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Table 2 Mutation analysis of the WFS1 gene

From: Phenotypic characteristics of early Wolfram syndrome

Subject Allele 1 Allele 2
WU.WOLF-01 c.1060-1062delTTC; p.F354del c.2663C>A; p.S888X
WU.WOLF-02 fc.2648del4; p.F883fsX950 No mutation
WU.WOLF-03 c.1230-1233delCTCT; p.Val412fs440Stop c.1243-1245delGTC: p.Val415del
WU.WOLF-04 c.1112G>A; p.W371X c.1885C>T; p.R629W
WU.WOLF-05 c.937C>T; p.H313Y No mutation
WU.WOLF-07 c.2002C>T; p.Q668X c.2002C>T; p.Q668X
WU.WOLF-09 c.376G>A; p.A126T c.1838G>A;p.W613X
WU.WOLF-10 c.376G>A; p.A126T c.1838G>A;p.W613X
WU.WOLF-11 c.376G>A; p.A126T c.1838G>A;p.W613X
WU.WOLF-12 c.320G>A; p.G107E c.1882C>T; p.R629W
WU.WOLF-13 c.599delT; p.L200fs286Stop c.2254G>T; pE752Stop
WU.WOLF-14 c.817G>T; p.E273X c.1839G>A; p.W613X
WU.WOLF-15 c.439delC, p.R147fsX163 c.1620G>A, p.W540X
WU.WOLF-16 c.1240_1242delTTC; p.F414del c.1689_1694delCTTCTT; p.F564del; p.L565del
WU.WOLF-17 c.599T>C; p.L200P c.695G>C; p.R232P
WU.WOLF-18 c.1251_1252delCTinsG; p.Phe417Leufsx25 c.1885C>T; p.Arg629Trp
WU.WOLF-19 c.2339G>C, p.Gly780Ala c.2452C>T, p.Arg818Cys
WU.WOLF-22 c.605A>G; p.E202G c.631G>A; p.D211N