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. Author manuscript; available in PMC: 2014 Jan 1.
Published in final edited form as: Hum Mutat. 2012 Oct 11;34(1):191–199. doi: 10.1002/humu.22210

Table 1.

Identification of HARS variants in patients with peripheral neuropathy

cDNA Change1 Amino-Acid Change2 Patient Chromosomes NINDS Control Chromosomes EVS Chromosomes 1000genomes Chromosomes ClinSeq™ Chromosomes dbSNP Accession No.
c.14C>A p.Ala5Glu 2/726 10/1,066 86/10,670 8/2,188 9/1,130 rs78741041
c.410G>A p.Arg137Gln 1/726 0/1,088 1/10,757 1/2,188 1/1,148 rs191391414
c.605G>A p.Gly205Asp 2/726 3/1,022 15/10,743 7/2,188 2/1,146 rs147288996
c.713T>C p.Val238Ala 1/726 0/1,092 NP NP NP NP
c.1127A>G p.Lys376Arg 1/726 0/1,090 62/10,696 3/2,188 NP rs139447495
c.1513C>T p.Pro505Ser 1/726 0/1,088 NP NP NP NP
1

Nucleotide positions are relative to the open reading frame from GenBank Accession No. NM_002109.3

2

Amino-acid positions are relative to GenBank Accession No. NP_002100.2

NP—Not Present