| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50684651G>T | CA16044390 | SHANK3 | c.673G>T (p.Val225Leu) n.1257G>T c.1030G>T (p.Val344Leu) n.993G>T c.1255G>T (p.Val419Leu) | ClinVar dbSNP |
| 22 | g.50684651G= | CA2410989299 | SHANK3 | c.673G= (p.Val225=) n.1257G= c.1030G= (p.Val344=) n.993G= c.1255G= (p.Val419=) | dbSNP |