NM_000405.5(GM2A):c.*724G>C
|
rs112641014
|
0.19839
|
NM_000520.5(HEXA):c.-167G>A
|
rs77707876
|
0.01456
|
NM_000520.6(HEXA):c.*575G>A
|
rs76075374
|
0.01411
|
NM_000405.5(GM2A):c.*356C>A
|
rs189626755
|
0.00491
|
NM_000520.5(HEXA):c.-59G>A
|
rs147174351
|
0.00489
|
NM_000520.6(HEXA):c.673-13T>C
|
rs75211071
|
0.00438
|
NM_000405.5(GM2A):c.*2519G>A
|
rs138240164
|
0.00292
|
NM_000520.6(HEXA):c.*76G>A
|
rs558918292
|
0.00277
|
NM_000520.6(HEXA):c.346+13C>T
|
rs200871198
|
0.00173
|
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.*410C>T
|
rs181890739
|
0.00090
|
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_000520.5(HEXA):c.-136G>A
|
rs561320483
|
0.00054
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_000405.5(GM2A):c.*704T>A
|
rs569818818
|
0.00049
|
NM_000520.6(HEXA):c.*436C>T
|
rs112626309
|
0.00042
|
NM_000405.5(GM2A):c.*286C>T
|
rs766120281
|
0.00039
|
NM_000521.4(HEXB):c.1248G>A (p.Ala416=)
|
rs137915238
|
0.00035
|
NM_000405.5(GM2A):c.*426C>T
|
rs370699960
|
0.00032
|
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_000405.5(GM2A):c.*1241T>C
|
rs541818620
|
0.00030
|
NM_000520.6(HEXA):c.*355C>G
|
rs188399769
|
0.00029
|
NM_000520.6(HEXA):c.1073+41C>T
|
rs367719010
|
0.00027
|
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.*860C>T
|
rs368971605
|
0.00022
|
NM_000405.5(GM2A):c.*241C>T
|
rs377505668
|
0.00021
|
NM_000405.5(GM2A):c.254T>G (p.Val85Gly)
|
rs143999954
|
0.00021
|
NM_000520.6(HEXA):c.1216C>T (p.Leu406=)
|
rs140482769
|
0.00019
|
NM_000520.6(HEXA):c.1421+14G>C
|
rs201497629
|
0.00019
|
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)
|
rs148511084
|
0.00018
|
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.1612G>A (p.Glu538Lys)
|
rs143635580
|
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.1178G>A (p.Arg393Gln)
|
rs370266293
|
0.00012
|
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser)
|
rs369117208
|
0.00012
|
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro)
|
rs146938346
|
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_000520.6(HEXA):c.581C>T (p.Ala194Val)
|
rs778947516
|
0.00010
|
NM_000405.5(GM2A):c.*1899G>C
|
rs886060274
|
0.00009
|
NM_000520.5(HEXA):c.-141G>A
|
rs886051462
|
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_000521.3(HEXB):c.-52C>A
|
rs886060748
|
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_000405.5(GM2A):c.*984A>G
|
rs866309305
|
0.00007
|
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_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.1421+4A>G
|
rs953579005
|
0.00005
|
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu)
|
rs371133961
|
0.00005
|
NM_000521.4(HEXB):c.1035A>C (p.Pro345=)
|
rs202227927
|
0.00005
|
NM_000521.4(HEXB):c.1572C>T (p.Asp524=)
|
rs770560389
|
0.00005
|
NM_000405.5(GM2A):c.*1246A>G
|
rs760209124
|
0.00004
|
NM_000405.5(GM2A):c.*1673A>G
|
rs920253935
|
0.00004
|
NM_000405.5(GM2A):c.*2363C>T
|
rs566427956
|
0.00004
|
NM_000405.5(GM2A):c.*394G>A
|
rs574467377
|
0.00004
|
NM_000405.5(GM2A):c.*91C>A
|
rs774301017
|
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.706G>A (p.Ala236Thr)
|
rs757119445
|
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.672T>C (p.Asp224=)
|
rs761223179
|
0.00004
|
NM_000405.5(GM2A):c.*1410A>C
|
rs181014044
|
0.00003
|
NM_000405.5(GM2A):c.*2479C>T
|
rs886060276
|
0.00003
|
NM_000405.5(GM2A):c.388C>T (p.Arg130Cys)
|
rs761084552
|
0.00003
|
NM_000520.5(HEXA):c.-181T>C
|
rs886051463
|
0.00003
|
NM_000520.6(HEXA):c.1073+4A>G
|
rs780502991
|
0.00003
|
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys)
|
rs1227959449
|
0.00003
|
NM_000521.3(HEXB):c.-62G>A
|
rs1045177384
|
0.00003
|
NM_000521.4(HEXB):c.-14G>A
|
rs886060749
|
0.00003
|
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly)
|
rs794727049
|
0.00003
|
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)
|
rs761725498
|
0.00003
|
NM_000405.5(GM2A):c.*1708A>G
|
rs1469616524
|
0.00002
|
NM_000405.5(GM2A):c.*1927C>G
|
rs1413471325
|
0.00002
|
NM_000405.5(GM2A):c.*274A>G
|
rs886060270
|
0.00002
|
NM_000405.5(GM2A):c.496G>A (p.Gly166Arg)
|
rs764022955
|
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.1421G>T (p.Trp474Leu)
|
rs762374961
|
0.00002
|
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp)
|
rs573269641
|
0.00002
|
NM_000520.6(HEXA):c.497G>A (p.Arg166His)
|
rs398123442
|
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.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.1417+5G>A
|
rs763517499
|
0.00002
|
NM_000521.4(HEXB):c.1614-16_1615dup
|
rs1554037309
|
0.00002
|
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys)
|
rs762209256
|
0.00002
|
NM_000405.5(GM2A):c.*1068A>G
|
rs576574973
|
0.00001
|
NM_000405.5(GM2A):c.*1362G>C
|
rs886060273
|
0.00001
|
NM_000405.5(GM2A):c.*188A>T
|
rs886060269
|
0.00001
|
NM_000405.5(GM2A):c.*2113G>A
|
rs886060275
|
0.00001
|
NM_000405.5(GM2A):c.*2619C>T
|
rs772153529
|
0.00001
|
NM_000405.5(GM2A):c.*2695G>A
|
rs770518416
|
0.00001
|
NM_000405.5(GM2A):c.*868T>C
|
rs886060272
|
0.00001
|
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_000520.5(HEXA):c.-207A>G
|
rs886051464
|
0.00001
|
NM_000520.6(HEXA):c.*12C>T
|
rs532797279
|
0.00001
|
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser)
|
rs775322979
|
0.00001
|
NM_000520.6(HEXA):c.1091C>T (p.Ser364Phe)
|
rs781611898
|
0.00001
|
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)
|
rs759157781
|
0.00001
|
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg)
|
rs764291005
|
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.1275A>G (p.Ile425Met)
|
rs749368995
|
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.1351C>G (p.Leu451Val)
|
rs28940871
|
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.140A>G (p.Gln47Arg)
|
rs1015834087
|
0.00001
|
NM_000520.6(HEXA):c.1438G>A (p.Val480Ile)
|
rs370638338
|
0.00001
|
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu)
|
rs1185080097
|
0.00001
|
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln)
|
rs745432499
|
0.00001
|
NM_000520.6(HEXA):c.167C>T (p.Pro56Leu)
|
rs955535343
|
0.00001
|
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg)
|
rs753442808
|
0.00001
|
NM_000520.6(HEXA):c.241C>A (p.Pro81Thr)
|
rs144231599
|
0.00001
|
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln)
|
rs766966378
|
0.00001
|
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys)
|
rs756740656
|
0.00001
|
NM_000520.6(HEXA):c.275A>G (p.Lys92Arg)
|
rs1208872523
|
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+2dup
|
rs1430416918
|
0.00001
|
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe)
|
rs1282031681
|
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.410G>A (p.Arg137Gln)
|
rs769724246
|
0.00001
|
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile)
|
rs1273494297
|
0.00001
|
NM_000520.6(HEXA):c.503C>T (p.Pro168Leu)
|
rs1459050143
|
0.00001
|
NM_000520.6(HEXA):c.535C>T (p.His179Tyr)
|
rs781493030
|
0.00001
|
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp)
|
rs1166889033
|
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.598G>A (p.Val200Met)
|
rs1800429
|
0.00001
|
NM_000520.6(HEXA):c.664A>C (p.Met222Leu)
|
rs768751360
|
0.00001
|
NM_000520.6(HEXA):c.740G>A (p.Arg247Gln)
|
rs1360213217
|
0.00001
|
NM_000520.6(HEXA):c.749G>T (p.Gly250Val)
|
rs121907959
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.7A>G (p.Ser3Gly)
|
rs1277583383
|
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.961G>A (p.Gly321Arg)
|
rs556877212
|
0.00001
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
NM_000521.4(HEXB):c.*105T>C
|
rs777009900
|
0.00001
|
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val)
|
rs373731814
|
0.00001
|
NM_000521.4(HEXB):c.1332C>G (p.Ile444Met)
|
rs762367349
|
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.14G>A (p.Gly5Glu)
|
rs1400667054
|
0.00001
|
NM_000521.4(HEXB):c.156G>A (p.Pro52=)
|
rs758965664
|
0.00001
|
NM_000521.4(HEXB):c.1614-16_1622dup
|
rs756912360
|
0.00001
|
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys)
|
rs749646826
|
0.00001
|
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val)
|
rs767663018
|
0.00001
|
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser)
|
rs763927371
|
0.00001
|
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg)
|
rs1193552297
|
0.00001
|
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla)
|
rs768218036
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln)
|
rs759538325
|
0.00001
|
NM_000521.4(HEXB):c.512-3C>A
|
rs1376742145
|
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.786G>T (p.Leu262Phe)
|
rs867255937
|
0.00001
|
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln)
|
rs751678693
|
0.00001
|
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala)
|
rs1255790136
|
0.00001
|
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter)
|
rs1407085233
|
0.00001
|
NC_000005.9:g.(?_150632778)_(150646494_?)dup
|
|
|
NC_000005.9:g.(?_150632778)_(150727021_?)dup
|
|
|
NC_000005.9:g.(?_73980960)_(75008762_?)dup
|
|
|
NC_000015.9:g.(?_72636418)_(73660611_?)dup
|
|
|
NC_000015.9:g.(?_72640007)_(72643595_?)dup
|
|
|
NC_000015.9:g.(?_72666113)_(72666961_?)del
|
|
|
NM_000405.4(GM2A):c.-104T>C
|
rs1753617546
|
|
NM_000405.4(GM2A):c.-83C>G
|
rs1753618021
|
|
NM_000405.5(GM2A):c.*133C>T
|
rs1753917282
|
|
NM_000405.5(GM2A):c.*2009A>G
|
rs1753965351
|
|
NM_000405.5(GM2A):c.*2206C>T
|
rs1753968753
|
|
NM_000405.5(GM2A):c.*2452A>C
|
rs1037658502
|
|
NM_000405.5(GM2A):c.*245G>A
|
rs542291291
|
|
NM_000405.5(GM2A):c.*2529G>A
|
rs747946670
|
|
NM_000405.5(GM2A):c.*2550C>T
|
rs886060277
|
|
NM_000405.5(GM2A):c.*257C>G
|
rs536229935
|
|
NM_000405.5(GM2A):c.*2624C>T
|
rs886060278
|
|
NM_000405.5(GM2A):c.*352C>G
|
rs564679676
|
|
NM_000405.5(GM2A):c.*568G>A
|
rs886060271
|
|
NM_000405.5(GM2A):c.*722_*723dup
|
rs35982513
|
|
NM_000405.5(GM2A):c.*862C>G
|
rs781320720
|
|
NM_000405.5(GM2A):c.*903C>T
|
rs1753937645
|
|
NM_000405.5(GM2A):c.-7C>G
|
rs371628812
|
|
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.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.276_277delinsTT (p.Leu93Phe)
|
rs1753894633
|
|
NM_000405.5(GM2A):c.278_279delinsGT (p.Leu93Arg)
|
rs2127240636
|
|
NM_000405.5(GM2A):c.308T>C (p.Ile103Thr)
|
rs1443880021
|
|
NM_000405.5(GM2A):c.379G>A (p.Glu127Lys)
|
rs1561620130
|
|
NM_000405.5(GM2A):c.37C>T (p.Leu13=)
|
rs1753622145
|
|
NM_000405.5(GM2A):c.395A>T (p.Tyr132Phe)
|
|
|
NM_000405.5(GM2A):c.427-13G>A
|
rs1753905990
|
|
NM_000405.5(GM2A):c.428G>A (p.Gly143Glu)
|
|
|
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.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>A (p.Arg180His)
|
rs368576623
|
|
NM_000405.5(GM2A):c.539G>C (p.Arg180Pro)
|
|
|
NM_000405.5(GM2A):c.559G>A (p.Ala187Thr)
|
|
|
NM_000405.5(GM2A):c.574G>A (p.Gly192Ser)
|
|
|
NM_000405.5(GM2A):c.579A>G (p.Ile193Met)
|
|
|
NM_000405.5(GM2A):c.5A>G (p.Gln2Arg)
|
|
|
NM_000405.5(GM2A):c.81+4A>G
|
|
|
NM_000405.5(GM2A):c.85T>C (p.Ser29Pro)
|
rs1582070376
|
|
NM_000405.5(GM2A):c.98G>A (p.Ser33Asn)
|
|
|
NM_000520.6(HEXA):c.*200T>C
|
rs886051461
|
|
NM_000520.6(HEXA):c.-1dup (p.Met1fs)
|
rs1555475553
|
|
NM_000520.6(HEXA):c.-7_1del (p.Met1fs)
|
rs759154405
|
|
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe)
|
rs1555472604
|
|
NM_000520.6(HEXA):c.1008G>C (p.Gln336His)
|
rs1555472602
|
|
NM_000520.6(HEXA):c.1009G>A (p.Asp337Asn)
|
|
|
NM_000520.6(HEXA):c.100G>A (p.Asp34Asn)
|
|
|
NM_000520.6(HEXA):c.1019G>A (p.Arg340Lys)
|
|
|
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly)
|
rs1555475512
|
|
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg)
|
rs1417593132
|
|
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val)
|
rs191330716
|
|
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr)
|
rs745555933
|
|
NM_000520.6(HEXA):c.1042T>G (p.Phe348Val)
|
|
|
NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)
|
|
|
NM_000520.6(HEXA):c.1058C>T (p.Ser353Phe)
|
rs2140322145
|
|
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys)
|
rs2089059184
|
|
NM_000520.6(HEXA):c.1073+10G>T
|
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.1074G>C (p.Thr358=)
|
rs1330754060
|
|
NM_000520.6(HEXA):c.107G>C (p.Arg36Pro)
|
|
|
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.1091C>G (p.Ser364Cys)
|
|
|
NM_000520.6(HEXA):c.1091CTT[1] (p.Ser365del)
|
|
|
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.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.1114G>A (p.Val372Met)
|
rs759434633
|
|
NM_000520.6(HEXA):c.1114G>T (p.Val372Leu)
|
|
|
NM_000520.6(HEXA):c.1121A>G (p.Gln374Arg)
|
|
|
NM_000520.6(HEXA):c.1135A>G (p.Asn379Asp)
|
|
|
NM_000520.6(HEXA):c.1136A>G (p.Asn379Ser)
|
|
|
NM_000520.6(HEXA):c.1142T>A (p.Val381Glu)
|
|
|
NM_000520.6(HEXA):c.1145A>C (p.Lys382Thr)
|
rs960869164
|
|
NM_000520.6(HEXA):c.1146+18A>G
|
rs1555472543
|
|
NM_000520.6(HEXA):c.1147-3C>T
|
|
|
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.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.1189C>A (p.Pro397Thr)
|
|
|
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser)
|
rs778878211
|
|
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.1214_1219del (p.403_404EL[1])
|
rs1555472429
|
|
NM_000520.6(HEXA):c.121C>T (p.Pro41Ser)
|
|
|
NM_000520.6(HEXA):c.1226A>G (p.Lys409Arg)
|
|
|
NM_000520.6(HEXA):c.1238G>A (p.Arg413Gln)
|
|
|
NM_000520.6(HEXA):c.1238G>C (p.Arg413Pro)
|
rs766988109
|
|
NM_000520.6(HEXA):c.1250C>G (p.Ser417Cys)
|
|
|
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.1270C>T (p.Arg424Cys)
|
|
|
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.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.1288G>A (p.Asp430Asn)
|
|
|
NM_000520.6(HEXA):c.1306A>T (p.Ile436Leu)
|
rs1800431
|
|
NM_000520.6(HEXA):c.1315C>A (p.Pro439Thr)
|
rs2140320594
|
|
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.1329A>C (p.Glu443Asp)
|
|
|
NM_000520.6(HEXA):c.1330+4A>T
|
|
|
NM_000520.6(HEXA):c.1331G>A (p.Gly444Asp)
|
|
|
NM_000520.6(HEXA):c.1333A>G (p.Thr445Ala)
|
|
|
NM_000520.6(HEXA):c.1336C>T (p.Pro446Ser)
|
|
|
NM_000520.6(HEXA):c.1337C>T (p.Pro446Leu)
|
|
|
NM_000520.6(HEXA):c.1339G>A (p.Glu447Lys)
|
|
|
NM_000520.6(HEXA):c.1346A>G (p.Lys449Arg)
|
|
|
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp)
|
rs1229811721
|
|
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>C (p.Glu456Asp)
|
rs2140320322
|
|
NM_000520.6(HEXA):c.136T>C (p.Phe46Leu)
|
rs1287127671
|
|
NM_000520.6(HEXA):c.1377G>A (p.Met459Ile)
|
|
|
NM_000520.6(HEXA):c.1399A>G (p.Thr467Ala)
|
|
|
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)
|
|
|
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile)
|
rs746828145
|
|
NM_000520.6(HEXA):c.1412C>G (p.Pro471Arg)
|
|
|
NM_000520.6(HEXA):c.141G>C (p.Gln47His)
|
|
|
NM_000520.6(HEXA):c.1421+15G>C
|
rs185764548
|
|
NM_000520.6(HEXA):c.1421+3A>T
|
|
|
NM_000520.6(HEXA):c.1421+6G>C
|
|
|
NM_000520.6(HEXA):c.1421+7del
|
rs747378954
|
|
NM_000520.6(HEXA):c.1424C>G (p.Pro475Arg)
|
rs758829206
|
|
NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)
|
|
|
NM_000520.6(HEXA):c.1439T>C (p.Val480Ala)
|
|
|
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)
|
rs121907968
|
|
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.1474G>C (p.Asp492His)
|
|
|
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.1509C>G (p.Phe503Leu)
|
|
|
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu)
|
rs121907955
|
|
NM_000520.6(HEXA):c.152G>C (p.Ser51Thr)
|
rs2089058076
|
|
NM_000520.6(HEXA):c.1532G>T (p.Gly511Val)
|
|
|
NM_000520.6(HEXA):c.1556T>A (p.Val519Glu)
|
rs2088580697
|
|
NM_000520.6(HEXA):c.1556T>C (p.Val519Ala)
|
|
|
NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro)
|
rs1432462387
|
|
NM_000520.6(HEXA):c.1571del (p.Gln524fs)
|
rs1555472158
|
|
NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly)
|
|
|
NM_000520.6(HEXA):c.1578del (p.Phe526fs)
|
rs1555472157
|
|
NM_000520.6(HEXA):c.157G>A (p.Ala53Thr)
|
|
|
NM_000520.6(HEXA):c.157G>T (p.Ala53Ser)
|
rs2140344593
|
|
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.190G>A (p.Ala64Thr)
|
|
|
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.211C>G (p.Leu71Val)
|
rs775000497
|
|
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn)
|
rs1555475468
|
|
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala)
|
rs2089055615
|
|
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.238C>A (p.Arg80Ser)
|
rs1240272655
|
|
NM_000520.6(HEXA):c.248T>C (p.Leu83Pro)
|
rs1477850542
|
|
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.254G>A (p.Gly85Glu)
|
|
|
NM_000520.6(HEXA):c.260G>T (p.Arg87Leu)
|
|
|
NM_000520.6(HEXA):c.277A>G (p.Asn93Asp)
|
rs2140329070
|
|
NM_000520.6(HEXA):c.285G>C (p.Leu95Phe)
|
|
|
NM_000520.6(HEXA):c.293C>G (p.Ser98Cys)
|
|
|
NM_000520.6(HEXA):c.298G>T (p.Val100Phe)
|
rs794727250
|
|
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser)
|
rs1217876329
|
|
NM_000520.6(HEXA):c.307G>A (p.Gly103Arg)
|
|
|
NM_000520.6(HEXA):c.308G>A (p.Gly103Glu)
|
|
|
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.346+5G>A
|
rs1414011185
|
|
NM_000520.6(HEXA):c.34C>G (p.Leu12Val)
|
|
|
NM_000520.6(HEXA):c.350C>A (p.Thr117Asn)
|
|
|
NM_000520.6(HEXA):c.358A>G (p.Ile120Val)
|
rs1567300305
|
|
NM_000520.6(HEXA):c.364G>C (p.Asp122His)
|
|
|
NM_000520.6(HEXA):c.367G>A (p.Asp123Asn)
|
|
|
NM_000520.6(HEXA):c.367G>T (p.Asp123Tyr)
|
rs768750119
|
|
NM_000520.6(HEXA):c.37G>A (p.Ala13Thr)
|
|
|
NM_000520.6(HEXA):c.386C>G (p.Ser129Cys)
|
|
|
NM_000520.6(HEXA):c.395T>G (p.Val132Gly)
|
|
|
NM_000520.6(HEXA):c.412+5C>A
|
rs2088765141
|
|
NM_000520.6(HEXA):c.417_418delinsTC (p.Glu140Gln)
|
|
|
NM_000520.6(HEXA):c.442A>G (p.Lys148Glu)
|
rs2140326779
|
|
NM_000520.6(HEXA):c.446CTG[1] (p.Ala150del)
|
rs1555473140
|
|
NM_000520.6(HEXA):c.44C>T (p.Ala15Val)
|
|
|
NM_000520.6(HEXA):c.460-17A>G
|
|
|
NM_000520.6(HEXA):c.460-19C>T
|
rs1680245631
|
|
NM_000520.6(HEXA):c.462C>A (p.Phe154Leu)
|
rs1272644968
|
|
NM_000520.6(HEXA):c.469A>G (p.Asn157Asp)
|
|
|
NM_000520.6(HEXA):c.472A>G (p.Lys158Glu)
|
|
|
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys)
|
rs2088724627
|
|
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)
|
|
|
NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)
|
|
|
NM_000520.6(HEXA):c.4A>G (p.Thr2Ala)
|
|
|
NM_000520.6(HEXA):c.505C>G (p.His169Asp)
|
|
|
NM_000520.6(HEXA):c.50C>T (p.Ala17Val)
|
|
|
NM_000520.6(HEXA):c.512G>A (p.Gly171Asp)
|
rs2088723709
|
|
NM_000520.6(HEXA):c.524A>G (p.Asp175Gly)
|
|
|
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys)
|
rs1064794856
|
|
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro)
|
rs2088722634
|
|
NM_000520.6(HEXA):c.545C>G (p.Pro182Arg)
|
|
|
NM_000520.6(HEXA):c.566C>G (p.Thr189Ser)
|
|
|
NM_000520.6(HEXA):c.568C>T (p.Leu190=)
|
|
|
NM_000520.6(HEXA):c.570+10C>T
|
|
|
NM_000520.6(HEXA):c.570+3A>C
|
|
|
NM_000520.6(HEXA):c.572A>G (p.Asp191Gly)
|
rs2140324755
|
|
NM_000520.6(HEXA):c.577A>G (p.Met193Val)
|
rs748427632
|
|
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.607T>G (p.Trp203Gly)
|
rs1002712424
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.617T>C (p.Val206Ala)
|
rs2140324697
|
|
NM_000520.6(HEXA):c.629C>A (p.Ser210Tyr)
|
|
|
NM_000520.6(HEXA):c.62C>T (p.Thr21Met)
|
|
|
NM_000520.6(HEXA):c.642G>C (p.Glu214Asp)
|
|
|
NM_000520.6(HEXA):c.658G>C (p.Glu220Gln)
|
|
|
NM_000520.6(HEXA):c.65C>T (p.Ala22Val)
|
|
|
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.672+3A>T
|
|
|
NM_000520.6(HEXA):c.672G>A (p.Lys224=)
|
|
|
NM_000520.6(HEXA):c.680A>G (p.Tyr227Cys)
|
|
|
NM_000520.6(HEXA):c.699C>G (p.Ile233Met)
|
rs2140324240
|
|
NM_000520.6(HEXA):c.701A>G (p.Tyr234Cys)
|
|
|
NM_000520.6(HEXA):c.70T>A (p.Trp24Arg)
|
rs2140344766
|
|
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.746G>A (p.Arg249Gln)
|
rs1297800753
|
|
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser)
|
rs1057521137
|
|
NM_000520.6(HEXA):c.757G>T (p.Val253Leu)
|
|
|
NM_000520.6(HEXA):c.764C>T (p.Ala255Val)
|
|
|
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.789T>C (p.Thr263=)
|
rs2088680576
|
|
NM_000520.6(HEXA):c.80C>T (p.Pro27Leu)
|
|
|
NM_000520.6(HEXA):c.818T>C (p.Leu273Ser)
|
rs2088664026
|
|
NM_000520.6(HEXA):c.823A>G (p.Thr275Ala)
|
|
|
NM_000520.6(HEXA):c.826C>G (p.Pro276Ala)
|
|
|
NM_000520.6(HEXA):c.833A>G (p.Tyr278Cys)
|
rs772036483
|
|
NM_000520.6(HEXA):c.848C>T (p.Pro283Leu)
|
|
|
NM_000520.6(HEXA):c.857C>T (p.Thr286Ile)
|
|
|
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)
|
|
|
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.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.913T>C (p.Phe305Leu)
|
|
|
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.931_942del (p.Val311_Asp314del)
|
|
|
NM_000520.6(HEXA):c.93A>T (p.Gln31His)
|
rs2089059614
|
|
NM_000520.6(HEXA):c.941A>T (p.Asp314Val)
|
rs1555472696
|
|
NM_000520.6(HEXA):c.947A>G (p.Tyr316Cys)
|
|
|
NM_000520.6(HEXA):c.986+6A>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.997C>G (p.Pro333Ala)
|
|
|
NM_000520.6(HEXA):c.99C>A (p.Ser33=)
|
rs2140344713
|
|
NM_000521.3(HEXB):c.-63G>A
|
rs1748827834
|
|
NM_000521.4(HEXB):c.*4dup (p.Ter557=)
|
rs771506320
|
|
NM_000521.4(HEXB):c.1048C>G (p.His350Asp)
|
|
|
NM_000521.4(HEXB):c.1049A>T (p.His350Leu)
|
rs2112175313
|
|
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe)
|
|
|
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg)
|
rs1749652995
|
|
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly)
|
rs781244479
|
|
NM_000521.4(HEXB):c.1066G>A (p.Val356Met)
|
|
|
NM_000521.4(HEXB):c.109G>T (p.Val37Leu)
|
|
|
NM_000521.4(HEXB):c.1104A>C (p.Gln368His)
|
|
|
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile)
|
|
|
NM_000521.4(HEXB):c.1169+5G>C
|
|
|
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser)
|
|
|
NM_000521.4(HEXB):c.1242+3G>A
|
|
|
NM_000521.4(HEXB):c.1243-9C>A
|
|
|
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg)
|
|
|
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp)
|
|
|
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val)
|
rs757550590
|
|
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn)
|
|
|
NM_000521.4(HEXB):c.1276G>C (p.Asp426His)
|
|
|
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser)
|
rs797045614
|
|
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)
|
|
|
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg)
|
rs2112180879
|
|
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala)
|
rs1392645389
|
|
NM_000521.4(HEXB):c.1382G>A (p.Arg461Lys)
|
rs2112180932
|
|
NM_000521.4(HEXB):c.1416C>T (p.Gly472=)
|
|
|
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1])
|
rs750595127
|
|
NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala)
|
rs760333736
|
|
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg)
|
|
|
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)
|
|
|
NM_000521.4(HEXB):c.1474T>A (p.Tyr492Asn)
|
|
|
NM_000521.4(HEXB):c.1489A>C (p.Asn497His)
|
|
|
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe)
|
|
|
NM_000521.4(HEXB):c.1508+6G>C
|
|
|
NM_000521.4(HEXB):c.150C>T (p.Ala50=)
|
rs779421706
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.1542G>C (p.Trp514Cys)
|
rs1417317737
|
|
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)
|
|
|
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile)
|
rs760366178
|
|
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)
|
|
|
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr)
|
rs778119481
|
|
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)
|
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000521.4(HEXB):c.1614-25_1614-7dup
|
rs1554037306
|
|
NM_000521.4(HEXB):c.1614-6_1628dup
|
rs2112188881
|
|
NM_000521.4(HEXB):c.1614-8_1614-6dup
|
rs1271274603
|
|
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del)
|
rs1554037322
|
|
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys)
|
rs766477016
|
|
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro)
|
rs1749847397
|
|
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)
|
rs727503961
|
|
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro)
|
rs774155487
|
|
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)
|
|
|
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg)
|
|
|
NM_000521.4(HEXB):c.230_232del (p.Phe77del)
|
rs1554034490
|
|
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr)
|
|
|
NM_000521.4(HEXB):c.250A>C (p.Asn84His)
|
|
|
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys)
|
|
|
NM_000521.4(HEXB):c.272G>C (p.Cys91Ser)
|
rs1057518709
|
|
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr)
|
|
|
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.32C>T (p.Pro11Leu)
|
|
|
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys)
|
|
|
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del)
|
rs760427424
|
|
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser)
|
rs1748945643
|
|
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser)
|
|
|
NM_000521.4(HEXB):c.42G>A (p.Leu14=)
|
rs1580377030
|
|
NM_000521.4(HEXB):c.444T>G (p.Ser148=)
|
|
|
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser)
|
|
|
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala)
|
rs951616685
|
|
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln)
|
|
|
NM_000521.4(HEXB):c.512G>T (p.Gly171Val)
|
|
|
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys)
|
|
|
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro)
|
rs1177358563
|
|
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile)
|
rs1352027066
|
|
NM_000521.4(HEXB):c.565A>G (p.Ile189Val)
|
|
|
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser)
|
|
|
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del)
|
rs1554034424
|
|
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del)
|
rs887796660
|
|
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)
|
|
|
NM_000521.4(HEXB):c.646G>A (p.Val216Ile)
|
|
|
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del)
|
rs1749130533
|
|
NM_000521.4(HEXB):c.669G>A (p.Leu223=)
|
rs773385077
|
|
NM_000521.4(HEXB):c.670-14_670-13del
|
rs886060751
|
|
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp)
|
|
|
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del)
|
rs1554034426
|
|
NM_000521.4(HEXB):c.710A>G (p.His237Arg)
|
|
|
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del)
|
rs745791892
|
|
NM_000521.4(HEXB):c.766A>C (p.Asn256His)
|
rs2112156485
|
|
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr)
|
|
|
NM_000521.4(HEXB):c.771+5G>C
|
rs727503959
|
|
NM_000521.4(HEXB):c.771+985G>A
|
|
|
NM_000521.4(HEXB):c.78G>A (p.Met26Ile)
|
rs886060750
|
|
NM_000521.4(HEXB):c.790C>T (p.His264Tyr)
|
|
|
NM_000521.4(HEXB):c.811G>A (p.Val271Ile)
|
|
|
NM_000521.4(HEXB):c.817A>G (p.Met273Val)
|
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NM_000521.4(HEXB):c.824T>C (p.Ile275Thr)
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NM_000521.4(HEXB):c.833C>T (p.Ala278Val)
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rs886044118
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NM_000521.4(HEXB):c.844G>C (p.Gly282Arg)
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NM_000521.4(HEXB):c.867T>A (p.Phe289Leu)
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NM_000521.4(HEXB):c.880C>T (p.His294Tyr)
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rs2112171970
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NM_000521.4(HEXB):c.881A>G (p.His294Arg)
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rs1749605069
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NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del)
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rs1554034432
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NM_000521.4(HEXB):c.901G>C (p.Gly301Arg)
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rs2112172036
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NM_000521.4(HEXB):c.922C>G (p.Pro308Ala)
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NM_000521.4(HEXB):c.965T>C (p.Ile322Thr)
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rs1749649940
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NM_000521.4(HEXB):c.969C>A (p.Asn323Lys)
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NM_000521.4(HEXB):c.96G>C (p.Gln32His)
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NM_000521.4(HEXB):c.986C>T (p.Thr329Ile)
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rs1561226697
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NM_001292004.2(HEXB):c.-376-4189C>T
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NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter)
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rs35080306
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NM_032380.5(GFM2):c.2239dup (p.Thr747fs)
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rs1554037537
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