Chr | Position | Ref. allele | Allele 1 | Allele 2 | Gene | dbSNP | Protein/amino acid | PolyPhen2 prediction HumDiv | LRT prediction | PROVEAN prediction | |
---|---|---|---|---|---|---|---|---|---|---|---|
Father | 5 | 90079091 | A | A | G | ADGRV1 | rs182698253 | p.H4461R | Probably damaging | Deleterious | Damaging |
8 | 141771274 | T | T | C | PTK2 | N/A | p.Y526C | N/A | N/A | N/A | |
16 | 88504716 | G | G | T | ZNF469 | rs568704426 | p.G3585V | Benign | N/A | Neutral | |
17 | 39674737 | G | G | A | KRT15 | rs201164162 | p.R115C | Probably damaging | Deleterious | Damaging | |
Daughter | 17 | 39674737 | G | G | A | KRT15 | rs201164162 | p.R115C | Probably damaging | Deleterious | Damaging |
Son | 5 | 90079091 | A | A | G | ADGRV1 | rs182698253 | p.H4461R | Probably damaging | Deleterious | Damaging |
16 | 88504716 | G | G | T | ZNF469 | rs568704426 | p.G3585V | Benign | N/A | Neutral | |
17 | 39674737 | G | G | A | KRT15 | rs201164162 | p.R115C | Probably damaging | Deleterious | Damaging |