Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.135446760T>GCA446784847DCANP1,TIFABc.*2694A>C (n.*2694A>C)
c.349A>C (p.Arg117=)
dbSNP
5g.135446760T>ACA3418263DCANP1,TIFABc.*2694A>T (n.*2694A>T)
c.349A>T (p.Arg117Ter)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.135446760T>CCA361020703DCANP1,TIFABc.*2694A>G (n.*2694A>G)
c.349A>G (p.Arg117Gly)
dbSNP

Number of alleles fetched