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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.