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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