NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)
|
rs201428088
|
0.00029
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)
|
rs267607137
|
0.00003
|
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)
|
rs748436953
|
0.00003
|
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)
|
rs767584322
|
0.00003
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys)
|
rs148617572
|
0.00002
|
NM_001042472.3(ABHD12):c.874C>T (p.Arg292Ter)
|
rs776800006
|
0.00001
|
NM_001165967.2(HES7):c.86A>G (p.Asn29Ser)
|
rs1332109041
|
0.00001
|
NM_001267550.2(TTN):c.56648-1G>A
|
rs769912484
|
0.00001
|
NM_006907.4(PYCR1):c.557A>G (p.Asp186Gly)
|
rs1180294322
|
0.00001
|
NC_000001.11:g.113112478GA[1]
|
rs1570764426
|
|
NM_000359.3(TGM1):c.953C>G (p.Pro318Arg)
|
rs2139024935
|
|
NM_000372.5(TYR):c.[1205G>A;575C>A]
|
|
|
NM_000400.4(ERCC2):c.2092C>T (p.Gln698Ter)
|
rs1555775416
|
|
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs)
|
rs747412555
|
|
NM_001040616.3(LINS1):c.597del (p.Glu200fs)
|
rs1198074890
|
|
NM_001042472.3(ABHD12):c.1124_1129del (p.Ile375_Tyr376del)
|
rs1555810299
|
|
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs)
|
rs1553416039
|
|
NM_001267550.2(TTN):c.56347+1G>A
|
rs1576251664
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs)
|
rs1555264243
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp)
|
rs1573589807
|
|
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)
|
rs760262127
|
|
NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs)
|
rs1599230814
|
|
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter)
|
rs1330406146
|
|
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg)
|
rs1575415900
|
|
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs)
|
rs751637699
|
|
NM_033629.6(TREX1):c.397del (p.Leu133fs)
|
rs78762691
|
|
NM_052989.3(IFT122):c.172T>C (p.Cys58Arg)
|
rs2074912574
|
|
NM_138694.4(PKHD1):c.340C>T (p.Gln114Ter)
|
rs1554227215
|
|
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys)
|
rs913487671
|
|
NM_138694.4(PKHD1):c.5895_5896insAC (p.Leu1966fs)
|
rs1554162725
|
|
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)
|
rs1447189148
|
|