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Table 2 Genotypes of 45 undiagnosis PKU families

From: Identification of deep intronic variants of PAH in phenylketonuria using full-length gene sequencing

ID

Classifcation

Paternal variant

Maternal variant

1

cPKU

c.728G>A

c.1199+502A>T

2

cPKU

c.1197A>T

c.706+368T>C

3

cPKU

c.1199+502A>T

c.728G>A

4

cPKU

c.1199+502A>T

c.728G>A

5

cPKU

c.1301C>A

c.1065+241C>A

6

cPKU

c.1199+502A>T

c.1238G>C

7

cPKU

c.1238G>C

c.1199+502A>T

8

cPKU

c.1199G>A

c.1199+502A>T

9

cPKU

c.1199+502A>T

c.728G>A

10

cPKU

c.1199+502A>T

c.782G>A

11

cPKU

c.526C>T

c.1199+502A>T

12

mPKU

c.1199+502A>T

c.1199G>A

13

mPKU

c.208_210delTCT

c.1065+241C>A

14

mPKU

c.1199+502A>T

c.694C>T

15

mPKU

c.842+2T>A

c.1199+502A>T

16

mPKU

c.1068C>A

c.1199+502A>T

17

mPKU

c.1199+502A>T

c.194T>C

18

mPKU

c.1199+502A>T

c.331C>T

19

mPKU

c.87C>A

c.1199+502A>T

20

mPKU

c.1065+241C>A

c.728G>A

21

mPKU

EX1-2del

c.706+531T>C

22

mPKU

c.706+608A>C

c.694C>T

23

mPKU

?

c.782G>A

24

mPKU

c.1301C>A

?

25

mPKU

c.782G>A

?

26

mPKU

c.1289T>C

?

27

mPKU

?

c.473G>A

28

mPKU

c.1301C>A

?

29

MHP

c.1199+502A>T

c.158G>A

30

MHP

c.532G>A

c.1199+502A>T

31

MHP

Exon3del

?

32

MHP

EX1-Updel

?

33

MHP

c.1256A>G

?

34

MHP

?

c.770G>T

35

MHP

c.1114A>T

?

36

MHP

c.611A>G

?

37

MHP

c.728G>A

?

38

MHP

c.194T>C

?

39

MHP

?

c.1200-1G>C

40

MHP

?

c.1068C>A

41

MHP

?

c.1068C>A

42

MHP

c.1315+6T>A

?

43

MHP

c.688G>A

?

44

MHP

?

c.782G>A

45

MHP

c.208_210delTCT

?