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Table 2 Variants in GBA that had a call-rate of 90% or over in the DLB cohort

From: Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

Variant Annotation Heterozygous DLB cases DLB MAF MAF in- house controls (n = 432) gnomAD NFE AF gnomAD NFE AC, AN (number of homozygotes)
1:155205518 C/G (rs1064651) p.Asp448His missense variant 2 0.000991 0 0.000179, failed quality filters AC = 23, AN = 128,640 (0)
1:155205563 C/A (rs80356769) p.Val433Leu missense variant 2 0.000991 0 0 AC = 0, AN = 113,740 (0)
1:155205581 C/T (rs149171124) p.Glu427Lys missense variant 2 0.000991 0 0.000263 AC = 34, AN = 129,176 (0)
1:155205632 GGTT/G p.Asn409del inframe deletion & splice region variant 1 0.000547 0 0 NA
1:155205634 T/C (rs76763715) p.Asn409Ser missense variant & splice region variant 19 0.009958 0.0023202 0.002045 AC = 264, AN = 129,124 (2)
1:155205638 A/G (rs377143075) c.1225-3 T > C splice region variant & intron variant 1 0.000529 0 0.000093 AC = 12, AN = 129,160 (0)
1:155206117 A/G (rs755021234) p.Cys381Cys synonymous variant 1 0.000496 0 0.000009 AC = 1, AN = 113,740 (0)
1:155206157 C/T (rs1064648) p.Arg368His missense variant 1 0.000496 0 0.000101 AC = 13, AN = 129,174 (0)
1:155206167 C/T (rs2230288) p.Glu365Lys missense variant 75 0.039187 0.01042 0.012340 AC = 1594, AN = 129,170 (11)
1:155206187 G/A p.Pro358Leu missense variant 1 0.000496 0 0 NA
1:155206200 C/G (rs398123526) p.Asp354His missense variant 1 0.000496 0 0.000026 AC = 3, AN = 113,764 (0)
1:155206262 T/G c.1000-2A > C splice acceptor variant & intron variant 1 0.000496 0 0.000000 NA
1:155207965 C/T (rs409652) p.Gly241Arg missense variant 2 0.000992 0 0.000035 AC = 4, AN = 113,766 (0)
1:155208060 C/G p.Arg209Pro missense variant 1 0.000496 0 0 NA
1:155209539 G/A (rs368145008) p.Leu108Leu synonymous variant 1 0.000520 0 0.000023 AC = 3, AN = 129,172 (0)
1:155209737 G/A (rs1141812) p.Arg83Cys missense variant 2 0.000992 0 0.000054 AC = 7, AN = 129,080 (0)
1:155210918 T/C (rs41264927) c.-15A > G 5 prime UTR premature start codon gain variant 2 0.000991 0 0.001641 AC = 212, AN = 129,174 (0)
  1. All variants were found in the heterozygous state, apart from the variant in bold, p.Glu365Lys, which was found as a homozygous variant in 2 DLB cases. The frequency of these variants are also reported in 432 in-house controls who died aged 60 or over without disease neuropathology. MAF Minor Allele Frequency, gnomAD NFE Non-Finnish European, AC Allele Count, AN Allele Number