All transcript variants in gene ERCC6

Information The variants shown are described using the NM_000124.2 transcript reference sequence.

351 entries on 4 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.-14-17A>C r.(=) p.(=) g.50741041T>G Copied from the Exome Variant Server ERCC6_000347 1/13006 1/8600 0/4406
?/? c.-11G>C r.(=) p.(=) g.50741021C>G Copied from the Exome Variant Server ERCC6_000346 6/13006 0/8600 6/4406
?/? c.114T>G r.(?) p.(Asp38Glu) g.50740897A>C Copied from the Exome Variant Server ERCC6_000345 1/13006 1/8600 0/4406
?/? c.135C>G r.(=) p.(=) g.50740876G>C Copied from the Exome Variant Server ERCC6_000344 8162/13006 6380/8600 1782/4406
?/? c.147T>C r.(=) p.(=) g.50740864A>G Copied from the Exome Variant Server ERCC6_000343 1/13006 0/8600 1/4406
?/? c.150G>A r.(=) p.(=) g.50740861C>T Copied from the Exome Variant Server ERCC6_000342 14/13006 13/8600 1/4406
?/? c.156C>T r.(=) p.(=) g.50740855G>A Copied from the Exome Variant Server ERCC6_000341 3/13006 0/8600 3/4406
?/? c.201G>A r.(=) p.(=) g.50740810C>T Copied from the Exome Variant Server ERCC6_000340 1/13006 1/8600 0/4406
?/? c.206G>A r.(?) p.(Gly69Glu) g.50740805C>T Copied from the Exome Variant Server ERCC6_000339 1/13006 1/8600 0/4406
?/? c.246A>G r.(=) p.(=) g.50740765T>C Copied from the Exome Variant Server ERCC6_000338 6/13006 0/8600 6/4406
?/? c.295G>A r.(?) p.(Val99Ile) g.50740716C>T Copied from the Exome Variant Server ERCC6_000337 2/13006 1/8600 1/4406
?/? c.310G>T r.(?) p.(Val104Leu) g.50740701C>A Copied from the Exome Variant Server ERCC6_000336 1/13006 0/8600 1/4406
?/? c.344A>G r.(?) p.(Asn115Ser) g.50740667T>C Copied from the Exome Variant Server ERCC6_000335 3/13006 0/8600 3/4406
?/? c.352C>T r.(?) p.(His118Tyr) g.50740659G>A Copied from the Exome Variant Server ERCC6_000334 1/13006 1/8600 0/4406
?/? c.364C>A r.(?) p.(Arg122Ser) g.50740647G>T Copied from the Exome Variant Server ERCC6_000333 1/13006 1/8600 0/4406
?/? c.378C>T r.(=) p.(=) g.50740633G>A Copied from the Exome Variant Server ERCC6_000332 1/13006 0/8600 1/4406
?/? c.384C>T r.(=) p.(=) g.50740627G>A Copied from the Exome Variant Server ERCC6_000331 3/13006 0/8600 3/4406
?/? c.385G>A r.(?) p.(Val129Met) g.50740626C>T Copied from the Exome Variant Server ERCC6_000330 2/13006 2/8600 0/4406
?/? c.400C>T r.(?) p.(Arg134Trp) g.50740611G>A Copied from the Exome Variant Server ERCC6_000329 12/13006 11/8600 1/4406
?/? c.411G>A r.(=) p.(=) g.50740600C>T Copied from the Exome Variant Server ERCC6_000328 1025/13006 552/8600 473/4406
?/? c.422+39A>G r.(=) p.(=) g.50740550T>C Copied from the Exome Variant Server ERCC6_000327 6/13006 0/8600 6/4406
?/? c.422+48C>A r.(=) p.(=) g.50740541G>T Copied from the Exome Variant Server ERCC6_000326 1/13006 1/8600 0/4406
?/? c.423-39del r.(=) p.(=) g.50738925del Copied from the Exome Variant Server ERCC6_000325 23/12512 0/8252 23/4260
?/? c.431C>T r.(?) p.(Thr144Met) g.50738878G>A Copied from the Exome Variant Server ERCC6_000324 1/13002 1/8598 0/4404
?/? c.438C>T r.(=) p.(=) g.50738871G>A Copied from the Exome Variant Server ERCC6_000323 6/13002 0/8598 6/4404
?/? c.507G>A r.(=) p.(=) g.50738802C>T Copied from the Exome Variant Server ERCC6_000322 2/13006 2/8600 0/4406
?/? c.528A>G r.(=) p.(=) g.50738781T>C Copied from the Exome Variant Server ERCC6_000348 88/13006 80/8600 8/4406
?/? c.530A>G r.(?) p.(Gln177Arg) g.50738779T>C Copied from the Exome Variant Server ERCC6_000349 1/13006 1/8600 0/4406
?/? c.565A>G r.(?) p.(Thr189Ala) g.50736550T>C Copied from the Exome Variant Server ERCC6_000318 2/13006 2/8600 0/4406
?/? c.590C>T r.(?) p.(Ala197Val) g.50736525G>A Copied from the Exome Variant Server ERCC6_000316 1/13006 0/8600 1/4406
?/? c.630C>T r.(=) p.(=) g.50736485G>A Copied from the Exome Variant Server ERCC6_000321 1/13006 0/8600 1/4406
?/? c.631G>A r.(?) p.(Ala211Thr) g.50736484C>T Copied from the Exome Variant Server ERCC6_000320 1/13006 1/8600 0/4406
?/? c.652+9G>T r.(=) p.(=) g.50736454C>A Copied from the Exome Variant Server ERCC6_000319 3/13006 0/8600 3/4406
?/? c.652+36A>G r.(=) p.(=) g.50736427T>C Copied from the Exome Variant Server ERCC6_000317 1/13006 0/8600 1/4406
?/? c.652+42T>G r.(=) p.(=) g.50736421A>C Copied from the Exome Variant Server ERCC6_000315 1/13006 1/8600 0/4406
?/? c.652+43G>A r.(=) p.(=) g.50736420C>T Copied from the Exome Variant Server ERCC6_000314 63/13006 57/8600 6/4406
?/? c.653-27C>T r.(=) p.(=) g.50732850G>A Copied from the Exome Variant Server ERCC6_000313 10/12618 0/8316 10/4302
?/? c.656C>T r.(?) p.(Pro219Leu) g.50732820G>A Copied from the Exome Variant Server ERCC6_000312 1/12866 0/8496 1/4370
?/? c.670C>T r.(?) p.(Leu224Phe) g.50732806G>A Copied from the Exome Variant Server ERCC6_000311 2/12958 2/8568 0/4390
?/? c.721C>T r.(?) p.(Arg241Cys) g.50732755G>A Copied from the Exome Variant Server ERCC6_000310 3/13004 0/8598 3/4406
?/? c.723C>T r.(=) p.(=) g.50732753G>A Copied from the Exome Variant Server ERCC6_000309 1/13006 1/8600 0/4406
?/? c.752A>G r.(?) p.(Gln251Arg) g.50732724T>C Copied from the Exome Variant Server ERCC6_000308 2/13006 2/8600 0/4406
?/? c.795T>C r.(=) p.(=) g.50732681A>G Copied from the Exome Variant Server ERCC6_000307 9/13006 0/8600 9/4406
?/? c.845C>A r.(?) p.(Ser282Tyr) g.50732631G>T Copied from the Exome Variant Server ERCC6_000306 1/13006 1/8600 0/4406
?/? c.858G>C r.(?) p.(Lys286Asn) g.50732618C>G Copied from the Exome Variant Server ERCC6_000305 2/13006 2/8600 0/4406
?/? c.885T>C r.(=) p.(=) g.50732591A>G Copied from the Exome Variant Server ERCC6_000304 4/13006 0/8600 4/4406
?/? c.886A>G r.(?) p.(Arg296Gly) g.50732590T>C Copied from the Exome Variant Server ERCC6_000303 5/13006 0/8600 5/4406
?/? c.909G>T r.(=) p.(=) g.50732567C>A Copied from the Exome Variant Server ERCC6_000302 1/13006 0/8600 1/4406
?/? c.980G>A r.(?) p.(Arg327His) g.50732496C>T Copied from the Exome Variant Server ERCC6_000301 1/13006 1/8600 0/4406
?/? c.1022A>G r.(?) p.(Gln341Arg) g.50732454T>C Copied from the Exome Variant Server ERCC6_000300 2/13006 0/8600 2/4406
?/? c.1145A>G r.(?) p.(Glu382Gly) g.50732331T>C Copied from the Exome Variant Server ERCC6_000299 10/13006 0/8600 10/4406
?/? c.1146G>A r.(=) p.(=) g.50732330C>T Copied from the Exome Variant Server ERCC6_000298 95/13006 5/8600 90/4406
?/? c.1158C>G r.(?) p.(Asp386Glu) g.50732318G>C Copied from the Exome Variant Server ERCC6_000297 26/13006 24/8600 2/4406
?/? c.1159G>A r.(?) p.(Glu387Lys) g.50732317C>T Copied from the Exome Variant Server ERCC6_000296 9/13006 0/8600 9/4406
?/? c.1170G>A r.(=) p.(=) g.50732306C>T Copied from the Exome Variant Server ERCC6_000295 2/13006 0/8600 2/4406
?/? c.1178C>T r.(?) p.(Ala393Val) g.50732298G>A Copied from the Exome Variant Server ERCC6_000294 1/13006 0/8600 1/4406
?/? c.1191A>T r.(=) p.(=) g.50732285T>A Copied from the Exome Variant Server ERCC6_000293 3/13006 2/8600 1/4406
?/? c.1193A>G r.(?) p.(Asp398Gly) g.50732283T>C Copied from the Exome Variant Server ERCC6_000292 1/13006 0/8600 1/4406
?/? c.1196G>A r.(?) p.(Gly399Asp) g.50732280C>T Copied from the Exome Variant Server ERCC6_000291 2111/13006 1382/8600 729/4406
?/? c.1229G>A r.(?) p.(Gly410Asp) g.50732247C>T Copied from the Exome Variant Server ERCC6_000290 5/13006 5/8600 0/4406
?/? c.1230C>T r.(=) p.(=) g.50732246G>A Copied from the Exome Variant Server ERCC6_000289 2/13006 0/8600 2/4406
?/? c.1237C>T r.(?) p.(Arg413Trp) g.50732239G>A Copied from the Exome Variant Server ERCC6_000288 3/13006 1/8600 2/4406
?/? c.1238G>T r.(?) p.(Arg413Leu) g.50732238C>A Copied from the Exome Variant Server ERCC6_000287 1/13006 1/8600 0/4406
?/? c.1274A>C r.(?) p.(Asp425Ala) g.50732202T>G Copied from the Exome Variant Server ERCC6_000286 27/13006 24/8600 3/4406
?/? c.1273_1275del r.(?) p.(Asp425del) g.50732201_50732203del Copied from the Exome Variant Server ERCC6_000285 1/12518 0/8254 1/4264
?/? c.1290T>C r.(=) p.(=) g.50732186A>G Copied from the Exome Variant Server ERCC6_000284 1/13006 1/8600 0/4406
?/? c.1292G>T r.(?) p.(Gly431Val) g.50732184C>A Copied from the Exome Variant Server ERCC6_000283 1/13006 1/8600 0/4406
?/? c.1319_1321del r.(?) p.(Gly440del) g.50732155_50732157del Copied from the Exome Variant Server ERCC6_000282 5/12518 4/8254 1/4264
?/? c.1322A>G r.(?) p.(Glu441Gly) g.50732154T>C Copied from the Exome Variant Server ERCC6_000281 2/13006 1/8600 1/4406
?/? c.1337G>A r.(?) p.(Gly446Asp) g.50732139C>T Copied from the Exome Variant Server ERCC6_000280 137/13006 121/8600 16/4406
?/? c.1379A>C r.(?) p.(Tyr460Ser) g.50732097T>G Copied from the Exome Variant Server ERCC6_000279 1/13006 1/8600 0/4406
?/? c.1390C>T r.(?) p.(Arg464Trp) g.50732086G>A Copied from the Exome Variant Server ERCC6_000278 1/13006 1/8600 0/4406
?/? c.1391G>T r.(?) p.(Arg464Leu) g.50732085C>A Copied from the Exome Variant Server ERCC6_000276 1/13006 1/8600 0/4406
?/? c.1397+24A>T r.(=) p.(=) g.50732055T>A Copied from the Exome Variant Server ERCC6_000274 2/13006 1/8600 1/4406
?/? c.1397+6913C>G r.(=) p.(=) g.50725166G>C Copied from the Exome Variant Server ERCC6_000272 1/12964 0/8584 1/4380
?/? c.1397+6939A>G r.(=) p.(=) g.50725140T>C Copied from the Exome Variant Server ERCC6_000270 5/13004 0/8600 5/4404
?/? c.1397+6941A>G r.(?) p.(His8Arg) g.50725138T>C Copied from the Exome Variant Server ERCC6_000268 4/13002 2/8600 2/4402
?/? c.1397+7001A>G r.(?) p.(Gln28Arg) g.50725078T>C Copied from the Exome Variant Server ERCC6_000266 1/13006 1/8600 0/4406
?/? c.1397+7017T>A r.(=) p.(=) g.50725062A>T Copied from the Exome Variant Server ERCC6_000350 2/13006 1/8600 1/4406
?/? c.1397+7051G>C r.(?) p.(Glu45Gln) g.50725028C>G Copied from the Exome Variant Server ERCC6_000263 2/13006 2/8600 0/4406
?/? c.1397+7055_1397+7057del r.(?) p.(Glu46del) g.50725022_50725024del Copied from the Exome Variant Server ERCC6_000277 41/12518 26/8254 15/4264
?/? c.1397+7063A>T r.(?) p.(Thr49Ser) g.50725016T>A Copied from the Exome Variant Server ERCC6_000275 1/13006 1/8600 0/4406
?/? c.1397+7144_1397+7145del r.(?) p.(Asp76*) g.50724934_50724935del Copied from the Exome Variant Server ERCC6_000273 1/12518 0/8254 1/4264
?/? c.1397+7158C>T r.(=) p.(=) g.50724921G>A Copied from the Exome Variant Server ERCC6_000271 1/13006 1/8600 0/4406
?/? c.1397+7159G>A r.(?) p.(Ala81Thr) g.50724920C>T Copied from the Exome Variant Server ERCC6_000269 1/13006 1/8600 0/4406
?/? c.1397+7186G>C r.(?) p.(Val90Leu) g.50724893C>G Copied from the Exome Variant Server ERCC6_000267 1/13006 1/8600 0/4406
?/? c.1397+7197G>A r.(=) p.(=) g.50724882C>T Copied from the Exome Variant Server ERCC6_000265 3/13006 0/8600 3/4406
?/? c.1397+7210C>T r.(?) p.(Gln98*) g.50724869G>A Copied from the Exome Variant Server ERCC6_000264 1/13006 1/8600 0/4406
?/? c.1397+7266A>G r.(=) p.(=) g.50724813T>C Copied from the Exome Variant Server ERCC6_000262 7/13006 7/8600 0/4406
?/? c.1397+7269C>T r.(=) p.(=) g.50724810G>A Copied from the Exome Variant Server ERCC6_000261 1/13006 0/8600 1/4406
?/? c.1397+7293A>C r.(=) p.(=) g.50724786T>G Copied from the Exome Variant Server ERCC6_000260 1/13006 1/8600 0/4406
?/? c.1397+7304C>T r.(?) p.(Thr129Ile) g.50724775G>A Copied from the Exome Variant Server ERCC6_000259 6/13006 6/8600 0/4406
?/? c.1397+7305A>G r.(=) p.(=) g.50724774T>C Copied from the Exome Variant Server ERCC6_000258 1/13006 1/8600 0/4406
?/? c.1397+7330G>A r.(?) p.(Val138Ile) g.50724749C>T Copied from the Exome Variant Server ERCC6_000257 1/13006 0/8600 1/4406
?/? c.1397+7356T>C r.(=) p.(=) g.50724723A>G Copied from the Exome Variant Server ERCC6_000256 1/13006 0/8600 1/4406
?/? c.1397+7361T>A r.(?) p.(Leu148His) g.50724718A>T Copied from the Exome Variant Server ERCC6_000255 1/13006 1/8600 0/4406
?/? c.1397+7368del r.(?) p.(Asp151Metfs*25) g.50724711del Copied from the Exome Variant Server ERCC6_000254 2/12518 2/8254 0/4264
?/? c.1397+7387C>T r.(?) p.(Leu157Phe) g.50724692G>A Copied from the Exome Variant Server ERCC6_000253 1/13006 0/8600 1/4406
?/? c.1397+7388T>G r.(?) p.(Leu157Arg) g.50724691A>C Copied from the Exome Variant Server ERCC6_000252 1/13006 0/8600 1/4406
?/? c.1397+7401C>G r.(?) p.(Tyr161*) g.50724678G>C Copied from the Exome Variant Server ERCC6_000251 1/13006 1/8600 0/4406
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