| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114398710C>G | CA325430 | TBX5 | c.373G>C (p.Gly125Arg) c.223G>C (p.Gly75Arg) n.424G>C c.421G>C (p.Gly141Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.114398710C= | CA2064649882 | TBX5 | c.373G= (p.Gly125=) c.223G= (p.Gly75=) n.424G= c.421G= (p.Gly141=) | dbSNP |
| 12 | g.114398710C>T | CA386862236 | TBX5 | c.373G>A (p.Gly125Ser) c.223G>A (p.Gly75Ser) n.424G>A c.421G>A (p.Gly141Ser) | dbSNP gnomAD v4 |