Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.53207745C>GCA402518193DCCc.1789C>G (p.Arg597Gly)
c.1590C>G
c.1720C>G (p.Arg574Gly)
c.754C>G (p.Arg252Gly)
dbSNP
18g.53207745C>TCA402518194DCCc.1789C>T (p.Arg597Ter)
c.1590C>T
c.1720C>T (p.Arg574Ter)
c.754C>T (p.Arg252Ter)
ClinVar dbSNP COSMIC COSMIC
18g.53207745C=CA2304037519DCCc.1789C= (p.Arg597=)
c.1590C=
c.1720C= (p.Arg574=)
c.754C= (p.Arg252=)
dbSNP
18g.53207745C>ACA503971876DCCc.1789C>A (p.Arg597=)
c.1590C>A
c.1720C>A (p.Arg574=)
c.754C>A (p.Arg252=)
dbSNP gnomAD v4

Number of alleles fetched