Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839860C>A | CA383245475 | KCNJ1 | c.384G>T (p.Arg128Ser) c.441G>T (p.Arg147Ser) c.435G>T (p.Arg145Ser) | |
11 | g.128839860C>G | CA383245478 | KCNJ1 | c.384G>C (p.Arg128Ser) c.441G>C (p.Arg147Ser) c.435G>C (p.Arg145Ser) | |
11 | g.128839860C>T | CA477703549 | KCNJ1 | c.384G>A (p.Arg128=) c.441G>A (p.Arg147=) c.435G>A (p.Arg145=) | |
11 | g.128839861C>A | CA383245483 | KCNJ1 | c.383G>T (p.Arg128Met) c.440G>T (p.Arg147Met) c.434G>T (p.Arg145Met) | |
11 | g.128839861C>G | CA383245480 | KCNJ1 | c.383G>C (p.Arg128Thr) c.440G>C (p.Arg147Thr) c.434G>C (p.Arg145Thr) | |
11 | g.128839861C>T | CA383245479 | KCNJ1 | c.383G>A (p.Arg128Lys) c.440G>A (p.Arg147Lys) c.434G>A (p.Arg145Lys) | gnomAD v4 |
11 | g.128839862T>A | CA383245485 | KCNJ1 | c.382A>T (p.Arg128Trp) c.439A>T (p.Arg147Trp) c.433A>T (p.Arg145Trp) | |
11 | g.128839862T>C | CA383245487 | KCNJ1 | c.382A>G (p.Arg128Gly) c.439A>G (p.Arg147Gly) c.433A>G (p.Arg145Gly) | |
11 | g.128839862T>G | CA477703553 | KCNJ1 | c.382A>C (p.Arg128=) c.439A>C (p.Arg147=) c.433A>C (p.Arg145=) | |
11 | g.128839863G>A | CA477703554 | KCNJ1 | c.381C>T (p.Phe127=) c.438C>T (p.Phe146=) c.432C>T (p.Phe144=) | |
11 | g.128839863G>C | CA383245490 | KCNJ1 | c.381C>G (p.Phe127Leu) c.438C>G (p.Phe146Leu) c.432C>G (p.Phe144Leu) | |
11 | g.128839863G>T | CA383245492 | KCNJ1 | c.381C>A (p.Phe127Leu) c.438C>A (p.Phe146Leu) c.432C>A (p.Phe144Leu) | gnomAD v4 |
11 | g.128839864A>C | CA383245495 | KCNJ1 | c.380T>G (p.Phe127Cys) c.437T>G (p.Phe146Cys) c.431T>G (p.Phe144Cys) | |
11 | g.128839864A>G | CA383245500 | KCNJ1 | c.380T>C (p.Phe127Ser) c.437T>C (p.Phe146Ser) c.431T>C (p.Phe144Ser) | |
11 | g.128839864A>T | CA383245503 | KCNJ1 | c.380T>A (p.Phe127Tyr) c.437T>A (p.Phe146Tyr) c.431T>A (p.Phe144Tyr) | |
11 | g.128839865A>C | CA383245513 | KCNJ1 | c.379T>G (p.Phe127Val) c.436T>G (p.Phe146Val) c.430T>G (p.Phe144Val) | |
11 | g.128839865A>G | CA383245515 | KCNJ1 | c.379T>C (p.Phe127Leu) c.436T>C (p.Phe146Leu) c.430T>C (p.Phe144Leu) | |
11 | g.128839865A>T | CA383245522 | KCNJ1 | c.379T>A (p.Phe127Ile) c.436T>A (p.Phe146Ile) c.430T>A (p.Phe144Ile) | |
11 | g.128839866T>A | CA477703559 | KCNJ1 | c.378A>T (p.Gly126=) c.435A>T (p.Gly145=) c.429A>T (p.Gly143=) | |
11 | g.128839866T>C | CA477703558 | KCNJ1 | c.378A>G (p.Gly126=) c.435A>G (p.Gly145=) c.429A>G (p.Gly143=) | |
11 | g.128839866T>G | CA477703557 | KCNJ1 | c.378A>C (p.Gly126=) c.435A>C (p.Gly145=) c.429A>C (p.Gly143=) | |
11 | g.128839867C>A | CA383245526 | KCNJ1 | c.377G>T (p.Gly126Val) c.434G>T (p.Gly145Val) c.428G>T (p.Gly143Val) | |
11 | g.128839867C>G | CA383245531 | KCNJ1 | c.377G>C (p.Gly126Ala) c.434G>C (p.Gly145Ala) c.428G>C (p.Gly143Ala) | |
11 | g.128839867C>T | CA383245536 | KCNJ1 | c.377G>A (p.Gly126Glu) c.434G>A (p.Gly145Glu) c.428G>A (p.Gly143Glu) | |
11 | g.128839868C>A | CA383245548 | KCNJ1 | c.376G>T (p.Gly126Ter) c.433G>T (p.Gly145Ter) c.427G>T (p.Gly143Ter) | gnomAD v4 |
11 | g.128839868C= | CA2008251221 | KCNJ1 | c.376G= (p.Gly126=) c.433G= (p.Gly145=) c.427G= (p.Gly143=) | |
11 | g.128839868C>G | CA383245544 | KCNJ1 | c.376G>C (p.Gly126Arg) c.433G>C (p.Gly145Arg) c.427G>C (p.Gly143Arg) | gnomAD v4 |
11 | g.128839868C>T | CA383245541 | KCNJ1 | c.376G>A (p.Gly126Arg) c.433G>A (p.Gly145Arg) c.427G>A (p.Gly143Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839869A>C | CA383245553 | KCNJ1 | c.375T>G (p.Tyr125Ter) c.432T>G (p.Tyr144Ter) c.426T>G (p.Tyr142Ter) | |
11 | g.128839869A>G | CA477703563 | KCNJ1 | c.375T>C (p.Tyr125=) c.432T>C (p.Tyr144=) c.426T>C (p.Tyr142=) | |
11 | g.128839869A>T | CA383245555 | KCNJ1 | c.375T>A (p.Tyr125Ter) c.432T>A (p.Tyr144Ter) c.426T>A (p.Tyr142Ter) | |
11 | g.128839870T>A | CA383245560 | KCNJ1 | c.374A>T (p.Tyr125Phe) c.431A>T (p.Tyr144Phe) c.425A>T (p.Tyr142Phe) | gnomAD v4 |
11 | g.128839870T>C | CA383245566 | KCNJ1 | c.374A>G (p.Tyr125Cys) c.431A>G (p.Tyr144Cys) c.425A>G (p.Tyr142Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839870T>G | CA383245564 | KCNJ1 | c.374A>C (p.Tyr125Ser) c.431A>C (p.Tyr144Ser) c.425A>C (p.Tyr142Ser) | |
11 | g.128839870T= | CA2008251228 | KCNJ1 | c.374A= (p.Tyr125=) c.431A= (p.Tyr144=) c.425A= (p.Tyr142=) | |
11 | g.128839871A>C | CA383245570 | KCNJ1 | c.373T>G (p.Tyr125Asp) c.430T>G (p.Tyr144Asp) c.424T>G (p.Tyr142Asp) | |
11 | g.128839871A>G | CA383245579 | KCNJ1 | c.373T>C (p.Tyr125His) c.430T>C (p.Tyr144His) c.424T>C (p.Tyr142His) | |
11 | g.128839871A>T | CA383245581 | KCNJ1 | c.373T>A (p.Tyr125Asn) c.430T>A (p.Tyr144Asn) c.424T>A (p.Tyr142Asn) | |
11 | g.128839872T>A | CA477703565 | KCNJ1 | c.372A>T (p.Gly124=) c.429A>T (p.Gly143=) c.423A>T (p.Gly141=) | |
11 | g.128839872T>C | CA477703566 | KCNJ1 | c.372A>G (p.Gly124=) c.429A>G (p.Gly143=) c.423A>G (p.Gly141=) | |
11 | g.128839872T>G | CA477703567 | KCNJ1 | c.372A>C (p.Gly124=) c.429A>C (p.Gly143=) c.423A>C (p.Gly141=) | |
11 | g.128839873C>A | CA383245598 | KCNJ1 | c.371G>T (p.Gly124Val) c.428G>T (p.Gly143Val) c.422G>T (p.Gly141Val) | |
11 | g.128839873C= | CA2008251232 | KCNJ1 | c.371G= (p.Gly124=) c.428G= (p.Gly143=) c.422G= (p.Gly141=) | |
11 | g.128839873C>G | CA230628737 | KCNJ1 | c.371G>C (p.Gly124Ala) c.428G>C (p.Gly143Ala) c.422G>C (p.Gly141Ala) | dbSNP |
11 | g.128839873C>T | CA383245605 | KCNJ1 | c.371G>A (p.Gly124Glu) c.428G>A (p.Gly143Glu) c.422G>A (p.Gly141Glu) | |
11 | g.128839874C>A | CA383245611 | KCNJ1 | c.370G>T (p.Gly124Ter) c.427G>T (p.Gly143Ter) c.421G>T (p.Gly141Ter) | COSMIC |
11 | g.128839874C>G | CA383245615 | KCNJ1 | c.370G>C (p.Gly124Arg) c.427G>C (p.Gly143Arg) c.421G>C (p.Gly141Arg) | |
11 | g.128839874C>T | CA383245618 | KCNJ1 | c.370G>A (p.Gly124Arg) c.427G>A (p.Gly143Arg) c.421G>A (p.Gly141Arg) | |
11 | g.128839875A>C | CA383245622 | KCNJ1 | c.369T>G (p.Ile123Met) c.426T>G (p.Ile142Met) c.420T>G (p.Ile140Met) | |
11 | g.128839875A>G | CA477703570 | KCNJ1 | c.369T>C (p.Ile123=) c.426T>C (p.Ile142=) c.420T>C (p.Ile140=) | |
11 | g.128839875A>T | CA477703571 | KCNJ1 | c.369T>A (p.Ile123=) c.426T>A (p.Ile142=) c.420T>A (p.Ile140=) | |
11 | g.128839876A>C | CA383245623 | KCNJ1 | c.368T>G (p.Ile123Ser) c.425T>G (p.Ile142Ser) c.419T>G (p.Ile140Ser) | |
11 | g.128839876A>G | CA383245624 | KCNJ1 | c.368T>C (p.Ile123Thr) c.425T>C (p.Ile142Thr) c.419T>C (p.Ile140Thr) | |
11 | g.128839876A>T | CA383245625 | KCNJ1 | c.368T>A (p.Ile123Asn) c.425T>A (p.Ile142Asn) c.419T>A (p.Ile140Asn) | |
11 | g.128839877T>A | CA383245628 | KCNJ1 | c.367A>T (p.Ile123Phe) c.424A>T (p.Ile142Phe) c.418A>T (p.Ile140Phe) | |
11 | g.128839877T>C | CA383245635 | KCNJ1 | c.367A>G (p.Ile123Val) c.424A>G (p.Ile142Val) c.418A>G (p.Ile140Val) | |
11 | g.128839877T>G | CA383245632 | KCNJ1 | c.367A>C (p.Ile123Leu) c.424A>C (p.Ile142Leu) c.418A>C (p.Ile140Leu) | |
11 | g.128839878G>A | CA477703573 | KCNJ1 | c.366C>T (p.Thr122=) c.423C>T (p.Thr141=) c.417C>T (p.Thr139=) | |
11 | g.128839878G>C | CA477703575 | KCNJ1 | c.366C>G (p.Thr122=) c.423C>G (p.Thr141=) c.417C>G (p.Thr139=) | |
11 | g.128839878G>T | CA477703577 | KCNJ1 | c.366C>A (p.Thr122=) c.423C>A (p.Thr141=) c.417C>A (p.Thr139=) | |
11 | g.128839879G>A | CA6357529 | KCNJ1 | c.365C>T (p.Thr122Ile) c.422C>T (p.Thr141Ile) c.416C>T (p.Thr139Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839879G>C | CA383245645 | KCNJ1 | c.365C>G (p.Thr122Ser) c.422C>G (p.Thr141Ser) c.416C>G (p.Thr139Ser) | |
11 | g.128839879G= | CA2008251236 | KCNJ1 | c.365C= (p.Thr122=) c.422C= (p.Thr141=) c.416C= (p.Thr139=) | |
11 | g.128839879G>T | CA383245648 | KCNJ1 | c.365C>A (p.Thr122Asn) c.422C>A (p.Thr141Asn) c.416C>A (p.Thr139Asn) | |
11 | g.128839880T>A | CA383245657 | KCNJ1 | c.364A>T (p.Thr122Ser) c.421A>T (p.Thr141Ser) c.415A>T (p.Thr139Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839880T>C | CA383245658 | KCNJ1 | c.364A>G (p.Thr122Ala) c.421A>G (p.Thr141Ala) c.415A>G (p.Thr139Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839880T>G | CA383245659 | KCNJ1 | c.364A>C (p.Thr122Pro) c.421A>C (p.Thr141Pro) c.415A>C (p.Thr139Pro) | |
11 | g.128839880T= | CA2008251238 | KCNJ1 | c.364A= (p.Thr122=) c.421A= (p.Thr141=) c.415A= (p.Thr139=) | |
11 | g.128839881C>A | CA477703580 | KCNJ1 | c.363G>T (p.Val121=) c.420G>T (p.Val140=) c.414G>T (p.Val138=) | |
11 | g.128839881C= | CA2008251240 | KCNJ1 | c.363G= (p.Val121=) c.420G= (p.Val140=) c.414G= (p.Val138=) | |
11 | g.128839881C>G | CA477703581 | KCNJ1 | c.363G>C (p.Val121=) c.420G>C (p.Val140=) c.414G>C (p.Val138=) | |
11 | g.128839881C>T | CA6357530 | KCNJ1 | c.363G>A (p.Val121=) c.420G>A (p.Val140=) c.414G>A (p.Val138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839882A>C | CA383245663 | KCNJ1 | c.362T>G (p.Val121Gly) c.419T>G (p.Val140Gly) c.413T>G (p.Val138Gly) | |
11 | g.128839882A>G | CA383245668 | KCNJ1 | c.362T>C (p.Val121Ala) c.419T>C (p.Val140Ala) c.413T>C (p.Val138Ala) | |
11 | g.128839882A>T | CA383245671 | KCNJ1 | c.362T>A (p.Val121Glu) c.419T>A (p.Val140Glu) c.413T>A (p.Val138Glu) | |
11 | g.128839883C>A | CA383245678 | KCNJ1 | c.361G>T (p.Val121Leu) c.418G>T (p.Val140Leu) c.412G>T (p.Val138Leu) | gnomAD v4 |
11 | g.128839883C= | CA2008251252 | KCNJ1 | c.361G= (p.Val121=) c.418G= (p.Val140=) c.412G= (p.Val138=) | |
11 | g.128839883C>G | CA383245677 | KCNJ1 | c.361G>C (p.Val121Leu) c.418G>C (p.Val140Leu) c.412G>C (p.Val138Leu) | |
11 | g.128839883C>T | CA383245675 | KCNJ1 | c.361G>A (p.Val121Met) c.418G>A (p.Val140Met) c.412G>A (p.Val138Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839884T>A | CA383245682 | KCNJ1 | c.360A>T (p.Gln120His) c.417A>T (p.Gln139His) c.411A>T (p.Gln137His) | |
11 | g.128839884T>C | CA477703583 | KCNJ1 | c.360A>G (p.Gln120=) c.417A>G (p.Gln139=) c.411A>G (p.Gln137=) | |
11 | g.128839884T>G | CA383245685 | KCNJ1 | c.360A>C (p.Gln120His) c.417A>C (p.Gln139His) c.411A>C (p.Gln137His) | |
11 | g.128839885T>A | CA383245690 | KCNJ1 | c.359A>T (p.Gln120Leu) c.416A>T (p.Gln139Leu) c.410A>T (p.Gln137Leu) | |
11 | g.128839885T>C | CA383245693 | KCNJ1 | c.359A>G (p.Gln120Arg) c.416A>G (p.Gln139Arg) c.410A>G (p.Gln137Arg) | |
11 | g.128839885T>G | CA383245696 | KCNJ1 | c.359A>C (p.Gln120Pro) c.416A>C (p.Gln139Pro) c.410A>C (p.Gln137Pro) | |
11 | g.128839886G>A | CA383245699 | KCNJ1 | c.358C>T (p.Gln120Ter) c.415C>T (p.Gln139Ter) c.409C>T (p.Gln137Ter) | |
11 | g.128839886G>C | CA383245701 | KCNJ1 | c.358C>G (p.Gln120Glu) c.415C>G (p.Gln139Glu) c.409C>G (p.Gln137Glu) | |
11 | g.128839886G>T | CA383245709 | KCNJ1 | c.358C>A (p.Gln120Lys) c.415C>A (p.Gln139Lys) c.409C>A (p.Gln137Lys) | |
11 | g.128839887A>C | CA477703585 | KCNJ1 | c.357T>G (p.Thr119=) c.414T>G (p.Thr138=) c.408T>G (p.Thr136=) | |
11 | g.128839887A>G | CA477703586 | KCNJ1 | c.357T>C (p.Thr119=) c.414T>C (p.Thr138=) c.408T>C (p.Thr136=) | gnomAD v4 |
11 | g.128839887A>T | CA477703587 | KCNJ1 | c.357T>A (p.Thr119=) c.414T>A (p.Thr138=) c.408T>A (p.Thr136=) | |
11 | g.128839888G>A | CA383245714 | KCNJ1 | c.356C>T (p.Thr119Ile) c.413C>T (p.Thr138Ile) c.407C>T (p.Thr136Ile) | |
11 | g.128839888G>C | CA383245715 | KCNJ1 | c.356C>G (p.Thr119Ser) c.413C>G (p.Thr138Ser) c.407C>G (p.Thr136Ser) | |
11 | g.128839888G>T | CA383245718 | KCNJ1 | c.356C>A (p.Thr119Asn) c.413C>A (p.Thr138Asn) c.407C>A (p.Thr136Asn) | |
11 | g.128839889T>A | CA383245719 | KCNJ1 | c.355A>T (p.Thr119Ser) c.412A>T (p.Thr138Ser) c.406A>T (p.Thr136Ser) | |
11 | g.128839889T>C | CA383245720 | KCNJ1 | c.355A>G (p.Thr119Ala) c.412A>G (p.Thr138Ala) c.406A>G (p.Thr136Ala) | |
11 | g.128839889T>G | CA383245724 | KCNJ1 | c.355A>C (p.Thr119Pro) c.412A>C (p.Thr138Pro) c.406A>C (p.Thr136Pro) | |
11 | g.128839890C>A | CA383245729 | KCNJ1 | c.354G>T (p.Glu118Asp) c.411G>T (p.Glu137Asp) c.405G>T (p.Glu135Asp) | ClinVar dbSNP |
11 | g.128839890C= | CA2008251260 | KCNJ1 | c.354G= (p.Glu118=) c.411G= (p.Glu137=) c.405G= (p.Glu135=) | |
11 | g.128839890C>G | CA383245731 | KCNJ1 | c.354G>C (p.Glu118Asp) c.411G>C (p.Glu137Asp) c.405G>C (p.Glu135Asp) | |
11 | g.128839890C>T | CA477703592 | KCNJ1 | c.354G>A (p.Glu118=) c.411G>A (p.Glu137=) c.405G>A (p.Glu135=) | |
11 | g.128839891T>A | CA383245736 | KCNJ1 | c.353A>T (p.Glu118Val) c.410A>T (p.Glu137Val) c.404A>T (p.Glu135Val) | |
11 | g.128839891T>C | CA383245737 | KCNJ1 | c.353A>G (p.Glu118Gly) c.410A>G (p.Glu137Gly) c.404A>G (p.Glu135Gly) | |
11 | g.128839891T>G | CA383245742 | KCNJ1 | c.353A>C (p.Glu118Ala) c.410A>C (p.Glu137Ala) c.404A>C (p.Glu135Ala) | |
11 | g.128839892C>A | CA383245746 | KCNJ1 | c.352G>T (p.Glu118Ter) c.409G>T (p.Glu137Ter) c.403G>T (p.Glu135Ter) | |
11 | g.128839892C>G | CA383245749 | KCNJ1 | c.352G>C (p.Glu118Gln) c.409G>C (p.Glu137Gln) c.403G>C (p.Glu135Gln) | |
11 | g.128839892C>T | CA383245750 | KCNJ1 | c.352G>A (p.Glu118Lys) c.409G>A (p.Glu137Lys) c.403G>A (p.Glu135Lys) | |
11 | g.128839893C>A | CA477703594 | KCNJ1 | c.351G>T (p.Leu117=) c.408G>T (p.Leu136=) c.402G>T (p.Leu134=) | |
11 | g.128839893C>G | CA477703595 | KCNJ1 | c.351G>C (p.Leu117=) c.408G>C (p.Leu136=) c.402G>C (p.Leu134=) | |
11 | g.128839893C>T | CA477703596 | KCNJ1 | c.351G>A (p.Leu117=) c.408G>A (p.Leu136=) c.402G>A (p.Leu134=) | |
11 | g.128839894A>C | CA383245751 | KCNJ1 | c.350T>G (p.Leu117Arg) c.407T>G (p.Leu136Arg) c.401T>G (p.Leu134Arg) | |
11 | g.128839894A>G | CA383245753 | KCNJ1 | c.350T>C (p.Leu117Pro) c.407T>C (p.Leu136Pro) c.401T>C (p.Leu134Pro) | |
11 | g.128839894A>T | CA383245754 | KCNJ1 | c.350T>A (p.Leu117Gln) c.407T>A (p.Leu136Gln) c.401T>A (p.Leu134Gln) | |
11 | g.128839895G>A | CA477703597 | KCNJ1 | c.349C>T (p.Leu117=) c.406C>T (p.Leu136=) c.400C>T (p.Leu134=) | ClinVar gnomAD v4 |
11 | g.128839895G>C | CA383245755 | KCNJ1 | c.349C>G (p.Leu117Val) c.406C>G (p.Leu136Val) c.400C>G (p.Leu134Val) | |
11 | g.128839895G>T | CA383245756 | KCNJ1 | c.349C>A (p.Leu117Met) c.406C>A (p.Leu136Met) c.400C>A (p.Leu134Met) | |
11 | g.128839896A>C | CA477703598 | KCNJ1 | c.348T>G (p.Ser116=) c.405T>G (p.Ser135=) c.399T>G (p.Ser133=) | |
11 | g.128839896A>G | CA477703599 | KCNJ1 | c.348T>C (p.Ser116=) c.405T>C (p.Ser135=) c.399T>C (p.Ser133=) | |
11 | g.128839896A>T | CA477703600 | KCNJ1 | c.348T>A (p.Ser116=) c.405T>A (p.Ser135=) c.399T>A (p.Ser133=) | |
11 | g.128839897G>A | CA383245760 | KCNJ1 | c.347C>T (p.Ser116Phe) c.404C>T (p.Ser135Phe) c.398C>T (p.Ser133Phe) | |
11 | g.128839897G>C | CA383245759 | KCNJ1 | c.347C>G (p.Ser116Cys) c.404C>G (p.Ser135Cys) c.398C>G (p.Ser133Cys) | |
11 | g.128839897G>T | CA383245758 | KCNJ1 | c.347C>A (p.Ser116Tyr) c.404C>A (p.Ser135Tyr) c.398C>A (p.Ser133Tyr) | |
11 | g.128839898A>C | CA383245762 | KCNJ1 | c.346T>G (p.Ser116Ala) c.403T>G (p.Ser135Ala) c.397T>G (p.Ser133Ala) | |
11 | g.128839898A>G | CA383245764 | KCNJ1 | c.346T>C (p.Ser116Pro) c.403T>C (p.Ser135Pro) c.397T>C (p.Ser133Pro) | |
11 | g.128839898A>T | CA383245766 | KCNJ1 | c.346T>A (p.Ser116Thr) c.403T>A (p.Ser135Thr) c.397T>A (p.Ser133Thr) | |
11 | g.128839899A>C | CA383245775 | KCNJ1 | c.345T>G (p.Phe115Leu) c.402T>G (p.Phe134Leu) c.396T>G (p.Phe132Leu) | |
11 | g.128839899A>G | CA477703601 | KCNJ1 | c.345T>C (p.Phe115=) c.402T>C (p.Phe134=) c.396T>C (p.Phe132=) | |
11 | g.128839899A>T | CA383245778 | KCNJ1 | c.345T>A (p.Phe115Leu) c.402T>A (p.Phe134Leu) c.396T>A (p.Phe132Leu) | |
11 | g.128839900A>C | CA383245785 | KCNJ1 | c.344T>G (p.Phe115Cys) c.401T>G (p.Phe134Cys) c.395T>G (p.Phe132Cys) | |
11 | g.128839900A>G | CA383245791 | KCNJ1 | c.344T>C (p.Phe115Ser) c.401T>C (p.Phe134Ser) c.395T>C (p.Phe132Ser) | |
11 | g.128839900A>T | CA383245795 | KCNJ1 | c.344T>A (p.Phe115Tyr) c.401T>A (p.Phe134Tyr) c.395T>A (p.Phe132Tyr) | |
11 | g.128839901A>C | CA383245803 | KCNJ1 | c.343T>G (p.Phe115Val) c.400T>G (p.Phe134Val) c.394T>G (p.Phe132Val) | |
11 | g.128839901A>G | CA383245806 | KCNJ1 | c.343T>C (p.Phe115Leu) c.400T>C (p.Phe134Leu) c.394T>C (p.Phe132Leu) | |
11 | g.128839901A>T | CA383245815 | KCNJ1 | c.343T>A (p.Phe115Ile) c.400T>A (p.Phe134Ile) c.394T>A (p.Phe132Ile) | |
11 | g.128839902C>A | CA477703604 | KCNJ1 | c.342G>T (p.Leu114=) c.399G>T (p.Leu133=) c.393G>T (p.Leu131=) | |
11 | g.128839902C= | CA2008251264 | KCNJ1 | c.342G= (p.Leu114=) c.399G= (p.Leu133=) c.393G= (p.Leu131=) | |
11 | g.128839902C>G | CA477703606 | KCNJ1 | c.342G>C (p.Leu114=) c.399G>C (p.Leu133=) c.393G>C (p.Leu131=) | |
11 | g.128839902C>T | CA477703607 | KCNJ1 | c.342G>A (p.Leu114=) c.399G>A (p.Leu133=) c.393G>A (p.Leu131=) | dbSNP gnomAD v4 |
11 | g.128839903A>C | CA383245817 | KCNJ1 | c.341T>G (p.Leu114Arg) c.398T>G (p.Leu133Arg) c.392T>G (p.Leu131Arg) | gnomAD v4 |
11 | g.128839903A>G | CA383245821 | KCNJ1 | c.341T>C (p.Leu114Pro) c.398T>C (p.Leu133Pro) c.392T>C (p.Leu131Pro) | |
11 | g.128839903A>T | CA383245823 | KCNJ1 | c.341T>A (p.Leu114Gln) c.398T>A (p.Leu133Gln) c.392T>A (p.Leu131Gln) | |
11 | g.128839904G>A | CA477703608 | KCNJ1 | c.340C>T (p.Leu114=) c.397C>T (p.Leu133=) c.391C>T (p.Leu131=) | |
11 | g.128839904G>C | CA383245831 | KCNJ1 | c.340C>G (p.Leu114Val) c.397C>G (p.Leu133Val) c.391C>G (p.Leu131Val) | |
11 | g.128839904G>T | CA383245828 | KCNJ1 | c.340C>A (p.Leu114Met) c.397C>A (p.Leu133Met) c.391C>A (p.Leu131Met) | |
11 | g.128839905A= | CA2008251268 | KCNJ1 | c.339T= (p.Phe113=) c.396T= (p.Phe132=) c.390T= (p.Phe130=) | |
11 | g.128839905A>C | CA383245838 | KCNJ1 | c.339T>G (p.Phe113Leu) c.396T>G (p.Phe132Leu) c.390T>G (p.Phe130Leu) | dbSNP gnomAD v4 |
11 | g.128839905A>G | CA477703609 | KCNJ1 | c.339T>C (p.Phe113=) c.396T>C (p.Phe132=) c.390T>C (p.Phe130=) | |
11 | g.128839905A>T | CA383245841 | KCNJ1 | c.339T>A (p.Phe113Leu) c.396T>A (p.Phe132Leu) c.390T>A (p.Phe130Leu) | |
11 | g.128839906A= | CA2008251271 | KCNJ1 | c.338T= (p.Phe113=) c.395T= (p.Phe132=) c.389T= (p.Phe130=) | |
11 | g.128839906A>C | CA383245845 | KCNJ1 | c.338T>G (p.Phe113Cys) c.395T>G (p.Phe132Cys) c.389T>G (p.Phe130Cys) | |
11 | g.128839906A>G | CA383245848 | KCNJ1 | c.338T>C (p.Phe113Ser) c.395T>C (p.Phe132Ser) c.389T>C (p.Phe130Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839906A>T | CA383245852 | KCNJ1 | c.338T>A (p.Phe113Tyr) c.395T>A (p.Phe132Tyr) c.389T>A (p.Phe130Tyr) | |
11 | g.128839907A= | CA2008251272 | KCNJ1 | c.337T= (p.Phe113=) c.394T= (p.Phe132=) c.388T= (p.Phe130=) | |
11 | g.128839907A>C | CA383245863 | KCNJ1 | c.337T>G (p.Phe113Val) c.394T>G (p.Phe132Val) c.388T>G (p.Phe130Val) | |
11 | g.128839907A>G | CA6357531 | KCNJ1 | c.337T>C (p.Phe113Leu) c.394T>C (p.Phe132Leu) c.388T>C (p.Phe130Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839907A>T | CA383245858 | KCNJ1 | c.337T>A (p.Phe113Ile) c.394T>A (p.Phe132Ile) c.388T>A (p.Phe130Ile) | |
11 | g.128839908A>C | CA477703613 | KCNJ1 | c.336T>G (p.Ala112=) c.393T>G (p.Ala131=) c.387T>G (p.Ala129=) | |
11 | g.128839908A>G | CA477703614 | KCNJ1 | c.336T>C (p.Ala112=) c.393T>C (p.Ala131=) c.387T>C (p.Ala129=) | |
11 | g.128839908A>T | CA477703615 | KCNJ1 | c.336T>A (p.Ala112=) c.393T>A (p.Ala131=) c.387T>A (p.Ala129=) | |
11 | g.128839909G>A | CA383245867 | KCNJ1 | c.335C>T (p.Ala112Val) c.392C>T (p.Ala131Val) c.386C>T (p.Ala129Val) | |
11 | g.128839909G>C | CA383245871 | KCNJ1 | c.335C>G (p.Ala112Gly) c.392C>G (p.Ala131Gly) c.386C>G (p.Ala129Gly) | gnomAD v4 |
11 | g.128839909G>T | CA383245874 | KCNJ1 | c.335C>A (p.Ala112Asp) c.392C>A (p.Ala131Asp) c.386C>A (p.Ala129Asp) | |
11 | g.128839910C>A | CA383245879 | KCNJ1 | c.334G>T (p.Ala112Ser) c.391G>T (p.Ala131Ser) c.385G>T (p.Ala129Ser) | |
11 | g.128839910C>G | CA383245882 | KCNJ1 | c.334G>C (p.Ala112Pro) c.391G>C (p.Ala131Pro) c.385G>C (p.Ala129Pro) | |
11 | g.128839910C>T | CA383245886 | KCNJ1 | c.334G>A (p.Ala112Thr) c.391G>A (p.Ala131Thr) c.385G>A (p.Ala129Thr) | |
11 | g.128839911T>A | CA477703620 | KCNJ1 | c.333A>T (p.Ser111=) c.390A>T (p.Ser130=) c.384A>T (p.Ser128=) | |
11 | g.128839911T>C | CA477703621 | KCNJ1 | c.333A>G (p.Ser111=) c.390A>G (p.Ser130=) c.384A>G (p.Ser128=) | |
11 | g.128839911T>G | CA477703623 | KCNJ1 | c.333A>C (p.Ser111=) c.390A>C (p.Ser130=) c.384A>C (p.Ser128=) | dbSNP |
11 | g.128839911T= | CA2008251276 | KCNJ1 | c.333A= (p.Ser111=) c.390A= (p.Ser130=) c.384A= (p.Ser128=) | |
11 | g.128839912G>A | CA383245892 | KCNJ1 | c.332C>T (p.Ser111Leu) c.389C>T (p.Ser130Leu) c.383C>T (p.Ser128Leu) | |
11 | g.128839912G>C | CA383245897 | KCNJ1 | c.332C>G (p.Ser111Ter) c.389C>G (p.Ser130Ter) c.383C>G (p.Ser128Ter) | |
11 | g.128839912G>T | CA383245894 | KCNJ1 | c.332C>A (p.Ser111Ter) c.389C>A (p.Ser130Ter) c.383C>A (p.Ser128Ter) | |
11 | g.128839913A>C | CA383245904 | KCNJ1 | c.331T>G (p.Ser111Ala) c.388T>G (p.Ser130Ala) c.382T>G (p.Ser128Ala) | |
11 | g.128839913A>G | CA383245906 | KCNJ1 | c.331T>C (p.Ser111Pro) c.388T>C (p.Ser130Pro) c.382T>C (p.Ser128Pro) | |
11 | g.128839913A>T | CA383245911 | KCNJ1 | c.331T>A (p.Ser111Thr) c.388T>A (p.Ser130Thr) c.382T>A (p.Ser128Thr) | |
11 | g.128839914G>A | CA230628761 | KCNJ1 | c.330C>T (p.Thr110=) c.387C>T (p.Thr129=) c.381C>T (p.Thr127=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839914G>C | CA477703031 | KCNJ1 | c.330C>G (p.Thr110=) c.387C>G (p.Thr129=) c.381C>G (p.Thr127=) | |
11 | g.128839914G= | CA2008251277 | KCNJ1 | c.330C= (p.Thr110=) c.387C= (p.Thr129=) c.381C= (p.Thr127=) | |
11 | g.128839914G>T | CA477703032 | KCNJ1 | c.330C>A (p.Thr110=) c.387C>A (p.Thr129=) c.381C>A (p.Thr127=) | |
11 | g.128839915G>A | CA6357532 | KCNJ1 | c.329C>T (p.Thr110Ile) c.386C>T (p.Thr129Ile) c.380C>T (p.Thr127Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839915G>C | CA383245940 | KCNJ1 | c.329C>G (p.Thr110Ser) c.386C>G (p.Thr129Ser) c.380C>G (p.Thr127Ser) | |
11 | g.128839915G= | CA2008251280 | KCNJ1 | c.329C= (p.Thr110=) c.386C= (p.Thr129=) c.380C= (p.Thr127=) | |
11 | g.128839915G>T | CA383245942 | KCNJ1 | c.329C>A (p.Thr110Asn) c.386C>A (p.Thr129Asn) c.380C>A (p.Thr127Asn) | |
11 | g.128839916T>A | CA383245944 | KCNJ1 | c.328A>T (p.Thr110Ser) c.385A>T (p.Thr129Ser) c.379A>T (p.Thr127Ser) | gnomAD v4 |
11 | g.128839916T>C | CA6357533 | KCNJ1 | c.328A>G (p.Thr110Ala) c.385A>G (p.Thr129Ala) c.379A>G (p.Thr127Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839916T>G | CA383245950 | KCNJ1 | c.328A>C (p.Thr110Pro) c.385A>C (p.Thr129Pro) c.379A>C (p.Thr127Pro) | |
11 | g.128839916T= | CA2008251285 | KCNJ1 | c.328A= (p.Thr110=) c.385A= (p.Thr129=) c.379A= (p.Thr127=) | |
11 | g.128839917C>A | CA383245956 | KCNJ1 | c.327G>T (p.Leu109Phe) c.384G>T (p.Leu128Phe) c.378G>T (p.Leu126Phe) | dbSNP gnomAD v2 |
11 | g.128839917C= | CA2008251286 | KCNJ1 | c.327G= (p.Leu109=) c.384G= (p.Leu128=) c.378G= (p.Leu126=) | |
11 | g.128839917C>G | CA383245964 | KCNJ1 | c.327G>C (p.Leu109Phe) c.384G>C (p.Leu128Phe) c.378G>C (p.Leu126Phe) | |
11 | g.128839917C>T | CA477703035 | KCNJ1 | c.327G>A (p.Leu109=) c.384G>A (p.Leu128=) c.378G>A (p.Leu126=) | |
11 | g.128839918A= | CA2008251287 | KCNJ1 | c.326T= (p.Leu109=) c.383T= (p.Leu128=) c.377T= (p.Leu126=) | |
11 | g.128839918A>C | CA383245967 | KCNJ1 | c.326T>G (p.Leu109Trp) c.383T>G (p.Leu128Trp) c.377T>G (p.Leu126Trp) | |
11 | g.128839918A>G | CA383245968 | KCNJ1 | c.326T>C (p.Leu109Ser) c.383T>C (p.Leu128Ser) c.377T>C (p.Leu126Ser) | dbSNP gnomAD v2 |
11 | g.128839918A>T | CA383245969 | KCNJ1 | c.326T>A (p.Leu109Ter) c.383T>A (p.Leu128Ter) c.377T>A (p.Leu126Ter) | |
11 | g.128839919A>C | CA383245971 | KCNJ1 | c.325T>G (p.Leu109Val) c.382T>G (p.Leu128Val) c.376T>G (p.Leu126Val) | |
11 | g.128839919A>G | CA477703039 | KCNJ1 | c.325T>C (p.Leu109=) c.382T>C (p.Leu128=) c.376T>C (p.Leu126=) | |
11 | g.128839919A>T | CA383245974 | KCNJ1 | c.325T>A (p.Leu109Met) c.382T>A (p.Leu128Met) c.376T>A (p.Leu126Met) | |
11 | g.128839920G>A | CA477703042 | KCNJ1 | c.324C>T (p.Gly108=) c.381C>T (p.Gly127=) c.375C>T (p.Gly125=) | gnomAD v4 |
11 | g.128839920G>C | CA477703040 | KCNJ1 | c.324C>G (p.Gly108=) c.381C>G (p.Gly127=) c.375C>G (p.Gly125=) | |
11 | g.128839920G>T | CA477703041 | KCNJ1 | c.324C>A (p.Gly108=) c.381C>A (p.Gly127=) c.375C>A (p.Gly125=) | |
11 | g.128839921C>A | CA383245986 | KCNJ1 | c.323G>T (p.Gly108Val) c.380G>T (p.Gly127Val) c.374G>T (p.Gly125Val) | |
11 | g.128839921C= | CA2008251290 | KCNJ1 | c.323G= (p.Gly108=) c.380G= (p.Gly127=) c.374G= (p.Gly125=) | |
11 | g.128839921C>G | CA383245988 | KCNJ1 | c.323G>C (p.Gly108Ala) c.380G>C (p.Gly127Ala) c.374G>C (p.Gly125Ala) | |
11 | g.128839921C>T | CA383245991 | KCNJ1 | c.323G>A (p.Gly108Asp) c.380G>A (p.Gly127Asp) c.374G>A (p.Gly125Asp) | dbSNP gnomAD v4 |
11 | g.128839922C>A | CA383245995 | KCNJ1 | c.322G>T (p.Gly108Cys) c.379G>T (p.Gly127Cys) c.373G>T (p.Gly125Cys) | |
11 | g.128839922C= | CA2008251293 | KCNJ1 | c.322G= (p.Gly108=) c.379G= (p.Gly127=) c.373G= (p.Gly125=) | |
11 | g.128839922C>G | CA383245999 | KCNJ1 | c.322G>C (p.Gly108Arg) c.379G>C (p.Gly127Arg) c.373G>C (p.Gly125Arg) | |
11 | g.128839922C>T | CA6357534 | KCNJ1 | c.322G>A (p.Gly108Ser) c.379G>A (p.Gly127Ser) c.373G>A (p.Gly125Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839923A= | CA2008251297 | KCNJ1 | c.321T= (p.Asn107=) c.378T= (p.Asn126=) c.372T= (p.Asn124=) | |
11 | g.128839923A>C | CA383246012 | KCNJ1 | c.321T>G (p.Asn107Lys) c.378T>G (p.Asn126Lys) c.372T>G (p.Asn124Lys) | |
11 | g.128839923A>G | CA230628778 | KCNJ1 | c.321T>C (p.Asn107=) c.378T>C (p.Asn126=) c.372T>C (p.Asn124=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839923A>T | CA383246014 | KCNJ1 | c.321T>A (p.Asn107Lys) c.378T>A (p.Asn126Lys) c.372T>A (p.Asn124Lys) | |
11 | g.128839924T>A | CA383246017 | KCNJ1 | c.320A>T (p.Asn107Ile) c.377A>T (p.Asn126Ile) c.371A>T (p.Asn124Ile) | |
11 | g.128839924T>C | CA383246019 | KCNJ1 | c.320A>G (p.Asn107Ser) c.377A>G (p.Asn126Ser) c.371A>G (p.Asn124Ser) | |
11 | g.128839924T>G | CA383246022 | KCNJ1 | c.320A>C (p.Asn107Thr) c.377A>C (p.Asn126Thr) c.371A>C (p.Asn124Thr) | |
11 | g.128839925T>A | CA383246034 | KCNJ1 | c.319A>T (p.Asn107Tyr) c.376A>T (p.Asn126Tyr) c.370A>T (p.Asn124Tyr) | dbSNP gnomAD v4 |
11 | g.128839925T>C | CA383246031 | KCNJ1 | c.319A>G (p.Asn107Asp) c.376A>G (p.Asn126Asp) c.370A>G (p.Asn124Asp) | |
11 | g.128839925T>G | CA383246027 | KCNJ1 | c.319A>C (p.Asn107His) c.376A>C (p.Asn126His) c.370A>C (p.Asn124His) | |
11 | g.128839925T= | CA2008251301 | KCNJ1 | c.319A= (p.Asn107=) c.376A= (p.Asn126=) c.370A= (p.Asn124=) | |
11 | g.128839926A= | CA2008251304 | KCNJ1 | c.318T= (p.Ile106=) c.375T= (p.Ile125=) c.369T= (p.Ile123=) | |
11 | g.128839926A>C | CA383246038 | KCNJ1 | c.318T>G (p.Ile106Met) c.375T>G (p.Ile125Met) c.369T>G (p.Ile123Met) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839926A>G | CA477703048 | KCNJ1 | c.318T>C (p.Ile106=) c.375T>C (p.Ile125=) c.369T>C (p.Ile123=) | dbSNP gnomAD v4 |
11 | g.128839926A>T | CA477703049 | KCNJ1 | c.318T>A (p.Ile106=) c.375T>A (p.Ile125=) c.369T>A (p.Ile123=) | |
11 | g.128839927A>C | CA383246046 | KCNJ1 | c.317T>G (p.Ile106Ser) c.374T>G (p.Ile125Ser) c.368T>G (p.Ile123Ser) | |
11 | g.128839927A>G | CA383246041 | KCNJ1 | c.317T>C (p.Ile106Thr) c.374T>C (p.Ile125Thr) c.368T>C (p.Ile123Thr) | |
11 | g.128839927A>T | CA383246047 | KCNJ1 | c.317T>A (p.Ile106Asn) c.374T>A (p.Ile125Asn) c.368T>A (p.Ile123Asn) | |
11 | g.128839927_128839930delinsATAT | CA2008251307 | KCNJ1 | c.314_317delinsATAT (p.Asn105=) c.371_374delinsATAT (p.Asn124=) c.365_368delinsATAT (p.Asn122=) | |
11 | g.128839928T>A | CA383246048 | KCNJ1 | c.316A>T (p.Ile106Phe) c.373A>T (p.Ile125Phe) c.367A>T (p.Ile123Phe) | |
11 | g.128839928T>C | CA383246049 | KCNJ1 | c.316A>G (p.Ile106Val) c.373A>G (p.Ile125Val) c.367A>G (p.Ile123Val) | gnomAD v4 |
11 | g.128839928T>G | CA383246052 | KCNJ1 | c.316A>C (p.Ile106Leu) c.373A>C (p.Ile125Leu) c.367A>C (p.Ile123Leu) | |
11 | g.128839929_128839931del | CA602585822 | KCNJ1 | c.314_316del (p.Asn105del) c.371_373del (p.Asn124del) c.365_367del (p.Asn122del) | dbSNP gnomAD v2 |
11 | g.128839929A= | CA2008251317 | KCNJ1 | c.315T= (p.Asn105=) c.372T= (p.Asn124=) c.366T= (p.Asn122=) | |
11 | g.128839929A>C | CA383246056 | KCNJ1 | c.315T>G (p.Asn105Lys) c.372T>G (p.Asn124Lys) c.366T>G (p.Asn122Lys) | |
11 | g.128839929A>G | CA230628785 | KCNJ1 | c.315T>C (p.Asn105=) c.372T>C (p.Asn124=) c.366T>C (p.Asn122=) | ClinVar dbSNP |
11 | g.128839929A>T | CA120164 | KCNJ1 | c.315T>A (p.Asn105Lys) c.372T>A (p.Asn124Lys) c.366T>A (p.Asn122Lys) | ClinVar dbSNP |
11 | g.128839930T>A | CA383246057 | KCNJ1 | c.314A>T (p.Asn105Ile) c.371A>T (p.Asn124Ile) c.365A>T (p.Asn122Ile) | |
11 | g.128839930T>C | CA383246060 | KCNJ1 | c.314A>G (p.Asn105Ser) c.371A>G (p.Asn124Ser) c.365A>G (p.Asn122Ser) | dbSNP |
11 | g.128839930T>G | CA383246062 | KCNJ1 | c.314A>C (p.Asn105Thr) c.371A>C (p.Asn124Thr) c.365A>C (p.Asn122Thr) | |
11 | g.128839930T= | CA2008251321 | KCNJ1 | c.314A= (p.Asn105=) c.371A= (p.Asn124=) c.365A= (p.Asn122=) | |
11 | g.128839931T>A | CA383246063 | KCNJ1 | c.313A>T (p.Asn105Tyr) c.370A>T (p.Asn124Tyr) c.364A>T (p.Asn122Tyr) | |
11 | g.128839931T>C | CA383246064 | KCNJ1 | c.313A>G (p.Asn105Asp) c.370A>G (p.Asn124Asp) c.364A>G (p.Asn122Asp) | dbSNP |
11 | g.128839931T>G | CA383246065 | KCNJ1 | c.313A>C (p.Asn105His) c.370A>C (p.Asn124His) c.364A>C (p.Asn122His) | |
11 | g.128839931T= | CA2008251327 | KCNJ1 | c.313A= (p.Asn105=) c.370A= (p.Asn124=) c.364A= (p.Asn122=) | |
11 | g.128839932C>A | CA383246071 | KCNJ1 | c.312G>T (p.Glu104Asp) c.369G>T (p.Glu123Asp) c.363G>T (p.Glu121Asp) | |
11 | g.128839932C>G | CA383246068 | KCNJ1 | c.312G>C (p.Glu104Asp) c.369G>C (p.Glu123Asp) c.363G>C (p.Glu121Asp) | |
11 | g.128839932C>T | CA477703052 | KCNJ1 | c.312G>A (p.Glu104=) c.369G>A (p.Glu123=) c.363G>A (p.Glu121=) | |
11 | g.128839933T>A | CA383246074 | KCNJ1 | c.311A>T (p.Glu104Val) c.368A>T (p.Glu123Val) c.362A>T (p.Glu121Val) | |
11 | g.128839933T>C | CA383246076 | KCNJ1 | c.311A>G (p.Glu104Gly) c.368A>G (p.Glu123Gly) c.362A>G (p.Glu121Gly) | |
11 | g.128839933T>G | CA383246079 | KCNJ1 | c.311A>C (p.Glu104Ala) c.368A>C (p.Glu123Ala) c.362A>C (p.Glu121Ala) | |
11 | g.128839934C>A | CA383246083 | KCNJ1 | c.310G>T (p.Glu104Ter) c.367G>T (p.Glu123Ter) c.361G>T (p.Glu121Ter) | |
11 | g.128839934C= | CA2008251328 | KCNJ1 | c.310G= (p.Glu104=) c.367G= (p.Glu123=) c.361G= (p.Glu121=) | |
11 | g.128839934C>G | CA383246087 | KCNJ1 | c.310G>C (p.Glu104Gln) c.367G>C (p.Glu123Gln) c.361G>C (p.Glu121Gln) | |
11 | g.128839934C>T | CA383246092 | KCNJ1 | c.310G>A (p.Glu104Lys) c.367G>A (p.Glu123Lys) c.361G>A (p.Glu121Lys) | dbSNP gnomAD v4 |
11 | g.128839935C>A | CA477703054 | KCNJ1 | c.309G>T (p.Val103=) c.366G>T (p.Val122=) c.360G>T (p.Val120=) | |
11 | g.128839935C>G | CA477703055 | KCNJ1 | c.309G>C (p.Val103=) c.366G>C (p.Val122=) c.360G>C (p.Val120=) | |
11 | g.128839935C>T | CA477703056 | KCNJ1 | c.309G>A (p.Val103=) c.366G>A (p.Val122=) c.360G>A (p.Val120=) | |
11 | g.128839936A= | CA2008251333 | KCNJ1 | c.308T= (p.Val103=) c.365T= (p.Val122=) c.359T= (p.Val120=) | |
11 | g.128839936A>C | CA383246099 | KCNJ1 | c.308T>G (p.Val103Gly) c.365T>G (p.Val122Gly) c.359T>G (p.Val120Gly) | |
11 | g.128839936A>G | CA6357535 | KCNJ1 | c.308T>C (p.Val103Ala) c.365T>C (p.Val122Ala) c.359T>C (p.Val120Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839936A>T | CA383246103 | KCNJ1 | c.308T>A (p.Val103Glu) c.365T>A (p.Val122Glu) c.359T>A (p.Val120Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839937C>A | CA383246110 | KCNJ1 | c.307G>T (p.Val103Leu) c.364G>T (p.Val122Leu) c.358G>T (p.Val120Leu) | |
11 | g.128839937C>G | CA383246111 | KCNJ1 | c.307G>C (p.Val103Leu) c.364G>C (p.Val122Leu) c.358G>C (p.Val120Leu) | |
11 | g.128839937C>T | CA383246114 | KCNJ1 | c.307G>A (p.Val103Met) c.364G>A (p.Val122Met) c.358G>A (p.Val120Met) | gnomAD v4 |
11 | g.128839938A>C | CA383246120 | KCNJ1 | c.306T>G (p.Cys102Trp) c.363T>G (p.Cys121Trp) c.357T>G (p.Cys119Trp) | |
11 | g.128839938A>G | CA477703060 | KCNJ1 | c.306T>C (p.Cys102=) c.363T>C (p.Cys121=) c.357T>C (p.Cys119=) | |
11 | g.128839938A>T | CA383246119 | KCNJ1 | c.306T>A (p.Cys102Ter) c.363T>A (p.Cys121Ter) c.357T>A (p.Cys119Ter) | |
11 | g.128839939C>A | CA383246124 | KCNJ1 | c.305G>T (p.Cys102Phe) c.362G>T (p.Cys121Phe) c.356G>T (p.Cys119Phe) | |
11 | g.128839939C= | CA2008251367 | KCNJ1 | c.305G= (p.Cys102=) c.362G= (p.Cys121=) c.356G= (p.Cys119=) | |
11 | g.128839939C>G | CA383246127 | KCNJ1 | c.305G>C (p.Cys102Ser) c.362G>C (p.Cys121Ser) c.356G>C (p.Cys119Ser) | |
11 | g.128839939C>T | CA383246128 | KCNJ1 | c.305G>A (p.Cys102Tyr) c.362G>A (p.Cys121Tyr) c.356G>A (p.Cys119Tyr) | ClinVar dbSNP gnomAD v4 |
11 | g.128839940A= | CA2008251375 | KCNJ1 | c.304T= (p.Cys102=) c.361T= (p.Cys121=) c.355T= (p.Cys119=) | |
11 | g.128839940A>C | CA383246130 | KCNJ1 | c.304T>G (p.Cys102Gly) c.361T>G (p.Cys121Gly) c.355T>G (p.Cys119Gly) | |
11 | g.128839940A>G | CA383246131 | KCNJ1 | c.304T>C (p.Cys102Arg) c.361T>C (p.Cys121Arg) c.355T>C (p.Cys119Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839940A>T | CA383246132 | KCNJ1 | c.304T>A (p.Cys102Ser) c.361T>A (p.Cys121Ser) c.355T>A (p.Cys119Ser) | |
11 | g.128839941G>A | CA477703065 | KCNJ1 | c.303C>T (p.Pro101=) c.360C>T (p.Pro120=) c.354C>T (p.Pro118=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839941G>C | CA477703066 | KCNJ1 | c.303C>G (p.Pro101=) c.360C>G (p.Pro120=) c.354C>G (p.Pro118=) | gnomAD v4 |
11 | g.128839941G= | CA2008251378 | KCNJ1 | c.303C= (p.Pro101=) c.360C= (p.Pro120=) c.354C= (p.Pro118=) | |
11 | g.128839941G>T | CA477703064 | KCNJ1 | c.303C>A (p.Pro101=) c.360C>A (p.Pro120=) c.354C>A (p.Pro118=) | |
11 | g.128839943del | CA2616771386 | KCNJ1 | c.303del (p.Cys102ValfsTer8) c.360del (p.Cys121ValfsTer8) c.354del (p.Cys119ValfsTer8) | gnomAD v4 |
11 | g.128839942G>A | CA230628822 | KCNJ1 | c.302C>T (p.Pro101Leu) c.359C>T (p.Pro120Leu) c.353C>T (p.Pro118Leu) | ClinVar dbSNP gnomAD v4 |
11 | g.128839942G>C | CA383246135 | KCNJ1 | c.302C>G (p.Pro101Arg) c.359C>G (p.Pro120Arg) c.353C>G (p.Pro118Arg) | |
11 | g.128839942G= | CA2008251386 | KCNJ1 | c.302C= (p.Pro101=) c.359C= (p.Pro120=) c.353C= (p.Pro118=) | |
11 | g.128839942G>T | CA383246149 | KCNJ1 | c.302C>A (p.Pro101His) c.359C>A (p.Pro120His) c.353C>A (p.Pro118His) | |
11 | g.128839943G>A | CA383246152 | KCNJ1 | c.301C>T (p.Pro101Ser) c.358C>T (p.Pro120Ser) c.352C>T (p.Pro118Ser) | dbSNP gnomAD v4 |
11 | g.128839943G>C | CA383246153 | KCNJ1 | c.301C>G (p.Pro101Ala) c.358C>G (p.Pro120Ala) c.352C>G (p.Pro118Ala) | |
11 | g.128839943G= | CA2008251393 | KCNJ1 | c.301C= (p.Pro101=) c.358C= (p.Pro120=) c.352C= (p.Pro118=) | |
11 | g.128839943G>T | CA383246154 | KCNJ1 | c.301C>A (p.Pro101Thr) c.358C>A (p.Pro120Thr) c.352C>A (p.Pro118Thr) | |
11 | g.128839943_128839955delinsGAGTGTGATTGGC | CA2008251390 | KCNJ1 | c.289_301delinsGCCAATCACACTC (p.Ala97=) c.346_358delinsGCCAATCACACTC (p.Ala116=) c.340_352delinsGCCAATCACACTC (p.Ala114=) | |
11 | g.128839944A>C | CA477703070 | KCNJ1 | c.300T>G (p.Thr100=) c.357T>G (p.Thr119=) c.351T>G (p.Thr117=) | gnomAD v4 |
11 | g.128839944A>G | CA477703072 | KCNJ1 | c.300T>C (p.Thr100=) c.357T>C (p.Thr119=) c.351T>C (p.Thr117=) | |
11 | g.128839944A>T | CA477703071 | KCNJ1 | c.300T>A (p.Thr100=) c.357T>A (p.Thr119=) c.351T>A (p.Thr117=) | |
11 | g.128839946_128839957del | CA6357536 | KCNJ1 | c.289_300del (p.Ala97_Thr100del) c.346_357del (p.Ala116_Thr119del) c.340_351del (p.Ala114_Thr117del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839945G>A | CA383246164 | KCNJ1 | c.299C>T (p.Thr100Ile) c.356C>T (p.Thr119Ile) c.350C>T (p.Thr117Ile) | |
11 | g.128839945G>C | CA383246159 | KCNJ1 | c.299C>G (p.Thr100Ser) c.356C>G (p.Thr119Ser) c.350C>G (p.Thr117Ser) | |
11 | g.128839945G>T | CA383246162 | KCNJ1 | c.299C>A (p.Thr100Asn) c.356C>A (p.Thr119Asn) c.350C>A (p.Thr117Asn) | |
11 | g.128839946T>A | CA383246166 | KCNJ1 | c.298A>T (p.Thr100Ser) c.355A>T (p.Thr119Ser) c.349A>T (p.Thr117Ser) | |
11 | g.128839946T>C | CA6357537 | KCNJ1 | c.298A>G (p.Thr100Ala) c.355A>G (p.Thr119Ala) c.349A>G (p.Thr117Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839946T>G | CA383246171 | KCNJ1 | c.298A>C (p.Thr100Pro) c.355A>C (p.Thr119Pro) c.349A>C (p.Thr117Pro) | |
11 | g.128839946T= | CA2008251397 | KCNJ1 | c.298A= (p.Thr100=) c.355A= (p.Thr119=) c.349A= (p.Thr117=) | |
11 | g.128839947G>A | CA477703074 | KCNJ1 | c.297C>T (p.His99=) c.354C>T (p.His118=) c.348C>T (p.His116=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839947G>C | CA383246173 | KCNJ1 | c.297C>G (p.His99Gln) c.354C>G (p.His118Gln) c.348C>G (p.His116Gln) | |
11 | g.128839947G= | CA2008251401 | KCNJ1 | c.297C= (p.His99=) c.354C= (p.His118=) c.348C= (p.His116=) | |
11 | g.128839947G>T | CA383246175 | KCNJ1 | c.297C>A (p.His99Gln) c.354C>A (p.His118Gln) c.348C>A (p.His116Gln) | |
11 | g.128839948T>A | CA383246179 | KCNJ1 | c.296A>T (p.His99Leu) c.353A>T (p.His118Leu) c.347A>T (p.His116Leu) | |
11 | g.128839948T>C | CA6357538 | KCNJ1 | c.296A>G (p.His99Arg) c.353A>G (p.His118Arg) c.347A>G (p.His116Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839948T>G | CA383246181 | KCNJ1 | c.296A>C (p.His99Pro) c.353A>C (p.His118Pro) c.347A>C (p.His116Pro) | |
11 | g.128839948T= | CA2008251405 | KCNJ1 | c.296A= (p.His99=) c.353A= (p.His118=) c.347A= (p.His116=) | |
11 | g.128839949G>A | CA6357539 | KCNJ1 | c.295C>T (p.His99Tyr) c.352C>T (p.His118Tyr) c.346C>T (p.His116Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839949G>C | CA383246186 | KCNJ1 | c.295C>G (p.His99Asp) c.352C>G (p.His118Asp) c.346C>G (p.His116Asp) | |
11 | g.128839949G= | CA2008251408 | KCNJ1 | c.295C= (p.His99=) c.352C= (p.His118=) c.346C= (p.His116=) | |
11 | g.128839949G>T | CA383246188 | KCNJ1 | c.295C>A (p.His99Asn) c.352C>A (p.His118Asn) c.346C>A (p.His116Asn) | |
11 | g.128839950A>C | CA383246193 | KCNJ1 | c.294T>G (p.Asn98Lys) c.351T>G (p.Asn117Lys) c.345T>G (p.Asn115Lys) | ClinVar gnomAD v4 |
11 | g.128839950A>G | CA477703075 | KCNJ1 | c.294T>C (p.Asn98=) c.351T>C (p.Asn117=) c.345T>C (p.Asn115=) | |
11 | g.128839950A>T | CA383246195 | KCNJ1 | c.294T>A (p.Asn98Lys) c.351T>A (p.Asn117Lys) c.345T>A (p.Asn115Lys) | |
11 | g.128839951T>A | CA383246197 | KCNJ1 | c.293A>T (p.Asn98Ile) c.350A>T (p.Asn117Ile) c.344A>T (p.Asn115Ile) | |
11 | g.128839951T>C | CA6357540 | KCNJ1 | c.293A>G (p.Asn98Ser) c.350A>G (p.Asn117Ser) c.344A>G (p.Asn115Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839951T>G | CA383246196 | KCNJ1 | c.293A>C (p.Asn98Thr) c.350A>C (p.Asn117Thr) c.344A>C (p.Asn115Thr) | gnomAD v4 |
11 | g.128839951T= | CA2008251415 | KCNJ1 | c.293A= (p.Asn98=) c.350A= (p.Asn117=) c.344A= (p.Asn115=) | |
11 | g.128839952T>A | CA383246202 | KCNJ1 | c.292A>T (p.Asn98Tyr) c.349A>T (p.Asn117Tyr) c.343A>T (p.Asn115Tyr) | |
11 | g.128839952T>C | CA383246199 | KCNJ1 | c.292A>G (p.Asn98Asp) c.349A>G (p.Asn117Asp) c.343A>G (p.Asn115Asp) | |
11 | g.128839952T>G | CA383246200 | KCNJ1 | c.292A>C (p.Asn98His) c.349A>C (p.Asn117His) c.343A>C (p.Asn115His) | |
11 | g.128839953G>A | CA477703079 | KCNJ1 | c.291C>T (p.Ala97=) c.348C>T (p.Ala116=) c.342C>T (p.Ala114=) | gnomAD v4 |
11 | g.128839953G>C | CA477703081 | KCNJ1 | c.291C>G (p.Ala97=) c.348C>G (p.Ala116=) c.342C>G (p.Ala114=) | |
11 | g.128839953G>T | CA477703082 | KCNJ1 | c.291C>A (p.Ala97=) c.348C>A (p.Ala116=) c.342C>A (p.Ala114=) | |
11 | g.128839954G>A | CA383246207 | KCNJ1 | c.290C>T (p.Ala97Val) c.347C>T (p.Ala116Val) c.341C>T (p.Ala114Val) | |
11 | g.128839954G>C | CA383246209 | KCNJ1 | c.290C>G (p.Ala97Gly) c.347C>G (p.Ala116Gly) c.341C>G (p.Ala114Gly) | COSMIC |
11 | g.128839954G>T | CA383246210 | KCNJ1 | c.290C>A (p.Ala97Asp) c.347C>A (p.Ala116Asp) c.341C>A (p.Ala114Asp) | |
11 | g.128839955C>A | CA383246215 | KCNJ1 | c.289G>T (p.Ala97Ser) c.346G>T (p.Ala116Ser) c.340G>T (p.Ala114Ser) | dbSNP gnomAD v4 |
11 | g.128839955C= | CA2008251418 | KCNJ1 | c.289G= (p.Ala97=) c.346G= (p.Ala116=) c.340G= (p.Ala114=) | |
11 | g.128839955C>G | CA383246214 | KCNJ1 | c.289G>C (p.Ala97Pro) c.346G>C (p.Ala116Pro) c.340G>C (p.Ala114Pro) | |
11 | g.128839955C>T | CA383246213 | KCNJ1 | c.289G>A (p.Ala97Thr) c.346G>A (p.Ala116Thr) c.340G>A (p.Ala114Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839956A>C | CA477703087 | KCNJ1 | c.288T>G (p.Ser96=) c.345T>G (p.Ser115=) c.339T>G (p.Ser113=) | |
11 | g.128839956A>G | CA477703088 | KCNJ1 | c.288T>C (p.Ser96=) c.345T>C (p.Ser115=) c.339T>C (p.Ser113=) | |
11 | g.128839956A>T | CA477703089 | KCNJ1 | c.288T>A (p.Ser96=) c.345T>A (p.Ser115=) c.339T>A (p.Ser113=) | |
11 | g.128839957G>A | CA383246217 | KCNJ1 | c.287C>T (p.Ser96Phe) c.344C>T (p.Ser115Phe) c.338C>T (p.Ser113Phe) | COSMIC |
11 | g.128839957G>C | CA383246219 | KCNJ1 | c.287C>G (p.Ser96Cys) c.344C>G (p.Ser115Cys) c.338C>G (p.Ser113Cys) | |
11 | g.128839957G>T | CA383246221 | KCNJ1 | c.287C>A (p.Ser96Tyr) c.344C>A (p.Ser115Tyr) c.338C>A (p.Ser113Tyr) | |
11 | g.128839958A>C | CA383246224 | KCNJ1 | c.286T>G (p.Ser96Ala) c.343T>G (p.Ser115Ala) c.337T>G (p.Ser113Ala) | |
11 | g.128839958A>G | CA383246226 | KCNJ1 | c.286T>C (p.Ser96Pro) c.343T>C (p.Ser115Pro) c.337T>C (p.Ser113Pro) | |
11 | g.128839958A>T | CA383246229 | KCNJ1 | c.286T>A (p.Ser96Thr) c.343T>A (p.Ser115Thr) c.337T>A (p.Ser113Thr) | |
11 | g.128839959A>C | CA477703091 | KCNJ1 | c.285T>G (p.Pro95=) c.342T>G (p.Pro114=) c.336T>G (p.Pro112=) | |
11 | g.128839959A>G | CA477703093 | KCNJ1 | c.285T>C (p.Pro95=) c.342T>C (p.Pro114=) c.336T>C (p.Pro112=) | |
11 | g.128839959A>T | CA477703094 | KCNJ1 | c.285T>A (p.Pro95=) c.342T>A (p.Pro114=) c.336T>A (p.Pro112=) | |
11 | g.128839960G>A | CA6357541 | KCNJ1 | c.284C>T (p.Pro95Leu) c.341C>T (p.Pro114Leu) c.335C>T (p.Pro112Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839960G>C | CA383246232 | KCNJ1 | c.284C>G (p.Pro95Arg) c.341C>G (p.Pro114Arg) c.335C>G (p.Pro112Arg) | |
11 | g.128839960G= | CA2008251422 | KCNJ1 | c.284C= (p.Pro95=) c.341C= (p.Pro114=) c.335C= (p.Pro112=) | |
11 | g.128839960G>T | CA383246235 | KCNJ1 | c.284C>A (p.Pro95His) c.341C>A (p.Pro114His) c.335C>A (p.Pro112His) |