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Table 4 The minor allele frequency (MAF) in different populations

From: Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli’s syndrome: a case report

database

dbSNP

1000G_ ALL

1000G_ EAS

1000G_ SAS

ExAC_ ALL

ExAC_ EAS

ExAC_ SAS

gnomAD_ ESA

gnomAD_ SSA

PKHD1

c.T2507C

p.V836A

rs199568593

0.0002

0.001

-

0.0001

0.0013

0

-

0.0006

PKHD1

c.G10156C

p.V3386L

-

-

-

-

-

-

-

-

-

  1. 1000G 1000 Genomes Project
  2. EAS East Asian, SAS South Asian, ExAC Exome Aggregation Consortium
  3. gnomAD Genome Aggregation Database
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Diagnostic Pathology

ISSN: 1746-1596

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