| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.15587930dup | CA1440706437 | CC2D2A | c.4215+1dup c.4179+1dup c.4032+1dup c.408+1dup c.*1676+1dup c.3855+1dup n.1399+1dup n.4838+1dup c.3677+1dup c.2507+1dup c.3985+1dup c.4197+1dup c.4050+1dup | dbSNP |
| 4 | g.15587930del | CA215089 | CC2D2A | c.4215+1del c.4179+1del c.4032+1del c.408+1del c.*1676+1del c.3855+1del n.1399+1del n.4838+1del c.3677+1del c.2507+1del c.3985+1del c.4197+1del c.4050+1del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |