Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839353_128839358del | CA2616771379 | KCNJ1 | c.887_892del (p.Val296_Pro297del) c.944_949del (p.Val315_Pro316del) c.938_943del (p.Val313_Pro314del) | gnomAD v4 |
11 | g.128839353T>A | CA477702956 | KCNJ1 | c.891A>T (p.Pro297=) c.948A>T (p.Pro316=) c.942A>T (p.Pro314=) | |
11 | g.128839353T>C | CA477702958 | KCNJ1 | c.891A>G (p.Pro297=) c.948A>G (p.Pro316=) c.942A>G (p.Pro314=) | |
11 | g.128839353T>G | CA477702957 | KCNJ1 | c.891A>C (p.Pro297=) c.948A>C (p.Pro316=) c.942A>C (p.Pro314=) | |
11 | g.128839354G>A | CA230627971 | KCNJ1 | c.890C>T (p.Pro297Leu) c.947C>T (p.Pro316Leu) c.941C>T (p.Pro314Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.128839354G>C | CA383243405 | KCNJ1 | c.890C>G (p.Pro297Arg) c.947C>G (p.Pro316Arg) c.941C>G (p.Pro314Arg) | |
11 | g.128839354G= | CA2008286372 | KCNJ1 | c.890C= (p.Pro297=) c.947C= (p.Pro316=) c.941C= (p.Pro314=) | |
11 | g.128839354G>T | CA383243407 | KCNJ1 | c.890C>A (p.Pro297Gln) c.947C>A (p.Pro316Gln) c.941C>A (p.Pro314Gln) | |
11 | g.128839356del | CA2616771380 | KCNJ1 | c.890del (p.Pro297GlnfsTer13) c.947del (p.Pro316GlnfsTer13) c.941del (p.Pro314GlnfsTer13) | gnomAD v4 |
11 | g.128839355G>A | CA383243408 | KCNJ1 | c.889C>T (p.Pro297Ser) c.946C>T (p.Pro316Ser) c.940C>T (p.Pro314Ser) | COSMIC |
11 | g.128839355G>C | CA383243410 | KCNJ1 | c.889C>G (p.Pro297Ala) c.946C>G (p.Pro316Ala) c.940C>G (p.Pro314Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839355G= | CA2008286375 | KCNJ1 | c.889C= (p.Pro297=) c.946C= (p.Pro316=) c.940C= (p.Pro314=) | |
11 | g.128839355G>T | CA383243412 | KCNJ1 | c.889C>A (p.Pro297Thr) c.946C>A (p.Pro316Thr) c.940C>A (p.Pro314Thr) | |
11 | g.128839356G>A | CA6357429 | KCNJ1 | c.888C>T (p.Val296=) c.945C>T (p.Val315=) c.939C>T (p.Val313=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839356G>C | CA477702960 | KCNJ1 | c.888C>G (p.Val296=) c.945C>G (p.Val315=) c.939C>G (p.Val313=) | |
11 | g.128839356G= | CA2008286377 | KCNJ1 | c.888C= (p.Val296=) c.945C= (p.Val315=) c.939C= (p.Val313=) | |
11 | g.128839356G>T | CA477702961 | KCNJ1 | c.888C>A (p.Val296=) c.945C>A (p.Val315=) c.939C>A (p.Val313=) | COSMIC |
11 | g.128839357A= | CA2008286379 | KCNJ1 | c.887T= (p.Val296=) c.944T= (p.Val315=) c.938T= (p.Val313=) | |
11 | g.128839357A>C | CA6357430 | KCNJ1 | c.887T>G (p.Val296Gly) c.944T>G (p.Val315Gly) c.938T>G (p.Val313Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839357A>G | CA383243417 | KCNJ1 | c.887T>C (p.Val296Ala) c.944T>C (p.Val315Ala) c.938T>C (p.Val313Ala) | |
11 | g.128839357A>T | CA383243419 | KCNJ1 | c.887T>A (p.Val296Asp) c.944T>A (p.Val315Asp) c.938T>A (p.Val313Asp) | |
11 | g.128839358C>A | CA383243421 | KCNJ1 | c.886G>T (p.Val296Phe) c.943G>T (p.Val315Phe) c.937G>T (p.Val313Phe) | dbSNP |
11 | g.128839358C= | CA2008286381 | KCNJ1 | c.886G= (p.Val296=) c.943G= (p.Val315=) c.937G= (p.Val313=) | |
11 | g.128839358C>G | CA383243423 | KCNJ1 | c.886G>C (p.Val296Leu) c.943G>C (p.Val315Leu) c.937G>C (p.Val313Leu) | |
11 | g.128839358C>T | CA383243425 | KCNJ1 | c.886G>A (p.Val296Ile) c.943G>A (p.Val315Ile) c.937G>A (p.Val313Ile) | |
11 | g.128839359A= | CA2008286384 | KCNJ1 | c.885T= (p.Tyr295=) c.942T= (p.Tyr314=) c.936T= (p.Tyr312=) | |
11 | g.128839359A>C | CA383243426 | KCNJ1 | c.885T>G (p.Tyr295Ter) c.942T>G (p.Tyr314Ter) c.936T>G (p.Tyr312Ter) | |
11 | g.128839359A>G | CA477702962 | KCNJ1 | c.885T>C (p.Tyr295=) c.942T>C (p.Tyr314=) c.936T>C (p.Tyr312=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839359A>T | CA383243430 | KCNJ1 | c.885T>A (p.Tyr295Ter) c.942T>A (p.Tyr314Ter) c.936T>A (p.Tyr312Ter) | |
11 | g.128839360T>A | CA383243431 | KCNJ1 | c.884A>T (p.Tyr295Phe) c.941A>T (p.Tyr314Phe) c.935A>T (p.Tyr312Phe) | gnomAD v4 |
11 | g.128839360T>C | CA6357431 | KCNJ1 | c.884A>G (p.Tyr295Cys) c.941A>G (p.Tyr314Cys) c.935A>G (p.Tyr312Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839360T>G | CA383243432 | KCNJ1 | c.884A>C (p.Tyr295Ser) c.941A>C (p.Tyr314Ser) c.935A>C (p.Tyr312Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839360T= | CA2008286388 | KCNJ1 | c.884A= (p.Tyr295=) c.941A= (p.Tyr314=) c.935A= (p.Tyr312=) | |
11 | g.128839361A>C | CA383243436 | KCNJ1 | c.883T>G (p.Tyr295Asp) c.940T>G (p.Tyr314Asp) c.934T>G (p.Tyr312Asp) | |
11 | g.128839361A>G | CA383243437 | KCNJ1 | c.883T>C (p.Tyr295His) c.940T>C (p.Tyr314His) c.934T>C (p.Tyr312His) | |
11 | g.128839361A>T | CA383243439 | KCNJ1 | c.883T>A (p.Tyr295Asn) c.940T>A (p.Tyr314Asn) c.934T>A (p.Tyr312Asn) | gnomAD v4 |
11 | g.128839362G>A | CA230628031 | KCNJ1 | c.882C>T (p.Ser294=) c.939C>T (p.Ser313=) c.933C>T (p.Ser311=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839362G>C | CA477702965 | KCNJ1 | c.882C>G (p.Ser294=) c.939C>G (p.Ser313=) c.933C>G (p.Ser311=) | gnomAD v4 |
11 | g.128839362G= | CA2008286391 | KCNJ1 | c.882C= (p.Ser294=) c.939C= (p.Ser313=) c.933C= (p.Ser311=) | |
11 | g.128839362G>T | CA477702966 | KCNJ1 | c.882C>A (p.Ser294=) c.939C>A (p.Ser313=) c.933C>A (p.Ser311=) | |
11 | g.128839363G>A | CA383243440 | KCNJ1 | c.881C>T (p.Ser294Phe) c.938C>T (p.Ser313Phe) c.932C>T (p.Ser311Phe) | dbSNP gnomAD v2 COSMIC |
11 | g.128839363G>C | CA383243441 | KCNJ1 | c.881C>G (p.Ser294Cys) c.938C>G (p.Ser313Cys) c.932C>G (p.Ser311Cys) | |
11 | g.128839363G= | CA2008286393 | KCNJ1 | c.881C= (p.Ser294=) c.938C= (p.Ser313=) c.932C= (p.Ser311=) | |
11 | g.128839363G>T | CA383243442 | KCNJ1 | c.881C>A (p.Ser294Tyr) c.938C>A (p.Ser313Tyr) c.932C>A (p.Ser311Tyr) | |
11 | g.128839364A>C | CA383243445 | KCNJ1 | c.880T>G (p.Ser294Ala) c.937T>G (p.Ser313Ala) c.931T>G (p.Ser311Ala) | |
11 | g.128839364A>G | CA383243446 | KCNJ1 | c.880T>C (p.Ser294Pro) c.937T>C (p.Ser313Pro) c.931T>C (p.Ser311Pro) | |
11 | g.128839364A>T | CA383243447 | KCNJ1 | c.880T>A (p.Ser294Thr) c.937T>A (p.Ser313Thr) c.931T>A (p.Ser311Thr) | ClinVar |
11 | g.128839365T>A | CA477702968 | KCNJ1 | c.879A>T (p.Thr293=) c.936A>T (p.Thr312=) c.930A>T (p.Thr310=) | |
11 | g.128839365T>C | CA477702969 | KCNJ1 | c.879A>G (p.Thr293=) c.936A>G (p.Thr312=) c.930A>G (p.Thr310=) | |
11 | g.128839365T>G | CA477702970 | KCNJ1 | c.879A>C (p.Thr293=) c.936A>C (p.Thr312=) c.930A>C (p.Thr310=) | |
11 | g.128839366G>A | CA383243448 | KCNJ1 | c.878C>T (p.Thr293Ile) c.935C>T (p.Thr312Ile) c.929C>T (p.Thr310Ile) | gnomAD v4 |
11 | g.128839366G>C | CA383243450 | KCNJ1 | c.878C>G (p.Thr293Arg) c.935C>G (p.Thr312Arg) c.929C>G (p.Thr310Arg) | |
11 | g.128839366G>T | CA383243452 | KCNJ1 | c.878C>A (p.Thr293Lys) c.935C>A (p.Thr312Lys) c.929C>A (p.Thr310Lys) | |
11 | g.128839367T>A | CA383243457 | KCNJ1 | c.877A>T (p.Thr293Ser) c.934A>T (p.Thr312Ser) c.928A>T (p.Thr310Ser) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839367T>C | CA6357432 | KCNJ1 | c.877A>G (p.Thr293Ala) c.934A>G (p.Thr312Ala) c.928A>G (p.Thr310Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839367T>G | CA383243455 | KCNJ1 | c.877A>C (p.Thr293Pro) c.934A>C (p.Thr312Pro) c.928A>C (p.Thr310Pro) | |
11 | g.128839367T= | CA2008286396 | KCNJ1 | c.877A= (p.Thr293=) c.934A= (p.Thr312=) c.928A= (p.Thr310=) | |
11 | g.128839368C>A | CA477702973 | KCNJ1 | c.876G>T (p.Arg292=) c.933G>T (p.Arg311=) c.927G>T (p.Arg309=) | gnomAD v4 |
11 | g.128839368C= | CA2008286401 | KCNJ1 | c.876G= (p.Arg292=) c.933G= (p.Arg311=) c.927G= (p.Arg309=) | |
11 | g.128839368C>G | CA477702974 | KCNJ1 | c.876G>C (p.Arg292=) c.933G>C (p.Arg311=) c.927G>C (p.Arg309=) | |
11 | g.128839368C>T | CA6357433 | KCNJ1 | c.876G>A (p.Arg292=) c.933G>A (p.Arg311=) c.927G>A (p.Arg309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839369C>A | CA383243460 | KCNJ1 | c.875G>T (p.Arg292Leu) c.932G>T (p.Arg311Leu) c.926G>T (p.Arg309Leu) | |
11 | g.128839369C= | CA2008286404 | KCNJ1 | c.875G= (p.Arg292=) c.932G= (p.Arg311=) c.926G= (p.Arg309=) | |
11 | g.128839369C>G | CA383243464 | KCNJ1 | c.875G>C (p.Arg292Pro) c.932G>C (p.Arg311Pro) c.926G>C (p.Arg309Pro) | |
11 | g.128839369C>T | CA6357434 | KCNJ1 | c.875G>A (p.Arg292Gln) c.932G>A (p.Arg311Gln) c.926G>A (p.Arg309Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839370G>A | CA6357435 | KCNJ1 | c.874C>T (p.Arg292Trp) c.931C>T (p.Arg311Trp) c.925C>T (p.Arg309Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839370G>C | CA383243468 | KCNJ1 | c.874C>G (p.Arg292Gly) c.931C>G (p.Arg311Gly) c.925C>G (p.Arg309Gly) | |
11 | g.128839370G= | CA2008286406 | KCNJ1 | c.874C= (p.Arg292=) c.931C= (p.Arg311=) c.925C= (p.Arg309=) | |
11 | g.128839370G>T | CA477702976 | KCNJ1 | c.874C>A (p.Arg292=) c.931C>A (p.Arg311=) c.925C>A (p.Arg309=) | COSMIC |
11 | g.128839371G>A | CA477702977 | KCNJ1 | c.873C>T (p.Val291=) c.930C>T (p.Val310=) c.924C>T (p.Val308=) | gnomAD v4 |
11 | g.128839371G>C | CA477702978 | KCNJ1 | c.873C>G (p.Val291=) c.930C>G (p.Val310=) c.924C>G (p.Val308=) | |
11 | g.128839371G>T | CA477702979 | KCNJ1 | c.873C>A (p.Val291=) c.930C>A (p.Val310=) c.924C>A (p.Val308=) | |
11 | g.128839372A>C | CA383243469 | KCNJ1 | c.872T>G (p.Val291Gly) c.929T>G (p.Val310Gly) c.923T>G (p.Val308Gly) | |
11 | g.128839372A>G | CA383243471 | KCNJ1 | c.872T>C (p.Val291Ala) c.929T>C (p.Val310Ala) c.923T>C (p.Val308Ala) | |
11 | g.128839372A>T | CA383243473 | KCNJ1 | c.872T>A (p.Val291Asp) c.929T>A (p.Val310Asp) c.923T>A (p.Val308Asp) | |
11 | g.128839373C>A | CA383243477 | KCNJ1 | c.871G>T (p.Val291Phe) c.928G>T (p.Val310Phe) c.922G>T (p.Val308Phe) | |
11 | g.128839373C>G | CA383243479 | KCNJ1 | c.871G>C (p.Val291Leu) c.928G>C (p.Val310Leu) c.922G>C (p.Val308Leu) | |
11 | g.128839373C>T | CA383243480 | KCNJ1 | c.871G>A (p.Val291Ile) c.928G>A (p.Val310Ile) c.922G>A (p.Val308Ile) | |
11 | g.128839374T>A | CA383243481 | KCNJ1 | c.870A>T (p.Gln290His) c.927A>T (p.Gln309His) c.921A>T (p.Gln307His) | |
11 | g.128839374T>C | CA477702980 | KCNJ1 | c.870A>G (p.Gln290=) c.927A>G (p.Gln309=) c.921A>G (p.Gln307=) | |
11 | g.128839374T>G | CA383243483 | KCNJ1 | c.870A>C (p.Gln290His) c.927A>C (p.Gln309His) c.921A>C (p.Gln307His) | |
11 | g.128839375T>A | CA383243488 | KCNJ1 | c.869A>T (p.Gln290Leu) c.926A>T (p.Gln309Leu) c.920A>T (p.Gln307Leu) | |
11 | g.128839375T>C | CA383243490 | KCNJ1 | c.869A>G (p.Gln290Arg) c.926A>G (p.Gln309Arg) c.920A>G (p.Gln307Arg) | |
11 | g.128839375T>G | CA383243491 | KCNJ1 | c.869A>C (p.Gln290Pro) c.926A>C (p.Gln309Pro) c.920A>C (p.Gln307Pro) | |
11 | g.128839376G>A | CA383243493 | KCNJ1 | c.868C>T (p.Gln290Ter) c.925C>T (p.Gln309Ter) c.919C>T (p.Gln307Ter) | gnomAD v4 |
11 | g.128839376G>C | CA383243495 | KCNJ1 | c.868C>G (p.Gln290Glu) c.925C>G (p.Gln309Glu) c.919C>G (p.Gln307Glu) | |
11 | g.128839376G>T | CA383243497 | KCNJ1 | c.868C>A (p.Gln290Lys) c.925C>A (p.Gln309Lys) c.919C>A (p.Gln307Lys) | |
11 | g.128839377G>A | CA477702981 | KCNJ1 | c.867C>T (p.Cys289=) c.924C>T (p.Cys308=) c.918C>T (p.Cys306=) | |
11 | g.128839377G>C | CA383243500 | KCNJ1 | c.867C>G (p.Cys289Trp) c.924C>G (p.Cys308Trp) c.918C>G (p.Cys306Trp) | |
11 | g.128839377G= | CA2008286411 | KCNJ1 | c.867C= (p.Cys289=) c.924C= (p.Cys308=) c.918C= (p.Cys306=) | |
11 | g.128839377G>T | CA6357436 | KCNJ1 | c.867C>A (p.Cys289Ter) c.924C>A (p.Cys308Ter) c.918C>A (p.Cys306Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839378C>A | CA383243502 | KCNJ1 | c.866G>T (p.Cys289Phe) c.923G>T (p.Cys308Phe) c.917G>T (p.Cys306Phe) | |
11 | g.128839378C>G | CA383243503 | KCNJ1 | c.866G>C (p.Cys289Ser) c.923G>C (p.Cys308Ser) c.917G>C (p.Cys306Ser) | |
11 | g.128839378C>T | CA383243504 | KCNJ1 | c.866G>A (p.Cys289Tyr) c.923G>A (p.Cys308Tyr) c.917G>A (p.Cys306Tyr) | COSMIC |
11 | g.128839379A>C | CA383243505 | KCNJ1 | c.865T>G (p.Cys289Gly) c.922T>G (p.Cys308Gly) c.916T>G (p.Cys306Gly) | |
11 | g.128839379A>G | CA383243506 | KCNJ1 | c.865T>C (p.Cys289Arg) c.922T>C (p.Cys308Arg) c.916T>C (p.Cys306Arg) | gnomAD v4 |
11 | g.128839379A>T | CA383243508 | KCNJ1 | c.865T>A (p.Cys289Ser) c.922T>A (p.Cys308Ser) c.916T>A (p.Cys306Ser) | |
11 | g.128839380G>A | CA477702984 | KCNJ1 | c.864C>T (p.Thr288=) c.921C>T (p.Thr307=) c.915C>T (p.Thr305=) | |
11 | g.128839380G>C | CA477702986 | KCNJ1 | c.864C>G (p.Thr288=) c.921C>G (p.Thr307=) c.915C>G (p.Thr305=) | |
11 | g.128839380G>T | CA477702985 | KCNJ1 | c.864C>A (p.Thr288=) c.921C>A (p.Thr307=) c.915C>A (p.Thr305=) | |
11 | g.128839381G>A | CA6357437 | KCNJ1 | c.863C>T (p.Thr288Ile) c.920C>T (p.Thr307Ile) c.914C>T (p.Thr305Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839381G>C | CA383243511 | KCNJ1 | c.863C>G (p.Thr288Ser) c.920C>G (p.Thr307Ser) c.914C>G (p.Thr305Ser) | |
11 | g.128839381G= | CA2008286415 | KCNJ1 | c.863C= (p.Thr288=) c.920C= (p.Thr307=) c.914C= (p.Thr305=) | |
11 | g.128839381G>T | CA383243510 | KCNJ1 | c.863C>A (p.Thr288Asn) c.920C>A (p.Thr307Asn) c.914C>A (p.Thr305Asn) | |
11 | g.128839382T>A | CA383243513 | KCNJ1 | c.862A>T (p.Thr288Ser) c.919A>T (p.Thr307Ser) c.913A>T (p.Thr305Ser) | |
11 | g.128839382T>C | CA6357438 | KCNJ1 | c.862A>G (p.Thr288Ala) c.919A>G (p.Thr307Ala) c.913A>G (p.Thr305Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839382T>G | CA383243516 | KCNJ1 | c.862A>C (p.Thr288Pro) c.919A>C (p.Thr307Pro) c.913A>C (p.Thr305Pro) | dbSNP |
11 | g.128839382T= | CA2008286421 | KCNJ1 | c.862A= (p.Thr288=) c.919A= (p.Thr307=) c.913A= (p.Thr305=) | |
11 | g.128839383A>C | CA477702990 | KCNJ1 | c.861T>G (p.Ala287=) c.918T>G (p.Ala306=) c.912T>G (p.Ala304=) | |
11 | g.128839383A>G | CA477702991 | KCNJ1 | c.861T>C (p.Ala287=) c.918T>C (p.Ala306=) c.912T>C (p.Ala304=) | |
11 | g.128839383A>T | CA477702992 | KCNJ1 | c.861T>A (p.Ala287=) c.918T>A (p.Ala306=) c.912T>A (p.Ala304=) | |
11 | g.128839384G>A | CA6357439 | KCNJ1 | c.860C>T (p.Ala287Val) c.917C>T (p.Ala306Val) c.911C>T (p.Ala304Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839384G>C | CA383243517 | KCNJ1 | c.860C>G (p.Ala287Gly) c.917C>G (p.Ala306Gly) c.911C>G (p.Ala304Gly) | |
11 | g.128839384G= | CA2008286423 | KCNJ1 | c.860C= (p.Ala287=) c.917C= (p.Ala306=) c.911C= (p.Ala304=) | |
11 | g.128839384G>T | CA383243519 | KCNJ1 | c.860C>A (p.Ala287Asp) c.917C>A (p.Ala306Asp) c.911C>A (p.Ala304Asp) | |
11 | g.128839385C>A | CA383243520 | KCNJ1 | c.859G>T (p.Ala287Ser) c.916G>T (p.Ala306Ser) c.910G>T (p.Ala304Ser) | |
11 | g.128839385C= | CA2008286427 | KCNJ1 | c.859G= (p.Ala287=) c.916G= (p.Ala306=) c.910G= (p.Ala304=) | |
11 | g.128839385C>G | CA383243522 | KCNJ1 | c.859G>C (p.Ala287Pro) c.916G>C (p.Ala306Pro) c.910G>C (p.Ala304Pro) | |
11 | g.128839385C>T | CA383243523 | KCNJ1 | c.859G>A (p.Ala287Thr) c.916G>A (p.Ala306Thr) c.910G>A (p.Ala304Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839386A>C | CA383243524 | KCNJ1 | c.858T>G (p.Ser286Arg) c.915T>G (p.Ser305Arg) c.909T>G (p.Ser303Arg) | |
11 | g.128839386A>G | CA477702995 | KCNJ1 | c.858T>C (p.Ser286=) c.915T>C (p.Ser305=) c.909T>C (p.Ser303=) | |
11 | g.128839386A>T | CA383243526 | KCNJ1 | c.858T>A (p.Ser286Arg) c.915T>A (p.Ser305Arg) c.909T>A (p.Ser303Arg) | |
11 | g.128839387C>A | CA383243527 | KCNJ1 | c.857G>T (p.Ser286Ile) c.914G>T (p.Ser305Ile) c.908G>T (p.Ser303Ile) | |
11 | g.128839387C>G | CA383243530 | KCNJ1 | c.857G>C (p.Ser286Thr) c.914G>C (p.Ser305Thr) c.908G>C (p.Ser303Thr) | |
11 | g.128839387C>T | CA383243529 | KCNJ1 | c.857G>A (p.Ser286Asn) c.914G>A (p.Ser305Asn) c.908G>A (p.Ser303Asn) | |
11 | g.128839388T>A | CA230628072 | KCNJ1 | c.856A>T (p.Ser286Cys) c.913A>T (p.Ser305Cys) c.907A>T (p.Ser303Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839388T>C | CA383243538 | KCNJ1 | c.856A>G (p.Ser286Gly) c.913A>G (p.Ser305Gly) c.907A>G (p.Ser303Gly) | |
11 | g.128839388T>G | CA383243532 | KCNJ1 | c.856A>C (p.Ser286Arg) c.913A>C (p.Ser305Arg) c.907A>C (p.Ser303Arg) | |
11 | g.128839388T= | CA2008286430 | KCNJ1 | c.856A= (p.Ser286=) c.913A= (p.Ser305=) c.907A= (p.Ser303=) | |
11 | g.128839389G>A | CA477702998 | KCNJ1 | c.855C>T (p.Thr285=) c.912C>T (p.Thr304=) c.906C>T (p.Thr302=) | |
11 | g.128839389G>C | CA477702999 | KCNJ1 | c.855C>G (p.Thr285=) c.912C>G (p.Thr304=) c.906C>G (p.Thr302=) | |
11 | g.128839389G>T | CA477703000 | KCNJ1 | c.855C>A (p.Thr285=) c.912C>A (p.Thr304=) c.906C>A (p.Thr302=) | |
11 | g.128839390G>A | CA383243540 | KCNJ1 | c.854C>T (p.Thr285Ile) c.911C>T (p.Thr304Ile) c.905C>T (p.Thr302Ile) | gnomAD v4 |
11 | g.128839390G>C | CA383243543 | KCNJ1 | c.854C>G (p.Thr285Ser) c.911C>G (p.Thr304Ser) c.905C>G (p.Thr302Ser) | |
11 | g.128839390G>T | CA383243541 | KCNJ1 | c.854C>A (p.Thr285Asn) c.911C>A (p.Thr304Asn) c.905C>A (p.Thr302Asn) | |
11 | g.128839391T>A | CA383243545 | KCNJ1 | c.853A>T (p.Thr285Ser) c.910A>T (p.Thr304Ser) c.904A>T (p.Thr302Ser) | |
11 | g.128839391T>C | CA383243548 | KCNJ1 | c.853A>G (p.Thr285Ala) c.910A>G (p.Thr304Ala) c.904A>G (p.Thr302Ala) | |
11 | g.128839391T>G | CA383243547 | KCNJ1 | c.853A>C (p.Thr285Pro) c.910A>C (p.Thr304Pro) c.904A>C (p.Thr302Pro) | dbSNP |
11 | g.128839391T= | CA2008286432 | KCNJ1 | c.853A= (p.Thr285=) c.910A= (p.Thr304=) c.904A= (p.Thr302=) | |
11 | g.128839392G>A | CA477703003 | KCNJ1 | c.852C>T (p.Ser284=) c.909C>T (p.Ser303=) c.903C>T (p.Ser301=) | |
11 | g.128839392G>C | CA477703004 | KCNJ1 | c.852C>G (p.Ser284=) c.909C>G (p.Ser303=) c.903C>G (p.Ser301=) | |
11 | g.128839392G>T | CA477703005 | KCNJ1 | c.852C>A (p.Ser284=) c.909C>A (p.Ser303=) c.903C>A (p.Ser301=) | |
11 | g.128839393dup | CA2841227753 | KCNJ1 | c.852dup (p.Thr285HisfsTer?) c.909dup (p.Thr304HisfsTer?) c.903dup (p.Thr302HisfsTer?) | |
11 | g.128839393G>A | CA383243550 | KCNJ1 | c.851C>T (p.Ser284Phe) c.908C>T (p.Ser303Phe) c.902C>T (p.Ser301Phe) | dbSNP |
11 | g.128839393G>C | CA383243551 | KCNJ1 | c.851C>G (p.Ser284Cys) c.908C>G (p.Ser303Cys) c.902C>G (p.Ser301Cys) | |
11 | g.128839393G= | CA2008286435 | KCNJ1 | c.851C= (p.Ser284=) c.908C= (p.Ser303=) c.902C= (p.Ser301=) | |
11 | g.128839393G>T | CA383243552 | KCNJ1 | c.851C>A (p.Ser284Tyr) c.908C>A (p.Ser303Tyr) c.902C>A (p.Ser301Tyr) | gnomAD v4 |
11 | g.128839394A= | CA2008286437 | KCNJ1 | c.850T= (p.Ser284=) c.907T= (p.Ser303=) c.901T= (p.Ser301=) | |
11 | g.128839394A>C | CA383243554 | KCNJ1 | c.850T>G (p.Ser284Ala) c.907T>G (p.Ser303Ala) c.901T>G (p.Ser301Ala) | |
11 | g.128839394A>G | CA383243556 | KCNJ1 | c.850T>C (p.Ser284Pro) c.907T>C (p.Ser303Pro) c.901T>C (p.Ser301Pro) | dbSNP gnomAD v4 |
11 | g.128839394A>T | CA383243558 | KCNJ1 | c.850T>A (p.Ser284Thr) c.907T>A (p.Ser303Thr) c.901T>A (p.Ser301Thr) | |
11 | g.128839395C>A | CA383243560 | KCNJ1 | c.849G>T (p.Glu283Asp) c.906G>T (p.Glu302Asp) c.900G>T (p.Glu300Asp) | |
11 | g.128839395C= | CA2008286439 | KCNJ1 | c.849G= (p.Glu283=) c.906G= (p.Glu302=) c.900G= (p.Glu300=) | |
11 | g.128839395C>G | CA383243562 | KCNJ1 | c.849G>C (p.Glu283Asp) c.906G>C (p.Glu302Asp) c.900G>C (p.Glu300Asp) | |
11 | g.128839395C>T | CA6357440 | KCNJ1 | c.849G>A (p.Glu283=) c.906G>A (p.Glu302=) c.900G>A (p.Glu300=) | dbSNP ExAC gnomAD v4 |
11 | g.128839396T>A | CA383243569 | KCNJ1 | c.848A>T (p.Glu283Val) c.905A>T (p.Glu302Val) c.899A>T (p.Glu300Val) | |
11 | g.128839396T>C | CA383243567 | KCNJ1 | c.848A>G (p.Glu283Gly) c.905A>G (p.Glu302Gly) c.899A>G (p.Glu300Gly) | ClinVar |
11 | g.128839396T>G | CA383243566 | KCNJ1 | c.848A>C (p.Glu283Ala) c.905A>C (p.Glu302Ala) c.899A>C (p.Glu300Ala) | |
11 | g.128839397C>A | CA383243571 | KCNJ1 | c.847G>T (p.Glu283Ter) c.904G>T (p.Glu302Ter) c.898G>T (p.Glu300Ter) | |
11 | g.128839397C>G | CA383243573 | KCNJ1 | c.847G>C (p.Glu283Gln) c.904G>C (p.Glu302Gln) c.898G>C (p.Glu300Gln) | |
11 | g.128839397C>T | CA383243575 | KCNJ1 | c.847G>A (p.Glu283Lys) c.904G>A (p.Glu302Lys) c.898G>A (p.Glu300Lys) | gnomAD v4 |
11 | g.128839398C>A | CA477703008 | KCNJ1 | c.846G>T (p.Val282=) c.903G>T (p.Val301=) c.897G>T (p.Val299=) | |
11 | g.128839398C= | CA2008286444 | KCNJ1 | c.846G= (p.Val282=) c.903G= (p.Val301=) c.897G= (p.Val299=) | |
11 | g.128839398C>G | CA477703009 | KCNJ1 | c.846G>C (p.Val282=) c.903G>C (p.Val301=) c.897G>C (p.Val299=) | |
11 | g.128839398C>T | CA230628073 | KCNJ1 | c.846G>A (p.Val282=) c.903G>A (p.Val301=) c.897G>A (p.Val299=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839399A>C | CA383243577 | KCNJ1 | c.845T>G (p.Val282Gly) c.902T>G (p.Val301Gly) c.896T>G (p.Val299Gly) | gnomAD v4 |
11 | g.128839399A>G | CA383243578 | KCNJ1 | c.845T>C (p.Val282Ala) c.902T>C (p.Val301Ala) c.896T>C (p.Val299Ala) | gnomAD v4 |
11 | g.128839399A>T | CA383243580 | KCNJ1 | c.845T>A (p.Val282Glu) c.902T>A (p.Val301Glu) c.896T>A (p.Val299Glu) | |
11 | g.128839400C>A | CA383243582 | KCNJ1 | c.844G>T (p.Val282Leu) c.901G>T (p.Val301Leu) c.895G>T (p.Val299Leu) | |
11 | g.128839400C= | CA2008286445 | KCNJ1 | c.844G= (p.Val282=) c.901G= (p.Val301=) c.895G= (p.Val299=) | |
11 | g.128839400C>G | CA383243583 | KCNJ1 | c.844G>C (p.Val282Leu) c.901G>C (p.Val301Leu) c.895G>C (p.Val299Leu) | |
11 | g.128839400C>T | CA6357441 | KCNJ1 | c.844G>A (p.Val282Met) c.901G>A (p.Val301Met) c.895G>A (p.Val299Met) | dbSNP ExAC gnomAD v2 |
11 | g.128839401T>A | CA477703011 | KCNJ1 | c.843A>T (p.Thr281=) c.900A>T (p.Thr300=) c.894A>T (p.Thr298=) | |
11 | g.128839401T>C | CA477703012 | KCNJ1 | c.843A>G (p.Thr281=) c.900A>G (p.Thr300=) c.894A>G (p.Thr298=) | dbSNP |
11 | g.128839401T>G | CA477703013 | KCNJ1 | c.843A>C (p.Thr281=) c.900A>C (p.Thr300=) c.894A>C (p.Thr298=) | |
11 | g.128839401T= | CA2008286447 | KCNJ1 | c.843A= (p.Thr281=) c.900A= (p.Thr300=) c.894A= (p.Thr298=) | |
11 | g.128839402G>A | CA6357442 | KCNJ1 | c.842C>T (p.Thr281Ile) c.899C>T (p.Thr300Ile) c.893C>T (p.Thr298Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839402G>C | CA383243594 | KCNJ1 | c.842C>G (p.Thr281Arg) c.899C>G (p.Thr300Arg) c.893C>G (p.Thr298Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839402G= | CA2008286448 | KCNJ1 | c.842C= (p.Thr281=) c.899C= (p.Thr300=) c.893C= (p.Thr298=) | |
11 | g.128839402G>T | CA383243588 | KCNJ1 | c.842C>A (p.Thr281Lys) c.899C>A (p.Thr300Lys) c.893C>A (p.Thr298Lys) | gnomAD v4 |
11 | g.128839403T>A | CA383243597 | KCNJ1 | c.841A>T (p.Thr281Ser) c.898A>T (p.Thr300Ser) c.892A>T (p.Thr298Ser) | |
11 | g.128839403T>C | CA6357443 | KCNJ1 | c.841A>G (p.Thr281Ala) c.898A>G (p.Thr300Ala) c.892A>G (p.Thr298Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839403T>G | CA383243602 | KCNJ1 | c.841A>C (p.Thr281Pro) c.898A>C (p.Thr300Pro) c.892A>C (p.Thr298Pro) | |
11 | g.128839403T= | CA2008286454 | KCNJ1 | c.841A= (p.Thr281=) c.898A= (p.Thr300=) c.892A= (p.Thr298=) | |
11 | g.128839404G>A | CA477702828 | KCNJ1 | c.840C>T (p.Gly280=) c.897C>T (p.Gly299=) c.891C>T (p.Gly297=) | |
11 | g.128839404G>C | CA477702829 | KCNJ1 | c.840C>G (p.Gly280=) c.897C>G (p.Gly299=) c.891C>G (p.Gly297=) | |
11 | g.128839404G>T | CA477702831 | KCNJ1 | c.840C>A (p.Gly280=) c.897C>A (p.Gly299=) c.891C>A (p.Gly297=) | |
11 | g.128839405C>A | CA383243606 | KCNJ1 | c.839G>T (p.Gly280Val) c.896G>T (p.Gly299Val) c.890G>T (p.Gly297Val) | |
11 | g.128839405C>G | CA383243608 | KCNJ1 | c.839G>C (p.Gly280Ala) c.896G>C (p.Gly299Ala) c.890G>C (p.Gly297Ala) | |
11 | g.128839405C>T | CA383243611 | KCNJ1 | c.839G>A (p.Gly280Asp) c.896G>A (p.Gly299Asp) c.890G>A (p.Gly297Asp) | |
11 | g.128839406C>A | CA383243615 | KCNJ1 | c.838G>T (p.Gly280Cys) c.895G>T (p.Gly299Cys) c.889G>T (p.Gly297Cys) | |
11 | g.128839406C= | CA2008286456 | KCNJ1 | c.838G= (p.Gly280=) c.895G= (p.Gly299=) c.889G= (p.Gly297=) | |
11 | g.128839406C>G | CA383243618 | KCNJ1 | c.838G>C (p.Gly280Arg) c.895G>C (p.Gly299Arg) c.889G>C (p.Gly297Arg) | |
11 | g.128839406C>T | CA6357444 | KCNJ1 | c.838G>A (p.Gly280Ser) c.895G>A (p.Gly299Ser) c.889G>A (p.Gly297Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839407A= | CA2008286460 | KCNJ1 | c.837T= (p.Asp279=) c.894T= (p.Asp298=) c.888T= (p.Asp296=) | |
11 | g.128839407A>C | CA383243631 | KCNJ1 | c.837T>G (p.Asp279Glu) c.894T>G (p.Asp298Glu) c.888T>G (p.Asp296Glu) | |
11 | g.128839407A>G | CA6357445 | KCNJ1 | c.837T>C (p.Asp279=) c.894T>C (p.Asp298=) c.888T>C (p.Asp296=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839407A>T | CA383243637 | KCNJ1 | c.837T>A (p.Asp279Glu) c.894T>A (p.Asp298Glu) c.888T>A (p.Asp296Glu) | |
11 | g.128839408T>A | CA383243646 | KCNJ1 | c.836A>T (p.Asp279Val) c.893A>T (p.Asp298Val) c.887A>T (p.Asp296Val) | |
11 | g.128839408T>C | CA383243640 | KCNJ1 | c.836A>G (p.Asp279Gly) c.893A>G (p.Asp298Gly) c.887A>G (p.Asp296Gly) | |
11 | g.128839408T>G | CA383243644 | KCNJ1 | c.836A>C (p.Asp279Ala) c.893A>C (p.Asp298Ala) c.887A>C (p.Asp296Ala) | |
11 | g.128839409C>A | CA383243651 | KCNJ1 | c.835G>T (p.Asp279Tyr) c.892G>T (p.Asp298Tyr) c.886G>T (p.Asp296Tyr) | |
11 | g.128839409C>G | CA383243654 | KCNJ1 | c.835G>C (p.Asp279His) c.892G>C (p.Asp298His) c.886G>C (p.Asp296His) | |
11 | g.128839409C>T | CA383243657 | KCNJ1 | c.835G>A (p.Asp279Asn) c.892G>A (p.Asp298Asn) c.886G>A (p.Asp296Asn) | |
11 | g.128839410del | CA2741219565 | KCNJ1 | c.834del (p.Asp279MetfsTer?) c.891del (p.Asp298MetfsTer?) c.885del (p.Asp296MetfsTer?) | |
11 | g.128839410T>A | CA383243661 | KCNJ1 | c.834A>T (p.Leu278Phe) c.891A>T (p.Leu297Phe) c.885A>T (p.Leu295Phe) | |
11 | g.128839410T>C | CA477702834 | KCNJ1 | c.834A>G (p.Leu278=) c.891A>G (p.Leu297=) c.885A>G (p.Leu295=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839410T>G | CA383243663 | KCNJ1 | c.834A>C (p.Leu278Phe) c.891A>C (p.Leu297Phe) c.885A>C (p.Leu295Phe) | |
11 | g.128839410T= | CA2008286463 | KCNJ1 | c.834A= (p.Leu278=) c.891A= (p.Leu297=) c.885A= (p.Leu295=) | |
11 | g.128839411A= | CA2008286468 | KCNJ1 | c.833T= (p.Leu278=) c.890T= (p.Leu297=) c.884T= (p.Leu295=) | |
11 | g.128839411A>C | CA383243665 | KCNJ1 | c.833T>G (p.Leu278Ter) c.890T>G (p.Leu297Ter) c.884T>G (p.Leu295Ter) | |
11 | g.128839411A>G | CA383243666 | KCNJ1 | c.833T>C (p.Leu278Ser) c.890T>C (p.Leu297Ser) c.884T>C (p.Leu295Ser) | dbSNP gnomAD v4 |
11 | g.128839411A>T | CA383243670 | KCNJ1 | c.833T>A (p.Leu278Ter) c.890T>A (p.Leu297Ter) c.884T>A (p.Leu295Ter) | dbSNP |
11 | g.128839415del | CA2616771381 | KCNJ1 | c.833del (p.Leu278Ter) c.890del (p.Leu297Ter) c.884del (p.Leu295Ter) | gnomAD v4 |
11 | g.128839412A>C | CA383243673 | KCNJ1 | c.832T>G (p.Leu278Val) c.889T>G (p.Leu297Val) c.883T>G (p.Leu295Val) | |
11 | g.128839412A>G | CA477702837 | KCNJ1 | c.832T>C (p.Leu278=) c.889T>C (p.Leu297=) c.883T>C (p.Leu295=) | |
11 | g.128839412A>T | CA383243676 | KCNJ1 | c.832T>A (p.Leu278Ile) c.889T>A (p.Leu297Ile) c.883T>A (p.Leu295Ile) | |
11 | g.128839413A= | CA2008286473 | KCNJ1 | c.831T= (p.Phe277=) c.888T= (p.Phe296=) c.882T= (p.Phe294=) | |
11 | g.128839413A>C | CA383243685 | KCNJ1 | c.831T>G (p.Phe277Leu) c.888T>G (p.Phe296Leu) c.882T>G (p.Phe294Leu) | |
11 | g.128839413A>G | CA477702838 | KCNJ1 | c.831T>C (p.Phe277=) c.888T>C (p.Phe296=) c.882T>C (p.Phe294=) | |
11 | g.128839413A>T | CA6357446 | KCNJ1 | c.831T>A (p.Phe277Leu) c.888T>A (p.Phe296Leu) c.882T>A (p.Phe294Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839414A>C | CA383243695 | KCNJ1 | c.830T>G (p.Phe277Cys) c.887T>G (p.Phe296Cys) c.881T>G (p.Phe294Cys) | |
11 | g.128839414A>G | CA383243697 | KCNJ1 | c.830T>C (p.Phe277Ser) c.887T>C (p.Phe296Ser) c.881T>C (p.Phe294Ser) | |
11 | g.128839414A>T | CA383243692 | KCNJ1 | c.830T>A (p.Phe277Tyr) c.887T>A (p.Phe296Tyr) c.881T>A (p.Phe294Tyr) | |
11 | g.128839415A>C | CA383243712 | KCNJ1 | c.829T>G (p.Phe277Val) c.886T>G (p.Phe296Val) c.880T>G (p.Phe294Val) | |
11 | g.128839415A>G | CA383243700 | KCNJ1 | c.829T>C (p.Phe277Leu) c.886T>C (p.Phe296Leu) c.880T>C (p.Phe294Leu) | |
11 | g.128839415A>T | CA383243703 | KCNJ1 | c.829T>A (p.Phe277Ile) c.886T>A (p.Phe296Ile) c.880T>A (p.Phe294Ile) | |
11 | g.128839416C>A | CA477702841 | KCNJ1 | c.828G>T (p.Val276=) c.885G>T (p.Val295=) c.879G>T (p.Val293=) | |
11 | g.128839416C= | CA2008286476 | KCNJ1 | c.828G= (p.Val276=) c.885G= (p.Val295=) c.879G= (p.Val293=) | |
11 | g.128839416C>G | CA477702842 | KCNJ1 | c.828G>C (p.Val276=) c.885G>C (p.Val295=) c.879G>C (p.Val293=) | |
11 | g.128839416C>T | CA477702840 | KCNJ1 | c.828G>A (p.Val276=) c.885G>A (p.Val295=) c.879G>A (p.Val293=) | ClinVar dbSNP |
11 | g.128839417A= | CA2008286481 | KCNJ1 | c.827T= (p.Val276=) c.884T= (p.Val295=) c.878T= (p.Val293=) | |
11 | g.128839417A>C | CA383243717 | KCNJ1 | c.827T>G (p.Val276Gly) c.884T>G (p.Val295Gly) c.878T>G (p.Val293Gly) | dbSNP |
11 | g.128839417A>G | CA6357447 | KCNJ1 | c.827T>C (p.Val276Ala) c.884T>C (p.Val295Ala) c.878T>C (p.Val293Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839417A>T | CA383243723 | KCNJ1 | c.827T>A (p.Val276Glu) c.884T>A (p.Val295Glu) c.878T>A (p.Val293Glu) | |
11 | g.128839418C>A | CA383243727 | KCNJ1 | c.826G>T (p.Val276Leu) c.883G>T (p.Val295Leu) c.877G>T (p.Val293Leu) | |
11 | g.128839418C= | CA2008286483 | KCNJ1 | c.826G= (p.Val276=) c.883G= (p.Val295=) c.877G= (p.Val293=) | |
11 | g.128839418C>G | CA383243729 | KCNJ1 | c.826G>C (p.Val276Leu) c.883G>C (p.Val295Leu) c.877G>C (p.Val293Leu) | |
11 | g.128839418C>T | CA383243734 | KCNJ1 | c.826G>A (p.Val276Met) c.883G>A (p.Val295Met) c.877G>A (p.Val293Met) | dbSNP |
11 | g.128839419C>A | CA477702848 | KCNJ1 | c.825G>T (p.Val275=) c.882G>T (p.Val294=) c.876G>T (p.Val292=) | |
11 | g.128839419C>G | CA477702846 | KCNJ1 | c.825G>C (p.Val275=) c.882G>C (p.Val294=) c.876G>C (p.Val292=) | |
11 | g.128839419C>T | CA477702847 | KCNJ1 | c.825G>A (p.Val275=) c.882G>A (p.Val294=) c.876G>A (p.Val292=) | ClinVar |
11 | g.128839420A>C | CA383243736 | KCNJ1 | c.824T>G (p.Val275Gly) c.881T>G (p.Val294Gly) c.875T>G (p.Val292Gly) | |
11 | g.128839420A>G | CA383243743 | KCNJ1 | c.824T>C (p.Val275Ala) c.881T>C (p.Val294Ala) c.875T>C (p.Val292Ala) | |
11 | g.128839420A>T | CA383243745 | KCNJ1 | c.824T>A (p.Val275Glu) c.881T>A (p.Val294Glu) c.875T>A (p.Val292Glu) | |
11 | g.128839421C>A | CA383243747 | KCNJ1 | c.823G>T (p.Val275Leu) c.880G>T (p.Val294Leu) c.874G>T (p.Val292Leu) | |
11 | g.128839421C>G | CA383243749 | KCNJ1 | c.823G>C (p.Val275Leu) c.880G>C (p.Val294Leu) c.874G>C (p.Val292Leu) | gnomAD v4 |
11 | g.128839421C>T | CA383243752 | KCNJ1 | c.823G>A (p.Val275Met) c.880G>A (p.Val294Met) c.874G>A (p.Val292Met) | |
11 | g.128839422T>A | CA383243755 | KCNJ1 | c.822A>T (p.Leu274Phe) c.879A>T (p.Leu293Phe) c.873A>T (p.Leu291Phe) | |
11 | g.128839422T>C | CA477702849 | KCNJ1 | c.822A>G (p.Leu274=) c.879A>G (p.Leu293=) c.873A>G (p.Leu291=) | |
11 | g.128839422T>G | CA383243758 | KCNJ1 | c.822A>C (p.Leu274Phe) c.879A>C (p.Leu293Phe) c.873A>C (p.Leu291Phe) | |
11 | g.128839423A>C | CA383243760 | KCNJ1 | c.821T>G (p.Leu274Ter) c.878T>G (p.Leu293Ter) c.872T>G (p.Leu291Ter) | |
11 | g.128839423A>G | CA383243762 | KCNJ1 | c.821T>C (p.Leu274Ser) c.878T>C (p.Leu293Ser) c.872T>C (p.Leu291Ser) | |
11 | g.128839423A>T | CA383243764 | KCNJ1 | c.821T>A (p.Leu274Ter) c.878T>A (p.Leu293Ter) c.872T>A (p.Leu291Ter) | |
11 | g.128839424A>C | CA383243766 | KCNJ1 | c.820T>G (p.Leu274Val) c.877T>G (p.Leu293Val) c.871T>G (p.Leu291Val) | |
11 | g.128839424A>G | CA477702852 | KCNJ1 | c.820T>C (p.Leu274=) c.877T>C (p.Leu293=) c.871T>C (p.Leu291=) | |
11 | g.128839424A>T | CA383243768 | KCNJ1 | c.820T>A (p.Leu274Ile) c.877T>A (p.Leu293Ile) c.871T>A (p.Leu291Ile) | |
11 | g.128839424_128839425insACACACCCAACACA | CA2794083165 | KCNJ1 | c.820_821insGTGTTGGGTGTGTT (p.Leu274CysfsTer6) c.877_878insGTGTTGGGTGTGTT (p.Leu293CysfsTer6) c.871_872insGTGTTGGGTGTGTT (p.Leu291CysfsTer6) | |
11 | g.128839425T>A | CA383243771 | KCNJ1 | c.819A>T (p.Glu273Asp) c.876A>T (p.Glu292Asp) c.870A>T (p.Glu290Asp) | |
11 | g.128839425T>C | CA230628156 | KCNJ1 | c.819A>G (p.Glu273=) c.876A>G (p.Glu292=) c.870A>G (p.Glu290=) | ClinVar dbSNP gnomAD v4 |
11 | g.128839425T>G | CA383243774 | KCNJ1 | c.819A>C (p.Glu273Asp) c.876A>C (p.Glu292Asp) c.870A>C (p.Glu290Asp) | |
11 | g.128839425T= | CA2008286486 | KCNJ1 | c.819A= (p.Glu273=) c.876A= (p.Glu292=) c.870A= (p.Glu290=) | |
11 | g.128839426T>A | CA383243776 | KCNJ1 | c.818A>T (p.Glu273Val) c.875A>T (p.Glu292Val) c.869A>T (p.Glu290Val) | gnomAD v4 |
11 | g.128839426T>C | CA383243778 | KCNJ1 | c.818A>G (p.Glu273Gly) c.875A>G (p.Glu292Gly) c.869A>G (p.Glu290Gly) | |
11 | g.128839426T>G | CA383243780 | KCNJ1 | c.818A>C (p.Glu273Ala) c.875A>C (p.Glu292Ala) c.869A>C (p.Glu290Ala) | |
11 | g.128839427C>A | CA383243785 | KCNJ1 | c.817G>T (p.Glu273Ter) c.874G>T (p.Glu292Ter) c.868G>T (p.Glu290Ter) | |
11 | g.128839427C>G | CA383243784 | KCNJ1 | c.817G>C (p.Glu273Gln) c.874G>C (p.Glu292Gln) c.868G>C (p.Glu290Gln) | |
11 | g.128839427C>T | CA383243782 | KCNJ1 | c.817G>A (p.Glu273Lys) c.874G>A (p.Glu292Lys) c.868G>A (p.Glu290Lys) | |
11 | g.128839428A>C | CA383243787 | KCNJ1 | c.816T>G (p.Phe272Leu) c.873T>G (p.Phe291Leu) c.867T>G (p.Phe289Leu) | |
11 | g.128839428A>G | CA477702856 | KCNJ1 | c.816T>C (p.Phe272=) c.873T>C (p.Phe291=) c.867T>C (p.Phe289=) | |
11 | g.128839428A>T | CA383243789 | KCNJ1 | c.816T>A (p.Phe272Leu) c.873T>A (p.Phe291Leu) c.867T>A (p.Phe289Leu) | |
11 | g.128839429A>C | CA383243791 | KCNJ1 | c.815T>G (p.Phe272Cys) c.872T>G (p.Phe291Cys) c.866T>G (p.Phe289Cys) | |
11 | g.128839429A>G | CA383243793 | KCNJ1 | c.815T>C (p.Phe272Ser) c.872T>C (p.Phe291Ser) c.866T>C (p.Phe289Ser) | |
11 | g.128839429A>T | CA383243795 | KCNJ1 | c.815T>A (p.Phe272Tyr) c.872T>A (p.Phe291Tyr) c.866T>A (p.Phe289Tyr) | |
11 | g.128839430A>C | CA383243797 | KCNJ1 | c.814T>G (p.Phe272Val) c.871T>G (p.Phe291Val) c.865T>G (p.Phe289Val) | |
11 | g.128839430A>G | CA383243799 | KCNJ1 | c.814T>C (p.Phe272Leu) c.871T>C (p.Phe291Leu) c.865T>C (p.Phe289Leu) | |
11 | g.128839430A>T | CA383243801 | KCNJ1 | c.814T>A (p.Phe272Ile) c.871T>A (p.Phe291Ile) c.865T>A (p.Phe289Ile) | |
11 | g.128839431G>A | CA477702860 | KCNJ1 | c.813C>T (p.Asp271=) c.870C>T (p.Asp290=) c.864C>T (p.Asp288=) | |
11 | g.128839431G>C | CA383243802 | KCNJ1 | c.813C>G (p.Asp271Glu) c.870C>G (p.Asp290Glu) c.864C>G (p.Asp288Glu) | |
11 | g.128839431G>T | CA383243804 | KCNJ1 | c.813C>A (p.Asp271Glu) c.870C>A (p.Asp290Glu) c.864C>A (p.Asp288Glu) | |
11 | g.128839432T>A | CA383243807 | KCNJ1 | c.812A>T (p.Asp271Val) c.869A>T (p.Asp290Val) c.863A>T (p.Asp288Val) | dbSNP gnomAD v4 COSMIC |
11 | g.128839432T>C | CA383243808 | KCNJ1 | c.812A>G (p.Asp271Gly) c.869A>G (p.Asp290Gly) c.863A>G (p.Asp288Gly) | dbSNP |
11 | g.128839432T>G | CA383243810 | KCNJ1 | c.812A>C (p.Asp271Ala) c.869A>C (p.Asp290Ala) c.863A>C (p.Asp288Ala) | |
11 | g.128839432T= | CA2008286490 | KCNJ1 | c.812A= (p.Asp271=) c.869A= (p.Asp290=) c.863A= (p.Asp288=) | |
11 | g.128839433C>A | CA383243816 | KCNJ1 | c.811G>T (p.Asp271Tyr) c.868G>T (p.Asp290Tyr) c.862G>T (p.Asp288Tyr) | |
11 | g.128839433C>G | CA383243812 | KCNJ1 | c.811G>C (p.Asp271His) c.868G>C (p.Asp290His) c.862G>C (p.Asp288His) | |
11 | g.128839433C>T | CA383243814 | KCNJ1 | c.811G>A (p.Asp271Asn) c.868G>A (p.Asp290Asn) c.862G>A (p.Asp288Asn) | COSMIC |
11 | g.128839434C>A | CA383243818 | KCNJ1 | c.810G>T (p.Gln270His) c.867G>T (p.Gln289His) c.861G>T (p.Gln287His) | |
11 | g.128839434C= | CA2008286492 | KCNJ1 | c.810G= (p.Gln270=) c.867G= (p.Gln289=) c.861G= (p.Gln287=) | |
11 | g.128839434C>G | CA383243819 | KCNJ1 | c.810G>C (p.Gln270His) c.867G>C (p.Gln289His) c.861G>C (p.Gln287His) | |
11 | g.128839434C>T | CA477702866 | KCNJ1 | c.810G>A (p.Gln270=) c.867G>A (p.Gln289=) c.861G>A (p.Gln287=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839435T>A | CA383243822 | KCNJ1 | c.809A>T (p.Gln270Leu) c.866A>T (p.Gln289Leu) c.860A>T (p.Gln287Leu) | |
11 | g.128839435T>C | CA383243823 | KCNJ1 | c.809A>G (p.Gln270Arg) c.866A>G (p.Gln289Arg) c.860A>G (p.Gln287Arg) | |
11 | g.128839435T>G | CA383243825 | KCNJ1 | c.809A>C (p.Gln270Pro) c.866A>C (p.Gln289Pro) c.860A>C (p.Gln287Pro) | |
11 | g.128839436G>A | CA383243826 | KCNJ1 | c.808C>T (p.Gln270Ter) c.865C>T (p.Gln289Ter) c.859C>T (p.Gln287Ter) | ClinVar |
11 | g.128839436G>C | CA383243827 | KCNJ1 | c.808C>G (p.Gln270Glu) c.865C>G (p.Gln289Glu) c.859C>G (p.Gln287Glu) | |
11 | g.128839436G>T | CA383243828 | KCNJ1 | c.808C>A (p.Gln270Lys) c.865C>A (p.Gln289Lys) c.859C>A (p.Gln287Lys) | gnomAD v4 |
11 | g.128839437C>A | CA383243831 | KCNJ1 | c.807G>T (p.Gln269His) c.864G>T (p.Gln288His) c.858G>T (p.Gln286His) | |
11 | g.128839437C>G | CA383243832 | KCNJ1 | c.807G>C (p.Gln269His) c.864G>C (p.Gln288His) c.858G>C (p.Gln286His) | |
11 | g.128839437C>T | CA477702869 | KCNJ1 | c.807G>A (p.Gln269=) c.864G>A (p.Gln288=) c.858G>A (p.Gln286=) | ClinVar |
11 | g.128839438T>A | CA383243835 | KCNJ1 | c.806A>T (p.Gln269Leu) c.863A>T (p.Gln288Leu) c.857A>T (p.Gln286Leu) | |
11 | g.128839438T>C | CA383243837 | KCNJ1 | c.806A>G (p.Gln269Arg) c.863A>G (p.Gln288Arg) c.857A>G (p.Gln286Arg) | |
11 | g.128839438T>G | CA383243838 | KCNJ1 | c.806A>C (p.Gln269Pro) c.863A>C (p.Gln288Pro) c.857A>C (p.Gln286Pro) | |
11 | g.128839439G>A | CA383243842 | KCNJ1 | c.805C>T (p.Gln269Ter) c.862C>T (p.Gln288Ter) c.856C>T (p.Gln286Ter) | gnomAD v4 |
11 | g.128839439G>C | CA383243844 | KCNJ1 | c.805C>G (p.Gln269Glu) c.862C>G (p.Gln288Glu) c.856C>G (p.Gln286Glu) | |
11 | g.128839439G>T | CA383243840 | KCNJ1 | c.805C>A (p.Gln269Lys) c.862C>A (p.Gln288Lys) c.856C>A (p.Gln286Lys) | |
11 | g.128839440G>A | CA477702876 | KCNJ1 | c.804C>T (p.Leu268=) c.861C>T (p.Leu287=) c.855C>T (p.Leu285=) | gnomAD v4 |
11 | g.128839440G>C | CA477702877 | KCNJ1 | c.804C>G (p.Leu268=) c.861C>G (p.Leu287=) c.855C>G (p.Leu285=) | |
11 | g.128839440G>T | CA477702879 | KCNJ1 | c.804C>A (p.Leu268=) c.861C>A (p.Leu287=) c.855C>A (p.Leu285=) | gnomAD v4 |
11 | g.128839441A>C | CA383243848 | KCNJ1 | c.803T>G (p.Leu268Arg) c.860T>G (p.Leu287Arg) c.854T>G (p.Leu285Arg) | |
11 | g.128839441A>G | CA383243846 | KCNJ1 | c.803T>C (p.Leu268Pro) c.860T>C (p.Leu287Pro) c.854T>C (p.Leu285Pro) | |
11 | g.128839441A>T | CA383243849 | KCNJ1 | c.803T>A (p.Leu268His) c.860T>A (p.Leu287His) c.854T>A (p.Leu285His) | |
11 | g.128839442G>A | CA383243851 | KCNJ1 | c.802C>T (p.Leu268Phe) c.859C>T (p.Leu287Phe) c.853C>T (p.Leu285Phe) | gnomAD v4 COSMIC |
11 | g.128839442G>C | CA383243853 | KCNJ1 | c.802C>G (p.Leu268Val) c.859C>G (p.Leu287Val) c.853C>G (p.Leu285Val) | |
11 | g.128839442G>T | CA383243855 | KCNJ1 | c.802C>A (p.Leu268Ile) c.859C>A (p.Leu287Ile) c.853C>A (p.Leu285Ile) | |
11 | g.128839443A>C | CA477702889 | KCNJ1 | c.801T>G (p.Leu267=) c.858T>G (p.Leu286=) c.852T>G (p.Leu284=) | |
11 | g.128839443A>G | CA477702891 | KCNJ1 | c.801T>C (p.Leu267=) c.858T>C (p.Leu286=) c.852T>C (p.Leu284=) | |
11 | g.128839443A>T | CA477702892 | KCNJ1 | c.801T>A (p.Leu267=) c.858T>A (p.Leu286=) c.852T>A (p.Leu284=) | |
11 | g.128839444A>C | CA383243857 | KCNJ1 | c.800T>G (p.Leu267Arg) c.857T>G (p.Leu286Arg) c.851T>G (p.Leu284Arg) | |
11 | g.128839444A>G | CA383243859 | KCNJ1 | c.800T>C (p.Leu267Pro) c.857T>C (p.Leu286Pro) c.851T>C (p.Leu284Pro) | |
11 | g.128839444A>T | CA383243861 | KCNJ1 | c.800T>A (p.Leu267His) c.857T>A (p.Leu286His) c.851T>A (p.Leu284His) | |
11 | g.128839445G>A | CA383243862 | KCNJ1 | c.799C>T (p.Leu267Phe) c.856C>T (p.Leu286Phe) c.850C>T (p.Leu284Phe) | dbSNP |
11 | g.128839445G>C | CA383243864 | KCNJ1 | c.799C>G (p.Leu267Val) c.856C>G (p.Leu286Val) c.850C>G (p.Leu284Val) | dbSNP gnomAD v2 |
11 | g.128839445G= | CA2008286494 | KCNJ1 | c.799C= (p.Leu267=) c.856C= (p.Leu286=) c.850C= (p.Leu284=) | |
11 | g.128839445G>T | CA383243866 | KCNJ1 | c.799C>A (p.Leu267Ile) c.856C>A (p.Leu286Ile) c.850C>A (p.Leu284Ile) | |
11 | g.128839447dup | CA2841227754 | KCNJ1 | c.799dup (p.Leu267ProfsTer7) c.856dup (p.Leu286ProfsTer7) c.850dup (p.Leu284ProfsTer7) | |
11 | g.128839446G>A | CA6357449 | KCNJ1 | c.798C>T (p.Thr266=) c.855C>T (p.Thr285=) c.849C>T (p.Thr283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839446G>C | CA477702899 | KCNJ1 | c.798C>G (p.Thr266=) c.855C>G (p.Thr285=) c.849C>G (p.Thr283=) | ClinVar |
11 | g.128839446G= | CA2008286496 | KCNJ1 | c.798C= (p.Thr266=) c.855C= (p.Thr285=) c.849C= (p.Thr283=) | |
11 | g.128839446G>T | CA6357448 | KCNJ1 | c.798C>A (p.Thr266=) c.855C>A (p.Thr285=) c.849C>A (p.Thr283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839447G>A | CA383243870 | KCNJ1 | c.797C>T (p.Thr266Ile) c.854C>T (p.Thr285Ile) c.848C>T (p.Thr283Ile) | |
11 | g.128839447G>C | CA383243869 | KCNJ1 | c.797C>G (p.Thr266Ser) c.854C>G (p.Thr285Ser) c.848C>G (p.Thr283Ser) | |
11 | g.128839447G= | CA2008286499 | KCNJ1 | c.797C= (p.Thr266=) c.854C= (p.Thr285=) c.848C= (p.Thr283=) | |
11 | g.128839447G>T | CA383243868 | KCNJ1 | c.797C>A (p.Thr266Asn) c.854C>A (p.Thr285Asn) c.848C>A (p.Thr283Asn) | dbSNP gnomAD v4 |
11 | g.128839448T>A | CA383243871 | KCNJ1 | c.796A>T (p.Thr266Ser) c.853A>T (p.Thr285Ser) c.847A>T (p.Thr283Ser) | |
11 | g.128839448T>C | CA6357450 | KCNJ1 | c.796A>G (p.Thr266Ala) c.853A>G (p.Thr285Ala) c.847A>G (p.Thr283Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839448T>G | CA383243872 | KCNJ1 | c.796A>C (p.Thr266Pro) c.853A>C (p.Thr285Pro) c.847A>C (p.Thr283Pro) | |
11 | g.128839448T= | CA2008286502 | KCNJ1 | c.796A= (p.Thr266=) c.853A= (p.Thr285=) c.847A= (p.Thr283=) | |
11 | g.128839449C>A | CA383243873 | KCNJ1 | c.795G>T (p.Glu265Asp) c.852G>T (p.Glu284Asp) c.846G>T (p.Glu282Asp) | gnomAD v4 |
11 | g.128839449C>G | CA383243874 | KCNJ1 | c.795G>C (p.Glu265Asp) c.852G>C (p.Glu284Asp) c.846G>C (p.Glu282Asp) | |
11 | g.128839449C>T | CA477702904 | KCNJ1 | c.795G>A (p.Glu265=) c.852G>A (p.Glu284=) c.846G>A (p.Glu282=) | |
11 | g.128839450T>A | CA383243875 | KCNJ1 | c.794A>T (p.Glu265Val) c.851A>T (p.Glu284Val) c.845A>T (p.Glu282Val) | |
11 | g.128839450T>C | CA383243876 | KCNJ1 | c.794A>G (p.Glu265Gly) c.851A>G (p.Glu284Gly) c.845A>G (p.Glu282Gly) | |
11 | g.128839450T>G | CA383243877 | KCNJ1 | c.794A>C (p.Glu265Ala) c.851A>C (p.Glu284Ala) c.845A>C (p.Glu282Ala) | |
11 | g.128839451C>A | CA383243878 | KCNJ1 | c.793G>T (p.Glu265Ter) c.850G>T (p.Glu284Ter) c.844G>T (p.Glu282Ter) | dbSNP |
11 | g.128839451C= | CA2008286505 | KCNJ1 | c.793G= (p.Glu265=) c.850G= (p.Glu284=) c.844G= (p.Glu282=) | |
11 | g.128839451C>G | CA383243879 | KCNJ1 | c.793G>C (p.Glu265Gln) c.850G>C (p.Glu284Gln) c.844G>C (p.Glu282Gln) | gnomAD v4 |
11 | g.128839451C>T | CA383243880 | KCNJ1 | c.793G>A (p.Glu265Lys) c.850G>A (p.Glu284Lys) c.844G>A (p.Glu282Lys) | |
11 | g.128839452C>A | CA477702909 | KCNJ1 | c.792G>T (p.Ala264=) c.849G>T (p.Ala283=) c.843G>T (p.Ala281=) | |
11 | g.128839452C= | CA2008286512 | KCNJ1 | c.792G= (p.Ala264=) c.849G= (p.Ala283=) c.843G= (p.Ala281=) | |
11 | g.128839452C>G | CA477702911 | KCNJ1 | c.792G>C (p.Ala264=) c.849G>C (p.Ala283=) c.843G>C (p.Ala281=) | |
11 | g.128839452C>T | CA6357451 | KCNJ1 | c.792G>A (p.Ala264=) c.849G>A (p.Ala283=) c.843G>A (p.Ala281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839453G>A | CA6357452 | KCNJ1 | c.791C>T (p.Ala264Val) c.848C>T (p.Ala283Val) c.842C>T (p.Ala281Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839453G>C | CA383243882 | KCNJ1 | c.791C>G (p.Ala264Gly) c.848C>G (p.Ala283Gly) c.842C>G (p.Ala281Gly) | |
11 | g.128839453G= | CA2008286516 | KCNJ1 | c.791C= (p.Ala264=) c.848C= (p.Ala283=) c.842C= (p.Ala281=) | |
11 | g.128839453G>T | CA383243881 | KCNJ1 | c.791C>A (p.Ala264Glu) c.848C>A (p.Ala283Glu) c.842C>A (p.Ala281Glu) |