Table 2 Mutations identified via next generation sequencing

3^a,WES

3:42728042

KLHL40

1

NM_152393

c.932G>T

p.Arg311Leu

Not found

3:42730455

4

c.1516A>C

p.Thr506Pro

A:7/C:121308

4^a,WES

3:42730521

KLHL40

4

c.1582G>A

p.Glu528Lys

G:8/A:120018

3:42730521

4

c.1582G>A

p.Glu528Lys

G:8/A:120018

16^WES

3:42727156

KLHL40

1

c.46C>T

p.Gln16^*

Not found

3:42727156

1

c.46C>T

p.Gln16^*

Not found

20^NSES

3:42728041

KLHL40

1

c.931C>A

p.Arg311Ser

C:6/A:121368

3:42728041

1

c.931C>A

p.Arg311Ser

C:6/A:121368

5^a,WES

2:170382132_9

KLHL41

6

NM_006063

c.1748_1755del8

p.Lys583Thrfs ^*7

Not found

2:170382132_9

6

c.1748_1755del8

p.Lys583Thrfs ^*7

Not found

12^a,WES

2:220331929_30

SPEG

12

NM_005876

c.2915_2916del2insA

p.Ala972Aspfs ^*79

Not found

2:220331929_30

37

c.8270G>T

p.Gly2757Val

Not found

38^{a,WES, NSES}

6:142729324

GPR126

16

NM_198569

c.2306T>A

p.Val769Glu

Not found

6:142729324

16

c.2306T>A

p.Val769Glu

Not found

14^NSES

23:149809808

MTM1

8

NM_000252

c.595C>T

p.Pro199Ser

Not found

6^WES

19:38951109

RYR1

20

NM_000540

c.2455C>T

p.Arg819^*

C:1/T:121396

19:38980890

36

c.5989G>A

p.Glu1997Lys

Not found

8^WES

19:38987106

RYR1

41

c.6721C>T

p. Arg2241^*

C:20/T:120468

19:39071143

101

c.14645C>T

p.Thr4882Met

C:2/T:121280

13^NSES

19:38946103

RYR1

15

c.1589G>A

p.Arg530His

G:8/A:121410

19:39071143

101

c.14645C>T

p.Thr4882Met

C:2/T:121280

9^WES

2:152539199

NEB

29

NM_001164508

c.2920C>T

p.Arg974^*

Not found

2:152539199

29

c.2920C>T

p.Arg974^*

Not found

2^a,WES

3:81698005

GBE1

(5)

NM_000158

c.691+2T>C

?

T:113/C:98680

3:81691968

7

c.956A>G

p.His319Arg

Not found

10^WES

2:233394798

CHRND

7

NM_000751

c.769T>C

p.Cys257Arg

Not found

2:233398996

11

c.1315delG

p.Val439Trpfs ^*11

Not found

15^NSES

2:233406191_2

CHRNG

5

NM_005199

c.459dupA

p.Val154Serfs ^*24

CA:32/C:121406

2:233406191_2

5

c.459dupA

p.Val154Serfs ^*24

CA:32/C:121406

1^WES

17:10544634

MYH3

18

NM_002470

c.2015G>A

p.Arg672His

Not found

11^NSES

17:10549042

MYH3

12

c.1123G>A

p.Glu375Lys

Not found

7^a,WES

2:233347865

ECEL1

9

NM_004826

c.1531G>A

p.Gly511Ser

Not found

2:233346560

(12)

c.1797-1G>A

?

Not found