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Table 1 Information on missense mutations in the CASK gene

From: A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia

Gene

CASK

 

cDNA mutation

NM_003688.3: c.638T>G

 

Variant allele frequency

ExAC Browser

0

 

GnomAD

0.000005520

 

1000 Genomes Project

0

 

In-house Chinese-Control

0

Amino acid sequence conservation (mutation taster)

PhyloP

3.907

 

PhastCons

1

Function prediction

SIFT

Deleterious

 

PolyPhen-2

Most likely, damaging

 

M-CAP

Possibly pathogenic