| Sample |
Mutated exons |
Mutation Type |
Nucleotide change |
Codon/aa change |
| 1 |
4:Homozygous |
Frame shift (deletion ) |
c308 delG |
Stop codon |
| 9 |
4:Homozygous |
Frame shift (deletion ) |
c308 delG |
Stop codon |
| 14 |
4:Homozygous 6:Heterozygous |
Frame shift (deletion )
missense |
c308 delG
G →C |
Stop codon
Ser →Thr |
| 20 |
1:Homozygous |
Base substitution |
G→ T |
5' donor splicing site |
| 22 |
1:Homozygous |
Base substitution |
G→ T |
5' donor splicing site |
| 27 |
6:Heterozygous
4:Homozygous |
Missense
Frame shift (deletion ) |
G→ C
c 308 delG |
Ser →Thr
Stop codon |
| 32 |
4:Homozygous |
Frame shift (deletion ) |
c 308 delG |
Stop codon |
| X |
4:Homozygous |
Frame shift (deletion ) |
c 308 delG |
Stop codon |
| B |
8:Homozygous |
Base substitution |
G to A (p.D413N) |
Asp to Asn |
|
