Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.10489766G>A | CA505383463 | KEAP1 | c.1413C>T (p.Leu471=) c.305-398C>T c.232C>T | gnomAD v4 COSMIC |
19 | g.10489766G>C | CA9195479 | KEAP1 | c.1413C>G (p.Leu471=) c.305-398C>G c.232C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489766G= | CA2322454464 | KEAP1 | c.1413C= (p.Leu471=) c.305-398C= c.232C= | |
19 | g.10489766G>T | CA505383464 | KEAP1 | c.1413C>A (p.Leu471=) c.305-398C>A c.232C>A | gnomAD v4 |
19 | g.10489767A>C | CA403986375 | KEAP1 | c.1412T>G (p.Leu471Arg) c.305-399T>G c.231T>G | |
19 | g.10489767A>G | CA403986378 | KEAP1 | c.1412T>C (p.Leu471Pro) c.305-399T>C c.231T>C | |
19 | g.10489767A>T | CA403986381 | KEAP1 | c.1412T>A (p.Leu471His) c.305-399T>A c.231T>A | dbSNP |
19 | g.10489768G>A | CA403986384 | KEAP1 | c.1411C>T (p.Leu471Phe) c.305-400C>T c.230C>T | dbSNP |
19 | g.10489768G>C | CA403986388 | KEAP1 | c.1411C>G (p.Leu471Val) c.305-400C>G c.230C>G | dbSNP |
19 | g.10489768G>T | CA403986391 | KEAP1 | c.1411C>A (p.Leu471Ile) c.305-400C>A c.230C>A | dbSNP |
19 | g.10489768_10489784delinsGACGATTGAGGACAGCC | CA2322454465 | KEAP1 | c.1395_1411delinsGGCTGTCCTCAATCGTC (p.Val465=) c.305-416_305-400delinsGGCTGTCCTCAATCGTC c.214_230delinsGGCTGTCCTCAATCGTC | |
19 | g.10489769A>C | CA505383465 | KEAP1 | c.1410T>G (p.Arg470=) c.305-401T>G c.229T>G | dbSNP |
19 | g.10489769A>G | CA505383466 | KEAP1 | c.1410T>C (p.Arg470=) c.305-401T>C c.229T>C | dbSNP |
19 | g.10489769A>T | CA505383467 | KEAP1 | c.1410T>A (p.Arg470=) c.305-401T>A c.229T>A | dbSNP |
19 | g.10489772_10489787del | CA632056317 | KEAP1 | c.1395_1410del (p.Ala466SerfsTer29) c.305-416_305-401del c.214_229del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489770C>A | CA403986395 | KEAP1 | c.1409G>T (p.Arg470Leu) c.305-402G>T c.228G>T | |
19 | g.10489770C>G | CA403986398 | KEAP1 | c.1409G>C (p.Arg470Pro) c.305-402G>C c.228G>C | dbSNP |
19 | g.10489770C>T | CA403986400 | KEAP1 | c.1409G>A (p.Arg470His) c.305-402G>A c.228G>A | dbSNP COSMIC |
19 | g.10489771G>A | CA403986409 | KEAP1 | c.1408C>T (p.Arg470Cys) c.305-403C>T c.227C>T | dbSNP COSMIC |
19 | g.10489771G>C | CA403986403 | KEAP1 | c.1408C>G (p.Arg470Gly) c.305-403C>G c.227C>G | dbSNP |
19 | g.10489771G>T | CA403986406 | KEAP1 | c.1408C>A (p.Arg470Ser) c.305-403C>A c.227C>A | COSMIC |
19 | g.10489772A>C | CA403986412 | KEAP1 | c.1407T>G (p.Asn469Lys) c.305-404T>G c.226T>G | dbSNP |
19 | g.10489772A>G | CA505383468 | KEAP1 | c.1407T>C (p.Asn469=) c.305-404T>C c.226T>C | dbSNP |
19 | g.10489772A>T | CA403986413 | KEAP1 | c.1407T>A (p.Asn469Lys) c.305-404T>A c.226T>A | dbSNP |
19 | g.10489773T>A | CA403986417 | KEAP1 | c.1406A>T (p.Asn469Ile) c.305-405A>T c.225A>T | dbSNP |
19 | g.10489773T>C | CA305199978 | KEAP1 | c.1406A>G (p.Asn469Ser) c.305-405A>G c.225A>G | dbSNP gnomAD v4 |
19 | g.10489773T>G | CA403986426 | KEAP1 | c.1406A>C (p.Asn469Thr) c.305-405A>C c.225A>C | dbSNP |
19 | g.10489773T= | CA2322454466 | KEAP1 | c.1406A= (p.Asn469=) c.305-405A= c.225A= | |
19 | g.10489774T>A | CA403986430 | KEAP1 | c.1405A>T (p.Asn469Tyr) c.305-406A>T c.224A>T | dbSNP |
19 | g.10489774T>C | CA403986433 | KEAP1 | c.1405A>G (p.Asn469Asp) c.305-406A>G c.224A>G | |
19 | g.10489774T>G | CA403986434 | KEAP1 | c.1405A>C (p.Asn469His) c.305-406A>C c.224A>C | dbSNP gnomAD v4 |
19 | g.10489775G>A | CA505383469 | KEAP1 | c.1404C>T (p.Leu468=) c.305-407C>T c.223C>T | dbSNP gnomAD v4 |
19 | g.10489775G>C | CA505383470 | KEAP1 | c.1404C>G (p.Leu468=) c.305-407C>G c.223C>G | dbSNP |
19 | g.10489775G>T | CA505383471 | KEAP1 | c.1404C>A (p.Leu468=) c.305-407C>A c.223C>A | |
19 | g.10489776A>C | CA403986445 | KEAP1 | c.1403T>G (p.Leu468Arg) c.305-408T>G c.222T>G | |
19 | g.10489776A>G | CA403986447 | KEAP1 | c.1403T>C (p.Leu468Pro) c.305-408T>C c.222T>C | dbSNP |
19 | g.10489776A>T | CA403986448 | KEAP1 | c.1403T>A (p.Leu468His) c.305-408T>A c.222T>A | dbSNP |
19 | g.10489777G>A | CA403986453 | KEAP1 | c.1402C>T (p.Leu468Phe) c.305-409C>T c.221C>T | dbSNP |
19 | g.10489777G>C | CA403986451 | KEAP1 | c.1402C>G (p.Leu468Val) c.305-409C>G c.221C>G | dbSNP gnomAD v2 |
19 | g.10489777G= | CA2322454467 | KEAP1 | c.1402C= (p.Leu468=) c.305-409C= c.221C= | |
19 | g.10489777G>T | CA403986449 | KEAP1 | c.1402C>A (p.Leu468Ile) c.305-409C>A c.221C>A | dbSNP |
19 | g.10489778G>A | CA505383472 | KEAP1 | c.1401C>T (p.Val467=) c.305-410C>T c.220C>T | dbSNP gnomAD v4 |
19 | g.10489778G>C | CA505383473 | KEAP1 | c.1401C>G (p.Val467=) c.305-410C>G c.220C>G | dbSNP |
19 | g.10489778G= | CA2322454468 | KEAP1 | c.1401C= (p.Val467=) c.305-410C= c.220C= | |
19 | g.10489778G>T | CA505383474 | KEAP1 | c.1401C>A (p.Val467=) c.305-410C>A c.220C>A | |
19 | g.10489779A= | CA2322454469 | KEAP1 | c.1400T= (p.Val467=) c.305-411T= c.219T= | |
19 | g.10489779A>C | CA403986456 | KEAP1 | c.1400T>G (p.Val467Gly) c.305-411T>G c.219T>G | dbSNP |
19 | g.10489779A>G | CA403986459 | KEAP1 | c.1400T>C (p.Val467Ala) c.305-411T>C c.219T>C | dbSNP gnomAD v4 |
19 | g.10489779A>T | CA403986462 | KEAP1 | c.1400T>A (p.Val467Asp) c.305-411T>A c.219T>A | dbSNP |
19 | g.10489780C>A | CA403986466 | KEAP1 | c.1399G>T (p.Val467Phe) c.305-412G>T c.218G>T | dbSNP |
19 | g.10489780C= | CA2322454470 | KEAP1 | c.1399G= (p.Val467=) c.305-412G= c.218G= | |
19 | g.10489780C>G | CA403986471 | KEAP1 | c.1399G>C (p.Val467Leu) c.305-412G>C c.218G>C | dbSNP |
19 | g.10489780C>T | CA403986474 | KEAP1 | c.1399G>A (p.Val467Ile) c.305-412G>A c.218G>A | dbSNP |
19 | g.10489781A= | CA2322454471 | KEAP1 | c.1398T= (p.Ala466=) c.305-413T= c.217T= | |
19 | g.10489781A>C | CA505383475 | KEAP1 | c.1398T>G (p.Ala466=) c.305-413T>G c.217T>G | |
19 | g.10489781A>G | CA505383477 | KEAP1 | c.1398T>C (p.Ala466=) c.305-413T>C c.217T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489781A>T | CA505383476 | KEAP1 | c.1398T>A (p.Ala466=) c.305-413T>A c.217T>A | dbSNP |
19 | g.10489782G>A | CA403986481 | KEAP1 | c.1397C>T (p.Ala466Val) c.305-414C>T c.216C>T | dbSNP |
19 | g.10489782G>C | CA403986480 | KEAP1 | c.1397C>G (p.Ala466Gly) c.305-414C>G c.216C>G | |
19 | g.10489782G>T | CA403986479 | KEAP1 | c.1397C>A (p.Ala466Asp) c.305-414C>A c.216C>A | |
19 | g.10489783C>A | CA403986482 | KEAP1 | c.1396G>T (p.Ala466Ser) c.305-415G>T c.215G>T | dbSNP |
19 | g.10489783C>G | CA403986483 | KEAP1 | c.1396G>C (p.Ala466Pro) c.305-415G>C c.215G>C | dbSNP COSMIC |
19 | g.10489783C>T | CA403986485 | KEAP1 | c.1396G>A (p.Ala466Thr) c.305-415G>A c.215G>A | dbSNP gnomAD v4 |
19 | g.10489784C>A | CA505383478 | KEAP1 | c.1395G>T (p.Val465=) c.305-416G>T c.214G>T | dbSNP |
19 | g.10489784C>G | CA505383479 | KEAP1 | c.1395G>C (p.Val465=) c.305-416G>C c.214G>C | dbSNP |
19 | g.10489784C>T | CA505383480 | KEAP1 | c.1395G>A (p.Val465=) c.305-416G>A c.214G>A | dbSNP |
19 | g.10489785A>C | CA403986487 | KEAP1 | c.1394T>G (p.Val465Gly) c.305-417T>G c.213T>G | dbSNP |
19 | g.10489785A>G | CA403986489 | KEAP1 | c.1394T>C (p.Val465Ala) c.305-417T>C c.213T>C | dbSNP |
19 | g.10489785A>T | CA403986491 | KEAP1 | c.1394T>A (p.Val465Glu) c.305-417T>A c.213T>A | dbSNP |
19 | g.10489786C>A | CA403986495 | KEAP1 | c.1393G>T (p.Val465Leu) c.305-418G>T c.212G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489786C= | CA2322454472 | KEAP1 | c.1393G= (p.Val465=) c.305-418G= c.212G= | |
19 | g.10489786C>G | CA403986501 | KEAP1 | c.1393G>C (p.Val465Leu) c.305-418G>C c.212G>C | dbSNP |
19 | g.10489786C>T | CA403986498 | KEAP1 | c.1393G>A (p.Val465Met) c.305-418G>A c.212G>A | dbSNP gnomAD v4 |
19 | g.10489787G>A | CA9195480 | KEAP1 | c.1392C>T (p.Gly464=) c.305-419C>T c.211C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.10489787G>C | CA505383482 | KEAP1 | c.1392C>G (p.Gly464=) c.305-419C>G c.211C>G | |
19 | g.10489787G= | CA2322454473 | KEAP1 | c.1392C= (p.Gly464=) c.305-419C= c.211C= | |
19 | g.10489787G>T | CA505383481 | KEAP1 | c.1392C>A (p.Gly464=) c.305-419C>A c.211C>A | |
19 | g.10489788C>A | CA403986517 | KEAP1 | c.1391G>T (p.Gly464Val) c.305-420G>T c.210G>T | dbSNP |
19 | g.10489788C>G | CA403986519 | KEAP1 | c.1391G>C (p.Gly464Ala) c.305-420G>C c.210G>C | dbSNP |
19 | g.10489788C>T | CA403986522 | KEAP1 | c.1391G>A (p.Gly464Asp) c.305-420G>A c.210G>A | dbSNP gnomAD v4 |
19 | g.10489790del | CA2735432895 | KEAP1 | c.1391del (p.Gly464AlafsTer?) c.305-420del c.210del | dbSNP |
19 | g.10489789C>A | CA403986525 | KEAP1 | c.1390G>T (p.Gly464Cys) c.305-421G>T c.209G>T | dbSNP |
19 | g.10489789C>G | CA403986527 | KEAP1 | c.1390G>C (p.Gly464Arg) c.305-421G>C c.209G>C | dbSNP |
19 | g.10489789C>T | CA403986530 | KEAP1 | c.1390G>A (p.Gly464Ser) c.305-421G>A c.209G>A | dbSNP |
19 | g.10489790C>A | CA9195481 | KEAP1 | c.1389G>T (p.Val463=) c.305-422G>T c.208G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489790C= | CA2322454474 | KEAP1 | c.1389G= (p.Val463=) c.305-422G= c.208G= | |
19 | g.10489790C>G | CA505383483 | KEAP1 | c.1389G>C (p.Val463=) c.305-422G>C c.208G>C | dbSNP |
19 | g.10489790C>T | CA9195482 | KEAP1 | c.1389G>A (p.Val463=) c.305-422G>A c.208G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489791A>C | CA403986538 | KEAP1 | c.1388T>G (p.Val463Gly) c.305-423T>G c.207T>G | |
19 | g.10489791A>G | CA403986540 | KEAP1 | c.1388T>C (p.Val463Ala) c.305-423T>C c.207T>C | |
19 | g.10489791A>T | CA403986543 | KEAP1 | c.1388T>A (p.Val463Glu) c.305-423T>A c.207T>A | dbSNP |
19 | g.10489792C>A | CA403986549 | KEAP1 | c.1387G>T (p.Val463Leu) c.305-424G>T c.206G>T | gnomAD v4 |
19 | g.10489792C= | CA2322454475 | KEAP1 | c.1387G= (p.Val463=) c.305-424G= c.206G= | |
19 | g.10489792C>G | CA403986554 | KEAP1 | c.1387G>C (p.Val463Leu) c.305-424G>C c.206G>C | dbSNP |
19 | g.10489792C>T | CA403986552 | KEAP1 | c.1387G>A (p.Val463Met) c.305-424G>A c.206G>A | dbSNP gnomAD v2 |
19 | g.10489793C>A | CA505383484 | KEAP1 | c.1386G>T (p.Gly462=) c.305-425G>T c.205G>T | dbSNP |
19 | g.10489793C>G | CA505383485 | KEAP1 | c.1386G>C (p.Gly462=) c.305-425G>C c.205G>C | dbSNP |
19 | g.10489793C>T | CA505383486 | KEAP1 | c.1386G>A (p.Gly462=) c.305-425G>A c.205G>A | dbSNP |
19 | g.10489794C>A | CA403986558 | KEAP1 | c.1385G>T (p.Gly462Val) c.305-426G>T c.204G>T | dbSNP |
19 | g.10489794C= | CA2322454476 | KEAP1 | c.1385G= (p.Gly462=) c.305-426G= c.204G= | |
19 | g.10489794C>G | CA403986561 | KEAP1 | c.1385G>C (p.Gly462Ala) c.305-426G>C c.204G>C | dbSNP |
19 | g.10489794C>T | CA403986562 | KEAP1 | c.1385G>A (p.Gly462Glu) c.305-426G>A c.204G>A | dbSNP |
19 | g.10489795C>A | CA403986564 | KEAP1 | c.1384G>T (p.Gly462Trp) c.305-427G>T c.203G>T | dbSNP |
19 | g.10489795C>G | CA403986567 | KEAP1 | c.1384G>C (p.Gly462Arg) c.305-427G>C c.203G>C | dbSNP |
19 | g.10489795C>T | CA403986570 | KEAP1 | c.1384G>A (p.Gly462Arg) c.305-427G>A c.203G>A | dbSNP gnomAD v4 |
19 | g.10489796del | CA2582389804 | KEAP1 | c.1383del (p.Ile461MetfsTer?) c.305-428del c.202del | gnomAD v4 |
19 | g.10489796G>A | CA9195483 | KEAP1 | c.1383C>T (p.Ile461=) c.305-428C>T c.202C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489796G>C | CA403986573 | KEAP1 | c.1383C>G (p.Ile461Met) c.305-428C>G c.202C>G | dbSNP |
19 | g.10489796G= | CA2322454477 | KEAP1 | c.1383C= (p.Ile461=) c.305-428C= c.202C= | |
19 | g.10489796G>T | CA505383487 | KEAP1 | c.1383C>A (p.Ile461=) c.305-428C>A c.202C>A | |
19 | g.10489797A>C | CA403986576 | KEAP1 | c.1382T>G (p.Ile461Ser) c.305-429T>G c.201T>G | dbSNP |
19 | g.10489797A>G | CA403986577 | KEAP1 | c.1382T>C (p.Ile461Thr) c.305-429T>C c.201T>C | dbSNP |
19 | g.10489797A>T | CA403986578 | KEAP1 | c.1382T>A (p.Ile461Asn) c.305-429T>A c.201T>A | dbSNP |
19 | g.10489798T>A | CA403986583 | KEAP1 | c.1381A>T (p.Ile461Phe) c.305-430A>T c.200A>T | dbSNP |
19 | g.10489798T>C | CA403986581 | KEAP1 | c.1381A>G (p.Ile461Val) c.305-430A>G c.200A>G | COSMIC |
19 | g.10489798T>G | CA403986579 | KEAP1 | c.1381A>C (p.Ile461Leu) c.305-430A>C c.200A>C | dbSNP |
19 | g.10489799C>A | CA403986587 | KEAP1 | c.1380G>T (p.Arg460Ser) c.305-431G>T c.199G>T | dbSNP COSMIC |
19 | g.10489799C>G | CA403986590 | KEAP1 | c.1380G>C (p.Arg460Ser) c.305-431G>C c.199G>C | dbSNP |
19 | g.10489799C>T | CA505383488 | KEAP1 | c.1380G>A (p.Arg460=) c.305-431G>A c.199G>A | dbSNP |
19 | g.10489800C>A | CA403986596 | KEAP1 | c.1379G>T (p.Arg460Met) c.305-432G>T c.198G>T | dbSNP COSMIC |
19 | g.10489800C>G | CA403986598 | KEAP1 | c.1379G>C (p.Arg460Thr) c.305-432G>C c.198G>C | dbSNP |
19 | g.10489800C>T | CA403986601 | KEAP1 | c.1379G>A (p.Arg460Lys) c.305-432G>A c.198G>A | dbSNP |
19 | g.10489801T>A | CA403986606 | KEAP1 | c.1378A>T (p.Arg460Trp) c.305-433A>T c.197A>T | dbSNP |
19 | g.10489801T>C | CA403986608 | KEAP1 | c.1378A>G (p.Arg460Gly) c.305-433A>G c.197A>G | dbSNP COSMIC |
19 | g.10489801T>G | CA505383489 | KEAP1 | c.1378A>C (p.Arg460=) c.305-433A>C c.197A>C | |
19 | g.10489802T>A | CA505383490 | KEAP1 | c.1377A>T (p.Arg459=) c.305-434A>T c.196A>T | dbSNP |
19 | g.10489802T>C | CA505383492 | KEAP1 | c.1377A>G (p.Arg459=) c.305-434A>G c.196A>G | dbSNP |
19 | g.10489802T>G | CA505383491 | KEAP1 | c.1377A>C (p.Arg459=) c.305-434A>C c.196A>C | |
19 | g.10489803C>A | CA403986612 | KEAP1 | c.1376G>T (p.Arg459Leu) c.305-435G>T c.195G>T | dbSNP |
19 | g.10489803C= | CA2322454478 | KEAP1 | c.1376G= (p.Arg459=) c.305-435G= c.195G= | |
19 | g.10489803C>G | CA403986614 | KEAP1 | c.1376G>C (p.Arg459Pro) c.305-435G>C c.195G>C | dbSNP |
19 | g.10489803C>T | CA9195484 | KEAP1 | c.1376G>A (p.Arg459Gln) c.305-435G>A c.195G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.10489804G>A | CA9195485 | KEAP1 | c.1375C>T (p.Arg459Ter) c.305-436C>T c.194C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489804G>C | CA403986625 | KEAP1 | c.1375C>G (p.Arg459Gly) c.305-436C>G c.194C>G | dbSNP |
19 | g.10489804G= | CA2322454479 | KEAP1 | c.1375C= (p.Arg459=) c.305-436C= c.194C= | |
19 | g.10489804G>T | CA505383493 | KEAP1 | c.1375C>A (p.Arg459=) c.305-436C>A c.194C>A | dbSNP |
19 | g.10489805T>A | CA505383494 | KEAP1 | c.1374A>T (p.Thr458=) c.305-437A>T c.193A>T | dbSNP |
19 | g.10489805T>C | CA505383495 | KEAP1 | c.1374A>G (p.Thr458=) c.305-437A>G c.193A>G | dbSNP |
19 | g.10489805T>G | CA505383496 | KEAP1 | c.1374A>C (p.Thr458=) c.305-437A>C c.193A>C | |
19 | g.10489806G>A | CA403986632 | KEAP1 | c.1373C>T (p.Thr458Ile) c.305-438C>T c.192C>T | dbSNP |
19 | g.10489806G>C | CA403986631 | KEAP1 | c.1373C>G (p.Thr458Arg) c.305-438C>G c.192C>G | dbSNP gnomAD v4 |
19 | g.10489806G>T | CA403986630 | KEAP1 | c.1373C>A (p.Thr458Lys) c.305-438C>A c.192C>A | gnomAD v4 |
19 | g.10489807T>A | CA403986633 | KEAP1 | c.1372A>T (p.Thr458Ser) c.305-439A>T c.191A>T | dbSNP |
19 | g.10489807T>C | CA403986636 | KEAP1 | c.1372A>G (p.Thr458Ala) c.305-439A>G c.191A>G | dbSNP |
19 | g.10489807T>G | CA403986634 | KEAP1 | c.1372A>C (p.Thr458Pro) c.305-439A>C c.191A>C | dbSNP |
19 | g.10489808C>A | CA505383497 | KEAP1 | c.1371G>T (p.Leu457=) c.305-440G>T c.190G>T | dbSNP |
19 | g.10489808C>G | CA505383499 | KEAP1 | c.1371G>C (p.Leu457=) c.305-440G>C c.190G>C | dbSNP |
19 | g.10489808C>T | CA505383498 | KEAP1 | c.1371G>A (p.Leu457=) c.305-440G>A c.190G>A | dbSNP |
19 | g.10489809A>C | CA403986640 | KEAP1 | c.1370T>G (p.Leu457Arg) c.305-441T>G c.189T>G | |
19 | g.10489809A>G | CA403986643 | KEAP1 | c.1370T>C (p.Leu457Pro) c.305-441T>C c.189T>C | dbSNP |
19 | g.10489809A>T | CA403986646 | KEAP1 | c.1370T>A (p.Leu457Gln) c.305-441T>A c.189T>A | dbSNP |
19 | g.10489810del | CA645614349 | KEAP1 | c.1369del (p.Leu457Ter) c.305-442del c.188del | COSMIC |
19 | g.10489810G>A | CA505383500 | KEAP1 | c.1369C>T (p.Leu457=) c.305-442C>T c.188C>T | dbSNP gnomAD v4 |
19 | g.10489810G>C | CA403986647 | KEAP1 | c.1369C>G (p.Leu457Val) c.305-442C>G c.188C>G | dbSNP |
19 | g.10489810G= | CA2322454480 | KEAP1 | c.1369C= (p.Leu457=) c.305-442C= c.188C= | |
19 | g.10489810G>T | CA403986648 | KEAP1 | c.1369C>A (p.Leu457Met) c.305-442C>A c.188C>A | |
19 | g.10489811C>A | CA403986651 | KEAP1 | c.1368G>T (p.Met456Ile) c.305-443G>T c.187G>T | |
19 | g.10489811C>G | CA403986650 | KEAP1 | c.1368G>C (p.Met456Ile) c.305-443G>C c.187G>C | |
19 | g.10489811C>T | CA403986649 | KEAP1 | c.1368G>A (p.Met456Ile) c.305-443G>A c.187G>A | gnomAD v4 |
19 | g.10489812A>C | CA403986654 | KEAP1 | c.1367T>G (p.Met456Arg) c.305-444T>G c.186T>G | dbSNP |
19 | g.10489812A>G | CA403986657 | KEAP1 | c.1367T>C (p.Met456Thr) c.305-444T>C c.186T>C | dbSNP |
19 | g.10489812A>T | CA403986658 | KEAP1 | c.1367T>A (p.Met456Lys) c.305-444T>A c.186T>A | dbSNP |
19 | g.10489813T>A | CA403986660 | KEAP1 | c.1366A>T (p.Met456Leu) c.305-445A>T c.185A>T | dbSNP gnomAD v4 |
19 | g.10489813T>C | CA9195486 | KEAP1 | c.1366A>G (p.Met456Val) c.305-445A>G c.185A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489813T>G | CA403986662 | KEAP1 | c.1366A>C (p.Met456Leu) c.305-445A>C c.185A>C | |
19 | g.10489813T= | CA2322454481 | KEAP1 | c.1366A= (p.Met456=) c.305-445A= c.185A= | |
19 | g.10489814T>A | CA505383501 | KEAP1 | c.1365A>T (p.Pro455=) c.305-446A>T c.184A>T | |
19 | g.10489814T>C | CA505383502 | KEAP1 | c.1365A>G (p.Pro455=) c.305-446A>G c.184A>G | |
19 | g.10489814T>G | CA505383503 | KEAP1 | c.1365A>C (p.Pro455=) c.305-446A>C c.184A>C | |
19 | g.10489815G>A | CA403986669 | KEAP1 | c.1364C>T (p.Pro455Leu) c.305-447C>T c.183C>T | dbSNP |
19 | g.10489815G>C | CA403986665 | KEAP1 | c.1364C>G (p.Pro455Arg) c.305-447C>G c.183C>G | dbSNP |
19 | g.10489815G>T | CA403986667 | KEAP1 | c.1364C>A (p.Pro455Gln) c.305-447C>A c.183C>A | dbSNP |
19 | g.10489816G>A | CA403986674 | KEAP1 | c.1363C>T (p.Pro455Ser) c.305-448C>T c.182C>T | dbSNP |
19 | g.10489816G>C | CA403986676 | KEAP1 | c.1363C>G (p.Pro455Ala) c.305-448C>G c.182C>G | dbSNP |
19 | g.10489816G>T | CA403986679 | KEAP1 | c.1363C>A (p.Pro455Thr) c.305-448C>A c.182C>A | dbSNP |
19 | g.10489817G>A | CA505383506 | KEAP1 | c.1362C>T (p.Ala454=) c.305-449C>T c.181C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489817G>C | CA505383504 | KEAP1 | c.1362C>G (p.Ala454=) c.305-449C>G c.181C>G | dbSNP |
19 | g.10489817G= | CA2322454482 | KEAP1 | c.1362C= (p.Ala454=) c.305-449C= c.181C= | |
19 | g.10489817G>T | CA505383505 | KEAP1 | c.1362C>A (p.Ala454=) c.305-449C>A c.181C>A | dbSNP |
19 | g.10489818G>A | CA403986680 | KEAP1 | c.1361C>T (p.Ala454Val) c.305-450C>T c.180C>T | dbSNP |
19 | g.10489818G>C | CA403986684 | KEAP1 | c.1361C>G (p.Ala454Gly) c.305-450C>G c.180C>G | gnomAD v4 |
19 | g.10489818G= | CA2322454483 | KEAP1 | c.1361C= (p.Ala454=) c.305-450C= c.180C= | |
19 | g.10489818G>T | CA403986685 | KEAP1 | c.1361C>A (p.Ala454Asp) c.305-450C>A c.180C>A | dbSNP |
19 | g.10489819C>A | CA403986690 | KEAP1 | c.1360G>T (p.Ala454Ser) c.305-451G>T c.179G>T | dbSNP |
19 | g.10489819C= | CA2322454484 | KEAP1 | c.1360G= (p.Ala454=) c.305-451G= c.179G= | |
19 | g.10489819C>G | CA403986693 | KEAP1 | c.1360G>C (p.Ala454Pro) c.305-451G>C c.179G>C | dbSNP |
19 | g.10489819C>T | CA403986696 | KEAP1 | c.1360G>A (p.Ala454Thr) c.305-451G>A c.179G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489820C>A | CA505383507 | KEAP1 | c.1359G>T (p.Val453=) c.305-452G>T c.178G>T | |
19 | g.10489820C= | CA2322454485 | KEAP1 | c.1359G= (p.Val453=) c.305-452G= c.178G= | |
19 | g.10489820C>G | CA505383508 | KEAP1 | c.1359G>C (p.Val453=) c.305-452G>C c.178G>C | dbSNP |
19 | g.10489820C>T | CA9195487 | KEAP1 | c.1359G>A (p.Val453=) c.305-452G>A c.178G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489821A>C | CA403986702 | KEAP1 | c.1358T>G (p.Val453Gly) c.305-453T>G c.177T>G | dbSNP |
19 | g.10489821A>G | CA403986706 | KEAP1 | c.1358T>C (p.Val453Ala) c.305-453T>C c.177T>C | |
19 | g.10489821A>T | CA403986708 | KEAP1 | c.1358T>A (p.Val453Glu) c.305-453T>A c.177T>A | dbSNP |
19 | g.10489822C>A | CA403986718 | KEAP1 | c.1357G>T (p.Val453Leu) c.305-454G>T c.176G>T | dbSNP |
19 | g.10489822C>G | CA403986712 | KEAP1 | c.1357G>C (p.Val453Leu) c.305-454G>C c.176G>C | dbSNP |
19 | g.10489822C>T | CA403986715 | KEAP1 | c.1357G>A (p.Val453Met) c.305-454G>A c.176G>A | dbSNP |
19 | g.10489823C>A | CA403986721 | KEAP1 | c.1356G>T (p.Leu452Phe) c.305-455G>T c.175G>T | dbSNP |
19 | g.10489823C>G | CA403986722 | KEAP1 | c.1356G>C (p.Leu452Phe) c.305-455G>C c.175G>C | dbSNP |
19 | g.10489823C>T | CA505383509 | KEAP1 | c.1356G>A (p.Leu452=) c.305-455G>A c.175G>A | dbSNP |
19 | g.10489824A= | CA2322454486 | KEAP1 | c.1355T= (p.Leu452=) c.305-456T= c.174T= | |
19 | g.10489824A>C | CA403986726 | KEAP1 | c.1355T>G (p.Leu452Trp) c.305-456T>G c.174T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10489824A>G | CA403986728 | KEAP1 | c.1355T>C (p.Leu452Ser) c.305-456T>C c.174T>C | dbSNP gnomAD v2 |
19 | g.10489824A>T | CA403986731 | KEAP1 | c.1355T>A (p.Leu452Ter) c.305-456T>A c.174T>A | |
19 | g.10489825dup | CA505383510 | KEAP1 | c.1355dup (p.Leu452PhefsTer28) c.305-456dup c.174dup | |
19 | g.10489825A>C | CA403986733 | KEAP1 | c.1354T>G (p.Leu452Val) c.305-457T>G c.173T>G | |
19 | g.10489825A>G | CA505383511 | KEAP1 | c.1354T>C (p.Leu452=) c.305-457T>C c.173T>C | |
19 | g.10489825A>T | CA403986736 | KEAP1 | c.1354T>A (p.Leu452Met) c.305-457T>A c.173T>A | dbSNP |
19 | g.10489826del | CA505383513 | KEAP1 | c.1353del (p.Leu452TrpfsTer6) c.305-458del c.172del | COSMIC |
19 | g.10489826G>A | CA505383512 | KEAP1 | c.1353C>T (p.His451=) c.305-458C>T c.172C>T | dbSNP gnomAD v4 |
19 | g.10489826G>C | CA403986743 | KEAP1 | c.1353C>G (p.His451Gln) c.305-458C>G c.172C>G | dbSNP gnomAD v4 |
19 | g.10489826G>T | CA403986741 | KEAP1 | c.1353C>A (p.His451Gln) c.305-458C>A c.172C>A | dbSNP |
19 | g.10489827T>A | CA403986747 | KEAP1 | c.1352A>T (p.His451Leu) c.305-459A>T c.171A>T | dbSNP |
19 | g.10489827T>C | CA403986750 | KEAP1 | c.1352A>G (p.His451Arg) c.305-459A>G c.171A>G | |
19 | g.10489827T>G | CA403986752 | KEAP1 | c.1352A>C (p.His451Pro) c.305-459A>C c.171A>C | |
19 | g.10489828G>A | CA403986758 | KEAP1 | c.1351C>T (p.His451Tyr) c.305-460C>T c.170C>T | |
19 | g.10489828G>C | CA403986760 | KEAP1 | c.1351C>G (p.His451Asp) c.305-460C>G c.170C>G | dbSNP |
19 | g.10489828G>T | CA403986762 | KEAP1 | c.1351C>A (p.His451Asn) c.305-460C>A c.170C>A | |
19 | g.10489829C>A | CA403986765 | KEAP1 | c.1350G>T (p.Trp450Cys) c.305-461G>T c.169G>T | dbSNP gnomAD v4 |
19 | g.10489829C>G | CA403986771 | KEAP1 | c.1350G>C (p.Trp450Cys) c.305-461G>C c.169G>C | dbSNP |
19 | g.10489829C>T | CA403986768 | KEAP1 | c.1350G>A (p.Trp450Ter) c.305-461G>A c.169G>A | dbSNP |
19 | g.10489830C>A | CA403986775 | KEAP1 | c.1349G>T (p.Trp450Leu) c.305-462G>T c.168G>T | |
19 | g.10489830C>G | CA403986778 | KEAP1 | c.1349G>C (p.Trp450Ser) c.305-462G>C c.168G>C | dbSNP |
19 | g.10489830C>T | CA403986781 | KEAP1 | c.1349G>A (p.Trp450Ter) c.305-462G>A c.168G>A | dbSNP |
19 | g.10489831A>C | CA403986784 | KEAP1 | c.1348T>G (p.Trp450Gly) c.305-463T>G c.167T>G | dbSNP |
19 | g.10489831A>G | CA403986787 | KEAP1 | c.1348T>C (p.Trp450Arg) c.305-463T>C c.167T>C | dbSNP |
19 | g.10489831A>T | CA403986789 | KEAP1 | c.1348T>A (p.Trp450Arg) c.305-463T>A c.167T>A | dbSNP |
19 | g.10489832C>A | CA403986792 | KEAP1 | c.1347G>T (p.Glu449Asp) c.305-464G>T c.166G>T | |
19 | g.10489832C= | CA2322454487 | KEAP1 | c.1347G= (p.Glu449=) c.305-464G= c.166G= | |
19 | g.10489832C>G | CA403986794 | KEAP1 | c.1347G>C (p.Glu449Asp) c.305-464G>C c.166G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10489832C>T | CA505383514 | KEAP1 | c.1347G>A (p.Glu449=) c.305-464G>A c.166G>A | dbSNP |
19 | g.10489833T>A | CA403986796 | KEAP1 | c.1346A>T (p.Glu449Val) c.305-465A>T c.165A>T | |
19 | g.10489833T>C | CA403986798 | KEAP1 | c.1346A>G (p.Glu449Gly) c.305-465A>G c.165A>G | |
19 | g.10489833T>G | CA403986800 | KEAP1 | c.1346A>C (p.Glu449Ala) c.305-465A>C c.165A>C | |
19 | g.10489834C>A | CA403986802 | KEAP1 | c.1345G>T (p.Glu449Ter) c.305-466G>T c.164G>T | dbSNP COSMIC |
19 | g.10489834C>G | CA403986807 | KEAP1 | c.1345G>C (p.Glu449Gln) c.305-466G>C c.164G>C | dbSNP |
19 | g.10489834C>T | CA403986805 | KEAP1 | c.1345G>A (p.Glu449Lys) c.305-466G>A c.164G>A | dbSNP |
19 | g.10489835A>C | CA403986812 | KEAP1 | c.1344T>G (p.Asp448Glu) c.305-467T>G c.163T>G | dbSNP |
19 | g.10489835A>G | CA505383515 | KEAP1 | c.1344T>C (p.Asp448=) c.305-467T>C c.163T>C | dbSNP |
19 | g.10489835A>T | CA403986815 | KEAP1 | c.1344T>A (p.Asp448Glu) c.305-467T>A c.163T>A | dbSNP |
19 | g.10489836T>A | CA403986821 | KEAP1 | c.1343A>T (p.Asp448Val) c.305-468A>T c.162A>T | gnomAD v4 |
19 | g.10489836T>C | CA403986823 | KEAP1 | c.1343A>G (p.Asp448Gly) c.305-468A>G c.162A>G | |
19 | g.10489836T>G | CA403986824 | KEAP1 | c.1343A>C (p.Asp448Ala) c.305-468A>C c.162A>C | |
19 | g.10489837C>A | CA403986828 | KEAP1 | c.1342G>T (p.Asp448Tyr) c.305-469G>T c.161G>T | dbSNP |
19 | g.10489837C>G | CA403986831 | KEAP1 | c.1342G>C (p.Asp448His) c.305-469G>C c.161G>C | dbSNP |
19 | g.10489837C>T | CA403986834 | KEAP1 | c.1342G>A (p.Asp448Asn) c.305-469G>A c.161G>A | |
19 | g.10489838C>A | CA505383516 | KEAP1 | c.1341G>T (p.Arg447=) c.305-470G>T c.160G>T | dbSNP |
19 | g.10489838C= | CA2322454488 | KEAP1 | c.1341G= (p.Arg447=) c.305-470G= c.160G= | |
19 | g.10489838C>G | CA505383517 | KEAP1 | c.1341G>C (p.Arg447=) c.305-470G>C c.160G>C | dbSNP |
19 | g.10489838C>T | CA505383518 | KEAP1 | c.1341G>A (p.Arg447=) c.305-470G>A c.160G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489839C>A | CA403986837 | KEAP1 | c.1340G>T (p.Arg447Leu) c.305-471G>T c.159G>T | dbSNP |
19 | g.10489839C= | CA2322454489 | KEAP1 | c.1340G= (p.Arg447=) c.305-471G= c.159G= | |
19 | g.10489839C>G | CA403986840 | KEAP1 | c.1340G>C (p.Arg447Pro) c.305-471G>C c.159G>C | dbSNP |
19 | g.10489839C>T | CA9195488 | KEAP1 | c.1340G>A (p.Arg447Gln) c.305-471G>A c.159G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489840G>A | CA403986845 | KEAP1 | c.1339C>T (p.Arg447Trp) c.305-472C>T c.158C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489840G>C | CA403986847 | KEAP1 | c.1339C>G (p.Arg447Gly) c.305-472C>G c.158C>G | dbSNP |
19 | g.10489840G= | CA2322454490 | KEAP1 | c.1339C= (p.Arg447=) c.305-472C= c.158C= | |
19 | g.10489840G>T | CA505383519 | KEAP1 | c.1339C>A (p.Arg447=) c.305-472C>A c.158C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10489841C>A | CA403986851 | KEAP1 | c.1338G>T (p.Glu446Asp) c.305-473G>T c.157G>T | dbSNP |
19 | g.10489841C>G | CA403986853 | KEAP1 | c.1338G>C (p.Glu446Asp) c.305-473G>C c.157G>C | dbSNP |
19 | g.10489841C>T | CA505383520 | KEAP1 | c.1338G>A (p.Glu446=) c.305-473G>A c.157G>A | dbSNP |
19 | g.10489842T>A | CA403986863 | KEAP1 | c.1337A>T (p.Glu446Val) c.305-474A>T c.156A>T | |
19 | g.10489842T>C | CA403986856 | KEAP1 | c.1337A>G (p.Glu446Gly) c.305-474A>G c.156A>G | dbSNP |
19 | g.10489842T>G | CA403986860 | KEAP1 | c.1337A>C (p.Glu446Ala) c.305-474A>C c.156A>C | |
19 | g.10489843C>A | CA403986866 | KEAP1 | c.1336G>T (p.Glu446Ter) c.305-475G>T c.155G>T | |
19 | g.10489843C>G | CA403986869 | KEAP1 | c.1336G>C (p.Glu446Gln) c.305-475G>C c.155G>C | dbSNP |
19 | g.10489843C>T | CA403986872 | KEAP1 | c.1336G>A (p.Glu446Lys) c.305-475G>A c.155G>A | dbSNP |
19 | g.10489844T>A | CA505383521 | KEAP1 | c.1335A>T (p.Pro445=) c.305-476A>T c.154A>T | dbSNP |
19 | g.10489844T>C | CA505383523 | KEAP1 | c.1335A>G (p.Pro445=) c.305-476A>G c.154A>G | dbSNP |
19 | g.10489844T>G | CA505383522 | KEAP1 | c.1335A>C (p.Pro445=) c.305-476A>C c.154A>C | |
19 | g.10489845G>A | CA403986875 | KEAP1 | c.1334C>T (p.Pro445Leu) c.305-477C>T c.153C>T | |
19 | g.10489845G>C | CA403986878 | KEAP1 | c.1334C>G (p.Pro445Arg) c.305-477C>G c.153C>G | |
19 | g.10489845G>T | CA403986880 | KEAP1 | c.1334C>A (p.Pro445Gln) c.305-477C>A c.153C>A | |
19 | g.10489846G>A | CA403986885 | KEAP1 | c.1333C>T (p.Pro445Ser) c.305-478C>T c.152C>T | dbSNP |
19 | g.10489846G>C | CA403986888 | KEAP1 | c.1333C>G (p.Pro445Ala) c.305-478C>G c.152C>G | dbSNP |
19 | g.10489846G>T | CA403986889 | KEAP1 | c.1333C>A (p.Pro445Thr) c.305-478C>A c.152C>A | dbSNP |
19 | g.10489847C>A | CA403986892 | KEAP1 | c.1332G>T (p.Glu444Asp) c.305-479G>T c.151G>T | dbSNP |
19 | g.10489847C>G | CA403986894 | KEAP1 | c.1332G>C (p.Glu444Asp) c.305-479G>C c.151G>C | dbSNP |
19 | g.10489847C>T | CA505383524 | KEAP1 | c.1332G>A (p.Glu444=) c.305-479G>A c.151G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.10489848T>A | CA403986913 | KEAP1 | c.1331A>T (p.Glu444Val) c.305-480A>T c.150A>T | dbSNP |
19 | g.10489848T>C | CA403986903 | KEAP1 | c.1331A>G (p.Glu444Gly) c.305-480A>G c.150A>G | dbSNP |
19 | g.10489848T>G | CA403986900 | KEAP1 | c.1331A>C (p.Glu444Ala) c.305-480A>C c.150A>C | |
19 | g.10489849C>A | CA403986918 | KEAP1 | c.1330G>T (p.Glu444Ter) c.305-481G>T c.149G>T | dbSNP COSMIC |
19 | g.10489849C>G | CA403986919 | KEAP1 | c.1330G>C (p.Glu444Gln) c.305-481G>C c.149G>C | dbSNP |
19 | g.10489849C>T | CA403986923 | KEAP1 | c.1330G>A (p.Glu444Lys) c.305-481G>A c.149G>A | dbSNP |
19 | g.10489850A= | CA2322454491 | KEAP1 | c.1329T= (p.Tyr443=) c.305-482T= c.148T= | |
19 | g.10489850A>C | CA403986928 | KEAP1 | c.1329T>G (p.Tyr443Ter) c.305-482T>G c.148T>G | |
19 | g.10489850A>G | CA9195489 | KEAP1 | c.1329T>C (p.Tyr443=) c.305-482T>C c.148T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489850A>T | CA403986931 | KEAP1 | c.1329T>A (p.Tyr443Ter) c.305-482T>A c.148T>A | |
19 | g.10489851T>A | CA403986934 | KEAP1 | c.1328A>T (p.Tyr443Phe) c.305-483A>T c.147A>T | dbSNP |
19 | g.10489851T>C | CA403986937 | KEAP1 | c.1328A>G (p.Tyr443Cys) c.305-483A>G c.147A>G | |
19 | g.10489851T>G | CA403986939 | KEAP1 | c.1328A>C (p.Tyr443Ser) c.305-483A>C c.147A>C | |
19 | g.10489852A>C | CA403986943 | KEAP1 | c.1327T>G (p.Tyr443Asp) c.305-484T>G c.146T>G | |
19 | g.10489852A>G | CA403986946 | KEAP1 | c.1327T>C (p.Tyr443His) c.305-484T>C c.146T>C | |
19 | g.10489852A>T | CA403986952 | KEAP1 | c.1327T>A (p.Tyr443Asn) c.305-484T>A c.146T>A | |
19 | g.10489853C>A | CA403986958 | KEAP1 | c.1326G>T (p.Arg442Ser) c.305-485G>T c.145G>T | dbSNP |
19 | g.10489853C= | CA2322454492 | KEAP1 | c.1326G= (p.Arg442=) c.305-485G= c.145G= | |
19 | g.10489853C>G | CA403986956 | KEAP1 | c.1326G>C (p.Arg442Ser) c.305-485G>C c.145G>C | dbSNP |
19 | g.10489853C>T | CA9195490 | KEAP1 | c.1326G>A (p.Arg442=) c.305-485G>A c.145G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489854C>A | CA403986961 | KEAP1 | c.1326-1G>T (n.1326-1G>T) c.305-486G>T c.145-1G>T | dbSNP |
19 | g.10489854C= | CA2322454493 | KEAP1 | c.1326-1G= (n.1326-1G=) c.305-486G= c.145-1G= | |
19 | g.10489854C>G | CA403986964 | KEAP1 | c.1326-1G>C (n.1326-1G>C) c.305-486G>C c.145-1G>C | dbSNP |
19 | g.10489854C>T | CA403986966 | KEAP1 | c.1326-1G>A (n.1326-1G>A) c.305-486G>A c.145-1G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10489854_10489855delinsCT | CA2322454494 | KEAP1 | c.1326-2_1326-1delinsAG (n.1326-2_1326-1delinsAG) c.305-487_305-486delinsAG c.145-2_145-1delinsAG | |
19 | g.10489855del | CA632056392 | KEAP1 | c.1326-2del (n.1326-2del) c.305-487del c.145-2del | dbSNP gnomAD v2 |
19 | g.10489855T>A | CA403986968 | KEAP1 | c.1326-2A>T (n.1326-2A>T) c.305-487A>T c.145-2A>T | dbSNP gnomAD v4 COSMIC |
19 | g.10489855T>C | CA403986969 | KEAP1 | c.1326-2A>G (n.1326-2A>G) c.305-487A>G c.145-2A>G | dbSNP |
19 | g.10489855T>G | CA403986971 | KEAP1 | c.1326-2A>C (n.1326-2A>C) c.305-487A>C c.145-2A>C | dbSNP |
19 | g.10489855_10489856insCTCCACACTGTTGTGGTGGATGCAGCCGTGGGAGCC | CA2735432974 | KEAP1 | c.1326-3_1326-2insGGCTCCCACGGCTGCATCCACCACAACAGTGTGGAG (n.1326-3_1326-2insGGCTCCCACGGCTGCATCCACCACAACAGTGTGGAG) c.305-488_305-487insGGCTCCCACGGCTGCATCCACCACAACAGTGTGGAG c.145-3_145-2insGGCTCCCACGGCTGCATCCACCACAACAGTGTGGAG | dbSNP |
19 | g.10489856G>A | CA2735372331 | KEAP1 | c.1326-3C>T (n.1326-3C>T) c.305-488C>T c.145-3C>T | dbSNP |
19 | g.10489856G>C | CA632056394 | KEAP1 | c.1326-3C>G (n.1326-3C>G) c.305-488C>G c.145-3C>G | dbSNP gnomAD v2 |
19 | g.10489856G= | CA2322454495 | KEAP1 | c.1326-3C= (n.1326-3C=) c.305-488C= c.145-3C= | |
19 | g.10489856G>T | CA2582389805 | KEAP1 | c.1326-3C>A (n.1326-3C>A) c.305-488C>A c.145-3C>A | dbSNP gnomAD v4 |
19 | g.10489857C>T | CA2582389806 | KEAP1 | c.1326-4G>A (n.1326-4G>A) c.305-489G>A c.145-4G>A | gnomAD v4 |
19 | g.10489858A>G | CA2735432975 | KEAP1 | c.1326-5T>C (n.1326-5T>C) c.305-490T>C c.145-5T>C | dbSNP |
19 | g.10489858A>T | CA2582389807 | KEAP1 | c.1326-5T>A (n.1326-5T>A) c.305-490T>A c.145-5T>A | dbSNP gnomAD v4 |
19 | g.10489859A>G | CA2735432976 | KEAP1 | c.1326-6T>C (n.1326-6T>C) c.305-491T>C c.145-6T>C | dbSNP |
19 | g.10489859A>T | CA2735432977 | KEAP1 | c.1326-6T>A (n.1326-6T>A) c.305-491T>A c.145-6T>A | dbSNP |
19 | g.10489860G>A | CA9195491 | KEAP1 | c.1326-7C>T (n.1326-7C>T) c.305-492C>T c.145-7C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489860G= | CA2322454496 | KEAP1 | c.1326-7C= (n.1326-7C=) c.305-492C= c.145-7C= | |
19 | g.10489860G>T | CA2582389808 | KEAP1 | c.1326-7C>A (n.1326-7C>A) c.305-492C>A c.145-7C>A | dbSNP gnomAD v4 |
19 | g.10489861G>A | CA2582389809 | KEAP1 | c.1326-8C>T (n.1326-8C>T) c.305-493C>T c.145-8C>T | dbSNP gnomAD v4 |
19 | g.10489861G>C | CA2735432979 | KEAP1 | c.1326-8C>G (n.1326-8C>G) c.305-493C>G c.145-8C>G | dbSNP |
19 | g.10489861G>T | CA2735432978 | KEAP1 | c.1326-8C>A (n.1326-8C>A) c.305-493C>A c.145-8C>A | dbSNP |
19 | g.10489862G>A | CA2582389810 | KEAP1 | c.1326-9C>T (n.1326-9C>T) c.305-494C>T c.145-9C>T | dbSNP gnomAD v4 |
19 | g.10489862G>C | CA632056399 | KEAP1 | c.1326-9C>G (n.1326-9C>G) c.305-494C>G c.145-9C>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.10489862G= | CA2322454497 | KEAP1 | c.1326-9C= (n.1326-9C=) c.305-494C= c.145-9C= | |
19 | g.10489862G>T | CA2735365629 | KEAP1 | c.1326-9C>A (n.1326-9C>A) c.305-494C>A c.145-9C>A | dbSNP |
19 | g.10489863C>A | CA2735336475 | KEAP1 | c.1326-10G>T (n.1326-10G>T) c.305-495G>T c.145-10G>T | dbSNP |
19 | g.10489863C= | CA2322454498 | KEAP1 | c.1326-10G= (n.1326-10G=) c.305-495G= c.145-10G= | |
19 | g.10489863C>G | CA783182507 | KEAP1 | c.1326-10G>C (n.1326-10G>C) c.305-495G>C c.145-10G>C | dbSNP |
19 | g.10489863C>T | CA9195492 | KEAP1 | c.1326-10G>A (n.1326-10G>A) c.305-495G>A c.145-10G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489864G>A | CA9195493 | KEAP1 | c.1326-11C>T (n.1326-11C>T) c.305-496C>T c.145-11C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.10489864G>C | CA2735342309 | KEAP1 | c.1326-11C>G (n.1326-11C>G) c.305-496C>G c.145-11C>G | dbSNP |
19 | g.10489864G= | CA2322454499 | KEAP1 | c.1326-11C= (n.1326-11C=) c.305-496C= c.145-11C= | |
19 | g.10489865T>A | CA2582389811 | KEAP1 | c.1326-12A>T (n.1326-12A>T) c.305-497A>T c.145-12A>T | dbSNP gnomAD v4 |
19 | g.10489865T>C | CA9195494 | KEAP1 | c.1326-12A>G (n.1326-12A>G) c.305-497A>G c.145-12A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.10489865T= | CA2322454500 | KEAP1 | c.1326-12A= (n.1326-12A=) c.305-497A= c.145-12A= | |
19 | g.10489866A>G | CA2735432980 | KEAP1 | c.1326-13T>C (n.1326-13T>C) c.305-498T>C c.145-13T>C | dbSNP |