| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3770915G>C | CA394551763 | CREBBP | c.2535C>G (p.Cys845Trp) c.2421C>G (p.Cys807Trp) c.1140C>G (p.Cys380Trp) c.2490C>G (p.Cys830Trp) c.2464-1562C>G (n.2464-1562C>G) c.2481C>G (p.Cys827Trp) c.1782C>G (p.Cys594Trp) c.2529C>G (p.Cys843Trp) | dbSNP |
| 16 | g.3770915G>T | CA271372 | CREBBP | c.2535C>A (p.Cys845Ter) c.2421C>A (p.Cys807Ter) c.1140C>A (p.Cys380Ter) c.2490C>A (p.Cys830Ter) c.2464-1562C>A (n.2464-1562C>A) c.2481C>A (p.Cys827Ter) c.1782C>A (p.Cys594Ter) c.2529C>A (p.Cys843Ter) | ClinVar dbSNP |
| 16 | g.3770915G>A | CA493394919 | CREBBP | c.2535C>T (p.Cys845=) c.2421C>T (p.Cys807=) c.1140C>T (p.Cys380=) c.2490C>T (p.Cys830=) c.2464-1562C>T (n.2464-1562C>T) c.2481C>T (p.Cys827=) c.1782C>T (p.Cys594=) c.2529C>T (p.Cys843=) | dbSNP |