Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50796443C>G | CA8052722 | CYLD,CYLD-AS2 | c.2806C>G (p.Arg936Gly) c.2797C>G (p.Arg933Gly) c.177+1973C>G c.2251C>G (p.Arg751Gly) c.2767C>G (p.Arg923Gly) c.2677+2015C>G (n.2677+2015C>G) n.3090C>G n.2450+5680G>C n.2924C>G n.4187+5680G>C c.2131C>G (p.Arg711Gly) n.2895C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.50796443C>T | CA214928 | CYLD,CYLD-AS2 | c.2806C>T (p.Arg936Ter) c.2797C>T (p.Arg933Ter) c.177+1973C>T c.2251C>T (p.Arg751Ter) c.2767C>T (p.Arg923Ter) c.2677+2015C>T (n.2677+2015C>T) n.3090C>T n.2450+5680G>A n.2924C>T n.4187+5680G>A c.2131C>T (p.Arg711Ter) n.2895C>T | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |