| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161340638G>T | CA343366014 | SDHC | c.*225G>T (n.*225G>T) c.224G>T (p.Gly75Val) c.65G>T (p.Gly22Val) c.122G>T (p.Gly41Val) c.322G>T c.*47G>T (n.*47G>T) n.281G>T n.276G>T | dbSNP |
| 1 | g.161340638G>C | CA343366012 | SDHC | c.*225G>C (n.*225G>C) c.224G>C (p.Gly75Ala) c.65G>C (p.Gly22Ala) c.122G>C (p.Gly41Ala) c.322G>C c.*47G>C (n.*47G>C) n.281G>C n.276G>C | dbSNP |
| 1 | g.161340638G>A | CA016245 | SDHC | c.*225G>A (n.*225G>A) c.224G>A (p.Gly75Asp) c.65G>A (p.Gly22Asp) c.122G>A (p.Gly41Asp) c.322G>A c.*47G>A (n.*47G>A) n.281G>A n.276G>A | ClinVar dbSNP gnomAD v4 |