Table 2 Possibly pathogenic and rare (MAF < 0.01) recessive variants mutations observed in each single trio (T). We did not observe any variants common to at least two trios
From: Whole exome sequencing in three families segregating a pediatric case of sarcoidosis
Trios | Gene | Chr. | Position | Variant | QUAL | Depth | Annotation | Reference | SIFT | Polyphen | Function | EXaC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Recessive Variants – MAF < 0.01 | ||||||||||||
 T1 | ZNF717 | 3 | 75787726 | SNP | 221,913 | 1345 | c.1048C > T p.Arg350Cys (NM_001128223.1) | nd | 0.14 | 0.689 * | Zinc finger protein Unknown | nd |
 T1 | WNT2 | 7 | 116963030 | SNP | 7083 | 305 | c.14 T > G p.Leu5Arg (NM_003391.2) | rs145839592 | 0.39 | 0.063 | Wnt/ß catenin pathway | 0.0011 |
 T1 | COG6 | 13 | 40254100 | SNP | 4954 | 228 | c.624-3dupT frame shift (NM_020751.2) | rs397756552 | High impact | High impact | Complex Oligomer Golgi complex | nd |
 T1 | BEGAIN | 14 | 101036074 | SNP | 20,030 | 273 | c.-16 + 1G > C Splice donor (NM_020836.3) | rs10140554 | SPLICE DEFECT | SPLICE DEFECT | Guanylate kinase-associated protein | nd |
 T1 | NDUFV3 | 21 | 44317156 | SNP | 8515 | 341 | c.168A > C p.Lys56Asn (NM_021075.3) | rs141922962 | 0.01 * | 0.927 * | Mitochondrial complex I subunit | 0.0051 |
 T2 | SHROOM1 | 5 | 132161699 | SNP | 13,112 | 130 | c.134C > A p.Pro45Gln (NM_001172700.1) | rs143556262 | 0.02 * | 0.274 | Regulator of the microtubule cytoskeleton | 0.0065 |
 T2 | FMNL1 | 17 | 43320554 | SNP | 7318 | 194 | c.2080G > A p.Ala694Thr (NM_005892.3) | rs76949926 | 1 | 0.121 | Rac1-mediated cell migration and division | 0.0019 |
 T3 | DCP1B | 12 | 2062323 | In frame INS | 65,685 | 295 | c.780_782dupGCA p.Gln261dup (NM_152640.3) | rs149912567 | nd * | nd * | Decapping mRNA at the 5' end | 0.00784 |
 T3 | CHRNA3 | 15 | 78913067 | In frame DEL | 27,072 | 105 | c.67_69delCTG p.Leu23del (NM_000743.4) | rs66793222 | nd * | nd * | nicotinic acetylcholine receptor | 0.00138 |