Table1 Identified causative variants in GPR156 which co-segregated with phenotype in respective families.

From: Novel GPR156 variants confirm its role in moderate sensorineural hearing loss

Family ID

 

Family 2254

Family 2986

Variant

 

NM_153002.3

NM_153002.3

c.600G > A

c.1863dupG

p.Thr200Thr

p.His622Alafs*30

gnomAD frequency

 

0.00003

Absent

Internal control frequency (Turkish)

 

0/1612

0/1612

MaxEntScan

Score

9.2

N/A

MAVERICK (AR)

Score

N/A

0.5

TraP

Score

0.97

N/A

  1. MaxEntScan maximum entropy scan, MAVERICK mendelian approach to variant effect pRedICtion built in Keras, TraP transcript-inferred pathogenicity score.
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