| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439599G>A | CA10654807 | KCNQ2 | c.926C>T (p.Ala309Val) n.664C>T c.407C>T (p.Ala136Val) c.584C>T (p.Ala195Val) n.1052C>T c.291C>T c.70C>T c.429C>T (p.Cys143=) n.751C>T c.800C>T (p.Ala267Val) c.857C>T (p.Ala286Val) | ClinVar dbSNP |
| 20 | g.63439599G>C | CA409652427 | KCNQ2 | c.926C>G (p.Ala309Gly) n.664C>G c.407C>G (p.Ala136Gly) c.584C>G (p.Ala195Gly) n.1052C>G c.291C>G c.70C>G c.429C>G (p.Cys143Trp) n.751C>G c.800C>G (p.Ala267Gly) c.857C>G (p.Ala286Gly) | |
| 20 | g.63439599G= | CA2374791924 | KCNQ2 | c.926C= (p.Ala309=) n.664C= c.407C= (p.Ala136=) c.584C= (p.Ala195=) n.1052C= c.291C= c.70C= c.429C= (p.Cys143=) n.751C= c.800C= (p.Ala267=) c.857C= (p.Ala286=) | |
| 20 | g.63439599G>T | CA409652428 | KCNQ2 | c.926C>A (p.Ala309Glu) n.664C>A c.407C>A (p.Ala136Glu) c.584C>A (p.Ala195Glu) n.1052C>A c.291C>A c.70C>A c.429C>A (p.Cys143Ter) n.751C>A c.800C>A (p.Ala267Glu) c.857C>A (p.Ala286Glu) | gnomAD v4 |
| 20 | g.63439600C>A | CA409652430 | KCNQ2 | c.925G>T (p.Ala309Ser) n.663G>T c.406G>T (p.Ala136Ser) c.583G>T (p.Ala195Ser) n.1051G>T c.290G>T c.69G>T c.428G>T (p.Cys143Phe) n.750G>T c.799G>T (p.Ala267Ser) c.856G>T (p.Ala286Ser) | dbSNP gnomAD v2 |
| 20 | g.63439600C= | CA2374791925 | KCNQ2 | c.925G= (p.Ala309=) n.663G= c.406G= (p.Ala136=) c.583G= (p.Ala195=) n.1051G= c.290G= c.69G= c.428G= (p.Cys143=) n.750G= c.799G= (p.Ala267=) c.856G= (p.Ala286=) | |
| 20 | g.63439600C>G | CA409652432 | KCNQ2 | c.925G>C (p.Ala309Pro) n.663G>C c.406G>C (p.Ala136Pro) c.583G>C (p.Ala195Pro) n.1051G>C c.290G>C c.69G>C c.428G>C (p.Cys143Ser) n.750G>C c.799G>C (p.Ala267Pro) c.856G>C (p.Ala286Pro) | |
| 20 | g.63439600C>T | CA409652434 | KCNQ2 | c.925G>A (p.Ala309Thr) n.663G>A c.406G>A (p.Ala136Thr) c.583G>A (p.Ala195Thr) n.1051G>A c.290G>A c.69G>A c.428G>A (p.Cys143Tyr) n.750G>A c.799G>A (p.Ala267Thr) c.856G>A (p.Ala286Thr) | |
| 20 | g.63439601A>C | CA409652435 | KCNQ2 | c.924T>G (p.Pro308=) n.662T>G c.405T>G (p.Pro135=) c.582T>G (p.Pro194=) n.1050T>G c.289T>G c.68T>G c.427T>G (p.Cys143Gly) n.749T>G c.798T>G (p.Pro266=) c.855T>G (p.Pro285=) | |
| 20 | g.63439601A>G | CA409652436 | KCNQ2 | c.924T>C (p.Pro308=) n.662T>C c.405T>C (p.Pro135=) c.582T>C (p.Pro194=) n.1050T>C c.289T>C c.68T>C c.427T>C (p.Cys143Arg) n.749T>C c.798T>C (p.Pro266=) c.855T>C (p.Pro285=) | |
| 20 | g.63439601A>T | CA409652437 | KCNQ2 | c.924T>A (p.Pro308=) n.662T>A c.405T>A (p.Pro135=) c.582T>A (p.Pro194=) n.1050T>A c.289T>A c.68T>A c.427T>A (p.Cys143Ser) n.749T>A c.798T>A (p.Pro266=) c.855T>A (p.Pro285=) | COSMIC |
| 20 | g.63439602G>A | CA409652439 | KCNQ2 | c.923C>T (p.Pro308Leu) n.661C>T c.404C>T (p.Pro135Leu) c.581C>T (p.Pro194Leu) n.1049C>T c.288C>T c.67C>T c.426C>T (p.Ala142=) n.748C>T c.797C>T (p.Pro266Leu) c.854C>T (p.Pro285Leu) | ClinVar |
| 20 | g.63439602G>C | CA409652442 | KCNQ2 | c.923C>G (p.Pro308Arg) n.661C>G c.404C>G (p.Pro135Arg) c.581C>G (p.Pro194Arg) n.1049C>G c.288C>G c.67C>G c.426C>G (p.Ala142=) n.748C>G c.797C>G (p.Pro266Arg) c.854C>G (p.Pro285Arg) | |
| 20 | g.63439602G>T | CA409652440 | KCNQ2 | c.923C>A (p.Pro308His) n.661C>A c.404C>A (p.Pro135His) c.581C>A (p.Pro194His) n.1049C>A c.288C>A c.67C>A c.426C>A (p.Ala142=) n.748C>A c.797C>A (p.Pro266His) c.854C>A (p.Pro285His) | |
| 20 | g.63439603G>A | CA409652444 | KCNQ2 | c.922C>T (p.Pro308Ser) n.660C>T c.403C>T (p.Pro135Ser) c.580C>T (p.Pro194Ser) n.1048C>T c.287C>T c.66C>T c.425C>T (p.Ala142Val) n.747C>T c.796C>T (p.Pro266Ser) c.853C>T (p.Pro285Ser) | ClinVar |
| 20 | g.63439603G>C | CA409652447 | KCNQ2 | c.922C>G (p.Pro308Ala) n.660C>G c.403C>G (p.Pro135Ala) c.580C>G (p.Pro194Ala) n.1048C>G c.287C>G c.66C>G c.425C>G (p.Ala142Gly) n.747C>G c.796C>G (p.Pro266Ala) c.853C>G (p.Pro285Ala) | |
| 20 | g.63439603G>T | CA409652446 | KCNQ2 | c.922C>A (p.Pro308Thr) n.660C>A c.403C>A (p.Pro135Thr) c.580C>A (p.Pro194Thr) n.1048C>A c.287C>A c.66C>A c.425C>A (p.Ala142Asp) n.747C>A c.796C>A (p.Pro266Thr) c.853C>A (p.Pro285Thr) | COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439604C>A | CA9958700 | KCNQ2 | c.921G>T (p.Leu307=) n.659G>T c.402G>T (p.Leu134=) c.579G>T (p.Leu193=) n.1047G>T c.286G>T c.65G>T c.424G>T (p.Ala142Ser) n.746G>T c.795G>T (p.Leu265=) c.852G>T (p.Leu284=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63439604C= | CA2374791926 | KCNQ2 | c.921G= (p.Leu307=) n.659G= c.402G= (p.Leu134=) c.579G= (p.Leu193=) n.1047G= c.286G= c.65G= c.424G= (p.Ala142=) n.746G= c.795G= (p.Leu265=) c.852G= (p.Leu284=) | |
| 20 | g.63439604C>G | CA409652449 | KCNQ2 | c.921G>C (p.Leu307=) n.659G>C c.402G>C (p.Leu134=) c.579G>C (p.Leu193=) n.1047G>C c.286G>C c.65G>C c.424G>C (p.Ala142Pro) n.746G>C c.795G>C (p.Leu265=) c.852G>C (p.Leu284=) | |
| 20 | g.63439604C>T | CA9958699 | KCNQ2 | c.921G>A (p.Leu307=) n.659G>A c.402G>A (p.Leu134=) c.579G>A (p.Leu193=) n.1047G>A c.286G>A c.65G>A c.424G>A (p.Ala142Thr) n.746G>A c.795G>A (p.Leu265=) c.852G>A (p.Leu284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63439605A>C | CA409652451 | KCNQ2 | c.920T>G (p.Leu307Arg) n.658T>G c.401T>G (p.Leu134Arg) c.578T>G (p.Leu193Arg) n.1046T>G c.285T>G c.64T>G c.423T>G (p.Ala141=) n.745T>G c.794T>G (p.Leu265Arg) c.851T>G (p.Leu284Arg) | ClinVar gnomAD v4 |
| 20 | g.63439605A>G | CA409652452 | KCNQ2 | c.920T>C (p.Leu307Pro) n.658T>C c.401T>C (p.Leu134Pro) c.578T>C (p.Leu193Pro) n.1046T>C c.285T>C c.64T>C c.423T>C (p.Ala141=) n.745T>C c.794T>C (p.Leu265Pro) c.851T>C (p.Leu284Pro) | ClinVar |
| 20 | g.63439605A>T | CA409652453 | KCNQ2 | c.920T>A (p.Leu307Gln) n.658T>A c.401T>A (p.Leu134Gln) c.578T>A (p.Leu193Gln) n.1046T>A c.285T>A c.64T>A c.423T>A (p.Ala141=) n.745T>A c.794T>A (p.Leu265Gln) c.851T>A (p.Leu284Gln) | |
| 20 | g.63439606G>A | CA409652454 | KCNQ2 | c.919C>T (p.Leu307=) n.657C>T c.400C>T (p.Leu134=) c.577C>T (p.Leu193=) n.1045C>T c.284C>T c.63C>T c.422C>T (p.Ala141Val) n.744C>T c.793C>T (p.Leu265=) c.850C>T (p.Leu284=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439606G>C | CA409652456 | KCNQ2 | c.919C>G (p.Leu307Val) n.657C>G c.400C>G (p.Leu134Val) c.577C>G (p.Leu193Val) n.1045C>G c.284C>G c.63C>G c.422C>G (p.Ala141Gly) n.744C>G c.793C>G (p.Leu265Val) c.850C>G (p.Leu284Val) | |
| 20 | g.63439606G= | CA2374791927 | KCNQ2 | c.919C= (p.Leu307=) n.657C= c.400C= (p.Leu134=) c.577C= (p.Leu193=) n.1045C= c.284C= c.63C= c.422C= (p.Ala141=) n.744C= c.793C= (p.Leu265=) c.850C= (p.Leu284=) | |
| 20 | g.63439606G>T | CA409652458 | KCNQ2 | c.919C>A (p.Leu307Met) n.657C>A c.400C>A (p.Leu134Met) c.577C>A (p.Leu193Met) n.1045C>A c.284C>A c.63C>A c.422C>A (p.Ala141Asp) n.744C>A c.793C>A (p.Leu265Met) c.850C>A (p.Leu284Met) | gnomAD v4 |
| 20 | g.63439607C>A | CA409652460 | KCNQ2 | c.918G>T (p.Ala306=) n.656G>T c.399G>T (p.Ala133=) c.576G>T (p.Ala192=) n.1044G>T c.283G>T c.62G>T c.421G>T (p.Ala141Ser) n.743G>T c.792G>T (p.Ala264=) c.849G>T (p.Ala283=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63439607C= | CA2374791928 | KCNQ2 | c.918G= (p.Ala306=) n.656G= c.399G= (p.Ala133=) c.576G= (p.Ala192=) n.1044G= c.283G= c.62G= c.421G= (p.Ala141=) n.743G= c.792G= (p.Ala264=) c.849G= (p.Ala283=) | |
| 20 | g.63439607C>G | CA409652461 | KCNQ2 | c.918G>C (p.Ala306=) n.656G>C c.399G>C (p.Ala133=) c.576G>C (p.Ala192=) n.1044G>C c.283G>C c.62G>C c.421G>C (p.Ala141Pro) n.743G>C c.792G>C (p.Ala264=) c.849G>C (p.Ala283=) | dbSNP gnomAD v2 |
| 20 | g.63439607C>T | CA9958701 | KCNQ2 | c.918G>A (p.Ala306=) n.656G>A c.399G>A (p.Ala133=) c.576G>A (p.Ala192=) n.1044G>A c.283G>A c.62G>A c.421G>A (p.Ala141Thr) n.743G>A c.792G>A (p.Ala264=) c.849G>A (p.Ala283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439608G>A | CA347954 | KCNQ2 | c.917C>T (p.Ala306Val) n.655C>T c.398C>T (p.Ala133Val) c.575C>T (p.Ala192Val) n.1043C>T c.282C>T c.61C>T c.420C>T (p.Arg140=) n.742C>T c.791C>T (p.Ala264Val) c.848C>T (p.Ala283Val) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63439608G>C | CA409652464 | KCNQ2 | c.917C>G (p.Ala306Gly) n.655C>G c.398C>G (p.Ala133Gly) c.575C>G (p.Ala192Gly) n.1043C>G c.282C>G c.61C>G c.420C>G (p.Arg140=) n.742C>G c.791C>G (p.Ala264Gly) c.848C>G (p.Ala283Gly) | |
| 20 | g.63439608G= | CA2374791929 | KCNQ2 | c.917C= (p.Ala306=) n.655C= c.398C= (p.Ala133=) c.575C= (p.Ala192=) n.1043C= c.282C= c.61C= c.420C= (p.Arg140=) n.742C= c.791C= (p.Ala264=) c.848C= (p.Ala283=) | |
| 20 | g.63439608G>T | CA409652465 | KCNQ2 | c.917C>A (p.Ala306Glu) n.655C>A c.398C>A (p.Ala133Glu) c.575C>A (p.Ala192Glu) n.1043C>A c.282C>A c.61C>A c.420C>A (p.Arg140=) n.742C>A c.791C>A (p.Ala264Glu) c.848C>A (p.Ala283Glu) | ClinVar dbSNP |
| 20 | g.63439609C>A | CA409652467 | KCNQ2 | c.916G>T (p.Ala306Ser) n.654G>T c.397G>T (p.Ala133Ser) c.574G>T (p.Ala192Ser) n.1042G>T c.281G>T c.60G>T c.419G>T (p.Arg140Leu) n.741G>T c.790G>T (p.Ala264Ser) c.847G>T (p.Ala283Ser) | |
| 20 | g.63439609C= | CA2374791930 | KCNQ2 | c.916G= (p.Ala306=) n.654G= c.397G= (p.Ala133=) c.574G= (p.Ala192=) n.1042G= c.281G= c.60G= c.419G= (p.Arg140=) n.741G= c.790G= (p.Ala264=) c.847G= (p.Ala283=) | |
| 20 | g.63439609C>G | CA315410 | KCNQ2 | c.916G>C (p.Ala306Pro) n.654G>C c.397G>C (p.Ala133Pro) c.574G>C (p.Ala192Pro) n.1042G>C c.281G>C c.60G>C c.419G>C (p.Arg140Pro) n.741G>C c.790G>C (p.Ala264Pro) c.847G>C (p.Ala283Pro) | ClinVar dbSNP |
| 20 | g.63439609C>T | CA340674 | KCNQ2 | c.916G>A (p.Ala306Thr) n.654G>A c.397G>A (p.Ala133Thr) c.574G>A (p.Ala192Thr) n.1042G>A c.281G>A c.60G>A c.419G>A (p.Arg140His) n.741G>A c.790G>A (p.Ala264Thr) c.847G>A (p.Ala283Thr) | ClinVar dbSNP |
| 20 | g.63439609_63439612delinsCGAA | CA2374791931 | KCNQ2 | c.913_916delinsTTCG (p.Phe305=) n.651_654delinsTTCG c.394_397delinsTTCG (p.Phe132=) c.571_574delinsTTCG (p.Phe191=) n.1039_1042delinsTTCG c.278_281delinsTTCG c.57_60delinsTTCG c.416_419delinsTTCG (p.Leu139=) n.738_741delinsTTCG c.787_790delinsTTCG (p.Phe263=) c.844_847delinsTTCG (p.Phe282=) | |
| 20 | g.63439610G>A | CA9958702 | KCNQ2 | c.915C>T (p.Phe305=) n.653C>T c.396C>T (p.Phe132=) c.573C>T (p.Phe191=) n.1041C>T c.280C>T c.59C>T c.418C>T (p.Arg140Cys) n.740C>T c.789C>T (p.Phe263=) c.846C>T (p.Phe282=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63439610G>C | CA409652470 | KCNQ2 | c.915C>G (p.Phe305Leu) n.653C>G c.396C>G (p.Phe132Leu) c.573C>G (p.Phe191Leu) n.1041C>G c.280C>G c.59C>G c.418C>G (p.Arg140Gly) n.740C>G c.789C>G (p.Phe263Leu) c.846C>G (p.Phe282Leu) | ClinVar dbSNP |
| 20 | g.63439610G= | CA2374791932 | KCNQ2 | c.915C= (p.Phe305=) n.653C= c.396C= (p.Phe132=) c.573C= (p.Phe191=) n.1041C= c.280C= c.59C= c.418C= (p.Arg140=) n.740C= c.789C= (p.Phe263=) c.846C= (p.Phe282=) | |
| 20 | g.63439610G>T | CA315408 | KCNQ2 | c.915C>A (p.Phe305Leu) n.653C>A c.396C>A (p.Phe132Leu) c.573C>A (p.Phe191Leu) n.1041C>A c.280C>A c.59C>A c.418C>A (p.Arg140Ser) n.740C>A c.789C>A (p.Phe263Leu) c.846C>A (p.Phe282Leu) | ClinVar dbSNP |
| 20 | g.63439614_63439616del | CA208154 | KCNQ2 | c.913_915del (p.Phe305del) n.651_653del c.394_396del (p.Phe132del) c.571_573del (p.Phe191del) n.1039_1041del c.278_280del c.57_59del c.416_418del (p.Leu139del) n.738_740del c.787_789del (p.Phe263del) c.844_846del (p.Phe282del) | ClinVar dbSNP |
| 20 | g.63439611A>C | CA409652473 | KCNQ2 | c.914T>G (p.Phe305Cys) n.652T>G c.395T>G (p.Phe132Cys) c.572T>G (p.Phe191Cys) n.1040T>G c.279T>G c.58T>G c.417T>G (p.Leu139=) n.739T>G c.788T>G (p.Phe263Cys) c.845T>G (p.Phe282Cys) | |
| 20 | g.63439611A>G | CA409652475 | KCNQ2 | c.914T>C (p.Phe305Ser) n.652T>C c.395T>C (p.Phe132Ser) c.572T>C (p.Phe191Ser) n.1040T>C c.279T>C c.58T>C c.417T>C (p.Leu139=) n.739T>C c.788T>C (p.Phe263Ser) c.845T>C (p.Phe282Ser) | ClinVar |
| 20 | g.63439611A>T | CA409652476 | KCNQ2 | c.914T>A (p.Phe305Tyr) n.652T>A c.395T>A (p.Phe132Tyr) c.572T>A (p.Phe191Tyr) n.1040T>A c.279T>A c.58T>A c.417T>A (p.Leu139=) n.739T>A c.788T>A (p.Phe263Tyr) c.845T>A (p.Phe282Tyr) | |
| 20 | g.63439612A>C | CA409652479 | KCNQ2 | c.913T>G (p.Phe305Val) n.651T>G c.394T>G (p.Phe132Val) c.571T>G (p.Phe191Val) n.1039T>G c.278T>G c.57T>G c.416T>G (p.Leu139Arg) n.738T>G c.787T>G (p.Phe263Val) c.844T>G (p.Phe282Val) |