Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32354916G>T | CA6941056 | BRCA2 | c.7063G>T (p.Glu2355Ter) c.6694G>T (p.Glu2232Ter) n.7063G>T c.6967G>T (p.Glu2323Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32354916G>A | CA247468247 | BRCA2 | c.7063G>A (p.Glu2355Lys) c.6694G>A (p.Glu2232Lys) n.7063G>A c.6967G>A (p.Glu2323Lys) | ClinVar dbSNP gnomAD v4 |
13 | g.32354916G>C | CA387738345 | BRCA2 | c.7063G>C (p.Glu2355Gln) c.6694G>C (p.Glu2232Gln) n.7063G>C c.6967G>C (p.Glu2323Gln) | dbSNP |