| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17022724G>C | CA089702 | SDHB | c.478C>G (p.Arg160Gly) c.607C>G (p.Arg203Gly) c.649C>G (p.Arg217Gly) n.74C>G n.313C>G n.583C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17022724G>A | CA016064 | SDHB | c.478C>T (p.Arg160Cys) c.607C>T (p.Arg203Cys) c.649C>T (p.Arg217Cys) n.74C>T n.313C>T n.583C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17022724G= | CA1143404330 | SDHB | c.478C= (p.Arg160=) c.607C= (p.Arg203=) c.649C= (p.Arg217=) n.74C= n.313C= n.583C= | dbSNP |
| 1 | g.17022724G>T | CA338270503 | SDHB | c.478C>A (p.Arg160Ser) c.607C>A (p.Arg203Ser) c.649C>A (p.Arg217Ser) n.74C>A n.313C>A n.583C>A | ClinVar dbSNP |