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. 2016 Dec 23;31(1):149–157. doi: 10.1111/jvim.14632

Table 1.

Sequence variants in neuronal ceroid lipofuscinosis‐associated genes

Chromosomal Coordinatea Zygosity cDNA Change Amino Acid Change SNPdb Reference Frequency in Controls
g.81203298 (CFA2) Heterozygous ATP13A2:c.251A>G p.H84R rs852341627 0.485
g.81204154 (CFA2) Heterozygous ATP13A2:c.81204154 p.M164T rs851078079 0.542
g.81215472 (CFA2) Heterozygous ATP13A2:c.3469A>G p.M1157V rs850751821 0.622
g.2860424 (CFA15) Homozygous PPT1:c.124 + 1G>A Splice variant None Zero

CanFam3.1 genome assembly.