| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3729685C>T | CA16620200 | CREBBP | c.5362G>A (p.Ala1788Thr) c.5248G>A (p.Ala1750Thr) c.5317G>A (p.Ala1773Thr) c.4945G>A (p.Ala1649Thr) c.5101G>A (p.Ala1701Thr) c.5308G>A (p.Ala1770Thr) c.4609G>A (p.Ala1537Thr) c.5356G>A (p.Ala1786Thr) | ClinVar dbSNP |
| 16 | g.3729685C>A | CA394557050 | CREBBP | c.5362G>T (p.Ala1788Ser) c.5248G>T (p.Ala1750Ser) c.5317G>T (p.Ala1773Ser) c.4945G>T (p.Ala1649Ser) c.5101G>T (p.Ala1701Ser) c.5308G>T (p.Ala1770Ser) c.4609G>T (p.Ala1537Ser) c.5356G>T (p.Ala1786Ser) | dbSNP |
| 16 | g.3729685C>G | CA394557051 | CREBBP | c.5362G>C (p.Ala1788Pro) c.5248G>C (p.Ala1750Pro) c.5317G>C (p.Ala1773Pro) c.4945G>C (p.Ala1649Pro) c.5101G>C (p.Ala1701Pro) c.5308G>C (p.Ala1770Pro) c.4609G>C (p.Ala1537Pro) c.5356G>C (p.Ala1786Pro) | dbSNP |
| 16 | g.3729685C= | CA2202916488 | CREBBP | c.5362G= (p.Ala1788=) c.5248G= (p.Ala1750=) c.5317G= (p.Ala1773=) c.4945G= (p.Ala1649=) c.5101G= (p.Ala1701=) c.5308G= (p.Ala1770=) c.4609G= (p.Ala1537=) c.5356G= (p.Ala1786=) | dbSNP |