Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.40089495G>TCA417322676PPT1c.*287C>A (n.*287C>A)
c.448C>A (p.Arg150=)
c.451C>A (p.Arg151=)
c.142C>A (p.Arg48=)
c.731C>A
c.305+1834C>A (n.305+1834C>A)
c.*74C>A (n.*74C>A)
c.429C>A
n.688C>A
c.63C>A
c.538C>A (p.Arg180=)
c.*303C>A (n.*303C>A)
c.124+7620C>A (n.124+7620C>A)
c.136C>A (p.Arg46=)
c.226C>A (p.Arg76=)
dbSNP
1g.40089495G>ACA316936PPT1c.*287C>T (n.*287C>T)
c.448C>T (p.Arg150Ter)
c.451C>T (p.Arg151Ter)
c.142C>T (p.Arg48Ter)
c.731C>T
c.305+1834C>T (n.305+1834C>T)
c.*74C>T (n.*74C>T)
c.429C>T
n.688C>T
c.63C>T
c.538C>T (p.Arg180Ter)
c.*303C>T (n.*303C>T)
c.124+7620C>T (n.124+7620C>T)
c.136C>T (p.Arg46Ter)
c.226C>T (p.Arg76Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.40089495G>CCA789686PPT1c.*287C>G (n.*287C>G)
c.448C>G (p.Arg150Gly)
c.451C>G (p.Arg151Gly)
c.142C>G (p.Arg48Gly)
c.731C>G
c.305+1834C>G (n.305+1834C>G)
c.*74C>G (n.*74C>G)
c.429C>G
n.688C>G
c.63C>G
c.538C>G (p.Arg180Gly)
c.*303C>G (n.*303C>G)
c.124+7620C>G (n.124+7620C>G)
c.136C>G (p.Arg46Gly)
c.226C>G (p.Arg76Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched