Patient ID |
Clinical phenotype |
Region |
Nucleotide change |
Codon change (HGVSnomenclature) |
Domain |
Mutation type |
FB1 |
severe |
exon 7 |
c.943G>C |
p.A315P |
A1 |
missense |
FB2 |
severe |
exon 3 |
c.277_281insCAGGT |
p.Pro93GlnfsX70 |
A1 |
small insertion |
FB3 |
mild |
exon 11 |
c.1700T>C |
p.I567T |
A2 |
missense |
FB4 |
mild |
exon 11 |
c.1700T |
>C p.I567T |
A2 |
missense |
FB5 |
mild |
exon 3 |
c.341C>A |
p.P114H |
A1 |
missense |
FB6 |
severe |
exon 11 |
c.1631A>G |
p.D544G |
A2 |
missense |
FB7 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
FB8 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
FB9 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
FB10* |
severe |
exon 4 |
c.530A>C |
p.Y177S |
A1 |
missense |
FB11 |
severe |
exon 16 |
c.5392G>A |
p.A1798T |
A3 |
missense |
FB12 |
mild |
exon 11 |
c.1700T>C |
p.I567T |
A2 |
missense |
FB13 |
moderate |
exon 16 |
c.5398C>T |
p.R1800C |
A3 |
missense |
FB14 |
severe |
exon 14 |
c.3637dupA |
p.I1213NfsX28 |
B |
small duplication |
FB15* |
severe |
exon 14 |
c.4128C>G |
p.Y1376X |
B |
nonsense |
FB16 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
FB17 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
FB18 |
severe |
exon 18 |
c.5830_5840delATAATGGATAC |
p.Ile1944ThrfsX23 |
A3 |
small deletion |
FB19§ |
severe |
exons 1-22 |
deletion ex1-22 |
/ |
/ |
large deletion |
FB20§ |
severe |
exons 1-22 |
deletion ex1-22 |
/ |
/ |
large deletion |
M1 |
mild |
exon 11 |
c.1636C>T |
p.R546W |
A2 |
missense |
M2§ |
mild |
exon 9 |
c.1372C>T |
p.R458C |
A2 |
missense |
M3§ |
mild |
exon 9 |
c.1372C>T |
p.R458C |
A2 |
missense |
M4 |
mild |
exon 14 |
c.3465dupA |
p.Ser1156IlefsX10 |
B |
small duplication |
M5 |
mild |
exon 11 |
c.1636C>T |
p.R546W |
A2 |
missense |
M6 |
mild |
exon 11 |
c.1700T>C |
p.I567T |
A2 |
missense |
M7 |
mild |
exon 23 |
c.6506G>A |
p.R2169H |
C1 |
missense |
Patient ID |
Clinical phenotype |
Region |
Nucleotide change |
Codon change (HGVSnomenclature) |
Patient # |
Mutation type |
M9 |
moderate |
exon 24 |
c.6638C>G |
p.S2213C |
C2 |
missense |
M10 |
mild |
exon 11 |
c.1636C>T |
p.R546W |
A2 |
missense |
M11 |
mild |
exon 11 |
c.1636C>T |
p.R546W |
A2 |
missense |
M12 |
mild |
exon 23 |
c.6506G>A |
p.R2169H |
C1 |
missense |
M13 |
mild |
exon 11 |
c.1648C>T |
p.R550C |
A2 |
missense |
M14 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
M15 |
mild |
exon 11 |
c.1636C>T |
p.R546W |
A2 |
missense |
M16 |
mild |
exon 16 |
c.5405A>G |
p.Y1802C |
A3 |
missense |
M17 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
M18 |
mild |
exon 22 |
c.6304G>A |
p.G2102S |
C1 |
missense |
M19 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
M20 |
severe |
exon 19 |
c.6045G>A |
p.W2015X |
A3 |
nonsense |
M21 |
mild |
exon 12 |
c.1834C>T |
p.R612C |
A2 |
missense |
M22 |
mild |
exon 12 |
c.1834C>T |
p.R612C |
A2 |
missense |
M23 |
severe |
exons 1-22 |
deletion ex1-22 |
/ |
/ |
large deletion |
M24 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
C1§ |
severe |
exons 10-11 |
deletion ex10-11 |
/ |
/ |
large deletion |
C2§ |
severe |
exons 10-11 |
deletion ex10-11 |
/ |
/ |
large deletion |
C3 |
severe |
exon 3 |
c.331G>A |
p.A111T |
A1 |
missense |
C4 |
severe |
intron 22 |
IVS22 |
/ |
/ |
inversion |
P1° |
moderate |
exon 18 |
c.5883G>A |
p.W1961X |
A3 |
nonsense |
P2 |
mild |
exon 11 |
c.1700T>C |
p.I567T |
A2 |
missense |
P3 |
mild |
exon 11 |
c.1700T>C |
p.I567T |
A2 |
missense |
P4 |
mild |
exon 11 |
c.1700T>C |
p.I567T |
A2 |
missense |