Table 1 LRRC32 variants in PID patients

From: Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32

Pat.

Chromosomic change (hg38)

CDS change

Amino acid change

Variant type

dnSNP

AF gnomAD exomes

AC/AN gnomAD exomes

1

11-76660852-C-T

c.741G>A

p.Trp247Ter

stop_gained

–

–

–

11-76660659-G-A

c.934C>T

p.Arg312Cys

missense_variant

rs143082901

0.00031237

78/249706

2

11-76660659-G-A

c.934C>T

p.Arg312Cys

missense_variant

rs143082901

0.00031237

78/249706

11-76660331-C-T

c.1262G>A

p.Arg421Gln

missense_variant

rs200320285

0.00005036

12/238306

  1. Nomenclature according to both Ensembl’s canonical transcript ENST00000407242.6 and to RefSeq’s canonical transcript NM_001128922.2
  2. AF allele frequency, AC allele count, AN allele number
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