Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.50190333dup | CA915950606 | COL1A1 | c.2450dup (p.Gly818TrpfsTer3) n.377dup c.1532dup (p.Gly512TrpfsTer3) c.2252dup (p.Gly752TrpfsTer3) | ClinVar dbSNP gnomAD v4 |
17 | g.50190333del | CA260296 | COL1A1 | c.2450del (p.Pro817LeufsTer?) n.377del c.1532del (p.Pro511LeufsTer?) c.2252del (p.Pro751LeufsTer?) | ClinVar dbSNP gnomAD v4 |