All transcript variants in gene EPHA1

Information The variants shown are described using the NM_005232.4 transcript reference sequence.

238 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.83-45C>T r.(=) p.(=) g.143104816G>A Copied from the Exome Variant Server EPHA1_000238 880/13006 807/8600 73/4406
?/? c.83-19_83-17del r.(=) p.(=) g.143104788_143104790del Copied from the Exome Variant Server EPHA1_000237 1/12494 0/8236 1/4258
?/? c.83-9C>A r.(=) p.(=) g.143104780G>T Copied from the Exome Variant Server EPHA1_000236 5/13006 0/8600 5/4406
?/? c.83-3C>T r.spl? p.? g.143104774G>A Copied from the Exome Variant Server EPHA1_000234 1/13006 1/8600 0/4406
?/? c.150+11G>C r.(=) p.(=) g.143104693C>G Copied from the Exome Variant Server EPHA1_000232 5/13006 5/8600 0/4406
?/? c.150+28G>A r.(=) p.(=) g.143104676C>T Copied from the Exome Variant Server EPHA1_000230 1/13006 1/8600 0/4406
?/? c.150+41A>G r.(=) p.(=) g.143104663T>C Copied from the Exome Variant Server EPHA1_000228 1/13006 0/8600 1/4406
?/? c.151-13T>A r.(=) p.(=) g.143098711A>T Copied from the Exome Variant Server EPHA1_000226 1/13006 1/8600 0/4406
?/? c.184C>A r.(?) p.(Pro62Thr) g.143098665G>T Copied from the Exome Variant Server EPHA1_000235 1/13006 1/8600 0/4406
?/? c.193A>G r.(?) p.(Met65Val) g.143098656T>C Copied from the Exome Variant Server EPHA1_000233 1/13006 1/8600 0/4406
?/? c.213G>T r.(?) p.(Met71Ile) g.143098636C>A Copied from the Exome Variant Server EPHA1_000231 1/13006 1/8600 0/4406
?/? c.217G>A r.(?) p.(Gly73Arg) g.143098632C>T Copied from the Exome Variant Server EPHA1_000229 1/13006 1/8600 0/4406
?/? c.241_246del r.(?) p.(Leu81_Arg82del) g.143098603_143098608del Copied from the Exome Variant Server EPHA1_000227 1/12518 0/8254 1/4264
?/? c.251A>G r.(?) p.(Asn84Ser) g.143098598T>C Copied from the Exome Variant Server EPHA1_000225 7/13006 3/8600 4/4406
?/? c.263G>A r.(?) p.(Arg88His) g.143098586C>T Copied from the Exome Variant Server EPHA1_000224 1/13006 1/8600 0/4406
?/? c.265G>A r.(?) p.(Gly89Arg) g.143098584C>T Copied from the Exome Variant Server EPHA1_000223 3/13006 3/8600 0/4406
?/? c.281G>A r.(?) p.(Arg94His) g.143098568C>T Copied from the Exome Variant Server EPHA1_000222 4/13006 4/8600 0/4406
?/? c.282C>T r.(=) p.(=) g.143098567G>A Copied from the Exome Variant Server EPHA1_000221 2/13006 2/8600 0/4406
?/? c.295C>A r.(?) p.(Leu99Met) g.143098554G>T Copied from the Exome Variant Server EPHA1_000220 2/13006 2/8600 0/4406
?/? c.300G>C r.(?) p.(Gln100His) g.143098549C>G Copied from the Exome Variant Server EPHA1_000219 6/13006 0/8600 6/4406
?/? c.310C>T r.(?) p.(Arg104Trp) g.143098539G>A Copied from the Exome Variant Server EPHA1_000218 1/13006 0/8600 1/4406
?/? c.311G>A r.(?) p.(Arg104Gln) g.143098538C>T Copied from the Exome Variant Server EPHA1_000217 1/13006 1/8600 0/4406
?/? c.339C>T r.(=) p.(=) g.143098510G>A Copied from the Exome Variant Server EPHA1_000216 2/13006 0/8600 2/4406
?/? c.433-45C>A r.(=) p.(=) g.143097191G>T Copied from the Exome Variant Server EPHA1_000215 1/12932 0/8556 1/4376
?/? c.433-29C>A r.(=) p.(=) g.143097175G>T Copied from the Exome Variant Server EPHA1_000214 3/12976 0/8582 3/4394
?/? c.461T>C r.(?) p.(Phe154Ser) g.143097118A>G Copied from the Exome Variant Server EPHA1_000213 2/13004 2/8598 0/4406
?/? c.463A>G r.(?) p.(Thr155Ala) g.143097116T>C Copied from the Exome Variant Server EPHA1_000212 1/13004 1/8598 0/4406
?/? c.469C>T r.(?) p.(Arg157*) g.143097110G>A Copied from the Exome Variant Server EPHA1_000211 1/13004 0/8598 1/4406
?/? c.479T>C r.(?) p.(Val160Ala) g.143097100A>G Copied from the Exome Variant Server EPHA1_000210 11748/13006 7935/8600 3813/4406
?/? c.490G>A r.(?) p.(Val164Met) g.143097089C>T Copied from the Exome Variant Server EPHA1_000209 4/13006 4/8600 0/4406
?/? c.498G>C r.(=) p.(=) g.143097081C>G Copied from the Exome Variant Server EPHA1_000208 1/13006 1/8600 0/4406
?/? c.505G>A r.(?) p.(Glu169Lys) g.143097074C>T Copied from the Exome Variant Server EPHA1_000207 1/13006 1/8600 0/4406
?/? c.533G>A r.(?) p.(Arg178His) g.143097046C>T Copied from the Exome Variant Server EPHA1_000206 4/13006 0/8600 4/4406
?/? c.561C>T r.(=) p.(=) g.143097018G>A Copied from the Exome Variant Server EPHA1_000205 6/12998 1/8592 5/4406
?/? c.564G>C r.(=) p.(=) g.143097015C>G Copied from the Exome Variant Server EPHA1_000204 35/13000 2/8594 33/4406
?/? c.566G>A r.(?) p.(Gly189Asp) g.143097013C>T Copied from the Exome Variant Server EPHA1_000203 1/13000 1/8594 0/4406
?/? c.608G>A r.(?) p.(Arg203His) g.143096971C>T Copied from the Exome Variant Server EPHA1_000202 1/12994 1/8592 0/4402
?/? c.652_653del r.(?) p.(Leu218Alafs*34) g.143096926_143096927del Copied from the Exome Variant Server EPHA1_000201 13/12494 7/8242 6/4252
?/? c.663C>T r.(=) p.(=) g.143096916G>A Copied from the Exome Variant Server EPHA1_000200 1/12992 1/8594 0/4398
?/? c.684G>A r.(=) p.(=) g.143096895C>T Copied from the Exome Variant Server EPHA1_000199 2/12998 1/8598 1/4400
?/? c.706C>T r.(?) p.(Arg236Trp) g.143096873G>A Copied from the Exome Variant Server EPHA1_000198 2/13004 1/8598 1/4406
?/? c.734C>A r.(?) p.(Pro245His) g.143096845G>T Copied from the Exome Variant Server EPHA1_000197 1/13006 1/8600 0/4406
?/? c.735C>T r.(=) p.(=) g.143096844G>A Copied from the Exome Variant Server EPHA1_000196 1/13006 1/8600 0/4406
?/? c.736del r.(?) p.(Arg246Alafs*14) g.143096843del Copied from the Exome Variant Server EPHA1_000195 7/12516 3/8254 4/4262
?/? c.750C>T r.(=) p.(=) g.143096829G>A Copied from the Exome Variant Server EPHA1_000194 6/13006 6/8600 0/4406
?/? c.759C>T r.(=) p.(=) g.143096820G>A Copied from the Exome Variant Server EPHA1_000193 1/13006 0/8600 1/4406
?/? c.768G>A r.(=) p.(=) g.143096811C>T Copied from the Exome Variant Server EPHA1_000192 1/13006 1/8600 0/4406
?/? c.770_777del r.(?) p.(Val257Glyfs*6) g.143096802_143096809del Copied from the Exome Variant Server EPHA1_000191 62/12518 47/8254 15/4264
?/? c.781C>T r.(?) p.(Arg261Trp) g.143096798G>A Copied from the Exome Variant Server EPHA1_000190 4/13006 1/8600 3/4406
?/? c.835+8C>T r.(=) p.(=) g.143096736G>A Copied from the Exome Variant Server EPHA1_000189 80/13000 1/8596 79/4404
?/? c.835+14C>T r.(=) p.(=) g.143096730G>A Copied from the Exome Variant Server EPHA1_000188 3/12998 0/8594 3/4404
?/? c.835+15G>A r.(=) p.(=) g.143096729C>T Copied from the Exome Variant Server EPHA1_000187 1/12998 1/8594 0/4404
?/? c.835+18G>C r.(=) p.(=) g.143096726C>G Copied from the Exome Variant Server EPHA1_000186 1/13000 1/8596 0/4404
?/? c.835+33C>T r.(=) p.(=) g.143096711G>A Copied from the Exome Variant Server EPHA1_000185 1/13000 0/8596 1/4404
?/? c.835+37C>T r.(=) p.(=) g.143096707G>A Copied from the Exome Variant Server EPHA1_000184 2/12998 1/8598 1/4400
?/? c.836-46G>A r.(=) p.(=) g.143096552C>T Copied from the Exome Variant Server EPHA1_000183 1/13006 1/8600 0/4406
?/? c.846C>T r.(=) p.(=) g.143096496G>A Copied from the Exome Variant Server EPHA1_000182 1/13006 1/8600 0/4406
?/? c.856C>A r.(=) p.(=) g.143096486G>T Copied from the Exome Variant Server EPHA1_000181 1/13006 1/8600 0/4406
?/? c.867G>A r.(?) p.(Met289Ile) g.143096475C>T Copied from the Exome Variant Server EPHA1_000180 4/13006 0/8600 4/4406
?/? c.875C>T r.(?) p.(Pro292Leu) g.143096467G>A Copied from the Exome Variant Server EPHA1_000179 1/13006 1/8600 0/4406
?/? c.880T>C r.(?) p.(Cys294Arg) g.143096462A>G Copied from the Exome Variant Server EPHA1_000178 1/13006 0/8600 1/4406
?/? c.922del r.(?) p.(Ala308Profs*32) g.143096420del Copied from the Exome Variant Server EPHA1_000177 48/12518 38/8254 10/4264
?/? c.923C>T r.(?) p.(Ala308Val) g.143096419G>A Copied from the Exome Variant Server EPHA1_000176 4/13006 2/8600 2/4406
?/? c.928A>C r.(?) p.(Ile310Leu) g.143096414T>G Copied from the Exome Variant Server EPHA1_000175 1/13006 1/8600 0/4406
?/? c.936C>T r.(=) p.(=) g.143096406G>A Copied from the Exome Variant Server EPHA1_000174 2/13006 1/8600 1/4406
?/? c.981G>T r.(=) p.(=) g.143096361C>A Copied from the Exome Variant Server EPHA1_000173 1/13002 1/8598 0/4404
?/? c.991+20C>T r.(=) p.(=) g.143096331G>A Copied from the Exome Variant Server EPHA1_000172 1/12990 0/8590 1/4400
?/? c.991+23G>C r.(=) p.(=) g.143096328C>G Copied from the Exome Variant Server EPHA1_000171 1/12992 1/8590 0/4402
?/? c.991+27A>G r.(=) p.(=) g.143096324T>C Copied from the Exome Variant Server EPHA1_000170 1/12984 1/8588 0/4396
?/? c.991+29C>G r.(=) p.(=) g.143096322G>C Copied from the Exome Variant Server EPHA1_000169 1/12980 1/8586 0/4394
?/? c.992-48G>T r.(=) p.(=) g.143096086C>A Copied from the Exome Variant Server EPHA1_000168 15/12488 0/8310 15/4178
?/? c.992-39C>T r.(=) p.(=) g.143096077G>A Copied from the Exome Variant Server EPHA1_000167 6/12678 6/8430 0/4248
?/? c.992-38G>A r.(=) p.(=) g.143096076C>T Copied from the Exome Variant Server EPHA1_000166 3/12730 0/8462 3/4268
?/? c.992-32G>A r.(=) p.(=) g.143096070C>T Copied from the Exome Variant Server EPHA1_000165 5/12756 4/8478 1/4278
?/? c.996C>A r.(=) p.(=) g.143096034G>T Copied from the Exome Variant Server EPHA1_000164 23/12918 0/8554 23/4364
?/? c.1002G>A r.(=) p.(=) g.143096028C>T Copied from the Exome Variant Server EPHA1_000163 3/12958 3/8572 0/4386
?/? c.1005C>T r.(=) p.(=) g.143096025G>A Copied from the Exome Variant Server EPHA1_000162 51/12974 0/8584 51/4390
?/? c.1010G>A r.(?) p.(Arg337Gln) g.143096020C>T Copied from the Exome Variant Server EPHA1_000161 8/12998 7/8594 1/4404
?/? c.1017G>A r.(=) p.(=) g.143096013C>T Copied from the Exome Variant Server EPHA1_000160 2/13004 2/8598 0/4406
?/? c.1025C>G r.(?) p.(Ser342Cys) g.143096005G>C Copied from the Exome Variant Server EPHA1_000159 1/13004 0/8598 1/4406
?/? c.1051C>T r.(?) p.(Arg351Cys) g.143095979G>A Copied from the Exome Variant Server EPHA1_000157 2/13006 2/8600 0/4406
?/? c.1073C>T r.(?) p.(Thr358Met) g.143095957G>A Copied from the Exome Variant Server EPHA1_000155 1/13006 1/8600 0/4406
?/? c.1078G>A r.(?) p.(Gly360Arg) g.143095952C>T Copied from the Exome Variant Server EPHA1_000153 1/13006 1/8600 0/4406
?/? c.1079_1080insG r.(?) p.(Arg361Thrfs*50) g.143095950_143095951insC Copied from the Exome Variant Server EPHA1_000158 2/12518 1/8254 1/4264
?/? c.1081C>T r.(?) p.(Arg361Cys) g.143095949G>A Copied from the Exome Variant Server EPHA1_000156 2/13006 2/8600 0/4406
?/? c.1082G>A r.(?) p.(Arg361His) g.143095948C>T Copied from the Exome Variant Server EPHA1_000154 1/13006 0/8600 1/4406
?/? c.1113C>G r.(=) p.(=) g.143095917G>C Copied from the Exome Variant Server EPHA1_000152 1/13006 1/8600 0/4406
?/? c.1123G>A r.(?) p.(Gly375Ser) g.143095907C>T Copied from the Exome Variant Server EPHA1_000151 2/13006 2/8600 0/4406
?/? c.1144C>G r.(?) p.(Pro382Ala) g.143095886G>C Copied from the Exome Variant Server EPHA1_000150 56/13004 0/8598 56/4406
?/? c.1155C>A r.(=) p.(=) g.143095875G>T Copied from the Exome Variant Server EPHA1_000149 1/13004 0/8598 1/4406
?/? c.1159G>A r.(?) p.(Gly387Arg) g.143095871C>T Copied from the Exome Variant Server EPHA1_000148 1/13004 0/8598 1/4406
?/? c.1161G>A r.(=) p.(=) g.143095869C>T Copied from the Exome Variant Server EPHA1_000147 1/13006 0/8600 1/4406
?/? c.1167C>T r.(=) p.(=) g.143095863G>A Copied from the Exome Variant Server EPHA1_000146 2/13006 2/8600 0/4406
?/? c.1168G>C r.(?) p.(Val390Leu) g.143095862C>G Copied from the Exome Variant Server EPHA1_000145 1/13006 1/8600 0/4406
?/? c.1181C>T r.(?) p.(Pro394Leu) g.143095849G>A Copied from the Exome Variant Server EPHA1_000144 5/13006 4/8600 1/4406
?/? c.1187C>T r.(?) p.(Ala396Val) g.143095843G>A Copied from the Exome Variant Server EPHA1_000143 2/13006 2/8600 0/4406
?/? c.1189C>T r.(?) p.(Arg397Trp) g.143095841G>A Copied from the Exome Variant Server EPHA1_000142 1/13006 0/8600 1/4406
?/? c.1190G>A r.(?) p.(Arg397Gln) g.143095840C>T Copied from the Exome Variant Server EPHA1_000141 4/13006 4/8600 0/4406
?/? c.1215T>C r.(=) p.(=) g.143095815A>G Copied from the Exome Variant Server EPHA1_000140 1/13006 0/8600 1/4406
?/? c.1298A>G r.(?) p.(His433Arg) g.143095732T>C Copied from the Exome Variant Server EPHA1_000139 1/13006 0/8600 1/4406
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