| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.41169525G>C | CA411701514 | EP300 | c.*2115G>C (n.*2115G>C) c.4195G>C (p.Asp1399His) c.4117G>C (p.Asp1373His) | dbSNP |
| 22 | g.41169525G>T | CA16602840 | EP300 | c.*2115G>T (n.*2115G>T) c.4195G>T (p.Asp1399Tyr) c.4117G>T (p.Asp1373Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 22 | g.41169525G>A | CA16602839 | EP300 | c.*2115G>A (n.*2115G>A) c.4195G>A (p.Asp1399Asn) c.4117G>A (p.Asp1373Asn) | ClinVar dbSNP COSMIC |