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Summary of SNVs identified in Exon 3, Intron 2, and Intron 3 of the PROCR
| SNV | Location | Consequence | # in patients | # in controls |
|---|---|---|---|---|
| C 6367 T | Exon 3 | Arg96Cys | 1 | 0 |
| G 6589 C | Exon 3 | Val170Leu | 1 | 0 |
| C 6519 T | Exon 3 | Silent (Phe to Phe) | 1 | 0 |
| G 5212 A | Intron 2 | 2 | 0 | |
| G 5195 A | Intron 2 | 1 | 0 | |
| C 5334 A | Intron 2 | 2 | 0 | |
| A6668T | Intron 3 | 7 | 2 | |
| G deletion @6738 | Intron 3 | 1 | 1 |
