Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.50190333dupCA915950606COL1A1c.2450dup (p.Gly818TrpfsTer3)
n.377dup
c.1532dup (p.Gly512TrpfsTer3)
c.2252dup (p.Gly752TrpfsTer3)
ClinVar dbSNP gnomAD v4
17g.50190333delCA260296COL1A1c.2450del (p.Pro817LeufsTer?)
n.377del
c.1532del (p.Pro511LeufsTer?)
c.2252del (p.Pro751LeufsTer?)
ClinVar dbSNP gnomAD v4

Number of alleles fetched