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.132180149A>T | CA2782247326 | KCNQ3 | c.777+8T>A (n.777+8T>A) c.417+8T>A (n.417+8T>A) c.450+8T>A (n.450+8T>A) c.427+8T>A n.555+8T>A c.414+8T>A (n.414+8T>A) c.-380+8T>A (n.-380+8T>A) c.69+8T>A (n.69+8T>A) c.555+8T>A (n.555+8T>A) | |
| 8 | g.132180151A= | CA1820666575 | KCNQ3 | c.777+6T= (n.777+6T=) c.417+6T= (n.417+6T=) c.450+6T= (n.450+6T=) c.427+6T= n.555+6T= c.414+6T= (n.414+6T=) c.-380+6T= (n.-380+6T=) c.69+6T= (n.69+6T=) c.555+6T= (n.555+6T=) | |
| 8 | g.132180151A>G | CA4880855 | KCNQ3 | c.777+6T>C (n.777+6T>C) c.417+6T>C (n.417+6T>C) c.450+6T>C (n.450+6T>C) c.427+6T>C n.555+6T>C c.414+6T>C (n.414+6T>C) c.-380+6T>C (n.-380+6T>C) c.69+6T>C (n.69+6T>C) c.555+6T>C (n.555+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132180151A>T | CA1820666574 | KCNQ3 | c.777+6T>A (n.777+6T>A) c.417+6T>A (n.417+6T>A) c.450+6T>A (n.450+6T>A) c.427+6T>A n.555+6T>A c.414+6T>A (n.414+6T>A) c.-380+6T>A (n.-380+6T>A) c.69+6T>A (n.69+6T>A) c.555+6T>A (n.555+6T>A) | dbSNP |
| 8 | g.132180152C>T | CA2579251828 | KCNQ3 | c.777+5G>A (n.777+5G>A) c.417+5G>A (n.417+5G>A) c.450+5G>A (n.450+5G>A) c.427+5G>A n.555+5G>A c.414+5G>A (n.414+5G>A) c.-380+5G>A (n.-380+5G>A) c.69+5G>A (n.69+5G>A) c.555+5G>A (n.555+5G>A) | |
| 8 | g.132180155A>C | CA372290641 | KCNQ3 | c.777+2T>G (n.777+2T>G) c.417+2T>G (n.417+2T>G) c.450+2T>G (n.450+2T>G) c.427+2T>G n.555+2T>G c.414+2T>G (n.414+2T>G) c.-380+2T>G (n.-380+2T>G) c.69+2T>G (n.69+2T>G) c.555+2T>G (n.555+2T>G) | |
| 8 | g.132180155A>G | CA372290642 | KCNQ3 | c.777+2T>C (n.777+2T>C) c.417+2T>C (n.417+2T>C) c.450+2T>C (n.450+2T>C) c.427+2T>C n.555+2T>C c.414+2T>C (n.414+2T>C) c.-380+2T>C (n.-380+2T>C) c.69+2T>C (n.69+2T>C) c.555+2T>C (n.555+2T>C) | |
| 8 | g.132180155A>T | CA372290643 | KCNQ3 | c.777+2T>A (n.777+2T>A) c.417+2T>A (n.417+2T>A) c.450+2T>A (n.450+2T>A) c.427+2T>A n.555+2T>A c.414+2T>A (n.414+2T>A) c.-380+2T>A (n.-380+2T>A) c.69+2T>A (n.69+2T>A) c.555+2T>A (n.555+2T>A) | |
| 8 | g.132180156C>A | CA372290644 | KCNQ3 | c.777+1G>T (n.777+1G>T) c.417+1G>T (n.417+1G>T) c.450+1G>T (n.450+1G>T) c.427+1G>T n.555+1G>T c.414+1G>T (n.414+1G>T) c.-380+1G>T (n.-380+1G>T) c.69+1G>T (n.69+1G>T) c.555+1G>T (n.555+1G>T) | ClinVar |
| 8 | g.132180156C>G | CA372290645 | KCNQ3 | c.777+1G>C (n.777+1G>C) c.417+1G>C (n.417+1G>C) c.450+1G>C (n.450+1G>C) c.427+1G>C n.555+1G>C c.414+1G>C (n.414+1G>C) c.-380+1G>C (n.-380+1G>C) c.69+1G>C (n.69+1G>C) c.555+1G>C (n.555+1G>C) | |
| 8 | g.132180156C>T | CA372290646 | KCNQ3 | c.777+1G>A (n.777+1G>A) c.417+1G>A (n.417+1G>A) c.450+1G>A (n.450+1G>A) c.427+1G>A n.555+1G>A c.414+1G>A (n.414+1G>A) c.-380+1G>A (n.-380+1G>A) c.69+1G>A (n.69+1G>A) c.555+1G>A (n.555+1G>A) | |
| 8 | g.132180157T>A | CA372290647 | KCNQ3 | c.777A>T (p.Lys259Asn) c.417A>T (p.Lys139Asn) c.450A>T (p.Lys150Asn) c.427A>T n.555A>T c.414A>T (p.Lys138Asn) c.-380A>T (n.-380A>T) c.69A>T (p.Lys23Asn) c.555A>T (p.Lys185Asn) | |
| 8 | g.132180157T>C | CA4880856 | KCNQ3 | c.777A>G (p.Lys259=) c.417A>G (p.Lys139=) c.450A>G (p.Lys150=) c.427A>G n.555A>G c.414A>G (p.Lys138=) c.-380A>G (n.-380A>G) c.69A>G (p.Lys23=) c.555A>G (p.Lys185=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132180157T>G | CA372290648 | KCNQ3 | c.777A>C (p.Lys259Asn) c.417A>C (p.Lys139Asn) c.450A>C (p.Lys150Asn) c.427A>C n.555A>C c.414A>C (p.Lys138Asn) c.-380A>C (n.-380A>C) c.69A>C (p.Lys23Asn) c.555A>C (p.Lys185Asn) | |
| 8 | g.132180157T= | CA1820666576 | KCNQ3 | c.777A= (p.Lys259=) c.417A= (p.Lys139=) c.450A= (p.Lys150=) c.427A= n.555A= c.414A= (p.Lys138=) c.-380A= (n.-380A=) c.69A= (p.Lys23=) c.555A= (p.Lys185=) | |
| 8 | g.132180158T>A | CA372290649 | KCNQ3 | c.776A>T (p.Lys259Ile) c.416A>T (p.Lys139Ile) c.449A>T (p.Lys150Ile) c.426A>T n.554A>T c.413A>T (p.Lys138Ile) c.-381A>T (n.-381A>T) c.68A>T (p.Lys23Ile) c.554A>T (p.Lys185Ile) | |
| 8 | g.132180158T>C | CA372290650 | KCNQ3 | c.776A>G (p.Lys259Arg) c.416A>G (p.Lys139Arg) c.449A>G (p.Lys150Arg) c.426A>G n.554A>G c.413A>G (p.Lys138Arg) c.-381A>G (n.-381A>G) c.68A>G (p.Lys23Arg) c.554A>G (p.Lys185Arg) | |
| 8 | g.132180158T>G | CA372290651 | KCNQ3 | c.776A>C (p.Lys259Thr) c.416A>C (p.Lys139Thr) c.449A>C (p.Lys150Thr) c.426A>C n.554A>C c.413A>C (p.Lys138Thr) c.-381A>C (n.-381A>C) c.68A>C (p.Lys23Thr) c.554A>C (p.Lys185Thr) | |
| 8 | g.132180159T>A | CA372290653 | KCNQ3 | c.775A>T (p.Lys259Ter) c.415A>T (p.Lys139Ter) c.448A>T (p.Lys150Ter) c.425A>T n.553A>T c.412A>T (p.Lys138Ter) c.-382A>T (n.-382A>T) c.67A>T (p.Lys23Ter) c.553A>T (p.Lys185Ter) | |
| 8 | g.132180159T>C | CA372290654 | KCNQ3 | c.775A>G (p.Lys259Glu) c.415A>G (p.Lys139Glu) c.448A>G (p.Lys150Glu) c.425A>G n.553A>G c.412A>G (p.Lys138Glu) c.-382A>G (n.-382A>G) c.67A>G (p.Lys23Glu) c.553A>G (p.Lys185Glu) | ClinVar dbSNP |
| 8 | g.132180159T>G | CA372290652 | KCNQ3 | c.775A>C (p.Lys259Gln) c.415A>C (p.Lys139Gln) c.448A>C (p.Lys150Gln) c.425A>C n.553A>C c.412A>C (p.Lys138Gln) c.-382A>C (n.-382A>C) c.67A>C (p.Lys23Gln) c.553A>C (p.Lys185Gln) | |
| 8 | g.132180160G>A | CA186223953 | KCNQ3 | c.774C>T (p.Ser258=) c.414C>T (p.Ser138=) c.447C>T (p.Ser149=) c.424C>T n.552C>T c.411C>T (p.Ser137=) c.-383C>T (n.-383C>T) c.66C>T (p.Ser22=) c.552C>T (p.Ser184=) | dbSNP |
| 8 | g.132180160G>C | CA372290655 | KCNQ3 | c.774C>G (p.Ser258Arg) c.414C>G (p.Ser138Arg) c.447C>G (p.Ser149Arg) c.424C>G n.552C>G c.411C>G (p.Ser137Arg) c.-383C>G (n.-383C>G) c.66C>G (p.Ser22Arg) c.552C>G (p.Ser184Arg) | |
| 8 | g.132180160G= | CA1820666577 | KCNQ3 | c.774C= (p.Ser258=) c.414C= (p.Ser138=) c.447C= (p.Ser149=) c.424C= n.552C= c.411C= (p.Ser137=) c.-383C= (n.-383C=) c.66C= (p.Ser22=) c.552C= (p.Ser184=) | |
| 8 | g.132180160G>T | CA372290656 | KCNQ3 | c.774C>A (p.Ser258Arg) c.414C>A (p.Ser138Arg) c.447C>A (p.Ser149Arg) c.424C>A n.552C>A c.411C>A (p.Ser137Arg) c.-383C>A (n.-383C>A) c.66C>A (p.Ser22Arg) c.552C>A (p.Ser184Arg) | |
| 8 | g.132180161C>A | CA372290657 | KCNQ3 | c.773G>T (p.Ser258Ile) c.413G>T (p.Ser138Ile) c.446G>T (p.Ser149Ile) c.423G>T n.551G>T c.410G>T (p.Ser137Ile) c.-384G>T (n.-384G>T) c.65G>T (p.Ser22Ile) c.551G>T (p.Ser184Ile) | |
| 8 | g.132180161C= | CA1820666578 | KCNQ3 | c.773G= (p.Ser258=) c.413G= (p.Ser138=) c.446G= (p.Ser149=) c.423G= n.551G= c.410G= (p.Ser137=) c.-384G= (n.-384G=) c.65G= (p.Ser22=) c.551G= (p.Ser184=) | |
| 8 | g.132180161C>G | CA372290658 | KCNQ3 | c.773G>C (p.Ser258Thr) c.413G>C (p.Ser138Thr) c.446G>C (p.Ser149Thr) c.423G>C n.551G>C c.410G>C (p.Ser137Thr) c.-384G>C (n.-384G>C) c.65G>C (p.Ser22Thr) c.551G>C (p.Ser184Thr) | |
| 8 | g.132180161C>T | CA4880857 | KCNQ3 | c.773G>A (p.Ser258Asn) c.413G>A (p.Ser138Asn) c.446G>A (p.Ser149Asn) c.423G>A n.551G>A c.410G>A (p.Ser137Asn) c.-384G>A (n.-384G>A) c.65G>A (p.Ser22Asn) c.551G>A (p.Ser184Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132180162T>A | CA372290661 | KCNQ3 | c.772A>T (p.Ser258Cys) c.412A>T (p.Ser138Cys) c.445A>T (p.Ser149Cys) c.422A>T n.550A>T c.409A>T (p.Ser137Cys) c.-385A>T (n.-385A>T) c.64A>T (p.Ser22Cys) c.550A>T (p.Ser184Cys) | |
| 8 | g.132180162T>C | CA372290659 | KCNQ3 | c.772A>G (p.Ser258Gly) c.412A>G (p.Ser138Gly) c.445A>G (p.Ser149Gly) c.422A>G n.550A>G c.409A>G (p.Ser137Gly) c.-385A>G (n.-385A>G) c.64A>G (p.Ser22Gly) c.550A>G (p.Ser184Gly) | |
| 8 | g.132180162T>G | CA372290660 | KCNQ3 | c.772A>C (p.Ser258Arg) c.412A>C (p.Ser138Arg) c.445A>C (p.Ser149Arg) c.422A>C n.550A>C c.409A>C (p.Ser137Arg) c.-385A>C (n.-385A>C) c.64A>C (p.Ser22Arg) c.550A>C (p.Ser184Arg) | |
| 8 | g.132180163G>A | CA463070457 | KCNQ3 | c.771C>T (p.His257=) c.411C>T (p.His137=) c.444C>T (p.His148=) c.421C>T n.549C>T c.408C>T (p.His136=) c.-386C>T (n.-386C>T) c.63C>T (p.His21=) c.549C>T (p.His183=) | gnomAD v4 |
| 8 | g.132180163G>C | CA372290662 | KCNQ3 | c.771C>G (p.His257Gln) c.411C>G (p.His137Gln) c.444C>G (p.His148Gln) c.421C>G n.549C>G c.408C>G (p.His136Gln) c.-386C>G (n.-386C>G) c.63C>G (p.His21Gln) c.549C>G (p.His183Gln) | |
| 8 | g.132180163G>T | CA372290663 | KCNQ3 | c.771C>A (p.His257Gln) c.411C>A (p.His137Gln) c.444C>A (p.His148Gln) c.421C>A n.549C>A c.408C>A (p.His136Gln) c.-386C>A (n.-386C>A) c.63C>A (p.His21Gln) c.549C>A (p.His183Gln) | |
| 8 | g.132180164T>A | CA372290664 | KCNQ3 | c.770A>T (p.His257Leu) c.410A>T (p.His137Leu) c.443A>T (p.His148Leu) c.420A>T n.548A>T c.407A>T (p.His136Leu) c.-387A>T (n.-387A>T) c.62A>T (p.His21Leu) c.548A>T (p.His183Leu) | |
| 8 | g.132180164T>C | CA372290665 | KCNQ3 | c.770A>G (p.His257Arg) c.410A>G (p.His137Arg) c.443A>G (p.His148Arg) c.420A>G n.548A>G c.407A>G (p.His136Arg) c.-387A>G (n.-387A>G) c.62A>G (p.His21Arg) c.548A>G (p.His183Arg) | |
| 8 | g.132180164T>G | CA372290666 | KCNQ3 | c.770A>C (p.His257Pro) c.410A>C (p.His137Pro) c.443A>C (p.His148Pro) c.420A>C n.548A>C c.407A>C (p.His136Pro) c.-387A>C (n.-387A>C) c.62A>C (p.His21Pro) c.548A>C (p.His183Pro) | |
| 8 | g.132180165G>A | CA372290667 | KCNQ3 | c.769C>T (p.His257Tyr) c.409C>T (p.His137Tyr) c.442C>T (p.His148Tyr) c.419C>T n.547C>T c.406C>T (p.His136Tyr) c.-388C>T (n.-388C>T) c.61C>T (p.His21Tyr) c.547C>T (p.His183Tyr) | ClinVar dbSNP |
| 8 | g.132180165G>C | CA372290669 | KCNQ3 | c.769C>G (p.His257Asp) c.409C>G (p.His137Asp) c.442C>G (p.His148Asp) c.419C>G n.547C>G c.406C>G (p.His136Asp) c.-388C>G (n.-388C>G) c.61C>G (p.His21Asp) c.547C>G (p.His183Asp) | COSMIC |
| 8 | g.132180165G= | CA1820666579 | KCNQ3 | c.769C= (p.His257=) c.409C= (p.His137=) c.442C= (p.His148=) c.419C= n.547C= c.406C= (p.His136=) c.-388C= (n.-388C=) c.61C= (p.His21=) c.547C= (p.His183=) | |
| 8 | g.132180165G>T | CA372290668 | KCNQ3 | c.769C>A (p.His257Asn) c.409C>A (p.His137Asn) c.442C>A (p.His148Asn) c.419C>A n.547C>A c.406C>A (p.His136Asn) c.-388C>A (n.-388C>A) c.61C>A (p.His21Asn) c.547C>A (p.His183Asn) | |
| 8 | g.132180166G>A | CA463070458 | KCNQ3 | c.768C>T (p.Ala256=) c.408C>T (p.Ala136=) c.441C>T (p.Ala147=) c.418C>T n.546C>T c.405C>T (p.Ala135=) c.-389C>T (n.-389C>T) c.60C>T (p.Ala20=) c.546C>T (p.Ala182=) | |
| 8 | g.132180166G>C | CA463070459 | KCNQ3 | c.768C>G (p.Ala256=) c.408C>G (p.Ala136=) c.441C>G (p.Ala147=) c.418C>G n.546C>G c.405C>G (p.Ala135=) c.-389C>G (n.-389C>G) c.60C>G (p.Ala20=) c.546C>G (p.Ala182=) | ClinVar dbSNP |
| 8 | g.132180166G= | CA1820666580 | KCNQ3 | c.768C= (p.Ala256=) c.408C= (p.Ala136=) c.441C= (p.Ala147=) c.418C= n.546C= c.405C= (p.Ala135=) c.-389C= (n.-389C=) c.60C= (p.Ala20=) c.546C= (p.Ala182=) | |
| 8 | g.132180166G>T | CA463070460 | KCNQ3 | c.768C>A (p.Ala256=) c.408C>A (p.Ala136=) c.441C>A (p.Ala147=) c.418C>A n.546C>A c.405C>A (p.Ala135=) c.-389C>A (n.-389C>A) c.60C>A (p.Ala20=) c.546C>A (p.Ala182=) | |
| 8 | g.132180167G>A | CA372290670 | KCNQ3 | c.767C>T (p.Ala256Val) c.407C>T (p.Ala136Val) c.440C>T (p.Ala147Val) c.417C>T n.545C>T c.404C>T (p.Ala135Val) c.-390C>T (n.-390C>T) c.59C>T (p.Ala20Val) c.545C>T (p.Ala182Val) | ClinVar |
| 8 | g.132180167G>C | CA372290672 | KCNQ3 | c.767C>G (p.Ala256Gly) c.407C>G (p.Ala136Gly) c.440C>G (p.Ala147Gly) c.417C>G n.545C>G c.404C>G (p.Ala135Gly) c.-390C>G (n.-390C>G) c.59C>G (p.Ala20Gly) c.545C>G (p.Ala182Gly) | |
| 8 | g.132180167G>T | CA372290671 | KCNQ3 | c.767C>A (p.Ala256Asp) c.407C>A (p.Ala136Asp) c.440C>A (p.Ala147Asp) c.417C>A n.545C>A c.404C>A (p.Ala135Asp) c.-390C>A (n.-390C>A) c.59C>A (p.Ala20Asp) c.545C>A (p.Ala182Asp) | |
| 8 | g.132180168C>A | CA372290673 | KCNQ3 | c.766G>T (p.Ala256Ser) c.406G>T (p.Ala136Ser) c.439G>T (p.Ala147Ser) c.416G>T n.544G>T c.403G>T (p.Ala135Ser) c.-391G>T (n.-391G>T) c.58G>T (p.Ala20Ser) c.544G>T (p.Ala182Ser) | dbSNP |
| 8 | g.132180168C>G | CA372290675 | KCNQ3 | c.766G>C (p.Ala256Pro) c.406G>C (p.Ala136Pro) c.439G>C (p.Ala147Pro) c.416G>C n.544G>C c.403G>C (p.Ala135Pro) c.-391G>C (n.-391G>C) c.58G>C (p.Ala20Pro) c.544G>C (p.Ala182Pro) | |
| 8 | g.132180168C>T | CA372290674 | KCNQ3 | c.766G>A (p.Ala256Thr) c.406G>A (p.Ala136Thr) c.439G>A (p.Ala147Thr) c.416G>A n.544G>A c.403G>A (p.Ala135Thr) c.-391G>A (n.-391G>A) c.58G>A (p.Ala20Thr) c.544G>A (p.Ala182Thr) | |
| 8 | g.132180169A>C | CA372290676 | KCNQ3 | c.765T>G (p.Cys255Trp) c.405T>G (p.Cys135Trp) c.438T>G (p.Cys146Trp) c.415T>G n.543T>G c.402T>G (p.Cys134Trp) c.-392T>G (n.-392T>G) c.57T>G (p.Cys19Trp) c.543T>G (p.Cys181Trp) | |
| 8 | g.132180169A>G | CA463070461 | KCNQ3 | c.765T>C (p.Cys255=) c.405T>C (p.Cys135=) c.438T>C (p.Cys146=) c.415T>C n.543T>C c.402T>C (p.Cys134=) c.-392T>C (n.-392T>C) c.57T>C (p.Cys19=) c.543T>C (p.Cys181=) | |
| 8 | g.132180169A>T | CA372290677 | KCNQ3 | c.765T>A (p.Cys255Ter) c.405T>A (p.Cys135Ter) c.438T>A (p.Cys146Ter) c.415T>A n.543T>A c.402T>A (p.Cys134Ter) c.-392T>A (n.-392T>A) c.57T>A (p.Cys19Ter) c.543T>A (p.Cys181Ter) | |
| 8 | g.132180170C>A | CA372290678 | KCNQ3 | c.764G>T (p.Cys255Phe) c.404G>T (p.Cys135Phe) c.437G>T (p.Cys146Phe) c.414G>T n.542G>T c.401G>T (p.Cys134Phe) c.-393G>T (n.-393G>T) c.56G>T (p.Cys19Phe) c.542G>T (p.Cys181Phe) | |
| 8 | g.132180170C= | CA1820666581 | KCNQ3 | c.764G= (p.Cys255=) c.404G= (p.Cys135=) c.437G= (p.Cys146=) c.414G= n.542G= c.401G= (p.Cys134=) c.-393G= (n.-393G=) c.56G= (p.Cys19=) c.542G= (p.Cys181=) | |
| 8 | g.132180170C>G | CA372290679 | KCNQ3 | c.764G>C (p.Cys255Ser) c.404G>C (p.Cys135Ser) c.437G>C (p.Cys146Ser) c.414G>C n.542G>C c.401G>C (p.Cys134Ser) c.-393G>C (n.-393G>C) c.56G>C (p.Cys19Ser) c.542G>C (p.Cys181Ser) | |
| 8 | g.132180170C>T | CA372290680 | KCNQ3 | c.764G>A (p.Cys255Tyr) c.404G>A (p.Cys135Tyr) c.437G>A (p.Cys146Tyr) c.414G>A n.542G>A c.401G>A (p.Cys134Tyr) c.-393G>A (n.-393G>A) c.56G>A (p.Cys19Tyr) c.542G>A (p.Cys181Tyr) | dbSNP |
| 8 | g.132180171A>C | CA372290681 | KCNQ3 | c.763T>G (p.Cys255Gly) c.403T>G (p.Cys135Gly) c.436T>G (p.Cys146Gly) c.413T>G n.541T>G c.400T>G (p.Cys134Gly) c.-394T>G (n.-394T>G) c.55T>G (p.Cys19Gly) c.541T>G (p.Cys181Gly) | |
| 8 | g.132180171A>G | CA372290682 | KCNQ3 | c.763T>C (p.Cys255Arg) c.403T>C (p.Cys135Arg) c.436T>C (p.Cys146Arg) c.413T>C n.541T>C c.400T>C (p.Cys134Arg) c.-394T>C (n.-394T>C) c.55T>C (p.Cys19Arg) c.541T>C (p.Cys181Arg) | |
| 8 | g.132180171A>T | CA372290683 | KCNQ3 | c.763T>A (p.Cys255Ser) c.403T>A (p.Cys135Ser) c.436T>A (p.Cys146Ser) c.413T>A n.541T>A c.400T>A (p.Cys134Ser) c.-394T>A (n.-394T>A) c.55T>A (p.Cys19Ser) c.541T>A (p.Cys181Ser) | |
| 8 | g.132180172G>A | CA463070462 | KCNQ3 | c.762C>T (p.Ile254=) c.402C>T (p.Ile134=) c.435C>T (p.Ile145=) c.412C>T n.540C>T c.399C>T (p.Ile133=) c.-395C>T (n.-395C>T) c.54C>T (p.Ile18=) c.540C>T (p.Ile180=) | COSMIC |
| 8 | g.132180172G>C | CA372290684 | KCNQ3 | c.762C>G (p.Ile254Met) c.402C>G (p.Ile134Met) c.435C>G (p.Ile145Met) c.412C>G n.540C>G c.399C>G (p.Ile133Met) c.-395C>G (n.-395C>G) c.54C>G (p.Ile18Met) c.540C>G (p.Ile180Met) | |
| 8 | g.132180172G>T | CA463070463 | KCNQ3 | c.762C>A (p.Ile254=) c.402C>A (p.Ile134=) c.435C>A (p.Ile145=) c.412C>A n.540C>A c.399C>A (p.Ile133=) c.-395C>A (n.-395C>A) c.54C>A (p.Ile18=) c.540C>A (p.Ile180=) | |
| 8 | g.132180173A>C | CA372290685 | KCNQ3 | c.761T>G (p.Ile254Ser) c.401T>G (p.Ile134Ser) c.434T>G (p.Ile145Ser) c.411T>G n.539T>G c.398T>G (p.Ile133Ser) c.-396T>G (n.-396T>G) c.53T>G (p.Ile18Ser) c.539T>G (p.Ile180Ser) | |
| 8 | g.132180173A>G | CA372290686 | KCNQ3 | c.761T>C (p.Ile254Thr) c.401T>C (p.Ile134Thr) c.434T>C (p.Ile145Thr) c.411T>C n.539T>C c.398T>C (p.Ile133Thr) c.-396T>C (n.-396T>C) c.53T>C (p.Ile18Thr) c.539T>C (p.Ile180Thr) | |
| 8 | g.132180173A>T | CA372290687 | KCNQ3 | c.761T>A (p.Ile254Asn) c.401T>A (p.Ile134Asn) c.434T>A (p.Ile145Asn) c.411T>A n.539T>A c.398T>A (p.Ile133Asn) c.-396T>A (n.-396T>A) c.53T>A (p.Ile18Asn) c.539T>A (p.Ile180Asn) | |
| 8 | g.132180174T>A | CA372290690 | KCNQ3 | c.760A>T (p.Ile254Phe) c.400A>T (p.Ile134Phe) c.433A>T (p.Ile145Phe) c.410A>T n.538A>T c.397A>T (p.Ile133Phe) c.-397A>T (n.-397A>T) c.52A>T (p.Ile18Phe) c.538A>T (p.Ile180Phe) | |
| 8 | g.132180174T>C | CA372290689 | KCNQ3 | c.760A>G (p.Ile254Val) c.400A>G (p.Ile134Val) c.433A>G (p.Ile145Val) c.410A>G n.538A>G c.397A>G (p.Ile133Val) c.-397A>G (n.-397A>G) c.52A>G (p.Ile18Val) c.538A>G (p.Ile180Val) | |
| 8 | g.132180174T>G | CA372290688 | KCNQ3 | c.760A>C (p.Ile254Leu) c.400A>C (p.Ile134Leu) c.433A>C (p.Ile145Leu) c.410A>C n.538A>C c.397A>C (p.Ile133Leu) c.-397A>C (n.-397A>C) c.52A>C (p.Ile18Leu) c.538A>C (p.Ile180Leu) | |
| 8 | g.132180175G>A | CA463070464 | KCNQ3 | c.759C>T (p.Ala253=) c.399C>T (p.Ala133=) c.432C>T (p.Ala144=) c.409C>T n.537C>T c.396C>T (p.Ala132=) c.-398C>T (n.-398C>T) c.51C>T (p.Ala17=) c.537C>T (p.Ala179=) | gnomAD v4 |
| 8 | g.132180175G>C | CA463070465 | KCNQ3 | c.759C>G (p.Ala253=) c.399C>G (p.Ala133=) c.432C>G (p.Ala144=) c.409C>G n.537C>G c.396C>G (p.Ala132=) c.-398C>G (n.-398C>G) c.51C>G (p.Ala17=) c.537C>G (p.Ala179=) | |
| 8 | g.132180175G>T | CA463070466 | KCNQ3 | c.759C>A (p.Ala253=) c.399C>A (p.Ala133=) c.432C>A (p.Ala144=) c.409C>A n.537C>A c.396C>A (p.Ala132=) c.-398C>A (n.-398C>A) c.51C>A (p.Ala17=) c.537C>A (p.Ala179=) | |
| 8 | g.132180176G>A | CA372290691 | KCNQ3 | c.758C>T (p.Ala253Val) c.398C>T (p.Ala133Val) c.431C>T (p.Ala144Val) c.408C>T n.536C>T c.395C>T (p.Ala132Val) c.-399C>T (n.-399C>T) c.50C>T (p.Ala17Val) c.536C>T (p.Ala179Val) | |
| 8 | g.132180176G>C | CA372290692 | KCNQ3 | c.758C>G (p.Ala253Gly) c.398C>G (p.Ala133Gly) c.431C>G (p.Ala144Gly) c.408C>G n.536C>G c.395C>G (p.Ala132Gly) c.-399C>G (n.-399C>G) c.50C>G (p.Ala17Gly) c.536C>G (p.Ala179Gly) | ClinVar dbSNP |
| 8 | g.132180176G= | CA1820666582 | KCNQ3 | c.758C= (p.Ala253=) c.398C= (p.Ala133=) c.431C= (p.Ala144=) c.408C= n.536C= c.395C= (p.Ala132=) c.-399C= (n.-399C=) c.50C= (p.Ala17=) c.536C= (p.Ala179=) | |
| 8 | g.132180176G>T | CA372290693 | KCNQ3 | c.758C>A (p.Ala253Asp) c.398C>A (p.Ala133Asp) c.431C>A (p.Ala144Asp) c.408C>A n.536C>A c.395C>A (p.Ala132Asp) c.-399C>A (n.-399C>A) c.50C>A (p.Ala17Asp) c.536C>A (p.Ala179Asp) | |
| 8 | g.132180177C>A | CA372290694 | KCNQ3 | c.757G>T (p.Ala253Ser) c.397G>T (p.Ala133Ser) c.430G>T (p.Ala144Ser) c.407G>T n.535G>T c.394G>T (p.Ala132Ser) c.-400G>T (n.-400G>T) c.49G>T (p.Ala17Ser) c.535G>T (p.Ala179Ser) | |
| 8 | g.132180177C>G | CA372290695 | KCNQ3 | c.757G>C (p.Ala253Pro) c.397G>C (p.Ala133Pro) c.430G>C (p.Ala144Pro) c.407G>C n.535G>C c.394G>C (p.Ala132Pro) c.-400G>C (n.-400G>C) c.49G>C (p.Ala17Pro) c.535G>C (p.Ala179Pro) | |
| 8 | g.132180177C>T | CA372290696 | KCNQ3 | c.757G>A (p.Ala253Thr) c.397G>A (p.Ala133Thr) c.430G>A (p.Ala144Thr) c.407G>A n.535G>A c.394G>A (p.Ala132Thr) c.-400G>A (n.-400G>A) c.49G>A (p.Ala17Thr) c.535G>A (p.Ala179Thr) | |
| 8 | g.132180178T>A | CA463070467 | KCNQ3 | c.756A>T (p.Ser252=) c.396A>T (p.Ser132=) c.429A>T (p.Ser143=) c.406A>T n.534A>T c.393A>T (p.Ser131=) c.-401A>T (n.-401A>T) c.48A>T (p.Ser16=) c.534A>T (p.Ser178=) | dbSNP |
| 8 | g.132180178T>C | CA463070468 | KCNQ3 | c.756A>G (p.Ser252=) c.396A>G (p.Ser132=) c.429A>G (p.Ser143=) c.406A>G n.534A>G c.393A>G (p.Ser131=) c.-401A>G (n.-401A>G) c.48A>G (p.Ser16=) c.534A>G (p.Ser178=) | |
| 8 | g.132180178T>G | CA463070469 | KCNQ3 | c.756A>C (p.Ser252=) c.396A>C (p.Ser132=) c.429A>C (p.Ser143=) c.406A>C n.534A>C c.393A>C (p.Ser131=) c.-401A>C (n.-401A>C) c.48A>C (p.Ser16=) c.534A>C (p.Ser178=) | |
| 8 | g.132180179G>A | CA372290697 | KCNQ3 | c.755C>T (p.Ser252Leu) c.395C>T (p.Ser132Leu) c.428C>T (p.Ser143Leu) c.405C>T n.533C>T c.392C>T (p.Ser131Leu) c.-402C>T (n.-402C>T) c.47C>T (p.Ser16Leu) c.533C>T (p.Ser178Leu) | gnomAD v4 |
| 8 | g.132180179G>C | CA372290698 | KCNQ3 | c.755C>G (p.Ser252Ter) c.395C>G (p.Ser132Ter) c.428C>G (p.Ser143Ter) c.405C>G n.533C>G c.392C>G (p.Ser131Ter) c.-402C>G (n.-402C>G) c.47C>G (p.Ser16Ter) c.533C>G (p.Ser178Ter) | |
| 8 | g.132180179G>T | CA372290699 | KCNQ3 | c.755C>A (p.Ser252Ter) c.395C>A (p.Ser132Ter) c.428C>A (p.Ser143Ter) c.405C>A n.533C>A c.392C>A (p.Ser131Ter) c.-402C>A (n.-402C>A) c.47C>A (p.Ser16Ter) c.533C>A (p.Ser178Ter) | |
| 8 | g.132180180A>C | CA372290700 | KCNQ3 | c.754T>G (p.Ser252Ala) c.394T>G (p.Ser132Ala) c.427T>G (p.Ser143Ala) c.404T>G n.532T>G c.391T>G (p.Ser131Ala) c.-403T>G (n.-403T>G) c.46T>G (p.Ser16Ala) c.532T>G (p.Ser178Ala) | |
| 8 | g.132180180A>G | CA372290701 | KCNQ3 | c.754T>C (p.Ser252Pro) c.394T>C (p.Ser132Pro) c.427T>C (p.Ser143Pro) c.404T>C n.532T>C c.391T>C (p.Ser131Pro) c.-403T>C (n.-403T>C) c.46T>C (p.Ser16Pro) c.532T>C (p.Ser178Pro) | |
| 8 | g.132180180A>T | CA372290702 | KCNQ3 | c.754T>A (p.Ser252Thr) c.394T>A (p.Ser132Thr) c.427T>A (p.Ser143Thr) c.404T>A n.532T>A c.391T>A (p.Ser131Thr) c.-403T>A (n.-403T>A) c.46T>A (p.Ser16Thr) c.532T>A (p.Ser178Thr) | gnomAD v4 |
| 8 | g.132180181G>A | CA463070470 | KCNQ3 | c.753C>T (p.Gly251=) c.393C>T (p.Gly131=) c.426C>T (p.Gly142=) c.403C>T n.531C>T c.390C>T (p.Gly130=) c.-404C>T (n.-404C>T) c.45C>T (p.Gly15=) c.531C>T (p.Gly177=) | dbSNP gnomAD v4 COSMIC |
| 8 | g.132180181G>C | CA463070471 | KCNQ3 | c.753C>G (p.Gly251=) c.393C>G (p.Gly131=) c.426C>G (p.Gly142=) c.403C>G n.531C>G c.390C>G (p.Gly130=) c.-404C>G (n.-404C>G) c.45C>G (p.Gly15=) c.531C>G (p.Gly177=) | |
| 8 | g.132180181G= | CA1820666583 | KCNQ3 | c.753C= (p.Gly251=) c.393C= (p.Gly131=) c.426C= (p.Gly142=) c.403C= n.531C= c.390C= (p.Gly130=) c.-404C= (n.-404C=) c.45C= (p.Gly15=) c.531C= (p.Gly177=) | |
| 8 | g.132180181G>T | CA463070472 | KCNQ3 | c.753C>A (p.Gly251=) c.393C>A (p.Gly131=) c.426C>A (p.Gly142=) c.403C>A n.531C>A c.390C>A (p.Gly130=) c.-404C>A (n.-404C>A) c.45C>A (p.Gly15=) c.531C>A (p.Gly177=) | |
| 8 | g.132180182C>A | CA372290704 | KCNQ3 | c.752G>T (p.Gly251Val) c.392G>T (p.Gly131Val) c.425G>T (p.Gly142Val) c.402G>T n.530G>T c.389G>T (p.Gly130Val) c.-405G>T (n.-405G>T) c.44G>T (p.Gly15Val) c.530G>T (p.Gly177Val) | |
| 8 | g.132180182C>G | CA372290705 | KCNQ3 | c.752G>C (p.Gly251Ala) c.392G>C (p.Gly131Ala) c.425G>C (p.Gly142Ala) c.402G>C n.530G>C c.389G>C (p.Gly130Ala) c.-405G>C (n.-405G>C) c.44G>C (p.Gly15Ala) c.530G>C (p.Gly177Ala) | gnomAD v4 |
| 8 | g.132180182C>T | CA372290703 | KCNQ3 | c.752G>A (p.Gly251Asp) c.392G>A (p.Gly131Asp) c.425G>A (p.Gly142Asp) c.402G>A n.530G>A c.389G>A (p.Gly130Asp) c.-405G>A (n.-405G>A) c.44G>A (p.Gly15Asp) c.530G>A (p.Gly177Asp) | |
| 8 | g.132180183C>A | CA372290706 | KCNQ3 | c.751G>T (p.Gly251Cys) c.391G>T (p.Gly131Cys) c.424G>T (p.Gly142Cys) c.401G>T n.529G>T c.388G>T (p.Gly130Cys) c.-406G>T (n.-406G>T) c.43G>T (p.Gly15Cys) c.529G>T (p.Gly177Cys) | |
| 8 | g.132180183C>G | CA372290707 | KCNQ3 | c.751G>C (p.Gly251Arg) c.391G>C (p.Gly131Arg) c.424G>C (p.Gly142Arg) c.401G>C n.529G>C c.388G>C (p.Gly130Arg) c.-406G>C (n.-406G>C) c.43G>C (p.Gly15Arg) c.529G>C (p.Gly177Arg) | |
| 8 | g.132180183C>T | CA372290708 | KCNQ3 | c.751G>A (p.Gly251Ser) c.391G>A (p.Gly131Ser) c.424G>A (p.Gly142Ser) c.401G>A n.529G>A c.388G>A (p.Gly130Ser) c.-406G>A (n.-406G>A) c.43G>A (p.Gly15Ser) c.529G>A (p.Gly177Ser) | |
| 8 | g.132180184C>A | CA463070473 | KCNQ3 | c.750G>T (p.Leu250=) c.390G>T (p.Leu130=) c.423G>T (p.Leu141=) c.400G>T n.528G>T c.387G>T (p.Leu129=) c.-407G>T (n.-407G>T) c.42G>T (p.Leu14=) c.528G>T (p.Leu176=) | |
| 8 | g.132180184C>G | CA463070474 | KCNQ3 | c.750G>C (p.Leu250=) c.390G>C (p.Leu130=) c.423G>C (p.Leu141=) c.400G>C n.528G>C c.387G>C (p.Leu129=) c.-407G>C (n.-407G>C) c.42G>C (p.Leu14=) c.528G>C (p.Leu176=) | |
| 8 | g.132180184C>T | CA463070475 | KCNQ3 | c.750G>A (p.Leu250=) c.390G>A (p.Leu130=) c.423G>A (p.Leu141=) c.400G>A n.528G>A c.387G>A (p.Leu129=) c.-407G>A (n.-407G>A) c.42G>A (p.Leu14=) c.528G>A (p.Leu176=) | gnomAD v4 |
| 8 | g.132180185A>C | CA372290709 | KCNQ3 | c.749T>G (p.Leu250Arg) c.389T>G (p.Leu130Arg) c.422T>G (p.Leu141Arg) c.399T>G n.527T>G c.386T>G (p.Leu129Arg) c.-408T>G (n.-408T>G) c.41T>G (p.Leu14Arg) c.527T>G (p.Leu176Arg) | |
| 8 | g.132180185A>G | CA372290710 | KCNQ3 | c.749T>C (p.Leu250Pro) c.389T>C (p.Leu130Pro) c.422T>C (p.Leu141Pro) c.399T>C n.527T>C c.386T>C (p.Leu129Pro) c.-408T>C (n.-408T>C) c.41T>C (p.Leu14Pro) c.527T>C (p.Leu176Pro) | |
| 8 | g.132180185A>T | CA372290711 | KCNQ3 | c.749T>A (p.Leu250Gln) c.389T>A (p.Leu130Gln) c.422T>A (p.Leu141Gln) c.399T>A n.527T>A c.386T>A (p.Leu129Gln) c.-408T>A (n.-408T>A) c.41T>A (p.Leu14Gln) c.527T>A (p.Leu176Gln) | |
| 8 | g.132180186G>A | CA463070476 | KCNQ3 | c.748C>T (p.Leu250=) c.388C>T (p.Leu130=) c.421C>T (p.Leu141=) c.398C>T n.526C>T c.385C>T (p.Leu129=) c.-409C>T (n.-409C>T) c.40C>T (p.Leu14=) c.526C>T (p.Leu176=) | |
| 8 | g.132180186G>C | CA372290712 | KCNQ3 | c.748C>G (p.Leu250Val) c.388C>G (p.Leu130Val) c.421C>G (p.Leu141Val) c.398C>G n.526C>G c.385C>G (p.Leu129Val) c.-409C>G (n.-409C>G) c.40C>G (p.Leu14Val) c.526C>G (p.Leu176Val) | |
| 8 | g.132180186G>T | CA372290713 | KCNQ3 | c.748C>A (p.Leu250Met) c.388C>A (p.Leu130Met) c.421C>A (p.Leu141Met) c.398C>A n.526C>A c.385C>A (p.Leu129Met) c.-409C>A (n.-409C>A) c.40C>A (p.Leu14Met) c.526C>A (p.Leu176Met) | |
| 8 | g.132180187A= | CA1820666584 | KCNQ3 | c.747T= (p.Leu249=) c.387T= (p.Leu129=) c.420T= (p.Leu140=) c.397T= n.525T= c.384T= (p.Leu128=) c.-410T= (n.-410T=) c.39T= (p.Leu13=) c.525T= (p.Leu175=) | |
| 8 | g.132180187A>C | CA463070477 | KCNQ3 | c.747T>G (p.Leu249=) c.387T>G (p.Leu129=) c.420T>G (p.Leu140=) c.397T>G n.525T>G c.384T>G (p.Leu128=) c.-410T>G (n.-410T>G) c.39T>G (p.Leu13=) c.525T>G (p.Leu175=) | |
| 8 | g.132180187A>G | CA4880858 | KCNQ3 | c.747T>C (p.Leu249=) c.387T>C (p.Leu129=) c.420T>C (p.Leu140=) c.397T>C n.525T>C c.384T>C (p.Leu128=) c.-410T>C (n.-410T>C) c.39T>C (p.Leu13=) c.525T>C (p.Leu175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.132180187A>T | CA463070478 | KCNQ3 | c.747T>A (p.Leu249=) c.387T>A (p.Leu129=) c.420T>A (p.Leu140=) c.397T>A n.525T>A c.384T>A (p.Leu128=) c.-410T>A (n.-410T>A) c.39T>A (p.Leu13=) c.525T>A (p.Leu175=) | |
| 8 | g.132180188A>C | CA372290714 | KCNQ3 | c.746T>G (p.Leu249Arg) c.386T>G (p.Leu129Arg) c.419T>G (p.Leu140Arg) c.396T>G n.524T>G c.383T>G (p.Leu128Arg) c.-411T>G (n.-411T>G) c.38T>G (p.Leu13Arg) c.524T>G (p.Leu175Arg) | |
| 8 | g.132180188A>G | CA372290715 | KCNQ3 | c.746T>C (p.Leu249Pro) c.386T>C (p.Leu129Pro) c.419T>C (p.Leu140Pro) c.396T>C n.524T>C c.383T>C (p.Leu128Pro) c.-411T>C (n.-411T>C) c.38T>C (p.Leu13Pro) c.524T>C (p.Leu175Pro) | |
| 8 | g.132180188A>T | CA372290716 | KCNQ3 | c.746T>A (p.Leu249His) c.386T>A (p.Leu129His) c.419T>A (p.Leu140His) c.396T>A n.524T>A c.383T>A (p.Leu128His) c.-411T>A (n.-411T>A) c.38T>A (p.Leu13His) c.524T>A (p.Leu175His) | |
| 8 | g.132180189G>A | CA372290719 | KCNQ3 | c.745C>T (p.Leu249Phe) c.385C>T (p.Leu129Phe) c.418C>T (p.Leu140Phe) c.395C>T n.523C>T c.382C>T (p.Leu128Phe) c.-412C>T (n.-412C>T) c.37C>T (p.Leu13Phe) c.523C>T (p.Leu175Phe) | ClinVar dbSNP |
| 8 | g.132180189G>C | CA372290717 | KCNQ3 | c.745C>G (p.Leu249Val) c.385C>G (p.Leu129Val) c.418C>G (p.Leu140Val) c.395C>G n.523C>G c.382C>G (p.Leu128Val) c.-412C>G (n.-412C>G) c.37C>G (p.Leu13Val) c.523C>G (p.Leu175Val) | |
| 8 | g.132180189G>T | CA372290718 | KCNQ3 | c.745C>A (p.Leu249Ile) c.385C>A (p.Leu129Ile) c.418C>A (p.Leu140Ile) c.395C>A n.523C>A c.382C>A (p.Leu128Ile) c.-412C>A (n.-412C>A) c.37C>A (p.Leu13Ile) c.523C>A (p.Leu175Ile) | |
| 8 | g.132180190C>A | CA372290720 | KCNQ3 | c.744G>T (p.Lys248Asn) c.384G>T (p.Lys128Asn) c.417G>T (p.Lys139Asn) c.394G>T n.522G>T c.381G>T (p.Lys127Asn) c.-413G>T (n.-413G>T) c.36G>T (p.Lys12Asn) c.522G>T (p.Lys174Asn) | |
| 8 | g.132180190C= | CA1820666585 | KCNQ3 | c.744G= (p.Lys248=) c.384G= (p.Lys128=) c.417G= (p.Lys139=) c.394G= n.522G= c.381G= (p.Lys127=) c.-413G= (n.-413G=) c.36G= (p.Lys12=) c.522G= (p.Lys174=) | |
| 8 | g.132180190C>G | CA372290721 | KCNQ3 | c.744G>C (p.Lys248Asn) c.384G>C (p.Lys128Asn) c.417G>C (p.Lys139Asn) c.394G>C n.522G>C c.381G>C (p.Lys127Asn) c.-413G>C (n.-413G>C) c.36G>C (p.Lys12Asn) c.522G>C (p.Lys174Asn) | |
| 8 | g.132180190C>T | CA4880859 | KCNQ3 | c.744G>A (p.Lys248=) c.384G>A (p.Lys128=) c.417G>A (p.Lys139=) c.394G>A n.522G>A c.381G>A (p.Lys127=) c.-413G>A (n.-413G>A) c.36G>A (p.Lys12=) c.522G>A (p.Lys174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132180191T>A | CA372290722 | KCNQ3 | c.743A>T (p.Lys248Met) c.383A>T (p.Lys128Met) c.416A>T (p.Lys139Met) c.393A>T n.521A>T c.380A>T (p.Lys127Met) c.-414A>T (n.-414A>T) c.35A>T (p.Lys12Met) c.521A>T (p.Lys174Met) | |
| 8 | g.132180191T>C | CA372290723 | KCNQ3 | c.743A>G (p.Lys248Arg) c.383A>G (p.Lys128Arg) c.416A>G (p.Lys139Arg) c.393A>G n.521A>G c.380A>G (p.Lys127Arg) c.-414A>G (n.-414A>G) c.35A>G (p.Lys12Arg) c.521A>G (p.Lys174Arg) | |
| 8 | g.132180191T>G | CA372290724 | KCNQ3 | c.743A>C (p.Lys248Thr) c.383A>C (p.Lys128Thr) c.416A>C (p.Lys139Thr) c.393A>C n.521A>C c.380A>C (p.Lys127Thr) c.-414A>C (n.-414A>C) c.35A>C (p.Lys12Thr) c.521A>C (p.Lys174Thr) | |
| 8 | g.132180192T>A | CA372290725 | KCNQ3 | c.742A>T (p.Lys248Ter) c.382A>T (p.Lys128Ter) c.415A>T (p.Lys139Ter) c.392A>T n.520A>T c.379A>T (p.Lys127Ter) c.-415A>T (n.-415A>T) c.34A>T (p.Lys12Ter) c.520A>T (p.Lys174Ter) | |
| 8 | g.132180192T>C | CA372290726 | KCNQ3 | c.742A>G (p.Lys248Glu) c.382A>G (p.Lys128Glu) c.415A>G (p.Lys139Glu) c.392A>G n.520A>G c.379A>G (p.Lys127Glu) c.-415A>G (n.-415A>G) c.34A>G (p.Lys12Glu) c.520A>G (p.Lys174Glu) | |
| 8 | g.132180192T>G | CA372290727 | KCNQ3 | c.742A>C (p.Lys248Gln) c.382A>C (p.Lys128Gln) c.415A>C (p.Lys139Gln) c.392A>C n.520A>C c.379A>C (p.Lys127Gln) c.-415A>C (n.-415A>C) c.34A>C (p.Lys12Gln) c.520A>C (p.Lys174Gln) | |
| 8 | g.132180193C>A | CA372290728 | KCNQ3 | c.741G>T (p.Trp247Cys) c.381G>T (p.Trp127Cys) c.414G>T (p.Trp138Cys) c.391G>T n.519G>T c.378G>T (p.Trp126Cys) c.-416G>T (n.-416G>T) c.33G>T (p.Trp11Cys) c.519G>T (p.Trp173Cys) | |
| 8 | g.132180193C>G | CA372290729 | KCNQ3 | c.741G>C (p.Trp247Cys) c.381G>C (p.Trp127Cys) c.414G>C (p.Trp138Cys) c.391G>C n.519G>C c.378G>C (p.Trp126Cys) c.-416G>C (n.-416G>C) c.33G>C (p.Trp11Cys) c.519G>C (p.Trp173Cys) | |
| 8 | g.132180193C>T | CA372290730 | KCNQ3 | c.741G>A (p.Trp247Ter) c.381G>A (p.Trp127Ter) c.414G>A (p.Trp138Ter) c.391G>A n.519G>A c.378G>A (p.Trp126Ter) c.-416G>A (n.-416G>A) c.33G>A (p.Trp11Ter) c.519G>A (p.Trp173Ter) | COSMIC |
| 8 | g.132180194C>A | CA372290733 | KCNQ3 | c.740G>T (p.Trp247Leu) c.380G>T (p.Trp127Leu) c.413G>T (p.Trp138Leu) c.390G>T n.518G>T c.377G>T (p.Trp126Leu) c.-417G>T (n.-417G>T) c.32G>T (p.Trp11Leu) c.518G>T (p.Trp173Leu) | |
| 8 | g.132180194C>G | CA372290732 | KCNQ3 | c.740G>C (p.Trp247Ser) c.380G>C (p.Trp127Ser) c.413G>C (p.Trp138Ser) c.390G>C n.518G>C c.377G>C (p.Trp126Ser) c.-417G>C (n.-417G>C) c.32G>C (p.Trp11Ser) c.518G>C (p.Trp173Ser) | |
| 8 | g.132180194C>T | CA372290731 | KCNQ3 | c.740G>A (p.Trp247Ter) c.380G>A (p.Trp127Ter) c.413G>A (p.Trp138Ter) c.390G>A n.518G>A c.377G>A (p.Trp126Ter) c.-417G>A (n.-417G>A) c.32G>A (p.Trp11Ter) c.518G>A (p.Trp173Ter) | COSMIC |
| 8 | g.132180195A>C | CA372290734 | KCNQ3 | c.739T>G (p.Trp247Gly) c.379T>G (p.Trp127Gly) c.412T>G (p.Trp138Gly) c.389T>G n.517T>G c.376T>G (p.Trp126Gly) c.-418T>G (n.-418T>G) c.31T>G (p.Trp11Gly) c.517T>G (p.Trp173Gly) | |
| 8 | g.132180195A>G | CA372290736 | KCNQ3 | c.739T>C (p.Trp247Arg) c.379T>C (p.Trp127Arg) c.412T>C (p.Trp138Arg) c.389T>C n.517T>C c.376T>C (p.Trp126Arg) c.-418T>C (n.-418T>C) c.31T>C (p.Trp11Arg) c.517T>C (p.Trp173Arg) | dbSNP |
| 8 | g.132180195A>T | CA372290735 | KCNQ3 | c.739T>A (p.Trp247Arg) c.379T>A (p.Trp127Arg) c.412T>A (p.Trp138Arg) c.389T>A n.517T>A c.376T>A (p.Trp126Arg) c.-418T>A (n.-418T>A) c.31T>A (p.Trp11Arg) c.517T>A (p.Trp173Arg) | |
| 8 | g.132180196G>A | CA463070479 | KCNQ3 | c.738C>T (p.Thr246=) c.378C>T (p.Thr126=) c.411C>T (p.Thr137=) c.388C>T n.516C>T c.375C>T (p.Thr125=) c.-419C>T (n.-419C>T) c.30C>T (p.Thr10=) c.516C>T (p.Thr172=) | |
| 8 | g.132180196G>C | CA463070480 | KCNQ3 | c.738C>G (p.Thr246=) c.378C>G (p.Thr126=) c.411C>G (p.Thr137=) c.388C>G n.516C>G c.375C>G (p.Thr125=) c.-419C>G (n.-419C>G) c.30C>G (p.Thr10=) c.516C>G (p.Thr172=) | ClinVar dbSNP |
| 8 | g.132180196G= | CA1820666586 | KCNQ3 | c.738C= (p.Thr246=) c.378C= (p.Thr126=) c.411C= (p.Thr137=) c.388C= n.516C= c.375C= (p.Thr125=) c.-419C= (n.-419C=) c.30C= (p.Thr10=) c.516C= (p.Thr172=) | |
| 8 | g.132180196G>T | CA463070481 | KCNQ3 | c.738C>A (p.Thr246=) c.378C>A (p.Thr126=) c.411C>A (p.Thr137=) c.388C>A n.516C>A c.375C>A (p.Thr125=) c.-419C>A (n.-419C>A) c.30C>A (p.Thr10=) c.516C>A (p.Thr172=) | |
| 8 | g.132180197G>A | CA4880860 | KCNQ3 | c.737C>T (p.Thr246Ile) c.377C>T (p.Thr126Ile) c.410C>T (p.Thr137Ile) c.387C>T n.515C>T c.374C>T (p.Thr125Ile) c.-420C>T (n.-420C>T) c.29C>T (p.Thr10Ile) c.515C>T (p.Thr172Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132180197G>C | CA372290737 | KCNQ3 | c.737C>G (p.Thr246Ser) c.377C>G (p.Thr126Ser) c.410C>G (p.Thr137Ser) c.387C>G n.515C>G c.374C>G (p.Thr125Ser) c.-420C>G (n.-420C>G) c.29C>G (p.Thr10Ser) c.515C>G (p.Thr172Ser) | |
| 8 | g.132180197G= | CA1820666587 | KCNQ3 | c.737C= (p.Thr246=) c.377C= (p.Thr126=) c.410C= (p.Thr137=) c.387C= n.515C= c.374C= (p.Thr125=) c.-420C= (n.-420C=) c.29C= (p.Thr10=) c.515C= (p.Thr172=) | |
| 8 | g.132180197G>T | CA372290738 | KCNQ3 | c.737C>A (p.Thr246Asn) c.377C>A (p.Thr126Asn) c.410C>A (p.Thr137Asn) c.387C>A n.515C>A c.374C>A (p.Thr125Asn) c.-420C>A (n.-420C>A) c.29C>A (p.Thr10Asn) c.515C>A (p.Thr172Asn) | |
| 8 | g.132180198T>A | CA372290739 | KCNQ3 | c.736A>T (p.Thr246Ser) c.376A>T (p.Thr126Ser) c.409A>T (p.Thr137Ser) c.386A>T n.514A>T c.373A>T (p.Thr125Ser) c.-421A>T (n.-421A>T) c.28A>T (p.Thr10Ser) c.514A>T (p.Thr172Ser) | |
| 8 | g.132180198T>C | CA372290740 | KCNQ3 | c.736A>G (p.Thr246Ala) c.376A>G (p.Thr126Ala) c.409A>G (p.Thr137Ala) c.386A>G n.514A>G c.373A>G (p.Thr125Ala) c.-421A>G (n.-421A>G) c.28A>G (p.Thr10Ala) c.514A>G (p.Thr172Ala) | |
| 8 | g.132180198T>G | CA372290741 | KCNQ3 | c.736A>C (p.Thr246Pro) c.376A>C (p.Thr126Pro) c.409A>C (p.Thr137Pro) c.386A>C n.514A>C c.373A>C (p.Thr125Pro) c.-421A>C (n.-421A>C) c.28A>C (p.Thr10Pro) c.514A>C (p.Thr172Pro) | |
| 8 | g.132180199G>A | CA463070482 | KCNQ3 | c.735C>T (p.Gly245=) c.375C>T (p.Gly125=) c.408C>T (p.Gly136=) c.385C>T n.513C>T c.372C>T (p.Gly124=) c.-422C>T (n.-422C>T) c.27C>T (p.Gly9=) c.513C>T (p.Gly171=) | |
| 8 | g.132180199G>C | CA463070483 | KCNQ3 | c.735C>G (p.Gly245=) c.375C>G (p.Gly125=) c.408C>G (p.Gly136=) c.385C>G n.513C>G c.372C>G (p.Gly124=) c.-422C>G (n.-422C>G) c.27C>G (p.Gly9=) c.513C>G (p.Gly171=) | |
| 8 | g.132180199G>T | CA463070484 | KCNQ3 | c.735C>A (p.Gly245=) c.375C>A (p.Gly125=) c.408C>A (p.Gly136=) c.385C>A n.513C>A c.372C>A (p.Gly124=) c.-422C>A (n.-422C>A) c.27C>A (p.Gly9=) c.513C>A (p.Gly171=) | gnomAD v4 |
| 8 | g.132180200C>A | CA372290742 | KCNQ3 | c.734G>T (p.Gly245Val) c.374G>T (p.Gly125Val) c.407G>T (p.Gly136Val) c.384G>T n.512G>T c.371G>T (p.Gly124Val) c.-423G>T (n.-423G>T) c.26G>T (p.Gly9Val) c.512G>T (p.Gly171Val) | |
| 8 | g.132180200C>G | CA372290743 | KCNQ3 | c.734G>C (p.Gly245Ala) c.374G>C (p.Gly125Ala) c.407G>C (p.Gly136Ala) c.384G>C n.512G>C c.371G>C (p.Gly124Ala) c.-423G>C (n.-423G>C) c.26G>C (p.Gly9Ala) c.512G>C (p.Gly171Ala) | |
| 8 | g.132180200C>T | CA372290744 | KCNQ3 | c.734G>A (p.Gly245Asp) c.374G>A (p.Gly125Asp) c.407G>A (p.Gly136Asp) c.384G>A n.512G>A c.371G>A (p.Gly124Asp) c.-423G>A (n.-423G>A) c.26G>A (p.Gly9Asp) c.512G>A (p.Gly171Asp) | |
| 8 | g.132180201C>A | CA372290745 | KCNQ3 | c.733G>T (p.Gly245Cys) c.373G>T (p.Gly125Cys) c.406G>T (p.Gly136Cys) c.383G>T n.511G>T c.370G>T (p.Gly124Cys) c.-424G>T (n.-424G>T) c.25G>T (p.Gly9Cys) c.511G>T (p.Gly171Cys) | |
| 8 | g.132180201C>G | CA372290746 | KCNQ3 | c.733G>C (p.Gly245Arg) c.373G>C (p.Gly125Arg) c.406G>C (p.Gly136Arg) c.383G>C n.511G>C c.370G>C (p.Gly124Arg) c.-424G>C (n.-424G>C) c.25G>C (p.Gly9Arg) c.511G>C (p.Gly171Arg) | |
| 8 | g.132180201C>T | CA372290747 | KCNQ3 | c.733G>A (p.Gly245Ser) c.373G>A (p.Gly125Ser) c.406G>A (p.Gly136Ser) c.383G>A n.511G>A c.370G>A (p.Gly124Ser) c.-424G>A (n.-424G>A) c.25G>A (p.Gly9Ser) c.511G>A (p.Gly171Ser) | |
| 8 | g.132180202A= | CA1630835221 | KCNQ3 | c.732T= (p.Gly244=) c.372T= (p.Gly124=) c.405T= (p.Gly135=) c.382T= n.510T= c.369T= (p.Gly123=) c.-425T= (n.-425T=) c.24T= (p.Gly8=) c.510T= (p.Gly170=) | |
| 8 | g.132180202A>C | CA463070485 | KCNQ3 | c.732T>G (p.Gly244=) c.372T>G (p.Gly124=) c.405T>G (p.Gly135=) c.382T>G n.510T>G c.369T>G (p.Gly123=) c.-425T>G (n.-425T>G) c.24T>G (p.Gly8=) c.510T>G (p.Gly170=) | dbSNP |
| 8 | g.132180202A>G | CA153301 | KCNQ3 | c.732T>C (p.Gly244=) c.372T>C (p.Gly124=) c.405T>C (p.Gly135=) c.382T>C n.510T>C c.369T>C (p.Gly123=) c.-425T>C (n.-425T>C) c.24T>C (p.Gly8=) c.510T>C (p.Gly170=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132180202A>T | CA463070486 | KCNQ3 | c.732T>A (p.Gly244=) c.372T>A (p.Gly124=) c.405T>A (p.Gly135=) c.382T>A n.510T>A c.369T>A (p.Gly123=) c.-425T>A (n.-425T>A) c.24T>A (p.Gly8=) c.510T>A (p.Gly170=) | |
| 8 | g.132180203C>A | CA372290748 | KCNQ3 | c.731G>T (p.Gly244Val) c.371G>T (p.Gly124Val) c.404G>T (p.Gly135Val) c.381G>T n.509G>T c.368G>T (p.Gly123Val) c.-426G>T (n.-426G>T) c.23G>T (p.Gly8Val) c.509G>T (p.Gly170Val) | gnomAD v4 |
| 8 | g.132180203C>G | CA372290750 | KCNQ3 | c.731G>C (p.Gly244Ala) c.371G>C (p.Gly124Ala) c.404G>C (p.Gly135Ala) c.381G>C n.509G>C c.368G>C (p.Gly123Ala) c.-426G>C (n.-426G>C) c.23G>C (p.Gly8Ala) c.509G>C (p.Gly170Ala) | gnomAD v4 |
| 8 | g.132180203C>T | CA372290749 | KCNQ3 | c.731G>A (p.Gly244Asp) c.371G>A (p.Gly124Asp) c.404G>A (p.Gly135Asp) c.381G>A n.509G>A c.368G>A (p.Gly123Asp) c.-426G>A (n.-426G>A) c.23G>A (p.Gly8Asp) c.509G>A (p.Gly170Asp) | |
| 8 | g.132180204C>A | CA372290751 | KCNQ3 | c.730G>T (p.Gly244Cys) c.370G>T (p.Gly124Cys) c.403G>T (p.Gly135Cys) c.380G>T n.508G>T c.367G>T (p.Gly123Cys) c.-427G>T (n.-427G>T) c.22G>T (p.Gly8Cys) c.508G>T (p.Gly170Cys) | COSMIC |
| 8 | g.132180204C>G | CA372290752 | KCNQ3 | c.730G>C (p.Gly244Arg) c.370G>C (p.Gly124Arg) c.403G>C (p.Gly135Arg) c.380G>C n.508G>C c.367G>C (p.Gly123Arg) c.-427G>C (n.-427G>C) c.22G>C (p.Gly8Arg) c.508G>C (p.Gly170Arg) | |
| 8 | g.132180204C>T | CA372290753 | KCNQ3 | c.730G>A (p.Gly244Ser) c.370G>A (p.Gly124Ser) c.403G>A (p.Gly135Ser) c.380G>A n.508G>A c.367G>A (p.Gly123Ser) c.-427G>A (n.-427G>A) c.22G>A (p.Gly8Ser) c.508G>A (p.Gly170Ser) | |
| 8 | g.132180205T>A | CA372290754 | KCNQ3 | c.729A>T (p.Arg243Ser) c.369A>T (p.Arg123Ser) c.402A>T (p.Arg134Ser) c.379A>T n.507A>T c.366A>T (p.Arg122Ser) c.-428A>T (n.-428A>T) c.21A>T (p.Arg7Ser) c.507A>T (p.Arg169Ser) | |
| 8 | g.132180205T>C | CA463070487 | KCNQ3 | c.729A>G (p.Arg243=) c.369A>G (p.Arg123=) c.402A>G (p.Arg134=) c.379A>G n.507A>G c.366A>G (p.Arg122=) c.-428A>G (n.-428A>G) c.21A>G (p.Arg7=) c.507A>G (p.Arg169=) | |
| 8 | g.132180205T>G | CA372290755 | KCNQ3 | c.729A>C (p.Arg243Ser) c.369A>C (p.Arg123Ser) c.402A>C (p.Arg134Ser) c.379A>C n.507A>C c.366A>C (p.Arg122Ser) c.-428A>C (n.-428A>C) c.21A>C (p.Arg7Ser) c.507A>C (p.Arg169Ser) | |
| 8 | g.132180206C>A | CA372290756 | KCNQ3 | c.728G>T (p.Arg243Ile) c.368G>T (p.Arg123Ile) c.401G>T (p.Arg134Ile) c.378G>T n.506G>T c.365G>T (p.Arg122Ile) c.-429G>T (n.-429G>T) c.20G>T (p.Arg7Ile) c.506G>T (p.Arg169Ile) | |
| 8 | g.132180206C>G | CA372290757 | KCNQ3 | c.728G>C (p.Arg243Thr) c.368G>C (p.Arg123Thr) c.401G>C (p.Arg134Thr) c.378G>C n.506G>C c.365G>C (p.Arg122Thr) c.-429G>C (n.-429G>C) c.20G>C (p.Arg7Thr) c.506G>C (p.Arg169Thr) | |
| 8 | g.132180206C>T | CA372290758 | KCNQ3 | c.728G>A (p.Arg243Lys) c.368G>A (p.Arg123Lys) c.401G>A (p.Arg134Lys) c.378G>A n.506G>A c.365G>A (p.Arg122Lys) c.-429G>A (n.-429G>A) c.20G>A (p.Arg7Lys) c.506G>A (p.Arg169Lys) | |
| 8 | g.132180207T>A | CA372290759 | KCNQ3 | c.727A>T (p.Arg243Ter) c.367A>T (p.Arg123Ter) c.400A>T (p.Arg134Ter) c.377A>T n.505A>T c.364A>T (p.Arg122Ter) c.-430A>T (n.-430A>T) c.19A>T (p.Arg7Ter) c.505A>T (p.Arg169Ter) | |
| 8 | g.132180207T>C | CA372290760 | KCNQ3 | c.727A>G (p.Arg243Gly) c.367A>G (p.Arg123Gly) c.400A>G (p.Arg134Gly) c.377A>G n.505A>G c.364A>G (p.Arg122Gly) c.-430A>G (n.-430A>G) c.19A>G (p.Arg7Gly) c.505A>G (p.Arg169Gly) | |
| 8 | g.132180207T>G | CA463070488 | KCNQ3 | c.727A>C (p.Arg243=) c.367A>C (p.Arg123=) c.400A>C (p.Arg134=) c.377A>C n.505A>C c.364A>C (p.Arg122=) c.-430A>C (n.-430A>C) c.19A>C (p.Arg7=) c.505A>C (p.Arg169=) | |
| 8 | g.132180208C>A | CA463070489 | KCNQ3 | c.726G>T (p.Arg242=) c.366G>T (p.Arg122=) c.399G>T (p.Arg133=) c.376G>T n.504G>T c.363G>T (p.Arg121=) c.-431G>T (n.-431G>T) c.18G>T (p.Arg6=) c.504G>T (p.Arg168=) | |
| 8 | g.132180208C>G | CA463070490 | KCNQ3 | c.726G>C (p.Arg242=) c.366G>C (p.Arg122=) c.399G>C (p.Arg133=) c.376G>C n.504G>C c.363G>C (p.Arg121=) c.-431G>C (n.-431G>C) c.18G>C (p.Arg6=) c.504G>C (p.Arg168=) | gnomAD v4 |
| 8 | g.132180208C>T | CA463070492 | KCNQ3 | c.726G>A (p.Arg242=) c.366G>A (p.Arg122=) c.399G>A (p.Arg133=) c.376G>A n.504G>A c.363G>A (p.Arg121=) c.-431G>A (n.-431G>A) c.18G>A (p.Arg6=) c.504G>A (p.Arg168=) | |
| 8 | g.132180209C>A | CA372290763 | KCNQ3 | c.725G>T (p.Arg242Leu) c.365G>T (p.Arg122Leu) c.398G>T (p.Arg133Leu) c.375G>T n.503G>T c.362G>T (p.Arg121Leu) c.-432G>T (n.-432G>T) c.17G>T (p.Arg6Leu) c.503G>T (p.Arg168Leu) | |
| 8 | g.132180209C= | CA1820666588 | KCNQ3 | c.725G= (p.Arg242=) c.365G= (p.Arg122=) c.398G= (p.Arg133=) c.375G= n.503G= c.362G= (p.Arg121=) c.-432G= (n.-432G=) c.17G= (p.Arg6=) c.503G= (p.Arg168=) | |
| 8 | g.132180209C>G | CA372290762 | KCNQ3 | c.725G>C (p.Arg242Pro) c.365G>C (p.Arg122Pro) c.398G>C (p.Arg133Pro) c.375G>C n.503G>C c.362G>C (p.Arg121Pro) c.-432G>C (n.-432G>C) c.17G>C (p.Arg6Pro) c.503G>C (p.Arg168Pro) | |
| 8 | g.132180209C>T | CA372290761 | KCNQ3 | c.725G>A (p.Arg242Gln) c.365G>A (p.Arg122Gln) c.398G>A (p.Arg133Gln) c.375G>A n.503G>A c.362G>A (p.Arg121Gln) c.-432G>A (n.-432G>A) c.17G>A (p.Arg6Gln) c.503G>A (p.Arg168Gln) | ClinVar dbSNP |
| 8 | g.132180210G>A | CA372290764 | KCNQ3 | c.724C>T (p.Arg242Trp) c.364C>T (p.Arg122Trp) c.397C>T (p.Arg133Trp) c.374C>T n.502C>T c.361C>T (p.Arg121Trp) c.-433C>T (n.-433C>T) c.16C>T (p.Arg6Trp) c.502C>T (p.Arg168Trp) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132180210G>C | CA372290765 | KCNQ3 | c.724C>G (p.Arg242Gly) c.364C>G (p.Arg122Gly) c.397C>G (p.Arg133Gly) c.374C>G n.502C>G c.361C>G (p.Arg121Gly) c.-433C>G (n.-433C>G) c.16C>G (p.Arg6Gly) c.502C>G (p.Arg168Gly) | |
| 8 | g.132180210G>T | CA463070493 | KCNQ3 | c.724C>A (p.Arg242=) c.364C>A (p.Arg122=) c.397C>A (p.Arg133=) c.374C>A n.502C>A c.361C>A (p.Arg121=) c.-433C>A (n.-433C>A) c.16C>A (p.Arg6=) c.502C>A (p.Arg168=) | |
| 8 | g.132180211G>A | CA463070494 | KCNQ3 | c.723C>T (p.Asp241=) c.363C>T (p.Asp121=) c.396C>T (p.Asp132=) c.373C>T n.501C>T c.360C>T (p.Asp120=) c.-434C>T (n.-434C>T) c.15C>T (p.Asp5=) c.501C>T (p.Asp167=) | ClinVar dbSNP COSMIC |
| 8 | g.132180211G>C | CA372290766 | KCNQ3 | c.723C>G (p.Asp241Glu) c.363C>G (p.Asp121Glu) c.396C>G (p.Asp132Glu) c.373C>G n.501C>G c.360C>G (p.Asp120Glu) c.-434C>G (n.-434C>G) c.15C>G (p.Asp5Glu) c.501C>G (p.Asp167Glu) | |
| 8 | g.132180211G= | CA1820666589 | KCNQ3 | c.723C= (p.Asp241=) c.363C= (p.Asp121=) c.396C= (p.Asp132=) c.373C= n.501C= c.360C= (p.Asp120=) c.-434C= (n.-434C=) c.15C= (p.Asp5=) c.501C= (p.Asp167=) | |
| 8 | g.132180211G>T | CA372290767 | KCNQ3 | c.723C>A (p.Asp241Glu) c.363C>A (p.Asp121Glu) c.396C>A (p.Asp132Glu) c.373C>A n.501C>A c.360C>A (p.Asp120Glu) c.-434C>A (n.-434C>A) c.15C>A (p.Asp5Glu) c.501C>A (p.Asp167Glu) | |
| 8 | g.132180212T>A | CA372290768 | KCNQ3 | c.722A>T (p.Asp241Val) c.362A>T (p.Asp121Val) c.395A>T (p.Asp132Val) c.372A>T n.500A>T c.359A>T (p.Asp120Val) c.-435A>T (n.-435A>T) c.14A>T (p.Asp5Val) c.500A>T (p.Asp167Val) | |
| 8 | g.132180212T>C | CA372290769 | KCNQ3 | c.722A>G (p.Asp241Gly) c.362A>G (p.Asp121Gly) c.395A>G (p.Asp132Gly) c.372A>G n.500A>G c.359A>G (p.Asp120Gly) c.-435A>G (n.-435A>G) c.14A>G (p.Asp5Gly) c.500A>G (p.Asp167Gly) | |
| 8 | g.132180212T>G | CA372290770 | KCNQ3 | c.722A>C (p.Asp241Ala) c.362A>C (p.Asp121Ala) c.395A>C (p.Asp132Ala) c.372A>C n.500A>C c.359A>C (p.Asp120Ala) c.-435A>C (n.-435A>C) c.14A>C (p.Asp5Ala) c.500A>C (p.Asp167Ala) | |
| 8 | g.132180213C>A | CA372290771 | KCNQ3 | c.721G>T (p.Asp241Tyr) c.361G>T (p.Asp121Tyr) c.394G>T (p.Asp132Tyr) c.371G>T n.499G>T c.358G>T (p.Asp120Tyr) c.-436G>T (n.-436G>T) c.13G>T (p.Asp5Tyr) c.499G>T (p.Asp167Tyr) | COSMIC |
| 8 | g.132180213C>G | CA372290772 | KCNQ3 | c.721G>C (p.Asp241His) c.361G>C (p.Asp121His) c.394G>C (p.Asp132His) c.371G>C n.499G>C c.358G>C (p.Asp120His) c.-436G>C (n.-436G>C) c.13G>C (p.Asp5His) c.499G>C (p.Asp167His) | |
| 8 | g.132180213C>T | CA372290773 | KCNQ3 | c.721G>A (p.Asp241Asn) c.361G>A (p.Asp121Asn) c.394G>A (p.Asp132Asn) c.371G>A n.499G>A c.358G>A (p.Asp120Asn) c.-436G>A (n.-436G>A) c.13G>A (p.Asp5Asn) c.499G>A (p.Asp167Asn) | |
| 8 | g.132180214C>A | CA372290774 | KCNQ3 | c.720G>T (p.Met240Ile) c.360G>T (p.Met120Ile) c.393G>T (p.Met131Ile) c.370G>T n.498G>T c.357G>T (p.Met119Ile) c.-437G>T (n.-437G>T) c.12G>T (p.Met4Ile) c.498G>T (p.Met166Ile) | |
| 8 | g.132180214C>G | CA372290775 | KCNQ3 | c.720G>C (p.Met240Ile) c.360G>C (p.Met120Ile) c.393G>C (p.Met131Ile) c.370G>C n.498G>C c.357G>C (p.Met119Ile) c.-437G>C (n.-437G>C) c.12G>C (p.Met4Ile) c.498G>C (p.Met166Ile) | |
| 8 | g.132180214C>T | CA372290776 | KCNQ3 | c.720G>A (p.Met240Ile) c.360G>A (p.Met120Ile) c.393G>A (p.Met131Ile) c.370G>A n.498G>A c.357G>A (p.Met119Ile) c.-437G>A (n.-437G>A) c.12G>A (p.Met4Ile) c.498G>A (p.Met166Ile) | ClinVar |
| 8 | g.132180215A>C | CA372290779 | KCNQ3 | c.719T>G (p.Met240Arg) c.359T>G (p.Met120Arg) c.392T>G (p.Met131Arg) c.369T>G n.497T>G c.356T>G (p.Met119Arg) c.-438T>G (n.-438T>G) c.11T>G (p.Met4Arg) c.497T>G (p.Met166Arg) | |
| 8 | g.132180215A>G | CA372290777 | KCNQ3 | c.719T>C (p.Met240Thr) c.359T>C (p.Met120Thr) c.392T>C (p.Met131Thr) c.369T>C n.497T>C c.356T>C (p.Met119Thr) c.-438T>C (n.-438T>C) c.11T>C (p.Met4Thr) c.497T>C (p.Met166Thr) | |
| 8 | g.132180215A>T | CA372290778 | KCNQ3 | c.719T>A (p.Met240Lys) c.359T>A (p.Met120Lys) c.392T>A (p.Met131Lys) c.369T>A n.497T>A c.356T>A (p.Met119Lys) c.-438T>A (n.-438T>A) c.11T>A (p.Met4Lys) c.497T>A (p.Met166Lys) | |
| 8 | g.132180216T>A | CA372290780 | KCNQ3 | c.718A>T (p.Met240Leu) c.358A>T (p.Met120Leu) c.391A>T (p.Met131Leu) c.368A>T n.496A>T c.355A>T (p.Met119Leu) c.-439A>T (n.-439A>T) c.10A>T (p.Met4Leu) c.496A>T (p.Met166Leu) | |
| 8 | g.132180216T>C | CA372290781 | KCNQ3 | c.718A>G (p.Met240Val) c.358A>G (p.Met120Val) c.391A>G (p.Met131Val) c.368A>G n.496A>G c.355A>G (p.Met119Val) c.-439A>G (n.-439A>G) c.10A>G (p.Met4Val) c.496A>G (p.Met166Val) | |
| 8 | g.132180216T>G | CA372290782 | KCNQ3 | c.718A>C (p.Met240Leu) c.358A>C (p.Met120Leu) c.391A>C (p.Met131Leu) c.368A>C n.496A>C c.355A>C (p.Met119Leu) c.-439A>C (n.-439A>C) c.10A>C (p.Met4Leu) c.496A>C (p.Met166Leu) | |
| 8 | g.132180217C>A | CA463070495 | KCNQ3 | c.717G>T (p.Arg239=) c.357G>T (p.Arg119=) c.390G>T (p.Arg130=) c.367G>T n.495G>T c.354G>T (p.Arg118=) c.-440G>T (n.-440G>T) c.9G>T (p.Arg3=) c.495G>T (p.Arg165=) | COSMIC |
| 8 | g.132180217C>G | CA463070496 | KCNQ3 | c.717G>C (p.Arg239=) c.357G>C (p.Arg119=) c.390G>C (p.Arg130=) c.367G>C n.495G>C c.354G>C (p.Arg118=) c.-440G>C (n.-440G>C) c.9G>C (p.Arg3=) c.495G>C (p.Arg165=) | |
| 8 | g.132180217C>T | CA463070497 | KCNQ3 | c.717G>A (p.Arg239=) c.357G>A (p.Arg119=) c.390G>A (p.Arg130=) c.367G>A n.495G>A c.354G>A (p.Arg118=) c.-440G>A (n.-440G>A) c.9G>A (p.Arg3=) c.495G>A (p.Arg165=) | ClinVar dbSNP |
| 8 | g.132180218C>A | CA372290783 | KCNQ3 | c.716G>T (p.Arg239Leu) c.356G>T (p.Arg119Leu) c.389G>T (p.Arg130Leu) c.366G>T n.494G>T c.353G>T (p.Arg118Leu) c.-441G>T (n.-441G>T) c.8G>T (p.Arg3Leu) c.494G>T (p.Arg165Leu) | |
| 8 | g.132180218C= | CA1820666590 | KCNQ3 | c.716G= (p.Arg239=) c.356G= (p.Arg119=) c.389G= (p.Arg130=) c.366G= n.494G= c.353G= (p.Arg118=) c.-441G= (n.-441G=) c.8G= (p.Arg3=) c.494G= (p.Arg165=) | |
| 8 | g.132180218C>G | CA372290784 | KCNQ3 | c.716G>C (p.Arg239Pro) c.356G>C (p.Arg119Pro) c.389G>C (p.Arg130Pro) c.366G>C n.494G>C c.353G>C (p.Arg118Pro) c.-441G>C (n.-441G>C) c.8G>C (p.Arg3Pro) c.494G>C (p.Arg165Pro) | |
| 8 | g.132180218C>T | CA372290785 | KCNQ3 | c.716G>A (p.Arg239Gln) c.356G>A (p.Arg119Gln) c.389G>A (p.Arg130Gln) c.366G>A n.494G>A c.353G>A (p.Arg118Gln) c.-441G>A (n.-441G>A) c.8G>A (p.Arg3Gln) c.494G>A (p.Arg165Gln) | ClinVar dbSNP gnomAD v4 |
| 8 | g.132180219G>A | CA372290786 | KCNQ3 | c.715C>T (p.Arg239Trp) c.355C>T (p.Arg119Trp) c.388C>T (p.Arg130Trp) c.365C>T n.493C>T c.352C>T (p.Arg118Trp) c.-442C>T (n.-442C>T) c.7C>T (p.Arg3Trp) c.493C>T (p.Arg165Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.132180219G>C | CA372290787 | KCNQ3 | c.715C>G (p.Arg239Gly) c.355C>G (p.Arg119Gly) c.388C>G (p.Arg130Gly) c.365C>G n.493C>G c.352C>G (p.Arg118Gly) c.-442C>G (n.-442C>G) c.7C>G (p.Arg3Gly) c.493C>G (p.Arg165Gly) | |
| 8 | g.132180219G= | CA1820666591 | KCNQ3 | c.715C= (p.Arg239=) c.355C= (p.Arg119=) c.388C= (p.Arg130=) c.365C= n.493C= c.352C= (p.Arg118=) c.-442C= (n.-442C=) c.7C= (p.Arg3=) c.493C= (p.Arg165=) | |
| 8 | g.132180219G>T | CA463070498 | KCNQ3 | c.715C>A (p.Arg239=) c.355C>A (p.Arg119=) c.388C>A (p.Arg130=) c.365C>A n.493C>A c.352C>A (p.Arg118=) c.-442C>A (n.-442C>A) c.7C>A (p.Arg3=) c.493C>A (p.Arg165=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132180220C>A | CA463070499 | KCNQ3 | c.714G>T (p.Leu238=) c.354G>T (p.Leu118=) c.387G>T (p.Leu129=) c.364G>T n.492G>T c.351G>T (p.Leu117=) c.-443G>T (n.-443G>T) c.6G>T (p.Leu2=) c.492G>T (p.Leu164=) | |
| 8 | g.132180220C= | CA1820666592 | KCNQ3 | c.714G= (p.Leu238=) c.354G= (p.Leu118=) c.387G= (p.Leu129=) c.364G= n.492G= c.351G= (p.Leu117=) c.-443G= (n.-443G=) c.6G= (p.Leu2=) c.492G= (p.Leu164=) | |
| 8 | g.132180220C>G | CA463070500 | KCNQ3 | c.714G>C (p.Leu238=) c.354G>C (p.Leu118=) c.387G>C (p.Leu129=) c.364G>C n.492G>C c.351G>C (p.Leu117=) c.-443G>C (n.-443G>C) c.6G>C (p.Leu2=) c.492G>C (p.Leu164=) | |
| 8 | g.132180220C>T | CA4880861 | KCNQ3 | c.714G>A (p.Leu238=) c.354G>A (p.Leu118=) c.387G>A (p.Leu129=) c.364G>A n.492G>A c.351G>A (p.Leu117=) c.-443G>A (n.-443G>A) c.6G>A (p.Leu2=) c.492G>A (p.Leu164=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132180221A>C | CA372290788 | KCNQ3 | c.713T>G (p.Leu238Arg) c.353T>G (p.Leu118Arg) c.386T>G (p.Leu129Arg) c.363T>G n.491T>G c.350T>G (p.Leu117Arg) c.-444T>G (n.-444T>G) c.5T>G (p.Leu2Arg) c.491T>G (p.Leu164Arg) | |
| 8 | g.132180221A>G | CA372290789 | KCNQ3 | c.713T>C (p.Leu238Pro) c.353T>C (p.Leu118Pro) c.386T>C (p.Leu129Pro) c.363T>C n.491T>C c.350T>C (p.Leu117Pro) c.-444T>C (n.-444T>C) c.5T>C (p.Leu2Pro) c.491T>C (p.Leu164Pro) | |
| 8 | g.132180221A>T | CA372290790 | KCNQ3 | c.713T>A (p.Leu238Gln) c.353T>A (p.Leu118Gln) c.386T>A (p.Leu129Gln) c.363T>A n.491T>A c.350T>A (p.Leu117Gln) c.-444T>A (n.-444T>A) c.5T>A (p.Leu2Gln) c.491T>A (p.Leu164Gln) | |
| 8 | g.132180222G>A | CA463070501 | KCNQ3 | c.712C>T (p.Leu238=) c.352C>T (p.Leu118=) c.385C>T (p.Leu129=) c.362C>T n.490C>T c.349C>T (p.Leu117=) c.-445C>T (n.-445C>T) c.4C>T (p.Leu2=) c.490C>T (p.Leu164=) | |
| 8 | g.132180222G>C | CA372290792 | KCNQ3 | c.712C>G (p.Leu238Val) c.352C>G (p.Leu118Val) c.385C>G (p.Leu129Val) c.362C>G n.490C>G c.349C>G (p.Leu117Val) c.-445C>G (n.-445C>G) c.4C>G (p.Leu2Val) c.490C>G (p.Leu164Val) | |
| 8 | g.132180222G>T | CA372290791 | KCNQ3 | c.712C>A (p.Leu238Met) c.352C>A (p.Leu118Met) c.385C>A (p.Leu129Met) c.362C>A n.490C>A c.349C>A (p.Leu117Met) c.-445C>A (n.-445C>A) c.4C>A (p.Leu2Met) c.490C>A (p.Leu164Met) | |
| 8 | g.132180223C>A | CA372290793 | KCNQ3 | c.711G>T (p.Met237Ile) c.351G>T (p.Met117Ile) c.384G>T (p.Met128Ile) c.361G>T n.489G>T c.348G>T (p.Met116Ile) c.-446G>T (n.-446G>T) c.3G>T (p.Met1Ile) c.489G>T (p.Met163Ile) | |
| 8 | g.132180223C>G | CA372290794 | KCNQ3 | c.711G>C (p.Met237Ile) c.351G>C (p.Met117Ile) c.384G>C (p.Met128Ile) c.361G>C n.489G>C c.348G>C (p.Met116Ile) c.-446G>C (n.-446G>C) c.3G>C (p.Met1Ile) c.489G>C (p.Met163Ile) | |
| 8 | g.132180223C>T | CA372290795 | KCNQ3 | c.711G>A (p.Met237Ile) c.351G>A (p.Met117Ile) c.384G>A (p.Met128Ile) c.361G>A n.489G>A c.348G>A (p.Met116Ile) c.-446G>A (n.-446G>A) c.3G>A (p.Met1Ile) c.489G>A (p.Met163Ile) | |
| 8 | g.132180224A>C | CA372290796 | KCNQ3 | c.710T>G (p.Met237Arg) c.350T>G (p.Met117Arg) c.383T>G (p.Met128Arg) c.360T>G n.488T>G c.347T>G (p.Met116Arg) c.-447T>G (n.-447T>G) c.2T>G (p.Met1Arg) c.488T>G (p.Met163Arg) | |
| 8 | g.132180224A>G | CA372290797 | KCNQ3 | c.710T>C (p.Met237Thr) c.350T>C (p.Met117Thr) c.383T>C (p.Met128Thr) c.360T>C n.488T>C c.347T>C (p.Met116Thr) c.-447T>C (n.-447T>C) c.2T>C (p.Met1Thr) c.488T>C (p.Met163Thr) | |
| 8 | g.132180224A>T | CA372290798 | KCNQ3 | c.710T>A (p.Met237Lys) c.350T>A (p.Met117Lys) c.383T>A (p.Met128Lys) c.360T>A n.488T>A c.347T>A (p.Met116Lys) c.-447T>A (n.-447T>A) c.2T>A (p.Met1Lys) c.488T>A (p.Met163Lys) | ClinVar |
| 8 | g.132180225T>A | CA372290801 | KCNQ3 | c.709A>T (p.Met237Leu) c.349A>T (p.Met117Leu) c.382A>T (p.Met128Leu) c.359A>T n.487A>T c.346A>T (p.Met116Leu) c.-448A>T (n.-448A>T) c.1A>T (p.Met1Leu) c.487A>T (p.Met163Leu) | |
| 8 | g.132180225T>C | CA372290800 | KCNQ3 | c.709A>G (p.Met237Val) c.349A>G (p.Met117Val) c.382A>G (p.Met128Val) c.359A>G n.487A>G c.346A>G (p.Met116Val) c.-448A>G (n.-448A>G) c.1A>G (p.Met1Val) c.487A>G (p.Met163Val) | gnomAD v4 |
| 8 | g.132180225T>G | CA372290799 | KCNQ3 | c.709A>C (p.Met237Leu) c.349A>C (p.Met117Leu) c.382A>C (p.Met128Leu) c.359A>C n.487A>C c.346A>C (p.Met116Leu) c.-448A>C (n.-448A>C) c.1A>C (p.Met1Leu) c.487A>C (p.Met163Leu) | |
| 8 | g.132180226G>A | CA463070503 | KCNQ3 | c.708C>T (p.Arg236=) c.348C>T (p.Arg116=) c.381C>T (p.Arg127=) c.358C>T n.486C>T c.345C>T (p.Arg115=) c.-449C>T (n.-449C>T) c.-1C>T (n.-1C>T) c.486C>T (p.Arg162=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132180226G>C | CA463070504 | KCNQ3 | c.708C>G (p.Arg236=) c.348C>G (p.Arg116=) c.381C>G (p.Arg127=) c.358C>G n.486C>G c.345C>G (p.Arg115=) c.-449C>G (n.-449C>G) c.-1C>G (n.-1C>G) c.486C>G (p.Arg162=) | |
| 8 | g.132180226G= | CA1820666593 | KCNQ3 | c.708C= (p.Arg236=) c.348C= (p.Arg116=) c.381C= (p.Arg127=) c.358C= n.486C= c.345C= (p.Arg115=) c.-449C= (n.-449C=) c.-1C= (n.-1C=) c.486C= (p.Arg162=) | |
| 8 | g.132180226G>T | CA463070505 | KCNQ3 | c.708C>A (p.Arg236=) c.348C>A (p.Arg116=) c.381C>A (p.Arg127=) c.358C>A n.486C>A c.345C>A (p.Arg115=) c.-449C>A (n.-449C>A) c.-1C>A (n.-1C>A) c.486C>A (p.Arg162=) | |
| 8 | g.132180227C>A | CA4880862 | KCNQ3 | c.707G>T (p.Arg236Leu) c.347G>T (p.Arg116Leu) c.380G>T (p.Arg127Leu) c.357G>T n.485G>T c.344G>T (p.Arg115Leu) c.-450G>T (n.-450G>T) c.-2G>T (n.-2G>T) c.485G>T (p.Arg162Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.132180227C= | CA1820666594 | KCNQ3 | c.707G= (p.Arg236=) c.347G= (p.Arg116=) c.380G= (p.Arg127=) c.357G= n.485G= c.344G= (p.Arg115=) c.-450G= (n.-450G=) c.-2G= (n.-2G=) c.485G= (p.Arg162=) | |
| 8 | g.132180227C>G | CA372290802 | KCNQ3 | c.707G>C (p.Arg236Pro) c.347G>C (p.Arg116Pro) c.380G>C (p.Arg127Pro) c.357G>C n.485G>C c.344G>C (p.Arg115Pro) c.-450G>C (n.-450G>C) c.-2G>C (n.-2G>C) c.485G>C (p.Arg162Pro) | ClinVar |
| 8 | g.132180227C>T | CA372290803 | KCNQ3 | c.707G>A (p.Arg236His) c.347G>A (p.Arg116His) c.380G>A (p.Arg127His) c.357G>A n.485G>A c.344G>A (p.Arg115His) c.-450G>A (n.-450G>A) c.-2G>A (n.-2G>A) c.485G>A (p.Arg162His) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.132180228G>A | CA372290804 | KCNQ3 | c.706C>T (p.Arg236Cys) c.346C>T (p.Arg116Cys) c.379C>T (p.Arg127Cys) c.356C>T n.484C>T c.343C>T (p.Arg115Cys) c.-451C>T (n.-451C>T) c.-3C>T (n.-3C>T) c.484C>T (p.Arg162Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132180228G>C | CA372290805 | KCNQ3 | c.706C>G (p.Arg236Gly) c.346C>G (p.Arg116Gly) c.379C>G (p.Arg127Gly) c.356C>G n.484C>G c.343C>G (p.Arg115Gly) c.-451C>G (n.-451C>G) c.-3C>G (n.-3C>G) c.484C>G (p.Arg162Gly) | |
| 8 | g.132180228G= | CA1820666595 | KCNQ3 | c.706C= (p.Arg236=) c.346C= (p.Arg116=) c.379C= (p.Arg127=) c.356C= n.484C= c.343C= (p.Arg115=) c.-451C= (n.-451C=) c.-3C= (n.-3C=) c.484C= (p.Arg162=) | |
| 8 | g.132180228G>T | CA372290806 | KCNQ3 | c.706C>A (p.Arg236Ser) c.346C>A (p.Arg116Ser) c.379C>A (p.Arg127Ser) c.356C>A n.484C>A c.343C>A (p.Arg115Ser) c.-451C>A (n.-451C>A) c.-3C>A (n.-3C>A) c.484C>A (p.Arg162Ser) | gnomAD v4 |
| 8 | g.132180229C>A | CA463070506 | KCNQ3 | c.705G>T (p.Leu235=) c.345G>T (p.Leu115=) c.378G>T (p.Leu126=) c.355G>T n.483G>T c.342G>T (p.Leu114=) c.-452G>T (n.-452G>T) c.-4G>T (n.-4G>T) c.483G>T (p.Leu161=) | |
| 8 | g.132180229C>G | CA463070507 | KCNQ3 | c.705G>C (p.Leu235=) c.345G>C (p.Leu115=) c.378G>C (p.Leu126=) c.355G>C n.483G>C c.342G>C (p.Leu114=) c.-452G>C (n.-452G>C) c.-4G>C (n.-4G>C) c.483G>C (p.Leu161=) | |
| 8 | g.132180229C>T | CA463070508 | KCNQ3 | c.705G>A (p.Leu235=) c.345G>A (p.Leu115=) c.378G>A (p.Leu126=) c.355G>A n.483G>A c.342G>A (p.Leu114=) c.-452G>A (n.-452G>A) c.-4G>A (n.-4G>A) c.483G>A (p.Leu161=) | |
| 8 | g.132180230A>C | CA372290809 | KCNQ3 | c.704T>G (p.Leu235Arg) c.344T>G (p.Leu115Arg) c.377T>G (p.Leu126Arg) c.354T>G n.482T>G c.341T>G (p.Leu114Arg) c.-453T>G (n.-453T>G) c.-5T>G (n.-5T>G) c.482T>G (p.Leu161Arg) | |
| 8 | g.132180230A>G | CA372290807 | KCNQ3 | c.704T>C (p.Leu235Pro) c.344T>C (p.Leu115Pro) c.377T>C (p.Leu126Pro) c.354T>C n.482T>C c.341T>C (p.Leu114Pro) c.-453T>C (n.-453T>C) c.-5T>C (n.-5T>C) c.482T>C (p.Leu161Pro) | COSMIC |
| 8 | g.132180230A>T | CA372290808 | KCNQ3 | c.704T>A (p.Leu235Gln) c.344T>A (p.Leu115Gln) c.377T>A (p.Leu126Gln) c.354T>A n.482T>A c.341T>A (p.Leu114Gln) c.-453T>A (n.-453T>A) c.-5T>A (n.-5T>A) c.482T>A (p.Leu161Gln) | |
| 8 | g.132180231G>A | CA463070509 | KCNQ3 | c.703C>T (p.Leu235=) c.343C>T (p.Leu115=) c.376C>T (p.Leu126=) c.353C>T n.481C>T c.340C>T (p.Leu114=) c.-454C>T (n.-454C>T) c.-6C>T (n.-6C>T) c.481C>T (p.Leu161=) | |
| 8 | g.132180231G>C | CA372290810 | KCNQ3 | c.703C>G (p.Leu235Val) c.343C>G (p.Leu115Val) c.376C>G (p.Leu126Val) c.353C>G n.481C>G c.340C>G (p.Leu114Val) c.-454C>G (n.-454C>G) c.-6C>G (n.-6C>G) c.481C>G (p.Leu161Val) | |
| 8 | g.132180231G>T | CA372290811 | KCNQ3 | c.703C>A (p.Leu235Met) c.343C>A (p.Leu115Met) c.376C>A (p.Leu126Met) c.353C>A n.481C>A c.340C>A (p.Leu114Met) c.-454C>A (n.-454C>A) c.-6C>A (n.-6C>A) c.481C>A (p.Leu161Met) | |
| 8 | g.132180232G>A | CA463070510 | KCNQ3 | c.702C>T (p.Ile234=) c.342C>T (p.Ile114=) c.375C>T (p.Ile125=) c.352C>T n.480C>T c.339C>T (p.Ile113=) c.-455C>T (n.-455C>T) c.-7C>T (n.-7C>T) c.480C>T (p.Ile160=) | COSMIC |
| 8 | g.132180232G>C | CA372290812 | KCNQ3 | c.702C>G (p.Ile234Met) c.342C>G (p.Ile114Met) c.375C>G (p.Ile125Met) c.352C>G n.480C>G c.339C>G (p.Ile113Met) c.-455C>G (n.-455C>G) c.-7C>G (n.-7C>G) c.480C>G (p.Ile160Met) | |
| 8 | g.132180232G= | CA1820666596 | KCNQ3 | c.702C= (p.Ile234=) c.342C= (p.Ile114=) c.375C= (p.Ile125=) c.352C= n.480C= c.339C= (p.Ile113=) c.-455C= (n.-455C=) c.-7C= (n.-7C=) c.480C= (p.Ile160=) | |
| 8 | g.132180232G>T | CA463070511 | KCNQ3 | c.702C>A (p.Ile234=) c.342C>A (p.Ile114=) c.375C>A (p.Ile125=) c.352C>A n.480C>A c.339C>A (p.Ile113=) c.-455C>A (n.-455C>A) c.-7C>A (n.-7C>A) c.480C>A (p.Ile160=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.132180233A>C | CA372290813 | KCNQ3 | c.701T>G (p.Ile234Ser) c.341T>G (p.Ile114Ser) c.374T>G (p.Ile125Ser) c.351T>G n.479T>G c.338T>G (p.Ile113Ser) c.-456T>G (n.-456T>G) c.-8T>G (n.-8T>G) c.479T>G (p.Ile160Ser) | |
| 8 | g.132180233A>G | CA372290814 | KCNQ3 | c.701T>C (p.Ile234Thr) c.341T>C (p.Ile114Thr) c.374T>C (p.Ile125Thr) c.351T>C n.479T>C c.338T>C (p.Ile113Thr) c.-456T>C (n.-456T>C) c.-8T>C (n.-8T>C) c.479T>C (p.Ile160Thr) | |
| 8 | g.132180233A>T | CA372290815 | KCNQ3 | c.701T>A (p.Ile234Asn) c.341T>A (p.Ile114Asn) c.374T>A (p.Ile125Asn) c.351T>A n.479T>A c.338T>A (p.Ile113Asn) c.-456T>A (n.-456T>A) c.-8T>A (n.-8T>A) c.479T>A (p.Ile160Asn) | gnomAD v4 |
| 8 | g.132180234T>A | CA372290818 | KCNQ3 | c.700A>T (p.Ile234Phe) c.340A>T (p.Ile114Phe) c.373A>T (p.Ile125Phe) c.350A>T n.478A>T c.337A>T (p.Ile113Phe) c.-457A>T (n.-457A>T) c.-9A>T (n.-9A>T) c.478A>T (p.Ile160Phe) | |
| 8 | g.132180234T>C | CA372290816 | KCNQ3 | c.700A>G (p.Ile234Val) c.340A>G (p.Ile114Val) c.373A>G (p.Ile125Val) c.350A>G n.478A>G c.337A>G (p.Ile113Val) c.-457A>G (n.-457A>G) c.-9A>G (n.-9A>G) c.478A>G (p.Ile160Val) | gnomAD v4 |
| 8 | g.132180234T>G | CA372290817 | KCNQ3 | c.700A>C (p.Ile234Leu) c.340A>C (p.Ile114Leu) c.373A>C (p.Ile125Leu) c.350A>C n.478A>C c.337A>C (p.Ile113Leu) c.-457A>C (n.-457A>C) c.-9A>C (n.-9A>C) c.478A>C (p.Ile160Leu) | |
| 8 | g.132180235C>A | CA372290819 | KCNQ3 | c.699G>T (p.Gln233His) c.339G>T (p.Gln113His) c.372G>T (p.Gln124His) c.349G>T n.477G>T c.336G>T (p.Gln112His) c.-458G>T (n.-458G>T) c.-10G>T (n.-10G>T) c.477G>T (p.Gln159His) | |
| 8 | g.132180235C>G | CA372290820 | KCNQ3 | c.699G>C (p.Gln233His) c.339G>C (p.Gln113His) c.372G>C (p.Gln124His) c.349G>C n.477G>C c.336G>C (p.Gln112His) c.-458G>C (n.-458G>C) c.-10G>C (n.-10G>C) c.477G>C (p.Gln159His) | |
| 8 | g.132180235C>T | CA463070512 | KCNQ3 | c.699G>A (p.Gln233=) c.339G>A (p.Gln113=) c.372G>A (p.Gln124=) c.349G>A n.477G>A c.336G>A (p.Gln112=) c.-458G>A (n.-458G>A) c.-10G>A (n.-10G>A) c.477G>A (p.Gln159=) | |
| 8 | g.132180236T>A | CA372290821 | KCNQ3 | c.698A>T (p.Gln233Leu) c.338A>T (p.Gln113Leu) c.371A>T (p.Gln124Leu) c.348A>T n.476A>T c.335A>T (p.Gln112Leu) c.-459A>T (n.-459A>T) c.-11A>T (n.-11A>T) c.476A>T (p.Gln159Leu) | |
| 8 | g.132180236T>C | CA372290822 | KCNQ3 | c.698A>G (p.Gln233Arg) c.338A>G (p.Gln113Arg) c.371A>G (p.Gln124Arg) c.348A>G n.476A>G c.335A>G (p.Gln112Arg) c.-459A>G (n.-459A>G) c.-11A>G (n.-11A>G) c.476A>G (p.Gln159Arg) | |
| 8 | g.132180236T>G | CA372290823 | KCNQ3 | c.698A>C (p.Gln233Pro) c.338A>C (p.Gln113Pro) c.371A>C (p.Gln124Pro) c.348A>C n.476A>C c.335A>C (p.Gln112Pro) c.-459A>C (n.-459A>C) c.-11A>C (n.-11A>C) c.476A>C (p.Gln159Pro) | |
| 8 | g.132180237G>A | CA372290824 | KCNQ3 | c.697C>T (p.Gln233Ter) c.337C>T (p.Gln113Ter) c.370C>T (p.Gln124Ter) c.347C>T n.475C>T c.334C>T (p.Gln112Ter) c.-460C>T (n.-460C>T) c.-12C>T (n.-12C>T) c.475C>T (p.Gln159Ter) | |
| 8 | g.132180237G>C | CA372290826 | KCNQ3 | c.697C>G (p.Gln233Glu) c.337C>G (p.Gln113Glu) c.370C>G (p.Gln124Glu) c.347C>G n.475C>G c.334C>G (p.Gln112Glu) c.-460C>G (n.-460C>G) c.-12C>G (n.-12C>G) c.475C>G (p.Gln159Glu) | |
| 8 | g.132180237G>T | CA372290825 | KCNQ3 | c.697C>A (p.Gln233Lys) c.337C>A (p.Gln113Lys) c.370C>A (p.Gln124Lys) c.347C>A n.475C>A c.334C>A (p.Gln112Lys) c.-460C>A (n.-460C>A) c.-12C>A (n.-12C>A) c.475C>A (p.Gln159Lys) | ClinVar gnomAD v4 |
| 8 | g.132180238C>A | CA463070513 | KCNQ3 | c.696G>T (p.Leu232=) c.336G>T (p.Leu112=) c.369G>T (p.Leu123=) c.346G>T n.474G>T c.333G>T (p.Leu111=) c.-461G>T (n.-461G>T) c.-13G>T (n.-13G>T) c.474G>T (p.Leu158=) | gnomAD v4 |
| 8 | g.132180238C>G | CA463070514 | KCNQ3 | c.696G>C (p.Leu232=) c.336G>C (p.Leu112=) c.369G>C (p.Leu123=) c.346G>C n.474G>C c.333G>C (p.Leu111=) c.-461G>C (n.-461G>C) c.-13G>C (n.-13G>C) c.474G>C (p.Leu158=) | |
| 8 | g.132180238C>T | CA463070515 | KCNQ3 | c.696G>A (p.Leu232=) c.336G>A (p.Leu112=) c.369G>A (p.Leu123=) c.346G>A n.474G>A c.333G>A (p.Leu111=) c.-461G>A (n.-461G>A) c.-13G>A (n.-13G>A) c.474G>A (p.Leu158=) | |
| 8 | g.132180239A= | CA1820666597 | KCNQ3 | c.695T= (p.Leu232=) c.335T= (p.Leu112=) c.368T= (p.Leu123=) c.345T= n.473T= c.332T= (p.Leu111=) c.-462T= (n.-462T=) c.-14T= (n.-14T=) c.473T= (p.Leu158=) | |
| 8 | g.132180239A>C | CA372290827 | KCNQ3 | c.695T>G (p.Leu232Arg) c.335T>G (p.Leu112Arg) c.368T>G (p.Leu123Arg) c.345T>G n.473T>G c.332T>G (p.Leu111Arg) c.-462T>G (n.-462T>G) c.-14T>G (n.-14T>G) c.473T>G (p.Leu158Arg) | |
| 8 | g.132180239A>G | CA372290828 | KCNQ3 | c.695T>C (p.Leu232Pro) c.335T>C (p.Leu112Pro) c.368T>C (p.Leu123Pro) c.345T>C n.473T>C c.332T>C (p.Leu111Pro) c.-462T>C (n.-462T>C) c.-14T>C (n.-14T>C) c.473T>C (p.Leu158Pro) | dbSNP |
| 8 | g.132180239A>T | CA372290829 | KCNQ3 | c.695T>A (p.Leu232Gln) c.335T>A (p.Leu112Gln) c.368T>A (p.Leu123Gln) c.345T>A n.473T>A c.332T>A (p.Leu111Gln) c.-462T>A (n.-462T>A) c.-14T>A (n.-14T>A) c.473T>A (p.Leu158Gln) | |
| 8 | g.132180240G>A | CA4880863 | KCNQ3 | c.694C>T (p.Leu232=) c.334C>T (p.Leu112=) c.367C>T (p.Leu123=) c.344C>T n.472C>T c.331C>T (p.Leu111=) c.-463C>T (n.-463C>T) c.-15C>T (n.-15C>T) c.472C>T (p.Leu158=) | dbSNP ExAC gnomAD v4 |
| 8 | g.132180240G>C | CA372290830 | KCNQ3 | c.694C>G (p.Leu232Val) c.334C>G (p.Leu112Val) c.367C>G (p.Leu123Val) c.344C>G n.472C>G c.331C>G (p.Leu111Val) c.-463C>G (n.-463C>G) c.-15C>G (n.-15C>G) c.472C>G (p.Leu158Val) | |
| 8 | g.132180240G= | CA1820666598 | KCNQ3 | c.694C= (p.Leu232=) c.334C= (p.Leu112=) c.367C= (p.Leu123=) c.344C= n.472C= c.331C= (p.Leu111=) c.-463C= (n.-463C=) c.-15C= (n.-15C=) c.472C= (p.Leu158=) | |
| 8 | g.132180240G>T | CA372290831 | KCNQ3 | c.694C>A (p.Leu232Met) c.334C>A (p.Leu112Met) c.367C>A (p.Leu123Met) c.344C>A n.472C>A c.331C>A (p.Leu111Met) c.-463C>A (n.-463C>A) c.-15C>A (n.-15C>A) c.472C>A (p.Leu158Met) | |
| 8 | g.132180241G>A | CA463070516 | KCNQ3 | c.693C>T (p.Phe231=) c.333C>T (p.Phe111=) c.366C>T (p.Phe122=) c.343C>T n.471C>T c.330C>T (p.Phe110=) c.-464C>T (n.-464C>T) c.-16C>T (n.-16C>T) c.471C>T (p.Phe157=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132180241G>C | CA372290832 | KCNQ3 | c.693C>G (p.Phe231Leu) c.333C>G (p.Phe111Leu) c.366C>G (p.Phe122Leu) c.343C>G n.471C>G c.330C>G (p.Phe110Leu) c.-464C>G (n.-464C>G) c.-16C>G (n.-16C>G) c.471C>G (p.Phe157Leu) | |
| 8 | g.132180241G= | CA1820666599 | KCNQ3 | c.693C= (p.Phe231=) c.333C= (p.Phe111=) c.366C= (p.Phe122=) c.343C= n.471C= c.330C= (p.Phe110=) c.-464C= (n.-464C=) c.-16C= (n.-16C=) c.471C= (p.Phe157=) | |
| 8 | g.132180241G>T | CA372290833 | KCNQ3 | c.693C>A (p.Phe231Leu) c.333C>A (p.Phe111Leu) c.366C>A (p.Phe122Leu) c.343C>A n.471C>A c.330C>A (p.Phe110Leu) c.-464C>A (n.-464C>A) c.-16C>A (n.-16C>A) c.471C>A (p.Phe157Leu) | |
| 8 | g.132180242A>C | CA372290834 | KCNQ3 | c.692T>G (p.Phe231Cys) c.332T>G (p.Phe111Cys) c.365T>G (p.Phe122Cys) c.342T>G n.470T>G c.329T>G (p.Phe110Cys) c.-465T>G (n.-465T>G) c.-17T>G (n.-17T>G) c.470T>G (p.Phe157Cys) | |
| 8 | g.132180242A>G | CA372290835 | KCNQ3 | c.692T>C (p.Phe231Ser) c.332T>C (p.Phe111Ser) c.365T>C (p.Phe122Ser) c.342T>C n.470T>C c.329T>C (p.Phe110Ser) c.-465T>C (n.-465T>C) c.-17T>C (n.-17T>C) c.470T>C (p.Phe157Ser) | |
| 8 | g.132180242A>T | CA372290836 | KCNQ3 | c.692T>A (p.Phe231Tyr) c.332T>A (p.Phe111Tyr) c.365T>A (p.Phe122Tyr) c.342T>A n.470T>A c.329T>A (p.Phe110Tyr) c.-465T>A (n.-465T>A) c.-17T>A (n.-17T>A) c.470T>A (p.Phe157Tyr) | |
| 8 | g.132180243A>C | CA372290837 | KCNQ3 | c.691T>G (p.Phe231Val) c.331T>G (p.Phe111Val) c.364T>G (p.Phe122Val) c.341T>G n.469T>G c.328T>G (p.Phe110Val) c.-466T>G (n.-466T>G) c.-18T>G (n.-18T>G) c.469T>G (p.Phe157Val) | |
| 8 | g.132180243A>G | CA372290838 | KCNQ3 | c.691T>C (p.Phe231Leu) c.331T>C (p.Phe111Leu) c.364T>C (p.Phe122Leu) c.341T>C n.469T>C c.328T>C (p.Phe110Leu) c.-466T>C (n.-466T>C) c.-18T>C (n.-18T>C) c.469T>C (p.Phe157Leu) | |
| 8 | g.132180243A>T | CA372290839 | KCNQ3 | c.691T>A (p.Phe231Ile) c.331T>A (p.Phe111Ile) c.364T>A (p.Phe122Ile) c.341T>A n.469T>A c.328T>A (p.Phe110Ile) c.-466T>A (n.-466T>A) c.-18T>A (n.-18T>A) c.469T>A (p.Phe157Ile) | |
| 8 | g.132180244G>A | CA4880864 | KCNQ3 | c.690C>T (p.Arg230=) c.330C>T (p.Arg110=) c.363C>T (p.Arg121=) c.340C>T n.468C>T c.327C>T (p.Arg109=) c.-467C>T (n.-467C>T) c.-19C>T (n.-19C>T) c.468C>T (p.Arg156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.132180244G>C | CA463070518 | KCNQ3 | c.690C>G (p.Arg230=) c.330C>G (p.Arg110=) c.363C>G (p.Arg121=) c.340C>G n.468C>G c.327C>G (p.Arg109=) c.-467C>G (n.-467C>G) c.-19C>G (n.-19C>G) c.468C>G (p.Arg156=) | |
| 8 | g.132180244G= | CA1820666600 | KCNQ3 | c.690C= (p.Arg230=) c.330C= (p.Arg110=) c.363C= (p.Arg121=) c.340C= n.468C= c.327C= (p.Arg109=) c.-467C= (n.-467C=) c.-19C= (n.-19C=) c.468C= (p.Arg156=) | |
| 8 | g.132180244G>T | CA463070517 | KCNQ3 | c.690C>A (p.Arg230=) c.330C>A (p.Arg110=) c.363C>A (p.Arg121=) c.340C>A n.468C>A c.327C>A (p.Arg109=) c.-467C>A (n.-467C>A) c.-19C>A (n.-19C>A) c.468C>A (p.Arg156=) | gnomAD v4 |
| 8 | g.132180245C>A | CA372290840 | KCNQ3 | c.689G>T (p.Arg230Leu) c.329G>T (p.Arg110Leu) c.362G>T (p.Arg121Leu) c.339G>T n.467G>T c.326G>T (p.Arg109Leu) c.-468G>T (n.-468G>T) c.-20G>T (n.-20G>T) c.467G>T (p.Arg156Leu) | dbSNP gnomAD v2 |
| 8 | g.132180245C= | CA1820666601 | KCNQ3 | c.689G= (p.Arg230=) c.329G= (p.Arg110=) c.362G= (p.Arg121=) c.339G= n.467G= c.326G= (p.Arg109=) c.-468G= (n.-468G=) c.-20G= (n.-20G=) c.467G= (p.Arg156=) | |
| 8 | g.132180245C>G | CA372290841 | KCNQ3 | c.689G>C (p.Arg230Pro) c.329G>C (p.Arg110Pro) c.362G>C (p.Arg121Pro) c.339G>C n.467G>C c.326G>C (p.Arg109Pro) c.-468G>C (n.-468G>C) c.-20G>C (n.-20G>C) c.467G>C (p.Arg156Pro) | |
| 8 | g.132180245C>T | CA4880865 | KCNQ3 | c.689G>A (p.Arg230His) c.329G>A (p.Arg110His) c.362G>A (p.Arg121His) c.339G>A n.467G>A c.326G>A (p.Arg109His) c.-468G>A (n.-468G>A) c.-20G>A (n.-20G>A) c.467G>A (p.Arg156His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.132180246G>A | CA315593 | KCNQ3 | c.688C>T (p.Arg230Cys) c.328C>T (p.Arg110Cys) c.361C>T (p.Arg121Cys) c.338C>T n.466C>T c.325C>T (p.Arg109Cys) c.-469C>T (n.-469C>T) c.-21C>T (n.-21C>T) c.466C>T (p.Arg156Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.132180246G>C | CA372290842 | KCNQ3 | c.688C>G (p.Arg230Gly) c.328C>G (p.Arg110Gly) c.361C>G (p.Arg121Gly) c.338C>G n.466C>G c.325C>G (p.Arg109Gly) c.-469C>G (n.-469C>G) c.-21C>G (n.-21C>G) c.466C>G (p.Arg156Gly) | |
| 8 | g.132180246G= | CA1820666602 | KCNQ3 | c.688C= (p.Arg230=) c.328C= (p.Arg110=) c.361C= (p.Arg121=) c.338C= n.466C= c.325C= (p.Arg109=) c.-469C= (n.-469C=) c.-21C= (n.-21C=) c.466C= (p.Arg156=) | |
| 8 | g.132180246G>T | CA372290843 | KCNQ3 | c.688C>A (p.Arg230Ser) c.328C>A (p.Arg110Ser) c.361C>A (p.Arg121Ser) c.338C>A n.466C>A c.325C>A (p.Arg109Ser) c.-469C>A (n.-469C>A) c.-21C>A (n.-21C>A) c.466C>A (p.Arg156Ser) | ClinVar dbSNP |