| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3729216dup | CA277424 | CREBBP | c.5837dup (p.Pro1947ThrfsTer19) c.5723dup (p.Pro1909ThrfsTer19) c.5792dup (p.Pro1932ThrfsTer19) c.5420dup (p.Pro1808ThrfsTer19) c.5576dup (p.Pro1860ThrfsTer19) c.5783dup (p.Pro1929ThrfsTer19) c.5084dup (p.Pro1696ThrfsTer19) c.5831dup (p.Pro1945ThrfsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.3729216del | CA271432 | CREBBP | c.5837del (p.Pro1946HisfsTer30) c.5723del (p.Pro1908HisfsTer30) c.5792del (p.Pro1931HisfsTer30) c.5420del (p.Pro1807HisfsTer30) c.5576del (p.Pro1859HisfsTer30) c.5783del (p.Pro1928HisfsTer30) c.5084del (p.Pro1695HisfsTer30) c.5831del (p.Pro1944HisfsTer30) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |