NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000521.4(HEXB):c.1417+5G>A
|
rs763517499
|
0.00002
|
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)
|
rs1352786910
|
0.00002
|
NM_000521.4(HEXB):c.1165dup (p.Gln389fs)
|
rs1749680051
|
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.1287T>G (p.Tyr429Ter)
|
rs1749739842
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
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.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
NM_000521.4(HEXB):c.1614-16_1622dup
|
rs756912360
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu)
|
rs762821794
|
0.00001
|
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter)
|
rs1749130074
|
0.00001
|
NM_000521.4(HEXB):c.778T>C (p.Tyr260His)
|
rs1453919511
|
0.00001
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
NM_000521.4(HEXB):c.965del (p.Ile322fs)
|
rs768438206
|
0.00001
|
NC_000005.9:g.(?_73992508)_(73992941_?)dup
|
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter)
|
rs1749651571
|
|
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter)
|
rs1749652247
|
|
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter)
|
rs1354786875
|
|
NM_000521.4(HEXB):c.1082+2T>C
|
rs989299922
|
|
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)
|
rs1361998528
|
|
NM_000521.4(HEXB):c.1138_1140delinsA (p.Phe380fs)
|
|
|
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.118del (p.Ala40fs)
|
rs1554034447
|
|
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter)
|
|
|
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)
|
|
|
NM_000521.4(HEXB):c.1242+3G>T
|
rs778226392
|
|
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter)
|
rs1749739842
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
NM_000521.4(HEXB):c.133del (p.Ala45fs)
|
rs1554034449
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)
|
rs1554036943
|
|
NM_000521.4(HEXB):c.1418-12_1418del
|
rs1554037076
|
|
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
|
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro)
|
rs121907983
|
|
NM_000521.4(HEXB):c.1520del (p.Ser507fs)
|
rs1554037120
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs)
|
rs1554037129
|
|
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)
|
rs1554037137
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000521.4(HEXB):c.1614-7_1614-1dup
|
rs2112188865
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
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.170G>A (p.Trp57Ter)
|
rs1114167287
|
|
NM_000521.4(HEXB):c.277del (p.Leu93fs)
|
|
|
NM_000521.4(HEXB):c.295_296delinsT (p.Arg99fs)
|
|
|
NM_000521.4(HEXB):c.295_297delinsT (p.Arg99fs)
|
|
|
NM_000521.4(HEXB):c.298del (p.Arg100fs)
|
rs886039499
|
|
NM_000521.4(HEXB):c.299+1G>A
|
rs1554034505
|
|
NM_000521.4(HEXB):c.300-1G>A
|
rs967720287
|
|
NM_000521.4(HEXB):c.300-1G>C
|
rs967720287
|
|
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)
|
rs1748943719
|
|
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
|
|
|
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
|
|
|
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter)
|
rs1319123888
|
|
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)
|
rs2112135868
|
|
NM_000521.4(HEXB):c.512-1G>T
|
rs1554035308
|
|
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)
|
rs1749120310
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
NM_000521.4(HEXB):c.558+1G>C
|
rs1198764997
|
|
NM_000521.4(HEXB):c.559-1G>A
|
|
|
NM_000521.4(HEXB):c.559-1G>T
|
rs1311903314
|
|
NM_000521.4(HEXB):c.56del (p.Leu19fs)
|
rs1554034423
|
|
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter)
|
|
|
NM_000521.4(HEXB):c.626del (p.Thr209fs)
|
|
|
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro)
|
rs1749130818
|
|
NM_000521.4(HEXB):c.703C>T (p.His235Tyr)
|
rs1554035822
|
|
NM_000521.4(HEXB):c.705C>G (p.His235Gln)
|
rs2112156345
|
|
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
|
|
|
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter)
|
rs1749359626
|
|
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)
|
rs771103635
|
|
NM_000521.4(HEXB):c.772-2A>C
|
|
|
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter)
|
|
|
NM_000521.4(HEXB):c.806del (p.Asn269fs)
|
rs2112171738
|
|
NM_000521.4(HEXB):c.825del (p.Ile275fs)
|
rs1554036523
|
|
NM_000521.4(HEXB):c.860del (p.Pro287fs)
|
|
|
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile)
|
rs2112171931
|
|
NM_000521.4(HEXB):c.902-1G>T
|
rs1554036638
|
|
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
|
|
|
NM_000521.4(HEXB):c.971dup (p.Thr325fs)
|
|
|