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Mutations identified in exon 34 of NOTCH2 in patients with HCS
| Individual | Mutation | Protein |
|---|---|---|
| HCS01/12/21/22 | c.6450delT | Val2151LeufsX4 |
| HCS02/12/21 | c.6383delG | Gly2128ValfsX8 |
| HCS03 | c.6586C>T | Gln2196X |
| HCS04 | c.6578-6588delTCCATGCCCAG | Val2193AlafsX7 |
| HCS05 | c.6662-6663delTG | Val2221GlufsX22 |
| HCS06 | c.7198C>T | Arg2400X |
