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Table 2 List of reported MUTYH variants

From: Base excision repair and the role of MUTYH

Type of mutation Name of mutation/variant References
Nonsense R83X [106]
  Y90X [107]
  E182X [108]
  Q196X  
  R233X  
  Q300X [108]
  E466X [109]
Insertions/deletions 199delGT  
  252delG  
  263insAG  
  379delC  
  817delG  
  1059insC  
  1103–1105delC  
  1186–1187insGG  
  1419delC  
Splice IVS1(36)+1G>A [110]
  IVS1(36)+5G.C [111]
  IVS4(347)-1G>C  
  IVS4(347)-1G>A  
  IVS5(421)-1G>C  
  IVS8(649)-1G>A  
  IVS10(891)+3A>C  
  IVS10(892)-2A>G [112]
  IVS12(1145)-2A>G  
  IVS13(1281)+25del30 [108]
  IVS15(1476)+2T>C  
Missense and inframe ins/dels M15V  
  P18L [113]
  V22M [114]
  G25D [113]
  V61E [115]
  D91N [116]
  Y114H  
  W117R  
  137insIW  
  P143L  
  D147H  
  Y165C  
  Y166S  
  R168H  
  R168L  
  R68C  
  R171Q  
  G175E  
  I209V  
  V220M  
  R227W  
  R231C  
  R231H  
  V232F  
  R260Q  
  R260W  
  M269V  
  C276W  
  P281L  
  R295C  
  Q324H [114]
  Q324R  
  F344Y  
  P345T  
  P366T [116]
  L374P  
  G382D  
  P391S  
  P391L  
  Q400R  
  A405T  
  L406M  
  R412C  
  R423P [117]
  R423Q [117]
  R423R [117]
  A459D  
  A459T  
  1391delAGG  
  1395delGGA (466delE)  
  V479F  
  Q484H  
  S501F [114]
  P502L