Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2587594G>A | CA005418 | KCNQ1 | c.796G>A (p.Glu266Lys) c.613G>A (p.Glu205Lys) c.1153G>A (p.Glu385Lys) c.772G>A (p.Glu258Lys) c.259G>A (p.Glu87Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587594G>C | CA379134687 | KCNQ1 | c.796G>C (p.Glu266Gln) c.613G>C (p.Glu205Gln) c.1153G>C (p.Glu385Gln) c.772G>C (p.Glu258Gln) c.259G>C (p.Glu87Gln) | ClinVar dbSNP gnomAD v4 |
11 | g.2587594G= | CA1948233094 | KCNQ1 | c.796G= (p.Glu266=) c.613G= (p.Glu205=) c.1153G= (p.Glu385=) c.772G= (p.Glu258=) c.259G= (p.Glu87=) | |
11 | g.2587594G>T | CA379134688 | KCNQ1 | c.796G>T (p.Glu266Ter) c.613G>T (p.Glu205Ter) c.1153G>T (p.Glu385Ter) c.772G>T (p.Glu258Ter) c.259G>T (p.Glu87Ter) | |
11 | g.2587595A>C | CA379134689 | KCNQ1 | c.797A>C (p.Glu266Ala) c.614A>C (p.Glu205Ala) c.1154A>C (p.Glu385Ala) c.773A>C (p.Glu258Ala) c.260A>C (p.Glu87Ala) | |
11 | g.2587595A>G | CA379134690 | KCNQ1 | c.797A>G (p.Glu266Gly) c.614A>G (p.Glu205Gly) c.1154A>G (p.Glu385Gly) c.773A>G (p.Glu258Gly) c.260A>G (p.Glu87Gly) | |
11 | g.2587595A>T | CA379134691 | KCNQ1 | c.797A>T (p.Glu266Val) c.614A>T (p.Glu205Val) c.1154A>T (p.Glu385Val) c.773A>T (p.Glu258Val) c.260A>T (p.Glu87Val) | |
11 | g.2587596G>A | CA472039062 | KCNQ1 | c.798G>A (p.Glu266=) c.615G>A (p.Glu205=) c.1155G>A (p.Glu385=) c.774G>A (p.Glu258=) c.261G>A (p.Glu87=) | |
11 | g.2587596G>C | CA379134692 | KCNQ1 | c.798G>C (p.Glu266Asp) c.615G>C (p.Glu205Asp) c.1155G>C (p.Glu385Asp) c.774G>C (p.Glu258Asp) c.261G>C (p.Glu87Asp) | |
11 | g.2587596G>T | CA379134693 | KCNQ1 | c.798G>T (p.Glu266Asp) c.615G>T (p.Glu205Asp) c.1155G>T (p.Glu385Asp) c.774G>T (p.Glu258Asp) c.261G>T (p.Glu87Asp) | |
11 | g.2587597A>C | CA379134694 | KCNQ1 | c.799A>C (p.Asn267His) c.616A>C (p.Asn206His) c.1156A>C (p.Asn386His) c.775A>C (p.Asn259His) c.262A>C (p.Asn88His) | |
11 | g.2587597A>G | CA379134695 | KCNQ1 | c.799A>G (p.Asn267Asp) c.616A>G (p.Asn206Asp) c.1156A>G (p.Asn386Asp) c.775A>G (p.Asn259Asp) c.262A>G (p.Asn88Asp) | |
11 | g.2587597A>T | CA379134696 | KCNQ1 | c.799A>T (p.Asn267Tyr) c.616A>T (p.Asn206Tyr) c.1156A>T (p.Asn386Tyr) c.775A>T (p.Asn259Tyr) c.262A>T (p.Asn88Tyr) | |
11 | g.2587598A>C | CA379134697 | KCNQ1 | c.800A>C (p.Asn267Thr) c.617A>C (p.Asn206Thr) c.1157A>C (p.Asn386Thr) c.776A>C (p.Asn259Thr) c.263A>C (p.Asn88Thr) | |
11 | g.2587598A>G | CA379134698 | KCNQ1 | c.800A>G (p.Asn267Ser) c.617A>G (p.Asn206Ser) c.1157A>G (p.Asn386Ser) c.776A>G (p.Asn259Ser) c.263A>G (p.Asn88Ser) | |
11 | g.2587598A>T | CA379134699 | KCNQ1 | c.800A>T (p.Asn267Ile) c.617A>T (p.Asn206Ile) c.1157A>T (p.Asn386Ile) c.776A>T (p.Asn259Ile) c.263A>T (p.Asn88Ile) | |
11 | g.2587599C>A | CA027462 | KCNQ1 | c.801C>A (p.Asn267Lys) c.618C>A (p.Asn206Lys) c.1158C>A (p.Asn386Lys) c.777C>A (p.Asn259Lys) c.264C>A (p.Asn88Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587599C= | CA1948233102 | KCNQ1 | c.801C= (p.Asn267=) c.618C= (p.Asn206=) c.1158C= (p.Asn386=) c.777C= (p.Asn259=) c.264C= (p.Asn88=) | |
11 | g.2587599C>G | CA379134700 | KCNQ1 | c.801C>G (p.Asn267Lys) c.618C>G (p.Asn206Lys) c.1158C>G (p.Asn386Lys) c.777C>G (p.Asn259Lys) c.264C>G (p.Asn88Lys) | |
11 | g.2587599C>T | CA027476 | KCNQ1 | c.801C>T (p.Asn267=) c.618C>T (p.Asn206=) c.1158C>T (p.Asn386=) c.777C>T (p.Asn259=) c.264C>T (p.Asn88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587600C>A | CA379134701 | KCNQ1 | c.802C>A (p.Pro268Thr) c.619C>A (p.Pro207Thr) c.1159C>A (p.Pro387Thr) c.778C>A (p.Pro260Thr) c.265C>A (p.Pro89Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587600C= | CA1948233112 | KCNQ1 | c.802C= (p.Pro268=) c.619C= (p.Pro207=) c.1159C= (p.Pro387=) c.778C= (p.Pro260=) c.265C= (p.Pro89=) | |
11 | g.2587600C>G | CA379134702 | KCNQ1 | c.802C>G (p.Pro268Ala) c.619C>G (p.Pro207Ala) c.1159C>G (p.Pro387Ala) c.778C>G (p.Pro260Ala) c.265C>G (p.Pro89Ala) | |
11 | g.2587600C>T | CA379134703 | KCNQ1 | c.802C>T (p.Pro268Ser) c.619C>T (p.Pro207Ser) c.1159C>T (p.Pro387Ser) c.778C>T (p.Pro260Ser) c.265C>T (p.Pro89Ser) | |
11 | g.2587601C>A | CA379134704 | KCNQ1 | c.803C>A (p.Pro268His) c.620C>A (p.Pro207His) c.1160C>A (p.Pro387His) c.779C>A (p.Pro260His) c.266C>A (p.Pro89His) | |
11 | g.2587601C= | CA1948233120 | KCNQ1 | c.803C= (p.Pro268=) c.620C= (p.Pro207=) c.1160C= (p.Pro387=) c.779C= (p.Pro260=) c.266C= (p.Pro89=) | |
11 | g.2587601C>G | CA379134705 | KCNQ1 | c.803C>G (p.Pro268Arg) c.620C>G (p.Pro207Arg) c.1160C>G (p.Pro387Arg) c.779C>G (p.Pro260Arg) c.266C>G (p.Pro89Arg) | |
11 | g.2587601C>T | CA379134706 | KCNQ1 | c.803C>T (p.Pro268Leu) c.620C>T (p.Pro207Leu) c.1160C>T (p.Pro387Leu) c.779C>T (p.Pro260Leu) c.266C>T (p.Pro89Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587602C>A | CA472039074 | KCNQ1 | c.804C>A (p.Pro268=) c.621C>A (p.Pro207=) c.1161C>A (p.Pro387=) c.780C>A (p.Pro260=) c.267C>A (p.Pro89=) | |
11 | g.2587602C= | CA1948233128 | KCNQ1 | c.804C= (p.Pro268=) c.621C= (p.Pro207=) c.1161C= (p.Pro387=) c.780C= (p.Pro260=) c.267C= (p.Pro89=) | |
11 | g.2587602C>G | CA472039075 | KCNQ1 | c.804C>G (p.Pro268=) c.621C>G (p.Pro207=) c.1161C>G (p.Pro387=) c.780C>G (p.Pro260=) c.267C>G (p.Pro89=) | |
11 | g.2587602C>T | CA027492 | KCNQ1 | c.804C>T (p.Pro268=) c.621C>T (p.Pro207=) c.1161C>T (p.Pro387=) c.780C>T (p.Pro260=) c.267C>T (p.Pro89=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587603G>A | CA027506 | KCNQ1 | c.805G>A (p.Asp269Asn) c.622G>A (p.Asp208Asn) c.1162G>A (p.Asp388Asn) c.781G>A (p.Asp261Asn) c.268G>A (p.Asp90Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587603G>C | CA027518 | KCNQ1 | c.805G>C (p.Asp269His) c.622G>C (p.Asp208His) c.1162G>C (p.Asp388His) c.781G>C (p.Asp261His) c.268G>C (p.Asp90His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587603G= | CA1948233142 | KCNQ1 | c.805G= (p.Asp269=) c.622G= (p.Asp208=) c.1162G= (p.Asp388=) c.781G= (p.Asp261=) c.268G= (p.Asp90=) | |
11 | g.2587603G>T | CA379134707 | KCNQ1 | c.805G>T (p.Asp269Tyr) c.622G>T (p.Asp208Tyr) c.1162G>T (p.Asp388Tyr) c.781G>T (p.Asp261Tyr) c.268G>T (p.Asp90Tyr) | |
11 | g.2587604A= | CA1948233150 | KCNQ1 | c.806A= (p.Asp269=) c.623A= (p.Asp208=) c.1163A= (p.Asp388=) c.782A= (p.Asp261=) c.269A= (p.Asp90=) | |
11 | g.2587604A>C | CA379134710 | KCNQ1 | c.806A>C (p.Asp269Ala) c.623A>C (p.Asp208Ala) c.1163A>C (p.Asp388Ala) c.782A>C (p.Asp261Ala) c.269A>C (p.Asp90Ala) | |
11 | g.2587604A>G | CA379134709 | KCNQ1 | c.806A>G (p.Asp269Gly) c.623A>G (p.Asp208Gly) c.1163A>G (p.Asp388Gly) c.782A>G (p.Asp261Gly) c.269A>G (p.Asp90Gly) | gnomAD v4 |
11 | g.2587604A>T | CA379134708 | KCNQ1 | c.806A>T (p.Asp269Val) c.623A>T (p.Asp208Val) c.1163A>T (p.Asp388Val) c.782A>T (p.Asp261Val) c.269A>T (p.Asp90Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587605C>A | CA379134711 | KCNQ1 | c.807C>A (p.Asp269Glu) c.624C>A (p.Asp208Glu) c.1164C>A (p.Asp388Glu) c.783C>A (p.Asp261Glu) c.270C>A (p.Asp90Glu) | |
11 | g.2587605C= | CA1948233160 | KCNQ1 | c.807C= (p.Asp269=) c.624C= (p.Asp208=) c.1164C= (p.Asp388=) c.783C= (p.Asp261=) c.270C= (p.Asp90=) | |
11 | g.2587605C>G | CA379134712 | KCNQ1 | c.807C>G (p.Asp269Glu) c.624C>G (p.Asp208Glu) c.1164C>G (p.Asp388Glu) c.783C>G (p.Asp261Glu) c.270C>G (p.Asp90Glu) | |
11 | g.2587605C>T | CA216332699 | KCNQ1 | c.807C>T (p.Asp269=) c.624C>T (p.Asp208=) c.1164C>T (p.Asp388=) c.783C>T (p.Asp261=) c.270C>T (p.Asp90=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2587609_2587611dup | CA16619311 | KCNQ1 | c.811_813dup (p.Ser271_Thr272insSer) c.628_630dup (p.Ser210_Thr211insSer) c.1168_1170dup (p.Ser390_Thr391insSer) c.787_789dup (p.Ser263_Thr264insSer) c.274_276dup (p.Ser92_Thr93insSer) | ClinVar dbSNP |
11 | g.2587606T>A | CA379134713 | KCNQ1 | c.808T>A (p.Ser270Thr) c.625T>A (p.Ser209Thr) c.1165T>A (p.Ser389Thr) c.784T>A (p.Ser262Thr) c.271T>A (p.Ser91Thr) | |
11 | g.2587606T>C | CA005423 | KCNQ1 | c.808T>C (p.Ser270Pro) c.625T>C (p.Ser209Pro) c.1165T>C (p.Ser389Pro) c.784T>C (p.Ser262Pro) c.271T>C (p.Ser91Pro) | ClinVar dbSNP |
11 | g.2587606T>G | CA379134714 | KCNQ1 | c.808T>G (p.Ser270Ala) c.625T>G (p.Ser209Ala) c.1165T>G (p.Ser389Ala) c.784T>G (p.Ser262Ala) c.271T>G (p.Ser91Ala) | ClinVar dbSNP |
11 | g.2587606T= | CA1948233175 | KCNQ1 | c.808T= (p.Ser270=) c.625T= (p.Ser209=) c.1165T= (p.Ser389=) c.784T= (p.Ser262=) c.271T= (p.Ser91=) | |
11 | g.2587606_2587607delinsGA | CA658797568 | KCNQ1 | c.808_809delinsGA (p.Ser270Asp) c.625_626delinsGA (p.Ser209Asp) c.1165_1166delinsGA (p.Ser389Asp) c.784_785delinsGA (p.Ser262Asp) c.271_272delinsGA (p.Ser91Asp) | ClinVar |
11 | g.2587607C>A | CA005431 | KCNQ1 | c.809C>A (p.Ser270Tyr) c.626C>A (p.Ser209Tyr) c.1166C>A (p.Ser389Tyr) c.785C>A (p.Ser262Tyr) c.272C>A (p.Ser91Tyr) | ClinVar dbSNP |
11 | g.2587607C= | CA1948233188 | KCNQ1 | c.809C= (p.Ser270=) c.626C= (p.Ser209=) c.1166C= (p.Ser389=) c.785C= (p.Ser262=) c.272C= (p.Ser91=) | |
11 | g.2587607C>G | CA379134715 | KCNQ1 | c.809C>G (p.Ser270Cys) c.626C>G (p.Ser209Cys) c.1166C>G (p.Ser389Cys) c.785C>G (p.Ser262Cys) c.272C>G (p.Ser91Cys) | |
11 | g.2587607C>T | CA379134716 | KCNQ1 | c.809C>T (p.Ser270Phe) c.626C>T (p.Ser209Phe) c.1166C>T (p.Ser389Phe) c.785C>T (p.Ser262Phe) c.272C>T (p.Ser91Phe) | ClinVar COSMIC COSMIC |
11 | g.2587608C>A | CA472039088 | KCNQ1 | c.810C>A (p.Ser270=) c.627C>A (p.Ser209=) c.1167C>A (p.Ser389=) c.786C>A (p.Ser262=) c.273C>A (p.Ser91=) | |
11 | g.2587608C= | CA1948233194 | KCNQ1 | c.810C= (p.Ser270=) c.627C= (p.Ser209=) c.1167C= (p.Ser389=) c.786C= (p.Ser262=) c.273C= (p.Ser91=) | |
11 | g.2587608C>G | CA472039090 | KCNQ1 | c.810C>G (p.Ser270=) c.627C>G (p.Ser209=) c.1167C>G (p.Ser389=) c.786C>G (p.Ser262=) c.273C>G (p.Ser91=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.2587608C>T | CA472039089 | KCNQ1 | c.810C>T (p.Ser270=) c.627C>T (p.Ser209=) c.1167C>T (p.Ser389=) c.786C>T (p.Ser262=) c.273C>T (p.Ser91=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.2587609T>A | CA379134717 | KCNQ1 | c.811T>A (p.Ser271Thr) c.628T>A (p.Ser210Thr) c.1168T>A (p.Ser390Thr) c.787T>A (p.Ser263Thr) c.274T>A (p.Ser92Thr) | |
11 | g.2587609T>C | CA379134718 | KCNQ1 | c.811T>C (p.Ser271Pro) c.628T>C (p.Ser210Pro) c.1168T>C (p.Ser390Pro) c.787T>C (p.Ser263Pro) c.274T>C (p.Ser92Pro) | |
11 | g.2587609T>G | CA379134719 | KCNQ1 | c.811T>G (p.Ser271Ala) c.628T>G (p.Ser210Ala) c.1168T>G (p.Ser390Ala) c.787T>G (p.Ser263Ala) c.274T>G (p.Ser92Ala) | |
11 | g.2587610C>A | CA379134722 | KCNQ1 | c.812C>A (p.Ser271Tyr) c.629C>A (p.Ser210Tyr) c.1169C>A (p.Ser390Tyr) c.788C>A (p.Ser263Tyr) c.275C>A (p.Ser92Tyr) | |
11 | g.2587610C= | CA1948233196 | KCNQ1 | c.812C= (p.Ser271=) c.629C= (p.Ser210=) c.1169C= (p.Ser390=) c.788C= (p.Ser263=) c.275C= (p.Ser92=) | |
11 | g.2587610C>G | CA379134720 | KCNQ1 | c.812C>G (p.Ser271Cys) c.629C>G (p.Ser210Cys) c.1169C>G (p.Ser390Cys) c.788C>G (p.Ser263Cys) c.275C>G (p.Ser92Cys) | dbSNP |
11 | g.2587610C>T | CA379134721 | KCNQ1 | c.812C>T (p.Ser271Phe) c.629C>T (p.Ser210Phe) c.1169C>T (p.Ser390Phe) c.788C>T (p.Ser263Phe) c.275C>T (p.Ser92Phe) | gnomAD v4 |
11 | g.2587612_2587614dup | CA658761337 | KCNQ1 | c.814_816dup (p.Thr272_Trp273insThr) c.631_633dup (p.Thr211_Trp212insThr) c.1171_1173dup (p.Thr391_Trp392insThr) c.790_792dup (p.Thr264_Trp265insThr) c.277_279dup (p.Thr93_Trp94insThr) | |
11 | g.2587611C>A | CA472039099 | KCNQ1 | c.813C>A (p.Ser271=) c.630C>A (p.Ser210=) c.1170C>A (p.Ser390=) c.789C>A (p.Ser263=) c.276C>A (p.Ser92=) | |
11 | g.2587611C>G | CA472039096 | KCNQ1 | c.813C>G (p.Ser271=) c.630C>G (p.Ser210=) c.1170C>G (p.Ser390=) c.789C>G (p.Ser263=) c.276C>G (p.Ser92=) | |
11 | g.2587611C>T | CA472039098 | KCNQ1 | c.813C>T (p.Ser271=) c.630C>T (p.Ser210=) c.1170C>T (p.Ser390=) c.789C>T (p.Ser263=) c.276C>T (p.Ser92=) | gnomAD v4 |
11 | g.2587612A= | CA1948233203 | KCNQ1 | c.814A= (p.Thr272=) c.631A= (p.Thr211=) c.1171A= (p.Thr391=) c.790A= (p.Thr264=) c.277A= (p.Thr93=) | |
11 | g.2587612A>C | CA379134723 | KCNQ1 | c.814A>C (p.Thr272Pro) c.631A>C (p.Thr211Pro) c.1171A>C (p.Thr391Pro) c.790A>C (p.Thr264Pro) c.277A>C (p.Thr93Pro) | ClinVar |
11 | g.2587612A>G | CA379134724 | KCNQ1 | c.814A>G (p.Thr272Ala) c.631A>G (p.Thr211Ala) c.1171A>G (p.Thr391Ala) c.790A>G (p.Thr264Ala) c.277A>G (p.Thr93Ala) | dbSNP gnomAD v2 |
11 | g.2587612A>T | CA379134725 | KCNQ1 | c.814A>T (p.Thr272Ser) c.631A>T (p.Thr211Ser) c.1171A>T (p.Thr391Ser) c.790A>T (p.Thr264Ser) c.277A>T (p.Thr93Ser) | |
11 | g.2587613C>A | CA379134726 | KCNQ1 | c.815C>A (p.Thr272Asn) c.632C>A (p.Thr211Asn) c.1172C>A (p.Thr391Asn) c.791C>A (p.Thr264Asn) c.278C>A (p.Thr93Asn) | |
11 | g.2587613C= | CA1948233208 | KCNQ1 | c.815C= (p.Thr272=) c.632C= (p.Thr211=) c.1172C= (p.Thr391=) c.791C= (p.Thr264=) c.278C= (p.Thr93=) | |
11 | g.2587613C>G | CA379134727 | KCNQ1 | c.815C>G (p.Thr272Ser) c.632C>G (p.Thr211Ser) c.1172C>G (p.Thr391Ser) c.791C>G (p.Thr264Ser) c.278C>G (p.Thr93Ser) | |
11 | g.2587613C>T | CA005438 | KCNQ1 | c.815C>T (p.Thr272Ile) c.632C>T (p.Thr211Ile) c.1172C>T (p.Thr391Ile) c.791C>T (p.Thr264Ile) c.278C>T (p.Thr93Ile) | ClinVar dbSNP |
11 | g.2587614C>A | CA472039102 | KCNQ1 | c.816C>A (p.Thr272=) c.633C>A (p.Thr211=) c.1173C>A (p.Thr391=) c.792C>A (p.Thr264=) c.279C>A (p.Thr93=) | |
11 | g.2587614C= | CA1948233219 | KCNQ1 | c.816C= (p.Thr272=) c.633C= (p.Thr211=) c.1173C= (p.Thr391=) c.792C= (p.Thr264=) c.279C= (p.Thr93=) | |
11 | g.2587614C>G | CA472039104 | KCNQ1 | c.816C>G (p.Thr272=) c.633C>G (p.Thr211=) c.1173C>G (p.Thr391=) c.792C>G (p.Thr264=) c.279C>G (p.Thr93=) | |
11 | g.2587614C>T | CA027533 | KCNQ1 | c.816C>T (p.Thr272=) c.633C>T (p.Thr211=) c.1173C>T (p.Thr391=) c.792C>T (p.Thr264=) c.279C>T (p.Thr93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2587615T>A | CA379134728 | KCNQ1 | c.817T>A (p.Trp273Arg) c.634T>A (p.Trp212Arg) c.1174T>A (p.Trp392Arg) c.793T>A (p.Trp265Arg) c.280T>A (p.Trp94Arg) | |
11 | g.2587615T>C | CA005449 | KCNQ1 | c.817T>C (p.Trp273Arg) c.634T>C (p.Trp212Arg) c.1174T>C (p.Trp392Arg) c.793T>C (p.Trp265Arg) c.280T>C (p.Trp94Arg) | ClinVar dbSNP |
11 | g.2587615T>G | CA379134729 | KCNQ1 | c.817T>G (p.Trp273Gly) c.634T>G (p.Trp212Gly) c.1174T>G (p.Trp392Gly) c.793T>G (p.Trp265Gly) c.280T>G (p.Trp94Gly) | |
11 | g.2587615T= | CA1948233234 | KCNQ1 | c.817T= (p.Trp273=) c.634T= (p.Trp212=) c.1174T= (p.Trp392=) c.793T= (p.Trp265=) c.280T= (p.Trp94=) | |
11 | g.2587615_2587617dup | CA005455 | KCNQ1 | c.817_819dup (p.Trp273_Lys274insTrp) c.634_636dup (p.Trp212_Lys213insTrp) c.1174_1176dup (p.Trp392_Lys393insTrp) c.793_795dup (p.Trp265_Lys266insTrp) c.280_282dup (p.Trp94_Lys95insTrp) | ClinVar dbSNP gnomAD v4 |
11 | g.2587616G>A | CA16613564 | KCNQ1 | c.818G>A (p.Trp273Ter) c.635G>A (p.Trp212Ter) c.1175G>A (p.Trp392Ter) c.794G>A (p.Trp265Ter) c.281G>A (p.Trp94Ter) | ClinVar dbSNP |
11 | g.2587616G>C | CA379134731 | KCNQ1 | c.818G>C (p.Trp273Ser) c.635G>C (p.Trp212Ser) c.1175G>C (p.Trp392Ser) c.794G>C (p.Trp265Ser) c.281G>C (p.Trp94Ser) | |
11 | g.2587616G= | CA1948233241 | KCNQ1 | c.818G= (p.Trp273=) c.635G= (p.Trp212=) c.1175G= (p.Trp392=) c.794G= (p.Trp265=) c.281G= (p.Trp94=) | |
11 | g.2587616G>T | CA379134730 | KCNQ1 | c.818G>T (p.Trp273Leu) c.635G>T (p.Trp212Leu) c.1175G>T (p.Trp392Leu) c.794G>T (p.Trp265Leu) c.281G>T (p.Trp94Leu) | |
11 | g.2587617G>A | CA005462 | KCNQ1 | c.819G>A (p.Trp273Ter) c.636G>A (p.Trp212Ter) c.1176G>A (p.Trp392Ter) c.795G>A (p.Trp265Ter) c.282G>A (p.Trp94Ter) | ClinVar dbSNP |
11 | g.2587617G>C | CA379134732 | KCNQ1 | c.819G>C (p.Trp273Cys) c.636G>C (p.Trp212Cys) c.1176G>C (p.Trp392Cys) c.795G>C (p.Trp265Cys) c.282G>C (p.Trp94Cys) | |
11 | g.2587617G= | CA1948233244 | KCNQ1 | c.819G= (p.Trp273=) c.636G= (p.Trp212=) c.1176G= (p.Trp392=) c.795G= (p.Trp265=) c.282G= (p.Trp94=) | |
11 | g.2587617G>T | CA379134733 | KCNQ1 | c.819G>T (p.Trp273Cys) c.636G>T (p.Trp212Cys) c.1176G>T (p.Trp392Cys) c.795G>T (p.Trp265Cys) c.282G>T (p.Trp94Cys) | |
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.2587618A= | CA1948233256 | KCNQ1 | c.820A= (p.Lys274=) c.637A= (p.Lys213=) c.1177A= (p.Lys393=) c.796A= (p.Lys266=) c.283A= (p.Lys95=) | |
11 | g.2587618A>C | CA379134734 | KCNQ1 | c.820A>C (p.Lys274Gln) c.637A>C (p.Lys213Gln) c.1177A>C (p.Lys393Gln) c.796A>C (p.Lys266Gln) c.283A>C (p.Lys95Gln) | |
11 | g.2587618A>G | CA379134735 | KCNQ1 | c.820A>G (p.Lys274Glu) c.637A>G (p.Lys213Glu) c.1177A>G (p.Lys393Glu) c.796A>G (p.Lys266Glu) c.283A>G (p.Lys95Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.2587618A>T | CA379134736 | KCNQ1 | c.820A>T (p.Lys274Ter) c.637A>T (p.Lys213Ter) c.1177A>T (p.Lys393Ter) c.796A>T (p.Lys266Ter) c.283A>T (p.Lys95Ter) | |
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=) | |
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.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=) |