Table 2 In silico analysis of variants found by whole-exome sequencing

POI-1

Het.

DNAH6

NM_001370.2

missense

c.2407C > A

p.Q803K

0.000004062

B/T/P/T/T

Het.

missense

c.8680G > A

p.V2894M

0

D/D/D/D/D

POI-3

Het.

BNC1

NM_001717.4

missense

c.1724A > T

p.D575V

0.0003

D/T/D/D/D

POI-6

Het.

HFM1

NM_001017975.6

missense

c.3100G > A

p.G1034S

0

D/D/D/D/D

Het.

splice-site

c.1006 + 1G > T

–

0.00000523

−/−/D/D/D

POI-7

Het.

EIF2B4

NM_015636.3

missense

c.1397G > A

p.R466Q

0.00007716

D/T/D/D/D

POI-8

Het.

FOXL2

NM_023067.4

missense

c.676G > A

p.A226T

0

D/D/P/D/D

POI-9

Het.

MCM9

NM_017696.3

missense

c.2488G > A

p.A830T

0.00002173

B/T/P/T/T

POI-11

Het.

FANCA

NM_000135.4

missense

c.2340T > G

p.H780Q

0

D/D/P/T/T

POI-12

Het.

ATM

NM_000051.4

missense

c.2367C > G

p.N789K

0

B/T/P/T/T

POI-14

Het.

EIF2B2

NM_014239.4

missense

c.76G > A

p.G26S

0.000008134

D/T/D/T/D

c.922G > A

p.V308M

0.000008122

D/D/D/D/D

POI-17

Het.

EIF2B3

NM_020365.5

missense

c.389T > C

p.M130T

0.00003656

B/T/D/D/T

POI-18

Het.

FOXL2

NM_023067.4

missense

c.118G > C

c.G118C

0.00001754

D/T/P/T/D

POI-21

Het.

BNC1

NM_001717.4

missense

c.1703A > T

p.D568V

0.0003

D/T/D/D/D

missense

c.1574T > C

p.L525P

0.0006

D/D/D/D/D

POI-23

Het.

GHR

NM_000163.5

missense

c.282G > A

p.W94X

0

−/−/D/D/T

POI-24

Het.

LRPPRC

NM_133259.4

missense

c.7G > T

p.A3S

0.0001

D/D/D/D/D

c.2965C > T

p.R989C

0.0005

D/D/D/D/D