| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16132227C>T | CA122982 | EPHA2 | c.2162G>A (p.Arg721Gln) c.2000G>A (p.Arg667Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16132227C>G | CA338622616 | EPHA2 | c.2162G>C (p.Arg721Pro) c.2000G>C (p.Arg667Pro) | dbSNP gnomAD v4 |
| 1 | g.16132227C= | CA1141534616 | EPHA2 | c.2162G= (p.Arg721=) c.2000G= (p.Arg667=) | dbSNP |