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Table 2 Homozygous variants in the coding exons of NCL genes in the WGS of the Chinese Crested with NCL

From: A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis

Gene Exons with no variants Variants
Exon cDNA change A.A. change Comment
TPP1 1-6, 8-12 7 c.711A>G p.A237A Silent mutation
   7 c.885C>T p.P295P Silent mutation
PPT1 1-9     
CLN3 1,2,4-13 3 c.209A>G p.E70G Common allele
   14 c.1057-3 T>C   Common allele
   15 c.1309C>T p.L437L Silent mutation
DNAJC5 1-4     
CLN5 1-4     
CLN6 2,3,5-7 1 c.86A>G p.R29K Common allele
   4 c.327G>T p.L109L Silent mutation
MFSD8 1-7,9-12 8 c.846delT p.F282fs Unique allele
CLN8 2 1 c.327A>G p.T109T Silent mutation
CTSD 1-9     
GRN 1-9,11 10 c.1326_1344delins p.LPPAPTH 442_448FC Common allele
ATP13A2 2,4,6,7, 9,10,12-14,16-18,20-23,26,27 1 c.208G>A p.A70T Common allele
  3 c.509A>G p.H170R Common allele
  5 c.606-8A>G   Common allele
  5 c.639C>T p.D213D Silent mutation
  6 c.726T>G p.R242R Silent mutation
   6 c.728T>C p.M243T Common allele
   8 c.891T>C p.Y297Y Silent mutation
   11 c.1206T>C p.P402P Silent mutation
   15 c.1596-8_-6TCT> CCG   Common allele
   15 c.1692T>C p.Y564Y Silent mutation
   19 c.2369+5_+8CCCT> GCTG   Common allele
   24 c.3012>TC p.L1004L Silent mutation
   25 c.3120C>T p.F1040F Silent mutation
   25 c.3156A>G p.A1052A Silent mutation
   28 c.3763A>G p.M255V Common allele
CTSF 2-13 1 c.169A>C p.R57R Silent mutation
KCTD7 1-4