Table 1.
Variants exclusive of family members and satisfying the filtering criteria
| Chr | Position | Gene | Variant | Amino acid change | (%) | dbSNP ID |
Found in (family code) |
|---|---|---|---|---|---|---|---|
| chr8 | 144,589,984 | ZC3H3 | c.1646 C > T |
p.Ser549 Leu |
0.5% | rs 149,025,999 |
PR 1, PR 2, PR 3, PR 4, PR 5, PR 7, PR 9 |
| chr9 | 738,341 | KANK1 | c.3391 G > C |
p.Ala1131Pro | 0.1% | rs 180,816,986 |
PR1, PR3, PR5 |
| chr17 | 27,286,417 | SEZ6 | c.1844 G > A |
p.Arg615 His |
0.01% | rs 371,753,097 |
PR1, PR2, PR5 |
| chr20 | 57,598,807 | TUBB1 | c.326 G > A |
p.Gly109 Glu |
0.2% | rs 41,303,899 |
PR1, PR2, PR3, PR5 |
| chr22 | 24,717,509 | SPECC1L | c.562 C > T |
p.Leu188 Phe |
0.9% | rs 56,168,869 |
PR1, PR2, PR3, PR5, PR9 |
Chr Chromosome number
Percentage population frequency refers to data of the European population frequency derived from the 1000 Genomes Project at the time the manuscript was written. See the “Methods” section of text for further details. Chromosome positions refer to the hg19 assembly. The gene of interest (SEZ6) is highlighted in bold, and members affected with AD are Italic