| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.22906853G>A | CA119709 | EPHB2 | c.2032G>A (p.Asp678Asn) c.2017G>A (p.Asp673Asn) c.2035G>A (p.Asp679Asn) c.1858G>A (p.Asp620Asn) c.2014G>A (p.Asp672Asn) c.1942G>A (p.Asp648Asn) c.709G>A (p.Asp237Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.22906853G>T | CA338949163 | EPHB2 | c.2032G>T (p.Asp678Tyr) c.2017G>T (p.Asp673Tyr) c.2035G>T (p.Asp679Tyr) c.1858G>T (p.Asp620Tyr) c.2014G>T (p.Asp672Tyr) c.1942G>T (p.Asp648Tyr) c.709G>T (p.Asp237Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |