| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.41178373C>A | CA250542 | EP300 | c.6662C>A (p.Pro2221Gln) c.6584C>A (p.Pro2195Gln) | ClinVar dbSNP COSMIC |
| 22 | g.41178373C>T | CA10253914 | EP300 | c.6662C>T (p.Pro2221Leu) c.6584C>T (p.Pro2195Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.41178373C= | CA2406118543 | EP300 | c.6662C= (p.Pro2221=) c.6584C= (p.Pro2195=) | dbSNP |