Table 3 New mutations: frequency in control population and pathogenicity prediction
Change in | dbSNP | Prediction algorithms | ||||||
|---|---|---|---|---|---|---|---|---|
Nucleotide | Protein | ID | MAF (%) | phyloP | SIFT | PolyPhen2 | Mutation Taster | Align GVGD |
USH2A | ||||||||
c.563A > G | p.Tyr188Cy | NA | 0 | Moderately conserved nucleotide | Deleterious | Probably damaging | Disease causing | C0 |
del exon 31- > 35 | p.? | — | — | — | — | — | ||
c.15208G > T | p.Glu5070* | NA | 0 | — | — | — | — | — |
c.5950_5960dup | p.Tyr1987* | NA | 0 | — | — | — | — | — |
MYO7A | — | — | — | — | — | |||
c.849 G > A | p.Met283Ile | NA | 0 | Moderately conserved nucleotide | Tolerated | Benign | Disease causing | C0 |
c.1935 + 4 A > T | p.? | NA | 0 | — | — | — | — | — |
ADGRV1 | ||||||||
c.3334 G > T | p.Glu1112* | NA | 0 | — | — | — | — | — |
