Table 2 Genetic analysis of 5 patients with glycogen storage diseases VI in our study

1

c.1768 + 1G > A

c.1820G > T

NA 

p.(Gly607Val)

Splicing

Missense

P

LP

2

c.198delG

c.1727G > A

p.(Arg67AlafsTer34)

p.(Arg576Gln)

Frameshift

Missense

P

LP

3

c.1334T > C

c.2084G > A

p.(Leu445Pro)

p.(Gly695Glu)

Missense

Missense

LP

LP

4

c.280 C > T

c.2483T > G

p.(Arg94Ter)

p.(Val828Gly)

Nonsense

Missense

P

LP

5

c.2446 C > T

c.472T > C

p.(Arg816Ter)

p.(Tyr158His)

Nonsense

Missense

P

LP