Unique variants in gene MUTYH

Information The variants shown are described using the transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-24G>C r.(=) p.(=) g.45805950C>G - MUTYH_000018 - - - - Despoina Kalfakakou
./. 9 - c.36+11C>T r.(=) p.(=) g.45805880G>A - MUTYH_000004 rs2275602 - - - Despoina Kalfakakou
./. 1 - c.36+33G>T r.(=) p.(=) g.45805858C>A - MUTYH_000046 - - - - Despoina Kalfakakou
./. 5 - c.37-7G>A r.(=) p.(=) g.45800190C>T - MUTYH_000003 - - - - Despoina Kalfakakou
./. 1 - c.42C>T r.(=) p.(=) g.45800178G>A - MUTYH_000049 - - - - Despoina Kalfakakou
./. 1 - c.154G>A r.(?) p.(Asp52Asn) g.45800066C>T - MUTYH_000052 - - - - Despoina Kalfakakou
./. 1 - c.158-1G>A r.spl? p.? g.45799267C>T - MUTYH_000037 - - - - Despoina Kalfakakou
./. 1 - c.303C>T r.(=) p.(=) g.45799121G>A - MUTYH_000044 - - - - Despoina Kalfakakou
./. 1 - c.379+8C>T r.(=) p.(=) g.45798949G>A - MUTYH_000038 - - - - Despoina Kalfakakou
./. 1 - c.380-46G>A r.(=) p.(=) g.45798888C>T - MUTYH_000056 - - - - Despoina Kalfakakou
./. 5 - c.380-13C>G r.(=) p.(=) g.45798855G>C - MUTYH_000002 - - - - Despoina Kalfakakou
./. 4 - c.380-7C>A r.(=) p.(=) g.45798849G>T - MUTYH_000033 - - - - Despoina Kalfakakou
./. 3 - c.441C>T r.(=) p.(=) g.45798781G>A - MUTYH_000011 - - - - Despoina Kalfakakou
./. 1 - c.443G>C r.(?) p.(Gly148Ala) g.45798779C>G - MUTYH_000057 - - - - Despoina Kalfakakou
./. 6 - c.495+19_495+31del r.(=) p.(=) g.45798559_45798571del - MUTYH_000027 - - - - Despoina Kalfakakou
./. 2 - c.496-35C>T r.(=) p.(=) g.45798541G>A - MUTYH_000010 - - - - Despoina Kalfakakou
./. 2 - c.518G>A r.(?) p.(Gly173Asp) g.45798484C>T - MUTYH_000043 - - - - Despoina Kalfakakou
./. 3 - c.527A>G r.(?) p.(Tyr176Cys) g.45798475T>C - MUTYH_000032 rs34612342 - - - Despoina Kalfakakou
./. 1 - c.544C>T r.(?) p.(Arg182Trp) g.45798458G>A - MUTYH_000042 - - - - Despoina Kalfakakou
./. 1 - c.549G>A r.(=) p.(=) g.45798453C>T - MUTYH_000054 - - - - Despoina Kalfakakou
./. 2 - c.562C>T r.(?) p.(Arg188Trp) g.45798440G>A - MUTYH_000017 - - - - Despoina Kalfakakou
./. 7 - c.658A>G r.(?) p.(Ile220Val) g.45798269T>C - MUTYH_000016 - - - - Despoina Kalfakakou
./. 1 - c.664T>C r.(?) p.(Ser222Pro) g.45798263A>G - MUTYH_000048 - - - - Despoina Kalfakakou
./. 1 - c.670G>A r.(?) p.(Ala224Thr) g.45798257C>T - MUTYH_000036 - - - - Despoina Kalfakakou
./. 13 - c.681+21C>A r.(=) p.(=) g.45798225G>T - MUTYH_000001 - - - - Despoina Kalfakakou
./. 2 - c.681+31G>A r.(=) p.(=) g.45798215C>T - MUTYH_000047 - - - - Despoina Kalfakakou
./. 1 - c.682-31C>T r.(=) p.(=) g.45798191G>A - MUTYH_000035 - - - - Despoina Kalfakakou
./. 1 - c.723C>T r.(=) p.(=) g.45798119G>A - MUTYH_000024 - - - - Despoina Kalfakakou
./. 7 - c.725G>A r.(?) p.(Arg242His) g.45798117C>T - MUTYH_000015 - - - - Despoina Kalfakakou
./. 1 - c.730C>T r.(?) p.(Arg244*) g.45798112G>A - MUTYH_000041 - - - - Despoina Kalfakakou
./. 1 - c.779+9T>C r.(=) p.(=) g.45798054A>G - MUTYH_000040 - - - - Despoina Kalfakakou
./. 3 - c.788C>G r.(?) p.(Ala263Gly) g.45797974G>C - MUTYH_000026 - - - - Despoina Kalfakakou
./. 3 - c.810C>G r.(=) p.(=) g.45797952G>C - MUTYH_000025 - - - - Despoina Kalfakakou
./. 1 - c.820G>A r.(?) p.(Asp274Asn) g.45797942C>T - MUTYH_000034 - - - - Despoina Kalfakakou
./. 3 - c.916C>T r.(?) p.(Arg306Cys) g.45797846G>A - MUTYH_000014 - - - - Despoina Kalfakakou
./. 2 - c.925-18C>G r.(=) p.(=) g.45797776G>C - MUTYH_000031 - - - - Despoina Kalfakakou
./. 1 - c.976G>A r.(?) p.(Val326Met) g.45797707C>T - MUTYH_000030 - - - - Despoina Kalfakakou
./. 2 - c.989-27G>A r.(=) p.(=) g.45797548C>T - MUTYH_000045 - - - - Despoina Kalfakakou
./. 1 - c.989-21T>C r.(=) p.(=) g.45797542A>G - MUTYH_000055 - - - - Despoina Kalfakakou
./. 2 - c.989-9C>T r.(=) p.(=) g.45797530G>A - MUTYH_000020 rs3219488 - - - Despoina Kalfakakou
./. 1 - c.991C>T r.(?) p.(Pro331Ser) g.45797519G>A - MUTYH_000019 - - - - Despoina Kalfakakou
./. 1 - c.993C>T r.(=) p.(=) g.45797517G>A - MUTYH_000050 - - - - Despoina Kalfakakou
./. 1 - c.1004A>G r.(?) p.(Gln335Arg) g.45797506T>C - MUTYH_000013 - - - - Despoina Kalfakakou
./. 1 - c.1011C>G r.(?) p.(His337Gln) g.45797499G>C - MUTYH_000039 - - - - Despoina Kalfakakou
./. 1 - c.1032_1033del r.(?) p.(Glu344Aspfs*184) g.45797477_45797478del - MUTYH_000029 - - - - Despoina Kalfakakou
./. 1 - c.1177+9A>T r.(=) p.(=) g.45797324T>A - MUTYH_000051 - - - - Despoina Kalfakakou
./. 34 - c.1178-27C>T r.(=) p.(=) g.45797255G>A - MUTYH_000008 rs3219490 - - - Despoina Kalfakakou
./. 13 - c.1178G>A r.(?) p.(Gly393Asp) g.45797228C>T - MUTYH_000007 rs36053993 - - - Despoina Kalfakakou
./. 1 - c.1219_1220insGG r.(?) p.(Glu407Glyfs*43) g.45797186_45797187insCC - MUTYH_000053 - - - - Despoina Kalfakakou
./. 7 - c.1249C>A r.(?) p.(Leu417Met) g.45797157G>T - MUTYH_000006 - - - - Despoina Kalfakakou
./. 6 - c.1267C>T r.(?) p.(Arg423Cys) g.45797139G>A - MUTYH_000005 - - - - Despoina Kalfakakou
./. 1 - c.1273G>T r.(?) p.(Ala425Ser) g.45797133C>A - MUTYH_000065 - - - - Despoina Kalfakakou
./. 1 - c.1376G>C r.(?) p.(Gly459Ala) g.45796945C>G - MUTYH_000059 - - - - Despoina Kalfakakou
./. 1 - c.1417C>T r.(=) p.(=) g.45796904G>A - MUTYH_000022 - - - - Despoina Kalfakakou
./. 4 - c.1428_1430del r.(?) p.(Glu477del) g.45796891_45796893del - MUTYH_000028 - - - - Despoina Kalfakakou
./. 2 - c.1440C>T r.(=) p.(=) g.45796881G>A - MUTYH_000021 - - - - Despoina Kalfakakou
./. 3 - c.1468-43T>G r.(=) p.(=) g.45796272A>C - MUTYH_000023 - - - - Despoina Kalfakakou
./. 1 - c.1468-28G>A r.(=) p.(=) g.45796257C>T - MUTYH_000058 - - - - Despoina Kalfakakou
./. 1 - c.1468-22A>T r.(=) p.(=) g.45796251T>A - MUTYH_000063 - - - - Despoina Kalfakakou
./. 1 - c.1468-21C>T r.(=) p.(=) g.45796250G>A - MUTYH_000062 - - - - Despoina Kalfakakou
./. 1 - c.1468-21_1468-20insTTTGT r.(=) p.(=) g.45796249_45796250insACAAA - MUTYH_000061 - - - - Despoina Kalfakakou
./. 1 - c.1468-18C>T r.(=) p.(=) g.45796247G>A - MUTYH_000060 - - - - Despoina Kalfakakou
./. 1 - c.1468-16C>T r.(=) p.(=) g.45796245G>A - MUTYH_000064 - - - - Despoina Kalfakakou
./. 1 - c.1509+22C>G r.(=) p.(=) g.45796166G>C - MUTYH_000009 - - - - Despoina Kalfakakou
./. 1 - c.1523C>T r.(?) p.(Ser508Phe) g.45795096G>A - MUTYH_000012 - - - - Despoina Kalfakakou
Legend