Full data view for gene TCN2

Information The variants shown are described using the NM_000355.3 transcript reference sequence.

142 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.-34A>G r.(=) p.(=) g.31003285A>G Copied from the Exome Variant Server TCN2_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-20C>T r.(=) p.(=) g.31003299C>T Copied from the Exome Variant Server TCN2_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.-15C>T r.(=) p.(=) g.31003304C>T Copied from the Exome Variant Server TCN2_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-5C>T r.(=) p.(=) g.31003314C>T Copied from the Exome Variant Server TCN2_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.11T>C r.(?) p.(Leu4Pro) g.31003329T>C Copied from the Exome Variant Server TCN2_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.58A>T r.(?) p.(Met20Leu) g.31003376A>T Copied from the Exome Variant Server TCN2_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.64+11C>T r.(=) p.(=) g.31003393C>T Copied from the Exome Variant Server TCN2_000007 33/13006 0/8600 33/4406 - - - - - - -
?/? c.64+13C>T r.(=) p.(=) g.31003395C>T Copied from the Exome Variant Server TCN2_000008 2/13006 0/8600 2/4406 - - - - - - -
?/? c.65-17C>T r.(=) p.(=) g.31006841C>T Copied from the Exome Variant Server TCN2_000009 183/13006 164/8600 19/4406 - - - - - - -
?/? c.65-7T>C r.(=) p.(=) g.31006851T>C Copied from the Exome Variant Server TCN2_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.67A>G r.(?) p.(Ile23Val) g.31006860A>G Copied from the Exome Variant Server TCN2_000011 1679/13006 1001/8600 678/4406 - - - - - - -
?/? c.89T>G r.(?) p.(Leu30Arg) g.31006882T>G Copied from the Exome Variant Server TCN2_000012 50/13006 1/8600 49/4406 - - - - - - -
?/? c.114C>T r.(=) p.(=) g.31006907C>T Copied from the Exome Variant Server TCN2_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.130C>T r.(?) p.(Arg44Trp) g.31006923C>T Copied from the Exome Variant Server TCN2_000014 5/13006 0/8600 5/4406 - - - - - - -
?/? c.138C>T r.(=) p.(=) g.31006931C>T Copied from the Exome Variant Server TCN2_000015 21/13006 0/8600 21/4406 - - - - - - -
?/? c.184A>G r.(?) p.(Ser62Gly) g.31006977A>G Copied from the Exome Variant Server TCN2_000016 2/13006 0/8600 2/4406 - - - - - - -
?/? c.210C>T r.(=) p.(=) g.31007003C>T Copied from the Exome Variant Server TCN2_000017 2/13006 2/8600 0/4406 - - - - - - -
?/? c.230A>T r.(?) p.(Lys77Met) g.31007023A>T Copied from the Exome Variant Server TCN2_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.249C>T r.(=) p.(=) g.31007042C>T Copied from the Exome Variant Server TCN2_000019 4/13006 1/8600 3/4406 - - - - - - -
?/? c.252C>G r.(=) p.(=) g.31007045C>G Copied from the Exome Variant Server TCN2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.253C>G r.(?) p.(Leu85Val) g.31007046C>G Copied from the Exome Variant Server TCN2_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.257G>A r.(?) p.(Gly86Glu) g.31007050G>A Copied from the Exome Variant Server TCN2_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.257+13del r.(=) p.(=) g.31007063del Copied from the Exome Variant Server TCN2_000023 1/12514 1/8252 0/4262 - - - - - - -
?/? c.257+13T>A r.(=) p.(=) g.31007063T>A Copied from the Exome Variant Server TCN2_000024 2/13004 1/8600 1/4404 - - - - - - -
?/? c.257+16C>G r.(=) p.(=) g.31007066C>G Copied from the Exome Variant Server TCN2_000025 3/13004 0/8600 3/4404 - - - - - - -
?/? c.258-16A>G r.(=) p.(=) g.31008844A>G Copied from the Exome Variant Server TCN2_000026 2/13006 2/8600 0/4406 - - - - - - -
?/? c.265T>C r.(?) p.(Phe89Leu) g.31008867T>C Copied from the Exome Variant Server TCN2_000027 183/13006 164/8600 19/4406 - - - - - - -
?/? c.279C>T r.(=) p.(=) g.31008881C>T Copied from the Exome Variant Server TCN2_000028 4/13006 2/8600 2/4406 - - - - - - -
?/? c.280G>A r.(?) p.(Gly94Ser) g.31008882G>A Copied from the Exome Variant Server TCN2_000029 23/13006 22/8600 1/4406 - - - - - - -
?/? c.296A>C r.(?) p.(Lys99Thr) g.31008898A>C Copied from the Exome Variant Server TCN2_000030 21/13006 0/8600 21/4406 - - - - - - -
?/? c.353T>C r.(?) p.(Phe118Ser) g.31008955T>C Copied from the Exome Variant Server TCN2_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.360G>A r.(=) p.(=) g.31008962G>A Copied from the Exome Variant Server TCN2_000032 42/13006 4/8600 38/4406 - - - - - - -
?/? c.364C>G r.(?) p.(His122Asp) g.31008966C>G Copied from the Exome Variant Server TCN2_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.368A>G r.(?) p.(Lys123Arg) g.31008970A>G Copied from the Exome Variant Server TCN2_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.386C>T r.(?) p.(Ser129Leu) g.31008988C>T Copied from the Exome Variant Server TCN2_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.427+8_427+9insA r.(=) p.(=) g.31009037_31009038insA Copied from the Exome Variant Server TCN2_000036 1/12518 1/8254 0/4264 - - - - - - -
?/? c.427+17C>T r.(=) p.(=) g.31009046C>T Copied from the Exome Variant Server TCN2_000037 43/13006 1/8600 42/4406 - - - - - - -
?/? c.427+18G>A r.(=) p.(=) g.31009047G>A Copied from the Exome Variant Server TCN2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.427+24G>A r.(=) p.(=) g.31009053G>A Copied from the Exome Variant Server TCN2_000039 2/13006 0/8600 2/4406 - - - - - - -
?/? c.427+35G>A r.(=) p.(=) g.31009064G>A Copied from the Exome Variant Server TCN2_000040 35/13006 31/8600 4/4406 - - - - - - -
?/? c.428-31G>A r.(=) p.(=) g.31010305G>A Copied from the Exome Variant Server TCN2_000041 40/13006 3/8600 37/4406 - - - - - - -
?/? c.428-23C>T r.(=) p.(=) g.31010313C>T Copied from the Exome Variant Server TCN2_000042 186/13006 0/8600 186/4406 - - - - - - -
?/? c.428-19C>G r.(=) p.(=) g.31010317C>G Copied from the Exome Variant Server TCN2_000043 1/13006 1/8600 0/4406 - - - - - - -
?/? c.428-15T>C r.(=) p.(=) g.31010321T>C Copied from the Exome Variant Server TCN2_000044 2/13006 2/8600 0/4406 - - - - - - -
?/? c.428-4T>C r.spl? p.? g.31010332T>C Copied from the Exome Variant Server TCN2_000045 21/13006 0/8600 21/4406 - - - - - - -
?/? c.459C>T r.(=) p.(=) g.31010367C>T Copied from the Exome Variant Server TCN2_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.469T>C r.(?) p.(Tyr157His) g.31010377T>C Copied from the Exome Variant Server TCN2_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.495_496del r.(?) p.(Leu166Profs*7) g.31010403_31010404del Copied from the Exome Variant Server TCN2_000048 131/12518 94/8254 37/4264 - - - - - - -
?/? c.501C>T r.(=) p.(=) g.31010409C>T Copied from the Exome Variant Server TCN2_000049 3/13006 3/8600 0/4406 - - - - - - -
?/? c.509G>A r.(?) p.(Arg170Gln) g.31010417G>A Copied from the Exome Variant Server TCN2_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.523G>A r.(?) p.(Val175Met) g.31010431G>A Copied from the Exome Variant Server TCN2_000051 16/13006 0/8600 16/4406 - - - - - - -
?/? c.539T>C r.(?) p.(Leu180Pro) g.31010447T>C Copied from the Exome Variant Server TCN2_000052 4/13006 0/8600 4/4406 - - - - - - -
?/? c.542A>G r.(?) p.(Tyr181Cys) g.31010450A>G Copied from the Exome Variant Server TCN2_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.544G>A r.(?) p.(Ala182Thr) g.31010452G>A Copied from the Exome Variant Server TCN2_000054 1/13006 0/8600 1/4406 - - - - - - -
?/? c.554C>T r.(?) p.(Pro185Leu) g.31010462C>T Copied from the Exome Variant Server TCN2_000055 26/13006 0/8600 26/4406 - - - - - - -
?/? c.567C>T r.(=) p.(=) g.31010475C>T Copied from the Exome Variant Server TCN2_000056 2/13006 2/8600 0/4406 - - - - - - -
?/? c.572A>G r.(?) p.(His191Arg) g.31010480A>G Copied from the Exome Variant Server TCN2_000057 4/13006 0/8600 4/4406 - - - - - - -
?/? c.580+7A>G r.(=) p.(=) g.31010495A>G Copied from the Exome Variant Server TCN2_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.580+14A>C r.(=) p.(=) g.31010502A>C Copied from the Exome Variant Server TCN2_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.580+16C>T r.(=) p.(=) g.31010504C>T Copied from the Exome Variant Server TCN2_000060 4/13006 2/8600 2/4406 - - - - - - -
?/? c.580+20C>T r.(=) p.(=) g.31010508C>T Copied from the Exome Variant Server TCN2_000061 2/13006 2/8600 0/4406 - - - - - - -
?/? c.580+37_580+40del r.(=) p.(=) g.31010525_31010528del Copied from the Exome Variant Server TCN2_000062 1/12518 0/8254 1/4264 - - - - - - -
?/? c.581-47C>T r.(=) p.(=) g.31011241C>T Copied from the Exome Variant Server TCN2_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.581-33C>T r.(=) p.(=) g.31011255C>T Copied from the Exome Variant Server TCN2_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.581-22A>G r.(=) p.(=) g.31011266A>G Copied from the Exome Variant Server TCN2_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.581-8A>C r.(=) p.(=) g.31011280A>C Copied from the Exome Variant Server TCN2_000066 1454/13006 134/8600 1320/4406 - - - - - - -
?/? c.623G>A r.(?) p.(Arg208His) g.31011330G>A Copied from the Exome Variant Server TCN2_000067 18/13006 0/8600 18/4406 - - - - - - -
?/? c.641G>A r.(?) p.(Gly214Asp) g.31011348G>A Copied from the Exome Variant Server TCN2_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.643C>T r.(?) p.(Arg215Trp) g.31011350C>T Copied from the Exome Variant Server TCN2_000069 1102/13006 58/8600 1044/4406 - - - - - - -
?/? c.667A>G r.(?) p.(Ile223Val) g.31011374A>G Copied from the Exome Variant Server TCN2_000070 3/13006 2/8600 1/4406 - - - - - - -
?/? c.680G>C r.(?) p.(Arg227Pro) g.31011387G>C Copied from the Exome Variant Server TCN2_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.701A>C r.(?) p.(Gln234Pro) g.31011408A>C Copied from the Exome Variant Server TCN2_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.720T>C r.(=) p.(=) g.31011427T>C Copied from the Exome Variant Server TCN2_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.737C>T r.(?) p.(Thr246Ile) g.31011444C>T Copied from the Exome Variant Server TCN2_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.753+32C>G r.(=) p.(=) g.31011492C>G Copied from the Exome Variant Server TCN2_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.753+45_753+46del r.(=) p.(=) g.31011505_31011506del Copied from the Exome Variant Server TCN2_000076 1996/12516 1801/8254 195/4262 - - - - - - -
?/? c.753+46_753+47del r.(=) p.(=) g.31011506_31011507del Copied from the Exome Variant Server TCN2_000077 1988/12516 1794/8254 194/4262 - - - - - - -
?/? c.754-39C>T r.(=) p.(=) g.31011549C>T Copied from the Exome Variant Server TCN2_000078 4/13006 1/8600 3/4406 - - - - - - -
?/? c.754-31T>C r.(=) p.(=) g.31011557T>C Copied from the Exome Variant Server TCN2_000079 8234/13006 4864/8600 3370/4406 - - - - - - -
?/? c.754-24C>T r.(=) p.(=) g.31011564C>T Copied from the Exome Variant Server TCN2_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.754-22C>G r.(=) p.(=) g.31011566C>G Copied from the Exome Variant Server TCN2_000081 2/13006 0/8600 2/4406 - - - - - - -
?/? c.756C>G r.(?) p.(Phe252Leu) g.31011590C>G Copied from the Exome Variant Server TCN2_000082 3/13006 0/8600 3/4406 - - - - - - -
?/? c.776G>C r.(?) p.(Arg259Pro) g.31011610G>C Copied from the Exome Variant Server TCN2_000083 8237/13006 4865/8600 3372/4406 - - - - - - -
?/? c.784G>C r.(?) p.(Glu262Gln) g.31011618G>C Copied from the Exome Variant Server TCN2_000084 6/13006 0/8600 6/4406 - - - - - - -
?/? c.809C>T r.(?) p.(Ala270Val) g.31011643C>T Copied from the Exome Variant Server TCN2_000085 5/13006 5/8600 0/4406 - - - - - - -
?/? c.810G>A r.(=) p.(=) g.31011644G>A Copied from the Exome Variant Server TCN2_000086 13/13006 11/8600 2/4406 - - - - - - -
?/? c.840T>C r.(=) p.(=) g.31011674T>C Copied from the Exome Variant Server TCN2_000087 121/13006 5/8600 116/4406 - - - - - - -
?/? c.855T>A r.(?) p.(Asn285Lys) g.31011689T>A Copied from the Exome Variant Server TCN2_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.859C>T r.(?) p.(Leu287Phe) g.31011693C>T Copied from the Exome Variant Server TCN2_000089 2/13006 2/8600 0/4406 - - - - - - -
?/? c.877C>T r.(=) p.(=) g.31011711C>T Copied from the Exome Variant Server TCN2_000090 44/13006 37/8600 7/4406 - - - - - - -
?/? c.882C>T r.(=) p.(=) g.31011716C>T Copied from the Exome Variant Server TCN2_000091 2/13006 2/8600 0/4406 - - - - - - -
?/? c.903C>T r.(=) p.(=) g.31011737C>T Copied from the Exome Variant Server TCN2_000092 6/13006 6/8600 0/4406 - - - - - - -
?/? c.921A>C r.(=) p.(=) g.31011755A>C Copied from the Exome Variant Server TCN2_000093 3/13006 3/8600 0/4406 - - - - - - -
?/? c.940+4G>A r.spl? p.? g.31011778G>A Copied from the Exome Variant Server TCN2_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.940+11T>C r.(=) p.(=) g.31011785T>C Copied from the Exome Variant Server TCN2_000095 2/13006 2/8600 0/4406 - - - - - - -
?/? c.940+45C>T r.(=) p.(=) g.31011819C>T Copied from the Exome Variant Server TCN2_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.940+46G>T r.(=) p.(=) g.31011820G>T Copied from the Exome Variant Server TCN2_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.941-51C>A r.(=) p.(=) g.31013266C>A Copied from the Exome Variant Server TCN2_000098 2/13006 0/8600 2/4406 - - - - - - -
?/? c.941-46C>G r.(=) p.(=) g.31013271C>G Copied from the Exome Variant Server TCN2_000099 3/13006 3/8600 0/4406 - - - - - - -
?/? c.941-33C>T r.(=) p.(=) g.31013284C>T Copied from the Exome Variant Server TCN2_000100 19/13006 2/8600 17/4406 - - - - - - -
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