Exon Polymorphism RefSNP accession ID Nucleotide change Type of Polymorphism Amminoacid change State
8 rs1801206CT c.1185T>C Synonymous V395V Heterozygous
8 rs1801208GA c.1367G>A Non-Synonymous R456H Heterozygous
8 rs1801214TT c.1500T>C Synonymous N500N Homozygous
8 rs734312GA c.1998A>G Non-Synonymous H611R Heterozygous
8 rs1046314AA c.2433G>A Synonymous K811K Homozygous
8 rs1046316AG c.2565G>A Synonymous S855S Homozygous
Table 1B: Polymorphisms in Proband’s WFS1.