Table 2 Unique variant statistics and recurring variants of the 13 IEMs genes

ACADM

48

43 (89.58)

c.449_452del

p.(Thr150ArgfsTer4)

37 (28.46)

c.1085G > A

p.(Gly362Glu)

10 (7.69)

c.387 + 1del

-

6 (4.62)

c.580 A > G

p.(Asn194Asp)

6 (4.62)

c.157 C > T

p.(Arg53Cys)

3 (2.31)

c.727 C > T

p.(Arg243Ter)

3 (2.31)

c.985 A > G

p.(Lys329Glu)

3 (2.31)

c.1040G > T

p.(Gly347Val)

3 (2.31)

ACADVL

94

67 (71.28)

c.1349G > A

p.(Arg450His)

21 (12.50)

c.553G > A

p.(Gly185Ser)

7 (4.17)

c.664G > C

p.(Gly222Arg)

5 (2.98)

c.1280G > A

p.(Trp427Ter)

5 (2.98)

c.1532G > A

p.(Arg511Gln)

5 (2.98)

c.65 C > A

p.(Ser22Ter)

4 (2.38)

c.298_299del

p.(Gln100ValfsTer3)

4 (2.38)

c.1077 + 6T > A

-

3 (1.79)

c.1276G > A

p.(Ala426Thr)

3 (1.79)

c.1396G > T

p.(Asp466Tyr)

3 (1.79)

c.1505T > A

p.(Leu502Gln)

3 (1.79)

ACAT1

32

29 (90.63)

c.622 C > T

p.(Arg208Ter)

5 (10.00)

c.121-3 C > G

-

4 (8.00)

c.1006-1G > C

-

4 (8.00)

c.1124 A > G

p.(Asn375Ser)

4 (8.00)

c.997G > C

p.(Ala333Pro)

3 (6.00)

ASS1

31

26 (83.87)

c.1087 C > T

p.(Arg363Trp)

5 (10.42)

c.380G > A

p.(Arg127Gln)

3 (6.25)

c.431 C > G

p.(Pro144Arg)

3 (6.25)

c.1168G > A

p.(Gly390Arg)

3 (6.25)

BCKDHA

40

34 (85.00)

c.117dup

p.(Arg40GlnfsTer11)

3 (5.17)

c.647 C > T

p.(Ala216Val)

3 (5.17)

BCKDHB

54

46 (85.19)

c.331 C > T

p.(Arg111Ter)

5 (5.32)

c.550del

p.(Ser184ProfsTer46)

5 (5.32)

c.853 C > T

p.(Arg285Ter)

5 (5.32)

c.93_103dup

p.(Phe35TrpfsTer41)

3 (3.19)

c.508 C > T

p.(Arg170Cys)

3 (3.19)

c.523T > C

p.(Phe175Leu)

3 (3.19)

c.659del

p.(Gln220ArgfsTer10)

3 (3.19)

c.1028del

p.(Ser343LeufsTer9)

3 (3.19)

BTD

26

25 (96.15)

c.1433dup

p.(Leu478PhefsTer13)

6 (13.04)

c.577del

p.(His193ThrfsTer51)

5 (10.87)

c.1324del

p.(Arg442GlyfsTer39)

4 (8.70)

c.175 C > T

p.(Arg59Cys)

3 (6.52)

c.1190_1191delinsAG

p.(Val397Glu)

3 (6.52)

CPS1

38

35 (92.11)

c.1145 C > T

p.(Pro382Leu)

4 (8.70)

c.3443T > A

p.(Met1148Lys)

3 (6.52)

GCDH

77

72 (93.51)

c.1244-2 A > C

-

51 (26.84)

c.532G > A

p.(Gly178Arg)

7 (3.68)

c.1064G > A

p.(Arg355His)

5 (2.63)

c.533G > A

p.(Gly178Glu)

5 (2.63)

c.148T > C

p.(Trp50Arg)

4 (2.11)

c.406G > T

p.(Gly136Cys)

4 (2.11)

c.892G > A

p.(Ala298Thr)

4 (2.11)

c.1147 C > T

p.(Arg383Cys)

4 (2.11)

c.1204 C > T

p.(Arg402Trp)

4 (2.11)

c.1207 C > T

p.(His403Tyr)

4 (2.11)

c.1261G > A

p.(Ala421Thr)

4 (2.11)

c.109_110del

p.(Gln37GlufsTer5)

3 (1.58)

c.263G > A

p.(Arg88His)

3 (1.58)

c.395G > A

p.(Arg132Gln)

3 (1.58)

c.413G > A

p.(Arg138Lys)

3 (1.58)

c.416 C > G

p.(Ser139Trp)

3 (1.58)

c.1205G > A

p.(Arg402Gln)

3 (1.58)

HLCS

20

15 (75.00)

c.1522 C > T

p.(Arg508Trp)

31 (45.59)

c.1088T > A

p.(Val363Asp)

10 (14.71)

c.782del

p.(Gly261ValfsTer20)

3 (4.41)

c.1544G > A

p.(Ser515Asn)

3 (4.41)

IVD

51

36 (70.79)

c.1199 A > G

p.(Tyr400Cys)

17 (17.00)

c.149G > A

p.(Arg50His)

8 (8.00)

c.205G > A

p.(Asp69Asn)

4 (4.00)

c.467G > C

p.(Gly156Ala)

4 (4.00)

c.631 A > G

p.(Thr211Ala)

4 (4.00)

c.350G > A

p.(Arg117Gln)

3 (3.00)

c.1186G > C

p.(Asp396His)

3 (3.00)

PCCA

37

31 (83.78)

c.2002G > A

p.(Gly668Arg)

12 (17.65)

c.229 C > T

p.(Arg77Trp)

6 (8.82)

c.1288 C > T

p.(Arg430Ter)

4 (5.88)

c.1118T > A

p.(Met373Lys)

3 (4.41)

PCCB

33

25 (75.76)

c.1301 C > T

p.(Ala434Val)

11 (13.41)

c.838dup

p.(Leu280ProfsTer11)

10 (12.2)

c.1087T > C

p.(Ser363Pro)

7 (8.54)

c.167_179delinsC

p.(Asp56_Lys60delinsAla)

6 (7.32)

c.1316 A > G

p.(Tyr439Cys)

4 (4.88)

c.-4156_184-1585del

-

3 (3.66)