Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.69165386C>TCA116052UTP4c.1693C>T (p.Arg565Trp)
c.1444C>T (p.Arg482Trp)
c.1276C>T (p.Arg426Trp)
n.1690C>T
c.1348C>T (p.Arg450Trp)
n.1735C>T (p.Arg579Trp)
n.519+2208C>T (p.=)
ClinVar dbSNP ExAC gnomAD
16g.69165386C>ACA8132525UTP4c.1693C>A (p.Arg565=)
c.1444C>A (p.Arg482=)
c.1276C>A (p.Arg426=)
n.1690C>A
c.1348C>A (p.Arg450=)
n.1735C>A (p.Arg579=)
n.519+2208C>A (p.=)
dbSNP ExAC gnomAD

Number of alleles fetched