Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.114693436G>TCA29032115AMPD1c.22+2014C>A (n.22+2014C>A)
c.34C>A (p.Gln12Lys)
c.37+2001C>A (n.37+2001C>A)
c.121+2014C>A (n.121+2014C>A)
c.133C>A (p.Gln45Lys)
dbSNP gnomAD v4
1g.114693436G>ACA128022AMPD1c.22+2014C>T (n.22+2014C>T)
c.34C>T (p.Gln12Ter)
c.37+2001C>T (n.37+2001C>T)
c.121+2014C>T (n.121+2014C>T)
c.133C>T (p.Gln45Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched