| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.71539065C>A | CA3297078 | BDP1 | c.5916C>A (p.Ile1972=) n.6108C>A c.686C>A c.78C>A (p.Ile26=) n.6410C>A n.6411C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.71539065C= | CA1554346471 | BDP1 | c.5916C= (p.Ile1972=) n.6108C= c.686C= c.78C= (p.Ile26=) n.6410C= n.6411C= | dbSNP |