| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114366312G>A | CA321019 | TBX5 | c.835C>T (p.Arg279Ter) c.685C>T (p.Arg229Ter) c.883C>T (p.Arg295Ter) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.114366312G= | CA2064638473 | TBX5 | c.835C= (p.Arg279=) c.685C= (p.Arg229=) c.883C= (p.Arg295=) | dbSNP |
| 12 | g.114366312G>C | CA386926523 | TBX5 | c.835C>G (p.Arg279Gly) c.685C>G (p.Arg229Gly) c.883C>G (p.Arg295Gly) | dbSNP gnomAD v4 |