Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32363342C>G | CA025468 | BRCA2 | c.8140C>G (p.Gln2714Glu) c.7771C>G (p.Gln2591Glu) c.607C>G (p.Gln203Glu) c.8148C>G (n.8148C>G) c.705C>G c.8044C>G (p.Gln2682Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32363342C>T | CA025469 | BRCA2 | c.8140C>T (p.Gln2714Ter) c.7771C>T (p.Gln2591Ter) c.607C>T (p.Gln203Ter) c.8148C>T (n.8148C>T) c.705C>T c.8044C>T (p.Gln2682Ter) | ClinVar dbSNP |