| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32370972C>G | CA10589501 | BRCA2 | c.8504C>G (p.Ser2835Ter) c.8135C>G (p.Ser2712Ter) c.971C>G (p.Ser324Ter) c.8512C>G (n.8512C>G) c.1069C>G c.2C>G (p.Ser1Ter) c.8408C>G (p.Ser2803Ter) | ClinVar dbSNP |
| 13 | g.32370972C>T | CA387752690 | BRCA2 | c.8504C>T (p.Ser2835Leu) c.8135C>T (p.Ser2712Leu) c.971C>T (p.Ser324Leu) c.8512C>T (n.8512C>T) c.1069C>T c.2C>T (p.Ser1Leu) c.8408C>T (p.Ser2803Leu) | dbSNP |
| 13 | g.32370972C>A | CA025685 | BRCA2 | c.8504C>A (p.Ser2835Ter) c.8135C>A (p.Ser2712Ter) c.971C>A (p.Ser324Ter) c.8512C>A (n.8512C>A) c.1069C>A c.2C>A (p.Ser1Ter) c.8408C>A (p.Ser2803Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.32370972C= | CA2082815405 | BRCA2 | c.8504C= (p.Ser2835=) c.8135C= (p.Ser2712=) c.971C= (p.Ser324=) c.8512C= (n.8512C=) c.1069C= c.2C= (p.Ser1=) c.8408C= (p.Ser2803=) | dbSNP |