Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.3773912G>C | CA394553116 | CREBBP | c.2302C>G (p.Arg768Gly) c.2188C>G (p.Arg730Gly) c.907C>G (p.Arg303Gly) c.351C>G c.570C>G n.197C>G c.2257C>G (p.Arg753Gly) c.2248C>G (p.Arg750Gly) c.1549C>G (p.Arg517Gly) | dbSNP |
16 | g.3773912G>A | CA16608189 | CREBBP | c.2302C>T (p.Arg768Ter) c.2188C>T (p.Arg730Ter) c.907C>T (p.Arg303Ter) c.351C>T c.570C>T n.197C>T c.2257C>T (p.Arg753Ter) c.2248C>T (p.Arg750Ter) c.1549C>T (p.Arg517Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.3773912G>T | CA493274521 | CREBBP | c.2302C>A (p.Arg768=) c.2188C>A (p.Arg730=) c.907C>A (p.Arg303=) c.351C>A c.570C>A n.197C>A c.2257C>A (p.Arg753=) c.2248C>A (p.Arg750=) c.1549C>A (p.Arg517=) | dbSNP |