Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50626709G>CCA412176483ARSAc.736C>G (p.Arg246Gly)
c.478C>G (p.Arg160Gly)
n.1313C>G
dbSNP gnomAD v3 gnomAD v4
22g.50626709G>ACA278034ARSAc.736C>T (p.Arg246Cys)
c.478C>T (p.Arg160Cys)
n.1313C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched