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

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

CTGC

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