Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.114693436G>TCA29032115AMPD1c.133C>A (p.Gln45Lys)
c.121+2014C>A (p.=)
dbSNP
1g.114693436G>ACA128022AMPD1c.133C>T (p.Gln45Ter)
c.121+2014C>T (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched