Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.36071051C>TCA10015393CBR1,CBR1-AS1,SETD4c.391C>T (p.Pro131Ser)
c.-203+8254G>A (n.-203+8254G>A)
n.566C>T
n.378-566G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.36071051C=CA2387835435CBR1,CBR1-AS1,SETD4c.391C= (p.Pro131=)
c.-203+8254G= (n.-203+8254G=)
n.566C=
n.378-566G=
dbSNP
21g.36071051C>ACA409886666CBR1,CBR1-AS1,SETD4c.391C>A (p.Pro131Thr)
c.-203+8254G>T (n.-203+8254G>T)
n.566C>A
n.378-566G>T
dbSNP gnomAD v4

Number of alleles fetched