Table 2 TOP 5 variants in patients with GSD type Ia, Ib, III, VI, and IX
Genotypes | Total | Top nucleotide change allele (n, %) | Amino acid change allele | Variant type | Variant analysis method |
|---|---|---|---|---|---|
GSD-Ia | 128 | c.648G > T (48, 38%) | p.Leu216Leu | synonymous | Sequencing |
c.248G > A (15, 12%) | p.Arg83His | missense | Sequencing | ||
c.310 C > T (7, 5%) | p.Gln104X | nonsense | Sequencing | ||
c.262delG (6, 5%) | p.Val88fs | frameshift | Sequencing | ||
c.326G > A (6, 5%) | p.Cys109Tyr | missense | Sequencing | ||
GSD-Ib | 69 | c.446G > A (19, 28%) | p.Gly149Glu | missense | Sequencing |
c.572 C > T (8, 12%) | p.Pro191Leu | missense | Sequencing | ||
c.343G > A (4, 6%) | p.Gly115Arg | missense | Sequencing | ||
c.1179G > A (2, 3%) | p.Trp393X | nonsense | Sequencing | ||
c.1042_1043del (2, 3%) | p.Leu348Valfs*53 | Frameshift, nonsense | Sequencing | ||
GSD-III | 54 | c.1735 + 1G > T (8, 15%) | NA | splice | Sequencing |
c.3589–3 C > G (3, 6%) | NA | splice | Sequencing | ||
c.853 C > T (2, 4%) | p.Arg285X | nonsense | Sequencing | ||
c.2864del (1, 2%) | p.Pro955Leufs*6 | Frameshift, nonsense | Sequencing | ||
c.2856_2878del (1, 2%) | p.Leu952Phefs*9 | Frameshift, nonsense | Sequencing | ||
GSD-VI | 22 | c.2467 C > T (7, 32%) | p.Gln823X | nonsense | Sequencing |
c.698G + A (4, 18%) | p.Gly233Asp | missense | Sequencing | ||
c.1969 + 1G > A (2, 9%) | NA | splice | Sequencing | ||
c.1768 + 2T > C (2, 9%) | NA | splice | Sequencing | ||
c.1768 + 1G > A (2, 9%) | NA | splice | Sequencing | ||
GSD-IX | 42 | c.749Â C> T (3, 7%) | p.Ser250Leu | missense | Sequencing |
c.870_872delCTT (2, 5%) | p.Phe291del | deletion | Sequencing | ||
c.400_416dup17 (1, 2%) | p.Leu140Argfs*15 | Frameshift, nonsense | Sequencing | ||
c.545G > A (1, 2%) | p.Gly182Glu | missense | Sequencing | ||
c.1031 A > G (1, 2%) | p.Asp344Gly | missense | Sequencing |