Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.109581440delCA481713633MVKc.-92+7567del (n.-92+7567del)
c.417del (p.Ala141ArgfsTer18)
n.79-4582del
c.*181del (n.*181del)
c.65-4582del
c.265del
c.371+1494del (n.371+1494del)
c.227-4582del (n.227-4582del)
n.472-4582del
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.109581440dupCA130492MVKc.-92+7567dup (n.-92+7567dup)
c.417dup (p.Gly140ArgfsTer?)
n.79-4582dup
c.*181dup (n.*181dup)
c.65-4582dup
c.265dup
c.371+1494dup (n.371+1494dup)
c.227-4582dup (n.227-4582dup)
n.472-4582dup
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched