Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32337461G>C | CA387775378 | BRCA2 | c.3106G>C (p.Glu1036Gln) c.2737G>C (p.Glu913Gln) n.3106G>C | ClinVar dbSNP |
13 | g.32337461G>A | CA387775375 | BRCA2 | c.3106G>A (p.Glu1036Lys) c.2737G>A (p.Glu913Lys) n.3106G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32337461G>T | CA16614263 | BRCA2 | c.3106G>T (p.Glu1036Ter) c.2737G>T (p.Glu913Ter) n.3106G>T | ClinVar dbSNP gnomAD v4 |