| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.15470613C>A | CA118389 | COLQ | c.640G>T (p.Glu214Ter) n.636G>T c.*402G>T (n.*402G>T) n.406G>T c.610G>T (p.Glu204Ter) c.538G>T (p.Glu180Ter) c.469G>T (p.Glu157Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.15470613C= | CA1347589262 | COLQ | c.640G= (p.Glu214=) n.636G= c.*402G= (n.*402G=) n.406G= c.610G= (p.Glu204=) c.538G= (p.Glu180=) c.469G= (p.Glu157=) | dbSNP |
| 3 | g.15470613C>T | CA351598179 | COLQ | c.640G>A (p.Glu214Lys) n.636G>A c.*402G>A (n.*402G>A) n.406G>A c.610G>A (p.Glu204Lys) c.538G>A (p.Glu180Lys) c.469G>A (p.Glu157Lys) | ClinVar dbSNP |