Table 2 Genetic variants

Premature termination

c.297dupT

p.R100*

Duplication/FS

1

Yes

c.327_357dup31

p.Q120Sfs*35

Duplication/FS

1

No

c.1588_1594dupGGCTGCA

p.T532fs

Duplication/FS

1

No

c.1524T>A

p.C508*

Nonsense

1

Yes

In-frame deletion

c.943_945delGAT¹

p.D315del

Deletion

1

No

c.941_943delTTG¹

p.V314del

Deletion

1

No

c.977_979delGTA

p.S326del

Deletion

1

No

Missense

c.519T>A

p.F173L

Missense

1

Yes

c.700A>G

p.N234D

Missense

1

Not sure

c.728G>A

p.G243D

Missense

1

No

c.730T>C

p.S244P

Missense

1

Yes

c.734A>G

p.Y245C

Missense

1

No

c.749G>A

p.R250K

Missense

1

No

c.800G>T

p.G267V

Missense

1

Not sure

c.851C>G

p.A284G

Missense

1

No

c.938A>C

p.D313A

Missense

1

No

c.987G>A

p.M329I

Missense

1

Yes

c.1100G>A

p.C367Y

Missense

1

Yes

c.1108G>A

p.D370N

Missense

1

Not sure

c.1333G>C

p.V445L

Missense

1

No

c.1336T>G

p.Y446D

Missense

1

Yes

c.1337A>G

p.Y446C

Missense

3

Yes

c.1340G>A

p.S447N

Missense

1

Yes

c.1341T>G

p.S447R

Missense

1

Not reported²

c.1466T>A

p.V489D

Missense

1

Yes

Intronic

c.560+5G>C

IVS6+5G>C

Intronic

1

No

c.865-7A>G

IVS9-7A>G

Intronic

1

No

CNV

3q26.32 (176.654.197–176.884.880) × 3

Duplication

2

Yes

3q26.31q26.32

Deletion (1.58 Mb)

Deletion

1

No

3q26.32q26.36

Deletion (25.71 kb)

Deletion

1

No