Table 2 Details of BMPR2 mutations

K6628

1

c.?_-540_76_?del

Del aa1-25?

Deletion

50 y

K4808

1

c.?_-540_76_?del

Del aa1-25?

Deletion

23 y

K9063

1

c.48G > A

p.W16X

Nonsense

14 y

K4518

*

2

c.91G > T

p.E31X

Nonsense

45 y

K4452

*

2

c.244C > T

p.Q82X

Nonsense

39 y

K1893

*

2-3

Del c.77?-c.418?

Deletion

27 y

K7369

3

c.353C > T

p.C118Y

Missense

56 y

K15016

3

c.377A > G

p.N126S

Missense

28 y

K14629

3

c.377A > G

p.N126S

Missense

61 y

K7341

3

c.?_248-c.418_?del

Deletion

31 y

K2878

*

Intron 3

c.418+5G > A

Splice defect

25 y

K14983

4

c.439C > T

p.R147X

Nonsense

49 y

K6834

*

4

c.461C > G

p.A154G

Missense/unclassified variant

33 y

K7833

4

c.507 C > A

p.C169X

Nonsense

41 y

K2917

*

4-13

Del c.419? - c.3017?

Deletion

30 y

K6565

6

c.631G > A

p.R211X

Nonsense

51 y

K6686

*

6

c.660insG

p. G220fsX224

Frameshift

18 y

K14147

6

c.818T > G

p.M273R

Missense

59 y

K5429

7

c.961C > T

p.R321X

Nonsense

27 y

K5633

7

c.961C > T

p.R321X

Nonsense

50 y

K12665

7

c.961C > T

p.R321X

Nonsense

69 y

K3771

Intron 8

c.1128+1G > T

del aa323-425

Splice defect

40 y

K7892

*

9

c.1157A > G

p.E386G

Missense/unclassified variant

52 y

K8027

9

c.1259G > A

p.C420Y

Missense

56 y

K11314

9

c.1258T > C

p.C420R

Missense

28 y

K15582

*

10

c.1296C > G

p.Y432X

Nonsense

28 y

K15529

10

c.1297C > T

p.Q433X

Nonsense

32 y

K4690

10

c.1313-1316delCAGA

p.T438fsX472

Frameshift

43 y

MHH09

10

c.1348C > T

p.Q450X

Nonsense

44 y

MHH52

10

c.1388insA

p.P463fsX470

Frameshift

52 y

K5943

10

c.1397G > A

p.W466X

Nonsense

47 y

K14763

*

Intron 10

c.1413+1G > A

Splice defect

43 y

K7816

Intron 10

c.1413+3A > T

p.G426fsX453

Splice defect

45 y

K12666

*

11

c.1460A > T

p.D487V

Missense/unclassified variant

42 y

K6717

11

c.1471C > T

p.R491W

Missense

70 y

K6361

11

c.1471C > T

p.R491W

Missense

40 y

K6201

11

c.1471C > T

p.R491W

Missense

30 y

K11744

11

c.1472G > A

p.R491Q

Missense

26 y

K5590

11

c.1483C > T

p.Q495X

Nonsense

35 y

K7936

*

11

c.1523G > A

p.W508X

Nonsense

40 y

K13356

11-12

Del c.1414-? _2866+?

Deletion

17.25 y

K10005

*

12

c.1598A > G

p.H533R

Missense

26 y

MHH18

12

c.1750C > T

p.R584X

Nonsense

62 y

K14424

*

12

c.2308delC

p.R770fsX771

Frameshift

29 y

K12298

12

c.2617C > T

p.R873X

Nonsense

50 y

K12921

12

c.2617C > T

p.R873X

Nonsense

53 y

K13213

*

12

c.2626C > T

p.Q876X

Nonsense

26 y

K8521

12

c.2695C > T

p.R899X

Nonsense

34 y

K10327

12

c.2695C > T

p.R899X

Nonsense

19 y