| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.28725243_28725244del | CA1139666374 | CHEK2 | c.444_444+1del c.*424_*424+1del c.-220_-220+1del c.-71-5758_-71-5757del (n.-71-5758_-71-5757del) c.573_573+1del c.474_474+1del c.320-5758_320-5757del (n.320-5758_320-5757del) c.537_537+1del c.6_6+1del c.562_562+1del c.-334_-334+1del c.603_603+1del n.665_665+1del n.660_660+1del c.567_567+1del n.676_676+1del | ClinVar dbSNP |
| 22 | g.28725244del | CA16621081 | CHEK2 | c.444+1del c.*424+1del c.-220+1del c.-71-5757del (n.-71-5757del) c.573+1del c.474+1del c.320-5757del (n.320-5757del) c.537+1del c.6+1del c.562+1del c.-334+1del c.603+1del n.665+1del n.660+1del c.567+1del n.676+1del | ClinVar dbSNP gnomAD v4 |