Table 2 SLC37A4 mutation spectrum in 35 Chinese GSD type Ib patients

Exon 3

c.59G > A

p.G20D

Missense

1

Deleterious

1.0

Deleterious

0.96529

Yes

Pathogenic

Exon 3

c.82 C > T

p.R28C

Missense

2

Deleterious

1.0

Deleterious

0.90808

Yes

Pathogenic

Exon 3

c.123_124dupGA ^b

p.I42RfsX34

Small insertion

1

Deleterious

-

-

-

Novel

Pathogenic

Exon 4

c.343G > A

p.G115R

Missense

2

Deleterious

1.0

Deleterious

0.94388

Yes

Pathogenic

Exon 4

c.359delC ^b

p.P120HfsX26

Small deletion

1

Deleterious

-

-

-

Novel

Pathogenic

Exon 4

c.359dupC

p.C121MfsX10

Small insertion

1

Deleterious

-

-

-

Yes

Pathogenic

Exon 5

c.446G > A

p.G149E

Missense

45

Deleterious

0.986

Deleterious

0.95607

Yes

Pathogenic

Exon 5

c.454G > C ^b

p.G152R

Missense

1

Deleterious

0.728

Deleterious

0.96517

Novel

Pathogenic

Exon 5

c.572 C > T

p.P191L

Missense

4

Deleterious

0.997

Deleterious

0.97977

Yes

Pathogenic

Intron 7

c.870 + 3delG ^b

-

Splicing

1

Deleterious

-

-

-

Novel

Pathogenic

Intron 7

c.870 + 5G > A

-

Splicing

2

Deleterious

-

-

0.96945

Yes

Pathogenic

Exon 8

c.898 C > T

p.R300C

Missense

1

Deleterious

1.0

Deleterious

0.99020

Yes

Pathogenic

Exon 8

c.959dupT

p.T321NfsX5

Small insertion

1

Deleterious

-

-

-

Yes

Pathogenic

Exon 10

c.1042_1043delCT

p.L348VfsX53

Small deletion

2

Deleterious

-

-

-

Yes

Pathogenic

Exon 10

c.1063G > T

p.E355X

Nonsense

1

Deleterious

-

Deleterious

0.97729

Yes

Pathogenic

Exon 10

c.1117G > A ^b

p.A373T

Missense

1

Deleterious

0.989

Deleterious

0.97945

Novel

Pathogenic

Intron 10

c.1123 + 1G > T

-

Splicing

1

Deleterious

-

-

0.98521

Yes

Pathogenic

Exon 11

c.1210delT ^b

p.C404VfsX

(Prolonged)

Small deletion

1

Deleterious

-

-

-

Novel

Pathogenic

Exon5-11

Exon5-11 del ^b (g.382-1356del)

-

Gross deletion

1

-

-

-

-

Novel

Pathogenic