All transcript variants in gene ATP8B3

Information The variants shown are described using the NM_138813.3 transcript reference sequence.

346 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.-12C>G r.(=) p.(=) g.1811747G>C Copied from the Exome Variant Server ATP8B3_000343 1/12170 0/8258 1/3912
?/? c.53C>T r.(?) p.(Pro18Leu) g.1811683G>A Copied from the Exome Variant Server ATP8B3_000342 1/12306 0/8314 1/3992
?/? c.84G>A r.(=) p.(=) g.1811652C>T Copied from the Exome Variant Server ATP8B3_000341 94/12470 1/8382 93/4088
?/? c.133G>A r.(?) p.(Gly45Arg) g.1811603C>T Copied from the Exome Variant Server ATP8B3_000340 4404/12552 2506/8400 1898/4152
?/? c.149T>A r.(?) p.(Ile50Asn) g.1811587A>T Copied from the Exome Variant Server ATP8B3_000339 3/12544 0/8404 3/4140
?/? c.183G>A r.(=) p.(=) g.1811553C>T Copied from the Exome Variant Server ATP8B3_000338 1/12442 0/8356 1/4086
?/? c.189T>C r.(=) p.(=) g.1811547A>G Copied from the Exome Variant Server ATP8B3_000337 10665/12422 7008/8344 3657/4078
?/? c.218G>A r.(?) p.(Arg73Gln) g.1811518C>T Copied from the Exome Variant Server ATP8B3_000336 1/12280 1/8284 0/3996
?/? c.248+11G>A r.(=) p.(=) g.1811477C>T Copied from the Exome Variant Server ATP8B3_000335 139/12178 123/8256 16/3922
?/? c.248+17C>T r.(=) p.(=) g.1811471G>A Copied from the Exome Variant Server ATP8B3_000334 2/12122 2/8238 0/3884
?/? c.248+23G>A r.(=) p.(=) g.1811465C>T Copied from the Exome Variant Server ATP8B3_000333 4/12068 0/8228 4/3840
?/? c.248+25C>G r.(=) p.(=) g.1811463G>C Copied from the Exome Variant Server ATP8B3_000332 2/12058 2/8226 0/3832
?/? c.248+26G>A r.(=) p.(=) g.1811462C>T Copied from the Exome Variant Server ATP8B3_000331 150/12030 140/8218 10/3812
?/? c.248+36G>C r.(=) p.(=) g.1811452C>G Copied from the Exome Variant Server ATP8B3_000330 6/11996 6/8200 0/3796
?/? c.310+16A>G r.(=) p.(=) g.1810605T>C Copied from the Exome Variant Server ATP8B3_000329 10491/12308 6971/8316 3520/3992
?/? c.311-34C>T r.(=) p.(=) g.1809767G>A Copied from the Exome Variant Server ATP8B3_000328 1/12038 1/8210 0/3828
?/? c.311-8C>T r.(=) p.(=) g.1809741G>A Copied from the Exome Variant Server ATP8B3_000327 102/12192 5/8256 97/3936
?/? c.311-7G>A r.(=) p.(=) g.1809740C>T Copied from the Exome Variant Server ATP8B3_000326 92/12200 89/8258 3/3942
?/? c.351C>T r.(=) p.(=) g.1809693G>A Copied from the Exome Variant Server ATP8B3_000325 1/12274 1/8306 0/3968
?/? c.352G>A r.(?) p.(Gly118Arg) g.1809692C>T Copied from the Exome Variant Server ATP8B3_000324 2/12270 0/8306 2/3964
?/? c.355C>A r.(?) p.(Gln119Lys) g.1809689G>T Copied from the Exome Variant Server ATP8B3_000323 1/12272 1/8308 0/3964
?/? c.402+17G>A r.(=) p.(=) g.1809625C>T Copied from the Exome Variant Server ATP8B3_000322 1/11994 1/8196 0/3798
?/? c.402+18C>T r.(=) p.(=) g.1809624G>A Copied from the Exome Variant Server ATP8B3_000321 10/11994 0/8196 10/3798
?/? c.402+44G>A r.(=) p.(=) g.1809598C>T Copied from the Exome Variant Server ATP8B3_000320 2760/11872 1589/8174 1171/3698
?/? c.403-28G>A r.(=) p.(=) g.1808362C>T Copied from the Exome Variant Server ATP8B3_000319 9/12484 0/8344 9/4140
?/? c.403-7G>A r.(=) p.(=) g.1808341C>T Copied from the Exome Variant Server ATP8B3_000318 3/12686 1/8454 2/4232
?/? c.419C>T r.(?) p.(Thr140Met) g.1808318G>A Copied from the Exome Variant Server ATP8B3_000317 2/12790 2/8516 0/4274
?/? c.441G>A r.(=) p.(=) g.1808296C>T Copied from the Exome Variant Server ATP8B3_000316 2/12846 0/8530 2/4316
?/? c.453G>A r.(=) p.(=) g.1808284C>T Copied from the Exome Variant Server ATP8B3_000315 1/12866 1/8536 0/4330
?/? c.462C>T r.(=) p.(=) g.1808275G>A Copied from the Exome Variant Server ATP8B3_000314 610/12882 568/8542 42/4340
?/? c.475C>T r.(?) p.(Arg159Cys) g.1808262G>A Copied from the Exome Variant Server ATP8B3_000312 1/12894 0/8546 1/4348
?/? c.516+8G>A r.(=) p.(=) g.1808213C>T Copied from the Exome Variant Server ATP8B3_000313 1/12860 0/8526 1/4334
?/? c.517-47C>T r.(=) p.(=) g.1807312G>A Copied from the Exome Variant Server ATP8B3_000311 185/12880 165/8530 20/4350
?/? c.517-6C>T r.(=) p.(=) g.1807271G>A Copied from the Exome Variant Server ATP8B3_000310 1/12960 0/8566 1/4394
?/? c.517-5G>A r.spl? p.? g.1807270C>T Copied from the Exome Variant Server ATP8B3_000309 2/12964 1/8570 1/4394
?/? c.565A>G r.(?) p.(Met189Val) g.1807217T>C Copied from the Exome Variant Server ATP8B3_000308 1/12944 1/8562 0/4382
?/? c.594C>T r.(=) p.(=) g.1807188G>A Copied from the Exome Variant Server ATP8B3_000307 1/12886 0/8530 1/4356
?/? c.609C>T r.(=) p.(=) g.1807173G>A Copied from the Exome Variant Server ATP8B3_000306 1/12808 1/8496 0/4312
?/? c.615+27G>A r.(=) p.(=) g.1807140C>T Copied from the Exome Variant Server ATP8B3_000305 19/12382 0/8338 19/4044
?/? c.615+31G>A r.(=) p.(=) g.1807136C>T Copied from the Exome Variant Server ATP8B3_000304 2020/12344 1288/8318 732/4026
?/? c.615+33G>C r.(=) p.(=) g.1807134C>G Copied from the Exome Variant Server ATP8B3_000303 9/12330 0/8318 9/4012
?/? c.615+38C>T r.(=) p.(=) g.1807129G>A Copied from the Exome Variant Server ATP8B3_000302 1/12286 0/8296 1/3990
?/? c.615+44C>T r.(=) p.(=) g.1807123G>A Copied from the Exome Variant Server ATP8B3_000301 7/12192 0/8266 7/3926
?/? c.616-60G>A r.(=) p.(=) g.1806748C>T Copied from the Exome Variant Server ATP8B3_000300 234/4548 9/3166 225/1382
?/? c.616-8T>C r.(=) p.(=) g.1806696A>G Copied from the Exome Variant Server ATP8B3_000299 4/12214 0/8212 4/4002
?/? c.637G>A r.(?) p.(Ala213Thr) g.1806667C>T Copied from the Exome Variant Server ATP8B3_000298 422/12356 373/8284 49/4072
?/? c.645C>A r.(?) p.(Asn215Lys) g.1806659G>T Copied from the Exome Variant Server ATP8B3_000297 1/12348 0/8286 1/4062
?/? c.677+30C>T r.(=) p.(=) g.1806597G>A Copied from the Exome Variant Server ATP8B3_000296 30/11918 0/8056 30/3862
?/? c.677+60T>C r.(=) p.(=) g.1806567A>G Copied from the Exome Variant Server ATP8B3_000295 26/4566 0/3182 26/1384
?/? c.678-16C>T r.(=) p.(=) g.1806184G>A Copied from the Exome Variant Server ATP8B3_000294 4/12278 4/8276 0/4002
?/? c.678-6C>T r.(=) p.(=) g.1806174G>A Copied from the Exome Variant Server ATP8B3_000293 1/12306 0/8298 1/4008
?/? c.678-5C>T r.spl? p.? g.1806173G>A Copied from the Exome Variant Server ATP8B3_000292 1/12306 1/8294 0/4012
?/? c.678-4G>A r.spl? p.? g.1806172C>T Copied from the Exome Variant Server ATP8B3_000291 12/12324 0/8304 12/4020
?/? c.693del r.(?) p.(Lys231Asnfs*48) g.1806153del Copied from the Exome Variant Server ATP8B3_000290 2/11824 2/7946 0/3878
?/? c.744C>T r.(=) p.(=) g.1806102G>A Copied from the Exome Variant Server ATP8B3_000289 4/12374 4/8318 0/4056
?/? c.745G>A r.(?) p.(Val249Ile) g.1806101C>T Copied from the Exome Variant Server ATP8B3_000288 1/12346 0/8306 1/4040
?/? c.750+7_750+8insT r.(=) p.(=) g.1806088_1806089insA Copied from the Exome Variant Server ATP8B3_000287 1/11796 0/7930 1/3866
?/? c.750+13T>G r.(=) p.(=) g.1806083A>C Copied from the Exome Variant Server ATP8B3_000286 2359/12292 1608/8286 751/4006
?/? c.750+19C>T r.(=) p.(=) g.1806077G>A Copied from the Exome Variant Server ATP8B3_000285 3/12242 0/8272 3/3970
?/? c.750+20G>A r.(=) p.(=) g.1806076C>T Copied from the Exome Variant Server ATP8B3_000284 2/12230 2/8274 0/3956
?/? c.750+34A>G r.(=) p.(=) g.1806062T>C Copied from the Exome Variant Server ATP8B3_000283 1/12218 1/8260 0/3958
?/? c.750+36G>A r.(=) p.(=) g.1806060C>T Copied from the Exome Variant Server ATP8B3_000282 1/12206 1/8252 0/3954
?/? c.750+37C>T r.(=) p.(=) g.1806059G>A Copied from the Exome Variant Server ATP8B3_000281 1/12202 0/8254 1/3948
?/? c.750+40C>T r.(=) p.(=) g.1806056G>A Copied from the Exome Variant Server ATP8B3_000280 31/12204 0/8252 31/3952
?/? c.750+48C>T r.(=) p.(=) g.1806048G>A Copied from the Exome Variant Server ATP8B3_000279 53/12164 1/8236 52/3928
?/? c.751-39G>C r.(=) p.(=) g.1805996C>G Copied from the Exome Variant Server ATP8B3_000278 144/12364 0/8292 144/4072
?/? c.751-23C>T r.(=) p.(=) g.1805980G>A Copied from the Exome Variant Server ATP8B3_000277 2/12424 2/8328 0/4096
?/? c.751-13C>G r.(=) p.(=) g.1805970G>C Copied from the Exome Variant Server ATP8B3_000276 1/12474 1/8350 0/4124
?/? c.751-6C>T r.(=) p.(=) g.1805963G>A Copied from the Exome Variant Server ATP8B3_000274 1/12486 1/8364 0/4122
?/? c.811G>A r.(?) p.(Asp271Asn) g.1805897C>T Copied from the Exome Variant Server ATP8B3_000272 1/12656 1/8438 0/4218
?/? c.820G>A r.(?) p.(Gly274Arg) g.1805888C>T Copied from the Exome Variant Server ATP8B3_000270 1/12640 0/8430 1/4210
?/? c.821G>T r.(?) p.(Gly274Val) g.1805887C>A Copied from the Exome Variant Server ATP8B3_000344 1/12636 1/8430 0/4206
?/? c.821+32G>A r.(=) p.(=) g.1805855C>T Copied from the Exome Variant Server ATP8B3_000345 8/12458 8/8366 0/4092
?/? c.821+49C>T r.(=) p.(=) g.1805838G>A Copied from the Exome Variant Server ATP8B3_000265 6/12446 0/8362 6/4084
?/? c.822-9C>T r.(=) p.(=) g.1805464G>A Copied from the Exome Variant Server ATP8B3_000264 1/12214 0/8268 1/3946
?/? c.834G>A r.(=) p.(=) g.1805443C>T Copied from the Exome Variant Server ATP8B3_000262 4/12242 0/8286 4/3956
?/? c.855G>A r.(?) p.(Met285Ile) g.1805422C>T Copied from the Exome Variant Server ATP8B3_000260 2/12210 1/8276 1/3934
?/? c.875C>T r.(?) p.(Ala292Val) g.1805402G>A Copied from the Exome Variant Server ATP8B3_000258 1/12210 1/8288 0/3922
?/? c.893C>A r.(?) p.(Ala298Glu) g.1805384G>T Copied from the Exome Variant Server ATP8B3_000256 1/12194 0/8276 1/3918
?/? c.904+56A>G r.(=) p.(=) g.1805317T>C Copied from the Exome Variant Server ATP8B3_000254 33/4566 0/3182 33/1384
?/? c.905-17C>A r.(=) p.(=) g.1802661G>T Copied from the Exome Variant Server ATP8B3_000252 3/12610 0/8426 3/4184
?/? c.915G>A r.(=) p.(=) g.1802634C>T Copied from the Exome Variant Server ATP8B3_000275 1/12648 1/8438 0/4210
?/? c.924G>A r.(=) p.(=) g.1802625C>T Copied from the Exome Variant Server ATP8B3_000273 11/12666 11/8450 0/4216
?/? c.958C>G r.(?) p.(Leu320Val) g.1802591G>C Copied from the Exome Variant Server ATP8B3_000271 5/12660 0/8436 5/4224
?/? c.1013G>A r.(?) p.(Gly338Asp) g.1802536C>T Copied from the Exome Variant Server ATP8B3_000269 1/12716 1/8474 0/4242
?/? c.1037C>A r.(?) p.(Thr346Asn) g.1802512G>T Copied from the Exome Variant Server ATP8B3_000268 1/12658 1/8442 0/4216
?/? c.1063+4C>T r.spl? p.? g.1802482G>A Copied from the Exome Variant Server ATP8B3_000267 1499/12542 841/8410 658/4132
?/? c.1063+39G>A r.(=) p.(=) g.1802447C>T Copied from the Exome Variant Server ATP8B3_000266 1/12234 0/8302 1/3932
?/? c.1063+48G>A r.(=) p.(=) g.1802438C>T Copied from the Exome Variant Server ATP8B3_000263 1/12194 1/8290 0/3904
?/? c.1064-51_1064-50insG r.(=) p.(=) g.1802093_1802094insC Copied from the Exome Variant Server ATP8B3_000261 78/4230 58/2852 20/1378
?/? c.1064-50_1064-48del r.(=) p.(=) g.1802091_1802093del Copied from the Exome Variant Server ATP8B3_000259 90/4916 61/3346 29/1570
?/? c.1064-49_1064-48insT r.(=) p.(=) g.1802091_1802092insA Copied from the Exome Variant Server ATP8B3_000257 94/5024 59/3420 35/1604
?/? c.1064-26_1064-23del r.(=) p.(=) g.1802066_1802069del Copied from the Exome Variant Server ATP8B3_000255 79/9676 60/6740 19/2936
?/? c.1064-1G>A r.spl? p.? g.1802044C>T Copied from the Exome Variant Server ATP8B3_000253 5/12050 0/8210 5/3840
?/? c.1118A>G r.(?) p.(Lys373Arg) g.1801989T>C Copied from the Exome Variant Server ATP8B3_000251 1/12404 1/8336 0/4068
?/? c.1145T>C r.(?) p.(Val382Ala) g.1801962A>G Copied from the Exome Variant Server ATP8B3_000250 4/12440 4/8348 0/4092
?/? c.1152+1G>C r.spl? p.? g.1801954C>G Copied from the Exome Variant Server ATP8B3_000249 1/12470 0/8358 1/4112
?/? c.1152+8G>A r.(=) p.(=) g.1801947C>T Copied from the Exome Variant Server ATP8B3_000248 1/12462 0/8358 1/4104
?/? c.1153-36G>A r.(=) p.(=) g.1800484C>T Copied from the Exome Variant Server ATP8B3_000247 1/12238 0/8298 1/3940
?/? c.1153-14C>T r.(=) p.(=) g.1800462G>A Copied from the Exome Variant Server ATP8B3_000246 3/12412 3/8362 0/4050
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