Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.1004393A>TCA353725IDUAc.1962A>T (p.Ter654Cys)
n.2018A>T
c.1566A>T (p.Ter522Cys)
n.2073A>T
n.2054A>T
c.2028A>T (p.Ter676Cys)
c.1821A>T (p.Ter607Cys)
c.1755A>T (p.Ter585Cys)
c.1674A>T (p.Ter558Cys)
n.2222A>T
c.1002A>T (p.Ter334Cys)
ClinVar dbSNP
4g.1004393A>GCA2802487IDUAc.1962A>G (p.Ter654Trp)
n.2018A>G
c.1566A>G (p.Ter522Trp)
n.2073A>G
n.2054A>G
c.2028A>G (p.Ter676Trp)
c.1821A>G (p.Ter607Trp)
c.1755A>G (p.Ter585Trp)
c.1674A>G (p.Ter558Trp)
n.2222A>G
c.1002A>G (p.Ter334Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched