Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17024015C>T | CA016011 | SDHB | c.429G>A (p.Trp143Ter) c.558G>A (p.Trp186Ter) c.600G>A (p.Trp200Ter) n.534G>A | ClinVar dbSNP gnomAD v4 |
1 | g.17024015C>A | CA016022 | SDHB | c.429G>T (p.Trp143Cys) c.558G>T (p.Trp186Cys) c.600G>T (p.Trp200Cys) n.534G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |