| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3757373C>G | CA394568514 | CREBBP | c.3613G>C (p.Glu1205Gln) c.3499G>C (p.Glu1167Gln) c.2218G>C (p.Glu740Gln) c.3568G>C (p.Glu1190Gln) c.3196G>C (p.Glu1066Gln) c.3559G>C (p.Glu1187Gln) c.2860G>C (p.Glu954Gln) c.3607G>C (p.Glu1203Gln) | dbSNP |
| 16 | g.3757373C>A | CA271391 | CREBBP | c.3613G>T (p.Glu1205Ter) c.3499G>T (p.Glu1167Ter) c.2218G>T (p.Glu740Ter) c.3568G>T (p.Glu1190Ter) c.3196G>T (p.Glu1066Ter) c.3559G>T (p.Glu1187Ter) c.2860G>T (p.Glu954Ter) c.3607G>T (p.Glu1203Ter) | ClinVar dbSNP |