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