Glial Cell-Derived Neurotrophic Factor Functions as a Potential Candidate Gene in Obstructive Sleep Apnea Based on a Combination of Bioinformatics and Targeted Capture Sequencing Analyses

Table 4

Summary of detected rare variants by target sequencing of GDNF.

Position

Ref/Alt allele

Samples

Function

Predicted protein variants

1000G

ExAC03

gnomAD exome

Effect of the mutation

SIFT

POLYPhen V2

MutationTaster

CADD raw

DANN

37816009

C/T

1

Nonsynonymous SNV

NM_000514:exon3:c.278G>A:p.R93Q

—

0.00009896

0.00009549

T

P

D

4.723

0.997

37816121

C/T

1

Nonsynonymous SNV

NM_000514:exon3:c.166G>A:p.D56N

—

—

0.000003995

T

P

D

1.555

0.987

GDNF: glial cell-derived neurotrophic factor; 1000G: 1000 Genomes Project; ExAC03: 65000 exome allele frequency data for all; gnomAD: Genome Aggregation Database; SIFT: Sorting Intolerant From Tolerant (T: tolerated); POLYPhen V2: polymorphism phenotyping (P: possibly damaging); MutationTaster: (D: disease_causing); CADD: combined annotation-dependent depletion (cutoff is usually set as 4); DANN: a deep neural network (cutoff is usually set as 0.93).