Table 2 Candidate gene variants found by NGS

1

LRP2

HT c.475 T > G

p.F159V

'0/1,35,27'^a

'0/1,36,21'

'0/0,25,0'

2

TTC14

HT c.1298 T > C

p.L433S

'0/1,34,39'

'0/1,11,19'

'0/0,21,0'

3

LYSMD3

HT c.691A > T

p.I231L

'0/1,52,59'

'0/1,40,32'

'0/0,33,0'

4

PROB1

HT c.2552C > T

p.P851L

'0/1,9,3'

'0/1,2,6'

'0/0,10,0'

5

DLD

HT c.1189A > G

p.K397E

'0/1,36,31'

'0/1,30,31'

'0/0,23,0'

6

RAD52

HT c.767C > T

p.A256V

'0/1,21,23'

'0/1,19,20'

'0/0,21,0'

7

UMOD

HT c.691C > T

p.L231F

'0/1,22,21'

'0/1,40,26'

'0/0,27,0'

8

ACTG1

HT c.638A > G

p.K213R

'0/1,54,84'

'0/1,45,52'

'0/0,110,0'

9

CDH7

HT c.1427A > G

p.N476S

'0/1,35,39'

'0/1,14,22'

'0/0,21,0'

10

ATCAY

HT c.401 T > C

p.M134T

'0/1,40,39'

'0/1,40,39'

'0/0,21,0'

11

XRN2

HT c.1696 T > C

p.Y566H

'0/1,30,28'

'0/1,10,9'

'0/0,21,0'

12

COL6A1

HT c.457C > G

p.L153V

'0/1,175,155'

'0/1,171,154'

'0/0,20,0'