Table 2 Clinical examinations and variant information.

From: A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review

Gene

Mutation

Inheritance

MAF

dbscSNV_

AD_SCORE

dbscSNV_

RF_SCORE

Category

ExAc

GnomAD

1000 Genome

NPRL2

c.339+2T>C

Inherited

NE

NE

NE

0.9995

0.866

LP

  1. Transcript: NM_006545.5.
  2. MAF minor allele frequency, NE not exist, LP likely pathogenic.
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