Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.39872381G>TCA8535970ZPBP2c.518G>T (p.Ser173Ile)
c.452G>T (p.Ser151Ile)
c.164G>T (p.Ser55Ile)
c.407-663G>T (n.407-663G>T)
n.709G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.39872381G=CA2259290883ZPBP2c.518G= (p.Ser173=)
c.452G= (p.Ser151=)
c.164G= (p.Ser55=)
c.407-663G= (n.407-663G=)
n.709G=
dbSNP dbSNP

Number of alleles fetched