Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839632del | CA2575025048 | KCNJ1 | c.612del (p.Ser205ValfsTer8) c.669del (p.Ser224ValfsTer8) c.663del (p.Ser222ValfsTer8) | |
11 | g.128839632G>A | CA477703248 | KCNJ1 | c.612C>T (p.Gly204=) c.669C>T (p.Gly223=) c.663C>T (p.Gly221=) | gnomAD v4 |
11 | g.128839632G>C | CA477703249 | KCNJ1 | c.612C>G (p.Gly204=) c.669C>G (p.Gly223=) c.663C>G (p.Gly221=) | |
11 | g.128839632G>T | CA477703250 | KCNJ1 | c.612C>A (p.Gly204=) c.669C>A (p.Gly223=) c.663C>A (p.Gly221=) | |
11 | g.128839633C>A | CA383244654 | KCNJ1 | c.611G>T (p.Gly204Val) c.668G>T (p.Gly223Val) c.662G>T (p.Gly221Val) | |
11 | g.128839633C= | CA2008250637 | KCNJ1 | c.611G= (p.Gly204=) c.668G= (p.Gly223=) c.662G= (p.Gly221=) | |
11 | g.128839633C>G | CA383244655 | KCNJ1 | c.611G>C (p.Gly204Ala) c.668G>C (p.Gly223Ala) c.662G>C (p.Gly221Ala) | |
11 | g.128839633C>T | CA383244656 | KCNJ1 | c.611G>A (p.Gly204Asp) c.668G>A (p.Gly223Asp) c.662G>A (p.Gly221Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839634C>A | CA383244657 | KCNJ1 | c.610G>T (p.Gly204Cys) c.667G>T (p.Gly223Cys) c.661G>T (p.Gly221Cys) | |
11 | g.128839634C= | CA2008250643 | KCNJ1 | c.610G= (p.Gly204=) c.667G= (p.Gly223=) c.661G= (p.Gly221=) | |
11 | g.128839634C>G | CA6357487 | KCNJ1 | c.610G>C (p.Gly204Arg) c.667G>C (p.Gly223Arg) c.661G>C (p.Gly221Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839634C>T | CA383244658 | KCNJ1 | c.610G>A (p.Gly204Ser) c.667G>A (p.Gly223Ser) c.661G>A (p.Gly221Ser) | dbSNP |
11 | g.128839635A>C | CA383244659 | KCNJ1 | c.609T>G (p.Ile203Met) c.666T>G (p.Ile222Met) c.660T>G (p.Ile220Met) | |
11 | g.128839635A>G | CA477703251 | KCNJ1 | c.609T>C (p.Ile203=) c.666T>C (p.Ile222=) c.660T>C (p.Ile220=) | |
11 | g.128839635A>T | CA477703252 | KCNJ1 | c.609T>A (p.Ile203=) c.666T>A (p.Ile222=) c.660T>A (p.Ile220=) | |
11 | g.128839636A= | CA2008250651 | KCNJ1 | c.608T= (p.Ile203=) c.665T= (p.Ile222=) c.659T= (p.Ile220=) | |
11 | g.128839636A>C | CA383244660 | KCNJ1 | c.608T>G (p.Ile203Ser) c.665T>G (p.Ile222Ser) c.659T>G (p.Ile220Ser) | |
11 | g.128839636A>G | CA383244661 | KCNJ1 | c.608T>C (p.Ile203Thr) c.665T>C (p.Ile222Thr) c.659T>C (p.Ile220Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839636A>T | CA383244662 | KCNJ1 | c.608T>A (p.Ile203Asn) c.665T>A (p.Ile222Asn) c.659T>A (p.Ile220Asn) | |
11 | g.128839637T>A | CA383244664 | KCNJ1 | c.607A>T (p.Ile203Phe) c.664A>T (p.Ile222Phe) c.658A>T (p.Ile220Phe) | |
11 | g.128839637T>C | CA383244665 | KCNJ1 | c.607A>G (p.Ile203Val) c.664A>G (p.Ile222Val) c.658A>G (p.Ile220Val) | gnomAD v4 |
11 | g.128839637T>G | CA383244663 | KCNJ1 | c.607A>C (p.Ile203Leu) c.664A>C (p.Ile222Leu) c.658A>C (p.Ile220Leu) | |
11 | g.128839638A= | CA2008250654 | KCNJ1 | c.606T= (p.Leu202=) c.663T= (p.Leu221=) c.657T= (p.Leu219=) | |
11 | g.128839638A>C | CA477703253 | KCNJ1 | c.606T>G (p.Leu202=) c.663T>G (p.Leu221=) c.657T>G (p.Leu219=) | |
11 | g.128839638A>G | CA230628439 | KCNJ1 | c.606T>C (p.Leu202=) c.663T>C (p.Leu221=) c.657T>C (p.Leu219=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839638A>T | CA477703254 | KCNJ1 | c.606T>A (p.Leu202=) c.663T>A (p.Leu221=) c.657T>A (p.Leu219=) | |
11 | g.128839639A>C | CA383244666 | KCNJ1 | c.605T>G (p.Leu202Arg) c.662T>G (p.Leu221Arg) c.656T>G (p.Leu219Arg) | |
11 | g.128839639A>G | CA383244667 | KCNJ1 | c.605T>C (p.Leu202Pro) c.662T>C (p.Leu221Pro) c.656T>C (p.Leu219Pro) | |
11 | g.128839639A>T | CA383244668 | KCNJ1 | c.605T>A (p.Leu202His) c.662T>A (p.Leu221His) c.656T>A (p.Leu219His) | |
11 | g.128839640G>A | CA383244669 | KCNJ1 | c.604C>T (p.Leu202Phe) c.661C>T (p.Leu221Phe) c.655C>T (p.Leu219Phe) | |
11 | g.128839640G>C | CA383244670 | KCNJ1 | c.604C>G (p.Leu202Val) c.661C>G (p.Leu221Val) c.655C>G (p.Leu219Val) | |
11 | g.128839640G>T | CA383244671 | KCNJ1 | c.604C>A (p.Leu202Ile) c.661C>A (p.Leu221Ile) c.655C>A (p.Leu219Ile) | |
11 | g.128839641A>C | CA477703255 | KCNJ1 | c.603T>G (p.Leu201=) c.660T>G (p.Leu220=) c.654T>G (p.Leu218=) | |
11 | g.128839641A>G | CA477703256 | KCNJ1 | c.603T>C (p.Leu201=) c.660T>C (p.Leu220=) c.654T>C (p.Leu218=) | |
11 | g.128839641A>T | CA477703257 | KCNJ1 | c.603T>A (p.Leu201=) c.660T>A (p.Leu220=) c.654T>A (p.Leu218=) | |
11 | g.128839642A= | CA2008250659 | KCNJ1 | c.602T= (p.Leu201=) c.659T= (p.Leu220=) c.653T= (p.Leu218=) | |
11 | g.128839642A>C | CA383244672 | KCNJ1 | c.602T>G (p.Leu201Arg) c.659T>G (p.Leu220Arg) c.653T>G (p.Leu218Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839642A>G | CA383244673 | KCNJ1 | c.602T>C (p.Leu201Pro) c.659T>C (p.Leu220Pro) c.653T>C (p.Leu218Pro) | |
11 | g.128839642A>T | CA383244674 | KCNJ1 | c.602T>A (p.Leu201His) c.659T>A (p.Leu220His) c.653T>A (p.Leu218His) | dbSNP |
11 | g.128839643G>A | CA6357488 | KCNJ1 | c.601C>T (p.Leu201Phe) c.658C>T (p.Leu220Phe) c.652C>T (p.Leu218Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839643G>C | CA383244675 | KCNJ1 | c.601C>G (p.Leu201Val) c.658C>G (p.Leu220Val) c.652C>G (p.Leu218Val) | |
11 | g.128839643G= | CA2008250670 | KCNJ1 | c.601C= (p.Leu201=) c.658C= (p.Leu220=) c.652C= (p.Leu218=) | |
11 | g.128839643G>T | CA383244676 | KCNJ1 | c.601C>A (p.Leu201Ile) c.658C>A (p.Leu220Ile) c.652C>A (p.Leu218Ile) | |
11 | g.128839644G>A | CA477703258 | KCNJ1 | c.600C>T (p.Ser200=) c.657C>T (p.Ser219=) c.651C>T (p.Ser217=) | |
11 | g.128839644G>C | CA120152 | KCNJ1 | c.600C>G (p.Ser200Arg) c.657C>G (p.Ser219Arg) c.651C>G (p.Ser217Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839644G= | CA2008250694 | KCNJ1 | c.600C= (p.Ser200=) c.657C= (p.Ser219=) c.651C= (p.Ser217=) | |
11 | g.128839644G>T | CA383244677 | KCNJ1 | c.600C>A (p.Ser200Arg) c.657C>A (p.Ser219Arg) c.651C>A (p.Ser217Arg) | ClinVar gnomAD v4 |
11 | g.128839645C>A | CA383244678 | KCNJ1 | c.599G>T (p.Ser200Ile) c.656G>T (p.Ser219Ile) c.650G>T (p.Ser217Ile) | |
11 | g.128839645C>G | CA383244679 | KCNJ1 | c.599G>C (p.Ser200Thr) c.656G>C (p.Ser219Thr) c.650G>C (p.Ser217Thr) | |
11 | g.128839645C>T | CA383244680 | KCNJ1 | c.599G>A (p.Ser200Asn) c.656G>A (p.Ser219Asn) c.650G>A (p.Ser217Asn) | |
11 | g.128839646T>A | CA383244681 | KCNJ1 | c.598A>T (p.Ser200Cys) c.655A>T (p.Ser219Cys) c.649A>T (p.Ser217Cys) | |
11 | g.128839646T>C | CA383244682 | KCNJ1 | c.598A>G (p.Ser200Gly) c.655A>G (p.Ser219Gly) c.649A>G (p.Ser217Gly) | |
11 | g.128839646T>G | CA383244683 | KCNJ1 | c.598A>C (p.Ser200Arg) c.655A>C (p.Ser219Arg) c.649A>C (p.Ser217Arg) | |
11 | g.128839647C>A | CA383244684 | KCNJ1 | c.597G>T (p.Lys199Asn) c.654G>T (p.Lys218Asn) c.648G>T (p.Lys216Asn) | |
11 | g.128839647C= | CA2008250698 | KCNJ1 | c.597G= (p.Lys199=) c.654G= (p.Lys218=) c.648G= (p.Lys216=) | |
11 | g.128839647C>G | CA383244685 | KCNJ1 | c.597G>C (p.Lys199Asn) c.654G>C (p.Lys218Asn) c.648G>C (p.Lys216Asn) | dbSNP |
11 | g.128839647C>T | CA477703259 | KCNJ1 | c.597G>A (p.Lys199=) c.654G>A (p.Lys218=) c.648G>A (p.Lys216=) | |
11 | g.128839648T>A | CA383244686 | KCNJ1 | c.596A>T (p.Lys199Met) c.653A>T (p.Lys218Met) c.647A>T (p.Lys216Met) | dbSNP gnomAD v4 |
11 | g.128839648T>C | CA383244687 | KCNJ1 | c.596A>G (p.Lys199Arg) c.653A>G (p.Lys218Arg) c.647A>G (p.Lys216Arg) | |
11 | g.128839648T>G | CA383244688 | KCNJ1 | c.596A>C (p.Lys199Thr) c.653A>C (p.Lys218Thr) c.647A>C (p.Lys216Thr) | |
11 | g.128839648T= | CA2008250706 | KCNJ1 | c.596A= (p.Lys199=) c.653A= (p.Lys218=) c.647A= (p.Lys216=) | |
11 | g.128839649T>A | CA383244689 | KCNJ1 | c.595A>T (p.Lys199Ter) c.652A>T (p.Lys218Ter) c.646A>T (p.Lys216Ter) | dbSNP gnomAD v4 |
11 | g.128839649T>C | CA383244690 | KCNJ1 | c.595A>G (p.Lys199Glu) c.652A>G (p.Lys218Glu) c.646A>G (p.Lys216Glu) | |
11 | g.128839649T>G | CA383244691 | KCNJ1 | c.595A>C (p.Lys199Gln) c.652A>C (p.Lys218Gln) c.646A>C (p.Lys216Gln) | |
11 | g.128839649T= | CA2008250715 | KCNJ1 | c.595A= (p.Lys199=) c.652A= (p.Lys218=) c.646A= (p.Lys216=) | |
11 | g.128839650C>A | CA383244692 | KCNJ1 | c.594G>T (p.Arg198Ser) c.651G>T (p.Arg217Ser) c.645G>T (p.Arg215Ser) | |
11 | g.128839650C= | CA2008250720 | KCNJ1 | c.594G= (p.Arg198=) c.651G= (p.Arg217=) c.645G= (p.Arg215=) | |
11 | g.128839650C>G | CA383244693 | KCNJ1 | c.594G>C (p.Arg198Ser) c.651G>C (p.Arg217Ser) c.645G>C (p.Arg215Ser) | |
11 | g.128839650C>T | CA477703260 | KCNJ1 | c.594G>A (p.Arg198=) c.651G>A (p.Arg217=) c.645G>A (p.Arg215=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839651C>A | CA383244694 | KCNJ1 | c.593G>T (p.Arg198Met) c.650G>T (p.Arg217Met) c.644G>T (p.Arg215Met) | |
11 | g.128839651C= | CA2008250726 | KCNJ1 | c.593G= (p.Arg198=) c.650G= (p.Arg217=) c.644G= (p.Arg215=) | |
11 | g.128839651C>G | CA383244695 | KCNJ1 | c.593G>C (p.Arg198Thr) c.650G>C (p.Arg217Thr) c.644G>C (p.Arg215Thr) | |
11 | g.128839651C>T | CA383244696 | KCNJ1 | c.593G>A (p.Arg198Lys) c.650G>A (p.Arg217Lys) c.644G>A (p.Arg215Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839652T>A | CA383244697 | KCNJ1 | c.592A>T (p.Arg198Trp) c.649A>T (p.Arg217Trp) c.643A>T (p.Arg215Trp) | |
11 | g.128839652T>C | CA383244698 | KCNJ1 | c.592A>G (p.Arg198Gly) c.649A>G (p.Arg217Gly) c.643A>G (p.Arg215Gly) | |
11 | g.128839652T>G | CA477703261 | KCNJ1 | c.592A>C (p.Arg198=) c.649A>C (p.Arg217=) c.643A>C (p.Arg215=) | |
11 | g.128839653G>A | CA477703262 | KCNJ1 | c.591C>T (p.Leu197=) c.648C>T (p.Leu216=) c.642C>T (p.Leu214=) | dbSNP gnomAD v2 |
11 | g.128839653G>C | CA477703263 | KCNJ1 | c.591C>G (p.Leu197=) c.648C>G (p.Leu216=) c.642C>G (p.Leu214=) | dbSNP COSMIC |
11 | g.128839653G= | CA2008250734 | KCNJ1 | c.591C= (p.Leu197=) c.648C= (p.Leu216=) c.642C= (p.Leu214=) | |
11 | g.128839653G>T | CA477703264 | KCNJ1 | c.591C>A (p.Leu197=) c.648C>A (p.Leu216=) c.642C>A (p.Leu214=) | |
11 | g.128839654A>C | CA383244699 | KCNJ1 | c.590T>G (p.Leu197Arg) c.647T>G (p.Leu216Arg) c.641T>G (p.Leu214Arg) | |
11 | g.128839654A>G | CA383244700 | KCNJ1 | c.590T>C (p.Leu197Pro) c.647T>C (p.Leu216Pro) c.641T>C (p.Leu214Pro) | |
11 | g.128839654A>T | CA383244701 | KCNJ1 | c.590T>A (p.Leu197His) c.647T>A (p.Leu216His) c.641T>A (p.Leu214His) | |
11 | g.128839655G>A | CA383244702 | KCNJ1 | c.589C>T (p.Leu197Phe) c.646C>T (p.Leu216Phe) c.640C>T (p.Leu214Phe) | |
11 | g.128839655G>C | CA383244704 | KCNJ1 | c.589C>G (p.Leu197Val) c.646C>G (p.Leu216Val) c.640C>G (p.Leu214Val) | |
11 | g.128839655G>T | CA383244703 | KCNJ1 | c.589C>A (p.Leu197Ile) c.646C>A (p.Leu216Ile) c.640C>A (p.Leu214Ile) | |
11 | g.128839656A>C | CA383244705 | KCNJ1 | c.588T>G (p.Asn196Lys) c.645T>G (p.Asn215Lys) c.639T>G (p.Asn213Lys) | |
11 | g.128839656A>G | CA477703265 | KCNJ1 | c.588T>C (p.Asn196=) c.645T>C (p.Asn215=) c.639T>C (p.Asn213=) | |
11 | g.128839656A>T | CA383244706 | KCNJ1 | c.588T>A (p.Asn196Lys) c.645T>A (p.Asn215Lys) c.639T>A (p.Asn213Lys) | |
11 | g.128839657T>A | CA383244707 | KCNJ1 | c.587A>T (p.Asn196Ile) c.644A>T (p.Asn215Ile) c.638A>T (p.Asn213Ile) | |
11 | g.128839657T>C | CA383244708 | KCNJ1 | c.587A>G (p.Asn196Ser) c.644A>G (p.Asn215Ser) c.638A>G (p.Asn213Ser) | gnomAD v4 |
11 | g.128839657T>G | CA383244709 | KCNJ1 | c.587A>C (p.Asn196Thr) c.644A>C (p.Asn215Thr) c.638A>C (p.Asn213Thr) | |
11 | g.128839658T>A | CA383244710 | KCNJ1 | c.586A>T (p.Asn196Tyr) c.643A>T (p.Asn215Tyr) c.637A>T (p.Asn213Tyr) | |
11 | g.128839658T>C | CA6357489 | KCNJ1 | c.586A>G (p.Asn196Asp) c.643A>G (p.Asn215Asp) c.637A>G (p.Asn213Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839658T>G | CA383244711 | KCNJ1 | c.586A>C (p.Asn196His) c.643A>C (p.Asn215His) c.637A>C (p.Asn213His) | |
11 | g.128839658T= | CA2008250741 | KCNJ1 | c.586A= (p.Asn196=) c.643A= (p.Asn215=) c.637A= (p.Asn213=) | |
11 | g.128839659A>C | CA477703268 | KCNJ1 | c.585T>G (p.Ala195=) c.642T>G (p.Ala214=) c.636T>G (p.Ala212=) | |
11 | g.128839659A>G | CA477703269 | KCNJ1 | c.585T>C (p.Ala195=) c.642T>C (p.Ala214=) c.636T>C (p.Ala212=) | |
11 | g.128839659A>T | CA477703270 | KCNJ1 | c.585T>A (p.Ala195=) c.642T>A (p.Ala214=) c.636T>A (p.Ala212=) | |
11 | g.128839660G>A | CA120154 | KCNJ1 | c.584C>T (p.Ala195Val) c.641C>T (p.Ala214Val) c.635C>T (p.Ala212Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839660G>C | CA6357490 | KCNJ1 | c.584C>G (p.Ala195Gly) c.641C>G (p.Ala214Gly) c.635C>G (p.Ala212Gly) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
11 | g.128839660G= | CA2008250746 | KCNJ1 | c.584C= (p.Ala195=) c.641C= (p.Ala214=) c.635C= (p.Ala212=) | |
11 | g.128839660G>T | CA383244712 | KCNJ1 | c.584C>A (p.Ala195Asp) c.641C>A (p.Ala214Asp) c.635C>A (p.Ala212Asp) | |
11 | g.128839661C>A | CA383244713 | KCNJ1 | c.583G>T (p.Ala195Ser) c.640G>T (p.Ala214Ser) c.634G>T (p.Ala212Ser) | |
11 | g.128839661C= | CA2008250759 | KCNJ1 | c.583G= (p.Ala195=) c.640G= (p.Ala214=) c.634G= (p.Ala212=) | |
11 | g.128839661C>G | CA383244714 | KCNJ1 | c.583G>C (p.Ala195Pro) c.640G>C (p.Ala214Pro) c.634G>C (p.Ala212Pro) | |
11 | g.128839661C>T | CA383244715 | KCNJ1 | c.583G>A (p.Ala195Thr) c.640G>A (p.Ala214Thr) c.634G>A (p.Ala212Thr) | dbSNP gnomAD v2 |
11 | g.128839662C>A | CA477703273 | KCNJ1 | c.582G>T (p.Val194=) c.639G>T (p.Val213=) c.633G>T (p.Val211=) | |
11 | g.128839662C>G | CA477703274 | KCNJ1 | c.582G>C (p.Val194=) c.639G>C (p.Val213=) c.633G>C (p.Val211=) | |
11 | g.128839662C>T | CA477703275 | KCNJ1 | c.582G>A (p.Val194=) c.639G>A (p.Val213=) c.633G>A (p.Val211=) | |
11 | g.128839663A= | CA2008250764 | KCNJ1 | c.581T= (p.Val194=) c.638T= (p.Val213=) c.632T= (p.Val211=) | |
11 | g.128839663A>C | CA230628450 | KCNJ1 | c.581T>G (p.Val194Gly) c.638T>G (p.Val213Gly) c.632T>G (p.Val211Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839663A>G | CA383244716 | KCNJ1 | c.581T>C (p.Val194Ala) c.638T>C (p.Val213Ala) c.632T>C (p.Val211Ala) | gnomAD v4 |
11 | g.128839663A>T | CA383244717 | KCNJ1 | c.581T>A (p.Val194Glu) c.638T>A (p.Val213Glu) c.632T>A (p.Val211Glu) | |
11 | g.128839664C>A | CA383244718 | KCNJ1 | c.580G>T (p.Val194Leu) c.637G>T (p.Val213Leu) c.631G>T (p.Val211Leu) | |
11 | g.128839664C= | CA2008250775 | KCNJ1 | c.580G= (p.Val194=) c.637G= (p.Val213=) c.631G= (p.Val211=) | |
11 | g.128839664C>G | CA383244719 | KCNJ1 | c.580G>C (p.Val194Leu) c.637G>C (p.Val213Leu) c.631G>C (p.Val211Leu) | |
11 | g.128839664C>T | CA6357491 | KCNJ1 | c.580G>A (p.Val194Met) c.637G>A (p.Val213Met) c.631G>A (p.Val211Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839665T>A | CA477703279 | KCNJ1 | c.579A>T (p.Arg193=) c.636A>T (p.Arg212=) c.630A>T (p.Arg210=) | |
11 | g.128839665T>C | CA477703276 | KCNJ1 | c.579A>G (p.Arg193=) c.636A>G (p.Arg212=) c.630A>G (p.Arg210=) | |
11 | g.128839665T>G | CA477703277 | KCNJ1 | c.579A>C (p.Arg193=) c.636A>C (p.Arg212=) c.630A>C (p.Arg210=) | |
11 | g.128839666C>A | CA383244720 | KCNJ1 | c.578G>T (p.Arg193Leu) c.635G>T (p.Arg212Leu) c.629G>T (p.Arg210Leu) | |
11 | g.128839666C= | CA2008250784 | KCNJ1 | c.578G= (p.Arg193=) c.635G= (p.Arg212=) c.629G= (p.Arg210=) | |
11 | g.128839666C>G | CA230628472 | KCNJ1 | c.578G>C (p.Arg193Pro) c.635G>C (p.Arg212Pro) c.629G>C (p.Arg210Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839666C>T | CA6357492 | KCNJ1 | c.578G>A (p.Arg193Gln) c.635G>A (p.Arg212Gln) c.629G>A (p.Arg210Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839667G>A | CA6357493 | KCNJ1 | c.577C>T (p.Arg193Ter) c.634C>T (p.Arg212Ter) c.628C>T (p.Arg210Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839667G>C | CA383244721 | KCNJ1 | c.577C>G (p.Arg193Gly) c.634C>G (p.Arg212Gly) c.628C>G (p.Arg210Gly) | |
11 | g.128839667G= | CA2008250792 | KCNJ1 | c.577C= (p.Arg193=) c.634C= (p.Arg212=) c.628C= (p.Arg210=) | |
11 | g.128839667G>T | CA477703280 | KCNJ1 | c.577C>A (p.Arg193=) c.634C>A (p.Arg212=) c.628C>A (p.Arg210=) | |
11 | g.128839668G>A | CA477703281 | KCNJ1 | c.576C>T (p.Ile192=) c.633C>T (p.Ile211=) c.627C>T (p.Ile209=) | COSMIC |
11 | g.128839668G>C | CA383244722 | KCNJ1 | c.576C>G (p.Ile192Met) c.633C>G (p.Ile211Met) c.627C>G (p.Ile209Met) | |
11 | g.128839668G>T | CA477703282 | KCNJ1 | c.576C>A (p.Ile192=) c.633C>A (p.Ile211=) c.627C>A (p.Ile209=) | |
11 | g.128839669A>C | CA383244723 | KCNJ1 | c.575T>G (p.Ile192Ser) c.632T>G (p.Ile211Ser) c.626T>G (p.Ile209Ser) | ClinVar gnomAD v4 |
11 | g.128839669A>G | CA383244724 | KCNJ1 | c.575T>C (p.Ile192Thr) c.632T>C (p.Ile211Thr) c.626T>C (p.Ile209Thr) | |
11 | g.128839669A>T | CA383244725 | KCNJ1 | c.575T>A (p.Ile192Asn) c.632T>A (p.Ile211Asn) c.626T>A (p.Ile209Asn) | |
11 | g.128839670T>A | CA383244728 | KCNJ1 | c.574A>T (p.Ile192Phe) c.631A>T (p.Ile211Phe) c.625A>T (p.Ile209Phe) | |
11 | g.128839670T>C | CA383244726 | KCNJ1 | c.574A>G (p.Ile192Val) c.631A>G (p.Ile211Val) c.625A>G (p.Ile209Val) | |
11 | g.128839670T>G | CA383244727 | KCNJ1 | c.574A>C (p.Ile192Leu) c.631A>C (p.Ile211Leu) c.625A>C (p.Ile209Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839670T= | CA2008250798 | KCNJ1 | c.574A= (p.Ile192=) c.631A= (p.Ile211=) c.625A= (p.Ile209=) | |
11 | g.128839671T>A | CA477703285 | KCNJ1 | c.573A>T (p.Leu191=) c.630A>T (p.Leu210=) c.624A>T (p.Leu208=) | |
11 | g.128839671T>C | CA477703286 | KCNJ1 | c.573A>G (p.Leu191=) c.630A>G (p.Leu210=) c.624A>G (p.Leu208=) | |
11 | g.128839671T>G | CA477703287 | KCNJ1 | c.573A>C (p.Leu191=) c.630A>C (p.Leu210=) c.624A>C (p.Leu208=) | |
11 | g.128839672A>C | CA383244729 | KCNJ1 | c.572T>G (p.Leu191Arg) c.629T>G (p.Leu210Arg) c.623T>G (p.Leu208Arg) | |
11 | g.128839672A>G | CA383244730 | KCNJ1 | c.572T>C (p.Leu191Pro) c.629T>C (p.Leu210Pro) c.623T>C (p.Leu208Pro) | |
11 | g.128839672A>T | CA383244731 | KCNJ1 | c.572T>A (p.Leu191Gln) c.629T>A (p.Leu210Gln) c.623T>A (p.Leu208Gln) | |
11 | g.128839673G>A | CA477703288 | KCNJ1 | c.571C>T (p.Leu191=) c.628C>T (p.Leu210=) c.622C>T (p.Leu208=) | COSMIC |
11 | g.128839673G>C | CA383244732 | KCNJ1 | c.571C>G (p.Leu191Val) c.628C>G (p.Leu210Val) c.622C>G (p.Leu208Val) | |
11 | g.128839673G>T | CA383244733 | KCNJ1 | c.571C>A (p.Leu191Ile) c.628C>A (p.Leu210Ile) c.622C>A (p.Leu208Ile) | |
11 | g.128839674G>A | CA477703289 | KCNJ1 | c.570C>T (p.Leu190=) c.627C>T (p.Leu209=) c.621C>T (p.Leu207=) | gnomAD v4 |
11 | g.128839674G>C | CA477703290 | KCNJ1 | c.570C>G (p.Leu190=) c.627C>G (p.Leu209=) c.621C>G (p.Leu207=) | dbSNP |
11 | g.128839674G= | CA2008250803 | KCNJ1 | c.570C= (p.Leu190=) c.627C= (p.Leu209=) c.621C= (p.Leu207=) | |
11 | g.128839674G>T | CA477703291 | KCNJ1 | c.570C>A (p.Leu190=) c.627C>A (p.Leu209=) c.621C>A (p.Leu207=) | |
11 | g.128839675A>C | CA383244734 | KCNJ1 | c.569T>G (p.Leu190Arg) c.626T>G (p.Leu209Arg) c.620T>G (p.Leu207Arg) | |
11 | g.128839675A>G | CA383244736 | KCNJ1 | c.569T>C (p.Leu190Pro) c.626T>C (p.Leu209Pro) c.620T>C (p.Leu207Pro) | |
11 | g.128839675A>T | CA383244735 | KCNJ1 | c.569T>A (p.Leu190His) c.626T>A (p.Leu209His) c.620T>A (p.Leu207His) | |
11 | g.128839676G>A | CA6357494 | KCNJ1 | c.568C>T (p.Leu190Phe) c.625C>T (p.Leu209Phe) c.619C>T (p.Leu207Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839676G>C | CA383244737 | KCNJ1 | c.568C>G (p.Leu190Val) c.625C>G (p.Leu209Val) c.619C>G (p.Leu207Val) | |
11 | g.128839676G= | CA2008250818 | KCNJ1 | c.568C= (p.Leu190=) c.625C= (p.Leu209=) c.619C= (p.Leu207=) | |
11 | g.128839676G>T | CA383244738 | KCNJ1 | c.568C>A (p.Leu190Ile) c.625C>A (p.Leu209Ile) c.619C>A (p.Leu207Ile) | COSMIC |
11 | g.128839677G>A | CA477703294 | KCNJ1 | c.567C>T (p.Cys189=) c.624C>T (p.Cys208=) c.618C>T (p.Cys206=) | dbSNP gnomAD v4 |
11 | g.128839677G>C | CA383244739 | KCNJ1 | c.567C>G (p.Cys189Trp) c.624C>G (p.Cys208Trp) c.618C>G (p.Cys206Trp) | |
11 | g.128839677G= | CA2008250824 | KCNJ1 | c.567C= (p.Cys189=) c.624C= (p.Cys208=) c.618C= (p.Cys206=) | |
11 | g.128839677G>T | CA383244740 | KCNJ1 | c.567C>A (p.Cys189Ter) c.624C>A (p.Cys208Ter) c.618C>A (p.Cys206Ter) | |
11 | g.128839678C>A | CA383244741 | KCNJ1 | c.566G>T (p.Cys189Phe) c.623G>T (p.Cys208Phe) c.617G>T (p.Cys206Phe) | |
11 | g.128839678C= | CA2008250831 | KCNJ1 | c.566G= (p.Cys189=) c.623G= (p.Cys208=) c.617G= (p.Cys206=) | |
11 | g.128839678C>G | CA383244742 | KCNJ1 | c.566G>C (p.Cys189Ser) c.623G>C (p.Cys208Ser) c.617G>C (p.Cys206Ser) | dbSNP gnomAD v2 |
11 | g.128839678C>T | CA383244743 | KCNJ1 | c.566G>A (p.Cys189Tyr) c.623G>A (p.Cys208Tyr) c.617G>A (p.Cys206Tyr) | |
11 | g.128839679A>C | CA383244744 | KCNJ1 | c.565T>G (p.Cys189Gly) c.622T>G (p.Cys208Gly) c.616T>G (p.Cys206Gly) | |
11 | g.128839679A>G | CA383244745 | KCNJ1 | c.565T>C (p.Cys189Arg) c.622T>C (p.Cys208Arg) c.616T>C (p.Cys206Arg) | |
11 | g.128839679A>T | CA383244746 | KCNJ1 | c.565T>A (p.Cys189Ser) c.622T>A (p.Cys208Ser) c.616T>A (p.Cys206Ser) | |
11 | g.128839680A>C | CA477703295 | KCNJ1 | c.564T>G (p.Leu188=) c.621T>G (p.Leu207=) c.615T>G (p.Leu205=) | gnomAD v4 |
11 | g.128839680A>G | CA477703296 | KCNJ1 | c.564T>C (p.Leu188=) c.621T>C (p.Leu207=) c.615T>C (p.Leu205=) | |
11 | g.128839680A>T | CA477703297 | KCNJ1 | c.564T>A (p.Leu188=) c.621T>A (p.Leu207=) c.615T>A (p.Leu205=) | |
11 | g.128839681A>C | CA383244747 | KCNJ1 | c.563T>G (p.Leu188Arg) c.620T>G (p.Leu207Arg) c.614T>G (p.Leu205Arg) | |
11 | g.128839681A>G | CA383244749 | KCNJ1 | c.563T>C (p.Leu188Pro) c.620T>C (p.Leu207Pro) c.614T>C (p.Leu205Pro) | |
11 | g.128839681A>T | CA383244748 | KCNJ1 | c.563T>A (p.Leu188His) c.620T>A (p.Leu207His) c.614T>A (p.Leu205His) | |
11 | g.128839682G>A | CA383244750 | KCNJ1 | c.562C>T (p.Leu188Phe) c.619C>T (p.Leu207Phe) c.613C>T (p.Leu205Phe) | dbSNP gnomAD v4 |
11 | g.128839682G>C | CA383244752 | KCNJ1 | c.562C>G (p.Leu188Val) c.619C>G (p.Leu207Val) c.613C>G (p.Leu205Val) | |
11 | g.128839682G= | CA2008250835 | KCNJ1 | c.562C= (p.Leu188=) c.619C= (p.Leu207=) c.613C= (p.Leu205=) | |
11 | g.128839682G>T | CA383244751 | KCNJ1 | c.562C>A (p.Leu188Ile) c.619C>A (p.Leu207Ile) c.613C>A (p.Leu205Ile) | dbSNP |
11 | g.128839683C>A | CA6357496 | KCNJ1 | c.561G>T (p.Lys187Asn) c.618G>T (p.Lys206Asn) c.612G>T (p.Lys204Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.128839683C= | CA2008250843 | KCNJ1 | c.561G= (p.Lys187=) c.618G= (p.Lys206=) c.612G= (p.Lys204=) | |
11 | g.128839683C>G | CA383244753 | KCNJ1 | c.561G>C (p.Lys187Asn) c.618G>C (p.Lys206Asn) c.612G>C (p.Lys204Asn) | |
11 | g.128839683C>T | CA6357495 | KCNJ1 | c.561G>A (p.Lys187=) c.618G>A (p.Lys206=) c.612G>A (p.Lys204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839684T>A | CA383244754 | KCNJ1 | c.560A>T (p.Lys187Met) c.617A>T (p.Lys206Met) c.611A>T (p.Lys204Met) | |
11 | g.128839684T>C | CA383244755 | KCNJ1 | c.560A>G (p.Lys187Arg) c.617A>G (p.Lys206Arg) c.611A>G (p.Lys204Arg) | |
11 | g.128839684T>G | CA383244756 | KCNJ1 | c.560A>C (p.Lys187Thr) c.617A>C (p.Lys206Thr) c.611A>C (p.Lys204Thr) | |
11 | g.128839685T>A | CA383244757 | KCNJ1 | c.559A>T (p.Lys187Ter) c.616A>T (p.Lys206Ter) c.610A>T (p.Lys204Ter) | |
11 | g.128839685T>C | CA383244758 | KCNJ1 | c.559A>G (p.Lys187Glu) c.616A>G (p.Lys206Glu) c.610A>G (p.Lys204Glu) | |
11 | g.128839685T>G | CA383244759 | KCNJ1 | c.559A>C (p.Lys187Gln) c.616A>C (p.Lys206Gln) c.610A>C (p.Lys204Gln) | |
11 | g.128839686C>A | CA477703301 | KCNJ1 | c.558G>T (p.Gly186=) c.615G>T (p.Gly205=) c.609G>T (p.Gly203=) | |
11 | g.128839686C>G | CA477703299 | KCNJ1 | c.558G>C (p.Gly186=) c.615G>C (p.Gly205=) c.609G>C (p.Gly203=) | |
11 | g.128839686C>T | CA477703300 | KCNJ1 | c.558G>A (p.Gly186=) c.615G>A (p.Gly205=) c.609G>A (p.Gly203=) | |
11 | g.128839686_128839687insTGAAGACCACAGT | CA2539254176 | KCNJ1 | c.557_558insACTGTGGTCTTCA (p.Lys187LeufsTer14) c.614_615insACTGTGGTCTTCA (p.Lys206LeufsTer14) c.608_609insACTGTGGTCTTCA (p.Lys204LeufsTer14) | |
11 | g.128839687C>A | CA383244760 | KCNJ1 | c.557G>T (p.Gly186Val) c.614G>T (p.Gly205Val) c.608G>T (p.Gly203Val) | gnomAD v4 |
11 | g.128839687C>G | CA383244761 | KCNJ1 | c.557G>C (p.Gly186Ala) c.614G>C (p.Gly205Ala) c.608G>C (p.Gly203Ala) | |
11 | g.128839687C>T | CA383244762 | KCNJ1 | c.557G>A (p.Gly186Glu) c.614G>A (p.Gly205Glu) c.608G>A (p.Gly203Glu) | |
11 | g.128839688C>A | CA383244765 | KCNJ1 | c.556G>T (p.Gly186Trp) c.613G>T (p.Gly205Trp) c.607G>T (p.Gly203Trp) | dbSNP |
11 | g.128839688C= | CA2008250844 | KCNJ1 | c.556G= (p.Gly186=) c.613G= (p.Gly205=) c.607G= (p.Gly203=) | |
11 | g.128839688C>G | CA383244763 | KCNJ1 | c.556G>C (p.Gly186Arg) c.613G>C (p.Gly205Arg) c.607G>C (p.Gly203Arg) | |
11 | g.128839688C>T | CA383244764 | KCNJ1 | c.556G>A (p.Gly186Arg) c.613G>A (p.Gly205Arg) c.607G>A (p.Gly203Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839689T>A | CA477703302 | KCNJ1 | c.555A>T (p.Gly185=) c.612A>T (p.Gly204=) c.606A>T (p.Gly202=) | dbSNP |
11 | g.128839689T>C | CA477703303 | KCNJ1 | c.555A>G (p.Gly185=) c.612A>G (p.Gly204=) c.606A>G (p.Gly202=) | |
11 | g.128839689T>G | CA477703304 | KCNJ1 | c.555A>C (p.Gly185=) c.612A>C (p.Gly204=) c.606A>C (p.Gly202=) | |
11 | g.128839690C>A | CA383244766 | KCNJ1 | c.554G>T (p.Gly185Val) c.611G>T (p.Gly204Val) c.605G>T (p.Gly202Val) | dbSNP |
11 | g.128839690C= | CA2008250849 | KCNJ1 | c.554G= (p.Gly185=) c.611G= (p.Gly204=) c.605G= (p.Gly202=) | |
11 | g.128839690C>G | CA383244767 | KCNJ1 | c.554G>C (p.Gly185Ala) c.611G>C (p.Gly204Ala) c.605G>C (p.Gly202Ala) | |
11 | g.128839690C>T | CA383244768 | KCNJ1 | c.554G>A (p.Gly185Glu) c.611G>A (p.Gly204Glu) c.605G>A (p.Gly202Glu) | gnomAD v4 |
11 | g.128839691C>A | CA383244769 | KCNJ1 | c.553G>T (p.Gly185Ter) c.610G>T (p.Gly204Ter) c.604G>T (p.Gly202Ter) | gnomAD v4 |
11 | g.128839691C>G | CA383244770 | KCNJ1 | c.553G>C (p.Gly185Arg) c.610G>C (p.Gly204Arg) c.604G>C (p.Gly202Arg) | |
11 | g.128839691C>T | CA383244771 | KCNJ1 | c.553G>A (p.Gly185Arg) c.610G>A (p.Gly204Arg) c.604G>A (p.Gly202Arg) | |
11 | g.128839692C>A | CA230628505 | KCNJ1 | c.552G>T (p.Arg184=) c.609G>T (p.Arg203=) c.603G>T (p.Arg201=) | dbSNP |
11 | g.128839692C= | CA2008250852 | KCNJ1 | c.552G= (p.Arg184=) c.609G= (p.Arg203=) c.603G= (p.Arg201=) | |
11 | g.128839692C>G | CA477703305 | KCNJ1 | c.552G>C (p.Arg184=) c.609G>C (p.Arg203=) c.603G>C (p.Arg201=) | |
11 | g.128839692C>T | CA477703306 | KCNJ1 | c.552G>A (p.Arg184=) c.609G>A (p.Arg203=) c.603G>A (p.Arg201=) | |
11 | g.128839693C>A | CA383244772 | KCNJ1 | c.551G>T (p.Arg184Leu) c.608G>T (p.Arg203Leu) c.602G>T (p.Arg201Leu) | |
11 | g.128839693C= | CA2008250861 | KCNJ1 | c.551G= (p.Arg184=) c.608G= (p.Arg203=) c.602G= (p.Arg201=) | |
11 | g.128839693C>G | CA383244773 | KCNJ1 | c.551G>C (p.Arg184Pro) c.608G>C (p.Arg203Pro) c.602G>C (p.Arg201Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839693C>T | CA383244774 | KCNJ1 | c.551G>A (p.Arg184Gln) c.608G>A (p.Arg203Gln) c.602G>A (p.Arg201Gln) | ClinVar dbSNP gnomAD v4 |
11 | g.128839693_128839694delinsCG | CA2008250860 | KCNJ1 | c.550_551delinsCG (p.Arg184=) c.607_608delinsCG (p.Arg203=) c.601_602delinsCG (p.Arg201=) | |
11 | g.128839694del | CA2008250866 | KCNJ1 | c.550del (p.Arg184GlyfsTer8) c.607del (p.Arg203GlyfsTer8) c.601del (p.Arg201GlyfsTer8) | dbSNP gnomAD v4 |
11 | g.128839694G>A | CA6357497 | KCNJ1 | c.550C>T (p.Arg184Trp) c.607C>T (p.Arg203Trp) c.601C>T (p.Arg201Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839694G>C | CA230628508 | KCNJ1 | c.550C>G (p.Arg184Gly) c.607C>G (p.Arg203Gly) c.601C>G (p.Arg201Gly) | dbSNP |
11 | g.128839694G= | CA2008250867 | KCNJ1 | c.550C= (p.Arg184=) c.607C= (p.Arg203=) c.601C= (p.Arg201=) | |
11 | g.128839694G>T | CA477703308 | KCNJ1 | c.550C>A (p.Arg184=) c.607C>A (p.Arg203=) c.601C>A (p.Arg201=) | |
11 | g.128839695T>A | CA383244775 | KCNJ1 | c.549A>T (p.Lys183Asn) c.606A>T (p.Lys202Asn) c.600A>T (p.Lys200Asn) | |
11 | g.128839695T>C | CA477703309 | KCNJ1 | c.549A>G (p.Lys183=) c.606A>G (p.Lys202=) c.600A>G (p.Lys200=) | dbSNP gnomAD v2 |
11 | g.128839695T>G | CA383244776 | KCNJ1 | c.549A>C (p.Lys183Asn) c.606A>C (p.Lys202Asn) c.600A>C (p.Lys200Asn) | |
11 | g.128839695T= | CA2008250873 | KCNJ1 | c.549A= (p.Lys183=) c.606A= (p.Lys202=) c.600A= (p.Lys200=) | |
11 | g.128839696T>A | CA383244777 | KCNJ1 | c.548A>T (p.Lys183Ile) c.605A>T (p.Lys202Ile) c.599A>T (p.Lys200Ile) | |
11 | g.128839696T>C | CA383244778 | KCNJ1 | c.548A>G (p.Lys183Arg) c.605A>G (p.Lys202Arg) c.599A>G (p.Lys200Arg) | |
11 | g.128839696T>G | CA383244779 | KCNJ1 | c.548A>C (p.Lys183Thr) c.605A>C (p.Lys202Thr) c.599A>C (p.Lys200Thr) | |
11 | g.128839697T>A | CA383244780 | KCNJ1 | c.547A>T (p.Lys183Ter) c.604A>T (p.Lys202Ter) c.598A>T (p.Lys200Ter) | |
11 | g.128839697T>C | CA6357498 | KCNJ1 | c.547A>G (p.Lys183Glu) c.604A>G (p.Lys202Glu) c.598A>G (p.Lys200Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839697T>G | CA383244781 | KCNJ1 | c.547A>C (p.Lys183Gln) c.604A>C (p.Lys202Gln) c.598A>C (p.Lys200Gln) | |
11 | g.128839697T= | CA2008250879 | KCNJ1 | c.547A= (p.Lys183=) c.604A= (p.Lys202=) c.598A= (p.Lys200=) | |
11 | g.128839698G>A | CA477703311 | KCNJ1 | c.546C>T (p.Ser182=) c.603C>T (p.Ser201=) c.597C>T (p.Ser199=) | |
11 | g.128839698G>C | CA383244782 | KCNJ1 | c.546C>G (p.Ser182Arg) c.603C>G (p.Ser201Arg) c.597C>G (p.Ser199Arg) | |
11 | g.128839698G>T | CA383244783 | KCNJ1 | c.546C>A (p.Ser182Arg) c.603C>A (p.Ser201Arg) c.597C>A (p.Ser199Arg) | |
11 | g.128839699C>A | CA383244784 | KCNJ1 | c.545G>T (p.Ser182Ile) c.602G>T (p.Ser201Ile) c.596G>T (p.Ser199Ile) | |
11 | g.128839699C>G | CA383244785 | KCNJ1 | c.545G>C (p.Ser182Thr) c.602G>C (p.Ser201Thr) c.596G>C (p.Ser199Thr) | |
11 | g.128839699C>T | CA383244786 | KCNJ1 | c.545G>A (p.Ser182Asn) c.602G>A (p.Ser201Asn) c.596G>A (p.Ser199Asn) | |
11 | g.128839700T>A | CA383244787 | KCNJ1 | c.544A>T (p.Ser182Cys) c.601A>T (p.Ser201Cys) c.595A>T (p.Ser199Cys) | |
11 | g.128839700T>C | CA383244788 | KCNJ1 | c.544A>G (p.Ser182Gly) c.601A>G (p.Ser201Gly) c.595A>G (p.Ser199Gly) | gnomAD v4 |
11 | g.128839700T>G | CA383244789 | KCNJ1 | c.544A>C (p.Ser182Arg) c.601A>C (p.Ser201Arg) c.595A>C (p.Ser199Arg) | |
11 | g.128839701G>A | CA477703312 | KCNJ1 | c.543C>T (p.Ile181=) c.600C>T (p.Ile200=) c.594C>T (p.Ile198=) | |
11 | g.128839701G>C | CA383244790 | KCNJ1 | c.543C>G (p.Ile181Met) c.600C>G (p.Ile200Met) c.594C>G (p.Ile198Met) | |
11 | g.128839701G>T | CA477703313 | KCNJ1 | c.543C>A (p.Ile181=) c.600C>A (p.Ile200=) c.594C>A (p.Ile198=) | |
11 | g.128839702A>C | CA383244791 | KCNJ1 | c.542T>G (p.Ile181Ser) c.599T>G (p.Ile200Ser) c.593T>G (p.Ile198Ser) | |
11 | g.128839702A>G | CA383244792 | KCNJ1 | c.542T>C (p.Ile181Thr) c.599T>C (p.Ile200Thr) c.593T>C (p.Ile198Thr) | |
11 | g.128839702A>T | CA383244793 | KCNJ1 | c.542T>A (p.Ile181Asn) c.599T>A (p.Ile200Asn) c.593T>A (p.Ile198Asn) | |
11 | g.128839703T>A | CA383244794 | KCNJ1 | c.541A>T (p.Ile181Phe) c.598A>T (p.Ile200Phe) c.592A>T (p.Ile198Phe) | |
11 | g.128839703T>C | CA383244795 | KCNJ1 | c.541A>G (p.Ile181Val) c.598A>G (p.Ile200Val) c.592A>G (p.Ile198Val) | gnomAD v4 |
11 | g.128839703T>G | CA383244796 | KCNJ1 | c.541A>C (p.Ile181Leu) c.598A>C (p.Ile200Leu) c.592A>C (p.Ile198Leu) | |
11 | g.128839704C>A | CA477703314 | KCNJ1 | c.540G>T (p.Val180=) c.597G>T (p.Val199=) c.591G>T (p.Val197=) | |
11 | g.128839704C= | CA2008250884 | KCNJ1 | c.540G= (p.Val180=) c.597G= (p.Val199=) c.591G= (p.Val197=) | |
11 | g.128839704C>G | CA477703315 | KCNJ1 | c.540G>C (p.Val180=) c.597G>C (p.Val199=) c.591G>C (p.Val197=) | |
11 | g.128839704C>T | CA477703316 | KCNJ1 | c.540G>A (p.Val180=) c.597G>A (p.Val199=) c.591G>A (p.Val197=) | ClinVar dbSNP gnomAD v4 |
11 | g.128839705A>C | CA383244797 | KCNJ1 | c.539T>G (p.Val180Gly) c.596T>G (p.Val199Gly) c.590T>G (p.Val197Gly) | gnomAD v4 |
11 | g.128839705A>G | CA383244798 | KCNJ1 | c.539T>C (p.Val180Ala) c.596T>C (p.Val199Ala) c.590T>C (p.Val197Ala) | gnomAD v4 |
11 | g.128839705A>T | CA383244799 | KCNJ1 | c.539T>A (p.Val180Glu) c.596T>A (p.Val199Glu) c.590T>A (p.Val197Glu) | |
11 | g.128839706C>A | CA383244800 | KCNJ1 | c.538G>T (p.Val180Leu) c.595G>T (p.Val199Leu) c.589G>T (p.Val197Leu) | |
11 | g.128839706C>G | CA383244801 | KCNJ1 | c.538G>C (p.Val180Leu) c.595G>C (p.Val199Leu) c.589G>C (p.Val197Leu) | |
11 | g.128839706C>T | CA383244802 | KCNJ1 | c.538G>A (p.Val180Met) c.595G>A (p.Val199Met) c.589G>A (p.Val197Met) | |
11 | g.128839707T>A | CA477703317 | KCNJ1 | c.537A>T (p.Ala179=) c.594A>T (p.Ala198=) c.588A>T (p.Ala196=) | |
11 | g.128839707T>C | CA477703318 | KCNJ1 | c.537A>G (p.Ala179=) c.594A>G (p.Ala198=) c.588A>G (p.Ala196=) | |
11 | g.128839707T>G | CA477703319 | KCNJ1 | c.537A>C (p.Ala179=) c.594A>C (p.Ala198=) c.588A>C (p.Ala196=) | gnomAD v4 COSMIC |
11 | g.128839708G>A | CA383244803 | KCNJ1 | c.536C>T (p.Ala179Val) c.593C>T (p.Ala198Val) c.587C>T (p.Ala196Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839708G>C | CA383244805 | KCNJ1 | c.536C>G (p.Ala179Gly) c.593C>G (p.Ala198Gly) c.587C>G (p.Ala196Gly) | |
11 | g.128839708G= | CA2008250889 | KCNJ1 | c.536C= (p.Ala179=) c.593C= (p.Ala198=) c.587C= (p.Ala196=) | |
11 | g.128839708G>T | CA383244804 | KCNJ1 | c.536C>A (p.Ala179Glu) c.593C>A (p.Ala198Glu) c.587C>A (p.Ala196Glu) | |
11 | g.128839709C>A | CA230628532 | KCNJ1 | c.535G>T (p.Ala179Ser) c.592G>T (p.Ala198Ser) c.586G>T (p.Ala196Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.128839709C= | CA2008250894 | KCNJ1 | c.535G= (p.Ala179=) c.592G= (p.Ala198=) c.586G= (p.Ala196=) | |
11 | g.128839709C>G | CA383244806 | KCNJ1 | c.535G>C (p.Ala179Pro) c.592G>C (p.Ala198Pro) c.586G>C (p.Ala196Pro) | |
11 | g.128839709C>T | CA120158 | KCNJ1 | c.535G>A (p.Ala179Thr) c.592G>A (p.Ala198Thr) c.586G>A (p.Ala196Thr) | ClinVar dbSNP gnomAD v4 COSMIC |
11 | g.128839710G>A | CA6357499 | KCNJ1 | c.534C>T (p.Asn178=) c.591C>T (p.Asn197=) c.585C>T (p.Asn195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839710G>C | CA383244807 | KCNJ1 | c.534C>G (p.Asn178Lys) c.591C>G (p.Asn197Lys) c.585C>G (p.Asn195Lys) | |
11 | g.128839710G= | CA2008250909 | KCNJ1 | c.534C= (p.Asn178=) c.591C= (p.Asn197=) c.585C= (p.Asn195=) | |
11 | g.128839710G>T | CA6357500 | KCNJ1 | c.534C>A (p.Asn178Lys) c.591C>A (p.Asn197Lys) c.585C>A (p.Asn195Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839711T>A | CA383244808 | KCNJ1 | c.533A>T (p.Asn178Ile) c.590A>T (p.Asn197Ile) c.584A>T (p.Asn195Ile) | |
11 | g.128839711T>C | CA383244810 | KCNJ1 | c.533A>G (p.Asn178Ser) c.590A>G (p.Asn197Ser) c.584A>G (p.Asn195Ser) | |
11 | g.128839711T>G | CA383244809 | KCNJ1 | c.533A>C (p.Asn178Thr) c.590A>C (p.Asn197Thr) c.584A>C (p.Asn195Thr) | |
11 | g.128839712T>A | CA383244811 | KCNJ1 | c.532A>T (p.Asn178Tyr) c.589A>T (p.Asn197Tyr) c.583A>T (p.Asn195Tyr) | |
11 | g.128839712T>C | CA6357501 | KCNJ1 | c.532A>G (p.Asn178Asp) c.589A>G (p.Asn197Asp) c.583A>G (p.Asn195Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839712T>G | CA383244812 | KCNJ1 | c.532A>C (p.Asn178His) c.589A>C (p.Asn197His) c.583A>C (p.Asn195His) | |
11 | g.128839712T= | CA2008250916 | KCNJ1 | c.532A= (p.Asn178=) c.589A= (p.Asn197=) c.583A= (p.Asn195=) | |
11 | g.128839713C>A | CA383244813 | KCNJ1 | c.531G>T (p.Lys177Asn) c.588G>T (p.Lys196Asn) c.582G>T (p.Lys194Asn) | |
11 | g.128839713C= | CA2008250919 | KCNJ1 | c.531G= (p.Lys177=) c.588G= (p.Lys196=) c.582G= (p.Lys194=) | |
11 | g.128839713C>G | CA383244814 | KCNJ1 | c.531G>C (p.Lys177Asn) c.588G>C (p.Lys196Asn) c.582G>C (p.Lys194Asn) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839713C>T | CA477703323 | KCNJ1 | c.531G>A (p.Lys177=) c.588G>A (p.Lys196=) c.582G>A (p.Lys194=) | |
11 | g.128839714T>A | CA383244815 | KCNJ1 | c.530A>T (p.Lys177Met) c.587A>T (p.Lys196Met) c.581A>T (p.Lys194Met) | |
11 | g.128839714T>C | CA383244816 | KCNJ1 | c.530A>G (p.Lys177Arg) c.587A>G (p.Lys196Arg) c.581A>G (p.Lys194Arg) | gnomAD v4 |
11 | g.128839714T>G | CA383244817 | KCNJ1 | c.530A>C (p.Lys177Thr) c.587A>C (p.Lys196Thr) c.581A>C (p.Lys194Thr) | |
11 | g.128839715T>A | CA383244818 | KCNJ1 | c.529A>T (p.Lys177Ter) c.586A>T (p.Lys196Ter) c.580A>T (p.Lys194Ter) | |
11 | g.128839715T>C | CA383244819 | KCNJ1 | c.529A>G (p.Lys177Glu) c.586A>G (p.Lys196Glu) c.580A>G (p.Lys194Glu) | |
11 | g.128839715T>G | CA383244820 | KCNJ1 | c.529A>C (p.Lys177Gln) c.586A>C (p.Lys196Gln) c.580A>C (p.Lys194Gln) | |
11 | g.128839716G>A | CA477703324 | KCNJ1 | c.528C>T (p.Ser176=) c.585C>T (p.Ser195=) c.579C>T (p.Ser193=) | |
11 | g.128839716G>C | CA383244821 | KCNJ1 | c.528C>G (p.Ser176Arg) c.585C>G (p.Ser195Arg) c.579C>G (p.Ser193Arg) | |
11 | g.128839716G>T | CA383244822 | KCNJ1 | c.528C>A (p.Ser176Arg) c.585C>A (p.Ser195Arg) c.579C>A (p.Ser193Arg) | |
11 | g.128839717C>A | CA383244825 | KCNJ1 | c.527G>T (p.Ser176Ile) c.584G>T (p.Ser195Ile) c.578G>T (p.Ser193Ile) | |
11 | g.128839717C>G | CA383244824 | KCNJ1 | c.527G>C (p.Ser176Thr) c.584G>C (p.Ser195Thr) c.578G>C (p.Ser193Thr) | |
11 | g.128839717C>T | CA383244823 | KCNJ1 | c.527G>A (p.Ser176Asn) c.584G>A (p.Ser195Asn) c.578G>A (p.Ser193Asn) | |
11 | g.128839717_128839718delinsCT | CA2008250921 | KCNJ1 | c.526_527delinsAG (p.Ser176=) c.583_584delinsAG (p.Ser195=) c.577_578delinsAG (p.Ser193=) | |
11 | g.128839718del | CA943454851 | KCNJ1 | c.526del (p.Ser176AlafsTer5) c.583del (p.Ser195AlafsTer5) c.577del (p.Ser193AlafsTer5) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839718T>A | CA383244826 | KCNJ1 | c.526A>T (p.Ser176Cys) c.583A>T (p.Ser195Cys) c.577A>T (p.Ser193Cys) | |
11 | g.128839718T>C | CA383244827 | KCNJ1 | c.526A>G (p.Ser176Gly) c.583A>G (p.Ser195Gly) c.577A>G (p.Ser193Gly) | |
11 | g.128839718T>G | CA383244828 | KCNJ1 | c.526A>C (p.Ser176Arg) c.583A>C (p.Ser195Arg) c.577A>C (p.Ser193Arg) | gnomAD v4 |
11 | g.128839719G>A | CA477703328 | KCNJ1 | c.525C>T (p.Phe175=) c.582C>T (p.Phe194=) c.576C>T (p.Phe192=) | |
11 | g.128839719G>C | CA383244829 | KCNJ1 | c.525C>G (p.Phe175Leu) c.582C>G (p.Phe194Leu) c.576C>G (p.Phe192Leu) | |
11 | g.128839719G>T | CA383244830 | KCNJ1 | c.525C>A (p.Phe175Leu) c.582C>A (p.Phe194Leu) c.576C>A (p.Phe192Leu) | |
11 | g.128839720A= | CA2008250928 | KCNJ1 | c.524T= (p.Phe175=) c.581T= (p.Phe194=) c.575T= (p.Phe192=) | |
11 | g.128839720A>C | CA383244831 | KCNJ1 | c.524T>G (p.Phe175Cys) c.581T>G (p.Phe194Cys) c.575T>G (p.Phe192Cys) | |
11 | g.128839720A>G | CA383244832 | KCNJ1 | c.524T>C (p.Phe175Ser) c.581T>C (p.Phe194Ser) c.575T>C (p.Phe192Ser) | dbSNP gnomAD v4 |
11 | g.128839720A>T | CA383244833 | KCNJ1 | c.524T>A (p.Phe175Tyr) c.581T>A (p.Phe194Tyr) c.575T>A (p.Phe192Tyr) | |
11 | g.128839721A>C | CA383244834 | KCNJ1 | c.523T>G (p.Phe175Val) c.580T>G (p.Phe194Val) c.574T>G (p.Phe192Val) | |
11 | g.128839721A>G | CA383244835 | KCNJ1 | c.523T>C (p.Phe175Leu) c.580T>C (p.Phe194Leu) c.574T>C (p.Phe192Leu) | |
11 | g.128839721A>T | CA383244836 | KCNJ1 | c.523T>A (p.Phe175Ile) c.580T>A (p.Phe194Ile) c.574T>A (p.Phe192Ile) | |
11 | g.128839722C>A | CA477703331 | KCNJ1 | c.522G>T (p.Thr174=) c.579G>T (p.Thr193=) c.573G>T (p.Thr191=) | |
11 | g.128839722C= | CA2008250939 | KCNJ1 | c.522G= (p.Thr174=) c.579G= (p.Thr193=) c.573G= (p.Thr191=) | |
11 | g.128839722C>G | CA477703332 | KCNJ1 | c.522G>C (p.Thr174=) c.579G>C (p.Thr193=) c.573G>C (p.Thr191=) | ClinVar gnomAD v3 gnomAD v4 |
11 | g.128839722C>T | CA6357502 | KCNJ1 | c.522G>A (p.Thr174=) c.579G>A (p.Thr193=) c.573G>A (p.Thr191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839723G>A | CA6357503 | KCNJ1 | c.521C>T (p.Thr174Met) c.578C>T (p.Thr193Met) c.572C>T (p.Thr191Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839723G>C | CA383244837 | KCNJ1 | c.521C>G (p.Thr174Arg) c.578C>G (p.Thr193Arg) c.572C>G (p.Thr191Arg) | |
11 | g.128839723G= | CA2008250951 | KCNJ1 | c.521C= (p.Thr174=) c.578C= (p.Thr193=) c.572C= (p.Thr191=) | |
11 | g.128839723G>T | CA383244838 | KCNJ1 | c.521C>A (p.Thr174Lys) c.578C>A (p.Thr193Lys) c.572C>A (p.Thr191Lys) | gnomAD v4 |
11 | g.128839724T>A | CA383244839 | KCNJ1 | c.520A>T (p.Thr174Ser) c.577A>T (p.Thr193Ser) c.571A>T (p.Thr191Ser) | |
11 | g.128839724T>C | CA383244840 | KCNJ1 | c.520A>G (p.Thr174Ala) c.577A>G (p.Thr193Ala) c.571A>G (p.Thr191Ala) | |
11 | g.128839724T>G | CA383244841 | KCNJ1 | c.520A>C (p.Thr174Pro) c.577A>C (p.Thr193Pro) c.571A>C (p.Thr191Pro) | |
11 | g.128839725A>C | CA383244842 | KCNJ1 | c.519T>G (p.Ile173Met) c.576T>G (p.Ile192Met) c.570T>G (p.Ile190Met) | gnomAD v4 |
11 | g.128839725A>G | CA477703334 | KCNJ1 | c.519T>C (p.Ile173=) c.576T>C (p.Ile192=) c.570T>C (p.Ile190=) | |
11 | g.128839725A>T | CA477703336 | KCNJ1 | c.519T>A (p.Ile173=) c.576T>A (p.Ile192=) c.570T>A (p.Ile190=) | |
11 | g.128839726A>C | CA383244843 | KCNJ1 | c.518T>G (p.Ile173Ser) c.575T>G (p.Ile192Ser) c.569T>G (p.Ile190Ser) | |
11 | g.128839726A>G | CA383244844 | KCNJ1 | c.518T>C (p.Ile173Thr) c.575T>C (p.Ile192Thr) c.569T>C (p.Ile190Thr) | |
11 | g.128839726A>T | CA383244845 | KCNJ1 | c.518T>A (p.Ile173Asn) c.575T>A (p.Ile192Asn) c.569T>A (p.Ile190Asn) | |
11 | g.128839727T>A | CA383244846 | KCNJ1 | c.517A>T (p.Ile173Phe) c.574A>T (p.Ile192Phe) c.568A>T (p.Ile190Phe) | COSMIC |
11 | g.128839727T>C | CA383244847 | KCNJ1 | c.517A>G (p.Ile173Val) c.574A>G (p.Ile192Val) c.568A>G (p.Ile190Val) | gnomAD v4 |
11 | g.128839727T>G | CA383244848 | KCNJ1 | c.517A>C (p.Ile173Leu) c.574A>C (p.Ile192Leu) c.568A>C (p.Ile190Leu) | |
11 | g.128839728G>A | CA477703337 | KCNJ1 | c.516C>T (p.Thr172=) c.573C>T (p.Thr191=) c.567C>T (p.Thr189=) | gnomAD v4 COSMIC |
11 | g.128839728G>C | CA477703338 | KCNJ1 | c.516C>G (p.Thr172=) c.573C>G (p.Thr191=) c.567C>G (p.Thr189=) | |
11 | g.128839728G>T | CA477703339 | KCNJ1 | c.516C>A (p.Thr172=) c.573C>A (p.Thr191=) c.567C>A (p.Thr189=) | |
11 | g.128839729G>A | CA383244851 | KCNJ1 | c.515C>T (p.Thr172Ile) c.572C>T (p.Thr191Ile) c.566C>T (p.Thr189Ile) | gnomAD v4 |
11 | g.128839729G>C | CA383244849 | KCNJ1 | c.515C>G (p.Thr172Ser) c.572C>G (p.Thr191Ser) c.566C>G (p.Thr189Ser) | |
11 | g.128839729G>T | CA383244850 | KCNJ1 | c.515C>A (p.Thr172Asn) c.572C>A (p.Thr191Asn) c.566C>A (p.Thr189Asn) | |
11 | g.128839730T>A | CA383244852 | KCNJ1 | c.514A>T (p.Thr172Ser) c.571A>T (p.Thr191Ser) c.565A>T (p.Thr189Ser) | |
11 | g.128839730T>C | CA230628564 | KCNJ1 | c.514A>G (p.Thr172Ala) c.571A>G (p.Thr191Ala) c.565A>G (p.Thr189Ala) | dbSNP gnomAD v4 |
11 | g.128839730T>G | CA383244853 | KCNJ1 | c.514A>C (p.Thr172Pro) c.571A>C (p.Thr191Pro) c.565A>C (p.Thr189Pro) | ClinVar |
11 | g.128839730T= | CA2008250959 | KCNJ1 | c.514A= (p.Thr172=) c.571A= (p.Thr191=) c.565A= (p.Thr189=) | |
11 | g.128839731C>A | CA383244854 | KCNJ1 | c.513G>T (p.Lys171Asn) c.570G>T (p.Lys190Asn) c.564G>T (p.Lys188Asn) | ClinVar |
11 | g.128839731C>G | CA383244855 | KCNJ1 | c.513G>C (p.Lys171Asn) c.570G>C (p.Lys190Asn) c.564G>C (p.Lys188Asn) | |
11 | g.128839731C>T | CA477703343 | KCNJ1 | c.513G>A (p.Lys171=) c.570G>A (p.Lys190=) c.564G>A (p.Lys188=) | |
11 | g.128839732T>A | CA383244856 | KCNJ1 | c.512A>T (p.Lys171Met) c.569A>T (p.Lys190Met) c.563A>T (p.Lys188Met) | |
11 | g.128839732T>C | CA383244857 | KCNJ1 | c.512A>G (p.Lys171Arg) c.569A>G (p.Lys190Arg) c.563A>G (p.Lys188Arg) | |
11 | g.128839732T>G | CA383244858 | KCNJ1 | c.512A>C (p.Lys171Thr) c.569A>C (p.Lys190Thr) c.563A>C (p.Lys188Thr) |