Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.17215228G>C | CA196224 | FLCN,MPRIP | c.1389C>G (p.Tyr463Ter) c.*223C>G (n.*223C>G) c.562-2262G>C c.1443C>G (p.Tyr481Ter) c.1167C>G (p.Tyr389Ter) n.2659C>G n.1823C>G | ClinVar dbSNP gnomAD v4 |
17 | g.17215228G>A | CA8416011 | FLCN,MPRIP | c.1389C>T (p.Tyr463=) c.*223C>T (n.*223C>T) c.562-2262G>A c.1443C>T (p.Tyr481=) c.1167C>T (p.Tyr389=) n.2659C>T n.1823C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.17215228G>T | CA10586253 | FLCN,MPRIP | c.1389C>A (p.Tyr463Ter) c.*223C>A (n.*223C>A) c.562-2262G>T c.1443C>A (p.Tyr481Ter) c.1167C>A (p.Tyr389Ter) n.2659C>A n.1823C>A | ClinVar dbSNP |