NM_000520.6(HEXA):c.739C>T (p.Arg247Trp)
|
rs121907970
|
0.00190
|
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.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)
|
rs121907962
|
0.00004
|
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)
|
rs121907958
|
0.00003
|
NM_000520.6(HEXA):c.1421+1G>C
|
rs147324677
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
|
rs121907953
|
0.00002
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val)
|
rs28940871
|
0.00001
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000520.6(HEXA):c.1A>G (p.Met1Val)
|
rs121907965
|
0.00001
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
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.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
NM_000520.4(HEXA):c.[574G>C;598G>A]
|
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg)
|
rs121907979
|
|
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter)
|
rs267606862
|
|
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser)
|
rs121907978
|
|
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg)
|
rs121907968
|
|
NM_000520.6(HEXA):c.1510del (p.Arg504fs)
|
rs797044433
|
|
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr)
|
rs387906949
|
|
NM_000520.6(HEXA):c.346+1G>A
|
rs797044432
|
|
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg)
|
rs121907975
|
|
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer)
|
rs1057519458
|
|
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
|
|
|
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu)
|
rs28941770
|
|
NM_000520.6(HEXA):c.538T>C (p.Tyr180His)
|
rs28941771
|
|
NM_000520.6(HEXA):c.540C>G (p.Tyr180Ter)
|
rs121907969
|
|
NM_000520.6(HEXA):c.546dup (p.Leu183fs)
|
rs1595801740
|
|
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr)
|
rs121907973
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe)
|
rs121907961
|
|
NM_000520.6(HEXA):c.632T>C (p.Phe211Ser)
|
rs121907974
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp)
|
rs121907959
|
|
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter)
|
rs121907964
|
|
NM_000520.6(HEXA):c.805+1G>A
|
rs121907980
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000520.6(HEXA):c.929_930del (p.Ser310fs)
|
rs751248523
|
|
NM_000520.6(HEXA):c.959GAG[1] (p.Gly321del)
|
rs797044434
|
|
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter)
|
rs121907967
|
|