| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90778008C>T | CA273611 | ADGRV1 | c.12631C>T (p.Arg4211Ter) c.1585C>T (p.Arg529Ter) c.265+101799C>T (n.265+101799C>T) n.3050C>T n.1208C>T n.12644C>T c.12628C>T (p.Arg4210Ter) c.12550C>T (p.Arg4184Ter) c.9934C>T (p.Arg3312Ter) c.12652C>T (p.Arg4218Ter) c.12649C>T (p.Arg4217Ter) c.12571C>T (p.Arg4191Ter) c.12556C>T (p.Arg4186Ter) c.5770C>T (p.Arg1924Ter) c.5749C>T (p.Arg1917Ter) n.12647C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.90778008C>G | CA360387429 | ADGRV1 | c.12631C>G (p.Arg4211Gly) c.1585C>G (p.Arg529Gly) c.265+101799C>G (n.265+101799C>G) n.3050C>G n.1208C>G n.12644C>G c.12628C>G (p.Arg4210Gly) c.12550C>G (p.Arg4184Gly) c.9934C>G (p.Arg3312Gly) c.12652C>G (p.Arg4218Gly) c.12649C>G (p.Arg4217Gly) c.12571C>G (p.Arg4191Gly) c.12556C>G (p.Arg4186Gly) c.5770C>G (p.Arg1924Gly) c.5749C>G (p.Arg1917Gly) n.12647C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90778008C= | CA1562896464 | ADGRV1 | c.12631C= (p.Arg4211=) c.1585C= (p.Arg529=) c.265+101799C= (n.265+101799C=) n.3050C= n.1208C= n.12644C= c.12628C= (p.Arg4210=) c.12550C= (p.Arg4184=) c.9934C= (p.Arg3312=) c.12652C= (p.Arg4218=) c.12649C= (p.Arg4217=) c.12571C= (p.Arg4191=) c.12556C= (p.Arg4186=) c.5770C= (p.Arg1924=) c.5749C= (p.Arg1917=) n.12647C= | dbSNP |