| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114385522G>A | CA163404 | TBX5 | c.709C>T (p.Arg237Trp) c.559C>T (p.Arg187Trp) c.757C>T (p.Arg253Trp) | ClinVar dbSNP |
| 12 | g.114385522G>C | CA386859678 | TBX5 | c.709C>G (p.Arg237Gly) c.559C>G (p.Arg187Gly) c.757C>G (p.Arg253Gly) | dbSNP |
| 12 | g.114385522G= | CA2064648298 | TBX5 | c.709C= (p.Arg237=) c.559C= (p.Arg187=) c.757C= (p.Arg253=) | dbSNP |