Table 1 MYBPC3 mutations detected in this study

1

IVS1

c.26-2A>G

unknown

3 (1)

2/2

Novel (similar [17])

2

2

c.141delT

p.S47fs

3

2/2

Novel

3

6

c.711C>A

p.Y237X

1

1/1

Novel

4

6

c.772G>A

p.E258K

1

1/1

[6, 22, 25–27]

5

7

c.814C>T

p.R272C

1 (1)

6/4

Novel^§

6

IVS11

c.927-2A>G

unknown

2 (1)

4/2

[6, 25]

7

12

c.1006A>G

p.I336V

1

1/1

Novel

8

15

c.1235_1236delTT

p.F412fs

2

2/2

[17, 25]

9

17

c.1484G>A

p.R495Q

1

1/1

[6, 17, 28]

10

17

c.1505G>A

p.R502Q

1

1/1

[6, 21, 29]

11

18

c.1699_1670delGA

p.E567fs

3

3/2

[17]

12

IVS23

c.2308+1G>A

unknown

5 (3)

8/5

[19, 25]

13

25

c.2437_2439delAAG

p.K814del

2 (1)

1/1

[17, 27, 29, 30]

14

26

c.2670G>A

p.W890X

3

5/2

[17]

15

27

c.2870C>G

p.T957S

1

1/1

Novel

4

27

c.2873C>T

p.T958I

1

1/1

[31]

16

IVS31

c.3490+1G>T

unknown

7

7/6

Novel^§ (similar [32])

17

33

c.3697C>T

p.Q1233X

4 (1)

6/5

[18, 19]; polymorphism [17]

18

33

c.3697C>T

p.Q1233X

3 (1)

3/2