| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.157084773C>A | CA4067026 | ARID1B | c.2359C>A (p.Gln787Lys) c.373C>A (p.Gln125Lys) c.2398C>A (p.Gln800Lys) c.2110C>A (p.Gln704Lys) c.607C>A (p.Gln203Lys) n.260C>A n.8C>A c.-141C>A (n.-141C>A) c.2149C>A (p.Gln717Lys) n.1108C>A c.376C>A (p.Gln126Lys) n.218C>A c.1060C>A (p.Gln354Lys) c.640C>A (p.Gln214Lys) c.259C>A (p.Gln87Lys) c.2191C>A (p.Gln731Lys) n.2274C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.157084773C>T | CA209839 | ARID1B | c.2359C>T (p.Gln787Ter) c.373C>T (p.Gln125Ter) c.2398C>T (p.Gln800Ter) c.2110C>T (p.Gln704Ter) c.607C>T (p.Gln203Ter) n.260C>T n.8C>T c.-141C>T (n.-141C>T) c.2149C>T (p.Gln717Ter) n.1108C>T c.376C>T (p.Gln126Ter) n.218C>T c.1060C>T (p.Gln354Ter) c.640C>T (p.Gln214Ter) c.259C>T (p.Gln87Ter) c.2191C>T (p.Gln731Ter) n.2274C>T | ClinVar dbSNP COSMIC COSMIC |
| 6 | g.157084773C>G | CA366387240 | ARID1B | c.2359C>G (p.Gln787Glu) c.373C>G (p.Gln125Glu) c.2398C>G (p.Gln800Glu) c.2110C>G (p.Gln704Glu) c.607C>G (p.Gln203Glu) n.260C>G n.8C>G c.-141C>G (n.-141C>G) c.2149C>G (p.Gln717Glu) n.1108C>G c.376C>G (p.Gln126Glu) n.218C>G c.1060C>G (p.Gln354Glu) c.640C>G (p.Gln214Glu) c.259C>G (p.Gln87Glu) c.2191C>G (p.Gln731Glu) n.2274C>G | dbSNP |