Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32357882G>C | CA247471160 | BRCA2 | c.7758G>C (p.Trp2586Cys) c.7389G>C (p.Trp2463Cys) c.225G>C (p.Trp75Cys) c.323G>C n.7758G>C c.7662G>C (p.Trp2554Cys) | dbSNP gnomAD v4 |
13 | g.32357882G>T | CA387745820 | BRCA2 | c.7758G>T (p.Trp2586Cys) c.7389G>T (p.Trp2463Cys) c.225G>T (p.Trp75Cys) c.323G>T n.7758G>T c.7662G>T (p.Trp2554Cys) | ClinVar dbSNP |
13 | g.32357882G>A | CA025260 | BRCA2 | c.7758G>A (p.Trp2586Ter) c.7389G>A (p.Trp2463Ter) c.225G>A (p.Trp75Ter) c.323G>A n.7758G>A c.7662G>A (p.Trp2554Ter) | ClinVar dbSNP COSMIC COSMIC |