| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32398396C>A | CA387766735 | BRCA2 | c.*406C>A (n.*406C>A) c.*1250C>A (n.*1250C>A) c.9514C>A (p.Gln3172Lys) c.*1445C>A (n.*1445C>A) c.9832C>A (p.Gln3278Lys) c.2299C>A (p.Gln767Lys) n.2010C>A c.9883C>A (p.Gln3295Lys) c.9891C>A (n.9891C>A) n.471C>A c.9787C>A (p.Gln3263Lys) | dbSNP |
| 13 | g.32398396C>T | CA026321 | BRCA2 | c.*406C>T (n.*406C>T) c.*1250C>T (n.*1250C>T) c.9514C>T (p.Gln3172Ter) c.*1445C>T (n.*1445C>T) c.9832C>T (p.Gln3278Ter) c.2299C>T (p.Gln767Ter) n.2010C>T c.9883C>T (p.Gln3295Ter) c.9891C>T (n.9891C>T) n.471C>T c.9787C>T (p.Gln3263Ter) | ClinVar dbSNP |
| 13 | g.32398396C>G | CA387766738 | BRCA2 | c.*406C>G (n.*406C>G) c.*1250C>G (n.*1250C>G) c.9514C>G (p.Gln3172Glu) c.*1445C>G (n.*1445C>G) c.9832C>G (p.Gln3278Glu) c.2299C>G (p.Gln767Glu) n.2010C>G c.9883C>G (p.Gln3295Glu) c.9891C>G (n.9891C>G) n.471C>G c.9787C>G (p.Gln3263Glu) | dbSNP |