Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |