No. | Location | Nucleotide change | Protein change | Parental origin | Type of change | Novelty | SIFT | PolyPhen-2 | Mutation Taster | HGMD | ClinVar | Freq in 1000 Genome | Freq in ExAC | Reference |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Exon 6 | c.623_626 del | p.Asp208Val fs*3 | paternal | het | novel | N/A | N/A | 1 | ND | ND | ND | ND | This study |
2 | Exon 11 | c.1399 G > C | p.Gly467Arg | maternal | het | reported | 0 | 1 | 1 | CM 093457 | ND | ND | ND | [20] |