Table 1 Patient characteristics and markers of liver injury

1

1

M

PMM2-CDG

c.44G > C; c.422G > A

p.Gly15Ala; p.Arg141His

15–145

10–147

172–301

2

1

M

PMM2-CDG

c.357C > A; c.422G > A

p.Phe119Leu; p.Arg141His

103–571

93–829

172–304

3

2

M

PMM2-CDG

c.357C > A; c.422G > A

p.Phe119Leu; p.Arg141His

53–1595

54–1222

222–464

4

3

M

PMM2-CDG

c.422G > A; c.691G > A

p.Arg141His; p.Val231Met

48–66

54–57

173–182

5

5

M

PMM2-CDG

c.422G > A; c.548 T > C

p.Arg141His; p.Phe183Ser

34–41

23

186

6

5

F

PMM2-CDG

c.338C > T; c.710C > G

p.Phe113Leu; p.Thr234Arg

8–745

13–678

17–283

7

6

M

PMM2-CDG

c.357C > A; c.422G > A

p.Phe119Leu; p.Arg141His

25–1366

25–1986

115–1083

8

6

F

PMM2-CDG

c.415G > A; c.422G > A

p.Glu139Lys; p.Arg141His

19–31

31–48

157–250

9

6

M

PMM2-CDG

c.338C > T; c.422G > A

p.Pro113Leu; p.Asp148Asn

32–2524

26–4789

60–292

10

6

M

PMM2-CDG

c.422G > A; c.647A > T

p.Arg141His; p.Asn216Ile

37–71

45–69

104–155

11

7

F

PMM2-CDG

c.563A > G; c.691G > A

p.Asp188Gly; p.Val231Met

38–556

31–457

228–299

12

7

M

PMM2-CDG

c.205C > T;c.422G > A

p.Pro69Ser; p.Asp148Asn

28

42

225–242

13

8

M

PMM2-CDG

c.98A > C; c.140C > T

p.Gln33Pro; p.Ser47Leu

15–20

29–34

139–149

14

11

M

PMM2-CDG

c.422G > A; c.722G > C

p.Arg141His; p.Cys241Ser

17–18

25–26

154–172

15

12

M

PMM2-CDG

c.470 T > C; c.710C > T

p.Phe157Ser; p.Thr237Met

44–68

46–58

187–240

16

15

M

PMM2-CDG

c.422G > A; c.458 T > C

p.Arg141His; p.Ile153Thr

30–117

30–244

94–215

17

23

M

PMM2-CDG

c.26G > A; c.442G > A

p.Cys9Tyr; p.Asp148Asn

19–25

21–27

61–75

18

27

M

PMM2-CDG

c.357C > A; c.422G > A

p.Phe119Leu; p.Arg141His

19

33

F

PMM2-CDG

c.357C > A; c.357C > A

p.Phe119Leu; p.Phe119Leu

14–164

21–327

44–48

20

31

M

ALG12-CDG

c.671C > T; c.1001delA

p.Thr224Met; p.Asn334ThrfsX15

18

23

61

21

46

M

ALG12-CDG

c.671C > T; c.1001delA

p.Thr224Met; p.Asn334ThrfsX15

15

22

121

22

1

F

ALG13-CDG

c.320A > G

p.Asn107Ser

10–18

40–49

102–165

23

4

F

ALG13-CDG

c.320A > G

p.Asn107Ser

17–49

28–51

118–405

24

59

M

DHDDS-CDG

c.124A > G; c.124A > G

p.Lys42Glu; p.Lys42Glu

25–27

37–38

77–82

25

63

F

DHDDS-CDG

c.124A > G; c.124A > G

p.Lys42Glu; p.Lys42Glu

20–27

28–33

69–82

26

2

M

PGM1-CDG

c.265G > A; c.988G > C

p.Gly89Arg; p.Gly330Arg

25

122

168

27

27

F

PGM1-CDG

c.206 T > C; c.313A > T

p.Met67Arg; p.Lys105X

26–61

46–236

53–61

28

1

F

SLC35A2-CDG

c.340A > T

p.Lys114X

8–35

33–78

83–235

29

12

F

SLC35A2-CDG

c.815G > A

p.Trp272X

12–87

17–61

147–177

30

21

F

ALG6-CDG

c.998C > T

p.Ala333Val

12–50

17–51

81–275

31

8

M

ALG8-CDG

c.584 T > C; c.1334 T > C

p.Leu195Pro; p.Leu445Pro

20–165

14–148

73–275

32

65

F

DDOST-CDG

c.20C > G; c.1325 T > A

p.Ala7Gly; p.Phe442Tyr

16–33

13–21

66–123

33

6

M

MPI-CDG

c.488-1G > C; c.656G > A

IVS4-1G > C; p.Arg219Gln

141–237

69–90

141–210

34

3

M

CCDC115-CDG

c.92 T > C; c.92 T > C

p.Leu31Ser; p.Leu31Ser

117–204

129–319

1071–1459

35

11

M

SLC10A7-CDG

Whole gene deletion (biallelic)

23

50–56

161–203

36

12

F

SLC35C1-CDG

c.503_505delTCT; c.942C > G

p.Phe168del; p.Tyr314X

17–29

19–29

211–273

37

2

M

SLC39A8-CDG

c.802C > T; c.802C > T

p.His268Tyr; p.His268Tyr

19–23

40–45

200–233

38

14

M

TMEM165-CDG

c.151C > T; c.725C > A

p.Gln51X; p.Thr242Lys

51–60

252–309

158–219

39

42

M

VMA21-CDG

c.52A > G

p.Arg18Gly*

24–48

39–62

113–160