| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.3738617G>C | CA16602827 | CREBBP | c.4336C>G (p.Arg1446Gly) c.4222C>G (p.Arg1408Gly) c.2971C>G (p.Arg991Gly) n.215+1782C>G n.3217+961C>G c.4291C>G (p.Arg1431Gly) c.3919C>G (p.Arg1307Gly) c.4133+1782C>G (n.4133+1782C>G) c.4282C>G (p.Arg1428Gly) c.3583C>G (p.Arg1195Gly) c.4330C>G (p.Arg1444Gly) | ClinVar dbSNP COSMIC |
| 16 | g.3738617G>A | CA222695 | CREBBP | c.4336C>T (p.Arg1446Cys) c.4222C>T (p.Arg1408Cys) c.2971C>T (p.Arg991Cys) n.215+1782C>T n.3217+961C>T c.4291C>T (p.Arg1431Cys) c.3919C>T (p.Arg1307Cys) c.4133+1782C>T (n.4133+1782C>T) c.4282C>T (p.Arg1428Cys) c.3583C>T (p.Arg1195Cys) c.4330C>T (p.Arg1444Cys) | ClinVar dbSNP COSMIC |
| 16 | g.3738617G>T | CA394564431 | CREBBP | c.4336C>A (p.Arg1446Ser) c.4222C>A (p.Arg1408Ser) c.2971C>A (p.Arg991Ser) n.215+1782C>A n.3217+961C>A c.4291C>A (p.Arg1431Ser) c.3919C>A (p.Arg1307Ser) c.4133+1782C>A (n.4133+1782C>A) c.4282C>A (p.Arg1428Ser) c.3583C>A (p.Arg1195Ser) c.4330C>A (p.Arg1444Ser) | dbSNP |
| 16 | g.3738617G= | CA2202938954 | CREBBP | c.4336C= (p.Arg1446=) c.4222C= (p.Arg1408=) c.2971C= (p.Arg991=) n.215+1782C= n.3217+961C= c.4291C= (p.Arg1431=) c.3919C= (p.Arg1307=) c.4133+1782C= (n.4133+1782C=) c.4282C= (p.Arg1428=) c.3583C= (p.Arg1195=) c.4330C= (p.Arg1444=) | dbSNP |