Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.36072675C>ACA512322367CBR1,CBR1-AS1,SETD4c.627C>A (p.Ala209=)
c.-203+6630G>T (n.-203+6630G>T)
c.*736C>A (n.*736C>A)
n.378-2190G>T
 dbSNP
21g.36072675C>TCA10015529CBR1,CBR1-AS1,SETD4c.627C>T (p.Ala209=)
c.-203+6630G>A (n.-203+6630G>A)
c.*736C>T (n.*736C>T)
n.378-2190G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.36072675C=CA2387836146CBR1,CBR1-AS1,SETD4c.627C= (p.Ala209=)
c.-203+6630G= (n.-203+6630G=)
c.*736C= (n.*736C=)
n.378-2190G=
 dbSNP
21g.36072675C>GCA512322366CBR1,CBR1-AS1,SETD4c.627C>G (p.Ala209=)
c.-203+6630G>C (n.-203+6630G>C)
c.*736C>G (n.*736C>G)
n.378-2190G>C
 dbSNP gnomAD v4

Number of alleles fetched