| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.134951682C>A | CA354733039 | EPHB1 | c.435C>A (p.Ser145Arg) c.369C>A (p.Ser123Arg) n.435C>A c.417C>A (p.Ser139Arg) | dbSNP |
| 3 | g.134951682C>G | CA354733040 | EPHB1 | c.435C>G (p.Ser145Arg) c.369C>G (p.Ser123Arg) n.435C>G c.417C>G (p.Ser139Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.134951682C>T | CA2629619 | EPHB1 | c.435C>T (p.Ser145=) c.369C>T (p.Ser123=) n.435C>T c.417C>T (p.Ser139=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |