| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.17216453G>A | CA8416092 | FLCN,MPRIP | c.1227C>T (p.Tyr409=) c.*61C>T (n.*61C>T) c.562-1037G>A c.1281C>T (p.Tyr427=) c.1005C>T (p.Tyr335=) n.2570+616C>T n.1734+616C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.17216453G>T | CA16607537 | FLCN,MPRIP | c.1227C>A (p.Tyr409Ter) c.*61C>A (n.*61C>A) c.562-1037G>T c.1281C>A (p.Tyr427Ter) c.1005C>A (p.Tyr335Ter) n.2570+616C>A n.1734+616C>A | ClinVar dbSNP |
| 17 | g.17216453G>C | CA10603582 | FLCN,MPRIP | c.1227C>G (p.Tyr409Ter) c.*61C>G (n.*61C>G) c.562-1037G>C c.1281C>G (p.Tyr427Ter) c.1005C>G (p.Tyr335Ter) n.2570+616C>G n.1734+616C>G | ClinVar dbSNP gnomAD v4 |