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Table 1 List of the exome candidate variants identified in the patient MI-1

From: Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

Gene Chrom Position Ref_Seq Exon cDNA Protein EVSFreq dbSNP138 ExAC02_All ExAC02_Eur PhyloP SIFT PolyPhen2 LRT MutationTaster GERP++ CADD
Recessive
COL1A1 chr17 48265471 NM_000088.3 44 c.3247G > A p.(Ala1083Thr) 7,7E-05 rs372029024 3,277E-05 6,631E-05 1.212 0,09 P D D 4,29 14,23
COL1A1 chr17 48274385 NM_000088.3 11 c.790A > T p.(Met264Leu) 7,7E-05 rs374947065 8,132E-06 1,477E-05 1.952 0,58 B D D 5,19 11,54
EXPH5 chr11 108382912 NM_001144763.1 6 c.3094A > T p.(Thr1032Ser) 0   1,627E-05 2,967E-05 0,065 0,27 B N N 1,75 10,15
EXPH5 chr11 108382329 NM_001144763.1 6 c.3677C > G p.(Thr1226Arg) 0   8,132E-06 1,481E-05 0,372 0,27 B N N 2,91 10,69
X-Rec.
AR chrX 66766013 NM_000044.2 1 c.1025C > T p.(Pro342Leu) 0   0 0 2.317 0,18 D N D 4,09 14,24
IL1RAPL2 chrX 104440391 NM_017416.1 3 c.317C > T p.(Ala106Val) 0,002461 rs144175494 0,001008 0,0017 1.081 0,48 B N D 3,35 14,42
De Novo
FMNL2 chr2 153473665 NM_052905.3 13 c.1273A > G p.(Lys425Glu) 0   0 0 2.231 0,6 D D N 5,04 25,2
  1. Main candidate variants are evidenced in bold. Chrom Chromosome, EVSFreq Exome Variant Server frequency (NHLBI Exome sequencing Project, ESP), ExAC02 ExAC Browser (Beta), Exome Aggregation Consortium, Eur European
  2. P probably damaging, B benign, N neutral, D damaging