| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50720446C>A | CA515259290 | SHANK3 | c.2214C>A (p.Tyr738Ter) n.2798C>A c.1266C>A (p.Tyr422Ter) c.756C>A (p.Tyr252Ter) c.*1212C>A (n.*1212C>A) c.2610C>A (p.Tyr870Ter) c.2592C>A (p.Tyr864Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720446C>G | CA16043165 | SHANK3 | c.2214C>G (p.Tyr738Ter) n.2798C>G c.1266C>G (p.Tyr422Ter) c.756C>G (p.Tyr252Ter) c.*1212C>G (n.*1212C>G) c.2610C>G (p.Tyr870Ter) c.2592C>G (p.Tyr864Ter) | ClinVar dbSNP gnomAD v4 |
| 22 | g.50720446C>T | CA325578103 | SHANK3 | c.2214C>T (p.Tyr738=) n.2798C>T c.1266C>T (p.Tyr422=) c.756C>T (p.Tyr252=) c.*1212C>T (n.*1212C>T) c.2610C>T (p.Tyr870=) c.2592C>T (p.Tyr864=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |