| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50697585dup | CA16621796 | SHANK3 | c.969dup (p.Ala324ArgfsTer?) n.1553dup c.21dup (p.Ala8ArgfsTer?) c.1326dup (p.Ala443ArgfsTer?) c.22dup c.1365dup (p.Ala456ArgfsTer?) c.1347dup (p.Ala450ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.50697585del | CA2577768310 | SHANK3 | c.969del (p.Ala324HisfsTer23) n.1553del c.21del (p.Ala8HisfsTer23) c.1326del (p.Ala443HisfsTer23) c.22del c.1365del (p.Ala456HisfsTer23) c.1347del (p.Ala450HisfsTer23) | dbSNP gnomAD v4 |
| 22 | g.50697584_50697585del | CA2657598573 | SHANK3 | c.968_969del (p.Pro323ArgfsTer?) n.1552_1553del c.20_21del (p.Pro7ArgfsTer?) c.1325_1326del (p.Pro442ArgfsTer?) c.21_22del c.1364_1365del (p.Pro455ArgfsTer?) c.1346_1347del (p.Pro449ArgfsTer?) | dbSNP gnomAD v4 |