Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.17216402del | CA224154 | FLCN,MPRIP | c.1285del (p.His429ThrfsTer?) c.*119del (n.*119del) c.562-1088del c.1339del (p.His447ThrfsTer?) c.1063del (p.His355ThrfsTer?) n.2570+674del n.1734+674del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.17216402dup | CA090951 | FLCN,MPRIP | c.1285dup (p.His429ProfsTer27) c.*119dup (n.*119dup) c.562-1088dup c.1339dup (p.His447ProfsTer27) c.1063dup (p.His355ProfsTer27) n.2570+674dup n.1734+674dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |