Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.48965344C>ACA126556FTLc.-164C>A (n.-164C>A)
c.347C>A (p.Ser116Ter)
ClinVar dbSNP gnomAD v4
19g.48965344C>TCA149685FTLc.-164C>T (n.-164C>T)
c.347C>T (p.Ser116Leu)
ClinVar dbSNP gnomAD v4

Number of alleles fetched