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Table 2 Exome sequence variants filtered by database and the prediction by ACMG/AMP guidelines

From: Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA)

Chromosome location

Chr9-130630703

Chr9-130634202–130634203

c.variants

c.413G > A

c.223dupA

p.variants

p.R138H

p.M75fs

PolyPhen2 prediction (score)

Probably damaging (0.999)

NA

SIFT prediction (score)

Toleranted (0.06)

NA

MACP

P (0.353)

NA

REVEL

D (0.747)

NA

MutationTaster prediction

Disease causing

Disease causing

InterVar

Pathogenic

 

PVS1

1

 

PM1

1

 

PM2

1

 

PP3

1