Table 2 PAHD variants and allele distributions in PAHD patients

1

E2

c.158G > A

p.Arg53His

Missense

9/94(9.57 %)

2

E3

c.194T > C

p.Ile65Thr

Missense

1/94(1.06 %)

3

E3

c.223G > C

p.Asp75His

Missense

1/94(1.06 %)

4

E3

c.301G > A

p.Asp101Asn

Missense

2/94(2.13 %)

5

E3

c.331 C > T

p.Arg111Ter

Nonsense

3/94(3.19 %)

6

E5

c.464G > A

p.Arg155His

Missense

1/94(1.06 %)

7

E5

c.472 C > T

p.Arg158Trp

Missense

1/94(1.06 %)

8

E5

c.494 C > A

p.Ala165Asp

Missense

1/94(1.06 %)

9

E5

c.505 C > A

p.Arg169Ser

Missense

1/94(1.06 %)

10

E6

c.527G > A

p.Arg176Gln

Missense

2/94(2.13 %)

11

E6

c.611 A > G

p.Tyr204Cys

Splice

7/94(7.44 %)

12

E6

c.649T > C

p.Cys217Arg

Missense

1/94(1.06 %)

13

E6

c.659 A > C

p.His220Pro

Missense

1/94(1.06 %)

14

E7

c.688G > A

p.Val230Ile

Missense

1/94(1.06 %)

15

E7

c.721 C > T

p.Arg241Cys

Missense

6/94(6.38 %)

16

E7

c.722G > C

p.Arg241Pro

Missense

1/94(1.06 %)

17

E7

c.722delG

p.Arg241fs

In-frame

1/94(1.06 %)

18

E7

c.728G > A

p.Arg243Gln

Missense

13/94(13.83 %)

19

E7

c.755G > A

p.Arg252Gln

Missense

1/94(1.06 %)

20

E9

c.964G > A

p.Ala322Thr

Missense

1/94(1.06 %)

21

E9

c.965 C > A

p.Ala322Asp

Missense

1/94(1.06 %)

22

E10

c.971T > A

p.Ile324Asn

Missense

1/94(1.06 %)

23

E10

c.1045T > G

p.Ser349Ala

Missense

4/94(4.26 %)

24

E11

c.1068 C > A

p.Tyr356Ter

Nonsense

2/94(2.13 %)

25

E11

c.1123 C > G

p.Glu375Glu

Missense

1/94(1.06 %)

26

E11

c.1174T > A

p.Phe392Ile

Missense

4/94(4.26 %)

27

E11

c.1197 A > T

p.Val399=

Missense

2/94(2.13 %)

28

E12

c.1222 C > T

p.Arg408Trp

Missense

1/94(1.06 %)

29

E12

c.1238G > C

p.Arg413Pro

Missense

5/94(5.32 %)

30

E12

c.1243G > A

p.Asp415Asn

Missense

1/94(1.06 %)

31

E12

c.1301 C > A

p.Ala434Asp

Missense

3/94(3.19 %)

32

I1

c.84-291 A > G

Splice

2/94(2.13 %)

33

I2

c.168 + 5G > C

Splice

1/94(1.06 %)

34

I3

c.353-2 A > T

Splice

1/94(1.06 %)

35

I4

c.442-1G > A

Splice

3/94(3.19 %)

36

I5

c.509 + 5delG

Splice

1/94(1.06 %)

37

I12

c.1315 + 5G > C

Splice

1/94(1.06 %)

38#

E2

c.155 A > G

p.Asn52Ser

Missense

1/94(1.06 %)

39*

E7

c.735G > A

p.Val245=

SNV

1/94(1.06 %)

40*

I4

c.61-907T > C

SNV

1/94(1.06 %)

41⁰

-

-

Undetected

2/94(2.13 %)

Total

94