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Table 3 Table caption

From: Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

 PatientsP1, P2 and P3P4P5-1 & P5-2
Variant DefinitionVarian name
Protein Change
c.1042_1043delCT
p.Leu348Valfs*53
c.365G>A
G122E
g.118895235_118901946del6712
Chromosome Position (GRCh37)
Zygosity
Chr11 :118895981_118895982
Homozygote
Chr11: 118898920
Homozygote
Chr11: 118895235 to chr11: 118901946
Homozygote
In-silico Predictive ToolsCADD (Phred Score)
DANN
Polyphen-2
PROVEAN
35(Deleterious)
-
-
-
27.4 (Deleterious)
0.82 (Deleterious)
0.958 (PROBABLYDAMAGING)
2.66 (Deleterious)
-
-
-
-
Population/Disease Databases1000 GP
ExAC
GenomAD
ESP
HGMD
Clinvar
-
0.00023
0.00018
0.0003
CD982664
VCV000006926
-
-
-
-
-
-
-
-
-
-
-
-