| 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 |
| 13 | g.32363342C>A | CA387749473 | BRCA2 | c.8140C>A (p.Gln2714Lys) c.7771C>A (p.Gln2591Lys) c.607C>A (p.Gln203Lys) c.8148C>A (n.8148C>A) c.705C>A c.8044C>A (p.Gln2682Lys) | ClinVar dbSNP |
| 13 | g.32363342C= | CA2082835684 | BRCA2 | c.8140C= (p.Gln2714=) c.7771C= (p.Gln2591=) c.607C= (p.Gln203=) c.8148C= (n.8148C=) c.705C= c.8044C= (p.Gln2682=) | dbSNP |