| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32370445T>A | CA387752449 | BRCA2 | c.8375T>A (p.Leu2792His) c.8006T>A (p.Leu2669His) c.842T>A (p.Leu281His) c.8383T>A (n.8383T>A) c.940T>A c.8279T>A (p.Leu2760His) | dbSNP |
| 13 | g.32370445T>C | CA025612 | BRCA2 | c.8375T>C (p.Leu2792Pro) c.8006T>C (p.Leu2669Pro) c.842T>C (p.Leu281Pro) c.8383T>C (n.8383T>C) c.940T>C c.8279T>C (p.Leu2760Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32370445T>G | CA387752450 | BRCA2 | c.8375T>G (p.Leu2792Arg) c.8006T>G (p.Leu2669Arg) c.842T>G (p.Leu281Arg) c.8383T>G (n.8383T>G) c.940T>G c.8279T>G (p.Leu2760Arg) | ClinVar dbSNP |
| 13 | g.32370445T= | CA2082813422 | BRCA2 | c.8375T= (p.Leu2792=) c.8006T= (p.Leu2669=) c.842T= (p.Leu281=) c.8383T= (n.8383T=) c.940T= c.8279T= (p.Leu2760=) | dbSNP |