The unique variations found in the linked regions using exome sequencing of one NLPHL patient
| Gene . | Amino acid change . | Validation status . | Segregation in the family . | Found in controls (of 3) . | Found in additional controls . |
|---|---|---|---|---|---|
| DLEC1 | 1305E > EG | False | |||
| KIF5A | 342W > LW | False | |||
| KRT85 | 189D > DN | True | Yes | 1 | |
| MIP | 107V > VI | True | Yes | 2 | |
| NBPF3 | 170Q > QR | False | |||
| NPAT | c. 2437–2438delAG | True | Yes | 0 | 0/239 |
| PAN2 | 247N > NT | False | |||
| PFKFB3 | 72G > WG | False | |||
| PFKFB3 | 440C > SC | False | |||
| POF1B | 315R > C | True | Yes | 0 | 2/251 |
| SLC22A14 | c. 713–716delTGTT | True | Yes | 1 | |
| UGCGL2 | 983Q > HQ | False | |||
| DDIT3 | 157R > RQ | True | No | ||
| DGKA | 296T > TA | True | Yes | ND | 2/110 |
| Gene . | Amino acid change . | Validation status . | Segregation in the family . | Found in controls (of 3) . | Found in additional controls . |
|---|---|---|---|---|---|
| DLEC1 | 1305E > EG | False | |||
| KIF5A | 342W > LW | False | |||
| KRT85 | 189D > DN | True | Yes | 1 | |
| MIP | 107V > VI | True | Yes | 2 | |
| NBPF3 | 170Q > QR | False | |||
| NPAT | c. 2437–2438delAG | True | Yes | 0 | 0/239 |
| PAN2 | 247N > NT | False | |||
| PFKFB3 | 72G > WG | False | |||
| PFKFB3 | 440C > SC | False | |||
| POF1B | 315R > C | True | Yes | 0 | 2/251 |
| SLC22A14 | c. 713–716delTGTT | True | Yes | 1 | |
| UGCGL2 | 983Q > HQ | False | |||
| DDIT3 | 157R > RQ | True | No | ||
| DGKA | 296T > TA | True | Yes | ND | 2/110 |
The results of the verification by direct sequencing and the segregation of the variation in the family are also shown.
ND indicates not determined.