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Pathogenic POLE EDM based on POLE‐score
| Protein change | Nucleotide substitution |
|---|---|
| P286R | c.857C>G |
| V411L | c.1231G>T/C |
| S297F | c.890C>T |
| S459F | c.1376C>T |
| A456P | c.1366G>C |
| F367S | c.1100T>C |
| L424I | c.1270C>A |
| M295R | c.884T>G |
| P436R | c.1307C>G |
| M444K | c.1331T>A |
| D368Y | c.1102G>T |
