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Table 3 Variants found in more than 1 DLB case, that were present in 5 or less individuals from the gnomAD exome dataset of non-Finnish Europeans

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

Gene

Transcript

Variant

Number of DLB cases

GnomAD NFE AC (Total NFE AN)

PARK2

ENST00000366898

p.Gln440Arg

2

1 (112822)

VPS13C

ENST00000261517

p.Ile288Met

2

4 (112094)

TUBA4A

ENST00000248437

p.Val181Met

2

5 (113764)

DNAJC6

ENST00000371069

p.Val632Ala

2

0 (83222)

VPS35

ENST00000299138

p.Arg499His

2

4 (113646)

  1. All variants were identified in the heterozygous state. gnomAD NFE Non-Finnish European, AC Allele Count, AN Allele Number
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Acta Neuropathologica Communications

ISSN: 2051-5960

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