Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128912022T>ACA383249979KCNJ5c.749T>A (p.Ile250Asn)
11g.128912022T>CCA383249982KCNJ5c.749T>C (p.Ile250Thr)
11g.128912022T>GCA383249980KCNJ5c.749T>G (p.Ile250Ser)
11g.128912023C>ACA477704032KCNJ5c.750C>A (p.Ile250=)
11g.128912023C=CA2008293115KCNJ5c.750C= (p.Ile250=)
11g.128912023C>GCA383249983KCNJ5c.750C>G (p.Ile250Met)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128912023C>TCA477704033KCNJ5c.750C>T (p.Ile250=)
ClinVar dbSNP gnomAD v4
11g.128912024C>ACA383249987KCNJ5c.751C>A (p.Pro251Thr)
11g.128912024C=CA2008293118KCNJ5c.751C= (p.Pro251=)
11g.128912024C>GCA383249990KCNJ5c.751C>G (p.Pro251Ala)
11g.128912024C>TCA383249993KCNJ5c.751C>T (p.Pro251Ser)
ClinVar dbSNP COSMIC
11g.128912025C>ACA383249996KCNJ5c.752C>A (p.Pro251His)
11g.128912025C>GCA383249999KCNJ5c.752C>G (p.Pro251Arg)
11g.128912025C>TCA383250002KCNJ5c.752C>T (p.Pro251Leu)
gnomAD v4
11g.128912026C>ACA477704034KCNJ5c.753C>A (p.Pro251=)
11g.128912026C=CA2008293123KCNJ5c.753C= (p.Pro251=)
11g.128912026C>GCA477704035KCNJ5c.753C>G (p.Pro251=)
11g.128912026C>TCA477704036KCNJ5c.753C>T (p.Pro251=)
dbSNP
11g.128912027C>ACA383250006KCNJ5c.754C>A (p.Leu252Met)
11g.128912027C=CA2008293127KCNJ5c.754C= (p.Leu252=)
11g.128912027C>GCA383250007KCNJ5c.754C>G (p.Leu252Val)
11g.128912027C>TCA477704039KCNJ5c.754C>T (p.Leu252=)
dbSNP gnomAD v2 gnomAD v4
11g.128912028T>ACA383250012KCNJ5c.755T>A (p.Leu252Gln)
11g.128912028T>CCA383250010KCNJ5c.755T>C (p.Leu252Pro)
gnomAD v4
11g.128912028T>GCA383250008KCNJ5c.755T>G (p.Leu252Arg)
11g.128912029G>ACA477704040KCNJ5c.756G>A (p.Leu252=)
11g.128912029G>CCA477704041KCNJ5c.756G>C (p.Leu252=)
gnomAD v4
11g.128912029G>TCA477704042KCNJ5c.756G>T (p.Leu252=)
dbSNP
11g.128912030A>CCA383250017KCNJ5c.757A>C (p.Asn253His)
11g.128912030A>GCA383250019KCNJ5c.757A>G (p.Asn253Asp)
11g.128912030A>TCA383250020KCNJ5c.757A>T (p.Asn253Tyr)
11g.128912031A>CCA383250021KCNJ5c.758A>C (p.Asn253Thr)
11g.128912031A>GCA383250022KCNJ5c.758A>G (p.Asn253Ser)
11g.128912031A>TCA383250023KCNJ5c.758A>T (p.Asn253Ile)
11g.128912032C>ACA6357931KCNJ5c.759C>A (p.Asn253Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128912032C=CA2008293130KCNJ5c.759C= (p.Asn253=)
11g.128912032C>GCA383250024KCNJ5c.759C>G (p.Asn253Lys)
11g.128912032C>TCA230640558KCNJ5c.759C>T (p.Asn253=)
dbSNP gnomAD v2 gnomAD v4
11g.128912033C>ACA383250025KCNJ5c.760C>A (p.Gln254Lys)
11g.128912033C>GCA383250026KCNJ5c.760C>G (p.Gln254Glu)
gnomAD v4
11g.128912033C>TCA383250027KCNJ5c.760C>T (p.Gln254Ter)
11g.128912034A>CCA383250030KCNJ5c.761A>C (p.Gln254Pro)
11g.128912034A>GCA383250032KCNJ5c.761A>G (p.Gln254Arg)
11g.128912034A>TCA383250028KCNJ5c.761A>T (p.Gln254Leu)
11g.128912035G>ACA477704049KCNJ5c.762G>A (p.Gln254=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128912035G>CCA383250033KCNJ5c.762G>C (p.Gln254His)
11g.128912035G=CA2008293133KCNJ5c.762G= (p.Gln254=)
11g.128912035G>TCA383250034KCNJ5c.762G>T (p.Gln254His)
11g.128912036A>CCA383250035KCNJ5c.763A>C (p.Thr255Pro)
11g.128912036A>GCA383250037KCNJ5c.763A>G (p.Thr255Ala)
11g.128912036A>TCA383250038KCNJ5c.763A>T (p.Thr255Ser)
11g.128912037delCA2575025399KCNJ5c.764del (p.Thr255LysfsTer20)
gnomAD v4
11g.128912037C>ACA383250039KCNJ5c.764C>A (p.Thr255Lys)
11g.128912037C=CA2008293138KCNJ5c.764C= (p.Thr255=)
11g.128912037C>GCA383250040KCNJ5c.764C>G (p.Thr255Arg)
gnomAD v4
11g.128912037C>TCA6357932KCNJ5c.764C>T (p.Thr255Ile)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128912038A>CCA477704054KCNJ5c.765A>C (p.Thr255=)
11g.128912038A>GCA477704055KCNJ5c.765A>G (p.Thr255=)
11g.128912038A>TCA477704053KCNJ5c.765A>T (p.Thr255=)
11g.128912039G>ACA383250042KCNJ5c.766G>A (p.Asp256Asn)
ClinVar dbSNP
11g.128912039G>CCA383250045KCNJ5c.766G>C (p.Asp256His)
11g.128912039G>TCA383250048KCNJ5c.766G>T (p.Asp256Tyr)
11g.128912040A>CCA383250052KCNJ5c.767A>C (p.Asp256Ala)
11g.128912040A>GCA383250053KCNJ5c.767A>G (p.Asp256Gly)
11g.128912040A>TCA383250050KCNJ5c.767A>T (p.Asp256Val)
11g.128912041C>ACA383250058KCNJ5c.768C>A (p.Asp256Glu)
11g.128912041C=CA2008293139KCNJ5c.768C= (p.Asp256=)
11g.128912041C>GCA383250063KCNJ5c.768C>G (p.Asp256Glu)
11g.128912041C>TCA6357933KCNJ5c.768C>T (p.Asp256=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128912042A>CCA383250068KCNJ5c.769A>C (p.Ile257Leu)
11g.128912042A>GCA383250070KCNJ5c.769A>G (p.Ile257Val)
11g.128912042A>TCA383250073KCNJ5c.769A>T (p.Ile257Phe)
11g.128912043T>ACA383250075KCNJ5c.770T>A (p.Ile257Asn)
gnomAD v4
11g.128912043T>CCA383250079KCNJ5c.770T>C (p.Ile257Thr)
11g.128912043T>GCA383250076KCNJ5c.770T>G (p.Ile257Ser)
11g.128912044C>ACA477704059KCNJ5c.771C>A (p.Ile257=)
11g.128912044C=CA2008293140KCNJ5c.771C= (p.Ile257=)
11g.128912044C>GCA383250083KCNJ5c.771C>G (p.Ile257Met)
11g.128912044C>TCA6357934KCNJ5c.771C>T (p.Ile257=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912045A=CA2008293144KCNJ5c.772A= (p.Asn258=)
11g.128912045A>CCA383250091KCNJ5c.772A>C (p.Asn258His)
11g.128912045A>GCA383250092KCNJ5c.772A>G (p.Asn258Asp)
dbSNP
11g.128912045A>TCA383250095KCNJ5c.772A>T (p.Asn258Tyr)
11g.128912046A>CCA383250101KCNJ5c.773A>C (p.Asn258Thr)
11g.128912046A>GCA383250103KCNJ5c.773A>G (p.Asn258Ser)
gnomAD v4
11g.128912046A>TCA383250099KCNJ5c.773A>T (p.Asn258Ile)
11g.128912047C>ACA383250110KCNJ5c.774C>A (p.Asn258Lys)
11g.128912047C=CA2008293148KCNJ5c.774C= (p.Asn258=)
11g.128912047C>GCA383250106KCNJ5c.774C>G (p.Asn258Lys)
11g.128912047C>TCA230640564KCNJ5c.774C>T (p.Asn258=)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.128912048G>ACA6357935KCNJ5c.775G>A (p.Val259Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912048G>CCA383250117KCNJ5c.775G>C (p.Val259Leu)
11g.128912048G=CA2008293149KCNJ5c.775G= (p.Val259=)
11g.128912048G>TCA383250120KCNJ5c.775G>T (p.Val259Leu)
11g.128912049T>ACA383250128KCNJ5c.776T>A (p.Val259Glu)
11g.128912049T>CCA383250124KCNJ5c.776T>C (p.Val259Ala)
11g.128912049T>GCA383250122KCNJ5c.776T>G (p.Val259Gly)
11g.128912050G>ACA477704063KCNJ5c.777G>A (p.Val259=)
11g.128912050G>CCA477704066KCNJ5c.777G>C (p.Val259=)
11g.128912050G>TCA477704067KCNJ5c.777G>T (p.Val259=)
11g.128912051G>ACA383250132KCNJ5c.778G>A (p.Gly260Ser)
11g.128912051G>CCA383250133KCNJ5c.778G>C (p.Gly260Arg)
11g.128912051G>TCA383250134KCNJ5c.778G>T (p.Gly260Cys)
11g.128912053_128912063delCA2616775473KCNJ5c.780_790del (p.Phe261ArgfsTer15)
gnomAD v4
11g.128912052G>ACA6357936KCNJ5c.779G>A (p.Gly260Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128912052G>CCA383250136KCNJ5c.779G>C (p.Gly260Ala)
11g.128912052G=CA2008293150KCNJ5c.779G= (p.Gly260=)
11g.128912052G>TCA383250139KCNJ5c.779G>T (p.Gly260Val)
11g.128912053C>ACA477704069KCNJ5c.780C>A (p.Gly260=)
11g.128912053C>GCA477704070KCNJ5c.780C>G (p.Gly260=)
11g.128912053C>TCA477704071KCNJ5c.780C>T (p.Gly260=)
gnomAD v4
11g.128912054T>ACA383250143KCNJ5c.781T>A (p.Phe261Ile)
11g.128912054T>CCA383250149KCNJ5c.781T>C (p.Phe261Leu)
11g.128912054T>GCA383250144KCNJ5c.781T>G (p.Phe261Val)
11g.128912055T>ACA383250153KCNJ5c.782T>A (p.Phe261Tyr)
11g.128912055T>CCA383250155KCNJ5c.782T>C (p.Phe261Ser)
11g.128912055T>GCA383250163KCNJ5c.782T>G (p.Phe261Cys)
11g.128912056T>ACA383250167KCNJ5c.783T>A (p.Phe261Leu)
11g.128912056T>CCA477704078KCNJ5c.783T>C (p.Phe261=)
11g.128912056T>GCA383250169KCNJ5c.783T>G (p.Phe261Leu)
gnomAD v4
11g.128912057G>ACA383250177KCNJ5c.784G>A (p.Asp262Asn)
gnomAD v4
11g.128912057G>CCA383250179KCNJ5c.784G>C (p.Asp262His)
11g.128912057G>TCA383250182KCNJ5c.784G>T (p.Asp262Tyr)
11g.128912058delCA2616775474KCNJ5c.785del (p.Asp262AlafsTer13)
gnomAD v4
11g.128912058A>CCA383250204KCNJ5c.785A>C (p.Asp262Ala)
11g.128912058A>GCA383250206KCNJ5c.785A>G (p.Asp262Gly)
gnomAD v4
11g.128912058A>TCA383250209KCNJ5c.785A>T (p.Asp262Val)
11g.128912059C>ACA383250214KCNJ5c.786C>A (p.Asp262Glu)
11g.128912059C>GCA383250212KCNJ5c.786C>G (p.Asp262Glu)
11g.128912059C>TCA477704081KCNJ5c.786C>T (p.Asp262=)
11g.128912060A>CCA383250215KCNJ5c.787A>C (p.Thr263Pro)
11g.128912060A>GCA383250217KCNJ5c.787A>G (p.Thr263Ala)
11g.128912060A>TCA383250218KCNJ5c.787A>T (p.Thr263Ser)
11g.128912061C>ACA383250221KCNJ5c.788C>A (p.Thr263Lys)
11g.128912061C=CA2008293155KCNJ5c.788C= (p.Thr263=)
11g.128912061C>GCA383250223KCNJ5c.788C>G (p.Thr263Arg)
11g.128912061C>TCA6357937KCNJ5c.788C>T (p.Thr263Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128912062G>ACA6357938KCNJ5c.789G>A (p.Thr263=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128912062G>CCA477704084KCNJ5c.789G>C (p.Thr263=)
gnomAD v4
11g.128912062G=CA2008293169KCNJ5c.789G= (p.Thr263=)
11g.128912062G>TCA6357939KCNJ5c.789G>T (p.Thr263=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912063G>ACA383250231KCNJ5c.790G>A (p.Gly264Ser)
COSMIC
11g.128912063G>CCA383250236KCNJ5c.790G>C (p.Gly264Arg)
11g.128912063G>TCA383250233KCNJ5c.790G>T (p.Gly264Cys)
11g.128912064G>ACA383250239KCNJ5c.791G>A (p.Gly264Asp)
11g.128912064G>CCA383250244KCNJ5c.791G>C (p.Gly264Ala)
11g.128912064G>TCA383250246KCNJ5c.791G>T (p.Gly264Val)
11g.128912065C>ACA477704088KCNJ5c.792C>A (p.Gly264=)
dbSNP
11g.128912065C=CA2008293172KCNJ5c.792C= (p.Gly264=)
11g.128912065C>GCA477704090KCNJ5c.792C>G (p.Gly264=)
11g.128912065C>TCA6357940KCNJ5c.792C>T (p.Gly264=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912066G>ACA6357941KCNJ5c.793G>A (p.Asp265Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128912066G>CCA383250270KCNJ5c.793G>C (p.Asp265His)
11g.128912066G=CA2008293175KCNJ5c.793G= (p.Asp265=)
11g.128912066G>TCA383250267KCNJ5c.793G>T (p.Asp265Tyr)
11g.128912067A>CCA383250277KCNJ5c.794A>C (p.Asp265Ala)
11g.128912067A>GCA383250284KCNJ5c.794A>G (p.Asp265Gly)
11g.128912067A>TCA383250286KCNJ5c.794A>T (p.Asp265Val)
11g.128912068C>ACA383250289KCNJ5c.795C>A (p.Asp265Glu)
11g.128912068C=CA2008293179KCNJ5c.795C= (p.Asp265=)
11g.128912068C>GCA383250293KCNJ5c.795C>G (p.Asp265Glu)
11g.128912068C>TCA6357942KCNJ5c.795C>T (p.Asp265=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128912069G>ACA383250296KCNJ5c.796G>A (p.Asp266Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128912069G>CCA383250299KCNJ5c.796G>C (p.Asp266His)
11g.128912069G=CA2008293183KCNJ5c.796G= (p.Asp266=)
11g.128912069G>TCA383250303KCNJ5c.796G>T (p.Asp266Tyr)
11g.128912070A=CA2008293186KCNJ5c.797A= (p.Asp266=)
11g.128912070A>CCA383250305KCNJ5c.797A>C (p.Asp266Ala)
dbSNP
11g.128912070A>GCA383250313KCNJ5c.797A>G (p.Asp266Gly)
11g.128912070A>TCA383250315KCNJ5c.797A>T (p.Asp266Val)
11g.128912071C>ACA383250325KCNJ5c.798C>A (p.Asp266Glu)
gnomAD v4 COSMIC
11g.128912071C=CA2008293209KCNJ5c.798C= (p.Asp266=)
11g.128912071C>GCA383250332KCNJ5c.798C>G (p.Asp266Glu)
11g.128912071C>TCA6357943KCNJ5c.798C>T (p.Asp266=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128912072_128912073insCCCCCCCCA230640578KCNJ5c.799_800insCCCCCCC (p.Arg267ProfsTer15)
dbSNP
11g.128912072C>ACA383250336KCNJ5c.799C>A (p.Arg267Ser)
11g.128912072C=CA2008293214KCNJ5c.799C= (p.Arg267=)
11g.128912072C>GCA383250335KCNJ5c.799C>G (p.Arg267Gly)
11g.128912072C>TCA6357944KCNJ5c.799C>T (p.Arg267Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912073G>ACA10630413KCNJ5c.800G>A (p.Arg267His)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
11g.128912073G>CCA383250344KCNJ5c.800G>C (p.Arg267Pro)
11g.128912073G=CA2008293224KCNJ5c.800G= (p.Arg267=)
11g.128912073G>TCA383250341KCNJ5c.800G>T (p.Arg267Leu)
gnomAD v4 COSMIC
11g.128912074C>ACA477704100KCNJ5c.801C>A (p.Arg267=)
11g.128912074C>GCA477704101KCNJ5c.801C>G (p.Arg267=)
11g.128912074C>TCA477704102KCNJ5c.801C>T (p.Arg267=)
11g.128912074_128912075delinsTTCA645595708KCNJ5c.801_802delinsTT (p.Leu268Phe)
COSMIC
11g.128912075C>ACA383250350KCNJ5c.802C>A (p.Leu268Ile)
dbSNP gnomAD v2 gnomAD v4
11g.128912075C=CA2008293227KCNJ5c.802C= (p.Leu268=)
11g.128912075C>GCA383250354KCNJ5c.802C>G (p.Leu268Val)
11g.128912075C>TCA383250355KCNJ5c.802C>T (p.Leu268Phe)
11g.128912076T>ACA383250356KCNJ5c.803T>A (p.Leu268His)
11g.128912076T>CCA383250358KCNJ5c.803T>C (p.Leu268Pro)
gnomAD v4
11g.128912076T>GCA383250359KCNJ5c.803T>G (p.Leu268Arg)
11g.128912077C>ACA477704105KCNJ5c.804C>A (p.Leu268=)
11g.128912077C>GCA477704106KCNJ5c.804C>G (p.Leu268=)
11g.128912077C>TCA477704107KCNJ5c.804C>T (p.Leu268=)
gnomAD v4
11g.128912078T>ACA383250362KCNJ5c.805T>A (p.Phe269Ile)
11g.128912078T>CCA383250363KCNJ5c.805T>C (p.Phe269Leu)
11g.128912078T>GCA383250364KCNJ5c.805T>G (p.Phe269Val)
11g.128912079T>ACA383250365KCNJ5c.806T>A (p.Phe269Tyr)
11g.128912079T>CCA383250367KCNJ5c.806T>C (p.Phe269Ser)
11g.128912079T>GCA383250368KCNJ5c.806T>G (p.Phe269Cys)
11g.128912080C>ACA383250371KCNJ5c.807C>A (p.Phe269Leu)
11g.128912080C>GCA383250373KCNJ5c.807C>G (p.Phe269Leu)
11g.128912080C>TCA477704108KCNJ5c.807C>T (p.Phe269=)
11g.128912081C>ACA383250377KCNJ5c.808C>A (p.Leu270Ile)
11g.128912081C>GCA383250381KCNJ5c.808C>G (p.Leu270Val)
11g.128912081C>TCA383250400KCNJ5c.808C>T (p.Leu270Phe)
gnomAD v4
11g.128912082T>ACA383250405KCNJ5c.809T>A (p.Leu270His)
11g.128912082T>CCA383250410KCNJ5c.809T>C (p.Leu270Pro)
11g.128912082T>GCA383250411KCNJ5c.809T>G (p.Leu270Arg)
11g.128912083delCA2616775493KCNJ5c.810del (p.Val271CysfsTer4)
gnomAD v4
11g.128912082_128912083insGCA2838819383KCNJ5c.809_810insG (p.Val271CysfsTer9)
11g.128912083T>ACA477704109KCNJ5c.810T>A (p.Leu270=)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128912083T>CCA477704110KCNJ5c.810T>C (p.Leu270=)
ClinVar dbSNP
11g.128912083T>GCA291752KCNJ5c.810T>G (p.Leu270=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912083T=CA2008293236KCNJ5c.810T= (p.Leu270=)
11g.128912083_128912084delinsGACA915947860KCNJ5c.810_811delinsGA (p.Val271Met)
ClinVar dbSNP
11g.128912083_128912084delinsTGCA2008293244KCNJ5c.810_811delinsTG (p.Leu270=)
11g.128912084G>ACA383250437KCNJ5c.811G>A (p.Val271Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128912084G>CCA383250440KCNJ5c.811G>C (p.Val271Leu)
dbSNP
11g.128912084G=CA2008293250KCNJ5c.811G= (p.Val271=)
11g.128912084G>TCA383250443KCNJ5c.811G>T (p.Val271Leu)
gnomAD v4
11g.128912085T>ACA383250458KCNJ5c.812T>A (p.Val271Glu)
11g.128912085T>CCA383250461KCNJ5c.812T>C (p.Val271Ala)
11g.128912085T>GCA383250454KCNJ5c.812T>G (p.Val271Gly)
11g.128912086G>ACA477704115KCNJ5c.813G>A (p.Val271=)
gnomAD v4
11g.128912086G>CCA477704117KCNJ5c.813G>C (p.Val271=)
11g.128912086G>TCA477704118KCNJ5c.813G>T (p.Val271=)
ClinVar
11g.128912087T>ACA383250466KCNJ5c.814T>A (p.Ser272Thr)
gnomAD v4
11g.128912087T>CCA383250471KCNJ5c.814T>C (p.Ser272Pro)
11g.128912087T>GCA383250474KCNJ5c.814T>G (p.Ser272Ala)
11g.128912088C>ACA383250481KCNJ5c.815C>A (p.Ser272Tyr)
11g.128912088C>GCA383250486KCNJ5c.815C>G (p.Ser272Cys)
11g.128912088C>TCA383250494KCNJ5c.815C>T (p.Ser272Phe)
11g.128912091_128912093delCA2575025400KCNJ5c.818_820del (p.Pro273del)
11g.128912089T>ACA477704121KCNJ5c.816T>A (p.Ser272=)
11g.128912089T>CCA477704122KCNJ5c.816T>C (p.Ser272=)
11g.128912089T>GCA477704123KCNJ5c.816T>G (p.Ser272=)
11g.128912090C>ACA383250498KCNJ5c.817C>A (p.Pro273Thr)
11g.128912090C>GCA383250501KCNJ5c.817C>G (p.Pro273Ala)
11g.128912090C>TCA383250507KCNJ5c.817C>T (p.Pro273Ser)
gnomAD v4
11g.128912091C>ACA383250512KCNJ5c.818C>A (p.Pro273His)
11g.128912091C>GCA383250513KCNJ5c.818C>G (p.Pro273Arg)
11g.128912091C>TCA383250514KCNJ5c.818C>T (p.Pro273Leu)
11g.128912092T>ACA477704126KCNJ5c.819T>A (p.Pro273=)
11g.128912092T>CCA477704128KCNJ5c.819T>C (p.Pro273=)
11g.128912092T>GCA477704130KCNJ5c.819T>G (p.Pro273=)
11g.128912093C>ACA383250518KCNJ5c.820C>A (p.Leu274Met)
11g.128912093C>GCA383250515KCNJ5c.820C>G (p.Leu274Val)
11g.128912093C>TCA477704131KCNJ5c.820C>T (p.Leu274=)
11g.128912094T>ACA383250526KCNJ5c.821T>A (p.Leu274Gln)
11g.128912094T>CCA383250533KCNJ5c.821T>C (p.Leu274Pro)
11g.128912094T>GCA383250534KCNJ5c.821T>G (p.Leu274Arg)
11g.128912095G>ACA477704132KCNJ5c.822G>A (p.Leu274=)
11g.128912095G>CCA477704134KCNJ5c.822G>C (p.Leu274=)
11g.128912095G>TCA477704135KCNJ5c.822G>T (p.Leu274=)
11g.128912096A>CCA383250535KCNJ5c.823A>C (p.Ile275Leu)
11g.128912096A>GCA383250536KCNJ5c.823A>G (p.Ile275Val)
11g.128912096A>TCA383250537KCNJ5c.823A>T (p.Ile275Phe)
11g.128912097T>ACA383250539KCNJ5c.824T>A (p.Ile275Asn)
11g.128912097T>CCA383250541KCNJ5c.824T>C (p.Ile275Thr)
11g.128912097T>GCA383250543KCNJ5c.824T>G (p.Ile275Ser)
11g.128912098C>ACA348016KCNJ5c.825C>A (p.Ile275=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912098C=CA2008293252KCNJ5c.825C= (p.Ile275=)
11g.128912098C>GCA383250545KCNJ5c.825C>G (p.Ile275Met)
11g.128912098C>TCA477704139KCNJ5c.825C>T (p.Ile275=)
11g.128912099A>CCA383250549KCNJ5c.826A>C (p.Ile276Leu)
11g.128912099A>GCA383250555KCNJ5c.826A>G (p.Ile276Val)
11g.128912099A>TCA383250559KCNJ5c.826A>T (p.Ile276Phe)
11g.128912100T>ACA383250571KCNJ5c.827T>A (p.Ile276Asn)
11g.128912100T>CCA383250573KCNJ5c.827T>C (p.Ile276Thr)
dbSNP gnomAD v2 gnomAD v4
11g.128912100T>GCA383250566KCNJ5c.827T>G (p.Ile276Ser)
11g.128912100T=CA2008293291KCNJ5c.827T= (p.Ile276=)
11g.128912101C>ACA477704145KCNJ5c.828C>A (p.Ile276=)
ClinVar dbSNP gnomAD v4
11g.128912101C=CA2008293293KCNJ5c.828C= (p.Ile276=)
11g.128912101C>GCA383250577KCNJ5c.828C>G (p.Ile276Met)
11g.128912101C>TCA477704146KCNJ5c.828C>T (p.Ile276=)
11g.128912102T>ACA383250581KCNJ5c.829T>A (p.Ser277Thr)
11g.128912102T>CCA383250602KCNJ5c.829T>C (p.Ser277Pro)
dbSNP gnomAD v2 gnomAD v4
11g.128912102T>GCA383250606KCNJ5c.829T>G (p.Ser277Ala)
ClinVar
11g.128912102T=CA2008293296KCNJ5c.829T= (p.Ser277=)
11g.128912103C>ACA383250607KCNJ5c.830C>A (p.Ser277Tyr)
11g.128912103C>GCA383250611KCNJ5c.830C>G (p.Ser277Cys)
11g.128912103C>TCA383250614KCNJ5c.830C>T (p.Ser277Phe)
ClinVar
11g.128912106_128912127delCA2616775536KCNJ5c.833_854del (p.His278LeufsTer21)
gnomAD v4
11g.128912104C>ACA477704149KCNJ5c.831C>A (p.Ser277=)
11g.128912104C>GCA477704153KCNJ5c.831C>G (p.Ser277=)
11g.128912104C>TCA477704151KCNJ5c.831C>T (p.Ser277=)
11g.128912105C>ACA383250622KCNJ5c.832C>A (p.His278Asn)
11g.128912105C>GCA383250628KCNJ5c.832C>G (p.His278Asp)
11g.128912105C>TCA383250632KCNJ5c.832C>T (p.His278Tyr)
11g.128912106A>CCA383251211KCNJ5c.833A>C (p.His278Pro)
11g.128912106A>GCA383251212KCNJ5c.833A>G (p.His278Arg)
gnomAD v4
11g.128912106A>TCA383251213KCNJ5c.833A>T (p.His278Leu)
11g.128912107T>ACA383251215KCNJ5c.834T>A (p.His278Gln)
ClinVar dbSNP gnomAD v4
11g.128912107T>CCA291755KCNJ5c.834T>C (p.His278=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912107T>GCA383251214KCNJ5c.834T>G (p.His278Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128912107T=CA2008293299KCNJ5c.834T= (p.His278=)
11g.128912107_128912108delinsCACA2580083820KCNJ5c.834_835delinsCA (p.Glu279Lys)
ClinVar
11g.128912108G>ACA6357945KCNJ5c.835G>A (p.Glu279Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128912108G>CCA383251216KCNJ5c.835G>C (p.Glu279Gln)
11g.128912108G=CA2008293305KCNJ5c.835G= (p.Glu279=)
11g.128912108G>TCA383251217KCNJ5c.835G>T (p.Glu279Ter)
11g.128912109A>CCA383251218KCNJ5c.836A>C (p.Glu279Ala)
11g.128912109A>GCA383251219KCNJ5c.836A>G (p.Glu279Gly)
11g.128912109A>TCA383251220KCNJ5c.836A>T (p.Glu279Val)
11g.128912110G>ACA6357946KCNJ5c.837G>A (p.Glu279=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912110G>CCA383251221KCNJ5c.837G>C (p.Glu279Asp)
ClinVar dbSNP
11g.128912110G=CA2008293309KCNJ5c.837G= (p.Glu279=)
11g.128912110G>TCA383251222KCNJ5c.837G>T (p.Glu279Asp)
gnomAD v4
11g.128912111A>CCA383251223KCNJ5c.838A>C (p.Ile280Leu)
11g.128912111A>GCA383251224KCNJ5c.838A>G (p.Ile280Val)
11g.128912111A>TCA383251225KCNJ5c.838A>T (p.Ile280Phe)
11g.128912112T>ACA383251227KCNJ5c.839T>A (p.Ile280Asn)
11g.128912112T>CCA383251228KCNJ5c.839T>C (p.Ile280Thr)
11g.128912112T>GCA383251226KCNJ5c.839T>G (p.Ile280Ser)
11g.128912113C>ACA477527433KCNJ5c.840C>A (p.Ile280=)
11g.128912113C>GCA383251229KCNJ5c.840C>G (p.Ile280Met)
gnomAD v4
11g.128912113C>TCA477527432KCNJ5c.840C>T (p.Ile280=)
ClinVar
11g.128912114A>CCA383251230KCNJ5c.841A>C (p.Asn281His)
11g.128912114A>GCA383251231KCNJ5c.841A>G (p.Asn281Asp)
11g.128912114A>TCA383251232KCNJ5c.841A>T (p.Asn281Tyr)
11g.128912115A>CCA383251233KCNJ5c.842A>C (p.Asn281Thr)
11g.128912115A>GCA383251234KCNJ5c.842A>G (p.Asn281Ser)
11g.128912115A>TCA383251235KCNJ5c.842A>T (p.Asn281Ile)
11g.128912116C>ACA383251236KCNJ5c.843C>A (p.Asn281Lys)
11g.128912116C=CA2008293323KCNJ5c.843C= (p.Asn281=)
11g.128912116C>GCA383251237KCNJ5c.843C>G (p.Asn281Lys)
11g.128912116C>TCA6357947KCNJ5c.843C>T (p.Asn281=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128912116_128912117delinsCCCA2008293317KCNJ5c.843_844delinsCC (p.Asn281=)
11g.128912116_128912117delinsTGCA16613481KCNJ5c.843_844delinsTG (p.Gln282Glu)
ClinVar dbSNP
11g.128912117C>ACA230640590KCNJ5c.844C>A (p.Gln282Lys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128912117C=CA2008293329KCNJ5c.844C= (p.Gln282=)
11g.128912117C>GCA291758KCNJ5c.844C>G (p.Gln282Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128912117C>TCA383251238KCNJ5c.844C>T (p.Gln282Ter)
dbSNP gnomAD v4
11g.128912118A>CCA383251241KCNJ5c.845A>C (p.Gln282Pro)
11g.128912118A>GCA383251240KCNJ5c.845A>G (p.Gln282Arg)
11g.128912118A>TCA383251239KCNJ5c.845A>T (p.Gln282Leu)
11g.128912119G>ACA477527435KCNJ5c.846G>A (p.Gln282=)
11g.128912119G>CCA383251242KCNJ5c.846G>C (p.Gln282His)
11g.128912119G>TCA383251243KCNJ5c.846G>T (p.Gln282His)
11g.128912120A>CCA383251244KCNJ5c.847A>C (p.Lys283Gln)
11g.128912120A>GCA383251245KCNJ5c.847A>G (p.Lys283Glu)
11g.128912120A>TCA383251247KCNJ5c.847A>T (p.Lys283Ter)
11g.128912121A>CCA383251249KCNJ5c.848A>C (p.Lys283Thr)
11g.128912121A>GCA383251251KCNJ5c.848A>G (p.Lys283Arg)
11g.128912121A>TCA383251253KCNJ5c.848A>T (p.Lys283Met)
11g.128912122G>ACA477527436KCNJ5c.849G>A (p.Lys283=)
ClinVar gnomAD v4
11g.128912122G>CCA383251256KCNJ5c.849G>C (p.Lys283Asn)
11g.128912122G=CA2008293340KCNJ5c.849G= (p.Lys283=)
11g.128912122G>TCA383251257KCNJ5c.849G>T (p.Lys283Asn)
dbSNP

Number of alleles fetched