Table 2 Prenatal data of 63 fetuses with one or more metabolites results inconsistent with genetic results

1

c.80A>G

c.658_660delAAG

13.32

2.42

0.30

1.55

0.51

2

c.568insT

c.467G>A

18.30

5.37

0.85

0

0.92

3

c.80A>G

c.481C>T

22.41

4.41

0.66

8.49

0

4

c.481C>T

Exon1 deletion

18.76

8.15

0.75

6.44

0

5

c.80A>G

c.609G>A

14.60

3.96

0.43

14.75

0.97

6

c.609G>A

c.656_658delAAG

13.20

10.06

0.74

5.58

0.45

7

c.394C>T

c.609G>A

12.50

6.95

0.63

0

0

8

c.609G>A

c.656_658delAAG

16.10

6.31

0.61

0

0.55

9

c.482G>A

c.609G>A

7.10

6.71

0.54

0

0.06

10

c.80A>G

c.609G>A

16.90

11.15

0.58

6.57

0

11

Exon1 deletion

c.599G>A

28.90

14.76

1.17

144.40

0

12

c.80A>G

c.658_660delAAG

15.10

2.30

0.33

3.64

0

13

c.455_457delCCC

c.658_660delAAG

17.00

11.73

0.63

0

0

14

c.609G>A

c.445_446delTG

21.40

9.19

0.83

13.31

0

15

c.428C>T

c.658_660delAAG

12.60

6.04

0.53

9.64

0

16

c.80A>G

c.609G>A

23.70

7.33

0.67

5.88

0

17

c.80A>G

c.609G>A

26.60

8.69

0.82

3.35

0

18

c.394C>T

c.445_446delTG

27.80

8.24

0.79

9.35

0

19

c.445_446delTG

c.609G>A

16.50

15.41

0.93

1.79

0

20

c.609G>A

c.658_660delAAG

12.00

5.67

0.41

7.53

0

21

c.57_58insT

c.609G>A

18.60

11.85

0.94

6.13

0

22

c.609G>A

Carry the same paternal allele as the proband

20.10

14.95

0.92

6.13

0

23

c.217C>T

c.609G>A

14.30

3.90

0.50

6.24

0

24

c.609G>A

c.626_627delTG

14.40

12.79

0.70

7.28

0

25

c.445_446delTG

c.609G>A

23.40

10.73

0.90

12.96

0

26

c.609G>A

c.658_660delAGA

17.00

10.67

0.74

7.78

0

27

c.394C>T

c.656_658delAGA

10.20

6.69

0.40

0

0

28

c.609G>A

c.658_660delAGA

17.30

7.53

0.52

6.82

0

29

c.80A>G

c.609G>A

21.80

6.11

0.49

7.09

0

30

c.567dupT

c.99delA

19.70

19.58

0.89

6.04

0

31

c.609G>A

c.658_660delAAG

19.80

10.38

0.58

3.85

0

32

c.80A>G

c.609G>A

11.80

5.70

0.32

0

0

33

c.567dupT

c.609G>A

21.20

11.71

0.64

10.64

0

34

c.482G>A

c.482G>A

6.62

2.61

0.43

5.95

0.39

35

c.445_446delTG

c.609G>A

19.19

3.54

0.68

3.2

1.51

36

c.482G>A

c.482G>A

8.90

2.09

0.28

4.01

0

37

c.609G>A

c.609G>A

20.00

17.65

0.79

0

0

38

c.609G>A

c.609G>A

19.00

9.91

0.60

5.71

0

39

c.609G>A

c.658_660delAAG

22.60

6.81

0.69

2.37

0

40

c.609G>A

c.609G>A

16.40

7.87

0.80

5.07

0

41

c.609G>A

c.609G>A

19.67

9.25

0.80

14.95

0

42

c.609G>A

c.609G>A

17.90

6.85

0.69

37.16

0

43

c.609G>A

c.658_660delAAG

21.60

11.48

0.87

6.22

0

44

c.609G>A

c.658_660delAAG

20.70

13.30

0.86

6.65

0

45

c.217C>T

–

4.10

0.72

0.10

0

0

46

c.658_660delAAG

–

4.40

1.46

0.15

0

0.16

47

c.658_660delAAG

–

4.37

0.40

0.09

0.91

0.08

48

c.609G>A

–

4.42

1.70

0.13

0

0

49

c.656_658delAGA

–

5.70

1.05

0.09

0

0.2

50

c.658_660delAAG

–

5.80

0.73

0.07

0

0

51

c.658_660delAAG

–

4.30

0.52

0.08

0

0

52

–

–

5.50

1.47

0.09

0

0

53

c.80A>G

–

5.50

0.97

0.16

0

0

54

c.609G>A

–

5.10

2.67

0.13

0

0

55

–

–

4.30

1.32

0.14

0

0

56

–

–

4.10

3.07

0.16

0

0

57

c.609G>A

–

4.20

2.99

0.08

0

0

58

–

–

5.80

1.15

0.11

0

0

59

–

–

1.55

0.55

0.08

1.44

0

60

–

–

2.60

0.60

0.11

1.06

0

61

c.609G>A

–

2.80

2.62

0.11

1.16

0

62

c.658_660delAAG

–

2.20

0.97

0.05

3.65

0

63

c.609G>A

–

2.00

1.02

0.09

0

0.56

Reference range

1.10–4.10

0.30–4.00

0.05–0.25

0.00–1.00

0.00–0.50