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. Author manuscript; available in PMC: 2021 Feb 1.
Published in final edited form as: Cerebellum. 2020 Feb;19(1):154–160. doi: 10.1007/s12311-019-01080-y

Table 1.

AARS2 variants identified

Nucleotide changea Amino acid
changeb
Detection in
gnomADc
Minor allele
frequency
c.390-392del p.Phe131del 1 / 251,492 0.000004
c.984C>G p.Ile328Met Not present 0
a

Human nucleotide positions correspond to GenBank Accession number NM_020745.4

b

Human amino acid positions correspond to GenBank Accession number NP_065796.2