| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114401853G>A | CA386863055 | TBX5 | c.215C>T (p.Thr72Met) c.65C>T (p.Thr22Met) n.266C>T c.263C>T (p.Thr88Met) | dbSNP gnomAD v4 |
| 12 | g.114401853G>T | CA323403 | TBX5 | c.215C>A (p.Thr72Lys) c.65C>A (p.Thr22Lys) n.266C>A c.263C>A (p.Thr88Lys) | dbSNP |
| 12 | g.114401853G= | CA2064655111 | TBX5 | c.215C= (p.Thr72=) c.65C= (p.Thr22=) n.266C= c.263C= (p.Thr88=) | dbSNP |