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Copyright ©2007 Baishideng Publishing Group Co.
World J Gastroenterol. May 21, 2007; 13(19): 2727-2732
Published online May 21, 2007. doi: 10.3748/wjg.v13.i19.2727
Table 1 Characteristics of carrier families and Hungarian MMR gene mutations
ProbandIDProbandphenotype1Familyphenotype2GeneExonNucleotide position ofthe mutationEffect/Consequence of themutation
HFC003C25AI:9C, 1EMLH12c.187G>Ap.D63N
HFC077C53AI:3C, 1SMLH116c.1852_1854delp.K618del
HFC100C39AI:5C, 3S, 1EMLH118-19c.2078_2172delp.E693_K724delAfsX8
HFC075C33AI:3CMSH21-2c.1-?_c.366+?delno protein?
HFC048C31AI:6CMSH23-7c.367-?_c.1226+?deldeletion of exons 3-7
HFC066C22AI:6C, 1SMSH24c.759_762delp.M253_N254delIfsX20
HFC108C30AI:5C, 1EMSH27c.1226_1227delp.Q409RfsX7
HFC014C29AI:3CMSH210c.1661+1G>Tsplice defect?
HFC021C47AI:3CMSH213c.2131C>Tp.R711X
HFC050C36AII:2C, 1IMLH18c.677G>Ap.R226Q
HFC045C19AII:2C, 1EMLH113c.1489_1490insCp.R497fsX6
HFE063E47AII:1C, 2EMLH116c.1875T>Gp.Y625X
MPX050C36AII:2C, 2S, 1E, 1IMLH119c.2141G>Ap.W714X
HFC017C27AII:3C, 3EMSH212c.1861C>Tp.R621X
HFC072C35SH:1CMLH113c.1411_1414delp.K471_R472delDfsX19
HFC104C39SH:2CMLH116c.1852_1853delinsGCp.K618A
HFC078C53SH:1CMSH21c.146A>Tp.D49V
HFC074C45, 50, 55SH:4CMSH215c.2620_2621ins115p.Y874CfsX3