| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61483470A>G | CA340710 | TBX4 | c.1595A>G (p.Gln532Arg) c.1592A>G (p.Gln531Arg) c.1784A>G (p.Gln595Arg) c.1781A>G (p.Gln594Arg) | ClinVar dbSNP |
| 17 | g.61483470A= | CA2269043702 | TBX4 | c.1595A= (p.Gln532=) c.1592A= (p.Gln531=) c.1784A= (p.Gln595=) c.1781A= (p.Gln594=) | dbSNP |
| 17 | g.61483470A>C | CA400477281 | TBX4 | c.1595A>C (p.Gln532Pro) c.1592A>C (p.Gln531Pro) c.1784A>C (p.Gln595Pro) c.1781A>C (p.Gln594Pro) | dbSNP gnomAD v4 |