Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.131579252del | CA570508538 | ARG1,MED23 | c.272del (p.Gly91GlufsTer?) n.519del c.218del (p.Gly73GlufsTer?) c.*159del (n.*159del) c.272del (p.Gly91GlufsTer15) n.256del c.4096-4956del (n.4096-4956del) c.296del (p.Gly99GlufsTer?) n.288del n.244del n.313del c.4078-4956del (n.4078-4956del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.131579252dup | CA312311 | ARG1,MED23 | c.272dup (p.Arg92LysfsTer26) n.519dup c.218dup (p.Arg74LysfsTer26) c.*159dup (n.*159dup) c.272dup (p.Arg92LysfsTer20) n.256dup c.4096-4956dup (n.4096-4956dup) c.296dup (p.Arg100LysfsTer26) n.288dup n.244dup n.313dup c.4078-4956dup (n.4078-4956dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |