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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