| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15466437C>A | CA118398 | COLQ | c.718G>T (p.Gly240Ter) n.714G>T c.*480G>T (n.*480G>T) n.484G>T c.688G>T (p.Gly230Ter) c.616G>T (p.Gly206Ter) c.547G>T (p.Gly183Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.15466437C= | CA1347587513 | COLQ | c.718G= (p.Gly240=) n.714G= c.*480G= (n.*480G=) n.484G= c.688G= (p.Gly230=) c.616G= (p.Gly206=) c.547G= (p.Gly183=) | dbSNP |