Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.41758753G>ACA207164JUPc.1615C>T (p.Gln539Ter)
n.213C>T
c.1666C>T (p.Gln556Ter)
 ClinVar dbSNP gnomAD v2
17g.41758753G=CA2260170945JUPc.1615C= (p.Gln539=)
n.213C=
c.1666C= (p.Gln556=)
 dbSNP

Number of alleles fetched