| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3740399C>T | CA394565195 | CREBBP | c.4133G>A (p.Arg1378Gln) c.4019G>A (p.Arg1340Gln) c.2768G>A (p.Arg923Gln) c.439G>A n.215G>A n.3070G>A c.4088G>A (p.Arg1363Gln) c.3716G>A (p.Arg1239Gln) c.4079G>A (p.Arg1360Gln) c.3380G>A (p.Arg1127Gln) c.4127G>A (p.Arg1376Gln) | ClinVar dbSNP gnomAD v4 |
| 16 | g.3740399C>A | CA394565194 | CREBBP | c.4133G>T (p.Arg1378Leu) c.4019G>T (p.Arg1340Leu) c.2768G>T (p.Arg923Leu) c.439G>T n.215G>T n.3070G>T c.4088G>T (p.Arg1363Leu) c.3716G>T (p.Arg1239Leu) c.4079G>T (p.Arg1360Leu) c.3380G>T (p.Arg1127Leu) c.4127G>T (p.Arg1376Leu) | dbSNP |
| 16 | g.3740399C>G | CA254813 | CREBBP | c.4133G>C (p.Arg1378Pro) c.4019G>C (p.Arg1340Pro) c.2768G>C (p.Arg923Pro) c.439G>C n.215G>C n.3070G>C c.4088G>C (p.Arg1363Pro) c.3716G>C (p.Arg1239Pro) c.4079G>C (p.Arg1360Pro) c.3380G>C (p.Arg1127Pro) c.4127G>C (p.Arg1376Pro) | ClinVar dbSNP gnomAD v4 |