Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.28405927dupCA345075SLC46A1c.194dup (p.Cys66LeufsTer?)
c.-29dup (n.-29dup)
n.248dup
c.-36-453dup (n.-36-453dup)
n.89+476dup
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.28405927delCA026500SLC46A1c.194del (p.Gly65AlafsTer25)
c.-29del (n.-29del)
n.248del
c.-36-453del (n.-36-453del)
n.89+476del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched