Gene | NM/NP | Variant | Type | RS | Location | In silico assessments | Frequency (allele count) | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Polyphen2 | Mutation taster | Provean | Sift | Clin Var | Iranome Allel frequency | gnomAD | 1000 Genome | ||||||
DTNA | NM_001198943.1 NP_001185872.1 | c.G681C p.E227D | Het | rs1477078144 | Chr 18q12.1 Exon6 | Probably damaging | Disease causing | Neutral | Deleterious | NA | 0 | 0 | 0 |
NEBL | NM_006393.3 NP_006384.1 | c.T298C p.S100P | Het | - | Chr 10p12.31 Exon3 | - | Disease causing | Deleterious | – | NA | 0 | 0 | 0 |
SCN5A | NM_001099404.2 NP_001092874.1 | c.A1673G p.H558R | Het | rs1805124 | Chr3p22.2 Exon12 | Benign | Polymorphism | Neutral | – | With Pathogenic allele | 1600 | 3143 Het 20,427 | 151 Het 852 |