Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.52906232C>TCA402513863DCCc.601C>T (p.Arg201Ter)
c.402C>T
c.532C>T (p.Arg178Ter)
c.522C>T
n.514C>T
c.522C>T (n.522C>T)
dbSNP
18g.52906232C>ACA503999422DCCc.601C>A (p.Arg201=)
c.402C>A
c.532C>A (p.Arg178=)
c.522C>A
n.514C>A
c.522C>A (n.522C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.52906232C>GCA8966576DCCc.601C>G (p.Arg201Gly)
c.402C>G
c.532C>G (p.Arg178Gly)
c.522C>G
n.514C>G
c.522C>G (n.522C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched