| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114401830C>T | CA254300 | TBX5 | c.238G>A (p.Gly80Arg) c.88G>A (p.Gly30Arg) n.289G>A c.286G>A (p.Gly96Arg) | ClinVar dbSNP |
| 12 | g.114401830C= | CA2064655060 | TBX5 | c.238G= (p.Gly80=) c.88G= (p.Gly30=) n.289G= c.286G= (p.Gly96=) | dbSNP |