Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340783C>T | CA024021 | BRCA2 | c.6428C>T (p.Ser2143Leu) c.6059C>T (p.Ser2020Leu) n.6428C>T | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32340783C>G | CA10589377 | BRCA2 | c.6428C>G (p.Ser2143Ter) c.6059C>G (p.Ser2020Ter) n.6428C>G | ClinVar dbSNP |
13 | g.32340783C>A | CA10583121 | BRCA2 | c.6428C>A (p.Ser2143Ter) c.6059C>A (p.Ser2020Ter) n.6428C>A | ClinVar dbSNP |