| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43877865C>G | CA253362 | ABCG8 | c.1974C>G (p.Tyr658Ter) c.1971C>G (p.Tyr657Ter) c.1986C>G (p.Tyr662Ter) c.1983C>G (p.Tyr661Ter) c.1758C>G (p.Tyr586Ter) n.2476C>G n.2490C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43877865C= | CA2493965167 | ABCG8 | c.1974C= (p.Tyr658=) c.1971C= (p.Tyr657=) c.1986C= (p.Tyr662=) c.1983C= (p.Tyr661=) c.1758C= (p.Tyr586=) n.2476C= n.2490C= | dbSNP |
| 2 | g.43877865C>T | CA425908339 | ABCG8 | c.1974C>T (p.Tyr658=) c.1971C>T (p.Tyr657=) c.1986C>T (p.Tyr662=) c.1983C>T (p.Tyr661=) c.1758C>T (p.Tyr586=) n.2476C>T n.2490C>T | dbSNP gnomAD v4 |