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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| NPC1 | 607623 | 257220 | 18q11-q12 | 1920delG | | NIEMANN-PICK DISEASE, TYPE C1 | 8 |
| NPC1 | 607623 | 257220 | 18q11-q12 | 2215(or 2217)delTCCTTT(or CTTTTC) | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | 2336insT | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | 424_425insGA | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | 451_452delAG | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | 813_815delCAT | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | ARG1186HIS | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | ARG404GLN | | NIEMANN-PICK DISEASE, TYPE C1 | 3 |
| NPC1 | 607623 | 257220 | 18q11-q12 | ARG404TRP | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | ARG978CYS | 0020 | NIEMANN-PICK DISEASE, TYPE C1 | 2 |
| NPC1 | 607623 | 257220 | 18q11-q12 | ASN1156SER | 0003 | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | ASP242HIS | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | ASP700ASN | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | ASP874VAL | | NIEMANN-PICK DISEASE, TYPE C1 | 2 |
| NPC1 | 607623 | 257220 | 18q11-q12 | ASP948ASN | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | c.1628delC | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | c.1947+5G>C | | NIEMANN-PICK DISEASE, TYPE C1 | 3 |
| NPC1 | 607623 | 257220 | 18q11-q12 | c.3662delT | 0021 | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | CYS42TYR | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |
| NPC1 | 607623 | 257220 | 18q11-q12 | CYS74TYR | | NIEMANN-PICK DISEASE, TYPE C1 | 1 |