Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.53207746G>CCA16044032DCCc.1790G>C (p.Arg597Pro)
c.1591G>C
c.1721G>C (p.Arg574Pro)
c.755G>C (p.Arg252Pro)
ClinVar dbSNP
18g.53207746G>ACA402518196DCCc.1790G>A (p.Arg597Gln)
c.1591G>A
c.1721G>A (p.Arg574Gln)
c.755G>A (p.Arg252Gln)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.53207746G=CA2304037522DCCc.1790G= (p.Arg597=)
c.1591G=
c.1721G= (p.Arg574=)
c.755G= (p.Arg252=)
dbSNP
18g.53207746G>TCA402518195DCCc.1790G>T (p.Arg597Leu)
c.1591G>T
c.1721G>T (p.Arg574Leu)
c.755G>T (p.Arg252Leu)
dbSNP gnomAD v4

Number of alleles fetched