| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.53107116dup | CA117943 | MOCS2 | c.65dup (p.Leu23IlefsTer5) c.252dup (p.Ile85HisfsTer2) n.988dup n.250dup c.237dup (p.Ile80HisfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.53107116del | CA3263754 | MOCS2 | c.65del (p.Pro22HisfsTer2) c.252del (p.Ile85LeufsTer?) n.988del n.250del c.237del (p.Ile80LeufsTer?) c.252del (p.Ile85LeufsTer16) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |