| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.41934112C>G | CA371067009 | KAT6A | c.4108G>C (p.Glu1370Gln) c.4114G>C (p.Glu1372Gln) c.2789G>C c.4240G>C (p.Glu1414Gln) c.4219G>C (p.Glu1407Gln) c.4126G>C (p.Glu1376Gln) c.2680G>C (p.Glu894Gln) | ClinVar dbSNP |
| 8 | g.41934112C>T | CA4729544 | KAT6A | c.4108G>A (p.Glu1370Lys) c.4114G>A (p.Glu1372Lys) c.2789G>A c.4240G>A (p.Glu1414Lys) c.4219G>A (p.Glu1407Lys) c.4126G>A (p.Glu1376Lys) c.2680G>A (p.Glu894Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.41934112C>A | CA004207 | KAT6A | c.4108G>T (p.Glu1370Ter) c.4114G>T (p.Glu1372Ter) c.2789G>T c.4240G>T (p.Glu1414Ter) c.4219G>T (p.Glu1407Ter) c.4126G>T (p.Glu1376Ter) c.2680G>T (p.Glu894Ter) | ClinVar dbSNP |