| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.88722825G>A | CA16618217 | MEF2C,MEF2C-AS2 | c.823C>T (p.Arg275Cys) c.763C>T (p.Arg255Cys) c.1201C>T (p.Arg401Cys) n.1042C>T c.1105C>T (p.Arg369Cys) c.1168C>T (p.Arg390Cys) c.1231C>T (p.Arg411Cys) c.1171C>T (p.Arg391Cys) c.1128C>T (p.Thr376=) c.1177C>T (p.Arg393Cys) c.1081C>T (p.Arg361Cys) c.1195C>T (p.Arg399Cys) c.961C>T (p.Arg321Cys) c.392C>T (p.Pro131Leu) c.1075C>T (p.Arg359Cys) c.488C>T (p.Pro163Leu) c.1033C>T (p.Arg345Cys) c.1057C>T (p.Arg353Cys) c.1135C>T (p.Arg379Cys) c.1103C>T (p.Pro368Leu) c.1079C>T (p.Pro360Leu) c.1073C>T (p.Pro358Leu) c.959C>T (p.Pro320Leu) c.727C>T (p.Arg243Cys) c.655C>T (p.Arg219Cys) n.457G>A | ClinVar dbSNP |
| 5 | g.88722825G>C | CA360422221 | MEF2C,MEF2C-AS2 | c.823C>G (p.Arg275Gly) c.763C>G (p.Arg255Gly) c.1201C>G (p.Arg401Gly) n.1042C>G c.1105C>G (p.Arg369Gly) c.1168C>G (p.Arg390Gly) c.1231C>G (p.Arg411Gly) c.1171C>G (p.Arg391Gly) c.1128C>G (p.Thr376=) c.1177C>G (p.Arg393Gly) c.1081C>G (p.Arg361Gly) c.1195C>G (p.Arg399Gly) c.961C>G (p.Arg321Gly) c.392C>G (p.Pro131Arg) c.1075C>G (p.Arg359Gly) c.488C>G (p.Pro163Arg) c.1033C>G (p.Arg345Gly) c.1057C>G (p.Arg353Gly) c.1135C>G (p.Arg379Gly) c.1103C>G (p.Pro368Arg) c.1079C>G (p.Pro360Arg) c.1073C>G (p.Pro358Arg) c.959C>G (p.Pro320Arg) c.727C>G (p.Arg243Gly) c.655C>G (p.Arg219Gly) n.457G>C | dbSNP gnomAD v2 gnomAD v4 |