Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340301del | CA023403 | BRCA2 | c.5946del (p.Ser1982ArgfsTer22) c.5577del (p.Ser1859ArgfsTer22) n.5946del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32340301T= | CA2581132429 | BRCA2 | c.5946T= (p.Ser1982=) c.5577T= (p.Ser1859=) n.5946T= | dbSNP dbSNP |