| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32380124del | CA026043 | BRCA2 | c.9235del (p.Val3079PhefsTer4) c.*602del (n.*602del) c.8866del (p.Val2956PhefsTer4) c.*797del (n.*797del) c.9184del (p.Val3062PhefsTer4) c.1651del (p.Val551PhefsTer4) n.1362del c.9243del (n.9243del) c.2113del c.118del (p.Val40PhefsTer4) c.192del c.9139del (p.Val3047PhefsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32380124G= | CA2082841077 | BRCA2 | c.9235G= (p.Val3079=) c.*602G= (n.*602G=) c.8866G= (p.Val2956=) c.*797G= (n.*797G=) c.9184G= (p.Val3062=) c.1651G= (p.Val551=) n.1362G= c.9243G= (n.9243G=) c.2113G= c.118G= (p.Val40=) c.192G= c.9139G= (p.Val3047=) | dbSNP dbSNP |