| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.17028736C>T | CA089580 | SDHB | c.116G>A (p.Gly39Asp) c.245G>A (p.Gly82Asp) c.287G>A (p.Gly96Asp) n.204G>A n.275G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.17028736C>G | CA338275300 | SDHB | c.116G>C (p.Gly39Ala) c.245G>C (p.Gly82Ala) c.287G>C (p.Gly96Ala) n.204G>C n.275G>C | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17028736C>A | CA338275296 | SDHB | c.116G>T (p.Gly39Val) c.245G>T (p.Gly82Val) c.287G>T (p.Gly96Val) n.204G>T n.275G>T | ClinVar dbSNP |