Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50627048G>ACA219030ARSAc.470C>T (p.Pro157Leu)
c.212C>T (p.Pro71Leu)
n.974C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50627048G>CCA115979ARSAc.470C>G (p.Pro157Arg)
c.212C>G (p.Pro71Arg)
n.974C>G
 ClinVar dbSNP

Number of alleles fetched