NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)
|
rs28935498
|
0.00034
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
0.00026
|
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu)
|
rs137853319
|
0.00023
|
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter)
|
rs1269514277
|
0.00005
|
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln)
|
rs137853265
|
0.00001
|
NC_000023.10:g.(?_41387096)_(41396627_?)del
|
|
|
NC_000023.10:g.(?_70337406)_(70363304_?)del
|
|
|
NG_008054.1:g.(35701_?)_(?_50820)del
|
|
|
NM_001367721.1(CASK):c.1424G>T (p.Ser475Ile)
|
rs2147201250
|
|
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)
|
rs137852818
|
|
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)
|
rs398122844
|
|
NM_001367721.1(CASK):c.2521-2A>G
|
rs398122845
|
|
NM_001367721.1(CASK):c.2521-2A>T
|
rs398122845
|
|
NM_001367721.1(CASK):c.305A>G (p.Glu102Gly)
|
rs1569429756
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001367721.1(CASK):c.802T>C (p.Tyr268His)
|
rs137852817
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
NM_001367721.1(CASK):c.83G>T (p.Arg28Leu)
|
rs137852816
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)
|
rs1602386709
|
|
NM_001367721.1(CASK):c.916-1G>A
|
rs2066382876
|
|
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del)
|
rs1601954686
|
|
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu)
|
rs137853266
|
|
NM_004463.3(FGD1):c.1392dup (p.Lys465fs)
|
|
|
NM_004463.3(FGD1):c.1396A>G (p.Met466Val)
|
rs137853267
|
|
NM_004463.3(FGD1):c.1422del (p.Phe474fs)
|
rs2147432826
|
|
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter)
|
rs1601953661
|
|
NM_004463.3(FGD1):c.1565G>A (p.Arg522His)
|
rs137853264
|
|
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter)
|
rs1601953552
|
|
NM_004463.3(FGD1):c.1695+1G>A
|
rs1922506770
|
|
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln)
|
rs28935497
|
|
NM_004463.3(FGD1):c.1843-1G>A
|
rs1601950553
|
|
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter)
|
rs387906718
|
|
NM_004463.3(FGD1):c.2192del (p.Lys731fs)
|
|
|
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer)
|
rs2147436223
|
|
NM_004463.3(FGD1):c.527del (p.Pro176fs)
|
rs756586058
|
|
NM_004463.3(FGD1):c.527dup (p.Leu177fs)
|
rs756586058
|
|
NM_004463.3(FGD1):c.545del (p.Pro182fs)
|
rs1922869724
|
|
NM_004463.3(FGD1):c.679del (p.Ser227fs)
|
rs1922859149
|
|
NM_004463.3(FGD1):c.944dup (p.Ala316fs)
|
rs1569541255
|
|
NM_005120.3(MED12):c.1924_1974+17dup
|
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
|
|
|
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)
|
rs863223706
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)
|
rs2147811858
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|