| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50698797C>G | CA515255587 | SHANK3 | c.1207C>G (p.Arg403Gly) n.1791C>G c.259C>G (p.Arg87Gly) c.1564C>G (p.Arg522Gly) n.232C>G c.459C>G n.452C>G n.799C>G c.1603C>G (p.Arg535Gly) c.1585C>G (p.Arg529Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50698797C>T | CA129334 | SHANK3 | c.1207C>T (p.Arg403Trp) n.1791C>T c.259C>T (p.Arg87Trp) c.1564C>T (p.Arg522Trp) n.232C>T c.459C>T n.452C>T n.799C>T c.1603C>T (p.Arg535Trp) c.1585C>T (p.Arg529Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50698797C>A | CA515255586 | SHANK3 | c.1207C>A (p.Arg403=) n.1791C>A c.259C>A (p.Arg87=) c.1564C>A (p.Arg522=) n.232C>A c.459C>A n.452C>A n.799C>A c.1603C>A (p.Arg535=) c.1585C>A (p.Arg529=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |