA):c.581C>T (p.Ala194Val)
|
rs778947516
|
0.00010
|
NM_000520.6(HEXA):c.1330+16T>G
|
rs371435283
|
0.00009
|
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser)
|
rs200936836
|
0.00009
|
NM_000520.6(HEXA):c.38C>T (p.Ala13Val)
|
rs145666272
|
0.00009
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
NM_000405.5(GM2A):c.517G>A (p.Val173Ile)
|
rs532003642
|
0.00008
|
NM_000520.6(HEXA):c.855C>T (p.Gly285=)
|
rs768518776
|
0.00008
|
NM_000521.4(HEXB):c.1279A>G (p.Ser427Gly)
|
rs749347602
|
0.00008
|
NM_000521.4(HEXB):c.216C>T (p.Leu72=)
|
rs780221860
|
0.00008
|
NM_000405.5(GM2A):c.563C>G (p.Ala188Gly)
|
rs761692942
|
0.00007
|
NM_000520.6(HEXA):c.102C>T (p.Asp34=)
|
rs377310315
|
0.00007
|
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met)
|
rs552505619
|
0.00007
|
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met)
|
rs760153692
|
0.00007
|
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys)
|
rs147502219
|
0.00007
|
NM_000405.5(GM2A):c.427-4G>A
|
rs761411485
|
0.00006
|
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp)
|
rs762494949
|
0.00006
|
NM_000520.6(HEXA):c.286G>A (p.Val96Ile)
|
rs868358306
|
0.00006
|
NM_000520.6(HEXA):c.764C>G (p.Ala255Gly)
|
rs370576428
|
0.00006
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_000521.4(HEXB):c.1269A>G (p.Val423=)
|
rs746407358
|
0.00006
|
NM_000520.6(HEXA):c.1146+9G>C
|
rs371023342
|
0.00005
|
NM_000520.6(HEXA):c.1421+4A>G
|
rs953579005
|
0.00005
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu)
|
rs371133961
|
0.00005
|
NM_000520.6(HEXA):c.888T>C (p.Asn296=)
|
rs752260651
|
0.00005
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_000521.4(HEXB):c.1251G>A (p.Pro417=)
|
rs144264311
|
0.00005
|
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)
|
rs770560389
|
0.00005
|
NM_000405.5(GM2A):c.138G>A (p.Ala46=)
|
rs147511920
|
0.00004
|
NM_000405.5(GM2A):c.177C>T (p.Ile59=)
|
rs745799277
|
0.00004
|
NM_000405.5(GM2A):c.82-15C>T
|
rs369106753
|
0.00004
|
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val)
|
rs771447407
|
0.00004
|
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser)
|
rs575121167
|
0.00004
|
NM_000520.6(HEXA):c.1421+17G>A
|
rs752975043
|
0.00004
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000520.6(HEXA):c.253+20C>T
|
rs772715699
|
0.00004
|
NM_000520.6(HEXA):c.347-15T>A
|
rs750626935
|
0.00004
|
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)
|
rs121907962
|
0.00004
|
NM_000520.6(HEXA):c.706G>A (p.Ala236Thr)
|
rs757119445
|
0.00004
|
NM_000520.6(HEXA):c.981C>T (p.Thr327=)
|
rs1271376611
|
0.00004
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000521.4(HEXB):c.1243-6T>C
|
rs759404927
|
0.00004
|
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser)
|
rs121907982
|
0.00004
|
NM_000521.4(HEXB):c.1374A>G (p.Gln458=)
|
rs200714672
|
0.00004
|
NM_000521.4(HEXB):c.1508+7G>A
|
rs1016425766
|
0.00004
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
NM_000521.4(HEXB):c.251A>G (p.Asn84Ser)
|
rs200209801
|
0.00004
|
NM_000521.4(HEXB):c.672T>C (p.Asp224=)
|
rs761223179
|
0.00004
|
NM_000405.5(GM2A):c.244-13T>G
|
rs772862761
|
0.00003
|
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys)
|
rs761084552
|
0.00003
|
NM_000405.5(GM2A):c.450C>T (p.Ser150=)
|
rs755569739
|
0.00003
|
NM_000520.6(HEXA):c.1073+18G>A
|
rs756371964
|
0.00003
|
NM_000520.6(HEXA):c.1073+4A>G
|
rs780502991
|
0.00003
|
NM_000520.6(HEXA):c.1074-20G>T
|
rs776333373
|
0.00003
|
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)
|
rs121907958
|
0.00003
|
NM_000520.6(HEXA):c.1266G>T (p.Leu422=)
|
rs373023700
|
0.00003
|
NM_000520.6(HEXA):c.1421+12C>T
|
rs200757264
|
0.00003
|
NM_000520.6(HEXA):c.1422-10T>C
|
rs747528877
|
0.00003
|
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)
|
rs1227959449
|
0.00003
|
NM_000520.6(HEXA):c.840G>A (p.Gly280=)
|
rs778823870
|
0.00003
|
NM_000521.4(HEXB):c.1281C>T (p.Ser427=)
|
rs140443258
|
0.00003
|
NM_000521.4(HEXB):c.1419T>C (p.Gly473=)
|
rs150778823
|
0.00003
|
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)
|
rs794727049
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000521.4(HEXB):c.633A>G (p.Arg211=)
|
rs750864626
|
0.00003
|
NM_000521.4(HEXB):c.657T>C (p.Ile219=)
|
rs141175812
|
0.00003
|
NM_000405.5(GM2A):c.496G>A (p.Gly166Arg)
|
rs764022955
|
0.00002
|
NM_000405.5(GM2A):c.516C>T (p.Ser172=)
|
rs754452771
|
0.00002
|
NM_000520.6(HEXA):c.1014T>C (p.Phe338=)
|
rs149121118
|
0.00002
|
NM_000520.6(HEXA):c.120C>T (p.Tyr40=)
|
rs762382202
|
0.00002
|
NM_000520.6(HEXA):c.1230C>T (p.Ala410=)
|
rs751185874
|
0.00002
|
NM_000520.6(HEXA):c.1256C>G (p.Pro419Arg)
|
rs772431056
|
0.00002
|
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu)
|
rs202173526
|
0.00002
|
NM_000520.6(HEXA):c.1421+1G>C
|
rs147324677
|
0.00002
|
NM_000520.6(HEXA):c.1421G>T (p.Trp474Leu)
|
rs762374961
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000520.6(HEXA):c.1557A>G (p.Val519=)
|
rs1327031567
|
0.00002
|
NM_000520.6(HEXA):c.1572G>A (p.Gln524=)
|
rs1389009140
|
0.00002
|
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)
|
rs573269641
|
0.00002
|
NM_000520.6(HEXA):c.297A>C (p.Val99=)
|
rs766640260
|
0.00002
|
NM_000520.6(HEXA):c.347-12C>T
|
rs761854464
|
0.00002
|
NM_000520.6(HEXA):c.459+18A>G
|
rs751790486
|
0.00002
|
NM_000520.6(HEXA):c.497G>A (p.Arg166His)
|
rs398123442
|
0.00002
|
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
|
rs121907953
|
0.00002
|
NM_000520.6(HEXA):c.571-1G>T
|
rs185429231
|
0.00002
|
NM_000520.6(HEXA):c.616G>A (p.Val206Ile)
|
rs543071358
|
0.00002
|
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr)
|
rs756218457
|
0.00002
|
NM_000520.6(HEXA):c.805+7A>G
|
rs758135123
|
0.00002
|
NM_000520.6(HEXA):c.906C>T (p.Ser302=)
|
rs765612435
|
0.00002
|
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu)
|
rs754108567
|
0.00002
|
NM_000521.4(HEXB):c.1083-14A>C
|
rs776536464
|
0.00002
|
NM_000521.4(HEXB):c.1418-5T>C
|
rs773772578
|
0.00002
|
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp)
|
rs751592419
|
0.00002
|
NM_000521.4(HEXB):c.1614-16_1615dup
|
rs1554037309
|
0.00002
|
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg)
|
rs398123448
|
0.00002
|
NM_000521.4(HEXB):c.174C>T (p.Pro58=)
|
rs769964813
|
0.00002
|
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys)
|
rs762209256
|
0.00002
|
NM_000521.4(HEXB):c.354C>T (p.Phe118=)
|
rs755175110
|
0.00002
|
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr)
|
rs779453450
|
0.00002
|
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)
|
rs1352786910
|
0.00002
|
NM_000405.5(GM2A):c.139G>A (p.Val47Met)
|
rs1269101684
|
0.00001
|
NM_000405.5(GM2A):c.13A>T (p.Met5Leu)
|
rs557461469
|
0.00001
|
NM_000405.5(GM2A):c.195C>T (p.Thr65=)
|
rs768523926
|
0.00001
|
NM_000405.5(GM2A):c.24C>T (p.Pro8=)
|
rs752323907
|
0.00001
|
NM_000405.5(GM2A):c.39G>A (p.Leu13=)
|
rs374161170
|
0.00001
|
NM_000405.5(GM2A):c.495C>T (p.Thr165=)
|
rs759623712
|
0.00001
|
NM_000405.5(GM2A):c.522G>C (p.Leu174=)
|
rs778176491
|
0.00001
|
NM_000405.5(GM2A):c.82-8G>C
|
rs376211344
|
0.00001
|
NM_000520.6(HEXA):c.1032C>T (p.Phe344=)
|
rs762704131
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.1047G>A (p.Lys349=)
|
rs746518979
|
0.00001
|
NM_000520.6(HEXA):c.1073+8A>T
|
rs2088641552
|
0.00001
|
NM_000520.6(HEXA):c.1086C>T (p.Ile362=)
|
rs749828204
|
0.00001
|
NM_000520.6(HEXA):c.1091C>T (p.Ser364Phe)
|
rs781611898
|
0.00001
|
NM_000520.6(HEXA):c.1092T>C (p.Ser364=)
|
rs757519934
|
0.00001
|
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg)
|
rs764291005
|
0.00001
|
NM_000520.6(HEXA):c.1116G>A (p.Val372=)
|
rs753609749
|
0.00001
|
NM_000520.6(HEXA):c.1146+16G>A
|
rs1297838415
|
0.00001
|
NM_000520.6(HEXA):c.1168del (p.Gln390fs)
|
rs772879726
|
0.00001
|
NM_000520.6(HEXA):c.1173G>A (p.Val391=)
|
rs575836910
|
0.00001
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
NM_000520.6(HEXA):c.1254C>T (p.Ala418=)
|
rs1248988558
|
0.00001
|
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val)
|
rs774562271
|
0.00001
|
NM_000520.6(HEXA):c.1271G>A (p.Arg424His)
|
rs535095877
|
0.00001
|
NM_000520.6(HEXA):c.1309G>A (p.Val437Met)
|
rs2088616485
|
0.00001
|
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro)
|
rs752223090
|
0.00001
|
NM_000520.6(HEXA):c.132T>G (p.Phe44Leu)
|
rs1304040097
|
0.00001
|
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro)
|
rs144089645
|
0.00001
|
NM_000520.6(HEXA):c.1359T>C (p.Ile453=)
|
rs113941121
|
0.00001
|
NM_000520.6(HEXA):c.1375A>G (p.Met459Val)
|
rs547192168
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)
|
rs745996955
|
0.00001
|
NM_000520.6(HEXA):c.140A>G (p.Gln47Arg)
|
rs1015834087
|
0.00001
|
NM_000520.6(HEXA):c.1421+13G>A
|
rs375201437
|
0.00001
|
NM_000520.6(HEXA):c.1422-7C>T
|
rs1204984002
|
0.00001
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
NM_000520.6(HEXA):c.1434G>C (p.Gly478=)
|
rs1343812879
|
0.00001
|
NM_000520.6(HEXA):c.1438G>A (p.Val480Ile)
|
rs370638338
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu)
|
rs1185080097
|
0.00001
|
NM_000520.6(HEXA):c.1477C>T (p.Leu493=)
|
rs774313739
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000520.6(HEXA):c.1526+12G>A
|
rs370449921
|
0.00001
|
NM_000520.6(HEXA):c.1527-10C>G
|
rs775281927
|
0.00001
|
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)
|
rs786204585
|
0.00001
|
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
|
rs745432499
|
0.00001
|
NM_000520.6(HEXA):c.1545A>G (p.Gln515=)
|
rs369398952
|
0.00001
|
NM_000520.6(HEXA):c.1548C>T (p.Pro516=)
|
rs1322003883
|
0.00001
|
NM_000520.6(HEXA):c.167C>T (p.Pro56Leu)
|
rs955535343
|
0.00001
|
NM_000520.6(HEXA):c.168C>T (p.Pro56=)
|
rs777515618
|
0.00001
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)
|
rs753442808
|
0.00001
|
NM_000520.6(HEXA):c.1A>G (p.Met1Val)
|
rs121907965
|
0.00001
|
NM_000520.6(HEXA):c.204T>C (p.Tyr68=)
|
rs2089056122
|
0.00001
|
NM_000520.6(HEXA):c.210C>T (p.Asp70=)
|
rs1377654671
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_000520.6(HEXA):c.237C>T (p.Pro79=)
|
rs763428989
|
0.00001
|
NM_000520.6(HEXA):c.241C>A (p.Pro81Thr)
|
rs144231599
|
0.00001
|
NM_000520.6(HEXA):c.253+1G>A
|
rs770093080
|
0.00001
|
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln)
|
rs766966378
|
0.00001
|
NM_000520.6(HEXA):c.275A>G (p.Lys92Arg)
|
rs1208872523
|
0.00001
|
NM_000520.6(HEXA):c.291C>T (p.Val97=)
|
rs776967919
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000520.6(HEXA):c.303A>G (p.Thr101=)
|
rs970894400
|
0.00001
|
NM_000520.6(HEXA):c.325A>T (p.Thr109Ser)
|
rs1269110075
|
0.00001
|
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro)
|
rs141120074
|
0.00001
|
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys)
|
rs774220090
|
0.00001
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
0.00001
|
NM_000520.6(HEXA):c.346+2dup
|
rs1430416918
|
0.00001
|
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe)
|
rs1282031681
|
0.00001
|
NM_000520.6(HEXA):c.357C>T (p.Thr119=)
|
rs1242269336
|
0.00001
|
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly)
|
rs1365750130
|
0.00001
|
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln)
|
rs917904407
|
0.00001
|
NM_000520.6(HEXA):c.393T>G (p.Thr131=)
|
rs763015329
|
0.00001
|
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln)
|
rs769724246
|
0.00001
|
NM_000520.6(HEXA):c.412+13G>A
|
rs1391540037
|
0.00001
|
NM_000520.6(HEXA):c.413-19C>T
|
rs2088734265
|
0.00001
|
NM_000520.6(HEXA):c.413-4C>T
|
rs373382175
|
0.00001
|
NM_000520.6(HEXA):c.460-8C>T
|
rs1437923865
|
0.00001
|
NM_000520.6(HEXA):c.48C>T (p.Phe16=)
|
rs772706192
|
0.00001
|
NM_000520.6(HEXA):c.503C>T (p.Pro168Leu)
|
rs1459050143
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
NM_000520.6(HEXA):c.536A>G (p.His179Arg)
|
rs747372270
|
0.00001
|
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp)
|
rs1166889033
|
0.00001
|
NM_000520.6(HEXA):c.570G>T (p.Leu190=)
|
rs1188885214
|
0.00001
|
NM_000520.6(HEXA):c.571-16G>A
|
rs771550714
|
0.00001
|
NM_000520.6(HEXA):c.571-19T>G
|
rs576601675
|
0.00001
|
NM_000520.6(HEXA):c.574G>A (p.Val192Ile)
|
rs387906310
|
0.00001
|
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser)
|
rs753862880
|
0.00001
|
NM_000520.6(HEXA):c.597C>T (p.Asn199=)
|
rs756010672
|
0.00001
|
NM_000520.6(HEXA):c.598G>A (p.Val200Met)
|
rs1800429
|
0.00001
|
NM_000520.6(HEXA):c.621T>C (p.Asp207=)
|
rs763649208
|
0.00001
|
NM_000520.6(HEXA):c.636A>G (p.Pro212=)
|
rs774842392
|
0.00001
|
NM_000520.6(HEXA):c.664A>C (p.Met222Leu)
|
rs768751360
|
0.00001
|
NM_000520.6(HEXA):c.672+10C>T
|
rs2088689193
|
0.00001
|
NM_000520.6(HEXA):c.672+11G>A
|
rs1196402639
|
0.00001
|
NM_000520.6(HEXA):c.6A>G (p.Thr2=)
|
rs1372094460
|
0.00001
|
NM_000520.6(HEXA):c.705A>G (p.Thr235=)
|
rs781164103
|
0.00001
|
NM_000520.6(HEXA):c.735C>T (p.Tyr245=)
|
rs777460475
|
0.00001
|
NM_000520.6(HEXA):c.740G>A (p.Arg247Gln)
|
rs1360213217
|
0.00001
|
NM_000520.6(HEXA):c.741G>A (p.Arg247=)
|
rs76873846
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.755G>A (p.Arg252His)
|
rs762255098
|
0.00001
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
NM_000520.6(HEXA):c.795C>T (p.Ser265=)
|
rs746942625
|
0.00001
|
NM_000520.6(HEXA):c.7A>G (p.Ser3Gly)
|
rs1277583383
|
0.00001
|
NM_000520.6(HEXA):c.805+1G>C
|
rs121907980
|
0.00001
|
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)
|
rs751393950
|
0.00001
|
NM_000520.6(HEXA):c.867A>G (p.Pro289=)
|
rs1420729942
|
0.00001
|
NM_000520.6(HEXA):c.876C>T (p.Pro292=)
|
rs143009489
|
0.00001
|
NM_000520.6(HEXA):c.884A>G (p.Asn295Ser)
|
rs199578185
|
0.00001
|
NM_000520.6(HEXA):c.901A>C (p.Met301Leu)
|
rs758871181
|
0.00001
|
NM_000520.6(HEXA):c.917T>G (p.Leu306Ter)
|
rs1567297439
|
0.00001
|
NM_000520.6(HEXA):c.957T>C (p.Leu319=)
|
rs373799508
|
0.00001
|
NM_000520.6(HEXA):c.961G>A (p.Gly321Arg)
|
rs556877212
|
0.00001
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
NM_000520.6(HEXA):c.987-14C>T
|
rs766562662
|
0.00001
|
NM_000520.6(HEXA):c.987-15T>C
|
rs754219266
|
0.00001
|
NM_000520.6(HEXA):c.987-18T>G
|
rs374977824
|
0.00001
|
NM_000520.6(HEXA):c.987-8G>C
|
rs760923149
|
0.00001
|
NM_000521.4(HEXB):c.1041A>G (p.Gln347=)
|
rs755091383
|
0.00001
|
NM_000521.4(HEXB):c.1165dup (p.Gln389fs)
|
rs1749680051
|
0.00001
|
NM_000521.4(HEXB):c.1242+17C>A
|
rs1223566396
|
0.00001
|
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)
|
rs1309123671
|
0.00001
|
NM_000521.4(HEXB):c.1243-2A>G
|
rs398123446
|
0.00001
|
NM_000521.4(HEXB):c.1243-8G>A
|
rs776913614
|
0.00001
|
NM_000521.4(HEXB):c.126G>A (p.Ala42=)
|
rs1457481809
|
0.00001
|
NM_000521.4(HEXB):c.138G>T (p.Pro46=)
|
rs1378693652
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr)
|
rs773007352
|
0.00001
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
0.00001
|
NM_000521.4(HEXB):c.1482T>C (p.Asp494=)
|
rs1241194558
|
0.00001
|
NM_000521.4(HEXB):c.1508+1G>A
|
rs758459585
|
0.00001
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro)
|
rs778501777
|
0.00001
|
NM_000521.4(HEXB):c.1539C>A (p.Leu513=)
|
rs1258974496
|
0.00001
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
NM_000521.4(HEXB):c.1614-10T>C
|
rs1579958155
|
0.00001
|
NM_000521.4(HEXB):c.1614-16_1622dup
|
rs756912360
|
0.00001
|
NM_000521.4(HEXB):c.1614-4A>G
|
rs1182075193
|
0.00001
|
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val)
|
rs767663018
|
0.00001
|
NM_000521.4(HEXB):c.1650T>C (p.Tyr550=)
|
rs1315099188
|
0.00001
|
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser)
|
rs763927371
|
0.00001
|
NM_000521.4(HEXB):c.180G>A (p.Pro60=)
|
rs772089862
|
0.00001
|
NM_000521.4(HEXB):c.189G>A (p.Val63=)
|
rs145144279
|
0.00001
|
NM_000521.4(HEXB):c.210G>T (p.Leu70=)
|
rs552152839
|
0.00001
|
NM_000521.4(HEXB):c.249C>T (p.Pro83=)
|
rs776301441
|
0.00001
|
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg)
|
rs1193552297
|
0.00001
|
NM_000521.4(HEXB):c.33G>T (p.Pro11=)
|
rs1207274571
|
0.00001
|
NM_000521.4(HEXB):c.36C>T (p.Pro12=)
|
rs1311449316
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000521.4(HEXB):c.471G>A (p.Val157=)
|
rs918729308
|
0.00001
|
NM_000521.4(HEXB):c.486C>A (p.Ala162=)
|
rs1342668095
|
0.00001
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
NM_000521.4(HEXB):c.525T>C (p.Phe175=)
|
rs766197541
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000521.4(HEXB):c.584T>C (p.Ile195Thr)
|
rs765229504
|
0.00001
|
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu)
|
rs865822685
|
0.00001
|
NM_000521.4(HEXB):c.654T>C (p.Ile218=)
|
rs1395527567
|
0.00001
|
NM_000521.4(HEXB):c.66G>A (p.Leu22=)
|
rs1355564918
|
0.00001
|
NM_000521.4(HEXB):c.69G>T (p.Leu23=)
|
rs1453045657
|
0.00001
|
NM_000521.4(HEXB):c.723C>T (p.Asp241=)
|
rs779260926
|
0.00001
|
NM_000521.4(HEXB):c.738T>C (p.Tyr246=)
|
rs777853621
|
0.00001
|
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe)
|
rs867255937
|
0.00001
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter)
|
rs138914144
|
0.00001
|
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)
|
rs121907986
|
0.00001
|
NM_000521.4(HEXB):c.855C>A (p.Val285=)
|
rs781190762
|
0.00001
|
NM_000521.4(HEXB):c.873C>T (p.Thr291=)
|
rs778593630
|
0.00001
|
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala)
|
rs1255790136
|
0.00001
|
NM_000521.4(HEXB):c.888A>G (p.Leu296=)
|
rs1186019854
|
0.00001
|
NM_000521.4(HEXB):c.902-5T>G
|
rs201521887
|
0.00001
|
NM_000521.4(HEXB):c.965del (p.Ile322fs)
|
rs768438206
|
0.00001
|
NC_000005.10:g.(?_151253197)_(151267660_?)del
|
|
|
NC_000005.10:g.(?_74685241)_(74697126_?)del
|
|
|
NC_000005.10:g.(?_74685251)_(74697116_?)del
|
|
|
NC_000005.10:g.(?_74685261)_(74697106_?)del
|
|
|
NC_000005.9:g.(?_150632778)_(150646494_?)dup
|
|
|
NC_000005.9:g.(?_150632778)_(150727021_?)dup
|
|
|
NC_000005.9:g.(?_73978914)_(73981242_?)del
|
|
|
NC_000005.9:g.(?_73980960)_(74041702_?)del
|
|
|
NC_000005.9:g.(?_73980960)_(75008762_?)dup
|
|
|
NC_000005.9:g.(?_73981066)_(74017020_?)del
|
|
|
NC_000005.9:g.(?_73981076)_(73981394_?)del
|
|
|
NC_000005.9:g.(?_73985143)_(74014806_?)del
|
|
|
NC_000005.9:g.(?_73992508)_(73992941_?)dup
|
|
|
NC_000005.9:g.(?_74011325)_(74017010_?)del
|
|
|
NC_000015.10:g.(?_72345446)_(72346710_?)del
|
|
|
NC_000015.10:g.(?_72350508)_(72351244_?)del
|
|
|
NC_000015.10:g.(?_72374460)_(72375992_?)del
|
|
|
NC_000015.9:g.(?_72103084)_(74244178_?)del
|
|
|
NC_000015.9:g.(?_72636408)_(72636491_?)del
|
|
|
NC_000015.9:g.(?_72636418)_(73660611_?)dup
|
|
|
NC_000015.9:g.(?_72637535)_(72639061_?)del
|
|
|
NC_000015.9:g.(?_72637767)_(72639071_?)del
|
|
|
NC_000015.9:g.(?_72638556)_(72639071_?)del
|
|
|
NC_000015.9:g.(?_72638867)_(72641658_?)del
|
|
|
NC_000015.9:g.(?_72640007)_(72641620_?)dup
|
|
|
NC_000015.9:g.(?_72640007)_(72643595_?)dup
|
|
|
NC_000015.9:g.(?_72646063)_(72653091_?)del
|
|
|
NC_000015.9:g.(?_72662933)_72670877del
|
|
|
NC_000015.9:g.(?_72666113)_(72666961_?)del
|
|
|
NM_000405.5(GM2A):c.11T>A (p.Leu4Gln)
|
rs762676667
|
|
NM_000405.5(GM2A):c.137C>A (p.Ala46Glu)
|
|
|
NM_000405.5(GM2A):c.13A>C (p.Met5Leu)
|
|
|
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu)
|
rs730882196
|
|
NM_000405.5(GM2A):c.172A>T (p.Ile58Phe)
|
|
|
NM_000405.5(GM2A):c.178G>A (p.Val60Ile)
|
rs201829650
|
|
NM_000405.5(GM2A):c.178G>C (p.Val60Leu)
|
rs201829650
|
|
NM_000405.5(GM2A):c.182C>G (p.Pro61Arg)
|
|
|
NM_000405.5(GM2A):c.184G>A (p.Gly62Arg)
|
|
|
NM_000405.5(GM2A):c.203T>C (p.Val68Ala)
|
|
|
NM_000405.5(GM2A):c.204_205inv (p.Met69Val)
|
|
|
NM_000405.5(GM2A):c.205_206delinsGC (p.Met69Ala)
|
|
|
NM_000405.5(GM2A):c.207G>A (p.Met69Ile)
|
rs2114032524
|
|
NM_000405.5(GM2A):c.207G>C (p.Met69Ile)
|
|
|
NM_000405.5(GM2A):c.243+10G>A
|
|
|
NM_000405.5(GM2A):c.243+9G>A
|
|
|
NM_000405.5(GM2A):c.244-15A>T
|
|
|
NM_000405.5(GM2A):c.244-6T>C
|
rs2127240577
|
|
NM_000405.5(GM2A):c.244-6del
|
|
|
NM_000405.5(GM2A):c.244-6dup
|
|
|
NM_000405.5(GM2A):c.261G>A (p.Glu87=)
|
|
|
NM_000405.5(GM2A):c.276_277delinsTT (p.Leu93Phe)
|
rs1753894633
|
|
NM_000405.5(GM2A):c.278_279delinsGT (p.Leu93Arg)
|
rs2127240636
|
|
NM_000405.5(GM2A):c.315C>T (p.Ser105=)
|
|
|
NM_000405.5(GM2A):c.342G>C (p.Val114=)
|
|
|
NM_000405.5(GM2A):c.367del (p.Glu123fs)
|
rs1302210667
|
|
NM_000405.5(GM2A):c.36C>T (p.Ala12=)
|
|
|
NM_000405.5(GM2A):c.381G>A (p.Glu127=)
|
|
|
NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)
|
|
|
NM_000405.5(GM2A):c.426+11A>T
|
|
|
NM_000405.5(GM2A):c.427-12G>A
|
|
|
NM_000405.5(GM2A):c.427-4G>T
|
|
|
NM_000405.5(GM2A):c.427-6C>T
|
|
|
NM_000405.5(GM2A):c.427-7C>T
|
|
|
NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)
|
|
|
NM_000405.5(GM2A):c.429A>T (p.Gly143=)
|
|
|
NM_000405.5(GM2A):c.445A>C (p.Lys149Gln)
|
|
|
NM_000405.5(GM2A):c.449G>A (p.Ser150Asn)
|
|
|
NM_000405.5(GM2A):c.467A>T (p.Asp156Val)
|
|
|
NM_000405.5(GM2A):c.492C>G (p.Thr164=)
|
|
|
NM_000405.5(GM2A):c.505C>A (p.Arg169Ser)
|
|
|
NM_000405.5(GM2A):c.505C>T (p.Arg169Cys)
|
|
|
NM_000405.5(GM2A):c.511G>C (p.Glu171Gln)
|
|
|
NM_000405.5(GM2A):c.512A>T (p.Glu171Val)
|
|
|
NM_000405.5(GM2A):c.524G>A (p.Ser175Asn)
|
|
|
NM_000405.5(GM2A):c.538C>A (p.Arg180Ser)
|
rs771081390
|
|
NM_000405.5(GM2A):c.538C>T (p.Arg180Cys)
|
|
|
NM_000405.5(GM2A):c.539G>C (p.Arg180Pro)
|
|
|
NM_000405.5(GM2A):c.558C>T (p.Ile186=)
|
|
|
NM_000405.5(GM2A):c.559G>A (p.Ala187Thr)
|
|
|
NM_000405.5(GM2A):c.570A>G (p.Leu190=)
|
|
|
NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)
|
|
|
NM_000405.5(GM2A):c.579A>C (p.Ile193=)
|
|
|
NM_000405.5(GM2A):c.579A>G (p.Ile193Met)
|
|
|
NM_000405.5(GM2A):c.57C>G (p.Ala19=)
|
|
|
NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)
|
|
|
NM_000405.5(GM2A):c.81+4A>G
|
|
|
NM_000405.5(GM2A):c.82-17T>C
|
|
|
NM_000405.5(GM2A):c.82-18C>T
|
|
|
NM_000405.5(GM2A):c.84A>G (p.Pro28=)
|
|
|
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro)
|
rs1582070376
|
|
NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)
|
|
|
NM_000520.6(HEXA):c.-7_1del (p.Met1fs)
|
rs759154405
|
|
NM_000520.6(HEXA):c.1009G>A (p.Asp337Asn)
|
|
|
NM_000520.6(HEXA):c.100G>A (p.Asp34Asn)
|
|
|
NM_000520.6(HEXA):c.1014del (p.Phe338fs)
|
|
|
NM_000520.6(HEXA):c.1019G>A (p.Arg340Lys)
|
|
|
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg)
|
rs1417593132
|
|
NM_000520.6(HEXA):c.1023G>A (p.Lys341=)
|
|
|
NM_000520.6(HEXA):c.1026A>G (p.Lys342=)
|
rs1595798386
|
|
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)
|
rs191330716
|
|
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
|
|
|
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr)
|
rs745555933
|
|
NM_000520.6(HEXA):c.1042T>G (p.Phe348Val)
|
|
|
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)
|
rs1057516755
|
|
NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)
|
|
|
NM_000520.6(HEXA):c.1053_1054delinsTCCAGCTTGA (p.Glu352delinsProAlaTer)
|
|
|
NM_000520.6(HEXA):c.1058C>T (p.Ser353Phe)
|
rs2140322145
|
|
NM_000520.6(HEXA):c.1059C>T (p.Ser353=)
|
rs1264309804
|
|
NM_000520.6(HEXA):c.1065C>T (p.Tyr355=)
|
rs2140322139
|
|
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)
|
|
|
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
|
rs2089059184
|
|
NM_000520.6(HEXA):c.1073+10G>A
|
rs1458405375
|
|
NM_000520.6(HEXA):c.1073+10G>T
|
|
|
NM_000520.6(HEXA):c.1073+17G>A
|
rs1277432109
|
|
NM_000520.6(HEXA):c.1073+1G>C
|
rs76173977
|
|
NM_000520.6(HEXA):c.1074-12TCTCC[3]
|
rs759219683
|
|
NM_000520.6(HEXA):c.1074-16C>A
|
|
|
NM_000520.6(HEXA):c.1074-16C>T
|
|
|
NM_000520.6(HEXA):c.1074-17A>G
|
|
|
NM_000520.6(HEXA):c.1074-19A>G
|
|
|
NM_000520.6(HEXA):c.1074-20G>A
|
|
|
NM_000520.6(HEXA):c.1074-7T>C
|
rs2140321912
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.1074-8C>T
|
rs2140321914
|
|
NM_000520.6(HEXA):c.1074G>C (p.Thr358=)
|
rs1330754060
|
|
NM_000520.6(HEXA):c.107G>C (p.Arg36Pro)
|
|
|
NM_000520.6(HEXA):c.107dup (p.Tyr37fs)
|
|
|
NM_000520.6(HEXA):c.1080G>A (p.Leu360=)
|
rs1344084494
|
|
NM_000520.6(HEXA):c.1086C>A (p.Ile362=)
|
rs749828204
|
|
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile)
|
rs557550173
|
|
NM_000520.6(HEXA):c.1087G>T (p.Val363Phe)
|
|
|
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr)
|
rs2088636561
|
|
NM_000520.6(HEXA):c.1088T>A (p.Val363Asp)
|
|
|
NM_000520.6(HEXA):c.1088dup (p.Ser364fs)
|
|
|
NM_000520.6(HEXA):c.1091C>G (p.Ser364Cys)
|
|
|
NM_000520.6(HEXA):c.1091CTT[1] (p.Ser365del)
|
|
|
NM_000520.6(HEXA):c.1092_1093del (p.Ser365fs)
|
|
|
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1098T>C (p.Tyr366=)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1099G>A (p.Gly367Ser)
|
rs2140321869
|
|
NM_000520.6(HEXA):c.10_12dup (p.Ser4_Arg5insSer)
|
|
|
NM_000520.6(HEXA):c.1101C>G (p.Gly367=)
|
|
|
NM_000520.6(HEXA):c.1108T>A (p.Tyr370Asn)
|
|
|
NM_000520.6(HEXA):c.1109A>G (p.Tyr370Cys)
|
|
|
NM_000520.6(HEXA):c.110A>G (p.Tyr37Cys)
|
rs2140344677
|
|
NM_000520.6(HEXA):c.1110T>C (p.Tyr370=)
|
rs2140321848
|
|
NM_000520.6(HEXA):c.1114G>A (p.Val372Met)
|
rs759434633
|
|
NM_000520.6(HEXA):c.1114G>T (p.Val372Leu)
|
|
|
NM_000520.6(HEXA):c.1114del (p.Val372fs)
|
rs2140321846
|
|
NM_000520.6(HEXA):c.1122G>A (p.Gln374=)
|
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
NM_000520.6(HEXA):c.1135A>G (p.Asn379Asp)
|
|
|
NM_000520.6(HEXA):c.1136A>G (p.Asn379Ser)
|
|
|
NM_000520.6(HEXA):c.1137T>C (p.Asn379=)
|
rs2140321800
|
|
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)
|
rs1555472553
|
|
NM_000520.6(HEXA):c.1142T>A (p.Val381Glu)
|
|
|
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs)
|
rs1595798033
|
|
NM_000520.6(HEXA):c.1143A>G (p.Val381=)
|
rs781712951
|
|
NM_000520.6(HEXA):c.1145A>C (p.Lys382Thr)
|
rs960869164
|
|
NM_000520.6(HEXA):c.1146+11G>A
|
|
|
NM_000520.6(HEXA):c.1146+17A>G
|
rs2140321766
|
|
NM_000520.6(HEXA):c.1146+18A>G
|
rs1555472543
|
|
NM_000520.6(HEXA):c.1146+7C>G
|
|
|
NM_000520.6(HEXA):c.1146+7C>T
|
rs1445671872
|
|
NM_000520.6(HEXA):c.1146+8G>T
|
|
|
NM_000520.6(HEXA):c.1147-13C>T
|
|
|
NM_000520.6(HEXA):c.1147-14A>G
|
|
|
NM_000520.6(HEXA):c.1147-3C>T
|
|
|
NM_000520.6(HEXA):c.1147-6T>C
|
|
|
NM_000520.6(HEXA):c.1147-7A>G
|
rs1476782915
|
|
NM_000520.6(HEXA):c.1147-8T>G
|
|
|
NM_000520.6(HEXA):c.1147-9_1147-6del
|
rs2140320865
|
|
NM_000520.6(HEXA):c.1152G>C (p.Gln384His)
|
|
|
NM_000520.6(HEXA):c.1154C>T (p.Pro385Leu)
|
|
|
NM_000520.6(HEXA):c.1160C>T (p.Thr387Ile)
|
|
|
NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs)
|
|
|
NM_000520.6(HEXA):c.1161A>T (p.Thr387=)
|
rs1244956386
|
|
NM_000520.6(HEXA):c.1164C>T (p.Ile388=)
|
|
|
NM_000520.6(HEXA):c.1165A>G (p.Ile389Val)
|
|
|
NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)
|
|
|
NM_000520.6(HEXA):c.1168C>G (p.Gln390Glu)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1171G>A (p.Val391Met)
|
rs2140320821
|
|
NM_000520.6(HEXA):c.1173G>T (p.Val391=)
|
rs575836910
|
|
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter)
|
rs267606862
|
|
NM_000520.6(HEXA):c.117T>G (p.Leu39=)
|
|
|
NM_000520.6(HEXA):c.1182G>A (p.Glu394=)
|
|
|
NM_000520.6(HEXA):c.1183del (p.Asp395fs)
|
rs770303210
|
|
NM_000520.6(HEXA):c.1188T>A (p.Ile396=)
|
|
|
NM_000520.6(HEXA):c.1189C>A (p.Pro397Thr)
|
|
|
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser)
|
rs778878211
|
|
NM_000520.6(HEXA):c.118del (p.Tyr40fs)
|
rs2140344667
|
|
NM_000520.6(HEXA):c.1191A>G (p.Pro397=)
|
rs2140320794
|
|
NM_000520.6(HEXA):c.1194G>C (p.Val398=)
|
rs2140320785
|
|
NM_000520.6(HEXA):c.1194G>T (p.Val398=)
|
rs2140320785
|
|
NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser)
|
|
|
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile)
|
rs755973971
|
|
NM_000520.6(HEXA):c.1198T>C (p.Tyr400His)
|
|
|
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del)
|
rs1467732394
|
|
NM_000520.6(HEXA):c.1209G>T (p.Glu403Asp)
|
|
|
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis)
|
rs1177678117
|
|
NM_000520.6(HEXA):c.121C>T (p.Pro41Ser)
|
|
|
NM_000520.6(HEXA):c.1220del (p.Val407fs)
|
rs2140320741
|
|
NM_000520.6(HEXA):c.1226A>G (p.Lys409Arg)
|
|
|
NM_000520.6(HEXA):c.1230C>A (p.Ala410=)
|
|
|
NM_000520.6(HEXA):c.1233C>G (p.Gly411=)
|
rs2140320715
|
|
NM_000520.6(HEXA):c.1238G>A (p.Arg413Gln)
|
|
|
NM_000520.6(HEXA):c.1238G>C (p.Arg413Pro)
|
rs766988109
|
|
NM_000520.6(HEXA):c.1239G>A (p.Arg413=)
|
rs2140320704
|
|
NM_000520.6(HEXA):c.1239G>T (p.Arg413=)
|
rs2140320704
|
|
NM_000520.6(HEXA):c.123G>T (p.Pro41=)
|
rs769075910
|
|
NM_000520.6(HEXA):c.1242C>T (p.Ala414=)
|
|
|
NM_000520.6(HEXA):c.1245T>C (p.Leu415=)
|
|
|
NM_000520.6(HEXA):c.1250C>G (p.Ser417Cys)
|
|
|
NM_000520.6(HEXA):c.1250_1251del (p.Ser417fs)
|
|
|
NM_000520.6(HEXA):c.1251T>G (p.Ser417=)
|
|
|
NM_000520.6(HEXA):c.1252G>T (p.Ala418Ser)
|
|
|
NM_000520.6(HEXA):c.1253C>A (p.Ala418Asp)
|
|
|
NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly)
|
|
|
NM_000520.6(HEXA):c.1257C>T (p.Pro419=)
|
rs1595797185
|
|
NM_000520.6(HEXA):c.1257dup (p.Trp420fs)
|
|
|
NM_000520.6(HEXA):c.1258del (p.Trp420fs)
|
rs1216659000
|
|
NM_000520.6(HEXA):c.1263C>T (p.Tyr421=)
|
rs2140320674
|
|
NM_000520.6(HEXA):c.1270C>T (p.Arg424Cys)
|
|
|
NM_000520.6(HEXA):c.1272T>C (p.Arg424=)
|
rs1020151571
|
|
NM_000520.6(HEXA):c.1273A>G (p.Ile425Val)
|
rs2088617363
|
|
NM_000520.6(HEXA):c.1276T>G (p.Ser426Ala)
|
|
|
NM_000520.6(HEXA):c.1277C>T (p.Ser426Phe)
|
rs2140320645
|
|
NM_000520.6(HEXA):c.1278C>T (p.Ser426=)
|
|
|
NM_000520.6(HEXA):c.127A>G (p.Asn43Asp)
|
rs1567308297
|
|
NM_000520.6(HEXA):c.1283G>A (p.Gly428Asp)
|
rs2140320638
|
|
NM_000520.6(HEXA):c.1285C>T (p.Pro429Ser)
|
rs2140320635
|
|
NM_000520.6(HEXA):c.1287T>C (p.Pro429=)
|
rs1159406854
|
|
NM_000520.6(HEXA):c.1288G>A (p.Asp430Asn)
|
|
|
NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter)
|
|
|
NM_000520.6(HEXA):c.1296G>A (p.Lys432=)
|
|
|
NM_000520.6(HEXA):c.12C>T (p.Ser4=)
|
rs774967373
|
|
NM_000520.6(HEXA):c.1305_1306inv (p.Ile436Val)
|
|
|
NM_000520.6(HEXA):c.1306A>T (p.Ile436Leu)
|
rs1800431
|
|
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)
|
rs777042785
|
|
NM_000520.6(HEXA):c.1311G>A (p.Val437=)
|
rs2140320599
|
|
NM_000520.6(HEXA):c.1315C>A (p.Pro439Thr)
|
rs2140320594
|
|
NM_000520.6(HEXA):c.1317C>G (p.Pro439=)
|
rs1003506073
|
|
NM_000520.6(HEXA):c.1317C>T (p.Pro439=)
|
rs1003506073
|
|
NM_000520.6(HEXA):c.1321G>A (p.Ala441Thr)
|
rs2140320582
|
|
NM_000520.6(HEXA):c.1322C>G (p.Ala441Gly)
|
rs2140320579
|
|
NM_000520.6(HEXA):c.1330+12G>C
|
|
|
NM_000520.6(HEXA):c.1330+15C>T
|
|
|
NM_000520.6(HEXA):c.1330+19C>T
|
|
|
NM_000520.6(HEXA):c.1330+1G>A
|
rs767041069
|
|
NM_000520.6(HEXA):c.1330+2T>C
|
rs2140320568
|
|
NM_000520.6(HEXA):c.1330+4A>T
|
|
|
NM_000520.6(HEXA):c.1331-13T>C
|
|
|
NM_000520.6(HEXA):c.1331-16G>T
|
|
|
NM_000520.6(HEXA):c.1331-18T>C
|
|
|
NM_000520.6(HEXA):c.1331-19G>C
|
|
|
NM_000520.6(HEXA):c.1331-19G>T
|
|
|
NM_000520.6(HEXA):c.1331-4T>C
|
|
|
NM_000520.6(HEXA):c.1331-5C>G
|
|
|
NM_000520.6(HEXA):c.1331-5C>T
|
|
|
NM_000520.6(HEXA):c.1331-7C>G
|
|
|
NM_000520.6(HEXA):c.1331-7C>T
|
|
|
NM_000520.6(HEXA):c.1331G>A (p.Gly444Asp)
|
|
|
NM_000520.6(HEXA):c.1335C>A (p.Thr445=)
|
|
|
NM_000520.6(HEXA):c.1335C>T (p.Thr445=)
|
rs1365983427
|
|
NM_000520.6(HEXA):c.1336C>T (p.Pro446Ser)
|
|
|
NM_000520.6(HEXA):c.1337C>T (p.Pro446Leu)
|
|
|
NM_000520.6(HEXA):c.1338T>A (p.Pro446=)
|
rs34085965
|
|
NM_000520.6(HEXA):c.1338del (p.Glu447fs)
|
|
|
NM_000520.6(HEXA):c.1339G>A (p.Glu447Lys)
|
|
|
NM_000520.6(HEXA):c.1344G>A (p.Gln448=)
|
rs2140320361
|
|
NM_000520.6(HEXA):c.1346A>G (p.Lys449Arg)
|
|
|
NM_000520.6(HEXA):c.1347G>A (p.Lys449=)
|
|
|
NM_000520.6(HEXA):c.1356G>A (p.Val452=)
|
|
|
NM_000520.6(HEXA):c.135A>G (p.Gln45=)
|
|
|
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser)
|
rs121907978
|
|
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)
|
rs1229811721
|
|
NM_000520.6(HEXA):c.1362T>C (p.Gly454=)
|
|
|
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
|
|
|
NM_000520.6(HEXA):c.1364del (p.Gly455fs)
|
|
|
NM_000520.6(HEXA):c.1367A>C (p.Glu456Ala)
|
rs1567295650
|
|
NM_000520.6(HEXA):c.1367A>G (p.Glu456Gly)
|
|
|
NM_000520.6(HEXA):c.1368G>A (p.Glu456=)
|
rs2140320322
|
|
NM_000520.6(HEXA):c.1368G>C (p.Glu456Asp)
|
rs2140320322
|
|
NM_000520.6(HEXA):c.136T>C (p.Phe46Leu)
|
rs1287127671
|
|
NM_000520.6(HEXA):c.1371T>A (p.Ala457=)
|
rs2140320317
|
|
NM_000520.6(HEXA):c.1371T>G (p.Ala457=)
|
|
|
NM_000520.6(HEXA):c.1374T>C (p.Cys458=)
|
rs764396757
|
|
NM_000520.6(HEXA):c.1377G>A (p.Met459Ile)
|
|
|
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
|
|
|
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter)
|
|
|
NM_000520.6(HEXA):c.1389T>C (p.Tyr463=)
|
rs1239101618
|
|
NM_000520.6(HEXA):c.1399A>G (p.Thr467Ala)
|
|
|
NM_000520.6(HEXA):c.13A>C (p.Arg5=)
|
rs1595816387
|
|
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)
|
|
|
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile)
|
rs746828145
|
|
NM_000520.6(HEXA):c.1405C>T (p.Leu469=)
|
rs777731446
|
|
NM_000520.6(HEXA):c.1407G>C (p.Leu469=)
|
|
|
NM_000520.6(HEXA):c.1407G>T (p.Leu469=)
|
rs2140320253
|
|
NM_000520.6(HEXA):c.1410C>G (p.Val470=)
|
rs771951380
|
|
NM_000520.6(HEXA):c.1416G>A (p.Arg472=)
|
rs369117208
|
|
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs)
|
rs987921756
|
|
NM_000520.6(HEXA):c.141G>C (p.Gln47His)
|
|
|
NM_000520.6(HEXA):c.1421+12C>G
|
|
|
NM_000520.6(HEXA):c.1421+13G>C
|
rs375201437
|
|
NM_000520.6(HEXA):c.1421+13dup
|
rs780193130
|
|
NM_000520.6(HEXA):c.1421+14G>A
|
rs201497629
|
|
NM_000520.6(HEXA):c.1421+14G>T
|
rs201497629
|
|
NM_000520.6(HEXA):c.1421+15G>A
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+15G>T
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+16G>C
|
|
|
NM_000520.6(HEXA):c.1421+19G>A
|
|
|
NM_000520.6(HEXA):c.1421+19G>C
|
|
|
NM_000520.6(HEXA):c.1421+19G>T
|
|
|
NM_000520.6(HEXA):c.1421+19del
|
|
|
NM_000520.6(HEXA):c.1421+1G>T
|
rs147324677
|
|
NM_000520.6(HEXA):c.1421+3A>T
|
|
|
NM_000520.6(HEXA):c.1421+6G>C
|
|
|
NM_000520.6(HEXA):c.1421+7G>T
|
|
|
NM_000520.6(HEXA):c.1421+7del
|
rs747378954
|
|
NM_000520.6(HEXA):c.1421+9T>C
|
rs2140320220
|
|
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)
|
rs762374961
|
|
NM_000520.6(HEXA):c.1422-13C>T
|
rs1366173591
|
|
NM_000520.6(HEXA):c.1422-14C>T
|
|
|
NM_000520.6(HEXA):c.1422-18A>G
|
|
|
NM_000520.6(HEXA):c.1422-1G>T
|
rs1555472296
|
|
NM_000520.6(HEXA):c.1422-2A>G
|
|
|
NM_000520.6(HEXA):c.1422-6C>T
|
|
|
NM_000520.6(HEXA):c.1422-8T>C
|
rs2140319698
|
|
NM_000520.6(HEXA):c.1422-9T>A
|
rs2140319704
|
|
NM_000520.6(HEXA):c.1424C>G (p.Pro475Arg)
|
rs758829206
|
|
NM_000520.6(HEXA):c.1425C>T (p.Pro475=)
|
rs2140319679
|
|
NM_000520.6(HEXA):c.1431A>G (p.Ala477=)
|
rs2140319674
|
|
NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)
|
|
|
NM_000520.6(HEXA):c.1435del (p.Ala479fs)
|
rs2088601317
|
|
NM_000520.6(HEXA):c.1437T>C (p.Ala479=)
|
rs2140319660
|
|
NM_000520.6(HEXA):c.1439T>C (p.Val480Ala)
|
|
|
NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter)
|
rs2140344619
|
|
NM_000520.6(HEXA):c.144C>T (p.Tyr48=)
|
rs2140344619
|
|
NM_000520.6(HEXA):c.1452G>A (p.Leu484=)
|
|
|
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)
|
rs121907968
|
|
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)
|
rs1057519468
|
|
NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter)
|
rs2140319619
|
|
NM_000520.6(HEXA):c.1457G>A (p.Ser486Asn)
|
rs1408716264
|
|
NM_000520.6(HEXA):c.1467G>C (p.Leu489Phe)
|
|
|
NM_000520.6(HEXA):c.1469C>T (p.Thr490Ile)
|
|
|
NM_000520.6(HEXA):c.1470A>G (p.Thr490=)
|
|
|
NM_000520.6(HEXA):c.1473T>G (p.Ser491=)
|
|
|
NM_000520.6(HEXA):c.1474G>C (p.Asp492His)
|
|
|
NM_000520.6(HEXA):c.147T>C (p.Asp49=)
|
|
|
NM_000520.6(HEXA):c.1481C>G (p.Thr494Arg)
|
rs2088600017
|
|
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)
|
|
|
NM_000520.6(HEXA):c.1488C>G (p.Ala496=)
|
|
|
NM_000520.6(HEXA):c.148G>A (p.Val50Ile)
|
|
|
NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)
|
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
NM_000520.6(HEXA):c.1509C>G (p.Phe503Leu)
|
|
|
NM_000520.6(HEXA):c.1510del (p.Arg504fs)
|
rs797044433
|
|
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)
|
rs121907955
|
|
NM_000520.6(HEXA):c.1521G>A (p.Leu507=)
|
|
|
NM_000520.6(HEXA):c.1524G>A (p.Leu508=)
|
rs2140319542
|
|
NM_000520.6(HEXA):c.1525_1526+27del
|
rs2140319516
|
|
NM_000520.6(HEXA):c.1526+13T>C
|
rs1406864261
|
|
NM_000520.6(HEXA):c.1526+14G>A
|
|
|
NM_000520.6(HEXA):c.1526+1G>A
|
|
|
NM_000520.6(HEXA):c.1526+1G>T
|
rs1309204908
|
|
NM_000520.6(HEXA):c.1526+20T>G
|
|
|
NM_000520.6(HEXA):c.1526+7_1526+10del
|
rs1165016914
|
|
NM_000520.6(HEXA):c.1527-10C>T
|
|
|
NM_000520.6(HEXA):c.1527-18C>T
|
|
|
NM_000520.6(HEXA):c.1527-4G>A
|
|
|
NM_000520.6(HEXA):c.1527-4G>C
|
|
|
NM_000520.6(HEXA):c.1527-7C>T
|
rs2088581612
|
|
NM_000520.6(HEXA):c.152G>C (p.Ser51Thr)
|
rs2089058076
|
|
NM_000520.6(HEXA):c.1532G>T (p.Gly511Val)
|
|
|
NM_000520.6(HEXA):c.1533T>C (p.Gly511=)
|
rs761249905
|
|
NM_000520.6(HEXA):c.1533T>G (p.Gly511=)
|
|
|
NM_000520.6(HEXA):c.1536C>G (p.Val512=)
|
|
|
NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)
|
|
|
NM_000520.6(HEXA):c.1549dup (p.Leu517fs)
|
rs1555472161
|
|
NM_000520.6(HEXA):c.1554T>C (p.Asn518=)
|
rs749609063
|
|
NM_000520.6(HEXA):c.1556T>C (p.Val519Ala)
|
|
|
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter)
|
rs987036804
|
|
NM_000520.6(HEXA):c.1563C>T (p.Phe521=)
|
|
|
NM_000520.6(HEXA):c.156G>C (p.Ser52=)
|
|
|
NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro)
|
rs1432462387
|
|
NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly)
|
|
|
NM_000520.6(HEXA):c.1578T>C (p.Phe526=)
|
rs2140318501
|
|
NM_000520.6(HEXA):c.157G>A (p.Ala53Thr)
|
|
|
NM_000520.6(HEXA):c.157G>T (p.Ala53Ser)
|
rs2140344593
|
|
NM_000520.6(HEXA):c.1587C>T (p.Thr529=)
|
|
|
NM_000520.6(HEXA):c.159C>T (p.Ala53=)
|
rs2140344589
|
|
NM_000520.6(HEXA):c.162G>T (p.Ala54=)
|
|
|
NM_000520.6(HEXA):c.165G>A (p.Gln55=)
|
|
|
NM_000520.6(HEXA):c.167C>G (p.Pro56Arg)
|
|
|
NM_000520.6(HEXA):c.169G>C (p.Gly57Arg)
|
rs2089057551
|
|
NM_000520.6(HEXA):c.16C>A (p.Leu6Ile)
|
rs1167125379
|
|
NM_000520.6(HEXA):c.176C>T (p.Ser59Leu)
|
|
|
NM_000520.6(HEXA):c.178G>T (p.Val60Phe)
|
|
|
NM_000520.6(HEXA):c.179T>C (p.Val60Ala)
|
|
|
NM_000520.6(HEXA):c.17T>G (p.Leu6Arg)
|
|
|
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe)
|
rs1595816175
|
|
NM_000520.6(HEXA):c.183C>G (p.Leu61=)
|
rs2089056934
|
|
NM_000520.6(HEXA):c.183C>T (p.Leu61=)
|
rs2089056934
|
|
NM_000520.6(HEXA):c.186C>T (p.Asp62=)
|
rs765001944
|
|
NM_000520.6(HEXA):c.189G>A (p.Glu63=)
|
rs1401078087
|
|
NM_000520.6(HEXA):c.190G>A (p.Ala64Thr)
|
|
|
NM_000520.6(HEXA):c.195C>T (p.Phe65=)
|
|
|
NM_000520.6(HEXA):c.196del (p.Gln66fs)
|
|
|
NM_000520.6(HEXA):c.19del (p.Trp7fs)
|
|
|
NM_000520.6(HEXA):c.1A>C (p.Met1Leu)
|
rs121907965
|
|
NM_000520.6(HEXA):c.1A>T (p.Met1Leu)
|
rs121907965
|
|
NM_000520.6(HEXA):c.200G>A (p.Arg67His)
|
|
|
NM_000520.6(HEXA):c.200G>T (p.Arg67Leu)
|
rs1213459678
|
|
NM_000520.6(HEXA):c.203A>G (p.Tyr68Cys)
|
|
|
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter)
|
rs751546658
|
|
NM_000520.6(HEXA):c.211C>T (p.Leu71=)
|
|
|
NM_000520.6(HEXA):c.213G>C (p.Leu71=)
|
rs2140344454
|
|
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn)
|
rs1555475468
|
|
NM_000520.6(HEXA):c.219C>T (p.Phe73=)
|
rs2089055709
|
|
NM_000520.6(HEXA):c.222T>G (p.Gly74=)
|
|
|
NM_000520.6(HEXA):c.225C>G (p.Ser75=)
|
|
|
NM_000520.6(HEXA):c.226_242del (p.Gly76fs)
|
rs2140344404
|
|
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala)
|
rs2089055615
|
|
NM_000520.6(HEXA):c.228G>C (p.Gly76=)
|
|
|
NM_000520.6(HEXA):c.228G>T (p.Gly76=)
|
|
|
NM_000520.6(HEXA):c.228del (p.Ser77fs)
|
|
|
NM_000520.6(HEXA):c.229T>G (p.Ser77Ala)
|
|
|
NM_000520.6(HEXA):c.230C>T (p.Ser77Phe)
|
rs2089055459
|
|
NM_000520.6(HEXA):c.236C>G (p.Pro79Arg)
|
|
|
NM_000520.6(HEXA):c.237_253+7del
|
rs770628999
|
|
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser)
|
rs1240272655
|
|
NM_000520.6(HEXA):c.248T>C (p.Leu83Pro)
|
rs1477850542
|
|
NM_000520.6(HEXA):c.249C>T (p.Leu83=)
|
rs1416793758
|
|
NM_000520.6(HEXA):c.253+1100_253+1948del
|
|
|
NM_000520.6(HEXA):c.253+14G>A
|
|
|
NM_000520.6(HEXA):c.253+18C>T
|
|
|
NM_000520.6(HEXA):c.253+19G>A
|
|
|
NM_000520.6(HEXA):c.253+19G>C
|
rs370680843
|
|
NM_000520.6(HEXA):c.253+20C>A
|
|
|
NM_000520.6(HEXA):c.253+4A>C
|
rs746118260
|
|
NM_000520.6(HEXA):c.253+5G>A
|
|
|
NM_000520.6(HEXA):c.253+5G>T
|
|
|
NM_000520.6(HEXA):c.253+7C>G
|
|
|
NM_000520.6(HEXA):c.253+7C>T
|
rs996974364
|
|
NM_000520.6(HEXA):c.253+8G>C
|
|
|
NM_000520.6(HEXA):c.253+9G>C
|
rs2089054710
|
|
NM_000520.6(HEXA):c.254-10G>A
|
|
|
NM_000520.6(HEXA):c.254-10G>T
|
|
|
NM_000520.6(HEXA):c.254-12C>G
|
|
|
NM_000520.6(HEXA):c.254-15A>T
|
|
|
NM_000520.6(HEXA):c.254-17T>C
|
rs2140329132
|
|
NM_000520.6(HEXA):c.254-1G>C
|
|
|
NM_000520.6(HEXA):c.254-20A>G
|
|
|
NM_000520.6(HEXA):c.254-2A>G
|
rs2088785868
|
|
NM_000520.6(HEXA):c.254G>A (p.Gly85Glu)
|
|
|
NM_000520.6(HEXA):c.259C>A (p.Arg87=)
|
rs573269641
|
|
NM_000520.6(HEXA):c.25dup (p.Ser9fs)
|
|
|
NM_000520.6(HEXA):c.260G>T (p.Arg87Leu)
|
|
|
NM_000520.6(HEXA):c.261G>A (p.Arg87=)
|
rs1298623340
|
|
NM_000520.6(HEXA):c.267A>G (p.Thr89=)
|
|
|
NM_000520.6(HEXA):c.268C>T (p.Leu90=)
|
rs2140329094
|
|
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter)
|
rs769370282
|
|
NM_000520.6(HEXA):c.270G>C (p.Leu90=)
|
|
|
NM_000520.6(HEXA):c.273G>A (p.Glu91=)
|
rs2140329075
|
|
NM_000520.6(HEXA):c.276dup (p.Asn93fs)
|
rs2088785055
|
|
NM_000520.6(HEXA):c.277A>G (p.Asn93Asp)
|
rs2140329070
|
|
NM_000520.6(HEXA):c.27G>T (p.Ser9=)
|
|
|
NM_000520.6(HEXA):c.282G>A (p.Val94=)
|
|
|
NM_000520.6(HEXA):c.285G>C (p.Leu95Phe)
|
|
|
NM_000520.6(HEXA):c.289_290del (p.Val97fs)
|
rs2140329051
|
|
NM_000520.6(HEXA):c.293C>G (p.Ser98Cys)
|
|
|
NM_000520.6(HEXA):c.294T>C (p.Ser98=)
|
|
|
NM_000520.6(HEXA):c.298G>T (p.Val100Phe)
|
rs794727250
|
|
NM_000520.6(HEXA):c.300C>G (p.Val100=)
|
rs2140329021
|
|
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser)
|
rs1217876329
|
|
NM_000520.6(HEXA):c.306T>C (p.Pro102=)
|
|
|
NM_000520.6(HEXA):c.307G>A (p.Gly103Arg)
|
|
|
NM_000520.6(HEXA):c.308G>A (p.Gly103Glu)
|
|
|
NM_000520.6(HEXA):c.309A>T (p.Gly103=)
|
rs1595804037
|
|
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer)
|
rs2088783222
|
|
NM_000520.6(HEXA):c.312T>C (p.Cys104=)
|
rs760781092
|
|
NM_000520.6(HEXA):c.31C>T (p.Leu11=)
|
|
|
NM_000520.6(HEXA):c.32del (p.Leu11fs)
|
rs2140344855
|
|
NM_000520.6(HEXA):c.331G>A (p.Glu111Lys)
|
rs2140328962
|
|
NM_000520.6(HEXA):c.332A>G (p.Glu111Gly)
|
rs2140328958
|
|
NM_000520.6(HEXA):c.336A>G (p.Ser112=)
|
|
|
NM_000520.6(HEXA):c.336A>T (p.Ser112=)
|
|
|
NM_000520.6(HEXA):c.33G>A (p.Leu11=)
|
rs2140344852
|
|
NM_000520.6(HEXA):c.346+10A>G
|
rs2140328935
|
|
NM_000520.6(HEXA):c.346+18C>T
|
|
|
NM_000520.6(HEXA):c.346+1G>A
|
rs797044432
|
|
NM_000520.6(HEXA):c.346+1G>T
|
rs797044432
|
|
NM_000520.6(HEXA):c.346+5G>A
|
rs1414011185
|
|
NM_000520.6(HEXA):c.346+8C>T
|
|
|
NM_000520.6(HEXA):c.347-12_347-11del
|
rs2088766986
|
|
NM_000520.6(HEXA):c.347-17C>A
|
|
|
NM_000520.6(HEXA):c.347-17C>T
|
rs761054655
|
|
NM_000520.6(HEXA):c.347-20G>A
|
rs1055316951
|
|
NM_000520.6(HEXA):c.347-7A>G
|
rs1567300313
|
|
NM_000520.6(HEXA):c.34C>G (p.Leu12Val)
|
|
|
NM_000520.6(HEXA):c.350C>A (p.Thr117Asn)
|
|
|
NM_000520.6(HEXA):c.351C>G (p.Thr117=)
|
|
|
NM_000520.6(HEXA):c.358A>G (p.Ile120Val)
|
rs1567300305
|
|
NM_000520.6(HEXA):c.364G>C (p.Asp122His)
|
|
|
NM_000520.6(HEXA):c.366T>C (p.Asp122=)
|
rs1302430521
|
|
NM_000520.6(HEXA):c.367G>A (p.Asp123Asn)
|
|
|
NM_000520.6(HEXA):c.367G>T (p.Asp123Tyr)
|
rs768750119
|
|
NM_000520.6(HEXA):c.36G>A (p.Leu12=)
|
|
|
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
|
|
|
NM_000520.6(HEXA):c.37G>A (p.Ala13Thr)
|
|
|
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)
|
rs121907975
|
|
NM_000520.6(HEXA):c.381C>A (p.Leu127=)
|
rs1595803351
|
|
NM_000520.6(HEXA):c.381C>T (p.Leu127=)
|
rs1595803351
|
|
NM_000520.6(HEXA):c.386C>G (p.Ser129Cys)
|
|
|
NM_000520.6(HEXA):c.390G>A (p.Glu130=)
|
rs2140328190
|
|
NM_000520.6(HEXA):c.395T>G (p.Val132Gly)
|
|
|
NM_000520.6(HEXA):c.395_398del (p.Val132fs)
|
rs2140328176
|
|
NM_000520.6(HEXA):c.397del (p.Trp133fs)
|
rs2088765656
|
|
NM_000520.6(HEXA):c.3G>A (p.Met1Ile)
|
rs1595816410
|
|
NM_000520.6(HEXA):c.3G>T (p.Met1Ile)
|
|
|
NM_000520.6(HEXA):c.405T>C (p.Ala135=)
|
rs2140328173
|
|
NM_000520.6(HEXA):c.408C>T (p.Leu136=)
|
rs2088765442
|
|
NM_000520.6(HEXA):c.412+10T>C
|
rs2140328149
|
|
NM_000520.6(HEXA):c.412+14G>T
|
|
|
NM_000520.6(HEXA):c.412+16T>A
|
|
|
NM_000520.6(HEXA):c.412+17G>C
|
|
|
NM_000520.6(HEXA):c.412+18A>T
|
|
|
NM_000520.6(HEXA):c.412+1G>T
|
rs2140328162
|
|
NM_000520.6(HEXA):c.412+5C>A
|
rs2088765141
|
|
NM_000520.6(HEXA):c.412+7A>G
|
rs2088764993
|
|
NM_000520.6(HEXA):c.412+9T>C
|
|
|
NM_000520.6(HEXA):c.413-10A>G
|
rs1361722304
|
|
NM_000520.6(HEXA):c.413-12A>G
|
|
|
NM_000520.6(HEXA):c.413-14C>G
|
rs2140326832
|
|
NM_000520.6(HEXA):c.413-16C>T
|
|
|
NM_000520.6(HEXA):c.413-1G>A
|
|
|
NM_000520.6(HEXA):c.413-2A>G
|
rs2088733862
|
|
NM_000520.6(HEXA):c.413-4C>G
|
rs373382175
|
|
NM_000520.6(HEXA):c.414T>C (p.Gly138=)
|
rs1361295729
|
|
NM_000520.6(HEXA):c.417G>A (p.Leu139=)
|
rs1567299634
|
|
NM_000520.6(HEXA):c.417_418delinsTC (p.Glu140Gln)
|
|
|
NM_000520.6(HEXA):c.422del (p.Thr141fs)
|
rs2088733629
|
|
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)
|
rs1057519458
|
|
NM_000520.6(HEXA):c.42A>G (p.Ala14=)
|
rs2089060994
|
|
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter)
|
rs1595802191
|
|
NM_000520.6(HEXA):c.438T>G (p.Val146=)
|
rs2140326788
|
|
NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)
|
|
|
NM_000520.6(HEXA):c.442A>G (p.Lys148Glu)
|
rs2140326779
|
|
NM_000520.6(HEXA):c.44C>T (p.Ala15Val)
|
|
|
NM_000520.6(HEXA):c.450T>C (p.Ala150=)
|
rs1195208193
|
|
NM_000520.6(HEXA):c.459+13_459+14del
|
|
|
NM_000520.6(HEXA):c.459+19A>C
|
|
|
NM_000520.6(HEXA):c.459+1G>A
|
rs2140326761
|
|
NM_000520.6(HEXA):c.459+24G>C
|
|
|
NM_000520.6(HEXA):c.459+2dup
|
rs1555473138
|
|
NM_000520.6(HEXA):c.459+9G>T
|
|
|
NM_000520.6(HEXA):c.460-10T>C
|
|
|
NM_000520.6(HEXA):c.460-11G>A
|
|
|
NM_000520.6(HEXA):c.460-15G>A
|
rs2140326434
|
|
NM_000520.6(HEXA):c.460-17A>G
|
|
|
NM_000520.6(HEXA):c.460-17A>T
|
|
|
NM_000520.6(HEXA):c.460-18A>G
|
|
|
NM_000520.6(HEXA):c.460-19C>T
|
rs1680245631
|
|
NM_000520.6(HEXA):c.460-2A>G
|
|
|
NM_000520.6(HEXA):c.462C>A (p.Phe154Leu)
|
rs1272644968
|
|
NM_000520.6(HEXA):c.465del (p.Phe155fs)
|
rs1057516850
|
|
NM_000520.6(HEXA):c.469A>G (p.Asn157Asp)
|
|
|
NM_000520.6(HEXA):c.472A>G (p.Lys158Glu)
|
|
|
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
|
|
|
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
|
rs2088724627
|
|
NM_000520.6(HEXA):c.492T>C (p.Phe164=)
|
rs2088724431
|
|
NM_000520.6(HEXA):c.492del (p.Arg166fs)
|
rs2140326388
|
|
NM_000520.6(HEXA):c.495C>T (p.Pro165=)
|
|
|
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)
|
|
|
NM_000520.6(HEXA):c.498C>T (p.Arg166=)
|
|
|
NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)
|
|
|
NM_000520.6(HEXA):c.4A>G (p.Thr2Ala)
|
|
|
NM_000520.6(HEXA):c.501T>C (p.Phe167=)
|
|
|
NM_000520.6(HEXA):c.505C>G (p.His169Asp)
|
|
|
NM_000520.6(HEXA):c.50C>T (p.Ala17Val)
|
|
|
NM_000520.6(HEXA):c.510G>A (p.Arg170=)
|
rs760406474
|
|
NM_000520.6(HEXA):c.512G>A (p.Gly171Asp)
|
rs2088723709
|
|
NM_000520.6(HEXA):c.516G>A (p.Leu172=)
|
rs1567299356
|
|
NM_000520.6(HEXA):c.519G>A (p.Leu173=)
|
|
|
NM_000520.6(HEXA):c.519G>C (p.Leu173=)
|
rs771696420
|
|
NM_000520.6(HEXA):c.51A>C (p.Ala17=)
|
rs2140344816
|
|
NM_000520.6(HEXA):c.51_52insAGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA (p.Gly18fs)
|
rs2140344825
|
|
NM_000520.6(HEXA):c.521dup (p.Leu174fs)
|
|
|
NM_000520.6(HEXA):c.524A>G (p.Asp175Gly)
|
|
|
NM_000520.6(HEXA):c.528A>C (p.Thr176=)
|
rs1458388844
|
|
NM_000520.6(HEXA):c.528A>G (p.Thr176=)
|
|
|
NM_000520.6(HEXA):c.538T>C (p.Tyr180His)
|
rs28941771
|
|
NM_000520.6(HEXA):c.540C>T (p.Tyr180=)
|
|
|
NM_000520.6(HEXA):c.541C>T (p.Leu181=)
|
|
|
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro)
|
rs2088722634
|
|
NM_000520.6(HEXA):c.545C>G (p.Pro182Arg)
|
|
|
NM_000520.6(HEXA):c.546dup (p.Leu183fs)
|
rs1595801740
|
|
NM_000520.6(HEXA):c.54A>G (p.Gly18=)
|
|
|
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)
|
rs1555473070
|
|
NM_000520.6(HEXA):c.552T>C (p.Ser184=)
|
rs1387980987
|
|
NM_000520.6(HEXA):c.555C>T (p.Ser185=)
|
|
|
NM_000520.6(HEXA):c.558C>T (p.Ile186=)
|
rs144652159
|
|
NM_000520.6(HEXA):c.559C>T (p.Leu187=)
|
rs1390872805
|
|
NM_000520.6(HEXA):c.566C>G (p.Thr189Ser)
|
|
|
NM_000520.6(HEXA):c.568C>T (p.Leu190=)
|
|
|
NM_000520.6(HEXA):c.568_569del (p.Leu190fs)
|
rs2088721832
|
|
NM_000520.6(HEXA):c.570+10C>A
|
rs1453635996
|
|
NM_000520.6(HEXA):c.570+10C>G
|
rs1453635996
|
|
NM_000520.6(HEXA):c.570+10C>T
|
|
|
NM_000520.6(HEXA):c.570+11C>T
|
|
|
NM_000520.6(HEXA):c.570+16G>A
|
|
|
NM_000520.6(HEXA):c.570+1G>A
|
rs786204754
|
|
NM_000520.6(HEXA):c.570+3A>C
|
|
|
NM_000520.6(HEXA):c.570+7A>C
|
|
|
NM_000520.6(HEXA):c.570+9G>C
|
rs2088721599
|
|
NM_000520.6(HEXA):c.570G>A (p.Leu190=)
|
|
|
NM_000520.6(HEXA):c.571-15C>A
|
rs2140324790
|
|
NM_000520.6(HEXA):c.571-16G>T
|
|
|
NM_000520.6(HEXA):c.571-19T>C
|
|
|
NM_000520.6(HEXA):c.571-4A>G
|
rs2140324768
|
|
NM_000520.6(HEXA):c.571-6C>T
|
|
|
NM_000520.6(HEXA):c.571-7C>T
|
|
|
NM_000520.6(HEXA):c.571-8A>C
|
rs2140324777
|
|
NM_000520.6(HEXA):c.572A>G (p.Asp191Gly)
|
rs2140324755
|
|
NM_000520.6(HEXA):c.576C>T (p.Val192=)
|
|
|
NM_000520.6(HEXA):c.577A>G (p.Met193Val)
|
rs748427632
|
|
NM_000520.6(HEXA):c.57G>C (p.Arg19=)
|
|
|
NM_000520.6(HEXA):c.582G>C (p.Ala194=)
|
rs112614306
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.598G>T (p.Val200Leu)
|
|
|
NM_000520.6(HEXA):c.59C>G (p.Ala20Gly)
|
|
|
NM_000520.6(HEXA):c.59C>T (p.Ala20Val)
|
rs749545037
|
|
NM_000520.6(HEXA):c.603C>T (p.Phe201=)
|
rs767318868
|
|
NM_000520.6(HEXA):c.606C>T (p.His202=)
|
rs2140324709
|
|
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly)
|
rs1002712424
|
|
NM_000520.6(HEXA):c.60G>T (p.Ala20=)
|
|
|
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs)
|
rs1057517296
|
|
NM_000520.6(HEXA):c.617T>C (p.Val206Ala)
|
rs2140324697
|
|
NM_000520.6(HEXA):c.627T>G (p.Pro209=)
|
|
|
NM_000520.6(HEXA):c.629C>A (p.Ser210Tyr)
|
|
|
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)
|
rs121907961
|
|
NM_000520.6(HEXA):c.62C>T (p.Thr21Met)
|
|
|
NM_000520.6(HEXA):c.631_634del (p.Phe211fs)
|
rs2088690227
|
|
NM_000520.6(HEXA):c.633C>T (p.Phe211=)
|
rs2140324675
|
|
NM_000520.6(HEXA):c.637T>C (p.Tyr213His)
|
rs1057519461
|
|
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
|
|
|
NM_000520.6(HEXA):c.63G>A (p.Thr21=)
|
|
|
NM_000520.6(HEXA):c.63G>T (p.Thr21=)
|
|
|
NM_000520.6(HEXA):c.642G>C (p.Glu214Asp)
|
|
|
NM_000520.6(HEXA):c.651T>G (p.Thr217=)
|
rs773807075
|
|
NM_000520.6(HEXA):c.658G>C (p.Glu220Gln)
|
|
|
NM_000520.6(HEXA):c.65C>T (p.Ala22Val)
|
|
|
NM_000520.6(HEXA):c.660G>A (p.Glu220=)
|
rs2140324649
|
|
NM_000520.6(HEXA):c.663C>G (p.Leu221=)
|
|
|
NM_000520.6(HEXA):c.664A>G (p.Met222Val)
|
rs768751360
|
|
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly)
|
rs1595800426
|
|
NM_000520.6(HEXA):c.668G>A (p.Arg223Lys)
|
|
|
NM_000520.6(HEXA):c.66C>T (p.Ala22=)
|
rs990896217
|
|
NM_000520.6(HEXA):c.672+11G>T
|
|
|
NM_000520.6(HEXA):c.672+14T>A
|
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
NM_000520.6(HEXA):c.672+1G>T
|
|
|
NM_000520.6(HEXA):c.672+2T>C
|
rs2140324625
|
|
NM_000520.6(HEXA):c.672+3A>T
|
|
|
NM_000520.6(HEXA):c.672+8C>T
|
|
|
NM_000520.6(HEXA):c.672+9C>G
|
rs2140324618
|
|
NM_000520.6(HEXA):c.672G>A (p.Lys224=)
|
|
|
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)
|
rs780134593
|
|
NM_000520.6(HEXA):c.673-11G>A
|
|
|
NM_000520.6(HEXA):c.673-11G>C
|
|
|
NM_000520.6(HEXA):c.673-16G>C
|
|
|
NM_000520.6(HEXA):c.673-4T>C
|
rs1171895864
|
|
NM_000520.6(HEXA):c.673-60_673-17del
|
rs1183071056
|
|
NM_000520.6(HEXA):c.673-7C>T
|
|
|
NM_000520.6(HEXA):c.675G>T (p.Gly225=)
|
|
|
NM_000520.6(HEXA):c.678C>A (p.Ser226=)
|
rs2140324260
|
|
NM_000520.6(HEXA):c.680A>G (p.Tyr227Cys)
|
|
|
NM_000520.6(HEXA):c.684C>T (p.Asn228=)
|
rs2140324256
|
|
NM_000520.6(HEXA):c.699C>G (p.Ile233Met)
|
rs2140324240
|
|
NM_000520.6(HEXA):c.69C>A (p.Leu23=)
|
|
|
NM_000520.6(HEXA):c.69C>T (p.Leu23=)
|
rs143554538
|
|
NM_000520.6(HEXA):c.701A>G (p.Tyr234Cys)
|
|
|
NM_000520.6(HEXA):c.702C>T (p.Tyr234=)
|
|
|
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)
|
rs150675340
|
|
NM_000520.6(HEXA):c.70T>A (p.Trp24Arg)
|
rs2140344766
|
|
NM_000520.6(HEXA):c.720G>A (p.Lys240=)
|
|
|
NM_000520.6(HEXA):c.723G>A (p.Glu241=)
|
rs1435809210
|
|
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys)
|
rs1555475519
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser)
|
rs758166013
|
|
NM_000520.6(HEXA):c.738A>C (p.Ala246=)
|
rs2140324194
|
|
NM_000520.6(HEXA):c.743del (p.Leu248fs)
|
rs2140324174
|
|
NM_000520.6(HEXA):c.744C>T (p.Leu248=)
|
|
|
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln)
|
rs1297800753
|
|
NM_000520.6(HEXA):c.747G>C (p.Arg249=)
|
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000520.6(HEXA):c.749del (p.Gly250fs)
|
|
|
NM_000520.6(HEXA):c.750T>C (p.Gly250=)
|
rs2088681348
|
|
NM_000520.6(HEXA):c.753C>T (p.Ile251=)
|
|
|
NM_000520.6(HEXA):c.757G>T (p.Val253Leu)
|
|
|
NM_000520.6(HEXA):c.75C>G (p.Pro25=)
|
rs2089060038
|
|
NM_000520.6(HEXA):c.75C>T (p.Pro25=)
|
rs2089060038
|
|
NM_000520.6(HEXA):c.762T>C (p.Leu254=)
|
rs1595800026
|
|
NM_000520.6(HEXA):c.764C>T (p.Ala255Val)
|
|
|
NM_000520.6(HEXA):c.765A>G (p.Ala255=)
|
|
|
NM_000520.6(HEXA):c.768G>A (p.Glu256=)
|
rs1218888083
|
|
NM_000520.6(HEXA):c.775A>G (p.Thr259Ala)
|
rs745997044
|
|
NM_000520.6(HEXA):c.785A>G (p.His262Arg)
|
|
|
NM_000520.6(HEXA):c.787A>G (p.Thr263Ala)
|
|
|
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)
|
rs1057519462
|
|
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)
|
rs121907964
|
|
NM_000520.6(HEXA):c.792G>A (p.Leu264=)
|
rs2140324097
|
|
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)
|
|
|
NM_000520.6(HEXA):c.805+10A>T
|
rs2140324073
|
|
NM_000520.6(HEXA):c.805+12G>T
|
|
|
NM_000520.6(HEXA):c.805+14C>T
|
|
|
NM_000520.6(HEXA):c.805+1G>A
|
rs121907980
|
|
NM_000520.6(HEXA):c.805+8T>C
|
rs2140324076
|
|
NM_000520.6(HEXA):c.805+9G>C
|
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
NM_000520.6(HEXA):c.806-10C>A
|
rs2140323098
|
|
NM_000520.6(HEXA):c.806-11T>C
|
|
|
NM_000520.6(HEXA):c.806-19G>A
|
|
|
NM_000520.6(HEXA):c.806-8T>C
|
rs2140323096
|
|
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)
|
rs2088664194
|
|
NM_000520.6(HEXA):c.80C>T (p.Pro27Leu)
|
|
|
NM_000520.6(HEXA):c.810C>T (p.Ile270=)
|
rs2140323086
|
|
NM_000520.6(HEXA):c.813T>G (p.Pro271=)
|
|
|
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
|
|
|
NM_000520.6(HEXA):c.818T>C (p.Leu273Ser)
|
rs2088664026
|
|
NM_000520.6(HEXA):c.820C>T (p.Leu274=)
|
|
|
NM_000520.6(HEXA):c.823A>G (p.Thr275Ala)
|
|
|
NM_000520.6(HEXA):c.826C>G (p.Pro276Ala)
|
|
|
NM_000520.6(HEXA):c.828T>G (p.Pro276=)
|
|
|
NM_000520.6(HEXA):c.831C>T (p.Cys277=)
|
|
|
NM_000520.6(HEXA):c.833A>G (p.Tyr278Cys)
|
rs772036483
|
|
NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)
|
|
|
NM_000520.6(HEXA):c.843T>C (p.Ser281=)
|
rs2140323055
|
|
NM_000520.6(HEXA):c.846G>A (p.Glu282=)
|
rs1362329720
|
|
NM_000520.6(HEXA):c.848C>T (p.Pro283Leu)
|
|
|
NM_000520.6(HEXA):c.849C>A (p.Pro283=)
|
|
|
NM_000520.6(HEXA):c.849C>G (p.Pro283=)
|
rs2140323045
|
|
NM_000520.6(HEXA):c.849C>T (p.Pro283=)
|
rs2140323045
|
|
NM_000520.6(HEXA):c.855_856insTC (p.Thr286fs)
|
|
|
NM_000520.6(HEXA):c.857C>T (p.Thr286Ile)
|
|
|
NM_000520.6(HEXA):c.858C>T (p.Thr286=)
|
rs748958444
|
|
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)
|
|
|
NM_000520.6(HEXA):c.861T>C (p.Phe287=)
|
|
|
NM_000520.6(HEXA):c.889A>G (p.Thr297Ala)
|
|
|
NM_000520.6(HEXA):c.88T>G (p.Phe30Val)
|
rs2140344740
|
|
NM_000520.6(HEXA):c.893A>G (p.Tyr298Cys)
|
rs1396944040
|
|
NM_000520.6(HEXA):c.896A>C (p.Glu299Ala)
|
|
|
NM_000520.6(HEXA):c.8G>T (p.Ser3Ile)
|
rs374524755
|
|
NM_000520.6(HEXA):c.900C>T (p.Phe300=)
|
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000520.6(HEXA):c.907A>C (p.Thr303Pro)
|
rs759837903
|
|
NM_000520.6(HEXA):c.908C>T (p.Thr303Ile)
|
|
|
NM_000520.6(HEXA):c.909A>G (p.Thr303=)
|
|
|
NM_000520.6(HEXA):c.909A>T (p.Thr303=)
|
rs2088661576
|
|
NM_000520.6(HEXA):c.912C>T (p.Phe304=)
|
rs1385655581
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000520.6(HEXA):c.913T>C (p.Phe305Leu)
|
|
|
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter)
|
rs556872918
|
|
NM_000520.6(HEXA):c.921A>G (p.Glu307=)
|
rs1457483877
|
|
NM_000520.6(HEXA):c.924C>T (p.Val308=)
|
rs2140322950
|
|
NM_000520.6(HEXA):c.926G>A (p.Ser309Asn)
|
rs2088661242
|
|
NM_000520.6(HEXA):c.926G>C (p.Ser309Thr)
|
|
|
NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)
|
|
|
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)
|
rs751248523
|
|
NM_000520.6(HEXA):c.930T>C (p.Ser310=)
|
|
|
NM_000520.6(HEXA):c.931_942del (p.Val311_Asp314del)
|
|
|
NM_000520.6(HEXA):c.933C>T (p.Val311=)
|
rs2088661117
|
|
NM_000520.6(HEXA):c.936C>T (p.Phe312=)
|
|
|
NM_000520.6(HEXA):c.938del (p.Pro313fs)
|
rs2140322934
|
|
NM_000520.6(HEXA):c.939A>G (p.Pro313=)
|
|
|
NM_000520.6(HEXA):c.947A>G (p.Tyr316Cys)
|
|
|
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)
|
rs1316178162
|
|
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn)
|
rs772180415
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)
|
|
|
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
|
|
|
NM_000520.6(HEXA):c.967G>T (p.Glu323Ter)
|
|
|
NM_000520.6(HEXA):c.969G>A (p.Glu323=)
|
|
|
NM_000520.6(HEXA):c.96C>G (p.Thr32=)
|
|
|
NM_000520.6(HEXA):c.96C>T (p.Thr32=)
|
rs2140344723
|
|
NM_000520.6(HEXA):c.984C>T (p.Cys328=)
|
|
|
NM_000520.6(HEXA):c.986+10C>A
|
|
|
NM_000520.6(HEXA):c.986+1G>A
|
rs2140322856
|
|
NM_000520.6(HEXA):c.986+1G>C
|
rs2140322856
|
|
NM_000520.6(HEXA):c.986+20C>A
|
|
|
NM_000520.6(HEXA):c.986+6A>T
|
|
|
NM_000520.6(HEXA):c.986+7G>C
|
|
|
NM_000520.6(HEXA):c.986+8C>T
|
rs2140322848
|
|
NM_000520.6(HEXA):c.986+9C>A
|
|
|
NM_000520.6(HEXA):c.986G>A (p.Trp329Ter)
|
|
|
NM_000520.6(HEXA):c.987-12C>T
|
|
|
NM_000520.6(HEXA):c.987-19A>T
|
|
|
NM_000520.6(HEXA):c.98C>G (p.Ser33Cys)
|
rs1416996557
|
|
NM_000520.6(HEXA):c.994A>C (p.Asn332His)
|
|
|
NM_000520.6(HEXA):c.995A>T (p.Asn332Ile)
|
rs2140322212
|
|
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
|
|
|
NM_000520.6(HEXA):c.997C>G (p.Pro333Ala)
|
|
|
NM_000520.6(HEXA):c.99C>A (p.Ser33=)
|
rs2140344713
|
|
NM_000520.6(HEXA):c.99C>T (p.Ser33=)
|
|
|
NM_000521.3(HEXB):c.773del
|
rs1373278959
|
|
NM_000521.4(HEXB):c.*82_*83del
|
rs56312827
|
|
NM_000521.4(HEXB):c.1005A>G (p.Thr335=)
|
|
|
NM_000521.4(HEXB):c.1010dup (p.Lys338fs)
|
rs1579952143
|
|
NM_000521.4(HEXB):c.1017_1018del (p.Glu339fs)
|
rs2112175206
|
|
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs)
|
rs1749651392
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.1024del (p.Glu342fs)
|
rs2112175228
|
|
NM_000521.4(HEXB):c.1026G>A (p.Glu342=)
|
rs2112175234
|
|
NM_000521.4(HEXB):c.1027G>C (p.Val343Leu)
|
rs774657424
|
|
NM_000521.4(HEXB):c.1029G>A (p.Val343=)
|
rs767987520
|
|
NM_000521.4(HEXB):c.1029G>C (p.Val343=)
|
rs767987520
|
|
NM_000521.4(HEXB):c.102G>T (p.Ala34=)
|
|
|
NM_000521.4(HEXB):c.1048C>G (p.His350Asp)
|
|
|
NM_000521.4(HEXB):c.1050T>C (p.His350=)
|
|
|
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe)
|
|
|
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)
|
rs1749652995
|
|
NM_000521.4(HEXB):c.1062T>C (p.Asp354=)
|
rs1749653155
|
|
NM_000521.4(HEXB):c.1066G>A (p.Val356Met)
|
|
|
NM_000521.4(HEXB):c.1082+12C>T
|
|
|
NM_000521.4(HEXB):c.1082+13C>A
|
|
|
NM_000521.4(HEXB):c.1082+20C>G
|
|
|
NM_000521.4(HEXB):c.1082+2T>C
|
rs989299922
|
|
NM_000521.4(HEXB):c.1082+7T>A
|
rs1249872768
|
|
NM_000521.4(HEXB):c.1082+7T>C
|
|
|
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)
|
rs1361998528
|
|
NM_000521.4(HEXB):c.1083-10T>A
|
rs2112176963
|
|
NM_000521.4(HEXB):c.1083-12T>G
|
|
|
NM_000521.4(HEXB):c.1083-15C>A
|
|
|
NM_000521.4(HEXB):c.1083-6C>G
|
|
|
NM_000521.4(HEXB):c.1086A>G (p.Glu362=)
|
rs2112176992
|
|
NM_000521.4(HEXB):c.108G>A (p.Val36=)
|
rs1275258823
|
|
NM_000521.4(HEXB):c.109G>T (p.Val37Leu)
|
|
|
NM_000521.4(HEXB):c.1101T>C (p.Ile367=)
|
rs1749677760
|
|
NM_000521.4(HEXB):c.1104A>C (p.Gln368His)
|
|
|
NM_000521.4(HEXB):c.1107T>C (p.Asp369=)
|
|
|
NM_000521.4(HEXB):c.1125C>T (p.Gly375=)
|
|
|
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile)
|
|
|
NM_000521.4(HEXB):c.1134A>G (p.Thr378=)
|
|
|
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter)
|
rs1306678448
|
|
NM_000521.4(HEXB):c.1149A>G (p.Leu383=)
|
rs1336014813
|
|
NM_000521.4(HEXB):c.114G>A (p.Gln38=)
|
|
|
NM_000521.4(HEXB):c.1155T>C (p.Ser385=)
|
|
|
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs)
|
rs1272697701
|
|
NM_000521.4(HEXB):c.1158C>T (p.Phe386=)
|
|
|
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer)
|
rs2112177114
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000521.4(HEXB):c.1161C>T (p.Tyr387=)
|
rs2112177152
|
|
NM_000521.4(HEXB):c.1169+18C>T
|
|
|
NM_000521.4(HEXB):c.1169+1G>A
|
|
|
NM_000521.4(HEXB):c.1169+1G>C
|
rs2112177192
|
|
NM_000521.4(HEXB):c.1169+3_1169+10del
|
rs398123444
|
|
NM_000521.4(HEXB):c.1169+5G>C
|
|
|
NM_000521.4(HEXB):c.1169+8G>A
|
|
|
NM_000521.4(HEXB):c.1169+8G>T
|
rs778530133
|
|
NM_000521.4(HEXB):c.1170-10G>A
|
|
|
NM_000521.4(HEXB):c.1170-11T>C
|
|
|
NM_000521.4(HEXB):c.1170-11T>G
|
|
|
NM_000521.4(HEXB):c.1170-11del
|
|
|
NM_000521.4(HEXB):c.1170-11dup
|
|
|
NM_000521.4(HEXB):c.1170-12T>G
|
|
|
NM_000521.4(HEXB):c.1170-16T>A
|
|
|
NM_000521.4(HEXB):c.1170-16T>G
|
|
|
NM_000521.4(HEXB):c.1170-17T>A
|
|
|
NM_000521.4(HEXB):c.1170-18A>C
|
|
|
NM_000521.4(HEXB):c.1170-18A>T
|
|
|
NM_000521.4(HEXB):c.1170-4C>T
|
rs2112179635
|
|
NM_000521.4(HEXB):c.1170-5A>C
|
|
|
NM_000521.4(HEXB):c.1170-6T>C
|
rs2112179633
|
|
NM_000521.4(HEXB):c.1170-9T>A
|
|
|
NM_000521.4(HEXB):c.117G>T (p.Val39=)
|
|
|
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser)
|
|
|
NM_000521.4(HEXB):c.1191C>T (p.Thr397=)
|
|
|
NM_000521.4(HEXB):c.120G>A (p.Ala40=)
|
|
|
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)
|
|
|
NM_000521.4(HEXB):c.1227dup (p.Asp410Ter)
|
|
|
NM_000521.4(HEXB):c.1242+10G>A
|
|
|
NM_000521.4(HEXB):c.1242+18T>C
|
|
|
NM_000521.4(HEXB):c.1242+3G>A
|
|
|
NM_000521.4(HEXB):c.1242+9dup
|
|
|
NM_000521.4(HEXB):c.1243-15T>C
|
|
|
NM_000521.4(HEXB):c.1243-18A>C
|
|
|
NM_000521.4(HEXB):c.1243-20G>A
|
|
|
NM_000521.4(HEXB):c.1243-9C>A
|
|
|
NM_000521.4(HEXB):c.1243-9C>T
|
rs771008510
|
|
NM_000521.4(HEXB):c.1251G>C (p.Pro417=)
|
|
|
NM_000521.4(HEXB):c.1251G>T (p.Pro417=)
|
rs144264311
|
|
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg)
|
|
|
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp)
|
|
|
NM_000521.4(HEXB):c.1263T>G (p.Val421=)
|
rs1454392093
|
|
NM_000521.4(HEXB):c.1264dup (p.Glu422fs)
|
rs2112180571
|
|
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val)
|
rs757550590
|
|
NM_000521.4(HEXB):c.126G>T (p.Ala42=)
|
rs1457481809
|
|
NM_000521.4(HEXB):c.1275A>G (p.Lys425=)
|
rs2112180604
|
|
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn)
|
|
|
NM_000521.4(HEXB):c.1276G>C (p.Asp426His)
|
|
|
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs)
|
rs2112180614
|
|
NM_000521.4(HEXB):c.1284A>G (p.Ala428=)
|
|
|
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs)
|
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000521.4(HEXB):c.1296A>G (p.Glu432=)
|
rs1456292951
|
|
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs)
|
rs2112180705
|
|
NM_000521.4(HEXB):c.12C>T (p.Cys4=)
|
rs2112122203
|
|
NM_000521.4(HEXB):c.1303_1304insT (p.Arg435fs)
|
rs2112180739
|
|
NM_000521.4(HEXB):c.1303del (p.Arg435fs)
|
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)
|
|
|
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs)
|
rs761240717
|
|
NM_000521.4(HEXB):c.1314A>G (p.Ala438=)
|
|
|
NM_000521.4(HEXB):c.1320C>G (p.Gly440=)
|
rs976848045
|
|
NM_000521.4(HEXB):c.1320C>T (p.Gly440=)
|
|
|
NM_000521.4(HEXB):c.1335T>G (p.Leu445=)
|
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
NM_000521.4(HEXB):c.1350C>T (p.Tyr450=)
|
|
|
NM_000521.4(HEXB):c.135C>T (p.Ala45=)
|
rs1748837958
|
|
NM_000521.4(HEXB):c.1362T>A (p.Ile454=)
|
rs552896059
|
|
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg)
|
rs2112180879
|
|
NM_000521.4(HEXB):c.1365C>T (p.Ser455=)
|
|
|
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala)
|
rs1392645389
|
|
NM_000521.4(HEXB):c.1377T>C (p.Asp459=)
|
|
|
NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)
|
|
|
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)
|
rs1554036943
|
|
NM_000521.4(HEXB):c.1389_1393del (p.Tyr463_Lys465delinsTer)
|
rs2112180944
|
|
NM_000521.4(HEXB):c.138G>A (p.Pro46=)
|
rs1378693652
|
|
NM_000521.4(HEXB):c.1398G>A (p.Val466=)
|
|
|
NM_000521.4(HEXB):c.1404del (p.Asp470fs)
|
rs2112180987
|
|
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)
|
|
|
NM_000521.4(HEXB):c.1416C>T (p.Gly472=)
|
|
|
NM_000521.4(HEXB):c.1417+19C>T
|
|
|
NM_000521.4(HEXB):c.1417+9A>G
|
rs755763718
|
|
NM_000521.4(HEXB):c.1418-11T>C
|
|
|
NM_000521.4(HEXB):c.1418-12_1418del
|
rs1554037076
|
|
NM_000521.4(HEXB):c.1418-13G>T
|
|
|
NM_000521.4(HEXB):c.1418-15A>G
|
|
|
NM_000521.4(HEXB):c.1418-15A>T
|
|
|
NM_000521.4(HEXB):c.1418-16A>G
|
|
|
NM_000521.4(HEXB):c.1418-18_1418-14del
|
|
|
NM_000521.4(HEXB):c.1418-21_1418-19del
|
|
|
NM_000521.4(HEXB):c.1431_1432del (p.Lys478fs)
|
|
|
NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs)
|
|
|
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
|
|
|
NM_000521.4(HEXB):c.1437A>G (p.Gln479=)
|
rs139129900
|
|
NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs)
|
|
|
NM_000521.4(HEXB):c.1464A>G (p.Leu488=)
|
|
|
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg)
|
|
|
NM_000521.4(HEXB):c.1469del (p.Gly490fs)
|
|
|
NM_000521.4(HEXB):c.1469dup (p.Glu491fs)
|
|
|
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)
|
|
|
NM_000521.4(HEXB):c.1473A>G (p.Glu491=)
|
|
|
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs)
|
rs1749803258
|
|
NM_000521.4(HEXB):c.1476T>C (p.Tyr492=)
|
|
|
NM_000521.4(HEXB):c.1479G>A (p.Val493=)
|
|
|
NM_000521.4(HEXB):c.147G>A (p.Ser49=)
|
|
|
NM_000521.4(HEXB):c.147G>C (p.Ser49=)
|
|
|
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe)
|
|
|
NM_000521.4(HEXB):c.1494C>G (p.Leu498=)
|
rs149960235
|
|
NM_000521.4(HEXB):c.1494C>T (p.Leu498=)
|
rs149960235
|
|
NM_000521.4(HEXB):c.1500A>G (p.Pro500=)
|
rs2112185426
|
|
NM_000521.4(HEXB):c.1508+11T>C
|
|
|
NM_000521.4(HEXB):c.1508+12A>G
|
|
|
NM_000521.4(HEXB):c.1508+15T>C
|
|
|
NM_000521.4(HEXB):c.1508+18T>C
|
|
|
NM_000521.4(HEXB):c.1508+6G>C
|
|
|
NM_000521.4(HEXB):c.1509-10T>C
|
|
|
NM_000521.4(HEXB):c.1509-12T>A
|
|
|
NM_000521.4(HEXB):c.1509-12T>C
|
|
|
NM_000521.4(HEXB):c.1509-15T>C
|
|
|
NM_000521.4(HEXB):c.1509-18G>A
|
|
|
NM_000521.4(HEXB):c.1509-20A>T
|
|
|
NM_000521.4(HEXB):c.1509-21_1509-13del
|
|
|
NM_000521.4(HEXB):c.1509-21del
|
rs747523020
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000521.4(HEXB):c.1509-26G>C
|
rs201580118
|
|
NM_000521.4(HEXB):c.1509-4T>C
|
rs2112185863
|
|
NM_000521.4(HEXB):c.1509-7A>T
|
rs2112185850
|
|
NM_000521.4(HEXB):c.1509-7dup
|
rs1749809709
|
|
NM_000521.4(HEXB):c.1509-8A>T
|
|
|
NM_000521.4(HEXB):c.150C>T (p.Ala50=)
|
rs779421706
|
|
NM_000521.4(HEXB):c.1512T>C (p.Pro504=)
|
rs1469774539
|
|
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro)
|
rs121907983
|
|
NM_000521.4(HEXB):c.1518A>C (p.Ala506=)
|
|
|
NM_000521.4(HEXB):c.1534A>C (p.Arg512=)
|
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.1539C>T (p.Leu513=)
|
rs1258974496
|
|
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs)
|
rs1554037129
|
|
NM_000521.4(HEXB):c.1560A>G (p.Arg520=)
|
rs1184573477
|
|
NM_000521.4(HEXB):c.1563T>C (p.Asp521=)
|
rs2112186134
|
|
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs)
|
rs1749812910
|
|
NM_000521.4(HEXB):c.1569T>C (p.Asp523=)
|
|
|
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)
|
|
|
NM_000521.4(HEXB):c.1575C>T (p.Ala525=)
|
|
|
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)
|
rs1554037137
|
|
NM_000521.4(HEXB):c.1577_1578del (p.Ala525_Tyr526insTer)
|
|
|
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter)
|
rs1460801055
|
|
NM_000521.4(HEXB):c.1581C>T (p.Asp527=)
|
|
|
NM_000521.4(HEXB):c.1586_1589del (p.Leu529fs)
|
rs2112186316
|
|
NM_000521.4(HEXB):c.1593G>A (p.Arg531=)
|
|
|
NM_000521.4(HEXB):c.159G>A (p.Gly53=)
|
rs1428463982
|
|
NM_000521.4(HEXB):c.15G>T (p.Gly5=)
|
|
|
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)
|
|
|
NM_000521.4(HEXB):c.1605G>A (p.Arg535=)
|
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)
|
|
|
NM_000521.4(HEXB):c.1611C>T (p.Val537=)
|
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1613+10del
|
rs2112186585
|
|
NM_000521.4(HEXB):c.1613+11T>G
|
|
|
NM_000521.4(HEXB):c.1613+13_1613+15del
|
|
|
NM_000521.4(HEXB):c.1613+14T>A
|
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.1613+15_1613+16dup
|
|
|
NM_000521.4(HEXB):c.1613+15_1613+19dup
|
|
|
NM_000521.4(HEXB):c.1613+17G>T
|
|
|
NM_000521.4(HEXB):c.1613+19C>G
|
|
|
NM_000521.4(HEXB):c.1613+19C>T
|
|
|
NM_000521.4(HEXB):c.1613+6_1613+21dup
|
rs2112186573
|
|
NM_000521.4(HEXB):c.1613+7_1613+21dup
|
|
|
NM_000521.4(HEXB):c.1613+8A>C
|
|
|
NM_000521.4(HEXB):c.1614-19_1614-18del
|
|
|
NM_000521.4(HEXB):c.1614-6C>T
|
|
|
NM_000521.4(HEXB):c.1614-6_1628dup
|
rs2112188881
|
|
NM_000521.4(HEXB):c.1614-7_1614-1dup
|
rs2112188865
|
|
NM_000521.4(HEXB):c.1614-7dup
|
rs2112188857
|
|
NM_000521.4(HEXB):c.1614-8A>G
|
rs745567727
|
|
NM_000521.4(HEXB):c.1614-9T>C
|
|
|
NM_000521.4(HEXB):c.1617T>A (p.Arg539=)
|
|
|
NM_000521.4(HEXB):c.1626T>C (p.Ala542=)
|
|
|
NM_000521.4(HEXB):c.1629A>G (p.Ala543=)
|
|
|
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys)
|
rs766477016
|
|
NM_000521.4(HEXB):c.1635T>G (p.Pro545=)
|
|
|
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro)
|
rs1749847397
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
NM_000521.4(HEXB):c.1641T>C (p.Tyr547=)
|
rs2112189098
|
|
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer)
|
rs2112189087
|
|
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs)
|
rs1749847524
|
|
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)
|
|
|
NM_000521.4(HEXB):c.164C>T (p.Ala55Val)
|
|
|
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)
|
rs727503961
|
|
NM_000521.4(HEXB):c.1653T>C (p.Cys551=)
|
|
|
NM_000521.4(HEXB):c.165G>T (p.Ala55=)
|
|
|
NM_000521.4(HEXB):c.166C>T (p.Leu56=)
|
|
|
NM_000521.4(HEXB):c.1671A>G (p.Ter557=)
|
|
|
NM_000521.4(HEXB):c.16C>T (p.Leu6=)
|
rs1580376985
|
|
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)
|
rs1114167287
|
|
NM_000521.4(HEXB):c.171del (p.Trp57fs)
|
rs771973471
|
|
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro)
|
rs774155487
|
|
NM_000521.4(HEXB):c.181C>T (p.Leu61Phe)
|
|
|
NM_000521.4(HEXB):c.201G>A (p.Pro67=)
|
rs371914695
|
|
NM_000521.4(HEXB):c.201del (p.Asn68fs)
|
|
|
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)
|
|
|
NM_000521.4(HEXB):c.219C>A (p.Ala73=)
|
|
|
NM_000521.4(HEXB):c.219C>G (p.Ala73=)
|
rs771754401
|
|
NM_000521.4(HEXB):c.21G>A (p.Gly7=)
|
|
|
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg)
|
|
|
NM_000521.4(HEXB):c.230_232del (p.Phe77del)
|
rs1554034490
|
|
NM_000521.4(HEXB):c.231C>T (p.Phe77=)
|
|
|
NM_000521.4(HEXB):c.234C>T (p.Tyr78=)
|
|
|
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr)
|
|
|
NM_000521.4(HEXB):c.240C>T (p.Ser80=)
|
rs2112123022
|
|
NM_000521.4(HEXB):c.250A>C (p.Asn84His)
|
|
|
NM_000521.4(HEXB):c.255C>T (p.Ser85=)
|
|
|
NM_000521.4(HEXB):c.261G>A (p.Ala87=)
|
|
|
NM_000521.4(HEXB):c.264C>A (p.Gly88=)
|
|
|
NM_000521.4(HEXB):c.264C>G (p.Gly88=)
|
|
|
NM_000521.4(HEXB):c.267C>T (p.Pro89=)
|
|
|
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys)
|
|
|
NM_000521.4(HEXB):c.276C>A (p.Thr92=)
|
rs140509633
|
|
NM_000521.4(HEXB):c.282G>A (p.Leu94=)
|
|
|
NM_000521.4(HEXB):c.283del (p.Glu95fs)
|
rs1748845774
|
|
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr)
|
|
|
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter)
|
rs1007338250
|
|
NM_000521.4(HEXB):c.298del (p.Arg100fs)
|
rs886039499
|
|
NM_000521.4(HEXB):c.299+12C>T
|
|
|
NM_000521.4(HEXB):c.299+14G>A
|
|
|
NM_000521.4(HEXB):c.299+15_299+23del
|
|
|
NM_000521.4(HEXB):c.299+17C>A
|
|
|
NM_000521.4(HEXB):c.299+17C>G
|
|
|
NM_000521.4(HEXB):c.299+18G>T
|
|
|
NM_000521.4(HEXB):c.299+19G>A
|
|
|
NM_000521.4(HEXB):c.300-18C>T
|
|
|
NM_000521.4(HEXB):c.300-1G>A
|
rs967720287
|
|
NM_000521.4(HEXB):c.300-1G>C
|
rs967720287
|
|
NM_000521.4(HEXB):c.300-20T>C
|
|
|
NM_000521.4(HEXB):c.300-4dup
|
|
|
NM_000521.4(HEXB):c.300-6A>G
|
|
|
NM_000521.4(HEXB):c.300-7C>T
|
rs2112129012
|
|
NM_000521.4(HEXB):c.300A>C (p.Arg100=)
|
rs1303786596
|
|
NM_000521.4(HEXB):c.302A>G (p.Tyr101Cys)
|
rs1748942839
|
|
NM_000521.4(HEXB):c.303T>C (p.Tyr101=)
|
rs768307371
|
|
NM_000521.4(HEXB):c.306T>C (p.His102=)
|
|
|
NM_000521.4(HEXB):c.321T>A (p.Gly107=)
|
|
|
NM_000521.4(HEXB):c.32C>T (p.Pro11Leu)
|
|
|
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)
|
rs1748943719
|
|
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter)
|
rs761117459
|
|
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys)
|
|
|
NM_000521.4(HEXB):c.339T>C (p.His113=)
|
rs1748944024
|
|
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
|
|
|
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)
|
rs760427424
|
|
NM_000521.4(HEXB):c.345T>C (p.Pro115=)
|
rs1467307393
|
|
NM_000521.4(HEXB):c.378A>G (p.Gln126=)
|
rs2112129226
|
|
NM_000521.4(HEXB):c.381T>C (p.Leu127=)
|
rs2112129230
|
|
NM_000521.4(HEXB):c.387C>G (p.Val129=)
|
|
|
NM_000521.4(HEXB):c.390A>C (p.Ser130=)
|
rs1748945386
|
|
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser)
|
rs1748945643
|
|
NM_000521.4(HEXB):c.408G>A (p.Glu136=)
|
|
|
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
|
|
|
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser)
|
|
|
NM_000521.4(HEXB):c.42G>A (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.42G>C (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.42G>T (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)
|
|
|
NM_000521.4(HEXB):c.441G>A (p.Glu147=)
|
|
|
NM_000521.4(HEXB):c.444T>G (p.Ser148=)
|
|
|
NM_000521.4(HEXB):c.445+11A>G
|
|
|
NM_000521.4(HEXB):c.445+12T>C
|
|
|
NM_000521.4(HEXB):c.445+12T>G
|
|
|
NM_000521.4(HEXB):c.445+14C>T
|
|
|
NM_000521.4(HEXB):c.445+16A>G
|
|
|
NM_000521.4(HEXB):c.445+1G>A
|
rs761197472
|
|
NM_000521.4(HEXB):c.445+1G>C
|
rs761197472
|
|
NM_000521.4(HEXB):c.445+7A>G
|
rs2112129385
|
|
NM_000521.4(HEXB):c.445+8C>T
|
|
|
NM_000521.4(HEXB):c.446-12T>C
|
|
|
NM_000521.4(HEXB):c.446-16dup
|
|
|
NM_000521.4(HEXB):c.446-21_446-14del
|
|
|
NM_000521.4(HEXB):c.446-4A>G
|
|
|
NM_000521.4(HEXB):c.446-6A>T
|
rs763290427
|
|
NM_000521.4(HEXB):c.446-7A>G
|
rs775644956
|
|
NM_000521.4(HEXB):c.450T>A (p.Thr150=)
|
rs2112135859
|
|
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs)
|
rs1749049871
|
|
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)
|
rs2112135868
|
|
NM_000521.4(HEXB):c.477C>T (p.Val159=)
|
|
|
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser)
|
|
|
NM_000521.4(HEXB):c.495T>C (p.Val165=)
|
|
|
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala)
|
rs951616685
|
|
NM_000521.4(HEXB):c.504A>C (p.Ala168=)
|
rs993517054
|
|
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln)
|
|
|
NM_000521.4(HEXB):c.511+10A>C
|
rs1172289714
|
|
NM_000521.4(HEXB):c.511+10A>G
|
|
|
NM_000521.4(HEXB):c.511+14A>G
|
|
|
NM_000521.4(HEXB):c.511+16T>G
|
|
|
NM_000521.4(HEXB):c.511+7T>C
|
|
|
NM_000521.4(HEXB):c.512-12T>C
|
|
|
NM_000521.4(HEXB):c.512-18A>G
|
|
|
NM_000521.4(HEXB):c.516A>G (p.Leu172=)
|
|
|
NM_000521.4(HEXB):c.519G>A (p.Glu173=)
|
rs1422448735
|
|
NM_000521.4(HEXB):c.522C>A (p.Thr174=)
|
|
|
NM_000521.4(HEXB):c.52C>T (p.Leu18=)
|
|
|
NM_000521.4(HEXB):c.531G>A (p.Gln177=)
|
rs923395829
|
|
NM_000521.4(HEXB):c.534A>G (p.Leu178=)
|
|
|
NM_000521.4(HEXB):c.534_537del (p.Leu178fs)
|
|
|
NM_000521.4(HEXB):c.535_538del (p.Val179fs)
|
|
|
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys)
|
|
|
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro)
|
rs1177358563
|
|
NM_000521.4(HEXB):c.552T>C (p.Tyr184=)
|
rs573447174
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
NM_000521.4(HEXB):c.558+10A>G
|
|
|
NM_000521.4(HEXB):c.558+16A>T
|
|
|
NM_000521.4(HEXB):c.558+18_558+19del
|
|
|
NM_000521.4(HEXB):c.558+19T>C
|
|
|
NM_000521.4(HEXB):c.558+1G>C
|
rs1198764997
|
|
NM_000521.4(HEXB):c.558+7A>G
|
|
|
NM_000521.4(HEXB):c.558+7A>T
|
rs1252577576
|
|
NM_000521.4(HEXB):c.559-11T>C
|
|
|
NM_000521.4(HEXB):c.559-18A>G
|
|
|
NM_000521.4(HEXB):c.559-18A>T
|
rs374665376
|
|
NM_000521.4(HEXB):c.559-1G>A
|
|
|
NM_000521.4(HEXB):c.559-1G>T
|
rs1311903314
|
|
NM_000521.4(HEXB):c.559-4A>G
|
rs1417706193
|
|
NM_000521.4(HEXB):c.55T>C (p.Leu19=)
|
rs2112122357
|
|
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile)
|
rs1352027066
|
|
NM_000521.4(HEXB):c.565A>G (p.Ile189Val)
|
|
|
NM_000521.4(HEXB):c.567C>A (p.Ile189=)
|
rs2112141498
|
|
NM_000521.4(HEXB):c.567C>T (p.Ile189=)
|
rs2112141498
|
|
NM_000521.4(HEXB):c.571_574del (p.Glu191fs)
|
rs1749127843
|
|
NM_000521.4(HEXB):c.582T>C (p.Ile194=)
|
rs2112141535
|
|
NM_000521.4(HEXB):c.591T>C (p.Ser197=)
|
|
|
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser)
|
|
|
NM_000521.4(HEXB):c.594A>G (p.Pro198=)
|
|
|
NM_000521.4(HEXB):c.597G>A (p.Arg199=)
|
rs1206573829
|
|
NM_000521.4(HEXB):c.60G>A (p.Ala20=)
|
|
|
NM_000521.4(HEXB):c.630C>T (p.Ser210=)
|
|
|
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)
|
|
|
NM_000521.4(HEXB):c.63A>G (p.Thr21=)
|
|
|
NM_000521.4(HEXB):c.646G>A (p.Val216Ile)
|
|
|
NM_000521.4(HEXB):c.64C>T (p.Leu22=)
|
|
|
NM_000521.4(HEXB):c.64_65del (p.Leu22fs)
|
rs1748834145
|
|
NM_000521.4(HEXB):c.654T>A (p.Ile218=)
|
rs1395527567
|
|
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro)
|
rs1749130818
|
|
NM_000521.4(HEXB):c.660T>G (p.Leu220=)
|
rs914649805
|
|
NM_000521.4(HEXB):c.669+10T>C
|
rs2112141738
|
|
NM_000521.4(HEXB):c.669+10T>G
|
rs2112141738
|
|
NM_000521.4(HEXB):c.669+12C>T
|
|
|
NM_000521.4(HEXB):c.669+16A>G
|
|
|
NM_000521.4(HEXB):c.670-10T>C
|
|
|
NM_000521.4(HEXB):c.670-10T>G
|
rs763971063
|
|
NM_000521.4(HEXB):c.670-13T>C
|
|
|
NM_000521.4(HEXB):c.670-14A>T
|
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
NM_000521.4(HEXB):c.670-6T>C
|
|
|
NM_000521.4(HEXB):c.670-8G>A
|
rs2112156271
|
|
NM_000521.4(HEXB):c.670-9T>G
|
rs2112156269
|
|
NM_000521.4(HEXB):c.675C>T (p.Ala225=)
|
|
|
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp)
|
|
|
NM_000521.4(HEXB):c.699T>C (p.Val233=)
|
|
|
NM_000521.4(HEXB):c.69G>A (p.Leu23=)
|
rs1453045657
|
|
NM_000521.4(HEXB):c.705C>G (p.His235Gln)
|
rs2112156345
|
|
NM_000521.4(HEXB):c.705C>T (p.His235=)
|
rs2112156345
|
|
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)
|
|
|
NM_000521.4(HEXB):c.710A>G (p.His237Arg)
|
|
|
NM_000521.4(HEXB):c.711C>T (p.His237=)
|
|
|
NM_000521.4(HEXB):c.729T>C (p.Ser243=)
|
|
|
NM_000521.4(HEXB):c.72G>A (p.Ala24=)
|
|
|
NM_000521.4(HEXB):c.731del (p.Phe244fs)
|
rs2112156393
|
|
NM_000521.4(HEXB):c.735A>T (p.Pro245=)
|
rs758398934
|
|
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
|
|
|
NM_000521.4(HEXB):c.758del (p.Glu253fs)
|
|
|
NM_000521.4(HEXB):c.759G>A (p.Glu253=)
|
|
|
NM_000521.4(HEXB):c.75G>A (p.Ala25=)
|
rs1416490499
|
|
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)
|
rs771103635
|
|
NM_000521.4(HEXB):c.76del (p.Met26fs)
|
rs1580377105
|
|
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr)
|
|
|
NM_000521.4(HEXB):c.771+10T>C
|
|
|
NM_000521.4(HEXB):c.771+14A>G
|
|
|
NM_000521.4(HEXB):c.771+17G>C
|
|
|
NM_000521.4(HEXB):c.771+20C>G
|
|
|
NM_000521.4(HEXB):c.771+20C>T
|
|
|
NM_000521.4(HEXB):c.771+8A>C
|
|
|
NM_000521.4(HEXB):c.771+9A>G
|
rs768648039
|
|
NM_000521.4(HEXB):c.772-12T>C
|
|
|
NM_000521.4(HEXB):c.772-2A>C
|
|
|
NM_000521.4(HEXB):c.772-5T>C
|
rs2112171612
|
|
NM_000521.4(HEXB):c.772-8T>C
|
rs540508015
|
|
NM_000521.4(HEXB):c.782_785del (p.Ser261fs)
|
rs1312009126
|
|
NM_000521.4(HEXB):c.78G>A (p.Met26Ile)
|
rs886060750
|
|
NM_000521.4(HEXB):c.790C>T (p.His264Tyr)
|
|
|
NM_000521.4(HEXB):c.79T>C (p.Leu27=)
|
|
|
NM_000521.4(HEXB):c.7C>T (p.Leu3=)
|
|
|
NM_000521.4(HEXB):c.801A>G (p.Thr267=)
|
|
|
NM_000521.4(HEXB):c.810T>C (p.Asp270=)
|
|
|
NM_000521.4(HEXB):c.811G>A (p.Val271Ile)
|
|
|
NM_000521.4(HEXB):c.817A>G (p.Met273Val)
|
|
|
NM_000521.4(HEXB):c.81G>A (p.Leu27=)
|
|
|
NM_000521.4(HEXB):c.822G>C (p.Val274=)
|
|
|
NM_000521.4(HEXB):c.824T>C (p.Ile275Thr)
|
|
|
NM_000521.4(HEXB):c.828A>G (p.Glu276=)
|
|
|
NM_000521.4(HEXB):c.838T>C (p.Leu280=)
|
rs1057518432
|
|
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs)
|
|
|
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter)
|
rs1579950499
|
|
NM_000521.4(HEXB):c.843A>G (p.Arg281=)
|
rs2112171867
|
|
NM_000521.4(HEXB):c.844G>C (p.Gly282Arg)
|
|
|
NM_000521.4(HEXB):c.855C>T (p.Val285=)
|
rs781190762
|
|
NM_000521.4(HEXB):c.858G>A (p.Leu286=)
|
rs2112171900
|
|
NM_000521.4(HEXB):c.858G>T (p.Leu286=)
|
|
|
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu)
|
|
|
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile)
|
rs2112171931
|
|
NM_000521.4(HEXB):c.875dup (p.Gly293fs)
|
|
|
NM_000521.4(HEXB):c.876del (p.His294fs)
|
rs1749604779
|
|
NM_000521.4(HEXB):c.879G>C (p.Gly293=)
|
rs1208134816
|
|
NM_000521.4(HEXB):c.881A>G (p.His294Arg)
|
rs1749605069
|
|
NM_000521.4(HEXB):c.888A>C (p.Leu296=)
|
|
|
NM_000521.4(HEXB):c.892del (p.Trp298fs)
|
|
|
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter)
|
|
|
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter)
|
|
|
NM_000521.4(HEXB):c.901+11G>T
|
|
|
NM_000521.4(HEXB):c.901+7A>C
|
|
|
NM_000521.4(HEXB):c.901+8G>C
|
|
|
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg)
|
rs2112172036
|
|
NM_000521.4(HEXB):c.902-15A>C
|
|
|
NM_000521.4(HEXB):c.90G>A (p.Leu30=)
|
|
|
NM_000521.4(HEXB):c.916_917del (p.Leu306fs)
|
rs2112174996
|
|
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala)
|
|
|
NM_000521.4(HEXB):c.924A>C (p.Pro308=)
|
|
|
NM_000521.4(HEXB):c.924A>G (p.Pro308=)
|
rs2112175034
|
|
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
|
|
|
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr)
|
rs1554036641
|
|
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)
|
|
|
NM_000521.4(HEXB):c.93T>C (p.Thr31=)
|
rs1748835619
|
|
NM_000521.4(HEXB):c.946T>C (p.Leu316=)
|
|
|
NM_000521.4(HEXB):c.948G>A (p.Leu316=)
|
rs1749649162
|
|
NM_000521.4(HEXB):c.96G>C (p.Gln32His)
|
|
|
NM_000521.4(HEXB):c.972T>C (p.Pro324=)
|
rs1749650159
|
|
NM_000521.4(HEXB):c.973_1010del (p.Thr325fs)
|
|
|
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile)
|
rs1561226697
|
|
NM_000521.4(HEXB):c.987A>G (p.Thr329=)
|
|
|
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs)
|
rs2112175171
|
|
NM_000521.4(HEXB):c.993C>T (p.Ser331=)
|
rs2112175174
|
|
NM_000521.4(HEXB):c.9G>T (p.Leu3=)
|
|
|
NM_001292004.2(HEXB):c.-376-4189C>T
|
|
|