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 |
|---|---|---|---|---|---|
| 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) | |
| 8 | g.132174309T>G | CA372290191 | KCNQ3 | c.974A>C (p.Lys325Thr) c.614A>C (p.Lys205Thr) c.647A>C (p.Lys216Thr) c.624A>C n.752A>C c.611A>C (p.Lys204Thr) c.-183A>C (n.-183A>C) c.266A>C (p.Lys89Thr) c.752A>C (p.Lys251Thr) | |
| 8 | g.132174310T>A | CA372290192 | KCNQ3 | c.973A>T (p.Lys325Ter) c.613A>T (p.Lys205Ter) c.646A>T (p.Lys216Ter) c.623A>T n.751A>T c.610A>T (p.Lys204Ter) c.-184A>T (n.-184A>T) c.265A>T (p.Lys89Ter) c.751A>T (p.Lys251Ter) | |
| 8 | g.132174310T>C | CA372290193 | KCNQ3 | c.973A>G (p.Lys325Glu) c.613A>G (p.Lys205Glu) c.646A>G (p.Lys216Glu) c.623A>G n.751A>G c.610A>G (p.Lys204Glu) c.-184A>G (n.-184A>G) c.265A>G (p.Lys89Glu) c.751A>G (p.Lys251Glu) | |
| 8 | g.132174310T>G | CA372290194 | KCNQ3 | c.973A>C (p.Lys325Gln) c.613A>C (p.Lys205Gln) c.646A>C (p.Lys216Gln) c.623A>C n.751A>C c.610A>C (p.Lys204Gln) c.-184A>C (n.-184A>C) c.265A>C (p.Lys89Gln) c.751A>C (p.Lys251Gln) | |
| 8 | g.132174311G>A | CA463070303 | KCNQ3 | c.972C>T (p.Pro324=) c.612C>T (p.Pro204=) c.645C>T (p.Pro215=) c.622C>T n.750C>T c.609C>T (p.Pro203=) c.-185C>T (n.-185C>T) c.264C>T (p.Pro88=) c.750C>T (p.Pro250=) | gnomAD v4 |
| 8 | g.132174311G>C | CA463070304 | KCNQ3 | c.972C>G (p.Pro324=) c.612C>G (p.Pro204=) c.645C>G (p.Pro215=) c.622C>G n.750C>G c.609C>G (p.Pro203=) c.-185C>G (n.-185C>G) c.264C>G (p.Pro88=) c.750C>G (p.Pro250=) | |
| 8 | g.132174311G>T | CA463070305 | KCNQ3 | c.972C>A (p.Pro324=) c.612C>A (p.Pro204=) c.645C>A (p.Pro215=) c.622C>A n.750C>A c.609C>A (p.Pro203=) c.-185C>A (n.-185C>A) c.264C>A (p.Pro88=) c.750C>A (p.Pro250=) | gnomAD v4 |
| 8 | g.132174312G>A | CA372290195 | KCNQ3 | c.971C>T (p.Pro324Leu) c.611C>T (p.Pro204Leu) c.644C>T (p.Pro215Leu) c.621C>T n.749C>T c.608C>T (p.Pro203Leu) c.-186C>T (n.-186C>T) c.263C>T (p.Pro88Leu) c.749C>T (p.Pro250Leu) | ClinVar gnomAD v4 |
| 8 | g.132174312G>C | CA372290196 | KCNQ3 | c.971C>G (p.Pro324Arg) c.611C>G (p.Pro204Arg) c.644C>G (p.Pro215Arg) c.621C>G n.749C>G c.608C>G (p.Pro203Arg) c.-186C>G (n.-186C>G) c.263C>G (p.Pro88Arg) c.749C>G (p.Pro250Arg) | |
| 8 | g.132174312G>T | CA372290197 | KCNQ3 | c.971C>A (p.Pro324His) c.611C>A (p.Pro204His) c.644C>A (p.Pro215His) c.621C>A n.749C>A c.608C>A (p.Pro203His) c.-186C>A (n.-186C>A) c.263C>A (p.Pro88His) c.749C>A (p.Pro250His) | gnomAD v4 |
| 8 | g.132174313G>A | CA372290200 | KCNQ3 | c.970C>T (p.Pro324Ser) c.610C>T (p.Pro204Ser) c.643C>T (p.Pro215Ser) c.620C>T n.748C>T c.607C>T (p.Pro203Ser) c.-187C>T (n.-187C>T) c.262C>T (p.Pro88Ser) c.748C>T (p.Pro250Ser) | gnomAD v4 |
| 8 | g.132174313G>C | CA372290198 | KCNQ3 | c.970C>G (p.Pro324Ala) c.610C>G (p.Pro204Ala) c.643C>G (p.Pro215Ala) c.620C>G n.748C>G c.607C>G (p.Pro203Ala) c.-187C>G (n.-187C>G) c.262C>G (p.Pro88Ala) c.748C>G (p.Pro250Ala) | ClinVar dbSNP |
| 8 | g.132174313G= | CA1820664034 | KCNQ3 | c.970C= (p.Pro324=) c.610C= (p.Pro204=) c.643C= (p.Pro215=) c.620C= n.748C= c.607C= (p.Pro203=) c.-187C= (n.-187C=) c.262C= (p.Pro88=) c.748C= (p.Pro250=) | |
| 8 | g.132174313G>T | CA372290199 | KCNQ3 | c.970C>A (p.Pro324Thr) c.610C>A (p.Pro204Thr) c.643C>A (p.Pro215Thr) c.620C>A n.748C>A c.607C>A (p.Pro203Thr) c.-187C>A (n.-187C>A) c.262C>A (p.Pro88Thr) c.748C>A (p.Pro250Thr) |