NM_000520.6(HEXA):c.672+30T>G
|
rs117160567
|
0.01494
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
|
rs121907953
|
0.00002
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)
|
rs786204585
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
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.805+1G>C
|
rs121907980
|
0.00001
|
NC_000015.10:g.72647900_72648958del
|
|
|
NM_000520.6(HEXA):c.110dup (p.Tyr37Ter)
|
|
|
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro)
|
rs1057519464
|
|
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro)
|
rs370266293
|
|
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)
|
rs762374961
|
|
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg)
|
rs1057519467
|
|
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter)
|
rs1057519468
|
|
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)
|
rs773446161
|
|
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)
|
rs748190164
|
|
NM_000520.6(HEXA):c.426del (p.Phe142fs)
|
rs1057519458
|
|
NM_000520.6(HEXA):c.459+4A>C
|
rs1057519459
|
|
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala)
|
rs1057519460
|
|
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)
|
rs150675340
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
NM_000520.6(HEXA):c.898_905del (p.Phe300fs)
|
rs1057519463
|
|
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn)
|
rs772180415
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|