| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.132175457C>A | CA340677 | KCNQ3 | c.929G>T (p.Gly310Val) c.569G>T (p.Gly190Val) c.602G>T (p.Gly201Val) c.579G>T n.707G>T c.566G>T (p.Gly189Val) c.-228G>T (n.-228G>T) c.221G>T (p.Gly74Val) c.707G>T (p.Gly236Val) | ClinVar dbSNP |
| 8 | g.132175457C= | CA1820664512 | KCNQ3 | c.929G= (p.Gly310=) c.569G= (p.Gly190=) c.602G= (p.Gly201=) c.579G= n.707G= c.566G= (p.Gly189=) c.-228G= (n.-228G=) c.221G= (p.Gly74=) c.707G= (p.Gly236=) | |
| 8 | g.132175457C>G | CA372290297 | KCNQ3 | c.929G>C (p.Gly310Ala) c.569G>C (p.Gly190Ala) c.602G>C (p.Gly201Ala) c.579G>C n.707G>C c.566G>C (p.Gly189Ala) c.-228G>C (n.-228G>C) c.221G>C (p.Gly74Ala) c.707G>C (p.Gly236Ala) | |
| 8 | g.132175457C>T | CA372290298 | KCNQ3 | c.929G>A (p.Gly310Asp) c.569G>A (p.Gly190Asp) c.602G>A (p.Gly201Asp) c.579G>A n.707G>A c.566G>A (p.Gly189Asp) c.-228G>A (n.-228G>A) c.221G>A (p.Gly74Asp) c.707G>A (p.Gly236Asp) | ClinVar dbSNP |
| 8 | g.132175458C>A | CA372290299 | KCNQ3 | c.928G>T (p.Gly310Cys) c.568G>T (p.Gly190Cys) c.601G>T (p.Gly201Cys) c.578G>T n.706G>T c.565G>T (p.Gly189Cys) c.-229G>T (n.-229G>T) c.220G>T (p.Gly74Cys) c.706G>T (p.Gly236Cys) | |
| 8 | g.132175458C>G | CA372290300 | KCNQ3 | c.928G>C (p.Gly310Arg) c.568G>C (p.Gly190Arg) c.601G>C (p.Gly201Arg) c.578G>C n.706G>C c.565G>C (p.Gly189Arg) c.-229G>C (n.-229G>C) c.220G>C (p.Gly74Arg) c.706G>C (p.Gly236Arg) | COSMIC |
| 8 | g.132175458C>T | CA372290301 | KCNQ3 | c.928G>A (p.Gly310Ser) c.568G>A (p.Gly190Ser) c.601G>A (p.Gly201Ser) c.578G>A n.706G>A c.565G>A (p.Gly189Ser) c.-229G>A (n.-229G>A) c.220G>A (p.Gly74Ser) c.706G>A (p.Gly236Ser) | |
| 8 | g.132175459C>A | CA372290302 | KCNQ3 | c.927G>T (p.Trp309Cys) c.567G>T (p.Trp189Cys) c.600G>T (p.Trp200Cys) c.577G>T n.705G>T c.564G>T (p.Trp188Cys) c.-230G>T (n.-230G>T) c.219G>T (p.Trp73Cys) c.705G>T (p.Trp235Cys) | |
| 8 | g.132175459C>G | CA372290303 | KCNQ3 | c.927G>C (p.Trp309Cys) c.567G>C (p.Trp189Cys) c.600G>C (p.Trp200Cys) c.577G>C n.705G>C c.564G>C (p.Trp188Cys) c.-230G>C (n.-230G>C) c.219G>C (p.Trp73Cys) c.705G>C (p.Trp235Cys) | |
| 8 | g.132175459C>T | CA372290304 | KCNQ3 | c.927G>A (p.Trp309Ter) c.567G>A (p.Trp189Ter) c.600G>A (p.Trp200Ter) c.577G>A n.705G>A c.564G>A (p.Trp188Ter) c.-230G>A (n.-230G>A) c.219G>A (p.Trp73Ter) c.705G>A (p.Trp235Ter) | |
| 8 | g.132175459_132175460delinsTT | CA645546527 | KCNQ3 | c.926_927delinsAA (p.Trp309Ter) c.566_567delinsAA (p.Trp189Ter) c.599_600delinsAA (p.Trp200Ter) c.576_577delinsAA n.704_705delinsAA c.563_564delinsAA (p.Trp188Ter) c.-231_-230delinsAA (n.-231_-230delinsAA) c.218_219delinsAA (p.Trp73Ter) c.704_705delinsAA (p.Trp235Ter) | COSMIC |
| 8 | g.132175460C>A | CA372290305 | KCNQ3 | c.926G>T (p.Trp309Leu) c.566G>T (p.Trp189Leu) c.599G>T (p.Trp200Leu) c.576G>T n.704G>T c.563G>T (p.Trp188Leu) c.-231G>T (n.-231G>T) c.218G>T (p.Trp73Leu) c.704G>T (p.Trp235Leu) | |
| 8 | g.132175460C>G | CA372290307 | KCNQ3 | c.926G>C (p.Trp309Ser) c.566G>C (p.Trp189Ser) c.599G>C (p.Trp200Ser) c.576G>C n.704G>C c.563G>C (p.Trp188Ser) c.-231G>C (n.-231G>C) c.218G>C (p.Trp73Ser) c.704G>C (p.Trp235Ser) | |
| 8 | g.132175460C>T | CA372290306 | KCNQ3 | c.926G>A (p.Trp309Ter) c.566G>A (p.Trp189Ter) c.599G>A (p.Trp200Ter) c.576G>A n.704G>A c.563G>A (p.Trp188Ter) c.-231G>A (n.-231G>A) c.218G>A (p.Trp73Ter) c.704G>A (p.Trp235Ter) | gnomAD v4 |
| 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=) |