| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43007960A>C | CA364189066 | MEA1,PPP2R5D | c.752A>C (p.Asp251Ala) n.411A>C c.*433A>C (n.*433A>C) c.656A>C (p.Asp219Ala) c.434A>C (p.Asp145Ala) n.329A>C c.510A>C c.728A>C (p.Asp243Ala) c.299A>C (p.Asp100Ala) c.367+4966T>G (n.367+4966T>G) | ClinVar dbSNP |
| 6 | g.43007960A>T | CA16618288 | MEA1,PPP2R5D | c.752A>T (p.Asp251Val) n.411A>T c.*433A>T (n.*433A>T) c.656A>T (p.Asp219Val) c.434A>T (p.Asp145Val) n.329A>T c.510A>T c.728A>T (p.Asp243Val) c.299A>T (p.Asp100Val) c.367+4966T>A (n.367+4966T>A) | ClinVar dbSNP |