Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.135446760T>G | CA446784847 | DCANP1,TIFAB | c.*2694A>C (n.*2694A>C) c.349A>C (p.Arg117=) | dbSNP |
5 | g.135446760T>A | CA3418263 | DCANP1,TIFAB | c.*2694A>T (n.*2694A>T) c.349A>T (p.Arg117Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135446760T>C | CA361020703 | DCANP1,TIFAB | c.*2694A>G (n.*2694A>G) c.349A>G (p.Arg117Gly) | dbSNP |