| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572863G>A | CA472038133 | KCNQ1 | c.537G>A (p.Leu179=) c.478-10572G>A (n.478-10572G>A) c.798G>A (p.Leu266=) c.417G>A (p.Leu139=) c.124-10572G>A (n.124-10572G>A) | |
| 11 | g.2572863G>C | CA472038134 | KCNQ1 | c.537G>C (p.Leu179=) c.478-10572G>C (n.478-10572G>C) c.798G>C (p.Leu266=) c.417G>C (p.Leu139=) c.124-10572G>C (n.124-10572G>C) | |
| 11 | g.2572863G>T | CA472038135 | KCNQ1 | c.537G>T (p.Leu179=) c.478-10572G>T (n.478-10572G>T) c.798G>T (p.Leu266=) c.417G>T (p.Leu139=) c.124-10572G>T (n.124-10572G>T) | |
| 11 | g.2572864T>A | CA379131308 | KCNQ1 | c.538T>A (p.Tyr180Asn) c.478-10571T>A (n.478-10571T>A) c.799T>A (p.Tyr267Asn) c.418T>A (p.Tyr140Asn) c.124-10571T>A (n.124-10571T>A) | |
| 11 | g.2572864T>C | CA379131309 | KCNQ1 | c.538T>C (p.Tyr180His) c.478-10571T>C (n.478-10571T>C) c.799T>C (p.Tyr267His) c.418T>C (p.Tyr140His) c.124-10571T>C (n.124-10571T>C) | |
| 11 | g.2572864T>G | CA379131311 | KCNQ1 | c.538T>G (p.Tyr180Asp) c.478-10571T>G (n.478-10571T>G) c.799T>G (p.Tyr267Asp) c.418T>G (p.Tyr140Asp) c.124-10571T>G (n.124-10571T>G) | |
| 11 | g.2572865A= | CA1948243175 | KCNQ1 | c.539A= (p.Tyr180=) c.478-10570A= (n.478-10570A=) c.800A= (p.Tyr267=) c.419A= (p.Tyr140=) c.124-10570A= (n.124-10570A=) | |
| 11 | g.2572865A>C | CA379131313 | KCNQ1 | c.539A>C (p.Tyr180Ser) c.478-10570A>C (n.478-10570A>C) c.800A>C (p.Tyr267Ser) c.419A>C (p.Tyr140Ser) c.124-10570A>C (n.124-10570A>C) | |
| 11 | g.2572865A>G | CA379131315 | KCNQ1 | c.539A>G (p.Tyr180Cys) c.478-10570A>G (n.478-10570A>G) c.800A>G (p.Tyr267Cys) c.419A>G (p.Tyr140Cys) c.124-10570A>G (n.124-10570A>G) | dbSNP gnomAD v4 |
| 11 | g.2572865A>T | CA10587722 | KCNQ1 | c.539A>T (p.Tyr180Phe) c.478-10570A>T (n.478-10570A>T) c.800A>T (p.Tyr267Phe) c.419A>T (p.Tyr140Phe) c.124-10570A>T (n.124-10570A>T) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572866C>A | CA379131318 | KCNQ1 | c.540C>A (p.Tyr180Ter) c.478-10569C>A (n.478-10569C>A) c.801C>A (p.Tyr267Ter) c.420C>A (p.Tyr140Ter) c.124-10569C>A (n.124-10569C>A) | |
| 11 | g.2572866C= | CA1948243176 | KCNQ1 | c.540C= (p.Tyr180=) c.478-10569C= (n.478-10569C=) c.801C= (p.Tyr267=) c.420C= (p.Tyr140=) c.124-10569C= (n.124-10569C=) | |
| 11 | g.2572866C>G | CA379131319 | KCNQ1 | c.540C>G (p.Tyr180Ter) c.478-10569C>G (n.478-10569C>G) c.801C>G (p.Tyr267Ter) c.420C>G (p.Tyr140Ter) c.124-10569C>G (n.124-10569C>G) | |
| 11 | g.2572866C>T | CA472038138 | KCNQ1 | c.540C>T (p.Tyr180=) c.478-10569C>T (n.478-10569C>T) c.801C>T (p.Tyr267=) c.420C>T (p.Tyr140=) c.124-10569C>T (n.124-10569C>T) | dbSNP gnomAD v4 |
| 11 | g.2572867A= | CA1948243177 | KCNQ1 | c.541A= (p.Ile181=) c.478-10568A= (n.478-10568A=) c.802A= (p.Ile268=) c.421A= (p.Ile141=) c.124-10568A= (n.124-10568A=) | |
| 11 | g.2572867A>C | CA379131324 | KCNQ1 | c.541A>C (p.Ile181Leu) c.478-10568A>C (n.478-10568A>C) c.802A>C (p.Ile268Leu) c.421A>C (p.Ile141Leu) c.124-10568A>C (n.124-10568A>C) | |
| 11 | g.2572867A>G | CA040733 | KCNQ1 | c.541A>G (p.Ile181Val) c.478-10568A>G (n.478-10568A>G) c.802A>G (p.Ile268Val) c.421A>G (p.Ile141Val) c.124-10568A>G (n.124-10568A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572867A>T | CA379131321 | KCNQ1 | c.541A>T (p.Ile181Phe) c.478-10568A>T (n.478-10568A>T) c.802A>T (p.Ile268Phe) c.421A>T (p.Ile141Phe) c.124-10568A>T (n.124-10568A>T) | |
| 11 | g.2572868del | CA2695213154 | KCNQ1 | c.542del (p.Ile181ThrfsTer21) c.478-10567del (n.478-10567del) c.803del (p.Ile268ThrfsTer21) c.422del (p.Ile141ThrfsTer21) c.124-10567del (n.124-10567del) c.542del (p.Ile181ThrfsTer?) | |
| 11 | g.2572868T>A | CA379131326 | KCNQ1 | c.542T>A (p.Ile181Asn) c.478-10567T>A (n.478-10567T>A) c.803T>A (p.Ile268Asn) c.422T>A (p.Ile141Asn) c.124-10567T>A (n.124-10567T>A) | |
| 11 | g.2572868T>C | CA379131328 | KCNQ1 | c.542T>C (p.Ile181Thr) c.478-10567T>C (n.478-10567T>C) c.803T>C (p.Ile268Thr) c.422T>C (p.Ile141Thr) c.124-10567T>C (n.124-10567T>C) | |
| 11 | g.2572868T>G | CA008270 | KCNQ1 | c.542T>G (p.Ile181Ser) c.478-10567T>G (n.478-10567T>G) c.803T>G (p.Ile268Ser) c.422T>G (p.Ile141Ser) c.124-10567T>G (n.124-10567T>G) | ClinVar dbSNP |
| 11 | g.2572868T= | CA1948243178 | KCNQ1 | c.542T= (p.Ile181=) c.478-10567T= (n.478-10567T=) c.803T= (p.Ile268=) c.422T= (p.Ile141=) c.124-10567T= (n.124-10567T=) | |
| 11 | g.2572870_2572884del | CA2695213155 | KCNQ1 | c.544_558del (p.Gly182_Leu186del) c.478-10565_478-10551del (n.478-10565_478-10551del) c.805_819del (p.Gly269_Leu273del) c.424_438del (p.Gly142_Leu146del) c.124-10565_124-10551del (n.124-10565_124-10551del) | |
| 11 | g.2572869C>A | CA472038139 | KCNQ1 | c.543C>A (p.Ile181=) c.478-10566C>A (n.478-10566C>A) c.804C>A (p.Ile268=) c.423C>A (p.Ile141=) c.124-10566C>A (n.124-10566C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2572869C= | CA1948243179 | KCNQ1 | c.543C= (p.Ile181=) c.478-10566C= (n.478-10566C=) c.804C= (p.Ile268=) c.423C= (p.Ile141=) c.124-10566C= (n.124-10566C=) | |
| 11 | g.2572869C>G | CA379131331 | KCNQ1 | c.543C>G (p.Ile181Met) c.478-10566C>G (n.478-10566C>G) c.804C>G (p.Ile268Met) c.423C>G (p.Ile141Met) c.124-10566C>G (n.124-10566C>G) | |
| 11 | g.2572869C>T | CA040745 | KCNQ1 | c.543C>T (p.Ile181=) c.478-10566C>T (n.478-10566C>T) c.804C>T (p.Ile268=) c.423C>T (p.Ile141=) c.124-10566C>T (n.124-10566C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572870G>A | CA008278 | KCNQ1 | c.544G>A (p.Gly182Ser) c.478-10565G>A (n.478-10565G>A) c.805G>A (p.Gly269Ser) c.424G>A (p.Gly142Ser) c.124-10565G>A (n.124-10565G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572870G>C | CA008284 | KCNQ1 | c.544G>C (p.Gly182Arg) c.478-10565G>C (n.478-10565G>C) c.805G>C (p.Gly269Arg) c.424G>C (p.Gly142Arg) c.124-10565G>C (n.124-10565G>C) | ClinVar dbSNP |
| 11 | g.2572870G= | CA1948243180 | KCNQ1 | c.544G= (p.Gly182=) c.478-10565G= (n.478-10565G=) c.805G= (p.Gly269=) c.424G= (p.Gly142=) c.124-10565G= (n.124-10565G=) | |
| 11 | g.2572870G>T | CA379131337 | KCNQ1 | c.544G>T (p.Gly182Cys) c.478-10565G>T (n.478-10565G>T) c.805G>T (p.Gly269Cys) c.424G>T (p.Gly142Cys) c.124-10565G>T (n.124-10565G>T) | |
| 11 | g.2572871G>A | CA008292 | KCNQ1 | c.545G>A (p.Gly182Asp) c.478-10564G>A (n.478-10564G>A) c.806G>A (p.Gly269Asp) c.425G>A (p.Gly142Asp) c.124-10564G>A (n.124-10564G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2572871G>C | CA379131341 | KCNQ1 | c.545G>C (p.Gly182Ala) c.478-10564G>C (n.478-10564G>C) c.806G>C (p.Gly269Ala) c.425G>C (p.Gly142Ala) c.124-10564G>C (n.124-10564G>C) | |
| 11 | g.2572871G= | CA1948243181 | KCNQ1 | c.545G= (p.Gly182=) c.478-10564G= (n.478-10564G=) c.806G= (p.Gly269=) c.425G= (p.Gly142=) c.124-10564G= (n.124-10564G=) | |
| 11 | g.2572871G>T | CA008303 | KCNQ1 | c.545G>T (p.Gly182Val) c.478-10564G>T (n.478-10564G>T) c.806G>T (p.Gly269Val) c.425G>T (p.Gly142Val) c.124-10564G>T (n.124-10564G>T) | ClinVar dbSNP |
| 11 | g.2572872C>A | CA472038142 | KCNQ1 | c.546C>A (p.Gly182=) c.478-10563C>A (n.478-10563C>A) c.807C>A (p.Gly269=) c.426C>A (p.Gly142=) c.124-10563C>A (n.124-10563C>A) | |
| 11 | g.2572872C= | CA1948243182 | KCNQ1 | c.546C= (p.Gly182=) c.478-10563C= (n.478-10563C=) c.807C= (p.Gly269=) c.426C= (p.Gly142=) c.124-10563C= (n.124-10563C=) | |
| 11 | g.2572872C>G | CA472038140 | KCNQ1 | c.546C>G (p.Gly182=) c.478-10563C>G (n.478-10563C>G) c.807C>G (p.Gly269=) c.426C>G (p.Gly142=) c.124-10563C>G (n.124-10563C>G) | |
| 11 | g.2572872C>T | CA472038141 | KCNQ1 | c.546C>T (p.Gly182=) c.478-10563C>T (n.478-10563C>T) c.807C>T (p.Gly269=) c.426C>T (p.Gly142=) c.124-10563C>T (n.124-10563C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2572874_2572877del | CA2695213156 | KCNQ1 | c.548_551del (p.Phe183TrpfsTer18) c.478-10561_478-10558del (n.478-10561_478-10558del) c.809_812del (p.Phe270TrpfsTer18) c.428_431del (p.Phe143TrpfsTer18) c.124-10561_124-10558del (n.124-10561_124-10558del) c.548_551del (p.Phe183TrpfsTer?) | |
| 11 | g.2572873T>A | CA379131345 | KCNQ1 | c.547T>A (p.Phe183Ile) c.478-10562T>A (n.478-10562T>A) c.808T>A (p.Phe270Ile) c.427T>A (p.Phe143Ile) c.124-10562T>A (n.124-10562T>A) | |
| 11 | g.2572873T>C | CA379131347 | KCNQ1 | c.547T>C (p.Phe183Leu) c.478-10562T>C (n.478-10562T>C) c.808T>C (p.Phe270Leu) c.427T>C (p.Phe143Leu) c.124-10562T>C (n.124-10562T>C) | |
| 11 | g.2572873T>G | CA379131349 | KCNQ1 | c.547T>G (p.Phe183Val) c.478-10562T>G (n.478-10562T>G) c.808T>G (p.Phe270Val) c.427T>G (p.Phe143Val) c.124-10562T>G (n.124-10562T>G) | |
| 11 | g.2572874T>A | CA379131354 | KCNQ1 | c.548T>A (p.Phe183Tyr) c.478-10561T>A (n.478-10561T>A) c.809T>A (p.Phe270Tyr) c.428T>A (p.Phe143Tyr) c.124-10561T>A (n.124-10561T>A) | |
| 11 | g.2572874T>C | CA040791 | KCNQ1 | c.548T>C (p.Phe183Ser) c.478-10561T>C (n.478-10561T>C) c.809T>C (p.Phe270Ser) c.428T>C (p.Phe143Ser) c.124-10561T>C (n.124-10561T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2572874T>G | CA379131351 | KCNQ1 | c.548T>G (p.Phe183Cys) c.478-10561T>G (n.478-10561T>G) c.809T>G (p.Phe270Cys) c.428T>G (p.Phe143Cys) c.124-10561T>G (n.124-10561T>G) | |
| 11 | g.2572874T= | CA1948243183 | KCNQ1 | c.548T= (p.Phe183=) c.478-10561T= (n.478-10561T=) c.809T= (p.Phe270=) c.428T= (p.Phe143=) c.124-10561T= (n.124-10561T=) | |
| 11 | g.2572874_2572880delinsTCCTGGG | CA1948243184 | KCNQ1 | c.548_554delinsTCCTGGG (p.Phe183=) c.478-10561_478-10555delinsTCCTGGG (n.478-10561_478-10555delinsTCCTGGG) c.809_815delinsTCCTGGG (p.Phe270=) c.428_434delinsTCCTGGG (p.Phe143=) c.124-10561_124-10555delinsTCCTGGG (n.124-10561_124-10555delinsTCCTGGG) | |
| 11 | g.2572875C>A | CA379131356 | KCNQ1 | c.549C>A (p.Phe183Leu) c.478-10560C>A (n.478-10560C>A) c.810C>A (p.Phe270Leu) c.429C>A (p.Phe143Leu) c.124-10560C>A (n.124-10560C>A) |