| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.16068182C>T | CA7924011 | ABCC1 | c.1704C>T (p.Tyr568=) c.1578C>T (p.Tyr526=) c.726C>T (p.Tyr242=) c.1399C>T c.1680C>T (p.Tyr560=) c.1732-3460C>T (n.1732-3460C>T) c.1758C>T (p.Tyr586=) c.1632C>T (p.Tyr544=) c.1620C>T (p.Tyr540=) c.1494C>T (p.Tyr498=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.16068182C= | CA2210089689 | ABCC1 | c.1704C= (p.Tyr568=) c.1578C= (p.Tyr526=) c.726C= (p.Tyr242=) c.1399C= c.1680C= (p.Tyr560=) c.1732-3460C= (n.1732-3460C=) c.1758C= (p.Tyr586=) c.1632C= (p.Tyr544=) c.1620C= (p.Tyr540=) c.1494C= (p.Tyr498=) | dbSNP |