| 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 |