Table 2 The detected ACAT1 variants and their frequencies in Chinese patients

1

c.622C > T (p.R208*)

Exon 7

10

P

CM102337

Fukao et al. [27] and Nguyen et al. [11]

2

c.1006-1G > C

Intron 10

5

P

CS920725

Fukao et al. [27] and Nguyen et al. [11]

3

c.1124A > G (p.N375S)

Exon 11

5

P

CS083860

Fukao et al. [29]

4

c.419 T > G (p.L140R)

Exon 5

4

NF

NF

Xu et al. [15]

5

c.997G > C (p.A333P)

Exon 10

4

P/LP

CM950009

Su et al. [13]

6

c.121-3C > G

Intron 2

3

VUS

NF

Su et al. [13]

7

c.653C > T (p.S218F)

Exon 7

3

LP

NF

Wen et al. [14]

8

c.72 + 1G > A

Intron 1

2

NF

NF

Xu et al. [15]

9

c.373G > T (p.V125F)

Exon 5

2

NF

NF

Xu et al. [15]

10

exon 6-12del

Exon 6

2

NF

NF

Xu et al. [15]

11

c.631C > A (p.Q211K)

Exon 7

2

NF

NF

This study

12

c.83_84del (p.Y28Cfs*38)

Exon 2

1

P

CD971964

Paquay et al. [8] and Su et al. [13]

13

c.163 T > A (p.F55I)

Exon 3

1

NF

CX102338

NR

14

c.229del (p.E77Kfs*10)

Exon 3

1

NF

NF

Xu et al. [15]

15

c.238 + 1G > A

Intron 3

1

NF

NF

Yang et al. [12]

16

c.354_355delinsG (p.C119Vfs*4)

Exon 5

1

P

NF

Law et al. [16]

17

c.401 T > C (p.M134T)

Exon 5

1

NF

NF

This study

18

c.481 T > C (p.Y161H)

Exon 6

1

NF

NF

This study

19

c.642 T > G (p.Y214*)

Exon 7

1

P

NF

NR

20

c.721dup (p.T241Nfs*14)

Exon 7

1

NF

NF

Yang et al. [12]

21

c.756_758del (p.E252del)

Exon 8

1

LP

CD076722

Sakurai et al. [3]

22

c.829A > C (p.T277P)

Exon 9

1

VUS

NF

Su et al. [13]

23

c.890C > A (p.T297K)

Exon 9

1

VUS/LP

CM950007

Su et al. [13]

24

c.928G > C (p.A310P)

Exon 9

1

NF

NF

Yang et al. [12]

25

c.1119dup (p.V374Sfs*86)

Exon 11

1

NF

NF

This study

26

c.1154A > T (p.H385L)

Exon 11

1

NF

NF

This study

27

c.1163G > T (p.G388V)

Exon 11

1

P

NF

Paquay et al. [18]