Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.230703316delCA127789AGTc.1263del (p.Phe421LeufsTer25)
c.*722del (n.*722del)
n.5568del
c.1254del (p.Phe418LeufsTer25)
c.829+6686del (n.829+6686del)
n.3369del
c.*757del (n.*757del)
c.1290del (p.Phe430LeufsTer25)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.230703316dupCA1448057AGTc.1263dup (p.Glu422Ter)
c.*722dup (n.*722dup)
n.5568dup
c.1254dup (p.Glu419Ter)
c.829+6686dup (n.829+6686dup)
n.3369dup
c.*757dup (n.*757dup)
c.1290dup (p.Glu431Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched