| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2778023C>A | CA472465634 | KCNQ1 | c.1423C>A (p.Arg475=) c.1240C>A (p.Arg414=) c.1780C>A (p.Arg594=) c.1399C>A (p.Arg467=) c.184C>A (p.Arg62=) c.886C>A (p.Arg296=) n.287C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.2778023C= | CA1948315120 | KCNQ1 | c.1423C= (p.Arg475=) c.1240C= (p.Arg414=) c.1780C= (p.Arg594=) c.1399C= (p.Arg467=) c.184C= (p.Arg62=) c.886C= (p.Arg296=) n.287C= | |
| 11 | g.2778023C>G | CA379139772 | KCNQ1 | c.1423C>G (p.Arg475Gly) c.1240C>G (p.Arg414Gly) c.1780C>G (p.Arg594Gly) c.1399C>G (p.Arg467Gly) c.184C>G (p.Arg62Gly) c.886C>G (p.Arg296Gly) n.287C>G | |
| 11 | g.2778023C>T | CA006380 | KCNQ1 | c.1423C>T (p.Arg475Ter) c.1240C>T (p.Arg414Ter) c.1780C>T (p.Arg594Ter) c.1399C>T (p.Arg467Ter) c.184C>T (p.Arg62Ter) c.886C>T (p.Arg296Ter) n.287C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.2778024G>A | CA006388 | KCNQ1 | c.1424G>A (p.Arg475Gln) c.1241G>A (p.Arg414Gln) c.1781G>A (p.Arg594Gln) c.1400G>A (p.Arg467Gln) c.185G>A (p.Arg62Gln) c.887G>A (p.Arg296Gln) n.288G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2778024G>C | CA006395 | KCNQ1 | c.1424G>C (p.Arg475Pro) c.1241G>C (p.Arg414Pro) c.1781G>C (p.Arg594Pro) c.1400G>C (p.Arg467Pro) c.185G>C (p.Arg62Pro) c.887G>C (p.Arg296Pro) n.288G>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.2778024G= | CA1948315121 | KCNQ1 | c.1424G= (p.Arg475=) c.1241G= (p.Arg414=) c.1781G= (p.Arg594=) c.1400G= (p.Arg467=) c.185G= (p.Arg62=) c.887G= (p.Arg296=) n.288G= | |
| 11 | g.2778024G>T | CA379139775 | KCNQ1 | c.1424G>T (p.Arg475Leu) c.1241G>T (p.Arg414Leu) c.1781G>T (p.Arg594Leu) c.1400G>T (p.Arg467Leu) c.185G>T (p.Arg62Leu) c.887G>T (p.Arg296Leu) n.288G>T | ClinVar |
| 11 | g.2778025A>C | CA472465637 | KCNQ1 | c.1425A>C (p.Arg475=) c.1242A>C (p.Arg414=) c.1782A>C (p.Arg594=) c.1401A>C (p.Arg467=) c.186A>C (p.Arg62=) c.888A>C (p.Arg296=) n.289A>C | |
| 11 | g.2778025A>G | CA472465639 | KCNQ1 | c.1425A>G (p.Arg475=) c.1242A>G (p.Arg414=) c.1782A>G (p.Arg594=) c.1401A>G (p.Arg467=) c.186A>G (p.Arg62=) c.888A>G (p.Arg296=) n.289A>G | |
| 11 | g.2778025A>T | CA472465641 | KCNQ1 | c.1425A>T (p.Arg475=) c.1242A>T (p.Arg414=) c.1782A>T (p.Arg594=) c.1401A>T (p.Arg467=) c.186A>T (p.Arg62=) c.888A>T (p.Arg296=) n.289A>T | |
| 11 | g.2778025_2778026delinsAG | CA1948315122 | KCNQ1 | c.1425_1426delinsAG (p.Arg475=) c.1242_1243delinsAG (p.Arg414=) c.1782_1783delinsAG (p.Arg594=) c.1401_1402delinsAG (p.Arg467=) c.186_187delinsAG (p.Arg62=) c.888_889delinsAG (p.Arg296=) n.289_290delinsAG | |
| 11 | g.2778027_2778029del | CA2695213090 | KCNQ1 | c.1427_1429del (p.Val476del) c.1244_1246del (p.Val415del) c.1784_1786del (p.Val595del) c.1403_1405del (p.Val468del) c.188_190del (p.Val63del) c.890_892del (p.Val297del) n.291_293del | |
| 11 | g.2778026del | CA032751 | KCNQ1 | c.1426del (p.Val476Ter) c.1243del (p.Val415Ter) c.1783del (p.Val595Ter) c.1402del (p.Val468Ter) c.187del (p.Val63Ter) c.889del (p.Val297Ter) n.290del | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.2778026G>A | CA379139779 | KCNQ1 | c.1426G>A (p.Val476Ile) c.1243G>A (p.Val415Ile) c.1783G>A (p.Val595Ile) c.1402G>A (p.Val468Ile) c.187G>A (p.Val63Ile) c.889G>A (p.Val297Ile) n.290G>A | ClinVar gnomAD v4 |
| 11 | g.2778026G>C | CA379139780 | KCNQ1 | c.1426G>C (p.Val476Leu) c.1243G>C (p.Val415Leu) c.1783G>C (p.Val595Leu) c.1402G>C (p.Val468Leu) c.187G>C (p.Val63Leu) c.889G>C (p.Val297Leu) n.290G>C | |
| 11 | g.2778026G= | CA1948315123 | KCNQ1 | c.1426G= (p.Val476=) c.1243G= (p.Val415=) c.1783G= (p.Val595=) c.1402G= (p.Val468=) c.187G= (p.Val63=) c.889G= (p.Val297=) n.290G= | |
| 11 | g.2778026G>T | CA032779 | KCNQ1 | c.1426G>T (p.Val476Leu) c.1243G>T (p.Val415Leu) c.1783G>T (p.Val595Leu) c.1402G>T (p.Val468Leu) c.187G>T (p.Val63Leu) c.889G>T (p.Val297Leu) n.290G>T | ClinVar dbSNP ExAC gnomAD v2 |
| 11 | g.2778027T>A | CA379139781 | KCNQ1 | c.1427T>A (p.Val476Glu) c.1244T>A (p.Val415Glu) c.1784T>A (p.Val595Glu) c.1403T>A (p.Val468Glu) c.188T>A (p.Val63Glu) c.890T>A (p.Val297Glu) n.291T>A | |
| 11 | g.2778027T>C | CA379139783 | KCNQ1 | c.1427T>C (p.Val476Ala) c.1244T>C (p.Val415Ala) c.1784T>C (p.Val595Ala) c.1403T>C (p.Val468Ala) c.188T>C (p.Val63Ala) c.890T>C (p.Val297Ala) n.291T>C | |
| 11 | g.2778027T>G | CA379139784 | KCNQ1 | c.1427T>G (p.Val476Gly) c.1244T>G (p.Val415Gly) c.1784T>G (p.Val595Gly) c.1403T>G (p.Val468Gly) c.188T>G (p.Val63Gly) c.890T>G (p.Val297Gly) n.291T>G | |
| 11 | g.2778028A= | CA1948315124 | KCNQ1 | c.1428A= (p.Val476=) c.1245A= (p.Val415=) c.1785A= (p.Val595=) c.1404A= (p.Val468=) c.189A= (p.Val63=) c.891A= (p.Val297=) n.292A= | |
| 11 | g.2778028A>C | CA472465647 | KCNQ1 | c.1428A>C (p.Val476=) c.1245A>C (p.Val415=) c.1785A>C (p.Val595=) c.1404A>C (p.Val468=) c.189A>C (p.Val63=) c.891A>C (p.Val297=) n.292A>C | |
| 11 | g.2778028A>G | CA216322012 | KCNQ1 | c.1428A>G (p.Val476=) c.1245A>G (p.Val415=) c.1785A>G (p.Val595=) c.1404A>G (p.Val468=) c.189A>G (p.Val63=) c.891A>G (p.Val297=) n.292A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2778028A>T | CA472465648 | KCNQ1 | c.1428A>T (p.Val476=) c.1245A>T (p.Val415=) c.1785A>T (p.Val595=) c.1404A>T (p.Val468=) c.189A>T (p.Val63=) c.891A>T (p.Val297=) n.292A>T | |
| 11 | g.2778031_2778033del | CA2580615606 | KCNQ1 | c.1431_1433del (p.Glu477del) c.1248_1250del (p.Glu416del) c.1788_1790del (p.Glu596del) c.1407_1409del (p.Glu469del) c.192_194del (p.Glu64del) c.894_896del (p.Glu298del) n.295_297del | ClinVar |
| 11 | g.2778029G>A | CA006401 | KCNQ1 | c.1429G>A (p.Glu477Lys) c.1246G>A (p.Glu416Lys) c.1786G>A (p.Glu596Lys) c.1405G>A (p.Glu469Lys) c.190G>A (p.Glu64Lys) c.892G>A (p.Glu298Lys) n.293G>A | ClinVar dbSNP |
| 11 | g.2778029G>C | CA379139787 | KCNQ1 | c.1429G>C (p.Glu477Gln) c.1246G>C (p.Glu416Gln) c.1786G>C (p.Glu596Gln) c.1405G>C (p.Glu469Gln) c.190G>C (p.Glu64Gln) c.892G>C (p.Glu298Gln) n.293G>C | |
| 11 | g.2778029G= | CA1948315125 | KCNQ1 | c.1429G= (p.Glu477=) c.1246G= (p.Glu416=) c.1786G= (p.Glu596=) c.1405G= (p.Glu469=) c.190G= (p.Glu64=) c.892G= (p.Glu298=) n.293G= | |
| 11 | g.2778029G>T | CA379139789 | KCNQ1 | c.1429G>T (p.Glu477Ter) c.1246G>T (p.Glu416Ter) c.1786G>T (p.Glu596Ter) c.1405G>T (p.Glu469Ter) c.190G>T (p.Glu64Ter) c.892G>T (p.Glu298Ter) n.293G>T | gnomAD v4 |
| 11 | g.2778030A= | CA1948315126 | KCNQ1 | c.1430A= (p.Glu477=) c.1247A= (p.Glu416=) c.1787A= (p.Glu596=) c.1406A= (p.Glu469=) c.191A= (p.Glu64=) c.893A= (p.Glu298=) n.294A= | |
| 11 | g.2778030A>C | CA379139791 | KCNQ1 | c.1430A>C (p.Glu477Ala) c.1247A>C (p.Glu416Ala) c.1787A>C (p.Glu596Ala) c.1406A>C (p.Glu469Ala) c.191A>C (p.Glu64Ala) c.893A>C (p.Glu298Ala) n.294A>C | |
| 11 | g.2778030A>G | CA006408 | KCNQ1 | c.1430A>G (p.Glu477Gly) c.1247A>G (p.Glu416Gly) c.1787A>G (p.Glu596Gly) c.1406A>G (p.Glu469Gly) c.191A>G (p.Glu64Gly) c.893A>G (p.Glu298Gly) n.294A>G | ClinVar dbSNP |
| 11 | g.2778030A>T | CA379139794 | KCNQ1 | c.1430A>T (p.Glu477Val) c.1247A>T (p.Glu416Val) c.1787A>T (p.Glu596Val) c.1406A>T (p.Glu469Val) c.191A>T (p.Glu64Val) c.893A>T (p.Glu298Val) n.294A>T | |
| 11 | g.2778031A= | CA1948315127 | KCNQ1 | c.1431A= (p.Glu477=) c.1248A= (p.Glu416=) c.1788A= (p.Glu596=) c.1407A= (p.Glu469=) c.192A= (p.Glu64=) c.894A= (p.Glu298=) n.295A= | |
| 11 | g.2778031A>C | CA379139799 | KCNQ1 | c.1431A>C (p.Glu477Asp) c.1248A>C (p.Glu416Asp) c.1788A>C (p.Glu596Asp) c.1407A>C (p.Glu469Asp) c.192A>C (p.Glu64Asp) c.894A>C (p.Glu298Asp) n.295A>C | |
| 11 | g.2778031A>G | CA032800 | KCNQ1 | c.1431A>G (p.Glu477=) c.1248A>G (p.Glu416=) c.1788A>G (p.Glu596=) c.1407A>G (p.Glu469=) c.192A>G (p.Glu64=) c.894A>G (p.Glu298=) n.295A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2778031A>T | CA379139797 | KCNQ1 | c.1431A>T (p.Glu477Asp) c.1248A>T (p.Glu416Asp) c.1788A>T (p.Glu596Asp) c.1407A>T (p.Glu469Asp) c.192A>T (p.Glu64Asp) c.894A>T (p.Glu298Asp) n.295A>T | |
| 11 | g.2778032G>A | CA379139801 | KCNQ1 | c.1432G>A (p.Asp478Asn) c.1249G>A (p.Asp417Asn) c.1789G>A (p.Asp597Asn) c.1408G>A (p.Asp470Asn) c.193G>A (p.Asp65Asn) c.895G>A (p.Asp299Asn) n.296G>A | |
| 11 | g.2778032G>C | CA379139803 | KCNQ1 | c.1432G>C (p.Asp478His) c.1249G>C (p.Asp417His) c.1789G>C (p.Asp597His) c.1408G>C (p.Asp470His) c.193G>C (p.Asp65His) c.895G>C (p.Asp299His) n.296G>C | |
| 11 | g.2778032G>T | CA379139804 | KCNQ1 | c.1432G>T (p.Asp478Tyr) c.1249G>T (p.Asp417Tyr) c.1789G>T (p.Asp597Tyr) c.1408G>T (p.Asp470Tyr) c.193G>T (p.Asp65Tyr) c.895G>T (p.Asp299Tyr) n.296G>T | |
| 11 | g.2778033A>C | CA379139807 | KCNQ1 | c.1433A>C (p.Asp478Ala) c.1250A>C (p.Asp417Ala) c.1790A>C (p.Asp597Ala) c.1409A>C (p.Asp470Ala) c.194A>C (p.Asp65Ala) c.896A>C (p.Asp299Ala) n.297A>C | |
| 11 | g.2778033A>G | CA379139809 | KCNQ1 | c.1433A>G (p.Asp478Gly) c.1250A>G (p.Asp417Gly) c.1790A>G (p.Asp597Gly) c.1409A>G (p.Asp470Gly) c.194A>G (p.Asp65Gly) c.896A>G (p.Asp299Gly) n.297A>G | |
| 11 | g.2778033A>T | CA379139810 | KCNQ1 | c.1433A>T (p.Asp478Val) c.1250A>T (p.Asp417Val) c.1790A>T (p.Asp597Val) c.1409A>T (p.Asp470Val) c.194A>T (p.Asp65Val) c.896A>T (p.Asp299Val) n.297A>T | |
| 11 | g.2778034C>A | CA379139812 | KCNQ1 | c.1434C>A (p.Asp478Glu) c.1251C>A (p.Asp417Glu) c.1791C>A (p.Asp597Glu) c.1410C>A (p.Asp470Glu) c.195C>A (p.Asp65Glu) c.897C>A (p.Asp299Glu) n.298C>A | |
| 11 | g.2778034C>G | CA379139814 | KCNQ1 | c.1434C>G (p.Asp478Glu) c.1251C>G (p.Asp417Glu) c.1791C>G (p.Asp597Glu) c.1410C>G (p.Asp470Glu) c.195C>G (p.Asp65Glu) c.897C>G (p.Asp299Glu) n.298C>G | |
| 11 | g.2778034C>T | CA472465661 | KCNQ1 | c.1434C>T (p.Asp478=) c.1251C>T (p.Asp417=) c.1791C>T (p.Asp597=) c.1410C>T (p.Asp470=) c.195C>T (p.Asp65=) c.897C>T (p.Asp299=) n.298C>T | |
| 11 | g.2778035A>C | CA379139816 | KCNQ1 | c.1435A>C (p.Lys479Gln) c.1252A>C (p.Lys418Gln) c.1792A>C (p.Lys598Gln) c.1411A>C (p.Lys471Gln) c.196A>C (p.Lys66Gln) c.898A>C (p.Lys300Gln) n.299A>C | COSMIC COSMIC |
| 11 | g.2778035A>G | CA379139817 | KCNQ1 | c.1435A>G (p.Lys479Glu) c.1252A>G (p.Lys418Glu) c.1792A>G (p.Lys598Glu) c.1411A>G (p.Lys471Glu) c.196A>G (p.Lys66Glu) c.898A>G (p.Lys300Glu) n.299A>G | |
| 11 | g.2778035A>T | CA379139818 | KCNQ1 | c.1435A>T (p.Lys479Ter) c.1252A>T (p.Lys418Ter) c.1792A>T (p.Lys598Ter) c.1411A>T (p.Lys471Ter) c.196A>T (p.Lys66Ter) c.898A>T (p.Lys300Ter) n.299A>T |