Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387558A>C | CA473515495 | KCNJ11 | c.273T>G (p.Ala91=) c.534T>G (p.Ala178=) n.692T>G | |
11 | g.17387558A>G | CA473515497 | KCNJ11 | c.273T>C (p.Ala91=) c.534T>C (p.Ala178=) n.692T>C | |
11 | g.17387558A>T | CA473515496 | KCNJ11 | c.273T>A (p.Ala91=) c.534T>A (p.Ala178=) n.692T>A | |
11 | g.17387559G>A | CA379772933 | KCNJ11 | c.272C>T (p.Ala91Val) c.533C>T (p.Ala178Val) n.691C>T | |
11 | g.17387559G>C | CA379772935 | KCNJ11 | c.272C>G (p.Ala91Gly) c.533C>G (p.Ala178Gly) n.691C>G | |
11 | g.17387559G>T | CA379772940 | KCNJ11 | c.272C>A (p.Ala91Asp) c.533C>A (p.Ala178Asp) n.691C>A | gnomAD v4 |
11 | g.17387559_17387560delinsGC | CA1955119309 | KCNJ11 | c.271_272delinsGC (p.Ala91=) c.532_533delinsGC (p.Ala178=) n.690_691delinsGC | |
11 | g.17387560C>A | CA379772947 | KCNJ11 | c.271G>T (p.Ala91Ser) c.532G>T (p.Ala178Ser) n.690G>T | |
11 | g.17387560C= | CA1955119310 | KCNJ11 | c.271G= (p.Ala91=) c.532G= (p.Ala178=) n.690G= | |
11 | g.17387560C>G | CA379772956 | KCNJ11 | c.271G>C (p.Ala91Pro) c.532G>C (p.Ala178Pro) n.690G>C | |
11 | g.17387560C>T | CA5902285 | KCNJ11 | c.271G>A (p.Ala91Thr) c.532G>A (p.Ala178Thr) n.690G>A | dbSNP ExAC gnomAD v2 COSMIC |
11 | g.17387562del | CA658656127 | KCNJ11 | c.271del (p.Ala91LeufsTer11) c.532del (p.Ala178LeufsTer11) n.690del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387561C>A | CA379772962 | KCNJ11 | c.270G>T (p.Arg90Ser) c.531G>T (p.Arg177Ser) n.689G>T | |
11 | g.17387561C>G | CA379772966 | KCNJ11 | c.270G>C (p.Arg90Ser) c.531G>C (p.Arg177Ser) n.689G>C | |
11 | g.17387561C>T | CA473515498 | KCNJ11 | c.270G>A (p.Arg90=) c.531G>A (p.Arg177=) n.689G>A | |
11 | g.17387562C>A | CA379772970 | KCNJ11 | c.269G>T (p.Arg90Met) c.530G>T (p.Arg177Met) n.688G>T | |
11 | g.17387562C>G | CA379772976 | KCNJ11 | c.269G>C (p.Arg90Thr) c.530G>C (p.Arg177Thr) n.688G>C | |
11 | g.17387562C>T | CA379772978 | KCNJ11 | c.269G>A (p.Arg90Lys) c.530G>A (p.Arg177Lys) n.688G>A | |
11 | g.17387563T>A | CA379772983 | KCNJ11 | c.268A>T (p.Arg90Trp) c.529A>T (p.Arg177Trp) n.687A>T | |
11 | g.17387563T>C | CA379772987 | KCNJ11 | c.268A>G (p.Arg90Gly) c.529A>G (p.Arg177Gly) n.687A>G | |
11 | g.17387563T>G | CA473515499 | KCNJ11 | c.268A>C (p.Arg90=) c.529A>C (p.Arg177=) n.687A>C | ClinVar |
11 | g.17387564G>A | CA473515500 | KCNJ11 | c.267C>T (p.Arg89=) c.528C>T (p.Arg176=) n.686C>T | |
11 | g.17387564G>C | CA473515501 | KCNJ11 | c.267C>G (p.Arg89=) c.528C>G (p.Arg176=) n.686C>G | |
11 | g.17387564G= | CA1955119311 | KCNJ11 | c.267C= (p.Arg89=) c.528C= (p.Arg176=) n.686C= | |
11 | g.17387564G>T | CA473515502 | KCNJ11 | c.267C>A (p.Arg89=) c.528C>A (p.Arg176=) n.686C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387565C>A | CA379772992 | KCNJ11 | c.266G>T (p.Arg89Leu) c.527G>T (p.Arg176Leu) n.685G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387565C= | CA1955119312 | KCNJ11 | c.266G= (p.Arg89=) c.527G= (p.Arg176=) n.685G= | |
11 | g.17387565C>G | CA379772999 | KCNJ11 | c.266G>C (p.Arg89Pro) c.527G>C (p.Arg176Pro) n.685G>C | |
11 | g.17387565C>T | CA379773008 | KCNJ11 | c.266G>A (p.Arg89His) c.527G>A (p.Arg176His) n.685G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387566G>A | CA205789 | KCNJ11 | c.265C>T (p.Arg89Cys) c.526C>T (p.Arg176Cys) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387566G>C | CA379773015 | KCNJ11 | c.265C>G (p.Arg89Gly) c.526C>G (p.Arg176Gly) n.684C>G | ClinVar |
11 | g.17387566G= | CA1955119313 | KCNJ11 | c.265C= (p.Arg89=) c.526C= (p.Arg176=) n.684C= | |
11 | g.17387566G>T | CA379773013 | KCNJ11 | c.265C>A (p.Arg89Ser) c.526C>A (p.Arg176Ser) n.684C>A | |
11 | g.17387567G>A | CA218399854 | KCNJ11 | c.264C>T (p.His88=) c.525C>T (p.His175=) n.683C>T | ClinVar dbSNP |
11 | g.17387567G>C | CA379773029 | KCNJ11 | c.264C>G (p.His88Gln) c.525C>G (p.His175Gln) n.683C>G | |
11 | g.17387567G= | CA1955119314 | KCNJ11 | c.264C= (p.His88=) c.525C= (p.His175=) n.683C= | |
11 | g.17387567G>T | CA10630460 | KCNJ11 | c.264C>A (p.His88Gln) c.525C>A (p.His175Gln) n.683C>A | ClinVar dbSNP gnomAD v4 |
11 | g.17387568T>A | CA379773037 | KCNJ11 | c.263A>T (p.His88Leu) c.524A>T (p.His175Leu) n.682A>T | |
11 | g.17387568T>C | CA379773038 | KCNJ11 | c.263A>G (p.His88Arg) c.524A>G (p.His175Arg) n.682A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387568T>G | CA379773044 | KCNJ11 | c.263A>C (p.His88Pro) c.524A>C (p.His175Pro) n.682A>C | |
11 | g.17387568T= | CA1955119315 | KCNJ11 | c.263A= (p.His88=) c.524A= (p.His175=) n.682A= | |
11 | g.17387569G>A | CA379773050 | KCNJ11 | c.262C>T (p.His88Tyr) c.523C>T (p.His175Tyr) n.681C>T | |
11 | g.17387569G>C | CA379773051 | KCNJ11 | c.262C>G (p.His88Asp) c.523C>G (p.His175Asp) n.681C>G | |
11 | g.17387569G>T | CA379773054 | KCNJ11 | c.262C>A (p.His88Asn) c.523C>A (p.His175Asn) n.681C>A | |
11 | g.17387570G>A | CA473515503 | KCNJ11 | c.261C>T (p.Ala87=) c.522C>T (p.Ala174=) n.680C>T | gnomAD v4 COSMIC |
11 | g.17387570G>C | CA473515504 | KCNJ11 | c.261C>G (p.Ala87=) c.522C>G (p.Ala174=) n.680C>G | |
11 | g.17387570G>T | CA473515505 | KCNJ11 | c.261C>A (p.Ala87=) c.522C>A (p.Ala174=) n.680C>A | COSMIC |
11 | g.17387571G>A | CA379773067 | KCNJ11 | c.260C>T (p.Ala87Val) c.521C>T (p.Ala174Val) n.679C>T | |
11 | g.17387571G>C | CA172330 | KCNJ11 | c.260C>G (p.Ala87Gly) c.521C>G (p.Ala174Gly) n.679C>G | ClinVar dbSNP |
11 | g.17387571G= | CA1955119316 | KCNJ11 | c.260C= (p.Ala87=) c.521C= (p.Ala174=) n.679C= | |
11 | g.17387571G>T | CA379773062 | KCNJ11 | c.260C>A (p.Ala87Asp) c.521C>A (p.Ala174Asp) n.679C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387572C>A | CA379773073 | KCNJ11 | c.259G>T (p.Ala87Ser) c.520G>T (p.Ala174Ser) n.678G>T | |
11 | g.17387572C>G | CA379773077 | KCNJ11 | c.259G>C (p.Ala87Pro) c.520G>C (p.Ala174Pro) n.678G>C | |
11 | g.17387572C>T | CA379773080 | KCNJ11 | c.259G>A (p.Ala87Thr) c.520G>A (p.Ala174Thr) n.678G>A | |
11 | g.17387573T>A | CA379773084 | KCNJ11 | c.258A>T (p.Gln86His) c.519A>T (p.Gln173His) n.677A>T | |
11 | g.17387573T>C | CA473515506 | KCNJ11 | c.258A>G (p.Gln86=) c.519A>G (p.Gln173=) n.677A>G | dbSNP |
11 | g.17387573T>G | CA379773087 | KCNJ11 | c.258A>C (p.Gln86His) c.519A>C (p.Gln173His) n.677A>C | |
11 | g.17387573T= | CA1955119317 | KCNJ11 | c.258A= (p.Gln86=) c.519A= (p.Gln173=) n.677A= | |
11 | g.17387574T>A | CA379773098 | KCNJ11 | c.257A>T (p.Gln86Leu) c.518A>T (p.Gln173Leu) n.676A>T | |
11 | g.17387574T>C | CA379773092 | KCNJ11 | c.257A>G (p.Gln86Arg) c.518A>G (p.Gln173Arg) n.676A>G | |
11 | g.17387574T>G | CA379773095 | KCNJ11 | c.257A>C (p.Gln86Pro) c.518A>C (p.Gln173Pro) n.676A>C | |
11 | g.17387575G>A | CA379773103 | KCNJ11 | c.256C>T (p.Gln86Ter) c.517C>T (p.Gln173Ter) n.675C>T | |
11 | g.17387575G>C | CA379773106 | KCNJ11 | c.256C>G (p.Gln86Glu) c.517C>G (p.Gln173Glu) n.675C>G | |
11 | g.17387575G>T | CA379773110 | KCNJ11 | c.256C>A (p.Gln86Lys) c.517C>A (p.Gln173Lys) n.675C>A | gnomAD v4 |
11 | g.17387576G>A | CA473515507 | KCNJ11 | c.255C>T (p.Ala85=) c.516C>T (p.Ala172=) n.674C>T | |
11 | g.17387576G>C | CA473515508 | KCNJ11 | c.255C>G (p.Ala85=) c.516C>G (p.Ala172=) n.674C>G | |
11 | g.17387576G>T | CA473515509 | KCNJ11 | c.255C>A (p.Ala85=) c.516C>A (p.Ala172=) n.674C>A | |
11 | g.17387577G>A | CA379773113 | KCNJ11 | c.254C>T (p.Ala85Val) c.515C>T (p.Ala172Val) n.673C>T | ClinVar dbSNP |
11 | g.17387577G>C | CA379773116 | KCNJ11 | c.254C>G (p.Ala85Gly) c.515C>G (p.Ala172Gly) n.673C>G | |
11 | g.17387577G= | CA1955119318 | KCNJ11 | c.254C= (p.Ala85=) c.515C= (p.Ala172=) n.673C= | |
11 | g.17387577G>T | CA379773118 | KCNJ11 | c.254C>A (p.Ala85Asp) c.515C>A (p.Ala172Asp) n.673C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387578C>A | CA379773121 | KCNJ11 | c.253G>T (p.Ala85Ser) c.514G>T (p.Ala172Ser) n.672G>T | gnomAD v4 |
11 | g.17387578C>G | CA379773123 | KCNJ11 | c.253G>C (p.Ala85Pro) c.514G>C (p.Ala172Pro) n.672G>C | |
11 | g.17387578C>T | CA379773126 | KCNJ11 | c.253G>A (p.Ala85Thr) c.514G>A (p.Ala172Thr) n.672G>A | |
11 | g.17387579A>C | CA473515510 | KCNJ11 | c.252T>G (p.Thr84=) c.513T>G (p.Thr171=) n.671T>G | |
11 | g.17387579A>G | CA473515511 | KCNJ11 | c.252T>C (p.Thr84=) c.513T>C (p.Thr171=) n.671T>C | gnomAD v4 |
11 | g.17387579A>T | CA473515512 | KCNJ11 | c.252T>A (p.Thr84=) c.513T>A (p.Thr171=) n.671T>A | |
11 | g.17387580G>A | CA379773131 | KCNJ11 | c.251C>T (p.Thr84Ile) c.512C>T (p.Thr171Ile) n.670C>T | |
11 | g.17387580G>C | CA379773132 | KCNJ11 | c.251C>G (p.Thr84Ser) c.512C>G (p.Thr171Ser) n.670C>G | |
11 | g.17387580G>T | CA379773133 | KCNJ11 | c.251C>A (p.Thr84Asn) c.512C>A (p.Thr171Asn) n.670C>A | |
11 | g.17387581T>A | CA379773134 | KCNJ11 | c.250A>T (p.Thr84Ser) c.511A>T (p.Thr171Ser) n.669A>T | |
11 | g.17387581T>C | CA379773137 | KCNJ11 | c.250A>G (p.Thr84Ala) c.511A>G (p.Thr171Ala) n.669A>G | |
11 | g.17387581T>G | CA379773136 | KCNJ11 | c.250A>C (p.Thr84Pro) c.511A>C (p.Thr171Pro) n.669A>C | |
11 | g.17387582C>A | CA379773142 | KCNJ11 | c.249G>T (p.Lys83Asn) c.510G>T (p.Lys170Asn) n.668G>T | |
11 | g.17387582C= | CA1955119319 | KCNJ11 | c.249G= (p.Lys83=) c.510G= (p.Lys170=) n.668G= | |
11 | g.17387582C>G | CA340807 | KCNJ11 | c.249G>C (p.Lys83Asn) c.510G>C (p.Lys170Asn) n.668G>C | ClinVar dbSNP |
11 | g.17387582C>T | CA473515513 | KCNJ11 | c.249G>A (p.Lys83=) c.510G>A (p.Lys170=) n.668G>A | |
11 | g.17387583T>A | CA379773151 | KCNJ11 | c.248A>T (p.Lys83Met) c.509A>T (p.Lys170Met) n.667A>T | |
11 | g.17387583T>C | CA340805 | KCNJ11 | c.248A>G (p.Lys83Arg) c.509A>G (p.Lys170Arg) n.667A>G | ClinVar dbSNP |
11 | g.17387583T>G | CA379773156 | KCNJ11 | c.248A>C (p.Lys83Thr) c.509A>C (p.Lys170Thr) n.667A>C | |
11 | g.17387583T= | CA1955119320 | KCNJ11 | c.248A= (p.Lys83=) c.509A= (p.Lys170=) n.667A= | |
11 | g.17387584T>A | CA379773160 | KCNJ11 | c.247A>T (p.Lys83Ter) c.508A>T (p.Lys170Ter) n.666A>T | |
11 | g.17387584T>C | CA379773161 | KCNJ11 | c.247A>G (p.Lys83Glu) c.508A>G (p.Lys170Glu) n.666A>G | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387584T>G | CA379773162 | KCNJ11 | c.247A>C (p.Lys83Gln) c.508A>C (p.Lys170Gln) n.666A>C | |
11 | g.17387584T= | CA1955119321 | KCNJ11 | c.247A= (p.Lys83=) c.508A= (p.Lys170=) n.666A= | |
11 | g.17387585C>A | CA379773163 | KCNJ11 | c.246G>T (p.Met82Ile) c.507G>T (p.Met169Ile) n.665G>T | |
11 | g.17387585C>G | CA379773164 | KCNJ11 | c.246G>C (p.Met82Ile) c.507G>C (p.Met169Ile) n.665G>C | |
11 | g.17387585C>T | CA379773165 | KCNJ11 | c.246G>A (p.Met82Ile) c.507G>A (p.Met169Ile) n.665G>A | |
11 | g.17387586A>C | CA379773171 | KCNJ11 | c.245T>G (p.Met82Arg) c.506T>G (p.Met169Arg) n.664T>G | |
11 | g.17387586A>G | CA379773168 | KCNJ11 | c.245T>C (p.Met82Thr) c.506T>C (p.Met169Thr) n.664T>C | |
11 | g.17387586A>T | CA379773167 | KCNJ11 | c.245T>A (p.Met82Lys) c.506T>A (p.Met169Lys) n.664T>A | |
11 | g.17387587T>A | CA379773174 | KCNJ11 | c.244A>T (p.Met82Leu) c.505A>T (p.Met169Leu) n.663A>T | |
11 | g.17387587T>C | CA379773182 | KCNJ11 | c.244A>G (p.Met82Val) c.505A>G (p.Met169Val) n.663A>G | gnomAD v4 |
11 | g.17387587T>G | CA379773183 | KCNJ11 | c.244A>C (p.Met82Leu) c.505A>C (p.Met169Leu) n.663A>C | |
11 | g.17387588G>A | CA473515514 | KCNJ11 | c.243C>T (p.Phe81=) c.504C>T (p.Phe168=) n.662C>T | |
11 | g.17387588G>C | CA379773184 | KCNJ11 | c.243C>G (p.Phe81Leu) c.504C>G (p.Phe168Leu) n.662C>G | |
11 | g.17387588G>T | CA379773185 | KCNJ11 | c.243C>A (p.Phe81Leu) c.504C>A (p.Phe168Leu) n.662C>A | |
11 | g.17387589A>C | CA379773190 | KCNJ11 | c.242T>G (p.Phe81Cys) c.503T>G (p.Phe168Cys) n.661T>G | |
11 | g.17387589A>G | CA379773192 | KCNJ11 | c.242T>C (p.Phe81Ser) c.503T>C (p.Phe168Ser) n.661T>C | |
11 | g.17387589A>T | CA379773194 | KCNJ11 | c.242T>A (p.Phe81Tyr) c.503T>A (p.Phe168Tyr) n.661T>A | |
11 | g.17387590A>C | CA379773198 | KCNJ11 | c.241T>G (p.Phe81Val) c.502T>G (p.Phe168Val) n.660T>G | |
11 | g.17387590A>G | CA379773200 | KCNJ11 | c.241T>C (p.Phe81Leu) c.502T>C (p.Phe168Leu) n.660T>C | |
11 | g.17387590A>T | CA379773202 | KCNJ11 | c.241T>A (p.Phe81Ile) c.502T>A (p.Phe168Ile) n.660T>A | |
11 | g.17387591G>A | CA473515515 | KCNJ11 | c.240C>T (p.Ile80=) c.501C>T (p.Ile167=) n.659C>T | |
11 | g.17387591G>C | CA379773205 | KCNJ11 | c.240C>G (p.Ile80Met) c.501C>G (p.Ile167Met) n.659C>G | COSMIC |
11 | g.17387591G>T | CA473515516 | KCNJ11 | c.240C>A (p.Ile80=) c.501C>A (p.Ile167=) n.659C>A | |
11 | g.17387592A>C | CA379773213 | KCNJ11 | c.239T>G (p.Ile80Ser) c.500T>G (p.Ile167Ser) n.658T>G | |
11 | g.17387592A>G | CA379773211 | KCNJ11 | c.239T>C (p.Ile80Thr) c.500T>C (p.Ile167Thr) n.658T>C | |
11 | g.17387592A>T | CA379773210 | KCNJ11 | c.239T>A (p.Ile80Asn) c.500T>A (p.Ile167Asn) n.658T>A | gnomAD v4 |
11 | g.17387593T>A | CA379773218 | KCNJ11 | c.238A>T (p.Ile80Phe) c.499A>T (p.Ile167Phe) n.657A>T | |
11 | g.17387593T>C | CA379773217 | KCNJ11 | c.238A>G (p.Ile80Val) c.499A>G (p.Ile167Val) n.657A>G | |
11 | g.17387593T>G | CA119835 | KCNJ11 | c.238A>C (p.Ile80Leu) c.499A>C (p.Ile167Leu) n.657A>C | ClinVar dbSNP |
11 | g.17387593T= | CA1955119322 | KCNJ11 | c.238A= (p.Ile80=) c.499A= (p.Ile167=) n.657A= | |
11 | g.17387594G>A | CA473515517 | KCNJ11 | c.237C>T (p.Cys79=) c.498C>T (p.Cys166=) n.656C>T | |
11 | g.17387594G>C | CA172328 | KCNJ11 | c.237C>G (p.Cys79Trp) c.498C>G (p.Cys166Trp) n.656C>G | ClinVar dbSNP |
11 | g.17387594G= | CA1955119323 | KCNJ11 | c.237C= (p.Cys79=) c.498C= (p.Cys166=) n.656C= | |
11 | g.17387594G>T | CA379773220 | KCNJ11 | c.237C>A (p.Cys79Ter) c.498C>A (p.Cys166Ter) n.656C>A | ClinVar dbSNP |
11 | g.17387595C>A | CA119833 | KCNJ11 | c.236G>T (p.Cys79Phe) c.497G>T (p.Cys166Phe) n.655G>T | ClinVar dbSNP |
11 | g.17387595C= | CA1955119324 | KCNJ11 | c.236G= (p.Cys79=) c.497G= (p.Cys166=) n.655G= | |
11 | g.17387595C>G | CA379773227 | KCNJ11 | c.236G>C (p.Cys79Ser) c.497G>C (p.Cys166Ser) n.655G>C | |
11 | g.17387595C>T | CA341720 | KCNJ11 | c.236G>A (p.Cys79Tyr) c.497G>A (p.Cys166Tyr) n.655G>A | ClinVar dbSNP |
11 | g.17387596A>C | CA379773233 | KCNJ11 | c.235T>G (p.Cys79Gly) c.496T>G (p.Cys166Gly) n.654T>G | |
11 | g.17387596A>G | CA379773235 | KCNJ11 | c.235T>C (p.Cys79Arg) c.496T>C (p.Cys166Arg) n.654T>C | |
11 | g.17387596A>T | CA379773238 | KCNJ11 | c.235T>A (p.Cys79Ser) c.496T>A (p.Cys166Ser) n.654T>A | |
11 | g.17387597G>A | CA473515518 | KCNJ11 | c.234C>T (p.Gly78=) c.495C>T (p.Gly165=) n.653C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387597G>C | CA473515519 | KCNJ11 | c.234C>G (p.Gly78=) c.495C>G (p.Gly165=) n.653C>G | |
11 | g.17387597G>T | CA473515520 | KCNJ11 | c.234C>A (p.Gly78=) c.495C>A (p.Gly165=) n.653C>A | |
11 | g.17387598C>A | CA379773241 | KCNJ11 | c.233G>T (p.Gly78Val) c.494G>T (p.Gly165Val) n.652G>T | |
11 | g.17387598C= | CA1955119325 | KCNJ11 | c.233G= (p.Gly78=) c.494G= (p.Gly165=) n.652G= | |
11 | g.17387598C>G | CA379773242 | KCNJ11 | c.233G>C (p.Gly78Ala) c.494G>C (p.Gly165Ala) n.652G>C | |
11 | g.17387598C>T | CA379773244 | KCNJ11 | c.233G>A (p.Gly78Asp) c.494G>A (p.Gly165Asp) n.652G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387598_17387601dup | CA2695201084 | KCNJ11 | c.230_233dup (p.Cys79TrpfsTer15) c.491_494dup (p.Cys166TrpfsTer15) n.649_652dup | ClinVar |
11 | g.17387599C>A | CA379773247 | KCNJ11 | c.232G>T (p.Gly78Cys) c.493G>T (p.Gly165Cys) n.651G>T | |
11 | g.17387599C= | CA1955119326 | KCNJ11 | c.232G= (p.Gly78=) c.493G= (p.Gly165=) n.651G= | |
11 | g.17387599C>G | CA379773246 | KCNJ11 | c.232G>C (p.Gly78Arg) c.493G>C (p.Gly165Arg) n.651G>C | |
11 | g.17387599C>T | CA5902286 | KCNJ11 | c.232G>A (p.Gly78Ser) c.493G>A (p.Gly165Ser) n.651G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387600A>C | CA473515521 | KCNJ11 | c.231T>G (p.Leu77=) c.492T>G (p.Leu164=) n.650T>G | |
11 | g.17387600A>G | CA473515522 | KCNJ11 | c.231T>C (p.Leu77=) c.492T>C (p.Leu164=) n.650T>C | |
11 | g.17387600A>T | CA473515523 | KCNJ11 | c.231T>A (p.Leu77=) c.492T>A (p.Leu164=) n.650T>A | |
11 | g.17387601A>C | CA379773252 | KCNJ11 | c.230T>G (p.Leu77Arg) c.491T>G (p.Leu164Arg) n.649T>G | |
11 | g.17387601A>G | CA379773258 | KCNJ11 | c.230T>C (p.Leu77Pro) c.491T>C (p.Leu164Pro) n.649T>C | ClinVar |
11 | g.17387601A>T | CA379773259 | KCNJ11 | c.230T>A (p.Leu77His) c.491T>A (p.Leu164His) n.649T>A | |
11 | g.17387602G>A | CA379773262 | KCNJ11 | c.229C>T (p.Leu77Phe) c.490C>T (p.Leu164Phe) n.648C>T | ClinVar dbSNP |
11 | g.17387602G>C | CA379773264 | KCNJ11 | c.229C>G (p.Leu77Val) c.490C>G (p.Leu164Val) n.648C>G | |
11 | g.17387602G= | CA1955119327 | KCNJ11 | c.229C= (p.Leu77=) c.490C= (p.Leu164=) n.648C= | |
11 | g.17387602G>T | CA379773266 | KCNJ11 | c.229C>A (p.Leu77Ile) c.490C>A (p.Leu164Ile) n.648C>A | ClinVar dbSNP |
11 | g.17387603C>A | CA379773269 | KCNJ11 | c.228G>T (p.Met76Ile) c.489G>T (p.Met163Ile) n.647G>T | |
11 | g.17387603C>G | CA379773278 | KCNJ11 | c.228G>C (p.Met76Ile) c.489G>C (p.Met163Ile) n.647G>C | |
11 | g.17387603C>T | CA379773281 | KCNJ11 | c.228G>A (p.Met76Ile) c.489G>A (p.Met163Ile) n.647G>A | |
11 | g.17387604A>C | CA379773284 | KCNJ11 | c.227T>G (p.Met76Arg) c.488T>G (p.Met163Arg) n.646T>G | |
11 | g.17387604A>G | CA379773287 | KCNJ11 | c.227T>C (p.Met76Thr) c.488T>C (p.Met163Thr) n.646T>C | ClinVar dbSNP |
11 | g.17387604A>T | CA379773289 | KCNJ11 | c.227T>A (p.Met76Lys) c.488T>A (p.Met163Lys) n.646T>A | |
11 | g.17387605T>A | CA379773293 | KCNJ11 | c.226A>T (p.Met76Leu) c.487A>T (p.Met163Leu) n.645A>T | |
11 | g.17387605T>C | CA379773295 | KCNJ11 | c.226A>G (p.Met76Val) c.487A>G (p.Met163Val) n.645A>G | |
11 | g.17387605T>G | CA379773291 | KCNJ11 | c.226A>C (p.Met76Leu) c.487A>C (p.Met163Leu) n.645A>C | |
11 | g.17387606G>A | CA473515524 | KCNJ11 | c.225C>T (p.Ile75=) c.486C>T (p.Ile162=) n.644C>T | |
11 | g.17387606G>C | CA379773298 | KCNJ11 | c.225C>G (p.Ile75Met) c.486C>G (p.Ile162Met) n.644C>G | |
11 | g.17387606G>T | CA473515525 | KCNJ11 | c.225C>A (p.Ile75=) c.486C>A (p.Ile162=) n.644C>A | |
11 | g.17387607A>C | CA379773301 | KCNJ11 | c.224T>G (p.Ile75Ser) c.485T>G (p.Ile162Ser) n.643T>G | |
11 | g.17387607A>G | CA379773303 | KCNJ11 | c.224T>C (p.Ile75Thr) c.485T>C (p.Ile162Thr) n.643T>C | |
11 | g.17387607A>T | CA379773305 | KCNJ11 | c.224T>A (p.Ile75Asn) c.485T>A (p.Ile162Asn) n.643T>A | |
11 | g.17387608T>A | CA379773310 | KCNJ11 | c.223A>T (p.Ile75Phe) c.484A>T (p.Ile162Phe) n.642A>T | |
11 | g.17387608T>C | CA379773312 | KCNJ11 | c.223A>G (p.Ile75Val) c.484A>G (p.Ile162Val) n.642A>G | |
11 | g.17387608T>G | CA379773315 | KCNJ11 | c.223A>C (p.Ile75Leu) c.484A>C (p.Ile162Leu) n.642A>C | |
11 | g.17387609G>A | CA473515526 | KCNJ11 | c.222C>T (p.Ala74=) c.483C>T (p.Ala161=) n.641C>T | |
11 | g.17387609G>C | CA473515527 | KCNJ11 | c.222C>G (p.Ala74=) c.483C>G (p.Ala161=) n.641C>G | |
11 | g.17387609G>T | CA473515528 | KCNJ11 | c.222C>A (p.Ala74=) c.483C>A (p.Ala161=) n.641C>A | |
11 | g.17387610G>A | CA379773326 | KCNJ11 | c.221C>T (p.Ala74Val) c.482C>T (p.Ala161Val) n.640C>T | gnomAD v4 |
11 | g.17387610G>C | CA379773330 | KCNJ11 | c.221C>G (p.Ala74Gly) c.482C>G (p.Ala161Gly) n.640C>G | |
11 | g.17387610G>T | CA379773332 | KCNJ11 | c.221C>A (p.Ala74Asp) c.482C>A (p.Ala161Asp) n.640C>A | |
11 | g.17387611C>A | CA379773337 | KCNJ11 | c.220G>T (p.Ala74Ser) c.481G>T (p.Ala161Ser) n.639G>T | |
11 | g.17387611C= | CA1955119328 | KCNJ11 | c.220G= (p.Ala74=) c.481G= (p.Ala161=) n.639G= | |
11 | g.17387611C>G | CA379773338 | KCNJ11 | c.220G>C (p.Ala74Pro) c.481G>C (p.Ala161Pro) n.639G>C | |
11 | g.17387611C>T | CA379773339 | KCNJ11 | c.220G>A (p.Ala74Thr) c.481G>A (p.Ala161Thr) n.639G>A | ClinVar dbSNP gnomAD v2 |
11 | g.17387612G>A | CA5902287 | KCNJ11 | c.219C>T (p.Asn73=) c.480C>T (p.Asn160=) n.638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387612G>C | CA379773344 | KCNJ11 | c.219C>G (p.Asn73Lys) c.480C>G (p.Asn160Lys) n.638C>G | |
11 | g.17387612G= | CA1955119329 | KCNJ11 | c.219C= (p.Asn73=) c.480C= (p.Asn160=) n.638C= | |
11 | g.17387612G>T | CA379773340 | KCNJ11 | c.219C>A (p.Asn73Lys) c.480C>A (p.Asn160Lys) n.638C>A | |
11 | g.17387613T>A | CA379773346 | KCNJ11 | c.218A>T (p.Asn73Ile) c.479A>T (p.Asn160Ile) n.637A>T | |
11 | g.17387613T>C | CA379773347 | KCNJ11 | c.218A>G (p.Asn73Ser) c.479A>G (p.Asn160Ser) n.637A>G | |
11 | g.17387613T>G | CA379773349 | KCNJ11 | c.218A>C (p.Asn73Thr) c.479A>C (p.Asn160Thr) n.637A>C | |
11 | g.17387614T>A | CA379773351 | KCNJ11 | c.217A>T (p.Asn73Tyr) c.478A>T (p.Asn160Tyr) n.636A>T | |
11 | g.17387614T>C | CA379773354 | KCNJ11 | c.217A>G (p.Asn73Asp) c.478A>G (p.Asn160Asp) n.636A>G | |
11 | g.17387614T>G | CA379773356 | KCNJ11 | c.217A>C (p.Asn73His) c.478A>C (p.Asn160His) n.636A>C | |
11 | g.17387615G>A | CA473515529 | KCNJ11 | c.216C>T (p.Ile72=) c.477C>T (p.Ile159=) n.635C>T | ClinVar dbSNP |
11 | g.17387615G>C | CA379773359 | KCNJ11 | c.216C>G (p.Ile72Met) c.477C>G (p.Ile159Met) n.635C>G | |
11 | g.17387615G= | CA1955119330 | KCNJ11 | c.216C= (p.Ile72=) c.477C= (p.Ile159=) n.635C= | |
11 | g.17387615G>T | CA473515530 | KCNJ11 | c.216C>A (p.Ile72=) c.477C>A (p.Ile159=) n.635C>A | dbSNP gnomAD v2 |
11 | g.17387616A>C | CA379773364 | KCNJ11 | c.215T>G (p.Ile72Ser) c.476T>G (p.Ile159Ser) n.634T>G | |
11 | g.17387616A>G | CA379773373 | KCNJ11 | c.215T>C (p.Ile72Thr) c.476T>C (p.Ile159Thr) n.634T>C | |
11 | g.17387616A>T | CA379773377 | KCNJ11 | c.215T>A (p.Ile72Asn) c.476T>A (p.Ile159Asn) n.634T>A | |
11 | g.17387617T>A | CA379773382 | KCNJ11 | c.214A>T (p.Ile72Phe) c.475A>T (p.Ile159Phe) n.633A>T | |
11 | g.17387617T>C | CA218399889 | KCNJ11 | c.214A>G (p.Ile72Val) c.475A>G (p.Ile159Val) n.633A>G | dbSNP gnomAD v4 |
11 | g.17387617T>G | CA379773400 | KCNJ11 | c.214A>C (p.Ile72Leu) c.475A>C (p.Ile159Leu) n.633A>C | |
11 | g.17387617T= | CA1955119331 | KCNJ11 | c.214A= (p.Ile72=) c.475A= (p.Ile159=) n.633A= | |
11 | g.17387618C>A | CA379773412 | KCNJ11 | c.213G>T (p.Met71Ile) c.474G>T (p.Met158Ile) n.632G>T | |
11 | g.17387618C>G | CA379773415 | KCNJ11 | c.213G>C (p.Met71Ile) c.474G>C (p.Met158Ile) n.632G>C | |
11 | g.17387618C>T | CA379773409 | KCNJ11 | c.213G>A (p.Met71Ile) c.474G>A (p.Met158Ile) n.632G>A | gnomAD v4 |
11 | g.17387619A= | CA1955119332 | KCNJ11 | c.212T= (p.Met71=) c.473T= (p.Met158=) n.631T= | |
11 | g.17387619A>C | CA379773426 | KCNJ11 | c.212T>G (p.Met71Arg) c.473T>G (p.Met158Arg) n.631T>G | |
11 | g.17387619A>G | CA379773430 | KCNJ11 | c.212T>C (p.Met71Thr) c.473T>C (p.Met158Thr) n.631T>C | dbSNP gnomAD v4 |
11 | g.17387619A>T | CA379773433 | KCNJ11 | c.212T>A (p.Met71Lys) c.473T>A (p.Met158Lys) n.631T>A | |
11 | g.17387620T>A | CA379773437 | KCNJ11 | c.211A>T (p.Met71Leu) c.472A>T (p.Met158Leu) n.630A>T | ClinVar dbSNP |
11 | g.17387620T>C | CA379773438 | KCNJ11 | c.211A>G (p.Met71Val) c.472A>G (p.Met158Val) n.630A>G | ClinVar dbSNP gnomAD v4 |
11 | g.17387620T>G | CA379773439 | KCNJ11 | c.211A>C (p.Met71Leu) c.472A>C (p.Met158Leu) n.630A>C | |
11 | g.17387620T= | CA1955119333 | KCNJ11 | c.211A= (p.Met71=) c.472A= (p.Met158=) n.630A= | |
11 | g.17387621G>A | CA218399891 | KCNJ11 | c.210C>T (p.Leu70=) c.471C>T (p.Leu157=) n.629C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387621G>C | CA473515532 | KCNJ11 | c.210C>G (p.Leu70=) c.471C>G (p.Leu157=) n.629C>G | |
11 | g.17387621G= | CA1955119334 | KCNJ11 | c.210C= (p.Leu70=) c.471C= (p.Leu157=) n.629C= | |
11 | g.17387621G>T | CA473515531 | KCNJ11 | c.210C>A (p.Leu70=) c.471C>A (p.Leu157=) n.629C>A | |
11 | g.17387622A>C | CA379773445 | KCNJ11 | c.209T>G (p.Leu70Arg) c.470T>G (p.Leu157Arg) n.628T>G | |
11 | g.17387622A>G | CA379773450 | KCNJ11 | c.209T>C (p.Leu70Pro) c.470T>C (p.Leu157Pro) n.628T>C | |
11 | g.17387622A>T | CA379773455 | KCNJ11 | c.209T>A (p.Leu70His) c.470T>A (p.Leu157His) n.628T>A | |
11 | g.17387623G>A | CA379773460 | KCNJ11 | c.208C>T (p.Leu70Phe) c.469C>T (p.Leu157Phe) n.627C>T | |
11 | g.17387623G>C | CA379773463 | KCNJ11 | c.208C>G (p.Leu70Val) c.469C>G (p.Leu157Val) n.627C>G | |
11 | g.17387623G>T | CA379773466 | KCNJ11 | c.208C>A (p.Leu70Ile) c.469C>A (p.Leu157Ile) n.627C>A | |
11 | g.17387624C>A | CA473515533 | KCNJ11 | c.207G>T (p.Gly69=) c.468G>T (p.Gly156=) n.626G>T | |
11 | g.17387624C= | CA1955119335 | KCNJ11 | c.207G= (p.Gly69=) c.468G= (p.Gly156=) n.626G= | |
11 | g.17387624C>G | CA473515534 | KCNJ11 | c.207G>C (p.Gly69=) c.468G>C (p.Gly156=) n.626G>C | |
11 | g.17387624C>T | CA218399893 | KCNJ11 | c.207G>A (p.Gly69=) c.468G>A (p.Gly156=) n.626G>A | dbSNP |
11 | g.17387625C>A | CA379773495 | KCNJ11 | c.206G>T (p.Gly69Val) c.467G>T (p.Gly156Val) n.625G>T | |
11 | g.17387625C>G | CA379773483 | KCNJ11 | c.206G>C (p.Gly69Ala) c.467G>C (p.Gly156Ala) n.625G>C | |
11 | g.17387625C>T | CA379773478 | KCNJ11 | c.206G>A (p.Gly69Glu) c.467G>A (p.Gly156Glu) n.625G>A | |
11 | g.17387626C>A | CA379773505 | KCNJ11 | c.205G>T (p.Gly69Trp) c.466G>T (p.Gly156Trp) n.624G>T | |
11 | g.17387626C= | CA1955119336 | KCNJ11 | c.205G= (p.Gly69=) c.466G= (p.Gly156=) n.624G= | |
11 | g.17387626C>G | CA379773513 | KCNJ11 | c.205G>C (p.Gly69Arg) c.466G>C (p.Gly156Arg) n.624G>C | |
11 | g.17387626C>T | CA379773518 | KCNJ11 | c.205G>A (p.Gly69Arg) c.466G>A (p.Gly156Arg) n.624G>A | ClinVar dbSNP gnomAD v2 |
11 | g.17387627C>A | CA473515535 | KCNJ11 | c.204G>T (p.Val68=) c.465G>T (p.Val155=) n.623G>T | |
11 | g.17387627C>G | CA473515536 | KCNJ11 | c.204G>C (p.Val68=) c.465G>C (p.Val155=) n.623G>C | |
11 | g.17387627C>T | CA473515537 | KCNJ11 | c.204G>A (p.Val68=) c.465G>A (p.Val155=) n.623G>A | |
11 | g.17387628A>C | CA379773519 | KCNJ11 | c.203T>G (p.Val68Gly) c.464T>G (p.Val155Gly) n.622T>G | |
11 | g.17387628A>G | CA379773520 | KCNJ11 | c.203T>C (p.Val68Ala) c.464T>C (p.Val155Ala) n.622T>C | |
11 | g.17387628A>T | CA379773521 | KCNJ11 | c.203T>A (p.Val68Glu) c.464T>A (p.Val155Glu) n.622T>A | |
11 | g.17387629C>A | CA379773523 | KCNJ11 | c.202G>T (p.Val68Leu) c.463G>T (p.Val155Leu) n.621G>T | gnomAD v4 |
11 | g.17387629C= | CA1955119337 | KCNJ11 | c.202G= (p.Val68=) c.463G= (p.Val155=) n.621G= | |
11 | g.17387629C>G | CA379773524 | KCNJ11 | c.202G>C (p.Val68Leu) c.463G>C (p.Val155Leu) n.621G>C | |
11 | g.17387629C>T | CA172326 | KCNJ11 | c.202G>A (p.Val68Met) c.463G>A (p.Val155Met) n.621G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387630G>A | CA218399904 | KCNJ11 | c.201C>T (p.Ile67=) c.462C>T (p.Ile154=) n.620C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387630G>C | CA379773531 | KCNJ11 | c.201C>G (p.Ile67Met) c.462C>G (p.Ile154Met) n.620C>G | |
11 | g.17387630G= | CA1955119338 | KCNJ11 | c.201C= (p.Ile67=) c.462C= (p.Ile154=) n.620C= | |
11 | g.17387630G>T | CA473515538 | KCNJ11 | c.201C>A (p.Ile67=) c.462C>A (p.Ile154=) n.620C>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387631A>C | CA379773535 | KCNJ11 | c.200T>G (p.Ile67Ser) c.461T>G (p.Ile154Ser) n.619T>G | |
11 | g.17387631A>G | CA379773537 | KCNJ11 | c.200T>C (p.Ile67Thr) c.461T>C (p.Ile154Thr) n.619T>C | |
11 | g.17387631A>T | CA379773539 | KCNJ11 | c.200T>A (p.Ile67Asn) c.461T>A (p.Ile154Asn) n.619T>A | |
11 | g.17387632T>A | CA379773545 | KCNJ11 | c.199A>T (p.Ile67Phe) c.460A>T (p.Ile154Phe) n.618A>T | |
11 | g.17387632T>C | CA379773549 | KCNJ11 | c.199A>G (p.Ile67Val) c.460A>G (p.Ile154Val) n.618A>G | dbSNP gnomAD v4 |
11 | g.17387632T>G | CA379773542 | KCNJ11 | c.199A>C (p.Ile67Leu) c.460A>C (p.Ile154Leu) n.618A>C | |
11 | g.17387633G>A | CA473515539 | KCNJ11 | c.198C>T (p.Asn66=) c.459C>T (p.Asn153=) n.617C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387633G>C | CA379773551 | KCNJ11 | c.198C>G (p.Asn66Lys) c.459C>G (p.Asn153Lys) n.617C>G | |
11 | g.17387633G= | CA1955119339 | KCNJ11 | c.198C= (p.Asn66=) c.459C= (p.Asn153=) n.617C= | |
11 | g.17387633G>T | CA379773552 | KCNJ11 | c.198C>A (p.Asn66Lys) c.459C>A (p.Asn153Lys) n.617C>A | |
11 | g.17387634T>A | CA379773555 | KCNJ11 | c.197A>T (p.Asn66Ile) c.458A>T (p.Asn153Ile) n.616A>T | |
11 | g.17387634T>C | CA379773558 | KCNJ11 | c.197A>G (p.Asn66Ser) c.458A>G (p.Asn153Ser) n.616A>G | |
11 | g.17387634T>G | CA379773559 | KCNJ11 | c.197A>C (p.Asn66Thr) c.458A>C (p.Asn153Thr) n.616A>C | |
11 | g.17387635T>A | CA379773561 | KCNJ11 | c.196A>T (p.Asn66Tyr) c.457A>T (p.Asn153Tyr) n.615A>T | |
11 | g.17387635T>C | CA379773563 | KCNJ11 | c.196A>G (p.Asn66Asp) c.457A>G (p.Asn153Asp) n.615A>G | |
11 | g.17387635T>G | CA379773565 | KCNJ11 | c.196A>C (p.Asn66His) c.457A>C (p.Asn153His) n.615A>C | |
11 | g.17387636C>A | CA379773569 | KCNJ11 | c.195G>T (p.Gln65His) c.456G>T (p.Gln152His) n.614G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.17387636C= | CA1955119340 | KCNJ11 | c.195G= (p.Gln65=) c.456G= (p.Gln152=) n.614G= | |
11 | g.17387636C>G | CA379773570 | KCNJ11 | c.195G>C (p.Gln65His) c.456G>C (p.Gln152His) n.614G>C | |
11 | g.17387636C>T | CA473515540 | KCNJ11 | c.195G>A (p.Gln65=) c.456G>A (p.Gln152=) n.614G>A | |
11 | g.17387637T>A | CA379773571 | KCNJ11 | c.194A>T (p.Gln65Leu) c.455A>T (p.Gln152Leu) n.613A>T | |
11 | g.17387637T>C | CA379773574 | KCNJ11 | c.194A>G (p.Gln65Arg) c.455A>G (p.Gln152Arg) n.613A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387637T>G | CA379773578 | KCNJ11 | c.194A>C (p.Gln65Pro) c.455A>C (p.Gln152Pro) n.613A>C | |
11 | g.17387637T= | CA1955119341 | KCNJ11 | c.194A= (p.Gln65=) c.455A= (p.Gln152=) n.613A= | |
11 | g.17387638G>A | CA379773587 | KCNJ11 | c.193C>T (p.Gln65Ter) c.454C>T (p.Gln152Ter) n.612C>T | |
11 | g.17387638G>C | CA379773584 | KCNJ11 | c.193C>G (p.Gln65Glu) c.454C>G (p.Gln152Glu) n.612C>G | |
11 | g.17387638G>T | CA379773585 | KCNJ11 | c.193C>A (p.Gln65Lys) c.454C>A (p.Gln152Lys) n.612C>A | |
11 | g.17387639C>A | CA473515541 | KCNJ11 | c.192G>T (p.Val64=) c.453G>T (p.Val151=) n.611G>T | |
11 | g.17387639C>G | CA473515542 | KCNJ11 | c.192G>C (p.Val64=) c.453G>C (p.Val151=) n.611G>C | |
11 | g.17387639C>T | CA473515543 | KCNJ11 | c.192G>A (p.Val64=) c.453G>A (p.Val151=) n.611G>A | |
11 | g.17387640A>C | CA379773595 | KCNJ11 | c.191T>G (p.Val64Gly) c.452T>G (p.Val151Gly) n.610T>G | |
11 | g.17387640A>G | CA379773598 | KCNJ11 | c.191T>C (p.Val64Ala) c.452T>C (p.Val151Ala) n.610T>C | gnomAD v4 |
11 | g.17387640A>T | CA379773602 | KCNJ11 | c.191T>A (p.Val64Glu) c.452T>A (p.Val151Glu) n.610T>A | |
11 | g.17387641C>A | CA379773603 | KCNJ11 | c.190G>T (p.Val64Leu) c.451G>T (p.Val151Leu) n.609G>T | |
11 | g.17387641C= | CA1955119342 | KCNJ11 | c.190G= (p.Val64=) c.451G= (p.Val151=) n.609G= | |
11 | g.17387641C>G | CA379773606 | KCNJ11 | c.190G>C (p.Val64Leu) c.451G>C (p.Val151Leu) n.609G>C | |
11 | g.17387641C>T | CA5902288 | KCNJ11 | c.190G>A (p.Val64Met) c.451G>A (p.Val151Met) n.609G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.17387642G>A | CA5902289 | KCNJ11 | c.189C>T (p.Ile63=) c.450C>T (p.Ile150=) n.608C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387642G>C | CA379773624 | KCNJ11 | c.189C>G (p.Ile63Met) c.450C>G (p.Ile150Met) n.608C>G | |
11 | g.17387642G= | CA1955119343 | KCNJ11 | c.189C= (p.Ile63=) c.450C= (p.Ile150=) n.608C= | |
11 | g.17387642G>T | CA473515544 | KCNJ11 | c.189C>A (p.Ile63=) c.450C>A (p.Ile150=) n.608C>A | |
11 | g.17387643A= | CA1955119344 | KCNJ11 | c.221T= c.188T= (p.Ile63=) c.449T= (p.Ile150=) c.466T= n.607T= | |
11 | g.17387643A>C | CA379773628 | KCNJ11 | c.221T>G c.188T>G (p.Ile63Ser) c.449T>G (p.Ile150Ser) c.466T>G n.607T>G | |
11 | g.17387643A>G | CA379773630 | KCNJ11 | c.221T>C c.188T>C (p.Ile63Thr) c.449T>C (p.Ile150Thr) c.466T>C n.607T>C | dbSNP |
11 | g.17387643A>T | CA379773633 | KCNJ11 | c.221T>A c.188T>A (p.Ile63Asn) c.449T>A (p.Ile150Asn) c.466T>A n.607T>A | |
11 | g.17387644_17387652dup | CA2561859217 | KCNJ11 | c.180_188dup (p.Leu62_Ile63insMetIleLeu) c.441_449dup (p.Leu149_Ile150insMetIleLeu) n.599_607dup | |
11 | g.17387644T>A | CA379773639 | KCNJ11 | c.220A>T c.187A>T (p.Ile63Phe) c.448A>T (p.Ile150Phe) c.465A>T n.606A>T | |
11 | g.17387644T>C | CA379773641 | KCNJ11 | c.220A>G c.187A>G (p.Ile63Val) c.448A>G (p.Ile150Val) c.465A>G n.606A>G | gnomAD v4 |
11 | g.17387644T>G | CA379773640 | KCNJ11 | c.220A>C c.187A>C (p.Ile63Leu) c.448A>C (p.Ile150Leu) c.465A>C n.606A>C | |
11 | g.17387645G>A | CA5902290 | KCNJ11 | c.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 |
11 | g.17387645G>C | CA473515545 | KCNJ11 | c.219C>G (p.Leu73=) c.186C>G (p.Leu62=) c.447C>G (p.Leu149=) c.464C>G n.605C>G | |
11 | g.17387645G= | CA1955119345 | KCNJ11 | c.219C= (p.Leu73=) c.186C= (p.Leu62=) c.447C= (p.Leu149=) c.464C= n.605C= | |
11 | g.17387645G>T | CA473515546 | KCNJ11 | c.219C>A (p.Leu73=) c.186C>A (p.Leu62=) c.447C>A (p.Leu149=) c.464C>A n.605C>A | |
11 | g.17387646A>C | CA379773647 | KCNJ11 | c.218T>G (p.Leu73Arg) c.185T>G (p.Leu62Arg) c.446T>G (p.Leu149Arg) c.463T>G n.604T>G | |
11 | g.17387646A>G | CA379773660 | KCNJ11 | c.218T>C (p.Leu73Pro) c.185T>C (p.Leu62Pro) c.446T>C (p.Leu149Pro) c.463T>C n.604T>C | gnomAD v4 |
11 | g.17387646A>T | CA379773665 | KCNJ11 | c.218T>A (p.Leu73His) c.185T>A (p.Leu62His) c.446T>A (p.Leu149His) c.463T>A n.604T>A | |
11 | g.17387647G>A | CA379773668 | KCNJ11 | c.217C>T (p.Leu73Phe) c.184C>T (p.Leu62Phe) c.445C>T (p.Leu149Phe) c.462C>T n.603C>T | |
11 | g.17387647G>C | CA379773671 | KCNJ11 | c.217C>G (p.Leu73Val) c.184C>G (p.Leu62Val) c.445C>G (p.Leu149Val) c.462C>G n.603C>G | |
11 | g.17387647G>T | CA379773675 | KCNJ11 | c.217C>A (p.Leu73Ile) c.184C>A (p.Leu62Ile) c.445C>A (p.Leu149Ile) c.462C>A n.603C>A | |
11 | g.17387648G>A | CA473515547 | KCNJ11 | c.216C>T (p.Ile72=) c.183C>T (p.Ile61=) c.444C>T (p.Ile148=) c.461C>T n.602C>T | gnomAD v4 |
11 | g.17387648G>C | CA379773680 | KCNJ11 | c.216C>G (p.Ile72Met) c.183C>G (p.Ile61Met) c.444C>G (p.Ile148Met) c.461C>G n.602C>G | |
11 | g.17387648G>T | CA473515548 | KCNJ11 | c.216C>A (p.Ile72=) c.183C>A (p.Ile61=) c.444C>A (p.Ile148=) c.461C>A n.602C>A | |
11 | g.17387649A>C | CA379773682 | KCNJ11 | c.215T>G (p.Ile72Ser) c.182T>G (p.Ile61Ser) c.443T>G (p.Ile148Ser) c.460T>G n.601T>G | |
11 | g.17387649A>G | CA379773683 | KCNJ11 | c.215T>C (p.Ile72Thr) c.182T>C (p.Ile61Thr) c.443T>C (p.Ile148Thr) c.460T>C n.601T>C | |
11 | g.17387649A>T | CA379773684 | KCNJ11 | c.215T>A (p.Ile72Asn) c.182T>A (p.Ile61Asn) c.443T>A (p.Ile148Asn) c.460T>A n.601T>A | |
11 | g.17387650T>A | CA379773688 | KCNJ11 | c.214A>T (p.Ile72Phe) c.181A>T (p.Ile61Phe) c.442A>T (p.Ile148Phe) c.459A>T n.600A>T | |
11 | g.17387650T>C | CA379773696 | KCNJ11 | c.214A>G (p.Ile72Val) c.181A>G (p.Ile61Val) c.442A>G (p.Ile148Val) c.459A>G n.600A>G | |
11 | g.17387650T>G | CA379773701 | KCNJ11 | c.214A>C (p.Ile72Leu) c.181A>C (p.Ile61Leu) c.442A>C (p.Ile148Leu) c.459A>C n.600A>C | |
11 | g.17387651C>A | CA473515549 | KCNJ11 | c.213G>T (p.Leu71=) c.180G>T (p.Leu60=) c.441G>T (p.Leu147=) c.458G>T n.599G>T | dbSNP |
11 | g.17387651C>G | CA473515550 | KCNJ11 | c.213G>C (p.Leu71=) c.180G>C (p.Leu60=) c.441G>C (p.Leu147=) c.458G>C n.599G>C | |
11 | g.17387651C>T | CA473515551 | KCNJ11 | c.213G>A (p.Leu71=) c.180G>A (p.Leu60=) c.441G>A (p.Leu147=) c.458G>A n.599G>A | gnomAD v4 |
11 | g.17387652A= | CA1955119346 | KCNJ11 | c.212T= (p.Leu71=) c.179T= (p.Leu60=) c.440T= (p.Leu147=) c.457T= n.598T= | |
11 | g.17387652A>C | CA379773712 | KCNJ11 | c.212T>G (p.Leu71Arg) c.179T>G (p.Leu60Arg) c.440T>G (p.Leu147Arg) c.457T>G n.598T>G | |
11 | g.17387652A>G | CA254515 | KCNJ11 | c.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 |
11 | g.17387652A>T | CA379773709 | KCNJ11 | c.212T>A (p.Leu71Gln) c.179T>A (p.Leu60Gln) c.440T>A (p.Leu147Gln) c.457T>A n.598T>A | |
11 | g.17387653G>A | CA473515552 | KCNJ11 | c.211C>T (p.Leu71=) c.178C>T (p.Leu60=) c.439C>T (p.Leu147=) c.456C>T n.597C>T | |
11 | g.17387653G>C | CA379773716 | KCNJ11 | c.211C>G (p.Leu71Val) c.178C>G (p.Leu60Val) c.439C>G (p.Leu147Val) c.456C>G n.597C>G | |
11 | g.17387653G>T | CA379773717 | KCNJ11 | c.211C>A (p.Leu71Met) c.178C>A (p.Leu60Met) c.439C>A (p.Leu147Met) c.456C>A n.597C>A | |
11 | g.17387654del | CA2612639023 | KCNJ11 | c.211del (p.Leu71Ter) c.178del (p.Leu60Ter) c.439del (p.Leu147Ter) c.456del n.597del | gnomAD v4 |
11 | g.17387654G>A | CA473515553 | KCNJ11 | c.210C>T (p.Ile70=) c.177C>T (p.Ile59=) c.438C>T (p.Ile146=) c.455C>T n.596C>T | |
11 | g.17387654G>C | CA379773718 | KCNJ11 | c.210C>G (p.Ile70Met) c.177C>G (p.Ile59Met) c.438C>G (p.Ile146Met) c.455C>G n.596C>G | |
11 | g.17387654G>T | CA473515554 | KCNJ11 | c.210C>A (p.Ile70=) c.177C>A (p.Ile59=) c.438C>A (p.Ile146=) c.455C>A n.596C>A | |
11 | g.17387655A= | CA1955119347 | KCNJ11 | c.209T= (p.Ile70=) c.176T= (p.Ile59=) c.437T= (p.Ile146=) c.454T= n.595T= | |
11 | g.17387655A>C | CA379773721 | KCNJ11 | c.209T>G (p.Ile70Ser) c.176T>G (p.Ile59Ser) c.437T>G (p.Ile146Ser) c.454T>G n.595T>G | |
11 | g.17387655A>G | CA379773724 | KCNJ11 | c.209T>C (p.Ile70Thr) c.176T>C (p.Ile59Thr) c.437T>C (p.Ile146Thr) c.454T>C n.595T>C | |
11 | g.17387655A>T | CA379773731 | KCNJ11 | c.209T>A (p.Ile70Asn) c.176T>A (p.Ile59Asn) c.437T>A (p.Ile146Asn) c.454T>A n.595T>A | dbSNP gnomAD v2 |
11 | g.17387656T>A | CA379773743 | KCNJ11 | c.208A>T (p.Ile70Phe) c.175A>T (p.Ile59Phe) c.436A>T (p.Ile146Phe) c.453A>T n.594A>T | |
11 | g.17387656T>C | CA379773748 | KCNJ11 | c.208A>G (p.Ile70Val) c.175A>G (p.Ile59Val) c.436A>G (p.Ile146Val) c.453A>G n.594A>G | |
11 | g.17387656T>G | CA379773752 | KCNJ11 | c.208A>C (p.Ile70Leu) c.175A>C (p.Ile59Leu) c.436A>C (p.Ile146Leu) c.453A>C n.594A>C | |
11 | g.17387657G>A | CA473515556 | KCNJ11 | c.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 |
11 | g.17387657G>C | CA473515557 | KCNJ11 | c.207C>G (p.Ala69=) c.174C>G (p.Ala58=) c.435C>G (p.Ala145=) c.452C>G n.593C>G | |
11 | g.17387657G= | CA1955119348 | KCNJ11 | c.207C= (p.Ala69=) c.174C= (p.Ala58=) c.435C= (p.Ala145=) c.452C= n.593C= | |
11 | g.17387657G>T | CA473515555 | KCNJ11 | c.207C>A (p.Ala69=) c.174C>A (p.Ala58=) c.435C>A (p.Ala145=) c.452C>A n.593C>A | dbSNP gnomAD v4 |
11 | g.17387658G>A | CA379773758 | KCNJ11 | c.206C>T (p.Ala69Val) c.173C>T (p.Ala58Val) c.434C>T (p.Ala145Val) c.451C>T n.592C>T | |
11 | g.17387658G>C | CA379773762 | KCNJ11 | c.206C>G (p.Ala69Gly) c.173C>G (p.Ala58Gly) c.434C>G (p.Ala145Gly) c.451C>G n.592C>G | |
11 | g.17387658G>T | CA379773766 | KCNJ11 | c.206C>A (p.Ala69Asp) c.173C>A (p.Ala58Asp) c.434C>A (p.Ala145Asp) c.451C>A n.592C>A |