| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3770722T>C | CA171789 | CREBBP | c.2728A>G (p.Thr910Ala) c.2614A>G (p.Thr872Ala) c.1333A>G (p.Thr445Ala) c.2683A>G (p.Thr895Ala) c.2464-1369A>G (n.2464-1369A>G) c.2674A>G (p.Thr892Ala) c.1975A>G (p.Thr659Ala) c.2722A>G (p.Thr908Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3770722T>A | CA158166 | CREBBP | c.2728A>T (p.Thr910Ser) c.2614A>T (p.Thr872Ser) c.1333A>T (p.Thr445Ser) c.2683A>T (p.Thr895Ser) c.2464-1369A>T (n.2464-1369A>T) c.2674A>T (p.Thr892Ser) c.1975A>T (p.Thr659Ser) c.2722A>T (p.Thr908Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.3770722T>G | CA394551019 | CREBBP | c.2728A>C (p.Thr910Pro) c.2614A>C (p.Thr872Pro) c.1333A>C (p.Thr445Pro) c.2683A>C (p.Thr895Pro) c.2464-1369A>C (n.2464-1369A>C) c.2674A>C (p.Thr892Pro) c.1975A>C (p.Thr659Pro) c.2722A>C (p.Thr908Pro) | dbSNP |