| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32362582A>T | CA387747078 | BRCA2 | c.7865A>T (p.Asn2622Ile) c.7496A>T (p.Asn2499Ile) c.332A>T (p.Asn111Ile) c.7873A>T (p.Ile2625Phe) c.430A>T n.7873A>T c.7769A>T (p.Asn2590Ile) | ClinVar dbSNP |
| 13 | g.32362582A>G | CA025313 | BRCA2 | c.7865A>G (p.Asn2622Ser) c.7496A>G (p.Asn2499Ser) c.332A>G (p.Asn111Ser) c.7873A>G (p.Ile2625Val) c.430A>G n.7873A>G c.7769A>G (p.Asn2590Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32362582A>C | CA387747079 | BRCA2 | c.7865A>C (p.Asn2622Thr) c.7496A>C (p.Asn2499Thr) c.332A>C (p.Asn111Thr) c.7873A>C (p.Ile2625Leu) c.430A>C n.7873A>C c.7769A>C (p.Asn2590Thr) | ClinVar dbSNP |