Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32338907G>C | CA387781794 | BRCA2 | c.4552G>C (p.Glu1518Gln) c.4183G>C (p.Glu1395Gln) n.4552G>C | dbSNP COSMIC COSMIC |
13 | g.32338907G>T | CA020419 | BRCA2 | c.4552G>T (p.Glu1518Ter) c.4183G>T (p.Glu1395Ter) n.4552G>T | ClinVar dbSNP ExAC COSMIC |
13 | g.32338907G>A | CA387781792 | BRCA2 | c.4552G>A (p.Glu1518Lys) c.4183G>A (p.Glu1395Lys) n.4552G>A | ClinVar dbSNP |