Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.72134831A>G | CA1707951 | CYP26B1 | c.791T>C (p.Leu264Ser) c.218T>C (p.Leu73Ser) c.566T>C (p.Leu189Ser) c.617T>C (p.Leu206Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.72134831A>T | CA347224699 | CYP26B1 | c.791T>A (p.Leu264Ter) c.218T>A (p.Leu73Ter) c.566T>A (p.Leu189Ter) c.617T>A (p.Leu206Ter) | dbSNP |
2 | g.72134831A>C | CA347224697 | CYP26B1 | c.791T>G (p.Leu264Trp) c.218T>G (p.Leu73Trp) c.566T>G (p.Leu189Trp) c.617T>G (p.Leu206Trp) | dbSNP |
2 | g.72134831A= | CA1260374697 | CYP26B1 | c.791T= (p.Leu264=) c.218T= (p.Leu73=) c.566T= (p.Leu189=) c.617T= (p.Leu206=) | dbSNP |