| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.100284342C>G | CA374239703 | INVS | c.1807C>G (p.Arg603Gly) n.2116C>G c.1519C>G (p.Arg507Gly) c.1486C>G (p.Arg496Gly) c.829C>G (p.Arg277Gly) n.2063C>G n.2005C>G | dbSNP |
| 9 | g.100284342C>T | CA121808 | INVS | c.1807C>T (p.Arg603Ter) n.2116C>T c.1519C>T (p.Arg507Ter) c.1486C>T (p.Arg496Ter) c.829C>T (p.Arg277Ter) n.2063C>T n.2005C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.100284342C>A | CA466440691 | INVS | c.1807C>A (p.Arg603=) n.2116C>A c.1519C>A (p.Arg507=) c.1486C>A (p.Arg496=) c.829C>A (p.Arg277=) n.2063C>A n.2005C>A | dbSNP gnomAD v4 |
| 9 | g.100284342C= | CA1867718287 | INVS | c.1807C= (p.Arg603=) n.2116C= c.1519C= (p.Arg507=) c.1486C= (p.Arg496=) c.829C= (p.Arg277=) n.2063C= n.2005C= | dbSNP |