| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.172251287C>G | CA2705394 | FNDC3B | c.536C>G (p.Thr179Ser) c.455C>G (p.Thr152Ser) n.677C>G c.427+3511C>G (n.427+3511C>G) c.508+3511C>G (n.508+3511C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.172251287C>T | CA355533165 | FNDC3B | c.536C>T (p.Thr179Ile) c.455C>T (p.Thr152Ile) n.677C>T c.427+3511C>T (n.427+3511C>T) c.508+3511C>T (n.508+3511C>T) | dbSNP gnomAD v4 |