| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16044465T>G | CA494087916 | ABCC1 | c.825T>G (p.Val275=) n.900T>G c.699T>G (p.Val233=) n.777T>G c.-154T>G (n.-154T>G) c.520T>G n.425T>G c.801T>G (p.Val267=) c.879T>G (p.Val293=) c.753T>G (p.Val251=) c.741T>G (p.Val247=) c.615T>G (p.Val205=) | ClinVar dbSNP |
| 16 | g.16044465T>C | CA7923710 | ABCC1 | c.825T>C (p.Val275=) n.900T>C c.699T>C (p.Val233=) n.777T>C c.-154T>C (n.-154T>C) c.520T>C n.425T>C c.801T>C (p.Val267=) c.879T>C (p.Val293=) c.753T>C (p.Val251=) c.741T>C (p.Val247=) c.615T>C (p.Val205=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16044465T= | CA2210074733 | ABCC1 | c.825T= (p.Val275=) n.900T= c.699T= (p.Val233=) n.777T= c.-154T= (n.-154T=) c.520T= n.425T= c.801T= (p.Val267=) c.879T= (p.Val293=) c.753T= (p.Val251=) c.741T= (p.Val247=) c.615T= (p.Val205=) | dbSNP |