Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.17877840C>ACA118964SLC5A5c.816C>A (p.Cys272Ter)
c.549C>A (p.Cys183Ter)
c.450C>A (p.Cys150Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.17877840C=CA2326075498SLC5A5c.816C= (p.Cys272=)
c.549C= (p.Cys183=)
c.450C= (p.Cys150=)
 dbSNP

Number of alleles fetched