| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387471C>A | CA379772092 | KCNJ11 | c.360G>T (p.Lys120Asn) c.621G>T (p.Lys207Asn) n.779G>T | |
| 11 | g.17387471C= | CA1955119271 | KCNJ11 | c.360G= (p.Lys120=) c.621G= (p.Lys207=) n.779G= | |
| 11 | g.17387471C>G | CA379772093 | KCNJ11 | c.360G>C (p.Lys120Asn) c.621G>C (p.Lys207Asn) n.779G>C | dbSNP |
| 11 | g.17387471C>T | CA5902272 | KCNJ11 | c.360G>A (p.Lys120=) c.621G>A (p.Lys207=) n.779G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387472T>A | CA379772114 | KCNJ11 | c.359A>T (p.Lys120Met) c.620A>T (p.Lys207Met) n.778A>T | |
| 11 | g.17387472T>C | CA379772103 | KCNJ11 | c.359A>G (p.Lys120Arg) c.620A>G (p.Lys207Arg) n.778A>G | |
| 11 | g.17387472T>G | CA379772100 | KCNJ11 | c.359A>C (p.Lys120Thr) c.620A>C (p.Lys207Thr) n.778A>C | |
| 11 | g.17387473T>A | CA379772130 | KCNJ11 | c.358A>T (p.Lys120Ter) c.619A>T (p.Lys207Ter) n.777A>T | |
| 11 | g.17387473T>C | CA379772132 | KCNJ11 | c.358A>G (p.Lys120Glu) c.619A>G (p.Lys207Glu) n.777A>G | |
| 11 | g.17387473T>G | CA379772134 | KCNJ11 | c.358A>C (p.Lys120Gln) c.619A>C (p.Lys207Gln) n.777A>C | |
| 11 | g.17387474G>A | CA473515684 | KCNJ11 | c.357C>T (p.Arg119=) c.618C>T (p.Arg206=) n.776C>T | |
| 11 | g.17387474G>C | CA473515685 | KCNJ11 | c.357C>G (p.Arg119=) c.618C>G (p.Arg206=) n.776C>G | |
| 11 | g.17387474G>T | CA473515686 | KCNJ11 | c.357C>A (p.Arg119=) c.618C>A (p.Arg206=) n.776C>A | |
| 11 | g.17387475C>A | CA379772137 | KCNJ11 | c.356G>T (p.Arg119Leu) c.617G>T (p.Arg206Leu) n.775G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387475C= | CA1955119272 | KCNJ11 | c.356G= (p.Arg119=) c.617G= (p.Arg206=) n.775G= | |
| 11 | g.17387475C>G | CA379772140 | KCNJ11 | c.356G>C (p.Arg119Pro) c.617G>C (p.Arg206Pro) n.775G>C | |
| 11 | g.17387475C>T | CA379772144 | KCNJ11 | c.356G>A (p.Arg119His) c.617G>A (p.Arg206His) n.775G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.17387476G>A | CA5902273 | KCNJ11 | c.355C>T (p.Arg119Cys) c.616C>T (p.Arg206Cys) n.774C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387476G>C | CA379772150 | KCNJ11 | c.355C>G (p.Arg119Gly) c.616C>G (p.Arg206Gly) n.774C>G | |
| 11 | g.17387476G= | CA1955119273 | KCNJ11 | c.355C= (p.Arg119=) c.616C= (p.Arg206=) n.774C= | |
| 11 | g.17387476G>T | CA379772156 | KCNJ11 | c.355C>A (p.Arg119Ser) c.616C>A (p.Arg206Ser) n.774C>A | |
| 11 | g.17387477G>A | CA473515687 | KCNJ11 | c.354C>T (p.Leu118=) c.615C>T (p.Leu205=) n.773C>T | ClinVar dbSNP |
| 11 | g.17387477G>C | CA473515689 | KCNJ11 | c.354C>G (p.Leu118=) c.615C>G (p.Leu205=) n.773C>G | |
| 11 | g.17387477G>T | CA473515688 | KCNJ11 | c.354C>A (p.Leu118=) c.615C>A (p.Leu205=) n.773C>A | |
| 11 | g.17387478A>C | CA379772157 | KCNJ11 | c.353T>G (p.Leu118Arg) c.614T>G (p.Leu205Arg) n.772T>G | |
| 11 | g.17387478A>G | CA379772158 | KCNJ11 | c.353T>C (p.Leu118Pro) c.614T>C (p.Leu205Pro) n.772T>C | |
| 11 | g.17387478A>T | CA379772160 | KCNJ11 | c.353T>A (p.Leu118His) c.614T>A (p.Leu205His) n.772T>A | |
| 11 | g.17387479G>A | CA379772173 | KCNJ11 | c.352C>T (p.Leu118Phe) c.613C>T (p.Leu205Phe) n.771C>T | ClinVar |
| 11 | g.17387479G>C | CA379772164 | KCNJ11 | c.352C>G (p.Leu118Val) c.613C>G (p.Leu205Val) n.771C>G | |
| 11 | g.17387479G>T | CA379772169 | KCNJ11 | c.352C>A (p.Leu118Ile) c.613C>A (p.Leu205Ile) n.771C>A | |
| 11 | g.17387479_17387480del | CA2612638825 | KCNJ11 | c.351_352del (p.Leu118ProfsTer?) c.612_613del (p.Leu205ProfsTer?) n.770_771del | gnomAD v4 |
| 11 | g.17387480G>A | CA473515690 | KCNJ11 | c.351C>T (p.Asp117=) c.612C>T (p.Asp204=) n.770C>T | |
| 11 | g.17387480G>C | CA379772178 | KCNJ11 | c.351C>G (p.Asp117Glu) c.612C>G (p.Asp204Glu) n.770C>G | |
| 11 | g.17387480G= | CA1955119274 | KCNJ11 | c.351C= (p.Asp117=) c.612C= (p.Asp204=) n.770C= | |
| 11 | g.17387480G>T | CA218399743 | KCNJ11 | c.351C>A (p.Asp117Glu) c.612C>A (p.Asp204Glu) n.770C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387481T>A | CA379772188 | KCNJ11 | c.350A>T (p.Asp117Val) c.611A>T (p.Asp204Val) n.769A>T | |
| 11 | g.17387481T>C | CA379772189 | KCNJ11 | c.350A>G (p.Asp117Gly) c.611A>G (p.Asp204Gly) n.769A>G | |
| 11 | g.17387481T>G | CA379772191 | KCNJ11 | c.350A>C (p.Asp117Ala) c.611A>C (p.Asp204Ala) n.769A>C | dbSNP |
| 11 | g.17387481T= | CA1955119275 | KCNJ11 | c.350A= (p.Asp117=) c.611A= (p.Asp204=) n.769A= | |
| 11 | g.17387482C>A | CA379772196 | KCNJ11 | c.349G>T (p.Asp117Tyr) c.610G>T (p.Asp204Tyr) n.768G>T | |
| 11 | g.17387482C>G | CA379772197 | KCNJ11 | c.349G>C (p.Asp117His) c.610G>C (p.Asp204His) n.768G>C | |
| 11 | g.17387482C>T | CA379772201 | KCNJ11 | c.349G>A (p.Asp117Asn) c.610G>A (p.Asp204Asn) n.768G>A | gnomAD v4 |
| 11 | g.17387483A>C | CA473515691 | KCNJ11 | c.348T>G (p.Gly116=) c.609T>G (p.Gly203=) n.767T>G | |
| 11 | g.17387483A>G | CA473515692 | KCNJ11 | c.348T>C (p.Gly116=) c.609T>C (p.Gly203=) n.767T>C | |
| 11 | g.17387483A>T | CA473515693 | KCNJ11 | c.348T>A (p.Gly116=) c.609T>A (p.Gly203=) n.767T>A | |
| 11 | g.17387484C>A | CA379772207 | KCNJ11 | c.347G>T (p.Gly116Val) c.608G>T (p.Gly203Val) n.766G>T | |
| 11 | g.17387484C>G | CA379772213 | KCNJ11 | c.347G>C (p.Gly116Ala) c.608G>C (p.Gly203Ala) n.766G>C | |
| 11 | g.17387484C>T | CA379772217 | KCNJ11 | c.347G>A (p.Gly116Asp) c.608G>A (p.Gly203Asp) n.766G>A | gnomAD v4 |
| 11 | g.17387485C>A | CA379772225 | KCNJ11 | c.346G>T (p.Gly116Cys) c.607G>T (p.Gly203Cys) n.765G>T | |
| 11 | g.17387485C>G | CA379772222 | KCNJ11 | c.346G>C (p.Gly116Arg) c.607G>C (p.Gly203Arg) n.765G>C |