| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.50894041G>A | CA16043635 | ADNP | c.673C>T (p.Arg225Ter) c.202-4084C>T (n.202-4084C>T) c.-12C>T (n.-12C>T) c.889C>T (p.Arg297Ter) c.700C>T (p.Arg234Ter) | ClinVar dbSNP COSMIC |
| 20 | g.50894041G= | CA2368739010 | ADNP | c.673C= (p.Arg225=) c.202-4084C= (n.202-4084C=) c.-12C= (n.-12C=) c.889C= (p.Arg297=) c.700C= (p.Arg234=) | dbSNP |