Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340212G>T | CA023311 | BRCA2 | c.5857G>T (p.Glu1953Ter) c.5488G>T (p.Glu1830Ter) n.5857G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32340212G>C | CA387787411 | BRCA2 | c.5857G>C (p.Glu1953Gln) c.5488G>C (p.Glu1830Gln) n.5857G>C | dbSNP |
13 | g.32340212G>A | CA387787410 | BRCA2 | c.5857G>A (p.Glu1953Lys) c.5488G>A (p.Glu1830Lys) n.5857G>A | dbSNP |