| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132175461A= | CA1820664513 | KCNQ3 | c.925T= (p.Trp309=) c.565T= (p.Trp189=) c.598T= (p.Trp200=) c.575T= n.703T= c.562T= (p.Trp188=) c.-232T= (n.-232T=) c.217T= (p.Trp73=) c.703T= (p.Trp235=) | |
| 8 | g.132175461A>C | CA372290308 | KCNQ3 | c.925T>G (p.Trp309Gly) c.565T>G (p.Trp189Gly) c.598T>G (p.Trp200Gly) c.575T>G n.703T>G c.562T>G (p.Trp188Gly) c.-232T>G (n.-232T>G) c.217T>G (p.Trp73Gly) c.703T>G (p.Trp235Gly) | |
| 8 | g.132175461A>G | CA342042 | KCNQ3 | c.925T>C (p.Trp309Arg) c.565T>C (p.Trp189Arg) c.598T>C (p.Trp200Arg) c.575T>C n.703T>C c.562T>C (p.Trp188Arg) c.-232T>C (n.-232T>C) c.217T>C (p.Trp73Arg) c.703T>C (p.Trp235Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132175461A>T | CA372290309 | KCNQ3 | c.925T>A (p.Trp309Arg) c.565T>A (p.Trp189Arg) c.598T>A (p.Trp200Arg) c.575T>A n.703T>A c.562T>A (p.Trp188Arg) c.-232T>A (n.-232T>A) c.217T>A (p.Trp73Arg) c.703T>A (p.Trp235Arg) | |
| 8 | g.132175462C>A | CA372290310 | KCNQ3 | c.924G>T (p.Trp308Cys) c.564G>T (p.Trp188Cys) c.597G>T (p.Trp199Cys) c.574G>T n.702G>T c.561G>T (p.Trp187Cys) c.-233G>T (n.-233G>T) c.216G>T (p.Trp72Cys) c.702G>T (p.Trp234Cys) | ClinVar |
| 8 | g.132175462C= | CA1820664514 | KCNQ3 | c.924G= (p.Trp308=) c.564G= (p.Trp188=) c.597G= (p.Trp199=) c.574G= n.702G= c.561G= (p.Trp187=) c.-233G= (n.-233G=) c.216G= (p.Trp72=) c.702G= (p.Trp234=) | |
| 8 | g.132175462C>G | CA372290312 | KCNQ3 | c.924G>C (p.Trp308Cys) c.564G>C (p.Trp188Cys) c.597G>C (p.Trp199Cys) c.574G>C n.702G>C c.561G>C (p.Trp187Cys) c.-233G>C (n.-233G>C) c.216G>C (p.Trp72Cys) c.702G>C (p.Trp234Cys) | |
| 8 | g.132175462C>T | CA372290311 | KCNQ3 | c.924G>A (p.Trp308Ter) c.564G>A (p.Trp188Ter) c.597G>A (p.Trp199Ter) c.574G>A n.702G>A c.561G>A (p.Trp187Ter) c.-233G>A (n.-233G>A) c.216G>A (p.Trp72Ter) c.702G>A (p.Trp234Ter) | ClinVar dbSNP |
| 8 | g.132175463C>A | CA372290313 | KCNQ3 | c.923G>T (p.Trp308Leu) c.563G>T (p.Trp188Leu) c.596G>T (p.Trp199Leu) c.573G>T n.701G>T c.560G>T (p.Trp187Leu) c.-234G>T (n.-234G>T) c.215G>T (p.Trp72Leu) c.701G>T (p.Trp234Leu) | |
| 8 | g.132175463C= | CA1820664515 | KCNQ3 | c.923G= (p.Trp308=) c.563G= (p.Trp188=) c.596G= (p.Trp199=) c.573G= n.701G= c.560G= (p.Trp187=) c.-234G= (n.-234G=) c.215G= (p.Trp72=) c.701G= (p.Trp234=) | |
| 8 | g.132175463C>G | CA16618600 | KCNQ3 | c.923G>C (p.Trp308Ser) c.563G>C (p.Trp188Ser) c.596G>C (p.Trp199Ser) c.573G>C n.701G>C c.560G>C (p.Trp187Ser) c.-234G>C (n.-234G>C) c.215G>C (p.Trp72Ser) c.701G>C (p.Trp234Ser) | ClinVar dbSNP |
| 8 | g.132175463C>T | CA372290314 | KCNQ3 | c.923G>A (p.Trp308Ter) c.563G>A (p.Trp188Ter) c.596G>A (p.Trp199Ter) c.573G>A n.701G>A c.560G>A (p.Trp187Ter) c.-234G>A (n.-234G>A) c.215G>A (p.Trp72Ter) c.701G>A (p.Trp234Ter) | |
| 8 | g.132175464A>C | CA372290315 | KCNQ3 | c.922T>G (p.Trp308Gly) c.562T>G (p.Trp188Gly) c.595T>G (p.Trp199Gly) c.572T>G n.700T>G c.559T>G (p.Trp187Gly) c.-235T>G (n.-235T>G) c.214T>G (p.Trp72Gly) c.700T>G (p.Trp234Gly) | |
| 8 | g.132175464A>G | CA372290316 | KCNQ3 | c.922T>C (p.Trp308Arg) c.562T>C (p.Trp188Arg) c.595T>C (p.Trp199Arg) c.572T>C n.700T>C c.559T>C (p.Trp187Arg) c.-235T>C (n.-235T>C) c.214T>C (p.Trp72Arg) c.700T>C (p.Trp234Arg) | |
| 8 | g.132175464A>T | CA372290317 | KCNQ3 | c.922T>A (p.Trp308Arg) c.562T>A (p.Trp188Arg) c.595T>A (p.Trp199Arg) c.572T>A n.700T>A c.559T>A (p.Trp187Arg) c.-235T>A (n.-235T>A) c.214T>A (p.Trp72Arg) c.700T>A (p.Trp234Arg) | |
| 8 | g.132175465C>A | CA463070350 | KCNQ3 | c.921G>T (p.Leu307=) c.561G>T (p.Leu187=) c.594G>T (p.Leu198=) c.571G>T n.699G>T c.558G>T (p.Leu186=) c.-236G>T (n.-236G>T) c.213G>T (p.Leu71=) c.699G>T (p.Leu233=) | |
| 8 | g.132175465C= | CA1820664516 | KCNQ3 | c.921G= (p.Leu307=) c.561G= (p.Leu187=) c.594G= (p.Leu198=) c.571G= n.699G= c.558G= (p.Leu186=) c.-236G= (n.-236G=) c.213G= (p.Leu71=) c.699G= (p.Leu233=) | |
| 8 | g.132175465C>G | CA463070351 | KCNQ3 | c.921G>C (p.Leu307=) c.561G>C (p.Leu187=) c.594G>C (p.Leu198=) c.571G>C n.699G>C c.558G>C (p.Leu186=) c.-236G>C (n.-236G>C) c.213G>C (p.Leu71=) c.699G>C (p.Leu233=) | dbSNP |
| 8 | g.132175465C>T | CA186223483 | KCNQ3 | c.921G>A (p.Leu307=) c.561G>A (p.Leu187=) c.594G>A (p.Leu198=) c.571G>A n.699G>A c.558G>A (p.Leu186=) c.-236G>A (n.-236G>A) c.213G>A (p.Leu71=) c.699G>A (p.Leu233=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132175466A>C | CA372290318 | KCNQ3 | c.920T>G (p.Leu307Arg) c.560T>G (p.Leu187Arg) c.593T>G (p.Leu198Arg) c.570T>G n.698T>G c.557T>G (p.Leu186Arg) c.-237T>G (n.-237T>G) c.212T>G (p.Leu71Arg) c.698T>G (p.Leu233Arg) | |
| 8 | g.132175466A>G | CA372290319 | KCNQ3 | c.920T>C (p.Leu307Pro) c.560T>C (p.Leu187Pro) c.593T>C (p.Leu198Pro) c.570T>C n.698T>C c.557T>C (p.Leu186Pro) c.-237T>C (n.-237T>C) c.212T>C (p.Leu71Pro) c.698T>C (p.Leu233Pro) | |
| 8 | g.132175466A>T | CA372290320 | KCNQ3 | c.920T>A (p.Leu307Gln) c.560T>A (p.Leu187Gln) c.593T>A (p.Leu198Gln) c.570T>A n.698T>A c.557T>A (p.Leu186Gln) c.-237T>A (n.-237T>A) c.212T>A (p.Leu71Gln) c.698T>A (p.Leu233Gln) | |
| 8 | g.132175467G>A | CA463070353 | KCNQ3 | c.919C>T (p.Leu307=) c.559C>T (p.Leu187=) c.592C>T (p.Leu198=) c.569C>T n.697C>T c.556C>T (p.Leu186=) c.-238C>T (n.-238C>T) c.211C>T (p.Leu71=) c.697C>T (p.Leu233=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132175467G>C | CA372290321 | KCNQ3 | c.919C>G (p.Leu307Val) c.559C>G (p.Leu187Val) c.592C>G (p.Leu198Val) c.569C>G n.697C>G c.556C>G (p.Leu186Val) c.-238C>G (n.-238C>G) c.211C>G (p.Leu71Val) c.697C>G (p.Leu233Val) | |
| 8 | g.132175467G= | CA1820664517 | KCNQ3 | c.919C= (p.Leu307=) c.559C= (p.Leu187=) c.592C= (p.Leu198=) c.569C= n.697C= c.556C= (p.Leu186=) c.-238C= (n.-238C=) c.211C= (p.Leu71=) c.697C= (p.Leu233=) | |
| 8 | g.132175467G>T | CA372290322 | KCNQ3 | c.919C>A (p.Leu307Met) c.559C>A (p.Leu187Met) c.592C>A (p.Leu198Met) c.569C>A n.697C>A c.556C>A (p.Leu186Met) c.-238C>A (n.-238C>A) c.211C>A (p.Leu71Met) c.697C>A (p.Leu233Met) | |
| 8 | g.132175468G>A | CA186223484 | KCNQ3 | c.918C>T (p.Ala306=) c.558C>T (p.Ala186=) c.591C>T (p.Ala197=) c.568C>T n.696C>T c.555C>T (p.Ala185=) c.-239C>T (n.-239C>T) c.210C>T (p.Ala70=) c.696C>T (p.Ala232=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132175468G>C | CA463070354 | KCNQ3 | c.918C>G (p.Ala306=) c.558C>G (p.Ala186=) c.591C>G (p.Ala197=) c.568C>G n.696C>G c.555C>G (p.Ala185=) c.-239C>G (n.-239C>G) c.210C>G (p.Ala70=) c.696C>G (p.Ala232=) | |
| 8 | g.132175468G= | CA1820664518 | KCNQ3 | c.918C= (p.Ala306=) c.558C= (p.Ala186=) c.591C= (p.Ala197=) c.568C= n.696C= c.555C= (p.Ala185=) c.-239C= (n.-239C=) c.210C= (p.Ala70=) c.696C= (p.Ala232=) | |
| 8 | g.132175468G>T | CA463070355 | KCNQ3 | c.918C>A (p.Ala306=) c.558C>A (p.Ala186=) c.591C>A (p.Ala197=) c.568C>A n.696C>A c.555C>A (p.Ala185=) c.-239C>A (n.-239C>A) c.210C>A (p.Ala70=) c.696C>A (p.Ala232=) | |
| 8 | g.132175469G>A | CA315599 | KCNQ3 | c.917C>T (p.Ala306Val) c.557C>T (p.Ala186Val) c.590C>T (p.Ala197Val) c.567C>T n.695C>T c.554C>T (p.Ala185Val) c.-240C>T (n.-240C>T) c.209C>T (p.Ala70Val) c.695C>T (p.Ala232Val) | ClinVar dbSNP |
| 8 | g.132175469G>C | CA372290323 | KCNQ3 | c.917C>G (p.Ala306Gly) c.557C>G (p.Ala186Gly) c.590C>G (p.Ala197Gly) c.567C>G n.695C>G c.554C>G (p.Ala185Gly) c.-240C>G (n.-240C>G) c.209C>G (p.Ala70Gly) c.695C>G (p.Ala232Gly) | |
| 8 | g.132175469G= | CA1820664519 | KCNQ3 | c.917C= (p.Ala306=) c.557C= (p.Ala186=) c.590C= (p.Ala197=) c.567C= n.695C= c.554C= (p.Ala185=) c.-240C= (n.-240C=) c.209C= (p.Ala70=) c.695C= (p.Ala232=) | |
| 8 | g.132175469G>T | CA372290324 | KCNQ3 | c.917C>A (p.Ala306Asp) c.557C>A (p.Ala186Asp) c.590C>A (p.Ala197Asp) c.567C>A n.695C>A c.554C>A (p.Ala185Asp) c.-240C>A (n.-240C>A) c.209C>A (p.Ala70Asp) c.695C>A (p.Ala232Asp) | |
| 8 | g.132175470C>A | CA372290325 | KCNQ3 | c.916G>T (p.Ala306Ser) c.556G>T (p.Ala186Ser) c.589G>T (p.Ala197Ser) c.566G>T n.694G>T c.553G>T (p.Ala185Ser) c.-241G>T (n.-241G>T) c.208G>T (p.Ala70Ser) c.694G>T (p.Ala232Ser) | |
| 8 | g.132175470C= | CA1820664520 | KCNQ3 | c.916G= (p.Ala306=) c.556G= (p.Ala186=) c.589G= (p.Ala197=) c.566G= n.694G= c.553G= (p.Ala185=) c.-241G= (n.-241G=) c.208G= (p.Ala70=) c.694G= (p.Ala232=) | |
| 8 | g.132175470C>G | CA372290326 | KCNQ3 | c.916G>C (p.Ala306Pro) c.556G>C (p.Ala186Pro) c.589G>C (p.Ala197Pro) c.566G>C n.694G>C c.553G>C (p.Ala185Pro) c.-241G>C (n.-241G>C) c.208G>C (p.Ala70Pro) c.694G>C (p.Ala232Pro) | |
| 8 | g.132175470C>T | CA372290327 | KCNQ3 | c.916G>A (p.Ala306Thr) c.556G>A (p.Ala186Thr) c.589G>A (p.Ala197Thr) c.566G>A n.694G>A c.553G>A (p.Ala185Thr) c.-241G>A (n.-241G>A) c.208G>A (p.Ala70Thr) c.694G>A (p.Ala232Thr) | ClinVar dbSNP |
| 8 | g.132175471A>C | CA372290328 | KCNQ3 | c.915T>G (p.Asp305Glu) c.555T>G (p.Asp185Glu) c.588T>G (p.Asp196Glu) c.565T>G n.693T>G c.552T>G (p.Asp184Glu) c.-242T>G (n.-242T>G) c.207T>G (p.Asp69Glu) c.693T>G (p.Asp231Glu) | |
| 8 | g.132175471A>G | CA463070356 | KCNQ3 | c.915T>C (p.Asp305=) c.555T>C (p.Asp185=) c.588T>C (p.Asp196=) c.565T>C n.693T>C c.552T>C (p.Asp184=) c.-242T>C (n.-242T>C) c.207T>C (p.Asp69=) c.693T>C (p.Asp231=) | |
| 8 | g.132175471A>T | CA372290329 | KCNQ3 | c.915T>A (p.Asp305Glu) c.555T>A (p.Asp185Glu) c.588T>A (p.Asp196Glu) c.565T>A n.693T>A c.552T>A (p.Asp184Glu) c.-242T>A (n.-242T>A) c.207T>A (p.Asp69Glu) c.693T>A (p.Asp231Glu) | |
| 8 | g.132175472T>A | CA372290330 | KCNQ3 | c.914A>T (p.Asp305Val) c.554A>T (p.Asp185Val) c.587A>T (p.Asp196Val) c.564A>T n.692A>T c.551A>T (p.Asp184Val) c.-243A>T (n.-243A>T) c.206A>T (p.Asp69Val) c.692A>T (p.Asp231Val) | ClinVar dbSNP |
| 8 | g.132175472T>C | CA342041 | KCNQ3 | c.914A>G (p.Asp305Gly) c.554A>G (p.Asp185Gly) c.587A>G (p.Asp196Gly) c.564A>G n.692A>G c.551A>G (p.Asp184Gly) c.-243A>G (n.-243A>G) c.206A>G (p.Asp69Gly) c.692A>G (p.Asp231Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.132175472T>G | CA372290331 | KCNQ3 | c.914A>C (p.Asp305Ala) c.554A>C (p.Asp185Ala) c.587A>C (p.Asp196Ala) c.564A>C n.692A>C c.551A>C (p.Asp184Ala) c.-243A>C (n.-243A>C) c.206A>C (p.Asp69Ala) c.692A>C (p.Asp231Ala) | |
| 8 | g.132175472T= | CA1820664521 | KCNQ3 | c.914A= (p.Asp305=) c.554A= (p.Asp185=) c.587A= (p.Asp196=) c.564A= n.692A= c.551A= (p.Asp184=) c.-243A= (n.-243A=) c.206A= (p.Asp69=) c.692A= (p.Asp231=) | |
| 8 | g.132175473C>A | CA372290332 | KCNQ3 | c.913G>T (p.Asp305Tyr) c.553G>T (p.Asp185Tyr) c.586G>T (p.Asp196Tyr) c.563G>T n.691G>T c.550G>T (p.Asp184Tyr) c.-244G>T (n.-244G>T) c.205G>T (p.Asp69Tyr) c.691G>T (p.Asp231Tyr) | ClinVar dbSNP |
| 8 | g.132175473C= | CA1820664522 | KCNQ3 | c.913G= (p.Asp305=) c.553G= (p.Asp185=) c.586G= (p.Asp196=) c.563G= n.691G= c.550G= (p.Asp184=) c.-244G= (n.-244G=) c.205G= (p.Asp69=) c.691G= (p.Asp231=) | |
| 8 | g.132175473C>G | CA372290333 | KCNQ3 | c.913G>C (p.Asp305His) c.553G>C (p.Asp185His) c.586G>C (p.Asp196His) c.563G>C n.691G>C c.550G>C (p.Asp184His) c.-244G>C (n.-244G>C) c.205G>C (p.Asp69His) c.691G>C (p.Asp231His) | |
| 8 | g.132175473C>T | CA372290334 | KCNQ3 | c.913G>A (p.Asp305Asn) c.553G>A (p.Asp185Asn) c.586G>A (p.Asp196Asn) c.563G>A n.691G>A c.550G>A (p.Asp184Asn) c.-244G>A (n.-244G>A) c.205G>A (p.Asp69Asn) c.691G>A (p.Asp231Asn) | |
| 8 | g.132175474T>A | CA463070357 | KCNQ3 | c.912A>T (p.Ala304=) c.552A>T (p.Ala184=) c.585A>T (p.Ala195=) c.562A>T n.690A>T c.549A>T (p.Ala183=) c.-245A>T (n.-245A>T) c.204A>T (p.Ala68=) c.690A>T (p.Ala230=) |