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Table 4 “Gold-standard” GoP variants in PRSS1

From: Expanding ACMG variant classification guidelines into a general framework

Variant

gpAF in gnomADa

hspAF in gnomADa

Nucleotide change

Amino acid change

c.311T > C

p.Leu104Pro

Absent

 

c.346C > T

p.Arg116Cys

0.00007072

0.0007018 (East Asian)

c.415T > A

p.Cys139Ser

Absent

 

c.416G > T

p.Cys139Phe

Absent

 
  1. See the Genetic Risk Factors in Chronic Pancreatitis Database [38] for original genetic and functional analysis reports
  2. GoP gain-of-proteotoxicity, gpAF global population allele frequency, hspAF highest subpopulation allele frequency
  3. aIn accordance with gnomAD v2.1.1 or SVs v2.1 (https://gnomad.broadinstitute.org/) [74]
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Human Genomics

ISSN: 1479-7364