| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15635624C>A | CA278168 | BTD | c.185C>A (p.Ala62Asp) n.1024C>A c.245C>A (p.Ala82Asp) c.251C>A (p.Ala84Asp) n.320C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.15635624C>T | CA278170 | BTD | c.185C>T (p.Ala62Val) n.1024C>T c.245C>T (p.Ala82Val) c.251C>T (p.Ala84Val) n.320C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |