Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839941G>ACA477703065KCNJ1c.303C>T (p.Pro101=)
c.360C>T (p.Pro120=)
c.354C>T (p.Pro118=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839941G>CCA477703066KCNJ1c.303C>G (p.Pro101=)
c.360C>G (p.Pro120=)
c.354C>G (p.Pro118=)
gnomAD v4
11g.128839941G=CA2008251378KCNJ1c.303C= (p.Pro101=)
c.360C= (p.Pro120=)
c.354C= (p.Pro118=)
11g.128839941G>TCA477703064KCNJ1c.303C>A (p.Pro101=)
c.360C>A (p.Pro120=)
c.354C>A (p.Pro118=)
11g.128839943delCA2616771386KCNJ1c.303del (p.Cys102ValfsTer8)
c.360del (p.Cys121ValfsTer8)
c.354del (p.Cys119ValfsTer8)
gnomAD v4
11g.128839942G>ACA230628822KCNJ1c.302C>T (p.Pro101Leu)
c.359C>T (p.Pro120Leu)
c.353C>T (p.Pro118Leu)
ClinVar dbSNP gnomAD v4
11g.128839942G>CCA383246135KCNJ1c.302C>G (p.Pro101Arg)
c.359C>G (p.Pro120Arg)
c.353C>G (p.Pro118Arg)
11g.128839942G=CA2008251386KCNJ1c.302C= (p.Pro101=)
c.359C= (p.Pro120=)
c.353C= (p.Pro118=)
11g.128839942G>TCA383246149KCNJ1c.302C>A (p.Pro101His)
c.359C>A (p.Pro120His)
c.353C>A (p.Pro118His)
11g.128839943G>ACA383246152KCNJ1c.301C>T (p.Pro101Ser)
c.358C>T (p.Pro120Ser)
c.352C>T (p.Pro118Ser)
dbSNP gnomAD v4
11g.128839943G>CCA383246153KCNJ1c.301C>G (p.Pro101Ala)
c.358C>G (p.Pro120Ala)
c.352C>G (p.Pro118Ala)
11g.128839943G=CA2008251393KCNJ1c.301C= (p.Pro101=)
c.358C= (p.Pro120=)
c.352C= (p.Pro118=)
11g.128839943G>TCA383246154KCNJ1c.301C>A (p.Pro101Thr)
c.358C>A (p.Pro120Thr)
c.352C>A (p.Pro118Thr)
11g.128839943_128839955delinsGAGTGTGATTGGCCA2008251390KCNJ1c.289_301delinsGCCAATCACACTC (p.Ala97=)
c.346_358delinsGCCAATCACACTC (p.Ala116=)
c.340_352delinsGCCAATCACACTC (p.Ala114=)
11g.128839944A>CCA477703070KCNJ1c.300T>G (p.Thr100=)
c.357T>G (p.Thr119=)
c.351T>G (p.Thr117=)
gnomAD v4
11g.128839944A>GCA477703072KCNJ1c.300T>C (p.Thr100=)
c.357T>C (p.Thr119=)
c.351T>C (p.Thr117=)
11g.128839944A>TCA477703071KCNJ1c.300T>A (p.Thr100=)
c.357T>A (p.Thr119=)
c.351T>A (p.Thr117=)
11g.128839946_128839957delCA6357536KCNJ1c.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
11g.128839945G>ACA383246164KCNJ1c.299C>T (p.Thr100Ile)
c.356C>T (p.Thr119Ile)
c.350C>T (p.Thr117Ile)
11g.128839945G>CCA383246159KCNJ1c.299C>G (p.Thr100Ser)
c.356C>G (p.Thr119Ser)
c.350C>G (p.Thr117Ser)
11g.128839945G>TCA383246162KCNJ1c.299C>A (p.Thr100Asn)
c.356C>A (p.Thr119Asn)
c.350C>A (p.Thr117Asn)
11g.128839946T>ACA383246166KCNJ1c.298A>T (p.Thr100Ser)
c.355A>T (p.Thr119Ser)
c.349A>T (p.Thr117Ser)
11g.128839946T>CCA6357537KCNJ1c.298A>G (p.Thr100Ala)
c.355A>G (p.Thr119Ala)
c.349A>G (p.Thr117Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839946T>GCA383246171KCNJ1c.298A>C (p.Thr100Pro)
c.355A>C (p.Thr119Pro)
c.349A>C (p.Thr117Pro)
11g.128839946T=CA2008251397KCNJ1c.298A= (p.Thr100=)
c.355A= (p.Thr119=)
c.349A= (p.Thr117=)
11g.128839947G>ACA477703074KCNJ1c.297C>T (p.His99=)
c.354C>T (p.His118=)
c.348C>T (p.His116=)
dbSNP gnomAD v2 gnomAD v4
11g.128839947G>CCA383246173KCNJ1c.297C>G (p.His99Gln)
c.354C>G (p.His118Gln)
c.348C>G (p.His116Gln)
11g.128839947G=CA2008251401KCNJ1c.297C= (p.His99=)
c.354C= (p.His118=)
c.348C= (p.His116=)
11g.128839947G>TCA383246175KCNJ1c.297C>A (p.His99Gln)
c.354C>A (p.His118Gln)
c.348C>A (p.His116Gln)
11g.128839948T>ACA383246179KCNJ1c.296A>T (p.His99Leu)
c.353A>T (p.His118Leu)
c.347A>T (p.His116Leu)
11g.128839948T>CCA6357538KCNJ1c.296A>G (p.His99Arg)
c.353A>G (p.His118Arg)
c.347A>G (p.His116Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839948T>GCA383246181KCNJ1c.296A>C (p.His99Pro)
c.353A>C (p.His118Pro)
c.347A>C (p.His116Pro)
11g.128839948T=CA2008251405KCNJ1c.296A= (p.His99=)
c.353A= (p.His118=)
c.347A= (p.His116=)
11g.128839949G>ACA6357539KCNJ1c.295C>T (p.His99Tyr)
c.352C>T (p.His118Tyr)
c.346C>T (p.His116Tyr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839949G>CCA383246186KCNJ1c.295C>G (p.His99Asp)
c.352C>G (p.His118Asp)
c.346C>G (p.His116Asp)
11g.128839949G=CA2008251408KCNJ1c.295C= (p.His99=)
c.352C= (p.His118=)
c.346C= (p.His116=)
11g.128839949G>TCA383246188KCNJ1c.295C>A (p.His99Asn)
c.352C>A (p.His118Asn)
c.346C>A (p.His116Asn)
11g.128839950A>CCA383246193KCNJ1c.294T>G (p.Asn98Lys)
c.351T>G (p.Asn117Lys)
c.345T>G (p.Asn115Lys)
ClinVar gnomAD v4
11g.128839950A>GCA477703075KCNJ1c.294T>C (p.Asn98=)
c.351T>C (p.Asn117=)
c.345T>C (p.Asn115=)
11g.128839950A>TCA383246195KCNJ1c.294T>A (p.Asn98Lys)
c.351T>A (p.Asn117Lys)
c.345T>A (p.Asn115Lys)
11g.128839951T>ACA383246197KCNJ1c.293A>T (p.Asn98Ile)
c.350A>T (p.Asn117Ile)
c.344A>T (p.Asn115Ile)
11g.128839951T>CCA6357540KCNJ1c.293A>G (p.Asn98Ser)
c.350A>G (p.Asn117Ser)
c.344A>G (p.Asn115Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839951T>GCA383246196KCNJ1c.293A>C (p.Asn98Thr)
c.350A>C (p.Asn117Thr)
c.344A>C (p.Asn115Thr)
gnomAD v4
11g.128839951T=CA2008251415KCNJ1c.293A= (p.Asn98=)
c.350A= (p.Asn117=)
c.344A= (p.Asn115=)
11g.128839952T>ACA383246202KCNJ1c.292A>T (p.Asn98Tyr)
c.349A>T (p.Asn117Tyr)
c.343A>T (p.Asn115Tyr)
11g.128839952T>CCA383246199KCNJ1c.292A>G (p.Asn98Asp)
c.349A>G (p.Asn117Asp)
c.343A>G (p.Asn115Asp)
11g.128839952T>GCA383246200KCNJ1c.292A>C (p.Asn98His)
c.349A>C (p.Asn117His)
c.343A>C (p.Asn115His)
11g.128839953G>ACA477703079KCNJ1c.291C>T (p.Ala97=)
c.348C>T (p.Ala116=)
c.342C>T (p.Ala114=)
gnomAD v4
11g.128839953G>CCA477703081KCNJ1c.291C>G (p.Ala97=)
c.348C>G (p.Ala116=)
c.342C>G (p.Ala114=)
11g.128839953G>TCA477703082KCNJ1c.291C>A (p.Ala97=)
c.348C>A (p.Ala116=)
c.342C>A (p.Ala114=)
11g.128839954G>ACA383246207KCNJ1c.290C>T (p.Ala97Val)
c.347C>T (p.Ala116Val)
c.341C>T (p.Ala114Val)
11g.128839954G>CCA383246209KCNJ1c.290C>G (p.Ala97Gly)
c.347C>G (p.Ala116Gly)
c.341C>G (p.Ala114Gly)
COSMIC
11g.128839954G>TCA383246210KCNJ1c.290C>A (p.Ala97Asp)
c.347C>A (p.Ala116Asp)
c.341C>A (p.Ala114Asp)
11g.128839955C>ACA383246215KCNJ1c.289G>T (p.Ala97Ser)
c.346G>T (p.Ala116Ser)
c.340G>T (p.Ala114Ser)
dbSNP gnomAD v4
11g.128839955C=CA2008251418KCNJ1c.289G= (p.Ala97=)
c.346G= (p.Ala116=)
c.340G= (p.Ala114=)
11g.128839955C>GCA383246214KCNJ1c.289G>C (p.Ala97Pro)
c.346G>C (p.Ala116Pro)
c.340G>C (p.Ala114Pro)
11g.128839955C>TCA383246213KCNJ1c.289G>A (p.Ala97Thr)
c.346G>A (p.Ala116Thr)
c.340G>A (p.Ala114Thr)
dbSNP gnomAD v3 gnomAD v4
11g.128839956A>CCA477703087KCNJ1c.288T>G (p.Ser96=)
c.345T>G (p.Ser115=)
c.339T>G (p.Ser113=)
11g.128839956A>GCA477703088KCNJ1c.288T>C (p.Ser96=)
c.345T>C (p.Ser115=)
c.339T>C (p.Ser113=)
11g.128839956A>TCA477703089KCNJ1c.288T>A (p.Ser96=)
c.345T>A (p.Ser115=)
c.339T>A (p.Ser113=)
11g.128839957G>ACA383246217KCNJ1c.287C>T (p.Ser96Phe)
c.344C>T (p.Ser115Phe)
c.338C>T (p.Ser113Phe)
COSMIC
11g.128839957G>CCA383246219KCNJ1c.287C>G (p.Ser96Cys)
c.344C>G (p.Ser115Cys)
c.338C>G (p.Ser113Cys)
11g.128839957G>TCA383246221KCNJ1c.287C>A (p.Ser96Tyr)
c.344C>A (p.Ser115Tyr)
c.338C>A (p.Ser113Tyr)
11g.128839958A>CCA383246224KCNJ1c.286T>G (p.Ser96Ala)
c.343T>G (p.Ser115Ala)
c.337T>G (p.Ser113Ala)
11g.128839958A>GCA383246226KCNJ1c.286T>C (p.Ser96Pro)
c.343T>C (p.Ser115Pro)
c.337T>C (p.Ser113Pro)
11g.128839958A>TCA383246229KCNJ1c.286T>A (p.Ser96Thr)
c.343T>A (p.Ser115Thr)
c.337T>A (p.Ser113Thr)
11g.128839959A>CCA477703091KCNJ1c.285T>G (p.Pro95=)
c.342T>G (p.Pro114=)
c.336T>G (p.Pro112=)
11g.128839959A>GCA477703093KCNJ1c.285T>C (p.Pro95=)
c.342T>C (p.Pro114=)
c.336T>C (p.Pro112=)
11g.128839959A>TCA477703094KCNJ1c.285T>A (p.Pro95=)
c.342T>A (p.Pro114=)
c.336T>A (p.Pro112=)
11g.128839960G>ACA6357541KCNJ1c.284C>T (p.Pro95Leu)
c.341C>T (p.Pro114Leu)
c.335C>T (p.Pro112Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839960G>CCA383246232KCNJ1c.284C>G (p.Pro95Arg)
c.341C>G (p.Pro114Arg)
c.335C>G (p.Pro112Arg)
11g.128839960G=CA2008251422KCNJ1c.284C= (p.Pro95=)
c.341C= (p.Pro114=)
c.335C= (p.Pro112=)
11g.128839960G>TCA383246235KCNJ1c.284C>A (p.Pro95His)
c.341C>A (p.Pro114His)
c.335C>A (p.Pro112His)
11g.128839961G>ACA383246239KCNJ1c.283C>T (p.Pro95Ser)
c.340C>T (p.Pro114Ser)
c.334C>T (p.Pro112Ser)
11g.128839961G>CCA383246241KCNJ1c.283C>G (p.Pro95Ala)
c.340C>G (p.Pro114Ala)
c.334C>G (p.Pro112Ala)
11g.128839961G>TCA383246242KCNJ1c.283C>A (p.Pro95Thr)
c.340C>A (p.Pro114Thr)
c.334C>A (p.Pro112Thr)
11g.128839962A>CCA383246244KCNJ1c.282T>G (p.His94Gln)
c.339T>G (p.His113Gln)
c.333T>G (p.His111Gln)
11g.128839962A>GCA477703096KCNJ1c.282T>C (p.His94=)
c.339T>C (p.His113=)
c.333T>C (p.His111=)
11g.128839962A>TCA383246247KCNJ1c.282T>A (p.His94Gln)
c.339T>A (p.His113Gln)
c.333T>A (p.His111Gln)
11g.128839963T>ACA383246252KCNJ1c.281A>T (p.His94Leu)
c.338A>T (p.His113Leu)
c.332A>T (p.His111Leu)
11g.128839963T>CCA383246254KCNJ1c.281A>G (p.His94Arg)
c.338A>G (p.His113Arg)
c.332A>G (p.His111Arg)
11g.128839963T>GCA383246257KCNJ1c.281A>C (p.His94Pro)
c.338A>C (p.His113Pro)
c.332A>C (p.His111Pro)
11g.128839964G>ACA383246259KCNJ1c.280C>T (p.His94Tyr)
c.337C>T (p.His113Tyr)
c.331C>T (p.His111Tyr)
11g.128839964G>CCA383246264KCNJ1c.280C>G (p.His94Asp)
c.337C>G (p.His113Asp)
c.331C>G (p.His111Asp)
11g.128839964G=CA2008251427KCNJ1c.280C= (p.His94=)
c.337C= (p.His113=)
c.331C= (p.His111=)
11g.128839964G>TCA383246273KCNJ1c.280C>A (p.His94Asn)
c.337C>A (p.His113Asn)
c.331C>A (p.His111Asn)
dbSNP gnomAD v3 gnomAD v4
11g.128839965G>ACA477703098KCNJ1c.279C>T (p.Phe93=)
c.336C>T (p.Phe112=)
c.330C>T (p.Phe110=)
COSMIC
11g.128839965G>CCA383246276KCNJ1c.279C>G (p.Phe93Leu)
c.336C>G (p.Phe112Leu)
c.330C>G (p.Phe110Leu)
11g.128839965G>TCA383246282KCNJ1c.279C>A (p.Phe93Leu)
c.336C>A (p.Phe112Leu)
c.330C>A (p.Phe110Leu)
11g.128839966A>CCA383246284KCNJ1c.278T>G (p.Phe93Cys)
c.335T>G (p.Phe112Cys)
c.329T>G (p.Phe110Cys)
11g.128839966A>GCA383246294KCNJ1c.278T>C (p.Phe93Ser)
c.335T>C (p.Phe112Ser)
c.329T>C (p.Phe110Ser)
11g.128839966A>TCA383246286KCNJ1c.278T>A (p.Phe93Tyr)
c.335T>A (p.Phe112Tyr)
c.329T>A (p.Phe110Tyr)
11g.128839967A>CCA383246295KCNJ1c.277T>G (p.Phe93Val)
c.334T>G (p.Phe112Val)
c.328T>G (p.Phe110Val)
11g.128839967A>GCA383246296KCNJ1c.277T>C (p.Phe93Leu)
c.334T>C (p.Phe112Leu)
c.328T>C (p.Phe110Leu)
11g.128839967A>TCA383246298KCNJ1c.277T>A (p.Phe93Ile)
c.334T>A (p.Phe112Ile)
c.328T>A (p.Phe110Ile)
gnomAD v4
11g.128839968T>ACA383246302KCNJ1c.276A>T (p.Glu92Asp)
c.333A>T (p.Glu111Asp)
c.327A>T (p.Glu109Asp)
11g.128839968T>CCA477703103KCNJ1c.276A>G (p.Glu92=)
c.333A>G (p.Glu111=)
c.327A>G (p.Glu109=)
gnomAD v4
11g.128839968T>GCA383246303KCNJ1c.276A>C (p.Glu92Asp)
c.333A>C (p.Glu111Asp)
c.327A>C (p.Glu109Asp)
11g.128839969T>ACA383246313KCNJ1c.275A>T (p.Glu92Val)
c.332A>T (p.Glu111Val)
c.326A>T (p.Glu109Val)
11g.128839969T>CCA383246319KCNJ1c.275A>G (p.Glu92Gly)
c.332A>G (p.Glu111Gly)
c.326A>G (p.Glu109Gly)
11g.128839969T>GCA383246321KCNJ1c.275A>C (p.Glu92Ala)
c.332A>C (p.Glu111Ala)
c.326A>C (p.Glu109Ala)
11g.128839970C>ACA383246322KCNJ1c.274G>T (p.Glu92Ter)
c.331G>T (p.Glu111Ter)
c.325G>T (p.Glu109Ter)
11g.128839970C>GCA383246323KCNJ1c.274G>C (p.Glu92Gln)
c.331G>C (p.Glu111Gln)
c.325G>C (p.Glu109Gln)
gnomAD v4
11g.128839970C>TCA383246326KCNJ1c.274G>A (p.Glu92Lys)
c.331G>A (p.Glu111Lys)
c.325G>A (p.Glu109Lys)
COSMIC
11g.128839971C>ACA477703107KCNJ1c.273G>T (p.Pro91=)
c.330G>T (p.Pro110=)
c.324G>T (p.Pro108=)
11g.128839971C=CA2008251431KCNJ1c.273G= (p.Pro91=)
c.330G= (p.Pro110=)
c.324G= (p.Pro108=)
11g.128839971C>GCA477703105KCNJ1c.273G>C (p.Pro91=)
c.330G>C (p.Pro110=)
c.324G>C (p.Pro108=)
11g.128839971C>TCA6357542KCNJ1c.273G>A (p.Pro91=)
c.330G>A (p.Pro110=)
c.324G>A (p.Pro108=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839972G>ACA6357543KCNJ1c.272C>T (p.Pro91Leu)
c.329C>T (p.Pro110Leu)
c.323C>T (p.Pro108Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839972G>CCA383246345KCNJ1c.272C>G (p.Pro91Arg)
c.329C>G (p.Pro110Arg)
c.323C>G (p.Pro108Arg)
11g.128839972G=CA2008251442KCNJ1c.272C= (p.Pro91=)
c.329C= (p.Pro110=)
c.323C= (p.Pro108=)
11g.128839972G>TCA6357544KCNJ1c.272C>A (p.Pro91Gln)
c.329C>A (p.Pro110Gln)
c.323C>A (p.Pro108Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839973G>ACA383246350KCNJ1c.271C>T (p.Pro91Ser)
c.328C>T (p.Pro110Ser)
c.322C>T (p.Pro108Ser)
dbSNP gnomAD v4
11g.128839973G>CCA383246353KCNJ1c.271C>G (p.Pro91Ala)
c.328C>G (p.Pro110Ala)
c.322C>G (p.Pro108Ala)
11g.128839973G=CA2008251455KCNJ1c.271C= (p.Pro91=)
c.328C= (p.Pro110=)
c.322C= (p.Pro108=)
11g.128839973G>TCA383246355KCNJ1c.271C>A (p.Pro91Thr)
c.328C>A (p.Pro110Thr)
c.322C>A (p.Pro108Thr)
11g.128839974G>ACA6357545KCNJ1c.270C>T (p.Leu90=)
c.327C>T (p.Leu109=)
c.321C>T (p.Leu107=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839974G>CCA477703116KCNJ1c.270C>G (p.Leu90=)
c.327C>G (p.Leu109=)
c.321C>G (p.Leu107=)
11g.128839974G=CA2008251458KCNJ1c.270C= (p.Leu90=)
c.327C= (p.Leu109=)
c.321C= (p.Leu107=)
11g.128839974G>TCA477703115KCNJ1c.270C>A (p.Leu90=)
c.327C>A (p.Leu109=)
c.321C>A (p.Leu107=)
11g.128839975A>CCA383246363KCNJ1c.269T>G (p.Leu90Arg)
c.326T>G (p.Leu109Arg)
c.320T>G (p.Leu107Arg)
11g.128839975A>GCA383246366KCNJ1c.269T>C (p.Leu90Pro)
c.326T>C (p.Leu109Pro)
c.320T>C (p.Leu107Pro)
11g.128839975A>TCA383246368KCNJ1c.269T>A (p.Leu90His)
c.326T>A (p.Leu109His)
c.320T>A (p.Leu107His)
11g.128839976G>ACA383246371KCNJ1c.268C>T (p.Leu90Phe)
c.325C>T (p.Leu109Phe)
c.319C>T (p.Leu107Phe)
dbSNP gnomAD v2 gnomAD v4
11g.128839976G>CCA383246374KCNJ1c.268C>G (p.Leu90Val)
c.325C>G (p.Leu109Val)
c.319C>G (p.Leu107Val)
11g.128839976G=CA2008251461KCNJ1c.268C= (p.Leu90=)
c.325C= (p.Leu109=)
c.319C= (p.Leu107=)
11g.128839976G>TCA6357546KCNJ1c.268C>A (p.Leu90Ile)
c.325C>A (p.Leu109Ile)
c.319C>A (p.Leu107Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839977G>ACA230628913KCNJ1c.267C>T (p.Asp89=)
c.324C>T (p.Asp108=)
c.318C>T (p.Asp106=)
ClinVar dbSNP gnomAD v4
11g.128839977G>CCA6357547KCNJ1c.267C>G (p.Asp89Glu)
c.324C>G (p.Asp108Glu)
c.318C>G (p.Asp106Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839977G=CA2008251466KCNJ1c.267C= (p.Asp89=)
c.324C= (p.Asp108=)
c.318C= (p.Asp106=)
11g.128839977G>TCA230628922KCNJ1c.267C>A (p.Asp89Glu)
c.324C>A (p.Asp108Glu)
c.318C>A (p.Asp106Glu)
dbSNP
11g.128839978T>ACA383246392KCNJ1c.266A>T (p.Asp89Val)
c.323A>T (p.Asp108Val)
c.317A>T (p.Asp106Val)
11g.128839978T>CCA383246390KCNJ1c.266A>G (p.Asp89Gly)
c.323A>G (p.Asp108Gly)
c.317A>G (p.Asp106Gly)
dbSNP gnomAD v2 gnomAD v4
11g.128839978T>GCA383246388KCNJ1c.266A>C (p.Asp89Ala)
c.323A>C (p.Asp108Ala)
c.317A>C (p.Asp106Ala)
11g.128839978T=CA2008251471KCNJ1c.266A= (p.Asp89=)
c.323A= (p.Asp108=)
c.317A= (p.Asp106=)
11g.128839979C>ACA383246396KCNJ1c.265G>T (p.Asp89Tyr)
c.322G>T (p.Asp108Tyr)
c.316G>T (p.Asp106Tyr)
11g.128839979C=CA2008251478KCNJ1c.265G= (p.Asp89=)
c.322G= (p.Asp108=)
c.316G= (p.Asp106=)
11g.128839979C>GCA120162KCNJ1c.265G>C (p.Asp89His)
c.322G>C (p.Asp108His)
c.316G>C (p.Asp106His)
ClinVar dbSNP
11g.128839979C>TCA383246398KCNJ1c.265G>A (p.Asp89Asn)
c.322G>A (p.Asp108Asn)
c.316G>A (p.Asp106Asn)
COSMIC
11g.128839980T>ACA383246404KCNJ1c.264A>T (p.Lys88Asn)
c.321A>T (p.Lys107Asn)
c.315A>T (p.Lys105Asn)
11g.128839980T>CCA477703123KCNJ1c.264A>G (p.Lys88=)
c.321A>G (p.Lys107=)
c.315A>G (p.Lys105=)
11g.128839980T>GCA383246406KCNJ1c.264A>C (p.Lys88Asn)
c.321A>C (p.Lys107Asn)
c.315A>C (p.Lys105Asn)
gnomAD v4
11g.128839981T>ACA383246410KCNJ1c.263A>T (p.Lys88Ile)
c.320A>T (p.Lys107Ile)
c.314A>T (p.Lys105Ile)
11g.128839981T>CCA383246411KCNJ1c.263A>G (p.Lys88Arg)
c.320A>G (p.Lys107Arg)
c.314A>G (p.Lys105Arg)
11g.128839981T>GCA383246413KCNJ1c.263A>C (p.Lys88Thr)
c.320A>C (p.Lys107Thr)
c.314A>C (p.Lys105Thr)
11g.128839982T>ACA16043357KCNJ1c.262A>T (p.Lys88Ter)
c.319A>T (p.Lys107Ter)
c.313A>T (p.Lys105Ter)
ClinVar dbSNP
11g.128839982T>CCA216044KCNJ1c.262A>G (p.Lys88Glu)
c.319A>G (p.Lys107Glu)
c.313A>G (p.Lys105Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839982T>GCA383246421KCNJ1c.262A>C (p.Lys88Gln)
c.319A>C (p.Lys107Gln)
c.313A>C (p.Lys105Gln)
11g.128839982T=CA2008251487KCNJ1c.262A= (p.Lys88=)
c.319A= (p.Lys107=)
c.313A= (p.Lys105=)
11g.128839983G>ACA477703126KCNJ1c.261C>T (p.His87=)
c.318C>T (p.His106=)
c.312C>T (p.His104=)
dbSNP gnomAD v3 gnomAD v4
11g.128839983G>CCA383246424KCNJ1c.261C>G (p.His87Gln)
c.318C>G (p.His106Gln)
c.312C>G (p.His104Gln)
11g.128839983G=CA2008251494KCNJ1c.261C= (p.His87=)
c.318C= (p.His106=)
c.312C= (p.His104=)
11g.128839983G>TCA383246426KCNJ1c.261C>A (p.His87Gln)
c.318C>A (p.His106Gln)
c.312C>A (p.His104Gln)
11g.128839984T>ACA383246429KCNJ1c.260A>T (p.His87Leu)
c.317A>T (p.His106Leu)
c.311A>T (p.His104Leu)
11g.128839984T>CCA383246433KCNJ1c.260A>G (p.His87Arg)
c.317A>G (p.His106Arg)
c.311A>G (p.His104Arg)
11g.128839984T>GCA383246435KCNJ1c.260A>C (p.His87Pro)
c.317A>C (p.His106Pro)
c.311A>C (p.His104Pro)
11g.128839985G>ACA383246438KCNJ1c.259C>T (p.His87Tyr)
c.316C>T (p.His106Tyr)
c.310C>T (p.His104Tyr)
dbSNP
11g.128839985G>CCA383246437KCNJ1c.259C>G (p.His87Asp)
c.316C>G (p.His106Asp)
c.310C>G (p.His104Asp)
11g.128839985G=CA2008251498KCNJ1c.259C= (p.His87=)
c.316C= (p.His106=)
c.310C= (p.His104=)
11g.128839985G>TCA383246436KCNJ1c.259C>A (p.His87Asn)
c.316C>A (p.His106Asn)
c.310C>A (p.His104Asn)
11g.128839986A>CCA383246439KCNJ1c.258T>G (p.Ile86Met)
c.315T>G (p.Ile105Met)
c.309T>G (p.Ile103Met)
11g.128839986A>GCA477703130KCNJ1c.258T>C (p.Ile86=)
c.315T>C (p.Ile105=)
c.309T>C (p.Ile103=)
11g.128839986A>TCA477703131KCNJ1c.258T>A (p.Ile86=)
c.315T>A (p.Ile105=)
c.309T>A (p.Ile103=)
11g.128839987A>CCA383246442KCNJ1c.257T>G (p.Ile86Ser)
c.314T>G (p.Ile105Ser)
c.308T>G (p.Ile103Ser)
11g.128839987A>GCA383246444KCNJ1c.257T>C (p.Ile86Thr)
c.314T>C (p.Ile105Thr)
c.308T>C (p.Ile103Thr)
11g.128839987A>TCA383246446KCNJ1c.257T>A (p.Ile86Asn)
c.314T>A (p.Ile105Asn)
c.308T>A (p.Ile103Asn)
11g.128839988T>ACA383246450KCNJ1c.256A>T (p.Ile86Phe)
c.313A>T (p.Ile105Phe)
c.307A>T (p.Ile103Phe)
11g.128839988T>CCA230628959KCNJ1c.256A>G (p.Ile86Val)
c.313A>G (p.Ile105Val)
c.307A>G (p.Ile103Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839988T>GCA383246454KCNJ1c.256A>C (p.Ile86Leu)
c.313A>C (p.Ile105Leu)
c.307A>C (p.Ile103Leu)
11g.128839988T=CA2008251501KCNJ1c.256A= (p.Ile86=)
c.313A= (p.Ile105=)
c.307A= (p.Ile103=)
11g.128839989G>ACA477703136KCNJ1c.255C>T (p.Tyr85=)
c.312C>T (p.Tyr104=)
c.306C>T (p.Tyr102=)
11g.128839989G>CCA383246457KCNJ1c.255C>G (p.Tyr85Ter)
c.312C>G (p.Tyr104Ter)
c.306C>G (p.Tyr102Ter)
11g.128839989G>TCA383246459KCNJ1c.255C>A (p.Tyr85Ter)
c.312C>A (p.Tyr104Ter)
c.306C>A (p.Tyr102Ter)
11g.128839990T>ACA383246463KCNJ1c.254A>T (p.Tyr85Phe)
c.311A>T (p.Tyr104Phe)
c.305A>T (p.Tyr102Phe)
11g.128839990T>CCA383246465KCNJ1c.254A>G (p.Tyr85Cys)
c.311A>G (p.Tyr104Cys)
c.305A>G (p.Tyr102Cys)
11g.128839990T>GCA383246467KCNJ1c.254A>C (p.Tyr85Ser)
c.311A>C (p.Tyr104Ser)
c.305A>C (p.Tyr102Ser)
11g.128839991A>CCA383246475KCNJ1c.253T>G (p.Tyr85Asp)
c.310T>G (p.Tyr104Asp)
c.304T>G (p.Tyr102Asp)
gnomAD v4
11g.128839991A>GCA383246472KCNJ1c.253T>C (p.Tyr85His)
c.310T>C (p.Tyr104His)
c.304T>C (p.Tyr102His)
11g.128839991A>TCA383246470KCNJ1c.253T>A (p.Tyr85Asn)
c.310T>A (p.Tyr104Asn)
c.304T>A (p.Tyr102Asn)
11g.128839992C>ACA477703140KCNJ1c.252G>T (p.Ala84=)
c.309G>T (p.Ala103=)
c.303G>T (p.Ala101=)
11g.128839992C=CA2008251508KCNJ1c.252G= (p.Ala84=)
c.309G= (p.Ala103=)
c.303G= (p.Ala101=)
11g.128839992C>GCA477703141KCNJ1c.252G>C (p.Ala84=)
c.309G>C (p.Ala103=)
c.303G>C (p.Ala101=)
dbSNP
11g.128839992C>TCA6357548KCNJ1c.252G>A (p.Ala84=)
c.309G>A (p.Ala103=)
c.303G>A (p.Ala101=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839993G>ACA6357549KCNJ1c.251C>T (p.Ala84Val)
c.308C>T (p.Ala103Val)
c.302C>T (p.Ala101Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839993G>CCA383246479KCNJ1c.251C>G (p.Ala84Gly)
c.308C>G (p.Ala103Gly)
c.302C>G (p.Ala101Gly)
11g.128839993G=CA2008251515KCNJ1c.251C= (p.Ala84=)
c.308C= (p.Ala103=)
c.302C= (p.Ala101=)
11g.128839993G>TCA383246482KCNJ1c.251C>A (p.Ala84Glu)
c.308C>A (p.Ala103Glu)
c.302C>A (p.Ala101Glu)
dbSNP
11g.128839994C>ACA383246485KCNJ1c.250G>T (p.Ala84Ser)
c.307G>T (p.Ala103Ser)
c.301G>T (p.Ala101Ser)
11g.128839994C>GCA383246488KCNJ1c.250G>C (p.Ala84Pro)
c.307G>C (p.Ala103Pro)
c.301G>C (p.Ala101Pro)
11g.128839994C>TCA383246490KCNJ1c.250G>A (p.Ala84Thr)
c.307G>A (p.Ala103Thr)
c.301G>A (p.Ala101Thr)
11g.128839995T>ACA477703145KCNJ1c.249A>T (p.Val83=)
c.306A>T (p.Val102=)
c.300A>T (p.Val100=)
11g.128839995T>CCA477703146KCNJ1c.249A>G (p.Val83=)
c.306A>G (p.Val102=)
c.300A>G (p.Val100=)
11g.128839995T>GCA477703147KCNJ1c.249A>C (p.Val83=)
c.306A>C (p.Val102=)
c.300A>C (p.Val100=)
11g.128839996A=CA2008251522KCNJ1c.248T= (p.Val83=)
c.305T= (p.Val102=)
c.299T= (p.Val100=)
11g.128839996A>CCA6357550KCNJ1c.248T>G (p.Val83Gly)
c.305T>G (p.Val102Gly)
c.299T>G (p.Val100Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839996A>GCA383246495KCNJ1c.248T>C (p.Val83Ala)
c.305T>C (p.Val102Ala)
c.299T>C (p.Val100Ala)
gnomAD v4
11g.128839996A>TCA383246497KCNJ1c.248T>A (p.Val83Glu)
c.305T>A (p.Val102Glu)
c.299T>A (p.Val100Glu)
11g.128839997C>ACA383246499KCNJ1c.247G>T (p.Val83Leu)
c.304G>T (p.Val102Leu)
c.298G>T (p.Val100Leu)
11g.128839997C>GCA383246501KCNJ1c.247G>C (p.Val83Leu)
c.304G>C (p.Val102Leu)
c.298G>C (p.Val100Leu)
11g.128839997C>TCA383246503KCNJ1c.247G>A (p.Val83Ile)
c.304G>A (p.Val102Ile)
c.298G>A (p.Val100Ile)
11g.128839998T>ACA477703153KCNJ1c.246A>T (p.Ala82=)
c.303A>T (p.Ala101=)
c.297A>T (p.Ala99=)
11g.128839998T>CCA230628973KCNJ1c.246A>G (p.Ala82=)
c.303A>G (p.Ala101=)
c.297A>G (p.Ala99=)
dbSNP
11g.128839998T>GCA477703155KCNJ1c.246A>C (p.Ala82=)
c.303A>C (p.Ala101=)
c.297A>C (p.Ala99=)
11g.128839998T=CA2008251525KCNJ1c.246A= (p.Ala82=)
c.303A= (p.Ala101=)
c.297A= (p.Ala99=)
11g.128839999G>ACA383246507KCNJ1c.245C>T (p.Ala82Val)
c.302C>T (p.Ala101Val)
c.296C>T (p.Ala99Val)
gnomAD v4
11g.128839999G>CCA383246511KCNJ1c.245C>G (p.Ala82Gly)
c.302C>G (p.Ala101Gly)
c.296C>G (p.Ala99Gly)
11g.128839999G>TCA383246509KCNJ1c.245C>A (p.Ala82Glu)
c.302C>A (p.Ala101Glu)
c.296C>A (p.Ala99Glu)
11g.128840000C>ACA383246514KCNJ1c.244G>T (p.Ala82Ser)
c.301G>T (p.Ala101Ser)
c.295G>T (p.Ala99Ser)
gnomAD v4
11g.128840000C>GCA383246516KCNJ1c.244G>C (p.Ala82Pro)
c.301G>C (p.Ala101Pro)
c.295G>C (p.Ala99Pro)
11g.128840000C>TCA383246518KCNJ1c.244G>A (p.Ala82Thr)
c.301G>A (p.Ala101Thr)
c.295G>A (p.Ala99Thr)
gnomAD v4
11g.128840001A=CA2008251539KCNJ1c.243T= (p.Tyr81=)
c.300T= (p.Tyr100=)
c.294T= (p.Tyr98=)
11g.128840001A>CCA383246520KCNJ1c.243T>G (p.Tyr81Ter)
c.300T>G (p.Tyr100Ter)
c.294T>G (p.Tyr98Ter)
gnomAD v4
11g.128840001A>GCA477703158KCNJ1c.243T>C (p.Tyr81=)
c.300T>C (p.Tyr100=)
c.294T>C (p.Tyr98=)
dbSNP
11g.128840001A>TCA383246523KCNJ1c.243T>A (p.Tyr81Ter)
c.300T>A (p.Tyr100Ter)
c.294T>A (p.Tyr98Ter)
11g.128840002T>ACA383246526KCNJ1c.242A>T (p.Tyr81Phe)
c.299A>T (p.Tyr100Phe)
c.293A>T (p.Tyr98Phe)
11g.128840002T>CCA216041KCNJ1c.242A>G (p.Tyr81Cys)
c.299A>G (p.Tyr100Cys)
c.293A>G (p.Tyr98Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840002T>GCA383246530KCNJ1c.242A>C (p.Tyr81Ser)
c.299A>C (p.Tyr100Ser)
c.293A>C (p.Tyr98Ser)
11g.128840002T=CA2008251547KCNJ1c.242A= (p.Tyr81=)
c.299A= (p.Tyr100=)
c.293A= (p.Tyr98=)
11g.128840002_128840004delinsAAGCA2825002003KCNJ1c.240_242delinsCTT (p.Trp80_Tyr81delinsCysPhe)
c.297_299delinsCTT (p.Trp99_Tyr100delinsCysPhe)
c.291_293delinsCTT (p.Trp97_Tyr98delinsCysPhe)
ClinVar
11g.128840003A>CCA383246535KCNJ1c.241T>G (p.Tyr81Asp)
c.298T>G (p.Tyr100Asp)
c.292T>G (p.Tyr98Asp)
11g.128840003A>GCA383246538KCNJ1c.241T>C (p.Tyr81His)
c.298T>C (p.Tyr100His)
c.292T>C (p.Tyr98His)
ClinVar
11g.128840003A>TCA383246540KCNJ1c.241T>A (p.Tyr81Asn)
c.298T>A (p.Tyr100Asn)
c.292T>A (p.Tyr98Asn)
11g.128840004C>ACA383246548KCNJ1c.240G>T (p.Trp80Cys)
c.297G>T (p.Trp99Cys)
c.291G>T (p.Trp97Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840004C=CA2008251552KCNJ1c.240G= (p.Trp80=)
c.297G= (p.Trp99=)
c.291G= (p.Trp97=)
11g.128840004C>GCA383246546KCNJ1c.240G>C (p.Trp80Cys)
c.297G>C (p.Trp99Cys)
c.291G>C (p.Trp97Cys)
11g.128840004C>TCA383246545KCNJ1c.240G>A (p.Trp80Ter)
c.297G>A (p.Trp99Ter)
c.291G>A (p.Trp97Ter)
ClinVar gnomAD v4
11g.128840005C>ACA383246552KCNJ1c.239G>T (p.Trp80Leu)
c.296G>T (p.Trp99Leu)
c.290G>T (p.Trp97Leu)
11g.128840005C=CA2008251557KCNJ1c.239G= (p.Trp80=)
c.296G= (p.Trp99=)
c.290G= (p.Trp97=)
11g.128840005C>GCA383246551KCNJ1c.239G>C (p.Trp80Ser)
c.296G>C (p.Trp99Ser)
c.290G>C (p.Trp97Ser)
11g.128840005C>TCA230628976KCNJ1c.239G>A (p.Trp80Ter)
c.296G>A (p.Trp99Ter)
c.290G>A (p.Trp97Ter)
dbSNP gnomAD v4
11g.128840006A=CA2008251560KCNJ1c.238T= (p.Trp80=)
c.295T= (p.Trp99=)
c.289T= (p.Trp97=)
11g.128840006A>CCA383246558KCNJ1c.238T>G (p.Trp80Gly)
c.295T>G (p.Trp99Gly)
c.289T>G (p.Trp97Gly)
11g.128840006A>GCA6357551KCNJ1c.238T>C (p.Trp80Arg)
c.295T>C (p.Trp99Arg)
c.289T>C (p.Trp97Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128840006A>TCA383246562KCNJ1c.238T>A (p.Trp80Arg)
c.295T>A (p.Trp99Arg)
c.289T>A (p.Trp97Arg)
11g.128840007C>ACA477703165KCNJ1c.237G>T (p.Leu79=)
c.294G>T (p.Leu98=)
c.288G>T (p.Leu96=)
gnomAD v4
11g.128840007C>GCA477703166KCNJ1c.237G>C (p.Leu79=)
c.294G>C (p.Leu98=)
c.288G>C (p.Leu96=)
11g.128840007C>TCA477703167KCNJ1c.237G>A (p.Leu79=)
c.294G>A (p.Leu98=)
c.288G>A (p.Leu96=)
11g.128840008A>CCA383246566KCNJ1c.236T>G (p.Leu79Arg)
c.293T>G (p.Leu98Arg)
c.287T>G (p.Leu96Arg)
11g.128840008A>GCA383246569KCNJ1c.236T>C (p.Leu79Pro)
c.293T>C (p.Leu98Pro)
c.287T>C (p.Leu96Pro)
11g.128840008A>TCA383246572KCNJ1c.236T>A (p.Leu79Gln)
c.293T>A (p.Leu98Gln)
c.287T>A (p.Leu96Gln)
11g.128840009G>ACA477703168KCNJ1c.235C>T (p.Leu79=)
c.292C>T (p.Leu98=)
c.286C>T (p.Leu96=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840009G>CCA383246578KCNJ1c.235C>G (p.Leu79Val)
c.292C>G (p.Leu98Val)
c.286C>G (p.Leu96Val)
11g.128840009G=CA2008251564KCNJ1c.235C= (p.Leu79=)
c.292C= (p.Leu98=)
c.286C= (p.Leu96=)
11g.128840009G>TCA383246575KCNJ1c.235C>A (p.Leu79Met)
c.292C>A (p.Leu98Met)
c.286C>A (p.Leu96Met)
11g.128840010G>ACA477703171KCNJ1c.234C>T (p.Leu78=)
c.291C>T (p.Leu97=)
c.285C>T (p.Leu95=)
COSMIC
11g.128840010G>CCA477703172KCNJ1c.234C>G (p.Leu78=)
c.291C>G (p.Leu97=)
c.285C>G (p.Leu95=)
11g.128840010G>TCA477703169KCNJ1c.234C>A (p.Leu78=)
c.291C>A (p.Leu97=)
c.285C>A (p.Leu95=)
11g.128840011A>CCA383246581KCNJ1c.233T>G (p.Leu78Arg)
c.290T>G (p.Leu97Arg)
c.284T>G (p.Leu95Arg)
11g.128840011A>GCA383246584KCNJ1c.233T>C (p.Leu78Pro)
c.290T>C (p.Leu97Pro)
c.284T>C (p.Leu95Pro)
11g.128840011A>TCA383246586KCNJ1c.233T>A (p.Leu78His)
c.290T>A (p.Leu97His)
c.284T>A (p.Leu95His)
11g.128840012G>ACA383246589KCNJ1c.232C>T (p.Leu78Phe)
c.289C>T (p.Leu97Phe)
c.283C>T (p.Leu95Phe)
gnomAD v4
11g.128840012G>CCA383246591KCNJ1c.232C>G (p.Leu78Val)
c.289C>G (p.Leu97Val)
c.283C>G (p.Leu95Val)
dbSNP
11g.128840012G=CA2008251567KCNJ1c.232C= (p.Leu78=)
c.289C= (p.Leu97=)
c.283C= (p.Leu95=)
11g.128840012G>TCA383246593KCNJ1c.232C>A (p.Leu78Ile)
c.289C>A (p.Leu97Ile)
c.283C>A (p.Leu95Ile)
dbSNP gnomAD v3 gnomAD v4
11g.128840013A>CCA477703179KCNJ1c.231T>G (p.Gly77=)
c.288T>G (p.Gly96=)
c.282T>G (p.Gly94=)
11g.128840013A>GCA477703177KCNJ1c.231T>C (p.Gly77=)
c.288T>C (p.Gly96=)
c.282T>C (p.Gly94=)
11g.128840013A>TCA477703178KCNJ1c.231T>A (p.Gly77=)
c.288T>A (p.Gly96=)
c.282T>A (p.Gly94=)
gnomAD v4
11g.128840014C>ACA383246597KCNJ1c.230G>T (p.Gly77Val)
c.287G>T (p.Gly96Val)
c.281G>T (p.Gly94Val)
11g.128840014C=CA2008251577KCNJ1c.230G= (p.Gly77=)
c.287G= (p.Gly96=)
c.281G= (p.Gly94=)
11g.128840014C>GCA383246602KCNJ1c.230G>C (p.Gly77Ala)
c.287G>C (p.Gly96Ala)
c.281G>C (p.Gly94Ala)
11g.128840014C>TCA383246599KCNJ1c.230G>A (p.Gly77Asp)
c.287G>A (p.Gly96Asp)
c.281G>A (p.Gly94Asp)
dbSNP gnomAD v3 gnomAD v4
11g.128840015C>ACA383246605KCNJ1c.229G>T (p.Gly77Cys)
c.286G>T (p.Gly96Cys)
c.280G>T (p.Gly94Cys)
11g.128840015C>GCA383246612KCNJ1c.229G>C (p.Gly77Arg)
c.286G>C (p.Gly96Arg)
c.280G>C (p.Gly94Arg)
11g.128840015C>TCA383246616KCNJ1c.229G>A (p.Gly77Ser)
c.286G>A (p.Gly96Ser)
c.280G>A (p.Gly94Ser)
11g.128840016A>CCA383246619KCNJ1c.228T>G (p.Phe76Leu)
c.285T>G (p.Phe95Leu)
c.279T>G (p.Phe93Leu)
11g.128840016A>GCA477703183KCNJ1c.228T>C (p.Phe76=)
c.285T>C (p.Phe95=)
c.279T>C (p.Phe93=)
11g.128840016A>TCA383246622KCNJ1c.228T>A (p.Phe76Leu)
c.285T>A (p.Phe95Leu)
c.279T>A (p.Phe93Leu)
11g.128840017A>CCA383246625KCNJ1c.227T>G (p.Phe76Cys)
c.284T>G (p.Phe95Cys)
c.278T>G (p.Phe93Cys)
11g.128840017A>GCA383246628KCNJ1c.227T>C (p.Phe76Ser)
c.284T>C (p.Phe95Ser)
c.278T>C (p.Phe93Ser)
gnomAD v4
11g.128840017A>TCA383246630KCNJ1c.227T>A (p.Phe76Tyr)
c.284T>A (p.Phe95Tyr)
c.278T>A (p.Phe93Tyr)
11g.128840018A=CA2008251580KCNJ1c.226T= (p.Phe76=)
c.283T= (p.Phe95=)
c.277T= (p.Phe93=)
11g.128840018A>CCA383246634KCNJ1c.226T>G (p.Phe76Val)
c.283T>G (p.Phe95Val)
c.277T>G (p.Phe93Val)
dbSNP gnomAD v3 gnomAD v4
11g.128840018A>GCA383246637KCNJ1c.226T>C (p.Phe76Leu)
c.283T>C (p.Phe95Leu)
c.277T>C (p.Phe93Leu)
11g.128840018A>TCA383246639KCNJ1c.226T>A (p.Phe76Ile)
c.283T>A (p.Phe95Ile)
c.277T>A (p.Phe93Ile)
11g.128840019G>ACA477703187KCNJ1c.225C>T (p.Phe75=)
c.282C>T (p.Phe94=)
c.276C>T (p.Phe92=)
ClinVar
11g.128840019G>CCA383246641KCNJ1c.225C>G (p.Phe75Leu)
c.282C>G (p.Phe94Leu)
c.276C>G (p.Phe92Leu)
11g.128840019G>TCA383246644KCNJ1c.225C>A (p.Phe75Leu)
c.282C>A (p.Phe94Leu)
c.276C>A (p.Phe92Leu)
11g.128840020A=CA2008251583KCNJ1c.224T= (p.Phe75=)
c.281T= (p.Phe94=)
c.275T= (p.Phe92=)
11g.128840020A>CCA383246648KCNJ1c.224T>G (p.Phe75Cys)
c.281T>G (p.Phe94Cys)
c.275T>G (p.Phe92Cys)
11g.128840020A>GCA230629000KCNJ1c.224T>C (p.Phe75Ser)
c.281T>C (p.Phe94Ser)
c.275T>C (p.Phe92Ser)
dbSNP gnomAD v3 gnomAD v4
11g.128840020A>TCA383246651KCNJ1c.224T>A (p.Phe75Tyr)
c.281T>A (p.Phe94Tyr)
c.275T>A (p.Phe92Tyr)
11g.128840021A>CCA383246654KCNJ1c.223T>G (p.Phe75Val)
c.280T>G (p.Phe94Val)
c.274T>G (p.Phe92Val)
11g.128840021A>GCA383246656KCNJ1c.223T>C (p.Phe75Leu)
c.280T>C (p.Phe94Leu)
c.274T>C (p.Phe92Leu)
11g.128840021A>TCA383246657KCNJ1c.223T>A (p.Phe75Ile)
c.280T>A (p.Phe94Ile)
c.274T>A (p.Phe92Ile)
11g.128840022A>CCA383246661KCNJ1c.222T>G (p.Phe74Leu)
c.279T>G (p.Phe93Leu)
c.273T>G (p.Phe91Leu)
11g.128840022A>GCA477703190KCNJ1c.222T>C (p.Phe74=)
c.279T>C (p.Phe93=)
c.273T>C (p.Phe91=)
11g.128840022A>TCA383246659KCNJ1c.222T>A (p.Phe74Leu)
c.279T>A (p.Phe93Leu)
c.273T>A (p.Phe91Leu)
11g.128840023A=CA2008251588KCNJ1c.221T= (p.Phe74=)
c.278T= (p.Phe93=)
c.272T= (p.Phe91=)
11g.128840023A>CCA383246663KCNJ1c.221T>G (p.Phe74Cys)
c.278T>G (p.Phe93Cys)
c.272T>G (p.Phe91Cys)
11g.128840023A>GCA383246665KCNJ1c.221T>C (p.Phe74Ser)
c.278T>C (p.Phe93Ser)
c.272T>C (p.Phe91Ser)
dbSNP gnomAD v2 gnomAD v4
11g.128840023A>TCA383246666KCNJ1c.221T>A (p.Phe74Tyr)
c.278T>A (p.Phe93Tyr)
c.272T>A (p.Phe91Tyr)
11g.128840024A=CA2008251593KCNJ1c.220T= (p.Phe74=)
c.277T= (p.Phe93=)
c.271T= (p.Phe91=)
11g.128840024A>CCA6357552KCNJ1c.220T>G (p.Phe74Val)
c.277T>G (p.Phe93Val)
c.271T>G (p.Phe91Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128840024A>GCA383246670KCNJ1c.220T>C (p.Phe74Leu)
c.277T>C (p.Phe93Leu)
c.271T>C (p.Phe91Leu)
11g.128840024A>TCA383246672KCNJ1c.220T>A (p.Phe74Ile)
c.277T>A (p.Phe93Ile)
c.271T>A (p.Phe91Ile)
11g.128840025C>ACA383246675KCNJ1c.219G>T (p.Trp73Cys)
c.276G>T (p.Trp92Cys)
c.270G>T (p.Trp90Cys)
11g.128840025C=CA2008251598KCNJ1c.219G= (p.Trp73=)
c.276G= (p.Trp92=)
c.270G= (p.Trp90=)
11g.128840025C>GCA383246679KCNJ1c.219G>C (p.Trp73Cys)
c.276G>C (p.Trp92Cys)
c.270G>C (p.Trp90Cys)
11g.128840025C>TCA383246677KCNJ1c.219G>A (p.Trp73Ter)
c.276G>A (p.Trp92Ter)
c.270G>A (p.Trp90Ter)
dbSNP gnomAD v3 gnomAD v4
11g.128840026C>ACA383246681KCNJ1c.218G>T (p.Trp73Leu)
c.275G>T (p.Trp92Leu)
c.269G>T (p.Trp90Leu)
11g.128840026C>GCA383246683KCNJ1c.218G>C (p.Trp73Ser)
c.275G>C (p.Trp92Ser)
c.269G>C (p.Trp90Ser)
11g.128840026C>TCA383246685KCNJ1c.218G>A (p.Trp73Ter)
c.275G>A (p.Trp92Ter)
c.269G>A (p.Trp90Ter)
gnomAD v4
11g.128840027A>CCA383246687KCNJ1c.217T>G (p.Trp73Gly)
c.274T>G (p.Trp92Gly)
c.268T>G (p.Trp90Gly)
11g.128840027A>GCA383246689KCNJ1c.217T>C (p.Trp73Arg)
c.274T>C (p.Trp92Arg)
c.268T>C (p.Trp90Arg)
11g.128840027A>TCA383246691KCNJ1c.217T>A (p.Trp73Arg)
c.274T>A (p.Trp92Arg)
c.268T>A (p.Trp90Arg)
11g.128840028A>CCA383246693KCNJ1c.216T>G (p.Ser72Arg)
c.273T>G (p.Ser91Arg)
c.267T>G (p.Ser89Arg)
11g.128840028A>GCA477703200KCNJ1c.216T>C (p.Ser72=)
c.273T>C (p.Ser91=)
c.267T>C (p.Ser89=)
gnomAD v4
11g.128840028A>TCA383246695KCNJ1c.216T>A (p.Ser72Arg)
c.273T>A (p.Ser91Arg)
c.267T>A (p.Ser89Arg)
11g.128840029C>ACA383246697KCNJ1c.215G>T (p.Ser72Ile)
c.272G>T (p.Ser91Ile)
c.266G>T (p.Ser89Ile)
11g.128840029C=CA2008251600KCNJ1c.215G= (p.Ser72=)
c.272G= (p.Ser91=)
c.266G= (p.Ser89=)
11g.128840029C>GCA230629005KCNJ1c.215G>C (p.Ser72Thr)
c.272G>C (p.Ser91Thr)
c.266G>C (p.Ser89Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840029C>TCA383246699KCNJ1c.215G>A (p.Ser72Asn)
c.272G>A (p.Ser91Asn)
c.266G>A (p.Ser89Asn)
11g.128840030T>ACA383246705KCNJ1c.214A>T (p.Ser72Cys)
c.271A>T (p.Ser91Cys)
c.265A>T (p.Ser89Cys)
11g.128840030T>CCA383246702KCNJ1c.214A>G (p.Ser72Gly)
c.271A>G (p.Ser91Gly)
c.265A>G (p.Ser89Gly)
11g.128840030T>GCA383246701KCNJ1c.214A>C (p.Ser72Arg)
c.271A>C (p.Ser91Arg)
c.265A>C (p.Ser89Arg)
11g.128840031C>ACA477703206KCNJ1c.213G>T (p.Gly71=)
c.270G>T (p.Gly90=)
c.264G>T (p.Gly88=)
11g.128840031C>GCA477703208KCNJ1c.213G>C (p.Gly71=)
c.270G>C (p.Gly90=)
c.264G>C (p.Gly88=)
11g.128840031C>TCA477703207KCNJ1c.213G>A (p.Gly71=)
c.270G>A (p.Gly90=)
c.264G>A (p.Gly88=)
11g.128840034delCA2695215889KCNJ1c.213del (p.Ser72ValfsTer12)
c.270del (p.Ser91ValfsTer12)
c.264del (p.Ser89ValfsTer12)
11g.128840032C>ACA383246707KCNJ1c.212G>T (p.Gly71Val)
c.269G>T (p.Gly90Val)
c.263G>T (p.Gly88Val)
11g.128840032C>GCA383246709KCNJ1c.212G>C (p.Gly71Ala)
c.269G>C (p.Gly90Ala)
c.263G>C (p.Gly88Ala)
11g.128840032C>TCA383246710KCNJ1c.212G>A (p.Gly71Glu)
c.269G>A (p.Gly90Glu)
c.263G>A (p.Gly88Glu)
gnomAD v4
11g.128840033C>ACA383246713KCNJ1c.211G>T (p.Gly71Trp)
c.268G>T (p.Gly90Trp)
c.262G>T (p.Gly88Trp)
ClinVar gnomAD v4
11g.128840033C=CA2008251604KCNJ1c.211G= (p.Gly71=)
c.268G= (p.Gly90=)
c.262G= (p.Gly88=)
11g.128840033C>GCA383246715KCNJ1c.211G>C (p.Gly71Arg)
c.268G>C (p.Gly90Arg)
c.262G>C (p.Gly88Arg)
dbSNP gnomAD v2 gnomAD v4
11g.128840033C>TCA383246716KCNJ1c.211G>A (p.Gly71Arg)
c.268G>A (p.Gly90Arg)
c.262G>A (p.Gly88Arg)
11g.128840034C>ACA383246720KCNJ1c.210G>T (p.Leu70Phe)
c.267G>T (p.Leu89Phe)
c.261G>T (p.Leu87Phe)
11g.128840034C>GCA383246721KCNJ1c.210G>C (p.Leu70Phe)
c.267G>C (p.Leu89Phe)
c.261G>C (p.Leu87Phe)
11g.128840034C>TCA477703215KCNJ1c.210G>A (p.Leu70=)
c.267G>A (p.Leu89=)
c.261G>A (p.Leu87=)
ClinVar gnomAD v4
11g.128840035A>CCA383246724KCNJ1c.209T>G (p.Leu70Trp)
c.266T>G (p.Leu89Trp)
c.260T>G (p.Leu87Trp)
11g.128840035A>GCA383246728KCNJ1c.209T>C (p.Leu70Ser)
c.266T>C (p.Leu89Ser)
c.260T>C (p.Leu87Ser)
11g.128840035A>TCA383246726KCNJ1c.209T>A (p.Leu70Ter)
c.266T>A (p.Leu89Ter)
c.260T>A (p.Leu87Ter)
11g.128840036A=CA2008251609KCNJ1c.208T= (p.Leu70=)
c.265T= (p.Leu89=)
c.259T= (p.Leu87=)
11g.128840036A>CCA383246730KCNJ1c.208T>G (p.Leu70Val)
c.265T>G (p.Leu89Val)
c.259T>G (p.Leu87Val)
11g.128840036A>GCA477703219KCNJ1c.208T>C (p.Leu70=)
c.265T>C (p.Leu89=)
c.259T>C (p.Leu87=)
dbSNP gnomAD v4
11g.128840036A>TCA383246731KCNJ1c.208T>A (p.Leu70Met)
c.265T>A (p.Leu89Met)
c.259T>A (p.Leu87Met)
11g.128840037G>ACA477703220KCNJ1c.207C>T (p.Phe69=)
c.264C>T (p.Phe88=)
c.258C>T (p.Phe86=)
11g.128840037G>CCA383246734KCNJ1c.207C>G (p.Phe69Leu)
c.264C>G (p.Phe88Leu)
c.258C>G (p.Phe86Leu)
11g.128840037G>TCA383246736KCNJ1c.207C>A (p.Phe69Leu)
c.264C>A (p.Phe88Leu)
c.258C>A (p.Phe86Leu)
11g.128840038A=CA2008251615KCNJ1c.206T= (p.Phe69=)
c.263T= (p.Phe88=)
c.257T= (p.Phe86=)
11g.128840038A>CCA230629018KCNJ1c.206T>G (p.Phe69Cys)
c.263T>G (p.Phe88Cys)
c.257T>G (p.Phe86Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128840038A>GCA383246739KCNJ1c.206T>C (p.Phe69Ser)
c.263T>C (p.Phe88Ser)
c.257T>C (p.Phe86Ser)
11g.128840038A>TCA383246741KCNJ1c.206T>A (p.Phe69Tyr)
c.263T>A (p.Phe88Tyr)
c.257T>A (p.Phe86Tyr)
11g.128840039A>CCA383246745KCNJ1c.205T>G (p.Phe69Val)
c.262T>G (p.Phe88Val)
c.256T>G (p.Phe86Val)
11g.128840039A>GCA383246747KCNJ1c.205T>C (p.Phe69Leu)
c.262T>C (p.Phe88Leu)
c.256T>C (p.Phe86Leu)
11g.128840039A>TCA383246749KCNJ1c.205T>A (p.Phe69Ile)
c.262T>A (p.Phe88Ile)
c.256T>A (p.Phe86Ile)
11g.128840040G>ACA477703225KCNJ1c.204C>T (p.Ala68=)
c.261C>T (p.Ala87=)
c.255C>T (p.Ala85=)
ClinVar
11g.128840040G>CCA477703227KCNJ1c.204C>G (p.Ala68=)
c.261C>G (p.Ala87=)
c.255C>G (p.Ala85=)
11g.128840040G>TCA477703226KCNJ1c.204C>A (p.Ala68=)
c.261C>A (p.Ala87=)
c.255C>A (p.Ala85=)
11g.128840041G>ACA383246751KCNJ1c.203C>T (p.Ala68Val)
c.260C>T (p.Ala87Val)
c.254C>T (p.Ala85Val)
dbSNP gnomAD v4
11g.128840041G>CCA383246752KCNJ1c.203C>G (p.Ala68Gly)
c.260C>G (p.Ala87Gly)
c.254C>G (p.Ala85Gly)
11g.128840041G=CA2008251620KCNJ1c.203C= (p.Ala68=)
c.260C= (p.Ala87=)
c.254C= (p.Ala85=)
11g.128840041G>TCA383246754KCNJ1c.203C>A (p.Ala68Asp)
c.260C>A (p.Ala87Asp)
c.254C>A (p.Ala85Asp)
dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched