| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17027802A>G | CA015910 | SDHB | c.316T>C (p.Ser106Pro) c.445T>C (p.Ser149Pro) c.487T>C (p.Ser163Pro) n.404T>C n.421T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17027802A= | CA1140495524 | SDHB | c.316T= (p.Ser106=) c.445T= (p.Ser149=) c.487T= (p.Ser163=) n.404T= n.421T= | dbSNP |
| 1 | g.17027802A>T | CA338272762 | SDHB | c.316T>A (p.Ser106Thr) c.445T>A (p.Ser149Thr) c.487T>A (p.Ser163Thr) n.404T>A n.421T>A | dbSNP |