Table 2 Type and frequency of GAA variants of the patients

Missense

c.655G>A

p.Gly219Arg

Exon 3

1/36

c.854C>G

p.Pro285Arg

Exon 4

1/36

c.875A>G

p.Tyr292Cys

Exon 5

1/36

c.925G>A

p.Gly309Arg

Exon 5

1/36

c.1328A>T

p.Asp443Val

Exon 9

2/36

c.1655T>C

p.Leu552Pro

Exon 12

1/36

c.1831G>A

p.Gly611Ser

Exon 13

1/36

c.2104C>T

p.Arg702Cys

Exon 13

1/36

c.2065G>A

p.Glu689Lys

Exon 15

1/36

c.2237G>C

p.Trp746Ser

Exon 16

1/36

Nonsense

c.2819C>A

p.Ser940Ter

Exon 20

1/36

Deletion or insertion

c.236_246del

p.Pro79fsArgfs*13

Exon 2

3/36

c.281_282delCT

Pro94Argfs*51

Exon 2

1/36

c.1396_1397insG

p.Val466fs*39

Exon 9

2/36

Splicing variant

c.-32-13T>C

–

Intron 1

17/36

c.1889-1G>A

–

Intron 13

1/36