| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.153816510del | CA209223 | GATAD2B | c.558del (p.Thr187ArgfsTer2) c.981del (p.Thr328ArgfsTer2) c.933del (p.Thr312ArgfsTer2) c.235del | ClinVar dbSNP |
| 1 | g.153816509_153816510del | CA2573051372 | GATAD2B | c.557_558del (p.Gly186AspfsTer11) c.980_981del (p.Gly327AspfsTer11) c.932_933del (p.Gly311AspfsTer11) c.234_235del | ClinVar dbSNP |