F01
|
c.782G>A(p.Arg261Gln) c.194T>C(p.Ile65Thr)
|
c.194T>C(p.Ile65Thr)
|
c.782G>A(p.Arg261Gln)
|
Affected
|
Affected
|
Y
|
F02
|
c.782G>A(p.Arg261Gln) c.1068C>A(p.Tyr356Ter)
|
c.782G>A(p.Arg261Gln)
|
c.1068C>A(p.Tyr356Ter)
|
Affected
|
Affected
|
Y
|
F03
|
c.526C>T(p.Arg176Ter) c.1197A>T(p.Val399Val)
|
c.1197A>T(p.Val399Val)
|
c.526C>T(p.Arg176Ter)
|
Paternal mutation carriers
|
Paternal mutation carriers
|
Y
|
F04
|
c.721C>T(p.Arg241Cys) c.728G>A(p.Arg243Gln)
|
c.728G>A(p.Arg243Gln)
|
c.721C>T(p.Arg241Cys)
|
N
|
N
|
Y
|
F05
|
c.442-1G>A(p.IVS4-1G>A) c.1197A>T(p.Val399Val)
|
c.1197A>T(p.Val399Val)
|
c.442-1G>A(p.IVS4-1G>A)
|
Paternal mutation carriers
|
Paternal mutation carriers
|
Y
|
F06
|
c.728G>A(p.Arg243Gln) c.728G>A(p.Arg243Gln)
|
c.728G>A(p.Arg243Gln)
|
c.728G>A(p.Arg243Gln)
|
Paternal mutation carriers
|
Paternal mutation carriers
|
Y
|
F07
|
c.331C>T(p.Arg111Ter) c.611A>G(p.Tyr204Cys)
|
c.611A>G(p.Tyr204Cys)
|
c.331C>T(p.Arg111Ter)
|
Affected
|
Affected
|
Y
|
F08
|
c.1194A>G(p.Lys398Lys) c.1238G>C(p.Arg413Pro)
|
c.1238G>C(p.Arg413Pro)
|
c.1194A>G(p.Lys398Lys)
|
Affected
|
Affected
|
Y
|
F09
|
c.611A>G(p.Tyr204Cys) c.728G>A(p.Arg243Gln)
|
c.611A>G(p.Tyr204Cys)
|
c.728G>A(p.Arg243Gln)
|
Paternal mutation carriers
|
Paternal mutation carriers
|
Y
|
F10
|
c.611A>G(p.Tyr204Cys) c.782G>A(p.Arg261Gln)
|
c.611A>G(p.Tyr204Cys)
|
c.782G>A(p.Arg261Gln)
|
N
|
N
|
Y
|
F11
|
c.721C>T(p.Arg241Cys) c.721C>T(p.Arg241Cys)
|
c.721C>T(p.Arg241Cys)
|
c.721C>T(p.Arg241Cys)
|
Paternal mutation carriers
|
Paternal mutation carriers
|
Y
|
F12
|
c.721C>T(p.Arg241Cys) c.331C>T(p.Arg111Ter)
|
c.721C>T(p.Arg241Cys)
|
c.331C>T(p.Arg111Ter)
|
Maternal mutation carriers
|
Maternal mutation carriers
|
Y
|
F13
|
c.968C>T(p.Thr241Ile) c.208_210delTCT(p.Ser70del)
|
c.208_210delTCT(p.Ser70del)
|
c.968C>T(p.Thr241Ile)
|
Paternal mutation carriers
|
Paternal mutation
carriers
|
Y
|
F14
|
c.232_235delGAAT(p.Glu78Phefs*13) E5_E6del
|
c.232_235delGAAT(p.Glu78Phefs*13)
|
E5_E6del
|
Maternal mutation carriers
|
Maternal mutation carriers
|
Y
|
F15
|
c.116_118delTTC(p.Phe39del) c.526C>T(p.Arg176Ter)
|
c.116_118delTTC(p.Phe39del)
|
c.526C>T(p.Arg176Ter)
|
Affected
|
Affected
|
Y
|
F16
|
c.482T>C(p.Phe161Ser) c.1197A>T(p.Val399Val)
|
c.482T>C(p.Phe161Ser)
|
c.1197A>T(p.Val399Val)
|
N
|
N
|
Y
|
F17
|
c.722delG(p.Arg241Profs) c.1238G>C(p.Arg413Pro)
|
c.1238G>C(p.Arg413Pro)
|
c.722delG(p.Arg241Profs)
|
Maternal mutation carriers
|
Maternal mutation carriers
|
Y
|
F18
|
c.728G>A(p.Arg243Gln) c.442-1G>A(IVS4-1G>A)
|
c.728G>A(p.Arg243Gln)
|
c.442-1G>A(IVS4-1G>A)
|
Maternal mutation carriers
|
Maternal mutation carriers
|
Y
|
F19
|
c.331C>T(p.Arg111Ter) c.1301C>A(p.Ala434Asp)
|
c.1301C>A(p.Ala434Asp)
|
c.331C>T(p.Arg111Ter)
|
N
|
N
|
Y
|
F20
|
c.728G>A(p.Arg243Gln) c.728G>A(p.Arg243Gln)
|
c.728G>A(p.Arg243Gln)
|
c.728G>A(p.Arg243Gln)
|
Affected
|
Affected
|
Y
|
F21
|
c.442-1G>A(p.IVS4-1G>A) c.875C>T(p.Pro3292Leu)
|
c.875C>T(p.Pro3292Leu)
|
c.442-1G>A(p.IVS4-1G>A)
|
Maternal mutation carriers
|
Maternal mutation carriers
|
Y
|