| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112094851C>T | CA10582872 | SDHD | c.*100C>T (n.*100C>T) c.314+5840C>T (n.314+5840C>T) c.361C>T (p.Gln121Ter) c.244C>T (p.Gln82Ter) n.319+5840C>T c.*59C>T (n.*59C>T) c.216C>T (p.Cys72=) c.354C>T (p.Cys118=) c.405C>T c.145+5840C>T n.499C>T n.450C>T | ClinVar dbSNP |
| 11 | g.112094851C= | CA2000553919 | SDHD | c.*100C= (n.*100C=) c.314+5840C= (n.314+5840C=) c.361C= (p.Gln121=) c.244C= (p.Gln82=) n.319+5840C= c.*59C= (n.*59C=) c.216C= (p.Cys72=) c.354C= (p.Cys118=) c.405C= c.145+5840C= n.499C= n.450C= | dbSNP |