| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50720865G>T | CA10325945 | SHANK3 | c.2633G>T (p.Gly878Val) n.3217G>T c.1685G>T (p.Gly562Val) c.1175G>T (p.Gly392Val) c.*1631G>T (n.*1631G>T) c.3029G>T (p.Gly1010Val) c.3011G>T (p.Gly1004Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50720865G>C | CA515260516 | SHANK3 | c.2633G>C (p.Gly878Ala) n.3217G>C c.1685G>C (p.Gly562Ala) c.1175G>C (p.Gly392Ala) c.*1631G>C (n.*1631G>C) c.3029G>C (p.Gly1010Ala) c.3011G>C (p.Gly1004Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50720865G>A | CA515260515 | SHANK3 | c.2633G>A (p.Gly878Asp) n.3217G>A c.1685G>A (p.Gly562Asp) c.1175G>A (p.Gly392Asp) c.*1631G>A (n.*1631G>A) c.3029G>A (p.Gly1010Asp) c.3011G>A (p.Gly1004Asp) | dbSNP gnomAD v4 |
| 22 | g.50720865G= | CA2411007874 | SHANK3 | c.2633G= (p.Gly878=) n.3217G= c.1685G= (p.Gly562=) c.1175G= (p.Gly392=) c.*1631G= (n.*1631G=) c.3029G= (p.Gly1010=) c.3011G= (p.Gly1004=) | dbSNP |