Patient

Location

Base change

Protein change

Polyphen prediction

SIFT prediction

1

Intron 2

c.79-13T>A

Potential frameshift (c.78_79ins23)

Not applicable

Not applicable

2

Exon 5

c.320-1_320delGGinsTA

Destruction of normal exon 4/exon 5 splicing

Not applicable

Not applicable

3

Exon 5

c.328G>A

p.(Val110Met)

Probably damaging

Deleterious

4

Exon 5

c.353C>T

p.(Thr118Met)

Probably damaging

Deleterious

5

Exon 5

c.353C>T

p.(Thr118Met)

Probably damaging

Deleterious

6

Exon 5

c.392C>G

p.(Ser131Cys)

Possibly damaging

Deleterious

7

Exon 5

c.395A>G

p.(Tyr132Cys)

Possibly damaging

Deleterious

8

Exon 5

c.434delT

Frameshift

Not applicable

Not applicable

9

Exon 5

c.469C>T

p.(Arg157Trp)

Probably damaging

Deleterious