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Table 2 Candidate gene variants found by NGS

From: Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation

  Gene Variants Protein change case-III:2 case-II:1 control-II:2
1 LRP2 HT c.475 T > G p.F159V '0/1,35,27'a '0/1,36,21' '0/0,25,0'
2 TTC14 HT c.1298 T > C p.L433S '0/1,34,39' '0/1,11,19' '0/0,21,0'
3 LYSMD3 HT c.691A > T p.I231L '0/1,52,59' '0/1,40,32' '0/0,33,0'
4 PROB1 HT c.2552C > T p.P851L '0/1,9,3' '0/1,2,6' '0/0,10,0'
5 DLD HT c.1189A > G p.K397E '0/1,36,31' '0/1,30,31' '0/0,23,0'
6 RAD52 HT c.767C > T p.A256V '0/1,21,23' '0/1,19,20' '0/0,21,0'
7 UMOD HT c.691C > T p.L231F '0/1,22,21' '0/1,40,26' '0/0,27,0'
8 ACTG1 HT c.638A > G p.K213R '0/1,54,84' '0/1,45,52' '0/0,110,0'
9 CDH7 HT c.1427A > G p.N476S '0/1,35,39' '0/1,14,22' '0/0,21,0'
10 ATCAY HT c.401 T > C p.M134T '0/1,40,39' '0/1,40,39' '0/0,21,0'
11 XRN2 HT c.1696 T > C p.Y566H '0/1,30,28' '0/1,10,9' '0/0,21,0'
12 COL6A1 HT c.457C > G p.L153V '0/1,175,155' '0/1,171,154' '0/0,20,0'
  1. HT heterozygous; a'0/1,35,27' 0 indicates the reference base, 1 indicates the first variant, 35 indicates the count of reads supporting the reference base, 27 indicates the count of reads supporting the variant base
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