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