Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.9893122C>TCA432531782JAGN1c.*250C>T (n.*250C>T)
c.297C>T (p.Tyr99=)
c.135C>T (p.Tyr45=)
 dbSNP gnomAD v4
3g.9893122C>GCA199737JAGN1c.*250C>G (n.*250C>G)
c.297C>G (p.Tyr99Ter)
c.135C>G (p.Tyr45Ter)
 ClinVar dbSNP

Number of alleles fetched