| 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.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) | |
| 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) |