Table 1 Patient characteristics

1

F

0.2

c.2481 + 102_2646 + 31del

c.2102T > C

1.7

5.9

Yes

1:156,250

2^§,a

M

11.8

c.-32-13T > G (IVS1)

c.1441T > C

16.0

12.9

No

1:31,250

3^¥,†

F

1.0

c.875A > G

Unknown

12.7

10.0

Yes (6y)

Invasive (6y)

Yes

1:31,250

4

M

5.0

c.-32-13T > G (IVS1)

c.525delT

11.0

9.6

No

1:31,250

5

M

0.8

c.-32-13T > G (IVS1)

c.525del

9.8

7.9

No

1:31,250

6^§,b

M

2.5

c.-32-13T > G (IVS1)

c.2331 + 2T > A

13.0

13.9

No

1:6400

7^a

F

10.0

c.877G > A + c.271G > A

c.-32-3C > A

16.4

19.6

Yes (16y)

Non-invasive (12y)

No

1:6250

8^*,c

M

0.5

c.-32-13T > G (IVS1)

c.525del

11.9

19.3

Yes (11y)

No

1:6250

9^§,b

F

6.5

c.-32-13T > G (IVS1)

c.525del

12.7

13.9

No

1:6250

10

M

8.9

c.-32-13T > G (IVS1)

c.525del

10.5

6.4

No

1:6250

11^¥,d

M

1.0

c.379_380del

c.875A > G

3.4

3.4

No

1:6250

12^*,e

M

2.0

c.-32-13T > G (IVS1)

c.525del

13.1

14.3

Yes

1:1250

13^b,f

M

2.7

c.1634C > T

c.2481 + 102_2646 + 31del

6.0

13.9

No

1:1250

14^b

M

1.0

c.-32-13T > G (IVS1)

c.525del

15.2

13.9

Non-invasive (12y)

No

1:1250

15^b

F

0.8

c.-32-13T > G (IVS1)

c.923A > C

8.9

13.9

No

1:1250

16^§,‡,e

M

0.8

c.-32-13T > G (IVS1)

c.2135T > C

2.9

13.7

Yes

1:1250

17

F

6.0

c.1829C > T

c.1912G > T

10.1

12.8

Yes (9y)

Non-invasive (8y)

No

1:1250

18^§

M

13.0

c.-32-13T > G (IVS1)

c.1933G > A

14.3

11.9

No

1:1250

19^§,‡

F

0.8

c.-32-13T > G (IVS1)

c.2135T > C

1.1

9.9

No

1:1250

20

F

5.0

c.-32-13T > G (IVS1)

c.2331 + 2T > A

8.5

8.5

No

1:1250

21^§

F

1.0

c.-32-13T > G (IVS1)

c.525del

1.9

3.9

No

1:250

22^¥,d

M

1.3

c.1115A > T

c.1115A > T

1.4

2.2

No

1:250

Overall

Male N = 13 (58%)

1.7 (0.2–13.0)

IVS1 N = 15 (68%)

10.3 (1.1–16.4)

12.4 (2.2–19.6)

N = 4 (18%)

N = 4 (18%)

IARs N = 4 (18%)

High peak titer N = 5 (23%)