NM_000521.4(HEXB):c.772-4A>G
|
rs17561000
|
0.06806
|
NM_000521.4(HEXB):c.715G>A (p.Val239Ile)
|
rs145056714
|
0.00051
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_000521.4(HEXB):c.1614-14C>A
|
rs201448394
|
0.00019
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_000521.4(HEXB):c.978G>C (p.Leu326=)
|
rs138261300
|
0.00011
|
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.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.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.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.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.509G>A (p.Arg170Gln)
|
rs759538325
|
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.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)
|
rs121907986
|
0.00001
|
NC_000005.9:g.(?_73980968)_(73992932_74001043)del
|
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.115del (p.Val39fs)
|
rs398123443
|
|
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val)
|
rs757550590
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
NM_000521.4(HEXB):c.1378T>C (p.Trp460Arg)
|
rs2112180926
|
|
NM_000521.4(HEXB):c.1418-12_1418del
|
rs1554037076
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile)
|
rs760366178
|
|
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg)
|
rs745454291
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1613+14del
|
rs754704434
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000521.4(HEXB):c.1613+4A>G
|
|
|
NM_000521.4(HEXB):c.1613+5_1613+10del
|
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
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.178C>A (p.Pro60Thr)
|
rs761575773
|
|
NM_000521.4(HEXB):c.299G>A (p.Arg100Gln)
|
rs1060499701
|
|
NM_000521.4(HEXB):c.445+1G>A
|
rs761197472
|
|
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.703C>T (p.His235Tyr)
|
rs1554035822
|
|
NM_000521.4(HEXB):c.988T>G (p.Tyr330Asp)
|
rs1749650679
|
|