| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50722235C>T | CA16621142 | SHANK3 | c.4003C>T (p.Gln1335Ter) n.4587C>T c.3055C>T (p.Gln1019Ter) c.2545C>T (p.Gln849Ter) c.*3001C>T (n.*3001C>T) c.4399C>T (p.Gln1467Ter) c.4381C>T (p.Gln1461Ter) | ClinVar dbSNP |
| 22 | g.50722235C= | CA2411008696 | SHANK3 | c.4003C= (p.Gln1335=) n.4587C= c.3055C= (p.Gln1019=) c.2545C= (p.Gln849=) c.*3001C= (n.*3001C=) c.4399C= (p.Gln1467=) c.4381C= (p.Gln1461=) | dbSNP |