Table 4 GCDH mutations in the GA1 patients from Fujian province

c.1244-2 A > C

p.(?)

Intron 10

Splice

P

45

63.38

c.339delT

p.Thr113*

Exon 4

Nonsense

P

1

1.41

c.406G > T

p.Gly136Cys

Exon 5

Missense

LP

3

4.22

c.1261G > A

p.Ala421Thr

Exon 11

Missense

LP

4

5.63

c.395G > T

p.Arg132Ile

Exon 5

Missense

LP

1

1.41

c.1147 C > T

p.Arg383Cys

Exon 10

Missense

P

2

2.82

c.533G > A

p.Gly179Gly

Exon 6

Synonymous

LP

2

2.82

c.755G > A

p.Gly252Ala

Exon 8

Missense

P/LP

2

2.82

c.1169G > A

p.Gly390Glu

Exon 11

Missense

P

1

1.41

c.532G > A

p.Gly178Ala

Exon 6

Missense

P

1

1.41

c.395G > A

p.Ala132Gly

Exon 5

Missense

LP

1

1.41

c.108_109delAC

p.Gln37Glufs*5

Exon 2

Nonsense

P

1

1.41

c.1016T > C

p.Met339Thr

Exon 9

Missense

VUS

1

1.41

c.300G > A

p.Met100Ile

Exon 4

Missense

LP

1

1.41

c.1204 C > T

p.Ala402Thr

Exon 11

Missense

P

1

1.41

c.1063 C > T

p.Ala355Cys

Exon 10

Missense

P

1

1.41

c.1286 C > T

p.Thr429Met

Exon 11

Missense

LP

1

1.41

c.881G > T

p.Arg294Gln

Exon 8

Missense

LP

1

1.41

c.769 C > T

p.Ala257Thr

Exon 8

Missense

LP

1

1.41