Table 1.
ICA Family members ID and variants filtering steps.
| Family ID | II-4 | II-5 | II-7 | II-9 | II-10 | III-1 | III-3 | III-7 | III-8 | III-9 | III-10 | IV-1 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age | 53Y | 60Y | 63Y | 51Y | 52Y | 35Y | 41Y | 34Y | 32Y | 28Y | 22Y | 16Y |
| Sex | female | male | male | male | female | male | female | female | male | male | male | male |
| Disease status | Healthy | Healthy | Healthy | ICA | Healthy | Healthy | Healthy | Healthy | ICA | ICA | ICA | ICA |
| Smell test results* | NA | NA | NA | 0/24 | 19/24 | NA | 20/24 | 20/24 | 0/24 | 7/24 | 0/24 | 0/24 |
| Total Variants | 114760 | 108192 | NA | 113826 | 112106 | 108115 | 111921 | NA | 112019 | 113508 | 111772 | 112236 |
| Shared variants | 88,042 | |||||||||||
| Homozygous variants | 16 (Homozygous in affected members, but either heterozygous or homozygous for reference allele in controls) | |||||||||||
| 1KG MAF < 0.01 | 1 | |||||||||||
| EXaC MAF < 0.01 | 1 | |||||||||||
| dbSNP 144 MAF < 0.01 | 1 | |||||||||||
| NHLBI MAF < 0.01 | 1 | |||||||||||
| Exonic Variants | 1 | |||||||||||
| Candidate | chrX:150,911,102; CNGA2.aAug10:c.577 C > T; p.Arg193* | |||||||||||
Y, year. NA, Not Available. ICA, Isolated Congenital Anosmia. *Based on Iran Smell Test. MAF, minor allele frequency. 1 KG, 1000 Genome project phase 3,. EXaC, Exome Aggregation Consortium version 0.3. dbSNP 144, Database of Single Nucleotide Polymorphism, NCBI. NHLBI, Exome Variant Server; NHLBI GO Exome Sequencing Project (ESP).