Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.134486471C>TCA254997HPRT1c.325C>T (p.Gln109Ter)
n.483C>T
n.283C>T
c.343C>T (p.Gln115Ter)
ClinVar dbSNP gnomAD v4
Xg.134486471C>ACA10521368HPRT1c.325C>A (p.Gln109Lys)
n.483C>A
n.283C>A
c.343C>A (p.Gln115Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched