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. 2021 Apr 21;21:76. doi: 10.1186/s12902-021-00748-z

Table 2.

A summary of the found variants in all exons of WFS1 gene in this study

Region Nucleotide changes Amino acid changes Types of variation Status Subjects
Exon 5 c. 684 C > G No change Silent mutation All members
Exon 8 c. 997 G > A V333I Missense mutation polymorphism All members
Exon 8 c. 1185 C > T No change Silent mutation All members
Exon 8 c. 1500 C > T No change Silent mutation All members
Exon 8 c. 1832 G > A R611H Missense mutation polymorphism All members
Exon 8 c. 2067_2076 del 10 W690fsX706 Frameshift mutation Heterozygous (novel) I-2(mother), II-2 (patient)
Exon 8 c. 2433 G > A No change Silent mutation All members
Exon 8 c. 2565 A > G No change Silent mutation All members