Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
11 | g.2587631G>T | CA379134762 | KCNQ1 | c.833G>T (p.Arg278Leu) c.650G>T (p.Arg217Leu) c.1190G>T (p.Arg397Leu) c.809G>T (p.Arg270Leu) c.296G>T (p.Arg99Leu) | |
11 | g.2587632G>A | CA472039145 | KCNQ1 | c.834G>A (p.Arg278=) c.651G>A (p.Arg217=) c.1191G>A (p.Arg397=) c.810G>A (p.Arg270=) c.297G>A (p.Arg99=) | COSMIC COSMIC |
11 | g.2587632G>C | CA472039146 | KCNQ1 | c.834G>C (p.Arg278=) c.651G>C (p.Arg217=) c.1191G>C (p.Arg397=) c.810G>C (p.Arg270=) c.297G>C (p.Arg99=) | |
11 | g.2587632G>T | CA472039148 | KCNQ1 | c.834G>T (p.Arg278=) c.651G>T (p.Arg217=) c.1191G>T (p.Arg397=) c.810G>T (p.Arg270=) c.297G>T (p.Arg99=) | |
11 | g.2587633A>C | CA379134763 | KCNQ1 | c.835A>C (p.Lys279Gln) c.652A>C (p.Lys218Gln) c.1192A>C (p.Lys398Gln) c.811A>C (p.Lys271Gln) c.298A>C (p.Lys100Gln) | |
11 | g.2587633A>G | CA379134764 | KCNQ1 | c.835A>G (p.Lys279Glu) c.652A>G (p.Lys218Glu) c.1192A>G (p.Lys398Glu) c.811A>G (p.Lys271Glu) c.298A>G (p.Lys100Glu) | |
11 | g.2587633A>T | CA379134765 | KCNQ1 | c.835A>T (p.Lys279Ter) c.652A>T (p.Lys218Ter) c.1192A>T (p.Lys398Ter) c.811A>T (p.Lys271Ter) c.298A>T (p.Lys100Ter) | |
11 | g.2587634A= | CA1948233344 | KCNQ1 | c.836A= (p.Lys279=) c.653A= (p.Lys218=) c.1193A= (p.Lys398=) c.812A= (p.Lys271=) c.299A= (p.Lys100=) | |
11 | g.2587634A>C | CA379134766 | KCNQ1 | c.836A>C (p.Lys279Thr) c.653A>C (p.Lys218Thr) c.1193A>C (p.Lys398Thr) c.812A>C (p.Lys271Thr) c.299A>C (p.Lys100Thr) | |
11 | g.2587634A>G | CA005498 | KCNQ1 | c.836A>G (p.Lys279Arg) c.653A>G (p.Lys218Arg) c.1193A>G (p.Lys398Arg) c.812A>G (p.Lys271Arg) c.299A>G (p.Lys100Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.2587634A>T | CA379134767 | KCNQ1 | c.836A>T (p.Lys279Met) c.653A>T (p.Lys218Met) c.1193A>T (p.Lys398Met) c.812A>T (p.Lys271Met) c.299A>T (p.Lys100Met) | |
11 | g.2587635G>A | CA027669 | KCNQ1 | c.837G>A (p.Lys279=) c.654G>A (p.Lys218=) c.1194G>A (p.Lys398=) c.813G>A (p.Lys271=) c.300G>A (p.Lys100=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587635G>C | CA379134769 | KCNQ1 | c.837G>C (p.Lys279Asn) c.654G>C (p.Lys218Asn) c.1194G>C (p.Lys398Asn) c.813G>C (p.Lys271Asn) c.300G>C (p.Lys100Asn) | |
11 | g.2587635G= | CA1948233347 | KCNQ1 | c.837G= (p.Lys279=) c.654G= (p.Lys218=) c.1194G= (p.Lys398=) c.813G= (p.Lys271=) c.300G= (p.Lys100=) | |
11 | g.2587635G>T | CA379134768 | KCNQ1 | c.837G>T (p.Lys279Asn) c.654G>T (p.Lys218Asn) c.1194G>T (p.Lys398Asn) c.813G>T (p.Lys271Asn) c.300G>T (p.Lys100Asn) | |
11 | g.2587636G>A | CA379134770 | KCNQ1 | c.838G>A (p.Ala280Thr) c.655G>A (p.Ala219Thr) c.1195G>A (p.Ala399Thr) c.814G>A (p.Ala272Thr) c.301G>A (p.Ala101Thr) | |
11 | g.2587636G>C | CA379134771 | KCNQ1 | c.838G>C (p.Ala280Pro) c.655G>C (p.Ala219Pro) c.1195G>C (p.Ala399Pro) c.814G>C (p.Ala272Pro) c.301G>C (p.Ala101Pro) | gnomAD v4 |
11 | g.2587636G= | CA1948233358 | KCNQ1 | c.838G= (p.Ala280=) c.655G= (p.Ala219=) c.1195G= (p.Ala399=) c.814G= (p.Ala272=) c.301G= (p.Ala101=) | |
11 | g.2587636G>T | CA5822079 | KCNQ1 | c.838G>T (p.Ala280Ser) c.655G>T (p.Ala219Ser) c.1195G>T (p.Ala399Ser) c.814G>T (p.Ala272Ser) c.301G>T (p.Ala101Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587636_2587637delinsGC | CA1948233352 | KCNQ1 | c.838_839delinsGC (p.Ala280=) c.655_656delinsGC (p.Ala219=) c.1195_1196delinsGC (p.Ala399=) c.814_815delinsGC (p.Ala272=) c.301_302delinsGC (p.Ala101=) | |
11 | g.2587637C>A | CA379134772 | KCNQ1 | c.839C>A (p.Ala280Asp) c.656C>A (p.Ala219Asp) c.1196C>A (p.Ala399Asp) c.815C>A (p.Ala272Asp) c.302C>A (p.Ala101Asp) | gnomAD v4 COSMIC |
11 | g.2587637C= | CA1948233378 | KCNQ1 | c.839C= (p.Ala280=) c.656C= (p.Ala219=) c.1196C= (p.Ala399=) c.815C= (p.Ala272=) c.302C= (p.Ala101=) | |
11 | g.2587637C>G | CA10576879 | KCNQ1 | c.839C>G (p.Ala280Gly) c.656C>G (p.Ala219Gly) c.1196C>G (p.Ala399Gly) c.815C>G (p.Ala272Gly) c.302C>G (p.Ala101Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587637C>T | CA379134773 | KCNQ1 | c.839C>T (p.Ala280Val) c.656C>T (p.Ala219Val) c.1196C>T (p.Ala399Val) c.815C>T (p.Ala272Val) c.302C>T (p.Ala101Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587637_2587638delinsA | CA658761339 | KCNQ1 | c.839_840delinsA (p.Ala280AspfsTer20) c.656_657delinsA (p.Ala219AspfsTer20) c.1196_1197delinsA (p.Ala399AspfsTer20) c.815_816delinsA (p.Ala272AspfsTer20) c.302_303delinsA (p.Ala101AspfsTer20) | |
11 | g.2587642dup | CA005505 | KCNQ1 | c.844dup (p.Arg282ProfsTer?) c.661dup (p.Arg221ProfsTer?) c.1201dup (p.Arg401ProfsTer?) c.820dup (p.Arg274ProfsTer?) c.307dup (p.Arg103ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587641_2587642dup | CA2832563390 | KCNQ1 | c.843_844dup (p.Arg282ProfsTer19) c.660_661dup (p.Arg221ProfsTer19) c.1200_1201dup (p.Arg401ProfsTer19) c.819_820dup (p.Arg274ProfsTer19) c.306_307dup (p.Arg103ProfsTer19) | |
11 | g.2587642del | CA5822080 | KCNQ1 | c.844del (p.Arg282GlyfsTer18) c.661del (p.Arg221GlyfsTer18) c.1201del (p.Arg401GlyfsTer18) c.820del (p.Arg274GlyfsTer18) c.307del (p.Arg103GlyfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.2587638C>A | CA027736 | KCNQ1 | c.840C>A (p.Ala280=) c.657C>A (p.Ala219=) c.1197C>A (p.Ala399=) c.816C>A (p.Ala272=) c.303C>A (p.Ala101=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587638C= | CA1948233395 | KCNQ1 | c.840C= (p.Ala280=) c.657C= (p.Ala219=) c.1197C= (p.Ala399=) c.816C= (p.Ala272=) c.303C= (p.Ala101=) | |
11 | g.2587638C>G | CA027750 | KCNQ1 | c.840C>G (p.Ala280=) c.657C>G (p.Ala219=) c.1197C>G (p.Ala399=) c.816C>G (p.Ala272=) c.303C>G (p.Ala101=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587638C>T | CA472039163 | KCNQ1 | c.840C>T (p.Ala280=) c.657C>T (p.Ala219=) c.1197C>T (p.Ala399=) c.816C>T (p.Ala272=) c.303C>T (p.Ala101=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587639C>A | CA379134776 | KCNQ1 | c.841C>A (p.Pro281Thr) c.658C>A (p.Pro220Thr) c.1198C>A (p.Pro400Thr) c.817C>A (p.Pro273Thr) c.304C>A (p.Pro102Thr) | gnomAD v4 |
11 | g.2587639C= | CA1948233417 | KCNQ1 | c.841C= (p.Pro281=) c.658C= (p.Pro220=) c.1198C= (p.Pro400=) c.817C= (p.Pro273=) c.304C= (p.Pro102=) | |
11 | g.2587639C>G | CA379134775 | KCNQ1 | c.841C>G (p.Pro281Ala) c.658C>G (p.Pro220Ala) c.1198C>G (p.Pro400Ala) c.817C>G (p.Pro273Ala) c.304C>G (p.Pro102Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587639C>T | CA379134774 | KCNQ1 | c.841C>T (p.Pro281Ser) c.658C>T (p.Pro220Ser) c.1198C>T (p.Pro400Ser) c.817C>T (p.Pro273Ser) c.304C>T (p.Pro102Ser) | |
11 | g.2587640C>A | CA379134777 | KCNQ1 | c.842C>A (p.Pro281His) c.659C>A (p.Pro220His) c.1199C>A (p.Pro400His) c.818C>A (p.Pro273His) c.305C>A (p.Pro102His) | dbSNP |
11 | g.2587640C>G | CA379134779 | KCNQ1 | c.842C>G (p.Pro281Arg) c.659C>G (p.Pro220Arg) c.1199C>G (p.Pro400Arg) c.818C>G (p.Pro273Arg) c.305C>G (p.Pro102Arg) | |
11 | g.2587640C>T | CA379134778 | KCNQ1 | c.842C>T (p.Pro281Leu) c.659C>T (p.Pro220Leu) c.1199C>T (p.Pro400Leu) c.818C>T (p.Pro273Leu) c.305C>T (p.Pro102Leu) | |
11 | g.2587641C>A | CA472039171 | KCNQ1 | c.843C>A (p.Pro281=) c.660C>A (p.Pro220=) c.1200C>A (p.Pro400=) c.819C>A (p.Pro273=) c.306C>A (p.Pro102=) | |
11 | g.2587641C= | CA1948233424 | KCNQ1 | c.843C= (p.Pro281=) c.660C= (p.Pro220=) c.1200C= (p.Pro400=) c.819C= (p.Pro273=) c.306C= (p.Pro102=) | |
11 | g.2587641C>G | CA472039168 | KCNQ1 | c.843C>G (p.Pro281=) c.660C>G (p.Pro220=) c.1200C>G (p.Pro400=) c.819C>G (p.Pro273=) c.306C>G (p.Pro102=) | |
11 | g.2587641C>T | CA472039170 | KCNQ1 | c.843C>T (p.Pro281=) c.660C>T (p.Pro220=) c.1200C>T (p.Pro400=) c.819C>T (p.Pro273=) c.306C>T (p.Pro102=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587642C>A | CA472039173 | KCNQ1 | c.844C>A (p.Arg282=) c.661C>A (p.Arg221=) c.1201C>A (p.Arg401=) c.820C>A (p.Arg274=) c.307C>A (p.Arg103=) | |
11 | g.2587642C= | CA1948233428 | KCNQ1 | c.844C= (p.Arg282=) c.661C= (p.Arg221=) c.1201C= (p.Arg401=) c.820C= (p.Arg274=) c.307C= (p.Arg103=) | |
11 | g.2587642C>G | CA379134780 | KCNQ1 | c.844C>G (p.Arg282Gly) c.661C>G (p.Arg221Gly) c.1201C>G (p.Arg401Gly) c.820C>G (p.Arg274Gly) c.307C>G (p.Arg103Gly) | |
11 | g.2587642C>T | CA005511 | KCNQ1 | c.844C>T (p.Arg282Trp) c.661C>T (p.Arg221Trp) c.1201C>T (p.Arg401Trp) c.820C>T (p.Arg274Trp) c.307C>T (p.Arg103Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587643G>A | CA027778 | KCNQ1 | c.845G>A (p.Arg282Gln) c.662G>A (p.Arg221Gln) c.1202G>A (p.Arg401Gln) c.821G>A (p.Arg274Gln) c.308G>A (p.Arg103Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2587643G>C | CA379134781 | KCNQ1 | c.845G>C (p.Arg282Pro) c.662G>C (p.Arg221Pro) c.1202G>C (p.Arg401Pro) c.821G>C (p.Arg274Pro) c.308G>C (p.Arg103Pro) | ClinVar |
11 | g.2587643G= | CA1948233436 | KCNQ1 | c.845G= (p.Arg282=) c.662G= (p.Arg221=) c.1202G= (p.Arg401=) c.821G= (p.Arg274=) c.308G= (p.Arg103=) | |
11 | g.2587643G>T | CA379134782 | KCNQ1 | c.845G>T (p.Arg282Leu) c.662G>T (p.Arg221Leu) c.1202G>T (p.Arg401Leu) c.821G>T (p.Arg274Leu) c.308G>T (p.Arg103Leu) | COSMIC |
11 | g.2587644G>A | CA472039177 | KCNQ1 | c.846G>A (p.Arg282=) c.663G>A (p.Arg221=) c.1203G>A (p.Arg401=) c.822G>A (p.Arg274=) c.309G>A (p.Arg103=) | gnomAD v4 |
11 | g.2587644G>C | CA472039179 | KCNQ1 | c.846G>C (p.Arg282=) c.663G>C (p.Arg221=) c.1203G>C (p.Arg401=) c.822G>C (p.Arg274=) c.309G>C (p.Arg103=) | gnomAD v3 gnomAD v4 |
11 | g.2587644G>T | CA472039181 | KCNQ1 | c.846G>T (p.Arg282=) c.663G>T (p.Arg221=) c.1203G>T (p.Arg401=) c.822G>T (p.Arg274=) c.309G>T (p.Arg103=) | |
11 | g.2587645A= | CA1948233441 | KCNQ1 | c.847A= (p.Ser283=) c.664A= (p.Ser222=) c.1204A= (p.Ser402=) c.823A= (p.Ser275=) c.310A= (p.Ser104=) | |
11 | g.2587645A>C | CA379134783 | KCNQ1 | c.847A>C (p.Ser283Arg) c.664A>C (p.Ser222Arg) c.1204A>C (p.Ser402Arg) c.823A>C (p.Ser275Arg) c.310A>C (p.Ser104Arg) | |
11 | g.2587645A>G | CA379134784 | KCNQ1 | c.847A>G (p.Ser283Gly) c.664A>G (p.Ser222Gly) c.1204A>G (p.Ser402Gly) c.823A>G (p.Ser275Gly) c.310A>G (p.Ser104Gly) | dbSNP |
11 | g.2587645A>T | CA379134785 | KCNQ1 | c.847A>T (p.Ser283Cys) c.664A>T (p.Ser222Cys) c.1204A>T (p.Ser402Cys) c.823A>T (p.Ser275Cys) c.310A>T (p.Ser104Cys) | |
11 | g.2587646G>A | CA10582884 | KCNQ1 | c.848G>A (p.Ser283Asn) c.665G>A (p.Ser222Asn) c.1205G>A (p.Ser402Asn) c.824G>A (p.Ser275Asn) c.311G>A (p.Ser104Asn) | ClinVar dbSNP gnomAD v4 |
11 | g.2587646G>C | CA379134786 | KCNQ1 | c.848G>C (p.Ser283Thr) c.665G>C (p.Ser222Thr) c.1205G>C (p.Ser402Thr) c.824G>C (p.Ser275Thr) c.311G>C (p.Ser104Thr) | |
11 | g.2587646G= | CA1948233452 | KCNQ1 | c.848G= (p.Ser283=) c.665G= (p.Ser222=) c.1205G= (p.Ser402=) c.824G= (p.Ser275=) c.311G= (p.Ser104=) | |
11 | g.2587646G>T | CA379134787 | KCNQ1 | c.848G>T (p.Ser283Ile) c.665G>T (p.Ser222Ile) c.1205G>T (p.Ser402Ile) c.824G>T (p.Ser275Ile) c.311G>T (p.Ser104Ile) | |
11 | g.2587646_2587647delinsGC | CA1948233445 | KCNQ1 | c.848_849delinsGC (p.Ser283=) c.665_666delinsGC (p.Ser222=) c.1205_1206delinsGC (p.Ser402=) c.824_825delinsGC (p.Ser275=) c.311_312delinsGC (p.Ser104=) | |
11 | g.2587647C>A | CA379134788 | KCNQ1 | c.849C>A (p.Ser283Arg) c.666C>A (p.Ser222Arg) c.1206C>A (p.Ser402Arg) c.825C>A (p.Ser275Arg) c.312C>A (p.Ser104Arg) | |
11 | g.2587647C= | CA1948233463 | KCNQ1 | c.849C= (p.Ser283=) c.666C= (p.Ser222=) c.1206C= (p.Ser402=) c.825C= (p.Ser275=) c.312C= (p.Ser104=) | |
11 | g.2587647C>G | CA379134789 | KCNQ1 | c.849C>G (p.Ser283Arg) c.666C>G (p.Ser222Arg) c.1206C>G (p.Ser402Arg) c.825C>G (p.Ser275Arg) c.312C>G (p.Ser104Arg) | |
11 | g.2587647C>T | CA472039187 | KCNQ1 | c.849C>T (p.Ser283=) c.666C>T (p.Ser222=) c.1206C>T (p.Ser402=) c.825C>T (p.Ser275=) c.312C>T (p.Ser104=) | dbSNP |
11 | g.2587648del | CA1139661777 | KCNQ1 | c.850del (p.His284ThrfsTer16) c.667del (p.His223ThrfsTer16) c.1207del (p.His403ThrfsTer16) c.826del (p.His276ThrfsTer16) c.313del (p.His105ThrfsTer16) | ClinVar dbSNP |
11 | g.2587648C>A | CA379134790 | KCNQ1 | c.850C>A (p.His284Asn) c.667C>A (p.His223Asn) c.1207C>A (p.His403Asn) c.826C>A (p.His276Asn) c.313C>A (p.His105Asn) | |
11 | g.2587648C>G | CA379134791 | KCNQ1 | c.850C>G (p.His284Asp) c.667C>G (p.His223Asp) c.1207C>G (p.His403Asp) c.826C>G (p.His276Asp) c.313C>G (p.His105Asp) | |
11 | g.2587648C>T | CA379134792 | KCNQ1 | c.850C>T (p.His284Tyr) c.667C>T (p.His223Tyr) c.1207C>T (p.His403Tyr) c.826C>T (p.His276Tyr) c.313C>T (p.His105Tyr) | |
11 | g.2587651_2587663del | CA2573146069 | KCNQ1 | c.853_865del (p.Thr285ProfsTer11) c.670_682del (p.Thr224ProfsTer11) c.1210_1222del (p.Thr404ProfsTer11) c.829_841del (p.Thr277ProfsTer11) c.316_328del (p.Thr106ProfsTer11) | ClinVar dbSNP |
11 | g.2587649A>C | CA379134793 | KCNQ1 | c.851A>C (p.His284Pro) c.668A>C (p.His223Pro) c.1208A>C (p.His403Pro) c.827A>C (p.His276Pro) c.314A>C (p.His105Pro) | |
11 | g.2587649A>G | CA379134795 | KCNQ1 | c.851A>G (p.His284Arg) c.668A>G (p.His223Arg) c.1208A>G (p.His403Arg) c.827A>G (p.His276Arg) c.314A>G (p.His105Arg) | |
11 | g.2587649A>T | CA379134794 | KCNQ1 | c.851A>T (p.His284Leu) c.668A>T (p.His223Leu) c.1208A>T (p.His403Leu) c.827A>T (p.His276Leu) c.314A>T (p.His105Leu) | |
11 | g.2587650C>A | CA379134796 | KCNQ1 | c.852C>A (p.His284Gln) c.669C>A (p.His223Gln) c.1209C>A (p.His403Gln) c.828C>A (p.His276Gln) c.315C>A (p.His105Gln) | |
11 | g.2587650C= | CA1948233472 | KCNQ1 | c.852C= (p.His284=) c.669C= (p.His223=) c.1209C= (p.His403=) c.828C= (p.His276=) c.315C= (p.His105=) | |
11 | g.2587650C>G | CA379134797 | KCNQ1 | c.852C>G (p.His284Gln) c.669C>G (p.His223Gln) c.1209C>G (p.His403Gln) c.828C>G (p.His276Gln) c.315C>G (p.His105Gln) | gnomAD v4 |
11 | g.2587650C>T | CA027792 | KCNQ1 | c.852C>T (p.His284=) c.669C>T (p.His223=) c.1209C>T (p.His403=) c.828C>T (p.His276=) c.315C>T (p.His105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.2587651A>C | CA379134798 | KCNQ1 | c.853A>C (p.Thr285Pro) c.670A>C (p.Thr224Pro) c.1210A>C (p.Thr404Pro) c.829A>C (p.Thr277Pro) c.316A>C (p.Thr106Pro) | |
11 | g.2587651A>G | CA379134799 | KCNQ1 | c.853A>G (p.Thr285Ala) c.670A>G (p.Thr224Ala) c.1210A>G (p.Thr404Ala) c.829A>G (p.Thr277Ala) c.316A>G (p.Thr106Ala) | |
11 | g.2587651A>T | CA379134800 | KCNQ1 | c.853A>T (p.Thr285Ser) c.670A>T (p.Thr224Ser) c.1210A>T (p.Thr404Ser) c.829A>T (p.Thr277Ser) c.316A>T (p.Thr106Ser) | |
11 | g.2587652C>A | CA379134801 | KCNQ1 | c.854C>A (p.Thr285Asn) c.671C>A (p.Thr224Asn) c.1211C>A (p.Thr404Asn) c.830C>A (p.Thr277Asn) c.317C>A (p.Thr106Asn) | gnomAD v4 |
11 | g.2587652C= | CA1948233476 | KCNQ1 | c.854C= (p.Thr285=) c.671C= (p.Thr224=) c.1211C= (p.Thr404=) c.830C= (p.Thr277=) c.317C= (p.Thr106=) | |
11 | g.2587652C>G | CA379134802 | KCNQ1 | c.854C>G (p.Thr285Ser) c.671C>G (p.Thr224Ser) c.1211C>G (p.Thr404Ser) c.830C>G (p.Thr277Ser) c.317C>G (p.Thr106Ser) | ClinVar dbSNP gnomAD v4 |
11 | g.2587652C>T | CA379134803 | KCNQ1 | c.854C>T (p.Thr285Ile) c.671C>T (p.Thr224Ile) c.1211C>T (p.Thr404Ile) c.830C>T (p.Thr277Ile) c.317C>T (p.Thr106Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587653T>A | CA472039195 | KCNQ1 | c.855T>A (p.Thr285=) c.672T>A (p.Thr224=) c.1212T>A (p.Thr404=) c.831T>A (p.Thr277=) c.318T>A (p.Thr106=) | dbSNP gnomAD v4 |
11 | g.2587653T>C | CA472039197 | KCNQ1 | c.855T>C (p.Thr285=) c.672T>C (p.Thr224=) c.1212T>C (p.Thr404=) c.831T>C (p.Thr277=) c.318T>C (p.Thr106=) | |
11 | g.2587653T>G | CA472039198 | KCNQ1 | c.855T>G (p.Thr285=) c.672T>G (p.Thr224=) c.1212T>G (p.Thr404=) c.831T>G (p.Thr277=) c.318T>G (p.Thr106=) | |
11 | g.2587653T= | CA1948233482 | KCNQ1 | c.855T= (p.Thr285=) c.672T= (p.Thr224=) c.1212T= (p.Thr404=) c.831T= (p.Thr277=) c.318T= (p.Thr106=) | |
11 | g.2587654C>A | CA379134804 | KCNQ1 | c.856C>A (p.Leu286Met) c.673C>A (p.Leu225Met) c.1213C>A (p.Leu405Met) c.832C>A (p.Leu278Met) c.319C>A (p.Leu107Met) | |
11 | g.2587654C= | CA1948233489 | KCNQ1 | c.856C= (p.Leu286=) c.673C= (p.Leu225=) c.1213C= (p.Leu405=) c.832C= (p.Leu278=) c.319C= (p.Leu107=) | |
11 | g.2587654C>G | CA379134805 | KCNQ1 | c.856C>G (p.Leu286Val) c.673C>G (p.Leu225Val) c.1213C>G (p.Leu405Val) c.832C>G (p.Leu278Val) c.319C>G (p.Leu107Val) | gnomAD v4 |
11 | g.2587654C>T | CA472039200 | KCNQ1 | c.856C>T (p.Leu286=) c.673C>T (p.Leu225=) c.1213C>T (p.Leu405=) c.832C>T (p.Leu278=) c.319C>T (p.Leu107=) | ClinVar dbSNP |
11 | g.2587654_2587656delinsCTG | CA1948233488 | KCNQ1 | c.856_858delinsCTG (p.Leu286=) c.673_675delinsCTG (p.Leu225=) c.1213_1215delinsCTG (p.Leu405=) c.832_834delinsCTG (p.Leu278=) c.319_321delinsCTG (p.Leu107=) | |
11 | g.2587655T>A | CA379134806 | KCNQ1 | c.857T>A (p.Leu286Gln) c.674T>A (p.Leu225Gln) c.1214T>A (p.Leu405Gln) c.833T>A (p.Leu278Gln) c.320T>A (p.Leu107Gln) | |
11 | g.2587655T>C | CA379134808 | KCNQ1 | c.857T>C (p.Leu286Pro) c.674T>C (p.Leu225Pro) c.1214T>C (p.Leu405Pro) c.833T>C (p.Leu278Pro) c.320T>C (p.Leu107Pro) | |
11 | g.2587655T>G | CA379134807 | KCNQ1 | c.857T>G (p.Leu286Arg) c.674T>G (p.Leu225Arg) c.1214T>G (p.Leu405Arg) c.833T>G (p.Leu278Arg) c.320T>G (p.Leu107Arg) | |
11 | g.2587655_2587656del | CA1139661778 | KCNQ1 | c.857_858del (p.Leu286ProfsTer?) c.674_675del (p.Leu225ProfsTer?) c.1214_1215del (p.Leu405ProfsTer?) c.833_834del (p.Leu278ProfsTer?) c.320_321del (p.Leu107ProfsTer?) | ClinVar dbSNP |
11 | g.2587656G>A | CA472039204 | KCNQ1 | c.858G>A (p.Leu286=) c.675G>A (p.Leu225=) c.1215G>A (p.Leu405=) c.834G>A (p.Leu278=) c.321G>A (p.Leu107=) | |
11 | g.2587656G>C | CA472039206 | KCNQ1 | c.858G>C (p.Leu286=) c.675G>C (p.Leu225=) c.1215G>C (p.Leu405=) c.834G>C (p.Leu278=) c.321G>C (p.Leu107=) | |
11 | g.2587656G>T | CA472039207 | KCNQ1 | c.858G>T (p.Leu286=) c.675G>T (p.Leu225=) c.1215G>T (p.Leu405=) c.834G>T (p.Leu278=) c.321G>T (p.Leu107=) | |
11 | g.2587657C>A | CA379134809 | KCNQ1 | c.859C>A (p.Leu287Met) c.676C>A (p.Leu226Met) c.1216C>A (p.Leu406Met) c.835C>A (p.Leu279Met) c.322C>A (p.Leu108Met) | |
11 | g.2587657C= | CA1948233500 | KCNQ1 | c.859C= (p.Leu287=) c.676C= (p.Leu226=) c.1216C= (p.Leu406=) c.835C= (p.Leu279=) c.322C= (p.Leu108=) | |
11 | g.2587657C>G | CA379134810 | KCNQ1 | c.859C>G (p.Leu287Val) c.676C>G (p.Leu226Val) c.1216C>G (p.Leu406Val) c.835C>G (p.Leu279Val) c.322C>G (p.Leu108Val) | |
11 | g.2587657C>T | CA027802 | KCNQ1 | c.859C>T (p.Leu287=) c.676C>T (p.Leu226=) c.1216C>T (p.Leu406=) c.835C>T (p.Leu279=) c.322C>T (p.Leu108=) | dbSNP ExAC gnomAD v2 |
11 | g.2587658T>A | CA379134811 | KCNQ1 | c.860T>A (p.Leu287Gln) c.677T>A (p.Leu226Gln) c.1217T>A (p.Leu406Gln) c.836T>A (p.Leu279Gln) c.323T>A (p.Leu108Gln) | |
11 | g.2587658T>C | CA379134812 | KCNQ1 | c.860T>C (p.Leu287Pro) c.677T>C (p.Leu226Pro) c.1217T>C (p.Leu406Pro) c.836T>C (p.Leu279Pro) c.323T>C (p.Leu108Pro) | |
11 | g.2587658T>G | CA379134813 | KCNQ1 | c.860T>G (p.Leu287Arg) c.677T>G (p.Leu226Arg) c.1217T>G (p.Leu406Arg) c.836T>G (p.Leu279Arg) c.323T>G (p.Leu108Arg) | |
11 | g.2587659G>A | CA216332987 | KCNQ1 | c.861G>A (p.Leu287=) c.678G>A (p.Leu226=) c.1218G>A (p.Leu406=) c.837G>A (p.Leu279=) c.324G>A (p.Leu108=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587659G>C | CA472039213 | KCNQ1 | c.861G>C (p.Leu287=) c.678G>C (p.Leu226=) c.1218G>C (p.Leu406=) c.837G>C (p.Leu279=) c.324G>C (p.Leu108=) | |
11 | g.2587659G= | CA1948233507 | KCNQ1 | c.861G= (p.Leu287=) c.678G= (p.Leu226=) c.1218G= (p.Leu406=) c.837G= (p.Leu279=) c.324G= (p.Leu108=) | |
11 | g.2587659G>T | CA472039214 | KCNQ1 | c.861G>T (p.Leu287=) c.678G>T (p.Leu226=) c.1218G>T (p.Leu406=) c.837G>T (p.Leu279=) c.324G>T (p.Leu108=) | |
11 | g.2587660T>A | CA379134814 | KCNQ1 | c.862T>A (p.Ser288Thr) c.679T>A (p.Ser227Thr) c.1219T>A (p.Ser407Thr) c.838T>A (p.Ser280Thr) c.325T>A (p.Ser109Thr) | |
11 | g.2587660T>C | CA379134815 | KCNQ1 | c.862T>C (p.Ser288Pro) c.679T>C (p.Ser227Pro) c.1219T>C (p.Ser407Pro) c.838T>C (p.Ser280Pro) c.325T>C (p.Ser109Pro) | |
11 | g.2587660T>G | CA379134816 | KCNQ1 | c.862T>G (p.Ser288Ala) c.679T>G (p.Ser227Ala) c.1219T>G (p.Ser407Ala) c.838T>G (p.Ser280Ala) c.325T>G (p.Ser109Ala) | |
11 | g.2587660_2587661insG | CA2580615604 | KCNQ1 | c.862_863insG (p.Ser288CysfsTer?) c.679_680insG (p.Ser227CysfsTer?) c.1219_1220insG (p.Ser407CysfsTer?) c.838_839insG (p.Ser280CysfsTer?) c.325_326insG (p.Ser109CysfsTer?) | ClinVar |
11 | g.2587661C>A | CA379134817 | KCNQ1 | c.863C>A (p.Ser288Ter) c.680C>A (p.Ser227Ter) c.1220C>A (p.Ser407Ter) c.839C>A (p.Ser280Ter) c.326C>A (p.Ser109Ter) | |
11 | g.2587661C>G | CA379134818 | KCNQ1 | c.863C>G (p.Ser288Ter) c.680C>G (p.Ser227Ter) c.1220C>G (p.Ser407Ter) c.839C>G (p.Ser280Ter) c.326C>G (p.Ser109Ter) | |
11 | g.2587661C>T | CA379134819 | KCNQ1 | c.863C>T (p.Ser288Leu) c.680C>T (p.Ser227Leu) c.1220C>T (p.Ser407Leu) c.839C>T (p.Ser280Leu) c.326C>T (p.Ser109Leu) | ClinVar |
11 | g.2587662A= | CA1948233510 | KCNQ1 | c.864A= (p.Ser288=) c.681A= (p.Ser227=) c.1221A= (p.Ser407=) c.840A= (p.Ser280=) c.327A= (p.Ser109=) | |
11 | g.2587662A>C | CA472039220 | KCNQ1 | c.864A>C (p.Ser288=) c.681A>C (p.Ser227=) c.1221A>C (p.Ser407=) c.840A>C (p.Ser280=) c.327A>C (p.Ser109=) | dbSNP |
11 | g.2587662A>G | CA472039223 | KCNQ1 | c.864A>G (p.Ser288=) c.681A>G (p.Ser227=) c.1221A>G (p.Ser407=) c.840A>G (p.Ser280=) c.327A>G (p.Ser109=) | ClinVar dbSNP gnomAD v4 |
11 | g.2587662A>T | CA472039221 | KCNQ1 | c.864A>T (p.Ser288=) c.681A>T (p.Ser227=) c.1221A>T (p.Ser407=) c.840A>T (p.Ser280=) c.327A>T (p.Ser109=) | |
11 | g.2587663C>A | CA379134821 | KCNQ1 | c.865C>A (p.Pro289Thr) c.682C>A (p.Pro228Thr) c.1222C>A (p.Pro408Thr) c.841C>A (p.Pro281Thr) c.328C>A (p.Pro110Thr) | |
11 | g.2587663C= | CA1948233517 | KCNQ1 | c.865C= (p.Pro289=) c.682C= (p.Pro228=) c.1222C= (p.Pro408=) c.841C= (p.Pro281=) c.328C= (p.Pro110=) | |
11 | g.2587663C>G | CA005521 | KCNQ1 | c.865C>G (p.Pro289Ala) c.682C>G (p.Pro228Ala) c.1222C>G (p.Pro408Ala) c.841C>G (p.Pro281Ala) c.328C>G (p.Pro110Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587663C>T | CA379134820 | KCNQ1 | c.865C>T (p.Pro289Ser) c.682C>T (p.Pro228Ser) c.1222C>T (p.Pro408Ser) c.841C>T (p.Pro281Ser) c.328C>T (p.Pro110Ser) | |
11 | g.2587664C>A | CA379134822 | KCNQ1 | c.866C>A (p.Pro289His) c.683C>A (p.Pro228His) c.1223C>A (p.Pro408His) c.842C>A (p.Pro281His) c.329C>A (p.Pro110His) | |
11 | g.2587664C= | CA1948233523 | KCNQ1 | c.866C= (p.Pro289=) c.683C= (p.Pro228=) c.1223C= (p.Pro408=) c.842C= (p.Pro281=) c.329C= (p.Pro110=) | |
11 | g.2587664C>G | CA216333028 | KCNQ1 | c.866C>G (p.Pro289Arg) c.683C>G (p.Pro228Arg) c.1223C>G (p.Pro408Arg) c.842C>G (p.Pro281Arg) c.329C>G (p.Pro110Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.2587664C>T | CA379134823 | KCNQ1 | c.866C>T (p.Pro289Leu) c.683C>T (p.Pro228Leu) c.1223C>T (p.Pro408Leu) c.842C>T (p.Pro281Leu) c.329C>T (p.Pro110Leu) | |
11 | g.2587665C>A | CA472039231 | KCNQ1 | c.867C>A (p.Pro289=) c.684C>A (p.Pro228=) c.1224C>A (p.Pro408=) c.843C>A (p.Pro281=) c.330C>A (p.Pro110=) | |
11 | g.2587665C= | CA1948233532 | KCNQ1 | c.867C= (p.Pro289=) c.684C= (p.Pro228=) c.1224C= (p.Pro408=) c.843C= (p.Pro281=) c.330C= (p.Pro110=) | |
11 | g.2587665C>G | CA472039227 | KCNQ1 | c.867C>G (p.Pro289=) c.684C>G (p.Pro228=) c.1224C>G (p.Pro408=) c.843C>G (p.Pro281=) c.330C>G (p.Pro110=) | |
11 | g.2587665C>T | CA472039229 | KCNQ1 | c.867C>T (p.Pro289=) c.684C>T (p.Pro228=) c.1224C>T (p.Pro408=) c.843C>T (p.Pro281=) c.330C>T (p.Pro110=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587666del | CA2580082622 | KCNQ1 | c.868del (p.Ser290AlafsTer10) c.685del (p.Ser229AlafsTer10) c.1225del (p.Ser409AlafsTer10) c.844del (p.Ser282AlafsTer10) c.331del (p.Ser111AlafsTer10) | ClinVar |
11 | g.2587666A>C | CA379134824 | KCNQ1 | c.868A>C (p.Ser290Arg) c.685A>C (p.Ser229Arg) c.1225A>C (p.Ser409Arg) c.844A>C (p.Ser282Arg) c.331A>C (p.Ser111Arg) | |
11 | g.2587666A>G | CA379134825 | KCNQ1 | c.868A>G (p.Ser290Gly) c.685A>G (p.Ser229Gly) c.1225A>G (p.Ser409Gly) c.844A>G (p.Ser282Gly) c.331A>G (p.Ser111Gly) | gnomAD v4 COSMIC COSMIC |
11 | g.2587666A>T | CA379134826 | KCNQ1 | c.868A>T (p.Ser290Cys) c.685A>T (p.Ser229Cys) c.1225A>T (p.Ser409Cys) c.844A>T (p.Ser282Cys) c.331A>T (p.Ser111Cys) | |
11 | g.2587667G>A | CA379134827 | KCNQ1 | c.869G>A (p.Ser290Asn) c.686G>A (p.Ser229Asn) c.1226G>A (p.Ser409Asn) c.845G>A (p.Ser282Asn) c.332G>A (p.Ser111Asn) | |
11 | g.2587667G>C | CA379134828 | KCNQ1 | c.869G>C (p.Ser290Thr) c.686G>C (p.Ser229Thr) c.1226G>C (p.Ser409Thr) c.845G>C (p.Ser282Thr) c.332G>C (p.Ser111Thr) | |
11 | g.2587667G>T | CA379134829 | KCNQ1 | c.869G>T (p.Ser290Ile) c.686G>T (p.Ser229Ile) c.1226G>T (p.Ser409Ile) c.845G>T (p.Ser282Ile) c.332G>T (p.Ser111Ile) | |
11 | g.2587668C>A | CA379134830 | KCNQ1 | c.870C>A (p.Ser290Arg) c.687C>A (p.Ser229Arg) c.1227C>A (p.Ser409Arg) c.846C>A (p.Ser282Arg) c.333C>A (p.Ser111Arg) | |
11 | g.2587668C= | CA1948233539 | KCNQ1 | c.870C= (p.Ser290=) c.687C= (p.Ser229=) c.1227C= (p.Ser409=) c.846C= (p.Ser282=) c.333C= (p.Ser111=) | |
11 | g.2587668C>G | CA379134831 | KCNQ1 | c.870C>G (p.Ser290Arg) c.687C>G (p.Ser229Arg) c.1227C>G (p.Ser409Arg) c.846C>G (p.Ser282Arg) c.333C>G (p.Ser111Arg) | gnomAD v4 |
11 | g.2587668C>T | CA472039237 | KCNQ1 | c.870C>T (p.Ser290=) c.687C>T (p.Ser229=) c.1227C>T (p.Ser409=) c.846C>T (p.Ser282=) c.333C>T (p.Ser111=) | dbSNP |
11 | g.2587669C>A | CA379134833 | KCNQ1 | c.871C>A (p.Pro291Thr) c.688C>A (p.Pro230Thr) c.1228C>A (p.Pro410Thr) c.847C>A (p.Pro283Thr) c.334C>A (p.Pro112Thr) | gnomAD v4 |
11 | g.2587669C>G | CA379134834 | KCNQ1 | c.871C>G (p.Pro291Ala) c.688C>G (p.Pro230Ala) c.1228C>G (p.Pro410Ala) c.847C>G (p.Pro283Ala) c.334C>G (p.Pro112Ala) | |
11 | g.2587669C>T | CA379134832 | KCNQ1 | c.871C>T (p.Pro291Ser) c.688C>T (p.Pro230Ser) c.1228C>T (p.Pro410Ser) c.847C>T (p.Pro283Ser) c.334C>T (p.Pro112Ser) | |
11 | g.2587670C>A | CA379134837 | KCNQ1 | c.872C>A (p.Pro291His) c.689C>A (p.Pro230His) c.1229C>A (p.Pro410His) c.848C>A (p.Pro283His) c.335C>A (p.Pro112His) | |
11 | g.2587670C>G | CA379134835 | KCNQ1 | c.872C>G (p.Pro291Arg) c.689C>G (p.Pro230Arg) c.1229C>G (p.Pro410Arg) c.848C>G (p.Pro283Arg) c.335C>G (p.Pro112Arg) | |
11 | g.2587670C>T | CA379134836 | KCNQ1 | c.872C>T (p.Pro291Leu) c.689C>T (p.Pro230Leu) c.1229C>T (p.Pro410Leu) c.848C>T (p.Pro283Leu) c.335C>T (p.Pro112Leu) | |
11 | g.2587671C>A | CA472039241 | KCNQ1 | c.873C>A (p.Pro291=) c.690C>A (p.Pro230=) c.1230C>A (p.Pro410=) c.849C>A (p.Pro283=) c.336C>A (p.Pro112=) | |
11 | g.2587671C= | CA1948233542 | KCNQ1 | c.873C= (p.Pro291=) c.690C= (p.Pro230=) c.1230C= (p.Pro410=) c.849C= (p.Pro283=) c.336C= (p.Pro112=) | |
11 | g.2587671C>G | CA472039243 | KCNQ1 | c.873C>G (p.Pro291=) c.690C>G (p.Pro230=) c.1230C>G (p.Pro410=) c.849C>G (p.Pro283=) c.336C>G (p.Pro112=) | |
11 | g.2587671C>T | CA472039244 | KCNQ1 | c.873C>T (p.Pro291=) c.690C>T (p.Pro230=) c.1230C>T (p.Pro410=) c.849C>T (p.Pro283=) c.336C>T (p.Pro112=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587671_2587672delinsCA | CA1948233543 | KCNQ1 | c.873_874delinsCA (p.Pro291=) c.690_691delinsCA (p.Pro230=) c.1230_1231delinsCA (p.Pro410=) c.849_850delinsCA (p.Pro283=) c.336_337delinsCA (p.Pro112=) | |
11 | g.2587672A>C | CA379134838 | KCNQ1 | c.874A>C (p.Lys292Gln) c.691A>C (p.Lys231Gln) c.1231A>C (p.Lys411Gln) c.850A>C (p.Lys284Gln) c.337A>C (p.Lys113Gln) | |
11 | g.2587672A>G | CA379134839 | KCNQ1 | c.874A>G (p.Lys292Glu) c.691A>G (p.Lys231Glu) c.1231A>G (p.Lys411Glu) c.850A>G (p.Lys284Glu) c.337A>G (p.Lys113Glu) | |
11 | g.2587672A>T | CA379134840 | KCNQ1 | c.874A>T (p.Lys292Ter) c.691A>T (p.Lys231Ter) c.1231A>T (p.Lys411Ter) c.850A>T (p.Lys284Ter) c.337A>T (p.Lys113Ter) | |
11 | g.2587674del | CA916079962 | KCNQ1 | c.876del (p.Lys292AsnfsTer8) c.693del (p.Lys231AsnfsTer8) c.1233del (p.Lys411AsnfsTer8) c.852del (p.Lys284AsnfsTer8) c.339del (p.Lys113AsnfsTer8) | ClinVar dbSNP |
11 | g.2587673A>C | CA379134841 | KCNQ1 | c.875A>C (p.Lys292Thr) c.692A>C (p.Lys231Thr) c.1232A>C (p.Lys411Thr) c.851A>C (p.Lys284Thr) c.338A>C (p.Lys113Thr) | |
11 | g.2587673A>G | CA379134842 | KCNQ1 | c.875A>G (p.Lys292Arg) c.692A>G (p.Lys231Arg) c.1232A>G (p.Lys411Arg) c.851A>G (p.Lys284Arg) c.338A>G (p.Lys113Arg) | |
11 | g.2587673A>T | CA379134843 | KCNQ1 | c.875A>T (p.Lys292Ile) c.692A>T (p.Lys231Ile) c.1232A>T (p.Lys411Ile) c.851A>T (p.Lys284Ile) c.338A>T (p.Lys113Ile) | |
11 | g.2587674A= | CA1948233547 | KCNQ1 | c.876A= (p.Lys292=) c.693A= (p.Lys231=) c.1233A= (p.Lys411=) c.852A= (p.Lys284=) c.339A= (p.Lys113=) | |
11 | g.2587674A>C | CA379134844 | KCNQ1 | c.876A>C (p.Lys292Asn) c.693A>C (p.Lys231Asn) c.1233A>C (p.Lys411Asn) c.852A>C (p.Lys284Asn) c.339A>C (p.Lys113Asn) | dbSNP |
11 | g.2587674A>G | CA472039249 | KCNQ1 | c.876A>G (p.Lys292=) c.693A>G (p.Lys231=) c.1233A>G (p.Lys411=) c.852A>G (p.Lys284=) c.339A>G (p.Lys113=) | gnomAD v4 |
11 | g.2587674A>T | CA379134845 | KCNQ1 | c.876A>T (p.Lys292Asn) c.693A>T (p.Lys231Asn) c.1233A>T (p.Lys411Asn) c.852A>T (p.Lys284Asn) c.339A>T (p.Lys113Asn) | |
11 | g.2587675_2587676insACAC | CA2790203537 | KCNQ1 | c.877_878insACAC (p.Pro293HisfsTer?) c.694_695insACAC (p.Pro232HisfsTer?) c.1234_1235insACAC (p.Pro412HisfsTer?) c.853_854insACAC (p.Pro285HisfsTer?) c.340_341insACAC (p.Pro114HisfsTer?) | |
11 | g.2587675C>A | CA379134846 | KCNQ1 | c.877C>A (p.Pro293Thr) c.694C>A (p.Pro232Thr) c.1234C>A (p.Pro412Thr) c.853C>A (p.Pro285Thr) c.340C>A (p.Pro114Thr) | |
11 | g.2587675C= | CA1948233550 | KCNQ1 | c.877C= (p.Pro293=) c.694C= (p.Pro232=) c.1234C= (p.Pro412=) c.853C= (p.Pro285=) c.340C= (p.Pro114=) | |
11 | g.2587675C>G | CA379134847 | KCNQ1 | c.877C>G (p.Pro293Ala) c.694C>G (p.Pro232Ala) c.1234C>G (p.Pro412Ala) c.853C>G (p.Pro285Ala) c.340C>G (p.Pro114Ala) | |
11 | g.2587675C>T | CA379134848 | KCNQ1 | c.877C>T (p.Pro293Ser) c.694C>T (p.Pro232Ser) c.1234C>T (p.Pro412Ser) c.853C>T (p.Pro285Ser) c.340C>T (p.Pro114Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587677del | CA2612003603 | KCNQ1 | c.879del (p.Lys294ArgfsTer6) c.696del (p.Lys233ArgfsTer6) c.1236del (p.Lys413ArgfsTer6) c.855del (p.Lys286ArgfsTer6) c.342del (p.Lys115ArgfsTer6) | gnomAD v4 |
11 | g.2587676C>A | CA379134851 | KCNQ1 | c.878C>A (p.Pro293His) c.695C>A (p.Pro232His) c.1235C>A (p.Pro412His) c.854C>A (p.Pro285His) c.341C>A (p.Pro114His) | |
11 | g.2587676C>G | CA379134849 | KCNQ1 | c.878C>G (p.Pro293Arg) c.695C>G (p.Pro232Arg) c.1235C>G (p.Pro412Arg) c.854C>G (p.Pro285Arg) c.341C>G (p.Pro114Arg) | gnomAD v4 |
11 | g.2587676C>T | CA379134850 | KCNQ1 | c.878C>T (p.Pro293Leu) c.695C>T (p.Pro232Leu) c.1235C>T (p.Pro412Leu) c.854C>T (p.Pro285Leu) c.341C>T (p.Pro114Leu) | |
11 | g.2587677C>A | CA472039256 | KCNQ1 | c.879C>A (p.Pro293=) c.696C>A (p.Pro232=) c.1236C>A (p.Pro412=) c.855C>A (p.Pro285=) c.342C>A (p.Pro114=) | dbSNP |
11 | g.2587677C= | CA1948233554 | KCNQ1 | c.879C= (p.Pro293=) c.696C= (p.Pro232=) c.1236C= (p.Pro412=) c.855C= (p.Pro285=) c.342C= (p.Pro114=) | |
11 | g.2587677C>G | CA472039255 | KCNQ1 | c.879C>G (p.Pro293=) c.696C>G (p.Pro232=) c.1236C>G (p.Pro412=) c.855C>G (p.Pro285=) c.342C>G (p.Pro114=) | ClinVar dbSNP |
11 | g.2587677C>T | CA16613522 | KCNQ1 | c.879C>T (p.Pro293=) c.696C>T (p.Pro232=) c.1236C>T (p.Pro412=) c.855C>T (p.Pro285=) c.342C>T (p.Pro114=) | ClinVar dbSNP |
11 | g.2587678A>C | CA379134852 | KCNQ1 | c.880A>C (p.Lys294Gln) c.697A>C (p.Lys233Gln) c.1237A>C (p.Lys413Gln) c.856A>C (p.Lys286Gln) c.343A>C (p.Lys115Gln) | |
11 | g.2587678A>G | CA379134853 | KCNQ1 | c.880A>G (p.Lys294Glu) c.697A>G (p.Lys233Glu) c.1237A>G (p.Lys413Glu) c.856A>G (p.Lys286Glu) c.343A>G (p.Lys115Glu) | |
11 | g.2587678A>T | CA379134854 | KCNQ1 | c.880A>T (p.Lys294Ter) c.697A>T (p.Lys233Ter) c.1237A>T (p.Lys413Ter) c.856A>T (p.Lys286Ter) c.343A>T (p.Lys115Ter) | |
11 | g.2587679A= | CA1948233568 | KCNQ1 | c.881A= (p.Lys294=) c.698A= (p.Lys233=) c.1238A= (p.Lys413=) c.857A= (p.Lys286=) c.344A= (p.Lys115=) | |
11 | g.2587679A>C | CA379134855 | KCNQ1 | c.881A>C (p.Lys294Thr) c.698A>C (p.Lys233Thr) c.1238A>C (p.Lys413Thr) c.857A>C (p.Lys286Thr) c.344A>C (p.Lys115Thr) | |
11 | g.2587679A>G | CA5822081 | KCNQ1 | c.881A>G (p.Lys294Arg) c.698A>G (p.Lys233Arg) c.1238A>G (p.Lys413Arg) c.857A>G (p.Lys286Arg) c.344A>G (p.Lys115Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587679A>T | CA379134856 | KCNQ1 | c.881A>T (p.Lys294Met) c.698A>T (p.Lys233Met) c.1238A>T (p.Lys413Met) c.857A>T (p.Lys286Met) c.344A>T (p.Lys115Met) | |
11 | g.2587679_2587680insCACA | CA2790203538 | KCNQ1 | c.881_882insCACA (p.Lys294AsnfsTer?) c.698_699insCACA (p.Lys233AsnfsTer?) c.1238_1239insCACA (p.Lys413AsnfsTer?) c.857_858insCACA (p.Lys286AsnfsTer?) c.344_345insCACA (p.Lys115AsnfsTer?) | |
11 | g.2587679_2587680delinsAG | CA1948233567 | KCNQ1 | c.881_882delinsAG (p.Lys294=) c.698_699delinsAG (p.Lys233=) c.1238_1239delinsAG (p.Lys413=) c.857_858delinsAG (p.Lys286=) c.344_345delinsAG (p.Lys115=) | |
11 | g.2587680del | CA5822082 | KCNQ1 | c.882del (p.Lys295SerfsTer5) c.699del (p.Lys234SerfsTer5) c.1239del (p.Lys414SerfsTer5) c.858del (p.Lys287SerfsTer5) c.345del (p.Lys116SerfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587680G>A | CA472039262 | KCNQ1 | c.882G>A (p.Lys294=) c.699G>A (p.Lys233=) c.1239G>A (p.Lys413=) c.858G>A (p.Lys286=) c.345G>A (p.Lys115=) | |
11 | g.2587680G>C | CA379134857 | KCNQ1 | c.882G>C (p.Lys294Asn) c.699G>C (p.Lys233Asn) c.1239G>C (p.Lys413Asn) c.858G>C (p.Lys286Asn) c.345G>C (p.Lys115Asn) | |
11 | g.2587680G>T | CA379134858 | KCNQ1 | c.882G>T (p.Lys294Asn) c.699G>T (p.Lys233Asn) c.1239G>T (p.Lys413Asn) c.858G>T (p.Lys286Asn) c.345G>T (p.Lys115Asn) | |
11 | g.2587681A>C | CA379134859 | KCNQ1 | c.883A>C (p.Lys295Gln) c.700A>C (p.Lys234Gln) c.1240A>C (p.Lys414Gln) c.859A>C (p.Lys287Gln) c.346A>C (p.Lys116Gln) | |
11 | g.2587681A>G | CA379134860 | KCNQ1 | c.883A>G (p.Lys295Glu) c.700A>G (p.Lys234Glu) c.1240A>G (p.Lys414Glu) c.859A>G (p.Lys287Glu) c.346A>G (p.Lys116Glu) | |
11 | g.2587681A>T | CA379134861 | KCNQ1 | c.883A>T (p.Lys295Ter) c.700A>T (p.Lys234Ter) c.1240A>T (p.Lys414Ter) c.859A>T (p.Lys287Ter) c.346A>T (p.Lys116Ter) | ClinVar |
11 | g.2587682A>C | CA379134864 | KCNQ1 | c.884A>C (p.Lys295Thr) c.701A>C (p.Lys234Thr) c.1241A>C (p.Lys414Thr) c.860A>C (p.Lys287Thr) c.347A>C (p.Lys116Thr) | |
11 | g.2587682A>G | CA379134863 | KCNQ1 | c.884A>G (p.Lys295Arg) c.701A>G (p.Lys234Arg) c.1241A>G (p.Lys414Arg) c.860A>G (p.Lys287Arg) c.347A>G (p.Lys116Arg) | |
11 | g.2587682A>T | CA379134862 | KCNQ1 | c.884A>T (p.Lys295Met) c.701A>T (p.Lys234Met) c.1241A>T (p.Lys414Met) c.860A>T (p.Lys287Met) c.347A>T (p.Lys116Met) | |
11 | g.2587683G>A | CA472039269 | KCNQ1 | c.885G>A (p.Lys295=) c.702G>A (p.Lys234=) c.1242G>A (p.Lys414=) c.861G>A (p.Lys287=) c.348G>A (p.Lys116=) | |
11 | g.2587683G>C | CA379134865 | KCNQ1 | c.885G>C (p.Lys295Asn) c.702G>C (p.Lys234Asn) c.1242G>C (p.Lys414Asn) c.861G>C (p.Lys287Asn) c.348G>C (p.Lys116Asn) | |
11 | g.2587683G>T | CA379134866 | KCNQ1 | c.885G>T (p.Lys295Asn) c.702G>T (p.Lys234Asn) c.1242G>T (p.Lys414Asn) c.861G>T (p.Lys287Asn) c.348G>T (p.Lys116Asn) | |
11 | g.2587684T>A | CA379134867 | KCNQ1 | c.886T>A (p.Ser296Thr) c.703T>A (p.Ser235Thr) c.1243T>A (p.Ser415Thr) c.862T>A (p.Ser288Thr) c.349T>A (p.Ser117Thr) | |
11 | g.2587684T>C | CA379134868 | KCNQ1 | c.886T>C (p.Ser296Pro) c.703T>C (p.Ser235Pro) c.1243T>C (p.Ser415Pro) c.862T>C (p.Ser288Pro) c.349T>C (p.Ser117Pro) | |
11 | g.2587684T>G | CA379134869 | KCNQ1 | c.886T>G (p.Ser296Ala) c.703T>G (p.Ser235Ala) c.1243T>G (p.Ser415Ala) c.862T>G (p.Ser288Ala) c.349T>G (p.Ser117Ala) | |
11 | g.2587685C>A | CA379134872 | KCNQ1 | c.887C>A (p.Ser296Tyr) c.704C>A (p.Ser235Tyr) c.1244C>A (p.Ser415Tyr) c.863C>A (p.Ser288Tyr) c.350C>A (p.Ser117Tyr) | |
11 | g.2587685C>G | CA379134871 | KCNQ1 | c.887C>G (p.Ser296Cys) c.704C>G (p.Ser235Cys) c.1244C>G (p.Ser415Cys) c.863C>G (p.Ser288Cys) c.350C>G (p.Ser117Cys) | |
11 | g.2587685C>T | CA379134870 | KCNQ1 | c.887C>T (p.Ser296Phe) c.704C>T (p.Ser235Phe) c.1244C>T (p.Ser415Phe) c.863C>T (p.Ser288Phe) c.350C>T (p.Ser117Phe) | COSMIC COSMIC |
11 | g.2587686T>A | CA216333034 | KCNQ1 | c.888T>A (p.Ser296=) c.705T>A (p.Ser235=) c.1245T>A (p.Ser415=) c.864T>A (p.Ser288=) c.351T>A (p.Ser117=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587686T>C | CA472039276 | KCNQ1 | c.888T>C (p.Ser296=) c.705T>C (p.Ser235=) c.1245T>C (p.Ser415=) c.864T>C (p.Ser288=) c.351T>C (p.Ser117=) | |
11 | g.2587686T>G | CA472039277 | KCNQ1 | c.888T>G (p.Ser296=) c.705T>G (p.Ser235=) c.1245T>G (p.Ser415=) c.864T>G (p.Ser288=) c.351T>G (p.Ser117=) | |
11 | g.2587686T= | CA1948233581 | KCNQ1 | c.888T= (p.Ser296=) c.705T= (p.Ser235=) c.1245T= (p.Ser415=) c.864T= (p.Ser288=) c.351T= (p.Ser117=) | |
11 | g.2587687G>A | CA027860 | KCNQ1 | c.889G>A (p.Val297Met) c.706G>A (p.Val236Met) c.1246G>A (p.Val416Met) c.865G>A (p.Val289Met) c.352G>A (p.Val118Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587687G>C | CA379134873 | KCNQ1 | c.889G>C (p.Val297Leu) c.706G>C (p.Val236Leu) c.1246G>C (p.Val416Leu) c.865G>C (p.Val289Leu) c.352G>C (p.Val118Leu) | |
11 | g.2587687G= | CA1948233588 | KCNQ1 | c.889G= (p.Val297=) c.706G= (p.Val236=) c.1246G= (p.Val416=) c.865G= (p.Val289=) c.352G= (p.Val118=) | |
11 | g.2587687G>T | CA379134874 | KCNQ1 | c.889G>T (p.Val297Leu) c.706G>T (p.Val236Leu) c.1246G>T (p.Val416Leu) c.865G>T (p.Val289Leu) c.352G>T (p.Val118Leu) | |
11 | g.2587688T>A | CA379134875 | KCNQ1 | c.890T>A (p.Val297Glu) c.707T>A (p.Val236Glu) c.1247T>A (p.Val416Glu) c.866T>A (p.Val289Glu) c.353T>A (p.Val118Glu) | |
11 | g.2587688T>C | CA379134876 | KCNQ1 | c.890T>C (p.Val297Ala) c.707T>C (p.Val236Ala) c.1247T>C (p.Val416Ala) c.866T>C (p.Val289Ala) c.353T>C (p.Val118Ala) | |
11 | g.2587688T>G | CA379134877 | KCNQ1 | c.890T>G (p.Val297Gly) c.707T>G (p.Val236Gly) c.1247T>G (p.Val416Gly) c.866T>G (p.Val289Gly) c.353T>G (p.Val118Gly) | |
11 | g.2587689G>A | CA472039284 | KCNQ1 | c.891G>A (p.Val297=) c.708G>A (p.Val236=) c.1248G>A (p.Val416=) c.867G>A (p.Val289=) c.354G>A (p.Val118=) | ClinVar dbSNP |
11 | g.2587689G>C | CA472039285 | KCNQ1 | c.891G>C (p.Val297=) c.708G>C (p.Val236=) c.1248G>C (p.Val416=) c.867G>C (p.Val289=) c.354G>C (p.Val118=) | ClinVar gnomAD v4 |
11 | g.2587689G= | CA1948233594 | KCNQ1 | c.891G= (p.Val297=) c.708G= (p.Val236=) c.1248G= (p.Val416=) c.867G= (p.Val289=) c.354G= (p.Val118=) | |
11 | g.2587689G>T | CA472039287 | KCNQ1 | c.891G>T (p.Val297=) c.708G>T (p.Val236=) c.1248G>T (p.Val416=) c.867G>T (p.Val289=) c.354G>T (p.Val118=) | |
11 | g.2587690G>A | CA005526 | KCNQ1 | c.892G>A (p.Val298Met) c.709G>A (p.Val237Met) c.1249G>A (p.Val417Met) c.868G>A (p.Val290Met) c.355G>A (p.Val119Met) | ClinVar dbSNP gnomAD v4 |
11 | g.2587690G>C | CA379134879 | KCNQ1 | c.892G>C (p.Val298Leu) c.709G>C (p.Val237Leu) c.1249G>C (p.Val417Leu) c.868G>C (p.Val290Leu) c.355G>C (p.Val119Leu) | |
11 | g.2587690G= | CA1948233599 | KCNQ1 | c.892G= (p.Val298=) c.709G= (p.Val237=) c.1249G= (p.Val417=) c.868G= (p.Val290=) c.355G= (p.Val119=) | |
11 | g.2587690G>T | CA379134878 | KCNQ1 | c.892G>T (p.Val298Leu) c.709G>T (p.Val237Leu) c.1249G>T (p.Val417Leu) c.868G>T (p.Val290Leu) c.355G>T (p.Val119Leu) | gnomAD v4 |
11 | g.2587691T>A | CA379134880 | KCNQ1 | c.893T>A (p.Val298Glu) c.710T>A (p.Val237Glu) c.1250T>A (p.Val417Glu) c.869T>A (p.Val290Glu) c.356T>A (p.Val119Glu) | |
11 | g.2587691T>C | CA379134881 | KCNQ1 | c.893T>C (p.Val298Ala) c.710T>C (p.Val237Ala) c.1250T>C (p.Val417Ala) c.869T>C (p.Val290Ala) c.356T>C (p.Val119Ala) | |
11 | g.2587691T>G | CA379134882 | KCNQ1 | c.893T>G (p.Val298Gly) c.710T>G (p.Val237Gly) c.1250T>G (p.Val417Gly) c.869T>G (p.Val290Gly) c.356T>G (p.Val119Gly) | |
11 | g.2587691dup | CA2499220874 | KCNQ1 | c.893dup (p.Val299GlyfsTer?) c.710dup (p.Val238GlyfsTer?) c.1250dup (p.Val418GlyfsTer?) c.869dup (p.Val291GlyfsTer?) c.356dup (p.Val120GlyfsTer?) | ClinVar dbSNP |
11 | g.2587692G>A | CA472039292 | KCNQ1 | c.894G>A (p.Val298=) c.711G>A (p.Val237=) c.1251G>A (p.Val417=) c.870G>A (p.Val290=) c.357G>A (p.Val119=) | dbSNP |
11 | g.2587692G>C | CA472039295 | KCNQ1 | c.894G>C (p.Val298=) c.711G>C (p.Val237=) c.1251G>C (p.Val417=) c.870G>C (p.Val290=) c.357G>C (p.Val119=) | |
11 | g.2587692G= | CA1948233602 | KCNQ1 | c.894G= (p.Val298=) c.711G= (p.Val237=) c.1251G= (p.Val417=) c.870G= (p.Val290=) c.357G= (p.Val119=) | |
11 | g.2587692G>T | CA472039294 | KCNQ1 | c.894G>T (p.Val298=) c.711G>T (p.Val237=) c.1251G>T (p.Val417=) c.870G>T (p.Val290=) c.357G>T (p.Val119=) | ClinVar |
11 | g.2587693G>A | CA379134883 | KCNQ1 | c.894+1G>A (n.894+1G>A) c.711+1G>A (n.711+1G>A) c.1251+1G>A (n.1251+1G>A) c.870+1G>A (n.870+1G>A) c.357+1G>A (n.357+1G>A) | ClinVar dbSNP |
11 | g.2587693G>C | CA379134884 | KCNQ1 | c.894+1G>C (n.894+1G>C) c.711+1G>C (n.711+1G>C) c.1251+1G>C (n.1251+1G>C) c.870+1G>C (n.870+1G>C) c.357+1G>C (n.357+1G>C) | |
11 | g.2587693G= | CA1948233607 | KCNQ1 | c.894+1G= (n.894+1G=) c.711+1G= (n.711+1G=) c.1251+1G= (n.1251+1G=) c.870+1G= (n.870+1G=) c.357+1G= (n.357+1G=) | |
11 | g.2587693G>T | CA379134885 | KCNQ1 | c.894+1G>T (n.894+1G>T) c.711+1G>T (n.711+1G>T) c.1251+1G>T (n.1251+1G>T) c.870+1G>T (n.870+1G>T) c.357+1G>T (n.357+1G>T) | |
11 | g.2587694T>A | CA379134886 | KCNQ1 | c.894+2T>A (n.894+2T>A) c.711+2T>A (n.711+2T>A) c.1251+2T>A (n.1251+2T>A) c.870+2T>A (n.870+2T>A) c.357+2T>A (n.357+2T>A) | |
11 | g.2587694T>C | CA005533 | KCNQ1 | c.894+2T>C (n.894+2T>C) c.711+2T>C (n.711+2T>C) c.1251+2T>C (n.1251+2T>C) c.870+2T>C (n.870+2T>C) c.357+2T>C (n.357+2T>C) | ClinVar dbSNP gnomAD v4 |
11 | g.2587694T>G | CA379134887 | KCNQ1 | c.894+2T>G (n.894+2T>G) c.711+2T>G (n.711+2T>G) c.1251+2T>G (n.1251+2T>G) c.870+2T>G (n.870+2T>G) c.357+2T>G (n.357+2T>G) | |
11 | g.2587694T= | CA1948233614 | KCNQ1 | c.894+2T= (n.894+2T=) c.711+2T= (n.711+2T=) c.1251+2T= (n.1251+2T=) c.870+2T= (n.870+2T=) c.357+2T= (n.357+2T=) | |
11 | g.2587695G>A | CA913188345 | KCNQ1 | c.894+3G>A (n.894+3G>A) c.711+3G>A (n.711+3G>A) c.1251+3G>A (n.1251+3G>A) c.870+3G>A (n.870+3G>A) c.357+3G>A (n.357+3G>A) | ClinVar dbSNP |
11 | g.2587695G>C | CA1948233624 | KCNQ1 | c.894+3G>C (n.894+3G>C) c.711+3G>C (n.711+3G>C) c.1251+3G>C (n.1251+3G>C) c.870+3G>C (n.870+3G>C) c.357+3G>C (n.357+3G>C) | dbSNP |
11 | g.2587695G= | CA1948233621 | KCNQ1 | c.894+3G= (n.894+3G=) c.711+3G= (n.711+3G=) c.1251+3G= (n.1251+3G=) c.870+3G= (n.870+3G=) c.357+3G= (n.357+3G=) | |
11 | g.2587696A= | CA1948233628 | KCNQ1 | c.894+4A= (n.894+4A=) c.711+4A= (n.711+4A=) c.1251+4A= (n.1251+4A=) c.870+4A= (n.870+4A=) c.357+4A= (n.357+4A=) | |
11 | g.2587696A>G | CA2612003633 | KCNQ1 | c.894+4A>G (n.894+4A>G) c.711+4A>G (n.711+4A>G) c.1251+4A>G (n.1251+4A>G) c.870+4A>G (n.870+4A>G) c.357+4A>G (n.357+4A>G) | dbSNP gnomAD v4 |
11 | g.2587696A>T | CA597111054 | KCNQ1 | c.894+4A>T (n.894+4A>T) c.711+4A>T (n.711+4A>T) c.1251+4A>T (n.1251+4A>T) c.870+4A>T (n.870+4A>T) c.357+4A>T (n.357+4A>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587697G>A | CA891842704 | KCNQ1 | c.894+5G>A (n.894+5G>A) c.711+5G>A (n.711+5G>A) c.1251+5G>A (n.1251+5G>A) c.870+5G>A (n.870+5G>A) c.357+5G>A (n.357+5G>A) | ClinVar dbSNP gnomAD v4 |
11 | g.2587697G= | CA1948233633 | KCNQ1 | c.894+5G= (n.894+5G=) c.711+5G= (n.711+5G=) c.1251+5G= (n.1251+5G=) c.870+5G= (n.870+5G=) c.357+5G= (n.357+5G=) | |
11 | g.2587698T>C | CA028056 | KCNQ1 | c.894+6T>C (n.894+6T>C) c.711+6T>C (n.711+6T>C) c.1251+6T>C (n.1251+6T>C) c.870+6T>C (n.870+6T>C) c.357+6T>C (n.357+6T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587698T= | CA1948233644 | KCNQ1 | c.894+6T= (n.894+6T=) c.711+6T= (n.711+6T=) c.1251+6T= (n.1251+6T=) c.870+6T= (n.870+6T=) c.357+6T= (n.357+6T=) | |
11 | g.2587699A= | CA1948233646 | KCNQ1 | c.894+7A= (n.894+7A=) c.711+7A= (n.711+7A=) c.1251+7A= (n.1251+7A=) c.870+7A= (n.870+7A=) c.357+7A= (n.357+7A=) | |
11 | g.2587699A>G | CA028067 | KCNQ1 | c.894+7A>G (n.894+7A>G) c.711+7A>G (n.711+7A>G) c.1251+7A>G (n.1251+7A>G) c.870+7A>G (n.870+7A>G) c.357+7A>G (n.357+7A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587700G>A | CA2612003641 | KCNQ1 | c.894+8G>A (n.894+8G>A) c.711+8G>A (n.711+8G>A) c.1251+8G>A (n.1251+8G>A) c.870+8G>A (n.870+8G>A) c.357+8G>A (n.357+8G>A) | gnomAD v4 |
11 | g.2587700G>C | CA2790203539 | KCNQ1 | c.894+8G>C (n.894+8G>C) c.711+8G>C (n.711+8G>C) c.1251+8G>C (n.1251+8G>C) c.870+8G>C (n.870+8G>C) c.357+8G>C (n.357+8G>C) | |
11 | g.2587701C>A | CA028089 | KCNQ1 | c.894+9C>A (n.894+9C>A) c.711+9C>A (n.711+9C>A) c.1251+9C>A (n.1251+9C>A) c.870+9C>A (n.870+9C>A) c.357+9C>A (n.357+9C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587701C= | CA1948233660 | KCNQ1 | c.894+9C= (n.894+9C=) c.711+9C= (n.711+9C=) c.1251+9C= (n.1251+9C=) c.870+9C= (n.870+9C=) c.357+9C= (n.357+9C=) | |
11 | g.2587701C>T | CA597111055 | KCNQ1 | c.894+9C>T (n.894+9C>T) c.711+9C>T (n.711+9C>T) c.1251+9C>T (n.1251+9C>T) c.870+9C>T (n.870+9C>T) c.357+9C>T (n.357+9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587702C= | CA1948233666 | KCNQ1 | c.894+10C= (n.894+10C=) c.711+10C= (n.711+10C=) c.1251+10C= (n.1251+10C=) c.870+10C= (n.870+10C=) c.357+10C= (n.357+10C=) | |
11 | g.2587702C>T | CA216333126 | KCNQ1 | c.894+10C>T (n.894+10C>T) c.711+10C>T (n.711+10C>T) c.1251+10C>T (n.1251+10C>T) c.870+10C>T (n.870+10C>T) c.357+10C>T (n.357+10C>T) | dbSNP |
11 | g.2587703C>A | CA2839537068 | KCNQ1 | c.894+11C>A (n.894+11C>A) c.711+11C>A (n.711+11C>A) c.1251+11C>A (n.1251+11C>A) c.870+11C>A (n.870+11C>A) c.357+11C>A (n.357+11C>A) | |
11 | g.2587703C= | CA1948233674 | KCNQ1 | c.894+11C= (n.894+11C=) c.711+11C= (n.711+11C=) c.1251+11C= (n.1251+11C=) c.870+11C= (n.870+11C=) c.357+11C= (n.357+11C=) | |
11 | g.2587703C>T | CA913548357 | KCNQ1 | c.894+11C>T (n.894+11C>T) c.711+11C>T (n.711+11C>T) c.1251+11C>T (n.1251+11C>T) c.870+11C>T (n.870+11C>T) c.357+11C>T (n.357+11C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587704A= | CA1948233681 | KCNQ1 | c.894+12A= (n.894+12A=) c.711+12A= (n.711+12A=) c.1251+12A= (n.1251+12A=) c.870+12A= (n.870+12A=) c.357+12A= (n.357+12A=) | |
11 | g.2587704A>C | CA027888 | KCNQ1 | c.894+12A>C (n.894+12A>C) c.711+12A>C (n.711+12A>C) c.1251+12A>C (n.1251+12A>C) c.870+12A>C (n.870+12A>C) c.357+12A>C (n.357+12A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587705C>A | CA027900 | KCNQ1 | c.894+13C>A (n.894+13C>A) c.711+13C>A (n.711+13C>A) c.1251+13C>A (n.1251+13C>A) c.870+13C>A (n.870+13C>A) c.357+13C>A (n.357+13C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587705C= | CA1948233687 | KCNQ1 | c.894+13C= (n.894+13C=) c.711+13C= (n.711+13C=) c.1251+13C= (n.1251+13C=) c.870+13C= (n.870+13C=) c.357+13C= (n.357+13C=) | |
11 | g.2587705C>G | CA027919 | KCNQ1 | c.894+13C>G (n.894+13C>G) c.711+13C>G (n.711+13C>G) c.1251+13C>G (n.1251+13C>G) c.870+13C>G (n.870+13C>G) c.357+13C>G (n.357+13C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587705C>T | CA027925 | KCNQ1 | c.894+13C>T (n.894+13C>T) c.711+13C>T (n.711+13C>T) c.1251+13C>T (n.1251+13C>T) c.870+13C>T (n.870+13C>T) c.357+13C>T (n.357+13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587706C= | CA1948233702 | KCNQ1 | c.894+14C= (n.894+14C=) c.711+14C= (n.711+14C=) c.1251+14C= (n.1251+14C=) c.870+14C= (n.870+14C=) c.357+14C= (n.357+14C=) | |
11 | g.2587706C>G | CA1948233703 | KCNQ1 | c.894+14C>G (n.894+14C>G) c.711+14C>G (n.711+14C>G) c.1251+14C>G (n.1251+14C>G) c.870+14C>G (n.870+14C>G) c.357+14C>G (n.357+14C>G) | dbSNP |
11 | g.2587706C>T | CA216333160 | KCNQ1 | c.894+14C>T (n.894+14C>T) c.711+14C>T (n.711+14C>T) c.1251+14C>T (n.1251+14C>T) c.870+14C>T (n.870+14C>T) c.357+14C>T (n.357+14C>T) | dbSNP |
11 | g.2587707T>G | CA597111061 | KCNQ1 | c.894+15T>G (n.894+15T>G) c.711+15T>G (n.711+15T>G) c.1251+15T>G (n.1251+15T>G) c.870+15T>G (n.870+15T>G) c.357+15T>G (n.357+15T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587707T= | CA1948233709 | KCNQ1 | c.894+15T= (n.894+15T=) c.711+15T= (n.711+15T=) c.1251+15T= (n.1251+15T=) c.870+15T= (n.870+15T=) c.357+15T= (n.357+15T=) | |
11 | g.2587707_2587721delinsTGCCACCAGGGCAGG | CA1948233710 | KCNQ1 | c.894+15_894+29delinsTGCCACCAGGGCAGG (n.894+15_894+29delinsTGCCACCAGGGCAGG) c.711+15_711+29delinsTGCCACCAGGGCAGG (n.711+15_711+29delinsTGCCACCAGGGCAGG) c.1251+15_1251+29delinsTGCCACCAGGGCAGG (n.1251+15_1251+29delinsTGCCACCAGGGCAGG) c.870+15_870+29delinsTGCCACCAGGGCAGG (n.870+15_870+29delinsTGCCACCAGGGCAGG) c.357+15_357+29delinsTGCCACCAGGGCAGG (n.357+15_357+29delinsTGCCACCAGGGCAGG) | |
11 | g.2587708G>A | CA1948233715 | KCNQ1 | c.894+16G>A (n.894+16G>A) c.711+16G>A (n.711+16G>A) c.1251+16G>A (n.1251+16G>A) c.870+16G>A (n.870+16G>A) c.357+16G>A (n.357+16G>A) | dbSNP |
11 | g.2587708G= | CA1948233716 | KCNQ1 | c.894+16G= (n.894+16G=) c.711+16G= (n.711+16G=) c.1251+16G= (n.1251+16G=) c.870+16G= (n.870+16G=) c.357+16G= (n.357+16G=) | |
11 | g.2587711_2587724del | CA597111063 | KCNQ1 | c.894+19_894+32del (n.894+19_894+32del) c.711+19_711+32del (n.711+19_711+32del) c.1251+19_1251+32del (n.1251+19_1251+32del) c.870+19_870+32del (n.870+19_870+32del) c.357+19_357+32del (n.357+19_357+32del) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587709C>A | CA2841921260 | KCNQ1 | c.894+17C>A (n.894+17C>A) c.711+17C>A (n.711+17C>A) c.1251+17C>A (n.1251+17C>A) c.870+17C>A (n.870+17C>A) c.357+17C>A (n.357+17C>A) | |
11 | g.2587709C>T | CA2612003664 | KCNQ1 | c.894+17C>T (n.894+17C>T) c.711+17C>T (n.711+17C>T) c.1251+17C>T (n.1251+17C>T) c.870+17C>T (n.870+17C>T) c.357+17C>T (n.357+17C>T) | gnomAD v4 |
11 | g.2587712C>T | CA2612003666 | KCNQ1 | c.894+20C>T (n.894+20C>T) c.711+20C>T (n.711+20C>T) c.1251+20C>T (n.1251+20C>T) c.870+20C>T (n.870+20C>T) c.357+20C>T (n.357+20C>T) | gnomAD v4 |
11 | g.2587712_2587717delinsCCAGGG | CA1948233718 | KCNQ1 | c.894+20_894+25delinsCCAGGG (n.894+20_894+25delinsCCAGGG) c.711+20_711+25delinsCCAGGG (n.711+20_711+25delinsCCAGGG) c.1251+20_1251+25delinsCCAGGG (n.1251+20_1251+25delinsCCAGGG) c.870+20_870+25delinsCCAGGG (n.870+20_870+25delinsCCAGGG) c.357+20_357+25delinsCCAGGG (n.357+20_357+25delinsCCAGGG) | |
11 | g.2587713C= | CA1948233723 | KCNQ1 | c.894+21C= (n.894+21C=) c.711+21C= (n.711+21C=) c.1251+21C= (n.1251+21C=) c.870+21C= (n.870+21C=) c.357+21C= (n.357+21C=) | |
11 | g.2587713C>G | CA597111064 | KCNQ1 | c.894+21C>G (n.894+21C>G) c.711+21C>G (n.711+21C>G) c.1251+21C>G (n.1251+21C>G) c.870+21C>G (n.870+21C>G) c.357+21C>G (n.357+21C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587713C>T | CA1948233724 | KCNQ1 | c.894+21C>T (n.894+21C>T) c.711+21C>T (n.711+21C>T) c.1251+21C>T (n.1251+21C>T) c.870+21C>T (n.870+21C>T) c.357+21C>T (n.357+21C>T) | dbSNP gnomAD v4 |
11 | g.2587719_2587723del | CA674946034 | KCNQ1 | c.894+27_894+31del (n.894+27_894+31del) c.711+27_711+31del (n.711+27_711+31del) c.1251+27_1251+31del (n.1251+27_1251+31del) c.870+27_870+31del (n.870+27_870+31del) c.357+27_357+31del (n.357+27_357+31del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587715G= | CA1948233727 | KCNQ1 | c.894+23G= (n.894+23G=) c.711+23G= (n.711+23G=) c.1251+23G= (n.1251+23G=) c.870+23G= (n.870+23G=) c.357+23G= (n.357+23G=) | |
11 | g.2587715G>T | CA216333168 | KCNQ1 | c.894+23G>T (n.894+23G>T) c.711+23G>T (n.711+23G>T) c.1251+23G>T (n.1251+23G>T) c.870+23G>T (n.870+23G>T) c.357+23G>T (n.357+23G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587719A= | CA1948233728 | KCNQ1 | c.894+27A= (n.894+27A=) c.711+27A= (n.711+27A=) c.1251+27A= (n.1251+27A=) c.870+27A= (n.870+27A=) c.357+27A= (n.357+27A=) | |
11 | g.2587719A>G | CA2612003675 | KCNQ1 | c.894+27A>G (n.894+27A>G) c.711+27A>G (n.711+27A>G) c.1251+27A>G (n.1251+27A>G) c.870+27A>G (n.870+27A>G) c.357+27A>G (n.357+27A>G) | gnomAD v4 |
11 | g.2587720_2587724dup | CA597111065 | KCNQ1 | c.894+28_894+32dup (n.894+28_894+32dup) c.711+28_711+32dup (n.711+28_711+32dup) c.1251+28_1251+32dup (n.1251+28_1251+32dup) c.870+28_870+32dup (n.870+28_870+32dup) c.357+28_357+32dup (n.357+28_357+32dup) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587721G>A | CA216333181 | KCNQ1 | c.894+29G>A (n.894+29G>A) c.711+29G>A (n.711+29G>A) c.1251+29G>A (n.1251+29G>A) c.870+29G>A (n.870+29G>A) c.357+29G>A (n.357+29G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587721G>C | CA674946044 | KCNQ1 | c.894+29G>C (n.894+29G>C) c.711+29G>C (n.711+29G>C) c.1251+29G>C (n.1251+29G>C) c.870+29G>C (n.870+29G>C) c.357+29G>C (n.357+29G>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587721G= | CA1948233733 | KCNQ1 | c.894+29G= (n.894+29G=) c.711+29G= (n.711+29G=) c.1251+29G= (n.1251+29G=) c.870+29G= (n.870+29G=) c.357+29G= (n.357+29G=) | |
11 | g.2587722G>A | CA674946057 | KCNQ1 | c.894+30G>A (n.894+30G>A) c.711+30G>A (n.711+30G>A) c.1251+30G>A (n.1251+30G>A) c.870+30G>A (n.870+30G>A) c.357+30G>A (n.357+30G>A) | dbSNP |
11 | g.2587722G= | CA1948233740 | KCNQ1 | c.894+30G= (n.894+30G=) c.711+30G= (n.711+30G=) c.1251+30G= (n.1251+30G=) c.870+30G= (n.870+30G=) c.357+30G= (n.357+30G=) | |
11 | g.2587722G>T | CA027942 | KCNQ1 | c.894+30G>T (n.894+30G>T) c.711+30G>T (n.711+30G>T) c.1251+30G>T (n.1251+30G>T) c.870+30G>T (n.870+30G>T) c.357+30G>T (n.357+30G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587724C= | CA1948233741 | KCNQ1 | c.894+32C= (n.894+32C=) c.711+32C= (n.711+32C=) c.1251+32C= (n.1251+32C=) c.870+32C= (n.870+32C=) c.357+32C= (n.357+32C=) | |
11 | g.2587724C>G | CA1948233742 | KCNQ1 | c.894+32C>G (n.894+32C>G) c.711+32C>G (n.711+32C>G) c.1251+32C>G (n.1251+32C>G) c.870+32C>G (n.870+32C>G) c.357+32C>G (n.357+32C>G) | dbSNP |
11 | g.2587724C>T | CA2612003681 | KCNQ1 | c.894+32C>T (n.894+32C>T) c.711+32C>T (n.711+32C>T) c.1251+32C>T (n.1251+32C>T) c.870+32C>T (n.870+32C>T) c.357+32C>T (n.357+32C>T) | gnomAD v4 |
11 | g.2587725T>C | CA027955 | KCNQ1 | c.894+33T>C (n.894+33T>C) c.711+33T>C (n.711+33T>C) c.1251+33T>C (n.1251+33T>C) c.870+33T>C (n.870+33T>C) c.357+33T>C (n.357+33T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587725T= | CA1948233743 | KCNQ1 | c.894+33T= (n.894+33T=) c.711+33T= (n.711+33T=) c.1251+33T= (n.1251+33T=) c.870+33T= (n.870+33T=) c.357+33T= (n.357+33T=) |