Exon | Gene position | cDNA position | Codon and amino-acid change | Mutation | Mutation type |
---|---|---|---|---|---|
5 | g.12524A > G | c.536A > G | p.H179R His-Arg | Missense | A:T > G:C |
6 | g.12706C > T | c.637C > T | p.R213X Arg-Stop | Nonsense | G:C > A:T at CpG |
6 | g.12706C > T | c.637C > T | p.R213X Arg-Stop | Nonsense | G:C > A:T at CpG |
7 | g.13386C > T | c.749C > T | p.P250L Pro-Leu | Missense | G:C > A:T |
7 | g.13400A > T | c.763A > T | p.I255F Ile-Phe | Missense | A:T > T:A |
8 | g.13776G > A | c.796G > A | p.G266R Gly-Arg | Missense | G:C > A:T |
8 | g.13813C > T | c.833C > T | p.P278L Pro-Leu | Missense | G:C > A:T |
8 | g.13816G > A | c.836G > A | p.G279E Gly-Glu | Missense | G:C > A:T |
8 | g.13896C > T | c.916C > T | p.R306X Arg-Stop | Nonsense | G:C > A:T at CpG |
8 | g.13811_13815del5 | c.831_835del5 | p.? | FS* | - |
6 | g.12729_12732del4 | c.660_663del4 | p.? | FS | - |