| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19962745G>A | CA10104488 | COMT | c.219G>A (p.Gln73=) c.69G>A (p.Gln23=) n.67G>A n.415G>A c.333G>A (p.Gln111=) c.630G>A (p.Gln210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.19962745G= | CA2396125270 | COMT | c.219G= (p.Gln73=) c.69G= (p.Gln23=) n.67G= n.415G= c.333G= (p.Gln111=) c.630G= (p.Gln210=) | dbSNP |
| 22 | g.19962745G>C | CA410688825 | COMT | c.219G>C (p.Gln73His) c.69G>C (p.Gln23His) n.67G>C n.415G>C c.333G>C (p.Gln111His) c.630G>C (p.Gln210His) | dbSNP gnomAD v4 |