Exon | Nucleotide mutations | Amino acid variants | Variant type | AF in 1000G | gnomAD_exome | Esp6500 | PolyPhen-2 | PROVEAN score | Mutation Taster | SIFT |
---|---|---|---|---|---|---|---|---|---|---|
3 | c.433 C > T | p.Arg145Cys | missense | ND | 0.000012 | 0.000077 | 0.999 | −7.139 (Deleterious) | 0.9999 (Disease) | 0 |
8 | c.1077 C > G | p.Asn359Lys | missense | 0.00019 | ND | ND | 1.000 | −5.706 (Deleterious) | 0.9999 (Disease) | 0 |
13 | c.1666 C > T | p.Pro556Ser | missense | ND | 0.00002 | ND | 0.331 | −7.03 (Deleterious) | 0.9999 (Disease) | 0.002 |