UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 20 | g.63444767T>A | CA511211487 | KCNQ2 | c.582A>T (p.Thr194=) n.320A>T c.63A>T (p.Thr21=) c.240A>T (p.Thr80=) n.708A>T n.424A>T c.3A>T (p.Thr1=) n.407A>T c.513A>T (p.Thr171=) | |
| 20 | g.63444767T>C | CA9958774 | KCNQ2 | c.582A>G (p.Thr194=) n.320A>G c.63A>G (p.Thr21=) c.240A>G (p.Thr80=) n.708A>G n.424A>G c.3A>G (p.Thr1=) n.407A>G c.513A>G (p.Thr171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63444767T>G | CA511211491 | KCNQ2 | c.582A>C (p.Thr194=) n.320A>C c.63A>C (p.Thr21=) c.240A>C (p.Thr80=) n.708A>C n.424A>C c.3A>C (p.Thr1=) n.407A>C c.513A>C (p.Thr171=) | |
| 20 | g.63444767T= | CA2374796178 | KCNQ2 | c.582A= (p.Thr194=) n.320A= c.63A= (p.Thr21=) c.240A= (p.Thr80=) n.708A= n.424A= c.3A= (p.Thr1=) n.407A= c.513A= (p.Thr171=) | |
| 20 | g.63444768G>A | CA409654837 | KCNQ2 | c.581C>T (p.Thr194Ile) n.319C>T c.62C>T (p.Thr21Ile) c.239C>T (p.Thr80Ile) n.707C>T n.423C>T c.2C>T (p.Thr1Ile) n.406C>T c.512C>T (p.Thr171Ile) | ClinVar dbSNP |
| 20 | g.63444768G>C | CA409654839 | KCNQ2 | c.581C>G (p.Thr194Arg) n.319C>G c.62C>G (p.Thr21Arg) c.239C>G (p.Thr80Arg) n.707C>G n.423C>G c.2C>G (p.Thr1Arg) n.406C>G c.512C>G (p.Thr171Arg) | |
| 20 | g.63444768G= | CA2374796179 | KCNQ2 | c.581C= (p.Thr194=) n.319C= c.62C= (p.Thr21=) c.239C= (p.Thr80=) n.707C= n.423C= c.2C= (p.Thr1=) n.406C= c.512C= (p.Thr171=) | |
| 20 | g.63444768G>T | CA409654838 | KCNQ2 | c.581C>A (p.Thr194Lys) n.319C>A c.62C>A (p.Thr21Lys) c.239C>A (p.Thr80Lys) n.707C>A n.423C>A c.2C>A (p.Thr1Lys) n.406C>A c.512C>A (p.Thr171Lys) | |
| 20 | g.63444769T>A | CA409654840 | KCNQ2 | c.580A>T (p.Thr194Ser) n.318A>T c.61A>T (p.Thr21Ser) c.238A>T (p.Thr80Ser) n.706A>T n.422A>T c.1A>T (p.Thr1Ser) n.405A>T c.511A>T (p.Thr171Ser) | |
| 20 | g.63444769T>C | CA409654841 | KCNQ2 | c.580A>G (p.Thr194Ala) n.318A>G c.61A>G (p.Thr21Ala) c.238A>G (p.Thr80Ala) n.706A>G n.422A>G c.1A>G (p.Thr1Ala) n.405A>G c.511A>G (p.Thr171Ala) | gnomAD v4 |
| 20 | g.63444769T>G | CA409654842 | KCNQ2 | c.580A>C (p.Thr194Pro) n.318A>C c.61A>C (p.Thr21Pro) c.238A>C (p.Thr80Pro) n.706A>C n.422A>C c.1A>C (p.Thr1Pro) n.405A>C c.511A>C (p.Thr171Pro) | |
| 20 | g.63444770G>A | CA511211501 | KCNQ2 | c.579C>T (p.Ala193=) n.317C>T c.60C>T (p.Ala20=) c.237C>T (p.Ala79=) n.705C>T n.421C>T n.404C>T c.510C>T (p.Ala170=) | |
| 20 | g.63444770G>C | CA511211503 | KCNQ2 | c.579C>G (p.Ala193=) n.317C>G c.60C>G (p.Ala20=) c.237C>G (p.Ala79=) n.705C>G n.421C>G n.404C>G c.510C>G (p.Ala170=) | |
| 20 | g.63444770G>T | CA511211504 | KCNQ2 | c.579C>A (p.Ala193=) n.317C>A c.60C>A (p.Ala20=) c.237C>A (p.Ala79=) n.705C>A n.421C>A n.404C>A c.510C>A (p.Ala170=) | |
| 20 | g.63444771del | CA2653805366 | KCNQ2 | c.579del (p.Thr194HisfsTer15) n.317del c.60del (p.Thr21HisfsTer15) c.237del (p.Thr80HisfsTer15) n.705del n.421del n.404del c.510del (p.Thr171HisfsTer15) | gnomAD v4 |
| 20 | g.63444771G>A | CA409654843 | KCNQ2 | c.578C>T (p.Ala193Val) n.316C>T c.59C>T (p.Ala20Val) c.236C>T (p.Ala79Val) n.704C>T n.420C>T n.403C>T c.509C>T (p.Ala170Val) | ClinVar dbSNP |
| 20 | g.63444771G>C | CA409654844 | KCNQ2 | c.578C>G (p.Ala193Gly) n.316C>G c.59C>G (p.Ala20Gly) c.236C>G (p.Ala79Gly) n.704C>G n.420C>G n.403C>G c.509C>G (p.Ala170Gly) | |
| 20 | g.63444771G= | CA2374796180 | KCNQ2 | c.578C= (p.Ala193=) n.316C= c.59C= (p.Ala20=) c.236C= (p.Ala79=) n.704C= n.420C= n.403C= c.509C= (p.Ala170=) | |
| 20 | g.63444771G>T | CA315357 | KCNQ2 | c.578C>A (p.Ala193Asp) n.316C>A c.59C>A (p.Ala20Asp) c.236C>A (p.Ala79Asp) n.704C>A n.420C>A n.403C>A c.509C>A (p.Ala170Asp) | ClinVar dbSNP |
| 20 | g.63444772C>A | CA409654845 | KCNQ2 | c.577G>T (p.Ala193Ser) n.315G>T c.58G>T (p.Ala20Ser) c.235G>T (p.Ala79Ser) n.703G>T n.419G>T n.402G>T c.508G>T (p.Ala170Ser) | |
| 20 | g.63444772C>G | CA409654846 | KCNQ2 | c.577G>C (p.Ala193Pro) n.315G>C c.58G>C (p.Ala20Pro) c.235G>C (p.Ala79Pro) n.703G>C n.419G>C n.402G>C c.508G>C (p.Ala170Pro) | |
| 20 | g.63444772C>T | CA409654847 | KCNQ2 | c.577G>A (p.Ala193Thr) n.315G>A c.58G>A (p.Ala20Thr) c.235G>A (p.Ala79Thr) n.703G>A n.419G>A n.402G>A c.508G>A (p.Ala170Thr) | |
| 20 | g.63444773A>C | CA409654848 | KCNQ2 | c.576T>G (p.Phe192Leu) n.314T>G c.57T>G (p.Phe19Leu) c.234T>G (p.Phe78Leu) n.702T>G n.418T>G n.401T>G c.507T>G (p.Phe169Leu) | |
| 20 | g.63444773A>G | CA511211515 | KCNQ2 | c.576T>C (p.Phe192=) n.314T>C c.57T>C (p.Phe19=) c.234T>C (p.Phe78=) n.702T>C n.418T>C n.401T>C c.507T>C (p.Phe169=) | |
| 20 | g.63444773A>T | CA409654849 | KCNQ2 | c.576T>A (p.Phe192Leu) n.314T>A c.57T>A (p.Phe19Leu) c.234T>A (p.Phe78Leu) n.702T>A n.418T>A n.401T>A c.507T>A (p.Phe169Leu) | |
| 20 | g.63444774A>C | CA409654852 | KCNQ2 | c.575T>G (p.Phe192Cys) n.313T>G c.56T>G (p.Phe19Cys) c.233T>G (p.Phe78Cys) n.701T>G n.417T>G n.400T>G c.506T>G (p.Phe169Cys) | |
| 20 | g.63444774A>G | CA409654851 | KCNQ2 | c.575T>C (p.Phe192Ser) n.313T>C c.56T>C (p.Phe19Ser) c.233T>C (p.Phe78Ser) n.701T>C n.417T>C n.400T>C c.506T>C (p.Phe169Ser) | |
| 20 | g.63444774A>T | CA409654850 | KCNQ2 | c.575T>A (p.Phe192Tyr) n.313T>A c.56T>A (p.Phe19Tyr) c.233T>A (p.Phe78Tyr) n.701T>A n.417T>A n.400T>A c.506T>A (p.Phe169Tyr) | |
| 20 | g.63444775A>C | CA409654855 | KCNQ2 | c.574T>G (p.Phe192Val) n.312T>G c.55T>G (p.Phe19Val) c.232T>G (p.Phe78Val) n.700T>G n.416T>G n.399T>G c.505T>G (p.Phe169Val) | |
| 20 | g.63444775A>G | CA409654853 | KCNQ2 | c.574T>C (p.Phe192Leu) n.312T>C c.55T>C (p.Phe19Leu) c.232T>C (p.Phe78Leu) n.700T>C n.416T>C n.399T>C c.505T>C (p.Phe169Leu) | |
| 20 | g.63444775A>T | CA409654854 | KCNQ2 | c.574T>A (p.Phe192Ile) n.312T>A c.55T>A (p.Phe19Ile) c.232T>A (p.Phe78Ile) n.700T>A n.416T>A n.399T>A c.505T>A (p.Phe169Ile) | |
| 20 | g.63444776G>A | CA511211525 | KCNQ2 | c.573C>T (p.Val191=) n.311C>T c.54C>T (p.Val18=) c.231C>T (p.Val77=) n.699C>T n.415C>T n.398C>T c.504C>T (p.Val168=) | COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444776G>C | CA511211526 | KCNQ2 | c.573C>G (p.Val191=) n.311C>G c.54C>G (p.Val18=) c.231C>G (p.Val77=) n.699C>G n.415C>G n.398C>G c.504C>G (p.Val168=) | |
| 20 | g.63444776G>T | CA511211528 | KCNQ2 | c.573C>A (p.Val191=) n.311C>A c.54C>A (p.Val18=) c.231C>A (p.Val77=) n.699C>A n.415C>A n.398C>A c.504C>A (p.Val168=) | |
| 20 | g.63444777A>C | CA409654856 | KCNQ2 | c.572T>G (p.Val191Gly) n.310T>G c.53T>G (p.Val18Gly) c.230T>G (p.Val77Gly) n.698T>G n.414T>G n.397T>G c.503T>G (p.Val168Gly) | |
| 20 | g.63444777A>G | CA409654857 | KCNQ2 | c.572T>C (p.Val191Ala) n.310T>C c.53T>C (p.Val18Ala) c.230T>C (p.Val77Ala) n.698T>C n.414T>C n.397T>C c.503T>C (p.Val168Ala) | |
| 20 | g.63444777A>T | CA409654858 | KCNQ2 | c.572T>A (p.Val191Asp) n.310T>A c.53T>A (p.Val18Asp) c.230T>A (p.Val77Asp) n.698T>A n.414T>A n.397T>A c.503T>A (p.Val168Asp) | |
| 20 | g.63444778C>A | CA409654860 | KCNQ2 | c.571G>T (p.Val191Phe) n.309G>T c.52G>T (p.Val18Phe) c.229G>T (p.Val77Phe) n.697G>T n.413G>T n.396G>T c.502G>T (p.Val168Phe) | |
| 20 | g.63444778C= | CA2374796181 | KCNQ2 | c.571G= (p.Val191=) n.309G= c.52G= (p.Val18=) c.229G= (p.Val77=) n.697G= n.413G= n.396G= c.502G= (p.Val168=) | |
| 20 | g.63444778C>G | CA409654859 | KCNQ2 | c.571G>C (p.Val191Leu) n.309G>C c.52G>C (p.Val18Leu) c.229G>C (p.Val77Leu) n.697G>C n.413G>C n.396G>C c.502G>C (p.Val168Leu) | |
| 20 | g.63444778C>T | CA9958775 | KCNQ2 | c.571G>A (p.Val191Ile) n.309G>A c.52G>A (p.Val18Ile) c.229G>A (p.Val77Ile) n.697G>A n.413G>A n.396G>A c.502G>A (p.Val168Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63444779G>A | CA291783 | KCNQ2 | c.570C>T (p.Asn190=) n.308C>T c.51C>T (p.Asn17=) c.228C>T (p.Asn76=) n.696C>T n.412C>T n.395C>T c.501C>T (p.Asn167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 20 | g.63444779G>C | CA409654861 | KCNQ2 | c.570C>G (p.Asn190Lys) n.308C>G c.51C>G (p.Asn17Lys) c.228C>G (p.Asn76Lys) n.696C>G n.412C>G n.395C>G c.501C>G (p.Asn167Lys) | |
| 20 | g.63444779G= | CA2374796182 | KCNQ2 | c.570C= (p.Asn190=) n.308C= c.51C= (p.Asn17=) c.228C= (p.Asn76=) n.696C= n.412C= n.395C= c.501C= (p.Asn167=) | |
| 20 | g.63444779G>T | CA409654862 | KCNQ2 | c.570C>A (p.Asn190Lys) n.308C>A c.51C>A (p.Asn17Lys) c.228C>A (p.Asn76Lys) n.696C>A n.412C>A n.395C>A c.501C>A (p.Asn167Lys) | ClinVar dbSNP |
| 20 | g.63444780_63444782del | CA2653805376 | KCNQ2 | c.568_570del (p.Asn190del) n.306_308del c.49_51del (p.Asn17del) c.226_228del (p.Asn76del) n.694_696del n.410_412del n.393_395del c.499_501del (p.Asn167del) | gnomAD v4 |
| 20 | g.63444780T>A | CA409654863 | KCNQ2 | c.569A>T (p.Asn190Ile) n.307A>T c.50A>T (p.Asn17Ile) c.227A>T (p.Asn76Ile) n.695A>T n.411A>T n.394A>T c.500A>T (p.Asn167Ile) | ClinVar dbSNP |
| 20 | g.63444780T>C | CA409654864 | KCNQ2 | c.569A>G (p.Asn190Ser) n.307A>G c.50A>G (p.Asn17Ser) c.227A>G (p.Asn76Ser) n.695A>G n.411A>G n.394A>G c.500A>G (p.Asn167Ser) | |
| 20 | g.63444780T>G | CA409654865 | KCNQ2 | c.569A>C (p.Asn190Thr) n.307A>C c.50A>C (p.Asn17Thr) c.227A>C (p.Asn76Thr) n.695A>C n.411A>C n.394A>C c.500A>C (p.Asn167Thr) | |
| 20 | g.63444781T>A | CA409654866 | KCNQ2 | c.568A>T (p.Asn190Tyr) n.306A>T c.49A>T (p.Asn17Tyr) c.226A>T (p.Asn76Tyr) n.694A>T n.410A>T n.393A>T c.499A>T (p.Asn167Tyr) | |
| 20 | g.63444781T>C | CA409654868 | KCNQ2 | c.568A>G (p.Asn190Asp) n.306A>G c.49A>G (p.Asn17Asp) c.226A>G (p.Asn76Asp) n.694A>G n.410A>G n.393A>G c.499A>G (p.Asn167Asp) | |
| 20 | g.63444781T>G | CA409654867 | KCNQ2 | c.568A>C (p.Asn190His) n.306A>C c.49A>C (p.Asn17His) c.226A>C (p.Asn76His) n.694A>C n.410A>C n.393A>C c.499A>C (p.Asn167His) | |
| 20 | g.63444782G>A | CA511211545 | KCNQ2 | c.567C>T (p.Gly189=) n.305C>T c.48C>T (p.Gly16=) c.225C>T (p.Gly75=) n.693C>T n.409C>T n.392C>T c.498C>T (p.Gly166=) | |
| 20 | g.63444782G>C | CA511211547 | KCNQ2 | c.567C>G (p.Gly189=) n.305C>G c.48C>G (p.Gly16=) c.225C>G (p.Gly75=) n.693C>G n.409C>G n.392C>G c.498C>G (p.Gly166=) | |
| 20 | g.63444782G>T | CA511211548 | KCNQ2 | c.567C>A (p.Gly189=) n.305C>A c.48C>A (p.Gly16=) c.225C>A (p.Gly75=) n.693C>A n.409C>A n.392C>A c.498C>A (p.Gly166=) | gnomAD v4 |
| 20 | g.63444783C>A | CA10654828 | KCNQ2 | c.566G>T (p.Gly189Val) n.304G>T c.47G>T (p.Gly16Val) c.224G>T (p.Gly75Val) n.692G>T n.408G>T n.391G>T c.497G>T (p.Gly166Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444783C= | CA2374796183 | KCNQ2 | c.566G= (p.Gly189=) n.304G= c.47G= (p.Gly16=) c.224G= (p.Gly75=) n.692G= n.408G= n.391G= c.497G= (p.Gly166=) | |
| 20 | g.63444783C>G | CA409654869 | KCNQ2 | c.566G>C (p.Gly189Ala) n.304G>C c.47G>C (p.Gly16Ala) c.224G>C (p.Gly75Ala) n.692G>C n.408G>C n.391G>C c.497G>C (p.Gly166Ala) | |
| 20 | g.63444783C>T | CA409654870 | KCNQ2 | c.566G>A (p.Gly189Asp) n.304G>A c.47G>A (p.Gly16Asp) c.224G>A (p.Gly75Asp) n.692G>A n.408G>A n.391G>A c.497G>A (p.Gly166Asp) | ClinVar |
| 20 | g.63444784C>A | CA409654871 | KCNQ2 | c.565G>T (p.Gly189Cys) n.303G>T c.46G>T (p.Gly16Cys) c.223G>T (p.Gly75Cys) n.691G>T n.407G>T n.390G>T c.496G>T (p.Gly166Cys) | |
| 20 | g.63444784C>G | CA409654872 | KCNQ2 | c.565G>C (p.Gly189Arg) n.303G>C c.46G>C (p.Gly16Arg) c.223G>C (p.Gly75Arg) n.691G>C n.407G>C n.390G>C c.496G>C (p.Gly166Arg) | |
| 20 | g.63444784C>T | CA409654873 | KCNQ2 | c.565G>A (p.Gly189Ser) n.303G>A c.46G>A (p.Gly16Ser) c.223G>A (p.Gly75Ser) n.691G>A n.407G>A n.390G>A c.496G>A (p.Gly166Ser) | |
| 20 | g.63444785C>A | CA409654874 | KCNQ2 | c.564G>T (p.Gln188His) n.302G>T c.45G>T (p.Gln15His) c.222G>T (p.Gln74His) n.690G>T n.406G>T n.389G>T c.495G>T (p.Gln165His) | |
| 20 | g.63444785C= | CA2374796184 | KCNQ2 | c.564G= (p.Gln188=) n.302G= c.45G= (p.Gln15=) c.222G= (p.Gln74=) n.690G= n.406G= n.389G= c.495G= (p.Gln165=) | |
| 20 | g.63444785C>G | CA409654875 | KCNQ2 | c.564G>C (p.Gln188His) n.302G>C c.45G>C (p.Gln15His) c.222G>C (p.Gln74His) n.690G>C n.406G>C n.389G>C c.495G>C (p.Gln165His) | |
| 20 | g.63444785C>T | CA511211556 | KCNQ2 | c.564G>A (p.Gln188=) n.302G>A c.45G>A (p.Gln15=) c.222G>A (p.Gln74=) n.690G>A n.406G>A n.389G>A c.495G>A (p.Gln165=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63444786T>A | CA409654876 | KCNQ2 | c.563A>T (p.Gln188Leu) n.301A>T c.44A>T (p.Gln15Leu) c.221A>T (p.Gln74Leu) n.689A>T n.405A>T n.388A>T c.494A>T (p.Gln165Leu) | |
| 20 | g.63444786T>C | CA409654877 | KCNQ2 | c.563A>G (p.Gln188Arg) n.301A>G c.44A>G (p.Gln15Arg) c.221A>G (p.Gln74Arg) n.689A>G n.405A>G n.388A>G c.494A>G (p.Gln165Arg) | ClinVar |
| 20 | g.63444786T>G | CA16621791 | KCNQ2 | c.563A>C (p.Gln188Pro) n.301A>C c.44A>C (p.Gln15Pro) c.221A>C (p.Gln74Pro) n.689A>C n.405A>C n.388A>C c.494A>C (p.Gln165Pro) | ClinVar dbSNP |
| 20 | g.63444786T= | CA2374796185 | KCNQ2 | c.563A= (p.Gln188=) n.301A= c.44A= (p.Gln15=) c.221A= (p.Gln74=) n.689A= n.405A= n.388A= c.494A= (p.Gln165=) | |
| 20 | g.63444787G>A | CA409654879 | KCNQ2 | c.562C>T (p.Gln188Ter) n.300C>T c.43C>T (p.Gln15Ter) c.220C>T (p.Gln74Ter) n.688C>T n.404C>T n.387C>T c.493C>T (p.Gln165Ter) | |
| 20 | g.63444787G>C | CA409654880 | KCNQ2 | c.562C>G (p.Gln188Glu) n.300C>G c.43C>G (p.Gln15Glu) c.220C>G (p.Gln74Glu) n.688C>G n.404C>G n.387C>G c.493C>G (p.Gln165Glu) | |
| 20 | g.63444787G= | CA2374796186 | KCNQ2 | c.562C= (p.Gln188=) n.300C= c.43C= (p.Gln15=) c.220C= (p.Gln74=) n.688C= n.404C= n.387C= c.493C= (p.Gln165=) | |
| 20 | g.63444787G>T | CA409654878 | KCNQ2 | c.562C>A (p.Gln188Lys) n.300C>A c.43C>A (p.Gln15Lys) c.220C>A (p.Gln74Lys) n.688C>A n.404C>A n.387C>A c.493C>A (p.Gln165Lys) | ClinVar dbSNP |
| 20 | g.63444789del | CA2580098404 | KCNQ2 | c.562del (p.Gln188ArgfsTer21) n.300del c.43del (p.Gln15ArgfsTer21) c.220del (p.Gln74ArgfsTer21) n.688del n.404del n.387del c.493del (p.Gln165ArgfsTer21) | ClinVar |
| 20 | g.63444788G>A | CA511211566 | KCNQ2 | c.561C>T (p.Ser187=) n.299C>T c.42C>T (p.Ser14=) c.219C>T (p.Ser73=) n.687C>T n.403C>T n.386C>T c.492C>T (p.Ser164=) | gnomAD v4 |
| 20 | g.63444788G>C | CA511211568 | KCNQ2 | c.561C>G (p.Ser187=) n.299C>G c.42C>G (p.Ser14=) c.219C>G (p.Ser73=) n.687C>G n.403C>G n.386C>G c.492C>G (p.Ser164=) | |
| 20 | g.63444788G>T | CA511211570 | KCNQ2 | c.561C>A (p.Ser187=) n.299C>A c.42C>A (p.Ser14=) c.219C>A (p.Ser73=) n.687C>A n.403C>A n.386C>A c.492C>A (p.Ser164=) | |
| 20 | g.63444789G>A | CA409654881 | KCNQ2 | c.560C>T (p.Ser187Phe) n.298C>T c.41C>T (p.Ser14Phe) c.218C>T (p.Ser73Phe) n.686C>T n.402C>T n.385C>T c.491C>T (p.Ser164Phe) | ClinVar dbSNP |
| 20 | g.63444789G>C | CA409654883 | KCNQ2 | c.560C>G (p.Ser187Cys) n.298C>G c.41C>G (p.Ser14Cys) c.218C>G (p.Ser73Cys) n.686C>G n.402C>G n.385C>G c.491C>G (p.Ser164Cys) | |
| 20 | g.63444789G= | CA2374796187 | KCNQ2 | c.560C= (p.Ser187=) n.298C= c.41C= (p.Ser14=) c.218C= (p.Ser73=) n.686C= n.402C= n.385C= c.491C= (p.Ser164=) | |
| 20 | g.63444789G>T | CA409654882 | KCNQ2 | c.560C>A (p.Ser187Tyr) n.298C>A c.41C>A (p.Ser14Tyr) c.218C>A (p.Ser73Tyr) n.686C>A n.402C>A n.385C>A c.491C>A (p.Ser164Tyr) | |
| 20 | g.63444790A>C | CA409654884 | KCNQ2 | c.559T>G (p.Ser187Ala) n.297T>G c.40T>G (p.Ser14Ala) c.217T>G (p.Ser73Ala) n.685T>G n.401T>G n.384T>G c.490T>G (p.Ser164Ala) | |
| 20 | g.63444790A>G | CA409654885 | KCNQ2 | c.559T>C (p.Ser187Pro) n.297T>C c.40T>C (p.Ser14Pro) c.217T>C (p.Ser73Pro) n.685T>C n.401T>C n.384T>C c.490T>C (p.Ser164Pro) | |
| 20 | g.63444790A>T | CA409654886 | KCNQ2 | c.559T>A (p.Ser187Thr) n.297T>A c.40T>A (p.Ser14Thr) c.217T>A (p.Ser73Thr) n.685T>A n.401T>A n.384T>A c.490T>A (p.Ser164Thr) | |
| 20 | g.63444791G>A | CA511211577 | KCNQ2 | c.558C>T (p.Gly186=) n.296C>T c.39C>T (p.Gly13=) c.216C>T (p.Gly72=) n.684C>T n.400C>T n.383C>T c.489C>T (p.Gly163=) | gnomAD v4 |
| 20 | g.63444791G>C | CA511211579 | KCNQ2 | c.558C>G (p.Gly186=) n.296C>G c.39C>G (p.Gly13=) c.216C>G (p.Gly72=) n.684C>G n.400C>G n.383C>G c.489C>G (p.Gly163=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444791G= | CA2374796188 | KCNQ2 | c.558C= (p.Gly186=) n.296C= c.39C= (p.Gly13=) c.216C= (p.Gly72=) n.684C= n.400C= n.383C= c.489C= (p.Gly163=) | |
| 20 | g.63444791G>T | CA511211581 | KCNQ2 | c.558C>A (p.Gly186=) n.296C>A c.39C>A (p.Gly13=) c.216C>A (p.Gly72=) n.684C>A n.400C>A n.383C>A c.489C>A (p.Gly163=) | gnomAD v4 |
| 20 | g.63444792C>A | CA409654887 | KCNQ2 | c.557G>T (p.Gly186Val) n.295G>T c.38G>T (p.Gly13Val) c.215G>T (p.Gly72Val) n.683G>T n.399G>T n.382G>T c.488G>T (p.Gly163Val) | ClinVar |
| 20 | g.63444792C= | CA2374796189 | KCNQ2 | c.557G= (p.Gly186=) n.295G= c.38G= (p.Gly13=) c.215G= (p.Gly72=) n.683G= n.399G= n.382G= c.488G= (p.Gly163=) | |
| 20 | g.63444792C>G | CA409654888 | KCNQ2 | c.557G>C (p.Gly186Ala) n.295G>C c.38G>C (p.Gly13Ala) c.215G>C (p.Gly72Ala) n.683G>C n.399G>C n.382G>C c.488G>C (p.Gly163Ala) | |
| 20 | g.63444792C>T | CA317461931 | KCNQ2 | c.557G>A (p.Gly186Asp) n.295G>A c.38G>A (p.Gly13Asp) c.215G>A (p.Gly72Asp) n.683G>A n.399G>A n.382G>A c.488G>A (p.Gly163Asp) | dbSNP gnomAD v4 |
| 20 | g.63444793C>A | CA409654889 | KCNQ2 | c.556G>T (p.Gly186Cys) n.294G>T c.37G>T (p.Gly13Cys) c.214G>T (p.Gly72Cys) n.682G>T n.398G>T n.381G>T c.487G>T (p.Gly163Cys) | gnomAD v4 |
| 20 | g.63444793C= | CA2374796190 | KCNQ2 | c.556G= (p.Gly186=) n.294G= c.37G= (p.Gly13=) c.214G= (p.Gly72=) n.682G= n.398G= n.381G= c.487G= (p.Gly163=) | |
| 20 | g.63444793C>G | CA409654890 | KCNQ2 | c.556G>C (p.Gly186Arg) n.294G>C c.37G>C (p.Gly13Arg) c.214G>C (p.Gly72Arg) n.682G>C n.398G>C n.381G>C c.487G>C (p.Gly163Arg) | |
| 20 | g.63444793C>T | CA409654891 | KCNQ2 | c.556G>A (p.Gly186Ser) n.294G>A c.37G>A (p.Gly13Ser) c.214G>A (p.Gly72Ser) n.682G>A n.398G>A n.381G>A c.487G>A (p.Gly163Ser) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444794G>A | CA9958776 | KCNQ2 | c.555C>T (p.Ala185=) n.293C>T c.36C>T (p.Ala12=) c.213C>T (p.Ala71=) n.681C>T n.397C>T n.380C>T c.486C>T (p.Ala162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63444794G>C | CA9958777 | KCNQ2 | c.555C>G (p.Ala185=) n.293C>G c.36C>G (p.Ala12=) c.213C>G (p.Ala71=) n.681C>G n.397C>G n.380C>G c.486C>G (p.Ala162=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63444794G= | CA2374796191 | KCNQ2 | c.555C= (p.Ala185=) n.293C= c.36C= (p.Ala12=) c.213C= (p.Ala71=) n.681C= n.397C= n.380C= c.486C= (p.Ala162=) | |
| 20 | g.63444794G>T | CA511211588 | KCNQ2 | c.555C>A (p.Ala185=) n.293C>A c.36C>A (p.Ala12=) c.213C>A (p.Ala71=) n.681C>A n.397C>A n.380C>A c.486C>A (p.Ala162=) | |
| 20 | g.63444795G>A | CA409654894 | KCNQ2 | c.554C>T (p.Ala185Val) n.292C>T c.35C>T (p.Ala12Val) c.212C>T (p.Ala71Val) n.680C>T n.396C>T n.379C>T c.485C>T (p.Ala162Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444795G>C | CA409654892 | KCNQ2 | c.554C>G (p.Ala185Gly) n.292C>G c.35C>G (p.Ala12Gly) c.212C>G (p.Ala71Gly) n.680C>G n.396C>G n.379C>G c.485C>G (p.Ala162Gly) | |
| 20 | g.63444795G= | CA2374796192 | KCNQ2 | c.554C= (p.Ala185=) n.292C= c.35C= (p.Ala12=) c.212C= (p.Ala71=) n.680C= n.396C= n.379C= c.485C= (p.Ala162=) | |
| 20 | g.63444795G>T | CA409654893 | KCNQ2 | c.554C>A (p.Ala185Asp) n.292C>A c.35C>A (p.Ala12Asp) c.212C>A (p.Ala71Asp) n.680C>A n.396C>A n.379C>A c.485C>A (p.Ala162Asp) | |
| 20 | g.63444796C>A | CA409654895 | KCNQ2 | c.553G>T (p.Ala185Ser) n.291G>T c.34G>T (p.Ala12Ser) c.211G>T (p.Ala71Ser) n.679G>T n.395G>T n.378G>T c.484G>T (p.Ala162Ser) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444796C= | CA2374796193 | KCNQ2 | c.553G= (p.Ala185=) n.291G= c.34G= (p.Ala12=) c.211G= (p.Ala71=) n.679G= n.395G= n.378G= c.484G= (p.Ala162=) | |
| 20 | g.63444796C>G | CA409654896 | KCNQ2 | c.553G>C (p.Ala185Pro) n.291G>C c.34G>C (p.Ala12Pro) c.211G>C (p.Ala71Pro) n.679G>C n.395G>C n.378G>C c.484G>C (p.Ala162Pro) | |
| 20 | g.63444796C>T | CA409654897 | KCNQ2 | c.553G>A (p.Ala185Thr) n.291G>A c.34G>A (p.Ala12Thr) c.211G>A (p.Ala71Thr) n.679G>A n.395G>A n.378G>A c.484G>A (p.Ala162Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444797G>A | CA9958778 | KCNQ2 | c.552C>T (p.Ala184=) n.290C>T c.33C>T (p.Ala11=) c.210C>T (p.Ala70=) n.678C>T n.394C>T n.377C>T c.483C>T (p.Ala161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63444797G>C | CA511211597 | KCNQ2 | c.552C>G (p.Ala184=) n.290C>G c.33C>G (p.Ala11=) c.210C>G (p.Ala70=) n.678C>G n.394C>G n.377C>G c.483C>G (p.Ala161=) | |
| 20 | g.63444797G= | CA2374796194 | KCNQ2 | c.552C= (p.Ala184=) n.290C= c.33C= (p.Ala11=) c.210C= (p.Ala70=) n.678C= n.394C= n.377C= c.483C= (p.Ala161=) | |
| 20 | g.63444797G>T | CA511211599 | KCNQ2 | c.552C>A (p.Ala184=) n.290C>A c.33C>A (p.Ala11=) c.210C>A (p.Ala70=) n.678C>A n.394C>A n.377C>A c.483C>A (p.Ala161=) | |
| 20 | g.63444798G>A | CA409654898 | KCNQ2 | c.551C>T (p.Ala184Val) n.289C>T c.32C>T (p.Ala11Val) c.209C>T (p.Ala70Val) n.677C>T n.393C>T n.376C>T c.482C>T (p.Ala161Val) | |
| 20 | g.63444798G>C | CA409654899 | KCNQ2 | c.551C>G (p.Ala184Gly) n.289C>G c.32C>G (p.Ala11Gly) c.209C>G (p.Ala70Gly) n.677C>G n.393C>G n.376C>G c.482C>G (p.Ala161Gly) | |
| 20 | g.63444798G>T | CA409654900 | KCNQ2 | c.551C>A (p.Ala184Asp) n.289C>A c.32C>A (p.Ala11Asp) c.209C>A (p.Ala70Asp) n.677C>A n.393C>A n.376C>A c.482C>A (p.Ala161Asp) | |
| 20 | g.63444799C>A | CA409654901 | KCNQ2 | c.550G>T (p.Ala184Ser) n.288G>T c.31G>T (p.Ala11Ser) c.208G>T (p.Ala70Ser) n.676G>T n.392G>T n.375G>T c.481G>T (p.Ala161Ser) | gnomAD v4 |
| 20 | g.63444799C>G | CA409654902 | KCNQ2 | c.550G>C (p.Ala184Pro) n.288G>C c.31G>C (p.Ala11Pro) c.208G>C (p.Ala70Pro) n.676G>C n.392G>C n.375G>C c.481G>C (p.Ala161Pro) | |
| 20 | g.63444799C>T | CA409654903 | KCNQ2 | c.550G>A (p.Ala184Thr) n.288G>A c.31G>A (p.Ala11Thr) c.208G>A (p.Ala70Thr) n.676G>A n.392G>A n.375G>A c.481G>A (p.Ala161Thr) | gnomAD v4 |
| 20 | g.63444800del | CA2580098405 | KCNQ2 | c.550del (p.Ala184ProfsTer25) n.288del c.31del (p.Ala11ProfsTer25) c.208del (p.Ala70ProfsTer25) n.676del n.392del n.375del c.481del (p.Ala161ProfsTer25) | ClinVar |
| 20 | g.63444800C>A | CA511211608 | KCNQ2 | c.549G>T (p.Leu183=) n.287G>T c.30G>T (p.Leu10=) c.207G>T (p.Leu69=) n.675G>T n.391G>T n.374G>T c.480G>T (p.Leu160=) | gnomAD v4 |
| 20 | g.63444800C>G | CA511211610 | KCNQ2 | c.549G>C (p.Leu183=) n.287G>C c.30G>C (p.Leu10=) c.207G>C (p.Leu69=) n.675G>C n.391G>C n.374G>C c.480G>C (p.Leu160=) | |
| 20 | g.63444800C>T | CA511211606 | KCNQ2 | c.549G>A (p.Leu183=) n.287G>A c.30G>A (p.Leu10=) c.207G>A (p.Leu69=) n.675G>A n.391G>A n.374G>A c.480G>A (p.Leu160=) | gnomAD v4 |
| 20 | g.63444801A>C | CA409654905 | KCNQ2 | c.548T>G (p.Leu183Arg) n.286T>G c.29T>G (p.Leu10Arg) c.206T>G (p.Leu69Arg) n.674T>G n.390T>G n.373T>G c.479T>G (p.Leu160Arg) | |
| 20 | g.63444801A>G | CA409654906 | KCNQ2 | c.548T>C (p.Leu183Pro) n.286T>C c.29T>C (p.Leu10Pro) c.206T>C (p.Leu69Pro) n.674T>C n.390T>C n.373T>C c.479T>C (p.Leu160Pro) | |
| 20 | g.63444801A>T | CA409654904 | KCNQ2 | c.548T>A (p.Leu183Gln) n.286T>A c.29T>A (p.Leu10Gln) c.206T>A (p.Leu69Gln) n.674T>A n.390T>A n.373T>A c.479T>A (p.Leu160Gln) | |
| 20 | g.63444807_63444827dup | CA2580098406 | KCNQ2 | c.528_548dup (p.Leu183_Ala184insIleAlaSerIleAlaValLeu) n.266_286dup c.9_29dup (p.Leu10_Ala11insIleAlaSerIleAlaValLeu) c.186_206dup (p.Leu69_Ala70insIleAlaSerIleAlaValLeu) n.654_674dup n.370_390dup n.353_373dup c.459_479dup (p.Leu160_Ala161insIleAlaSerIleAlaValLeu) | ClinVar |
| 20 | g.63444802G>A | CA511211615 | KCNQ2 | c.547C>T (p.Leu183=) n.285C>T c.28C>T (p.Leu10=) c.205C>T (p.Leu69=) n.673C>T n.389C>T n.372C>T c.478C>T (p.Leu160=) | gnomAD v4 |
| 20 | g.63444802G>C | CA409654907 | KCNQ2 | c.547C>G (p.Leu183Val) n.285C>G c.28C>G (p.Leu10Val) c.205C>G (p.Leu69Val) n.673C>G n.389C>G n.372C>G c.478C>G (p.Leu160Val) | |
| 20 | g.63444802G= | CA2374796195 | KCNQ2 | c.547C= (p.Leu183=) n.285C= c.28C= (p.Leu10=) c.205C= (p.Leu69=) n.673C= n.389C= n.372C= c.478C= (p.Leu160=) | |
| 20 | g.63444802G>T | CA409654908 | KCNQ2 | c.547C>A (p.Leu183Met) n.285C>A c.28C>A (p.Leu10Met) c.205C>A (p.Leu69Met) n.673C>A n.389C>A n.372C>A c.478C>A (p.Leu160Met) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63444803C>A | CA511211621 | KCNQ2 | c.546G>T (p.Val182=) n.284G>T c.27G>T (p.Val9=) c.204G>T (p.Val68=) n.672G>T n.388G>T n.371G>T c.477G>T (p.Val159=) | |
| 20 | g.63444803C= | CA2374796196 | KCNQ2 | c.546G= (p.Val182=) n.284G= c.27G= (p.Val9=) c.204G= (p.Val68=) n.672G= n.388G= n.371G= c.477G= (p.Val159=) | |
| 20 | g.63444803C>G | CA511211618 | KCNQ2 | c.546G>C (p.Val182=) n.284G>C c.27G>C (p.Val9=) c.204G>C (p.Val68=) n.672G>C n.388G>C n.371G>C c.477G>C (p.Val159=) | |
| 20 | g.63444803C>T | CA317461948 | KCNQ2 | c.546G>A (p.Val182=) n.284G>A c.27G>A (p.Val9=) c.204G>A (p.Val68=) n.672G>A n.388G>A n.371G>A c.477G>A (p.Val159=) | dbSNP gnomAD v4 |
| 20 | g.63444804A>C | CA409654909 | KCNQ2 | c.545T>G (p.Val182Gly) n.283T>G c.26T>G (p.Val9Gly) c.203T>G (p.Val68Gly) n.671T>G n.387T>G n.370T>G c.476T>G (p.Val159Gly) | |
| 20 | g.63444804A>G | CA409654910 | KCNQ2 | c.545T>C (p.Val182Ala) n.283T>C c.26T>C (p.Val9Ala) c.203T>C (p.Val68Ala) n.671T>C n.387T>C n.370T>C c.476T>C (p.Val159Ala) | ClinVar |
| 20 | g.63444804A>T | CA409654911 | KCNQ2 | c.545T>A (p.Val182Glu) n.283T>A c.26T>A (p.Val9Glu) c.203T>A (p.Val68Glu) n.671T>A n.387T>A n.370T>A c.476T>A (p.Val159Glu) | |
| 20 | g.63444805C>A | CA409654912 | KCNQ2 | c.544G>T (p.Val182Leu) n.282G>T c.25G>T (p.Val9Leu) c.202G>T (p.Val68Leu) n.670G>T n.386G>T n.369G>T c.475G>T (p.Val159Leu) | |
| 20 | g.63444805C= | CA2374796197 | KCNQ2 | c.544G= (p.Val182=) n.282G= c.25G= (p.Val9=) c.202G= (p.Val68=) n.670G= n.386G= n.369G= c.475G= (p.Val159=) | |
| 20 | g.63444805C>G | CA409654913 | KCNQ2 | c.544G>C (p.Val182Leu) n.282G>C c.25G>C (p.Val9Leu) c.202G>C (p.Val68Leu) n.670G>C n.386G>C n.369G>C c.475G>C (p.Val159Leu) | |
| 20 | g.63444805C>T | CA409654914 | KCNQ2 | c.544G>A (p.Val182Met) n.282G>A c.25G>A (p.Val9Met) c.202G>A (p.Val68Met) n.670G>A n.386G>A n.369G>A c.475G>A (p.Val159Met) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444806C>A | CA511211632 | KCNQ2 | c.543G>T (p.Ala181=) n.281G>T c.24G>T (p.Ala8=) c.201G>T (p.Ala67=) n.669G>T n.385G>T n.368G>T c.474G>T (p.Ala158=) | gnomAD v4 |
| 20 | g.63444806C= | CA2374796198 | KCNQ2 | c.543G= (p.Ala181=) n.281G= c.24G= (p.Ala8=) c.201G= (p.Ala67=) n.669G= n.385G= n.368G= c.474G= (p.Ala158=) | |
| 20 | g.63444806C>G | CA511211631 | KCNQ2 | c.543G>C (p.Ala181=) n.281G>C c.24G>C (p.Ala8=) c.201G>C (p.Ala67=) n.669G>C n.385G>C n.368G>C c.474G>C (p.Ala158=) | |
| 20 | g.63444806C>T | CA511211629 | KCNQ2 | c.543G>A (p.Ala181=) n.281G>A c.24G>A (p.Ala8=) c.201G>A (p.Ala67=) n.669G>A n.385G>A n.368G>A c.474G>A (p.Ala158=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63444807G>A | CA409654915 | KCNQ2 | c.542C>T (p.Ala181Val) n.280C>T c.23C>T (p.Ala8Val) c.200C>T (p.Ala67Val) n.668C>T n.384C>T n.367C>T c.473C>T (p.Ala158Val) | gnomAD v4 |
| 20 | g.63444807G>C | CA409654916 | KCNQ2 | c.542C>G (p.Ala181Gly) n.280C>G c.23C>G (p.Ala8Gly) c.200C>G (p.Ala67Gly) n.668C>G n.384C>G n.367C>G c.473C>G (p.Ala158Gly) | |
| 20 | g.63444807G>T | CA409654917 | KCNQ2 | c.542C>A (p.Ala181Glu) n.280C>A c.23C>A (p.Ala8Glu) c.200C>A (p.Ala67Glu) n.668C>A n.384C>A n.367C>A c.473C>A (p.Ala158Glu) | gnomAD v4 |
| 20 | g.63444808C>A | CA409654919 | KCNQ2 | c.541G>T (p.Ala181Ser) n.279G>T c.22G>T (p.Ala8Ser) c.199G>T (p.Ala67Ser) n.667G>T n.383G>T n.366G>T c.472G>T (p.Ala158Ser) | gnomAD v4 |
| 20 | g.63444808C>G | CA409654920 | KCNQ2 | c.541G>C (p.Ala181Pro) n.279G>C c.22G>C (p.Ala8Pro) c.199G>C (p.Ala67Pro) n.667G>C n.383G>C n.366G>C c.472G>C (p.Ala158Pro) | |
| 20 | g.63444808C>T | CA409654918 | KCNQ2 | c.541G>A (p.Ala181Thr) n.279G>A c.22G>A (p.Ala8Thr) c.199G>A (p.Ala67Thr) n.667G>A n.383G>A n.366G>A c.472G>A (p.Ala158Thr) | |
| 20 | g.63444809A>C | CA409654921 | KCNQ2 | c.540T>G (p.Ile180Met) n.278T>G c.21T>G (p.Ile7Met) c.198T>G (p.Ile66Met) n.666T>G n.382T>G n.365T>G c.471T>G (p.Ile157Met) | |
| 20 | g.63444809A>G | CA511211642 | KCNQ2 | c.540T>C (p.Ile180=) n.278T>C c.21T>C (p.Ile7=) c.198T>C (p.Ile66=) n.666T>C n.382T>C n.365T>C c.471T>C (p.Ile157=) | |
| 20 | g.63444809A>T | CA511211640 | KCNQ2 | c.540T>A (p.Ile180=) n.278T>A c.21T>A (p.Ile7=) c.198T>A (p.Ile66=) n.666T>A n.382T>A n.365T>A c.471T>A (p.Ile157=) | |
| 20 | g.63444810A>C | CA409654922 | KCNQ2 | c.539T>G (p.Ile180Ser) n.277T>G c.20T>G (p.Ile7Ser) c.197T>G (p.Ile66Ser) n.665T>G n.381T>G n.364T>G c.470T>G (p.Ile157Ser) | |
| 20 | g.63444810A>G | CA409654923 | KCNQ2 | c.539T>C (p.Ile180Thr) n.277T>C c.20T>C (p.Ile7Thr) c.197T>C (p.Ile66Thr) n.665T>C n.381T>C n.364T>C c.470T>C (p.Ile157Thr) | |
| 20 | g.63444810A>T | CA409654924 | KCNQ2 | c.539T>A (p.Ile180Asn) n.277T>A c.20T>A (p.Ile7Asn) c.197T>A (p.Ile66Asn) n.665T>A n.381T>A n.364T>A c.470T>A (p.Ile157Asn) | |
| 20 | g.63444811T>A | CA409654926 | KCNQ2 | c.538A>T (p.Ile180Phe) n.276A>T c.19A>T (p.Ile7Phe) c.196A>T (p.Ile66Phe) n.664A>T n.380A>T n.363A>T c.469A>T (p.Ile157Phe) | gnomAD v4 |
| 20 | g.63444811T>C | CA9958779 | KCNQ2 | c.538A>G (p.Ile180Val) n.276A>G c.19A>G (p.Ile7Val) c.196A>G (p.Ile66Val) n.664A>G n.380A>G n.363A>G c.469A>G (p.Ile157Val) | dbSNP ExAC gnomAD v2 |
| 20 | g.63444811T>G | CA409654925 | KCNQ2 | c.538A>C (p.Ile180Leu) n.276A>C c.19A>C (p.Ile7Leu) c.196A>C (p.Ile66Leu) n.664A>C n.380A>C n.363A>C c.469A>C (p.Ile157Leu) | |
| 20 | g.63444811T= | CA2374796199 | KCNQ2 | c.538A= (p.Ile180=) n.276A= c.19A= (p.Ile7=) c.196A= (p.Ile66=) n.664A= n.380A= n.363A= c.469A= (p.Ile157=) | |
| 20 | g.63444812G>A | CA9958780 | KCNQ2 | c.537C>T (p.Ser179=) n.275C>T c.18C>T (p.Ser6=) c.195C>T (p.Ser65=) n.663C>T n.379C>T n.362C>T c.468C>T (p.Ser156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63444812G>C | CA511211650 | KCNQ2 | c.537C>G (p.Ser179=) n.275C>G c.18C>G (p.Ser6=) c.195C>G (p.Ser65=) n.663C>G n.379C>G n.362C>G c.468C>G (p.Ser156=) | |
| 20 | g.63444812G= | CA2374796200 | KCNQ2 | c.537C= (p.Ser179=) n.275C= c.18C= (p.Ser6=) c.195C= (p.Ser65=) n.663C= n.379C= n.362C= c.468C= (p.Ser156=) | |
| 20 | g.63444812G>T | CA511211652 | KCNQ2 | c.537C>A (p.Ser179=) n.275C>A c.18C>A (p.Ser6=) c.195C>A (p.Ser65=) n.663C>A n.379C>A n.362C>A c.468C>A (p.Ser156=) | |
| 20 | g.63444813G>A | CA409654927 | KCNQ2 | c.536C>T (p.Ser179Phe) n.274C>T c.17C>T (p.Ser6Phe) c.194C>T (p.Ser65Phe) n.662C>T n.378C>T n.361C>T c.467C>T (p.Ser156Phe) | |
| 20 | g.63444813G>C | CA409654928 | KCNQ2 | c.536C>G (p.Ser179Cys) n.274C>G c.17C>G (p.Ser6Cys) c.194C>G (p.Ser65Cys) n.662C>G n.378C>G n.361C>G c.467C>G (p.Ser156Cys) | |
| 20 | g.63444813G>T | CA409654929 | KCNQ2 | c.536C>A (p.Ser179Tyr) n.274C>A c.17C>A (p.Ser6Tyr) c.194C>A (p.Ser65Tyr) n.662C>A n.378C>A n.361C>A c.467C>A (p.Ser156Tyr) | |
| 20 | g.63444814A>C | CA409654930 | KCNQ2 | c.535T>G (p.Ser179Ala) n.273T>G c.16T>G (p.Ser6Ala) c.193T>G (p.Ser65Ala) n.661T>G n.377T>G n.360T>G c.466T>G (p.Ser156Ala) | |
| 20 | g.63444814A>G | CA409654931 | KCNQ2 | c.535T>C (p.Ser179Pro) n.273T>C c.16T>C (p.Ser6Pro) c.193T>C (p.Ser65Pro) n.661T>C n.377T>C n.360T>C c.466T>C (p.Ser156Pro) | gnomAD v4 |
| 20 | g.63444814A>T | CA409654932 | KCNQ2 | c.535T>A (p.Ser179Thr) n.273T>A c.16T>A (p.Ser6Thr) c.193T>A (p.Ser65Thr) n.661T>A n.377T>A n.360T>A c.466T>A (p.Ser156Thr) | |
| 20 | g.63444815G>A | CA9958781 | KCNQ2 | c.534C>T (p.Ala178=) n.272C>T c.15C>T (p.Ala5=) c.192C>T (p.Ala64=) n.660C>T n.376C>T n.359C>T c.465C>T (p.Ala155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63444815G>C | CA511211659 | KCNQ2 | c.534C>G (p.Ala178=) n.272C>G c.15C>G (p.Ala5=) c.192C>G (p.Ala64=) n.660C>G n.376C>G n.359C>G c.465C>G (p.Ala155=) | |
| 20 | g.63444815G= | CA2374796201 | KCNQ2 | c.534C= (p.Ala178=) n.272C= c.15C= (p.Ala5=) c.192C= (p.Ala64=) n.660C= n.376C= n.359C= c.465C= (p.Ala155=) | |
| 20 | g.63444815G>T | CA511211661 | KCNQ2 | c.534C>A (p.Ala178=) n.272C>A c.15C>A (p.Ala5=) c.192C>A (p.Ala64=) n.660C>A n.376C>A n.359C>A c.465C>A (p.Ala155=) | gnomAD v4 |
| 20 | g.63444816del | CA2816981043 | KCNQ2 | c.534del (p.Ser179ProfsTer?) n.272del c.15del (p.Ser6ProfsTer?) c.192del (p.Ser65ProfsTer?) n.660del n.376del n.359del c.465del (p.Ser156ProfsTer?) | |
| 20 | g.63444816G>A | CA409654934 | KCNQ2 | c.533C>T (p.Ala178Val) n.271C>T c.14C>T (p.Ala5Val) c.191C>T (p.Ala64Val) n.659C>T n.375C>T n.358C>T c.464C>T (p.Ala155Val) | ClinVar dbSNP |
| 20 | g.63444816G>C | CA409654933 | KCNQ2 | c.533C>G (p.Ala178Gly) n.271C>G c.14C>G (p.Ala5Gly) c.191C>G (p.Ala64Gly) n.659C>G n.375C>G n.358C>G c.464C>G (p.Ala155Gly) | |
| 20 | g.63444816G>T | CA409654935 | KCNQ2 | c.533C>A (p.Ala178Asp) n.271C>A c.14C>A (p.Ala5Asp) c.191C>A (p.Ala64Asp) n.659C>A n.375C>A n.358C>A c.464C>A (p.Ala155Asp) | |
| 20 | g.63444817C>A | CA409654936 | KCNQ2 | c.532G>T (p.Ala178Ser) n.270G>T c.13G>T (p.Ala5Ser) c.190G>T (p.Ala64Ser) n.658G>T n.374G>T n.357G>T c.463G>T (p.Ala155Ser) | gnomAD v4 |
| 20 | g.63444817C= | CA2374796202 | KCNQ2 | c.532G= (p.Ala178=) n.270G= c.13G= (p.Ala5=) c.190G= (p.Ala64=) n.658G= n.374G= n.357G= c.463G= (p.Ala155=) | |
| 20 | g.63444817C>G | CA409654938 | KCNQ2 | c.532G>C (p.Ala178Pro) n.270G>C c.13G>C (p.Ala5Pro) c.190G>C (p.Ala64Pro) n.658G>C n.374G>C n.357G>C c.463G>C (p.Ala155Pro) | |
| 20 | g.63444817C>T | CA409654937 | KCNQ2 | c.532G>A (p.Ala178Thr) n.270G>A c.13G>A (p.Ala5Thr) c.190G>A (p.Ala64Thr) n.658G>A n.374G>A n.357G>A c.463G>A (p.Ala155Thr) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444818G>A | CA511211670 | KCNQ2 | c.531C>T (p.Ile177=) n.269C>T c.12C>T (p.Ile4=) c.189C>T (p.Ile63=) n.657C>T n.373C>T n.356C>T c.462C>T (p.Ile154=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63444818G>C | CA409654939 | KCNQ2 | c.531C>G (p.Ile177Met) n.269C>G c.12C>G (p.Ile4Met) c.189C>G (p.Ile63Met) n.657C>G n.373C>G n.356C>G c.462C>G (p.Ile154Met) | ClinVar |
| 20 | g.63444818G= | CA2374796203 | KCNQ2 | c.531C= (p.Ile177=) n.269C= c.12C= (p.Ile4=) c.189C= (p.Ile63=) n.657C= n.373C= n.356C= c.462C= (p.Ile154=) | |
| 20 | g.63444818G>T | CA511211668 | KCNQ2 | c.531C>A (p.Ile177=) n.269C>A c.12C>A (p.Ile4=) c.189C>A (p.Ile63=) n.657C>A n.373C>A n.356C>A c.462C>A (p.Ile154=) | dbSNP |
| 20 | g.63444819A>C | CA409654941 | KCNQ2 | c.530T>G (p.Ile177Ser) n.268T>G c.11T>G (p.Ile4Ser) c.188T>G (p.Ile63Ser) n.656T>G n.372T>G n.355T>G c.461T>G (p.Ile154Ser) | |
| 20 | g.63444819A>G | CA409654940 | KCNQ2 | c.530T>C (p.Ile177Thr) n.268T>C c.11T>C (p.Ile4Thr) c.188T>C (p.Ile63Thr) n.656T>C n.372T>C n.355T>C c.461T>C (p.Ile154Thr) | gnomAD v4 |
| 20 | g.63444819A>T | CA409654942 | KCNQ2 | c.530T>A (p.Ile177Asn) n.268T>A c.11T>A (p.Ile4Asn) c.188T>A (p.Ile63Asn) n.656T>A n.372T>A n.355T>A c.461T>A (p.Ile154Asn) | |
| 20 | g.63444820T>A | CA409654943 | KCNQ2 | c.529A>T (p.Ile177Phe) n.267A>T c.10A>T (p.Ile4Phe) c.187A>T (p.Ile63Phe) n.655A>T n.371A>T n.354A>T c.460A>T (p.Ile154Phe) | |
| 20 | g.63444820T>C | CA9958782 | KCNQ2 | c.529A>G (p.Ile177Val) n.267A>G c.10A>G (p.Ile4Val) c.187A>G (p.Ile63Val) n.655A>G n.371A>G n.354A>G c.460A>G (p.Ile154Val) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 20 | g.63444820T>G | CA409654944 | KCNQ2 | c.529A>C (p.Ile177Leu) n.267A>C c.10A>C (p.Ile4Leu) c.187A>C (p.Ile63Leu) n.655A>C n.371A>C n.354A>C c.460A>C (p.Ile154Leu) | gnomAD v4 |
| 20 | g.63444820T= | CA2374796204 | KCNQ2 | c.529A= (p.Ile177=) n.267A= c.10A= (p.Ile4=) c.187A= (p.Ile63=) n.655A= n.371A= n.354A= c.460A= (p.Ile154=) | |
| 20 | g.63444821G>A | CA511211679 | KCNQ2 | c.528C>T (p.Leu176=) n.266C>T c.9C>T (p.Leu3=) c.186C>T (p.Leu62=) n.654C>T n.370C>T n.353C>T c.459C>T (p.Leu153=) | |
| 20 | g.63444821G>C | CA511211680 | KCNQ2 | c.528C>G (p.Leu176=) n.266C>G c.9C>G (p.Leu3=) c.186C>G (p.Leu62=) n.654C>G n.370C>G n.353C>G c.459C>G (p.Leu153=) | |
| 20 | g.63444821G>T | CA511211682 | KCNQ2 | c.528C>A (p.Leu176=) n.266C>A c.9C>A (p.Leu3=) c.186C>A (p.Leu62=) n.654C>A n.370C>A n.353C>A c.459C>A (p.Leu153=) | gnomAD v4 |
| 20 | g.63444822A>C | CA409654945 | KCNQ2 | c.527T>G (p.Leu176Arg) n.265T>G c.8T>G (p.Leu3Arg) c.185T>G (p.Leu62Arg) n.653T>G n.369T>G n.352T>G c.458T>G (p.Leu153Arg) | |
| 20 | g.63444822A>G | CA409654947 | KCNQ2 | c.527T>C (p.Leu176Pro) n.265T>C c.8T>C (p.Leu3Pro) c.185T>C (p.Leu62Pro) n.653T>C n.369T>C n.352T>C c.458T>C (p.Leu153Pro) | gnomAD v4 |
| 20 | g.63444822A>T | CA409654946 | KCNQ2 | c.527T>A (p.Leu176His) n.265T>A c.8T>A (p.Leu3His) c.185T>A (p.Leu62His) n.653T>A n.369T>A n.352T>A c.458T>A (p.Leu153His) | |
| 20 | g.63444823G>A | CA409654948 | KCNQ2 | c.526C>T (p.Leu176Phe) n.264C>T c.7C>T (p.Leu3Phe) c.184C>T (p.Leu62Phe) n.652C>T n.368C>T n.351C>T c.457C>T (p.Leu153Phe) | gnomAD v4 |
| 20 | g.63444823G>C | CA409654950 | KCNQ2 | c.526C>G (p.Leu176Val) n.264C>G c.7C>G (p.Leu3Val) c.184C>G (p.Leu62Val) n.652C>G n.368C>G n.351C>G c.457C>G (p.Leu153Val) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63444823G= | CA2374796205 | KCNQ2 | c.526C= (p.Leu176=) n.264C= c.7C= (p.Leu3=) c.184C= (p.Leu62=) n.652C= n.368C= n.351C= c.457C= (p.Leu153=) | |
| 20 | g.63444823G>T | CA409654949 | KCNQ2 | c.526C>A (p.Leu176Ile) n.264C>A c.7C>A (p.Leu3Ile) c.184C>A (p.Leu62Ile) n.652C>A n.368C>A n.351C>A c.457C>A (p.Leu153Ile) | |
| 20 | g.63444824C>A | CA511211690 | KCNQ2 | c.525G>T (p.Val175=) n.263G>T c.6G>T (p.Val2=) c.183G>T (p.Val61=) n.651G>T n.367G>T n.350G>T c.456G>T (p.Val152=) | gnomAD v4 |
| 20 | g.63444824C>G | CA511211692 | KCNQ2 | c.525G>C (p.Val175=) n.263G>C c.6G>C (p.Val2=) c.183G>C (p.Val61=) n.651G>C n.367G>C n.350G>C c.456G>C (p.Val152=) | |
| 20 | g.63444824C>T | CA511211693 | KCNQ2 | c.525G>A (p.Val175=) n.263G>A c.6G>A (p.Val2=) c.183G>A (p.Val61=) n.651G>A n.367G>A n.350G>A c.456G>A (p.Val152=) | gnomAD v4 |
| 20 | g.63444825A>C | CA409654951 | KCNQ2 | c.524T>G (p.Val175Gly) n.262T>G c.5T>G (p.Val2Gly) c.182T>G (p.Val61Gly) n.650T>G n.366T>G n.349T>G c.455T>G (p.Val152Gly) | |
| 20 | g.63444825A>G | CA409654953 | KCNQ2 | c.524T>C (p.Val175Ala) n.262T>C c.5T>C (p.Val2Ala) c.182T>C (p.Val61Ala) n.650T>C n.366T>C n.349T>C c.455T>C (p.Val152Ala) | |
| 20 | g.63444825A>T | CA409654952 | KCNQ2 | c.524T>A (p.Val175Glu) n.262T>A c.5T>A (p.Val2Glu) c.182T>A (p.Val61Glu) n.650T>A n.366T>A n.349T>A c.455T>A (p.Val152Glu) | |
| 20 | g.63444826C>A | CA409654954 | KCNQ2 | c.523G>T (p.Val175Leu) n.261G>T c.4G>T (p.Val2Leu) c.181G>T (p.Val61Leu) n.649G>T n.365G>T n.348G>T c.454G>T (p.Val152Leu) | ClinVar gnomAD v4 |
| 20 | g.63444826C= | CA2374796206 | KCNQ2 | c.523G= (p.Val175=) n.261G= c.4G= (p.Val2=) c.181G= (p.Val61=) n.649G= n.365G= n.348G= c.454G= (p.Val152=) | |
| 20 | g.63444826C>G | CA10654829 | KCNQ2 | c.523G>C (p.Val175Leu) n.261G>C c.4G>C (p.Val2Leu) c.181G>C (p.Val61Leu) n.649G>C n.365G>C n.348G>C c.454G>C (p.Val152Leu) | ClinVar dbSNP |
| 20 | g.63444826C>T | CA409654955 | KCNQ2 | c.523G>A (p.Val175Met) n.261G>A c.4G>A (p.Val2Met) c.181G>A (p.Val61Met) n.649G>A n.365G>A n.348G>A c.454G>A (p.Val152Met) | |
| 20 | g.63444827C>A | CA409654956 | KCNQ2 | c.522G>T (p.Met174Ile) n.260G>T c.3G>T (p.Met1Ile) c.180G>T (p.Met60Ile) n.648G>T n.364G>T n.347G>T c.453G>T (p.Met151Ile) | |
| 20 | g.63444827C>G | CA409654957 | KCNQ2 | c.522G>C (p.Met174Ile) n.260G>C c.3G>C (p.Met1Ile) c.180G>C (p.Met60Ile) n.648G>C n.364G>C n.347G>C c.453G>C (p.Met151Ile) | |
| 20 | g.63444827C>T | CA409654958 | KCNQ2 | c.522G>A (p.Met174Ile) n.260G>A c.3G>A (p.Met1Ile) c.180G>A (p.Met60Ile) n.648G>A n.364G>A n.347G>A c.453G>A (p.Met151Ile) | gnomAD v4 |
| 20 | g.63444828A>C | CA409654959 | KCNQ2 | c.521T>G (p.Met174Arg) n.259T>G c.2T>G (p.Met1Arg) c.179T>G (p.Met60Arg) n.647T>G n.363T>G n.346T>G c.452T>G (p.Met151Arg) | |
| 20 | g.63444828A>G | CA409654960 | KCNQ2 | c.521T>C (p.Met174Thr) n.259T>C c.2T>C (p.Met1Thr) c.179T>C (p.Met60Thr) n.647T>C n.363T>C n.346T>C c.452T>C (p.Met151Thr) | gnomAD v4 |
| 20 | g.63444828A>T | CA409654961 | KCNQ2 | c.521T>A (p.Met174Lys) n.259T>A c.2T>A (p.Met1Lys) c.179T>A (p.Met60Lys) n.647T>A n.363T>A n.346T>A c.452T>A (p.Met151Lys) | |
| 20 | g.63444831_63444833del | CA2580616360 | KCNQ2 | c.519_521del (p.Ile173del) n.257_259del c.-1_2del (n.-1_2del) c.177_179del (p.Ile59del) n.645_647del n.361_363del n.344_346del c.450_452del (p.Ile150del) | ClinVar |
| 20 | g.63444829T>A | CA409654962 | KCNQ2 | c.520A>T (p.Met174Leu) n.258A>T c.1A>T (p.Met1Leu) c.178A>T (p.Met60Leu) n.646A>T n.362A>T n.345A>T c.451A>T (p.Met151Leu) | gnomAD v4 |
| 20 | g.63444829T>C | CA409654963 | KCNQ2 | c.520A>G (p.Met174Val) n.258A>G c.1A>G (p.Met1Val) c.178A>G (p.Met60Val) n.646A>G n.362A>G n.345A>G c.451A>G (p.Met151Val) | gnomAD v4 |
| 20 | g.63444829T>G | CA409654964 | KCNQ2 | c.520A>C (p.Met174Leu) n.258A>C c.1A>C (p.Met1Leu) c.178A>C (p.Met60Leu) n.646A>C n.362A>C n.345A>C c.451A>C (p.Met151Leu) | |
| 20 | g.63444830G>A | CA511211707 | KCNQ2 | c.519C>T (p.Ile173=) n.257C>T c.-1C>T (n.-1C>T) c.177C>T (p.Ile59=) n.645C>T n.361C>T n.344C>T c.450C>T (p.Ile150=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63444830G>C | CA409654965 | KCNQ2 | c.519C>G (p.Ile173Met) n.257C>G c.-1C>G (n.-1C>G) c.177C>G (p.Ile59Met) n.645C>G n.361C>G n.344C>G c.450C>G (p.Ile150Met) | |
| 20 | g.63444830G= | CA2374796207 | KCNQ2 | c.519C= (p.Ile173=) n.257C= c.-1C= (n.-1C=) c.177C= (p.Ile59=) n.645C= n.361C= n.344C= c.450C= (p.Ile150=) | |
| 20 | g.63444830G>T | CA511211709 | KCNQ2 | c.519C>A (p.Ile173=) n.257C>A c.-1C>A (n.-1C>A) c.177C>A (p.Ile59=) n.645C>A n.361C>A n.344C>A c.450C>A (p.Ile150=) | |
| 20 | g.63444831A= | CA2374796208 | KCNQ2 | c.518T= (p.Ile173=) n.256T= c.-2T= (n.-2T=) c.176T= (p.Ile59=) n.644T= n.360T= n.343T= c.449T= (p.Ile150=) | |
| 20 | g.63444831A>C | CA409654966 | KCNQ2 | c.518T>G (p.Ile173Ser) n.256T>G c.-2T>G (n.-2T>G) c.176T>G (p.Ile59Ser) n.644T>G n.360T>G n.343T>G c.449T>G (p.Ile150Ser) | |
| 20 | g.63444831A>G | CA409654967 | KCNQ2 | c.518T>C (p.Ile173Thr) n.256T>C c.-2T>C (n.-2T>C) c.176T>C (p.Ile59Thr) n.644T>C n.360T>C n.343T>C c.449T>C (p.Ile150Thr) | |
| 20 | g.63444831A>T | CA409654968 | KCNQ2 | c.518T>A (p.Ile173Asn) n.256T>A c.-2T>A (n.-2T>A) c.176T>A (p.Ile59Asn) n.644T>A n.360T>A n.343T>A c.449T>A (p.Ile150Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63444831dup | CA658799390 | KCNQ2 | c.518dup (p.Met174HisfsTer?) n.256dup c.-2dup (n.-2dup) c.176dup (p.Met60HisfsTer?) n.644dup n.360dup n.343dup c.449dup (p.Met151HisfsTer?) | ClinVar dbSNP |
| 20 | g.63444832T>A | CA409654969 | KCNQ2 | c.517A>T (p.Ile173Phe) n.255A>T c.-3A>T (n.-3A>T) c.175A>T (p.Ile59Phe) n.643A>T n.359A>T n.342A>T c.448A>T (p.Ile150Phe) | |
| 20 | g.63444832T>C | CA409654970 | KCNQ2 | c.517A>G (p.Ile173Val) n.255A>G c.-3A>G (n.-3A>G) c.175A>G (p.Ile59Val) n.643A>G n.359A>G n.342A>G c.448A>G (p.Ile150Val) | |
| 20 | g.63444832T>G | CA409654971 | KCNQ2 | c.517A>C (p.Ile173Leu) n.255A>C c.-3A>C (n.-3A>C) c.175A>C (p.Ile59Leu) n.643A>C n.359A>C n.342A>C c.448A>C (p.Ile150Leu) | |
| 20 | g.63444833G>A | CA317461979 | KCNQ2 | c.516C>T (p.Asp172=) n.254C>T c.-4C>T (n.-4C>T) c.174C>T (p.Asp58=) n.642C>T n.358C>T n.341C>T c.447C>T (p.Asp149=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63444833G>C | CA409654972 | KCNQ2 | c.516C>G (p.Asp172Glu) n.254C>G c.-4C>G (n.-4C>G) c.174C>G (p.Asp58Glu) n.642C>G n.358C>G n.341C>G c.447C>G (p.Asp149Glu) | |
| 20 | g.63444833G= | CA2374796209 | KCNQ2 | c.516C= (p.Asp172=) n.254C= c.-4C= (n.-4C=) c.174C= (p.Asp58=) n.642C= n.358C= n.341C= c.447C= (p.Asp149=) | |
| 20 | g.63444833G>T | CA409654973 | KCNQ2 | c.516C>A (p.Asp172Glu) n.254C>A c.-4C>A (n.-4C>A) c.174C>A (p.Asp58Glu) n.642C>A n.358C>A n.341C>A c.447C>A (p.Asp149Glu) | |
| 20 | g.63444834T>A | CA409654974 | KCNQ2 | c.515A>T (p.Asp172Val) n.253A>T c.-5A>T (n.-5A>T) c.173A>T (p.Asp58Val) n.641A>T n.357A>T n.340A>T c.446A>T (p.Asp149Val) | |
| 20 | g.63444834T>C | CA409654975 | KCNQ2 | c.515A>G (p.Asp172Gly) n.253A>G c.-5A>G (n.-5A>G) c.173A>G (p.Asp58Gly) n.641A>G n.357A>G n.340A>G c.446A>G (p.Asp149Gly) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444834T>G | CA409654976 | KCNQ2 | c.515A>C (p.Asp172Ala) n.253A>C c.-5A>C (n.-5A>C) c.173A>C (p.Asp58Ala) n.641A>C n.357A>C n.340A>C c.446A>C (p.Asp149Ala) | |
| 20 | g.63444834T= | CA2374796210 | KCNQ2 | c.515A= (p.Asp172=) n.253A= c.-5A= (n.-5A=) c.173A= (p.Asp58=) n.641A= n.357A= n.340A= c.446A= (p.Asp149=) | |
| 20 | g.63444835C>A | CA409654978 | KCNQ2 | c.515-1G>T (n.515-1G>T) n.253-1G>T c.-5-1G>T (n.-5-1G>T) c.173-1G>T (n.173-1G>T) n.641-1G>T n.357-1G>T n.340-1G>T c.446-1G>T (n.446-1G>T) | gnomAD v4 |
| 20 | g.63444835C>G | CA409654980 | KCNQ2 | c.515-1G>C (n.515-1G>C) n.253-1G>C c.-5-1G>C (n.-5-1G>C) c.173-1G>C (n.173-1G>C) n.641-1G>C n.357-1G>C n.340-1G>C c.446-1G>C (n.446-1G>C) | |
| 20 | g.63444835C>T | CA409654977 | KCNQ2 | c.515-1G>A (n.515-1G>A) n.253-1G>A c.-5-1G>A (n.-5-1G>A) c.173-1G>A (n.173-1G>A) n.641-1G>A n.357-1G>A n.340-1G>A c.446-1G>A (n.446-1G>A) | |
| 20 | g.63444836T>A | CA409654982 | KCNQ2 | c.515-2A>T (n.515-2A>T) n.253-2A>T c.-5-2A>T (n.-5-2A>T) c.173-2A>T (n.173-2A>T) n.641-2A>T n.357-2A>T n.340-2A>T c.446-2A>T (n.446-2A>T) | |
| 20 | g.63444836T>C | CA409654984 | KCNQ2 | c.515-2A>G (n.515-2A>G) n.253-2A>G c.-5-2A>G (n.-5-2A>G) c.173-2A>G (n.173-2A>G) n.641-2A>G n.357-2A>G n.340-2A>G c.446-2A>G (n.446-2A>G) | gnomAD v4 |
| 20 | g.63444836T>G | CA409654985 | KCNQ2 | c.515-2A>C (n.515-2A>C) n.253-2A>C c.-5-2A>C (n.-5-2A>C) c.173-2A>C (n.173-2A>C) n.641-2A>C n.357-2A>C n.340-2A>C c.446-2A>C (n.446-2A>C) |