Table 1 Nonsynonymous SNVs and indels identified in patients but not in non-symptomatic family members

MED12L

chr3

c.G3629A

p.R1210Q

0.23

rs3732765

VEPH1

chr3

c.T1564C

p.S522P

0.28

rs11918974

CWF19L2

chr11

c.A2681G

p.Y894C

0.27

rs3758911

CEP164

chr11

c.G281A

p.S94N

0.19

rs490262

OR6T1

chr11

c.G465C

p.W155C

0.0046

rs150534954

OR8G5

chr11

c.G287A

p.C96Y

0.45

rs2512168

OR8G5

chr11

c.G716A

p.G239E

0.50

rs2512167

ROBO3

chr11

c.G1247A

p.R416H

0.14

rs3862618

SKA3

chr13

c.A1157G

p.K386R

0.13

rs11147976

SKA3

chr13

c.C1142T

p.T381I

0.11

rs11147977

SKA3

chr13

c.G559A

p.V187I

0.14

rs61950353

SKA3

chr13

c.208delC

p.Q70fs

-

rs151272242

NECAB2

chr16

c.C704G

p.T235S

0.20

rs2292324

DPEP1

chr16

c.G1051C

p.E351Q

0.24

rs1126464

ACTG1

chr17

c.T914C

p.M305T

-

-