Table 4 Summary of gene variant points

c.2047A > G

p.I683V

China[our case]

c.944C > G

p.Ser315X

France [9], France-Asia [4]

c.2107_2108 insAGG

p.Q703delinsQE

China[our case]

c.643G > T

p.E215X

Arab [6]

c.2295-866_2410-30del

p.Glu766_Ser838del

France [9], Belgium [4], United Kingdom [4, 18], Germany [4], Ireland [19], Austria [14], Italy [18]

c.2398C > T

p.R800X

France [6]

c.1162C > T

p.Arg388X

France [9], France-Asia [4], North Africa [4], Palestine [6], China [16], Jordan [13]

c.297 + 2 T > C

NM

Mauritania、France [6]

NM

p.Asn417LysfsX22

France [10]

c.1949_1967dupGTGTCACCACGCAGTACCA

p.Gly657CysfsX12

China [15]

NM

p.Cys30LeufsX3

France [10]

c.2410G > C

p.Asp804His

China [15]、United Kingdom [17]

c.192 + 2 T > C

p.Cys30LeufsX3

Mauritania [4]

C.942C > A

p.Cys314X

Ireland [19]

c.2401C > T

p.Arg801X

France [4]

c.1904 T > C

p.Leu635Pro

America [11]

c.1441 + 2 T > C

p.Asn417LysfsX22

France [4]

NM

E766-S838_del

America [11]

c.377_380dup

p.Met128GlnfsX45

France [4]

c.2428C > T

p.Arg810Cys

China [16]

c.2513 + 1G > A

p.Asp804ValfsX6

Egypt [4]

c.1255_1256dupGA

p.Asp419fs

Austria [14]

c.921delT

p.Gln308ArgfsX36

United Kingdom [4]

c.394_409del

p.Asp132fs

Austria [14]

c.946_952del

p.Asp316LeufsX26

Germany [4]

c.2174G > A

p.Arg725His

Jordan [13]

c.1259delC

p.Pro420LeufsX39

France [4]

c.2395G > C

p.Gly799Arg

Jordan [13]

c.2513 + 1G > A

p.Asp804ValfsX6

France [4]

c.1684G > T

p.Glu562X

Sri Lanka [22]

c.2253_2254del

p.Leu752AlafsX17

Germany [4]

NM

p.Arg61X

NM [23]

c.57C > A

p.Tyr19X

Germany [4]

NM

p.Asp170X

NM [23]

c.2142-2A > G

NM

Portugal [21]

NM

p.Ala227GlyfsX2

NM [23]

c.1381delC

p.Leu461SerfsX47

Canada [20]

NM

p.Glu477X

NM [23]