| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32340219C>A | CA023317 | BRCA2 | c.5864C>A (p.Ser1955Ter) c.5495C>A (p.Ser1832Ter) n.5864C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32340219C>G | CA023319 | BRCA2 | c.5864C>G (p.Ser1955Ter) c.5495C>G (p.Ser1832Ter) n.5864C>G | ClinVar dbSNP |
| 13 | g.32340219C>T | CA16614179 | BRCA2 | c.5864C>T (p.Ser1955Leu) c.5495C>T (p.Ser1832Leu) n.5864C>T | ClinVar dbSNP gnomAD v4 |