Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.18783128C>TCA9316159COMPc.2153G>A (p.Arg718Gln)
c.1994G>A (p.Arg665Gln)
c.2054G>A (p.Arg685Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.18783128C>GCA344892COMPc.2153G>C (p.Arg718Pro)
c.1994G>C (p.Arg665Pro)
c.2054G>C (p.Arg685Pro)
ClinVar dbSNP

Number of alleles fetched