Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.26912036C>ACA117537NR0B2,NUDCc.583G>T (p.Ala195Ser)
c.93+801C>A (n.93+801C>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.26912036C>GCA339188463NR0B2,NUDCc.583G>C (p.Ala195Pro)
c.93+801C>G (n.93+801C>G)
dbSNP

Number of alleles fetched