Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.52923832C>TCA347159DCCc.823C>T (p.Arg275Ter)
c.624C>T
c.754C>T (p.Arg252Ter)
n.34C>T
n.49C>T
ClinVar dbSNP gnomAD v4
18g.52923832C>ACA8966645DCCc.823C>A (p.Arg275=)
c.624C>A
c.754C>A (p.Arg252=)
n.34C>A
n.49C>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC

Number of alleles fetched