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Table 1 The analysis of pathogenicity of the variants in TARS2

From: Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report

Gene

Transcript

Mutation

Variant origin

MAF

CADD

GERP +  + 

SIFT

PolyPhen

Mutation Taster

PROVEAN

gnomAD (EAS AC)

ExAC (EAS AC)

1000 Genomes

TARS2

NM_025150.4

c.470C > G p.Thr157Arg

paternal

0.000163

0.000116

NE

22.6

5.23

D

PD

D

D

TARS2

NM_025150.4

c.2143G > A p.Glu715Lys

maternal

NE

NE

NE

25.7

5.25

D

PD

D

D

  1. MAF minor allele frequency, NE not exist, D disease causing or deleterious or damaging, PD possibly damaging, EAS AC East Asian ExAC
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BMC Medical Genetics

ISSN: 1471-2350

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