| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.92802646T>C | CA386026713 | EEA1 | c.2428A>G (p.Lys810Glu) c.2554A>G (p.Lys852Glu) c.2290A>G (p.Lys764Glu) c.2446A>G (p.Lys816Glu) | dbSNP gnomAD v4 |
| 12 | g.92802646T>G | CA6718619 | EEA1 | c.2428A>C (p.Lys810Gln) c.2554A>C (p.Lys852Gln) c.2290A>C (p.Lys764Gln) c.2446A>C (p.Lys816Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |