Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
MUTYH p.Ala544GlufsTer24 (p.A544Efs*24), ENSG00000288208 c.*299delC
(
ENST00000488731.6,
ENST00000713751.1,
ENST00000355498.6,
ENST00000528013.6,
ENST00000412971.6,
ENST00000372104.5,
ENST00000456914.7,
ENST00000354383.10,
ENST00000672314.2,
ENST00000483127.2,
ENST00000372115.7,
ENST00000529984.5,
ENST00000372110.7,
ENST00000713750.1,
ENST00000710952.2,
ENST00000529892.6,
ENST00000372098.7,
ENST00000448481.5,
ENST00000672818.3,
ENST00000531105.5 )
MUTYH p.Thr485ProfsTer3 (p.T485Pfs*3), ENSG00000288208 p.Thr656ProfsTer3 (p.T656Pfs*3) ( ENST00000448481.5, ENST00000372098.7, ENST00000529892.6, ENST00000531105.5, ENST00000672818.3, ENST00000713750.1, ENST00000372110.7, ENST00000710952.2, ENST00000372104.5, ENST00000412971.6, ENST00000528013.6, ENST00000355498.6, ENST00000529984.5, ENST00000372115.7, ENST00000483127.2, ENST00000672314.2, ENST00000354383.10, ENST00000456914.7, ENST00000488731.6, ENST00000713751.1 )
MUTYH p.Glu477del (p.E477del), ENSG00000288208 p.Glu648del (p.E648del) ( ENST00000672818.3, ENST00000531105.5, ENST00000529892.6, ENST00000372098.7, ENST00000448481.5, ENST00000710952.2, ENST00000372110.7, ENST00000713750.1, ENST00000354383.10, ENST00000456914.7, ENST00000483127.2, ENST00000672314.2, ENST00000372115.7, ENST00000529984.5, ENST00000355498.6, ENST00000412971.6, ENST00000528013.6, ENST00000372104.5, ENST00000713751.1, ENST00000488731.6 )
MUTYH p.Ala382ProfsTer23 (p.A382Pfs*23), ENSG00000288208 p.Ala553ProfsTer23 (p.A553Pfs*23) ( ENST00000713751.1, ENST00000488731.6, ENST00000672314.2, ENST00000483127.2, ENST00000456914.7, ENST00000354383.10, ENST00000529984.5, ENST00000372115.7, ENST00000355498.6, ENST00000372104.5, ENST00000528013.6, ENST00000412971.6, ENST00000710952.2, ENST00000372110.7, ENST00000713750.1, ENST00000672818.3, ENST00000531105.5, ENST00000529892.6, ENST00000448481.5, ENST00000372098.7 )
MUTYH p.Ala544GlufsTer24 (p.A544Efs*24), ENSG00000288208 c.*299delC ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Thr485ProfsTer3 (p.T485Pfs*3), ENSG00000288208 p.Thr656ProfsTer3 (p.T656Pfs*3) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Glu477del (p.E477del), ENSG00000288208 p.Glu648del (p.E648del) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Ala382ProfsTer23 (p.A382Pfs*23), ENSG00000288208 p.Ala553ProfsTer23 (p.A553Pfs*23) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Glu477Ter (p.E477*), ENSG00000288208 p.Glu648Ter (p.E648*) ( ENST00000529892.6, ENST00000448481.5, ENST00000372098.7, ENST00000672818.3, ENST00000531105.5, ENST00000372110.7, ENST00000713750.1, ENST00000710952.2, ENST00000355498.6, ENST00000372104.5, ENST00000528013.6, ENST00000412971.6, ENST00000672314.2, ENST00000483127.2, ENST00000456914.7, ENST00000354383.10, ENST00000529984.5, ENST00000372115.7, ENST00000488731.6, ENST00000713751.1 )
MUTYH p.Ala470Asp (p.A470D), ENSG00000288208 p.Ala641Asp (p.A641D) ( ENST00000488731.6, ENST00000713751.1, ENST00000372104.5, ENST00000412971.6, ENST00000528013.6, ENST00000355498.6, ENST00000529984.5, ENST00000372115.7, ENST00000483127.2, ENST00000672314.2, ENST00000354383.10, ENST00000456914.7, ENST00000713750.1, ENST00000372110.7, ENST00000710952.2, ENST00000448481.5, ENST00000372098.7, ENST00000529892.6, ENST00000531105.5, ENST00000672818.3 )
MUTYH p.Pro402Leu (p.P402L), ENSG00000288208 p.Pro573Leu (p.P573L) ( ENST00000354383.10, ENST00000483127.2, ENST00000372104.5, ENST00000531105.5, ENST00000488731.6, ENST00000528013.6, ENST00000456914.7, ENST00000529984.5, ENST00000448481.5, ENST00000372115.7, ENST00000355498.6, ENST00000372098.7, ENST00000372110.7, ENST00000529892.6, ENST00000412971.6, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Gly393Asp (p.G393D), ENSG00000288208 p.Gly564Asp (p.G564D) ( ENST00000531105.5, ENST00000672818.3, ENST00000448481.5, ENST00000372098.7, ENST00000529892.6, ENST00000710952.2, ENST00000713750.1, ENST00000372110.7, ENST00000529984.5, ENST00000372115.7, ENST00000672314.2, ENST00000483127.2, ENST00000456914.7, ENST00000354383.10, ENST00000372104.5, ENST00000528013.6, ENST00000412971.6, ENST00000355498.6, ENST00000713751.1, ENST00000488731.6 )
MUTYH p.Ala370Val (p.A370V), ENSG00000288208 p.Ala541Val (p.A541V) ( ENST00000456914.7, ENST00000372115.7, ENST00000531105.5, ENST00000488731.6, ENST00000529984.5, ENST00000528013.6, ENST00000448481.5, ENST00000372104.5, ENST00000483127.2, ENST00000355498.6, ENST00000372098.7, ENST00000372110.7, ENST00000354383.10, ENST00000529892.6, ENST00000412971.6, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH c.925-2A>G, ENSG00000288208 c.1438-2A>G ( ENST00000488731.6, ENST00000448481.5, ENST00000529892.6, ENST00000528013.6, ENST00000529984.5, ENST00000531105.5, ENST00000372104.5, ENST00000483127.2, ENST00000372098.7, ENST00000412971.6, ENST00000355498.6, ENST00000372110.7, ENST00000354383.10, ENST00000456914.7, ENST00000372115.7, ENST00000710952.2, ENST00000713750.1, ENST00000672314.2, ENST00000672818.3, ENST00000713751.1 )
MUTYH c.924+3A>C, ENSG00000288208 c.1437+3A>C ( ENST00000713751.1, ENST00000488731.6, ENST00000372115.7, ENST00000529984.5, ENST00000456914.7, ENST00000354383.10, ENST00000672314.2, ENST00000483127.2, ENST00000528013.6, ENST00000412971.6, ENST00000372104.5, ENST00000355498.6, ENST00000710952.2, ENST00000713750.1, ENST00000372110.7, ENST00000531105.5, ENST00000672818.3, ENST00000372098.7, ENST00000448481.5, ENST00000529892.6 )
MUTYH p.Gly283Val (p.G283V), ENSG00000288208 p.Gly454Val (p.G454V) ( ENST00000710952.2, ENST00000713750.1, ENST00000372110.7, ENST00000531105.5, ENST00000672818.3, ENST00000448481.5, ENST00000372098.7, ENST00000529892.6, ENST00000713751.1, ENST00000488731.6, ENST00000529984.5, ENST00000372115.7, ENST00000672314.2, ENST00000483127.2, ENST00000456914.7, ENST00000354383.10, ENST00000372104.5, ENST00000528013.6, ENST00000412971.6, ENST00000355498.6 )
MUTYH p.Gly283Glu (p.G283E), ENSG00000288208 p.Gly454Glu (p.G454E) ( ENST00000355498.6, ENST00000372110.7, ENST00000412971.6, ENST00000354383.10, ENST00000372098.7, ENST00000372115.7, ENST00000488731.6, ENST00000529984.5, ENST00000528013.6, ENST00000448481.5, ENST00000456914.7, ENST00000529892.6, ENST00000372104.5, ENST00000531105.5, ENST00000483127.2, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg271Gln (p.R271Q), ENSG00000288208 p.Arg442Gln (p.R442Q) ( ENST00000372115.7, ENST00000531105.5, ENST00000354383.10, ENST00000372098.7, ENST00000412971.6, ENST00000456914.7, ENST00000355498.6, ENST00000372110.7, ENST00000448481.5, ENST00000372104.5, ENST00000483127.2, ENST00000529892.6, ENST00000528013.6, ENST00000529984.5, ENST00000488731.6, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Gln264Ter (p.Q264*), ENSG00000288208 p.Gln435Ter (p.Q435*) ( ENST00000372115.7, ENST00000531105.5, ENST00000529984.5, ENST00000528013.6, ENST00000488731.6, ENST00000372104.5, ENST00000483127.2, ENST00000354383.10, ENST00000529892.6, ENST00000412971.6, ENST00000456914.7, ENST00000372098.7, ENST00000355498.6, ENST00000372110.7, ENST00000448481.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Val243Phe (p.V243F), ENSG00000288208 p.Val414Phe (p.V414F) ( ENST00000448481.5, ENST00000372098.7, ENST00000529892.6, ENST00000531105.5, ENST00000672818.3, ENST00000713750.1, ENST00000372110.7, ENST00000710952.2, ENST00000372104.5, ENST00000412971.6, ENST00000528013.6, ENST00000355498.6, ENST00000529984.5, ENST00000372115.7, ENST00000483127.2, ENST00000672314.2, ENST00000354383.10, ENST00000456914.7, ENST00000488731.6, ENST00000713751.1 )
MUTYH p.Val243Ile (p.V243I), ENSG00000288208 p.Val414Ile (p.V414I) ( ENST00000488731.6, ENST00000713751.1, ENST00000355498.6, ENST00000372104.5, ENST00000528013.6, ENST00000412971.6, ENST00000672314.2, ENST00000483127.2, ENST00000456914.7, ENST00000354383.10, ENST00000529984.5, ENST00000372115.7, ENST00000372110.7, ENST00000713750.1, ENST00000710952.2, ENST00000529892.6, ENST00000448481.5, ENST00000372098.7, ENST00000672818.3, ENST00000531105.5 )
MUTYH p.Arg242His (p.R242H), ENSG00000288208 p.Arg413His (p.R413H) ( ENST00000456914.7, ENST00000372115.7, ENST00000355498.6, ENST00000372110.7, ENST00000448481.5, ENST00000354383.10, ENST00000372098.7, ENST00000412971.6, ENST00000372104.5, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529984.5, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1, ENST00000529892.6, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3 )
MUTYH p.Arg242Cys (p.R242C), ENSG00000288208 p.Arg413Cys (p.R413C) ( ENST00000354383.10, ENST00000529892.6, ENST00000412971.6, ENST00000355498.6, ENST00000372098.7, ENST00000448481.5, ENST00000372110.7, ENST00000372104.5, ENST00000483127.2, ENST00000531105.5, ENST00000488731.6, ENST00000528013.6, ENST00000529984.5, ENST00000456914.7, ENST00000372115.7, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg179Leu (p.R179L), ENSG00000288208 p.Arg350Leu (p.R350L) ( ENST00000354383.10, ENST00000456914.7, ENST00000483127.2, ENST00000672314.2, ENST00000372115.7, ENST00000529984.5, ENST00000355498.6, ENST00000412971.6, ENST00000528013.6, ENST00000372104.5, ENST00000713751.1, ENST00000488731.6, ENST00000672818.3, ENST00000531105.5, ENST00000529892.6, ENST00000372098.7, ENST00000448481.5, ENST00000710952.2, ENST00000372110.7, ENST00000713750.1 )
MUTYH p.Arg179His (p.R179H), ENSG00000288208 p.Arg350His (p.R350H) ( ENST00000672818.3, ENST00000531105.5, ENST00000529892.6, ENST00000448481.5, ENST00000372098.7, ENST00000710952.2, ENST00000372110.7, ENST00000713750.1, ENST00000672314.2, ENST00000483127.2, ENST00000456914.7, ENST00000354383.10, ENST00000529984.5, ENST00000372115.7, ENST00000355498.6, ENST00000372104.5, ENST00000528013.6, ENST00000412971.6, ENST00000713751.1, ENST00000488731.6 )
MUTYH p.Tyr176Cys (p.Y176C), ENSG00000288208 p.Tyr347Cys (p.Y347C) ( ENST00000372098.7, ENST00000448481.5, ENST00000529892.6, ENST00000531105.5, ENST00000672818.3, ENST00000713750.1, ENST00000372110.7, ENST00000710952.2, ENST00000528013.6, ENST00000412971.6, ENST00000372104.5, ENST00000355498.6, ENST00000372115.7, ENST00000529984.5, ENST00000456914.7, ENST00000354383.10, ENST00000672314.2, ENST00000483127.2, ENST00000488731.6, ENST00000713751.1 )
MUTYH c.495+2T>C, ENSG00000288208 c.1008+2T>C ( ENST00000488731.6, ENST00000713751.1, ENST00000528013.6, ENST00000412971.6, ENST00000372104.5, ENST00000355498.6, ENST00000372115.7, ENST00000529984.5, ENST00000456914.7, ENST00000354383.10, ENST00000672314.2, ENST00000483127.2, ENST00000713750.1, ENST00000372110.7, ENST00000710952.2, ENST00000372098.7, ENST00000448481.5, ENST00000529892.6, ENST00000531105.5, ENST00000672818.3 )
MUTYH p.Tyr101= (p.Y101=), ENSG00000288208 p.Tyr272= (p.Y272=) ( ENST00000672818.3, ENST00000531105.5, ENST00000529892.6, ENST00000448481.5, ENST00000372098.7, ENST00000710952.2, ENST00000372110.7, ENST00000713750.1, ENST00000483127.2, ENST00000672314.2, ENST00000354383.10, ENST00000456914.7, ENST00000529984.5, ENST00000372115.7, ENST00000355498.6, ENST00000372104.5, ENST00000412971.6, ENST00000528013.6, ENST00000713751.1, ENST00000488731.6 )
MUTYH p.Tyr101Ter (p.Y101*), ENSG00000288208 p.Tyr272Ter (p.Y272*) ( ENST00000355498.6, ENST00000412971.6, ENST00000528013.6, ENST00000372104.5, ENST00000354383.10, ENST00000456914.7, ENST00000483127.2, ENST00000672314.2, ENST00000372115.7, ENST00000529984.5, ENST00000488731.6, ENST00000713751.1, ENST00000529892.6, ENST00000372098.7, ENST00000448481.5, ENST00000672818.3, ENST00000531105.5, ENST00000372110.7, ENST00000713750.1, ENST00000710952.2 )
MUTYH p.Trp100Ter (p.W100*), ENSG00000288208 p.Trp271Ter (p.W271*) ( ENST00000372110.7, ENST00000713750.1, ENST00000710952.2, ENST00000529892.6, ENST00000448481.5, ENST00000372098.7, ENST00000672818.3, ENST00000531105.5, ENST00000488731.6, ENST00000713751.1, ENST00000355498.6, ENST00000372104.5, ENST00000412971.6, ENST00000528013.6, ENST00000483127.2, ENST00000672314.2, ENST00000354383.10, ENST00000456914.7, ENST00000529984.5, ENST00000372115.7 )
MUTYH p.Glu477Ter (p.E477*), ENSG00000288208 p.Glu648Ter (p.E648*) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Ala470Asp (p.A470D), ENSG00000288208 p.Ala641Asp (p.A641D) ( ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1, ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6 )
MUTYH p.Pro402Leu (p.P402L), ENSG00000288208 p.Pro573Leu (p.P573L) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Gly393Asp (p.G393D), ENSG00000288208 p.Gly564Asp (p.G564D) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Ala370Val (p.A370V), ENSG00000288208 p.Ala541Val (p.A541V) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH c.925-2A>G, ENSG00000288208 c.1438-2A>G ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH c.924+3A>C, ENSG00000288208 c.1437+3A>C ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Gly283Val (p.G283V), ENSG00000288208 p.Gly454Val (p.G454V) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Gly283Glu (p.G283E), ENSG00000288208 p.Gly454Glu (p.G454E) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg271Gln (p.R271Q), ENSG00000288208 p.Arg442Gln (p.R442Q) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Gln264Ter (p.Q264*), ENSG00000288208 p.Gln435Ter (p.Q435*) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Val243Phe (p.V243F), ENSG00000288208 p.Val414Phe (p.V414F) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Val243Ile (p.V243I), ENSG00000288208 p.Val414Ile (p.V414I) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg242His (p.R242H), ENSG00000288208 p.Arg413His (p.R413H) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg242Cys (p.R242C), ENSG00000288208 p.Arg413Cys (p.R413C) ( ENST00000448481.5, ENST00000456914.7, ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg179Leu (p.R179L), ENSG00000288208 p.Arg350Leu (p.R350L) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Arg179His (p.R179H), ENSG00000288208 p.Arg350His (p.R350H) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Tyr176Cys (p.Y176C), ENSG00000288208 p.Tyr347Cys (p.Y347C) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH c.495+2T>C, ENSG00000288208 c.1008+2T>C ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Tyr101= (p.Y101=), ENSG00000288208 p.Tyr272= (p.Y272=) ( ENST00000448481.5, ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Tyr101Ter (p.Y101*), ENSG00000288208 p.Tyr272Ter (p.Y272*) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Trp100Ter (p.W100*), ENSG00000288208 p.Trp271Ter (p.W271*) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Pro408GlyfsTer42 (p.P408Gfs*42), ENSG00000288208 p.Pro579GlyfsTer42 (p.P579Gfs*42)
MUTYH p.Pro408GlyfsTer42 (p.P408Gfs*42), ENSG00000288208 p.Pro579GlyfsTer42 (p.P579Gfs*42) - Associated Disease
- Colorectal Adenomatous Polyposis, Autosomal Recessive
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48027144187208
- Year of publication
- NA
Drugs