| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32394716A>C | CA387760817 | BRCA2 | c.9284A>C (p.Asp3095Ala) c.*651A>C (n.*651A>C) c.8915A>C (p.Asp2972Ala) c.*846A>C (n.*846A>C) c.*129A>C (n.*129A>C) c.9233A>C (p.Asp3078Ala) c.1700A>C (p.Asp567Ala) n.1411A>C c.9292A>C (n.9292A>C) c.2162A>C c.306A>C (n.306A>C) c.241A>C c.9188A>C (p.Asp3063Ala) | ClinVar dbSNP |
| 13 | g.32394716A>G | CA16614398 | BRCA2 | c.9284A>G (p.Asp3095Gly) c.*651A>G (n.*651A>G) c.8915A>G (p.Asp2972Gly) c.*846A>G (n.*846A>G) c.*129A>G (n.*129A>G) c.9233A>G (p.Asp3078Gly) c.1700A>G (p.Asp567Gly) n.1411A>G c.9292A>G (n.9292A>G) c.2162A>G c.306A>G (n.306A>G) c.241A>G c.9188A>G (p.Asp3063Gly) | ClinVar dbSNP |
| 13 | g.32394716A= | CA2082822182 | BRCA2 | c.9284A= (p.Asp3095=) c.*651A= (n.*651A=) c.8915A= (p.Asp2972=) c.*846A= (n.*846A=) c.*129A= (n.*129A=) c.9233A= (p.Asp3078=) c.1700A= (p.Asp567=) n.1411A= c.9292A= (n.9292A=) c.2162A= c.306A= (n.306A=) c.241A= c.9188A= (p.Asp3063=) | dbSNP |