Exon | Mutation type | Nucleotide change | Mutation results | Probably damaging |
---|---|---|---|---|
1 | Synonymous | c.6C>T | p.D2D= | – |
1 | Missense | c.29C>T | p.P10L | 0.819 |
1 | Missense | c.34A>G | p.S12G | 0.748 |
1 | Missense | c.112A>G | p.R38G | 1 |
1 | deletion | c.153_delA | Frameshift, stop at codon 57(TAA) | – |
1 | Synonymous | c.201 T>C | H67H= | – |
2 | deletion | c.352_363delGCGTTTGACTTA | A118_L121del, Frameshift | – |
8 | Missense | c.1058A>G | p. Y353C | 1 |
8 | Insertions | c.1103_1104insG | Frameshift and stop at codon 377(TGA) | Â |
9 | deletion | C.1242-1245delAGAC | L414_D415del, frameshift and stop at codon 434(TAA) | – |