| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.29675423_29675426del | CA565877774 | ZFP57 | c.315_318del (p.Arg105SerfsTer26) c.99_102del (p.Arg33SerfsTer26) c.231_233+1del c.255_258del (p.Arg85SerfsTer26) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.29675425_29675426del | CA251579 | ZFP57 | c.317_318del (p.Glu106ValfsTer28) c.101_102del (p.Glu34ValfsTer28) c.233_233+1del c.257_258del (p.Glu86ValfsTer28) | ClinVar dbSNP gnomAD v4 |