| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.16148628C>G | CA416386259 | EPHA2 | c.573G>C (p.Leu191=) n.625G>C c.411G>C (p.Leu137=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.16148628C>T | CA625484 | EPHA2 | c.573G>A (p.Leu191=) n.625G>A c.411G>A (p.Leu137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.16148628C= | CA1140091853 | EPHA2 | c.573G= (p.Leu191=) n.625G= c.411G= (p.Leu137=) | dbSNP |