Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63414909A>CCA409646063KCNQ2c.1465T>G (p.Ser489Ala)
c.1519T>G (p.Ser507Ala)
c.916T>G (p.Ser306Ala)
c.1429T>G (p.Ser477Ala)
c.1087T>G (p.Ser363Ala)
c.1435T>G (p.Ser479Ala)
c.1399T>G (p.Ser467Ala)
c.579T>G
c.127T>G (p.Ser43Ala)
c.1489T>G (p.Ser497Ala)
c.1393T>G (p.Ser465Ala)
c.1000T>G (p.Ser334Ala)
c.1396T>G (p.Ser466Ala)
c.427T>G (p.Ser143Ala)
20g.63414909A>GCA409646065KCNQ2c.1465T>C (p.Ser489Pro)
c.1519T>C (p.Ser507Pro)
c.916T>C (p.Ser306Pro)
c.1429T>C (p.Ser477Pro)
c.1087T>C (p.Ser363Pro)
c.1435T>C (p.Ser479Pro)
c.1399T>C (p.Ser467Pro)
c.579T>C
c.127T>C (p.Ser43Pro)
c.1489T>C (p.Ser497Pro)
c.1393T>C (p.Ser465Pro)
c.1000T>C (p.Ser334Pro)
c.1396T>C (p.Ser466Pro)
c.427T>C (p.Ser143Pro)
20g.63414909A>TCA409646068KCNQ2c.1465T>A (p.Ser489Thr)
c.1519T>A (p.Ser507Thr)
c.916T>A (p.Ser306Thr)
c.1429T>A (p.Ser477Thr)
c.1087T>A (p.Ser363Thr)
c.1435T>A (p.Ser479Thr)
c.1399T>A (p.Ser467Thr)
c.579T>A
c.127T>A (p.Ser43Thr)
c.1489T>A (p.Ser497Thr)
c.1393T>A (p.Ser465Thr)
c.1000T>A (p.Ser334Thr)
c.1396T>A (p.Ser466Thr)
c.427T>A (p.Ser143Thr)
20g.63414910G>ACA511339609KCNQ2c.1464C>T (p.Asn488=)
c.1518C>T (p.Asn506=)
c.915C>T (p.Asn305=)
c.1428C>T (p.Asn476=)
c.1086C>T (p.Asn362=)
c.1434C>T (p.Asn478=)
c.1398C>T (p.Asn466=)
c.578C>T
c.126C>T (p.Asn42=)
c.1488C>T (p.Asn496=)
c.1392C>T (p.Asn464=)
c.999C>T (p.Asn333=)
c.1395C>T (p.Asn465=)
c.426C>T (p.Asn142=)
gnomAD v4
20g.63414910G>CCA409646071KCNQ2c.1464C>G (p.Asn488Lys)
c.1518C>G (p.Asn506Lys)
c.915C>G (p.Asn305Lys)
c.1428C>G (p.Asn476Lys)
c.1086C>G (p.Asn362Lys)
c.1434C>G (p.Asn478Lys)
c.1398C>G (p.Asn466Lys)
c.578C>G
c.126C>G (p.Asn42Lys)
c.1488C>G (p.Asn496Lys)
c.1392C>G (p.Asn464Lys)
c.999C>G (p.Asn333Lys)
c.1395C>G (p.Asn465Lys)
c.426C>G (p.Asn142Lys)
20g.63414910G>TCA409646075KCNQ2c.1464C>A (p.Asn488Lys)
c.1518C>A (p.Asn506Lys)
c.915C>A (p.Asn305Lys)
c.1428C>A (p.Asn476Lys)
c.1086C>A (p.Asn362Lys)
c.1434C>A (p.Asn478Lys)
c.1398C>A (p.Asn466Lys)
c.578C>A
c.126C>A (p.Asn42Lys)
c.1488C>A (p.Asn496Lys)
c.1392C>A (p.Asn464Lys)
c.999C>A (p.Asn333Lys)
c.1395C>A (p.Asn465Lys)
c.426C>A (p.Asn142Lys)
20g.63414911T>ACA409646078KCNQ2c.1463A>T (p.Asn488Ile)
c.1517A>T (p.Asn506Ile)
c.914A>T (p.Asn305Ile)
c.1427A>T (p.Asn476Ile)
c.1085A>T (p.Asn362Ile)
c.1433A>T (p.Asn478Ile)
c.1397A>T (p.Asn466Ile)
c.577A>T
c.125A>T (p.Asn42Ile)
c.1487A>T (p.Asn496Ile)
c.1391A>T (p.Asn464Ile)
c.998A>T (p.Asn333Ile)
c.1394A>T (p.Asn465Ile)
c.425A>T (p.Asn142Ile)
20g.63414911T>CCA409646079KCNQ2c.1463A>G (p.Asn488Ser)
c.1517A>G (p.Asn506Ser)
c.914A>G (p.Asn305Ser)
c.1427A>G (p.Asn476Ser)
c.1085A>G (p.Asn362Ser)
c.1433A>G (p.Asn478Ser)
c.1397A>G (p.Asn466Ser)
c.577A>G
c.125A>G (p.Asn42Ser)
c.1487A>G (p.Asn496Ser)
c.1391A>G (p.Asn464Ser)
c.998A>G (p.Asn333Ser)
c.1394A>G (p.Asn465Ser)
c.425A>G (p.Asn142Ser)
dbSNP gnomAD v2 gnomAD v4
20g.63414911T>GCA409646080KCNQ2c.1463A>C (p.Asn488Thr)
c.1517A>C (p.Asn506Thr)
c.914A>C (p.Asn305Thr)
c.1427A>C (p.Asn476Thr)
c.1085A>C (p.Asn362Thr)
c.1433A>C (p.Asn478Thr)
c.1397A>C (p.Asn466Thr)
c.577A>C
c.125A>C (p.Asn42Thr)
c.1487A>C (p.Asn496Thr)
c.1391A>C (p.Asn464Thr)
c.998A>C (p.Asn333Thr)
c.1394A>C (p.Asn465Thr)
c.425A>C (p.Asn142Thr)
20g.63414911T=CA2374778758KCNQ2c.1463A= (p.Asn488=)
c.1517A= (p.Asn506=)
c.914A= (p.Asn305=)
c.1427A= (p.Asn476=)
c.1085A= (p.Asn362=)
c.1433A= (p.Asn478=)
c.1397A= (p.Asn466=)
c.577A=
c.125A= (p.Asn42=)
c.1487A= (p.Asn496=)
c.1391A= (p.Asn464=)
c.998A= (p.Asn333=)
c.1394A= (p.Asn465=)
c.425A= (p.Asn142=)
20g.63414912T>ACA9958442KCNQ2c.1462A>T (p.Asn488Tyr)
c.1516A>T (p.Asn506Tyr)
c.913A>T (p.Asn305Tyr)
c.1426A>T (p.Asn476Tyr)
c.1084A>T (p.Asn362Tyr)
c.1432A>T (p.Asn478Tyr)
c.1396A>T (p.Asn466Tyr)
c.576A>T
c.124A>T (p.Asn42Tyr)
c.1486A>T (p.Asn496Tyr)
c.1390A>T (p.Asn464Tyr)
c.997A>T (p.Asn333Tyr)
c.1393A>T (p.Asn465Tyr)
c.424A>T (p.Asn142Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.63414912T>CCA409646084KCNQ2c.1462A>G (p.Asn488Asp)
c.1516A>G (p.Asn506Asp)
c.913A>G (p.Asn305Asp)
c.1426A>G (p.Asn476Asp)
c.1084A>G (p.Asn362Asp)
c.1432A>G (p.Asn478Asp)
c.1396A>G (p.Asn466Asp)
c.576A>G
c.124A>G (p.Asn42Asp)
c.1486A>G (p.Asn496Asp)
c.1390A>G (p.Asn464Asp)
c.997A>G (p.Asn333Asp)
c.1393A>G (p.Asn465Asp)
c.424A>G (p.Asn142Asp)
20g.63414912T>GCA409646087KCNQ2c.1462A>C (p.Asn488His)
c.1516A>C (p.Asn506His)
c.913A>C (p.Asn305His)
c.1426A>C (p.Asn476His)
c.1084A>C (p.Asn362His)
c.1432A>C (p.Asn478His)
c.1396A>C (p.Asn466His)
c.576A>C
c.124A>C (p.Asn42His)
c.1486A>C (p.Asn496His)
c.1390A>C (p.Asn464His)
c.997A>C (p.Asn333His)
c.1393A>C (p.Asn465His)
c.424A>C (p.Asn142His)
dbSNP gnomAD v2 gnomAD v4
20g.63414912T=CA2374778759KCNQ2c.1462A= (p.Asn488=)
c.1516A= (p.Asn506=)
c.913A= (p.Asn305=)
c.1426A= (p.Asn476=)
c.1084A= (p.Asn362=)
c.1432A= (p.Asn478=)
c.1396A= (p.Asn466=)
c.576A=
c.124A= (p.Asn42=)
c.1486A= (p.Asn496=)
c.1390A= (p.Asn464=)
c.997A= (p.Asn333=)
c.1393A= (p.Asn465=)
c.424A= (p.Asn142=)
20g.63414913C>ACA409646090KCNQ2c.1461G>T (p.Gln487His)
c.1515G>T (p.Gln505His)
c.912G>T (p.Gln304His)
c.1425G>T (p.Gln475His)
c.1083G>T (p.Gln361His)
c.1431G>T (p.Gln477His)
c.1395G>T (p.Gln465His)
c.575G>T
c.123G>T (p.Gln41His)
c.1485G>T (p.Gln495His)
c.1389G>T (p.Gln463His)
c.996G>T (p.Gln332His)
c.1392G>T (p.Gln464His)
c.423G>T (p.Gln141His)
20g.63414913C>GCA409646093KCNQ2c.1461G>C (p.Gln487His)
c.1515G>C (p.Gln505His)
c.912G>C (p.Gln304His)
c.1425G>C (p.Gln475His)
c.1083G>C (p.Gln361His)
c.1431G>C (p.Gln477His)
c.1395G>C (p.Gln465His)
c.575G>C
c.123G>C (p.Gln41His)
c.1485G>C (p.Gln495His)
c.1389G>C (p.Gln463His)
c.996G>C (p.Gln332His)
c.1392G>C (p.Gln464His)
c.423G>C (p.Gln141His)
20g.63414913C>TCA511339615KCNQ2c.1461G>A (p.Gln487=)
c.1515G>A (p.Gln505=)
c.912G>A (p.Gln304=)
c.1425G>A (p.Gln475=)
c.1083G>A (p.Gln361=)
c.1431G>A (p.Gln477=)
c.1395G>A (p.Gln465=)
c.575G>A
c.123G>A (p.Gln41=)
c.1485G>A (p.Gln495=)
c.1389G>A (p.Gln463=)
c.996G>A (p.Gln332=)
c.1392G>A (p.Gln464=)
c.423G>A (p.Gln141=)
gnomAD v4
20g.63414914T>ACA409646096KCNQ2c.1460A>T (p.Gln487Leu)
c.1514A>T (p.Gln505Leu)
c.911A>T (p.Gln304Leu)
c.1424A>T (p.Gln475Leu)
c.1082A>T (p.Gln361Leu)
c.1430A>T (p.Gln477Leu)
c.1394A>T (p.Gln465Leu)
c.574A>T
c.122A>T (p.Gln41Leu)
c.1484A>T (p.Gln495Leu)
c.1388A>T (p.Gln463Leu)
c.995A>T (p.Gln332Leu)
c.1391A>T (p.Gln464Leu)
c.422A>T (p.Gln141Leu)
COSMIC COSMIC COSMIC
20g.63414914T>CCA409646101KCNQ2c.1460A>G (p.Gln487Arg)
c.1514A>G (p.Gln505Arg)
c.911A>G (p.Gln304Arg)
c.1424A>G (p.Gln475Arg)
c.1082A>G (p.Gln361Arg)
c.1430A>G (p.Gln477Arg)
c.1394A>G (p.Gln465Arg)
c.574A>G
c.122A>G (p.Gln41Arg)
c.1484A>G (p.Gln495Arg)
c.1388A>G (p.Gln463Arg)
c.995A>G (p.Gln332Arg)
c.1391A>G (p.Gln464Arg)
c.422A>G (p.Gln141Arg)
gnomAD v4
20g.63414914T>GCA409646104KCNQ2c.1460A>C (p.Gln487Pro)
c.1514A>C (p.Gln505Pro)
c.911A>C (p.Gln304Pro)
c.1424A>C (p.Gln475Pro)
c.1082A>C (p.Gln361Pro)
c.1430A>C (p.Gln477Pro)
c.1394A>C (p.Gln465Pro)
c.574A>C
c.122A>C (p.Gln41Pro)
c.1484A>C (p.Gln495Pro)
c.1388A>C (p.Gln463Pro)
c.995A>C (p.Gln332Pro)
c.1391A>C (p.Gln464Pro)
c.422A>C (p.Gln141Pro)
20g.63414915G>ACA409646108KCNQ2c.1459C>T (p.Gln487Ter)
c.1513C>T (p.Gln505Ter)
c.910C>T (p.Gln304Ter)
c.1423C>T (p.Gln475Ter)
c.1081C>T (p.Gln361Ter)
c.1429C>T (p.Gln477Ter)
c.1393C>T (p.Gln465Ter)
c.573C>T
c.121C>T (p.Gln41Ter)
c.1483C>T (p.Gln495Ter)
c.1387C>T (p.Gln463Ter)
c.994C>T (p.Gln332Ter)
c.1390C>T (p.Gln464Ter)
c.421C>T (p.Gln141Ter)
20g.63414915G>CCA409646110KCNQ2c.1459C>G (p.Gln487Glu)
c.1513C>G (p.Gln505Glu)
c.910C>G (p.Gln304Glu)
c.1423C>G (p.Gln475Glu)
c.1081C>G (p.Gln361Glu)
c.1429C>G (p.Gln477Glu)
c.1393C>G (p.Gln465Glu)
c.573C>G
c.121C>G (p.Gln41Glu)
c.1483C>G (p.Gln495Glu)
c.1387C>G (p.Gln463Glu)
c.994C>G (p.Gln332Glu)
c.1390C>G (p.Gln464Glu)
c.421C>G (p.Gln141Glu)
20g.63414915G=CA2374778760KCNQ2c.1459C= (p.Gln487=)
c.1513C= (p.Gln505=)
c.910C= (p.Gln304=)
c.1423C= (p.Gln475=)
c.1081C= (p.Gln361=)
c.1429C= (p.Gln477=)
c.1393C= (p.Gln465=)
c.573C=
c.121C= (p.Gln41=)
c.1483C= (p.Gln495=)
c.1387C= (p.Gln463=)
c.994C= (p.Gln332=)
c.1390C= (p.Gln464=)
c.421C= (p.Gln141=)
20g.63414915G>TCA9958443KCNQ2c.1459C>A (p.Gln487Lys)
c.1513C>A (p.Gln505Lys)
c.910C>A (p.Gln304Lys)
c.1423C>A (p.Gln475Lys)
c.1081C>A (p.Gln361Lys)
c.1429C>A (p.Gln477Lys)
c.1393C>A (p.Gln465Lys)
c.573C>A
c.121C>A (p.Gln41Lys)
c.1483C>A (p.Gln495Lys)
c.1387C>A (p.Gln463Lys)
c.994C>A (p.Gln332Lys)
c.1390C>A (p.Gln464Lys)
c.421C>A (p.Gln141Lys)
dbSNP ExAC
20g.63414916C>ACA511339618KCNQ2c.1458G>T (p.Arg486=)
c.1512G>T (p.Arg504=)
c.909G>T (p.Arg303=)
c.1422G>T (p.Arg474=)
c.1080G>T (p.Arg360=)
c.1428G>T (p.Arg476=)
c.1392G>T (p.Arg464=)
c.572G>T
c.120G>T (p.Arg40=)
c.1482G>T (p.Arg494=)
c.1386G>T (p.Arg462=)
c.993G>T (p.Arg331=)
c.1389G>T (p.Arg463=)
c.420G>T (p.Arg140=)
20g.63414916C=CA2374778761KCNQ2c.1458G= (p.Arg486=)
c.1512G= (p.Arg504=)
c.909G= (p.Arg303=)
c.1422G= (p.Arg474=)
c.1080G= (p.Arg360=)
c.1428G= (p.Arg476=)
c.1392G= (p.Arg464=)
c.572G=
c.120G= (p.Arg40=)
c.1482G= (p.Arg494=)
c.1386G= (p.Arg462=)
c.993G= (p.Arg331=)
c.1389G= (p.Arg463=)
c.420G= (p.Arg140=)
20g.63414916C>GCA511339620KCNQ2c.1458G>C (p.Arg486=)
c.1512G>C (p.Arg504=)
c.909G>C (p.Arg303=)
c.1422G>C (p.Arg474=)
c.1080G>C (p.Arg360=)
c.1428G>C (p.Arg476=)
c.1392G>C (p.Arg464=)
c.572G>C
c.120G>C (p.Arg40=)
c.1482G>C (p.Arg494=)
c.1386G>C (p.Arg462=)
c.993G>C (p.Arg331=)
c.1389G>C (p.Arg463=)
c.420G>C (p.Arg140=)
20g.63414916C>TCA9958444KCNQ2c.1458G>A (p.Arg486=)
c.1512G>A (p.Arg504=)
c.909G>A (p.Arg303=)
c.1422G>A (p.Arg474=)
c.1080G>A (p.Arg360=)
c.1428G>A (p.Arg476=)
c.1392G>A (p.Arg464=)
c.572G>A
c.120G>A (p.Arg40=)
c.1482G>A (p.Arg494=)
c.1386G>A (p.Arg462=)
c.993G>A (p.Arg331=)
c.1389G>A (p.Arg463=)
c.420G>A (p.Arg140=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414917C>ACA409646119KCNQ2c.1457G>T (p.Arg486Leu)
c.1511G>T (p.Arg504Leu)
c.908G>T (p.Arg303Leu)
c.1421G>T (p.Arg474Leu)
c.1079G>T (p.Arg360Leu)
c.1427G>T (p.Arg476Leu)
c.1391G>T (p.Arg464Leu)
c.571G>T
c.119G>T (p.Arg40Leu)
c.1481G>T (p.Arg494Leu)
c.1385G>T (p.Arg462Leu)
c.992G>T (p.Arg331Leu)
c.1388G>T (p.Arg463Leu)
c.419G>T (p.Arg140Leu)
20g.63414917C=CA2374778762KCNQ2c.1457G= (p.Arg486=)
c.1511G= (p.Arg504=)
c.908G= (p.Arg303=)
c.1421G= (p.Arg474=)
c.1079G= (p.Arg360=)
c.1427G= (p.Arg476=)
c.1391G= (p.Arg464=)
c.571G=
c.119G= (p.Arg40=)
c.1481G= (p.Arg494=)
c.1385G= (p.Arg462=)
c.992G= (p.Arg331=)
c.1388G= (p.Arg463=)
c.419G= (p.Arg140=)
20g.63414917C>GCA409646114KCNQ2c.1457G>C (p.Arg486Pro)
c.1511G>C (p.Arg504Pro)
c.908G>C (p.Arg303Pro)
c.1421G>C (p.Arg474Pro)
c.1079G>C (p.Arg360Pro)
c.1427G>C (p.Arg476Pro)
c.1391G>C (p.Arg464Pro)
c.571G>C
c.119G>C (p.Arg40Pro)
c.1481G>C (p.Arg494Pro)
c.1385G>C (p.Arg462Pro)
c.992G>C (p.Arg331Pro)
c.1388G>C (p.Arg463Pro)
c.419G>C (p.Arg140Pro)
20g.63414917C>TCA9958445KCNQ2c.1457G>A (p.Arg486Gln)
c.1511G>A (p.Arg504Gln)
c.908G>A (p.Arg303Gln)
c.1421G>A (p.Arg474Gln)
c.1079G>A (p.Arg360Gln)
c.1427G>A (p.Arg476Gln)
c.1391G>A (p.Arg464Gln)
c.571G>A
c.119G>A (p.Arg40Gln)
c.1481G>A (p.Arg494Gln)
c.1385G>A (p.Arg462Gln)
c.992G>A (p.Arg331Gln)
c.1388G>A (p.Arg463Gln)
c.419G>A (p.Arg140Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63414917_63415288delinsTCA2739277255KCNQ2c.1248-162_1457delinsA
c.1302-162_1511delinsA
c.699-162_908delinsA
c.1248-198_1421delinsA
c.906-198_1079delinsA
c.1218-162_1427delinsA
c.1218-198_1391delinsA
c.362-162_571delinsA
c.1272-162_1481delinsA
c.1176-162_1385delinsA
c.783-162_992delinsA
c.1179-162_1388delinsA
c.210-162_419delinsA
20g.63414918G>ACA409646122KCNQ2c.1456C>T (p.Arg486Trp)
c.1510C>T (p.Arg504Trp)
c.907C>T (p.Arg303Trp)
c.1420C>T (p.Arg474Trp)
c.1078C>T (p.Arg360Trp)
c.1426C>T (p.Arg476Trp)
c.1390C>T (p.Arg464Trp)
c.570C>T
c.118C>T (p.Arg40Trp)
c.1480C>T (p.Arg494Trp)
c.1384C>T (p.Arg462Trp)
c.991C>T (p.Arg331Trp)
c.1387C>T (p.Arg463Trp)
c.418C>T (p.Arg140Trp)
dbSNP gnomAD v4
20g.63414918G>CCA409646129KCNQ2c.1456C>G (p.Arg486Gly)
c.1510C>G (p.Arg504Gly)
c.907C>G (p.Arg303Gly)
c.1420C>G (p.Arg474Gly)
c.1078C>G (p.Arg360Gly)
c.1426C>G (p.Arg476Gly)
c.1390C>G (p.Arg464Gly)
c.570C>G
c.118C>G (p.Arg40Gly)
c.1480C>G (p.Arg494Gly)
c.1384C>G (p.Arg462Gly)
c.991C>G (p.Arg331Gly)
c.1387C>G (p.Arg463Gly)
c.418C>G (p.Arg140Gly)
20g.63414918G=CA2374778763KCNQ2c.1456C= (p.Arg486=)
c.1510C= (p.Arg504=)
c.907C= (p.Arg303=)
c.1420C= (p.Arg474=)
c.1078C= (p.Arg360=)
c.1426C= (p.Arg476=)
c.1390C= (p.Arg464=)
c.570C=
c.118C= (p.Arg40=)
c.1480C= (p.Arg494=)
c.1384C= (p.Arg462=)
c.991C= (p.Arg331=)
c.1387C= (p.Arg463=)
c.418C= (p.Arg140=)
20g.63414918G>TCA511339625KCNQ2c.1456C>A (p.Arg486=)
c.1510C>A (p.Arg504=)
c.907C>A (p.Arg303=)
c.1420C>A (p.Arg474=)
c.1078C>A (p.Arg360=)
c.1426C>A (p.Arg476=)
c.1390C>A (p.Arg464=)
c.570C>A
c.118C>A (p.Arg40=)
c.1480C>A (p.Arg494=)
c.1384C>A (p.Arg462=)
c.991C>A (p.Arg331=)
c.1387C>A (p.Arg463=)
c.418C>A (p.Arg140=)
20g.63414919T>ACA511339627KCNQ2c.1455A>T (p.Ser485=)
c.1509A>T (p.Ser503=)
c.906A>T (p.Ser302=)
c.1419A>T (p.Ser473=)
c.1077A>T (p.Ser359=)
c.1425A>T (p.Ser475=)
c.1389A>T (p.Ser463=)
c.569A>T
c.117A>T (p.Ser39=)
c.1479A>T (p.Ser493=)
c.1383A>T (p.Ser461=)
c.990A>T (p.Ser330=)
c.1386A>T (p.Ser462=)
c.417A>T (p.Ser139=)
20g.63414919T>CCA511339628KCNQ2c.1455A>G (p.Ser485=)
c.1509A>G (p.Ser503=)
c.906A>G (p.Ser302=)
c.1419A>G (p.Ser473=)
c.1077A>G (p.Ser359=)
c.1425A>G (p.Ser475=)
c.1389A>G (p.Ser463=)
c.569A>G
c.117A>G (p.Ser39=)
c.1479A>G (p.Ser493=)
c.1383A>G (p.Ser461=)
c.990A>G (p.Ser330=)
c.1386A>G (p.Ser462=)
c.417A>G (p.Ser139=)
gnomAD v4
20g.63414919T>GCA511339629KCNQ2c.1455A>C (p.Ser485=)
c.1509A>C (p.Ser503=)
c.906A>C (p.Ser302=)
c.1419A>C (p.Ser473=)
c.1077A>C (p.Ser359=)
c.1425A>C (p.Ser475=)
c.1389A>C (p.Ser463=)
c.569A>C
c.117A>C (p.Ser39=)
c.1479A>C (p.Ser493=)
c.1383A>C (p.Ser461=)
c.990A>C (p.Ser330=)
c.1386A>C (p.Ser462=)
c.417A>C (p.Ser139=)
gnomAD v4
20g.63414920G>ACA409646132KCNQ2c.1454C>T (p.Ser485Leu)
c.1508C>T (p.Ser503Leu)
c.905C>T (p.Ser302Leu)
c.1418C>T (p.Ser473Leu)
c.1076C>T (p.Ser359Leu)
c.1424C>T (p.Ser475Leu)
c.1388C>T (p.Ser463Leu)
c.568C>T
c.116C>T (p.Ser39Leu)
c.1478C>T (p.Ser493Leu)
c.1382C>T (p.Ser461Leu)
c.989C>T (p.Ser330Leu)
c.1385C>T (p.Ser462Leu)
c.416C>T (p.Ser139Leu)
COSMIC COSMIC COSMIC
20g.63414920G>CCA409646133KCNQ2c.1454C>G (p.Ser485Ter)
c.1508C>G (p.Ser503Ter)
c.905C>G (p.Ser302Ter)
c.1418C>G (p.Ser473Ter)
c.1076C>G (p.Ser359Ter)
c.1424C>G (p.Ser475Ter)
c.1388C>G (p.Ser463Ter)
c.568C>G
c.116C>G (p.Ser39Ter)
c.1478C>G (p.Ser493Ter)
c.1382C>G (p.Ser461Ter)
c.989C>G (p.Ser330Ter)
c.1385C>G (p.Ser462Ter)
c.416C>G (p.Ser139Ter)
ClinVar dbSNP
20g.63414920G=CA2374778764KCNQ2c.1454C= (p.Ser485=)
c.1508C= (p.Ser503=)
c.905C= (p.Ser302=)
c.1418C= (p.Ser473=)
c.1076C= (p.Ser359=)
c.1424C= (p.Ser475=)
c.1388C= (p.Ser463=)
c.568C=
c.116C= (p.Ser39=)
c.1478C= (p.Ser493=)
c.1382C= (p.Ser461=)
c.989C= (p.Ser330=)
c.1385C= (p.Ser462=)
c.416C= (p.Ser139=)
20g.63414920G>TCA409646134KCNQ2c.1454C>A (p.Ser485Ter)
c.1508C>A (p.Ser503Ter)
c.905C>A (p.Ser302Ter)
c.1418C>A (p.Ser473Ter)
c.1076C>A (p.Ser359Ter)
c.1424C>A (p.Ser475Ter)
c.1388C>A (p.Ser463Ter)
c.568C>A
c.116C>A (p.Ser39Ter)
c.1478C>A (p.Ser493Ter)
c.1382C>A (p.Ser461Ter)
c.989C>A (p.Ser330Ter)
c.1385C>A (p.Ser462Ter)
c.416C>A (p.Ser139Ter)
20g.63414921A>CCA409646136KCNQ2c.1453T>G (p.Ser485Ala)
c.1507T>G (p.Ser503Ala)
c.904T>G (p.Ser302Ala)
c.1417T>G (p.Ser473Ala)
c.1075T>G (p.Ser359Ala)
c.1423T>G (p.Ser475Ala)
c.1387T>G (p.Ser463Ala)
c.567T>G
c.115T>G (p.Ser39Ala)
c.1477T>G (p.Ser493Ala)
c.1381T>G (p.Ser461Ala)
c.988T>G (p.Ser330Ala)
c.1384T>G (p.Ser462Ala)
c.415T>G (p.Ser139Ala)
20g.63414921A>GCA409646142KCNQ2c.1453T>C (p.Ser485Pro)
c.1507T>C (p.Ser503Pro)
c.904T>C (p.Ser302Pro)
c.1417T>C (p.Ser473Pro)
c.1075T>C (p.Ser359Pro)
c.1423T>C (p.Ser475Pro)
c.1387T>C (p.Ser463Pro)
c.567T>C
c.115T>C (p.Ser39Pro)
c.1477T>C (p.Ser493Pro)
c.1381T>C (p.Ser461Pro)
c.988T>C (p.Ser330Pro)
c.1384T>C (p.Ser462Pro)
c.415T>C (p.Ser139Pro)
20g.63414921A>TCA409646138KCNQ2c.1453T>A (p.Ser485Thr)
c.1507T>A (p.Ser503Thr)
c.904T>A (p.Ser302Thr)
c.1417T>A (p.Ser473Thr)
c.1075T>A (p.Ser359Thr)
c.1423T>A (p.Ser475Thr)
c.1387T>A (p.Ser463Thr)
c.567T>A
c.115T>A (p.Ser39Thr)
c.1477T>A (p.Ser493Thr)
c.1381T>A (p.Ser461Thr)
c.988T>A (p.Ser330Thr)
c.1384T>A (p.Ser462Thr)
c.415T>A (p.Ser139Thr)
dbSNP
20g.63414922C>ACA511339634KCNQ2c.1452G>T (p.Ala484=)
c.1506G>T (p.Ala502=)
c.903G>T (p.Ala301=)
c.1416G>T (p.Ala472=)
c.1074G>T (p.Ala358=)
c.1422G>T (p.Ala474=)
c.1386G>T (p.Ala462=)
c.566G>T
c.114G>T (p.Ala38=)
c.1476G>T (p.Ala492=)
c.1380G>T (p.Ala460=)
c.987G>T (p.Ala329=)
c.1383G>T (p.Ala461=)
c.414G>T (p.Ala138=)
20g.63414922C=CA2374778765KCNQ2c.1452G= (p.Ala484=)
c.1506G= (p.Ala502=)
c.903G= (p.Ala301=)
c.1416G= (p.Ala472=)
c.1074G= (p.Ala358=)
c.1422G= (p.Ala474=)
c.1386G= (p.Ala462=)
c.566G=
c.114G= (p.Ala38=)
c.1476G= (p.Ala492=)
c.1380G= (p.Ala460=)
c.987G= (p.Ala329=)
c.1383G= (p.Ala461=)
c.414G= (p.Ala138=)
20g.63414922C>GCA511339635KCNQ2c.1452G>C (p.Ala484=)
c.1506G>C (p.Ala502=)
c.903G>C (p.Ala301=)
c.1416G>C (p.Ala472=)
c.1074G>C (p.Ala358=)
c.1422G>C (p.Ala474=)
c.1386G>C (p.Ala462=)
c.566G>C
c.114G>C (p.Ala38=)
c.1476G>C (p.Ala492=)
c.1380G>C (p.Ala460=)
c.987G>C (p.Ala329=)
c.1383G>C (p.Ala461=)
c.414G>C (p.Ala138=)
dbSNP

Number of alleles fetched