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Table 3 HMCN1 identified variants and scores of GERP and pathogenicity prediction tools

From: Genome-wide linkage and exome analyses identify variants of HMCN1for splenic epidermoid cyst

Substitution

Variant ID

Sample

MAF

GERP

SIFT

PolyPhen-2

R5205H

rs150188026

II:2, II:6, III:2, IV:3, IV:4, IV:6

0.018

2.02

0.34

0.019

T5004I

rs114629728

Kos-2

0.005-0.011

2.56

0.29

0.175

H5244Q

rs75161007

Kos-3

0.005-0.022

0.69

0.60

0.010

A4704V

rs41317503

Kos-4

0.001

5.47

0.04

0.774

  1. Abbreviations: MAF Minor allele frequency (based on 1000 Genomes allele frequencies for Japanese and European populations), GERP Genomic evolutionary rate profiling.