| Cell line | Protein change | cDNA change |
| NPC17 | I1061T, 10bp deletion in exon 19 at codon 962 = fs(exon19) | c.3182T > C, c.2884–93delATCACTGACC |
| NPC22 | R978C, IVS21-2 A > G | c.2932C > T, c.3246–2A > G |
| NPC25 | fs(exon20), N701K | c.2979dupA | C2103C > G |
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