| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114398675G>A | CA244127973 | TBX5 | c.408C>T (p.Tyr136=) c.258C>T (p.Tyr86=) n.459C>T c.456C>T (p.Tyr152=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.114398675G>C | CA386862160 | TBX5 | c.408C>G (p.Tyr136Ter) c.258C>G (p.Tyr86Ter) n.459C>G c.456C>G (p.Tyr152Ter) | ClinVar dbSNP |
| 12 | g.114398675G>T | CA254306 | TBX5 | c.408C>A (p.Tyr136Ter) c.258C>A (p.Tyr86Ter) n.459C>A c.456C>A (p.Tyr152Ter) | ClinVar dbSNP |