Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340956del | CA024201 | BRCA2 | c.6601del (p.Ser2201LeufsTer5) c.6232del (p.Ser2078LeufsTer5) n.6601del | ClinVar dbSNP |
13 | g.32340955_32340956del | CA024197 | BRCA2 | c.6600_6601del (p.Ser2201Ter) c.6231_6232del (p.Ser2078Ter) n.6600_6601del | ClinVar dbSNP gnomAD v2 gnomAD v4 |