| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16148904C>A | CA338642652 | EPHA2 | c.297G>T (p.Lys99Asn) n.349G>T c.135G>T (p.Lys45Asn) | dbSNP |
| 1 | g.16148904C>G | CA18343178 | EPHA2 | c.297G>C (p.Lys99Asn) n.349G>C c.135G>C (p.Lys45Asn) | dbSNP gnomAD v4 |
| 1 | g.16148904C>T | CA625552 | EPHA2 | c.297G>A (p.Lys99=) n.349G>A c.135G>A (p.Lys45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |