| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19962740G>T | CA127289 | COMT | c.214G>T (p.Ala72Ser) c.64G>T (p.Ala22Ser) n.62G>T n.410G>T c.328G>T (p.Ala110Ser) c.625G>T (p.Ala209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962740G>A | CA10104487 | COMT | c.214G>A (p.Ala72Thr) c.64G>A (p.Ala22Thr) n.62G>A n.410G>A c.328G>A (p.Ala110Thr) c.625G>A (p.Ala209Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962740G= | CA1139772245 | COMT | c.214G= (p.Ala72=) c.64G= (p.Ala22=) n.62G= n.410G= c.328G= (p.Ala110=) c.625G= (p.Ala209=) | dbSNP |