Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17024025G>C | CA016001 | SDHB | c.419C>G (p.Pro140Arg) c.548C>G (p.Pro183Arg) c.590C>G (p.Pro197Arg) n.524C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17024025G>A | CA338271122 | SDHB | c.419C>T (p.Pro140Leu) c.548C>T (p.Pro183Leu) c.590C>T (p.Pro197Leu) n.524C>T | ClinVar dbSNP |