Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.54293146_54293167del | CA2575178101 | NFE2 | c.335_356del (p.Leu112ArgfsTer6) c.302_323del (p.Leu101ArgfsTer6) c.32_53del (p.Leu11ArgfsTer6) | |
12 | g.54293141G>A | CA385109360 | NFE2 | c.355C>T (p.Pro119Ser) c.322C>T (p.Pro108Ser) c.52C>T (p.Pro18Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293141G>C | CA385109361 | NFE2 | c.355C>G (p.Pro119Ala) c.322C>G (p.Pro108Ala) c.52C>G (p.Pro18Ala) | |
12 | g.54293141G>T | CA385109362 | NFE2 | c.355C>A (p.Pro119Thr) c.322C>A (p.Pro108Thr) c.52C>A (p.Pro18Thr) | |
12 | g.54293142C>A | CA385109363 | NFE2 | c.354G>T (p.Glu118Asp) c.321G>T (p.Glu107Asp) c.51G>T (p.Glu17Asp) | gnomAD v4 |
12 | g.54293142C>G | CA385109364 | NFE2 | c.354G>C (p.Glu118Asp) c.321G>C (p.Glu107Asp) c.51G>C (p.Glu17Asp) | |
12 | g.54293142C>T | CA480094809 | NFE2 | c.354G>A (p.Glu118=) c.321G>A (p.Glu107=) c.51G>A (p.Glu17=) | |
12 | g.54293143T>A | CA385109365 | NFE2 | c.353A>T (p.Glu118Val) c.320A>T (p.Glu107Val) c.50A>T (p.Glu17Val) | |
12 | g.54293143T>C | CA385109367 | NFE2 | c.353A>G (p.Glu118Gly) c.320A>G (p.Glu107Gly) c.50A>G (p.Glu17Gly) | |
12 | g.54293143T>G | CA385109366 | NFE2 | c.353A>C (p.Glu118Ala) c.320A>C (p.Glu107Ala) c.50A>C (p.Glu17Ala) | |
12 | g.54293144C>A | CA385109368 | NFE2 | c.352G>T (p.Glu118Ter) c.319G>T (p.Glu107Ter) c.49G>T (p.Glu17Ter) | gnomAD v4 |
12 | g.54293144C>G | CA385109369 | NFE2 | c.352G>C (p.Glu118Gln) c.319G>C (p.Glu107Gln) c.49G>C (p.Glu17Gln) | |
12 | g.54293144C>T | CA385109370 | NFE2 | c.352G>A (p.Glu118Lys) c.319G>A (p.Glu107Lys) c.49G>A (p.Glu17Lys) | gnomAD v4 |
12 | g.54293145A>C | CA385109371 | NFE2 | c.351T>G (p.Ser117Arg) c.318T>G (p.Ser106Arg) c.48T>G (p.Ser16Arg) | |
12 | g.54293145A>G | CA480094823 | NFE2 | c.351T>C (p.Ser117=) c.318T>C (p.Ser106=) c.48T>C (p.Ser16=) | gnomAD v4 COSMIC |
12 | g.54293145A>T | CA385109372 | NFE2 | c.351T>A (p.Ser117Arg) c.318T>A (p.Ser106Arg) c.48T>A (p.Ser16Arg) | |
12 | g.54293146C>A | CA385109373 | NFE2 | c.350G>T (p.Ser117Ile) c.317G>T (p.Ser106Ile) c.47G>T (p.Ser16Ile) | gnomAD v4 |
12 | g.54293146C= | CA2037367905 | NFE2 | c.350G= (p.Ser117=) c.317G= (p.Ser106=) c.47G= (p.Ser16=) | |
12 | g.54293146C>G | CA385109374 | NFE2 | c.350G>C (p.Ser117Thr) c.317G>C (p.Ser106Thr) c.47G>C (p.Ser16Thr) | |
12 | g.54293146C>T | CA6606595 | NFE2 | c.350G>A (p.Ser117Asn) c.317G>A (p.Ser106Asn) c.47G>A (p.Ser16Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293147T>A | CA385109375 | NFE2 | c.349A>T (p.Ser117Cys) c.316A>T (p.Ser106Cys) c.46A>T (p.Ser16Cys) | |
12 | g.54293147T>C | CA385109376 | NFE2 | c.349A>G (p.Ser117Gly) c.316A>G (p.Ser106Gly) c.46A>G (p.Ser16Gly) | |
12 | g.54293147T>G | CA385109377 | NFE2 | c.349A>C (p.Ser117Arg) c.316A>C (p.Ser106Arg) c.46A>C (p.Ser16Arg) | |
12 | g.54293148G>A | CA480094836 | NFE2 | c.348C>T (p.Leu116=) c.315C>T (p.Leu105=) c.45C>T (p.Leu15=) | gnomAD v4 COSMIC |
12 | g.54293148G>C | CA480094837 | NFE2 | c.348C>G (p.Leu116=) c.315C>G (p.Leu105=) c.45C>G (p.Leu15=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293148G= | CA2037367906 | NFE2 | c.348C= (p.Leu116=) c.315C= (p.Leu105=) c.45C= (p.Leu15=) | |
12 | g.54293148G>T | CA480094838 | NFE2 | c.348C>A (p.Leu116=) c.315C>A (p.Leu105=) c.45C>A (p.Leu15=) | gnomAD v4 |
12 | g.54293149A>C | CA385109378 | NFE2 | c.347T>G (p.Leu116Arg) c.314T>G (p.Leu105Arg) c.44T>G (p.Leu15Arg) | |
12 | g.54293149A>G | CA385109380 | NFE2 | c.347T>C (p.Leu116Pro) c.314T>C (p.Leu105Pro) c.44T>C (p.Leu15Pro) | gnomAD v4 |
12 | g.54293149A>T | CA385109379 | NFE2 | c.347T>A (p.Leu116His) c.314T>A (p.Leu105His) c.44T>A (p.Leu15His) | |
12 | g.54293149_54293153delinsAGCAG | CA2037367907 | NFE2 | c.343_347delinsCTGCT (p.Leu115=) c.310_314delinsCTGCT (p.Leu104=) c.40_44delinsCTGCT (p.Leu14=) | |
12 | g.54293150G>A | CA385109381 | NFE2 | c.346C>T (p.Leu116Phe) c.313C>T (p.Leu105Phe) c.43C>T (p.Leu15Phe) | |
12 | g.54293150G>C | CA385109382 | NFE2 | c.346C>G (p.Leu116Val) c.313C>G (p.Leu105Val) c.43C>G (p.Leu15Val) | |
12 | g.54293150G>T | CA385109383 | NFE2 | c.346C>A (p.Leu116Ile) c.313C>A (p.Leu105Ile) c.43C>A (p.Leu15Ile) | |
12 | g.54293152_54293155del | CA605245644 | NFE2 | c.343_346del (p.Leu115SerfsTer9) c.310_313del (p.Leu104SerfsTer9) c.40_43del (p.Leu14SerfsTer9) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293151C>A | CA480094850 | NFE2 | c.345G>T (p.Leu115=) c.312G>T (p.Leu104=) c.42G>T (p.Leu14=) | gnomAD v4 |
12 | g.54293151C= | CA2037367908 | NFE2 | c.345G= (p.Leu115=) c.312G= (p.Leu104=) c.42G= (p.Leu14=) | |
12 | g.54293151C>G | CA6606596 | NFE2 | c.345G>C (p.Leu115=) c.312G>C (p.Leu104=) c.42G>C (p.Leu14=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.54293151C>T | CA480094855 | NFE2 | c.345G>A (p.Leu115=) c.312G>A (p.Leu104=) c.42G>A (p.Leu14=) | gnomAD v4 |
12 | g.54293152A= | CA2037367909 | NFE2 | c.344T= (p.Leu115=) c.311T= (p.Leu104=) c.41T= (p.Leu14=) | |
12 | g.54293152A>C | CA385109384 | NFE2 | c.344T>G (p.Leu115Arg) c.311T>G (p.Leu104Arg) c.41T>G (p.Leu14Arg) | |
12 | g.54293152A>G | CA385109385 | NFE2 | c.344T>C (p.Leu115Pro) c.311T>C (p.Leu104Pro) c.41T>C (p.Leu14Pro) | |
12 | g.54293152A>T | CA385109386 | NFE2 | c.344T>A (p.Leu115Gln) c.311T>A (p.Leu104Gln) c.41T>A (p.Leu14Gln) | dbSNP gnomAD v4 |
12 | g.54293153G>A | CA480094864 | NFE2 | c.343C>T (p.Leu115=) c.310C>T (p.Leu104=) c.40C>T (p.Leu14=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293153G>C | CA6606597 | NFE2 | c.343C>G (p.Leu115Val) c.310C>G (p.Leu104Val) c.40C>G (p.Leu14Val) | dbSNP ExAC gnomAD v2 |
12 | g.54293153G= | CA2037367910 | NFE2 | c.343C= (p.Leu115=) c.310C= (p.Leu104=) c.40C= (p.Leu14=) | |
12 | g.54293153G>T | CA385109387 | NFE2 | c.343C>A (p.Leu115Met) c.310C>A (p.Leu104Met) c.40C>A (p.Leu14Met) | |
12 | g.54293154G>A | CA6606598 | NFE2 | c.342C>T (p.Gly114=) c.309C>T (p.Gly103=) c.39C>T (p.Gly13=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.54293154G>C | CA6606599 | NFE2 | c.342C>G (p.Gly114=) c.309C>G (p.Gly103=) c.39C>G (p.Gly13=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293154G= | CA2037367911 | NFE2 | c.342C= (p.Gly114=) c.309C= (p.Gly103=) c.39C= (p.Gly13=) | |
12 | g.54293154G>T | CA480094876 | NFE2 | c.342C>A (p.Gly114=) c.309C>A (p.Gly103=) c.39C>A (p.Gly13=) | |
12 | g.54293155C>A | CA385109390 | NFE2 | c.341G>T (p.Gly114Val) c.308G>T (p.Gly103Val) c.38G>T (p.Gly13Val) | gnomAD v4 |
12 | g.54293155C>G | CA385109389 | NFE2 | c.341G>C (p.Gly114Ala) c.308G>C (p.Gly103Ala) c.38G>C (p.Gly13Ala) | |
12 | g.54293155C>T | CA385109388 | NFE2 | c.341G>A (p.Gly114Asp) c.308G>A (p.Gly103Asp) c.38G>A (p.Gly13Asp) | |
12 | g.54293156C>A | CA385109391 | NFE2 | c.340G>T (p.Gly114Cys) c.307G>T (p.Gly103Cys) c.37G>T (p.Gly13Cys) | |
12 | g.54293156C>G | CA385109392 | NFE2 | c.340G>C (p.Gly114Arg) c.307G>C (p.Gly103Arg) c.37G>C (p.Gly13Arg) | |
12 | g.54293156C>T | CA385109393 | NFE2 | c.340G>A (p.Gly114Ser) c.307G>A (p.Gly103Ser) c.37G>A (p.Gly13Ser) | |
12 | g.54293157T>A | CA480094885 | NFE2 | c.339A>T (p.Ser113=) c.306A>T (p.Ser102=) c.36A>T (p.Ser12=) | |
12 | g.54293157T>C | CA480094886 | NFE2 | c.339A>G (p.Ser113=) c.306A>G (p.Ser102=) c.36A>G (p.Ser12=) | gnomAD v4 |
12 | g.54293157T>G | CA480094887 | NFE2 | c.339A>C (p.Ser113=) c.306A>C (p.Ser102=) c.36A>C (p.Ser12=) | |
12 | g.54293158G>A | CA385109394 | NFE2 | c.338C>T (p.Ser113Leu) c.305C>T (p.Ser102Leu) c.35C>T (p.Ser12Leu) | gnomAD v4 COSMIC |
12 | g.54293158G>C | CA385109395 | NFE2 | c.338C>G (p.Ser113Ter) c.305C>G (p.Ser102Ter) c.35C>G (p.Ser12Ter) | COSMIC |
12 | g.54293158G>T | CA385109396 | NFE2 | c.338C>A (p.Ser113Ter) c.305C>A (p.Ser102Ter) c.35C>A (p.Ser12Ter) | |
12 | g.54293159A>C | CA385109397 | NFE2 | c.337T>G (p.Ser113Ala) c.304T>G (p.Ser102Ala) c.34T>G (p.Ser12Ala) | |
12 | g.54293159A>G | CA385109398 | NFE2 | c.337T>C (p.Ser113Pro) c.304T>C (p.Ser102Pro) c.34T>C (p.Ser12Pro) | |
12 | g.54293159A>T | CA385109399 | NFE2 | c.337T>A (p.Ser113Thr) c.304T>A (p.Ser102Thr) c.34T>A (p.Ser12Thr) | |
12 | g.54293160G>A | CA480094894 | NFE2 | c.336C>T (p.Leu112=) c.303C>T (p.Leu101=) c.33C>T (p.Leu11=) | gnomAD v4 |
12 | g.54293160G>C | CA480094903 | NFE2 | c.336C>G (p.Leu112=) c.303C>G (p.Leu101=) c.33C>G (p.Leu11=) | |
12 | g.54293160G>T | CA480094905 | NFE2 | c.336C>A (p.Leu112=) c.303C>A (p.Leu101=) c.33C>A (p.Leu11=) | |
12 | g.54293161A= | CA2037367912 | NFE2 | c.335T= (p.Leu112=) c.302T= (p.Leu101=) c.32T= (p.Leu11=) | |
12 | g.54293161A>C | CA385109400 | NFE2 | c.335T>G (p.Leu112Arg) c.302T>G (p.Leu101Arg) c.32T>G (p.Leu11Arg) | |
12 | g.54293161A>G | CA385109401 | NFE2 | c.335T>C (p.Leu112Pro) c.302T>C (p.Leu101Pro) c.32T>C (p.Leu11Pro) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293161A>T | CA385109402 | NFE2 | c.335T>A (p.Leu112His) c.302T>A (p.Leu101His) c.32T>A (p.Leu11His) | |
12 | g.54293162G>A | CA385109405 | NFE2 | c.334C>T (p.Leu112Phe) c.301C>T (p.Leu101Phe) c.31C>T (p.Leu11Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.54293162G>C | CA385109404 | NFE2 | c.334C>G (p.Leu112Val) c.301C>G (p.Leu101Val) c.31C>G (p.Leu11Val) | |
12 | g.54293162G= | CA2037367913 | NFE2 | c.334C= (p.Leu112=) c.301C= (p.Leu101=) c.31C= (p.Leu11=) | |
12 | g.54293162G>T | CA385109403 | NFE2 | c.334C>A (p.Leu112Ile) c.301C>A (p.Leu101Ile) c.31C>A (p.Leu11Ile) | |
12 | g.54293163G>A | CA480094912 | NFE2 | c.333C>T (p.Ser111=) c.300C>T (p.Ser100=) c.30C>T (p.Ser10=) | |
12 | g.54293163G>C | CA385109406 | NFE2 | c.333C>G (p.Ser111Arg) c.300C>G (p.Ser100Arg) c.30C>G (p.Ser10Arg) | |
12 | g.54293163G>T | CA385109407 | NFE2 | c.333C>A (p.Ser111Arg) c.300C>A (p.Ser100Arg) c.30C>A (p.Ser10Arg) | gnomAD v4 |
12 | g.54293164C>A | CA385109408 | NFE2 | c.332G>T (p.Ser111Ile) c.299G>T (p.Ser100Ile) c.29G>T (p.Ser10Ile) | |
12 | g.54293164C>G | CA385109409 | NFE2 | c.332G>C (p.Ser111Thr) c.299G>C (p.Ser100Thr) c.29G>C (p.Ser10Thr) | |
12 | g.54293164C>T | CA385109410 | NFE2 | c.332G>A (p.Ser111Asn) c.299G>A (p.Ser100Asn) c.29G>A (p.Ser10Asn) | gnomAD v4 |
12 | g.54293165T>A | CA385109411 | NFE2 | c.331A>T (p.Ser111Cys) c.298A>T (p.Ser100Cys) c.28A>T (p.Ser10Cys) | |
12 | g.54293165T>C | CA385109412 | NFE2 | c.331A>G (p.Ser111Gly) c.298A>G (p.Ser100Gly) c.28A>G (p.Ser10Gly) | |
12 | g.54293165T>G | CA385109413 | NFE2 | c.331A>C (p.Ser111Arg) c.298A>C (p.Ser100Arg) c.28A>C (p.Ser10Arg) | |
12 | g.54293166C>A | CA480094935 | NFE2 | c.330G>T (p.Leu110=) c.297G>T (p.Leu99=) c.27G>T (p.Leu9=) | |
12 | g.54293166C>G | CA480094933 | NFE2 | c.330G>C (p.Leu110=) c.297G>C (p.Leu99=) c.27G>C (p.Leu9=) | |
12 | g.54293166C>T | CA480094934 | NFE2 | c.330G>A (p.Leu110=) c.297G>A (p.Leu99=) c.27G>A (p.Leu9=) | |
12 | g.54293167A>C | CA385109416 | NFE2 | c.329T>G (p.Leu110Arg) c.296T>G (p.Leu99Arg) c.26T>G (p.Leu9Arg) | |
12 | g.54293167A>G | CA385109414 | NFE2 | c.329T>C (p.Leu110Pro) c.296T>C (p.Leu99Pro) c.26T>C (p.Leu9Pro) | |
12 | g.54293167A>T | CA385109415 | NFE2 | c.329T>A (p.Leu110Gln) c.296T>A (p.Leu99Gln) c.26T>A (p.Leu9Gln) | |
12 | g.54293168G>A | CA480094947 | NFE2 | c.328C>T (p.Leu110=) c.295C>T (p.Leu99=) c.25C>T (p.Leu9=) | |
12 | g.54293168G>C | CA385109417 | NFE2 | c.328C>G (p.Leu110Val) c.295C>G (p.Leu99Val) c.25C>G (p.Leu9Val) | |
12 | g.54293168G>T | CA385109418 | NFE2 | c.328C>A (p.Leu110Met) c.295C>A (p.Leu99Met) c.25C>A (p.Leu9Met) | |
12 | g.54293169T>A | CA480094952 | NFE2 | c.327A>T (p.Pro109=) c.294A>T (p.Pro98=) c.24A>T (p.Pro8=) | |
12 | g.54293169T>C | CA480094955 | NFE2 | c.327A>G (p.Pro109=) c.294A>G (p.Pro98=) c.24A>G (p.Pro8=) | |
12 | g.54293169T>G | CA480094956 | NFE2 | c.327A>C (p.Pro109=) c.294A>C (p.Pro98=) c.24A>C (p.Pro8=) | |
12 | g.54293170G>A | CA385109419 | NFE2 | c.326C>T (p.Pro109Leu) c.293C>T (p.Pro98Leu) c.23C>T (p.Pro8Leu) | |
12 | g.54293170G>C | CA385109420 | NFE2 | c.326C>G (p.Pro109Arg) c.293C>G (p.Pro98Arg) c.23C>G (p.Pro8Arg) | |
12 | g.54293170G>T | CA385109421 | NFE2 | c.326C>A (p.Pro109Gln) c.293C>A (p.Pro98Gln) c.23C>A (p.Pro8Gln) | |
12 | g.54293171G>A | CA385109422 | NFE2 | c.325C>T (p.Pro109Ser) c.292C>T (p.Pro98Ser) c.22C>T (p.Pro8Ser) | gnomAD v4 |
12 | g.54293171G>C | CA385109424 | NFE2 | c.325C>G (p.Pro109Ala) c.292C>G (p.Pro98Ala) c.22C>G (p.Pro8Ala) | |
12 | g.54293171G>T | CA385109423 | NFE2 | c.325C>A (p.Pro109Thr) c.292C>A (p.Pro98Thr) c.22C>A (p.Pro8Thr) | |
12 | g.54293172C>A | CA385109425 | NFE2 | c.324G>T (p.Lys108Asn) c.291G>T (p.Lys97Asn) c.21G>T (p.Lys7Asn) | gnomAD v4 |
12 | g.54293172C= | CA2037367914 | NFE2 | c.324G= (p.Lys108=) c.291G= (p.Lys97=) c.21G= (p.Lys7=) | |
12 | g.54293172C>G | CA385109426 | NFE2 | c.324G>C (p.Lys108Asn) c.291G>C (p.Lys97Asn) c.21G>C (p.Lys7Asn) | gnomAD v4 |
12 | g.54293172C>T | CA237415357 | NFE2 | c.324G>A (p.Lys108=) c.291G>A (p.Lys97=) c.21G>A (p.Lys7=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293173T>A | CA385109427 | NFE2 | c.323A>T (p.Lys108Met) c.290A>T (p.Lys97Met) c.20A>T (p.Lys7Met) | |
12 | g.54293173T>C | CA385109428 | NFE2 | c.323A>G (p.Lys108Arg) c.290A>G (p.Lys97Arg) c.20A>G (p.Lys7Arg) | |
12 | g.54293173T>G | CA385109429 | NFE2 | c.323A>C (p.Lys108Thr) c.290A>C (p.Lys97Thr) c.20A>C (p.Lys7Thr) | |
12 | g.54293174T>A | CA385109430 | NFE2 | c.322A>T (p.Lys108Ter) c.289A>T (p.Lys97Ter) c.19A>T (p.Lys7Ter) | |
12 | g.54293174T>C | CA385109431 | NFE2 | c.322A>G (p.Lys108Glu) c.289A>G (p.Lys97Glu) c.19A>G (p.Lys7Glu) | gnomAD v4 |
12 | g.54293174T>G | CA385109432 | NFE2 | c.322A>C (p.Lys108Gln) c.289A>C (p.Lys97Gln) c.19A>C (p.Lys7Gln) | |
12 | g.54293175G>A | CA480094978 | NFE2 | c.321C>T (p.Ser107=) c.288C>T (p.Ser96=) c.18C>T (p.Ser6=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293175G>C | CA480094988 | NFE2 | c.321C>G (p.Ser107=) c.288C>G (p.Ser96=) c.18C>G (p.Ser6=) | |
12 | g.54293175G= | CA2037367915 | NFE2 | c.321C= (p.Ser107=) c.288C= (p.Ser96=) c.18C= (p.Ser6=) | |
12 | g.54293175G>T | CA6606600 | NFE2 | c.321C>A (p.Ser107=) c.288C>A (p.Ser96=) c.18C>A (p.Ser6=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.54293176G>A | CA385109435 | NFE2 | c.320C>T (p.Ser107Phe) c.287C>T (p.Ser96Phe) c.17C>T (p.Ser6Phe) | gnomAD v4 |
12 | g.54293176G>C | CA385109434 | NFE2 | c.320C>G (p.Ser107Cys) c.287C>G (p.Ser96Cys) c.17C>G (p.Ser6Cys) | |
12 | g.54293176G>T | CA385109433 | NFE2 | c.320C>A (p.Ser107Tyr) c.287C>A (p.Ser96Tyr) c.17C>A (p.Ser6Tyr) | |
12 | g.54293177A= | CA2037367916 | NFE2 | c.319T= (p.Ser107=) c.286T= (p.Ser96=) c.16T= (p.Ser6=) | |
12 | g.54293177A>C | CA385109436 | NFE2 | c.319T>G (p.Ser107Ala) c.286T>G (p.Ser96Ala) c.16T>G (p.Ser6Ala) | |
12 | g.54293177A>G | CA6606601 | NFE2 | c.319T>C (p.Ser107Pro) c.286T>C (p.Ser96Pro) c.16T>C (p.Ser6Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.54293177A>T | CA385109437 | NFE2 | c.319T>A (p.Ser107Thr) c.286T>A (p.Ser96Thr) c.16T>A (p.Ser6Thr) | gnomAD v4 |
12 | g.54293178G>A | CA480095005 | NFE2 | c.318C>T (p.Val106=) c.285C>T (p.Val95=) c.15C>T (p.Val5=) | |
12 | g.54293178G>C | CA480095006 | NFE2 | c.318C>G (p.Val106=) c.285C>G (p.Val95=) c.15C>G (p.Val5=) | |
12 | g.54293178G>T | CA480095007 | NFE2 | c.318C>A (p.Val106=) c.285C>A (p.Val95=) c.15C>A (p.Val5=) | |
12 | g.54293179A= | CA2037367917 | NFE2 | c.317T= (p.Val106=) c.284T= (p.Val95=) c.14T= (p.Val5=) | |
12 | g.54293179A>C | CA385109438 | NFE2 | c.317T>G (p.Val106Gly) c.284T>G (p.Val95Gly) c.14T>G (p.Val5Gly) | |
12 | g.54293179A>G | CA385109439 | NFE2 | c.317T>C (p.Val106Ala) c.284T>C (p.Val95Ala) c.14T>C (p.Val5Ala) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293179A>T | CA385109440 | NFE2 | c.317T>A (p.Val106Asp) c.284T>A (p.Val95Asp) c.14T>A (p.Val5Asp) | |
12 | g.54293180C>A | CA385109441 | NFE2 | c.316G>T (p.Val106Phe) c.283G>T (p.Val95Phe) c.13G>T (p.Val5Phe) | |
12 | g.54293180C>G | CA385109442 | NFE2 | c.316G>C (p.Val106Leu) c.283G>C (p.Val95Leu) c.13G>C (p.Val5Leu) | |
12 | g.54293180C>T | CA385109443 | NFE2 | c.316G>A (p.Val106Ile) c.283G>A (p.Val95Ile) c.13G>A (p.Val5Ile) | |
12 | g.54293181T>A | CA480095013 | NFE2 | c.315A>T (p.Pro105=) c.282A>T (p.Pro94=) c.12A>T (p.Pro4=) | |
12 | g.54293181T>C | CA480095015 | NFE2 | c.315A>G (p.Pro105=) c.282A>G (p.Pro94=) c.12A>G (p.Pro4=) | gnomAD v4 |
12 | g.54293181T>G | CA480095018 | NFE2 | c.315A>C (p.Pro105=) c.282A>C (p.Pro94=) c.12A>C (p.Pro4=) | |
12 | g.54293182G>A | CA385109444 | NFE2 | c.314C>T (p.Pro105Leu) c.281C>T (p.Pro94Leu) c.11C>T (p.Pro4Leu) | |
12 | g.54293182G>C | CA385109445 | NFE2 | c.314C>G (p.Pro105Arg) c.281C>G (p.Pro94Arg) c.11C>G (p.Pro4Arg) | |
12 | g.54293182G>T | CA385109446 | NFE2 | c.314C>A (p.Pro105Gln) c.281C>A (p.Pro94Gln) c.11C>A (p.Pro4Gln) | |
12 | g.54293183del | CA2575178102 | NFE2 | c.314del (p.Pro105GlnfsTer6) c.281del (p.Pro94GlnfsTer6) c.11del (p.Pro4GlnfsTer6) | |
12 | g.54293183G>A | CA385109448 | NFE2 | c.313C>T (p.Pro105Ser) c.280C>T (p.Pro94Ser) c.10C>T (p.Pro4Ser) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293183G>C | CA385109449 | NFE2 | c.313C>G (p.Pro105Ala) c.280C>G (p.Pro94Ala) c.10C>G (p.Pro4Ala) | gnomAD v4 |
12 | g.54293183G= | CA2037367918 | NFE2 | c.313C= (p.Pro105=) c.280C= (p.Pro94=) c.10C= (p.Pro4=) | |
12 | g.54293183G>T | CA385109447 | NFE2 | c.313C>A (p.Pro105Thr) c.280C>A (p.Pro94Thr) c.10C>A (p.Pro4Thr) | |
12 | g.54293184T>A | CA480095028 | NFE2 | c.312A>T (p.Ile104=) c.279A>T (p.Ile93=) c.9A>T (p.Ile3=) | |
12 | g.54293184T>C | CA385109450 | NFE2 | c.312A>G (p.Ile104Met) c.279A>G (p.Ile93Met) c.9A>G (p.Ile3Met) | gnomAD v4 |
12 | g.54293184T>G | CA480095024 | NFE2 | c.312A>C (p.Ile104=) c.279A>C (p.Ile93=) c.9A>C (p.Ile3=) | |
12 | g.54293185A= | CA2037367919 | NFE2 | c.311T= (p.Ile104=) c.278T= (p.Ile93=) c.8T= (p.Ile3=) | |
12 | g.54293185A>C | CA385109451 | NFE2 | c.311T>G (p.Ile104Arg) c.278T>G (p.Ile93Arg) c.8T>G (p.Ile3Arg) | |
12 | g.54293185A>G | CA385109452 | NFE2 | c.311T>C (p.Ile104Thr) c.278T>C (p.Ile93Thr) c.8T>C (p.Ile3Thr) | gnomAD v4 |
12 | g.54293185A>T | CA385109453 | NFE2 | c.311T>A (p.Ile104Lys) c.278T>A (p.Ile93Lys) c.8T>A (p.Ile3Lys) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293186T>A | CA385109456 | NFE2 | c.310A>T (p.Ile104Leu) c.277A>T (p.Ile93Leu) c.7A>T (p.Ile3Leu) | |
12 | g.54293186T>C | CA385109455 | NFE2 | c.310A>G (p.Ile104Val) c.277A>G (p.Ile93Val) c.7A>G (p.Ile3Val) | gnomAD v4 |
12 | g.54293186T>G | CA385109454 | NFE2 | c.310A>C (p.Ile104Leu) c.277A>C (p.Ile93Leu) c.7A>C (p.Ile3Leu) | |
12 | g.54293187G>A | CA480095037 | NFE2 | c.309C>T (p.Ala103=) c.276C>T (p.Ala92=) c.6C>T (p.Ala2=) | dbSNP COSMIC |
12 | g.54293187G>C | CA480095036 | NFE2 | c.309C>G (p.Ala103=) c.276C>G (p.Ala92=) c.6C>G (p.Ala2=) | |
12 | g.54293187G= | CA2037367920 | NFE2 | c.309C= (p.Ala103=) c.276C= (p.Ala92=) c.6C= (p.Ala2=) | |
12 | g.54293187G>T | CA480095035 | NFE2 | c.309C>A (p.Ala103=) c.276C>A (p.Ala92=) c.6C>A (p.Ala2=) | gnomAD v4 |
12 | g.54293188G>A | CA385109457 | NFE2 | c.308C>T (p.Ala103Val) c.275C>T (p.Ala92Val) c.5C>T (p.Ala2Val) | gnomAD v4 |
12 | g.54293188G>C | CA385109458 | NFE2 | c.308C>G (p.Ala103Gly) c.275C>G (p.Ala92Gly) c.5C>G (p.Ala2Gly) | |
12 | g.54293188G>T | CA385109459 | NFE2 | c.308C>A (p.Ala103Asp) c.275C>A (p.Ala92Asp) c.5C>A (p.Ala2Asp) | |
12 | g.54293189C>A | CA385109460 | NFE2 | c.307G>T (p.Ala103Ser) c.274G>T (p.Ala92Ser) c.4G>T (p.Ala2Ser) | |
12 | g.54293189C>G | CA385109461 | NFE2 | c.307G>C (p.Ala103Pro) c.274G>C (p.Ala92Pro) c.4G>C (p.Ala2Pro) | |
12 | g.54293189C>T | CA385109462 | NFE2 | c.307G>A (p.Ala103Thr) c.274G>A (p.Ala92Thr) c.4G>A (p.Ala2Thr) | gnomAD v4 |
12 | g.54293190C>A | CA385109463 | NFE2 | c.306G>T (p.Met102Ile) c.273G>T (p.Met91Ile) c.3G>T (p.Met1Ile) | |
12 | g.54293190C= | CA2037367921 | NFE2 | c.306G= (p.Met102=) c.273G= (p.Met91=) c.3G= (p.Met1=) | |
12 | g.54293190C>G | CA385109465 | NFE2 | c.306G>C (p.Met102Ile) c.273G>C (p.Met91Ile) c.3G>C (p.Met1Ile) | |
12 | g.54293190C>T | CA385109464 | NFE2 | c.306G>A (p.Met102Ile) c.273G>A (p.Met91Ile) c.3G>A (p.Met1Ile) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293191del | CA2619126562 | NFE2 | c.305del (p.Met102ArgfsTer9) c.272del (p.Met91ArgfsTer9) c.2del (p.Met1ArgfsTer9) | gnomAD v4 |
12 | g.54293191A>C | CA385109466 | NFE2 | c.305T>G (p.Met102Arg) c.272T>G (p.Met91Arg) c.2T>G (p.Met1Arg) | |
12 | g.54293191A>G | CA385109467 | NFE2 | c.305T>C (p.Met102Thr) c.272T>C (p.Met91Thr) c.2T>C (p.Met1Thr) | |
12 | g.54293191A>T | CA385109468 | NFE2 | c.305T>A (p.Met102Lys) c.272T>A (p.Met91Lys) c.2T>A (p.Met1Lys) | |
12 | g.54293192T>A | CA385109469 | NFE2 | c.304A>T (p.Met102Leu) c.271A>T (p.Met91Leu) c.1A>T (p.Met1Leu) | |
12 | g.54293192T>C | CA385109470 | NFE2 | c.304A>G (p.Met102Val) c.271A>G (p.Met91Val) c.1A>G (p.Met1Val) | |
12 | g.54293192T>G | CA385109471 | NFE2 | c.304A>C (p.Met102Leu) c.271A>C (p.Met91Leu) c.1A>C (p.Met1Leu) | |
12 | g.54293193G>A | CA480095060 | NFE2 | c.303C>T (p.Asn101=) c.270C>T (p.Asn90=) c.-1C>T (n.-1C>T) | COSMIC |
12 | g.54293193G>C | CA385109472 | NFE2 | c.303C>G (p.Asn101Lys) c.270C>G (p.Asn90Lys) c.-1C>G (n.-1C>G) | |
12 | g.54293193G>T | CA385109473 | NFE2 | c.303C>A (p.Asn101Lys) c.270C>A (p.Asn90Lys) c.-1C>A (n.-1C>A) | gnomAD v4 |
12 | g.54293194T>A | CA385109474 | NFE2 | c.302A>T (p.Asn101Ile) c.269A>T (p.Asn90Ile) c.-2A>T (n.-2A>T) | |
12 | g.54293194T>C | CA385109475 | NFE2 | c.302A>G (p.Asn101Ser) c.269A>G (p.Asn90Ser) c.-2A>G (n.-2A>G) | gnomAD v4 |
12 | g.54293194T>G | CA385109476 | NFE2 | c.302A>C (p.Asn101Thr) c.269A>C (p.Asn90Thr) c.-2A>C (n.-2A>C) | |
12 | g.54293195del | CA2619126570 | NFE2 | c.302del (p.Asn101ThrfsTer10) c.269del (p.Asn90ThrfsTer10) c.-2del (n.-2del) | gnomAD v4 |
12 | g.54293195T>A | CA385109477 | NFE2 | c.301A>T (p.Asn101Tyr) c.268A>T (p.Asn90Tyr) c.-3A>T (n.-3A>T) | |
12 | g.54293195T>C | CA385109478 | NFE2 | c.301A>G (p.Asn101Asp) c.268A>G (p.Asn90Asp) c.-3A>G (n.-3A>G) | |
12 | g.54293195T>G | CA385109479 | NFE2 | c.301A>C (p.Asn101His) c.268A>C (p.Asn90His) c.-3A>C (n.-3A>C) | |
12 | g.54293196G>A | CA480095064 | NFE2 | c.300C>T (p.Gly100=) c.267C>T (p.Gly89=) c.-4C>T (n.-4C>T) | |
12 | g.54293196G>C | CA480095066 | NFE2 | c.300C>G (p.Gly100=) c.267C>G (p.Gly89=) c.-4C>G (n.-4C>G) | |
12 | g.54293196G>T | CA480095067 | NFE2 | c.300C>A (p.Gly100=) c.267C>A (p.Gly89=) c.-4C>A (n.-4C>A) | gnomAD v4 |
12 | g.54293197C>A | CA385109482 | NFE2 | c.299G>T (p.Gly100Val) c.266G>T (p.Gly89Val) c.-5G>T (n.-5G>T) | gnomAD v4 |
12 | g.54293197C>G | CA385109481 | NFE2 | c.299G>C (p.Gly100Ala) c.266G>C (p.Gly89Ala) c.-5G>C (n.-5G>C) | |
12 | g.54293197C>T | CA385109480 | NFE2 | c.299G>A (p.Gly100Asp) c.266G>A (p.Gly89Asp) c.-5G>A (n.-5G>A) | gnomAD v4 |
12 | g.54293198del | CA2619126580 | NFE2 | c.299del (p.Gly100AlafsTer11) c.266del (p.Gly89AlafsTer11) c.-5del (n.-5del) | gnomAD v4 |
12 | g.54293198C>A | CA385109483 | NFE2 | c.298G>T (p.Gly100Cys) c.265G>T (p.Gly89Cys) c.-6G>T (n.-6G>T) | |
12 | g.54293198C= | CA2037367922 | NFE2 | c.298G= (p.Gly100=) c.265G= (p.Gly89=) c.-6G= (n.-6G=) | |
12 | g.54293198C>G | CA385109484 | NFE2 | c.298G>C (p.Gly100Arg) c.265G>C (p.Gly89Arg) c.-6G>C (n.-6G>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293198C>T | CA385109485 | NFE2 | c.298G>A (p.Gly100Ser) c.265G>A (p.Gly89Ser) c.-6G>A (n.-6G>A) | |
12 | g.54293199A= | CA2037367923 | NFE2 | c.297T= (p.Tyr99=) c.264T= (p.Tyr88=) c.-7T= (n.-7T=) | |
12 | g.54293199A>C | CA385109486 | NFE2 | c.297T>G (p.Tyr99Ter) c.264T>G (p.Tyr88Ter) c.-7T>G (n.-7T>G) | |
12 | g.54293199A>G | CA6606602 | NFE2 | c.297T>C (p.Tyr99=) c.264T>C (p.Tyr88=) c.-7T>C (n.-7T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293199A>T | CA385109487 | NFE2 | c.297T>A (p.Tyr99Ter) c.264T>A (p.Tyr88Ter) c.-7T>A (n.-7T>A) | |
12 | g.54293200T>A | CA385109488 | NFE2 | c.296A>T (p.Tyr99Phe) c.263A>T (p.Tyr88Phe) c.-8A>T (n.-8A>T) | |
12 | g.54293200T>C | CA6606603 | NFE2 | c.296A>G (p.Tyr99Cys) c.263A>G (p.Tyr88Cys) c.-8A>G (n.-8A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.54293200T>G | CA385109489 | NFE2 | c.296A>C (p.Tyr99Ser) c.263A>C (p.Tyr88Ser) c.-8A>C (n.-8A>C) | |
12 | g.54293200T= | CA2037367924 | NFE2 | c.296A= (p.Tyr99=) c.263A= (p.Tyr88=) c.-8A= (n.-8A=) | |
12 | g.54293201A= | CA2037367925 | NFE2 | c.295T= (p.Tyr99=) c.262T= (p.Tyr88=) c.-9T= (n.-9T=) | |
12 | g.54293201A>C | CA385109490 | NFE2 | c.295T>G (p.Tyr99Asp) c.262T>G (p.Tyr88Asp) c.-9T>G (n.-9T>G) | |
12 | g.54293201A>G | CA385109491 | NFE2 | c.295T>C (p.Tyr99His) c.262T>C (p.Tyr88His) c.-9T>C (n.-9T>C) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293201A>T | CA385109492 | NFE2 | c.295T>A (p.Tyr99Asn) c.262T>A (p.Tyr88Asn) c.-9T>A (n.-9T>A) | |
12 | g.54293201_54293202delinsAG | CA2037367926 | NFE2 | c.294_295delinsCT (p.Ser98=) c.261_262delinsCT (p.Ser87=) c.-10_-9delinsCT (n.-10_-9delinsCT) | |
12 | g.54293202G>A | CA480095083 | NFE2 | c.294C>T (p.Ser98=) c.261C>T (p.Ser87=) c.-10C>T (n.-10C>T) | |
12 | g.54293202G>C | CA480095084 | NFE2 | c.294C>G (p.Ser98=) c.261C>G (p.Ser87=) c.-10C>G (n.-10C>G) | |
12 | g.54293202G>T | CA480095085 | NFE2 | c.294C>A (p.Ser98=) c.261C>A (p.Ser87=) c.-10C>A (n.-10C>A) | |
12 | g.54293203del | CA605245645 | NFE2 | c.294del (p.Tyr99MetfsTer12) c.261del (p.Tyr88MetfsTer12) c.-10del (n.-10del) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293203G>A | CA385109493 | NFE2 | c.293C>T (p.Ser98Phe) c.260C>T (p.Ser87Phe) c.-11C>T (n.-11C>T) | |
12 | g.54293203G>C | CA385109494 | NFE2 | c.293C>G (p.Ser98Cys) c.260C>G (p.Ser87Cys) c.-11C>G (n.-11C>G) | |
12 | g.54293203G>T | CA385109495 | NFE2 | c.293C>A (p.Ser98Tyr) c.260C>A (p.Ser87Tyr) c.-11C>A (n.-11C>A) | gnomAD v4 |
12 | g.54293204A= | CA2037367927 | NFE2 | c.292T= (p.Ser98=) c.259T= (p.Ser87=) c.-12T= (n.-12T=) | |
12 | g.54293204A>C | CA385109497 | NFE2 | c.292T>G (p.Ser98Ala) c.259T>G (p.Ser87Ala) c.-12T>G (n.-12T>G) | dbSNP |
12 | g.54293204A>G | CA385109498 | NFE2 | c.292T>C (p.Ser98Pro) c.259T>C (p.Ser87Pro) c.-12T>C (n.-12T>C) | |
12 | g.54293204A>T | CA385109496 | NFE2 | c.292T>A (p.Ser98Thr) c.259T>A (p.Ser87Thr) c.-12T>A (n.-12T>A) | |
12 | g.54293205G>A | CA480095094 | NFE2 | c.291C>T (p.Tyr97=) c.258C>T (p.Tyr86=) c.-13C>T (n.-13C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293205G>C | CA385109499 | NFE2 | c.291C>G (p.Tyr97Ter) c.258C>G (p.Tyr86Ter) c.-13C>G (n.-13C>G) | |
12 | g.54293205G= | CA2037367928 | NFE2 | c.291C= (p.Tyr97=) c.258C= (p.Tyr86=) c.-13C= (n.-13C=) | |
12 | g.54293205G>T | CA385109500 | NFE2 | c.291C>A (p.Tyr97Ter) c.258C>A (p.Tyr86Ter) c.-13C>A (n.-13C>A) | gnomAD v4 |
12 | g.54293206T>A | CA385109501 | NFE2 | c.290A>T (p.Tyr97Phe) c.257A>T (p.Tyr86Phe) c.-14A>T (n.-14A>T) | |
12 | g.54293206T>C | CA385109502 | NFE2 | c.290A>G (p.Tyr97Cys) c.257A>G (p.Tyr86Cys) c.-14A>G (n.-14A>G) | gnomAD v4 |
12 | g.54293206T>G | CA385109503 | NFE2 | c.290A>C (p.Tyr97Ser) c.257A>C (p.Tyr86Ser) c.-14A>C (n.-14A>C) | |
12 | g.54293207A>C | CA385109506 | NFE2 | c.289T>G (p.Tyr97Asp) c.256T>G (p.Tyr86Asp) c.-15T>G (n.-15T>G) | |
12 | g.54293207A>G | CA385109505 | NFE2 | c.289T>C (p.Tyr97His) c.256T>C (p.Tyr86His) c.-15T>C (n.-15T>C) | |
12 | g.54293207A>T | CA385109504 | NFE2 | c.289T>A (p.Tyr97Asn) c.256T>A (p.Tyr86Asn) c.-15T>A (n.-15T>A) | |
12 | g.54293208T>A | CA480095106 | NFE2 | c.288A>T (p.Pro96=) c.255A>T (p.Pro85=) c.-16A>T (n.-16A>T) | gnomAD v4 |
12 | g.54293208T>C | CA480095108 | NFE2 | c.288A>G (p.Pro96=) c.255A>G (p.Pro85=) c.-16A>G (n.-16A>G) | |
12 | g.54293208T>G | CA480095109 | NFE2 | c.288A>C (p.Pro96=) c.255A>C (p.Pro85=) c.-16A>C (n.-16A>C) | |
12 | g.54293208_54293209delinsTG | CA2037367929 | NFE2 | c.287_288delinsCA (p.Pro96=) c.254_255delinsCA (p.Pro85=) c.-17_-16delinsCA (n.-17_-16delinsCA) | |
12 | g.54293209G>A | CA385109507 | NFE2 | c.287C>T (p.Pro96Leu) c.254C>T (p.Pro85Leu) c.-17C>T (n.-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293209G>C | CA385109508 | NFE2 | c.287C>G (p.Pro96Arg) c.254C>G (p.Pro85Arg) c.-17C>G (n.-17C>G) | |
12 | g.54293209G= | CA2037367931 | NFE2 | c.287C= (p.Pro96=) c.254C= (p.Pro85=) c.-17C= (n.-17C=) | |
12 | g.54293209G>T | CA385109509 | NFE2 | c.287C>A (p.Pro96Gln) c.254C>A (p.Pro85Gln) c.-17C>A (n.-17C>A) | |
12 | g.54293213del | CA2037367930 | NFE2 | c.287del (p.Pro96HisfsTer15) c.254del (p.Pro85HisfsTer15) c.-17del (n.-17del) | dbSNP |
12 | g.54293210G>A | CA385109510 | NFE2 | c.286C>T (p.Pro96Ser) c.253C>T (p.Pro85Ser) c.-18C>T (n.-18C>T) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293210G>C | CA6606604 | NFE2 | c.286C>G (p.Pro96Ala) c.253C>G (p.Pro85Ala) c.-18C>G (n.-18C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.54293210G= | CA2037367932 | NFE2 | c.286C= (p.Pro96=) c.253C= (p.Pro85=) c.-18C= (n.-18C=) | |
12 | g.54293210G>T | CA385109511 | NFE2 | c.286C>A (p.Pro96Thr) c.253C>A (p.Pro85Thr) c.-18C>A (n.-18C>A) | |
12 | g.54293211G>A | CA480095129 | NFE2 | c.285C>T (p.Pro95=) c.252C>T (p.Pro84=) c.-19C>T (n.-19C>T) | |
12 | g.54293211G>C | CA480095128 | NFE2 | c.285C>G (p.Pro95=) c.252C>G (p.Pro84=) c.-19C>G (n.-19C>G) | |
12 | g.54293211G>T | CA480095127 | NFE2 | c.285C>A (p.Pro95=) c.252C>A (p.Pro84=) c.-19C>A (n.-19C>A) | |
12 | g.54293212G>A | CA385109512 | NFE2 | c.284C>T (p.Pro95Leu) c.251C>T (p.Pro84Leu) c.-20C>T (n.-20C>T) | gnomAD v4 |
12 | g.54293212G>C | CA385109514 | NFE2 | c.284C>G (p.Pro95Arg) c.251C>G (p.Pro84Arg) c.-20C>G (n.-20C>G) | |
12 | g.54293212G>T | CA385109513 | NFE2 | c.284C>A (p.Pro95His) c.251C>A (p.Pro84His) c.-20C>A (n.-20C>A) | |
12 | g.54293213G>A | CA6606605 | NFE2 | c.283C>T (p.Pro95Ser) c.250C>T (p.Pro84Ser) c.-21C>T (n.-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293213G>C | CA385109515 | NFE2 | c.283C>G (p.Pro95Ala) c.250C>G (p.Pro84Ala) c.-21C>G (n.-21C>G) | |
12 | g.54293213G= | CA2037367933 | NFE2 | c.283C= (p.Pro95=) c.250C= (p.Pro84=) c.-21C= (n.-21C=) | |
12 | g.54293213G>T | CA385109516 | NFE2 | c.283C>A (p.Pro95Thr) c.250C>A (p.Pro84Thr) c.-21C>A (n.-21C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293214A>C | CA385109517 | NFE2 | c.282T>G (p.Asp94Glu) c.249T>G (p.Asp83Glu) c.-22T>G (n.-22T>G) | |
12 | g.54293214A>G | CA480095137 | NFE2 | c.282T>C (p.Asp94=) c.249T>C (p.Asp83=) c.-22T>C (n.-22T>C) | |
12 | g.54293214A>T | CA385109518 | NFE2 | c.282T>A (p.Asp94Glu) c.249T>A (p.Asp83Glu) c.-22T>A (n.-22T>A) | |
12 | g.54293215T>A | CA385109519 | NFE2 | c.281A>T (p.Asp94Val) c.248A>T (p.Asp83Val) c.-23A>T (n.-23A>T) | |
12 | g.54293215T>C | CA385109520 | NFE2 | c.281A>G (p.Asp94Gly) c.248A>G (p.Asp83Gly) c.-23A>G (n.-23A>G) | |
12 | g.54293215T>G | CA385109521 | NFE2 | c.281A>C (p.Asp94Ala) c.248A>C (p.Asp83Ala) c.-23A>C (n.-23A>C) | |
12 | g.54293216C>A | CA385109522 | NFE2 | c.280G>T (p.Asp94Tyr) c.247G>T (p.Asp83Tyr) c.-24G>T (n.-24G>T) | gnomAD v4 |
12 | g.54293216C>G | CA385109523 | NFE2 | c.280G>C (p.Asp94His) c.247G>C (p.Asp83His) c.-24G>C (n.-24G>C) | gnomAD v4 |
12 | g.54293216C>T | CA385109524 | NFE2 | c.280G>A (p.Asp94Asn) c.247G>A (p.Asp83Asn) c.-24G>A (n.-24G>A) | |
12 | g.54293216_54293223del | CA2619126639 | NFE2 | c.273_280del (p.His91GlnfsTer25) c.240_247del (p.His80GlnfsTer25) c.-31_-24del (n.-31_-24del) | gnomAD v4 |
12 | g.54293217T>A | CA480095144 | NFE2 | c.279A>T (p.Pro93=) c.246A>T (p.Pro82=) c.-25A>T (n.-25A>T) | |
12 | g.54293217T>C | CA480095146 | NFE2 | c.279A>G (p.Pro93=) c.246A>G (p.Pro82=) c.-25A>G (n.-25A>G) | |
12 | g.54293217T>G | CA480095145 | NFE2 | c.279A>C (p.Pro93=) c.246A>C (p.Pro82=) c.-25A>C (n.-25A>C) | |
12 | g.54293218G>A | CA385109525 | NFE2 | c.278C>T (p.Pro93Leu) c.245C>T (p.Pro82Leu) c.-26C>T (n.-26C>T) | gnomAD v4 |
12 | g.54293218G>C | CA385109527 | NFE2 | c.278C>G (p.Pro93Arg) c.245C>G (p.Pro82Arg) c.-26C>G (n.-26C>G) | |
12 | g.54293218G>T | CA385109526 | NFE2 | c.278C>A (p.Pro93Gln) c.245C>A (p.Pro82Gln) c.-26C>A (n.-26C>A) | |
12 | g.54293219G>A | CA385109528 | NFE2 | c.277C>T (p.Pro93Ser) c.244C>T (p.Pro82Ser) c.-27C>T (n.-27C>T) | |
12 | g.54293219G>C | CA385109530 | NFE2 | c.277C>G (p.Pro93Ala) c.244C>G (p.Pro82Ala) c.-27C>G (n.-27C>G) | |
12 | g.54293219G= | CA2037367934 | NFE2 | c.277C= (p.Pro93=) c.244C= (p.Pro82=) c.-27C= (n.-27C=) | |
12 | g.54293219G>T | CA385109529 | NFE2 | c.277C>A (p.Pro93Thr) c.244C>A (p.Pro82Thr) c.-27C>A (n.-27C>A) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293220G>A | CA480095158 | NFE2 | c.276C>T (p.Val92=) c.243C>T (p.Val81=) c.-28C>T (n.-28C>T) | |
12 | g.54293220G>C | CA480095161 | NFE2 | c.276C>G (p.Val92=) c.243C>G (p.Val81=) c.-28C>G (n.-28C>G) | |
12 | g.54293220G>T | CA480095162 | NFE2 | c.276C>A (p.Val92=) c.243C>A (p.Val81=) c.-28C>A (n.-28C>A) | |
12 | g.54293221A>C | CA385109531 | NFE2 | c.275T>G (p.Val92Gly) c.242T>G (p.Val81Gly) c.-29T>G (n.-29T>G) | |
12 | g.54293221A>G | CA385109532 | NFE2 | c.275T>C (p.Val92Ala) c.242T>C (p.Val81Ala) c.-29T>C (n.-29T>C) | gnomAD v4 |
12 | g.54293221A>T | CA385109533 | NFE2 | c.275T>A (p.Val92Asp) c.242T>A (p.Val81Asp) c.-29T>A (n.-29T>A) | |
12 | g.54293222C>A | CA385109534 | NFE2 | c.274G>T (p.Val92Phe) c.241G>T (p.Val81Phe) c.-30G>T (n.-30G>T) | gnomAD v4 |
12 | g.54293222C>G | CA385109535 | NFE2 | c.274G>C (p.Val92Leu) c.241G>C (p.Val81Leu) c.-30G>C (n.-30G>C) | |
12 | g.54293222C>T | CA385109536 | NFE2 | c.274G>A (p.Val92Ile) c.241G>A (p.Val81Ile) c.-30G>A (n.-30G>A) | gnomAD v4 |
12 | g.54293223A>C | CA385109537 | NFE2 | c.273T>G (p.His91Gln) c.240T>G (p.His80Gln) c.-31T>G (n.-31T>G) | |
12 | g.54293223A>G | CA480095170 | NFE2 | c.273T>C (p.His91=) c.240T>C (p.His80=) c.-31T>C (n.-31T>C) | gnomAD v4 |
12 | g.54293223A>T | CA385109538 | NFE2 | c.273T>A (p.His91Gln) c.240T>A (p.His80Gln) c.-31T>A (n.-31T>A) | |
12 | g.54293224T>A | CA385109539 | NFE2 | c.272A>T (p.His91Leu) c.239A>T (p.His80Leu) c.-32A>T (n.-32A>T) | |
12 | g.54293224T>C | CA385109540 | NFE2 | c.272A>G (p.His91Arg) c.239A>G (p.His80Arg) c.-32A>G (n.-32A>G) | |
12 | g.54293224T>G | CA385109541 | NFE2 | c.272A>C (p.His91Pro) c.239A>C (p.His80Pro) c.-32A>C (n.-32A>C) | |
12 | g.54293225G>A | CA385109544 | NFE2 | c.271C>T (p.His91Tyr) c.238C>T (p.His80Tyr) c.-33C>T (n.-33C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293225G>C | CA385109543 | NFE2 | c.271C>G (p.His91Asp) c.238C>G (p.His80Asp) c.-33C>G (n.-33C>G) | |
12 | g.54293225G= | CA2037367935 | NFE2 | c.271C= (p.His91=) c.238C= (p.His80=) c.-33C= (n.-33C=) | |
12 | g.54293225G>T | CA385109542 | NFE2 | c.271C>A (p.His91Asn) c.238C>A (p.His80Asn) c.-33C>A (n.-33C>A) | |
12 | g.54293226G>A | CA480095178 | NFE2 | c.270C>T (p.Ser90=) c.237C>T (p.Ser79=) c.-34C>T (n.-34C>T) | gnomAD v4 |
12 | g.54293226G>C | CA480095179 | NFE2 | c.270C>G (p.Ser90=) c.237C>G (p.Ser79=) c.-34C>G (n.-34C>G) | |
12 | g.54293226G>T | CA480095181 | NFE2 | c.270C>A (p.Ser90=) c.237C>A (p.Ser79=) c.-34C>A (n.-34C>A) | |
12 | g.54293227G>A | CA385109545 | NFE2 | c.269C>T (p.Ser90Phe) c.236C>T (p.Ser79Phe) c.-35C>T (n.-35C>T) | gnomAD v4 |
12 | g.54293227G>C | CA385109546 | NFE2 | c.269C>G (p.Ser90Cys) c.236C>G (p.Ser79Cys) c.-35C>G (n.-35C>G) | |
12 | g.54293227G>T | CA385109547 | NFE2 | c.269C>A (p.Ser90Tyr) c.236C>A (p.Ser79Tyr) c.-35C>A (n.-35C>A) | |
12 | g.54293228A>C | CA385109548 | NFE2 | c.268T>G (p.Ser90Ala) c.235T>G (p.Ser79Ala) c.-36T>G (n.-36T>G) | |
12 | g.54293228A>G | CA385109549 | NFE2 | c.268T>C (p.Ser90Pro) c.235T>C (p.Ser79Pro) c.-36T>C (n.-36T>C) | COSMIC |
12 | g.54293228A>T | CA385109550 | NFE2 | c.268T>A (p.Ser90Thr) c.235T>A (p.Ser79Thr) c.-36T>A (n.-36T>A) | |
12 | g.54293229T>A | CA480095187 | NFE2 | c.267A>T (p.Thr89=) c.234A>T (p.Thr78=) c.-37A>T (n.-37A>T) | |
12 | g.54293229T>C | CA480095188 | NFE2 | c.267A>G (p.Thr89=) c.234A>G (p.Thr78=) c.-37A>G (n.-37A>G) | |
12 | g.54293229T>G | CA480095189 | NFE2 | c.267A>C (p.Thr89=) c.234A>C (p.Thr78=) c.-37A>C (n.-37A>C) | |
12 | g.54293230G>A | CA6606606 | NFE2 | c.266C>T (p.Thr89Ile) c.233C>T (p.Thr78Ile) c.-38C>T (n.-38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293230G>C | CA385109551 | NFE2 | c.266C>G (p.Thr89Arg) c.233C>G (p.Thr78Arg) c.-38C>G (n.-38C>G) | |
12 | g.54293230G= | CA2037367936 | NFE2 | c.266C= (p.Thr89=) c.233C= (p.Thr78=) c.-38C= (n.-38C=) | |
12 | g.54293230G>T | CA385109552 | NFE2 | c.266C>A (p.Thr89Lys) c.233C>A (p.Thr78Lys) c.-38C>A (n.-38C>A) | |
12 | g.54293231T>A | CA385109553 | NFE2 | c.265A>T (p.Thr89Ser) c.232A>T (p.Thr78Ser) c.-39A>T (n.-39A>T) | |
12 | g.54293231T>C | CA385109554 | NFE2 | c.265A>G (p.Thr89Ala) c.232A>G (p.Thr78Ala) c.-39A>G (n.-39A>G) | |
12 | g.54293231T>G | CA385109555 | NFE2 | c.265A>C (p.Thr89Pro) c.232A>C (p.Thr78Pro) c.-39A>C (n.-39A>C) | |
12 | g.54293232G>A | CA479990357 | NFE2 | c.264C>T (p.Ser88=) c.231C>T (p.Ser77=) c.-40C>T (n.-40C>T) | dbSNP gnomAD v4 |
12 | g.54293232G>C | CA479990355 | NFE2 | c.264C>G (p.Ser88=) c.231C>G (p.Ser77=) c.-40C>G (n.-40C>G) | gnomAD v4 |
12 | g.54293232G= | CA2037367937 | NFE2 | c.264C= (p.Ser88=) c.231C= (p.Ser77=) c.-40C= (n.-40C=) | |
12 | g.54293232G>T | CA479990356 | NFE2 | c.264C>A (p.Ser88=) c.231C>A (p.Ser77=) c.-40C>A (n.-40C>A) | |
12 | g.54293233G>A | CA237415425 | NFE2 | c.263C>T (p.Ser88Phe) c.230C>T (p.Ser77Phe) c.-41C>T (n.-41C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293233G>C | CA385109557 | NFE2 | c.263C>G (p.Ser88Cys) c.230C>G (p.Ser77Cys) c.-41C>G (n.-41C>G) | |
12 | g.54293233G= | CA2037367938 | NFE2 | c.263C= (p.Ser88=) c.230C= (p.Ser77=) c.-41C= (n.-41C=) | |
12 | g.54293233G>T | CA385109556 | NFE2 | c.263C>A (p.Ser88Tyr) c.230C>A (p.Ser77Tyr) c.-41C>A (n.-41C>A) | |
12 | g.54293234A= | CA2037367939 | NFE2 | c.262T= (p.Ser88=) c.229T= (p.Ser77=) c.-42T= (n.-42T=) | |
12 | g.54293234A>C | CA385109558 | NFE2 | c.262T>G (p.Ser88Ala) c.229T>G (p.Ser77Ala) c.-42T>G (n.-42T>G) | gnomAD v4 |
12 | g.54293234A>G | CA385109559 | NFE2 | c.262T>C (p.Ser88Pro) c.229T>C (p.Ser77Pro) c.-42T>C (n.-42T>C) | |
12 | g.54293234A>T | CA237415430 | NFE2 | c.262T>A (p.Ser88Thr) c.229T>A (p.Ser77Thr) c.-42T>A (n.-42T>A) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.54293235T>A | CA6606607 | NFE2 | c.261A>T (p.Ala87=) c.228A>T (p.Ala76=) c.-43A>T (n.-43A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293235T>C | CA479990358 | NFE2 | c.261A>G (p.Ala87=) c.228A>G (p.Ala76=) c.-43A>G (n.-43A>G) | |
12 | g.54293235T>G | CA479990359 | NFE2 | c.261A>C (p.Ala87=) c.228A>C (p.Ala76=) c.-43A>C (n.-43A>C) | |
12 | g.54293235T= | CA2037367940 | NFE2 | c.261A= (p.Ala87=) c.228A= (p.Ala76=) c.-43A= (n.-43A=) | |
12 | g.54293236G>A | CA6606608 | NFE2 | c.260C>T (p.Ala87Val) c.227C>T (p.Ala76Val) c.-44C>T (n.-44C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.54293236G>C | CA385109560 | NFE2 | c.260C>G (p.Ala87Gly) c.227C>G (p.Ala76Gly) c.-44C>G (n.-44C>G) | |
12 | g.54293236G= | CA2037367941 | NFE2 | c.260C= (p.Ala87=) c.227C= (p.Ala76=) c.-44C= (n.-44C=) | |
12 | g.54293236G>T | CA385109561 | NFE2 | c.260C>A (p.Ala87Glu) c.227C>A (p.Ala76Glu) c.-44C>A (n.-44C>A) | |
12 | g.54293237C>A | CA385109562 | NFE2 | c.259G>T (p.Ala87Ser) c.226G>T (p.Ala76Ser) c.-45G>T (n.-45G>T) | |
12 | g.54293237C>G | CA385109563 | NFE2 | c.259G>C (p.Ala87Pro) c.226G>C (p.Ala76Pro) c.-45G>C (n.-45G>C) | |
12 | g.54293237C>T | CA385109564 | NFE2 | c.259G>A (p.Ala87Thr) c.226G>A (p.Ala76Thr) c.-45G>A (n.-45G>A) | |
12 | g.54293237_54293246del | CA2619126673 | NFE2 | c.250_259del (p.Glu84HisfsTer24) c.217_226del (p.Glu73HisfsTer24) c.-54_-45del (n.-54_-45del) | gnomAD v4 |
12 | g.54293238T>A | CA479990360 | NFE2 | c.258A>T (p.Pro86=) c.225A>T (p.Pro75=) c.-46A>T (n.-46A>T) | |
12 | g.54293238T>C | CA479990361 | NFE2 | c.258A>G (p.Pro86=) c.225A>G (p.Pro75=) c.-46A>G (n.-46A>G) | |
12 | g.54293238T>G | CA479990362 | NFE2 | c.258A>C (p.Pro86=) c.225A>C (p.Pro75=) c.-46A>C (n.-46A>C) | |
12 | g.54293239G>A | CA385109565 | NFE2 | c.257C>T (p.Pro86Leu) c.224C>T (p.Pro75Leu) c.-47C>T (n.-47C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293239G>C | CA385109566 | NFE2 | c.257C>G (p.Pro86Arg) c.224C>G (p.Pro75Arg) c.-47C>G (n.-47C>G) | |
12 | g.54293239G= | CA2037367942 | NFE2 | c.257C= (p.Pro86=) c.224C= (p.Pro75=) c.-47C= (n.-47C=) | |
12 | g.54293239G>T | CA385109567 | NFE2 | c.257C>A (p.Pro86Gln) c.224C>A (p.Pro75Gln) c.-47C>A (n.-47C>A) | |
12 | g.54293241del | CA2563405705 | NFE2 | c.257del (p.Pro86GlnfsTer25) c.224del (p.Pro75GlnfsTer25) c.-47del (n.-47del) | |
12 | g.54293240G>A | CA385109570 | NFE2 | c.256C>T (p.Pro86Ser) c.223C>T (p.Pro75Ser) c.-48C>T (n.-48C>T) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.54293240G>C | CA385109568 | NFE2 | c.256C>G (p.Pro86Ala) c.223C>G (p.Pro75Ala) c.-48C>G (n.-48C>G) | |
12 | g.54293240G= | CA2037367943 | NFE2 | c.256C= (p.Pro86=) c.223C= (p.Pro75=) c.-48C= (n.-48C=) | |
12 | g.54293240G>T | CA385109569 | NFE2 | c.256C>A (p.Pro86Thr) c.223C>A (p.Pro75Thr) c.-48C>A (n.-48C>A) | |
12 | g.54293241G>A | CA479990363 | NFE2 | c.255C>T (p.Leu85=) c.222C>T (p.Leu74=) c.-49C>T (n.-49C>T) | gnomAD v4 |
12 | g.54293241G>C | CA479990364 | NFE2 | c.255C>G (p.Leu85=) c.222C>G (p.Leu74=) c.-49C>G (n.-49C>G) | |
12 | g.54293241G>T | CA479990365 | NFE2 | c.255C>A (p.Leu85=) c.222C>A (p.Leu74=) c.-49C>A (n.-49C>A) |