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.460-1G>T
|
rs764343937
|
0.00005
|
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter)
|
rs121907962
|
0.00004
|
NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln)
|
rs146357218
|
0.00004
|
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys)
|
rs121907958
|
0.00003
|
NM_013964.5(NRG1):c.332T>C (p.Met111Thr)
|
rs777137810
|
0.00003
|
NM_000520.6(HEXA):c.1421+1G>C
|
rs147324677
|
0.00002
|
NM_153033.5(KCTD7):c.458G>A (p.Arg153His)
|
rs765235486
|
0.00002
|
NM_000215.4(JAK3):c.970G>A (p.Asp324Asn)
|
rs1446786243
|
0.00001
|
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.1444G>A (p.Glu482Lys)
|
rs121907952
|
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_000179.3(MSH6):c.2722G>T (p.Glu908Ter)
|
rs886056144
|
|
NM_000520.4(HEXA):c.-2564_253+5128delinsG
|
|
|
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.540C>G (p.Tyr180Ter)
|
rs121907969
|
|
NM_000520.6(HEXA):c.546dup (p.Leu183fs)
|
rs1595801740
|
|
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.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_004535.3(MYT1):c.2126C>T (p.Ala709Val)
|
rs1983951301
|
|
NM_005628.3(SLC1A5):c.829G>A (p.Ala277Thr)
|
rs765008475
|
|
NM_014265.6(ADAM28):c.1709C>G (p.Ser570Trp)
|
rs201643797
|
|
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg)
|
rs773588375
|
|
NM_015291.4(DNAJC16):c.718C>T (p.Gln240Ter)
|
rs746908478
|
|
NM_018245.3(OGDHL):c.2174A>T (p.Asn725Ile)
|
rs2293239
|
|
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser)
|
rs75309308
|
|
NM_153033.5(KCTD7):c.529C>T (p.Arg177Cys)
|
rs1273966098
|
|
NM_178014.4(TUBB):c.[58-574C>A;58-593_58-575del]
|
|
|