| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.41534946T>C | CA128780 | CASK | c.2132A>G (p.Tyr711Cys) c.2129A>G (p.Tyr710Cys) c.2183A>G (p.Tyr728Cys) c.2081A>G (p.Tyr694Cys) c.2186A>G (p.Tyr729Cys) c.803A>G (p.Tyr268Cys) c.2114A>G (p.Tyr705Cys) c.2045A>G (p.Tyr682Cys) n.962A>G c.2165A>G (p.Tyr722Cys) c.2096A>G (p.Tyr699Cys) c.2168A>G (p.Tyr723Cys) n.2414A>G c.2150A>G (p.Tyr717Cys) c.1505A>G (p.Tyr502Cys) c.2099A>G (p.Tyr700Cys) c.2117A>G (p.Tyr706Cys) c.548A>G (p.Tyr183Cys) c.959A>G (p.Tyr320Cys) c.2060A>G (p.Tyr687Cys) c.2147A>G (p.Tyr716Cys) c.2078A>G (p.Tyr693Cys) c.1610A>G (p.Tyr537Cys) | ClinVar dbSNP |
| X | g.41534946T= | CA2425948884 | CASK | c.2132A= (p.Tyr711=) c.2129A= (p.Tyr710=) c.2183A= (p.Tyr728=) c.2081A= (p.Tyr694=) c.2186A= (p.Tyr729=) c.803A= (p.Tyr268=) c.2114A= (p.Tyr705=) c.2045A= (p.Tyr682=) n.962A= c.2165A= (p.Tyr722=) c.2096A= (p.Tyr699=) c.2168A= (p.Tyr723=) n.2414A= c.2150A= (p.Tyr717=) c.1505A= (p.Tyr502=) c.2099A= (p.Tyr700=) c.2117A= (p.Tyr706=) c.548A= (p.Tyr183=) c.959A= (p.Tyr320=) c.2060A= (p.Tyr687=) c.2147A= (p.Tyr716=) c.2078A= (p.Tyr693=) c.1610A= (p.Tyr537=) | dbSNP |