Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387558A>CCA473515495KCNJ11c.273T>G (p.Ala91=)
c.534T>G (p.Ala178=)
n.692T>G
11g.17387558A>GCA473515497KCNJ11c.273T>C (p.Ala91=)
c.534T>C (p.Ala178=)
n.692T>C
11g.17387558A>TCA473515496KCNJ11c.273T>A (p.Ala91=)
c.534T>A (p.Ala178=)
n.692T>A
11g.17387559G>ACA379772933KCNJ11c.272C>T (p.Ala91Val)
c.533C>T (p.Ala178Val)
n.691C>T
11g.17387559G>CCA379772935KCNJ11c.272C>G (p.Ala91Gly)
c.533C>G (p.Ala178Gly)
n.691C>G
11g.17387559G>TCA379772940KCNJ11c.272C>A (p.Ala91Asp)
c.533C>A (p.Ala178Asp)
n.691C>A
gnomAD v4
11g.17387559_17387560delinsGCCA1955119309KCNJ11c.271_272delinsGC (p.Ala91=)
c.532_533delinsGC (p.Ala178=)
n.690_691delinsGC
11g.17387560C>ACA379772947KCNJ11c.271G>T (p.Ala91Ser)
c.532G>T (p.Ala178Ser)
n.690G>T
11g.17387560C=CA1955119310KCNJ11c.271G= (p.Ala91=)
c.532G= (p.Ala178=)
n.690G=
11g.17387560C>GCA379772956KCNJ11c.271G>C (p.Ala91Pro)
c.532G>C (p.Ala178Pro)
n.690G>C
11g.17387560C>TCA5902285KCNJ11c.271G>A (p.Ala91Thr)
c.532G>A (p.Ala178Thr)
n.690G>A
dbSNP ExAC gnomAD v2 COSMIC
11g.17387562delCA658656127KCNJ11c.271del (p.Ala91LeufsTer11)
c.532del (p.Ala178LeufsTer11)
n.690del
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17387561C>ACA379772962KCNJ11c.270G>T (p.Arg90Ser)
c.531G>T (p.Arg177Ser)
n.689G>T
11g.17387561C>GCA379772966KCNJ11c.270G>C (p.Arg90Ser)
c.531G>C (p.Arg177Ser)
n.689G>C
11g.17387561C>TCA473515498KCNJ11c.270G>A (p.Arg90=)
c.531G>A (p.Arg177=)
n.689G>A
11g.17387562C>ACA379772970KCNJ11c.269G>T (p.Arg90Met)
c.530G>T (p.Arg177Met)
n.688G>T
11g.17387562C>GCA379772976KCNJ11c.269G>C (p.Arg90Thr)
c.530G>C (p.Arg177Thr)
n.688G>C
11g.17387562C>TCA379772978KCNJ11c.269G>A (p.Arg90Lys)
c.530G>A (p.Arg177Lys)
n.688G>A
11g.17387563T>ACA379772983KCNJ11c.268A>T (p.Arg90Trp)
c.529A>T (p.Arg177Trp)
n.687A>T
11g.17387563T>CCA379772987KCNJ11c.268A>G (p.Arg90Gly)
c.529A>G (p.Arg177Gly)
n.687A>G
11g.17387563T>GCA473515499KCNJ11c.268A>C (p.Arg90=)
c.529A>C (p.Arg177=)
n.687A>C
ClinVar
11g.17387564G>ACA473515500KCNJ11c.267C>T (p.Arg89=)
c.528C>T (p.Arg176=)
n.686C>T
11g.17387564G>CCA473515501KCNJ11c.267C>G (p.Arg89=)
c.528C>G (p.Arg176=)
n.686C>G
11g.17387564G=CA1955119311KCNJ11c.267C= (p.Arg89=)
c.528C= (p.Arg176=)
n.686C=
11g.17387564G>TCA473515502KCNJ11c.267C>A (p.Arg89=)
c.528C>A (p.Arg176=)
n.686C>A
dbSNP gnomAD v2 gnomAD v4
11g.17387565C>ACA379772992KCNJ11c.266G>T (p.Arg89Leu)
c.527G>T (p.Arg176Leu)
n.685G>T
dbSNP gnomAD v2 gnomAD v4
11g.17387565C=CA1955119312KCNJ11c.266G= (p.Arg89=)
c.527G= (p.Arg176=)
n.685G=
11g.17387565C>GCA379772999KCNJ11c.266G>C (p.Arg89Pro)
c.527G>C (p.Arg176Pro)
n.685G>C
11g.17387565C>TCA379773008KCNJ11c.266G>A (p.Arg89His)
c.527G>A (p.Arg176His)
n.685G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387566G>ACA205789KCNJ11c.265C>T (p.Arg89Cys)
c.526C>T (p.Arg176Cys)
n.684C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387566G>CCA379773015KCNJ11c.265C>G (p.Arg89Gly)
c.526C>G (p.Arg176Gly)
n.684C>G
ClinVar
11g.17387566G=CA1955119313KCNJ11c.265C= (p.Arg89=)
c.526C= (p.Arg176=)
n.684C=
11g.17387566G>TCA379773013KCNJ11c.265C>A (p.Arg89Ser)
c.526C>A (p.Arg176Ser)
n.684C>A
11g.17387567G>ACA218399854KCNJ11c.264C>T (p.His88=)
c.525C>T (p.His175=)
n.683C>T
ClinVar dbSNP
11g.17387567G>CCA379773029KCNJ11c.264C>G (p.His88Gln)
c.525C>G (p.His175Gln)
n.683C>G
11g.17387567G=CA1955119314KCNJ11c.264C= (p.His88=)
c.525C= (p.His175=)
n.683C=
11g.17387567G>TCA10630460KCNJ11c.264C>A (p.His88Gln)
c.525C>A (p.His175Gln)
n.683C>A
ClinVar dbSNP gnomAD v4
11g.17387568T>ACA379773037KCNJ11c.263A>T (p.His88Leu)
c.524A>T (p.His175Leu)
n.682A>T
11g.17387568T>CCA379773038KCNJ11c.263A>G (p.His88Arg)
c.524A>G (p.His175Arg)
n.682A>G
dbSNP gnomAD v3 gnomAD v4
11g.17387568T>GCA379773044KCNJ11c.263A>C (p.His88Pro)
c.524A>C (p.His175Pro)
n.682A>C
11g.17387568T=CA1955119315KCNJ11c.263A= (p.His88=)
c.524A= (p.His175=)
n.682A=
11g.17387569G>ACA379773050KCNJ11c.262C>T (p.His88Tyr)
c.523C>T (p.His175Tyr)
n.681C>T
11g.17387569G>CCA379773051KCNJ11c.262C>G (p.His88Asp)
c.523C>G (p.His175Asp)
n.681C>G
11g.17387569G>TCA379773054KCNJ11c.262C>A (p.His88Asn)
c.523C>A (p.His175Asn)
n.681C>A
11g.17387570G>ACA473515503KCNJ11c.261C>T (p.Ala87=)
c.522C>T (p.Ala174=)
n.680C>T
gnomAD v4 COSMIC
11g.17387570G>CCA473515504KCNJ11c.261C>G (p.Ala87=)
c.522C>G (p.Ala174=)
n.680C>G
11g.17387570G>TCA473515505KCNJ11c.261C>A (p.Ala87=)
c.522C>A (p.Ala174=)
n.680C>A
COSMIC
11g.17387571G>ACA379773067KCNJ11c.260C>T (p.Ala87Val)
c.521C>T (p.Ala174Val)
n.679C>T
11g.17387571G>CCA172330KCNJ11c.260C>G (p.Ala87Gly)
c.521C>G (p.Ala174Gly)
n.679C>G
ClinVar dbSNP
11g.17387571G=CA1955119316KCNJ11c.260C= (p.Ala87=)
c.521C= (p.Ala174=)
n.679C=
11g.17387571G>TCA379773062KCNJ11c.260C>A (p.Ala87Asp)
c.521C>A (p.Ala174Asp)
n.679C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17387572C>ACA379773073KCNJ11c.259G>T (p.Ala87Ser)
c.520G>T (p.Ala174Ser)
n.678G>T
11g.17387572C>GCA379773077KCNJ11c.259G>C (p.Ala87Pro)
c.520G>C (p.Ala174Pro)
n.678G>C
11g.17387572C>TCA379773080KCNJ11c.259G>A (p.Ala87Thr)
c.520G>A (p.Ala174Thr)
n.678G>A
11g.17387573T>ACA379773084KCNJ11c.258A>T (p.Gln86His)
c.519A>T (p.Gln173His)
n.677A>T
11g.17387573T>CCA473515506KCNJ11c.258A>G (p.Gln86=)
c.519A>G (p.Gln173=)
n.677A>G
dbSNP
11g.17387573T>GCA379773087KCNJ11c.258A>C (p.Gln86His)
c.519A>C (p.Gln173His)
n.677A>C
11g.17387573T=CA1955119317KCNJ11c.258A= (p.Gln86=)
c.519A= (p.Gln173=)
n.677A=
11g.17387574T>ACA379773098KCNJ11c.257A>T (p.Gln86Leu)
c.518A>T (p.Gln173Leu)
n.676A>T
11g.17387574T>CCA379773092KCNJ11c.257A>G (p.Gln86Arg)
c.518A>G (p.Gln173Arg)
n.676A>G
11g.17387574T>GCA379773095KCNJ11c.257A>C (p.Gln86Pro)
c.518A>C (p.Gln173Pro)
n.676A>C
11g.17387575G>ACA379773103KCNJ11c.256C>T (p.Gln86Ter)
c.517C>T (p.Gln173Ter)
n.675C>T
11g.17387575G>CCA379773106KCNJ11c.256C>G (p.Gln86Glu)
c.517C>G (p.Gln173Glu)
n.675C>G
11g.17387575G>TCA379773110KCNJ11c.256C>A (p.Gln86Lys)
c.517C>A (p.Gln173Lys)
n.675C>A
gnomAD v4
11g.17387576G>ACA473515507KCNJ11c.255C>T (p.Ala85=)
c.516C>T (p.Ala172=)
n.674C>T
11g.17387576G>CCA473515508KCNJ11c.255C>G (p.Ala85=)
c.516C>G (p.Ala172=)
n.674C>G
11g.17387576G>TCA473515509KCNJ11c.255C>A (p.Ala85=)
c.516C>A (p.Ala172=)
n.674C>A
11g.17387577G>ACA379773113KCNJ11c.254C>T (p.Ala85Val)
c.515C>T (p.Ala172Val)
n.673C>T
ClinVar dbSNP
11g.17387577G>CCA379773116KCNJ11c.254C>G (p.Ala85Gly)
c.515C>G (p.Ala172Gly)
n.673C>G
11g.17387577G=CA1955119318KCNJ11c.254C= (p.Ala85=)
c.515C= (p.Ala172=)
n.673C=
11g.17387577G>TCA379773118KCNJ11c.254C>A (p.Ala85Asp)
c.515C>A (p.Ala172Asp)
n.673C>A
dbSNP gnomAD v2 gnomAD v4
11g.17387578C>ACA379773121KCNJ11c.253G>T (p.Ala85Ser)
c.514G>T (p.Ala172Ser)
n.672G>T
gnomAD v4
11g.17387578C>GCA379773123KCNJ11c.253G>C (p.Ala85Pro)
c.514G>C (p.Ala172Pro)
n.672G>C
11g.17387578C>TCA379773126KCNJ11c.253G>A (p.Ala85Thr)
c.514G>A (p.Ala172Thr)
n.672G>A
11g.17387579A>CCA473515510KCNJ11c.252T>G (p.Thr84=)
c.513T>G (p.Thr171=)
n.671T>G
11g.17387579A>GCA473515511KCNJ11c.252T>C (p.Thr84=)
c.513T>C (p.Thr171=)
n.671T>C
gnomAD v4
11g.17387579A>TCA473515512KCNJ11c.252T>A (p.Thr84=)
c.513T>A (p.Thr171=)
n.671T>A
11g.17387580G>ACA379773131KCNJ11c.251C>T (p.Thr84Ile)
c.512C>T (p.Thr171Ile)
n.670C>T
11g.17387580G>CCA379773132KCNJ11c.251C>G (p.Thr84Ser)
c.512C>G (p.Thr171Ser)
n.670C>G
11g.17387580G>TCA379773133KCNJ11c.251C>A (p.Thr84Asn)
c.512C>A (p.Thr171Asn)
n.670C>A
11g.17387581T>ACA379773134KCNJ11c.250A>T (p.Thr84Ser)
c.511A>T (p.Thr171Ser)
n.669A>T
11g.17387581T>CCA379773137KCNJ11c.250A>G (p.Thr84Ala)
c.511A>G (p.Thr171Ala)
n.669A>G
11g.17387581T>GCA379773136KCNJ11c.250A>C (p.Thr84Pro)
c.511A>C (p.Thr171Pro)
n.669A>C
11g.17387582C>ACA379773142KCNJ11c.249G>T (p.Lys83Asn)
c.510G>T (p.Lys170Asn)
n.668G>T
11g.17387582C=CA1955119319KCNJ11c.249G= (p.Lys83=)
c.510G= (p.Lys170=)
n.668G=
11g.17387582C>GCA340807KCNJ11c.249G>C (p.Lys83Asn)
c.510G>C (p.Lys170Asn)
n.668G>C
ClinVar dbSNP
11g.17387582C>TCA473515513KCNJ11c.249G>A (p.Lys83=)
c.510G>A (p.Lys170=)
n.668G>A
11g.17387583T>ACA379773151KCNJ11c.248A>T (p.Lys83Met)
c.509A>T (p.Lys170Met)
n.667A>T
11g.17387583T>CCA340805KCNJ11c.248A>G (p.Lys83Arg)
c.509A>G (p.Lys170Arg)
n.667A>G
ClinVar dbSNP
11g.17387583T>GCA379773156KCNJ11c.248A>C (p.Lys83Thr)
c.509A>C (p.Lys170Thr)
n.667A>C
11g.17387583T=CA1955119320KCNJ11c.248A= (p.Lys83=)
c.509A= (p.Lys170=)
n.667A=
11g.17387584T>ACA379773160KCNJ11c.247A>T (p.Lys83Ter)
c.508A>T (p.Lys170Ter)
n.666A>T
11g.17387584T>CCA379773161KCNJ11c.247A>G (p.Lys83Glu)
c.508A>G (p.Lys170Glu)
n.666A>G
dbSNP gnomAD v2 gnomAD v4
11g.17387584T>GCA379773162KCNJ11c.247A>C (p.Lys83Gln)
c.508A>C (p.Lys170Gln)
n.666A>C
11g.17387584T=CA1955119321KCNJ11c.247A= (p.Lys83=)
c.508A= (p.Lys170=)
n.666A=
11g.17387585C>ACA379773163KCNJ11c.246G>T (p.Met82Ile)
c.507G>T (p.Met169Ile)
n.665G>T
11g.17387585C>GCA379773164KCNJ11c.246G>C (p.Met82Ile)
c.507G>C (p.Met169Ile)
n.665G>C
11g.17387585C>TCA379773165KCNJ11c.246G>A (p.Met82Ile)
c.507G>A (p.Met169Ile)
n.665G>A
11g.17387586A>CCA379773171KCNJ11c.245T>G (p.Met82Arg)
c.506T>G (p.Met169Arg)
n.664T>G
11g.17387586A>GCA379773168KCNJ11c.245T>C (p.Met82Thr)
c.506T>C (p.Met169Thr)
n.664T>C
11g.17387586A>TCA379773167KCNJ11c.245T>A (p.Met82Lys)
c.506T>A (p.Met169Lys)
n.664T>A
11g.17387587T>ACA379773174KCNJ11c.244A>T (p.Met82Leu)
c.505A>T (p.Met169Leu)
n.663A>T
11g.17387587T>CCA379773182KCNJ11c.244A>G (p.Met82Val)
c.505A>G (p.Met169Val)
n.663A>G
gnomAD v4
11g.17387587T>GCA379773183KCNJ11c.244A>C (p.Met82Leu)
c.505A>C (p.Met169Leu)
n.663A>C
11g.17387588G>ACA473515514KCNJ11c.243C>T (p.Phe81=)
c.504C>T (p.Phe168=)
n.662C>T
11g.17387588G>CCA379773184KCNJ11c.243C>G (p.Phe81Leu)
c.504C>G (p.Phe168Leu)
n.662C>G
11g.17387588G>TCA379773185KCNJ11c.243C>A (p.Phe81Leu)
c.504C>A (p.Phe168Leu)
n.662C>A
11g.17387589A>CCA379773190KCNJ11c.242T>G (p.Phe81Cys)
c.503T>G (p.Phe168Cys)
n.661T>G
11g.17387589A>GCA379773192KCNJ11c.242T>C (p.Phe81Ser)
c.503T>C (p.Phe168Ser)
n.661T>C
11g.17387589A>TCA379773194KCNJ11c.242T>A (p.Phe81Tyr)
c.503T>A (p.Phe168Tyr)
n.661T>A
11g.17387590A>CCA379773198KCNJ11c.241T>G (p.Phe81Val)
c.502T>G (p.Phe168Val)
n.660T>G
11g.17387590A>GCA379773200KCNJ11c.241T>C (p.Phe81Leu)
c.502T>C (p.Phe168Leu)
n.660T>C
11g.17387590A>TCA379773202KCNJ11c.241T>A (p.Phe81Ile)
c.502T>A (p.Phe168Ile)
n.660T>A
11g.17387591G>ACA473515515KCNJ11c.240C>T (p.Ile80=)
c.501C>T (p.Ile167=)
n.659C>T
11g.17387591G>CCA379773205KCNJ11c.240C>G (p.Ile80Met)
c.501C>G (p.Ile167Met)
n.659C>G
COSMIC
11g.17387591G>TCA473515516KCNJ11c.240C>A (p.Ile80=)
c.501C>A (p.Ile167=)
n.659C>A
11g.17387592A>CCA379773213KCNJ11c.239T>G (p.Ile80Ser)
c.500T>G (p.Ile167Ser)
n.658T>G
11g.17387592A>GCA379773211KCNJ11c.239T>C (p.Ile80Thr)
c.500T>C (p.Ile167Thr)
n.658T>C
11g.17387592A>TCA379773210KCNJ11c.239T>A (p.Ile80Asn)
c.500T>A (p.Ile167Asn)
n.658T>A
gnomAD v4
11g.17387593T>ACA379773218KCNJ11c.238A>T (p.Ile80Phe)
c.499A>T (p.Ile167Phe)
n.657A>T
11g.17387593T>CCA379773217KCNJ11c.238A>G (p.Ile80Val)
c.499A>G (p.Ile167Val)
n.657A>G
11g.17387593T>GCA119835KCNJ11c.238A>C (p.Ile80Leu)
c.499A>C (p.Ile167Leu)
n.657A>C
ClinVar dbSNP
11g.17387593T=CA1955119322KCNJ11c.238A= (p.Ile80=)
c.499A= (p.Ile167=)
n.657A=
11g.17387594G>ACA473515517KCNJ11c.237C>T (p.Cys79=)
c.498C>T (p.Cys166=)
n.656C>T
11g.17387594G>CCA172328KCNJ11c.237C>G (p.Cys79Trp)
c.498C>G (p.Cys166Trp)
n.656C>G
ClinVar dbSNP
11g.17387594G=CA1955119323KCNJ11c.237C= (p.Cys79=)
c.498C= (p.Cys166=)
n.656C=
11g.17387594G>TCA379773220KCNJ11c.237C>A (p.Cys79Ter)
c.498C>A (p.Cys166Ter)
n.656C>A
ClinVar dbSNP
11g.17387595C>ACA119833KCNJ11c.236G>T (p.Cys79Phe)
c.497G>T (p.Cys166Phe)
n.655G>T
ClinVar dbSNP
11g.17387595C=CA1955119324KCNJ11c.236G= (p.Cys79=)
c.497G= (p.Cys166=)
n.655G=
11g.17387595C>GCA379773227KCNJ11c.236G>C (p.Cys79Ser)
c.497G>C (p.Cys166Ser)
n.655G>C
11g.17387595C>TCA341720KCNJ11c.236G>A (p.Cys79Tyr)
c.497G>A (p.Cys166Tyr)
n.655G>A
ClinVar dbSNP
11g.17387596A>CCA379773233KCNJ11c.235T>G (p.Cys79Gly)
c.496T>G (p.Cys166Gly)
n.654T>G
11g.17387596A>GCA379773235KCNJ11c.235T>C (p.Cys79Arg)
c.496T>C (p.Cys166Arg)
n.654T>C
11g.17387596A>TCA379773238KCNJ11c.235T>A (p.Cys79Ser)
c.496T>A (p.Cys166Ser)
n.654T>A
11g.17387597G>ACA473515518KCNJ11c.234C>T (p.Gly78=)
c.495C>T (p.Gly165=)
n.653C>T
ClinVar dbSNP gnomAD v4
11g.17387597G>CCA473515519KCNJ11c.234C>G (p.Gly78=)
c.495C>G (p.Gly165=)
n.653C>G
11g.17387597G>TCA473515520KCNJ11c.234C>A (p.Gly78=)
c.495C>A (p.Gly165=)
n.653C>A
11g.17387598C>ACA379773241KCNJ11c.233G>T (p.Gly78Val)
c.494G>T (p.Gly165Val)
n.652G>T
11g.17387598C=CA1955119325KCNJ11c.233G= (p.Gly78=)
c.494G= (p.Gly165=)
n.652G=
11g.17387598C>GCA379773242KCNJ11c.233G>C (p.Gly78Ala)
c.494G>C (p.Gly165Ala)
n.652G>C
11g.17387598C>TCA379773244KCNJ11c.233G>A (p.Gly78Asp)
c.494G>A (p.Gly165Asp)
n.652G>A
dbSNP gnomAD v3 gnomAD v4
11g.17387598_17387601dupCA2695201084KCNJ11c.230_233dup (p.Cys79TrpfsTer15)
c.491_494dup (p.Cys166TrpfsTer15)
n.649_652dup
ClinVar
11g.17387599C>ACA379773247KCNJ11c.232G>T (p.Gly78Cys)
c.493G>T (p.Gly165Cys)
n.651G>T
11g.17387599C=CA1955119326KCNJ11c.232G= (p.Gly78=)
c.493G= (p.Gly165=)
n.651G=
11g.17387599C>GCA379773246KCNJ11c.232G>C (p.Gly78Arg)
c.493G>C (p.Gly165Arg)
n.651G>C
11g.17387599C>TCA5902286KCNJ11c.232G>A (p.Gly78Ser)
c.493G>A (p.Gly165Ser)
n.651G>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387600A>CCA473515521KCNJ11c.231T>G (p.Leu77=)
c.492T>G (p.Leu164=)
n.650T>G
11g.17387600A>GCA473515522KCNJ11c.231T>C (p.Leu77=)
c.492T>C (p.Leu164=)
n.650T>C
11g.17387600A>TCA473515523KCNJ11c.231T>A (p.Leu77=)
c.492T>A (p.Leu164=)
n.650T>A
11g.17387601A>CCA379773252KCNJ11c.230T>G (p.Leu77Arg)
c.491T>G (p.Leu164Arg)
n.649T>G
11g.17387601A>GCA379773258KCNJ11c.230T>C (p.Leu77Pro)
c.491T>C (p.Leu164Pro)
n.649T>C
ClinVar
11g.17387601A>TCA379773259KCNJ11c.230T>A (p.Leu77His)
c.491T>A (p.Leu164His)
n.649T>A
11g.17387602G>ACA379773262KCNJ11c.229C>T (p.Leu77Phe)
c.490C>T (p.Leu164Phe)
n.648C>T
ClinVar dbSNP
11g.17387602G>CCA379773264KCNJ11c.229C>G (p.Leu77Val)
c.490C>G (p.Leu164Val)
n.648C>G
11g.17387602G=CA1955119327KCNJ11c.229C= (p.Leu77=)
c.490C= (p.Leu164=)
n.648C=
11g.17387602G>TCA379773266KCNJ11c.229C>A (p.Leu77Ile)
c.490C>A (p.Leu164Ile)
n.648C>A
ClinVar dbSNP
11g.17387603C>ACA379773269KCNJ11c.228G>T (p.Met76Ile)
c.489G>T (p.Met163Ile)
n.647G>T
11g.17387603C>GCA379773278KCNJ11c.228G>C (p.Met76Ile)
c.489G>C (p.Met163Ile)
n.647G>C
11g.17387603C>TCA379773281KCNJ11c.228G>A (p.Met76Ile)
c.489G>A (p.Met163Ile)
n.647G>A
11g.17387604A>CCA379773284KCNJ11c.227T>G (p.Met76Arg)
c.488T>G (p.Met163Arg)
n.646T>G
11g.17387604A>GCA379773287KCNJ11c.227T>C (p.Met76Thr)
c.488T>C (p.Met163Thr)
n.646T>C
ClinVar dbSNP
11g.17387604A>TCA379773289KCNJ11c.227T>A (p.Met76Lys)
c.488T>A (p.Met163Lys)
n.646T>A
11g.17387605T>ACA379773293KCNJ11c.226A>T (p.Met76Leu)
c.487A>T (p.Met163Leu)
n.645A>T
11g.17387605T>CCA379773295KCNJ11c.226A>G (p.Met76Val)
c.487A>G (p.Met163Val)
n.645A>G
11g.17387605T>GCA379773291KCNJ11c.226A>C (p.Met76Leu)
c.487A>C (p.Met163Leu)
n.645A>C
11g.17387606G>ACA473515524KCNJ11c.225C>T (p.Ile75=)
c.486C>T (p.Ile162=)
n.644C>T
11g.17387606G>CCA379773298KCNJ11c.225C>G (p.Ile75Met)
c.486C>G (p.Ile162Met)
n.644C>G
11g.17387606G>TCA473515525KCNJ11c.225C>A (p.Ile75=)
c.486C>A (p.Ile162=)
n.644C>A
11g.17387607A>CCA379773301KCNJ11c.224T>G (p.Ile75Ser)
c.485T>G (p.Ile162Ser)
n.643T>G
11g.17387607A>GCA379773303KCNJ11c.224T>C (p.Ile75Thr)
c.485T>C (p.Ile162Thr)
n.643T>C
11g.17387607A>TCA379773305KCNJ11c.224T>A (p.Ile75Asn)
c.485T>A (p.Ile162Asn)
n.643T>A
11g.17387608T>ACA379773310KCNJ11c.223A>T (p.Ile75Phe)
c.484A>T (p.Ile162Phe)
n.642A>T
11g.17387608T>CCA379773312KCNJ11c.223A>G (p.Ile75Val)
c.484A>G (p.Ile162Val)
n.642A>G
11g.17387608T>GCA379773315KCNJ11c.223A>C (p.Ile75Leu)
c.484A>C (p.Ile162Leu)
n.642A>C
11g.17387609G>ACA473515526KCNJ11c.222C>T (p.Ala74=)
c.483C>T (p.Ala161=)
n.641C>T
11g.17387609G>CCA473515527KCNJ11c.222C>G (p.Ala74=)
c.483C>G (p.Ala161=)
n.641C>G
11g.17387609G>TCA473515528KCNJ11c.222C>A (p.Ala74=)
c.483C>A (p.Ala161=)
n.641C>A
11g.17387610G>ACA379773326KCNJ11c.221C>T (p.Ala74Val)
c.482C>T (p.Ala161Val)
n.640C>T
gnomAD v4
11g.17387610G>CCA379773330KCNJ11c.221C>G (p.Ala74Gly)
c.482C>G (p.Ala161Gly)
n.640C>G
11g.17387610G>TCA379773332KCNJ11c.221C>A (p.Ala74Asp)
c.482C>A (p.Ala161Asp)
n.640C>A
11g.17387611C>ACA379773337KCNJ11c.220G>T (p.Ala74Ser)
c.481G>T (p.Ala161Ser)
n.639G>T
11g.17387611C=CA1955119328KCNJ11c.220G= (p.Ala74=)
c.481G= (p.Ala161=)
n.639G=
11g.17387611C>GCA379773338KCNJ11c.220G>C (p.Ala74Pro)
c.481G>C (p.Ala161Pro)
n.639G>C
11g.17387611C>TCA379773339KCNJ11c.220G>A (p.Ala74Thr)
c.481G>A (p.Ala161Thr)
n.639G>A
ClinVar dbSNP gnomAD v2
11g.17387612G>ACA5902287KCNJ11c.219C>T (p.Asn73=)
c.480C>T (p.Asn160=)
n.638C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387612G>CCA379773344KCNJ11c.219C>G (p.Asn73Lys)
c.480C>G (p.Asn160Lys)
n.638C>G
11g.17387612G=CA1955119329KCNJ11c.219C= (p.Asn73=)
c.480C= (p.Asn160=)
n.638C=
11g.17387612G>TCA379773340KCNJ11c.219C>A (p.Asn73Lys)
c.480C>A (p.Asn160Lys)
n.638C>A
11g.17387613T>ACA379773346KCNJ11c.218A>T (p.Asn73Ile)
c.479A>T (p.Asn160Ile)
n.637A>T
11g.17387613T>CCA379773347KCNJ11c.218A>G (p.Asn73Ser)
c.479A>G (p.Asn160Ser)
n.637A>G
11g.17387613T>GCA379773349KCNJ11c.218A>C (p.Asn73Thr)
c.479A>C (p.Asn160Thr)
n.637A>C
11g.17387614T>ACA379773351KCNJ11c.217A>T (p.Asn73Tyr)
c.478A>T (p.Asn160Tyr)
n.636A>T
11g.17387614T>CCA379773354KCNJ11c.217A>G (p.Asn73Asp)
c.478A>G (p.Asn160Asp)
n.636A>G
11g.17387614T>GCA379773356KCNJ11c.217A>C (p.Asn73His)
c.478A>C (p.Asn160His)
n.636A>C
11g.17387615G>ACA473515529KCNJ11c.216C>T (p.Ile72=)
c.477C>T (p.Ile159=)
n.635C>T
ClinVar dbSNP
11g.17387615G>CCA379773359KCNJ11c.216C>G (p.Ile72Met)
c.477C>G (p.Ile159Met)
n.635C>G
11g.17387615G=CA1955119330KCNJ11c.216C= (p.Ile72=)
c.477C= (p.Ile159=)
n.635C=
11g.17387615G>TCA473515530KCNJ11c.216C>A (p.Ile72=)
c.477C>A (p.Ile159=)
n.635C>A
dbSNP gnomAD v2
11g.17387616A>CCA379773364KCNJ11c.215T>G (p.Ile72Ser)
c.476T>G (p.Ile159Ser)
n.634T>G
11g.17387616A>GCA379773373KCNJ11c.215T>C (p.Ile72Thr)
c.476T>C (p.Ile159Thr)
n.634T>C
11g.17387616A>TCA379773377KCNJ11c.215T>A (p.Ile72Asn)
c.476T>A (p.Ile159Asn)
n.634T>A
11g.17387617T>ACA379773382KCNJ11c.214A>T (p.Ile72Phe)
c.475A>T (p.Ile159Phe)
n.633A>T
11g.17387617T>CCA218399889KCNJ11c.214A>G (p.Ile72Val)
c.475A>G (p.Ile159Val)
n.633A>G
dbSNP gnomAD v4
11g.17387617T>GCA379773400KCNJ11c.214A>C (p.Ile72Leu)
c.475A>C (p.Ile159Leu)
n.633A>C
11g.17387617T=CA1955119331KCNJ11c.214A= (p.Ile72=)
c.475A= (p.Ile159=)
n.633A=
11g.17387618C>ACA379773412KCNJ11c.213G>T (p.Met71Ile)
c.474G>T (p.Met158Ile)
n.632G>T
11g.17387618C>GCA379773415KCNJ11c.213G>C (p.Met71Ile)
c.474G>C (p.Met158Ile)
n.632G>C
11g.17387618C>TCA379773409KCNJ11c.213G>A (p.Met71Ile)
c.474G>A (p.Met158Ile)
n.632G>A
gnomAD v4
11g.17387619A=CA1955119332KCNJ11c.212T= (p.Met71=)
c.473T= (p.Met158=)
n.631T=
11g.17387619A>CCA379773426KCNJ11c.212T>G (p.Met71Arg)
c.473T>G (p.Met158Arg)
n.631T>G
11g.17387619A>GCA379773430KCNJ11c.212T>C (p.Met71Thr)
c.473T>C (p.Met158Thr)
n.631T>C
dbSNP gnomAD v4
11g.17387619A>TCA379773433KCNJ11c.212T>A (p.Met71Lys)
c.473T>A (p.Met158Lys)
n.631T>A
11g.17387620T>ACA379773437KCNJ11c.211A>T (p.Met71Leu)
c.472A>T (p.Met158Leu)
n.630A>T
ClinVar dbSNP
11g.17387620T>CCA379773438KCNJ11c.211A>G (p.Met71Val)
c.472A>G (p.Met158Val)
n.630A>G
ClinVar dbSNP gnomAD v4
11g.17387620T>GCA379773439KCNJ11c.211A>C (p.Met71Leu)
c.472A>C (p.Met158Leu)
n.630A>C
11g.17387620T=CA1955119333KCNJ11c.211A= (p.Met71=)
c.472A= (p.Met158=)
n.630A=
11g.17387621G>ACA218399891KCNJ11c.210C>T (p.Leu70=)
c.471C>T (p.Leu157=)
n.629C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387621G>CCA473515532KCNJ11c.210C>G (p.Leu70=)
c.471C>G (p.Leu157=)
n.629C>G
11g.17387621G=CA1955119334KCNJ11c.210C= (p.Leu70=)
c.471C= (p.Leu157=)
n.629C=
11g.17387621G>TCA473515531KCNJ11c.210C>A (p.Leu70=)
c.471C>A (p.Leu157=)
n.629C>A
11g.17387622A>CCA379773445KCNJ11c.209T>G (p.Leu70Arg)
c.470T>G (p.Leu157Arg)
n.628T>G
11g.17387622A>GCA379773450KCNJ11c.209T>C (p.Leu70Pro)
c.470T>C (p.Leu157Pro)
n.628T>C
11g.17387622A>TCA379773455KCNJ11c.209T>A (p.Leu70His)
c.470T>A (p.Leu157His)
n.628T>A
11g.17387623G>ACA379773460KCNJ11c.208C>T (p.Leu70Phe)
c.469C>T (p.Leu157Phe)
n.627C>T
11g.17387623G>CCA379773463KCNJ11c.208C>G (p.Leu70Val)
c.469C>G (p.Leu157Val)
n.627C>G
11g.17387623G>TCA379773466KCNJ11c.208C>A (p.Leu70Ile)
c.469C>A (p.Leu157Ile)
n.627C>A
11g.17387624C>ACA473515533KCNJ11c.207G>T (p.Gly69=)
c.468G>T (p.Gly156=)
n.626G>T
11g.17387624C=CA1955119335KCNJ11c.207G= (p.Gly69=)
c.468G= (p.Gly156=)
n.626G=
11g.17387624C>GCA473515534KCNJ11c.207G>C (p.Gly69=)
c.468G>C (p.Gly156=)
n.626G>C
11g.17387624C>TCA218399893KCNJ11c.207G>A (p.Gly69=)
c.468G>A (p.Gly156=)
n.626G>A
dbSNP
11g.17387625C>ACA379773495KCNJ11c.206G>T (p.Gly69Val)
c.467G>T (p.Gly156Val)
n.625G>T
11g.17387625C>GCA379773483KCNJ11c.206G>C (p.Gly69Ala)
c.467G>C (p.Gly156Ala)
n.625G>C
11g.17387625C>TCA379773478KCNJ11c.206G>A (p.Gly69Glu)
c.467G>A (p.Gly156Glu)
n.625G>A
11g.17387626C>ACA379773505KCNJ11c.205G>T (p.Gly69Trp)
c.466G>T (p.Gly156Trp)
n.624G>T
11g.17387626C=CA1955119336KCNJ11c.205G= (p.Gly69=)
c.466G= (p.Gly156=)
n.624G=
11g.17387626C>GCA379773513KCNJ11c.205G>C (p.Gly69Arg)
c.466G>C (p.Gly156Arg)
n.624G>C
11g.17387626C>TCA379773518KCNJ11c.205G>A (p.Gly69Arg)
c.466G>A (p.Gly156Arg)
n.624G>A
ClinVar dbSNP gnomAD v2
11g.17387627C>ACA473515535KCNJ11c.204G>T (p.Val68=)
c.465G>T (p.Val155=)
n.623G>T
11g.17387627C>GCA473515536KCNJ11c.204G>C (p.Val68=)
c.465G>C (p.Val155=)
n.623G>C
11g.17387627C>TCA473515537KCNJ11c.204G>A (p.Val68=)
c.465G>A (p.Val155=)
n.623G>A
11g.17387628A>CCA379773519KCNJ11c.203T>G (p.Val68Gly)
c.464T>G (p.Val155Gly)
n.622T>G
11g.17387628A>GCA379773520KCNJ11c.203T>C (p.Val68Ala)
c.464T>C (p.Val155Ala)
n.622T>C
11g.17387628A>TCA379773521KCNJ11c.203T>A (p.Val68Glu)
c.464T>A (p.Val155Glu)
n.622T>A
11g.17387629C>ACA379773523KCNJ11c.202G>T (p.Val68Leu)
c.463G>T (p.Val155Leu)
n.621G>T
gnomAD v4
11g.17387629C=CA1955119337KCNJ11c.202G= (p.Val68=)
c.463G= (p.Val155=)
n.621G=
11g.17387629C>GCA379773524KCNJ11c.202G>C (p.Val68Leu)
c.463G>C (p.Val155Leu)
n.621G>C
11g.17387629C>TCA172326KCNJ11c.202G>A (p.Val68Met)
c.463G>A (p.Val155Met)
n.621G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387630G>ACA218399904KCNJ11c.201C>T (p.Ile67=)
c.462C>T (p.Ile154=)
n.620C>T
ClinVar dbSNP gnomAD v4
11g.17387630G>CCA379773531KCNJ11c.201C>G (p.Ile67Met)
c.462C>G (p.Ile154Met)
n.620C>G
11g.17387630G=CA1955119338KCNJ11c.201C= (p.Ile67=)
c.462C= (p.Ile154=)
n.620C=
11g.17387630G>TCA473515538KCNJ11c.201C>A (p.Ile67=)
c.462C>A (p.Ile154=)
n.620C>A
dbSNP gnomAD v2 gnomAD v4
11g.17387631A>CCA379773535KCNJ11c.200T>G (p.Ile67Ser)
c.461T>G (p.Ile154Ser)
n.619T>G
11g.17387631A>GCA379773537KCNJ11c.200T>C (p.Ile67Thr)
c.461T>C (p.Ile154Thr)
n.619T>C
11g.17387631A>TCA379773539KCNJ11c.200T>A (p.Ile67Asn)
c.461T>A (p.Ile154Asn)
n.619T>A
11g.17387632T>ACA379773545KCNJ11c.199A>T (p.Ile67Phe)
c.460A>T (p.Ile154Phe)
n.618A>T
11g.17387632T>CCA379773549KCNJ11c.199A>G (p.Ile67Val)
c.460A>G (p.Ile154Val)
n.618A>G
dbSNP gnomAD v4
11g.17387632T>GCA379773542KCNJ11c.199A>C (p.Ile67Leu)
c.460A>C (p.Ile154Leu)
n.618A>C
11g.17387633G>ACA473515539KCNJ11c.198C>T (p.Asn66=)
c.459C>T (p.Asn153=)
n.617C>T
ClinVar dbSNP gnomAD v4
11g.17387633G>CCA379773551KCNJ11c.198C>G (p.Asn66Lys)
c.459C>G (p.Asn153Lys)
n.617C>G
11g.17387633G=CA1955119339KCNJ11c.198C= (p.Asn66=)
c.459C= (p.Asn153=)
n.617C=
11g.17387633G>TCA379773552KCNJ11c.198C>A (p.Asn66Lys)
c.459C>A (p.Asn153Lys)
n.617C>A
11g.17387634T>ACA379773555KCNJ11c.197A>T (p.Asn66Ile)
c.458A>T (p.Asn153Ile)
n.616A>T
11g.17387634T>CCA379773558KCNJ11c.197A>G (p.Asn66Ser)
c.458A>G (p.Asn153Ser)
n.616A>G
11g.17387634T>GCA379773559KCNJ11c.197A>C (p.Asn66Thr)
c.458A>C (p.Asn153Thr)
n.616A>C
11g.17387635T>ACA379773561KCNJ11c.196A>T (p.Asn66Tyr)
c.457A>T (p.Asn153Tyr)
n.615A>T
11g.17387635T>CCA379773563KCNJ11c.196A>G (p.Asn66Asp)
c.457A>G (p.Asn153Asp)
n.615A>G
11g.17387635T>GCA379773565KCNJ11c.196A>C (p.Asn66His)
c.457A>C (p.Asn153His)
n.615A>C
11g.17387636C>ACA379773569KCNJ11c.195G>T (p.Gln65His)
c.456G>T (p.Gln152His)
n.614G>T
dbSNP gnomAD v2 gnomAD v4
11g.17387636C=CA1955119340KCNJ11c.195G= (p.Gln65=)
c.456G= (p.Gln152=)
n.614G=
11g.17387636C>GCA379773570KCNJ11c.195G>C (p.Gln65His)
c.456G>C (p.Gln152His)
n.614G>C
11g.17387636C>TCA473515540KCNJ11c.195G>A (p.Gln65=)
c.456G>A (p.Gln152=)
n.614G>A
11g.17387637T>ACA379773571KCNJ11c.194A>T (p.Gln65Leu)
c.455A>T (p.Gln152Leu)
n.613A>T
11g.17387637T>CCA379773574KCNJ11c.194A>G (p.Gln65Arg)
c.455A>G (p.Gln152Arg)
n.613A>G
dbSNP gnomAD v3 gnomAD v4
11g.17387637T>GCA379773578KCNJ11c.194A>C (p.Gln65Pro)
c.455A>C (p.Gln152Pro)
n.613A>C
11g.17387637T=CA1955119341KCNJ11c.194A= (p.Gln65=)
c.455A= (p.Gln152=)
n.613A=
11g.17387638G>ACA379773587KCNJ11c.193C>T (p.Gln65Ter)
c.454C>T (p.Gln152Ter)
n.612C>T
11g.17387638G>CCA379773584KCNJ11c.193C>G (p.Gln65Glu)
c.454C>G (p.Gln152Glu)
n.612C>G
11g.17387638G>TCA379773585KCNJ11c.193C>A (p.Gln65Lys)
c.454C>A (p.Gln152Lys)
n.612C>A
11g.17387639C>ACA473515541KCNJ11c.192G>T (p.Val64=)
c.453G>T (p.Val151=)
n.611G>T
11g.17387639C>GCA473515542KCNJ11c.192G>C (p.Val64=)
c.453G>C (p.Val151=)
n.611G>C
11g.17387639C>TCA473515543KCNJ11c.192G>A (p.Val64=)
c.453G>A (p.Val151=)
n.611G>A
11g.17387640A>CCA379773595KCNJ11c.191T>G (p.Val64Gly)
c.452T>G (p.Val151Gly)
n.610T>G
11g.17387640A>GCA379773598KCNJ11c.191T>C (p.Val64Ala)
c.452T>C (p.Val151Ala)
n.610T>C
gnomAD v4
11g.17387640A>TCA379773602KCNJ11c.191T>A (p.Val64Glu)
c.452T>A (p.Val151Glu)
n.610T>A
11g.17387641C>ACA379773603KCNJ11c.190G>T (p.Val64Leu)
c.451G>T (p.Val151Leu)
n.609G>T
11g.17387641C=CA1955119342KCNJ11c.190G= (p.Val64=)
c.451G= (p.Val151=)
n.609G=
11g.17387641C>GCA379773606KCNJ11c.190G>C (p.Val64Leu)
c.451G>C (p.Val151Leu)
n.609G>C
11g.17387641C>TCA5902288KCNJ11c.190G>A (p.Val64Met)
c.451G>A (p.Val151Met)
n.609G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387642G>ACA5902289KCNJ11c.189C>T (p.Ile63=)
c.450C>T (p.Ile150=)
n.608C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387642G>CCA379773624KCNJ11c.189C>G (p.Ile63Met)
c.450C>G (p.Ile150Met)
n.608C>G
11g.17387642G=CA1955119343KCNJ11c.189C= (p.Ile63=)
c.450C= (p.Ile150=)
n.608C=
11g.17387642G>TCA473515544KCNJ11c.189C>A (p.Ile63=)
c.450C>A (p.Ile150=)
n.608C>A
11g.17387643A=CA1955119344KCNJ11c.221T=
c.188T= (p.Ile63=)
c.449T= (p.Ile150=)
c.466T=
n.607T=
11g.17387643A>CCA379773628KCNJ11c.221T>G
c.188T>G (p.Ile63Ser)
c.449T>G (p.Ile150Ser)
c.466T>G
n.607T>G
11g.17387643A>GCA379773630KCNJ11c.221T>C
c.188T>C (p.Ile63Thr)
c.449T>C (p.Ile150Thr)
c.466T>C
n.607T>C
dbSNP
11g.17387643A>TCA379773633KCNJ11c.221T>A
c.188T>A (p.Ile63Asn)
c.449T>A (p.Ile150Asn)
c.466T>A
n.607T>A
11g.17387644_17387652dupCA2561859217KCNJ11c.180_188dup (p.Leu62_Ile63insMetIleLeu)
c.441_449dup (p.Leu149_Ile150insMetIleLeu)
n.599_607dup
11g.17387644T>ACA379773639KCNJ11c.220A>T
c.187A>T (p.Ile63Phe)
c.448A>T (p.Ile150Phe)
c.465A>T
n.606A>T
11g.17387644T>CCA379773641KCNJ11c.220A>G
c.187A>G (p.Ile63Val)
c.448A>G (p.Ile150Val)
c.465A>G
n.606A>G
gnomAD v4
11g.17387644T>GCA379773640KCNJ11c.220A>C
c.187A>C (p.Ile63Leu)
c.448A>C (p.Ile150Leu)
c.465A>C
n.606A>C
11g.17387645G>ACA5902290KCNJ11c.219C>T (p.Leu73=)
c.186C>T (p.Leu62=)
c.447C>T (p.Leu149=)
c.464C>T
n.605C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387645G>CCA473515545KCNJ11c.219C>G (p.Leu73=)
c.186C>G (p.Leu62=)
c.447C>G (p.Leu149=)
c.464C>G
n.605C>G
11g.17387645G=CA1955119345KCNJ11c.219C= (p.Leu73=)
c.186C= (p.Leu62=)
c.447C= (p.Leu149=)
c.464C=
n.605C=
11g.17387645G>TCA473515546KCNJ11c.219C>A (p.Leu73=)
c.186C>A (p.Leu62=)
c.447C>A (p.Leu149=)
c.464C>A
n.605C>A
11g.17387646A>CCA379773647KCNJ11c.218T>G (p.Leu73Arg)
c.185T>G (p.Leu62Arg)
c.446T>G (p.Leu149Arg)
c.463T>G
n.604T>G
11g.17387646A>GCA379773660KCNJ11c.218T>C (p.Leu73Pro)
c.185T>C (p.Leu62Pro)
c.446T>C (p.Leu149Pro)
c.463T>C
n.604T>C
gnomAD v4
11g.17387646A>TCA379773665KCNJ11c.218T>A (p.Leu73His)
c.185T>A (p.Leu62His)
c.446T>A (p.Leu149His)
c.463T>A
n.604T>A
11g.17387647G>ACA379773668KCNJ11c.217C>T (p.Leu73Phe)
c.184C>T (p.Leu62Phe)
c.445C>T (p.Leu149Phe)
c.462C>T
n.603C>T
11g.17387647G>CCA379773671KCNJ11c.217C>G (p.Leu73Val)
c.184C>G (p.Leu62Val)
c.445C>G (p.Leu149Val)
c.462C>G
n.603C>G
11g.17387647G>TCA379773675KCNJ11c.217C>A (p.Leu73Ile)
c.184C>A (p.Leu62Ile)
c.445C>A (p.Leu149Ile)
c.462C>A
n.603C>A
11g.17387648G>ACA473515547KCNJ11c.216C>T (p.Ile72=)
c.183C>T (p.Ile61=)
c.444C>T (p.Ile148=)
c.461C>T
n.602C>T
gnomAD v4
11g.17387648G>CCA379773680KCNJ11c.216C>G (p.Ile72Met)
c.183C>G (p.Ile61Met)
c.444C>G (p.Ile148Met)
c.461C>G
n.602C>G
11g.17387648G>TCA473515548KCNJ11c.216C>A (p.Ile72=)
c.183C>A (p.Ile61=)
c.444C>A (p.Ile148=)
c.461C>A
n.602C>A
11g.17387649A>CCA379773682KCNJ11c.215T>G (p.Ile72Ser)
c.182T>G (p.Ile61Ser)
c.443T>G (p.Ile148Ser)
c.460T>G
n.601T>G
11g.17387649A>GCA379773683KCNJ11c.215T>C (p.Ile72Thr)
c.182T>C (p.Ile61Thr)
c.443T>C (p.Ile148Thr)
c.460T>C
n.601T>C
11g.17387649A>TCA379773684KCNJ11c.215T>A (p.Ile72Asn)
c.182T>A (p.Ile61Asn)
c.443T>A (p.Ile148Asn)
c.460T>A
n.601T>A
11g.17387650T>ACA379773688KCNJ11c.214A>T (p.Ile72Phe)
c.181A>T (p.Ile61Phe)
c.442A>T (p.Ile148Phe)
c.459A>T
n.600A>T
11g.17387650T>CCA379773696KCNJ11c.214A>G (p.Ile72Val)
c.181A>G (p.Ile61Val)
c.442A>G (p.Ile148Val)
c.459A>G
n.600A>G
11g.17387650T>GCA379773701KCNJ11c.214A>C (p.Ile72Leu)
c.181A>C (p.Ile61Leu)
c.442A>C (p.Ile148Leu)
c.459A>C
n.600A>C
11g.17387651C>ACA473515549KCNJ11c.213G>T (p.Leu71=)
c.180G>T (p.Leu60=)
c.441G>T (p.Leu147=)
c.458G>T
n.599G>T
dbSNP
11g.17387651C>GCA473515550KCNJ11c.213G>C (p.Leu71=)
c.180G>C (p.Leu60=)
c.441G>C (p.Leu147=)
c.458G>C
n.599G>C
11g.17387651C>TCA473515551KCNJ11c.213G>A (p.Leu71=)
c.180G>A (p.Leu60=)
c.441G>A (p.Leu147=)
c.458G>A
n.599G>A
gnomAD v4
11g.17387652A=CA1955119346KCNJ11c.212T= (p.Leu71=)
c.179T= (p.Leu60=)
c.440T= (p.Leu147=)
c.457T=
n.598T=
11g.17387652A>CCA379773712KCNJ11c.212T>G (p.Leu71Arg)
c.179T>G (p.Leu60Arg)
c.440T>G (p.Leu147Arg)
c.457T>G
n.598T>G
11g.17387652A>GCA254515KCNJ11c.212T>C (p.Leu71Pro)
c.179T>C (p.Leu60Pro)
c.440T>C (p.Leu147Pro)
c.457T>C
n.598T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387652A>TCA379773709KCNJ11c.212T>A (p.Leu71Gln)
c.179T>A (p.Leu60Gln)
c.440T>A (p.Leu147Gln)
c.457T>A
n.598T>A
11g.17387653G>ACA473515552KCNJ11c.211C>T (p.Leu71=)
c.178C>T (p.Leu60=)
c.439C>T (p.Leu147=)
c.456C>T
n.597C>T
11g.17387653G>CCA379773716KCNJ11c.211C>G (p.Leu71Val)
c.178C>G (p.Leu60Val)
c.439C>G (p.Leu147Val)
c.456C>G
n.597C>G
11g.17387653G>TCA379773717KCNJ11c.211C>A (p.Leu71Met)
c.178C>A (p.Leu60Met)
c.439C>A (p.Leu147Met)
c.456C>A
n.597C>A
11g.17387654delCA2612639023KCNJ11c.211del (p.Leu71Ter)
c.178del (p.Leu60Ter)
c.439del (p.Leu147Ter)
c.456del
n.597del
gnomAD v4
11g.17387654G>ACA473515553KCNJ11c.210C>T (p.Ile70=)
c.177C>T (p.Ile59=)
c.438C>T (p.Ile146=)
c.455C>T
n.596C>T
11g.17387654G>CCA379773718KCNJ11c.210C>G (p.Ile70Met)
c.177C>G (p.Ile59Met)
c.438C>G (p.Ile146Met)
c.455C>G
n.596C>G
11g.17387654G>TCA473515554KCNJ11c.210C>A (p.Ile70=)
c.177C>A (p.Ile59=)
c.438C>A (p.Ile146=)
c.455C>A
n.596C>A
11g.17387655A=CA1955119347KCNJ11c.209T= (p.Ile70=)
c.176T= (p.Ile59=)
c.437T= (p.Ile146=)
c.454T=
n.595T=
11g.17387655A>CCA379773721KCNJ11c.209T>G (p.Ile70Ser)
c.176T>G (p.Ile59Ser)
c.437T>G (p.Ile146Ser)
c.454T>G
n.595T>G
11g.17387655A>GCA379773724KCNJ11c.209T>C (p.Ile70Thr)
c.176T>C (p.Ile59Thr)
c.437T>C (p.Ile146Thr)
c.454T>C
n.595T>C
11g.17387655A>TCA379773731KCNJ11c.209T>A (p.Ile70Asn)
c.176T>A (p.Ile59Asn)
c.437T>A (p.Ile146Asn)
c.454T>A
n.595T>A
dbSNP gnomAD v2
11g.17387656T>ACA379773743KCNJ11c.208A>T (p.Ile70Phe)
c.175A>T (p.Ile59Phe)
c.436A>T (p.Ile146Phe)
c.453A>T
n.594A>T
11g.17387656T>CCA379773748KCNJ11c.208A>G (p.Ile70Val)
c.175A>G (p.Ile59Val)
c.436A>G (p.Ile146Val)
c.453A>G
n.594A>G
11g.17387656T>GCA379773752KCNJ11c.208A>C (p.Ile70Leu)
c.175A>C (p.Ile59Leu)
c.436A>C (p.Ile146Leu)
c.453A>C
n.594A>C
11g.17387657G>ACA473515556KCNJ11c.207C>T (p.Ala69=)
c.174C>T (p.Ala58=)
c.435C>T (p.Ala145=)
c.452C>T
n.593C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17387657G>CCA473515557KCNJ11c.207C>G (p.Ala69=)
c.174C>G (p.Ala58=)
c.435C>G (p.Ala145=)
c.452C>G
n.593C>G
11g.17387657G=CA1955119348KCNJ11c.207C= (p.Ala69=)
c.174C= (p.Ala58=)
c.435C= (p.Ala145=)
c.452C=
n.593C=
11g.17387657G>TCA473515555KCNJ11c.207C>A (p.Ala69=)
c.174C>A (p.Ala58=)
c.435C>A (p.Ala145=)
c.452C>A
n.593C>A
dbSNP gnomAD v4
11g.17387658G>ACA379773758KCNJ11c.206C>T (p.Ala69Val)
c.173C>T (p.Ala58Val)
c.434C>T (p.Ala145Val)
c.451C>T
n.592C>T
11g.17387658G>CCA379773762KCNJ11c.206C>G (p.Ala69Gly)
c.173C>G (p.Ala58Gly)
c.434C>G (p.Ala145Gly)
c.451C>G
n.592C>G
11g.17387658G>TCA379773766KCNJ11c.206C>A (p.Ala69Asp)
c.173C>A (p.Ala58Asp)
c.434C>A (p.Ala145Asp)
c.451C>A
n.592C>A

Number of alleles fetched