| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114399537C>T | CA232585 | TBX5 | c.338G>A (p.Arg113Lys) c.188G>A (p.Arg63Lys) n.389G>A c.386G>A (p.Arg129Lys) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.114399537C>A | CA244128654 | TBX5 | c.338G>T (p.Arg113Ile) c.188G>T (p.Arg63Ile) n.389G>T c.386G>T (p.Arg129Ile) | dbSNP |
| 12 | g.114399537C= | CA2064651392 | TBX5 | c.338G= (p.Arg113=) c.188G= (p.Arg63=) n.389G= c.386G= (p.Arg129=) | dbSNP |