| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3757288C>T | CA16043514 | CREBBP | c.3698G>A (p.Arg1233Lys) c.3584G>A (p.Arg1195Lys) c.2303G>A (p.Ser768Asn) c.4G>A c.3653G>A (p.Arg1218Lys) c.3281G>A (p.Arg1094Lys) c.3644G>A (p.Arg1215Lys) c.2945G>A (p.Arg982Lys) c.3692G>A (p.Arg1231Lys) | ClinVar dbSNP |
| 16 | g.3757288C>A | CA394568280 | CREBBP | c.3698G>T (p.Arg1233Met) c.3584G>T (p.Arg1195Met) c.2303G>T (p.Ser768Ile) c.4G>T c.3653G>T (p.Arg1218Met) c.3281G>T (p.Arg1094Met) c.3644G>T (p.Arg1215Met) c.2945G>T (p.Arg982Met) c.3692G>T (p.Arg1231Met) | dbSNP |
| 16 | g.3757288C= | CA2202942510 | CREBBP | c.3698G= (p.Arg1233=) c.3584G= (p.Arg1195=) c.2303G= (p.Ser768=) c.4G= c.3653G= (p.Arg1218=) c.3281G= (p.Arg1094=) c.3644G= (p.Arg1215=) c.2945G= (p.Arg982=) c.3692G= (p.Arg1231=) | dbSNP |