| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.17216477dup | CA224153 | FLCN,MPRIP | c.1203dup (p.Ile402HisfsTer?) c.*37dup (n.*37dup) c.562-1013dup c.1257dup (p.Ile420HisfsTer?) c.981dup (p.Ile328HisfsTer?) n.2570+592dup n.1734+592dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.17216477G= | CA3223305036 | FLCN,MPRIP | c.1203C= (p.Arg401=) c.*37C= (n.*37C=) c.562-1013G= c.1257C= (p.Arg419=) c.981C= (p.Arg327=) n.2570+592C= n.1734+592C= | dbSNP dbSNP |