| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50678666C>G | CA263235 | SHANK3 | c.64C>G (p.Pro22Ala) n.648C>G c.421C>G (p.Pro141Ala) n.384C>G c.646C>G (p.Pro216Ala) | ClinVar dbSNP |
| 22 | g.50678666C= | CA2410985259 | SHANK3 | c.64C= (p.Pro22=) n.648C= c.421C= (p.Pro141=) n.384C= c.646C= (p.Pro216=) | dbSNP |