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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

VariantAnnotationHeterozygous DLB casesDLB MAFMAF in- house controls (n = 432)gnomAD NFE AFgnomAD NFE AC, AN (number of homozygotes)
1:155205518 C/G (rs1064651)p.Asp448Hismissense variant20.00099100.000179, failed quality filtersAC = 23, AN = 128,640 (0)
1:155205563 C/A (rs80356769)p.Val433Leumissense variant20.00099100AC = 0, AN = 113,740 (0)
1:155205581 C/T (rs149171124)p.Glu427Lysmissense variant20.00099100.000263AC = 34, AN = 129,176 (0)
1:155205632 GGTT/Gp.Asn409delinframe deletion & splice region variant10.00054700NA
1:155205634 T/C (rs76763715)p.Asn409Sermissense variant & splice region variant190.0099580.00232020.002045AC = 264, AN = 129,124 (2)
1:155205638 A/G (rs377143075)c.1225-3 T > Csplice region variant & intron variant10.00052900.000093AC = 12, AN = 129,160 (0)
1:155206117 A/G (rs755021234)p.Cys381Cyssynonymous variant10.00049600.000009AC = 1, AN = 113,740 (0)
1:155206157 C/T (rs1064648)p.Arg368Hismissense variant10.00049600.000101AC = 13, AN = 129,174 (0)
1:155206167 C/T (rs2230288)p.Glu365Lysmissense variant750.0391870.010420.012340AC = 1594, AN = 129,170 (11)
1:155206187 G/Ap.Pro358Leumissense variant10.00049600NA
1:155206200 C/G (rs398123526)p.Asp354Hismissense variant10.00049600.000026AC = 3, AN = 113,764 (0)
1:155206262 T/Gc.1000-2A > Csplice acceptor variant & intron variant10.00049600.000000NA
1:155207965 C/T (rs409652)p.Gly241Argmissense variant20.00099200.000035AC = 4, AN = 113,766 (0)
1:155208060 C/Gp.Arg209Promissense variant10.00049600NA
1:155209539 G/A (rs368145008)p.Leu108Leusynonymous variant10.00052000.000023AC = 3, AN = 129,172 (0)
1:155209737 G/A (rs1141812)p.Arg83Cysmissense variant20.00099200.000054AC = 7, AN = 129,080 (0)
1:155210918 T/C (rs41264927)c.-15A > G5 prime UTR premature start codon gain variant20.00099100.001641AC = 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