| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32394845del | CA954696415 | BRCA2 | c.9413del (p.Leu3138TyrfsTer25) c.*780del (n.*780del) c.9044del (p.Leu3015TyrfsTer25) c.*975del (n.*975del) c.*258del (n.*258del) c.9362del (p.Leu3121TyrfsTer25) c.1829del (p.Leu610TyrfsTer25) n.1540del c.9421del (n.9421del) c.2291del c.435del (n.435del) c.370del c.9317del (p.Leu3106TyrfsTer25) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32394845dup | CA10579832 | BRCA2 | c.9413dup (p.Leu3138PhefsTer12) c.*780dup (n.*780dup) c.9044dup (p.Leu3015PhefsTer12) c.*975dup (n.*975dup) c.*258dup (n.*258dup) c.9362dup (p.Leu3121PhefsTer12) c.1829dup (p.Leu610PhefsTer12) n.1540dup c.9421dup (n.9421dup) c.2291dup c.435dup (n.435dup) c.370dup c.9317dup (p.Leu3106PhefsTer12) | ClinVar dbSNP gnomAD v4 |