All transcript variants in gene TTC37

Information The variants shown are described using the NM_014639.3 transcript reference sequence.

285 entries on 3 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     
?/? c.-1-49G>T r.(=) p.(=) g.94882904C>A Copied from the Exome Variant Server TTC37_000284 1/13004 1/8598 0/4406
?/? c.-1-31G>A r.(=) p.(=) g.94882886C>T Copied from the Exome Variant Server TTC37_000282 3/13004 3/8598 0/4406
?/? c.5C>G r.(?) p.(Ser2Cys) g.94882850G>C Copied from the Exome Variant Server TTC37_000280 1/13004 0/8598 1/4406
?/? c.21G>A r.(=) p.(=) g.94882834C>T Copied from the Exome Variant Server TTC37_000278 2/13004 0/8598 2/4406
?/? c.90+41C>T r.(=) p.(=) g.94882724G>A Copied from the Exome Variant Server TTC37_000276 1/13000 0/8594 1/4406
?/? c.91-42C>T r.(=) p.(=) g.94879073G>A Copied from the Exome Variant Server TTC37_000274 1/12978 1/8600 0/4378
?/? c.94G>C r.(?) p.(Val32Leu) g.94879028C>G Copied from the Exome Variant Server TTC37_000285 1/13006 0/8600 1/4406
?/? c.130G>A r.(?) p.(Val44Ile) g.94878992C>T Copied from the Exome Variant Server TTC37_000283 195/13006 7/8600 188/4406
?/? c.156A>G r.(=) p.(=) g.94878966T>C Copied from the Exome Variant Server TTC37_000281 1/13006 0/8600 1/4406
?/? c.210G>A r.(=) p.(=) g.94878912C>T Copied from the Exome Variant Server TTC37_000279 5/13006 2/8600 3/4406
?/? c.234+21del r.(=) p.(=) g.94878867del Copied from the Exome Variant Server TTC37_000277 38/12520 20/8254 18/4266
?/? c.234+21dup r.(=) p.(=) g.94878867dup Copied from the Exome Variant Server TTC37_000275 42/12520 23/8254 19/4266
?/? c.234+30T>C r.(=) p.(=) g.94878858A>G Copied from the Exome Variant Server TTC37_000273 1/13006 1/8600 0/4406
?/? c.234+48del r.(=) p.(=) g.94878840del Copied from the Exome Variant Server TTC37_000272 39/12514 16/8252 23/4262
?/? c.234+48dup r.(=) p.(=) g.94878840dup Copied from the Exome Variant Server TTC37_000271 36/12514 18/8252 18/4262
?/? c.234+51A>G r.(=) p.(=) g.94878837T>C Copied from the Exome Variant Server TTC37_000270 170/13002 0/8598 170/4404
?/? c.267C>T r.(=) p.(=) g.94877578G>A Copied from the Exome Variant Server TTC37_000269 1/13004 1/8598 0/4406
?/? c.276T>C r.(=) p.(=) g.94877569A>G Copied from the Exome Variant Server TTC37_000268 1/13004 1/8598 0/4406
?/? c.306G>A r.(=) p.(=) g.94877539C>T Copied from the Exome Variant Server TTC37_000267 1/13002 0/8596 1/4406
?/? c.326+46T>G r.(=) p.(=) g.94877473A>C Copied from the Exome Variant Server TTC37_000266 1/12994 0/8594 1/4400
?/? c.327-33C>G r.(=) p.(=) g.94877117G>C Copied from the Exome Variant Server TTC37_000265 18/13004 14/8598 4/4406
?/? c.327-28G>C r.(=) p.(=) g.94877112C>G Copied from the Exome Variant Server TTC37_000264 2/13006 2/8600 0/4406
?/? c.364C>T r.(?) p.(Leu122Phe) g.94877047G>A Copied from the Exome Variant Server TTC37_000263 1/13006 0/8600 1/4406
?/? c.375A>G r.(=) p.(=) g.94877036T>C Copied from the Exome Variant Server TTC37_000262 1/13006 1/8600 0/4406
?/? c.402+47C>T r.(=) p.(=) g.94876962G>A Copied from the Exome Variant Server TTC37_000261 2/13004 1/8598 1/4406
?/? c.403-42T>C r.(=) p.(=) g.94876576A>G Copied from the Exome Variant Server TTC37_000260 53/13002 0/8598 53/4404
?/? c.410G>A r.(?) p.(Arg137Gln) g.94876527C>T Copied from the Exome Variant Server TTC37_000259 9/13006 0/8600 9/4406
?/? c.436C>T r.(?) p.(Arg146Trp) g.94876501G>A Copied from the Exome Variant Server TTC37_000258 2/13006 2/8600 0/4406
?/? c.453A>G r.(=) p.(=) g.94876484T>C Copied from the Exome Variant Server TTC37_000257 2/13006 2/8600 0/4406
?/? c.521A>C r.(?) p.(Gln174Pro) g.94876416T>G Copied from the Exome Variant Server TTC37_000256 3/13006 0/8600 3/4406
?/? c.543+29T>C r.(=) p.(=) g.94876365A>G Copied from the Exome Variant Server TTC37_000255 2/13006 2/8600 0/4406
?/? c.585G>A r.(=) p.(=) g.94872804C>T Copied from the Exome Variant Server TTC37_000254 62/12994 0/8588 62/4406
?/? c.590C>T r.(?) p.(Pro197Leu) g.94872799G>A Copied from the Exome Variant Server TTC37_000253 1/12996 1/8592 0/4404
?/? c.614A>G r.(?) p.(Tyr205Cys) g.94872775T>C Copied from the Exome Variant Server TTC37_000252 1/12996 0/8594 1/4402
?/? c.642+25A>T r.(=) p.(=) g.94872722T>A Copied from the Exome Variant Server TTC37_000251 1/12990 0/8586 1/4404
?/? c.642+51G>C r.(=) p.(=) g.94872696C>G Copied from the Exome Variant Server TTC37_000250 1/12986 0/8584 1/4402
?/? c.643-24G>C r.(=) p.(=) g.94872653C>G Copied from the Exome Variant Server TTC37_000249 1/12998 0/8592 1/4406
?/? c.751+39T>A r.(=) p.(=) g.94872482A>T Copied from the Exome Variant Server TTC37_000248 10/12998 7/8594 3/4404
?/? c.784_786del r.(?) p.(Cys262del) g.94865899_94865901del Copied from the Exome Variant Server TTC37_000247 2/12520 0/8254 2/4266
?/? c.821G>A r.(?) p.(Gly274Asp) g.94865864C>T Copied from the Exome Variant Server TTC37_000246 1/13006 1/8600 0/4406
?/? c.836G>C r.(?) p.(Gly279Ala) g.94865849C>G Copied from the Exome Variant Server TTC37_000245 1/13006 1/8600 0/4406
?/? c.838A>T r.(?) p.(Ile280Phe) g.94865847T>A Copied from the Exome Variant Server TTC37_000244 1/13006 1/8600 0/4406
?/? c.860A>G r.(?) p.(Lys287Arg) g.94865825T>C Copied from the Exome Variant Server TTC37_000243 28/13006 0/8600 28/4406
?/? c.860del r.(?) p.(Lys287Serfs*9) g.94865825del Copied from the Exome Variant Server TTC37_000242 19/12520 14/8254 5/4266
?/? c.887C>A r.(?) p.(Thr296Lys) g.94865798G>T Copied from the Exome Variant Server TTC37_000241 1/13006 1/8600 0/4406
?/? c.892+27C>T r.(=) p.(=) g.94865766G>A Copied from the Exome Variant Server TTC37_000240 3/13004 0/8598 3/4406
?/? c.892+28G>A r.(=) p.(=) g.94865765C>T Copied from the Exome Variant Server TTC37_000239 18/13004 0/8598 18/4406
?/? c.893-52A>G r.(=) p.(=) g.94864858T>C Copied from the Exome Variant Server TTC37_000238 1/7272 0/4618 1/2654
?/? c.893-48A>G r.(=) p.(=) g.94864854T>C Copied from the Exome Variant Server TTC37_000237 1/13006 1/8600 0/4406
?/? c.964C>T r.(?) p.(Pro322Ser) g.94864735G>A Copied from the Exome Variant Server TTC37_000236 1/13006 1/8600 0/4406
?/? c.994+44C>G r.(=) p.(=) g.94864661G>C Copied from the Exome Variant Server TTC37_000235 2/13006 1/8600 1/4406
?/? c.995-48A>T r.(=) p.(=) g.94863904T>A Copied from the Exome Variant Server TTC37_000234 28/12992 0/8594 28/4398
?/? c.995-11A>G r.(=) p.(=) g.94863867T>C Copied from the Exome Variant Server TTC37_000232 1/13004 1/8598 0/4406
?/? c.1027G>T r.(?) p.(Gly343Cys) g.94863824C>A Copied from the Exome Variant Server TTC37_000230 2/13006 0/8600 2/4406
?/? c.1032C>T r.(=) p.(=) g.94863819G>A Copied from the Exome Variant Server TTC37_000228 2/13006 0/8600 2/4406
?/? c.1052T>G r.(?) p.(Leu351Arg) g.94863799A>C Copied from the Exome Variant Server TTC37_000226 2/13006 0/8600 2/4406
?/? c.1071del r.(?) p.(Glu358Argfs*3) g.94863780del Copied from the Exome Variant Server TTC37_000233 1/12520 0/8254 1/4266
?/? c.1129G>C r.(?) p.(Asp377His) g.94863722C>G Copied from the Exome Variant Server TTC37_000231 1/13006 1/8600 0/4406
?/? c.1134+21_1134+22insT r.(=) p.(=) g.94863695_94863696insA Copied from the Exome Variant Server TTC37_000229 1/12518 1/8254 0/4264
?/? c.1134+23_1134+25del r.(=) p.(=) g.94863692_94863694del Copied from the Exome Variant Server TTC37_000227 13/12518 9/8254 4/4264
?/? c.1134+41C>G r.(=) p.(=) g.94863676G>C Copied from the Exome Variant Server TTC37_000225 4/13006 3/8600 1/4406
?/? c.1135-50G>A r.(=) p.(=) g.94861427C>T Copied from the Exome Variant Server TTC37_000224 1/12932 1/8580 0/4352
?/? c.1135-38A>G r.(=) p.(=) g.94861415T>C Copied from the Exome Variant Server TTC37_000223 2/12966 0/8586 2/4380
?/? c.1148A>T r.(?) p.(Asp383Val) g.94861364T>A Copied from the Exome Variant Server TTC37_000222 1/13004 0/8600 1/4404
?/? c.1187A>G r.(?) p.(Tyr396Cys) g.94861325T>C Copied from the Exome Variant Server TTC37_000221 1/13004 1/8600 0/4404
?/? c.1189C>T r.(?) p.(Arg397Trp) g.94861323G>A Copied from the Exome Variant Server TTC37_000220 1/13004 1/8600 0/4404
?/? c.1222-12del r.(=) p.(=) g.94861217del Copied from the Exome Variant Server TTC37_000219 1/12518 1/8254 0/4264
?/? c.1259C>T r.(?) p.(Ala420Val) g.94861168G>A Copied from the Exome Variant Server TTC37_000218 2/13006 1/8600 1/4406
?/? c.1309C>G r.(?) p.(Leu437Val) g.94861118G>C Copied from the Exome Variant Server TTC37_000217 3120/13004 1410/8600 1710/4404
?/? c.1325+18G>A r.(=) p.(=) g.94861084C>T Copied from the Exome Variant Server TTC37_000216 1/13006 1/8600 0/4406
?/? c.1325+19C>T r.(=) p.(=) g.94861083G>A Copied from the Exome Variant Server TTC37_000215 2/13006 2/8600 0/4406
?/? c.1325+34A>G r.(=) p.(=) g.94861068T>C Copied from the Exome Variant Server TTC37_000214 1/13006 1/8600 0/4406
?/? c.1325+47T>C r.(=) p.(=) g.94861055A>G Copied from the Exome Variant Server TTC37_000213 131/12998 1/8596 130/4402
?/? c.1326-34T>C r.(=) p.(=) g.94860329A>G Copied from the Exome Variant Server TTC37_000212 45/13002 42/8600 3/4402
?/? c.1326-33A>G r.(=) p.(=) g.94860328T>C Copied from the Exome Variant Server TTC37_000211 1/13004 1/8600 0/4404
?/? c.1326-10G>T r.(=) p.(=) g.94860305C>A Copied from the Exome Variant Server TTC37_000210 124/13006 1/8600 123/4406
?/? c.1353C>A r.(=) p.(=) g.94860268G>T Copied from the Exome Variant Server TTC37_000209 1/13006 1/8600 0/4406
?/? c.1354G>A r.(?) p.(Glu452Lys) g.94860267C>T Copied from the Exome Variant Server TTC37_000208 1/13006 1/8600 0/4406
?/? c.1374C>G r.(?) p.(Tyr458*) g.94860247G>C Copied from the Exome Variant Server TTC37_000207 1/13006 1/8600 0/4406
?/? c.1392C>T r.(=) p.(=) g.94860229G>A Copied from the Exome Variant Server TTC37_000206 6/13006 3/8600 3/4406
?/? c.1427C>G r.(?) p.(Thr476Arg) g.94860194G>C Copied from the Exome Variant Server TTC37_000205 5/13006 1/8600 4/4406
?/? c.1446T>C r.(=) p.(=) g.94860175A>G Copied from the Exome Variant Server TTC37_000204 2/13006 0/8600 2/4406
?/? c.1450A>T r.(?) p.(Lys484*) g.94860171T>A Copied from the Exome Variant Server TTC37_000203 1/13006 1/8600 0/4406
?/? c.1452+18A>G r.(=) p.(=) g.94860151T>C Copied from the Exome Variant Server TTC37_000202 1/13006 1/8600 0/4406
?/? c.1452+39G>A r.(=) p.(=) g.94860130C>T Copied from the Exome Variant Server TTC37_000201 2/12994 0/8594 2/4400
?/? c.1499G>T r.(?) p.(Gly500Val) g.94859492C>A Copied from the Exome Variant Server TTC37_000200 1/13006 1/8600 0/4406
?/? c.1510A>G r.(?) p.(Arg504Gly) g.94859481T>C Copied from the Exome Variant Server TTC37_000199 1/13006 1/8600 0/4406
?/? c.1513G>T r.(?) p.(Asp505Tyr) g.94859478C>A Copied from the Exome Variant Server TTC37_000198 1/13006 1/8600 0/4406
?/? c.1515C>T r.(=) p.(=) g.94859476G>A Copied from the Exome Variant Server TTC37_000197 2/13006 1/8600 1/4406
?/? c.1516G>A r.(?) p.(Val506Ile) g.94859475C>T Copied from the Exome Variant Server TTC37_000196 2/13006 1/8600 1/4406
?/? c.1632+18T>G r.(=) p.(=) g.94859341A>C Copied from the Exome Variant Server TTC37_000195 4/13006 0/8600 4/4406
?/? c.1632+37_1632+38insT r.(=) p.(=) g.94859321_94859322insA Copied from the Exome Variant Server TTC37_000194 6/12520 2/8254 4/4266
?/? c.1632+40C>A r.(=) p.(=) g.94859319G>T Copied from the Exome Variant Server TTC37_000193 1/13006 0/8600 1/4406
?/? c.1633-18G>A r.(=) p.(=) g.94859048C>T Copied from the Exome Variant Server TTC37_000192 18/13006 0/8600 18/4406
?/? c.1633-2A>G r.spl? p.? g.94859032T>C Copied from the Exome Variant Server TTC37_000191 2/13006 0/8600 2/4406
?/? c.1648A>G r.(?) p.(Ile550Val) g.94859015T>C Copied from the Exome Variant Server TTC37_000190 1/13006 1/8600 0/4406
?/? c.1666C>T r.(?) p.(Gln556*) g.94858997G>A Copied from the Exome Variant Server TTC37_000189 1/13006 0/8600 1/4406
?/? c.1685C>T r.(?) p.(Thr562Met) g.94858978G>A Copied from the Exome Variant Server TTC37_000188 2/13006 0/8600 2/4406
?/? c.1726A>G r.(?) p.(Lys576Glu) g.94858937T>C Copied from the Exome Variant Server TTC37_000187 1/13006 1/8600 0/4406
?/? c.1754C>T r.(?) p.(Ala585Val) g.94858909G>A Copied from the Exome Variant Server TTC37_000186 2/13006 0/8600 2/4406
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