| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18171691C>A | CA273603 | MYO15A | n.2540C>A n.2078C>A c.1928C>A (p.Ser643Ter) n.2870C>A c.10136C>A (p.Ser3379Ter) n.2567C>A n.1586C>A n.905C>A c.678C>A c.556C>A (p.Arg186=) c.10130C>A (p.Ser3377Ter) c.10076C>A (p.Ser3359Ter) c.10139C>A (p.Ser3380Ter) | ClinVar dbSNP gnomAD v4 |
| 17 | g.18171691C>T | CA8425816 | MYO15A | n.2540C>T n.2078C>T c.1928C>T (p.Ser643Leu) n.2870C>T c.10136C>T (p.Ser3379Leu) n.2567C>T n.1586C>T n.905C>T c.678C>T c.556C>T (p.Arg186Ter) c.10130C>T (p.Ser3377Leu) c.10076C>T (p.Ser3359Leu) c.10139C>T (p.Ser3380Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |