12 | g.114385521C>T | CA254298 | TBX5 | c.710G>A (p.Arg237Gln) c.560G>A (p.Arg187Gln) c.758G>A (p.Arg253Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.114385521C>G | CA16042869 | TBX5 | c.710G>C (p.Arg237Pro) c.560G>C (p.Arg187Pro) c.758G>C (p.Arg253Pro)
| ClinVar dbSNP |