Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63444666T>A | CA409654651 | KCNQ2 | c.683A>T (p.His228Leu) n.421A>T n.77A>T c.164A>T (p.His55Leu) c.341A>T (p.His114Leu) n.809A>T n.525A>T c.48A>T c.104A>T (p.His35Leu) n.508A>T c.614A>T (p.His205Leu) | |
20 | g.63444666T>C | CA409654652 | KCNQ2 | c.683A>G (p.His228Arg) n.421A>G n.77A>G c.164A>G (p.His55Arg) c.341A>G (p.His114Arg) n.809A>G n.525A>G c.48A>G c.104A>G (p.His35Arg) n.508A>G c.614A>G (p.His205Arg) | ClinVar dbSNP gnomAD v4 |
20 | g.63444666T>G | CA409654653 | KCNQ2 | c.683A>C (p.His228Pro) n.421A>C n.77A>C c.164A>C (p.His55Pro) c.341A>C (p.His114Pro) n.809A>C n.525A>C c.48A>C c.104A>C (p.His35Pro) n.508A>C c.614A>C (p.His205Pro) | |
20 | g.63444666T= | CA2374795850 | KCNQ2 | c.683A= (p.His228=) n.421A= n.77A= c.164A= (p.His55=) c.341A= (p.His114=) n.809A= n.525A= c.48A= c.104A= (p.His35=) n.508A= c.614A= (p.His205=) | |
20 | g.63444667G>A | CA409654654 | KCNQ2 | c.682C>T (p.His228Tyr) n.420C>T n.76C>T c.163C>T (p.His55Tyr) c.340C>T (p.His114Tyr) n.808C>T n.524C>T c.47C>T c.103C>T (p.His35Tyr) n.507C>T c.613C>T (p.His205Tyr) | ClinVar dbSNP gnomAD v4 |
20 | g.63444667G>C | CA409654656 | KCNQ2 | c.682C>G (p.His228Asp) n.420C>G n.76C>G c.163C>G (p.His55Asp) c.340C>G (p.His114Asp) n.808C>G n.524C>G c.47C>G c.103C>G (p.His35Asp) n.507C>G c.613C>G (p.His205Asp) | ClinVar |
20 | g.63444667G= | CA2374795854 | KCNQ2 | c.682C= (p.His228=) n.420C= n.76C= c.163C= (p.His55=) c.340C= (p.His114=) n.808C= n.524C= c.47C= c.103C= (p.His35=) n.507C= c.613C= (p.His205=) | |
20 | g.63444667G>T | CA409654655 | KCNQ2 | c.682C>A (p.His228Asn) n.420C>A n.76C>A c.163C>A (p.His55Asn) c.340C>A (p.His114Asn) n.808C>A n.524C>A c.47C>A c.103C>A (p.His35Asn) n.507C>A c.613C>A (p.His205Asn) | gnomAD v4 |
20 | g.63444668G>A | CA511211155 | KCNQ2 | c.681C>T (p.Ala227=) n.419C>T n.75C>T c.162C>T (p.Ala54=) c.339C>T (p.Ala113=) n.807C>T n.523C>T c.46C>T c.102C>T (p.Ala34=) n.506C>T c.612C>T (p.Ala204=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63444668G>C | CA511211159 | KCNQ2 | c.681C>G (p.Ala227=) n.419C>G n.75C>G c.162C>G (p.Ala54=) c.339C>G (p.Ala113=) n.807C>G n.523C>G c.46C>G c.102C>G (p.Ala34=) n.506C>G c.612C>G (p.Ala204=) | |
20 | g.63444668G= | CA2374795861 | KCNQ2 | c.681C= (p.Ala227=) n.419C= n.75C= c.162C= (p.Ala54=) c.339C= (p.Ala113=) n.807C= n.523C= c.46C= c.102C= (p.Ala34=) n.506C= c.612C= (p.Ala204=) | |
20 | g.63444668G>T | CA511211157 | KCNQ2 | c.681C>A (p.Ala227=) n.419C>A n.75C>A c.162C>A (p.Ala54=) c.339C>A (p.Ala113=) n.807C>A n.523C>A c.46C>A c.102C>A (p.Ala34=) n.506C>A c.612C>A (p.Ala204=) | dbSNP gnomAD v4 |
20 | g.63444669G>A | CA409654657 | KCNQ2 | c.680C>T (p.Ala227Val) n.418C>T n.74C>T c.161C>T (p.Ala54Val) c.338C>T (p.Ala113Val) n.806C>T n.522C>T c.45C>T c.101C>T (p.Ala34Val) n.505C>T c.611C>T (p.Ala204Val) | ClinVar dbSNP gnomAD v4 |
20 | g.63444669G>C | CA409654658 | KCNQ2 | c.680C>G (p.Ala227Gly) n.418C>G n.74C>G c.161C>G (p.Ala54Gly) c.338C>G (p.Ala113Gly) n.806C>G n.522C>G c.45C>G c.101C>G (p.Ala34Gly) n.505C>G c.611C>G (p.Ala204Gly) | |
20 | g.63444669G>T | CA409654659 | KCNQ2 | c.680C>A (p.Ala227Asp) n.418C>A n.74C>A c.161C>A (p.Ala54Asp) c.338C>A (p.Ala113Asp) n.806C>A n.522C>A c.45C>A c.101C>A (p.Ala34Asp) n.505C>A c.611C>A (p.Ala204Asp) | gnomAD v4 |
20 | g.63444670C>A | CA409654660 | KCNQ2 | c.679G>T (p.Ala227Ser) n.417G>T n.73G>T c.160G>T (p.Ala54Ser) c.337G>T (p.Ala113Ser) n.805G>T n.521G>T c.44G>T c.100G>T (p.Ala34Ser) n.504G>T c.610G>T (p.Ala204Ser) | gnomAD v4 |
20 | g.63444670C>G | CA409654661 | KCNQ2 | c.679G>C (p.Ala227Pro) n.417G>C n.73G>C c.160G>C (p.Ala54Pro) c.337G>C (p.Ala113Pro) n.805G>C n.521G>C c.44G>C c.100G>C (p.Ala34Pro) n.504G>C c.610G>C (p.Ala204Pro) | gnomAD v4 |
20 | g.63444670C>T | CA409654662 | KCNQ2 | c.679G>A (p.Ala227Thr) n.417G>A n.73G>A c.160G>A (p.Ala54Thr) c.337G>A (p.Ala113Thr) n.805G>A n.521G>A c.44G>A c.100G>A (p.Ala34Thr) n.504G>A c.610G>A (p.Ala204Thr) | gnomAD v4 |
20 | g.63444671A>C | CA409654663 | KCNQ2 | c.678T>G (p.Tyr226Ter) n.416T>G n.72T>G c.159T>G (p.Tyr53Ter) c.336T>G (p.Tyr112Ter) n.804T>G n.520T>G c.43T>G c.99T>G (p.Tyr33Ter) n.503T>G c.609T>G (p.Tyr203Ter) | |
20 | g.63444671A>G | CA511211166 | KCNQ2 | c.678T>C (p.Tyr226=) n.416T>C n.72T>C c.159T>C (p.Tyr53=) c.336T>C (p.Tyr112=) n.804T>C n.520T>C c.43T>C c.99T>C (p.Tyr33=) n.503T>C c.609T>C (p.Tyr203=) | |
20 | g.63444671A>T | CA409654664 | KCNQ2 | c.678T>A (p.Tyr226Ter) n.416T>A n.72T>A c.159T>A (p.Tyr53Ter) c.336T>A (p.Tyr112Ter) n.804T>A n.520T>A c.43T>A c.99T>A (p.Tyr33Ter) n.503T>A c.609T>A (p.Tyr203Ter) | |
20 | g.63444672_63444673dup | CA2695230089 | KCNQ2 | c.677_678dup (p.Ala227MetfsTer?) n.415_416dup n.71_72dup c.158_159dup (p.Ala54MetfsTer?) c.335_336dup (p.Ala113MetfsTer?) n.803_804dup n.519_520dup c.42_43dup c.98_99dup (p.Ala34MetfsTer?) n.502_503dup c.677_678dup (p.Ala227MetfsTer8) c.608_609dup (p.Ala204MetfsTer?) | |
20 | g.63444672T>A | CA409654665 | KCNQ2 | c.677A>T (p.Tyr226Phe) n.415A>T n.71A>T c.158A>T (p.Tyr53Phe) c.335A>T (p.Tyr112Phe) n.803A>T n.519A>T c.42A>T c.98A>T (p.Tyr33Phe) n.502A>T c.608A>T (p.Tyr203Phe) | |
20 | g.63444672T>C | CA317461722 | KCNQ2 | c.677A>G (p.Tyr226Cys) n.415A>G n.71A>G c.158A>G (p.Tyr53Cys) c.335A>G (p.Tyr112Cys) n.803A>G n.519A>G c.42A>G c.98A>G (p.Tyr33Cys) n.502A>G c.608A>G (p.Tyr203Cys) | dbSNP |
20 | g.63444672T>G | CA409654666 | KCNQ2 | c.677A>C (p.Tyr226Ser) n.415A>C n.71A>C c.158A>C (p.Tyr53Ser) c.335A>C (p.Tyr112Ser) n.803A>C n.519A>C c.42A>C c.98A>C (p.Tyr33Ser) n.502A>C c.608A>C (p.Tyr203Ser) | |
20 | g.63444672T= | CA2374795865 | KCNQ2 | c.677A= (p.Tyr226=) n.415A= n.71A= c.158A= (p.Tyr53=) c.335A= (p.Tyr112=) n.803A= n.519A= c.42A= c.98A= (p.Tyr33=) n.502A= c.608A= (p.Tyr203=) | |
20 | g.63444673A>C | CA409654668 | KCNQ2 | c.676T>G (p.Tyr226Asp) n.414T>G n.70T>G c.157T>G (p.Tyr53Asp) c.334T>G (p.Tyr112Asp) n.802T>G n.518T>G c.41T>G c.97T>G (p.Tyr33Asp) n.501T>G c.607T>G (p.Tyr203Asp) | |
20 | g.63444673A>G | CA409654669 | KCNQ2 | c.676T>C (p.Tyr226His) n.414T>C n.70T>C c.157T>C (p.Tyr53His) c.334T>C (p.Tyr112His) n.802T>C n.518T>C c.41T>C c.97T>C (p.Tyr33His) n.501T>C c.607T>C (p.Tyr203His) | gnomAD v4 |
20 | g.63444673A>T | CA409654667 | KCNQ2 | c.676T>A (p.Tyr226Asn) n.414T>A n.70T>A c.157T>A (p.Tyr53Asn) c.334T>A (p.Tyr112Asn) n.802T>A n.518T>A c.41T>A c.97T>A (p.Tyr33Asn) n.501T>A c.607T>A (p.Tyr203Asn) | |
20 | g.63444674G>A | CA511211175 | KCNQ2 | c.675C>T (p.Val225=) n.413C>T n.69C>T c.156C>T (p.Val52=) c.333C>T (p.Val111=) n.801C>T n.517C>T c.40C>T c.96C>T (p.Val32=) n.500C>T c.606C>T (p.Val202=) | |
20 | g.63444674G>C | CA511211176 | KCNQ2 | c.675C>G (p.Val225=) n.413C>G n.69C>G c.156C>G (p.Val52=) c.333C>G (p.Val111=) n.801C>G n.517C>G c.40C>G c.96C>G (p.Val32=) n.500C>G c.606C>G (p.Val202=) | COSMIC COSMIC COSMIC COSMIC |
20 | g.63444674G>T | CA511211178 | KCNQ2 | c.675C>A (p.Val225=) n.413C>A n.69C>A c.156C>A (p.Val52=) c.333C>A (p.Val111=) n.801C>A n.517C>A c.40C>A c.96C>A (p.Val32=) n.500C>A c.606C>A (p.Val202=) | gnomAD v4 |
20 | g.63444675A>C | CA409654672 | KCNQ2 | c.674T>G (p.Val225Gly) n.412T>G n.68T>G c.155T>G (p.Val52Gly) c.332T>G (p.Val111Gly) n.800T>G n.516T>G c.39T>G c.95T>G (p.Val32Gly) n.499T>G c.605T>G (p.Val202Gly) | |
20 | g.63444675A>G | CA409654670 | KCNQ2 | c.674T>C (p.Val225Ala) n.412T>C n.68T>C c.155T>C (p.Val52Ala) c.332T>C (p.Val111Ala) n.800T>C n.516T>C c.39T>C c.95T>C (p.Val32Ala) n.499T>C c.605T>C (p.Val202Ala) | gnomAD v4 |
20 | g.63444675A>T | CA409654671 | KCNQ2 | c.674T>A (p.Val225Asp) n.412T>A n.68T>A c.155T>A (p.Val52Asp) c.332T>A (p.Val111Asp) n.800T>A n.516T>A c.39T>A c.95T>A (p.Val32Asp) n.499T>A c.605T>A (p.Val202Asp) | |
20 | g.63444676C>A | CA409654673 | KCNQ2 | c.673G>T (p.Val225Phe) n.411G>T n.67G>T c.154G>T (p.Val52Phe) c.331G>T (p.Val111Phe) n.799G>T n.515G>T c.38G>T c.94G>T (p.Val32Phe) n.498G>T c.604G>T (p.Val202Phe) | ClinVar |
20 | g.63444676C>G | CA409654674 | KCNQ2 | c.673G>C (p.Val225Leu) n.411G>C n.67G>C c.154G>C (p.Val52Leu) c.331G>C (p.Val111Leu) n.799G>C n.515G>C c.38G>C c.94G>C (p.Val32Leu) n.498G>C c.604G>C (p.Val202Leu) | |
20 | g.63444676C>T | CA409654675 | KCNQ2 | c.673G>A (p.Val225Ile) n.411G>A n.67G>A c.154G>A (p.Val52Ile) c.331G>A (p.Val111Ile) n.799G>A n.515G>A c.38G>A c.94G>A (p.Val32Ile) n.498G>A c.604G>A (p.Val202Ile) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63444677C>A | CA511211183 | KCNQ2 | c.672G>T (p.Val224=) n.410G>T n.66G>T c.153G>T (p.Val51=) c.330G>T (p.Val110=) n.798G>T n.514G>T c.37G>T c.93G>T (p.Val31=) n.497G>T c.603G>T (p.Val201=) | gnomAD v4 |
20 | g.63444677C>G | CA511211184 | KCNQ2 | c.672G>C (p.Val224=) n.410G>C n.66G>C c.153G>C (p.Val51=) c.330G>C (p.Val110=) n.798G>C n.514G>C c.37G>C c.93G>C (p.Val31=) n.497G>C c.603G>C (p.Val201=) | |
20 | g.63444677C>T | CA511211186 | KCNQ2 | c.672G>A (p.Val224=) n.410G>A n.66G>A c.153G>A (p.Val51=) c.330G>A (p.Val110=) n.798G>A n.514G>A c.37G>A c.93G>A (p.Val31=) n.497G>A c.603G>A (p.Val201=) | |
20 | g.63444678A= | CA2374795866 | KCNQ2 | c.671T= (p.Val224=) n.409T= n.65T= c.152T= (p.Val51=) c.329T= (p.Val110=) n.797T= n.513T= c.36T= c.92T= (p.Val31=) n.496T= c.602T= (p.Val201=) | |
20 | g.63444678A>C | CA409654677 | KCNQ2 | c.671T>G (p.Val224Gly) n.409T>G n.65T>G c.152T>G (p.Val51Gly) c.329T>G (p.Val110Gly) n.797T>G n.513T>G c.36T>G c.92T>G (p.Val31Gly) n.496T>G c.602T>G (p.Val201Gly) | |
20 | g.63444678A>G | CA315374 | KCNQ2 | c.671T>C (p.Val224Ala) n.409T>C n.65T>C c.152T>C (p.Val51Ala) c.329T>C (p.Val110Ala) n.797T>C n.513T>C c.36T>C c.92T>C (p.Val31Ala) n.496T>C c.602T>C (p.Val201Ala) | dbSNP gnomAD v4 |
20 | g.63444678A>T | CA409654676 | KCNQ2 | c.671T>A (p.Val224Glu) n.409T>A n.65T>A c.152T>A (p.Val51Glu) c.329T>A (p.Val110Glu) n.797T>A n.513T>A c.36T>A c.92T>A (p.Val31Glu) n.496T>A c.602T>A (p.Val201Glu) | |
20 | g.63444679C>A | CA409654678 | KCNQ2 | c.670G>T (p.Val224Leu) n.408G>T n.64G>T c.151G>T (p.Val51Leu) c.328G>T (p.Val110Leu) n.796G>T n.512G>T c.35G>T c.91G>T (p.Val31Leu) n.495G>T c.601G>T (p.Val201Leu) | gnomAD v4 |
20 | g.63444679C>G | CA409654679 | KCNQ2 | c.670G>C (p.Val224Leu) n.408G>C n.64G>C c.151G>C (p.Val51Leu) c.328G>C (p.Val110Leu) n.796G>C n.512G>C c.35G>C c.91G>C (p.Val31Leu) n.495G>C c.601G>C (p.Val201Leu) | ClinVar dbSNP |
20 | g.63444679C>T | CA409654680 | KCNQ2 | c.670G>A (p.Val224Met) n.408G>A n.64G>A c.151G>A (p.Val51Met) c.328G>A (p.Val110Met) n.796G>A n.512G>A c.35G>A c.91G>A (p.Val31Met) n.495G>A c.601G>A (p.Val201Met) | gnomAD v4 |
20 | g.63444680A>C | CA511211192 | KCNQ2 | c.669T>G (p.Ser223=) n.407T>G n.63T>G c.150T>G (p.Ser50=) c.327T>G (p.Ser109=) n.795T>G n.511T>G c.34T>G c.90T>G (p.Ser30=) n.494T>G c.600T>G (p.Ser200=) | |
20 | g.63444680A>G | CA511211195 | KCNQ2 | c.669T>C (p.Ser223=) n.407T>C n.63T>C c.150T>C (p.Ser50=) c.327T>C (p.Ser109=) n.795T>C n.511T>C c.34T>C c.90T>C (p.Ser30=) n.494T>C c.600T>C (p.Ser200=) | |
20 | g.63444680A>T | CA511211193 | KCNQ2 | c.669T>A (p.Ser223=) n.407T>A n.63T>A c.150T>A (p.Ser50=) c.327T>A (p.Ser109=) n.795T>A n.511T>A c.34T>A c.90T>A (p.Ser30=) n.494T>A c.600T>A (p.Ser200=) | |
20 | g.63444682_63444683del | CA915952279 | KCNQ2 | c.668_669del (p.Ser223CysfsTer?) n.406_407del n.62_63del c.149_150del (p.Ser50CysfsTer?) c.326_327del (p.Ser109CysfsTer?) n.794_795del n.510_511del c.33_34del c.89_90del (p.Ser30CysfsTer?) n.493_494del c.599_600del (p.Ser200CysfsTer?) | ClinVar |
20 | g.63444681G>A | CA409654681 | KCNQ2 | c.668C>T (p.Ser223Phe) n.406C>T n.62C>T c.149C>T (p.Ser50Phe) c.326C>T (p.Ser109Phe) n.794C>T n.510C>T c.33C>T c.89C>T (p.Ser30Phe) n.493C>T c.599C>T (p.Ser200Phe) | ClinVar dbSNP gnomAD v4 |
20 | g.63444681G>C | CA409654682 | KCNQ2 | c.668C>G (p.Ser223Cys) n.406C>G n.62C>G c.149C>G (p.Ser50Cys) c.326C>G (p.Ser109Cys) n.794C>G n.510C>G c.33C>G c.89C>G (p.Ser30Cys) n.493C>G c.599C>G (p.Ser200Cys) | |
20 | g.63444681G>T | CA409654683 | KCNQ2 | c.668C>A (p.Ser223Tyr) n.406C>A n.62C>A c.149C>A (p.Ser50Tyr) c.326C>A (p.Ser109Tyr) n.794C>A n.510C>A c.33C>A c.89C>A (p.Ser30Tyr) n.493C>A c.599C>A (p.Ser200Tyr) | |
20 | g.63444682A= | CA2374795867 | KCNQ2 | c.667T= (p.Ser223=) n.405T= n.61T= c.148T= (p.Ser50=) c.325T= (p.Ser109=) n.793T= n.509T= c.32T= c.88T= (p.Ser30=) n.492T= c.598T= (p.Ser200=) | |
20 | g.63444682A>C | CA409654684 | KCNQ2 | c.667T>G (p.Ser223Ala) n.405T>G n.61T>G c.148T>G (p.Ser50Ala) c.325T>G (p.Ser109Ala) n.793T>G n.509T>G c.32T>G c.88T>G (p.Ser30Ala) n.492T>G c.598T>G (p.Ser200Ala) | |
20 | g.63444682A>G | CA409654686 | KCNQ2 | c.667T>C (p.Ser223Pro) n.405T>C n.61T>C c.148T>C (p.Ser50Pro) c.325T>C (p.Ser109Pro) n.793T>C n.509T>C c.32T>C c.88T>C (p.Ser30Pro) n.492T>C c.598T>C (p.Ser200Pro) | ClinVar dbSNP |
20 | g.63444682A>T | CA409654685 | KCNQ2 | c.667T>A (p.Ser223Thr) n.405T>A n.61T>A c.148T>A (p.Ser50Thr) c.325T>A (p.Ser109Thr) n.793T>A n.509T>A c.32T>A c.88T>A (p.Ser30Thr) n.492T>A c.598T>A (p.Ser200Thr) | |
20 | g.63444683G>A | CA511211201 | KCNQ2 | c.666C>T (p.Gly222=) n.404C>T n.60C>T c.147C>T (p.Gly49=) c.324C>T (p.Gly108=) n.792C>T n.508C>T c.31C>T c.87C>T (p.Gly29=) n.491C>T c.597C>T (p.Gly199=) | dbSNP gnomAD v4 |
20 | g.63444683G>C | CA511211203 | KCNQ2 | c.666C>G (p.Gly222=) n.404C>G n.60C>G c.147C>G (p.Gly49=) c.324C>G (p.Gly108=) n.792C>G n.508C>G c.31C>G c.87C>G (p.Gly29=) n.491C>G c.597C>G (p.Gly199=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63444683G= | CA2374795868 | KCNQ2 | c.666C= (p.Gly222=) n.404C= n.60C= c.147C= (p.Gly49=) c.324C= (p.Gly108=) n.792C= n.508C= c.31C= c.87C= (p.Gly29=) n.491C= c.597C= (p.Gly199=) | |
20 | g.63444683G>T | CA511211205 | KCNQ2 | c.666C>A (p.Gly222=) n.404C>A n.60C>A c.147C>A (p.Gly49=) c.324C>A (p.Gly108=) n.792C>A n.508C>A c.31C>A c.87C>A (p.Gly29=) n.491C>A c.597C>A (p.Gly199=) | |
20 | g.63444684C>A | CA409654687 | KCNQ2 | c.665G>T (p.Gly222Val) n.403G>T n.59G>T c.146G>T (p.Gly49Val) c.323G>T (p.Gly108Val) n.791G>T n.507G>T c.30G>T c.86G>T (p.Gly29Val) n.490G>T c.596G>T (p.Gly199Val) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
20 | g.63444684C>G | CA409654688 | KCNQ2 | c.665G>C (p.Gly222Ala) n.403G>C n.59G>C c.146G>C (p.Gly49Ala) c.323G>C (p.Gly108Ala) n.791G>C n.507G>C c.30G>C c.86G>C (p.Gly29Ala) n.490G>C c.596G>C (p.Gly199Ala) | |
20 | g.63444684C>T | CA409654689 | KCNQ2 | c.665G>A (p.Gly222Asp) n.403G>A n.59G>A c.146G>A (p.Gly49Asp) c.323G>A (p.Gly108Asp) n.791G>A n.507G>A c.30G>A c.86G>A (p.Gly29Asp) n.490G>A c.596G>A (p.Gly199Asp) | ClinVar dbSNP |
20 | g.63444685C>A | CA409654690 | KCNQ2 | c.664G>T (p.Gly222Cys) n.402G>T n.58G>T c.145G>T (p.Gly49Cys) c.322G>T (p.Gly108Cys) n.790G>T n.506G>T c.29G>T c.85G>T (p.Gly29Cys) n.489G>T c.595G>T (p.Gly199Cys) | |
20 | g.63444685C>G | CA409654691 | KCNQ2 | c.664G>C (p.Gly222Arg) n.402G>C n.58G>C c.145G>C (p.Gly49Arg) c.322G>C (p.Gly108Arg) n.790G>C n.506G>C c.29G>C c.85G>C (p.Gly29Arg) n.489G>C c.595G>C (p.Gly199Arg) | |
20 | g.63444685C>T | CA409654692 | KCNQ2 | c.664G>A (p.Gly222Ser) n.402G>A n.58G>A c.145G>A (p.Gly49Ser) c.322G>A (p.Gly108Ser) n.790G>A n.506G>A c.29G>A c.85G>A (p.Gly29Ser) n.489G>A c.595G>A (p.Gly199Ser) | |
20 | g.63444686C>A | CA511211211 | KCNQ2 | c.663G>T (p.Leu221=) n.401G>T n.57G>T c.144G>T (p.Leu48=) c.321G>T (p.Leu107=) n.789G>T n.505G>T c.28G>T c.84G>T (p.Leu28=) n.488G>T c.594G>T (p.Leu198=) | |
20 | g.63444686C>G | CA511211212 | KCNQ2 | c.663G>C (p.Leu221=) n.401G>C n.57G>C c.144G>C (p.Leu48=) c.321G>C (p.Leu107=) n.789G>C n.505G>C c.28G>C c.84G>C (p.Leu28=) n.488G>C c.594G>C (p.Leu198=) | |
20 | g.63444686C>T | CA511211214 | KCNQ2 | c.663G>A (p.Leu221=) n.401G>A n.57G>A c.144G>A (p.Leu48=) c.321G>A (p.Leu107=) n.789G>A n.505G>A c.28G>A c.84G>A (p.Leu28=) n.488G>A c.594G>A (p.Leu198=) | gnomAD v4 |
20 | g.63444687A>C | CA409654693 | KCNQ2 | c.662T>G (p.Leu221Arg) n.400T>G n.56T>G c.143T>G (p.Leu48Arg) c.320T>G (p.Leu107Arg) n.788T>G n.504T>G c.27T>G c.83T>G (p.Leu28Arg) n.487T>G c.593T>G (p.Leu198Arg) | |
20 | g.63444687A>G | CA409654694 | KCNQ2 | c.662T>C (p.Leu221Pro) n.400T>C n.56T>C c.143T>C (p.Leu48Pro) c.320T>C (p.Leu107Pro) n.788T>C n.504T>C c.27T>C c.83T>C (p.Leu28Pro) n.487T>C c.593T>C (p.Leu198Pro) | |
20 | g.63444687A>T | CA409654695 | KCNQ2 | c.662T>A (p.Leu221Gln) n.400T>A n.56T>A c.143T>A (p.Leu48Gln) c.320T>A (p.Leu107Gln) n.788T>A n.504T>A c.27T>A c.83T>A (p.Leu28Gln) n.487T>A c.593T>A (p.Leu198Gln) | |
20 | g.63444688G>A | CA511211219 | KCNQ2 | c.661C>T (p.Leu221=) n.399C>T n.55C>T c.142C>T (p.Leu48=) c.319C>T (p.Leu107=) n.787C>T n.503C>T c.26C>T c.82C>T (p.Leu28=) n.486C>T c.592C>T (p.Leu198=) | gnomAD v4 |
20 | g.63444688G>C | CA409654696 | KCNQ2 | c.661C>G (p.Leu221Val) n.399C>G n.55C>G c.142C>G (p.Leu48Val) c.319C>G (p.Leu107Val) n.787C>G n.503C>G c.26C>G c.82C>G (p.Leu28Val) n.486C>G c.592C>G (p.Leu198Val) | |
20 | g.63444688G>T | CA409654697 | KCNQ2 | c.661C>A (p.Leu221Met) n.399C>A n.55C>A c.142C>A (p.Leu48Met) c.319C>A (p.Leu107Met) n.787C>A n.503C>A c.26C>A c.82C>A (p.Leu28Met) n.486C>A c.592C>A (p.Leu198Met) | |
20 | g.63444689C>A | CA511211225 | KCNQ2 | c.660G>T (p.Leu220=) n.398G>T n.54G>T c.141G>T (p.Leu47=) c.318G>T (p.Leu106=) n.786G>T n.502G>T c.25G>T c.81G>T (p.Leu27=) n.485G>T c.591G>T (p.Leu197=) | ClinVar gnomAD v4 |
20 | g.63444689C>G | CA511211226 | KCNQ2 | c.660G>C (p.Leu220=) n.398G>C n.54G>C c.141G>C (p.Leu47=) c.318G>C (p.Leu106=) n.786G>C n.502G>C c.25G>C c.81G>C (p.Leu27=) n.485G>C c.591G>C (p.Leu197=) | |
20 | g.63444689C>T | CA511211223 | KCNQ2 | c.660G>A (p.Leu220=) n.398G>A n.54G>A c.141G>A (p.Leu47=) c.318G>A (p.Leu106=) n.786G>A n.502G>A c.25G>A c.81G>A (p.Leu27=) n.485G>A c.591G>A (p.Leu197=) | gnomAD v4 |
20 | g.63444690A>C | CA409654700 | KCNQ2 | c.659T>G (p.Leu220Arg) n.397T>G n.53T>G c.140T>G (p.Leu47Arg) c.317T>G (p.Leu106Arg) n.785T>G n.501T>G c.24T>G c.80T>G (p.Leu27Arg) n.484T>G c.590T>G (p.Leu197Arg) | |
20 | g.63444690A>G | CA409654699 | KCNQ2 | c.659T>C (p.Leu220Pro) n.397T>C n.53T>C c.140T>C (p.Leu47Pro) c.317T>C (p.Leu106Pro) n.785T>C n.501T>C c.24T>C c.80T>C (p.Leu27Pro) n.484T>C c.590T>C (p.Leu197Pro) | |
20 | g.63444690A>T | CA409654698 | KCNQ2 | c.659T>A (p.Leu220Gln) n.397T>A n.53T>A c.140T>A (p.Leu47Gln) c.317T>A (p.Leu106Gln) n.785T>A n.501T>A c.24T>A c.80T>A (p.Leu27Gln) n.484T>A c.590T>A (p.Leu197Gln) | |
20 | g.63444691G>A | CA511211231 | KCNQ2 | c.658C>T (p.Leu220=) n.396C>T n.52C>T c.139C>T (p.Leu47=) c.316C>T (p.Leu106=) n.784C>T n.500C>T c.23C>T c.79C>T (p.Leu27=) n.483C>T c.589C>T (p.Leu197=) | gnomAD v4 |
20 | g.63444691G>C | CA409654701 | KCNQ2 | c.658C>G (p.Leu220Val) n.396C>G n.52C>G c.139C>G (p.Leu47Val) c.316C>G (p.Leu106Val) n.784C>G n.500C>G c.23C>G c.79C>G (p.Leu27Val) n.483C>G c.589C>G (p.Leu197Val) | |
20 | g.63444691G>T | CA409654702 | KCNQ2 | c.658C>A (p.Leu220Met) n.396C>A n.52C>A c.139C>A (p.Leu47Met) c.316C>A (p.Leu106Met) n.784C>A n.500C>A c.23C>A c.79C>A (p.Leu27Met) n.483C>A c.589C>A (p.Leu197Met) | ClinVar |
20 | g.63444692C>A | CA409654703 | KCNQ2 | c.657G>T (p.Lys219Asn) n.395G>T n.51G>T c.138G>T (p.Lys46Asn) c.315G>T (p.Lys105Asn) n.783G>T n.499G>T c.22G>T c.78G>T (p.Lys26Asn) n.482G>T c.588G>T (p.Lys196Asn) | gnomAD v4 |
20 | g.63444692C= | CA2374795869 | KCNQ2 | c.657G= (p.Lys219=) n.395G= n.51G= c.138G= (p.Lys46=) c.315G= (p.Lys105=) n.783G= n.499G= c.22G= c.78G= (p.Lys26=) n.482G= c.588G= (p.Lys196=) | |
20 | g.63444692C>G | CA16608025 | KCNQ2 | c.657G>C (p.Lys219Asn) n.395G>C n.51G>C c.138G>C (p.Lys46Asn) c.315G>C (p.Lys105Asn) n.783G>C n.499G>C c.22G>C c.78G>C (p.Lys26Asn) n.482G>C c.588G>C (p.Lys196Asn) | ClinVar dbSNP |
20 | g.63444692C>T | CA9958770 | KCNQ2 | c.657G>A (p.Lys219=) n.395G>A n.51G>A c.138G>A (p.Lys46=) c.315G>A (p.Lys105=) n.783G>A n.499G>A c.22G>A c.78G>A (p.Lys26=) n.482G>A c.588G>A (p.Lys196=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63444693T>A | CA409654704 | KCNQ2 | c.656A>T (p.Lys219Met) n.394A>T n.50A>T c.137A>T (p.Lys46Met) c.314A>T (p.Lys105Met) n.782A>T n.498A>T c.21A>T c.77A>T (p.Lys26Met) n.481A>T c.587A>T (p.Lys196Met) | |
20 | g.63444693T>C | CA409654705 | KCNQ2 | c.656A>G (p.Lys219Arg) n.394A>G n.50A>G c.137A>G (p.Lys46Arg) c.314A>G (p.Lys105Arg) n.782A>G n.498A>G c.21A>G c.77A>G (p.Lys26Arg) n.481A>G c.587A>G (p.Lys196Arg) | |
20 | g.63444693T>G | CA409654706 | KCNQ2 | c.656A>C (p.Lys219Thr) n.394A>C n.50A>C c.137A>C (p.Lys46Thr) c.314A>C (p.Lys105Thr) n.782A>C n.498A>C c.21A>C c.77A>C (p.Lys26Thr) n.481A>C c.587A>C (p.Lys196Thr) | |
20 | g.63444694dup | CA2838969325 | KCNQ2 | c.656dup (p.Leu220AlafsTer?) n.394dup n.50dup c.137dup (p.Leu47AlafsTer?) c.314dup (p.Leu106AlafsTer?) n.782dup n.498dup c.21dup c.77dup (p.Leu27AlafsTer?) n.481dup c.587dup (p.Leu197AlafsTer?) | |
20 | g.63444694T>A | CA409654707 | KCNQ2 | c.655A>T (p.Lys219Ter) n.393A>T n.49A>T c.136A>T (p.Lys46Ter) c.313A>T (p.Lys105Ter) n.781A>T n.497A>T c.20A>T c.76A>T (p.Lys26Ter) n.480A>T c.586A>T (p.Lys196Ter) | |
20 | g.63444694T>C | CA409654708 | KCNQ2 | c.655A>G (p.Lys219Glu) n.393A>G n.49A>G c.136A>G (p.Lys46Glu) c.313A>G (p.Lys105Glu) n.781A>G n.497A>G c.20A>G c.76A>G (p.Lys26Glu) n.480A>G c.586A>G (p.Lys196Glu) | ClinVar |
20 | g.63444694T>G | CA409654709 | KCNQ2 | c.655A>C (p.Lys219Gln) n.393A>C n.49A>C c.136A>C (p.Lys46Gln) c.313A>C (p.Lys105Gln) n.781A>C n.497A>C c.20A>C c.76A>C (p.Lys26Gln) n.480A>C c.586A>C (p.Lys196Gln) | |
20 | g.63444695C>A | CA409654710 | KCNQ2 | c.654G>T (p.Trp218Cys) n.392G>T n.48G>T c.135G>T (p.Trp45Cys) c.312G>T (p.Trp104Cys) n.780G>T n.496G>T c.19G>T c.75G>T (p.Trp25Cys) n.479G>T c.585G>T (p.Trp195Cys) | |
20 | g.63444695C= | CA2374795871 | KCNQ2 | c.654G= (p.Trp218=) n.392G= n.48G= c.135G= (p.Trp45=) c.312G= (p.Trp104=) n.780G= n.496G= c.19G= c.75G= (p.Trp25=) n.479G= c.585G= (p.Trp195=) | |
20 | g.63444695C>G | CA409654711 | KCNQ2 | c.654G>C (p.Trp218Cys) n.392G>C n.48G>C c.135G>C (p.Trp45Cys) c.312G>C (p.Trp104Cys) n.780G>C n.496G>C c.19G>C c.75G>C (p.Trp25Cys) n.479G>C c.585G>C (p.Trp195Cys) | |
20 | g.63444695C>T | CA409654712 | KCNQ2 | c.654G>A (p.Trp218Ter) n.392G>A n.48G>A c.135G>A (p.Trp45Ter) c.312G>A (p.Trp104Ter) n.780G>A n.496G>A c.19G>A c.75G>A (p.Trp25Ter) n.479G>A c.585G>A (p.Trp195Ter) | ClinVar dbSNP |
20 | g.63444696dup | CA2739277238 | KCNQ2 | c.654dup (p.Lys219GlufsTer?) n.392dup n.48dup c.135dup (p.Lys46GlufsTer?) c.312dup (p.Lys105GlufsTer?) n.780dup n.496dup c.19dup c.75dup (p.Lys26GlufsTer?) n.479dup c.585dup (p.Lys196GlufsTer?) | ClinVar |
20 | g.63444696C>A | CA409654715 | KCNQ2 | c.653G>T (p.Trp218Leu) n.391G>T n.47G>T c.134G>T (p.Trp45Leu) c.311G>T (p.Trp104Leu) n.779G>T n.495G>T c.18G>T c.74G>T (p.Trp25Leu) n.478G>T c.584G>T (p.Trp195Leu) | |
20 | g.63444696C>G | CA409654714 | KCNQ2 | c.653G>C (p.Trp218Ser) n.391G>C n.47G>C c.134G>C (p.Trp45Ser) c.311G>C (p.Trp104Ser) n.779G>C n.495G>C c.18G>C c.74G>C (p.Trp25Ser) n.478G>C c.584G>C (p.Trp195Ser) | |
20 | g.63444696C>T | CA409654713 | KCNQ2 | c.653G>A (p.Trp218Ter) n.391G>A n.47G>A c.134G>A (p.Trp45Ter) c.311G>A (p.Trp104Ter) n.779G>A n.495G>A c.18G>A c.74G>A (p.Trp25Ter) n.478G>A c.584G>A (p.Trp195Ter) | ClinVar dbSNP gnomAD v4 |
20 | g.63444697A= | CA2374795875 | KCNQ2 | c.652T= (p.Trp218=) n.390T= n.46T= c.133T= (p.Trp45=) c.310T= (p.Trp104=) n.778T= n.494T= c.17T= c.73T= (p.Trp25=) n.477T= c.583T= (p.Trp195=) | |
20 | g.63444697A>C | CA409654716 | KCNQ2 | c.652T>G (p.Trp218Gly) n.390T>G n.46T>G c.133T>G (p.Trp45Gly) c.310T>G (p.Trp104Gly) n.778T>G n.494T>G c.17T>G c.73T>G (p.Trp25Gly) n.477T>G c.583T>G (p.Trp195Gly) | |
20 | g.63444697A>G | CA317461759 | KCNQ2 | c.652T>C (p.Trp218Arg) n.390T>C n.46T>C c.133T>C (p.Trp45Arg) c.310T>C (p.Trp104Arg) n.778T>C n.494T>C c.17T>C c.73T>C (p.Trp25Arg) n.477T>C c.583T>C (p.Trp195Arg) | ClinVar dbSNP gnomAD v4 |
20 | g.63444697A>T | CA409654717 | KCNQ2 | c.652T>A (p.Trp218Arg) n.390T>A n.46T>A c.133T>A (p.Trp45Arg) c.310T>A (p.Trp104Arg) n.778T>A n.494T>A c.17T>A c.73T>A (p.Trp25Arg) n.477T>A c.583T>A (p.Trp195Arg) | ClinVar dbSNP |
20 | g.63444698G>A | CA511211250 | KCNQ2 | c.651C>T (p.Thr217=) n.389C>T n.45C>T c.132C>T (p.Thr44=) c.309C>T (p.Thr103=) n.777C>T n.493C>T c.16C>T c.72C>T (p.Thr24=) n.476C>T c.582C>T (p.Thr194=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63444698G>C | CA511211252 | KCNQ2 | c.651C>G (p.Thr217=) n.389C>G n.45C>G c.132C>G (p.Thr44=) c.309C>G (p.Thr103=) n.777C>G n.493C>G c.16C>G c.72C>G (p.Thr24=) n.476C>G c.582C>G (p.Thr194=) | |
20 | g.63444698G= | CA2374795882 | KCNQ2 | c.651C= (p.Thr217=) n.389C= n.45C= c.132C= (p.Thr44=) c.309C= (p.Thr103=) n.777C= n.493C= c.16C= c.72C= (p.Thr24=) n.476C= c.582C= (p.Thr194=) | |
20 | g.63444698G>T | CA511211253 | KCNQ2 | c.651C>A (p.Thr217=) n.389C>A n.45C>A c.132C>A (p.Thr44=) c.309C>A (p.Thr103=) n.777C>A n.493C>A c.16C>A c.72C>A (p.Thr24=) n.476C>A c.582C>A (p.Thr194=) | |
20 | g.63444698_63444700delinsGGT | CA2374795884 | KCNQ2 | c.649_651delinsACC (p.Thr217=) n.387_389delinsACC n.43_45delinsACC c.130_132delinsACC (p.Thr44=) c.307_309delinsACC (p.Thr103=) n.775_777delinsACC n.491_493delinsACC c.14_16delinsACC c.70_72delinsACC (p.Thr24=) n.474_476delinsACC c.580_582delinsACC (p.Thr194=) | |
20 | g.63444699G>A | CA409654718 | KCNQ2 | c.650C>T (p.Thr217Ile) n.388C>T n.44C>T c.131C>T (p.Thr44Ile) c.308C>T (p.Thr103Ile) n.776C>T n.492C>T c.15C>T c.71C>T (p.Thr24Ile) n.475C>T c.581C>T (p.Thr194Ile) | ClinVar |
20 | g.63444699G>C | CA409654719 | KCNQ2 | c.650C>G (p.Thr217Ser) n.388C>G n.44C>G c.131C>G (p.Thr44Ser) c.308C>G (p.Thr103Ser) n.776C>G n.492C>G c.15C>G c.71C>G (p.Thr24Ser) n.475C>G c.581C>G (p.Thr194Ser) | |
20 | g.63444699G= | CA2374795894 | KCNQ2 | c.650C= (p.Thr217=) n.388C= n.44C= c.131C= (p.Thr44=) c.308C= (p.Thr103=) n.776C= n.492C= c.15C= c.71C= (p.Thr24=) n.475C= c.581C= (p.Thr194=) | |
20 | g.63444699G>T | CA10654821 | KCNQ2 | c.650C>A (p.Thr217Asn) n.388C>A n.44C>A c.131C>A (p.Thr44Asn) c.308C>A (p.Thr103Asn) n.776C>A n.492C>A c.15C>A c.71C>A (p.Thr24Asn) n.475C>A c.581C>A (p.Thr194Asn) | ClinVar dbSNP gnomAD v4 |
20 | g.63444700_63444701del | CA1139666801 | KCNQ2 | c.649_650del (p.Thr217LeufsTer?) n.387_388del n.43_44del c.130_131del (p.Thr44LeufsTer?) c.307_308del (p.Thr103LeufsTer?) n.775_776del n.491_492del c.14_15del c.70_71del (p.Thr24LeufsTer?) n.474_475del c.580_581del (p.Thr194LeufsTer?) | ClinVar dbSNP |
20 | g.63444700T>A | CA409654720 | KCNQ2 | c.649A>T (p.Thr217Ser) n.387A>T n.43A>T c.130A>T (p.Thr44Ser) c.307A>T (p.Thr103Ser) n.775A>T n.491A>T c.14A>T c.70A>T (p.Thr24Ser) n.474A>T c.580A>T (p.Thr194Ser) | |
20 | g.63444700T>C | CA10654822 | KCNQ2 | c.649A>G (p.Thr217Ala) n.387A>G n.43A>G c.130A>G (p.Thr44Ala) c.307A>G (p.Thr103Ala) n.775A>G n.491A>G c.14A>G c.70A>G (p.Thr24Ala) n.474A>G c.580A>G (p.Thr194Ala) | ClinVar dbSNP |
20 | g.63444700T>G | CA409654721 | KCNQ2 | c.649A>C (p.Thr217Pro) n.387A>C n.43A>C c.130A>C (p.Thr44Pro) c.307A>C (p.Thr103Pro) n.775A>C n.491A>C c.14A>C c.70A>C (p.Thr24Pro) n.474A>C c.580A>C (p.Thr194Pro) | ClinVar dbSNP |
20 | g.63444700T= | CA2374795903 | KCNQ2 | c.649A= (p.Thr217=) n.387A= n.43A= c.130A= (p.Thr44=) c.307A= (p.Thr103=) n.775A= n.491A= c.14A= c.70A= (p.Thr24=) n.474A= c.580A= (p.Thr194=) | |
20 | g.63444701G>A | CA511211261 | KCNQ2 | c.648C>T (p.Gly216=) n.386C>T n.42C>T c.129C>T (p.Gly43=) c.306C>T (p.Gly102=) n.774C>T n.490C>T c.13C>T c.69C>T (p.Gly23=) n.473C>T c.579C>T (p.Gly193=) | gnomAD v4 |
20 | g.63444701G>C | CA511211263 | KCNQ2 | c.648C>G (p.Gly216=) n.386C>G n.42C>G c.129C>G (p.Gly43=) c.306C>G (p.Gly102=) n.774C>G n.490C>G c.13C>G c.69C>G (p.Gly23=) n.473C>G c.579C>G (p.Gly193=) | dbSNP |
20 | g.63444701G>T | CA511211265 | KCNQ2 | c.648C>A (p.Gly216=) n.386C>A n.42C>A c.129C>A (p.Gly43=) c.306C>A (p.Gly102=) n.774C>A n.490C>A c.13C>A c.69C>A (p.Gly23=) n.473C>A c.579C>A (p.Gly193=) | dbSNP |
20 | g.63444702C>A | CA409654722 | KCNQ2 | c.647G>T (p.Gly216Val) n.385G>T n.41G>T c.128G>T (p.Gly43Val) c.305G>T (p.Gly102Val) n.773G>T n.489G>T c.12G>T c.68G>T (p.Gly23Val) n.472G>T c.578G>T (p.Gly193Val) | ClinVar gnomAD v4 |
20 | g.63444702C>G | CA409654723 | KCNQ2 | c.647G>C (p.Gly216Ala) n.385G>C n.41G>C c.128G>C (p.Gly43Ala) c.305G>C (p.Gly102Ala) n.773G>C n.489G>C c.12G>C c.68G>C (p.Gly23Ala) n.472G>C c.578G>C (p.Gly193Ala) | |
20 | g.63444702C>T | CA409654724 | KCNQ2 | c.647G>A (p.Gly216Asp) n.385G>A n.41G>A c.128G>A (p.Gly43Asp) c.305G>A (p.Gly102Asp) n.773G>A n.489G>A c.12G>A c.68G>A (p.Gly23Asp) n.472G>A c.578G>A (p.Gly193Asp) | gnomAD v4 |
20 | g.63444703dup | CA2842951552 | KCNQ2 | c.647dup (p.Thr217HisfsTer?) n.385dup n.41dup c.128dup (p.Thr44HisfsTer?) c.305dup (p.Thr103HisfsTer?) n.773dup n.489dup c.12dup c.68dup (p.Thr24HisfsTer?) n.472dup c.578dup (p.Thr194HisfsTer?) | |
20 | g.63444703C>A | CA409654725 | KCNQ2 | c.646G>T (p.Gly216Cys) n.384G>T n.40G>T c.127G>T (p.Gly43Cys) c.304G>T (p.Gly102Cys) n.772G>T n.488G>T c.11G>T c.67G>T (p.Gly23Cys) n.471G>T c.577G>T (p.Gly193Cys) | gnomAD v4 |
20 | g.63444703C>G | CA409654727 | KCNQ2 | c.646G>C (p.Gly216Arg) n.384G>C n.40G>C c.127G>C (p.Gly43Arg) c.304G>C (p.Gly102Arg) n.772G>C n.488G>C c.11G>C c.67G>C (p.Gly23Arg) n.471G>C c.577G>C (p.Gly193Arg) | |
20 | g.63444703C>T | CA409654726 | KCNQ2 | c.646G>A (p.Gly216Ser) n.384G>A n.40G>A c.127G>A (p.Gly43Ser) c.304G>A (p.Gly102Ser) n.772G>A n.488G>A c.11G>A c.67G>A (p.Gly23Ser) n.471G>A c.577G>A (p.Gly193Ser) | |
20 | g.63444704T>A | CA511211273 | KCNQ2 | c.645A>T (p.Gly215=) n.383A>T n.39A>T c.126A>T (p.Gly42=) c.303A>T (p.Gly101=) n.771A>T n.487A>T c.10A>T c.66A>T (p.Gly22=) n.470A>T c.576A>T (p.Gly192=) | dbSNP |
20 | g.63444704T>C | CA317461796 | KCNQ2 | c.645A>G (p.Gly215=) n.383A>G n.39A>G c.126A>G (p.Gly42=) c.303A>G (p.Gly101=) n.771A>G n.487A>G c.10A>G c.66A>G (p.Gly22=) n.470A>G c.576A>G (p.Gly192=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63444704T>G | CA511211276 | KCNQ2 | c.645A>C (p.Gly215=) n.383A>C n.39A>C c.126A>C (p.Gly42=) c.303A>C (p.Gly101=) n.771A>C n.487A>C c.10A>C c.66A>C (p.Gly22=) n.470A>C c.576A>C (p.Gly192=) | |
20 | g.63444704T= | CA2374795910 | KCNQ2 | c.645A= (p.Gly215=) n.383A= n.39A= c.126A= (p.Gly42=) c.303A= (p.Gly101=) n.771A= n.487A= c.10A= c.66A= (p.Gly22=) n.470A= c.576A= (p.Gly192=) | |
20 | g.63444705C>A | CA409654728 | KCNQ2 | c.644G>T (p.Gly215Val) n.382G>T n.38G>T c.125G>T (p.Gly42Val) c.302G>T (p.Gly101Val) n.770G>T n.486G>T c.9G>T c.65G>T (p.Gly22Val) n.469G>T c.575G>T (p.Gly192Val) | |
20 | g.63444705C>G | CA409654730 | KCNQ2 | c.644G>C (p.Gly215Ala) n.382G>C n.38G>C c.125G>C (p.Gly42Ala) c.302G>C (p.Gly101Ala) n.770G>C n.486G>C c.9G>C c.65G>C (p.Gly22Ala) n.469G>C c.575G>C (p.Gly192Ala) | |
20 | g.63444705C>T | CA409654729 | KCNQ2 | c.644G>A (p.Gly215Glu) n.382G>A n.38G>A c.125G>A (p.Gly42Glu) c.302G>A (p.Gly101Glu) n.770G>A n.486G>A c.9G>A c.65G>A (p.Gly22Glu) n.469G>A c.575G>A (p.Gly192Glu) | |
20 | g.63444708del | CA2573157296 | KCNQ2 | c.644del (p.Gly215GlufsTer?) n.382del n.38del c.125del (p.Gly42GlufsTer?) c.302del (p.Gly101GlufsTer?) n.770del n.486del c.9del c.65del (p.Gly22GlufsTer?) n.469del c.644del (p.Gly215GlufsTer19) c.575del (p.Gly192GlufsTer?) | ClinVar dbSNP gnomAD v4 |
20 | g.63444706C>A | CA409654731 | KCNQ2 | c.643G>T (p.Gly215Ter) n.381G>T n.37G>T c.124G>T (p.Gly42Ter) c.301G>T (p.Gly101Ter) n.769G>T n.485G>T c.8G>T c.64G>T (p.Gly22Ter) n.468G>T c.574G>T (p.Gly192Ter) | gnomAD v4 |
20 | g.63444706C= | CA2374795919 | KCNQ2 | c.643G= (p.Gly215=) n.381G= n.37G= c.124G= (p.Gly42=) c.301G= (p.Gly101=) n.769G= n.485G= c.8G= c.64G= (p.Gly22=) n.468G= c.574G= (p.Gly192=) | |
20 | g.63444706C>G | CA409654732 | KCNQ2 | c.643G>C (p.Gly215Arg) n.381G>C n.37G>C c.124G>C (p.Gly42Arg) c.301G>C (p.Gly101Arg) n.769G>C n.485G>C c.8G>C c.64G>C (p.Gly22Arg) n.468G>C c.574G>C (p.Gly192Arg) | |
20 | g.63444706C>T | CA10654823 | KCNQ2 | c.643G>A (p.Gly215Arg) n.381G>A n.37G>A c.124G>A (p.Gly42Arg) c.301G>A (p.Gly101Arg) n.769G>A n.485G>A c.8G>A c.64G>A (p.Gly22Arg) n.468G>A c.574G>A (p.Gly192Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
20 | g.63444707C>A | CA511211283 | KCNQ2 | c.642G>T (p.Arg214=) n.380G>T n.36G>T c.123G>T (p.Arg41=) c.300G>T (p.Arg100=) n.768G>T n.484G>T c.7G>T c.63G>T (p.Arg21=) n.467G>T c.573G>T (p.Arg191=) | gnomAD v4 |
20 | g.63444707C= | CA2374795929 | KCNQ2 | c.642G= (p.Arg214=) n.380G= n.36G= c.123G= (p.Arg41=) c.300G= (p.Arg100=) n.768G= n.484G= c.7G= c.63G= (p.Arg21=) n.467G= c.573G= (p.Arg191=) | |
20 | g.63444707C>G | CA511211285 | KCNQ2 | c.642G>C (p.Arg214=) n.380G>C n.36G>C c.123G>C (p.Arg41=) c.300G>C (p.Arg100=) n.768G>C n.484G>C c.7G>C c.63G>C (p.Arg21=) n.467G>C c.573G>C (p.Arg191=) | gnomAD v4 |
20 | g.63444707C>T | CA9958771 | KCNQ2 | c.642G>A (p.Arg214=) n.380G>A n.36G>A c.123G>A (p.Arg41=) c.300G>A (p.Arg100=) n.768G>A n.484G>A c.7G>A c.63G>A (p.Arg21=) n.467G>A c.573G>A (p.Arg191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63444708C>A | CA409654733 | KCNQ2 | c.641G>T (p.Arg214Leu) n.379G>T n.35G>T c.122G>T (p.Arg41Leu) c.299G>T (p.Arg100Leu) n.767G>T n.483G>T c.6G>T c.62G>T (p.Arg21Leu) n.466G>T c.572G>T (p.Arg191Leu) | gnomAD v4 |
20 | g.63444708C= | CA2374795935 | KCNQ2 | c.641G= (p.Arg214=) n.379G= n.35G= c.122G= (p.Arg41=) c.299G= (p.Arg100=) n.767G= n.483G= c.6G= c.62G= (p.Arg21=) n.466G= c.572G= (p.Arg191=) | |
20 | g.63444708C>G | CA16043158 | KCNQ2 | c.641G>C (p.Arg214Pro) n.379G>C n.35G>C c.122G>C (p.Arg41Pro) c.299G>C (p.Arg100Pro) n.767G>C n.483G>C c.6G>C c.62G>C (p.Arg21Pro) n.466G>C c.572G>C (p.Arg191Pro) | ClinVar dbSNP |
20 | g.63444708C>T | CA409654734 | KCNQ2 | c.641G>A (p.Arg214Gln) n.379G>A n.35G>A c.122G>A (p.Arg41Gln) c.299G>A (p.Arg100Gln) n.767G>A n.483G>A c.6G>A c.62G>A (p.Arg21Gln) n.466G>A c.572G>A (p.Arg191Gln) | ClinVar dbSNP gnomAD v4 |
20 | g.63444709G>A | CA245495 | KCNQ2 | c.640C>T (p.Arg214Trp) n.378C>T n.34C>T c.121C>T (p.Arg41Trp) c.298C>T (p.Arg100Trp) n.766C>T n.482C>T c.5C>T c.61C>T (p.Arg21Trp) n.465C>T c.571C>T (p.Arg191Trp) | ClinVar dbSNP gnomAD v4 |
20 | g.63444709G>C | CA409654735 | KCNQ2 | c.640C>G (p.Arg214Gly) n.378C>G n.34C>G c.121C>G (p.Arg41Gly) c.298C>G (p.Arg100Gly) n.766C>G n.482C>G c.5C>G c.61C>G (p.Arg21Gly) n.465C>G c.571C>G (p.Arg191Gly) | |
20 | g.63444709G= | CA2374795940 | KCNQ2 | c.640C= (p.Arg214=) n.378C= n.34C= c.121C= (p.Arg41=) c.298C= (p.Arg100=) n.766C= n.482C= c.5C= c.61C= (p.Arg21=) n.465C= c.571C= (p.Arg191=) | |
20 | g.63444709G>T | CA511211293 | KCNQ2 | c.640C>A (p.Arg214=) n.378C>A n.34C>A c.121C>A (p.Arg41=) c.298C>A (p.Arg100=) n.766C>A n.482C>A c.5C>A c.61C>A (p.Arg21=) n.465C>A c.571C>A (p.Arg191=) | gnomAD v4 |
20 | g.63444710C>A | CA511211295 | KCNQ2 | c.639G>T (p.Arg213=) n.377G>T n.33G>T c.120G>T (p.Arg40=) c.297G>T (p.Arg99=) n.765G>T n.481G>T c.4G>T c.60G>T (p.Arg20=) n.464G>T c.570G>T (p.Arg190=) | gnomAD v4 |
20 | g.63444710C= | CA2374795944 | KCNQ2 | c.639G= (p.Arg213=) n.377G= n.33G= c.120G= (p.Arg40=) c.297G= (p.Arg99=) n.765G= n.481G= c.4G= c.60G= (p.Arg20=) n.464G= c.570G= (p.Arg190=) | |
20 | g.63444710C>G | CA511211299 | KCNQ2 | c.639G>C (p.Arg213=) n.377G>C n.33G>C c.120G>C (p.Arg40=) c.297G>C (p.Arg99=) n.765G>C n.481G>C c.4G>C c.60G>C (p.Arg20=) n.464G>C c.570G>C (p.Arg190=) | gnomAD v4 |
20 | g.63444710C>T | CA511211297 | KCNQ2 | c.639G>A (p.Arg213=) n.377G>A n.33G>A c.120G>A (p.Arg40=) c.297G>A (p.Arg99=) n.765G>A n.481G>A c.4G>A c.60G>A (p.Arg20=) n.464G>A c.570G>A (p.Arg190=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63444711C>A | CA409654736 | KCNQ2 | c.638G>T (p.Arg213Leu) n.376G>T n.32G>T c.119G>T (p.Arg40Leu) c.296G>T (p.Arg99Leu) n.764G>T n.480G>T c.3G>T c.59G>T (p.Arg20Leu) n.463G>T c.569G>T (p.Arg190Leu) | ClinVar dbSNP gnomAD v4 |
20 | g.63444711C= | CA2374795948 | KCNQ2 | c.638G= (p.Arg213=) n.376G= n.32G= c.119G= (p.Arg40=) c.296G= (p.Arg99=) n.764G= n.480G= c.3G= c.59G= (p.Arg20=) n.463G= c.569G= (p.Arg190=) | |
20 | g.63444711C>G | CA409654737 | KCNQ2 | c.638G>C (p.Arg213Pro) n.376G>C n.32G>C c.119G>C (p.Arg40Pro) c.296G>C (p.Arg99Pro) n.764G>C n.480G>C c.3G>C c.59G>C (p.Arg20Pro) n.463G>C c.569G>C (p.Arg190Pro) | |
20 | g.63444711C>T | CA130528 | KCNQ2 | c.638G>A (p.Arg213Gln) n.376G>A n.32G>A c.119G>A (p.Arg40Gln) c.296G>A (p.Arg99Gln) n.764G>A n.480G>A c.3G>A c.59G>A (p.Arg20Gln) n.463G>A c.569G>A (p.Arg190Gln) | ClinVar dbSNP gnomAD v4 |
20 | g.63444712G>A | CA202848 | KCNQ2 | c.637C>T (p.Arg213Trp) n.375C>T n.31C>T c.118C>T (p.Arg40Trp) c.295C>T (p.Arg99Trp) n.763C>T n.479C>T c.2C>T c.58C>T (p.Arg20Trp) n.462C>T c.568C>T (p.Arg190Trp) | ClinVar dbSNP gnomAD v4 |
20 | g.63444712G>C | CA409654738 | KCNQ2 | c.637C>G (p.Arg213Gly) n.375C>G n.31C>G c.118C>G (p.Arg40Gly) c.295C>G (p.Arg99Gly) n.763C>G n.479C>G c.2C>G c.58C>G (p.Arg20Gly) n.462C>G c.568C>G (p.Arg190Gly) | |
20 | g.63444712G= | CA2374795951 | KCNQ2 | c.637C= (p.Arg213=) n.375C= n.31C= c.118C= (p.Arg40=) c.295C= (p.Arg99=) n.763C= n.479C= c.2C= c.58C= (p.Arg20=) n.462C= c.568C= (p.Arg190=) | |
20 | g.63444712G>T | CA511211303 | KCNQ2 | c.637C>A (p.Arg213=) n.375C>A n.31C>A c.118C>A (p.Arg40=) c.295C>A (p.Arg99=) n.763C>A n.479C>A c.2C>A c.58C>A (p.Arg20=) n.462C>A c.568C>A (p.Arg190=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63444713G>A | CA511211305 | KCNQ2 | c.636C>T (p.Asp212=) n.374C>T n.30C>T c.117C>T (p.Asp39=) c.294C>T (p.Asp98=) n.762C>T n.478C>T c.1C>T c.57C>T (p.Asp19=) n.461C>T c.567C>T (p.Asp189=) | gnomAD v4 |
20 | g.63444713G>C | CA409654739 | KCNQ2 | c.636C>G (p.Asp212Glu) n.374C>G n.30C>G c.117C>G (p.Asp39Glu) c.294C>G (p.Asp98Glu) n.762C>G n.478C>G c.1C>G c.57C>G (p.Asp19Glu) n.461C>G c.567C>G (p.Asp189Glu) | |
20 | g.63444713G= | CA2374795957 | KCNQ2 | c.636C= (p.Asp212=) n.374C= n.30C= c.117C= (p.Asp39=) c.294C= (p.Asp98=) n.762C= n.478C= c.1C= c.57C= (p.Asp19=) n.461C= c.567C= (p.Asp189=) | |
20 | g.63444713G>T | CA315372 | KCNQ2 | c.636C>A (p.Asp212Glu) n.374C>A n.30C>A c.117C>A (p.Asp39Glu) c.294C>A (p.Asp98Glu) n.762C>A n.478C>A c.1C>A c.57C>A (p.Asp19Glu) n.461C>A c.567C>A (p.Asp189Glu) | ClinVar dbSNP |
20 | g.63444714T>A | CA16620975 | KCNQ2 | c.635A>T (p.Asp212Val) n.373A>T n.29A>T c.116A>T (p.Asp39Val) c.293A>T (p.Asp98Val) n.761A>T n.477A>T c.56A>T (p.Asp19Val) n.460A>T c.566A>T (p.Asp189Val) | ClinVar dbSNP |
20 | g.63444714T>C | CA342517 | KCNQ2 | c.635A>G (p.Asp212Gly) n.373A>G n.29A>G c.116A>G (p.Asp39Gly) c.293A>G (p.Asp98Gly) n.761A>G n.477A>G c.56A>G (p.Asp19Gly) n.460A>G c.566A>G (p.Asp189Gly) | ClinVar dbSNP gnomAD v4 |
20 | g.63444714T>G | CA409654740 | KCNQ2 | c.635A>C (p.Asp212Ala) n.373A>C n.29A>C c.116A>C (p.Asp39Ala) c.293A>C (p.Asp98Ala) n.761A>C n.477A>C c.56A>C (p.Asp19Ala) n.460A>C c.566A>C (p.Asp189Ala) | ClinVar dbSNP |
20 | g.63444714T= | CA2374795962 | KCNQ2 | c.635A= (p.Asp212=) n.373A= n.29A= c.116A= (p.Asp39=) c.293A= (p.Asp98=) n.761A= n.477A= c.56A= (p.Asp19=) n.460A= c.566A= (p.Asp189=) | |
20 | g.63444715C>A | CA409654743 | KCNQ2 | c.634G>T (p.Asp212Tyr) n.372G>T n.28G>T c.115G>T (p.Asp39Tyr) c.292G>T (p.Asp98Tyr) n.760G>T n.476G>T c.55G>T (p.Asp19Tyr) n.459G>T c.565G>T (p.Asp189Tyr) | ClinVar gnomAD v4 |
20 | g.63444715C>G | CA409654742 | KCNQ2 | c.634G>C (p.Asp212His) n.372G>C n.28G>C c.115G>C (p.Asp39His) c.292G>C (p.Asp98His) n.760G>C n.476G>C c.55G>C (p.Asp19His) n.459G>C c.565G>C (p.Asp189His) | |
20 | g.63444715C>T | CA409654741 | KCNQ2 | c.634G>A (p.Asp212Asn) n.372G>A n.28G>A c.115G>A (p.Asp39Asn) c.292G>A (p.Asp98Asn) n.760G>A n.476G>A c.55G>A (p.Asp19Asn) n.459G>A c.565G>A (p.Asp189Asn) | ClinVar |
20 | g.63444716dup | CA2580098390 | KCNQ2 | c.634dup (p.Asp212GlyfsTer?) n.372dup n.28dup c.115dup (p.Asp39GlyfsTer?) c.292dup (p.Asp98GlyfsTer?) n.760dup n.476dup c.55dup (p.Asp19GlyfsTer?) n.459dup c.565dup (p.Asp189GlyfsTer?) | ClinVar |
20 | g.63444716C>A | CA409654744 | KCNQ2 | c.633G>T (p.Met211Ile) n.371G>T n.27G>T c.114G>T (p.Met38Ile) c.291G>T (p.Met97Ile) n.759G>T n.475G>T c.54G>T (p.Met18Ile) n.458G>T c.564G>T (p.Met188Ile) | gnomAD v4 |
20 | g.63444716C>G | CA409654745 | KCNQ2 | c.633G>C (p.Met211Ile) n.371G>C n.27G>C c.114G>C (p.Met38Ile) c.291G>C (p.Met97Ile) n.759G>C n.475G>C c.54G>C (p.Met18Ile) n.458G>C c.564G>C (p.Met188Ile) | |
20 | g.63444716C>T | CA409654746 | KCNQ2 | c.633G>A (p.Met211Ile) n.371G>A n.27G>A c.114G>A (p.Met38Ile) c.291G>A (p.Met97Ile) n.759G>A n.475G>A c.54G>A (p.Met18Ile) n.458G>A c.564G>A (p.Met188Ile) | gnomAD v4 |
20 | g.63444717A>C | CA409654747 | KCNQ2 | c.632T>G (p.Met211Arg) n.370T>G n.26T>G c.113T>G (p.Met38Arg) c.290T>G (p.Met97Arg) n.758T>G n.474T>G c.53T>G (p.Met18Arg) n.457T>G c.563T>G (p.Met188Arg) | |
20 | g.63444717A>G | CA409654748 | KCNQ2 | c.632T>C (p.Met211Thr) n.370T>C n.26T>C c.113T>C (p.Met38Thr) c.290T>C (p.Met97Thr) n.758T>C n.474T>C c.53T>C (p.Met18Thr) n.457T>C c.563T>C (p.Met188Thr) | |
20 | g.63444717A>T | CA409654749 | KCNQ2 | c.632T>A (p.Met211Lys) n.370T>A n.26T>A c.113T>A (p.Met38Lys) c.290T>A (p.Met97Lys) n.758T>A n.474T>A c.53T>A (p.Met18Lys) n.457T>A c.563T>A (p.Met188Lys) | |
20 | g.63444718T>A | CA409654751 | KCNQ2 | c.631A>T (p.Met211Leu) n.369A>T n.25A>T c.112A>T (p.Met38Leu) c.289A>T (p.Met97Leu) n.757A>T n.473A>T c.52A>T (p.Met18Leu) n.456A>T c.562A>T (p.Met188Leu) | |
20 | g.63444718T>C | CA16608425 | KCNQ2 | c.631A>G (p.Met211Val) n.369A>G n.25A>G c.112A>G (p.Met38Val) c.289A>G (p.Met97Val) n.757A>G n.473A>G c.52A>G (p.Met18Val) n.456A>G c.562A>G (p.Met188Val) | ClinVar dbSNP gnomAD v4 |
20 | g.63444718T>G | CA409654750 | KCNQ2 | c.631A>C (p.Met211Leu) n.369A>C n.25A>C c.112A>C (p.Met38Leu) c.289A>C (p.Met97Leu) n.757A>C n.473A>C c.52A>C (p.Met18Leu) n.456A>C c.562A>C (p.Met188Leu) | |
20 | g.63444718T= | CA2374795975 | KCNQ2 | c.631A= (p.Met211=) n.369A= n.25A= c.112A= (p.Met38=) c.289A= (p.Met97=) n.757A= n.473A= c.52A= (p.Met18=) n.456A= c.562A= (p.Met188=) | |
20 | g.63444719G>A | CA511211321 | KCNQ2 | c.630C>T (p.Arg210=) n.368C>T n.24C>T c.111C>T (p.Arg37=) c.288C>T (p.Arg96=) n.756C>T n.472C>T c.51C>T (p.Arg17=) n.455C>T c.561C>T (p.Arg187=) | |
20 | g.63444719G>C | CA511211322 | KCNQ2 | c.630C>G (p.Arg210=) n.368C>G n.24C>G c.111C>G (p.Arg37=) c.288C>G (p.Arg96=) n.756C>G n.472C>G c.51C>G (p.Arg17=) n.455C>G c.561C>G (p.Arg187=) | |
20 | g.63444719G= | CA2374795976 | KCNQ2 | c.630C= (p.Arg210=) n.368C= n.24C= c.111C= (p.Arg37=) c.288C= (p.Arg96=) n.756C= n.472C= c.51C= (p.Arg17=) n.455C= c.561C= (p.Arg187=) | |
20 | g.63444719G>T | CA511211324 | KCNQ2 | c.630C>A (p.Arg210=) n.368C>A n.24C>A c.111C>A (p.Arg37=) c.288C>A (p.Arg96=) n.756C>A n.472C>A c.51C>A (p.Arg17=) n.455C>A c.561C>A (p.Arg187=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63444720C>A | CA409654752 | KCNQ2 | c.629G>T (p.Arg210Leu) n.367G>T n.23G>T c.110G>T (p.Arg37Leu) c.287G>T (p.Arg96Leu) n.755G>T n.471G>T c.50G>T (p.Arg17Leu) n.454G>T c.560G>T (p.Arg187Leu) | ClinVar gnomAD v4 |
20 | g.63444720C= | CA2374795986 | KCNQ2 | c.629G= (p.Arg210=) n.367G= n.23G= c.110G= (p.Arg37=) c.287G= (p.Arg96=) n.755G= n.471G= c.50G= (p.Arg17=) n.454G= c.560G= (p.Arg187=) | |
20 | g.63444720C>G | CA10603678 | KCNQ2 | c.629G>C (p.Arg210Pro) n.367G>C n.23G>C c.110G>C (p.Arg37Pro) c.287G>C (p.Arg96Pro) n.755G>C n.471G>C c.50G>C (p.Arg17Pro) n.454G>C c.560G>C (p.Arg187Pro) | ClinVar dbSNP |
20 | g.63444720C>T | CA10603489 | KCNQ2 | c.629G>A (p.Arg210His) n.367G>A n.23G>A c.110G>A (p.Arg37His) c.287G>A (p.Arg96His) n.755G>A n.471G>A c.50G>A (p.Arg17His) n.454G>A c.560G>A (p.Arg187His) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
20 | g.63444721G>A | CA315370 | KCNQ2 | c.628C>T (p.Arg210Cys) n.366C>T n.22C>T c.109C>T (p.Arg37Cys) c.286C>T (p.Arg96Cys) n.754C>T n.470C>T c.49C>T (p.Arg17Cys) n.453C>T c.559C>T (p.Arg187Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
20 | g.63444721G>C | CA409654753 | KCNQ2 | c.628C>G (p.Arg210Gly) n.366C>G n.22C>G c.109C>G (p.Arg37Gly) c.286C>G (p.Arg96Gly) n.754C>G n.470C>G c.49C>G (p.Arg17Gly) n.453C>G c.559C>G (p.Arg187Gly) | gnomAD v4 |
20 | g.63444721G= | CA2374795996 | KCNQ2 | c.628C= (p.Arg210=) n.366C= n.22C= c.109C= (p.Arg37=) c.286C= (p.Arg96=) n.754C= n.470C= c.49C= (p.Arg17=) n.453C= c.559C= (p.Arg187=) | |
20 | g.63444721G>T | CA409654754 | KCNQ2 | c.628C>A (p.Arg210Ser) n.366C>A n.22C>A c.109C>A (p.Arg37Ser) c.286C>A (p.Arg96Ser) n.754C>A n.470C>A c.49C>A (p.Arg17Ser) n.453C>A c.559C>A (p.Arg187Ser) | gnomAD v4 |
20 | g.63444722G>A | CA511211332 | KCNQ2 | c.627C>T (p.Ile209=) n.365C>T n.21C>T c.108C>T (p.Ile36=) c.285C>T (p.Ile95=) n.753C>T n.469C>T c.48C>T (p.Ile16=) n.452C>T c.558C>T (p.Ile186=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63444722G>C | CA409654755 | KCNQ2 | c.627C>G (p.Ile209Met) n.365C>G n.21C>G c.108C>G (p.Ile36Met) c.285C>G (p.Ile95Met) n.753C>G n.469C>G c.48C>G (p.Ile16Met) n.452C>G c.558C>G (p.Ile186Met) | gnomAD v4 |
20 | g.63444722G= | CA2374796003 | KCNQ2 | c.627C= (p.Ile209=) n.365C= n.21C= c.108C= (p.Ile36=) c.285C= (p.Ile95=) n.753C= n.469C= c.48C= (p.Ile16=) n.452C= c.558C= (p.Ile186=) | |
20 | g.63444722G>T | CA9958772 | KCNQ2 | c.627C>A (p.Ile209=) n.365C>A n.21C>A c.108C>A (p.Ile36=) c.285C>A (p.Ile95=) n.753C>A n.469C>A c.48C>A (p.Ile16=) n.452C>A c.558C>A (p.Ile186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63444723A= | CA2374796008 | KCNQ2 | c.626T= (p.Ile209=) n.364T= n.20T= c.107T= (p.Ile36=) c.284T= (p.Ile95=) n.752T= n.468T= c.47T= (p.Ile16=) n.451T= c.557T= (p.Ile186=) | |
20 | g.63444723A>C | CA409654756 | KCNQ2 | c.626T>G (p.Ile209Ser) n.364T>G n.20T>G c.107T>G (p.Ile36Ser) c.284T>G (p.Ile95Ser) n.752T>G n.468T>G c.47T>G (p.Ile16Ser) n.451T>G c.557T>G (p.Ile186Ser) | ClinVar dbSNP |
20 | g.63444723A>G | CA409654757 | KCNQ2 | c.626T>C (p.Ile209Thr) n.364T>C n.20T>C c.107T>C (p.Ile36Thr) c.284T>C (p.Ile95Thr) n.752T>C n.468T>C c.47T>C (p.Ile16Thr) n.451T>C c.557T>C (p.Ile186Thr) | ClinVar dbSNP |
20 | g.63444723A>T | CA409654758 | KCNQ2 | c.626T>A (p.Ile209Asn) n.364T>A n.20T>A c.107T>A (p.Ile36Asn) c.284T>A (p.Ile95Asn) n.752T>A n.468T>A c.47T>A (p.Ile16Asn) n.451T>A c.557T>A (p.Ile186Asn) | |
20 | g.63444724T>A | CA409654759 | KCNQ2 | c.625A>T (p.Ile209Phe) n.363A>T n.19A>T c.106A>T (p.Ile36Phe) c.283A>T (p.Ile95Phe) n.751A>T n.467A>T c.46A>T (p.Ile16Phe) n.450A>T c.556A>T (p.Ile186Phe) | |
20 | g.63444724T>C | CA409654760 | KCNQ2 | c.625A>G (p.Ile209Val) n.363A>G n.19A>G c.106A>G (p.Ile36Val) c.283A>G (p.Ile95Val) n.751A>G n.467A>G c.46A>G (p.Ile16Val) n.450A>G c.556A>G (p.Ile186Val) | gnomAD v4 |
20 | g.63444724T>G | CA409654761 | KCNQ2 | c.625A>C (p.Ile209Leu) n.363A>C n.19A>C c.106A>C (p.Ile36Leu) c.283A>C (p.Ile95Leu) n.751A>C n.467A>C c.46A>C (p.Ile16Leu) n.450A>C c.556A>C (p.Ile186Leu) | |
20 | g.63444724_63444725delinsTC | CA2374796014 | KCNQ2 | c.624_625delinsGA (p.Met208=) n.362_363delinsGA n.18_19delinsGA c.105_106delinsGA (p.Met35=) c.282_283delinsGA (p.Met94=) n.750_751delinsGA n.466_467delinsGA c.45_46delinsGA (p.Met15=) n.449_450delinsGA c.555_556delinsGA (p.Met185=) | |
20 | g.63444725del | CA10588705 | KCNQ2 | c.624del (p.Met208IlefsTer?) n.362del n.18del c.105del (p.Met35IlefsTer?) c.282del (p.Met94IlefsTer?) n.750del n.466del c.45del (p.Met15IlefsTer?) n.449del c.624del (p.Met208IlefsTer26) c.555del (p.Met185IlefsTer?) | ClinVar dbSNP |
20 | g.63444725C>A | CA409654764 | KCNQ2 | c.624G>T (p.Met208Ile) n.362G>T n.18G>T c.105G>T (p.Met35Ile) c.282G>T (p.Met94Ile) n.750G>T n.466G>T c.45G>T (p.Met15Ile) n.449G>T c.555G>T (p.Met185Ile) | |
20 | g.63444725C>G | CA409654762 | KCNQ2 | c.624G>C (p.Met208Ile) n.362G>C n.18G>C c.105G>C (p.Met35Ile) c.282G>C (p.Met94Ile) n.750G>C n.466G>C c.45G>C (p.Met15Ile) n.449G>C c.555G>C (p.Met185Ile) | gnomAD v4 |
20 | g.63444725C>T | CA409654763 | KCNQ2 | c.624G>A (p.Met208Ile) n.362G>A n.18G>A c.105G>A (p.Met35Ile) c.282G>A (p.Met94Ile) n.750G>A n.466G>A c.45G>A (p.Met15Ile) n.449G>A c.555G>A (p.Met185Ile) | gnomAD v4 |
20 | g.63444726A>C | CA409654765 | KCNQ2 | c.623T>G (p.Met208Arg) n.361T>G n.17T>G c.104T>G (p.Met35Arg) c.281T>G (p.Met94Arg) n.749T>G n.465T>G c.44T>G (p.Met15Arg) n.448T>G c.554T>G (p.Met185Arg) | |
20 | g.63444726A>G | CA409654766 | KCNQ2 | c.623T>C (p.Met208Thr) n.361T>C n.17T>C c.104T>C (p.Met35Thr) c.281T>C (p.Met94Thr) n.749T>C n.465T>C c.44T>C (p.Met15Thr) n.448T>C c.554T>C (p.Met185Thr) | |
20 | g.63444726A>T | CA409654767 | KCNQ2 | c.623T>A (p.Met208Lys) n.361T>A n.17T>A c.104T>A (p.Met35Lys) c.281T>A (p.Met94Lys) n.749T>A n.465T>A c.44T>A (p.Met15Lys) n.448T>A c.554T>A (p.Met185Lys) | |
20 | g.63444727T>A | CA409654768 | KCNQ2 | c.622A>T (p.Met208Leu) n.360A>T n.16A>T c.103A>T (p.Met35Leu) c.280A>T (p.Met94Leu) n.748A>T n.464A>T c.43A>T (p.Met15Leu) n.447A>T c.553A>T (p.Met185Leu) | |
20 | g.63444727T>C | CA342516 | KCNQ2 | c.622A>G (p.Met208Val) n.360A>G n.16A>G c.103A>G (p.Met35Val) c.280A>G (p.Met94Val) n.748A>G n.464A>G c.43A>G (p.Met15Val) n.447A>G c.553A>G (p.Met185Val) | ClinVar dbSNP gnomAD v4 |
20 | g.63444727T>G | CA409654769 | KCNQ2 | c.622A>C (p.Met208Leu) n.360A>C n.16A>C c.103A>C (p.Met35Leu) c.280A>C (p.Met94Leu) n.748A>C n.464A>C c.43A>C (p.Met15Leu) n.447A>C c.553A>C (p.Met185Leu) | |
20 | g.63444727T= | CA2374796028 | KCNQ2 | c.622A= (p.Met208=) n.360A= n.16A= c.103A= (p.Met35=) c.280A= (p.Met94=) n.748A= n.464A= c.43A= (p.Met15=) n.447A= c.553A= (p.Met185=) | |
20 | g.63444728C>A | CA511211350 | KCNQ2 | c.621G>T (p.Arg207=) n.359G>T n.15G>T c.102G>T (p.Arg34=) c.279G>T (p.Arg93=) n.747G>T n.463G>T c.42G>T (p.Arg14=) n.446G>T c.552G>T (p.Arg184=) | gnomAD v4 |
20 | g.63444728C>G | CA511211352 | KCNQ2 | c.621G>C (p.Arg207=) n.359G>C n.15G>C c.102G>C (p.Arg34=) c.279G>C (p.Arg93=) n.747G>C n.463G>C c.42G>C (p.Arg14=) n.446G>C c.552G>C (p.Arg184=) | |
20 | g.63444728C>T | CA511211353 | KCNQ2 | c.621G>A (p.Arg207=) n.359G>A n.15G>A c.102G>A (p.Arg34=) c.279G>A (p.Arg93=) n.747G>A n.463G>A c.42G>A (p.Arg14=) n.446G>A c.552G>A (p.Arg184=) | COSMIC COSMIC COSMIC COSMIC |
20 | g.63444729C>A | CA409654770 | KCNQ2 | c.620G>T (p.Arg207Leu) n.358G>T n.14G>T c.101G>T (p.Arg34Leu) c.278G>T (p.Arg93Leu) n.746G>T n.462G>T c.41G>T (p.Arg14Leu) n.445G>T c.551G>T (p.Arg184Leu) | gnomAD v4 |
20 | g.63444729C= | CA2374796039 | KCNQ2 | c.620G= (p.Arg207=) n.358G= n.14G= c.101G= (p.Arg34=) c.278G= (p.Arg93=) n.746G= n.462G= c.41G= (p.Arg14=) n.445G= c.551G= (p.Arg184=) | |
20 | g.63444729C>G | CA409654771 | KCNQ2 | c.620G>C (p.Arg207Pro) n.358G>C n.14G>C c.101G>C (p.Arg34Pro) c.278G>C (p.Arg93Pro) n.746G>C n.462G>C c.41G>C (p.Arg14Pro) n.445G>C c.551G>C (p.Arg184Pro) | |
20 | g.63444729C>T | CA118745 | KCNQ2 | c.620G>A (p.Arg207Gln) n.358G>A n.14G>A c.101G>A (p.Arg34Gln) c.278G>A (p.Arg93Gln) n.746G>A n.462G>A c.41G>A (p.Arg14Gln) n.445G>A c.551G>A (p.Arg184Gln) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
20 | g.63444730G>A | CA118744 | KCNQ2 | c.619C>T (p.Arg207Trp) n.357C>T n.13C>T c.100C>T (p.Arg34Trp) c.277C>T (p.Arg93Trp) n.745C>T n.461C>T c.40C>T (p.Arg14Trp) n.444C>T c.550C>T (p.Arg184Trp) | ClinVar dbSNP gnomAD v4 |
20 | g.63444730G>C | CA409654772 | KCNQ2 | c.619C>G (p.Arg207Gly) n.357C>G n.13C>G c.100C>G (p.Arg34Gly) c.277C>G (p.Arg93Gly) n.745C>G n.461C>G c.40C>G (p.Arg14Gly) n.444C>G c.550C>G (p.Arg184Gly) | |
20 | g.63444730G= | CA2374796053 | KCNQ2 | c.619C= (p.Arg207=) n.357C= n.13C= c.100C= (p.Arg34=) c.277C= (p.Arg93=) n.745C= n.461C= c.40C= (p.Arg14=) n.444C= c.550C= (p.Arg184=) | |
20 | g.63444730G>T | CA511211359 | KCNQ2 | c.619C>A (p.Arg207=) n.357C>A n.13C>A c.100C>A (p.Arg34=) c.277C>A (p.Arg93=) n.745C>A n.461C>A c.40C>A (p.Arg14=) n.444C>A c.550C>A (p.Arg184=) | COSMIC COSMIC COSMIC COSMIC |
20 | g.63444734_63444742del | CA2580098393 | KCNQ2 | c.611_619del (p.Gln204_Leu206del) n.349_357del n.5_13del c.92_100del (p.Gln31_Leu33del) c.269_277del (p.Gln90_Leu92del) n.737_745del n.453_461del c.32_40del (p.Gln11_Leu13del) n.436_444del c.542_550del (p.Gln181_Leu183del) | ClinVar |
20 | g.63444731C>A | CA511211361 | KCNQ2 | c.618G>T (p.Leu206=) n.356G>T n.12G>T c.99G>T (p.Leu33=) c.276G>T (p.Leu92=) n.744G>T n.460G>T c.39G>T (p.Leu13=) n.443G>T c.549G>T (p.Leu183=) | dbSNP gnomAD v4 |
20 | g.63444731C= | CA2374796059 | KCNQ2 | c.618G= (p.Leu206=) n.356G= n.12G= c.99G= (p.Leu33=) c.276G= (p.Leu92=) n.744G= n.460G= c.39G= (p.Leu13=) n.443G= c.549G= (p.Leu183=) | |
20 | g.63444731C>G | CA511211363 | KCNQ2 | c.618G>C (p.Leu206=) n.356G>C n.12G>C c.99G>C (p.Leu33=) c.276G>C (p.Leu92=) n.744G>C n.460G>C c.39G>C (p.Leu13=) n.443G>C c.549G>C (p.Leu183=) | |
20 | g.63444731C>T | CA511211365 | KCNQ2 | c.618G>A (p.Leu206=) n.356G>A n.12G>A c.99G>A (p.Leu33=) c.276G>A (p.Leu92=) n.744G>A n.460G>A c.39G>A (p.Leu13=) n.443G>A c.549G>A (p.Leu183=) | |
20 | g.63444732A= | CA2374796064 | KCNQ2 | c.617T= (p.Leu206=) n.355T= n.11T= c.98T= (p.Leu33=) c.275T= (p.Leu92=) n.743T= n.459T= c.38T= (p.Leu13=) n.442T= c.548T= (p.Leu183=) | |
20 | g.63444732A>C | CA409654773 | KCNQ2 | c.617T>G (p.Leu206Arg) n.355T>G n.11T>G c.98T>G (p.Leu33Arg) c.275T>G (p.Leu92Arg) n.743T>G n.459T>G c.38T>G (p.Leu13Arg) n.442T>G c.548T>G (p.Leu183Arg) | ClinVar dbSNP |
20 | g.63444732A>G | CA409654775 | KCNQ2 | c.617T>C (p.Leu206Pro) n.355T>C n.11T>C c.98T>C (p.Leu33Pro) c.275T>C (p.Leu92Pro) n.743T>C n.459T>C c.38T>C (p.Leu13Pro) n.442T>C c.548T>C (p.Leu183Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63444732A>T | CA409654774 | KCNQ2 | c.617T>A (p.Leu206Gln) n.355T>A n.11T>A c.98T>A (p.Leu33Gln) c.275T>A (p.Leu92Gln) n.743T>A n.459T>A c.38T>A (p.Leu13Gln) n.442T>A c.548T>A (p.Leu183Gln) | COSMIC COSMIC COSMIC COSMIC |
20 | g.63444733G>A | CA511211371 | KCNQ2 | c.616C>T (p.Leu206=) n.354C>T n.10C>T c.97C>T (p.Leu33=) c.274C>T (p.Leu92=) n.742C>T n.458C>T c.37C>T (p.Leu13=) n.441C>T c.547C>T (p.Leu183=) | |
20 | g.63444733G>C | CA409654776 | KCNQ2 | c.616C>G (p.Leu206Val) n.354C>G n.10C>G c.97C>G (p.Leu33Val) c.274C>G (p.Leu92Val) n.742C>G n.458C>G c.37C>G (p.Leu13Val) n.441C>G c.547C>G (p.Leu183Val) | |
20 | g.63444733G>T | CA409654777 | KCNQ2 | c.616C>A (p.Leu206Met) n.354C>A n.10C>A c.97C>A (p.Leu33Met) c.274C>A (p.Leu92Met) n.742C>A n.458C>A c.37C>A (p.Leu13Met) n.441C>A c.547C>A (p.Leu183Met) | gnomAD v4 |
20 | g.63444734A= | CA2374796069 | KCNQ2 | c.615T= (p.Ile205=) n.353T= n.9T= c.96T= (p.Ile32=) c.273T= (p.Ile91=) n.741T= n.457T= c.36T= (p.Ile12=) n.440T= c.546T= (p.Ile182=) | |
20 | g.63444734A>C | CA409654778 | KCNQ2 | c.615T>G (p.Ile205Met) n.353T>G n.9T>G c.96T>G (p.Ile32Met) c.273T>G (p.Ile91Met) n.741T>G n.457T>G c.36T>G (p.Ile12Met) n.440T>G c.546T>G (p.Ile182Met) | ClinVar dbSNP |
20 | g.63444734A>G | CA317461868 | KCNQ2 | c.615T>C (p.Ile205=) n.353T>C n.9T>C c.96T>C (p.Ile32=) c.273T>C (p.Ile91=) n.741T>C n.457T>C c.36T>C (p.Ile12=) n.440T>C c.546T>C (p.Ile182=) | dbSNP |
20 | g.63444734A>T | CA511211375 | KCNQ2 | c.615T>A (p.Ile205=) n.353T>A n.9T>A c.96T>A (p.Ile32=) c.273T>A (p.Ile91=) n.741T>A n.457T>A c.36T>A (p.Ile12=) n.440T>A c.546T>A (p.Ile182=) | |
20 | g.63444735A>C | CA409654779 | KCNQ2 | c.614T>G (p.Ile205Ser) n.352T>G n.8T>G c.95T>G (p.Ile32Ser) c.272T>G (p.Ile91Ser) n.740T>G n.456T>G c.35T>G (p.Ile12Ser) n.439T>G c.545T>G (p.Ile182Ser) | |
20 | g.63444735A>G | CA409654780 | KCNQ2 | c.614T>C (p.Ile205Thr) n.352T>C n.8T>C c.95T>C (p.Ile32Thr) c.272T>C (p.Ile91Thr) n.740T>C n.456T>C c.35T>C (p.Ile12Thr) n.439T>C c.545T>C (p.Ile182Thr) | |
20 | g.63444735A>T | CA409654781 | KCNQ2 | c.614T>A (p.Ile205Asn) n.352T>A n.8T>A c.95T>A (p.Ile32Asn) c.272T>A (p.Ile91Asn) n.740T>A n.456T>A c.35T>A (p.Ile12Asn) n.439T>A c.545T>A (p.Ile182Asn) | |
20 | g.63444736T>A | CA409654783 | KCNQ2 | c.613A>T (p.Ile205Phe) n.351A>T n.7A>T c.94A>T (p.Ile32Phe) c.271A>T (p.Ile91Phe) n.739A>T n.455A>T c.34A>T (p.Ile12Phe) n.438A>T c.544A>T (p.Ile182Phe) | |
20 | g.63444736T>C | CA10654824 | KCNQ2 | c.613A>G (p.Ile205Val) n.351A>G n.7A>G c.94A>G (p.Ile32Val) c.271A>G (p.Ile91Val) n.739A>G n.455A>G c.34A>G (p.Ile12Val) n.438A>G c.544A>G (p.Ile182Val) | ClinVar dbSNP |
20 | g.63444736T>G | CA409654782 | KCNQ2 | c.613A>C (p.Ile205Leu) n.351A>C n.7A>C c.94A>C (p.Ile32Leu) c.271A>C (p.Ile91Leu) n.739A>C n.455A>C c.34A>C (p.Ile12Leu) n.438A>C c.544A>C (p.Ile182Leu) | |
20 | g.63444736T= | CA2374796075 | KCNQ2 | c.613A= (p.Ile205=) n.351A= n.7A= c.94A= (p.Ile32=) c.271A= (p.Ile91=) n.739A= n.455A= c.34A= (p.Ile12=) n.438A= c.544A= (p.Ile182=) | |
20 | g.63444737C>A | CA315369 | KCNQ2 | c.612G>T (p.Gln204His) n.350G>T n.6G>T c.93G>T (p.Gln31His) c.270G>T (p.Gln90His) n.738G>T n.454G>T c.33G>T (p.Gln11His) n.437G>T c.543G>T (p.Gln181His) | ClinVar dbSNP |
20 | g.63444737C= | CA2374796082 | KCNQ2 | c.612G= (p.Gln204=) n.350G= n.6G= c.93G= (p.Gln31=) c.270G= (p.Gln90=) n.738G= n.454G= c.33G= (p.Gln11=) n.437G= c.543G= (p.Gln181=) | |
20 | g.63444737C>G | CA315367 | KCNQ2 | c.612G>C (p.Gln204His) n.350G>C n.6G>C c.93G>C (p.Gln31His) c.270G>C (p.Gln90His) n.738G>C n.454G>C c.33G>C (p.Gln11His) n.437G>C c.543G>C (p.Gln181His) | ClinVar dbSNP |
20 | g.63444737C>T | CA511211384 | KCNQ2 | c.612G>A (p.Gln204=) n.350G>A n.6G>A c.93G>A (p.Gln31=) c.270G>A (p.Gln90=) n.738G>A n.454G>A c.33G>A (p.Gln11=) n.437G>A c.543G>A (p.Gln181=) | |
20 | g.63444738T>A | CA409654784 | KCNQ2 | c.611A>T (p.Gln204Leu) n.349A>T n.5A>T c.92A>T (p.Gln31Leu) c.269A>T (p.Gln90Leu) n.737A>T n.453A>T c.32A>T (p.Gln11Leu) n.436A>T c.542A>T (p.Gln181Leu) | |
20 | g.63444738T>C | CA315365 | KCNQ2 | c.611A>G (p.Gln204Arg) n.349A>G n.5A>G c.92A>G (p.Gln31Arg) c.269A>G (p.Gln90Arg) n.737A>G n.453A>G c.32A>G (p.Gln11Arg) n.436A>G c.542A>G (p.Gln181Arg) | ClinVar dbSNP |
20 | g.63444738T>G | CA409654785 | KCNQ2 | c.611A>C (p.Gln204Pro) n.349A>C n.5A>C c.92A>C (p.Gln31Pro) c.269A>C (p.Gln90Pro) n.737A>C n.453A>C c.32A>C (p.Gln11Pro) n.436A>C c.542A>C (p.Gln181Pro) | |
20 | g.63444738T= | CA2374796097 | KCNQ2 | c.611A= (p.Gln204=) n.349A= n.5A= c.92A= (p.Gln31=) c.269A= (p.Gln90=) n.737A= n.453A= c.32A= (p.Gln11=) n.436A= c.542A= (p.Gln181=) | |
20 | g.63444739del | CA2573157300 | KCNQ2 | c.610del (p.Gln204ArgfsTer5) n.348del n.4del c.91del (p.Gln31ArgfsTer5) c.268del (p.Gln90ArgfsTer5) n.736del n.452del c.31del (p.Gln11ArgfsTer5) n.435del c.541del (p.Gln181ArgfsTer5) | ClinVar dbSNP |
20 | g.63444739G>A | CA409654788 | KCNQ2 | c.610C>T (p.Gln204Ter) n.348C>T n.4C>T c.91C>T (p.Gln31Ter) c.268C>T (p.Gln90Ter) n.736C>T n.452C>T c.31C>T (p.Gln11Ter) n.435C>T c.541C>T (p.Gln181Ter) | |
20 | g.63444739G>C | CA409654786 | KCNQ2 | c.610C>G (p.Gln204Glu) n.348C>G n.4C>G c.91C>G (p.Gln31Glu) c.268C>G (p.Gln90Glu) n.736C>G n.452C>G c.31C>G (p.Gln11Glu) n.435C>G c.541C>G (p.Gln181Glu) | |
20 | g.63444739G>T | CA409654787 | KCNQ2 | c.610C>A (p.Gln204Lys) n.348C>A n.4C>A c.91C>A (p.Gln31Lys) c.268C>A (p.Gln90Lys) n.736C>A n.452C>A c.31C>A (p.Gln11Lys) n.435C>A c.541C>A (p.Gln181Lys) | gnomAD v4 |
20 | g.63444740C>A | CA511211392 | KCNQ2 | c.609G>T (p.Leu203=) n.347G>T n.3G>T c.90G>T (p.Leu30=) c.267G>T (p.Leu89=) n.735G>T n.451G>T c.30G>T (p.Leu10=) n.434G>T c.540G>T (p.Leu180=) | gnomAD v4 |
20 | g.63444740C>G | CA511211393 | KCNQ2 | c.609G>C (p.Leu203=) n.347G>C n.3G>C c.90G>C (p.Leu30=) c.267G>C (p.Leu89=) n.735G>C n.451G>C c.30G>C (p.Leu10=) n.434G>C c.540G>C (p.Leu180=) | |
20 | g.63444740C>T | CA511211395 | KCNQ2 | c.609G>A (p.Leu203=) n.347G>A n.3G>A c.90G>A (p.Leu30=) c.267G>A (p.Leu89=) n.735G>A n.451G>A c.30G>A (p.Leu10=) n.434G>A c.540G>A (p.Leu180=) | gnomAD v4 |
20 | g.63444741A= | CA2374796103 | KCNQ2 | c.608T= (p.Leu203=) n.346T= n.2T= c.89T= (p.Leu30=) c.266T= (p.Leu89=) n.734T= n.450T= c.29T= (p.Leu10=) n.433T= c.539T= (p.Leu180=) | |
20 | g.63444741A>C | CA409654789 | KCNQ2 | c.608T>G (p.Leu203Arg) n.346T>G n.2T>G c.89T>G (p.Leu30Arg) c.266T>G (p.Leu89Arg) n.734T>G n.450T>G c.29T>G (p.Leu10Arg) n.433T>G c.539T>G (p.Leu180Arg) | |
20 | g.63444741A>G | CA10654825 | KCNQ2 | c.608T>C (p.Leu203Pro) n.346T>C n.2T>C c.89T>C (p.Leu30Pro) c.266T>C (p.Leu89Pro) n.734T>C n.450T>C c.29T>C (p.Leu10Pro) n.433T>C c.539T>C (p.Leu180Pro) | ClinVar dbSNP |
20 | g.63444741A>T | CA409654790 | KCNQ2 | c.608T>A (p.Leu203Gln) n.346T>A n.2T>A c.89T>A (p.Leu30Gln) c.266T>A (p.Leu89Gln) n.734T>A n.450T>A c.29T>A (p.Leu10Gln) n.433T>A c.539T>A (p.Leu180Gln) | |
20 | g.63444742G>A | CA16609052 | KCNQ2 | c.607C>T (p.Leu203=) n.345C>T n.1C>T c.88C>T (p.Leu30=) c.265C>T (p.Leu89=) n.733C>T n.449C>T c.28C>T (p.Leu10=) n.432C>T c.538C>T (p.Leu180=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63444742G>C | CA409654791 | KCNQ2 | c.607C>G (p.Leu203Val) n.345C>G n.1C>G c.88C>G (p.Leu30Val) c.265C>G (p.Leu89Val) n.733C>G n.449C>G c.28C>G (p.Leu10Val) n.432C>G c.538C>G (p.Leu180Val) | |
20 | g.63444742G= | CA2374796113 | KCNQ2 | c.607C= (p.Leu203=) n.345C= n.1C= c.88C= (p.Leu30=) c.265C= (p.Leu89=) n.733C= n.449C= c.28C= (p.Leu10=) n.432C= c.538C= (p.Leu180=) | |
20 | g.63444742G>T | CA409654792 | KCNQ2 | c.607C>A (p.Leu203Met) n.345C>A n.1C>A c.88C>A (p.Leu30Met) c.265C>A (p.Leu89Met) n.733C>A n.449C>A c.28C>A (p.Leu10Met) n.432C>A c.538C>A (p.Leu180Met) | |
20 | g.63444743G>A | CA511211403 | KCNQ2 | c.606C>T (p.Phe202=) n.344C>T c.87C>T (p.Phe29=) c.264C>T (p.Phe88=) n.732C>T n.448C>T c.27C>T (p.Phe9=) n.431C>T c.537C>T (p.Phe179=) | |
20 | g.63444743G>C | CA409654793 | KCNQ2 | c.606C>G (p.Phe202Leu) n.344C>G c.87C>G (p.Phe29Leu) c.264C>G (p.Phe88Leu) n.732C>G n.448C>G c.27C>G (p.Phe9Leu) n.431C>G c.537C>G (p.Phe179Leu) | |
20 | g.63444743G>T | CA409654794 | KCNQ2 | c.606C>A (p.Phe202Leu) n.344C>A c.87C>A (p.Phe29Leu) c.264C>A (p.Phe88Leu) n.732C>A n.448C>A c.27C>A (p.Phe9Leu) n.431C>A c.537C>A (p.Phe179Leu) | |
20 | g.63444744A>C | CA409654795 | KCNQ2 | c.605T>G (p.Phe202Cys) n.343T>G c.86T>G (p.Phe29Cys) c.263T>G (p.Phe88Cys) n.731T>G n.447T>G c.26T>G (p.Phe9Cys) n.430T>G c.536T>G (p.Phe179Cys) | |
20 | g.63444744A>G | CA409654796 | KCNQ2 | c.605T>C (p.Phe202Ser) n.343T>C c.86T>C (p.Phe29Ser) c.263T>C (p.Phe88Ser) n.731T>C n.447T>C c.26T>C (p.Phe9Ser) n.430T>C c.536T>C (p.Phe179Ser) | |
20 | g.63444744A>T | CA409654797 | KCNQ2 | c.605T>A (p.Phe202Tyr) n.343T>A c.86T>A (p.Phe29Tyr) c.263T>A (p.Phe88Tyr) n.731T>A n.447T>A c.26T>A (p.Phe9Tyr) n.430T>A c.536T>A (p.Phe179Tyr) | |
20 | g.63444745dup | CA2580098398 | KCNQ2 | c.605dup (p.Leu203ProfsTer?) n.343dup c.86dup (p.Leu30ProfsTer?) c.263dup (p.Leu89ProfsTer?) n.731dup n.447dup c.26dup (p.Leu10ProfsTer?) n.430dup c.536dup (p.Leu180ProfsTer?) | ClinVar |
20 | g.63444745A>C | CA409654798 | KCNQ2 | c.604T>G (p.Phe202Val) n.342T>G c.85T>G (p.Phe29Val) c.262T>G (p.Phe88Val) n.730T>G n.446T>G c.25T>G (p.Phe9Val) n.429T>G c.535T>G (p.Phe179Val) | |
20 | g.63444745A>G | CA409654799 | KCNQ2 | c.604T>C (p.Phe202Leu) n.342T>C c.85T>C (p.Phe29Leu) c.262T>C (p.Phe88Leu) n.730T>C n.446T>C c.25T>C (p.Phe9Leu) n.429T>C c.535T>C (p.Phe179Leu) | |
20 | g.63444745A>T | CA409654800 | KCNQ2 | c.604T>A (p.Phe202Ile) n.342T>A c.85T>A (p.Phe29Ile) c.262T>A (p.Phe88Ile) n.730T>A n.446T>A c.25T>A (p.Phe9Ile) n.429T>A c.535T>A (p.Phe179Ile) | |
20 | g.63444746G>A | CA511211409 | KCNQ2 | c.603C>T (p.Arg201=) n.341C>T c.84C>T (p.Arg28=) c.261C>T (p.Arg87=) n.729C>T n.445C>T c.24C>T (p.Arg8=) n.428C>T c.534C>T (p.Arg178=) | |
20 | g.63444746G>C | CA511211411 | KCNQ2 | c.603C>G (p.Arg201=) n.341C>G c.84C>G (p.Arg28=) c.261C>G (p.Arg87=) n.729C>G n.445C>G c.24C>G (p.Arg8=) n.428C>G c.534C>G (p.Arg178=) | |
20 | g.63444746G= | CA2374796119 | KCNQ2 | c.603C= (p.Arg201=) n.341C= c.84C= (p.Arg28=) c.261C= (p.Arg87=) n.729C= n.445C= c.24C= (p.Arg8=) n.428C= c.534C= (p.Arg178=) | |
20 | g.63444746G>T | CA16608426 | KCNQ2 | c.603C>A (p.Arg201=) n.341C>A c.84C>A (p.Arg28=) c.261C>A (p.Arg87=) n.729C>A n.445C>A c.24C>A (p.Arg8=) n.428C>A c.534C>A (p.Arg178=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63444747C>A | CA409654801 | KCNQ2 | c.602G>T (p.Arg201Leu) n.340G>T c.83G>T (p.Arg28Leu) c.260G>T (p.Arg87Leu) n.728G>T n.444G>T c.23G>T (p.Arg8Leu) n.427G>T c.533G>T (p.Arg178Leu) | |
20 | g.63444747C= | CA2374796126 | KCNQ2 | c.602G= (p.Arg201=) n.340G= c.83G= (p.Arg28=) c.260G= (p.Arg87=) n.728G= n.444G= c.23G= (p.Arg8=) n.427G= c.533G= (p.Arg178=) | |
20 | g.63444747C>G | CA409654802 | KCNQ2 | c.602G>C (p.Arg201Pro) n.340G>C c.83G>C (p.Arg28Pro) c.260G>C (p.Arg87Pro) n.728G>C n.444G>C c.23G>C (p.Arg8Pro) n.427G>C c.533G>C (p.Arg178Pro) | |
20 | g.63444747C>T | CA10654826 | KCNQ2 | c.602G>A (p.Arg201His) n.340G>A c.83G>A (p.Arg28His) c.260G>A (p.Arg87His) n.728G>A n.444G>A c.23G>A (p.Arg8His) n.427G>A c.533G>A (p.Arg178His) | ClinVar dbSNP |
20 | g.63444748G>A | CA278564 | KCNQ2 | c.601C>T (p.Arg201Cys) n.339C>T c.82C>T (p.Arg28Cys) c.259C>T (p.Arg87Cys) n.727C>T n.443C>T c.22C>T (p.Arg8Cys) n.426C>T c.532C>T (p.Arg178Cys) | ClinVar dbSNP gnomAD v4 |
20 | g.63444748G>C | CA409654803 | KCNQ2 | c.601C>G (p.Arg201Gly) n.339C>G c.82C>G (p.Arg28Gly) c.259C>G (p.Arg87Gly) n.727C>G n.443C>G c.22C>G (p.Arg8Gly) n.426C>G c.532C>G (p.Arg178Gly) | ClinVar |
20 | g.63444748G= | CA2374796138 | KCNQ2 | c.601C= (p.Arg201=) n.339C= c.82C= (p.Arg28=) c.259C= (p.Arg87=) n.727C= n.443C= c.22C= (p.Arg8=) n.426C= c.532C= (p.Arg178=) | |
20 | g.63444748G>T | CA409654804 | KCNQ2 | c.601C>A (p.Arg201Ser) n.339C>A c.82C>A (p.Arg28Ser) c.259C>A (p.Arg87Ser) n.727C>A n.443C>A c.22C>A (p.Arg8Ser) n.426C>A c.532C>A (p.Arg178Ser) | gnomAD v4 |
20 | g.63444749C>A | CA511211422 | KCNQ2 | c.600G>T (p.Leu200=) n.338G>T c.81G>T (p.Leu27=) c.258G>T (p.Leu86=) n.726G>T n.442G>T c.21G>T (p.Leu7=) n.425G>T c.531G>T (p.Leu177=) | |
20 | g.63444749C>G | CA511211420 | KCNQ2 | c.600G>C (p.Leu200=) n.338G>C c.81G>C (p.Leu27=) c.258G>C (p.Leu86=) n.726G>C n.442G>C c.21G>C (p.Leu7=) n.425G>C c.531G>C (p.Leu177=) | |
20 | g.63444749C>T | CA511211419 | KCNQ2 | c.600G>A (p.Leu200=) n.338G>A c.81G>A (p.Leu27=) c.258G>A (p.Leu86=) n.726G>A n.442G>A c.21G>A (p.Leu7=) n.425G>A c.531G>A (p.Leu177=) | |
20 | g.63444750A= | CA2374796142 | KCNQ2 | c.599T= (p.Leu200=) n.337T= c.80T= (p.Leu27=) c.257T= (p.Leu86=) n.725T= n.441T= c.20T= (p.Leu7=) n.424T= c.530T= (p.Leu177=) | |
20 | g.63444750A>C | CA409654805 | KCNQ2 | c.599T>G (p.Leu200Arg) n.337T>G c.80T>G (p.Leu27Arg) c.257T>G (p.Leu86Arg) n.725T>G n.441T>G c.20T>G (p.Leu7Arg) n.424T>G c.530T>G (p.Leu177Arg) | |
20 | g.63444750A>G | CA315363 | KCNQ2 | c.599T>C (p.Leu200Pro) n.337T>C c.80T>C (p.Leu27Pro) c.257T>C (p.Leu86Pro) n.725T>C n.441T>C c.20T>C (p.Leu7Pro) n.424T>C c.530T>C (p.Leu177Pro) | ClinVar dbSNP |
20 | g.63444750A>T | CA409654806 | KCNQ2 | c.599T>A (p.Leu200Gln) n.337T>A c.80T>A (p.Leu27Gln) c.257T>A (p.Leu86Gln) n.725T>A n.441T>A c.20T>A (p.Leu7Gln) n.424T>A c.530T>A (p.Leu177Gln) | |
20 | g.63444751G>A | CA511211427 | KCNQ2 | c.598C>T (p.Leu200=) n.336C>T c.79C>T (p.Leu27=) c.256C>T (p.Leu86=) n.724C>T n.440C>T c.19C>T (p.Leu7=) n.423C>T c.529C>T (p.Leu177=) | ClinVar dbSNP gnomAD v4 |
20 | g.63444751G>C | CA409654807 | KCNQ2 | c.598C>G (p.Leu200Val) n.336C>G c.79C>G (p.Leu27Val) c.256C>G (p.Leu86Val) n.724C>G n.440C>G c.19C>G (p.Leu7Val) n.423C>G c.529C>G (p.Leu177Val) | |
20 | g.63444751G>T | CA409654808 | KCNQ2 | c.598C>A (p.Leu200Met) n.336C>A c.79C>A (p.Leu27Met) c.256C>A (p.Leu86Met) n.724C>A n.440C>A c.19C>A (p.Leu7Met) n.423C>A c.529C>A (p.Leu177Met) | gnomAD v4 |
20 | g.63444752G>A | CA511211430 | KCNQ2 | c.597C>T (p.Ser199=) n.335C>T c.78C>T (p.Ser26=) c.255C>T (p.Ser85=) n.723C>T n.439C>T c.18C>T (p.Ser6=) n.422C>T c.528C>T (p.Ser176=) | gnomAD v4 |
20 | g.63444752G>C | CA409654809 | KCNQ2 | c.597C>G (p.Ser199Arg) n.335C>G c.78C>G (p.Ser26Arg) c.255C>G (p.Ser85Arg) n.723C>G n.439C>G c.18C>G (p.Ser6Arg) n.422C>G c.528C>G (p.Ser176Arg) | |
20 | g.63444752G>T | CA409654810 | KCNQ2 | c.597C>A (p.Ser199Arg) n.335C>A c.78C>A (p.Ser26Arg) c.255C>A (p.Ser85Arg) n.723C>A n.439C>A c.18C>A (p.Ser6Arg) n.422C>A c.528C>A (p.Ser176Arg) | ClinVar |
20 | g.63444753C>A | CA409654811 | KCNQ2 | c.596G>T (p.Ser199Ile) n.334G>T c.77G>T (p.Ser26Ile) c.254G>T (p.Ser85Ile) n.722G>T n.438G>T c.17G>T (p.Ser6Ile) n.421G>T c.527G>T (p.Ser176Ile) | gnomAD v4 |
20 | g.63444753C>G | CA409654812 | KCNQ2 | c.596G>C (p.Ser199Thr) n.334G>C c.77G>C (p.Ser26Thr) c.254G>C (p.Ser85Thr) n.722G>C n.438G>C c.17G>C (p.Ser6Thr) n.421G>C c.527G>C (p.Ser176Thr) | |
20 | g.63444753C>T | CA409654813 | KCNQ2 | c.596G>A (p.Ser199Asn) n.334G>A c.77G>A (p.Ser26Asn) c.254G>A (p.Ser85Asn) n.722G>A n.438G>A c.17G>A (p.Ser6Asn) n.421G>A c.527G>A (p.Ser176Asn) | gnomAD v4 |
20 | g.63444754T>A | CA409654814 | KCNQ2 | c.595A>T (p.Ser199Cys) n.333A>T c.76A>T (p.Ser26Cys) c.253A>T (p.Ser85Cys) n.721A>T n.437A>T c.16A>T (p.Ser6Cys) n.420A>T c.526A>T (p.Ser176Cys) | |
20 | g.63444754T>C | CA409654816 | KCNQ2 | c.595A>G (p.Ser199Gly) n.333A>G c.76A>G (p.Ser26Gly) c.253A>G (p.Ser85Gly) n.721A>G n.437A>G c.16A>G (p.Ser6Gly) n.420A>G c.526A>G (p.Ser176Gly) | gnomAD v4 |
20 | g.63444754T>G | CA409654815 | KCNQ2 | c.595A>C (p.Ser199Arg) n.333A>C c.76A>C (p.Ser26Arg) c.253A>C (p.Ser85Arg) n.721A>C n.437A>C c.16A>C (p.Ser6Arg) n.420A>C c.526A>C (p.Ser176Arg) | |
20 | g.63444754_63444757delinsTCCG | CA2374796151 | KCNQ2 | c.592_595delinsCGGA (p.Arg198=) n.330_333delinsCGGA c.73_76delinsCGGA (p.Arg25=) c.250_253delinsCGGA (p.Arg84=) n.718_721delinsCGGA n.434_437delinsCGGA c.13_16delinsCGGA (p.Arg5=) n.417_420delinsCGGA c.523_526delinsCGGA (p.Arg175=) | |
20 | g.63444755C>A | CA511211439 | KCNQ2 | c.594G>T (p.Arg198=) n.332G>T c.75G>T (p.Arg25=) c.252G>T (p.Arg84=) n.720G>T n.436G>T c.15G>T (p.Arg5=) n.419G>T c.525G>T (p.Arg175=) | |
20 | g.63444755C>G | CA511211441 | KCNQ2 | c.594G>C (p.Arg198=) n.332G>C c.75G>C (p.Arg25=) c.252G>C (p.Arg84=) n.720G>C n.436G>C c.15G>C (p.Arg5=) n.419G>C c.525G>C (p.Arg175=) | gnomAD v4 |
20 | g.63444755C>T | CA511211443 | KCNQ2 | c.594G>A (p.Arg198=) n.332G>A c.75G>A (p.Arg25=) c.252G>A (p.Arg84=) n.720G>A n.436G>A c.15G>A (p.Arg5=) n.419G>A c.525G>A (p.Arg175=) | |
20 | g.63444755_63444757delinsT | CA10654827 | KCNQ2 | c.592_594delinsA (p.Arg198LysfsTer?) n.330_332delinsA c.73_75delinsA (p.Arg25LysfsTer?) c.250_252delinsA (p.Arg84LysfsTer?) n.718_720delinsA n.434_436delinsA c.13_15delinsA (p.Arg5LysfsTer?) n.417_419delinsA c.523_525delinsA (p.Arg175LysfsTer?) | ClinVar dbSNP |
20 | g.63444755_63444765delinsCCGGAGCGCAG | CA2374796159 | KCNQ2 | c.584_594delinsCTGCGCTCCGG (p.Ser195=) n.322_332delinsCTGCGCTCCGG c.65_75delinsCTGCGCTCCGG (p.Ser22=) c.242_252delinsCTGCGCTCCGG (p.Ser81=) n.710_720delinsCTGCGCTCCGG n.426_436delinsCTGCGCTCCGG c.5_15delinsCTGCGCTCCGG (p.Ser2=) n.409_419delinsCTGCGCTCCGG c.515_525delinsCTGCGCTCCGG (p.Ser172=) | |
20 | g.63444756C>A | CA409654817 | KCNQ2 | c.593G>T (p.Arg198Leu) n.331G>T c.74G>T (p.Arg25Leu) c.251G>T (p.Arg84Leu) n.719G>T n.435G>T c.14G>T (p.Arg5Leu) n.418G>T c.524G>T (p.Arg175Leu) | |
20 | g.63444756C= | CA2374796165 | KCNQ2 | c.593G= (p.Arg198=) n.331G= c.74G= (p.Arg25=) c.251G= (p.Arg84=) n.719G= n.435G= c.14G= (p.Arg5=) n.418G= c.524G= (p.Arg175=) | |
20 | g.63444756C>G | CA409654818 | KCNQ2 | c.593G>C (p.Arg198Pro) n.331G>C c.74G>C (p.Arg25Pro) c.251G>C (p.Arg84Pro) n.719G>C n.435G>C c.14G>C (p.Arg5Pro) n.418G>C c.524G>C (p.Arg175Pro) | ClinVar dbSNP |
20 | g.63444756C>T | CA315361 | KCNQ2 | c.593G>A (p.Arg198Gln) n.331G>A c.74G>A (p.Arg25Gln) c.251G>A (p.Arg84Gln) n.719G>A n.435G>A c.14G>A (p.Arg5Gln) n.418G>A c.524G>A (p.Arg175Gln) | ClinVar dbSNP |
20 | g.63444756_63444765delinsT | CA342510 | KCNQ2 | c.584_593delinsA (p.Ser195Ter) n.322_331delinsA c.65_74delinsA (p.Ser22Ter) c.242_251delinsA (p.Ser81Ter) n.710_719delinsA n.426_435delinsA c.5_14delinsA (p.Ser2Ter) n.409_418delinsA c.515_524delinsA (p.Ser172Ter) | ClinVar dbSNP |
20 | g.63444757G>A | CA409654819 | KCNQ2 | c.592C>T (p.Arg198Trp) n.330C>T c.73C>T (p.Arg25Trp) c.250C>T (p.Arg84Trp) n.718C>T n.434C>T c.13C>T (p.Arg5Trp) n.417C>T c.523C>T (p.Arg175Trp) | ClinVar dbSNP |
20 | g.63444757G>C | CA409654820 | KCNQ2 | c.592C>G (p.Arg198Gly) n.330C>G c.73C>G (p.Arg25Gly) c.250C>G (p.Arg84Gly) n.718C>G n.434C>G c.13C>G (p.Arg5Gly) n.417C>G c.523C>G (p.Arg175Gly) | |
20 | g.63444757G>T | CA511211449 | KCNQ2 | c.592C>A (p.Arg198=) n.330C>A c.73C>A (p.Arg25=) c.250C>A (p.Arg84=) n.718C>A n.434C>A c.13C>A (p.Arg5=) n.417C>A c.523C>A (p.Arg175=) | |
20 | g.63444758G>A | CA511211452 | KCNQ2 | c.591C>T (p.Leu197=) n.329C>T c.72C>T (p.Leu24=) c.249C>T (p.Leu83=) n.717C>T n.433C>T c.12C>T (p.Leu4=) n.416C>T c.522C>T (p.Leu174=) | |
20 | g.63444758G>C | CA511211454 | KCNQ2 | c.591C>G (p.Leu197=) n.329C>G c.72C>G (p.Leu24=) c.249C>G (p.Leu83=) n.717C>G n.433C>G c.12C>G (p.Leu4=) n.416C>G c.522C>G (p.Leu174=) | |
20 | g.63444758G>T | CA511211455 | KCNQ2 | c.591C>A (p.Leu197=) n.329C>A c.72C>A (p.Leu24=) c.249C>A (p.Leu83=) n.717C>A n.433C>A c.12C>A (p.Leu4=) n.416C>A c.522C>A (p.Leu174=) | |
20 | g.63444759A= | CA2374796172 | KCNQ2 | c.590T= (p.Leu197=) n.328T= c.71T= (p.Leu24=) c.248T= (p.Leu83=) n.716T= n.432T= c.11T= (p.Leu4=) n.415T= c.521T= (p.Leu174=) | |
20 | g.63444759A>C | CA409654821 | KCNQ2 | c.590T>G (p.Leu197Arg) n.328T>G c.71T>G (p.Leu24Arg) c.248T>G (p.Leu83Arg) n.716T>G n.432T>G c.11T>G (p.Leu4Arg) n.415T>G c.521T>G (p.Leu174Arg) | |
20 | g.63444759A>G | CA409654822 | KCNQ2 | c.590T>C (p.Leu197Pro) n.328T>C c.71T>C (p.Leu24Pro) c.248T>C (p.Leu83Pro) n.716T>C n.432T>C c.11T>C (p.Leu4Pro) n.415T>C c.521T>C (p.Leu174Pro) | ClinVar dbSNP |
20 | g.63444759A>T | CA409654823 | KCNQ2 | c.590T>A (p.Leu197His) n.328T>A c.71T>A (p.Leu24His) c.248T>A (p.Leu83His) n.716T>A n.432T>A c.11T>A (p.Leu4His) n.415T>A c.521T>A (p.Leu174His) | |
20 | g.63444759_63444762delinsGGCA | CA2695230091 | KCNQ2 | c.587_590delinsTGCC (p.Ala196_Leu197delinsValPro) n.325_328delinsTGCC c.68_71delinsTGCC (p.Ala23_Leu24delinsValPro) c.245_248delinsTGCC (p.Ala82_Leu83delinsValPro) n.713_716delinsTGCC n.429_432delinsTGCC c.8_11delinsTGCC (p.Ala3_Leu4delinsValPro) n.412_415delinsTGCC c.518_521delinsTGCC (p.Ala173_Leu174delinsValPro) | |
20 | g.63444760G>A | CA409654824 | KCNQ2 | c.589C>T (p.Leu197Phe) n.327C>T c.70C>T (p.Leu24Phe) c.247C>T (p.Leu83Phe) n.715C>T n.431C>T c.10C>T (p.Leu4Phe) n.414C>T c.520C>T (p.Leu174Phe) | |
20 | g.63444760G>C | CA409654826 | KCNQ2 | c.589C>G (p.Leu197Val) n.327C>G c.70C>G (p.Leu24Val) c.247C>G (p.Leu83Val) n.715C>G n.431C>G c.10C>G (p.Leu4Val) n.414C>G c.520C>G (p.Leu174Val) | |
20 | g.63444760G>T | CA409654825 | KCNQ2 | c.589C>A (p.Leu197Ile) n.327C>A c.70C>A (p.Leu24Ile) c.247C>A (p.Leu83Ile) n.715C>A n.431C>A c.10C>A (p.Leu4Ile) n.414C>A c.520C>A (p.Leu174Ile) | |
20 | g.63444761C>A | CA511211462 | KCNQ2 | c.588G>T (p.Ala196=) n.326G>T c.69G>T (p.Ala23=) c.246G>T (p.Ala82=) n.714G>T n.430G>T c.9G>T (p.Ala3=) n.413G>T c.519G>T (p.Ala173=) | gnomAD v4 |
20 | g.63444761C= | CA2374796173 | KCNQ2 | c.588G= (p.Ala196=) n.326G= c.69G= (p.Ala23=) c.246G= (p.Ala82=) n.714G= n.430G= c.9G= (p.Ala3=) n.413G= c.519G= (p.Ala173=) | |
20 | g.63444761C>G | CA511211464 | KCNQ2 | c.588G>C (p.Ala196=) n.326G>C c.69G>C (p.Ala23=) c.246G>C (p.Ala82=) n.714G>C n.430G>C c.9G>C (p.Ala3=) n.413G>C c.519G>C (p.Ala173=) | |
20 | g.63444761C>T | CA9958773 | KCNQ2 | c.588G>A (p.Ala196=) n.326G>A c.69G>A (p.Ala23=) c.246G>A (p.Ala82=) n.714G>A n.430G>A c.9G>A (p.Ala3=) n.413G>A c.519G>A (p.Ala173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
20 | g.63444762G>A | CA342514 | KCNQ2 | c.587C>T (p.Ala196Val) n.325C>T c.68C>T (p.Ala23Val) c.245C>T (p.Ala82Val) n.713C>T n.429C>T c.8C>T (p.Ala3Val) n.412C>T c.518C>T (p.Ala173Val) | ClinVar dbSNP gnomAD v4 |
20 | g.63444762G>C | CA409654827 | KCNQ2 | c.587C>G (p.Ala196Gly) n.325C>G c.68C>G (p.Ala23Gly) c.245C>G (p.Ala82Gly) n.713C>G n.429C>G c.8C>G (p.Ala3Gly) n.412C>G c.518C>G (p.Ala173Gly) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63444762G= | CA2374796174 | KCNQ2 | c.587C= (p.Ala196=) n.325C= c.68C= (p.Ala23=) c.245C= (p.Ala82=) n.713C= n.429C= c.8C= (p.Ala3=) n.412C= c.518C= (p.Ala173=) | |
20 | g.63444762G>T | CA409654828 | KCNQ2 | c.587C>A (p.Ala196Glu) n.325C>A c.68C>A (p.Ala23Glu) c.245C>A (p.Ala82Glu) n.713C>A n.429C>A c.8C>A (p.Ala3Glu) n.412C>A c.518C>A (p.Ala173Glu) | |
20 | g.63444763C>A | CA409654829 | KCNQ2 | c.586G>T (p.Ala196Ser) n.324G>T c.67G>T (p.Ala23Ser) c.244G>T (p.Ala82Ser) n.712G>T n.428G>T c.7G>T (p.Ala3Ser) n.411G>T c.517G>T (p.Ala173Ser) | |
20 | g.63444763C= | CA2374796175 | KCNQ2 | c.586G= (p.Ala196=) n.324G= c.67G= (p.Ala23=) c.244G= (p.Ala82=) n.712G= n.428G= c.7G= (p.Ala3=) n.411G= c.517G= (p.Ala173=) | |
20 | g.63444763C>G | CA409654830 | KCNQ2 | c.586G>C (p.Ala196Pro) n.324G>C c.67G>C (p.Ala23Pro) c.244G>C (p.Ala82Pro) n.712G>C n.428G>C c.7G>C (p.Ala3Pro) n.411G>C c.517G>C (p.Ala173Pro) | |
20 | g.63444763C>T | CA409654831 | KCNQ2 | c.586G>A (p.Ala196Thr) n.324G>A c.67G>A (p.Ala23Thr) c.244G>A (p.Ala82Thr) n.712G>A n.428G>A c.7G>A (p.Ala3Thr) n.411G>A c.517G>A (p.Ala173Thr) | |
20 | g.63444764A>C | CA511211475 | KCNQ2 | c.585T>G (p.Ser195=) n.323T>G c.66T>G (p.Ser22=) c.243T>G (p.Ser81=) n.711T>G n.427T>G c.6T>G (p.Ser2=) n.410T>G c.516T>G (p.Ser172=) | |
20 | g.63444764A>G | CA511211477 | KCNQ2 | c.585T>C (p.Ser195=) n.323T>C c.66T>C (p.Ser22=) c.243T>C (p.Ser81=) n.711T>C n.427T>C c.6T>C (p.Ser2=) n.410T>C c.516T>C (p.Ser172=) | gnomAD v4 |
20 | g.63444764A>T | CA511211473 | KCNQ2 | c.585T>A (p.Ser195=) n.323T>A c.66T>A (p.Ser22=) c.243T>A (p.Ser81=) n.711T>A n.427T>A c.6T>A (p.Ser2=) n.410T>A c.516T>A (p.Ser172=) | |
20 | g.63444764dup | CA342513 | KCNQ2 | c.585dup (p.Ala196CysfsTer?) n.323dup c.66dup (p.Ala23CysfsTer?) c.243dup (p.Ala82CysfsTer?) n.711dup n.427dup c.6dup (p.Ala3CysfsTer?) n.410dup c.516dup (p.Ala173CysfsTer?) | ClinVar dbSNP |
20 | g.63444765G>A | CA409654832 | KCNQ2 | c.584C>T (p.Ser195Phe) n.322C>T c.65C>T (p.Ser22Phe) c.242C>T (p.Ser81Phe) n.710C>T n.426C>T c.5C>T (p.Ser2Phe) n.409C>T c.515C>T (p.Ser172Phe) | ClinVar dbSNP |
20 | g.63444765G>C | CA409654833 | KCNQ2 | c.584C>G (p.Ser195Cys) n.322C>G c.65C>G (p.Ser22Cys) c.242C>G (p.Ser81Cys) n.710C>G n.426C>G c.5C>G (p.Ser2Cys) n.409C>G c.515C>G (p.Ser172Cys) | ClinVar dbSNP |
20 | g.63444765G= | CA2374796176 | KCNQ2 | c.584C= (p.Ser195=) n.322C= c.65C= (p.Ser22=) c.242C= (p.Ser81=) n.710C= n.426C= c.5C= (p.Ser2=) n.409C= c.515C= (p.Ser172=) | |
20 | g.63444765G>T | CA409654834 | KCNQ2 | c.584C>A (p.Ser195Tyr) n.322C>A c.65C>A (p.Ser22Tyr) c.242C>A (p.Ser81Tyr) n.710C>A n.426C>A c.5C>A (p.Ser2Tyr) n.409C>A c.515C>A (p.Ser172Tyr) | |
20 | g.63444766A= | CA2374796177 | KCNQ2 | c.583T= (p.Ser195=) n.321T= c.64T= (p.Ser22=) c.241T= (p.Ser81=) n.709T= n.425T= c.4T= (p.Ser2=) n.408T= c.514T= (p.Ser172=) | |
20 | g.63444766A>C | CA409654835 | KCNQ2 | c.583T>G (p.Ser195Ala) n.321T>G c.64T>G (p.Ser22Ala) c.241T>G (p.Ser81Ala) n.709T>G n.425T>G c.4T>G (p.Ser2Ala) n.408T>G c.514T>G (p.Ser172Ala) | |
20 | g.63444766A>G | CA315359 | KCNQ2 | c.583T>C (p.Ser195Pro) n.321T>C c.64T>C (p.Ser22Pro) c.241T>C (p.Ser81Pro) n.709T>C n.425T>C c.4T>C (p.Ser2Pro) n.408T>C c.514T>C (p.Ser172Pro) | ClinVar dbSNP |
20 | g.63444766A>T | CA409654836 | KCNQ2 | c.583T>A (p.Ser195Thr) n.321T>A c.64T>A (p.Ser22Thr) c.241T>A (p.Ser81Thr) n.709T>A n.425T>A c.4T>A (p.Ser2Thr) n.408T>A c.514T>A (p.Ser172Thr) | COSMIC COSMIC COSMIC COSMIC |