Table 2 Genetic Variants Identified in Population Using WES.

From: Exome Sequencing Reveals Immune Genes as Susceptibility Modifiers in Individuals with α1-Antitrypsin Deficiency

Genetic Variants Identified in Population Using WES

Subjects

9

All variants

77204

 

Not confirmed transcript

  

20730

 

UTRs

  

14597

 

Functionally annotated

  

41877

  

Synonymous

 

20748

  

Non-synonymous

 

21129

   

Missense

19751

   

Nonsense

240

   

Frame-shit

612

   

In-frame

447

   

Stop-loss

59

   

Stop-gain

20

Rare

(GMAF < 1%)

   

5914

Novel

   

3345

Deletion

   

645

Insertion

   

413

  1. Definition of abbreviations: GMAF = global minor allele frequency.