| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32379905C>A | CA387757725 | BRCA2 | c.9109C>A (p.Gln3037Lys) c.*476C>A (n.*476C>A) c.8740C>A (p.Gln2914Lys) c.*671C>A (n.*671C>A) c.9058C>A (p.Gln3020Lys) c.1525C>A (p.Gln509Lys) n.1236C>A c.9117C>A (n.9117C>A) c.1987C>A c.66C>A c.9013C>A (p.Gln3005Lys) | ClinVar dbSNP |
| 13 | g.32379905C>G | CA387757727 | BRCA2 | c.9109C>G (p.Gln3037Glu) c.*476C>G (n.*476C>G) c.8740C>G (p.Gln2914Glu) c.*671C>G (n.*671C>G) c.9058C>G (p.Gln3020Glu) c.1525C>G (p.Gln509Glu) n.1236C>G c.9117C>G (n.9117C>G) c.1987C>G c.66C>G c.9013C>G (p.Gln3005Glu) | dbSNP |
| 13 | g.32379905C>T | CA025985 | BRCA2 | c.9109C>T (p.Gln3037Ter) c.*476C>T (n.*476C>T) c.8740C>T (p.Gln2914Ter) c.*671C>T (n.*671C>T) c.9058C>T (p.Gln3020Ter) c.1525C>T (p.Gln509Ter) n.1236C>T c.9117C>T (n.9117C>T) c.1987C>T c.66C>T c.9013C>T (p.Gln3005Ter) | ClinVar dbSNP gnomAD v4 |