| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.48528275C>T | CA236348 | EBP | c.511C>T (p.Arg171Cys) c.469+990C>T (n.469+990C>T) n.469C>T n.632C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.48528275C= | CA2428298619 | EBP | c.511C= (p.Arg171=) c.469+990C= (n.469+990C=) n.469C= n.632C= | dbSNP |
| X | g.48528275C>G | CA412852870 | EBP | c.511C>G (p.Arg171Gly) c.469+990C>G (n.469+990C>G) n.469C>G n.632C>G | dbSNP gnomAD v4 |