| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.23603471G>T | CA288488 | PALB2 | c.3555C>A (p.Tyr1185Ter) c.*1034C>A (n.*1034C>A) c.*184C>A (n.*184C>A) c.3393C>A (p.Tyr1131Ter) c.2664C>A (p.Tyr888Ter) n.4896C>A c.2502C>A (p.Tyr834Ter) n.4069C>A n.2753C>A n.2244C>A c.*326C>A (n.*326C>A) c.1083C>A (p.Tyr361Ter) c.3549C>A (p.Tyr1183Ter) c.315C>A n.4257C>A c.3318C>A (p.Tyr1106Ter) c.3312C>A (p.Tyr1104Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.23603471G>A | CA494173490 | PALB2 | c.3555C>T (p.Tyr1185=) c.*1034C>T (n.*1034C>T) c.*184C>T (n.*184C>T) c.3393C>T (p.Tyr1131=) c.2664C>T (p.Tyr888=) n.4896C>T c.2502C>T (p.Tyr834=) n.4069C>T n.2753C>T n.2244C>T c.*326C>T (n.*326C>T) c.1083C>T (p.Tyr361=) c.3549C>T (p.Tyr1183=) c.315C>T n.4257C>T c.3318C>T (p.Tyr1106=) c.3312C>T (p.Tyr1104=) | ClinVar dbSNP |
| 16 | g.23603471G>C | CA151250 | PALB2 | c.3555C>G (p.Tyr1185Ter) c.*1034C>G (n.*1034C>G) c.*184C>G (n.*184C>G) c.3393C>G (p.Tyr1131Ter) c.2664C>G (p.Tyr888Ter) n.4896C>G c.2502C>G (p.Tyr834Ter) n.4069C>G n.2753C>G n.2244C>G c.*326C>G (n.*326C>G) c.1083C>G (p.Tyr361Ter) c.3549C>G (p.Tyr1183Ter) c.315C>G n.4257C>G c.3318C>G (p.Tyr1106Ter) c.3312C>G (p.Tyr1104Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |