| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132174295G>A | CA342043 | KCNQ3 | c.988C>T (p.Arg330Cys) c.628C>T (p.Arg210Cys) c.661C>T (p.Arg221Cys) c.638C>T n.766C>T c.625C>T (p.Arg209Cys) c.-169C>T (n.-169C>T) c.280C>T (p.Arg94Cys) c.766C>T (p.Arg256Cys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132174295G>C | CA372290156 | KCNQ3 | c.988C>G (p.Arg330Gly) c.628C>G (p.Arg210Gly) c.661C>G (p.Arg221Gly) c.638C>G n.766C>G c.625C>G (p.Arg209Gly) c.-169C>G (n.-169C>G) c.280C>G (p.Arg94Gly) c.766C>G (p.Arg256Gly) | |
| 8 | g.132174295G= | CA1820664030 | KCNQ3 | c.988C= (p.Arg330=) c.628C= (p.Arg210=) c.661C= (p.Arg221=) c.638C= n.766C= c.625C= (p.Arg209=) c.-169C= (n.-169C=) c.280C= (p.Arg94=) c.766C= (p.Arg256=) | |
| 8 | g.132174295G>T | CA372290157 | KCNQ3 | c.988C>A (p.Arg330Ser) c.628C>A (p.Arg210Ser) c.661C>A (p.Arg221Ser) c.638C>A n.766C>A c.625C>A (p.Arg209Ser) c.-169C>A (n.-169C>A) c.280C>A (p.Arg94Ser) c.766C>A (p.Arg256Ser) | gnomAD v4 |
| 8 | g.132174296G>A | CA463070296 | KCNQ3 | c.987C>T (p.Gly329=) c.627C>T (p.Gly209=) c.660C>T (p.Gly220=) c.637C>T n.765C>T c.624C>T (p.Gly208=) c.-170C>T (n.-170C>T) c.279C>T (p.Gly93=) c.765C>T (p.Gly255=) | gnomAD v4 |
| 8 | g.132174296G>C | CA463070297 | KCNQ3 | c.987C>G (p.Gly329=) c.627C>G (p.Gly209=) c.660C>G (p.Gly220=) c.637C>G n.765C>G c.624C>G (p.Gly208=) c.-170C>G (n.-170C>G) c.279C>G (p.Gly93=) c.765C>G (p.Gly255=) | |
| 8 | g.132174296G>T | CA463070298 | KCNQ3 | c.987C>A (p.Gly329=) c.627C>A (p.Gly209=) c.660C>A (p.Gly220=) c.637C>A n.765C>A c.624C>A (p.Gly208=) c.-170C>A (n.-170C>A) c.279C>A (p.Gly93=) c.765C>A (p.Gly255=) | gnomAD v4 |
| 8 | g.132174297C>A | CA372290158 | KCNQ3 | c.986G>T (p.Gly329Val) c.626G>T (p.Gly209Val) c.659G>T (p.Gly220Val) c.636G>T n.764G>T c.623G>T (p.Gly208Val) c.-171G>T (n.-171G>T) c.278G>T (p.Gly93Val) c.764G>T (p.Gly255Val) | gnomAD v4 |
| 8 | g.132174297C>G | CA372290159 | KCNQ3 | c.986G>C (p.Gly329Ala) c.626G>C (p.Gly209Ala) c.659G>C (p.Gly220Ala) c.636G>C n.764G>C c.623G>C (p.Gly208Ala) c.-171G>C (n.-171G>C) c.278G>C (p.Gly93Ala) c.764G>C (p.Gly255Ala) | |
| 8 | g.132174297C>T | CA372290160 | KCNQ3 | c.986G>A (p.Gly329Asp) c.626G>A (p.Gly209Asp) c.659G>A (p.Gly220Asp) c.636G>A n.764G>A c.623G>A (p.Gly208Asp) c.-171G>A (n.-171G>A) c.278G>A (p.Gly93Asp) c.764G>A (p.Gly255Asp) | gnomAD v4 |
| 8 | g.132174298C>A | CA372290163 | KCNQ3 | c.985G>T (p.Gly329Cys) c.625G>T (p.Gly209Cys) c.658G>T (p.Gly220Cys) c.635G>T n.763G>T c.622G>T (p.Gly208Cys) c.-172G>T (n.-172G>T) c.277G>T (p.Gly93Cys) c.763G>T (p.Gly255Cys) | gnomAD v4 |
| 8 | g.132174298C= | CA1820664031 | KCNQ3 | c.985G= (p.Gly329=) c.625G= (p.Gly209=) c.658G= (p.Gly220=) c.635G= n.763G= c.622G= (p.Gly208=) c.-172G= (n.-172G=) c.277G= (p.Gly93=) c.763G= (p.Gly255=) | |
| 8 | g.132174298C>G | CA372290161 | KCNQ3 | c.985G>C (p.Gly329Arg) c.625G>C (p.Gly209Arg) c.658G>C (p.Gly220Arg) c.635G>C n.763G>C c.622G>C (p.Gly208Arg) c.-172G>C (n.-172G>C) c.277G>C (p.Gly93Arg) c.763G>C (p.Gly255Arg) | |
| 8 | g.132174298C>T | CA372290162 | KCNQ3 | c.985G>A (p.Gly329Ser) c.625G>A (p.Gly209Ser) c.658G>A (p.Gly220Ser) c.635G>A n.763G>A c.622G>A (p.Gly208Ser) c.-172G>A (n.-172G>A) c.277G>A (p.Gly93Ser) c.763G>A (p.Gly255Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132174299T>A | CA372290164 | KCNQ3 | c.984A>T (p.Glu328Asp) c.624A>T (p.Glu208Asp) c.657A>T (p.Glu219Asp) c.634A>T n.762A>T c.621A>T (p.Glu207Asp) c.-173A>T (n.-173A>T) c.276A>T (p.Glu92Asp) c.762A>T (p.Glu254Asp) | |
| 8 | g.132174299T>C | CA463070299 | KCNQ3 | c.984A>G (p.Glu328=) c.624A>G (p.Glu208=) c.657A>G (p.Glu219=) c.634A>G n.762A>G c.621A>G (p.Glu207=) c.-173A>G (n.-173A>G) c.276A>G (p.Glu92=) c.762A>G (p.Glu254=) | |
| 8 | g.132174299T>G | CA372290165 | KCNQ3 | c.984A>C (p.Glu328Asp) c.624A>C (p.Glu208Asp) c.657A>C (p.Glu219Asp) c.634A>C n.762A>C c.621A>C (p.Glu207Asp) c.-173A>C (n.-173A>C) c.276A>C (p.Glu92Asp) c.762A>C (p.Glu254Asp) | |
| 8 | g.132174300T>A | CA372290166 | KCNQ3 | c.983A>T (p.Glu328Val) c.623A>T (p.Glu208Val) c.656A>T (p.Glu219Val) c.633A>T n.761A>T c.620A>T (p.Glu207Val) c.-174A>T (n.-174A>T) c.275A>T (p.Glu92Val) c.761A>T (p.Glu254Val) | |
| 8 | g.132174300T>C | CA372290167 | KCNQ3 | c.983A>G (p.Glu328Gly) c.623A>G (p.Glu208Gly) c.656A>G (p.Glu219Gly) c.633A>G n.761A>G c.620A>G (p.Glu207Gly) c.-174A>G (n.-174A>G) c.275A>G (p.Glu92Gly) c.761A>G (p.Glu254Gly) | gnomAD v4 |
| 8 | g.132174300T>G | CA372290168 | KCNQ3 | c.983A>C (p.Glu328Ala) c.623A>C (p.Glu208Ala) c.656A>C (p.Glu219Ala) c.633A>C n.761A>C c.620A>C (p.Glu207Ala) c.-174A>C (n.-174A>C) c.275A>C (p.Glu92Ala) c.761A>C (p.Glu254Ala) | |
| 8 | g.132174301C>A | CA372290169 | KCNQ3 | c.982G>T (p.Glu328Ter) c.622G>T (p.Glu208Ter) c.655G>T (p.Glu219Ter) c.632G>T n.760G>T c.619G>T (p.Glu207Ter) c.-175G>T (n.-175G>T) c.274G>T (p.Glu92Ter) c.760G>T (p.Glu254Ter) | gnomAD v4 |
| 8 | g.132174301C>G | CA372290171 | KCNQ3 | c.982G>C (p.Glu328Gln) c.622G>C (p.Glu208Gln) c.655G>C (p.Glu219Gln) c.632G>C n.760G>C c.619G>C (p.Glu207Gln) c.-175G>C (n.-175G>C) c.274G>C (p.Glu92Gln) c.760G>C (p.Glu254Gln) | |
| 8 | g.132174301C>T | CA372290170 | KCNQ3 | c.982G>A (p.Glu328Lys) c.622G>A (p.Glu208Lys) c.655G>A (p.Glu219Lys) c.632G>A n.760G>A c.619G>A (p.Glu207Lys) c.-175G>A (n.-175G>A) c.274G>A (p.Glu92Lys) c.760G>A (p.Glu254Lys) | gnomAD v4 |
| 8 | g.132174303del | CA2688627208 | KCNQ3 | c.982del (p.Glu328LysfsTer4) c.622del (p.Glu208LysfsTer4) c.655del (p.Glu219LysfsTer4) c.632del n.760del c.619del (p.Glu207LysfsTer4) c.-175del (n.-175del) c.274del (p.Glu92LysfsTer4) c.760del (p.Glu254LysfsTer4) | gnomAD v4 |
| 8 | g.132174302_132174303del | CA2688627209 | KCNQ3 | c.981_982del (p.Trp327Ter) c.621_622del (p.Trp207Ter) c.654_655del (p.Trp218Ter) c.631_632del n.759_760del c.618_619del (p.Trp206Ter) c.-176_-175del (n.-176_-175del) c.273_274del (p.Trp91Ter) c.759_760del (p.Trp253Ter) | gnomAD v4 |
| 8 | g.132174302C>A | CA372290172 | KCNQ3 | c.981G>T (p.Trp327Cys) c.621G>T (p.Trp207Cys) c.654G>T (p.Trp218Cys) c.631G>T n.759G>T c.618G>T (p.Trp206Cys) c.-176G>T (n.-176G>T) c.273G>T (p.Trp91Cys) c.759G>T (p.Trp253Cys) | gnomAD v4 |
| 8 | g.132174302C>G | CA372290173 | KCNQ3 | c.981G>C (p.Trp327Cys) c.621G>C (p.Trp207Cys) c.654G>C (p.Trp218Cys) c.631G>C n.759G>C c.618G>C (p.Trp206Cys) c.-176G>C (n.-176G>C) c.273G>C (p.Trp91Cys) c.759G>C (p.Trp253Cys) | |
| 8 | g.132174302C>T | CA372290174 | KCNQ3 | c.981G>A (p.Trp327Ter) c.621G>A (p.Trp207Ter) c.654G>A (p.Trp218Ter) c.631G>A n.759G>A c.618G>A (p.Trp206Ter) c.-176G>A (n.-176G>A) c.273G>A (p.Trp91Ter) c.759G>A (p.Trp253Ter) | gnomAD v4 COSMIC |
| 8 | g.132174303C>A | CA372290175 | KCNQ3 | c.980G>T (p.Trp327Leu) c.620G>T (p.Trp207Leu) c.653G>T (p.Trp218Leu) c.630G>T n.758G>T c.617G>T (p.Trp206Leu) c.-177G>T (n.-177G>T) c.272G>T (p.Trp91Leu) c.758G>T (p.Trp253Leu) | gnomAD v4 |
| 8 | g.132174303C>G | CA372290176 | KCNQ3 | c.980G>C (p.Trp327Ser) c.620G>C (p.Trp207Ser) c.653G>C (p.Trp218Ser) c.630G>C n.758G>C c.617G>C (p.Trp206Ser) c.-177G>C (n.-177G>C) c.272G>C (p.Trp91Ser) c.758G>C (p.Trp253Ser) | |
| 8 | g.132174303C>T | CA372290177 | KCNQ3 | c.980G>A (p.Trp327Ter) c.620G>A (p.Trp207Ter) c.653G>A (p.Trp218Ter) c.630G>A n.758G>A c.617G>A (p.Trp206Ter) c.-177G>A (n.-177G>A) c.272G>A (p.Trp91Ter) c.758G>A (p.Trp253Ter) | |
| 8 | g.132174304A>C | CA372290178 | KCNQ3 | c.979T>G (p.Trp327Gly) c.619T>G (p.Trp207Gly) c.652T>G (p.Trp218Gly) c.629T>G n.757T>G c.616T>G (p.Trp206Gly) c.-178T>G (n.-178T>G) c.271T>G (p.Trp91Gly) c.757T>G (p.Trp253Gly) | |
| 8 | g.132174304A>G | CA372290179 | KCNQ3 | c.979T>C (p.Trp327Arg) c.619T>C (p.Trp207Arg) c.652T>C (p.Trp218Arg) c.629T>C n.757T>C c.616T>C (p.Trp206Arg) c.-178T>C (n.-178T>C) c.271T>C (p.Trp91Arg) c.757T>C (p.Trp253Arg) | |
| 8 | g.132174304A>T | CA372290180 | KCNQ3 | c.979T>A (p.Trp327Arg) c.619T>A (p.Trp207Arg) c.652T>A (p.Trp218Arg) c.629T>A n.757T>A c.616T>A (p.Trp206Arg) c.-178T>A (n.-178T>A) c.271T>A (p.Trp91Arg) c.757T>A (p.Trp253Arg) | |
| 8 | g.132174305C>A | CA463070300 | KCNQ3 | c.978G>T (p.Thr326=) c.618G>T (p.Thr206=) c.651G>T (p.Thr217=) c.628G>T n.756G>T c.615G>T (p.Thr205=) c.-179G>T (n.-179G>T) c.270G>T (p.Thr90=) c.756G>T (p.Thr252=) | gnomAD v4 COSMIC |
| 8 | g.132174305C= | CA1820664032 | KCNQ3 | c.978G= (p.Thr326=) c.618G= (p.Thr206=) c.651G= (p.Thr217=) c.628G= n.756G= c.615G= (p.Thr205=) c.-179G= (n.-179G=) c.270G= (p.Thr90=) c.756G= (p.Thr252=) | |
| 8 | g.132174305C>G | CA463070301 | KCNQ3 | c.978G>C (p.Thr326=) c.618G>C (p.Thr206=) c.651G>C (p.Thr217=) c.628G>C n.756G>C c.615G>C (p.Thr205=) c.-179G>C (n.-179G>C) c.270G>C (p.Thr90=) c.756G>C (p.Thr252=) | |
| 8 | g.132174305C>T | CA4880804 | KCNQ3 | c.978G>A (p.Thr326=) c.618G>A (p.Thr206=) c.651G>A (p.Thr217=) c.628G>A n.756G>A c.615G>A (p.Thr205=) c.-179G>A (n.-179G>A) c.270G>A (p.Thr90=) c.756G>A (p.Thr252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132174306G>A | CA372290183 | KCNQ3 | c.977C>T (p.Thr326Met) c.617C>T (p.Thr206Met) c.650C>T (p.Thr217Met) c.627C>T n.755C>T c.614C>T (p.Thr205Met) c.-180C>T (n.-180C>T) c.269C>T (p.Thr90Met) c.755C>T (p.Thr252Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132174306G>C | CA372290182 | KCNQ3 | c.977C>G (p.Thr326Arg) c.617C>G (p.Thr206Arg) c.650C>G (p.Thr217Arg) c.627C>G n.755C>G c.614C>G (p.Thr205Arg) c.-180C>G (n.-180C>G) c.269C>G (p.Thr90Arg) c.755C>G (p.Thr252Arg) | |
| 8 | g.132174306G= | CA1820664033 | KCNQ3 | c.977C= (p.Thr326=) c.617C= (p.Thr206=) c.650C= (p.Thr217=) c.627C= n.755C= c.614C= (p.Thr205=) c.-180C= (n.-180C=) c.269C= (p.Thr90=) c.755C= (p.Thr252=) | |
| 8 | g.132174306G>T | CA372290181 | KCNQ3 | c.977C>A (p.Thr326Lys) c.617C>A (p.Thr206Lys) c.650C>A (p.Thr217Lys) c.627C>A n.755C>A c.614C>A (p.Thr205Lys) c.-180C>A (n.-180C>A) c.269C>A (p.Thr90Lys) c.755C>A (p.Thr252Lys) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132174307T>A | CA372290184 | KCNQ3 | c.976A>T (p.Thr326Ser) c.616A>T (p.Thr206Ser) c.649A>T (p.Thr217Ser) c.626A>T n.754A>T c.613A>T (p.Thr205Ser) c.-181A>T (n.-181A>T) c.268A>T (p.Thr90Ser) c.754A>T (p.Thr252Ser) | |
| 8 | g.132174307T>C | CA372290186 | KCNQ3 | c.976A>G (p.Thr326Ala) c.616A>G (p.Thr206Ala) c.649A>G (p.Thr217Ala) c.626A>G n.754A>G c.613A>G (p.Thr205Ala) c.-181A>G (n.-181A>G) c.268A>G (p.Thr90Ala) c.754A>G (p.Thr252Ala) | gnomAD v4 |
| 8 | g.132174307T>G | CA372290185 | KCNQ3 | c.976A>C (p.Thr326Pro) c.616A>C (p.Thr206Pro) c.649A>C (p.Thr217Pro) c.626A>C n.754A>C c.613A>C (p.Thr205Pro) c.-181A>C (n.-181A>C) c.268A>C (p.Thr90Pro) c.754A>C (p.Thr252Pro) | |
| 8 | g.132174308T>A | CA372290187 | KCNQ3 | c.975A>T (p.Lys325Asn) c.615A>T (p.Lys205Asn) c.648A>T (p.Lys216Asn) c.625A>T n.753A>T c.612A>T (p.Lys204Asn) c.-182A>T (n.-182A>T) c.267A>T (p.Lys89Asn) c.753A>T (p.Lys251Asn) | |
| 8 | g.132174308T>C | CA463070302 | KCNQ3 | c.975A>G (p.Lys325=) c.615A>G (p.Lys205=) c.648A>G (p.Lys216=) c.625A>G n.753A>G c.612A>G (p.Lys204=) c.-182A>G (n.-182A>G) c.267A>G (p.Lys89=) c.753A>G (p.Lys251=) | |
| 8 | g.132174308T>G | CA372290188 | KCNQ3 | c.975A>C (p.Lys325Asn) c.615A>C (p.Lys205Asn) c.648A>C (p.Lys216Asn) c.625A>C n.753A>C c.612A>C (p.Lys204Asn) c.-182A>C (n.-182A>C) c.267A>C (p.Lys89Asn) c.753A>C (p.Lys251Asn) | |
| 8 | g.132174309T>A | CA372290189 | KCNQ3 | c.974A>T (p.Lys325Ile) c.614A>T (p.Lys205Ile) c.647A>T (p.Lys216Ile) c.624A>T n.752A>T c.611A>T (p.Lys204Ile) c.-183A>T (n.-183A>T) c.266A>T (p.Lys89Ile) c.752A>T (p.Lys251Ile) | |
| 8 | g.132174309T>C | CA372290190 | KCNQ3 | c.974A>G (p.Lys325Arg) c.614A>G (p.Lys205Arg) c.647A>G (p.Lys216Arg) c.624A>G n.752A>G c.611A>G (p.Lys204Arg) c.-183A>G (n.-183A>G) c.266A>G (p.Lys89Arg) c.752A>G (p.Lys251Arg) |