| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50721182C>T | CA129332 | SHANK3 | c.2950C>T (p.Arg984Ter) n.3534C>T c.2002C>T (p.Arg668Ter) c.1492C>T (p.Arg498Ter) c.*1948C>T (n.*1948C>T) c.3346C>T (p.Arg1116Ter) c.3328C>T (p.Arg1110Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 22 | g.50721182C>A | CA515261383 | SHANK3 | c.2950C>A (p.Arg984=) n.3534C>A c.2002C>A (p.Arg668=) c.1492C>A (p.Arg498=) c.*1948C>A (n.*1948C>A) c.3346C>A (p.Arg1116=) c.3328C>A (p.Arg1110=) | dbSNP gnomAD v4 |
| 22 | g.50721182C= | CA2411008078 | SHANK3 | c.2950C= (p.Arg984=) n.3534C= c.2002C= (p.Arg668=) c.1492C= (p.Arg498=) c.*1948C= (n.*1948C=) c.3346C= (p.Arg1116=) c.3328C= (p.Arg1110=) | dbSNP |
| 22 | g.50721182C>G | CA515261384 | SHANK3 | c.2950C>G (p.Arg984Gly) n.3534C>G c.2002C>G (p.Arg668Gly) c.1492C>G (p.Arg498Gly) c.*1948C>G (n.*1948C>G) c.3346C>G (p.Arg1116Gly) c.3328C>G (p.Arg1110Gly) | dbSNP gnomAD v4 |