| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17033060C>A | CA338276378 | SDHB | c.115G>T (p.Gly39Cys) c.244G>T (p.Gly82Cys) c.286G>T (p.Gly96Cys) n.298G>T n.203G>T n.274G>T | ClinVar dbSNP |
| 1 | g.17033060C>G | CA338276380 | SDHB | c.115G>C (p.Gly39Arg) c.244G>C (p.Gly82Arg) c.286G>C (p.Gly96Arg) n.298G>C n.203G>C n.274G>C | ClinVar dbSNP |
| 1 | g.17033060C>T | CA015701 | SDHB | c.115G>A (p.Gly39Ser) c.244G>A (p.Gly82Ser) c.286G>A (p.Gly96Ser) n.298G>A n.203G>A n.274G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |