Unique variants in gene TLE2

Information The variants shown are described using the NM_003260.4 transcript reference sequence.

228 entries on 3 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-10G>A r.(=) p.(=) g.3028912C>T Copied from the Exome Variant Server TLE2_000228 230/11788 2/8128 228/3660
1 c.24+6T>C r.(=) p.(=) g.3028873A>G Copied from the Exome Variant Server TLE2_000227 34/11724 0/8106 34/3618
1 c.24+8C>G r.(=) p.(=) g.3028871G>C Copied from the Exome Variant Server TLE2_000226 4670/11712 2756/8104 1914/3608
1 c.24+33T>C r.(=) p.(=) g.3028846A>G Copied from the Exome Variant Server TLE2_000225 9/11718 0/8104 9/3614
1 c.25-18C>T r.(=) p.(=) g.3028819G>A Copied from the Exome Variant Server TLE2_000224 43/11732 0/8114 43/3618
1 c.25-12C>T r.(=) p.(=) g.3028813G>A Copied from the Exome Variant Server TLE2_000223 1/11712 1/8104 0/3608
1 c.25-8C>G r.(=) p.(=) g.3028809G>C Copied from the Exome Variant Server TLE2_000222 7/11708 7/8106 0/3602
1 c.25-7C>T r.(=) p.(=) g.3028808G>A Copied from the Exome Variant Server TLE2_000221 1/11706 1/8108 0/3598
1 c.25-3C>A r.spl? p.? g.3028804G>T Copied from the Exome Variant Server TLE2_000220 6/11670 0/8096 6/3574
1 c.25-3del r.spl? p.? g.3028804del Copied from the Exome Variant Server TLE2_000219 250/11164 173/7724 77/3440
1 c.25-3dup r.spl? p.? g.3028804dup Copied from the Exome Variant Server TLE2_000218 84/11164 34/7724 50/3440
1 c.60G>A r.(=) p.(=) g.3028766C>T Copied from the Exome Variant Server TLE2_000217 14/11740 0/8134 14/3606
1 c.122+24C>T r.(=) p.(=) g.3028680G>A Copied from the Exome Variant Server TLE2_000216 1/11632 1/8074 0/3558
1 c.123-21T>C r.(=) p.(=) g.3028401A>G Copied from the Exome Variant Server TLE2_000215 32/12040 1/8230 31/3810
1 c.129G>A r.(=) p.(=) g.3028374C>T Copied from the Exome Variant Server TLE2_000214 1/12216 1/8320 0/3896
1 c.135A>G r.(=) p.(=) g.3028368T>C Copied from the Exome Variant Server TLE2_000213 8/12264 0/8334 8/3930
1 c.174A>G r.(=) p.(=) g.3028329T>C Copied from the Exome Variant Server TLE2_000212 1/12386 1/8384 0/4002
1 c.185T>C r.(?) p.(Met62Thr) g.3028318A>G Copied from the Exome Variant Server TLE2_000211 1/12386 1/8380 0/4006
1 c.186+17T>C r.(=) p.(=) g.3028300A>G Copied from the Exome Variant Server TLE2_000210 27/12360 26/8352 1/4008
1 c.186+18G>A r.(=) p.(=) g.3028299C>T Copied from the Exome Variant Server TLE2_000209 1/12352 0/8346 1/4006
1 c.186+38G>A r.(=) p.(=) g.3028279C>T Copied from the Exome Variant Server TLE2_000208 16/12296 15/8332 1/3964
1 c.186+52G>A r.(=) p.(=) g.3028265C>T Copied from the Exome Variant Server TLE2_000207 1/4566 1/3182 0/1384
1 c.187-59A>G r.(=) p.(=) g.3027930T>C Copied from the Exome Variant Server TLE2_000206 1/4566 1/3182 0/1384
1 c.187-48G>A r.(=) p.(=) g.3027919C>T Copied from the Exome Variant Server TLE2_000205 25/12128 23/8270 2/3858
1 c.187-46C>T r.(=) p.(=) g.3027917G>A Copied from the Exome Variant Server TLE2_000204 1/12130 0/8272 1/3858
1 c.187-20_187-19insA r.(=) p.(=) g.3027890_3027891insT Copied from the Exome Variant Server TLE2_000203 1/11646 0/7924 1/3722
1 c.187-9C>T r.(=) p.(=) g.3027880G>A Copied from the Exome Variant Server TLE2_000202 1/12130 1/8280 0/3850
1 c.210C>A r.(=) p.(=) g.3027848G>T Copied from the Exome Variant Server TLE2_000201 1/12114 1/8254 0/3860
1 c.213C>T r.(=) p.(=) g.3027845G>A Copied from the Exome Variant Server TLE2_000200 2/12106 1/8252 1/3854
1 c.231+9G>A r.(=) p.(=) g.3027818C>T Copied from the Exome Variant Server TLE2_000199 1/12056 0/8234 1/3822
1 c.231+19_231+20insTTAC r.(=) p.(=) g.3027807_3027808insGTAA Copied from the Exome Variant Server TLE2_000198 1/11544 0/7878 1/3666
1 c.231+63G>A r.(=) p.(=) g.3027764C>T Copied from the Exome Variant Server TLE2_000197 3/4566 3/3182 0/1384
1 c.231+69G>T r.(=) p.(=) g.3027758C>A Copied from the Exome Variant Server TLE2_000196 1/4566 1/3182 0/1384
1 c.232-33C>T r.(=) p.(=) g.3025113G>A Copied from the Exome Variant Server TLE2_000195 1/12024 0/8218 1/3806
1 c.232-16C>T r.(=) p.(=) g.3025096G>A Copied from the Exome Variant Server TLE2_000194 1/11994 1/8222 0/3772
1 c.255C>T r.(=) p.(=) g.3025057G>A Copied from the Exome Variant Server TLE2_000193 157/11916 2/8200 155/3716
1 c.265G>A r.(?) p.(Ala89Thr) g.3025047C>T Copied from the Exome Variant Server TLE2_000192 1/11900 1/8190 0/3710
1 c.274A>G r.(?) p.(Ile92Val) g.3025038T>C Copied from the Exome Variant Server TLE2_000191 1/11878 1/8186 0/3692
1 c.294+24G>C r.(=) p.(=) g.3024994C>G Copied from the Exome Variant Server TLE2_000190 1/11818 0/8130 1/3688
1 c.295-44C>T r.(=) p.(=) g.3019815G>A Copied from the Exome Variant Server TLE2_000189 1/12510 1/8398 0/4112
1 c.295-34A>G r.(=) p.(=) g.3019805T>C Copied from the Exome Variant Server TLE2_000188 1/12564 1/8422 0/4142
1 c.319G>A r.(?) p.(Val107Ile) g.3019747C>T Copied from the Exome Variant Server TLE2_000187 1/12656 1/8458 0/4198
1 c.322G>C r.(?) p.(Glu108Gln) g.3019744C>G Copied from the Exome Variant Server TLE2_000186 1/12644 0/8454 1/4190
1 c.325C>T r.(?) p.(Arg109Cys) g.3019741G>A Copied from the Exome Variant Server TLE2_000185 5/12640 3/8448 2/4192
1 c.328G>A r.(?) p.(Ala110Thr) g.3019738C>T Copied from the Exome Variant Server TLE2_000184 1/12620 0/8442 1/4178
1 c.352C>T r.(=) p.(=) g.3019714G>A Copied from the Exome Variant Server TLE2_000183 2/12552 0/8406 2/4146
1 c.369G>A r.(=) p.(=) g.3019697C>T Copied from the Exome Variant Server TLE2_000182 1/12426 0/8372 1/4054
1 c.369+27C>T r.(=) p.(=) g.3019670G>A Copied from the Exome Variant Server TLE2_000181 3/12216 0/8290 3/3926
1 c.369+37C>T r.(=) p.(=) g.3019660G>A Copied from the Exome Variant Server TLE2_000180 1484/12218 892/8286 592/3932
1 c.370-27C>T r.(=) p.(=) g.3019488G>A Copied from the Exome Variant Server TLE2_000179 4/9150 0/6328 4/2822
1 c.442G>A r.(?) p.(Gly148Ser) g.3019389C>T Copied from the Exome Variant Server TLE2_000178 6/11060 0/7510 6/3550
1 c.452C>T r.(?) p.(Thr151Met) g.3019379G>A Copied from the Exome Variant Server TLE2_000177 2/11434 2/7744 0/3690
1 c.453G>A r.(=) p.(=) g.3019378C>T Copied from the Exome Variant Server TLE2_000176 1/11566 1/7830 0/3736
1 c.521G>A r.(?) p.(Arg174His) g.3019310C>T Copied from the Exome Variant Server TLE2_000175 2/12162 2/8170 0/3992
1 c.525G>A r.(=) p.(=) g.3019306C>T Copied from the Exome Variant Server TLE2_000174 9/12224 0/8196 9/4028
1 c.550+15C>T r.(=) p.(=) g.3019266G>A Copied from the Exome Variant Server TLE2_000173 2/12250 1/8182 1/4068
1 c.550+17G>A r.(=) p.(=) g.3019264C>T Copied from the Exome Variant Server TLE2_000172 1/12192 1/8148 0/4044
1 c.550+19G>A r.(=) p.(=) g.3019262C>T Copied from the Exome Variant Server TLE2_000171 1/12208 0/8148 1/4060
1 c.551-72C>T r.(=) p.(=) g.3017929G>A Copied from the Exome Variant Server TLE2_000170 200/4566 1/3182 199/1384
1 c.551-65C>T r.(=) p.(=) g.3017922G>A Copied from the Exome Variant Server TLE2_000169 1/4566 0/3182 1/1384
1 c.551-61G>A r.(=) p.(=) g.3017918C>T Copied from the Exome Variant Server TLE2_000168 1/4566 0/3182 1/1384
1 c.551-42T>C r.(=) p.(=) g.3017899A>G Copied from the Exome Variant Server TLE2_000167 1/11936 0/8184 1/3752
1 c.551-31C>G r.(=) p.(=) g.3017888G>C Copied from the Exome Variant Server TLE2_000166 85/11962 77/8194 8/3768
1 c.564G>A r.(=) p.(=) g.3017844C>T Copied from the Exome Variant Server TLE2_000165 3/11958 0/8206 3/3752
1 c.570+9G>A r.(=) p.(=) g.3017829C>T Copied from the Exome Variant Server TLE2_000164 1/12002 1/8206 0/3796
1 c.570+14A>G r.(=) p.(=) g.3017824T>C Copied from the Exome Variant Server TLE2_000163 64/12012 1/8212 63/3800
1 c.570+18T>C r.(=) p.(=) g.3017820A>G Copied from the Exome Variant Server TLE2_000162 276/11996 1/8216 275/3780
1 c.570+38del r.(=) p.(=) g.3017800del Copied from the Exome Variant Server TLE2_000161 2/11516 0/7874 2/3642
1 c.570+39G>C r.(=) p.(=) g.3017799C>G Copied from the Exome Variant Server TLE2_000160 1/12006 0/8224 1/3782
1 c.570+45C>A r.(=) p.(=) g.3017793G>T Copied from the Exome Variant Server TLE2_000159 1/12040 1/8234 0/3806
1 c.570+50G>A r.(=) p.(=) g.3017788C>T Copied from the Exome Variant Server TLE2_000158 1/12046 0/8240 1/3806
1 c.571-19G>A r.(=) p.(=) g.3015777C>T Copied from the Exome Variant Server TLE2_000157 1/12230 1/8306 0/3924
1 c.584C>T r.(?) p.(Ser195Leu) g.3015745G>A Copied from the Exome Variant Server TLE2_000156 2/12410 0/8356 2/4054
1 c.614G>A r.(?) p.(Arg205Gln) g.3015715C>T Copied from the Exome Variant Server TLE2_000155 2/12616 2/8420 0/4196
1 c.626C>G r.(?) p.(Pro209Arg) g.3015703G>C Copied from the Exome Variant Server TLE2_000154 1/12650 1/8432 0/4218
1 c.637G>A r.(?) p.(Gly213Arg) g.3015692C>T Copied from the Exome Variant Server TLE2_000153 14/12674 14/8442 0/4232
1 c.642G>A r.(=) p.(=) g.3015687C>T Copied from the Exome Variant Server TLE2_000152 1/12686 1/8442 0/4244
1 c.678+21G>T r.(=) p.(=) g.3015630C>A Copied from the Exome Variant Server TLE2_000151 1/12554 0/8392 1/4162
1 c.678+33C>T r.(=) p.(=) g.3015618G>A Copied from the Exome Variant Server TLE2_000150 5/12472 4/8368 1/4104
1 c.679-69G>A r.(=) p.(=) g.3014681C>T Copied from the Exome Variant Server TLE2_000149 1/4566 1/3182 0/1384
1 c.679-63C>T r.(=) p.(=) g.3014675G>A Copied from the Exome Variant Server TLE2_000148 130/4566 124/3182 6/1384
1 c.679-52T>A r.(=) p.(=) g.3014664A>T Copied from the Exome Variant Server TLE2_000147 20/6558 18/4330 2/2228
1 c.679-35G>T r.(=) p.(=) g.3014647C>A Copied from the Exome Variant Server TLE2_000146 4374/12390 3893/8354 481/4036
1 c.679-27T>C r.(=) p.(=) g.3014639A>G Copied from the Exome Variant Server TLE2_000145 3822/12384 1581/8356 2241/4028
1 c.684C>T r.(=) p.(=) g.3014607G>A Copied from the Exome Variant Server TLE2_000144 6/12390 6/8366 0/4024
1 c.687C>T r.(=) p.(=) g.3014604G>A Copied from the Exome Variant Server TLE2_000143 7/12392 0/8364 7/4028
1 c.720C>T r.(=) p.(=) g.3014571G>A Copied from the Exome Variant Server TLE2_000142 2/12300 1/8328 1/3972
1 c.724-24T>C r.(=) p.(=) g.3013840A>G Copied from the Exome Variant Server TLE2_000141 2/12020 2/8228 0/3792
1 c.724-21A>G r.(=) p.(=) g.3013837T>C Copied from the Exome Variant Server TLE2_000140 1/12016 0/8228 1/3788
1 c.740C>A r.(?) p.(Pro247His) g.3013800G>T Copied from the Exome Variant Server TLE2_000139 3/12022 3/8214 0/3808
1 c.749C>T r.(?) p.(Pro250Leu) g.3013791G>A Copied from the Exome Variant Server TLE2_000138 1/12000 1/8210 0/3790
1 c.789T>G r.(=) p.(=) g.3013751A>C Copied from the Exome Variant Server TLE2_000137 1/12088 0/8236 1/3852
1 c.794G>A r.(?) p.(Arg265His) g.3013746C>T Copied from the Exome Variant Server TLE2_000136 5/12106 0/8238 5/3868
1 c.825G>A r.(=) p.(=) g.3013715C>T Copied from the Exome Variant Server TLE2_000135 1/12154 1/8252 0/3902
1 c.843A>T r.(=) p.(=) g.3013697T>A Copied from the Exome Variant Server TLE2_000134 1/12152 0/8248 1/3904
1 c.845C>T r.(?) p.(Pro282Leu) g.3013695G>A Copied from the Exome Variant Server TLE2_000133 1/12152 0/8250 1/3902
1 c.862G>A r.(?) p.(Glu288Lys) g.3013678C>T Copied from the Exome Variant Server TLE2_000132 3/12124 3/8242 0/3882
1 c.873+8G>A r.(=) p.(=) g.3013659C>T Copied from the Exome Variant Server TLE2_000131 7/12126 0/8244 7/3882
1 c.873+42C>T r.(=) p.(=) g.3013625G>A Copied from the Exome Variant Server TLE2_000130 1/12044 0/8206 1/3838
1 c.873+43C>T r.(=) p.(=) g.3013624G>A Copied from the Exome Variant Server TLE2_000129 598/12028 391/8204 207/3824
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