| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137018032A>C | CA201709296 | ABCA2 | c.2127T>G (p.Asp709Glu) c.2037T>G (p.Asp679Glu) c.2034T>G (p.Asp678Glu) n.2167T>G n.85T>G c.86T>G c.2124T>G (p.Asp708Glu) c.78T>G (p.Asp26Glu) n.2161T>G | dbSNP |
| 9 | g.137018032A>G | CA5355232 | ABCA2 | c.2127T>C (p.Asp709=) c.2037T>C (p.Asp679=) c.2034T>C (p.Asp678=) n.2167T>C n.85T>C c.86T>C c.2124T>C (p.Asp708=) c.78T>C (p.Asp26=) n.2161T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |