Table 1 Possible pathologic and uncertain variants found in this study

Missense

Exon 7

p.P240L

c.719C > T

73330641

EC3

11/11, 44/44, 40/40

4

7

6

0/192

0

rs121908354

0.999

−3.051

Known

[12]

Exon 11

p.P346S

c.1036C > T

73377052

-

12/12, 42/42, 41/41

0

1

0

0/192

0

None

0.989

−5.768

Known

[27]

Exon 16

p.G539D

c.1616G > A

73437314

EC5

12/12, 43/43, 42/42

0

1

0

0/190

0

None

0.092

−4.272

Novel

Exon 18

p.D645G

c.1934A > G

73442277

EC6

12/12, 45/45, 42/42

0

1

0

0/192

0

None

1.000

−5.596

Novel

Exon 25

p.E956K

c.2866G > A

73464800

EC9

12/12, 45/45, 42/42

0

4

0

0/192

0

None

0.999

−2.939

Known

[14]

Exon 35

p.R1417W

c.4249C > T

73498294

EC13

12/12, 32/44, 0/40

0

0

1

0/192

0

None

0.453

−1.346

Known

[12]

Exon 39

p.D1626A

c.4877A > C

73537468

EC15

12/12, 45/45, 41/42

0

1

0

0/192

0

None

0.952

−5.3

Known

[14]

Exon 39

p.Q1716P

c.5147A > C

73538025

EC16

12/12, 45/45, 40/41

0

2

0

0/192

0

None

0.972

−2.68

Known

[12]

Exon 46

p.R2029W

c.6085C > T

73550924

EC19

12/12, 45/45, 39/40

0

2

2

0/192

0

None

0.999

−4.659

Known

[12]

Exon 52

p.E2438K

c.7312G > A

73559336

EC23

12/12, 43/44, 15/41

0

2

0

0/192

0

None

0.314

−0.383

Known

[14]

Exon 53

p.L2473P

c.7418 T > C

73560448

EC23

11/11, 45/45, 36/36

0

0

1

0/192

0

None

0.998

−5.603

Known

[12]

Exon 53

p.R2489H

c.7466G > A

73560496

EC23

12/12, 45/45, 36/36

0

0

1

0/192

0

rs141986620

0.459

−1.219

Known

[12]

Frameshift

Exon 48

p.L2223Wfs

c.6667del C

73553352

-

-

0

1

0

0/192

0

None

-

-

Novel

Exon 63

p.N3044Tfs

c.9129 del G

73571123

-

-

0

1

0

0/190

0

None

-

-

Novel

Putative spice site

IVS11

-

c.1135-1G > T

73403617

-

12/12, 41/41, 4/4

0

0

1

0/192

0

None

-

-

Novel

IVS48

-

c.6712 + 1G > A

73553398

-

712/12, 44/44, 41/41

0

1

0

0/192

0

None

-

-

Known

[11]

Missense

Exon 13

p.V424M

c.1270G > A

73405717

EC4

12/12, 44/45, 0/36

0

0

1

0/190

0

rs2305207

0.557

−0.572

Novel

Exon 13

p.D428N

c.1282G > A

73405729

EC4

12/12, 39/45, 0/36

0

0

4**

0/190

0

rs188376296

0.103

−0.045

Novel

Exon 35

p.I1406V

c.4216A > G

73498261

EC13

12/12, 43/44, 40/40.

0

0

1

1/189

0

rs192459984

0.029

−0.304

Novel

Exon 38

p.G1583S

c.4747G > A

73501580

EC15

12/12, 44/44, 41/43

0

0

1

0/192

0

None

1.000

−4.967

Novel

Exon 40

p.V1711I

c.5131G > A

73538009

EC16

12/12, 29/45, 11/41

0

0

1

1/192

1/12645

rs181611778

0.998

−0.599

Known

[12]

Exon 42

p.G1799W

c.5395G > T

73544070

EC17

11/11, 45/45, 42/43

0

0

1**

0/192

0

None

0.998

−6.237

Novel

Exon 44

p.V1908I

c.5722G > A

73545397

EC9

11/12, 28/45, 33/41

0

0

1

0/192

0

None

0.005

0.125

Known

[14]

Exon 48

p.D2202E

c.6606C > A

73553291

EC21

12/12, 45/45, 41/42

0

0

1**

0/190

0

None

1.000

−3.068

Known

[28]

Exon 48

p.Q2227P

c.6680A > C

73553365

EC21

12/12, 44/44, 23/41

0

0

1

0/192

0

None

0.729

−0.775

Known

[29]

Exon 57

p.D2717N

c.8149G > A

73566009

EC25

12/12, 45/45, 42/42

0

0

1**

0/190

0

None

0.999

−1.909

Novel

Exon 61

p.G2912S

c.8734G > A

73569588

EC27

11/11, 45/45, 42/42

0

0

1

0/192

0

None

0.774

−2.221

Known

[14]

Exon 70

p.V3343M

c.10027G > A

73574997

-

12/12, 45/45, 16/37

0

0

1**

0/188

0

None

0.670

−0.427

Novel

Putative splice site

IVS2

-

c.68-3C > T

73206072

-

12/12, 40/44, 18/19

0

0

1

0/188

0

rs142456469

-

-

Novel

IVS7

-

c.625-5C > T

73330542

-

11/12, 41/44, 0/40

0

0

1

0/192

0

None

-

-

Novel

IVS52

-

c.7362 + 10G > A

73559396

-

12/12, 11/42, 5/20

0

0

1

0/192

0

None

-

-

Novel