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AOH regions surrounding the CARMIL2 variant in the three affected families. The regions are shown by genomic coordinate and size of the AOH (Mb)
| Patient | Genomic coordinates (hg19) for AOH region (chr16) | AOH region size (Mb) |
|---|---|---|
| 1 | (67180171_67292201)_(72993860_74485788) | 5.7–7.3 |
| 2 | (60393236_61686848)_(72993860_74485788) | 11.3–14.1 |
| 3 and 4 | (60393236_61686848)_(74501856_74504005) | 12.8–14.1 |
