Table 1 Clinically relevant mutations observed in the UK10K dataset.

From: Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

Genome Location (hg19)

SNP ID

Ref

Alt

No. of carriers identified

QUAL score

MAF (gnomAD)

Functional effect

DNA change

Amino acid change

chr1:215956104

rs111033264

A

G

1

24.8

2.889E-07

Missense

c.10561T > C

p.Trp3521Arg

chr1:215963510

rs148660051

C

T

4

247

0.000003829

Missense

c.10073G > A

p.Cys3358Tyr

chr1:216019240

rs397518041

C

T

1

46.4

0.00001627

Stop-Gain

c.8981G> A

p.Trp2994*

chr1:216420436

rs80338903

C

–

7

967

0.0006835

Frameshift

c.2299delG

p.Glu767Serfs

chr1:216497582

rs121912600

C

A

1

171

0.00004079

Missense

c.1256G > T

p.Cys419Phe

  1. Genome location is given in the format chr:variant position (hg19). QUAL score refers to PHRED quality score for sequence data at given base. Ref is the allele observed in the Human Reference sequence (hg19). Alt is the alternative allele observed in the UK10K. All variants were observed in a heterozygous form. Minor Allele Frequency (MAF) is given for all samples in the gnomAD population database (https://gnomad.broadinstitute.org/). DNA change refers to the position in the coding sequence for the gene. Amino acid change refers to the position altered in the protein.
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