| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.161323636C>G | CA343359413 | SDHC | c.43C>G (p.Arg15Gly) c.20+9211C>G (n.20+9211C>G) c.23C>G n.517C>G n.73C>G n.68C>G | ClinVar dbSNP |
| 1 | g.161323636C>T | CA011542 | SDHC | c.43C>T (p.Arg15Ter) c.20+9211C>T (n.20+9211C>T) c.23C>T n.517C>T n.73C>T n.68C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |