| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.105541676C>T | CA2524077 | ALCAM | c.902C>T (p.Thr301Met) c.273-3547C>T n.1031C>T c.749C>T (p.Thr250Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.105541676C>A | CA2524078 | ALCAM | c.902C>A (p.Thr301Lys) c.273-3547C>A n.1031C>A c.749C>A (p.Thr250Lys) | dbSNP ExAC gnomAD v2 |