Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.210573301C>TCA115527CPS1c.130C>T (p.Gln44Ter)
c.148C>T (p.Gln50Ter)
c.163C>T (p.Gln55Ter)
n.1042C>T
 ClinVar dbSNP gnomAD v4
2g.210573301C=CA1325064688CPS1c.130C= (p.Gln44=)
c.148C= (p.Gln50=)
c.163C= (p.Gln55=)
n.1042C=
 dbSNP

Number of alleles fetched