Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337717C>G | CA017866 | BRCA2 | c.3362C>G (p.Ser1121Ter) c.2993C>G (p.Ser998Ter) n.3362C>G | ClinVar dbSNP gnomAD v4 |
13 | g.32337717C>A | CA017863 | BRCA2 | c.3362C>A (p.Ser1121Ter) c.2993C>A (p.Ser998Ter) n.3362C>A | ClinVar dbSNP gnomAD v4 |
13 | g.32337717C>T | CA387776385 | BRCA2 | c.3362C>T (p.Ser1121Leu) c.2993C>T (p.Ser998Leu) n.3362C>T | ClinVar dbSNP |