| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.80214672C>T | CA117262 | CARD14,SGSH | n.2845-1194C>T c.449G>A (p.Arg150Gln) c.467G>A (p.Arg156Gln) c.484G>A (p.Gly162Arg) n.376-344G>A n.469G>A n.374-344G>A c.51G>A c.343G>A (p.Gly115Arg) c.308G>A n.458G>A c.188G>A (p.Arg63Gln) c.250-344G>A (n.250-344G>A) n.430G>A n.363G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.80214672C= | CA2277864344 | CARD14,SGSH | n.2845-1194C= c.449G= (p.Arg150=) c.467G= (p.Arg156=) c.484G= (p.Gly162=) n.376-344G= n.469G= n.374-344G= c.51G= c.343G= (p.Gly115=) c.308G= n.458G= c.188G= (p.Arg63=) c.250-344G= (n.250-344G=) n.430G= n.363G= | dbSNP |