| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32379900A>G | CA025981 | BRCA2 | c.9104A>G (p.Tyr3035Cys) c.*471A>G (n.*471A>G) c.8735A>G (p.Tyr2912Cys) c.*666A>G (n.*666A>G) c.9053A>G (p.Tyr3018Cys) c.1520A>G (p.Tyr507Cys) n.1231A>G c.9112A>G (n.9112A>G) c.1982A>G c.61A>G c.9008A>G (p.Tyr3003Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32379900A>C | CA025980 | BRCA2 | c.9104A>C (p.Tyr3035Ser) c.*471A>C (n.*471A>C) c.8735A>C (p.Tyr2912Ser) c.*666A>C (n.*666A>C) c.9053A>C (p.Tyr3018Ser) c.1520A>C (p.Tyr507Ser) n.1231A>C c.9112A>C (n.9112A>C) c.1982A>C c.61A>C c.9008A>C (p.Tyr3003Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32379900A>T | CA10579811 | BRCA2 | c.9104A>T (p.Tyr3035Phe) c.*471A>T (n.*471A>T) c.8735A>T (p.Tyr2912Phe) c.*666A>T (n.*666A>T) c.9053A>T (p.Tyr3018Phe) c.1520A>T (p.Tyr507Phe) n.1231A>T c.9112A>T (n.9112A>T) c.1982A>T c.61A>T c.9008A>T (p.Tyr3003Phe) | ClinVar dbSNP |