| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112094815C>G | CA382618774 | SDHD | c.*64C>G (n.*64C>G) c.314+5804C>G (n.314+5804C>G) c.325C>G (p.Gln109Glu) c.208C>G (p.Gln70Glu) n.319+5804C>G c.*23C>G (n.*23C>G) c.180C>G (p.Asp60Glu) c.318C>G (p.Asp106Glu) c.369C>G c.145+5804C>G n.463C>G n.414C>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.112094815C>T | CA16613252 | SDHD | c.*64C>T (n.*64C>T) c.314+5804C>T (n.314+5804C>T) c.325C>T (p.Gln109Ter) c.208C>T (p.Gln70Ter) n.319+5804C>T c.*23C>T (n.*23C>T) c.180C>T (p.Asp60=) c.318C>T (p.Asp106=) c.369C>T c.145+5804C>T n.463C>T n.414C>T | ClinVar dbSNP |