Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2587619_2587621dup | CA658761338 | KCNQ1 | c.821_823dup (p.Lys274_Ile275insLys) c.638_640dup (p.Lys213_Ile214insLys) c.1178_1180dup (p.Lys393_Ile394insLys) c.797_799dup (p.Lys266_Ile267insLys) c.284_286dup (p.Lys95_Ile96insLys) | |
11 | g.2587619A= | CA1948233268 | KCNQ1 | c.821A= (p.Lys274=) c.638A= (p.Lys213=) c.1178A= (p.Lys393=) c.797A= (p.Lys266=) c.284A= (p.Lys95=) | |
11 | g.2587619A>C | CA379134738 | KCNQ1 | c.821A>C (p.Lys274Thr) c.638A>C (p.Lys213Thr) c.1178A>C (p.Lys393Thr) c.797A>C (p.Lys266Thr) c.284A>C (p.Lys95Thr) | |
11 | g.2587619A>G | CA379134737 | KCNQ1 | c.821A>G (p.Lys274Arg) c.638A>G (p.Lys213Arg) c.1178A>G (p.Lys393Arg) c.797A>G (p.Lys266Arg) c.284A>G (p.Lys95Arg) | gnomAD v4 |
11 | g.2587619A>T | CA005470 | KCNQ1 | c.821A>T (p.Lys274Met) c.638A>T (p.Lys213Met) c.1178A>T (p.Lys393Met) c.797A>T (p.Lys266Met) c.284A>T (p.Lys95Met) | ClinVar dbSNP gnomAD v4 |
11 | g.2587620G>A | CA472039119 | KCNQ1 | c.822G>A (p.Lys274=) c.639G>A (p.Lys213=) c.1179G>A (p.Lys393=) c.798G>A (p.Lys266=) c.285G>A (p.Lys95=) | |
11 | g.2587620G>C | CA379134739 | KCNQ1 | c.822G>C (p.Lys274Asn) c.639G>C (p.Lys213Asn) c.1179G>C (p.Lys393Asn) c.798G>C (p.Lys266Asn) c.285G>C (p.Lys95Asn) | |
11 | g.2587620G= | CA1948233280 | KCNQ1 | c.822G= (p.Lys274=) c.639G= (p.Lys213=) c.1179G= (p.Lys393=) c.798G= (p.Lys266=) c.285G= (p.Lys95=) | |
11 | g.2587620G>T | CA005477 | KCNQ1 | c.822G>T (p.Lys274Asn) c.639G>T (p.Lys213Asn) c.1179G>T (p.Lys393Asn) c.798G>T (p.Lys266Asn) c.285G>T (p.Lys95Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587621A= | CA1948233286 | KCNQ1 | c.823A= (p.Ile275=) c.640A= (p.Ile214=) c.1180A= (p.Ile394=) c.799A= (p.Ile267=) c.286A= (p.Ile96=) | |
11 | g.2587621A>C | CA379134740 | KCNQ1 | c.823A>C (p.Ile275Leu) c.640A>C (p.Ile214Leu) c.1180A>C (p.Ile394Leu) c.799A>C (p.Ile267Leu) c.286A>C (p.Ile96Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587621A>G | CA379134741 | KCNQ1 | c.823A>G (p.Ile275Val) c.640A>G (p.Ile214Val) c.1180A>G (p.Ile394Val) c.799A>G (p.Ile267Val) c.286A>G (p.Ile96Val) | |
11 | g.2587621A>T | CA379134742 | KCNQ1 | c.823A>T (p.Ile275Phe) c.640A>T (p.Ile214Phe) c.1180A>T (p.Ile394Phe) c.799A>T (p.Ile267Phe) c.286A>T (p.Ile96Phe) | |
11 | g.2587622T>A | CA379134745 | KCNQ1 | c.824T>A (p.Ile275Asn) c.641T>A (p.Ile214Asn) c.1181T>A (p.Ile394Asn) c.800T>A (p.Ile267Asn) c.287T>A (p.Ile96Asn) | |
11 | g.2587622T>C | CA379134743 | KCNQ1 | c.824T>C (p.Ile275Thr) c.641T>C (p.Ile214Thr) c.1181T>C (p.Ile394Thr) c.800T>C (p.Ile267Thr) c.287T>C (p.Ile96Thr) | ClinVar dbSNP |
11 | g.2587622T>G | CA379134744 | KCNQ1 | c.824T>G (p.Ile275Ser) c.641T>G (p.Ile214Ser) c.1181T>G (p.Ile394Ser) c.800T>G (p.Ile267Ser) c.287T>G (p.Ile96Ser) | |
11 | g.2587622T= | CA1948233291 | KCNQ1 | c.824T= (p.Ile275=) c.641T= (p.Ile214=) c.1181T= (p.Ile394=) c.800T= (p.Ile267=) c.287T= (p.Ile96=) | |
11 | g.2587623del | CA2499220873 | KCNQ1 | c.825del (p.Tyr276ThrfsTer24) c.642del (p.Tyr215ThrfsTer24) c.1182del (p.Tyr395ThrfsTer24) c.801del (p.Tyr268ThrfsTer24) c.288del (p.Tyr97ThrfsTer24) | ClinVar dbSNP |
11 | g.2587623C>A | CA472039124 | KCNQ1 | c.825C>A (p.Ile275=) c.642C>A (p.Ile214=) c.1182C>A (p.Ile394=) c.801C>A (p.Ile267=) c.288C>A (p.Ile96=) | |
11 | g.2587623C>G | CA379134746 | KCNQ1 | c.825C>G (p.Ile275Met) c.642C>G (p.Ile214Met) c.1182C>G (p.Ile394Met) c.801C>G (p.Ile267Met) c.288C>G (p.Ile96Met) | |
11 | g.2587623C>T | CA472039126 | KCNQ1 | c.825C>T (p.Ile275=) c.642C>T (p.Ile214=) c.1182C>T (p.Ile394=) c.801C>T (p.Ile267=) c.288C>T (p.Ile96=) | |
11 | g.2587624T>A | CA379134747 | KCNQ1 | c.826T>A (p.Tyr276Asn) c.643T>A (p.Tyr215Asn) c.1183T>A (p.Tyr395Asn) c.802T>A (p.Tyr268Asn) c.289T>A (p.Tyr97Asn) | |
11 | g.2587624T>C | CA379134748 | KCNQ1 | c.826T>C (p.Tyr276His) c.643T>C (p.Tyr215His) c.1183T>C (p.Tyr395His) c.802T>C (p.Tyr268His) c.289T>C (p.Tyr97His) | |
11 | g.2587624T>G | CA379134749 | KCNQ1 | c.826T>G (p.Tyr276Asp) c.643T>G (p.Tyr215Asp) c.1183T>G (p.Tyr395Asp) c.802T>G (p.Tyr268Asp) c.289T>G (p.Tyr97Asp) | |
11 | g.2587625A= | CA1948233296 | KCNQ1 | c.827A= (p.Tyr276=) c.644A= (p.Tyr215=) c.1184A= (p.Tyr395=) c.803A= (p.Tyr268=) c.290A= (p.Tyr97=) | |
11 | g.2587625A>C | CA379134750 | KCNQ1 | c.827A>C (p.Tyr276Ser) c.644A>C (p.Tyr215Ser) c.1184A>C (p.Tyr395Ser) c.803A>C (p.Tyr268Ser) c.290A>C (p.Tyr97Ser) | |
11 | g.2587625A>G | CA027563 | KCNQ1 | c.827A>G (p.Tyr276Cys) c.644A>G (p.Tyr215Cys) c.1184A>G (p.Tyr395Cys) c.803A>G (p.Tyr268Cys) c.290A>G (p.Tyr97Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587625A>T | CA379134751 | KCNQ1 | c.827A>T (p.Tyr276Phe) c.644A>T (p.Tyr215Phe) c.1184A>T (p.Tyr395Phe) c.803A>T (p.Tyr268Phe) c.290A>T (p.Tyr97Phe) | |
11 | g.2587626C>A | CA379134752 | KCNQ1 | c.828C>A (p.Tyr276Ter) c.645C>A (p.Tyr215Ter) c.1185C>A (p.Tyr395Ter) c.804C>A (p.Tyr268Ter) c.291C>A (p.Tyr97Ter) | |
11 | g.2587626C= | CA1948233299 | KCNQ1 | c.828C= (p.Tyr276=) c.645C= (p.Tyr215=) c.1185C= (p.Tyr395=) c.804C= (p.Tyr268=) c.291C= (p.Tyr97=) | |
11 | g.2587626C>G | CA379134753 | KCNQ1 | c.828C>G (p.Tyr276Ter) c.645C>G (p.Tyr215Ter) c.1185C>G (p.Tyr395Ter) c.804C>G (p.Tyr268Ter) c.291C>G (p.Tyr97Ter) | |
11 | g.2587626C>T | CA027576 | KCNQ1 | c.828C>T (p.Tyr276=) c.645C>T (p.Tyr215=) c.1185C>T (p.Tyr395=) c.804C>T (p.Tyr268=) c.291C>T (p.Tyr97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587627A>C | CA379134754 | KCNQ1 | c.829A>C (p.Ile277Leu) c.646A>C (p.Ile216Leu) c.1186A>C (p.Ile396Leu) c.805A>C (p.Ile269Leu) c.292A>C (p.Ile98Leu) | |
11 | g.2587627A>G | CA379134755 | KCNQ1 | c.829A>G (p.Ile277Val) c.646A>G (p.Ile216Val) c.1186A>G (p.Ile396Val) c.805A>G (p.Ile269Val) c.292A>G (p.Ile98Val) | |
11 | g.2587627A>T | CA379134756 | KCNQ1 | c.829A>T (p.Ile277Phe) c.646A>T (p.Ile216Phe) c.1186A>T (p.Ile396Phe) c.805A>T (p.Ile269Phe) c.292A>T (p.Ile98Phe) | |
11 | g.2587628T>A | CA379134757 | KCNQ1 | c.830T>A (p.Ile277Asn) c.647T>A (p.Ile216Asn) c.1187T>A (p.Ile396Asn) c.806T>A (p.Ile269Asn) c.293T>A (p.Ile98Asn) | |
11 | g.2587628T>C | CA379134759 | KCNQ1 | c.830T>C (p.Ile277Thr) c.647T>C (p.Ile216Thr) c.1187T>C (p.Ile396Thr) c.806T>C (p.Ile269Thr) c.293T>C (p.Ile98Thr) | |
11 | g.2587628T>G | CA379134758 | KCNQ1 | c.830T>G (p.Ile277Ser) c.647T>G (p.Ile216Ser) c.1187T>G (p.Ile396Ser) c.806T>G (p.Ile269Ser) c.293T>G (p.Ile98Ser) | |
11 | g.2587628_2587629delinsTC | CA1948233303 | KCNQ1 | c.830_831delinsTC (p.Ile277=) c.647_648delinsTC (p.Ile216=) c.1187_1188delinsTC (p.Ile396=) c.806_807delinsTC (p.Ile269=) c.293_294delinsTC (p.Ile98=) | |
11 | g.2587629C>A | CA472039137 | KCNQ1 | c.831C>A (p.Ile277=) c.648C>A (p.Ile216=) c.1188C>A (p.Ile396=) c.807C>A (p.Ile269=) c.294C>A (p.Ile98=) | ClinVar dbSNP |
11 | g.2587629C>G | CA379134760 | KCNQ1 | c.831C>G (p.Ile277Met) c.648C>G (p.Ile216Met) c.1188C>G (p.Ile396Met) c.807C>G (p.Ile269Met) c.294C>G (p.Ile98Met) | |
11 | g.2587629C>T | CA472039138 | KCNQ1 | c.831C>T (p.Ile277=) c.648C>T (p.Ile216=) c.1188C>T (p.Ile396=) c.807C>T (p.Ile269=) c.294C>T (p.Ile98=) | |
11 | g.2587630del | CA005493 | KCNQ1 | c.832del (p.Arg278GlyfsTer22) c.649del (p.Arg217GlyfsTer22) c.1189del (p.Arg397GlyfsTer22) c.808del (p.Arg270GlyfsTer22) c.295del (p.Arg99GlyfsTer22) | ClinVar dbSNP |
11 | g.2587630C>A | CA472039140 | KCNQ1 | c.832C>A (p.Arg278=) c.649C>A (p.Arg217=) c.1189C>A (p.Arg397=) c.808C>A (p.Arg270=) c.295C>A (p.Arg99=) | |
11 | g.2587630C= | CA1948233319 | KCNQ1 | c.832C= (p.Arg278=) c.649C= (p.Arg217=) c.1189C= (p.Arg397=) c.808C= (p.Arg270=) c.295C= (p.Arg99=) | |
11 | g.2587630C>G | CA027592 | KCNQ1 | c.832C>G (p.Arg278Gly) c.649C>G (p.Arg217Gly) c.1189C>G (p.Arg397Gly) c.808C>G (p.Arg270Gly) c.295C>G (p.Arg99Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587630C>T | CA005482 | KCNQ1 | c.832C>T (p.Arg278Trp) c.649C>T (p.Arg217Trp) c.1189C>T (p.Arg397Trp) c.808C>T (p.Arg270Trp) c.295C>T (p.Arg99Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587631G>A | CA027643 | KCNQ1 | c.833G>A (p.Arg278Gln) c.650G>A (p.Arg217Gln) c.1190G>A (p.Arg397Gln) c.809G>A (p.Arg270Gln) c.296G>A (p.Arg99Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587631G>C | CA379134761 | KCNQ1 | c.833G>C (p.Arg278Pro) c.650G>C (p.Arg217Pro) c.1190G>C (p.Arg397Pro) c.809G>C (p.Arg270Pro) c.296G>C (p.Arg99Pro) | |
11 | g.2587631G= | CA1948233331 | KCNQ1 | c.833G= (p.Arg278=) c.650G= (p.Arg217=) c.1190G= (p.Arg397=) c.809G= (p.Arg270=) c.296G= (p.Arg99=) |