Table 1 The reported DSP variant associated with ALVC and their related phenotypes

1

c.7113_7119delGATCGCA

p.I2372Pfs*17

-

35

D

0/1

1/1

(Mild)

0/1

1/1

0/1

0/1

-

-

[24]

2

c.2521_2522delCA

p.Q841Dfs*9

-

33

D

2/3

1/2

(Mild)

0/2

3/3

1/2

(NSVT)

0/3

-

-

[25]

3

c.2034insA

p.T586fs*594

-

37

D

8/11

10/11

(Mild)

8/11

(Mild to moderate)

4/4

11/11

(PVC, SVT, LBBB, RBBB)

3/11

 + 

N/A

[26]

4

c.5596A > T

p.R1866X

rs1199138047

38

D

3/4

5/10

(Mild)

1/10

(Mild)

7/9

4/10

(RBBB, LBBB,SVT)

6/10

 + 

-

[17, 27]

5

c.448C > T

p.R150*

-

40

D

2/3

0/2

0/2

2/2

1/1

(PVC and RBBB)

0/3

 + 

-

[28]

6

c.3526deLG

p.V1176fs*20

rs727505271

27.4

D

0/1

1/1

(Severe)

0/1

1/1

1/1

(NSVT)

0/1

N/A

N/A

[28]

7

c.2920deLA

p.T974fs*3

rs727505260

33

D

0/1

0/1

1/1

(Mild)

1/1

1/1

0/1

N/A

N/A

[28]

8

c.3434deLC

p.A1145fs*14

rs1581815603

23.6

D

0/1

N/A

N/A

N/A

1/1

0/1

N/A

N/A

[28]

9

c.3924delG

p.H1309Tfs*40

-

32

D

2/3

0/3

0/3

2/2

2/3

(PVC)

N/A

 + 

N/A

[29]

10

c.1865delT

p.L622Rfs*14

-

33

D

1/1

1/1

(Moderate)

1/1

(Mild)

1/1

1/1

(NSVT)

N/A

 + 

N/A

[29]

11

c.1396C > T

p.L466F

-

25.8

D

1/2

1/1

(Moderate)

2/2

(Mild)

2/2

1/2

(NSVT)

N/A

-

N/A

[29]

12

c.2610delA

p.I870Mfs*19

-

34

D

1/1

1/1

(Severe)

1/1

(Mild)

1/1

1/1

(PVC)

N/A

 + 

N/A

[29]

13

c.3211C > T

p.Q1071*

-

40

D

1/1

0/1

0/1

1/1

1/1

(NSVT)

N/A

 + 

N/A

[29]

14

c.5212C > T

p.R1738*

rs794728124

36

D

1/1

1/1

(Mild)

0/1

1/1

1/1

(NSVT and RBBB)

1/1

-

-

[30]

15

c.4372C > T

p.R1458*

rs28763965

37

D

2/2

1/2

(Mild)

1/2

(Mild)

2/2

1/2

(NSVT)

0/3

-

-

[31]

16

c.3533T > G

p.L1178R

-

24.2

D

0/1

0/1

0/1

1/1

0/1

1/1

 + 

-

[32]

17

c.4788delA

p.E1596f + 5*

-

34

D

0/2

N/A

N/A

N/A

N/A

1/3

 + 

-

[33]

18

c.6310delA

p. T2104Qfs*12

rs730880092

34

D

10/12

11/12

(Mild to severe)

9/12

(Mild to severe)

4/4

5/12

(VT, RBB, LBBB)

6/12

 + 

-

[12]

19

c.1080G > A

p.W360*

-

39

D

1/2

1/2

(Mild)

1/2

(Mild)

N/A

1/2

(NSVT)

0/2

 + 

-

[34]

20

c.5428C > T

p.Q1810*

rs397516946

40

D

3/3

3/3

(Mild)

0/3

3/3

0/3

1/3

-

-

[35]

21

c.3889A > T

p.R1297W

rs1356287373

37

D

1/2

0/2

0/2

2/2

0/2

0/2

N/A

-

[36]

22

c.1067C > A

p. T356K

rs780626687

21

D

N/A

0/2

0/2

3/3

N/A

3/3

 + 

-

[37]

23

c.2811_2812dupAT

p.S938Yfs*

-

27

D

2/3

1/3

(Moderate)

0/3

1/1

1/3

(SVT)

1/3

-

Cutaneous phenotype

[38]

24

c.4789G > T

p. Q1597*

rs397516943

43

D

1/1

1/1

(Mild)

1/1

(Mild)

2/2

1/2

(SVT)

1/2

-

-

[39]

25

c.478 C > T

p. R160*

rs397516943

35

D

1/1

1/1

(Severe)

1/1

(Mild)

1/1

1/1

(SVT and RBBB)

1/1

-

Cutaneous phenotype

[18]

26

c.1267-2A > G

-

-

-

-

1/1

0/1

0/1

1/1

1/1

(NSVT)

0/1

-

-

[40]

27

c.218_219insAT

p.L74C

-

29

D

1/1

1/1

severe

1/1

severe

1/1

1/1

(SVT)

1/1

-

-

[40]

28

c.3082_3084 + 13del

-

-

-

-

1/1

1/1

(Mild)

0/1

1/1

0/1

N/A

-

-

[41]

29

c.3403C > T

p.Q1135*

-

37

D

1/1

0/1

0/1

1/1

0/1

N/A

-

-

[41]

30

c.2588T > C

p.L863P

rs1357944906

29.1

D

0/1

1/1

(Mild)

0/1

1/1

0/1

N/A

 + 

-

[41]

31

c.5028_5031delACAA

p.Q1677Lfs*3

-

33

D

1/1

1/1

(Mild)

0/1

1/1

0/1

N/A

 + 

-

[41]

32

c.1904-2A > G

-

-

-

-

1/1

1/1

(Mild)

1/1

(Mild)

1/1

1/1

(NSVT)

1/1

-

-

[42]

33

c.5851C > T

p.R1951*

37

D

1/1

1/1

(Mild)

1/1

(Mild)

1/1

1/1

(SVT)

1/1

 + 

-

[43]

34

c.8586delC

p. S2863Hfs*20

-

31

D

3/4

0/4

2/4

(Mild)

1/1

2/3

(SVT and PVC)

1/4

 + 

-

[44]

35

c.4513G > A

p.A1505T

rs1488770025

13.03

P

0/1

1/1

(Mild)

N/A

N/A

0/1

N/A

-

N/A

[45]

36

c.6697_6698delGT

p.V2233Qfs*2

-

33

D

0/1

1/1

(Severe)

1/1

1/1

1/1

(PVC)

1/1

-

-

[46]