| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.41173768T>C | CA16609101 | EP300 | c.*2683T>C (n.*2683T>C) c.4763T>C (p.Met1588Thr) c.4685T>C (p.Met1562Thr) | ClinVar dbSNP gnomAD v4 |
| 22 | g.41173768T= | CA2406116176 | EP300 | c.*2683T= (n.*2683T=) c.4763T= (p.Met1588=) c.4685T= (p.Met1562=) | dbSNP |