Full data view for gene MUTYH

Information The variants shown are described using the NM_012222.2 transcript reference sequence.

127 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-81C>A r.(=) p.(=) g.45806007G>T Copied from the Exome Variant Server MUTYH_000126 2/12990 2/8592 0/4398 - - - - - - -
?/? c.-10G>A r.(=) p.(=) g.45805936C>T Copied from the Exome Variant Server MUTYH_000125 1/13006 0/8600 1/4406 - - - - - - -
?/? c.36+11C>T r.(=) p.(=) g.45805880G>A Copied from the Exome Variant Server MUTYH_000124 5/13006 5/8600 0/4406 - - - - - - -
?/? c.36+25C>G r.(=) p.(=) g.45805866G>C Copied from the Exome Variant Server MUTYH_000123 1/13000 1/8600 0/4400 - - - - - - -
?/? c.36+30C>A r.(=) p.(=) g.45805861G>T Copied from the Exome Variant Server MUTYH_000122 7/12992 0/8598 7/4394 - - - - - - -
?/? c.36+40G>A r.(=) p.(=) g.45805851C>T Copied from the Exome Variant Server MUTYH_000121 1/12986 0/8592 1/4394 - - - - - - -
?/? c.36+48G>C r.(=) p.(=) g.45805843C>G Copied from the Exome Variant Server MUTYH_000120 1/12980 0/8586 1/4394 - - - - - - -
?/? c.36+357A>G r.(=) p.(=) g.45805534T>C Copied from the Exome Variant Server MUTYH_000119 6/5560 6/3876 0/1684 - - - - - - -
?/? c.37-40C>T r.(=) p.(=) g.45800223G>A Copied from the Exome Variant Server MUTYH_000118 1/13006 1/8600 0/4406 - - - - - - -
?/? c.37G>A r.(?) p.(Ala13Thr) g.45800183C>T Copied from the Exome Variant Server MUTYH_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.64G>A r.(?) p.(Val22Met) g.45800156C>T Copied from the Exome Variant Server MUTYH_000116 651/13006 597/8600 54/4406 - - - - - - -
?/? c.66G>C r.(=) p.(=) g.45800154C>G Copied from the Exome Variant Server MUTYH_000115 1/13006 1/8600 0/4406 - - - - - - -
?/? c.129C>T r.(=) p.(=) g.45800091G>A Copied from the Exome Variant Server MUTYH_000114 1/13006 0/8600 1/4406 - - - - - - -
?/? c.141G>A r.(=) p.(=) g.45800079C>T Copied from the Exome Variant Server MUTYH_000113 1/13006 0/8600 1/4406 - - - - - - -
?/? c.157+6G>C r.(=) p.(=) g.45800057C>G Copied from the Exome Variant Server MUTYH_000112 1/13006 0/8600 1/4406 - - - - - - -
?/? c.157+30A>G r.(=) p.(=) g.45800033T>C Copied from the Exome Variant Server MUTYH_000111 329/13006 298/8600 31/4406 - - - - - - -
?/? c.158-21C>T r.(=) p.(=) g.45799287G>A Copied from the Exome Variant Server MUTYH_000110 4/12984 0/8584 4/4400 - - - - - - -
?/? c.165T>C r.(=) p.(=) g.45799259A>G Copied from the Exome Variant Server MUTYH_000108 1/13006 0/8600 1/4406 - - - - - - -
?/? c.207G>A r.(=) p.(=) g.45799217C>T Copied from the Exome Variant Server MUTYH_000106 1/13006 0/8600 1/4406 - - - - - - -
?/? c.239C>G r.(?) p.(Ser80*) g.45799185G>C Copied from the Exome Variant Server MUTYH_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.259G>A r.(?) p.(Val87Ile) g.45799165C>T Copied from the Exome Variant Server MUTYH_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.280C>T r.(?) p.(Arg94*) g.45799144G>A Copied from the Exome Variant Server MUTYH_000100 1/13006 0/8600 1/4406 - - - - - - -
?/? c.303C>T r.(=) p.(=) g.45799121G>A Copied from the Exome Variant Server MUTYH_000098 24/13006 17/8600 7/4406 - - - - - - -
?/? c.337C>T r.(?) p.(Arg113Trp) g.45799087G>A Copied from the Exome Variant Server MUTYH_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.339+10C>T r.(=) p.(=) g.45799075G>A Copied from the Exome Variant Server MUTYH_000094 1/13006 1/8600 0/4406 - - - - - - -
?/? c.379+37C>T r.(=) p.(=) g.45798920G>A Copied from the Exome Variant Server MUTYH_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.379+38G>A r.(=) p.(=) g.45798919C>T Copied from the Exome Variant Server MUTYH_000090 2/13006 2/8600 0/4406 - - - - - - -
?/? c.379+56G>A r.(=) p.(=) g.45798901C>T Copied from the Exome Variant Server MUTYH_000089 10/4566 9/3182 1/1384 - - - - - - -
?/? c.380-6C>T r.(=) p.(=) g.45798848G>A Copied from the Exome Variant Server MUTYH_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.380-1G>A r.spl? p.? g.45798843C>T Copied from the Exome Variant Server MUTYH_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.400C>T r.(=) p.(=) g.45798822G>A Copied from the Exome Variant Server MUTYH_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.414G>C r.(?) p.(Gln138His) g.45798808C>G Copied from the Exome Variant Server MUTYH_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.441C>T r.(=) p.(=) g.45798781G>A Copied from the Exome Variant Server MUTYH_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.453+3G>A r.spl? p.? g.45798766C>T Copied from the Exome Variant Server MUTYH_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.453+40C>T r.(=) p.(=) g.45798729G>A Copied from the Exome Variant Server MUTYH_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.454-54C>T r.(=) p.(=) g.45798685G>A Copied from the Exome Variant Server MUTYH_000072 1/4566 1/3182 0/1384 - - - - - - -
?/? c.454-39C>T r.(=) p.(=) g.45798670G>A Copied from the Exome Variant Server MUTYH_000070 2/13006 0/8600 2/4406 - - - - - - -
?/? c.495+35A>G r.(=) p.(=) g.45798555T>C Copied from the Exome Variant Server MUTYH_000069 12099/13006 7843/8600 4256/4406 - - - - - - -
?/? c.495+37T>G r.(=) p.(=) g.45798553A>C Copied from the Exome Variant Server MUTYH_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.496-4A>G r.spl? p.? g.45798510T>C Copied from the Exome Variant Server MUTYH_000064 64/13006 0/8600 64/4406 - - - - - - -
?/? c.527A>G r.(?) p.(Tyr176Cys) g.45798475T>C Copied from the Exome Variant Server MUTYH_000063 28/13006 26/8600 2/4406 - - - - - - -
?/? c.536G>T r.(?) p.(Arg179Leu) g.45798466C>A Copied from the Exome Variant Server MUTYH_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.563G>A r.(?) p.(Arg188Gln) g.45798439C>T Copied from the Exome Variant Server MUTYH_000109 1/13006 1/8600 0/4406 - - - - - - -
?/? c.567+18G>A r.(=) p.(=) g.45798417C>T Copied from the Exome Variant Server MUTYH_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.567+20del r.(=) p.(=) g.45798415del Copied from the Exome Variant Server MUTYH_000105 5/12518 5/8254 0/4264 - - - - - - -
?/? c.567+32G>T r.(=) p.(=) g.45798403C>A Copied from the Exome Variant Server MUTYH_000103 1/13006 1/8600 0/4406 - - - - - - -
?/? c.619C>T r.(?) p.(Gln207*) g.45798308G>A Copied from the Exome Variant Server MUTYH_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.641G>A r.(?) p.(Arg214His) g.45798286C>T Copied from the Exome Variant Server MUTYH_000099 2/13006 1/8600 1/4406 - - - - - - -
?/? c.658A>G r.(?) p.(Ile220Val) g.45798269T>C Copied from the Exome Variant Server MUTYH_000097 2/13006 2/8600 0/4406 - - - - - - -
?/? c.669C>T r.(=) p.(=) g.45798258G>A Copied from the Exome Variant Server MUTYH_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.670G>A r.(?) p.(Ala224Thr) g.45798257C>T Copied from the Exome Variant Server MUTYH_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.681+21C>A r.(=) p.(=) g.45798225G>T Copied from the Exome Variant Server MUTYH_000091 74/13006 68/8600 6/4406 - - - - - - -
?/? c.682-40C>G r.(=) p.(=) g.45798200G>C Copied from the Exome Variant Server MUTYH_000088 3/13006 3/8600 0/4406 - - - - - - -
?/? c.688G>C r.(?) p.(Gly230Arg) g.45798154C>G Copied from the Exome Variant Server MUTYH_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.691G>A r.(?) p.(Val231Met) g.45798151C>T Copied from the Exome Variant Server MUTYH_000085 2/13006 2/8600 0/4406 - - - - - - -
?/? c.710C>T r.(?) p.(Ala237Val) g.45798132G>A Copied from the Exome Variant Server MUTYH_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.722G>A r.(?) p.(Cys241Tyr) g.45798120C>T Copied from the Exome Variant Server MUTYH_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.725G>A r.(?) p.(Arg242His) g.45798117C>T Copied from the Exome Variant Server MUTYH_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.741T>C r.(=) p.(=) g.45798101A>G Copied from the Exome Variant Server MUTYH_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.759C>T r.(=) p.(=) g.45798083G>A Copied from the Exome Variant Server MUTYH_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.779+7T>A r.(=) p.(=) g.45798056A>T Copied from the Exome Variant Server MUTYH_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.812G>A r.(?) p.(Arg271Gln) g.45797950C>T Copied from the Exome Variant Server MUTYH_000071 4/13004 3/8600 1/4404 - - - - - - -
?/? c.841G>C r.(?) p.(Glu281Gln) g.45797921C>G Copied from the Exome Variant Server MUTYH_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.872G>A r.(?) p.(Arg291His) g.45797890C>T Copied from the Exome Variant Server MUTYH_000067 2/13006 1/8600 1/4406 - - - - - - -
?/? c.875C>T r.(?) p.(Pro292Leu) g.45797887G>A Copied from the Exome Variant Server MUTYH_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.911G>A r.(?) p.(Arg304Gln) g.45797851C>T Copied from the Exome Variant Server MUTYH_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.916C>T r.(?) p.(Arg306Cys) g.45797846G>A Copied from the Exome Variant Server MUTYH_000060 7/13006 6/8600 1/4406 - - - - - - -
?/? c.923G>A r.(?) p.(Arg308Lys) g.45797839C>T Copied from the Exome Variant Server MUTYH_000059 3/13006 0/8600 3/4406 - - - - - - -
?/? c.924A>T r.(?) p.(Arg308Ser) g.45797838T>A Copied from the Exome Variant Server MUTYH_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.925-33C>T r.(=) p.(=) g.45797791G>A Copied from the Exome Variant Server MUTYH_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.925-29C>T r.(=) p.(=) g.45797787G>A Copied from the Exome Variant Server MUTYH_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.954del r.(?) p.(Ser319Alafs*86) g.45797729del Copied from the Exome Variant Server MUTYH_000055 16/12518 13/8254 3/4264 - - - - - - -
?/? c.957C>G r.(?) p.(Ser319Arg) g.45797726G>C Copied from the Exome Variant Server MUTYH_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.972T>C r.(=) p.(=) g.45797711A>G Copied from the Exome Variant Server MUTYH_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.976G>A r.(?) p.(Val326Met) g.45797707C>T Copied from the Exome Variant Server MUTYH_000052 2/13006 1/8600 1/4406 - - - - - - -
?/? c.988+21C>T r.(=) p.(=) g.45797674G>A Copied from the Exome Variant Server MUTYH_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.989-27G>A r.(=) p.(=) g.45797548C>T Copied from the Exome Variant Server MUTYH_000050 12/12972 11/8588 1/4384 - - - - - - -
?/? c.989-23G>C r.(=) p.(=) g.45797544C>G Copied from the Exome Variant Server MUTYH_000049 1/12988 1/8596 0/4392 - - - - - - -
?/? c.989-9C>T r.(=) p.(=) g.45797530G>A Copied from the Exome Variant Server MUTYH_000048 4/12998 3/8596 1/4402 - - - - - - -
?/? c.1005G>C r.(?) p.(Gln335His) g.45797505C>G Copied from the Exome Variant Server MUTYH_000046 3304/13002 2143/8600 1161/4402 - - - - - - -
?/? c.1029G>A r.(=) p.(=) g.45797481C>T Copied from the Exome Variant Server MUTYH_000043 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1081C>T r.(?) p.(Arg361Cys) g.45797429G>A Copied from the Exome Variant Server MUTYH_000040 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1138del r.(?) p.(Ala382Profs*23) g.45797372del Copied from the Exome Variant Server MUTYH_000037 14/12502 10/8250 4/4252 - - - - - - -
?/? c.1177+17C>T r.(=) p.(=) g.45797316G>A Copied from the Exome Variant Server MUTYH_000034 2/12996 2/8596 0/4400 - - - - - - -
?/? c.1177+37G>A r.(=) p.(=) g.45797296C>T Copied from the Exome Variant Server MUTYH_000031 1/13002 1/8596 0/4406 - - - - - - -
?/? c.1177+47A>G r.(=) p.(=) g.45797286T>C Copied from the Exome Variant Server MUTYH_000028 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1178-27C>T r.(=) p.(=) g.45797255G>A Copied from the Exome Variant Server MUTYH_000025 44/13006 37/8600 7/4406 - - - - - - -
?/? c.1178-7C>T r.(=) p.(=) g.45797235G>A Copied from the Exome Variant Server MUTYH_000022 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1178G>A r.(?) p.(Gly393Asp) g.45797228C>T Copied from the Exome Variant Server chr1_002420 50/13006 43/8600 7/4406 - - - - - - -
?/? c.1241G>A r.(?) p.(Arg414His) g.45797165C>T Copied from the Exome Variant Server MUTYH_000018 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1247C>A r.(?) p.(Ala416Asp) g.45797159G>T Copied from the Exome Variant Server MUTYH_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1249C>A r.(?) p.(Leu417Met) g.45797157G>T Copied from the Exome Variant Server MUTYH_000014 6/13006 6/8600 0/4406 - - - - - - -
?/? c.1267C>T r.(?) p.(Arg423Cys) g.45797139G>A Copied from the Exome Variant Server MUTYH_000047 9/13006 8/8600 1/4406 - - - - - - -
?/? c.1294C>T r.(?) p.(His432Tyr) g.45797112G>A Copied from the Exome Variant Server MUTYH_000045 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1315-40T>C r.(=) p.(=) g.45797046A>G Copied from the Exome Variant Server MUTYH_000042 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1322A>G r.(?) p.(His441Arg) g.45796999T>C Copied from the Exome Variant Server MUTYH_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1384C>G r.(?) p.(Pro462Ala) g.45796937G>C Copied from the Exome Variant Server MUTYH_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1411C>T r.(?) p.(Arg471Cys) g.45796910G>A Copied from the Exome Variant Server MUTYH_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1422G>C r.(=) p.(=) g.45796899C>G Copied from the Exome Variant Server MUTYH_000029 54/13006 8/8600 46/4406 - - - - - - -
?/? c.1426G>A r.(?) p.(Glu476Lys) g.45796895C>T Copied from the Exome Variant Server MUTYH_000026 1/13006 1/8600 0/4406 - - - - - - -
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