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ATM PVs/LPVs identified in our cohort.
| Chr | Position | Ref | Alt | HGVS | Mutation type | Pathogenicity | # of cases | dbSNP ID |
|---|---|---|---|---|---|---|---|---|
| chr11 | 108098502 | G | T | c.73-1G > T | Splicing | Likely pathogenic | 1 | rs1555054043 |
| chr11 | 108106446 | A | – | c.381delA:p.Thr127fs | Frameshift | Pathogenic | 1 | rs587781831 |
| chr11 | 108186757 | G | A | c.6115G > A:p.Glu2039Lys | Missense | Likely pathogenic | 3 | rs864622251 |
| chr11 | 108206571 | G | A | c.8152-1G > A | Splicing | Pathogenic | 1 | rs1398616877 |
