Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.17028643A>C | CA015797 | SDHB | c.209T>G (p.Ile70Ser) c.338T>G (p.Ile113Ser) c.380T>G (p.Ile127Ser) n.297T>G n.357+11T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.17028643A= | CA1156080492 | SDHB | c.209T= (p.Ile70=) c.338T= (p.Ile113=) c.380T= (p.Ile127=) n.297T= n.357+11T= | dbSNP |