Location

Base change

Protein change

Mutation

Reference

Exon 2

c.11delT

p.(Leu4fs)

Frameshift

[17]

Exon 2

c.19_20delAG

p.(Leu7fs)

Frameshift

[18]

Exon 2

c.31_39delCTCCACGTC

p.(Leu11fs)

Frameshift

[19]

Exon 2

c.65C>T

p.(Ser22Phe)

Missense

[14]

Intron 2

c.78+1G>T

Splicing

[20]

Intron 2

c.78+5G>A

Splicing

[21]

Intron 2

c.79-13T>A

? p.(Gln27fs)

Splicing/Frameshift

This study

Exon 3

c.88G>A

p.(Val30Met)

Missense

[22]

Intron 3

c.178+1G>C

Splicing

[23]

Intron 3

c.179-1G>C

Splicing

[24]

Exon 4

c.183G>A

p.(Trp61Ter)

Termination

[25]

Exon 4

c.183G>A

p.(Trp61Ter)

Termination

[26]

Exon 4

c.199G>A

p.(Ala67Thr)

Missense

[27]

Exon 4

c.227delG

p.(Ser76fs)

Frameshift

[28]

Exon 4

c.281_282insG

p.(Gly94fs)

Frameshift

[29]

Exon 4

c.281_282insG

p.(Gly94fs)

Frameshift

[30]

Exon 4

c.289delT

p.(Tyr97fs)

Frameshift

[31]

Exon 4

c.297delT

p.(Gly100fs)

Frameshift

[32]

Intron 4

c.320-1G>C

Splicing

[21]

Intron 4/ Exon 5

c.320-1_320delGGinsTA

Splicing

This study

Exon 5

c.320G>T

p.(Gly107Val)

Missense

[33]

Exon 5

c.328G>A

p.(Val110Met)

Missense

This study

Exon 5

c.353C>T

p.(Thr118Met)

Missense

[34]

Exon 5

c.353C>T

p.(Thr118Met)

Missense

[35]

Exon 5

c.353C>T

p.(Thr118Met)

Missense

This study

Exon 5

c.353C>T

p.(Thr118Met)

Missense

This study

Exon 5

c.364_365delCC

p.(Pro122fs)

Frameshift

[36]

Exon 5

c.372G>A

p.(Trp124Ter)

Termination

[37]

Exon 5

c.372G>A

p.(Trp124Ter)

Termination

[38]

Exon 5

c.392C>G

p.(Ser131Cys)

Missense

This study

Exon 5

c.395A>G

p.(Tyr132Cys)

Missense

This study

Exon 5

c.419G>A

p.(Trp140Ter)

Termination

[21]

Exon 5

c.433_434insC

p.(Leu145fs)

Frameshift

[39]

Exon 5

c.434delT

p.(Leu145fs)

Frameshift

This study

Exon 5

c.434delT

p.(Leu145fs)

Frameshift

[40]

Exon 5

c.469C>T

p.(Arg157Trp)

Missense

This study

Exon 5

c.475C>T

p.(Arg159Cys)

Missense

[41]