Table 1 The SPEG variant sites reported so far with references

1

F

c.6697C > T;

Agrawal 2014 [10]

p.Gln2233*

2

F

c.4276C > T;

c.3709_3715 + 29del36;

Agrawal 2014 [10]

p.Arg1426*

p.Thr1237fs

3

F

c.2915_2916delCCinsA;

c.8270G > T;

Agrawal 2014 [10]

p.Ala972fs

p.Gly2757Val

4

M

c.1627-1628insA;

Wang 2017 [14]

p.Thr544fs

5

M

c.9586C > T;

Wang 2017 [14]

p.Arg3196*

6

M

c.7119C > A;

Wang 2018 [15]

p.Tyr2373*

7

F

c.1071_1074dup;

c.4399C > T;

Lornage 2018 [16]

p.Lys359fs

p.Arg1467*

8

M

c.9185_9187delTGG;

Qualls 2019 [17]

p.Val3062del

9

F

c.2183delT;

c.8962_8963ins25;

Qualls 2019 [17]

p.Leu728fs

p.Val2997fs

10

F

c.8710A > G; p.

Tang 2019 [18]

Thr2904Ala

11

F

c.3715 + 4C > T;

c.3588delC;

This study

p.D1196fs