| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50730977A>T | CA515267055 | SHANK3 | c.4489A>T (p.Lys1497Ter) n.5073A>T c.3541A>T (p.Lys1181Ter) c.3031A>T (p.Lys1011Ter) c.*3487A>T (n.*3487A>T) c.304A>T (p.Lys102Ter) c.4858A>T (p.Lys1620Ter) c.4840A>T (p.Lys1614Ter) | ClinVar dbSNP |
| 22 | g.50730977A>G | CA515267054 | SHANK3 | c.4489A>G (p.Lys1497Glu) n.5073A>G c.3541A>G (p.Lys1181Glu) c.3031A>G (p.Lys1011Glu) c.*3487A>G (n.*3487A>G) c.304A>G (p.Lys102Glu) c.4858A>G (p.Lys1620Glu) c.4840A>G (p.Lys1614Glu) | dbSNP gnomAD v4 |
| 22 | g.50730977A= | CA2411013124 | SHANK3 | c.4489A= (p.Lys1497=) n.5073A= c.3541A= (p.Lys1181=) c.3031A= (p.Lys1011=) c.*3487A= (n.*3487A=) c.304A= (p.Lys102=) c.4858A= (p.Lys1620=) c.4840A= (p.Lys1614=) | dbSNP |