| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112094831A>G | CA016797 | SDHD | c.*80A>G (n.*80A>G) c.314+5820A>G (n.314+5820A>G) c.341A>G (p.Tyr114Cys) c.224A>G (p.Tyr75Cys) n.319+5820A>G c.*39A>G (n.*39A>G) c.196A>G (p.Met66Val) c.334A>G (p.Met112Val) c.385A>G c.145+5820A>G n.479A>G n.430A>G | ClinVar dbSNP |
| 11 | g.112094831A= | CA2000553843 | SDHD | c.*80A= (n.*80A=) c.314+5820A= (n.314+5820A=) c.341A= (p.Tyr114=) c.224A= (p.Tyr75=) n.319+5820A= c.*39A= (n.*39A=) c.196A= (p.Met66=) c.334A= (p.Met112=) c.385A= c.145+5820A= n.479A= n.430A= | dbSNP |