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Table 1 Possibly pathogenic de novo mutations observed in trios (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

Gene Trios Chr Position Variant QUAL Depth Annotation Reference SIFT Polyphen EXaC
IGSF3 T1 1 117122285 I.F. INS 14,580 191 c.3122_3123insGGA
p.Asp1040_Asp1041insGlu
(NM_001542.3)
rs114915440 IN FRAME
INS
IN FRAME
INS
0.25
SPICE1 T1 3 113172543 SNP 3572 291 c.1912 T > G
p.Ser638Ala
(NM_144718.3)
nd unknown unknown nd
ZNF717 T2 3 75781257 SNP 106,499 580 c.293A > C
p.Gln98Pro
(NM_001290210.1)
rs150224351 0.06 0 nd
CTNND2 T2 5 10981914 SNP 299 111 c.3388G > A
p.Ala1130Thr
(NM_001332.3)
nd unknown unknown nd
NPHS2 T3 1 179526340 SNP 6106 530 c.560 T > C
p.Met187Thr
(NM_014625.3)
nd unknown unknown nd
PRSS55 T3 8 10390473 SNP 3426 172 c.656G > C
p.Trp219Ser
(NM_198464.3)
nd unknown unknown nd
  1. Abbreviations: nd not defined, Chr chromosome, SNP single nucleotide polymorphism, QUAL. a quality parameter measuring the probability p that the observation of the variant is due to chance (for ex: QUAL = n, p = 1/n). INS insertion, NM NCBI reference sequence of mRNA, ExAC minor allele frequency as defined in Exome aggregation consortium