| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3767778C>G | CA16620206 | CREBBP | c.3192G>C (p.Glu1064Asp) c.3078G>C (p.Glu1026Asp) c.1797G>C (p.Glu599Asp) n.446G>C c.3147G>C (p.Glu1049Asp) c.2775G>C (p.Glu925Asp) c.3138G>C (p.Glu1046Asp) c.2439G>C (p.Glu813Asp) c.3186G>C (p.Glu1062Asp) | ClinVar dbSNP |
| 16 | g.3767778C>T | CA493287007 | CREBBP | c.3192G>A (p.Glu1064=) c.3078G>A (p.Glu1026=) c.1797G>A (p.Glu599=) n.446G>A c.3147G>A (p.Glu1049=) c.2775G>A (p.Glu925=) c.3138G>A (p.Glu1046=) c.2439G>A (p.Glu813=) c.3186G>A (p.Glu1062=) | dbSNP gnomAD v4 |