Full data view for gene CTNNB1

Information The variants shown are described using the NM_001098210.1 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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.-48-9del r.(=) p.(=) g.41265503del Copied from the Exome Variant Server CTNNB1_000001 58/12520 43/8254 15/4266 - - - - - - -
?/? c.-45A>G r.(=) p.(=) g.41265515A>G Copied from the Exome Variant Server CTNNB1_000002 27/13006 0/8600 27/4406 - - - - - - -
?/? c.-9G>C r.(=) p.(=) g.41265551G>C Copied from the Exome Variant Server CTNNB1_000003 7/13006 6/8600 1/4406 - - - - - - -
?/? c.13+5G>A r.spl? p.? g.41265577G>A Copied from the Exome Variant Server CTNNB1_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.13+11T>C r.(=) p.(=) g.41265583T>C Copied from the Exome Variant Server CTNNB1_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.13+86_13+87del r.(=) p.(=) g.41265658_41265659del Copied from the Exome Variant Server CTNNB1_000006 1/12520 1/8254 0/4266 - - - - - - -
?/? c.13+94C>T r.(=) p.(=) g.41265666C>T Copied from the Exome Variant Server CTNNB1_000007 2/4566 2/3182 0/1384 - - - - - - -
?/? c.13+97_13+100del r.(=) p.(=) g.41265669_41265672del Copied from the Exome Variant Server CTNNB1_000008 4/12520 4/8254 0/4266 - - - - - - -
?/? c.14-43A>G r.(=) p.(=) g.41265974A>G Copied from the Exome Variant Server CTNNB1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.14-13T>G r.(=) p.(=) g.41266004T>G Copied from the Exome Variant Server CTNNB1_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.14-10G>C r.(=) p.(=) g.41266007G>C Copied from the Exome Variant Server CTNNB1_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.14-4A>G r.spl? p.? g.41266013A>G Copied from the Exome Variant Server CTNNB1_000012 129/13006 2/8600 127/4406 - - - - - - -
?/? c.81A>G r.(=) p.(=) g.41266084A>G Copied from the Exome Variant Server CTNNB1_000013 2/13006 1/8600 1/4406 - - - - - - -
?/? c.241+20T>G r.(=) p.(=) g.41266264T>G Copied from the Exome Variant Server CTNNB1_000014 2/12996 2/8594 0/4402 - - - - - - -
?/? c.242-35_242-34insTGTG r.(=) p.(=) g.41266410_41266411insTGTG Copied from the Exome Variant Server CTNNB1_000015 5/12520 0/8254 5/4266 - - - - - - -
?/? c.242-34T>G r.(=) p.(=) g.41266411T>G Copied from the Exome Variant Server CTNNB1_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.420T>C r.(=) p.(=) g.41266623T>C Copied from the Exome Variant Server CTNNB1_000017 70/13006 3/8600 67/4406 - - - - - - -
?/? c.452G>A r.(?) p.(Arg151His) g.41266655G>A Copied from the Exome Variant Server CTNNB1_000018 3/13006 3/8600 0/4406 - - - - - - -
?/? c.483T>C r.(=) p.(=) g.41266686T>C Copied from the Exome Variant Server CTNNB1_000020 1/13006 0/8600 1/4406 - - - - - - -
?/? c.486C>T r.(=) p.(=) g.41266689C>T Copied from the Exome Variant Server CTNNB1_000022 14/13006 13/8600 1/4406 - - - - - - -
?/? c.496-27C>T r.(=) p.(=) g.41266798C>T Copied from the Exome Variant Server CTNNB1_000024 1/13004 0/8600 1/4404 - - - - - - -
?/? c.552C>T r.(=) p.(=) g.41266881C>T Copied from the Exome Variant Server CTNNB1_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.583G>A r.(?) p.(Val195Met) g.41266912G>A Copied from the Exome Variant Server CTNNB1_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.598C>T r.(?) p.(Arg200Cys) g.41266927C>T Copied from the Exome Variant Server CTNNB1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.633T>C r.(=) p.(=) g.41266962T>C Copied from the Exome Variant Server CTNNB1_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.642C>T r.(=) p.(=) g.41266971C>T Copied from the Exome Variant Server CTNNB1_000019 76/13006 0/8600 76/4406 - - - - - - -
?/? c.643G>A r.(?) p.(Ala215Thr) g.41266972G>A Copied from the Exome Variant Server CTNNB1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.674G>C r.(?) p.(Arg225Pro) g.41267003G>C Copied from the Exome Variant Server CTNNB1_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.718C>G r.(?) p.(Leu240Val) g.41267047C>G Copied from the Exome Variant Server CTNNB1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.735-27C>T r.(=) p.(=) g.41267124C>T Copied from the Exome Variant Server CTNNB1_000027 1/13002 1/8600 0/4402 - - - - - - -
?/? c.860A>G r.(?) p.(Asn287Ser) g.41267276A>G Copied from the Exome Variant Server CTNNB1_000029 13/13006 12/8600 1/4406 - - - - - - -
?/? c.891G>A r.(=) p.(=) g.41267307G>A Copied from the Exome Variant Server CTNNB1_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.906A>G r.(=) p.(=) g.41267322A>G Copied from the Exome Variant Server CTNNB1_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.925C>G r.(?) p.(Gln309Glu) g.41267341C>G Copied from the Exome Variant Server CTNNB1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.936+12A>G r.(=) p.(=) g.41267364A>G Copied from the Exome Variant Server CTNNB1_000035 7/13006 5/8600 2/4406 - - - - - - -
?/? c.936+18T>C r.(=) p.(=) g.41267370T>C Copied from the Exome Variant Server CTNNB1_000036 1/13004 1/8600 0/4404 - - - - - - -
?/? c.936+23G>C r.(=) p.(=) g.41267375G>C Copied from the Exome Variant Server CTNNB1_000037 1/13002 1/8598 0/4404 - - - - - - -
?/? c.978T>C r.(=) p.(=) g.41268740T>C Copied from the Exome Variant Server CTNNB1_000038 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1023C>T r.(=) p.(=) g.41268785C>T Copied from the Exome Variant Server CTNNB1_000039 23/13006 1/8600 22/4406 - - - - - - -
?/? c.1038G>A r.(=) p.(=) g.41268800G>A Copied from the Exome Variant Server CTNNB1_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1082-17C>G r.(=) p.(=) g.41274815C>G Copied from the Exome Variant Server CTNNB1_000041 341/13006 105/8600 236/4406 - - - - - - -
?/? c.1186-5C>T r.spl? p.? g.41275015C>T Copied from the Exome Variant Server CTNNB1_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1272T>C r.(=) p.(=) g.41275106T>C Copied from the Exome Variant Server CTNNB1_000043 23/13006 0/8600 23/4406 - - - - - - -
?/? c.1392C>G r.(=) p.(=) g.41275226C>G Copied from the Exome Variant Server CTNNB1_000044 7/13006 5/8600 2/4406 - - - - - - -
?/? c.1516C>T r.(=) p.(=) g.41275350C>T Copied from the Exome Variant Server CTNNB1_000045 377/13006 5/8600 372/4406 - - - - - - -
?/? c.1524+49G>A r.(=) p.(=) g.41275407G>A Copied from the Exome Variant Server CTNNB1_000046 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1524+50C>T r.(=) p.(=) g.41275408C>T Copied from the Exome Variant Server CTNNB1_000047 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1525-37G>A r.(=) p.(=) g.41275593G>A Copied from the Exome Variant Server CTNNB1_000048 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1525-26T>C r.(=) p.(=) g.41275604T>C Copied from the Exome Variant Server CTNNB1_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1525-9G>T r.(=) p.(=) g.41275621G>T Copied from the Exome Variant Server CTNNB1_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1563C>T r.(=) p.(=) g.41275668C>T Copied from the Exome Variant Server CTNNB1_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1683+17A>G r.(=) p.(=) g.41275805A>G Copied from the Exome Variant Server CTNNB1_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1683+32T>C r.(=) p.(=) g.41275820T>C Copied from the Exome Variant Server CTNNB1_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1683+35A>G r.(=) p.(=) g.41275823A>G Copied from the Exome Variant Server CTNNB1_000054 30/13006 0/8600 30/4406 - - - - - - -
?/? c.1684-27G>C r.(=) p.(=) g.41277188G>C Copied from the Exome Variant Server CTNNB1_000055 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1803+23T>C r.(=) p.(=) g.41277357T>C Copied from the Exome Variant Server CTNNB1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1803+26_1803+27insT r.(=) p.(=) g.41277360_41277361insT Copied from the Exome Variant Server CTNNB1_000057 3/12520 0/8254 3/4266 - - - - - - -
?/? c.1804-49A>G r.(=) p.(=) g.41277791A>G Copied from the Exome Variant Server CTNNB1_000058 16/13004 1/8598 15/4406 - - - - - - -
?/? c.1804-4T>C r.spl? p.? g.41277836T>C Copied from the Exome Variant Server CTNNB1_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1830C>T r.(=) p.(=) g.41277866C>T Copied from the Exome Variant Server CTNNB1_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1927T>C r.(=) p.(=) g.41277963T>C Copied from the Exome Variant Server CTNNB1_000061 8/13006 0/8600 8/4406 - - - - - - -
?/? c.1954+15A>G r.(=) p.(=) g.41278005A>G Copied from the Exome Variant Server CTNNB1_000062 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1954+22C>T r.(=) p.(=) g.41278012C>T Copied from the Exome Variant Server CTNNB1_000063 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1954+42T>C r.(=) p.(=) g.41278032T>C Copied from the Exome Variant Server CTNNB1_000064 69/13006 2/8600 67/4406 - - - - - - -
?/? c.1955-22C>A r.(=) p.(=) g.41278057C>A Copied from the Exome Variant Server CTNNB1_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1983A>C r.(=) p.(=) g.41278107A>C Copied from the Exome Variant Server CTNNB1_000066 46/13006 0/8600 46/4406 - - - - - - -
?/? c.2001A>G r.(=) p.(=) g.41278125A>G Copied from the Exome Variant Server CTNNB1_000067 2/13006 0/8600 2/4406 - - - - - - -
?/? c.2025A>G r.(=) p.(=) g.41278149A>G Copied from the Exome Variant Server CTNNB1_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2076+22T>C r.(=) p.(=) g.41278222T>C Copied from the Exome Variant Server CTNNB1_000070 2/13004 2/8598 0/4406 - - - - - - -
?/? c.2077-67A>G r.(=) p.(=) g.41279440A>G Copied from the Exome Variant Server CTNNB1_000072 773/4566 702/3182 71/1384 - - - - - - -
?/? c.2077-53G>C r.(=) p.(=) g.41279454G>C Copied from the Exome Variant Server CTNNB1_000074 2/4566 2/3182 0/1384 - - - - - - -
?/? c.2077-51G>C r.(=) p.(=) g.41279456G>C Copied from the Exome Variant Server CTNNB1_000076 2/13006 2/8600 0/4406 - - - - - - -
?/? c.2077-50A>C r.(=) p.(=) g.41279457A>C Copied from the Exome Variant Server CTNNB1_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2077-28C>A r.(=) p.(=) g.41279479C>A Copied from the Exome Variant Server CTNNB1_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2077-4C>G r.spl? p.? g.41279503C>G Copied from the Exome Variant Server CTNNB1_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2129G>A r.(?) p.(Arg710His) g.41279559G>A Copied from the Exome Variant Server CTNNB1_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2137+7G>A r.(=) p.(=) g.41279574G>A Copied from the Exome Variant Server CTNNB1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2137+20C>T r.(=) p.(=) g.41279587C>T Copied from the Exome Variant Server CTNNB1_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2137+21G>C r.(=) p.(=) g.41279588G>C Copied from the Exome Variant Server CTNNB1_000075 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2137+56T>C r.(=) p.(=) g.41279623T>C Copied from the Exome Variant Server CTNNB1_000077 1/4566 1/3182 0/1384 - - - - - - -
?/? c.2138-29_2138-28insTAT r.(=) p.(=) g.41280596_41280597insTAT Copied from the Exome Variant Server CTNNB1_000079 1/12520 0/8254 1/4266 - - - - - - -
?/? c.2199C>T r.(=) p.(=) g.41280686C>T Copied from the Exome Variant Server CTNNB1_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2255G>C r.(?) p.(Gly752Ala) g.41280742G>C Copied from the Exome Variant Server CTNNB1_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2303C>T r.(?) p.(Pro768Leu) g.41280790C>T Copied from the Exome Variant Server CTNNB1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2320C>T r.(=) p.(=) g.41280807C>T Copied from the Exome Variant Server CTNNB1_000085 63/13006 57/8600 6/4406 - - - - - - -
?/? c.2340C>T r.(=) p.(=) g.41280827C>T Copied from the Exome Variant Server CTNNB1_000086 24/13006 7/8600 17/4406 - - - - - - -
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