NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
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.1513C>T (p.Arg505Trp)
|
rs751592419
|
0.00002
|
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg)
|
rs398123448
|
0.00002
|
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr)
|
rs779453450
|
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.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
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.1598G>A (p.Arg533His)
|
rs1291555996
|
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.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.965del (p.Ile322fs)
|
rs768438206
|
0.00001
|
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.(?_73978914)_(73981242_?)del
|
|
|
NC_000005.9:g.(?_73980960)_(74041702_?)del
|
|
|
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.(?_74011325)_(74017010_?)del
|
|
|
NM_000521.3(HEXB):c.773del
|
rs1373278959
|
|
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.1082G>A (p.Trp361Ter)
|
rs1361998528
|
|
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter)
|
rs1306678448
|
|
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs)
|
rs1272697701
|
|
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer)
|
rs2112177114
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)
|
|
|
NM_000521.4(HEXB):c.1227dup (p.Asp410Ter)
|
|
|
NM_000521.4(HEXB):c.1264dup (p.Glu422fs)
|
rs2112180571
|
|
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs)
|
rs2112180614
|
|
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs)
|
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs)
|
rs2112180705
|
|
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.1310_1311del (p.Thr437fs)
|
rs761240717
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
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.1404del (p.Asp470fs)
|
rs2112180987
|
|
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)
|
|
|
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.1462_1481dup (p.Ala495fs)
|
|
|
NM_000521.4(HEXB):c.1469del (p.Gly490fs)
|
|
|
NM_000521.4(HEXB):c.1469dup (p.Glu491fs)
|
|
|
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs)
|
rs1749803258
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
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.1563_1573del (p.Met522fs)
|
rs1749812910
|
|
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.1586_1589del (p.Leu529fs)
|
rs2112186316
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)
|
|
|
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr)
|
rs727503961
|
|
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)
|
rs1114167287
|
|
NM_000521.4(HEXB):c.171del (p.Trp57fs)
|
rs771973471
|
|
NM_000521.4(HEXB):c.201del (p.Asn68fs)
|
|
|
NM_000521.4(HEXB):c.283del (p.Glu95fs)
|
rs1748845774
|
|
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter)
|
rs1007338250
|
|
NM_000521.4(HEXB):c.298del (p.Arg100fs)
|
rs886039499
|
|
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.341_342del (p.Glu114fs)
|
|
|
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)
|
|
|
NM_000521.4(HEXB):c.445+1G>A
|
rs761197472
|
|
NM_000521.4(HEXB):c.445+1G>C
|
rs761197472
|
|
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.534_537del (p.Leu178fs)
|
|
|
NM_000521.4(HEXB):c.535_538del (p.Val179fs)
|
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
NM_000521.4(HEXB):c.571_574del (p.Glu191fs)
|
rs1749127843
|
|
NM_000521.4(HEXB):c.64_65del (p.Leu22fs)
|
rs1748834145
|
|
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)
|
|
|
NM_000521.4(HEXB):c.731del (p.Phe244fs)
|
rs2112156393
|
|
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
|
|
|
NM_000521.4(HEXB):c.758del (p.Glu253fs)
|
|
|
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)
|
rs771103635
|
|
NM_000521.4(HEXB):c.76del (p.Met26fs)
|
rs1580377105
|
|
NM_000521.4(HEXB):c.782_785del (p.Ser261fs)
|
rs1312009126
|
|
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs)
|
|
|
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter)
|
rs1579950499
|
|
NM_000521.4(HEXB):c.875dup (p.Gly293fs)
|
|
|
NM_000521.4(HEXB):c.876del (p.His294fs)
|
rs1749604779
|
|
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.916_917del (p.Leu306fs)
|
rs2112174996
|
|
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr)
|
rs1554036641
|
|
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)
|
|
|
NM_000521.4(HEXB):c.973_1010del (p.Thr325fs)
|
|
|
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs)
|
rs2112175171
|
|