| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90690991C>G | CA360368579 | ADGRV1 | c.6901C>G (p.Gln2301Glu) c.265+14782C>G (n.265+14782C>G) n.2360C>G c.758+33C>G n.45C>G c.4192C>G (p.Gln1398Glu) c.1680+33C>G n.6964+33C>G c.6898C>G (p.Gln2300Glu) c.6820C>G (p.Gln2274Glu) c.4204C>G (p.Gln1402Glu) c.6805C>G (p.Gln2269Glu) c.69+33C>G (n.69+33C>G) n.6967+33C>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.90690991C>T | CA253955 | ADGRV1 | c.6901C>T (p.Gln2301Ter) c.265+14782C>T (n.265+14782C>T) n.2360C>T c.758+33C>T n.45C>T c.4192C>T (p.Gln1398Ter) c.1680+33C>T n.6964+33C>T c.6898C>T (p.Gln2300Ter) c.6820C>T (p.Gln2274Ter) c.4204C>T (p.Gln1402Ter) c.6805C>T (p.Gln2269Ter) c.69+33C>T (n.69+33C>T) n.6967+33C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |