rs550454340

c.1957A > C

13

S653R

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs778522624

c.2048C > T

13

P683L

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs184921255

c.2102G > T

14

G701V

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs189303564

c.2183G > A

14

S728N

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs372821877

c.2427G > A

16

W809X

pathogenic

NR

NR

EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, 2017

rs536588537

c.2504T > C

16

L835P

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs199932669

c.2621T > A

17

L874Q

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs756785207

c.2779 + 9C > T

int

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs763859563

c.2931A > T

20

E977D

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs765206958

c.2947T > C

20

C983R

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs75098003

c.2993G > T

21

G998V

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs886047909

c.3091A > C

21

T1031P

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs886047910

c.3139T > G

21

W1047G

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs761311616

c.3320+12C > T

int

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs886047912

c.3706G > A

25

G1236R

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016

rs886047913

c.3707G > T

25

G1236V

uncertain significance

NR

NR

Illumina Clinical Services Laboratory, Illumina, 2016