| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114385521C>T | CA254298 | TBX5 | c.710G>A (p.Arg237Gln) c.560G>A (p.Arg187Gln) c.758G>A (p.Arg253Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114385521C>G | CA16042869 | TBX5 | c.710G>C (p.Arg237Pro) c.560G>C (p.Arg187Pro) c.758G>C (p.Arg253Pro) | ClinVar dbSNP |
| 12 | g.114385521C= | CA2064648280 | TBX5 | c.710G= (p.Arg237=) c.560G= (p.Arg187=) c.758G= (p.Arg253=) | dbSNP |