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Table 5 Shortlist of seven candidate variants identified as plausible disease-causing variants

From: Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

Gene SNV dbSNP 1000 genomes project frequency ExAC genome browser frequency ESP6500 frequency
ALL AFR AMR EAS EUR SAS ALL AFR AMR EAS FIN NFE OTH SAS ALL AA EA
KCTD1 R336C None 0.00 0.00 0.00 0.00 0.00 0.00 5.15e-05 0.00 0.00 0.00 0.00 0.0001 0.00 0.00 0.00 0.00 0.00
COL6A5 P349L rs142949552 0.002 0.00 0.00 0.00 0.001 0.0092 0.0131 0.0005 0.0049 0.00 0.00 0.0039 0.0158 0.0279 0.00 0.00 0.00
SH3TC1 P778L rs145110444 0.002 0.0053 0.00 0.001 0.001 0.001 0.0009 0.0056 8.78e-05 0.00 0.0003 0.0005 0.0012 0.0012 0.0022 0.0007 0.0003
EVC2 L502R rs145909403 0.0006 0.0023 0.00 0.00 0.00 0.00 0.0001 0.0012 0.00 0.00 0.00 0.00 0.00 0.00 0.0002 0.0002 0.00
TTC37 R1503C rs200067423 0.0002 0.0008 0.00 0.00 0.00 0.00 4.16e-05 0.0004 8.74e-05 0.00 0.00 0.00 0.00 0.00 0.0001 0.0002 0.00
COL6A6 E368G None 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00 0.00
MFN2 H20Y rs201715603 0.00 0.00 0.00 0.00 0.00 0.00 0.0001 0.00 8.64e-05 0.00 0.00 0.0001 0.0011 0,0001 0.0001 0.00 0.0001
  1. KCTD1 Potassium Channel Tetramerization Domain Containing 1, COL6A5 Collagen Type VI Alpha 5, SH3TC1 SH3 Domain And Tetratricopeptide Repeats 1, EVC2 EvC Ciliary Complex Subunit 2, TTC37 Tetratricopeptide Repeat Domain 37, COL6A6 Collagen Type VI Alpha 6, MFN2 Mitofusin 2, SNV single nucleotide variant, AFR African, AMR Ad Mixed American, EAS East Asian, EUR European, SAS South Asian, FIN Finnish, NFE Non-Finnish European, OTH Other, AA African American, EA European American
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