All transcript variants in gene TLK2

Information The variants shown are described using the NM_006852.3 transcript reference sequence.

98 entries on 1 page. Showing entries 1 - 98.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-5-38A>G r.(=) p.(=) g.60558444A>G Copied from the Exome Variant Server TLK2_000001 1/13006 1/8600 0/4406
?/? c.81+15G>A r.(=) p.(=) g.60558582G>A Copied from the Exome Variant Server TLK2_000002 1/13006 0/8600 1/4406
?/? c.81+29T>C r.(=) p.(=) g.60558596T>C Copied from the Exome Variant Server TLK2_000003 1/13006 1/8600 0/4406
?/? c.81+39A>G r.(=) p.(=) g.60558606A>G Copied from the Exome Variant Server TLK2_000004 1/13006 0/8600 1/4406
?/? c.81+50A>G r.(=) p.(=) g.60558617A>G Copied from the Exome Variant Server TLK2_000005 366/13006 4/8600 362/4406
?/? c.82-49A>G r.(=) p.(=) g.60598085A>G Copied from the Exome Variant Server TLK2_000006 1/12968 0/8586 1/4382
?/? c.82-41A>C r.(=) p.(=) g.60598093A>C Copied from the Exome Variant Server TLK2_000007 2/12980 0/8590 2/4390
?/? c.153+26_153+27insTT r.(=) p.(=) g.60598231_60598232insTT Copied from the Exome Variant Server TLK2_000008 1/12518 0/8254 1/4264
?/? c.153+41C>T r.(=) p.(=) g.60598246C>T Copied from the Exome Variant Server TLK2_000009 32/13006 1/8600 31/4406
?/? c.154-50C>T r.(=) p.(=) g.60599515C>T Copied from the Exome Variant Server TLK2_000010 3/13000 2/8598 1/4402
?/? c.154-14A>T r.(=) p.(=) g.60599551A>T Copied from the Exome Variant Server TLK2_000011 1/13006 0/8600 1/4406
?/? c.177C>A r.(?) p.(Asp59Glu) g.60599588C>A Copied from the Exome Variant Server TLK2_000013 2/13006 0/8600 2/4406
?/? c.224-8A>G r.(=) p.(=) g.60600487A>G Copied from the Exome Variant Server TLK2_000012 2/12922 2/8550 0/4372
?/? c.267+28_267+29insA r.(=) p.(=) g.60600566_60600567insA Copied from the Exome Variant Server TLK2_000014 1720/12486 850/8228 870/4258
?/? c.267+43_267+45del r.(=) p.(=) g.60600581_60600583del Copied from the Exome Variant Server TLK2_000015 3/12458 1/8208 2/4250
?/? c.281G>A r.(?) p.(Ser94Asn) g.60601610G>A Copied from the Exome Variant Server TLK2_000016 1/13006 1/8600 0/4406
?/? c.282C>T r.(=) p.(=) g.60601611C>T Copied from the Exome Variant Server TLK2_000017 1/13006 1/8600 0/4406
?/? c.336G>A r.(=) p.(=) g.60601665G>A Copied from the Exome Variant Server TLK2_000018 1/12998 1/8592 0/4406
?/? c.363+36T>C r.(=) p.(=) g.60601728T>C Copied from the Exome Variant Server TLK2_000019 4/12754 4/8470 0/4284
?/? c.364-52G>A r.(=) p.(=) g.60613479G>A Copied from the Exome Variant Server TLK2_000020 1/5734 1/3982 0/1752
?/? c.364-51T>G r.(=) p.(=) g.60613480T>G Copied from the Exome Variant Server TLK2_000021 6/13006 0/8600 6/4406
?/? c.364-35T>G r.(=) p.(=) g.60613496T>G Copied from the Exome Variant Server TLK2_000022 1/13006 1/8600 0/4406
?/? c.494C>T r.(?) p.(Ala165Val) g.60613661C>T Copied from the Exome Variant Server TLK2_000023 6/13002 5/8596 1/4406
?/? c.510C>T r.(=) p.(=) g.60613677C>T Copied from the Exome Variant Server TLK2_000024 1/13006 1/8600 0/4406
?/? c.531+1G>A r.spl? p.? g.60613699G>A Copied from the Exome Variant Server TLK2_000025 1/13006 1/8600 0/4406
?/? c.531+26A>G r.(=) p.(=) g.60613724A>G Copied from the Exome Variant Server TLK2_000026 2/13006 0/8600 2/4406
?/? c.531+37A>G r.(=) p.(=) g.60613735A>G Copied from the Exome Variant Server TLK2_000027 4/13006 0/8600 4/4406
?/? c.532-24A>G r.(=) p.(=) g.60629639A>G Copied from the Exome Variant Server TLK2_000028 5/12896 5/8514 0/4382
?/? c.560G>T r.(?) p.(Gly187Val) g.60629691G>T Copied from the Exome Variant Server TLK2_000029 1/12964 1/8560 0/4404
?/? c.597A>T r.(?) p.(Lys199Asn) g.60629728A>T Copied from the Exome Variant Server TLK2_000030 1/12998 1/8594 0/4404
?/? c.627+41T>C r.(=) p.(=) g.60629799T>C Copied from the Exome Variant Server TLK2_000031 1/13006 1/8600 0/4406
?/? c.628-26A>C r.(=) p.(=) g.60630998A>C Copied from the Exome Variant Server TLK2_000032 22/13004 19/8598 3/4406
?/? c.630C>T r.(=) p.(=) g.60631026C>T Copied from the Exome Variant Server TLK2_000033 1/13004 1/8598 0/4406
?/? c.721-35_721-34insT r.(=) p.(=) g.60637342_60637343insT Copied from the Exome Variant Server TLK2_000034 1/12270 1/8178 0/4092
?/? c.735G>C r.(?) p.(Leu245Phe) g.60637391G>C Copied from the Exome Variant Server TLK2_000035 1/13000 1/8594 0/4406
?/? c.831+31A>G r.(=) p.(=) g.60637518A>G Copied from the Exome Variant Server TLK2_000036 1/13006 1/8600 0/4406
?/? c.831+46A>G r.(=) p.(=) g.60637533A>G Copied from the Exome Variant Server TLK2_000037 2/13002 0/8596 2/4406
?/? c.832-46C>T r.(=) p.(=) g.60642316C>T Copied from the Exome Variant Server TLK2_000038 1/13006 1/8600 0/4406
?/? c.855T>C r.(=) p.(=) g.60642385T>C Copied from the Exome Variant Server TLK2_000039 1/13006 0/8600 1/4406
?/? c.894C>T r.(=) p.(=) g.60642424C>T Copied from the Exome Variant Server TLK2_000040 1/13006 1/8600 0/4406
?/? c.907C>A r.(=) p.(=) g.60642437C>A Copied from the Exome Variant Server TLK2_000041 9/13006 0/8600 9/4406
?/? c.912C>T r.(=) p.(=) g.60642442C>T Copied from the Exome Variant Server TLK2_000042 1/13006 1/8600 0/4406
?/? c.960T>C r.(=) p.(=) g.60642490T>C Copied from the Exome Variant Server TLK2_000043 2/13006 0/8600 2/4406
?/? c.968+16T>C r.(=) p.(=) g.60642514T>C Copied from the Exome Variant Server TLK2_000044 1/13006 1/8600 0/4406
?/? c.968+41C>T r.(=) p.(=) g.60642539C>T Copied from the Exome Variant Server TLK2_000045 1/13006 0/8600 1/4406
?/? c.969-42del r.(=) p.(=) g.60650534del Copied from the Exome Variant Server TLK2_000046 1/12518 1/8254 0/4264
?/? c.969-16T>G r.(=) p.(=) g.60650560T>G Copied from the Exome Variant Server TLK2_000047 29/13004 0/8600 29/4404
?/? c.1026A>G r.(=) p.(=) g.60650633A>G Copied from the Exome Variant Server TLK2_000048 1/13000 1/8594 0/4406
?/? c.1064C>T r.(?) p.(Pro355Leu) g.60650671C>T Copied from the Exome Variant Server TLK2_000049 1/13006 1/8600 0/4406
?/? c.1073A>G r.(?) p.(Asn358Ser) g.60650680A>G Copied from the Exome Variant Server TLK2_000050 1/13006 0/8600 1/4406
?/? c.1121+17C>T r.(=) p.(=) g.60650745C>T Copied from the Exome Variant Server TLK2_000051 86/13006 0/8600 86/4406
?/? c.1121+952T>G r.(=) p.(=) g.60651680T>G Copied from the Exome Variant Server TLK2_000052 104/5690 88/3958 16/1732
?/? c.1121+1054C>T r.(=) p.(=) g.60651782C>T Copied from the Exome Variant Server TLK2_000053 55/5710 48/3964 7/1746
?/? c.1121+1067T>C r.(=) p.(=) g.60651795T>C Copied from the Exome Variant Server TLK2_000054 10/5670 0/3928 10/1742
?/? c.1122-50C>A r.(=) p.(=) g.60654020C>A Copied from the Exome Variant Server TLK2_000055 3/13002 3/8598 0/4404
?/? c.1122-35A>G r.(=) p.(=) g.60654035A>G Copied from the Exome Variant Server TLK2_000056 1/13006 0/8600 1/4406
?/? c.1137A>T r.(?) p.(Glu379Asp) g.60654085A>T Copied from the Exome Variant Server TLK2_000057 1/13006 1/8600 0/4406
?/? c.1188+51del r.(=) p.(=) g.60654187del Copied from the Exome Variant Server TLK2_000058 74/12498 8/8242 66/4256
?/? c.1218G>A r.(=) p.(=) g.60655867G>A Copied from the Exome Variant Server TLK2_000059 1/13006 0/8600 1/4406
?/? c.1287-48G>T r.(=) p.(=) g.60657424G>T Copied from the Exome Variant Server TLK2_000060 7/13006 0/8600 7/4406
?/? c.1368+15C>T r.(=) p.(=) g.60657568C>T Copied from the Exome Variant Server TLK2_000061 1/13006 0/8600 1/4406
?/? c.1368+33G>T r.(=) p.(=) g.60657586G>T Copied from the Exome Variant Server TLK2_000062 2/13002 0/8598 2/4404
?/? c.1368+34G>A r.(=) p.(=) g.60657587G>A Copied from the Exome Variant Server TLK2_000063 1/13002 1/8598 0/4404
?/? c.1368+44C>T r.(=) p.(=) g.60657597C>T Copied from the Exome Variant Server TLK2_000064 2/13002 0/8598 2/4404
?/? c.1368+45G>A r.(=) p.(=) g.60657598G>A Copied from the Exome Variant Server TLK2_000065 1/13002 1/8598 0/4404
?/? c.1369-26C>T r.(=) p.(=) g.60663470C>T Copied from the Exome Variant Server TLK2_000066 7/12836 0/8534 7/4302
?/? c.1369-10C>T r.(=) p.(=) g.60663486C>T Copied from the Exome Variant Server TLK2_000067 1/12924 0/8564 1/4360
?/? c.1452T>C r.(=) p.(=) g.60663579T>C Copied from the Exome Variant Server TLK2_000068 1/12998 1/8594 0/4404
?/? c.1461-13C>T r.(=) p.(=) g.60673933C>T Copied from the Exome Variant Server TLK2_000069 10/13006 0/8600 10/4406
?/? c.1461G>A r.(=) p.(=) g.60673946G>A Copied from the Exome Variant Server TLK2_000070 3/13006 3/8600 0/4406
?/? c.1545T>C r.(=) p.(=) g.60674030T>C Copied from the Exome Variant Server TLK2_000071 1/13006 1/8600 0/4406
?/? c.1551-33T>C r.(=) p.(=) g.60677979T>C Copied from the Exome Variant Server TLK2_000072 2/13006 2/8600 0/4406
?/? c.1551-30A>G r.(=) p.(=) g.60677982A>G Copied from the Exome Variant Server TLK2_000073 10/13006 7/8600 3/4406
?/? c.1710C>T r.(=) p.(=) g.60678171C>T Copied from the Exome Variant Server TLK2_000074 1/13006 0/8600 1/4406
?/? c.1720+9A>G r.(=) p.(=) g.60678190A>G Copied from the Exome Variant Server TLK2_000075 6/13006 0/8600 6/4406
?/? c.1720+12_1720+13del r.(=) p.(=) g.60678193_60678194del Copied from the Exome Variant Server TLK2_000076 1/12518 1/8254 0/4264
?/? c.1720+20G>A r.(=) p.(=) g.60678201G>A Copied from the Exome Variant Server TLK2_000077 1/13006 0/8600 1/4406
?/? c.1721-25A>G r.(=) p.(=) g.60679378A>G Copied from the Exome Variant Server TLK2_000078 13/13006 10/8600 3/4406
?/? c.1749G>A r.(=) p.(=) g.60679431G>A Copied from the Exome Variant Server TLK2_000079 1/13006 1/8600 0/4406
?/? c.1859+9C>A r.(=) p.(=) g.60679550C>A Copied from the Exome Variant Server TLK2_000080 1/13006 0/8600 1/4406
?/? c.1860-29T>A r.(=) p.(=) g.60683462T>A Copied from the Exome Variant Server TLK2_000081 1/12908 1/8564 0/4344
?/? c.1860-9T>G r.(=) p.(=) g.60683482T>G Copied from the Exome Variant Server TLK2_000082 1/12992 0/8594 1/4398
?/? c.1872A>G r.(=) p.(=) g.60683503A>G Copied from the Exome Variant Server TLK2_000083 6369/13006 5207/8600 1162/4406
?/? c.1971+40T>C r.(=) p.(=) g.60683642T>C Copied from the Exome Variant Server TLK2_000084 1/13006 1/8600 0/4406
?/? c.1971+47_1971+50del r.(=) p.(=) g.60683649_60683652del Copied from the Exome Variant Server TLK2_000085 11/12518 5/8254 6/4264
?/? c.1971+49_1971+50del r.(=) p.(=) g.60683651_60683652del Copied from the Exome Variant Server TLK2_000086 1270/12518 788/8254 482/4264
?/? c.1972-40C>T r.(=) p.(=) g.60685362C>T Copied from the Exome Variant Server TLK2_000087 4/13006 4/8600 0/4406
?/? c.2019G>A r.(=) p.(=) g.60685449G>A Copied from the Exome Variant Server TLK2_000088 3/13006 0/8600 3/4406
?/? c.2080-51C>T r.(=) p.(=) g.60689702C>T Copied from the Exome Variant Server TLK2_000089 1/13006 1/8600 0/4406
?/? c.2080-48G>T r.(=) p.(=) g.60689705G>T Copied from the Exome Variant Server TLK2_000090 4/13006 3/8600 1/4406
?/? c.2080-35A>G r.(=) p.(=) g.60689718A>G Copied from the Exome Variant Server TLK2_000091 1/13006 1/8600 0/4406
?/? c.2080-33C>A r.(=) p.(=) g.60689720C>A Copied from the Exome Variant Server TLK2_000092 1/13006 0/8600 1/4406
?/? c.2080-29_2080-28del r.(=) p.(=) g.60689724_60689725del Copied from the Exome Variant Server TLK2_000093 9/12518 8/8254 1/4264
?/? c.2080-9C>T r.(=) p.(=) g.60689744C>T Copied from the Exome Variant Server TLK2_000094 7/13006 7/8600 0/4406
?/? c.2082G>A r.(=) p.(=) g.60689755G>A Copied from the Exome Variant Server TLK2_000095 19/13006 0/8600 19/4406
?/? c.2181C>T r.(=) p.(=) g.60689854C>T Copied from the Exome Variant Server TLK2_000096 1/13006 0/8600 1/4406
?/? c.2228C>T r.(?) p.(Ala743Val) g.60689901C>T Copied from the Exome Variant Server TLK2_000097 2/13004 1/8598 1/4406
?/? c.2234A>G r.(?) p.(Asn745Ser) g.60689907A>G Copied from the Exome Variant Server TLK2_000098 14/13002 0/8596 14/4406
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