| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.22863060G>C | CA678474 | EPHB2 | c.835G>C (p.Ala279Pro) c.817G>C (p.Ala273Pro) n.76G>C c.814G>C (p.Ala272Pro) | dbSNP ExAC gnomAD v2 |
| 1 | g.22863060G>T | CA119704 | EPHB2 | c.835G>T (p.Ala279Ser) c.817G>T (p.Ala273Ser) n.76G>T c.814G>T (p.Ala272Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |