| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114401863C>A | CA254295 | TBX5 | c.205G>T (p.Glu69Ter) c.55G>T (p.Glu19Ter) n.256G>T c.253G>T (p.Glu85Ter) | ClinVar dbSNP |
| 12 | g.114401863C>T | CA386863098 | TBX5 | c.205G>A (p.Glu69Lys) c.55G>A (p.Glu19Lys) n.256G>A c.253G>A (p.Glu85Lys) | dbSNP COSMIC |
| 12 | g.114401863C>G | CA386863095 | TBX5 | c.205G>C (p.Glu69Gln) c.55G>C (p.Glu19Gln) n.256G>C c.253G>C (p.Glu85Gln) | dbSNP gnomAD v4 |
| 12 | g.114401863C= | CA2064655129 | TBX5 | c.205G= (p.Glu69=) c.55G= (p.Glu19=) n.256G= c.253G= (p.Glu85=) | dbSNP |