Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
 ClinVar
20g.63415054_63415071delinsCGGGGACCCCTTCCCCTTCA2374778830KCNQ2c.1303_1320delinsAAGGGGAAGGGGTCCCCG (p.Lys435=)
c.1357_1374delinsAAGGGGAAGGGGTCCCCG (p.Lys453=)
c.754_771delinsAAGGGGAAGGGGTCCCCG (p.Lys252=)
c.1267_1284delinsAAGGGGAAGGGGTCCCCG (p.Lys423=)
c.925_942delinsAAGGGGAAGGGGTCCCCG (p.Lys309=)
c.1273_1290delinsAAGGGGAAGGGGTCCCCG (p.Lys425=)
c.1237_1254delinsAAGGGGAAGGGGTCCCCG (p.Lys413=)
c.417_434delinsAAGGGGAAGGGGTCCCCG
c.1327_1344delinsAAGGGGAAGGGGTCCCCG (p.Lys443=)
c.1231_1248delinsAAGGGGAAGGGGTCCCCG (p.Lys411=)
c.838_855delinsAAGGGGAAGGGGTCCCCG (p.Lys280=)
c.1234_1251delinsAAGGGGAAGGGGTCCCCG (p.Lys412=)
c.265_282delinsAAGGGGAAGGGGTCCCCG (p.Lys89=)
20g.63415058delCA2653800660KCNQ2c.1319del (p.Pro440ArgfsTer6)
c.1373del (p.Pro458ArgfsTer6)
c.770del (p.Pro257ArgfsTer6)
c.1283del (p.Pro428ArgfsTer6)
c.941del (p.Pro314ArgfsTer6)
c.1289del (p.Pro430ArgfsTer6)
c.1253del (p.Pro418ArgfsTer6)
c.433del
c.1343del (p.Pro448ArgfsTer6)
c.1247del (p.Pro416ArgfsTer6)
c.854del (p.Pro285ArgfsTer6)
c.1250del (p.Pro417ArgfsTer6)
c.281del (p.Pro94ArgfsTer6)
 gnomAD v4
20g.63415057_63415073delCA658658884KCNQ2c.1303_1319del (p.Lys435AlafsTer?)
c.1357_1373del (p.Lys453AlafsTer?)
c.754_770del (p.Lys252AlafsTer?)
c.1267_1283del (p.Lys423AlafsTer?)
c.925_941del (p.Lys309AlafsTer?)
c.1273_1289del (p.Lys425AlafsTer?)
c.1237_1253del (p.Lys413AlafsTer?)
c.417_433del
c.1327_1343del (p.Lys443AlafsTer?)
c.1231_1247del (p.Lys411AlafsTer?)
c.838_854del (p.Lys280AlafsTer?)
c.1234_1250del (p.Lys412AlafsTer?)
c.265_281del (p.Lys89AlafsTer?)
 ClinVar dbSNP
20g.63415058G>ACA409646727KCNQ2c.1316C>T (p.Ser439Phe)
c.1370C>T (p.Ser457Phe)
c.767C>T (p.Ser256Phe)
c.1280C>T (p.Ser427Phe)
c.938C>T (p.Ser313Phe)
c.1286C>T (p.Ser429Phe)
c.1250C>T (p.Ser417Phe)
c.430C>T
c.1340C>T (p.Ser447Phe)
c.1244C>T (p.Ser415Phe)
c.851C>T (p.Ser284Phe)
c.1247C>T (p.Ser416Phe)
c.278C>T (p.Ser93Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415058G>CCA409646728KCNQ2c.1316C>G (p.Ser439Cys)
c.1370C>G (p.Ser457Cys)
c.767C>G (p.Ser256Cys)
c.1280C>G (p.Ser427Cys)
c.938C>G (p.Ser313Cys)
c.1286C>G (p.Ser429Cys)
c.1250C>G (p.Ser417Cys)
c.430C>G
c.1340C>G (p.Ser447Cys)
c.1244C>G (p.Ser415Cys)
c.851C>G (p.Ser284Cys)
c.1247C>G (p.Ser416Cys)
c.278C>G (p.Ser93Cys)
 dbSNP
20g.63415058G=CA2374778834KCNQ2c.1316C= (p.Ser439=)
c.1370C= (p.Ser457=)
c.767C= (p.Ser256=)
c.1280C= (p.Ser427=)
c.938C= (p.Ser313=)
c.1286C= (p.Ser429=)
c.1250C= (p.Ser417=)
c.430C=
c.1340C= (p.Ser447=)
c.1244C= (p.Ser415=)
c.851C= (p.Ser284=)
c.1247C= (p.Ser416=)
c.278C= (p.Ser93=)
20g.63415058G>TCA409646729KCNQ2c.1316C>A (p.Ser439Tyr)
c.1370C>A (p.Ser457Tyr)
c.767C>A (p.Ser256Tyr)
c.1280C>A (p.Ser427Tyr)
c.938C>A (p.Ser313Tyr)
c.1286C>A (p.Ser429Tyr)
c.1250C>A (p.Ser417Tyr)
c.430C>A
c.1340C>A (p.Ser447Tyr)
c.1244C>A (p.Ser415Tyr)
c.851C>A (p.Ser284Tyr)
c.1247C>A (p.Ser416Tyr)
c.278C>A (p.Ser93Tyr)
 gnomAD v4
20g.63415059A=CA2374778835KCNQ2c.1315T= (p.Ser439=)
c.1369T= (p.Ser457=)
c.766T= (p.Ser256=)
c.1279T= (p.Ser427=)
c.937T= (p.Ser313=)
c.1285T= (p.Ser429=)
c.1249T= (p.Ser417=)
c.429T=
c.1339T= (p.Ser447=)
c.1243T= (p.Ser415=)
c.850T= (p.Ser284=)
c.1246T= (p.Ser416=)
c.277T= (p.Ser93=)
20g.63415059A>CCA317431105KCNQ2c.1315T>G (p.Ser439Ala)
c.1369T>G (p.Ser457Ala)
c.766T>G (p.Ser256Ala)
c.1279T>G (p.Ser427Ala)
c.937T>G (p.Ser313Ala)
c.1285T>G (p.Ser429Ala)
c.1249T>G (p.Ser417Ala)
c.429T>G
c.1339T>G (p.Ser447Ala)
c.1243T>G (p.Ser415Ala)
c.850T>G (p.Ser284Ala)
c.1246T>G (p.Ser416Ala)
c.277T>G (p.Ser93Ala)
 dbSNP
20g.63415059A>GCA409646731KCNQ2c.1315T>C (p.Ser439Pro)
c.1369T>C (p.Ser457Pro)
c.766T>C (p.Ser256Pro)
c.1279T>C (p.Ser427Pro)
c.937T>C (p.Ser313Pro)
c.1285T>C (p.Ser429Pro)
c.1249T>C (p.Ser417Pro)
c.429T>C
c.1339T>C (p.Ser447Pro)
c.1243T>C (p.Ser415Pro)
c.850T>C (p.Ser284Pro)
c.1246T>C (p.Ser416Pro)
c.277T>C (p.Ser93Pro)
20g.63415059A>TCA409646730KCNQ2c.1315T>A (p.Ser439Thr)
c.1369T>A (p.Ser457Thr)
c.766T>A (p.Ser256Thr)
c.1279T>A (p.Ser427Thr)
c.937T>A (p.Ser313Thr)
c.1285T>A (p.Ser429Thr)
c.1249T>A (p.Ser417Thr)
c.429T>A
c.1339T>A (p.Ser447Thr)
c.1243T>A (p.Ser415Thr)
c.850T>A (p.Ser284Thr)
c.1246T>A (p.Ser416Thr)
c.277T>A (p.Ser93Thr)
 dbSNP
20g.63415060C>ACA511339781KCNQ2c.1314G>T (p.Gly438=)
c.1368G>T (p.Gly456=)
c.765G>T (p.Gly255=)
c.1278G>T (p.Gly426=)
c.936G>T (p.Gly312=)
c.1284G>T (p.Gly428=)
c.1248G>T (p.Gly416=)
c.428G>T
c.1338G>T (p.Gly446=)
c.1242G>T (p.Gly414=)
c.849G>T (p.Gly283=)
c.1245G>T (p.Gly415=)
c.276G>T (p.Gly92=)
20g.63415060C=CA2374778836KCNQ2c.1314G= (p.Gly438=)
c.1368G= (p.Gly456=)
c.765G= (p.Gly255=)
c.1278G= (p.Gly426=)
c.936G= (p.Gly312=)
c.1284G= (p.Gly428=)
c.1248G= (p.Gly416=)
c.428G=
c.1338G= (p.Gly446=)
c.1242G= (p.Gly414=)
c.849G= (p.Gly283=)
c.1245G= (p.Gly415=)
c.276G= (p.Gly92=)
20g.63415060C>GCA511339782KCNQ2c.1314G>C (p.Gly438=)
c.1368G>C (p.Gly456=)
c.765G>C (p.Gly255=)
c.1278G>C (p.Gly426=)
c.936G>C (p.Gly312=)
c.1284G>C (p.Gly428=)
c.1248G>C (p.Gly416=)
c.428G>C
c.1338G>C (p.Gly446=)
c.1242G>C (p.Gly414=)
c.849G>C (p.Gly283=)
c.1245G>C (p.Gly415=)
c.276G>C (p.Gly92=)
20g.63415060C>TCA9958464KCNQ2c.1314G>A (p.Gly438=)
c.1368G>A (p.Gly456=)
c.765G>A (p.Gly255=)
c.1278G>A (p.Gly426=)
c.936G>A (p.Gly312=)
c.1284G>A (p.Gly428=)
c.1248G>A (p.Gly416=)
c.428G>A
c.1338G>A (p.Gly446=)
c.1242G>A (p.Gly414=)
c.849G>A (p.Gly283=)
c.1245G>A (p.Gly415=)
c.276G>A (p.Gly92=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415063delCA2499225796KCNQ2c.1314del (p.Ser439ProfsTer7)
c.1368del (p.Ser457ProfsTer7)
c.765del (p.Ser256ProfsTer7)
c.1278del (p.Ser427ProfsTer7)
c.936del (p.Ser313ProfsTer7)
c.1284del (p.Ser429ProfsTer7)
c.1248del (p.Ser417ProfsTer7)
c.428del
c.1338del (p.Ser447ProfsTer7)
c.1242del (p.Ser415ProfsTer7)
c.849del (p.Ser284ProfsTer7)
c.1245del (p.Ser416ProfsTer7)
c.276del (p.Ser93ProfsTer7)
 ClinVar dbSNP
20g.63415061C>ACA409646732KCNQ2c.1313G>T (p.Gly438Val)
c.1367G>T (p.Gly456Val)
c.764G>T (p.Gly255Val)
c.1277G>T (p.Gly426Val)
c.935G>T (p.Gly312Val)
c.1283G>T (p.Gly428Val)
c.1247G>T (p.Gly416Val)
c.427G>T
c.1337G>T (p.Gly446Val)
c.1241G>T (p.Gly414Val)
c.848G>T (p.Gly283Val)
c.1244G>T (p.Gly415Val)
c.275G>T (p.Gly92Val)
 gnomAD v4
20g.63415061C=CA2374778837KCNQ2c.1313G= (p.Gly438=)
c.1367G= (p.Gly456=)
c.764G= (p.Gly255=)
c.1277G= (p.Gly426=)
c.935G= (p.Gly312=)
c.1283G= (p.Gly428=)
c.1247G= (p.Gly416=)
c.427G=
c.1337G= (p.Gly446=)
c.1241G= (p.Gly414=)
c.848G= (p.Gly283=)
c.1244G= (p.Gly415=)
c.275G= (p.Gly92=)
20g.63415061C>GCA409646733KCNQ2c.1313G>C (p.Gly438Ala)
c.1367G>C (p.Gly456Ala)
c.764G>C (p.Gly255Ala)
c.1277G>C (p.Gly426Ala)
c.935G>C (p.Gly312Ala)
c.1283G>C (p.Gly428Ala)
c.1247G>C (p.Gly416Ala)
c.427G>C
c.1337G>C (p.Gly446Ala)
c.1241G>C (p.Gly414Ala)
c.848G>C (p.Gly283Ala)
c.1244G>C (p.Gly415Ala)
c.275G>C (p.Gly92Ala)
20g.63415061C>TCA9958465KCNQ2c.1313G>A (p.Gly438Glu)
c.1367G>A (p.Gly456Glu)
c.764G>A (p.Gly255Glu)
c.1277G>A (p.Gly426Glu)
c.935G>A (p.Gly312Glu)
c.1283G>A (p.Gly428Glu)
c.1247G>A (p.Gly416Glu)
c.427G>A
c.1337G>A (p.Gly446Glu)
c.1241G>A (p.Gly414Glu)
c.848G>A (p.Gly283Glu)
c.1244G>A (p.Gly415Glu)
c.275G>A (p.Gly92Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415062C>ACA409646734KCNQ2c.1312G>T (p.Gly438Trp)
c.1366G>T (p.Gly456Trp)
c.763G>T (p.Gly255Trp)
c.1276G>T (p.Gly426Trp)
c.934G>T (p.Gly312Trp)
c.1282G>T (p.Gly428Trp)
c.1246G>T (p.Gly416Trp)
c.426G>T
c.1336G>T (p.Gly446Trp)
c.1240G>T (p.Gly414Trp)
c.847G>T (p.Gly283Trp)
c.1243G>T (p.Gly415Trp)
c.274G>T (p.Gly92Trp)
 dbSNP gnomAD v2 gnomAD v4
20g.63415062C=CA2374778838KCNQ2c.1312G= (p.Gly438=)
c.1366G= (p.Gly456=)
c.763G= (p.Gly255=)
c.1276G= (p.Gly426=)
c.934G= (p.Gly312=)
c.1282G= (p.Gly428=)
c.1246G= (p.Gly416=)
c.426G=
c.1336G= (p.Gly446=)
c.1240G= (p.Gly414=)
c.847G= (p.Gly283=)
c.1243G= (p.Gly415=)
c.274G= (p.Gly92=)
20g.63415062C>GCA409646735KCNQ2c.1312G>C (p.Gly438Arg)
c.1366G>C (p.Gly456Arg)
c.763G>C (p.Gly255Arg)
c.1276G>C (p.Gly426Arg)
c.934G>C (p.Gly312Arg)
c.1282G>C (p.Gly428Arg)
c.1246G>C (p.Gly416Arg)
c.426G>C
c.1336G>C (p.Gly446Arg)
c.1240G>C (p.Gly414Arg)
c.847G>C (p.Gly283Arg)
c.1243G>C (p.Gly415Arg)
c.274G>C (p.Gly92Arg)
20g.63415062C>TCA409646736KCNQ2c.1312G>A (p.Gly438Arg)
c.1366G>A (p.Gly456Arg)
c.763G>A (p.Gly255Arg)
c.1276G>A (p.Gly426Arg)
c.934G>A (p.Gly312Arg)
c.1282G>A (p.Gly428Arg)
c.1246G>A (p.Gly416Arg)
c.426G>A
c.1336G>A (p.Gly446Arg)
c.1240G>A (p.Gly414Arg)
c.847G>A (p.Gly283Arg)
c.1243G>A (p.Gly415Arg)
c.274G>A (p.Gly92Arg)
20g.63415063C>ACA409646737KCNQ2c.1311G>T (p.Lys437Asn)
c.1365G>T (p.Lys455Asn)
c.762G>T (p.Lys254Asn)
c.1275G>T (p.Lys425Asn)
c.933G>T (p.Lys311Asn)
c.1281G>T (p.Lys427Asn)
c.1245G>T (p.Lys415Asn)
c.425G>T
c.1335G>T (p.Lys445Asn)
c.1239G>T (p.Lys413Asn)
c.846G>T (p.Lys282Asn)
c.1242G>T (p.Lys414Asn)
c.273G>T (p.Lys91Asn)
20g.63415063C=CA2374778839KCNQ2c.1311G= (p.Lys437=)
c.1365G= (p.Lys455=)
c.762G= (p.Lys254=)
c.1275G= (p.Lys425=)
c.933G= (p.Lys311=)
c.1281G= (p.Lys427=)
c.1245G= (p.Lys415=)
c.425G=
c.1335G= (p.Lys445=)
c.1239G= (p.Lys413=)
c.846G= (p.Lys282=)
c.1242G= (p.Lys414=)
c.273G= (p.Lys91=)
20g.63415063C>GCA409646738KCNQ2c.1311G>C (p.Lys437Asn)
c.1365G>C (p.Lys455Asn)
c.762G>C (p.Lys254Asn)
c.1275G>C (p.Lys425Asn)
c.933G>C (p.Lys311Asn)
c.1281G>C (p.Lys427Asn)
c.1245G>C (p.Lys415Asn)
c.425G>C
c.1335G>C (p.Lys445Asn)
c.1239G>C (p.Lys413Asn)
c.846G>C (p.Lys282Asn)
c.1242G>C (p.Lys414Asn)
c.273G>C (p.Lys91Asn)
20g.63415063C>TCA317431114KCNQ2c.1311G>A (p.Lys437=)
c.1365G>A (p.Lys455=)
c.762G>A (p.Lys254=)
c.1275G>A (p.Lys425=)
c.933G>A (p.Lys311=)
c.1281G>A (p.Lys427=)
c.1245G>A (p.Lys415=)
c.425G>A
c.1335G>A (p.Lys445=)
c.1239G>A (p.Lys413=)
c.846G>A (p.Lys282=)
c.1242G>A (p.Lys414=)
c.273G>A (p.Lys91=)
 ClinVar dbSNP gnomAD v4
20g.63415064T>ACA409646739KCNQ2c.1310A>T (p.Lys437Met)
c.1364A>T (p.Lys455Met)
c.761A>T (p.Lys254Met)
c.1274A>T (p.Lys425Met)
c.932A>T (p.Lys311Met)
c.1280A>T (p.Lys427Met)
c.1244A>T (p.Lys415Met)
c.424A>T
c.1334A>T (p.Lys445Met)
c.1238A>T (p.Lys413Met)
c.845A>T (p.Lys282Met)
c.1241A>T (p.Lys414Met)
c.272A>T (p.Lys91Met)
20g.63415064T>CCA409646740KCNQ2c.1310A>G (p.Lys437Arg)
c.1364A>G (p.Lys455Arg)
c.761A>G (p.Lys254Arg)
c.1274A>G (p.Lys425Arg)
c.932A>G (p.Lys311Arg)
c.1280A>G (p.Lys427Arg)
c.1244A>G (p.Lys415Arg)
c.424A>G
c.1334A>G (p.Lys445Arg)
c.1238A>G (p.Lys413Arg)
c.845A>G (p.Lys282Arg)
c.1241A>G (p.Lys414Arg)
c.272A>G (p.Lys91Arg)
 ClinVar dbSNP gnomAD v4
20g.63415064T>GCA409646741KCNQ2c.1310A>C (p.Lys437Thr)
c.1364A>C (p.Lys455Thr)
c.761A>C (p.Lys254Thr)
c.1274A>C (p.Lys425Thr)
c.932A>C (p.Lys311Thr)
c.1280A>C (p.Lys427Thr)
c.1244A>C (p.Lys415Thr)
c.424A>C
c.1334A>C (p.Lys445Thr)
c.1238A>C (p.Lys413Thr)
c.845A>C (p.Lys282Thr)
c.1241A>C (p.Lys414Thr)
c.272A>C (p.Lys91Thr)
20g.63415064T=CA2374778840KCNQ2c.1310A= (p.Lys437=)
c.1364A= (p.Lys455=)
c.761A= (p.Lys254=)
c.1274A= (p.Lys425=)
c.932A= (p.Lys311=)
c.1280A= (p.Lys427=)
c.1244A= (p.Lys415=)
c.424A=
c.1334A= (p.Lys445=)
c.1238A= (p.Lys413=)
c.845A= (p.Lys282=)
c.1241A= (p.Lys414=)
c.272A= (p.Lys91=)
20g.63415065T>ACA409646744KCNQ2c.1309A>T (p.Lys437Ter)
c.1363A>T (p.Lys455Ter)
c.760A>T (p.Lys254Ter)
n.100A>T
c.1273A>T (p.Lys425Ter)
c.931A>T (p.Lys311Ter)
c.1279A>T (p.Lys427Ter)
c.1243A>T (p.Lys415Ter)
c.423A>T
c.1333A>T (p.Lys445Ter)
c.1237A>T (p.Lys413Ter)
c.844A>T (p.Lys282Ter)
c.1240A>T (p.Lys414Ter)
c.271A>T (p.Lys91Ter)
20g.63415065T>CCA409646742KCNQ2c.1309A>G (p.Lys437Glu)
c.1363A>G (p.Lys455Glu)
c.760A>G (p.Lys254Glu)
n.100A>G
c.1273A>G (p.Lys425Glu)
c.931A>G (p.Lys311Glu)
c.1279A>G (p.Lys427Glu)
c.1243A>G (p.Lys415Glu)
c.423A>G
c.1333A>G (p.Lys445Glu)
c.1237A>G (p.Lys413Glu)
c.844A>G (p.Lys282Glu)
c.1240A>G (p.Lys414Glu)
c.271A>G (p.Lys91Glu)
 gnomAD v4
20g.63415065T>GCA409646743KCNQ2c.1309A>C (p.Lys437Gln)
c.1363A>C (p.Lys455Gln)
c.760A>C (p.Lys254Gln)
n.100A>C
c.1273A>C (p.Lys425Gln)
c.931A>C (p.Lys311Gln)
c.1279A>C (p.Lys427Gln)
c.1243A>C (p.Lys415Gln)
c.423A>C
c.1333A>C (p.Lys445Gln)
c.1237A>C (p.Lys413Gln)
c.844A>C (p.Lys282Gln)
c.1240A>C (p.Lys414Gln)
c.271A>C (p.Lys91Gln)
20g.63415066C>ACA511339787KCNQ2c.1308G>T (p.Gly436=)
c.1362G>T (p.Gly454=)
c.759G>T (p.Gly253=)
n.99G>T
c.1272G>T (p.Gly424=)
c.930G>T (p.Gly310=)
c.1278G>T (p.Gly426=)
c.1242G>T (p.Gly414=)
c.422G>T
c.1332G>T (p.Gly444=)
c.1236G>T (p.Gly412=)
c.843G>T (p.Gly281=)
c.1239G>T (p.Gly413=)
c.270G>T (p.Gly90=)
 gnomAD v4
20g.63415066C>GCA511339788KCNQ2c.1308G>C (p.Gly436=)
c.1362G>C (p.Gly454=)
c.759G>C (p.Gly253=)
n.99G>C
c.1272G>C (p.Gly424=)
c.930G>C (p.Gly310=)
c.1278G>C (p.Gly426=)
c.1242G>C (p.Gly414=)
c.422G>C
c.1332G>C (p.Gly444=)
c.1236G>C (p.Gly412=)
c.843G>C (p.Gly281=)
c.1239G>C (p.Gly413=)
c.270G>C (p.Gly90=)
 gnomAD v4
20g.63415066C>TCA511339790KCNQ2c.1308G>A (p.Gly436=)
c.1362G>A (p.Gly454=)
c.759G>A (p.Gly253=)
n.99G>A
c.1272G>A (p.Gly424=)
c.930G>A (p.Gly310=)
c.1278G>A (p.Gly426=)
c.1242G>A (p.Gly414=)
c.422G>A
c.1332G>A (p.Gly444=)
c.1236G>A (p.Gly412=)
c.843G>A (p.Gly281=)
c.1239G>A (p.Gly413=)
c.270G>A (p.Gly90=)
20g.63415067C>ACA409646745KCNQ2c.1307G>T (p.Gly436Val)
c.1361G>T (p.Gly454Val)
c.758G>T (p.Gly253Val)
n.98G>T
c.1271G>T (p.Gly424Val)
c.929G>T (p.Gly310Val)
c.1277G>T (p.Gly426Val)
c.1241G>T (p.Gly414Val)
c.421G>T
c.1331G>T (p.Gly444Val)
c.1235G>T (p.Gly412Val)
c.842G>T (p.Gly281Val)
c.1238G>T (p.Gly413Val)
c.269G>T (p.Gly90Val)
 dbSNP gnomAD v2 gnomAD v4
20g.63415067C=CA2374778841KCNQ2c.1307G= (p.Gly436=)
c.1361G= (p.Gly454=)
c.758G= (p.Gly253=)
n.98G=
c.1271G= (p.Gly424=)
c.929G= (p.Gly310=)
c.1277G= (p.Gly426=)
c.1241G= (p.Gly414=)
c.421G=
c.1331G= (p.Gly444=)
c.1235G= (p.Gly412=)
c.842G= (p.Gly281=)
c.1238G= (p.Gly413=)
c.269G= (p.Gly90=)
20g.63415067C>GCA409646746KCNQ2c.1307G>C (p.Gly436Ala)
c.1361G>C (p.Gly454Ala)
c.758G>C (p.Gly253Ala)
n.98G>C
c.1271G>C (p.Gly424Ala)
c.929G>C (p.Gly310Ala)
c.1277G>C (p.Gly426Ala)
c.1241G>C (p.Gly414Ala)
c.421G>C
c.1331G>C (p.Gly444Ala)
c.1235G>C (p.Gly412Ala)
c.842G>C (p.Gly281Ala)
c.1238G>C (p.Gly413Ala)
c.269G>C (p.Gly90Ala)
20g.63415067C>TCA409646747KCNQ2c.1307G>A (p.Gly436Glu)
c.1361G>A (p.Gly454Glu)
c.758G>A (p.Gly253Glu)
n.98G>A
c.1271G>A (p.Gly424Glu)
c.929G>A (p.Gly310Glu)
c.1277G>A (p.Gly426Glu)
c.1241G>A (p.Gly414Glu)
c.421G>A
c.1331G>A (p.Gly444Glu)
c.1235G>A (p.Gly412Glu)
c.842G>A (p.Gly281Glu)
c.1238G>A (p.Gly413Glu)
c.269G>A (p.Gly90Glu)
20g.63415068C>ACA409646748KCNQ2c.1306G>T (p.Gly436Trp)
c.1360G>T (p.Gly454Trp)
c.757G>T (p.Gly253Trp)
n.97G>T
c.1270G>T (p.Gly424Trp)
c.928G>T (p.Gly310Trp)
c.1276G>T (p.Gly426Trp)
c.1240G>T (p.Gly414Trp)
c.420G>T
c.1330G>T (p.Gly444Trp)
c.1234G>T (p.Gly412Trp)
c.841G>T (p.Gly281Trp)
c.1237G>T (p.Gly413Trp)
c.268G>T (p.Gly90Trp)
20g.63415068C>GCA409646749KCNQ2c.1306G>C (p.Gly436Arg)
c.1360G>C (p.Gly454Arg)
c.757G>C (p.Gly253Arg)
n.97G>C
c.1270G>C (p.Gly424Arg)
c.928G>C (p.Gly310Arg)
c.1276G>C (p.Gly426Arg)
c.1240G>C (p.Gly414Arg)
c.420G>C
c.1330G>C (p.Gly444Arg)
c.1234G>C (p.Gly412Arg)
c.841G>C (p.Gly281Arg)
c.1237G>C (p.Gly413Arg)
c.268G>C (p.Gly90Arg)
20g.63415068C>TCA409646750KCNQ2c.1306G>A (p.Gly436Arg)
c.1360G>A (p.Gly454Arg)
c.757G>A (p.Gly253Arg)
n.97G>A
c.1270G>A (p.Gly424Arg)
c.928G>A (p.Gly310Arg)
c.1276G>A (p.Gly426Arg)
c.1240G>A (p.Gly414Arg)
c.420G>A
c.1330G>A (p.Gly444Arg)
c.1234G>A (p.Gly412Arg)
c.841G>A (p.Gly281Arg)
c.1237G>A (p.Gly413Arg)
c.268G>A (p.Gly90Arg)
 gnomAD v4
20g.63415069C>ACA409646751KCNQ2c.1305G>T (p.Lys435Asn)
c.1359G>T (p.Lys453Asn)
c.756G>T (p.Lys252Asn)
n.96G>T
c.1269G>T (p.Lys423Asn)
c.927G>T (p.Lys309Asn)
c.1275G>T (p.Lys425Asn)
c.1239G>T (p.Lys413Asn)
c.419G>T
c.1329G>T (p.Lys443Asn)
c.1233G>T (p.Lys411Asn)
c.840G>T (p.Lys280Asn)
c.1236G>T (p.Lys412Asn)
c.267G>T (p.Lys89Asn)
20g.63415069C>GCA409646752KCNQ2c.1305G>C (p.Lys435Asn)
c.1359G>C (p.Lys453Asn)
c.756G>C (p.Lys252Asn)
n.96G>C
c.1269G>C (p.Lys423Asn)
c.927G>C (p.Lys309Asn)
c.1275G>C (p.Lys425Asn)
c.1239G>C (p.Lys413Asn)
c.419G>C
c.1329G>C (p.Lys443Asn)
c.1233G>C (p.Lys411Asn)
c.840G>C (p.Lys280Asn)
c.1236G>C (p.Lys412Asn)
c.267G>C (p.Lys89Asn)
20g.63415069C>TCA511339791KCNQ2c.1305G>A (p.Lys435=)
c.1359G>A (p.Lys453=)
c.756G>A (p.Lys252=)
n.96G>A
c.1269G>A (p.Lys423=)
c.927G>A (p.Lys309=)
c.1275G>A (p.Lys425=)
c.1239G>A (p.Lys413=)
c.419G>A
c.1329G>A (p.Lys443=)
c.1233G>A (p.Lys411=)
c.840G>A (p.Lys280=)
c.1236G>A (p.Lys412=)
c.267G>A (p.Lys89=)
 COSMIC COSMIC COSMIC
20g.63415070T>ACA409646753KCNQ2c.1304A>T (p.Lys435Met)
c.1358A>T (p.Lys453Met)
c.755A>T (p.Lys252Met)
n.95A>T
c.1268A>T (p.Lys423Met)
c.926A>T (p.Lys309Met)
c.1274A>T (p.Lys425Met)
c.1238A>T (p.Lys413Met)
c.418A>T
c.1328A>T (p.Lys443Met)
c.1232A>T (p.Lys411Met)
c.839A>T (p.Lys280Met)
c.1235A>T (p.Lys412Met)
c.266A>T (p.Lys89Met)
20g.63415070T>CCA409646754KCNQ2c.1304A>G (p.Lys435Arg)
c.1358A>G (p.Lys453Arg)
c.755A>G (p.Lys252Arg)
n.95A>G
c.1268A>G (p.Lys423Arg)
c.926A>G (p.Lys309Arg)
c.1274A>G (p.Lys425Arg)
c.1238A>G (p.Lys413Arg)
c.418A>G
c.1328A>G (p.Lys443Arg)
c.1232A>G (p.Lys411Arg)
c.839A>G (p.Lys280Arg)
c.1235A>G (p.Lys412Arg)
c.266A>G (p.Lys89Arg)
20g.63415070T>GCA409646755KCNQ2c.1304A>C (p.Lys435Thr)
c.1358A>C (p.Lys453Thr)
c.755A>C (p.Lys252Thr)
n.95A>C
c.1268A>C (p.Lys423Thr)
c.926A>C (p.Lys309Thr)
c.1274A>C (p.Lys425Thr)
c.1238A>C (p.Lys413Thr)
c.418A>C
c.1328A>C (p.Lys443Thr)
c.1232A>C (p.Lys411Thr)
c.839A>C (p.Lys280Thr)
c.1235A>C (p.Lys412Thr)
c.266A>C (p.Lys89Thr)
 gnomAD v4
20g.63415071T>ACA409646758KCNQ2c.1303A>T (p.Lys435Ter)
c.1357A>T (p.Lys453Ter)
c.754A>T (p.Lys252Ter)
n.94A>T
c.1267A>T (p.Lys423Ter)
c.925A>T (p.Lys309Ter)
c.1273A>T (p.Lys425Ter)
c.1237A>T (p.Lys413Ter)
c.417A>T
c.1327A>T (p.Lys443Ter)
c.1231A>T (p.Lys411Ter)
c.838A>T (p.Lys280Ter)
c.1234A>T (p.Lys412Ter)
c.265A>T (p.Lys89Ter)
20g.63415071T>CCA409646757KCNQ2c.1303A>G (p.Lys435Glu)
c.1357A>G (p.Lys453Glu)
c.754A>G (p.Lys252Glu)
n.94A>G
c.1267A>G (p.Lys423Glu)
c.925A>G (p.Lys309Glu)
c.1273A>G (p.Lys425Glu)
c.1237A>G (p.Lys413Glu)
c.417A>G
c.1327A>G (p.Lys443Glu)
c.1231A>G (p.Lys411Glu)
c.838A>G (p.Lys280Glu)
c.1234A>G (p.Lys412Glu)
c.265A>G (p.Lys89Glu)
20g.63415071T>GCA409646756KCNQ2c.1303A>C (p.Lys435Gln)
c.1357A>C (p.Lys453Gln)
c.754A>C (p.Lys252Gln)
n.94A>C
c.1267A>C (p.Lys423Gln)
c.925A>C (p.Lys309Gln)
c.1273A>C (p.Lys425Gln)
c.1237A>C (p.Lys413Gln)
c.417A>C
c.1327A>C (p.Lys443Gln)
c.1231A>C (p.Lys411Gln)
c.838A>C (p.Lys280Gln)
c.1234A>C (p.Lys412Gln)
c.265A>C (p.Lys89Gln)
 gnomAD v4
20g.63415071T=CA2374778842KCNQ2c.1303A= (p.Lys435=)
c.1357A= (p.Lys453=)
c.754A= (p.Lys252=)
n.94A=
c.1267A= (p.Lys423=)
c.925A= (p.Lys309=)
c.1273A= (p.Lys425=)
c.1237A= (p.Lys413=)
c.417A=
c.1327A= (p.Lys443=)
c.1231A= (p.Lys411=)
c.838A= (p.Lys280=)
c.1234A= (p.Lys412=)
c.265A= (p.Lys89=)
20g.63415072G>ACA511339793KCNQ2c.1302C>T (p.Ala434=)
c.1356C>T (p.Ala452=)
c.753C>T (p.Ala251=)
n.93C>T
c.1266C>T (p.Ala422=)
c.924C>T (p.Ala308=)
c.1272C>T (p.Ala424=)
c.1236C>T (p.Ala412=)
c.416C>T
c.1326C>T (p.Ala442=)
c.1230C>T (p.Ala410=)
c.837C>T (p.Ala279=)
c.1233C>T (p.Ala411=)
c.264C>T (p.Ala88=)
 ClinVar
20g.63415072G>CCA511339794KCNQ2c.1302C>G (p.Ala434=)
c.1356C>G (p.Ala452=)
c.753C>G (p.Ala251=)
n.93C>G
c.1266C>G (p.Ala422=)
c.924C>G (p.Ala308=)
c.1272C>G (p.Ala424=)
c.1236C>G (p.Ala412=)
c.416C>G
c.1326C>G (p.Ala442=)
c.1230C>G (p.Ala410=)
c.837C>G (p.Ala279=)
c.1233C>G (p.Ala411=)
c.264C>G (p.Ala88=)
20g.63415072G>TCA511339795KCNQ2c.1302C>A (p.Ala434=)
c.1356C>A (p.Ala452=)
c.753C>A (p.Ala251=)
n.93C>A
c.1266C>A (p.Ala422=)
c.924C>A (p.Ala308=)
c.1272C>A (p.Ala424=)
c.1236C>A (p.Ala412=)
c.416C>A
c.1326C>A (p.Ala442=)
c.1230C>A (p.Ala410=)
c.837C>A (p.Ala279=)
c.1233C>A (p.Ala411=)
c.264C>A (p.Ala88=)
20g.63415073dupCA1139666780KCNQ2c.1302dup (p.Lys435GlnfsTer?)
c.1356dup (p.Lys453GlnfsTer?)
c.753dup (p.Lys252GlnfsTer?)
n.93dup
c.1266dup (p.Lys423GlnfsTer?)
c.924dup (p.Lys309GlnfsTer?)
c.1272dup (p.Lys425GlnfsTer?)
c.1236dup (p.Lys413GlnfsTer?)
c.416dup
c.1326dup (p.Lys443GlnfsTer?)
c.1230dup (p.Lys411GlnfsTer?)
c.837dup (p.Lys280GlnfsTer?)
c.1233dup (p.Lys412GlnfsTer?)
c.264dup (p.Lys89GlnfsTer?)
 ClinVar dbSNP
20g.63415073G>ACA409646759KCNQ2c.1301C>T (p.Ala434Val)
c.1355C>T (p.Ala452Val)
c.752C>T (p.Ala251Val)
n.92C>T
c.1265C>T (p.Ala422Val)
c.923C>T (p.Ala308Val)
c.1271C>T (p.Ala424Val)
c.1235C>T (p.Ala412Val)
c.415C>T
c.1325C>T (p.Ala442Val)
c.1229C>T (p.Ala410Val)
c.836C>T (p.Ala279Val)
c.1232C>T (p.Ala411Val)
c.263C>T (p.Ala88Val)
 gnomAD v4
20g.63415073G>CCA409646761KCNQ2c.1301C>G (p.Ala434Gly)
c.1355C>G (p.Ala452Gly)
c.752C>G (p.Ala251Gly)
n.92C>G
c.1265C>G (p.Ala422Gly)
c.923C>G (p.Ala308Gly)
c.1271C>G (p.Ala424Gly)
c.1235C>G (p.Ala412Gly)
c.415C>G
c.1325C>G (p.Ala442Gly)
c.1229C>G (p.Ala410Gly)
c.836C>G (p.Ala279Gly)
c.1232C>G (p.Ala411Gly)
c.263C>G (p.Ala88Gly)
20g.63415073G>TCA409646760KCNQ2c.1301C>A (p.Ala434Asp)
c.1355C>A (p.Ala452Asp)
c.752C>A (p.Ala251Asp)
n.92C>A
c.1265C>A (p.Ala422Asp)
c.923C>A (p.Ala308Asp)
c.1271C>A (p.Ala424Asp)
c.1235C>A (p.Ala412Asp)
c.415C>A
c.1325C>A (p.Ala442Asp)
c.1229C>A (p.Ala410Asp)
c.836C>A (p.Ala279Asp)
c.1232C>A (p.Ala411Asp)
c.263C>A (p.Ala88Asp)
 gnomAD v4
20g.63415074C>ACA409646762KCNQ2c.1300G>T (p.Ala434Ser)
c.1354G>T (p.Ala452Ser)
c.751G>T (p.Ala251Ser)
n.91G>T
c.1264G>T (p.Ala422Ser)
c.922G>T (p.Ala308Ser)
c.1270G>T (p.Ala424Ser)
c.1234G>T (p.Ala412Ser)
c.414G>T
c.1324G>T (p.Ala442Ser)
c.1228G>T (p.Ala410Ser)
c.835G>T (p.Ala279Ser)
c.1231G>T (p.Ala411Ser)
c.262G>T (p.Ala88Ser)
20g.63415074C=CA2374778843KCNQ2c.1300G= (p.Ala434=)
c.1354G= (p.Ala452=)
c.751G= (p.Ala251=)
n.91G=
c.1264G= (p.Ala422=)
c.922G= (p.Ala308=)
c.1270G= (p.Ala424=)
c.1234G= (p.Ala412=)
c.414G=
c.1324G= (p.Ala442=)
c.1228G= (p.Ala410=)
c.835G= (p.Ala279=)
c.1231G= (p.Ala411=)
c.262G= (p.Ala88=)
20g.63415074C>GCA409646764KCNQ2c.1300G>C (p.Ala434Pro)
c.1354G>C (p.Ala452Pro)
c.751G>C (p.Ala251Pro)
n.91G>C
c.1264G>C (p.Ala422Pro)
c.922G>C (p.Ala308Pro)
c.1270G>C (p.Ala424Pro)
c.1234G>C (p.Ala412Pro)
c.414G>C
c.1324G>C (p.Ala442Pro)
c.1228G>C (p.Ala410Pro)
c.835G>C (p.Ala279Pro)
c.1231G>C (p.Ala411Pro)
c.262G>C (p.Ala88Pro)
20g.63415074C>TCA409646763KCNQ2c.1300G>A (p.Ala434Thr)
c.1354G>A (p.Ala452Thr)
c.751G>A (p.Ala251Thr)
n.91G>A
c.1264G>A (p.Ala422Thr)
c.922G>A (p.Ala308Thr)
c.1270G>A (p.Ala424Thr)
c.1234G>A (p.Ala412Thr)
c.414G>A
c.1324G>A (p.Ala442Thr)
c.1228G>A (p.Ala410Thr)
c.835G>A (p.Ala279Thr)
c.1231G>A (p.Ala411Thr)
c.262G>A (p.Ala88Thr)
 ClinVar dbSNP gnomAD v4
20g.63415075A>CCA511339568KCNQ2c.1299T>G (p.Ala433=)
c.1353T>G (p.Ala451=)
c.750T>G (p.Ala250=)
n.90T>G
c.1263T>G (p.Ala421=)
c.921T>G (p.Ala307=)
c.1269T>G (p.Ala423=)
c.1233T>G (p.Ala411=)
c.413T>G
c.1323T>G (p.Ala441=)
c.1227T>G (p.Ala409=)
c.834T>G (p.Ala278=)
c.1230T>G (p.Ala410=)
c.261T>G (p.Ala87=)
20g.63415075A>GCA511339569KCNQ2c.1299T>C (p.Ala433=)
c.1353T>C (p.Ala451=)
c.750T>C (p.Ala250=)
n.90T>C
c.1263T>C (p.Ala421=)
c.921T>C (p.Ala307=)
c.1269T>C (p.Ala423=)
c.1233T>C (p.Ala411=)
c.413T>C
c.1323T>C (p.Ala441=)
c.1227T>C (p.Ala409=)
c.834T>C (p.Ala278=)
c.1230T>C (p.Ala410=)
c.261T>C (p.Ala87=)
20g.63415075A>TCA511339570KCNQ2c.1299T>A (p.Ala433=)
c.1353T>A (p.Ala451=)
c.750T>A (p.Ala250=)
n.90T>A
c.1263T>A (p.Ala421=)
c.921T>A (p.Ala307=)
c.1269T>A (p.Ala423=)
c.1233T>A (p.Ala411=)
c.413T>A
c.1323T>A (p.Ala441=)
c.1227T>A (p.Ala409=)
c.834T>A (p.Ala278=)
c.1230T>A (p.Ala410=)
c.261T>A (p.Ala87=)
20g.63415076G>ACA9958466KCNQ2c.1298C>T (p.Ala433Val)
c.1352C>T (p.Ala451Val)
c.749C>T (p.Ala250Val)
n.89C>T
c.1262C>T (p.Ala421Val)
c.920C>T (p.Ala307Val)
c.1268C>T (p.Ala423Val)
c.1232C>T (p.Ala411Val)
c.412C>T
c.1322C>T (p.Ala441Val)
c.1226C>T (p.Ala409Val)
c.833C>T (p.Ala278Val)
c.1229C>T (p.Ala410Val)
c.260C>T (p.Ala87Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415076G>CCA409646766KCNQ2c.1298C>G (p.Ala433Gly)
c.1352C>G (p.Ala451Gly)
c.749C>G (p.Ala250Gly)
n.89C>G
c.1262C>G (p.Ala421Gly)
c.920C>G (p.Ala307Gly)
c.1268C>G (p.Ala423Gly)
c.1232C>G (p.Ala411Gly)
c.412C>G
c.1322C>G (p.Ala441Gly)
c.1226C>G (p.Ala409Gly)
c.833C>G (p.Ala278Gly)
c.1229C>G (p.Ala410Gly)
c.260C>G (p.Ala87Gly)
20g.63415076G=CA2374778844KCNQ2c.1298C= (p.Ala433=)
c.1352C= (p.Ala451=)
c.749C= (p.Ala250=)
n.89C=
c.1262C= (p.Ala421=)
c.920C= (p.Ala307=)
c.1268C= (p.Ala423=)
c.1232C= (p.Ala411=)
c.412C=
c.1322C= (p.Ala441=)
c.1226C= (p.Ala409=)
c.833C= (p.Ala278=)
c.1229C= (p.Ala410=)
c.260C= (p.Ala87=)
20g.63415076G>TCA409646765KCNQ2c.1298C>A (p.Ala433Asp)
c.1352C>A (p.Ala451Asp)
c.749C>A (p.Ala250Asp)
n.89C>A
c.1262C>A (p.Ala421Asp)
c.920C>A (p.Ala307Asp)
c.1268C>A (p.Ala423Asp)
c.1232C>A (p.Ala411Asp)
c.412C>A
c.1322C>A (p.Ala441Asp)
c.1226C>A (p.Ala409Asp)
c.833C>A (p.Ala278Asp)
c.1229C>A (p.Ala410Asp)
c.260C>A (p.Ala87Asp)
 gnomAD v4
20g.63415077C>ACA409646767KCNQ2c.1297G>T (p.Ala433Ser)
c.1351G>T (p.Ala451Ser)
c.748G>T (p.Ala250Ser)
n.88G>T
c.1261G>T (p.Ala421Ser)
c.919G>T (p.Ala307Ser)
c.1267G>T (p.Ala423Ser)
c.1231G>T (p.Ala411Ser)
c.411G>T
c.1321G>T (p.Ala441Ser)
c.1225G>T (p.Ala409Ser)
c.832G>T (p.Ala278Ser)
c.1228G>T (p.Ala410Ser)
c.259G>T (p.Ala87Ser)
20g.63415077C>GCA409646769KCNQ2c.1297G>C (p.Ala433Pro)
c.1351G>C (p.Ala451Pro)
c.748G>C (p.Ala250Pro)
n.88G>C
c.1261G>C (p.Ala421Pro)
c.919G>C (p.Ala307Pro)
c.1267G>C (p.Ala423Pro)
c.1231G>C (p.Ala411Pro)
c.411G>C
c.1321G>C (p.Ala441Pro)
c.1225G>C (p.Ala409Pro)
c.832G>C (p.Ala278Pro)
c.1228G>C (p.Ala410Pro)
c.259G>C (p.Ala87Pro)
20g.63415077C>TCA409646768KCNQ2c.1297G>A (p.Ala433Thr)
c.1351G>A (p.Ala451Thr)
c.748G>A (p.Ala250Thr)
n.88G>A
c.1261G>A (p.Ala421Thr)
c.919G>A (p.Ala307Thr)
c.1267G>A (p.Ala423Thr)
c.1231G>A (p.Ala411Thr)
c.411G>A
c.1321G>A (p.Ala441Thr)
c.1225G>A (p.Ala409Thr)
c.832G>A (p.Ala278Thr)
c.1228G>A (p.Ala410Thr)
c.259G>A (p.Ala87Thr)
 gnomAD v4
20g.63415078C>ACA511339574KCNQ2c.1296G>T (p.Val432=)
c.1350G>T (p.Val450=)
c.747G>T (p.Val249=)
n.87G>T
c.1260G>T (p.Val420=)
c.918G>T (p.Val306=)
c.1266G>T (p.Val422=)
c.1230G>T (p.Val410=)
c.410G>T
c.1320G>T (p.Val440=)
c.1224G>T (p.Val408=)
c.831G>T (p.Val277=)
c.1227G>T (p.Val409=)
c.258G>T (p.Val86=)
20g.63415078C>GCA511339575KCNQ2c.1296G>C (p.Val432=)
c.1350G>C (p.Val450=)
c.747G>C (p.Val249=)
n.87G>C
c.1260G>C (p.Val420=)
c.918G>C (p.Val306=)
c.1266G>C (p.Val422=)
c.1230G>C (p.Val410=)
c.410G>C
c.1320G>C (p.Val440=)
c.1224G>C (p.Val408=)
c.831G>C (p.Val277=)
c.1227G>C (p.Val409=)
c.258G>C (p.Val86=)
20g.63415078C>TCA511339576KCNQ2c.1296G>A (p.Val432=)
c.1350G>A (p.Val450=)
c.747G>A (p.Val249=)
n.87G>A
c.1260G>A (p.Val420=)
c.918G>A (p.Val306=)
c.1266G>A (p.Val422=)
c.1230G>A (p.Val410=)
c.410G>A
c.1320G>A (p.Val440=)
c.1224G>A (p.Val408=)
c.831G>A (p.Val277=)
c.1227G>A (p.Val409=)
c.258G>A (p.Val86=)
20g.63415082_63415104delCA2580098422KCNQ2c.1274_1296del (p.Val425GlyfsTer?)
c.1328_1350del (p.Val443GlyfsTer?)
c.725_747del (p.Val242GlyfsTer?)
n.75-10_87del
c.1248-10_1260del
c.906-10_918del
c.1244_1266del (p.Val415GlyfsTer?)
c.1218-10_1230del
c.388_410del
c.1298_1320del (p.Val433GlyfsTer?)
c.1202_1224del (p.Val401GlyfsTer?)
c.809_831del (p.Val270GlyfsTer?)
c.1205_1227del (p.Val402GlyfsTer?)
c.236_258del (p.Val79GlyfsTer?)
 ClinVar
20g.63415079A>CCA409646770KCNQ2c.1295T>G (p.Val432Gly)
c.1349T>G (p.Val450Gly)
c.746T>G (p.Val249Gly)
n.86T>G
c.1259T>G (p.Val420Gly)
c.917T>G (p.Val306Gly)
c.1265T>G (p.Val422Gly)
c.1229T>G (p.Val410Gly)
c.409T>G
c.1319T>G (p.Val440Gly)
c.1223T>G (p.Val408Gly)
c.830T>G (p.Val277Gly)
c.1226T>G (p.Val409Gly)
c.257T>G (p.Val86Gly)
20g.63415079A>GCA409646771KCNQ2c.1295T>C (p.Val432Ala)
c.1349T>C (p.Val450Ala)
c.746T>C (p.Val249Ala)
n.86T>C
c.1259T>C (p.Val420Ala)
c.917T>C (p.Val306Ala)
c.1265T>C (p.Val422Ala)
c.1229T>C (p.Val410Ala)
c.409T>C
c.1319T>C (p.Val440Ala)
c.1223T>C (p.Val408Ala)
c.830T>C (p.Val277Ala)
c.1226T>C (p.Val409Ala)
c.257T>C (p.Val86Ala)
20g.63415079A>TCA409646772KCNQ2c.1295T>A (p.Val432Glu)
c.1349T>A (p.Val450Glu)
c.746T>A (p.Val249Glu)
n.86T>A
c.1259T>A (p.Val420Glu)
c.917T>A (p.Val306Glu)
c.1265T>A (p.Val422Glu)
c.1229T>A (p.Val410Glu)
c.409T>A
c.1319T>A (p.Val440Glu)
c.1223T>A (p.Val408Glu)
c.830T>A (p.Val277Glu)
c.1226T>A (p.Val409Glu)
c.257T>A (p.Val86Glu)
20g.63415080C>ACA409646773KCNQ2c.1294G>T (p.Val432Leu)
c.1348G>T (p.Val450Leu)
c.745G>T (p.Val249Leu)
n.85G>T
c.1258G>T (p.Val420Leu)
c.916G>T (p.Val306Leu)
c.1264G>T (p.Val422Leu)
c.1228G>T (p.Val410Leu)
c.408G>T
c.1318G>T (p.Val440Leu)
c.1222G>T (p.Val408Leu)
c.829G>T (p.Val277Leu)
c.1225G>T (p.Val409Leu)
c.256G>T (p.Val86Leu)
20g.63415080C=CA2374778845KCNQ2c.1294G= (p.Val432=)
c.1348G= (p.Val450=)
c.745G= (p.Val249=)
n.85G=
c.1258G= (p.Val420=)
c.916G= (p.Val306=)
c.1264G= (p.Val422=)
c.1228G= (p.Val410=)
c.408G=
c.1318G= (p.Val440=)
c.1222G= (p.Val408=)
c.829G= (p.Val277=)
c.1225G= (p.Val409=)
c.256G= (p.Val86=)
20g.63415080C>GCA409646774KCNQ2c.1294G>C (p.Val432Leu)
c.1348G>C (p.Val450Leu)
c.745G>C (p.Val249Leu)
n.85G>C
c.1258G>C (p.Val420Leu)
c.916G>C (p.Val306Leu)
c.1264G>C (p.Val422Leu)
c.1228G>C (p.Val410Leu)
c.408G>C
c.1318G>C (p.Val440Leu)
c.1222G>C (p.Val408Leu)
c.829G>C (p.Val277Leu)
c.1225G>C (p.Val409Leu)
c.256G>C (p.Val86Leu)
20g.63415080C>TCA288922KCNQ2c.1294G>A (p.Val432Met)
c.1348G>A (p.Val450Met)
c.745G>A (p.Val249Met)
n.85G>A
c.1258G>A (p.Val420Met)
c.916G>A (p.Val306Met)
c.1264G>A (p.Val422Met)
c.1228G>A (p.Val410Met)
c.408G>A
c.1318G>A (p.Val440Met)
c.1222G>A (p.Val408Met)
c.829G>A (p.Val277Met)
c.1225G>A (p.Val409Met)
c.256G>A (p.Val86Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415081G>ACA9958468KCNQ2c.1293C>T (p.Gly431=)
c.1347C>T (p.Gly449=)
c.744C>T (p.Gly248=)
n.84C>T
c.1257C>T (p.Gly419=)
c.915C>T (p.Gly305=)
c.1263C>T (p.Gly421=)
c.1227C>T (p.Gly409=)
c.407C>T
c.1317C>T (p.Gly439=)
c.1221C>T (p.Gly407=)
c.828C>T (p.Gly276=)
c.1224C>T (p.Gly408=)
c.255C>T (p.Gly85=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415081G>CCA511339577KCNQ2c.1293C>G (p.Gly431=)
c.1347C>G (p.Gly449=)
c.744C>G (p.Gly248=)
n.84C>G
c.1257C>G (p.Gly419=)
c.915C>G (p.Gly305=)
c.1263C>G (p.Gly421=)
c.1227C>G (p.Gly409=)
c.407C>G
c.1317C>G (p.Gly439=)
c.1221C>G (p.Gly407=)
c.828C>G (p.Gly276=)
c.1224C>G (p.Gly408=)
c.255C>G (p.Gly85=)
20g.63415081G=CA2374778846KCNQ2c.1293C= (p.Gly431=)
c.1347C= (p.Gly449=)
c.744C= (p.Gly248=)
n.84C=
c.1257C= (p.Gly419=)
c.915C= (p.Gly305=)
c.1263C= (p.Gly421=)
c.1227C= (p.Gly409=)
c.407C=
c.1317C= (p.Gly439=)
c.1221C= (p.Gly407=)
c.828C= (p.Gly276=)
c.1224C= (p.Gly408=)
c.255C= (p.Gly85=)
20g.63415081G>TCA9958467KCNQ2c.1293C>A (p.Gly431=)
c.1347C>A (p.Gly449=)
c.744C>A (p.Gly248=)
n.84C>A
c.1257C>A (p.Gly419=)
c.915C>A (p.Gly305=)
c.1263C>A (p.Gly421=)
c.1227C>A (p.Gly409=)
c.407C>A
c.1317C>A (p.Gly439=)
c.1221C>A (p.Gly407=)
c.828C>A (p.Gly276=)
c.1224C>A (p.Gly408=)
c.255C>A (p.Gly85=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415082C>ACA409646775KCNQ2c.1292G>T (p.Gly431Val)
c.1346G>T (p.Gly449Val)
c.743G>T (p.Gly248Val)
n.83G>T
c.1256G>T (p.Gly419Val)
c.914G>T (p.Gly305Val)
c.1262G>T (p.Gly421Val)
c.1226G>T (p.Gly409Val)
c.406G>T
c.1316G>T (p.Gly439Val)
c.1220G>T (p.Gly407Val)
c.827G>T (p.Gly276Val)
c.1223G>T (p.Gly408Val)
c.254G>T (p.Gly85Val)
20g.63415082C>GCA409646776KCNQ2c.1292G>C (p.Gly431Ala)
c.1346G>C (p.Gly449Ala)
c.743G>C (p.Gly248Ala)
n.83G>C
c.1256G>C (p.Gly419Ala)
c.914G>C (p.Gly305Ala)
c.1262G>C (p.Gly421Ala)
c.1226G>C (p.Gly409Ala)
c.406G>C
c.1316G>C (p.Gly439Ala)
c.1220G>C (p.Gly407Ala)
c.827G>C (p.Gly276Ala)
c.1223G>C (p.Gly408Ala)
c.254G>C (p.Gly85Ala)
20g.63415082C>TCA409646777KCNQ2c.1292G>A (p.Gly431Asp)
c.1346G>A (p.Gly449Asp)
c.743G>A (p.Gly248Asp)
n.83G>A
c.1256G>A (p.Gly419Asp)
c.914G>A (p.Gly305Asp)
c.1262G>A (p.Gly421Asp)
c.1226G>A (p.Gly409Asp)
c.406G>A
c.1316G>A (p.Gly439Asp)
c.1220G>A (p.Gly407Asp)
c.827G>A (p.Gly276Asp)
c.1223G>A (p.Gly408Asp)
c.254G>A (p.Gly85Asp)
20g.63415083C>ACA409646779KCNQ2c.1291G>T (p.Gly431Cys)
c.1345G>T (p.Gly449Cys)
c.742G>T (p.Gly248Cys)
n.82G>T
c.1255G>T (p.Gly419Cys)
c.913G>T (p.Gly305Cys)
c.1261G>T (p.Gly421Cys)
c.1225G>T (p.Gly409Cys)
c.405G>T
c.1315G>T (p.Gly439Cys)
c.1219G>T (p.Gly407Cys)
c.826G>T (p.Gly276Cys)
c.1222G>T (p.Gly408Cys)
c.253G>T (p.Gly85Cys)
20g.63415083C=CA2374778847KCNQ2c.1291G= (p.Gly431=)
c.1345G= (p.Gly449=)
c.742G= (p.Gly248=)
n.82G=
c.1255G= (p.Gly419=)
c.913G= (p.Gly305=)
c.1261G= (p.Gly421=)
c.1225G= (p.Gly409=)
c.405G=
c.1315G= (p.Gly439=)
c.1219G= (p.Gly407=)
c.826G= (p.Gly276=)
c.1222G= (p.Gly408=)
c.253G= (p.Gly85=)
20g.63415083C>GCA409646778KCNQ2c.1291G>C (p.Gly431Arg)
c.1345G>C (p.Gly449Arg)
c.742G>C (p.Gly248Arg)
n.82G>C
c.1255G>C (p.Gly419Arg)
c.913G>C (p.Gly305Arg)
c.1261G>C (p.Gly421Arg)
c.1225G>C (p.Gly409Arg)
c.405G>C
c.1315G>C (p.Gly439Arg)
c.1219G>C (p.Gly407Arg)
c.826G>C (p.Gly276Arg)
c.1222G>C (p.Gly408Arg)
c.253G>C (p.Gly85Arg)
20g.63415083C>TCA9958469KCNQ2c.1291G>A (p.Gly431Ser)
c.1345G>A (p.Gly449Ser)
c.742G>A (p.Gly248Ser)
n.82G>A
c.1255G>A (p.Gly419Ser)
c.913G>A (p.Gly305Ser)
c.1261G>A (p.Gly421Ser)
c.1225G>A (p.Gly409Ser)
c.405G>A
c.1315G>A (p.Gly439Ser)
c.1219G>A (p.Gly407Ser)
c.826G>A (p.Gly276Ser)
c.1222G>A (p.Gly408Ser)
c.253G>A (p.Gly85Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415084T>ACA511339584KCNQ2c.1290A>T (p.Arg430=)
c.1344A>T (p.Arg448=)
c.741A>T (p.Arg247=)
n.81A>T
c.1254A>T (p.Arg418=)
c.912A>T (p.Arg304=)
c.1260A>T (p.Arg420=)
c.1224A>T (p.Arg408=)
c.404A>T
c.1314A>T (p.Arg438=)
c.1218A>T (p.Arg406=)
c.825A>T (p.Arg275=)
c.1221A>T (p.Arg407=)
c.252A>T (p.Arg84=)
20g.63415084T>CCA511339581KCNQ2c.1290A>G (p.Arg430=)
c.1344A>G (p.Arg448=)
c.741A>G (p.Arg247=)
n.81A>G
c.1254A>G (p.Arg418=)
c.912A>G (p.Arg304=)
c.1260A>G (p.Arg420=)
c.1224A>G (p.Arg408=)
c.404A>G
c.1314A>G (p.Arg438=)
c.1218A>G (p.Arg406=)
c.825A>G (p.Arg275=)
c.1221A>G (p.Arg407=)
c.252A>G (p.Arg84=)
20g.63415084T>GCA511339582KCNQ2c.1290A>C (p.Arg430=)
c.1344A>C (p.Arg448=)
c.741A>C (p.Arg247=)
n.81A>C
c.1254A>C (p.Arg418=)
c.912A>C (p.Arg304=)
c.1260A>C (p.Arg420=)
c.1224A>C (p.Arg408=)
c.404A>C
c.1314A>C (p.Arg438=)
c.1218A>C (p.Arg406=)
c.825A>C (p.Arg275=)
c.1221A>C (p.Arg407=)
c.252A>C (p.Arg84=)
20g.63415085C>ACA409646780KCNQ2c.1289G>T (p.Arg430Leu)
c.1343G>T (p.Arg448Leu)
c.740G>T (p.Arg247Leu)
n.80G>T
c.1253G>T (p.Arg418Leu)
c.911G>T (p.Arg304Leu)
c.1259G>T (p.Arg420Leu)
c.1223G>T (p.Arg408Leu)
c.403G>T
c.1313G>T (p.Arg438Leu)
c.1217G>T (p.Arg406Leu)
c.824G>T (p.Arg275Leu)
c.1220G>T (p.Arg407Leu)
c.251G>T (p.Arg84Leu)
 gnomAD v4
20g.63415085C=CA2374778848KCNQ2c.1289G= (p.Arg430=)
c.1343G= (p.Arg448=)
c.740G= (p.Arg247=)
n.80G=
c.1253G= (p.Arg418=)
c.911G= (p.Arg304=)
c.1259G= (p.Arg420=)
c.1223G= (p.Arg408=)
c.403G=
c.1313G= (p.Arg438=)
c.1217G= (p.Arg406=)
c.824G= (p.Arg275=)
c.1220G= (p.Arg407=)
c.251G= (p.Arg84=)
20g.63415085C>GCA409646781KCNQ2c.1289G>C (p.Arg430Pro)
c.1343G>C (p.Arg448Pro)
c.740G>C (p.Arg247Pro)
n.80G>C
c.1253G>C (p.Arg418Pro)
c.911G>C (p.Arg304Pro)
c.1259G>C (p.Arg420Pro)
c.1223G>C (p.Arg408Pro)
c.403G>C
c.1313G>C (p.Arg438Pro)
c.1217G>C (p.Arg406Pro)
c.824G>C (p.Arg275Pro)
c.1220G>C (p.Arg407Pro)
c.251G>C (p.Arg84Pro)
20g.63415085C>TCA9958470KCNQ2c.1289G>A (p.Arg430Gln)
c.1343G>A (p.Arg448Gln)
c.740G>A (p.Arg247Gln)
n.80G>A
c.1253G>A (p.Arg418Gln)
c.911G>A (p.Arg304Gln)
c.1259G>A (p.Arg420Gln)
c.1223G>A (p.Arg408Gln)
c.403G>A
c.1313G>A (p.Arg438Gln)
c.1217G>A (p.Arg406Gln)
c.824G>A (p.Arg275Gln)
c.1220G>A (p.Arg407Gln)
c.251G>A (p.Arg84Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415086G>ACA315443KCNQ2c.1288C>T (p.Arg430Ter)
c.1342C>T (p.Arg448Ter)
c.739C>T (p.Arg247Ter)
n.79C>T
c.1252C>T (p.Arg418Ter)
c.910C>T (p.Arg304Ter)
c.1258C>T (p.Arg420Ter)
c.1222C>T (p.Arg408Ter)
c.402C>T
c.1312C>T (p.Arg438Ter)
c.1216C>T (p.Arg406Ter)
c.823C>T (p.Arg275Ter)
c.1219C>T (p.Arg407Ter)
c.250C>T (p.Arg84Ter)
 ClinVar dbSNP gnomAD v4
20g.63415086G>CCA409646782KCNQ2c.1288C>G (p.Arg430Gly)
c.1342C>G (p.Arg448Gly)
c.739C>G (p.Arg247Gly)
n.79C>G
c.1252C>G (p.Arg418Gly)
c.910C>G (p.Arg304Gly)
c.1258C>G (p.Arg420Gly)
c.1222C>G (p.Arg408Gly)
c.402C>G
c.1312C>G (p.Arg438Gly)
c.1216C>G (p.Arg406Gly)
c.823C>G (p.Arg275Gly)
c.1219C>G (p.Arg407Gly)
c.250C>G (p.Arg84Gly)
20g.63415086G=CA2374778849KCNQ2c.1288C= (p.Arg430=)
c.1342C= (p.Arg448=)
c.739C= (p.Arg247=)
n.79C=
c.1252C= (p.Arg418=)
c.910C= (p.Arg304=)
c.1258C= (p.Arg420=)
c.1222C= (p.Arg408=)
c.402C=
c.1312C= (p.Arg438=)
c.1216C= (p.Arg406=)
c.823C= (p.Arg275=)
c.1219C= (p.Arg407=)
c.250C= (p.Arg84=)
20g.63415086G>TCA511339585KCNQ2c.1288C>A (p.Arg430=)
c.1342C>A (p.Arg448=)
c.739C>A (p.Arg247=)
n.79C>A
c.1252C>A (p.Arg418=)
c.910C>A (p.Arg304=)
c.1258C>A (p.Arg420=)
c.1222C>A (p.Arg408=)
c.402C>A
c.1312C>A (p.Arg438=)
c.1216C>A (p.Arg406=)
c.823C>A (p.Arg275=)
c.1219C>A (p.Arg407=)
c.250C>A (p.Arg84=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415090delCA2573157183KCNQ2c.1288del (p.Arg430GlufsTer16)
c.1342del (p.Arg448GlufsTer16)
c.739del (p.Arg247GlufsTer16)
n.79del
c.1252del (p.Arg418GlufsTer16)
c.910del (p.Arg304GlufsTer16)
c.1258del (p.Arg420GlufsTer16)
c.1222del (p.Arg408GlufsTer16)
c.402del
c.1312del (p.Arg438GlufsTer16)
c.1216del (p.Arg406GlufsTer16)
c.823del (p.Arg275GlufsTer16)
c.1219del (p.Arg407GlufsTer16)
c.250del (p.Arg84GlufsTer16)
 ClinVar dbSNP gnomAD v4
20g.63415087G>ACA511339588KCNQ2c.1287C>T (p.Pro429=)
c.1341C>T (p.Pro447=)
c.738C>T (p.Pro246=)
n.78C>T
c.1251C>T (p.Pro417=)
c.909C>T (p.Pro303=)
c.1257C>T (p.Pro419=)
c.1221C>T (p.Pro407=)
c.401C>T
c.1311C>T (p.Pro437=)
c.1215C>T (p.Pro405=)
c.822C>T (p.Pro274=)
c.1218C>T (p.Pro406=)
c.249C>T (p.Pro83=)
 dbSNP gnomAD v2
20g.63415087G>CCA511339587KCNQ2c.1287C>G (p.Pro429=)
c.1341C>G (p.Pro447=)
c.738C>G (p.Pro246=)
n.78C>G
c.1251C>G (p.Pro417=)
c.909C>G (p.Pro303=)
c.1257C>G (p.Pro419=)
c.1221C>G (p.Pro407=)
c.401C>G
c.1311C>G (p.Pro437=)
c.1215C>G (p.Pro405=)
c.822C>G (p.Pro274=)
c.1218C>G (p.Pro406=)
c.249C>G (p.Pro83=)
20g.63415087G=CA2374778850KCNQ2c.1287C= (p.Pro429=)
c.1341C= (p.Pro447=)
c.738C= (p.Pro246=)
n.78C=
c.1251C= (p.Pro417=)
c.909C= (p.Pro303=)
c.1257C= (p.Pro419=)
c.1221C= (p.Pro407=)
c.401C=
c.1311C= (p.Pro437=)
c.1215C= (p.Pro405=)
c.822C= (p.Pro274=)
c.1218C= (p.Pro406=)
c.249C= (p.Pro83=)
20g.63415087G>TCA511339586KCNQ2c.1287C>A (p.Pro429=)
c.1341C>A (p.Pro447=)
c.738C>A (p.Pro246=)
n.78C>A
c.1251C>A (p.Pro417=)
c.909C>A (p.Pro303=)
c.1257C>A (p.Pro419=)
c.1221C>A (p.Pro407=)
c.401C>A
c.1311C>A (p.Pro437=)
c.1215C>A (p.Pro405=)
c.822C>A (p.Pro274=)
c.1218C>A (p.Pro406=)
c.249C>A (p.Pro83=)
20g.63415088G>ACA409646783KCNQ2c.1286C>T (p.Pro429Leu)
c.1340C>T (p.Pro447Leu)
c.737C>T (p.Pro246Leu)
n.77C>T
c.1250C>T (p.Pro417Leu)
c.908C>T (p.Pro303Leu)
c.1256C>T (p.Pro419Leu)
c.1220C>T (p.Pro407Leu)
c.400C>T
c.1310C>T (p.Pro437Leu)
c.1214C>T (p.Pro405Leu)
c.821C>T (p.Pro274Leu)
c.1217C>T (p.Pro406Leu)
c.248C>T (p.Pro83Leu)
20g.63415088G>CCA409646784KCNQ2c.1286C>G (p.Pro429Arg)
c.1340C>G (p.Pro447Arg)
c.737C>G (p.Pro246Arg)
n.77C>G
c.1250C>G (p.Pro417Arg)
c.908C>G (p.Pro303Arg)
c.1256C>G (p.Pro419Arg)
c.1220C>G (p.Pro407Arg)
c.400C>G
c.1310C>G (p.Pro437Arg)
c.1214C>G (p.Pro405Arg)
c.821C>G (p.Pro274Arg)
c.1217C>G (p.Pro406Arg)
c.248C>G (p.Pro83Arg)
20g.63415088G>TCA409646785KCNQ2c.1286C>A (p.Pro429His)
c.1340C>A (p.Pro447His)
c.737C>A (p.Pro246His)
n.77C>A
c.1250C>A (p.Pro417His)
c.908C>A (p.Pro303His)
c.1256C>A (p.Pro419His)
c.1220C>A (p.Pro407His)
c.400C>A
c.1310C>A (p.Pro437His)
c.1214C>A (p.Pro405His)
c.821C>A (p.Pro274His)
c.1217C>A (p.Pro406His)
c.248C>A (p.Pro83His)
 gnomAD v4
20g.63415089G>ACA409646786KCNQ2c.1285C>T (p.Pro429Ser)
c.1339C>T (p.Pro447Ser)
c.736C>T (p.Pro246Ser)
n.76C>T
c.1249C>T (p.Pro417Ser)
c.907C>T (p.Pro303Ser)
c.1255C>T (p.Pro419Ser)
c.1219C>T (p.Pro407Ser)
c.399C>T
c.1309C>T (p.Pro437Ser)
c.1213C>T (p.Pro405Ser)
c.820C>T (p.Pro274Ser)
c.1216C>T (p.Pro406Ser)
c.247C>T (p.Pro83Ser)
 gnomAD v4
20g.63415089G>CCA9958471KCNQ2c.1285C>G (p.Pro429Ala)
c.1339C>G (p.Pro447Ala)
c.736C>G (p.Pro246Ala)
n.76C>G
c.1249C>G (p.Pro417Ala)
c.907C>G (p.Pro303Ala)
c.1255C>G (p.Pro419Ala)
c.1219C>G (p.Pro407Ala)
c.399C>G
c.1309C>G (p.Pro437Ala)
c.1213C>G (p.Pro405Ala)
c.820C>G (p.Pro274Ala)
c.1216C>G (p.Pro406Ala)
c.247C>G (p.Pro83Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415089G=CA2374778851KCNQ2c.1285C= (p.Pro429=)
c.1339C= (p.Pro447=)
c.736C= (p.Pro246=)
n.76C=
c.1249C= (p.Pro417=)
c.907C= (p.Pro303=)
c.1255C= (p.Pro419=)
c.1219C= (p.Pro407=)
c.399C=
c.1309C= (p.Pro437=)
c.1213C= (p.Pro405=)
c.820C= (p.Pro274=)
c.1216C= (p.Pro406=)
c.247C= (p.Pro83=)
20g.63415089G>TCA409646787KCNQ2c.1285C>A (p.Pro429Thr)
c.1339C>A (p.Pro447Thr)
c.736C>A (p.Pro246Thr)
n.76C>A
c.1249C>A (p.Pro417Thr)
c.907C>A (p.Pro303Thr)
c.1255C>A (p.Pro419Thr)
c.1219C>A (p.Pro407Thr)
c.399C>A
c.1309C>A (p.Pro437Thr)
c.1213C>A (p.Pro405Thr)
c.820C>A (p.Pro274Thr)
c.1216C>A (p.Pro406Thr)
c.247C>A (p.Pro83Thr)
 gnomAD v4
20g.63415090G>ACA511339591KCNQ2c.1284C>T (p.Ser428=)
c.1338C>T (p.Ser446=)
c.735C>T (p.Ser245=)
n.75C>T
c.1248C>T (p.Ser416=)
c.906C>T (p.Ser302=)
c.1254C>T (p.Ser418=)
c.1218C>T (p.Ser406=)
c.398C>T
c.1308C>T (p.Ser436=)
c.1212C>T (p.Ser404=)
c.819C>T (p.Ser273=)
c.1215C>T (p.Ser405=)
c.246C>T (p.Ser82=)
 dbSNP gnomAD v2 gnomAD v4
20g.63415090G>CCA409646788KCNQ2c.1284C>G (p.Ser428Arg)
c.1338C>G (p.Ser446Arg)
c.735C>G (p.Ser245Arg)
n.75C>G
c.1248C>G (p.Ser416Arg)
c.906C>G (p.Ser302Arg)
c.1254C>G (p.Ser418Arg)
c.1218C>G (p.Ser406Arg)
c.398C>G
c.1308C>G (p.Ser436Arg)
c.1212C>G (p.Ser404Arg)
c.819C>G (p.Ser273Arg)
c.1215C>G (p.Ser405Arg)
c.246C>G (p.Ser82Arg)
20g.63415090G=CA2374778852KCNQ2c.1284C= (p.Ser428=)
c.1338C= (p.Ser446=)
c.735C= (p.Ser245=)
n.75C=
c.1248C= (p.Ser416=)
c.906C= (p.Ser302=)
c.1254C= (p.Ser418=)
c.1218C= (p.Ser406=)
c.398C=
c.1308C= (p.Ser436=)
c.1212C= (p.Ser404=)
c.819C= (p.Ser273=)
c.1215C= (p.Ser405=)
c.246C= (p.Ser82=)
20g.63415090G>TCA409646789KCNQ2c.1284C>A (p.Ser428Arg)
c.1338C>A (p.Ser446Arg)
c.735C>A (p.Ser245Arg)
n.75C>A
c.1248C>A (p.Ser416Arg)
c.906C>A (p.Ser302Arg)
c.1254C>A (p.Ser418Arg)
c.1218C>A (p.Ser406Arg)
c.398C>A
c.1308C>A (p.Ser436Arg)
c.1212C>A (p.Ser404Arg)
c.819C>A (p.Ser273Arg)
c.1215C>A (p.Ser405Arg)
c.246C>A (p.Ser82Arg)
 gnomAD v4
20g.63415091C>ACA409646790KCNQ2c.1283G>T (p.Ser428Ile)
c.1337G>T (p.Ser446Ile)
c.734G>T (p.Ser245Ile)
n.75-1G>T
c.1248-1G>T (n.1248-1G>T)
c.906-1G>T (n.906-1G>T)
c.1253G>T (p.Ser418Ile)
c.1218-1G>T (n.1218-1G>T)
c.397G>T
c.1307G>T (p.Ser436Ile)
c.1211G>T (p.Ser404Ile)
c.818G>T (p.Ser273Ile)
c.1214G>T (p.Ser405Ile)
c.245G>T (p.Ser82Ile)
 gnomAD v4
20g.63415091C>GCA409646791KCNQ2c.1283G>C (p.Ser428Thr)
c.1337G>C (p.Ser446Thr)
c.734G>C (p.Ser245Thr)
n.75-1G>C
c.1248-1G>C (n.1248-1G>C)
c.906-1G>C (n.906-1G>C)
c.1253G>C (p.Ser418Thr)
c.1218-1G>C (n.1218-1G>C)
c.397G>C
c.1307G>C (p.Ser436Thr)
c.1211G>C (p.Ser404Thr)
c.818G>C (p.Ser273Thr)
c.1214G>C (p.Ser405Thr)
c.245G>C (p.Ser82Thr)
20g.63415091C>TCA409646792KCNQ2c.1283G>A (p.Ser428Asn)
c.1337G>A (p.Ser446Asn)
c.734G>A (p.Ser245Asn)
n.75-1G>A
c.1248-1G>A (n.1248-1G>A)
c.906-1G>A (n.906-1G>A)
c.1253G>A (p.Ser418Asn)
c.1218-1G>A (n.1218-1G>A)
c.397G>A
c.1307G>A (p.Ser436Asn)
c.1211G>A (p.Ser404Asn)
c.818G>A (p.Ser273Asn)
c.1214G>A (p.Ser405Asn)
c.245G>A (p.Ser82Asn)
20g.63415092T>ACA409646793KCNQ2c.1282A>T (p.Ser428Cys)
c.1336A>T (p.Ser446Cys)
c.733A>T (p.Ser245Cys)
n.75-2A>T
c.1248-2A>T (n.1248-2A>T)
c.906-2A>T (n.906-2A>T)
c.1252A>T (p.Ser418Cys)
c.1218-2A>T (n.1218-2A>T)
c.396A>T
c.1306A>T (p.Ser436Cys)
c.1210A>T (p.Ser404Cys)
c.817A>T (p.Ser273Cys)
c.1213A>T (p.Ser405Cys)
c.244A>T (p.Ser82Cys)
20g.63415092T>CCA409646794KCNQ2c.1282A>G (p.Ser428Gly)
c.1336A>G (p.Ser446Gly)
c.733A>G (p.Ser245Gly)
n.75-2A>G
c.1248-2A>G (n.1248-2A>G)
c.906-2A>G (n.906-2A>G)
c.1252A>G (p.Ser418Gly)
c.1218-2A>G (n.1218-2A>G)
c.396A>G
c.1306A>G (p.Ser436Gly)
c.1210A>G (p.Ser404Gly)
c.817A>G (p.Ser273Gly)
c.1213A>G (p.Ser405Gly)
c.244A>G (p.Ser82Gly)
20g.63415092T>GCA409646795KCNQ2c.1282A>C (p.Ser428Arg)
c.1336A>C (p.Ser446Arg)
c.733A>C (p.Ser245Arg)
n.75-2A>C
c.1248-2A>C (n.1248-2A>C)
c.906-2A>C (n.906-2A>C)
c.1252A>C (p.Ser418Arg)
c.1218-2A>C (n.1218-2A>C)
c.396A>C
c.1306A>C (p.Ser436Arg)
c.1210A>C (p.Ser404Arg)
c.817A>C (p.Ser273Arg)
c.1213A>C (p.Ser405Arg)
c.244A>C (p.Ser82Arg)
20g.63415093G>ACA511339595KCNQ2c.1281C>T (p.Ser427=)
c.1335C>T (p.Ser445=)
c.732C>T (p.Ser244=)
n.75-3C>T
c.1248-3C>T (n.1248-3C>T)
c.906-3C>T (n.906-3C>T)
c.1251C>T (p.Ser417=)
c.1218-3C>T (n.1218-3C>T)
c.395C>T
c.1305C>T (p.Ser435=)
c.1209C>T (p.Ser403=)
c.816C>T (p.Ser272=)
c.1212C>T (p.Ser404=)
c.243C>T (p.Ser81=)
 ClinVar dbSNP gnomAD v2
20g.63415093G>CCA511339596KCNQ2c.1281C>G (p.Ser427=)
c.1335C>G (p.Ser445=)
c.732C>G (p.Ser244=)
n.75-3C>G
c.1248-3C>G (n.1248-3C>G)
c.906-3C>G (n.906-3C>G)
c.1251C>G (p.Ser417=)
c.1218-3C>G (n.1218-3C>G)
c.395C>G
c.1305C>G (p.Ser435=)
c.1209C>G (p.Ser403=)
c.816C>G (p.Ser272=)
c.1212C>G (p.Ser404=)
c.243C>G (p.Ser81=)
20g.63415093G=CA2374778853KCNQ2c.1281C= (p.Ser427=)
c.1335C= (p.Ser445=)
c.732C= (p.Ser244=)
n.75-3C=
c.1248-3C= (n.1248-3C=)
c.906-3C= (n.906-3C=)
c.1251C= (p.Ser417=)
c.1218-3C= (n.1218-3C=)
c.395C=
c.1305C= (p.Ser435=)
c.1209C= (p.Ser403=)
c.816C= (p.Ser272=)
c.1212C= (p.Ser404=)
c.243C= (p.Ser81=)
20g.63415093G>TCA511339597KCNQ2c.1281C>A (p.Ser427=)
c.1335C>A (p.Ser445=)
c.732C>A (p.Ser244=)
n.75-3C>A
c.1248-3C>A (n.1248-3C>A)
c.906-3C>A (n.906-3C>A)
c.1251C>A (p.Ser417=)
c.1218-3C>A (n.1218-3C>A)
c.395C>A
c.1305C>A (p.Ser435=)
c.1209C>A (p.Ser403=)
c.816C>A (p.Ser272=)
c.1212C>A (p.Ser404=)
c.243C>A (p.Ser81=)
 gnomAD v4
20g.63415094_63415096delCA2653800739KCNQ2c.1279_1281del (p.Ser427del)
c.1333_1335del (p.Ser445del)
c.730_732del (p.Ser244del)
n.75-5_75-3del
c.1248-5_1248-3del (n.1248-5_1248-3del)
c.906-5_906-3del (n.906-5_906-3del)
c.1249_1251del (p.Ser417del)
c.1218-5_1218-3del (n.1218-5_1218-3del)
c.393_395del
c.1303_1305del (p.Ser435del)
c.1207_1209del (p.Ser403del)
c.814_816del (p.Ser272del)
c.1210_1212del (p.Ser404del)
c.241_243del (p.Ser81del)
 gnomAD v4
20g.63415094G>ACA409646796KCNQ2c.1280C>T (p.Ser427Phe)
c.1334C>T (p.Ser445Phe)
c.731C>T (p.Ser244Phe)
n.75-4C>T
c.1248-4C>T (n.1248-4C>T)
c.906-4C>T (n.906-4C>T)
c.1250C>T (p.Ser417Phe)
c.1218-4C>T (n.1218-4C>T)
c.394C>T
c.1304C>T (p.Ser435Phe)
c.1208C>T (p.Ser403Phe)
c.815C>T (p.Ser272Phe)
c.1211C>T (p.Ser404Phe)
c.242C>T (p.Ser81Phe)
 dbSNP gnomAD v4
20g.63415094G>CCA409646797KCNQ2c.1280C>G (p.Ser427Cys)
c.1334C>G (p.Ser445Cys)
c.731C>G (p.Ser244Cys)
n.75-4C>G
c.1248-4C>G (n.1248-4C>G)
c.906-4C>G (n.906-4C>G)
c.1250C>G (p.Ser417Cys)
c.1218-4C>G (n.1218-4C>G)
c.394C>G
c.1304C>G (p.Ser435Cys)
c.1208C>G (p.Ser403Cys)
c.815C>G (p.Ser272Cys)
c.1211C>G (p.Ser404Cys)
c.242C>G (p.Ser81Cys)
 dbSNP
20g.63415094G=CA2374778854KCNQ2c.1280C= (p.Ser427=)
c.1334C= (p.Ser445=)
c.731C= (p.Ser244=)
n.75-4C=
c.1248-4C= (n.1248-4C=)
c.906-4C= (n.906-4C=)
c.1250C= (p.Ser417=)
c.1218-4C= (n.1218-4C=)
c.394C=
c.1304C= (p.Ser435=)
c.1208C= (p.Ser403=)
c.815C= (p.Ser272=)
c.1211C= (p.Ser404=)
c.242C= (p.Ser81=)
20g.63415094G>TCA409646798KCNQ2c.1280C>A (p.Ser427Tyr)
c.1334C>A (p.Ser445Tyr)
c.731C>A (p.Ser244Tyr)
n.75-4C>A
c.1248-4C>A (n.1248-4C>A)
c.906-4C>A (n.906-4C>A)
c.1250C>A (p.Ser417Tyr)
c.1218-4C>A (n.1218-4C>A)
c.394C>A
c.1304C>A (p.Ser435Tyr)
c.1208C>A (p.Ser403Tyr)
c.815C>A (p.Ser272Tyr)
c.1211C>A (p.Ser404Tyr)
c.242C>A (p.Ser81Tyr)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63415095A=CA2374778855KCNQ2c.1279T= (p.Ser427=)
c.1333T= (p.Ser445=)
c.730T= (p.Ser244=)
n.75-5T=
c.1248-5T= (n.1248-5T=)
c.906-5T= (n.906-5T=)
c.1249T= (p.Ser417=)
c.1218-5T= (n.1218-5T=)
c.393T=
c.1303T= (p.Ser435=)
c.1207T= (p.Ser403=)
c.814T= (p.Ser272=)
c.1210T= (p.Ser404=)
c.241T= (p.Ser81=)
20g.63415095A>CCA409646799KCNQ2c.1279T>G (p.Ser427Ala)
c.1333T>G (p.Ser445Ala)
c.730T>G (p.Ser244Ala)
n.75-5T>G
c.1248-5T>G (n.1248-5T>G)
c.906-5T>G (n.906-5T>G)
c.1249T>G (p.Ser417Ala)
c.1218-5T>G (n.1218-5T>G)
c.393T>G
c.1303T>G (p.Ser435Ala)
c.1207T>G (p.Ser403Ala)
c.814T>G (p.Ser272Ala)
c.1210T>G (p.Ser404Ala)
c.241T>G (p.Ser81Ala)
20g.63415095A>GCA409646800KCNQ2c.1279T>C (p.Ser427Pro)
c.1333T>C (p.Ser445Pro)
c.730T>C (p.Ser244Pro)
n.75-5T>C
c.1248-5T>C (n.1248-5T>C)
c.906-5T>C (n.906-5T>C)
c.1249T>C (p.Ser417Pro)
c.1218-5T>C (n.1218-5T>C)
c.393T>C
c.1303T>C (p.Ser435Pro)
c.1207T>C (p.Ser403Pro)
c.814T>C (p.Ser272Pro)
c.1210T>C (p.Ser404Pro)
c.241T>C (p.Ser81Pro)
 ClinVar dbSNP gnomAD v4
20g.63415095A>TCA409646802KCNQ2c.1279T>A (p.Ser427Thr)
c.1333T>A (p.Ser445Thr)
c.730T>A (p.Ser244Thr)
n.75-5T>A
c.1248-5T>A (n.1248-5T>A)
c.906-5T>A (n.906-5T>A)
c.1249T>A (p.Ser417Thr)
c.1218-5T>A (n.1218-5T>A)
c.393T>A
c.1303T>A (p.Ser435Thr)
c.1207T>A (p.Ser403Thr)
c.814T>A (p.Ser272Thr)
c.1210T>A (p.Ser404Thr)
c.241T>A (p.Ser81Thr)
20g.63415096G>ACA511339599KCNQ2c.1278C>T (p.Phe426=)
c.1332C>T (p.Phe444=)
c.729C>T (p.Phe243=)
n.75-6C>T
c.1248-6C>T (n.1248-6C>T)
c.906-6C>T (n.906-6C>T)
c.1248C>T (p.Phe416=)
c.1218-6C>T (n.1218-6C>T)
c.392C>T
c.1302C>T (p.Phe434=)
c.1206C>T (p.Phe402=)
c.813C>T (p.Phe271=)
c.1209C>T (p.Phe403=)
c.240C>T (p.Phe80=)
20g.63415096G>CCA409646807KCNQ2c.1278C>G (p.Phe426Leu)
c.1332C>G (p.Phe444Leu)
c.729C>G (p.Phe243Leu)
n.75-6C>G
c.1248-6C>G (n.1248-6C>G)
c.906-6C>G (n.906-6C>G)
c.1248C>G (p.Phe416Leu)
c.1218-6C>G (n.1218-6C>G)
c.392C>G
c.1302C>G (p.Phe434Leu)
c.1206C>G (p.Phe402Leu)
c.813C>G (p.Phe271Leu)
c.1209C>G (p.Phe403Leu)
c.240C>G (p.Phe80Leu)
20g.63415096G>TCA409646804KCNQ2c.1278C>A (p.Phe426Leu)
c.1332C>A (p.Phe444Leu)
c.729C>A (p.Phe243Leu)
n.75-6C>A
c.1248-6C>A (n.1248-6C>A)
c.906-6C>A (n.906-6C>A)
c.1248C>A (p.Phe416Leu)
c.1218-6C>A (n.1218-6C>A)
c.392C>A
c.1302C>A (p.Phe434Leu)
c.1206C>A (p.Phe402Leu)
c.813C>A (p.Phe271Leu)
c.1209C>A (p.Phe403Leu)
c.240C>A (p.Phe80Leu)
 gnomAD v4
20g.63415097A>CCA409646809KCNQ2c.1277T>G (p.Phe426Cys)
c.1331T>G (p.Phe444Cys)
c.728T>G (p.Phe243Cys)
n.75-7T>G
c.1248-7T>G (n.1248-7T>G)
c.906-7T>G (n.906-7T>G)
c.1247T>G (p.Phe416Cys)
c.1218-7T>G (n.1218-7T>G)
c.391T>G
c.1301T>G (p.Phe434Cys)
c.1205T>G (p.Phe402Cys)
c.812T>G (p.Phe271Cys)
c.1208T>G (p.Phe403Cys)
c.239T>G (p.Phe80Cys)
20g.63415097A>GCA409646810KCNQ2c.1277T>C (p.Phe426Ser)
c.1331T>C (p.Phe444Ser)
c.728T>C (p.Phe243Ser)
n.75-7T>C
c.1248-7T>C (n.1248-7T>C)
c.906-7T>C (n.906-7T>C)
c.1247T>C (p.Phe416Ser)
c.1218-7T>C (n.1218-7T>C)
c.391T>C
c.1301T>C (p.Phe434Ser)
c.1205T>C (p.Phe402Ser)
c.812T>C (p.Phe271Ser)
c.1208T>C (p.Phe403Ser)
c.239T>C (p.Phe80Ser)
20g.63415097A>TCA409646813KCNQ2c.1277T>A (p.Phe426Tyr)
c.1331T>A (p.Phe444Tyr)
c.728T>A (p.Phe243Tyr)
n.75-7T>A
c.1248-7T>A (n.1248-7T>A)
c.906-7T>A (n.906-7T>A)
c.1247T>A (p.Phe416Tyr)
c.1218-7T>A (n.1218-7T>A)
c.391T>A
c.1301T>A (p.Phe434Tyr)
c.1205T>A (p.Phe402Tyr)
c.812T>A (p.Phe271Tyr)
c.1208T>A (p.Phe403Tyr)
c.239T>A (p.Phe80Tyr)
20g.63415098A>CCA409646816KCNQ2c.1276T>G (p.Phe426Val)
c.1330T>G (p.Phe444Val)
c.727T>G (p.Phe243Val)
n.75-8T>G
c.1248-8T>G (n.1248-8T>G)
c.906-8T>G (n.906-8T>G)
c.1246T>G (p.Phe416Val)
c.1218-8T>G (n.1218-8T>G)
c.390T>G
c.1300T>G (p.Phe434Val)
c.1204T>G (p.Phe402Val)
c.811T>G (p.Phe271Val)
c.1207T>G (p.Phe403Val)
c.238T>G (p.Phe80Val)
20g.63415098A>GCA409646823KCNQ2c.1276T>C (p.Phe426Leu)
c.1330T>C (p.Phe444Leu)
c.727T>C (p.Phe243Leu)
n.75-8T>C
c.1248-8T>C (n.1248-8T>C)
c.906-8T>C (n.906-8T>C)
c.1246T>C (p.Phe416Leu)
c.1218-8T>C (n.1218-8T>C)
c.390T>C
c.1300T>C (p.Phe434Leu)
c.1204T>C (p.Phe402Leu)
c.811T>C (p.Phe271Leu)
c.1207T>C (p.Phe403Leu)
c.238T>C (p.Phe80Leu)
20g.63415098A>TCA409646826KCNQ2c.1276T>A (p.Phe426Ile)
c.1330T>A (p.Phe444Ile)
c.727T>A (p.Phe243Ile)
n.75-8T>A
c.1248-8T>A (n.1248-8T>A)
c.906-8T>A (n.906-8T>A)
c.1246T>A (p.Phe416Ile)
c.1218-8T>A (n.1218-8T>A)
c.390T>A
c.1300T>A (p.Phe434Ile)
c.1204T>A (p.Phe402Ile)
c.811T>A (p.Phe271Ile)
c.1207T>A (p.Phe403Ile)
c.238T>A (p.Phe80Ile)
20g.63415099G>ACA511339603KCNQ2c.1275C>T (p.Val425=)
c.1329C>T (p.Val443=)
c.726C>T (p.Val242=)
n.75-9C>T
c.1248-9C>T (n.1248-9C>T)
c.906-9C>T (n.906-9C>T)
c.1245C>T (p.Val415=)
c.1218-9C>T (n.1218-9C>T)
c.389C>T
c.1299C>T (p.Val433=)
c.1203C>T (p.Val401=)
c.810C>T (p.Val270=)
c.1206C>T (p.Val402=)
c.237C>T (p.Val79=)
20g.63415099G>CCA16608505KCNQ2c.1275C>G (p.Val425=)
c.1329C>G (p.Val443=)
c.726C>G (p.Val242=)
n.75-9C>G
c.1248-9C>G (n.1248-9C>G)
c.906-9C>G (n.906-9C>G)
c.1245C>G (p.Val415=)
c.1218-9C>G (n.1218-9C>G)
c.389C>G
c.1299C>G (p.Val433=)
c.1203C>G (p.Val401=)
c.810C>G (p.Val270=)
c.1206C>G (p.Val402=)
c.237C>G (p.Val79=)
 ClinVar dbSNP gnomAD v4
20g.63415099G=CA2374778856KCNQ2c.1275C= (p.Val425=)
c.1329C= (p.Val443=)
c.726C= (p.Val242=)
n.75-9C=
c.1248-9C= (n.1248-9C=)
c.906-9C= (n.906-9C=)
c.1245C= (p.Val415=)
c.1218-9C= (n.1218-9C=)
c.389C=
c.1299C= (p.Val433=)
c.1203C= (p.Val401=)
c.810C= (p.Val270=)
c.1206C= (p.Val402=)
c.237C= (p.Val79=)
20g.63415099G>TCA511339607KCNQ2c.1275C>A (p.Val425=)
c.1329C>A (p.Val443=)
c.726C>A (p.Val242=)
n.75-9C>A
c.1248-9C>A (n.1248-9C>A)
c.906-9C>A (n.906-9C>A)
c.1245C>A (p.Val415=)
c.1218-9C>A (n.1218-9C>A)
c.389C>A
c.1299C>A (p.Val433=)
c.1203C>A (p.Val401=)
c.810C>A (p.Val270=)
c.1206C>A (p.Val402=)
c.237C>A (p.Val79=)
 gnomAD v4
20g.63415100A>CCA409646828KCNQ2c.1274T>G (p.Val425Gly)
c.1328T>G (p.Val443Gly)
c.725T>G (p.Val242Gly)
n.75-10T>G
c.1248-10T>G (n.1248-10T>G)
c.906-10T>G (n.906-10T>G)
c.1244T>G (p.Val415Gly)
c.1218-10T>G (n.1218-10T>G)
c.388T>G
c.1298T>G (p.Val433Gly)
c.1202T>G (p.Val401Gly)
c.809T>G (p.Val270Gly)
c.1205T>G (p.Val402Gly)
c.236T>G (p.Val79Gly)
20g.63415100A>GCA409646829KCNQ2c.1274T>C (p.Val425Ala)
c.1328T>C (p.Val443Ala)
c.725T>C (p.Val242Ala)
n.75-10T>C
c.1248-10T>C (n.1248-10T>C)
c.906-10T>C (n.906-10T>C)
c.1244T>C (p.Val415Ala)
c.1218-10T>C (n.1218-10T>C)
c.388T>C
c.1298T>C (p.Val433Ala)
c.1202T>C (p.Val401Ala)
c.809T>C (p.Val270Ala)
c.1205T>C (p.Val402Ala)
c.236T>C (p.Val79Ala)
20g.63415100A>TCA409646831KCNQ2c.1274T>A (p.Val425Asp)
c.1328T>A (p.Val443Asp)
c.725T>A (p.Val242Asp)
n.75-10T>A
c.1248-10T>A (n.1248-10T>A)
c.906-10T>A (n.906-10T>A)
c.1244T>A (p.Val415Asp)
c.1218-10T>A (n.1218-10T>A)
c.388T>A
c.1298T>A (p.Val433Asp)
c.1202T>A (p.Val401Asp)
c.809T>A (p.Val270Asp)
c.1205T>A (p.Val402Asp)
c.236T>A (p.Val79Asp)
20g.63415101C>ACA409646834KCNQ2c.1273G>T (p.Val425Phe)
c.1327G>T (p.Val443Phe)
c.724G>T (p.Val242Phe)
n.75-11G>T
c.1248-11G>T (n.1248-11G>T)
c.906-11G>T (n.906-11G>T)
c.1243G>T (p.Val415Phe)
c.1218-11G>T (n.1218-11G>T)
c.387G>T
c.1297G>T (p.Val433Phe)
c.1201G>T (p.Val401Phe)
c.808G>T (p.Val270Phe)
c.1204G>T (p.Val402Phe)
c.235G>T (p.Val79Phe)
20g.63415101C=CA2374778857KCNQ2c.1273G= (p.Val425=)
c.1327G= (p.Val443=)
c.724G= (p.Val242=)
n.75-11G=
c.1248-11G= (n.1248-11G=)
c.906-11G= (n.906-11G=)
c.1243G= (p.Val415=)
c.1218-11G= (n.1218-11G=)
c.387G=
c.1297G= (p.Val433=)
c.1201G= (p.Val401=)
c.808G= (p.Val270=)
c.1204G= (p.Val402=)
c.235G= (p.Val79=)
20g.63415101C>GCA409646835KCNQ2c.1273G>C (p.Val425Leu)
c.1327G>C (p.Val443Leu)
c.724G>C (p.Val242Leu)
n.75-11G>C
c.1248-11G>C (n.1248-11G>C)
c.906-11G>C (n.906-11G>C)
c.1243G>C (p.Val415Leu)
c.1218-11G>C (n.1218-11G>C)
c.387G>C
c.1297G>C (p.Val433Leu)
c.1201G>C (p.Val401Leu)
c.808G>C (p.Val270Leu)
c.1204G>C (p.Val402Leu)
c.235G>C (p.Val79Leu)
20g.63415101C>TCA409646837KCNQ2c.1273G>A (p.Val425Ile)
c.1327G>A (p.Val443Ile)
c.724G>A (p.Val242Ile)
n.75-11G>A
c.1248-11G>A (n.1248-11G>A)
c.906-11G>A (n.906-11G>A)
c.1243G>A (p.Val415Ile)
c.1218-11G>A (n.1218-11G>A)
c.387G>A
c.1297G>A (p.Val433Ile)
c.1201G>A (p.Val401Ile)
c.808G>A (p.Val270Ile)
c.1204G>A (p.Val402Ile)
c.235G>A (p.Val79Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.63415102A>CCA511339608KCNQ2c.1272T>G (p.Arg424=)
c.1326T>G (p.Arg442=)
c.723T>G (p.Arg241=)
n.75-12T>G
c.1248-12T>G (n.1248-12T>G)
c.906-12T>G (n.906-12T>G)
c.1242T>G (p.Arg414=)
c.1218-12T>G (n.1218-12T>G)
c.386T>G
c.1296T>G (p.Arg432=)
c.1200T>G (p.Arg400=)
c.807T>G (p.Arg269=)
c.1203T>G (p.Arg401=)
c.234T>G (p.Arg78=)
20g.63415102A>GCA511339610KCNQ2c.1272T>C (p.Arg424=)
c.1326T>C (p.Arg442=)
c.723T>C (p.Arg241=)
n.75-12T>C
c.1248-12T>C (n.1248-12T>C)
c.906-12T>C (n.906-12T>C)
c.1242T>C (p.Arg414=)
c.1218-12T>C (n.1218-12T>C)
c.386T>C
c.1296T>C (p.Arg432=)
c.1200T>C (p.Arg400=)
c.807T>C (p.Arg269=)
c.1203T>C (p.Arg401=)
c.234T>C (p.Arg78=)
20g.63415102A>TCA511339611KCNQ2c.1272T>A (p.Arg424=)
c.1326T>A (p.Arg442=)
c.723T>A (p.Arg241=)
n.75-12T>A
c.1248-12T>A (n.1248-12T>A)
c.906-12T>A (n.906-12T>A)
c.1242T>A (p.Arg414=)
c.1218-12T>A (n.1218-12T>A)
c.386T>A
c.1296T>A (p.Arg432=)
c.1200T>A (p.Arg400=)
c.807T>A (p.Arg269=)
c.1203T>A (p.Arg401=)
c.234T>A (p.Arg78=)
20g.63415103C>ACA409646844KCNQ2c.1271G>T (p.Arg424Leu)
c.1325G>T (p.Arg442Leu)
c.722G>T (p.Arg241Leu)
n.75-13G>T
c.1248-13G>T (n.1248-13G>T)
c.906-13G>T (n.906-13G>T)
c.1241G>T (p.Arg414Leu)
c.1218-13G>T (n.1218-13G>T)
c.385G>T
c.1295G>T (p.Arg432Leu)
c.1199G>T (p.Arg400Leu)
c.806G>T (p.Arg269Leu)
c.1202G>T (p.Arg401Leu)
c.233G>T (p.Arg78Leu)
20g.63415103C=CA2374778858KCNQ2c.1271G= (p.Arg424=)
c.1325G= (p.Arg442=)
c.722G= (p.Arg241=)
n.75-13G=
c.1248-13G= (n.1248-13G=)
c.906-13G= (n.906-13G=)
c.1241G= (p.Arg414=)
c.1218-13G= (n.1218-13G=)
c.385G=
c.1295G= (p.Arg432=)
c.1199G= (p.Arg400=)
c.806G= (p.Arg269=)
c.1202G= (p.Arg401=)
c.233G= (p.Arg78=)
20g.63415103C>GCA409646843KCNQ2c.1271G>C (p.Arg424Pro)
c.1325G>C (p.Arg442Pro)
c.722G>C (p.Arg241Pro)
n.75-13G>C
c.1248-13G>C (n.1248-13G>C)
c.906-13G>C (n.906-13G>C)
c.1241G>C (p.Arg414Pro)
c.1218-13G>C (n.1218-13G>C)
c.385G>C
c.1295G>C (p.Arg432Pro)
c.1199G>C (p.Arg400Pro)
c.806G>C (p.Arg269Pro)
c.1202G>C (p.Arg401Pro)
c.233G>C (p.Arg78Pro)
20g.63415103C>TCA409646840KCNQ2c.1271G>A (p.Arg424His)
c.1325G>A (p.Arg442His)
c.722G>A (p.Arg241His)
n.75-13G>A
c.1248-13G>A (n.1248-13G>A)
c.906-13G>A (n.906-13G>A)
c.1241G>A (p.Arg414His)
c.1218-13G>A (n.1218-13G>A)
c.385G>A
c.1295G>A (p.Arg432His)
c.1199G>A (p.Arg400His)
c.806G>A (p.Arg269His)
c.1202G>A (p.Arg401His)
c.233G>A (p.Arg78His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415104G>ACA409646846KCNQ2c.1270C>T (p.Arg424Cys)
c.1324C>T (p.Arg442Cys)
c.721C>T (p.Arg241Cys)
n.75-14C>T
c.1248-14C>T (n.1248-14C>T)
c.906-14C>T (n.906-14C>T)
c.1240C>T (p.Arg414Cys)
c.1218-14C>T (n.1218-14C>T)
c.384C>T
c.1294C>T (p.Arg432Cys)
c.1198C>T (p.Arg400Cys)
c.805C>T (p.Arg269Cys)
c.1201C>T (p.Arg401Cys)
c.232C>T (p.Arg78Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415104G>CCA409646852KCNQ2c.1270C>G (p.Arg424Gly)
c.1324C>G (p.Arg442Gly)
c.721C>G (p.Arg241Gly)
n.75-14C>G
c.1248-14C>G (n.1248-14C>G)
c.906-14C>G (n.906-14C>G)
c.1240C>G (p.Arg414Gly)
c.1218-14C>G (n.1218-14C>G)
c.384C>G
c.1294C>G (p.Arg432Gly)
c.1198C>G (p.Arg400Gly)
c.805C>G (p.Arg269Gly)
c.1201C>G (p.Arg401Gly)
c.232C>G (p.Arg78Gly)
20g.63415104G=CA2374778859KCNQ2c.1270C= (p.Arg424=)
c.1324C= (p.Arg442=)
c.721C= (p.Arg241=)
n.75-14C=
c.1248-14C= (n.1248-14C=)
c.906-14C= (n.906-14C=)
c.1240C= (p.Arg414=)
c.1218-14C= (n.1218-14C=)
c.384C=
c.1294C= (p.Arg432=)
c.1198C= (p.Arg400=)
c.805C= (p.Arg269=)
c.1201C= (p.Arg401=)
c.232C= (p.Arg78=)
20g.63415104G>TCA409646849KCNQ2c.1270C>A (p.Arg424Ser)
c.1324C>A (p.Arg442Ser)
c.721C>A (p.Arg241Ser)
n.75-14C>A
c.1248-14C>A (n.1248-14C>A)
c.906-14C>A (n.906-14C>A)
c.1240C>A (p.Arg414Ser)
c.1218-14C>A (n.1218-14C>A)
c.384C>A
c.1294C>A (p.Arg432Ser)
c.1198C>A (p.Arg400Ser)
c.805C>A (p.Arg269Ser)
c.1201C>A (p.Arg401Ser)
c.232C>A (p.Arg78Ser)
20g.63415105A>CCA409646855KCNQ2c.1269T>G (p.Asp423Glu)
c.1323T>G (p.Asp441Glu)
c.720T>G (p.Asp240Glu)
n.75-15T>G
c.1248-15T>G (n.1248-15T>G)
c.906-15T>G (n.906-15T>G)
c.1239T>G (p.Asp413Glu)
c.1218-15T>G (n.1218-15T>G)
c.383T>G
c.1293T>G (p.Asp431Glu)
c.1197T>G (p.Asp399Glu)
c.804T>G (p.Asp268Glu)
c.1200T>G (p.Asp400Glu)
c.231T>G (p.Asp77Glu)
 gnomAD v4
20g.63415105A>GCA511339617KCNQ2c.1269T>C (p.Asp423=)
c.1323T>C (p.Asp441=)
c.720T>C (p.Asp240=)
n.75-15T>C
c.1248-15T>C (n.1248-15T>C)
c.906-15T>C (n.906-15T>C)
c.1239T>C (p.Asp413=)
c.1218-15T>C (n.1218-15T>C)
c.383T>C
c.1293T>C (p.Asp431=)
c.1197T>C (p.Asp399=)
c.804T>C (p.Asp268=)
c.1200T>C (p.Asp400=)
c.231T>C (p.Asp77=)
 gnomAD v4
20g.63415105A>TCA409646857KCNQ2c.1269T>A (p.Asp423Glu)
c.1323T>A (p.Asp441Glu)
c.720T>A (p.Asp240Glu)
n.75-15T>A
c.1248-15T>A (n.1248-15T>A)
c.906-15T>A (n.906-15T>A)
c.1239T>A (p.Asp413Glu)
c.1218-15T>A (n.1218-15T>A)
c.383T>A
c.1293T>A (p.Asp431Glu)
c.1197T>A (p.Asp399Glu)
c.804T>A (p.Asp268Glu)
c.1200T>A (p.Asp400Glu)
c.231T>A (p.Asp77Glu)
20g.63415106T>ACA409646861KCNQ2c.1268A>T (p.Asp423Val)
c.1322A>T (p.Asp441Val)
c.719A>T (p.Asp240Val)
n.75-16A>T
c.1248-16A>T (n.1248-16A>T)
c.906-16A>T (n.906-16A>T)
c.1238A>T (p.Asp413Val)
c.1218-16A>T (n.1218-16A>T)
c.382A>T
c.1292A>T (p.Asp431Val)
c.1196A>T (p.Asp399Val)
c.803A>T (p.Asp268Val)
c.1199A>T (p.Asp400Val)
c.230A>T (p.Asp77Val)
20g.63415106T>CCA9958472KCNQ2c.1268A>G (p.Asp423Gly)
c.1322A>G (p.Asp441Gly)
c.719A>G (p.Asp240Gly)
n.75-16A>G
c.1248-16A>G (n.1248-16A>G)
c.906-16A>G (n.906-16A>G)
c.1238A>G (p.Asp413Gly)
c.1218-16A>G (n.1218-16A>G)
c.382A>G
c.1292A>G (p.Asp431Gly)
c.1196A>G (p.Asp399Gly)
c.803A>G (p.Asp268Gly)
c.1199A>G (p.Asp400Gly)
c.230A>G (p.Asp77Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415106T>GCA409646865KCNQ2c.1268A>C (p.Asp423Ala)
c.1322A>C (p.Asp441Ala)
c.719A>C (p.Asp240Ala)
n.75-16A>C
c.1248-16A>C (n.1248-16A>C)
c.906-16A>C (n.906-16A>C)
c.1238A>C (p.Asp413Ala)
c.1218-16A>C (n.1218-16A>C)
c.382A>C
c.1292A>C (p.Asp431Ala)
c.1196A>C (p.Asp399Ala)
c.803A>C (p.Asp268Ala)
c.1199A>C (p.Asp400Ala)
c.230A>C (p.Asp77Ala)
20g.63415106T=CA2374778860KCNQ2c.1268A= (p.Asp423=)
c.1322A= (p.Asp441=)
c.719A= (p.Asp240=)
n.75-16A=
c.1248-16A= (n.1248-16A=)
c.906-16A= (n.906-16A=)
c.1238A= (p.Asp413=)
c.1218-16A= (n.1218-16A=)
c.382A=
c.1292A= (p.Asp431=)
c.1196A= (p.Asp399=)
c.803A= (p.Asp268=)
c.1199A= (p.Asp400=)
c.230A= (p.Asp77=)
20g.63415107C>ACA409646868KCNQ2c.1267G>T (p.Asp423Tyr)
c.1321G>T (p.Asp441Tyr)
c.718G>T (p.Asp240Tyr)
n.75-17G>T
c.1248-17G>T (n.1248-17G>T)
c.906-17G>T (n.906-17G>T)
c.1237G>T (p.Asp413Tyr)
c.1218-17G>T (n.1218-17G>T)
c.381G>T
c.1291G>T (p.Asp431Tyr)
c.1195G>T (p.Asp399Tyr)
c.802G>T (p.Asp268Tyr)
c.1198G>T (p.Asp400Tyr)
c.229G>T (p.Asp77Tyr)
 gnomAD v4
20g.63415107C=CA2374778861KCNQ2c.1267G= (p.Asp423=)
c.1321G= (p.Asp441=)
c.718G= (p.Asp240=)
n.75-17G=
c.1248-17G= (n.1248-17G=)
c.906-17G= (n.906-17G=)
c.1237G= (p.Asp413=)
c.1218-17G= (n.1218-17G=)
c.381G=
c.1291G= (p.Asp431=)
c.1195G= (p.Asp399=)
c.802G= (p.Asp268=)
c.1198G= (p.Asp400=)
c.229G= (p.Asp77=)
20g.63415107C>GCA409646871KCNQ2c.1267G>C (p.Asp423His)
c.1321G>C (p.Asp441His)
c.718G>C (p.Asp240His)
n.75-17G>C
c.1248-17G>C (n.1248-17G>C)
c.906-17G>C (n.906-17G>C)
c.1237G>C (p.Asp413His)
c.1218-17G>C (n.1218-17G>C)
c.381G>C
c.1291G>C (p.Asp431His)
c.1195G>C (p.Asp399His)
c.802G>C (p.Asp268His)
c.1198G>C (p.Asp400His)
c.229G>C (p.Asp77His)
20g.63415107C>TCA9958473KCNQ2c.1267G>A (p.Asp423Asn)
c.1321G>A (p.Asp441Asn)
c.718G>A (p.Asp240Asn)
n.75-17G>A
c.1248-17G>A (n.1248-17G>A)
c.906-17G>A (n.906-17G>A)
c.1237G>A (p.Asp413Asn)
c.1218-17G>A (n.1218-17G>A)
c.381G>A
c.1291G>A (p.Asp431Asn)
c.1195G>A (p.Asp399Asn)
c.802G>A (p.Asp268Asn)
c.1198G>A (p.Asp400Asn)
c.229G>A (p.Asp77Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415108T>ACA409646873KCNQ2c.1266A>T (p.Lys422Asn)
c.1320A>T (p.Lys440Asn)
c.717A>T (p.Lys239Asn)
n.75-18A>T
c.1248-18A>T (n.1248-18A>T)
c.906-18A>T (n.906-18A>T)
c.1236A>T (p.Lys412Asn)
c.1218-18A>T (n.1218-18A>T)
c.380A>T
c.1290A>T (p.Lys430Asn)
c.1194A>T (p.Lys398Asn)
c.801A>T (p.Lys267Asn)
c.1197A>T (p.Lys399Asn)
c.228A>T (p.Lys76Asn)
20g.63415108T>CCA511339619KCNQ2c.1266A>G (p.Lys422=)
c.1320A>G (p.Lys440=)
c.717A>G (p.Lys239=)
n.75-18A>G
c.1248-18A>G (n.1248-18A>G)
c.906-18A>G (n.906-18A>G)
c.1236A>G (p.Lys412=)
c.1218-18A>G (n.1218-18A>G)
c.380A>G
c.1290A>G (p.Lys430=)
c.1194A>G (p.Lys398=)
c.801A>G (p.Lys267=)
c.1197A>G (p.Lys399=)
c.228A>G (p.Lys76=)
 ClinVar
20g.63415108T>GCA409646875KCNQ2c.1266A>C (p.Lys422Asn)
c.1320A>C (p.Lys440Asn)
c.717A>C (p.Lys239Asn)
n.75-18A>C
c.1248-18A>C (n.1248-18A>C)
c.906-18A>C (n.906-18A>C)
c.1236A>C (p.Lys412Asn)
c.1218-18A>C (n.1218-18A>C)
c.380A>C
c.1290A>C (p.Lys430Asn)
c.1194A>C (p.Lys398Asn)
c.801A>C (p.Lys267Asn)
c.1197A>C (p.Lys399Asn)
c.228A>C (p.Lys76Asn)
20g.63415109T>ACA409646877KCNQ2c.1265A>T (p.Lys422Ile)
c.1319A>T (p.Lys440Ile)
c.716A>T (p.Lys239Ile)
n.75-19A>T
c.1248-19A>T (n.1248-19A>T)
c.906-19A>T (n.906-19A>T)
c.1235A>T (p.Lys412Ile)
c.1218-19A>T (n.1218-19A>T)
c.379A>T
c.1289A>T (p.Lys430Ile)
c.1193A>T (p.Lys398Ile)
c.800A>T (p.Lys267Ile)
c.1196A>T (p.Lys399Ile)
c.227A>T (p.Lys76Ile)
20g.63415109T>CCA9958474KCNQ2c.1265A>G (p.Lys422Arg)
c.1319A>G (p.Lys440Arg)
c.716A>G (p.Lys239Arg)
n.75-19A>G
c.1248-19A>G (n.1248-19A>G)
c.906-19A>G (n.906-19A>G)
c.1235A>G (p.Lys412Arg)
c.1218-19A>G (n.1218-19A>G)
c.379A>G
c.1289A>G (p.Lys430Arg)
c.1193A>G (p.Lys398Arg)
c.800A>G (p.Lys267Arg)
c.1196A>G (p.Lys399Arg)
c.227A>G (p.Lys76Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415109T>GCA409646881KCNQ2c.1265A>C (p.Lys422Thr)
c.1319A>C (p.Lys440Thr)
c.716A>C (p.Lys239Thr)
n.75-19A>C
c.1248-19A>C (n.1248-19A>C)
c.906-19A>C (n.906-19A>C)
c.1235A>C (p.Lys412Thr)
c.1218-19A>C (n.1218-19A>C)
c.379A>C
c.1289A>C (p.Lys430Thr)
c.1193A>C (p.Lys398Thr)
c.800A>C (p.Lys267Thr)
c.1196A>C (p.Lys399Thr)
c.227A>C (p.Lys76Thr)
20g.63415109T=CA2374778862KCNQ2c.1265A= (p.Lys422=)
c.1319A= (p.Lys440=)
c.716A= (p.Lys239=)
n.75-19A=
c.1248-19A= (n.1248-19A=)
c.906-19A= (n.906-19A=)
c.1235A= (p.Lys412=)
c.1218-19A= (n.1218-19A=)
c.379A=
c.1289A= (p.Lys430=)
c.1193A= (p.Lys398=)
c.800A= (p.Lys267=)
c.1196A= (p.Lys399=)
c.227A= (p.Lys76=)
20g.63415110T>ACA409646885KCNQ2c.1264A>T (p.Lys422Ter)
c.1318A>T (p.Lys440Ter)
c.715A>T (p.Lys239Ter)
n.75-20A>T
c.1248-20A>T (n.1248-20A>T)
c.906-20A>T (n.906-20A>T)
c.1234A>T (p.Lys412Ter)
c.1218-20A>T (n.1218-20A>T)
c.378A>T
c.1288A>T (p.Lys430Ter)
c.1192A>T (p.Lys398Ter)
c.799A>T (p.Lys267Ter)
c.1195A>T (p.Lys399Ter)
c.226A>T (p.Lys76Ter)
20g.63415110T>CCA409646890KCNQ2c.1264A>G (p.Lys422Glu)
c.1318A>G (p.Lys440Glu)
c.715A>G (p.Lys239Glu)
n.75-20A>G
c.1248-20A>G (n.1248-20A>G)
c.906-20A>G (n.906-20A>G)
c.1234A>G (p.Lys412Glu)
c.1218-20A>G (n.1218-20A>G)
c.378A>G
c.1288A>G (p.Lys430Glu)
c.1192A>G (p.Lys398Glu)
c.799A>G (p.Lys267Glu)
c.1195A>G (p.Lys399Glu)
c.226A>G (p.Lys76Glu)
20g.63415110T>GCA409646887KCNQ2c.1264A>C (p.Lys422Gln)
c.1318A>C (p.Lys440Gln)
c.715A>C (p.Lys239Gln)
n.75-20A>C
c.1248-20A>C (n.1248-20A>C)
c.906-20A>C (n.906-20A>C)
c.1234A>C (p.Lys412Gln)
c.1218-20A>C (n.1218-20A>C)
c.378A>C
c.1288A>C (p.Lys430Gln)
c.1192A>C (p.Lys398Gln)
c.799A>C (p.Lys267Gln)
c.1195A>C (p.Lys399Gln)
c.226A>C (p.Lys76Gln)
20g.63415111C>ACA409646893KCNQ2c.1263G>T (p.Leu421Phe)
c.1317G>T (p.Leu439Phe)
c.714G>T (p.Leu238Phe)
n.75-21G>T
c.1248-21G>T (n.1248-21G>T)
c.906-21G>T (n.906-21G>T)
c.1233G>T (p.Leu411Phe)
c.1218-21G>T (n.1218-21G>T)
c.377G>T
c.1287G>T (p.Leu429Phe)
c.1191G>T (p.Leu397Phe)
c.798G>T (p.Leu266Phe)
c.1194G>T (p.Leu398Phe)
c.225G>T (p.Leu75Phe)
20g.63415111C>GCA409646895KCNQ2c.1263G>C (p.Leu421Phe)
c.1317G>C (p.Leu439Phe)
c.714G>C (p.Leu238Phe)
n.75-21G>C
c.1248-21G>C (n.1248-21G>C)
c.906-21G>C (n.906-21G>C)
c.1233G>C (p.Leu411Phe)
c.1218-21G>C (n.1218-21G>C)
c.377G>C
c.1287G>C (p.Leu429Phe)
c.1191G>C (p.Leu397Phe)
c.798G>C (p.Leu266Phe)
c.1194G>C (p.Leu398Phe)
c.225G>C (p.Leu75Phe)
20g.63415111C>TCA511339624KCNQ2c.1263G>A (p.Leu421=)
c.1317G>A (p.Leu439=)
c.714G>A (p.Leu238=)
n.75-21G>A
c.1248-21G>A (n.1248-21G>A)
c.906-21G>A (n.906-21G>A)
c.1233G>A (p.Leu411=)
c.1218-21G>A (n.1218-21G>A)
c.377G>A
c.1287G>A (p.Leu429=)
c.1191G>A (p.Leu397=)
c.798G>A (p.Leu266=)
c.1194G>A (p.Leu398=)
c.225G>A (p.Leu75=)
20g.63415112A>CCA409646896KCNQ2c.1262T>G (p.Leu421Trp)
c.1316T>G (p.Leu439Trp)
c.713T>G (p.Leu238Trp)
n.75-22T>G
c.1248-22T>G (n.1248-22T>G)
c.906-22T>G (n.906-22T>G)
c.1232T>G (p.Leu411Trp)
c.1218-22T>G (n.1218-22T>G)
c.376T>G
c.1286T>G (p.Leu429Trp)
c.1190T>G (p.Leu397Trp)
c.797T>G (p.Leu266Trp)
c.1193T>G (p.Leu398Trp)
c.224T>G (p.Leu75Trp)
20g.63415112A>GCA409646899KCNQ2c.1262T>C (p.Leu421Ser)
c.1316T>C (p.Leu439Ser)
c.713T>C (p.Leu238Ser)
n.75-22T>C
c.1248-22T>C (n.1248-22T>C)
c.906-22T>C (n.906-22T>C)
c.1232T>C (p.Leu411Ser)
c.1218-22T>C (n.1218-22T>C)
c.376T>C
c.1286T>C (p.Leu429Ser)
c.1190T>C (p.Leu397Ser)
c.797T>C (p.Leu266Ser)
c.1193T>C (p.Leu398Ser)
c.224T>C (p.Leu75Ser)
20g.63415112A>TCA409646902KCNQ2c.1262T>A (p.Leu421Ter)
c.1316T>A (p.Leu439Ter)
c.713T>A (p.Leu238Ter)
n.75-22T>A
c.1248-22T>A (n.1248-22T>A)
c.906-22T>A (n.906-22T>A)
c.1232T>A (p.Leu411Ter)
c.1218-22T>A (n.1218-22T>A)
c.376T>A
c.1286T>A (p.Leu429Ter)
c.1190T>A (p.Leu397Ter)
c.797T>A (p.Leu266Ter)
c.1193T>A (p.Leu398Ter)
c.224T>A (p.Leu75Ter)
20g.63415113A>CCA409646904KCNQ2c.1261T>G (p.Leu421Val)
c.1315T>G (p.Leu439Val)
c.712T>G (p.Leu238Val)
n.75-23T>G
c.1248-23T>G (n.1248-23T>G)
c.906-23T>G (n.906-23T>G)
c.1231T>G (p.Leu411Val)
c.1218-23T>G (n.1218-23T>G)
c.375T>G
c.1285T>G (p.Leu429Val)
c.1189T>G (p.Leu397Val)
c.796T>G (p.Leu266Val)
c.1192T>G (p.Leu398Val)
c.223T>G (p.Leu75Val)
 gnomAD v4
20g.63415113A>GCA511339631KCNQ2c.1261T>C (p.Leu421=)
c.1315T>C (p.Leu439=)
c.712T>C (p.Leu238=)
n.75-23T>C
c.1248-23T>C (n.1248-23T>C)
c.906-23T>C (n.906-23T>C)
c.1231T>C (p.Leu411=)
c.1218-23T>C (n.1218-23T>C)
c.375T>C
c.1285T>C (p.Leu429=)
c.1189T>C (p.Leu397=)
c.796T>C (p.Leu266=)
c.1192T>C (p.Leu398=)
c.223T>C (p.Leu75=)
20g.63415113A>TCA409646905KCNQ2c.1261T>A (p.Leu421Met)
c.1315T>A (p.Leu439Met)
c.712T>A (p.Leu238Met)
n.75-23T>A
c.1248-23T>A (n.1248-23T>A)
c.906-23T>A (n.906-23T>A)
c.1231T>A (p.Leu411Met)
c.1218-23T>A (n.1218-23T>A)
c.375T>A
c.1285T>A (p.Leu429Met)
c.1189T>A (p.Leu397Met)
c.796T>A (p.Leu266Met)
c.1192T>A (p.Leu398Met)
c.223T>A (p.Leu75Met)
20g.63415114A>CCA409646908KCNQ2c.1260T>G (p.Ser420Arg)
c.1314T>G (p.Ser438Arg)
c.711T>G (p.Ser237Arg)
n.75-24T>G
c.1248-24T>G (n.1248-24T>G)
c.906-24T>G (n.906-24T>G)
c.1230T>G (p.Ser410Arg)
c.1218-24T>G (n.1218-24T>G)
c.374T>G
c.1284T>G (p.Ser428Arg)
c.1188T>G (p.Ser396Arg)
c.795T>G (p.Ser265Arg)
c.1191T>G (p.Ser397Arg)
c.222T>G (p.Ser74Arg)
20g.63415114A>GCA511339633KCNQ2c.1260T>C (p.Ser420=)
c.1314T>C (p.Ser438=)
c.711T>C (p.Ser237=)
n.75-24T>C
c.1248-24T>C (n.1248-24T>C)
c.906-24T>C (n.906-24T>C)
c.1230T>C (p.Ser410=)
c.1218-24T>C (n.1218-24T>C)
c.374T>C
c.1284T>C (p.Ser428=)
c.1188T>C (p.Ser396=)
c.795T>C (p.Ser265=)
c.1191T>C (p.Ser397=)
c.222T>C (p.Ser74=)
20g.63415114A>TCA409646911KCNQ2c.1260T>A (p.Ser420Arg)
c.1314T>A (p.Ser438Arg)
c.711T>A (p.Ser237Arg)
n.75-24T>A
c.1248-24T>A (n.1248-24T>A)
c.906-24T>A (n.906-24T>A)
c.1230T>A (p.Ser410Arg)
c.1218-24T>A (n.1218-24T>A)
c.374T>A
c.1284T>A (p.Ser428Arg)
c.1188T>A (p.Ser396Arg)
c.795T>A (p.Ser265Arg)
c.1191T>A (p.Ser397Arg)
c.222T>A (p.Ser74Arg)
20g.63415115C>ACA409646918KCNQ2c.1259G>T (p.Ser420Ile)
c.1313G>T (p.Ser438Ile)
c.710G>T (p.Ser237Ile)
n.75-25G>T
c.1248-25G>T (n.1248-25G>T)
c.906-25G>T (n.906-25G>T)
c.1229G>T (p.Ser410Ile)
c.1218-25G>T (n.1218-25G>T)
c.373G>T
c.1283G>T (p.Ser428Ile)
c.1187G>T (p.Ser396Ile)
c.794G>T (p.Ser265Ile)
c.1190G>T (p.Ser397Ile)
c.221G>T (p.Ser74Ile)
 gnomAD v4
20g.63415115C=CA2374778863KCNQ2c.1259G= (p.Ser420=)
c.1313G= (p.Ser438=)
c.710G= (p.Ser237=)
n.75-25G=
c.1248-25G= (n.1248-25G=)
c.906-25G= (n.906-25G=)
c.1229G= (p.Ser410=)
c.1218-25G= (n.1218-25G=)
c.373G=
c.1283G= (p.Ser428=)
c.1187G= (p.Ser396=)
c.794G= (p.Ser265=)
c.1190G= (p.Ser397=)
c.221G= (p.Ser74=)
20g.63415115C>GCA9958475KCNQ2c.1259G>C (p.Ser420Thr)
c.1313G>C (p.Ser438Thr)
c.710G>C (p.Ser237Thr)
n.75-25G>C
c.1248-25G>C (n.1248-25G>C)
c.906-25G>C (n.906-25G>C)
c.1229G>C (p.Ser410Thr)
c.1218-25G>C (n.1218-25G>C)
c.373G>C
c.1283G>C (p.Ser428Thr)
c.1187G>C (p.Ser396Thr)
c.794G>C (p.Ser265Thr)
c.1190G>C (p.Ser397Thr)
c.221G>C (p.Ser74Thr)
 dbSNP ExAC gnomAD v2
20g.63415115C>TCA409646915KCNQ2c.1259G>A (p.Ser420Asn)
c.1313G>A (p.Ser438Asn)
c.710G>A (p.Ser237Asn)
n.75-25G>A
c.1248-25G>A (n.1248-25G>A)
c.906-25G>A (n.906-25G>A)
c.1229G>A (p.Ser410Asn)
c.1218-25G>A (n.1218-25G>A)
c.373G>A
c.1283G>A (p.Ser428Asn)
c.1187G>A (p.Ser396Asn)
c.794G>A (p.Ser265Asn)
c.1190G>A (p.Ser397Asn)
c.221G>A (p.Ser74Asn)
 gnomAD v4
20g.63415116T>ACA409646919KCNQ2c.1258A>T (p.Ser420Cys)
c.1312A>T (p.Ser438Cys)
c.709A>T (p.Ser237Cys)
n.75-26A>T
c.1248-26A>T (n.1248-26A>T)
c.906-26A>T (n.906-26A>T)
c.1228A>T (p.Ser410Cys)
c.1218-26A>T (n.1218-26A>T)
c.372A>T
c.1282A>T (p.Ser428Cys)
c.1186A>T (p.Ser396Cys)
c.793A>T (p.Ser265Cys)
c.1189A>T (p.Ser397Cys)
c.220A>T (p.Ser74Cys)
20g.63415116T>CCA409646922KCNQ2c.1258A>G (p.Ser420Gly)
c.1312A>G (p.Ser438Gly)
c.709A>G (p.Ser237Gly)
n.75-26A>G
c.1248-26A>G (n.1248-26A>G)
c.906-26A>G (n.906-26A>G)
c.1228A>G (p.Ser410Gly)
c.1218-26A>G (n.1218-26A>G)
c.372A>G
c.1282A>G (p.Ser428Gly)
c.1186A>G (p.Ser396Gly)
c.793A>G (p.Ser265Gly)
c.1189A>G (p.Ser397Gly)
c.220A>G (p.Ser74Gly)
20g.63415116T>GCA409646925KCNQ2c.1258A>C (p.Ser420Arg)
c.1312A>C (p.Ser438Arg)
c.709A>C (p.Ser237Arg)
n.75-26A>C
c.1248-26A>C (n.1248-26A>C)
c.906-26A>C (n.906-26A>C)
c.1228A>C (p.Ser410Arg)
c.1218-26A>C (n.1218-26A>C)
c.372A>C
c.1282A>C (p.Ser428Arg)
c.1186A>C (p.Ser396Arg)
c.793A>C (p.Ser265Arg)
c.1189A>C (p.Ser397Arg)
c.220A>C (p.Ser74Arg)
20g.63415117G>ACA511339637KCNQ2c.1257C>T (p.Val419=)
c.1311C>T (p.Val437=)
c.708C>T (p.Val236=)
n.75-27C>T
c.1248-27C>T (n.1248-27C>T)
c.906-27C>T (n.906-27C>T)
c.1227C>T (p.Val409=)
c.1218-27C>T (n.1218-27C>T)
c.371C>T
c.1281C>T (p.Val427=)
c.1185C>T (p.Val395=)
c.792C>T (p.Val264=)
c.1188C>T (p.Val396=)
c.219C>T (p.Val73=)
20g.63415117G>CCA511339638KCNQ2c.1257C>G (p.Val419=)
c.1311C>G (p.Val437=)
c.708C>G (p.Val236=)
n.75-27C>G
c.1248-27C>G (n.1248-27C>G)
c.906-27C>G (n.906-27C>G)
c.1227C>G (p.Val409=)
c.1218-27C>G (n.1218-27C>G)
c.371C>G
c.1281C>G (p.Val427=)
c.1185C>G (p.Val395=)
c.792C>G (p.Val264=)
c.1188C>G (p.Val396=)
c.219C>G (p.Val73=)
20g.63415117G>TCA511339639KCNQ2c.1257C>A (p.Val419=)
c.1311C>A (p.Val437=)
c.708C>A (p.Val236=)
n.75-27C>A
c.1248-27C>A (n.1248-27C>A)
c.906-27C>A (n.906-27C>A)
c.1227C>A (p.Val409=)
c.1218-27C>A (n.1218-27C>A)
c.371C>A
c.1281C>A (p.Val427=)
c.1185C>A (p.Val395=)
c.792C>A (p.Val264=)
c.1188C>A (p.Val396=)
c.219C>A (p.Val73=)
 gnomAD v4
20g.63415118A>CCA409646926KCNQ2c.1256T>G (p.Val419Gly)
c.1310T>G (p.Val437Gly)
c.707T>G (p.Val236Gly)
n.75-28T>G
c.1248-28T>G (n.1248-28T>G)
c.906-28T>G (n.906-28T>G)
c.1226T>G (p.Val409Gly)
c.1218-28T>G (n.1218-28T>G)
c.370T>G
c.1280T>G (p.Val427Gly)
c.1184T>G (p.Val395Gly)
c.791T>G (p.Val264Gly)
c.1187T>G (p.Val396Gly)
c.218T>G (p.Val73Gly)
20g.63415118A>GCA409646929KCNQ2c.1256T>C (p.Val419Ala)
c.1310T>C (p.Val437Ala)
c.707T>C (p.Val236Ala)
n.75-28T>C
c.1248-28T>C (n.1248-28T>C)
c.906-28T>C (n.906-28T>C)
c.1226T>C (p.Val409Ala)
c.1218-28T>C (n.1218-28T>C)
c.370T>C
c.1280T>C (p.Val427Ala)
c.1184T>C (p.Val395Ala)
c.791T>C (p.Val264Ala)
c.1187T>C (p.Val396Ala)
c.218T>C (p.Val73Ala)
20g.63415118A>TCA409646930KCNQ2c.1256T>A (p.Val419Asp)
c.1310T>A (p.Val437Asp)
c.707T>A (p.Val236Asp)
n.75-28T>A
c.1248-28T>A (n.1248-28T>A)
c.906-28T>A (n.906-28T>A)
c.1226T>A (p.Val409Asp)
c.1218-28T>A (n.1218-28T>A)
c.370T>A
c.1280T>A (p.Val427Asp)
c.1184T>A (p.Val395Asp)
c.791T>A (p.Val264Asp)
c.1187T>A (p.Val396Asp)
c.218T>A (p.Val73Asp)
20g.63415119C>ACA409646933KCNQ2c.1255G>T (p.Val419Phe)
c.1309G>T (p.Val437Phe)
c.706G>T (p.Val236Phe)
n.75-29G>T
c.1248-29G>T (n.1248-29G>T)
c.906-29G>T (n.906-29G>T)
c.1225G>T (p.Val409Phe)
c.1218-29G>T (n.1218-29G>T)
c.369G>T
c.1279G>T (p.Val427Phe)
c.1183G>T (p.Val395Phe)
c.790G>T (p.Val264Phe)
c.1186G>T (p.Val396Phe)
c.217G>T (p.Val73Phe)
20g.63415119C=CA2374778864KCNQ2c.1255G= (p.Val419=)
c.1309G= (p.Val437=)
c.706G= (p.Val236=)
n.75-29G=
c.1248-29G= (n.1248-29G=)
c.906-29G= (n.906-29G=)
c.1225G= (p.Val409=)
c.1218-29G= (n.1218-29G=)
c.369G=
c.1279G= (p.Val427=)
c.1183G= (p.Val395=)
c.790G= (p.Val264=)
c.1186G= (p.Val396=)
c.217G= (p.Val73=)
20g.63415119C>GCA409646936KCNQ2c.1255G>C (p.Val419Leu)
c.1309G>C (p.Val437Leu)
c.706G>C (p.Val236Leu)
n.75-29G>C
c.1248-29G>C (n.1248-29G>C)
c.906-29G>C (n.906-29G>C)
c.1225G>C (p.Val409Leu)
c.1218-29G>C (n.1218-29G>C)
c.369G>C
c.1279G>C (p.Val427Leu)
c.1183G>C (p.Val395Leu)
c.790G>C (p.Val264Leu)
c.1186G>C (p.Val396Leu)
c.217G>C (p.Val73Leu)
 gnomAD v4
20g.63415119C>TCA9958476KCNQ2c.1255G>A (p.Val419Ile)
c.1309G>A (p.Val437Ile)
c.706G>A (p.Val236Ile)
n.75-29G>A
c.1248-29G>A (n.1248-29G>A)
c.906-29G>A (n.906-29G>A)
c.1225G>A (p.Val409Ile)
c.1218-29G>A (n.1218-29G>A)
c.369G>A
c.1279G>A (p.Val427Ile)
c.1183G>A (p.Val395Ile)
c.790G>A (p.Val264Ile)
c.1186G>A (p.Val396Ile)
c.217G>A (p.Val73Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415120C>ACA409646938KCNQ2c.1254G>T (p.Lys418Asn)
c.1308G>T (p.Lys436Asn)
c.705G>T (p.Lys235Asn)
n.75-30G>T
c.1248-30G>T (n.1248-30G>T)
c.906-30G>T (n.906-30G>T)
c.1224G>T (p.Lys408Asn)
c.1218-30G>T (n.1218-30G>T)
c.368G>T
c.1278G>T (p.Lys426Asn)
c.1182G>T (p.Lys394Asn)
c.789G>T (p.Lys263Asn)
c.1185G>T (p.Lys395Asn)
c.216G>T (p.Lys72Asn)
20g.63415120C=CA2374778865KCNQ2c.1254G= (p.Lys418=)
c.1308G= (p.Lys436=)
c.705G= (p.Lys235=)
n.75-30G=
c.1248-30G= (n.1248-30G=)
c.906-30G= (n.906-30G=)
c.1224G= (p.Lys408=)
c.1218-30G= (n.1218-30G=)
c.368G=
c.1278G= (p.Lys426=)
c.1182G= (p.Lys394=)
c.789G= (p.Lys263=)
c.1185G= (p.Lys395=)
c.216G= (p.Lys72=)
20g.63415120C>GCA409646940KCNQ2c.1254G>C (p.Lys418Asn)
c.1308G>C (p.Lys436Asn)
c.705G>C (p.Lys235Asn)
n.75-30G>C
c.1248-30G>C (n.1248-30G>C)
c.906-30G>C (n.906-30G>C)
c.1224G>C (p.Lys408Asn)
c.1218-30G>C (n.1218-30G>C)
c.368G>C
c.1278G>C (p.Lys426Asn)
c.1182G>C (p.Lys394Asn)
c.789G>C (p.Lys263Asn)
c.1185G>C (p.Lys395Asn)
c.216G>C (p.Lys72Asn)
20g.63415120C>TCA317431183KCNQ2c.1254G>A (p.Lys418=)
c.1308G>A (p.Lys436=)
c.705G>A (p.Lys235=)
n.75-30G>A
c.1248-30G>A (n.1248-30G>A)
c.906-30G>A (n.906-30G>A)
c.1224G>A (p.Lys408=)
c.1218-30G>A (n.1218-30G>A)
c.368G>A
c.1278G>A (p.Lys426=)
c.1182G>A (p.Lys394=)
c.789G>A (p.Lys263=)
c.1185G>A (p.Lys395=)
c.216G>A (p.Lys72=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415121T>ACA409646946KCNQ2c.1253A>T (p.Lys418Met)
c.1307A>T (p.Lys436Met)
c.704A>T (p.Lys235Met)
n.75-31A>T
c.1248-31A>T (n.1248-31A>T)
c.906-31A>T (n.906-31A>T)
c.1223A>T (p.Lys408Met)
c.1218-31A>T (n.1218-31A>T)
c.367A>T
c.1277A>T (p.Lys426Met)
c.1181A>T (p.Lys394Met)
c.788A>T (p.Lys263Met)
c.1184A>T (p.Lys395Met)
c.215A>T (p.Lys72Met)
20g.63415121T>CCA409646944KCNQ2c.1253A>G (p.Lys418Arg)
c.1307A>G (p.Lys436Arg)
c.704A>G (p.Lys235Arg)
n.75-31A>G
c.1248-31A>G (n.1248-31A>G)
c.906-31A>G (n.906-31A>G)
c.1223A>G (p.Lys408Arg)
c.1218-31A>G (n.1218-31A>G)
c.367A>G
c.1277A>G (p.Lys426Arg)
c.1181A>G (p.Lys394Arg)
c.788A>G (p.Lys263Arg)
c.1184A>G (p.Lys395Arg)
c.215A>G (p.Lys72Arg)
20g.63415121T>GCA409646943KCNQ2c.1253A>C (p.Lys418Thr)
c.1307A>C (p.Lys436Thr)
c.704A>C (p.Lys235Thr)
n.75-31A>C
c.1248-31A>C (n.1248-31A>C)
c.906-31A>C (n.906-31A>C)
c.1223A>C (p.Lys408Thr)
c.1218-31A>C (n.1218-31A>C)
c.367A>C
c.1277A>C (p.Lys426Thr)
c.1181A>C (p.Lys394Thr)
c.788A>C (p.Lys263Thr)
c.1184A>C (p.Lys395Thr)
c.215A>C (p.Lys72Thr)
20g.63415122T>ACA409646949KCNQ2c.1252A>T (p.Lys418Ter)
c.1306A>T (p.Lys436Ter)
c.703A>T (p.Lys235Ter)
n.75-32A>T
c.1248-32A>T (n.1248-32A>T)
c.906-32A>T (n.906-32A>T)
c.1222A>T (p.Lys408Ter)
c.1218-32A>T (n.1218-32A>T)
c.366A>T
c.1276A>T (p.Lys426Ter)
c.1180A>T (p.Lys394Ter)
c.787A>T (p.Lys263Ter)
c.1183A>T (p.Lys395Ter)
c.214A>T (p.Lys72Ter)
20g.63415122T>CCA409646951KCNQ2c.1252A>G (p.Lys418Glu)
c.1306A>G (p.Lys436Glu)
c.703A>G (p.Lys235Glu)
n.75-32A>G
c.1248-32A>G (n.1248-32A>G)
c.906-32A>G (n.906-32A>G)
c.1222A>G (p.Lys408Glu)
c.1218-32A>G (n.1218-32A>G)
c.366A>G
c.1276A>G (p.Lys426Glu)
c.1180A>G (p.Lys394Glu)
c.787A>G (p.Lys263Glu)
c.1183A>G (p.Lys395Glu)
c.214A>G (p.Lys72Glu)
20g.63415122T>GCA409646954KCNQ2c.1252A>C (p.Lys418Gln)
c.1306A>C (p.Lys436Gln)
c.703A>C (p.Lys235Gln)
n.75-32A>C
c.1248-32A>C (n.1248-32A>C)
c.906-32A>C (n.906-32A>C)
c.1222A>C (p.Lys408Gln)
c.1218-32A>C (n.1218-32A>C)
c.366A>C
c.1276A>C (p.Lys426Gln)
c.1180A>C (p.Lys394Gln)
c.787A>C (p.Lys263Gln)
c.1183A>C (p.Lys395Gln)
c.214A>C (p.Lys72Gln)
20g.63415123C>ACA409646956KCNQ2c.1251G>T (p.Gln417His)
c.1305G>T (p.Gln435His)
c.702G>T (p.Gln234His)
n.75-33G>T
c.1248-33G>T (n.1248-33G>T)
c.906-33G>T (n.906-33G>T)
c.1221G>T (p.Gln407His)
c.1218-33G>T (n.1218-33G>T)
c.365G>T
c.1275G>T (p.Gln425His)
c.1179G>T (p.Gln393His)
c.786G>T (p.Gln262His)
c.1182G>T (p.Gln394His)
c.213G>T (p.Gln71His)
20g.63415123C>GCA409646959KCNQ2c.1251G>C (p.Gln417His)
c.1305G>C (p.Gln435His)
c.702G>C (p.Gln234His)
n.75-33G>C
c.1248-33G>C (n.1248-33G>C)
c.906-33G>C (n.906-33G>C)
c.1221G>C (p.Gln407His)
c.1218-33G>C (n.1218-33G>C)
c.365G>C
c.1275G>C (p.Gln425His)
c.1179G>C (p.Gln393His)
c.786G>C (p.Gln262His)
c.1182G>C (p.Gln394His)
c.213G>C (p.Gln71His)
 gnomAD v4
20g.63415123C>TCA511339649KCNQ2c.1251G>A (p.Gln417=)
c.1305G>A (p.Gln435=)
c.702G>A (p.Gln234=)
n.75-33G>A
c.1248-33G>A (n.1248-33G>A)
c.906-33G>A (n.906-33G>A)
c.1221G>A (p.Gln407=)
c.1218-33G>A (n.1218-33G>A)
c.365G>A
c.1275G>A (p.Gln425=)
c.1179G>A (p.Gln393=)
c.786G>A (p.Gln262=)
c.1182G>A (p.Gln394=)
c.213G>A (p.Gln71=)
20g.63415124T>ACA409646961KCNQ2c.1250A>T (p.Gln417Leu)
c.1304A>T (p.Gln435Leu)
c.701A>T (p.Gln234Leu)
n.75-34A>T
c.1248-34A>T (n.1248-34A>T)
c.906-34A>T (n.906-34A>T)
c.1220A>T (p.Gln407Leu)
c.1218-34A>T (n.1218-34A>T)
c.364A>T
c.1274A>T (p.Gln425Leu)
c.1178A>T (p.Gln393Leu)
c.785A>T (p.Gln262Leu)
c.1181A>T (p.Gln394Leu)
c.212A>T (p.Gln71Leu)
20g.63415124T>CCA409646967KCNQ2c.1250A>G (p.Gln417Arg)
c.1304A>G (p.Gln435Arg)
c.701A>G (p.Gln234Arg)
n.75-34A>G
c.1248-34A>G (n.1248-34A>G)
c.906-34A>G (n.906-34A>G)
c.1220A>G (p.Gln407Arg)
c.1218-34A>G (n.1218-34A>G)
c.364A>G
c.1274A>G (p.Gln425Arg)
c.1178A>G (p.Gln393Arg)
c.785A>G (p.Gln262Arg)
c.1181A>G (p.Gln394Arg)
c.212A>G (p.Gln71Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.63415124T>GCA409646970KCNQ2c.1250A>C (p.Gln417Pro)
c.1304A>C (p.Gln435Pro)
c.701A>C (p.Gln234Pro)
n.75-34A>C
c.1248-34A>C (n.1248-34A>C)
c.906-34A>C (n.906-34A>C)
c.1220A>C (p.Gln407Pro)
c.1218-34A>C (n.1218-34A>C)
c.364A>C
c.1274A>C (p.Gln425Pro)
c.1178A>C (p.Gln393Pro)
c.785A>C (p.Gln262Pro)
c.1181A>C (p.Gln394Pro)
c.212A>C (p.Gln71Pro)
20g.63415124T=CA2374778866KCNQ2c.1250A= (p.Gln417=)
c.1304A= (p.Gln435=)
c.701A= (p.Gln234=)
n.75-34A=
c.1248-34A= (n.1248-34A=)
c.906-34A= (n.906-34A=)
c.1220A= (p.Gln407=)
c.1218-34A= (n.1218-34A=)
c.364A=
c.1274A= (p.Gln425=)
c.1178A= (p.Gln393=)
c.785A= (p.Gln262=)
c.1181A= (p.Gln394=)
c.212A= (p.Gln71=)
20g.63415125G>ACA409646974KCNQ2c.1249C>T (p.Gln417Ter)
c.1303C>T (p.Gln435Ter)
c.700C>T (p.Gln234Ter)
n.75-35C>T
c.1248-35C>T (n.1248-35C>T)
c.906-35C>T (n.906-35C>T)
c.1219C>T (p.Gln407Ter)
c.1218-35C>T (n.1218-35C>T)
c.363C>T
c.1273C>T (p.Gln425Ter)
c.1177C>T (p.Gln393Ter)
c.784C>T (p.Gln262Ter)
c.1180C>T (p.Gln394Ter)
c.211C>T (p.Gln71Ter)
 dbSNP gnomAD v3 gnomAD v4
20g.63415125G>CCA409646978KCNQ2c.1249C>G (p.Gln417Glu)
c.1303C>G (p.Gln435Glu)
c.700C>G (p.Gln234Glu)
n.75-35C>G
c.1248-35C>G (n.1248-35C>G)
c.906-35C>G (n.906-35C>G)
c.1219C>G (p.Gln407Glu)
c.1218-35C>G (n.1218-35C>G)
c.363C>G
c.1273C>G (p.Gln425Glu)
c.1177C>G (p.Gln393Glu)
c.784C>G (p.Gln262Glu)
c.1180C>G (p.Gln394Glu)
c.211C>G (p.Gln71Glu)
20g.63415125G=CA2374778867KCNQ2c.1249C= (p.Gln417=)
c.1303C= (p.Gln435=)
c.700C= (p.Gln234=)
n.75-35C=
c.1248-35C= (n.1248-35C=)
c.906-35C= (n.906-35C=)
c.1219C= (p.Gln407=)
c.1218-35C= (n.1218-35C=)
c.363C=
c.1273C= (p.Gln425=)
c.1177C= (p.Gln393=)
c.784C= (p.Gln262=)
c.1180C= (p.Gln394=)
c.211C= (p.Gln71=)
20g.63415125G>TCA409646981KCNQ2c.1249C>A (p.Gln417Lys)
c.1303C>A (p.Gln435Lys)
c.700C>A (p.Gln234Lys)
n.75-35C>A
c.1248-35C>A (n.1248-35C>A)
c.906-35C>A (n.906-35C>A)
c.1219C>A (p.Gln407Lys)
c.1218-35C>A (n.1218-35C>A)
c.363C>A
c.1273C>A (p.Gln425Lys)
c.1177C>A (p.Gln393Lys)
c.784C>A (p.Gln262Lys)
c.1180C>A (p.Gln394Lys)
c.211C>A (p.Gln71Lys)
 gnomAD v4
20g.63415126G>ACA511339653KCNQ2c.1248C>T (p.Ser416=)
c.1302C>T (p.Ser434=)
c.699C>T (p.Ser233=)
n.75-36C>T
c.1248-36C>T (n.1248-36C>T)
c.906-36C>T (n.906-36C>T)
c.1218C>T (p.Ser406=)
c.1218-36C>T (n.1218-36C>T)
c.362C>T
c.1272C>T (p.Ser424=)
c.1176C>T (p.Ser392=)
c.783C>T (p.Ser261=)
c.1179C>T (p.Ser393=)
c.210C>T (p.Ser70=)
 gnomAD v4
20g.63415126G>CCA409646983KCNQ2c.1248C>G (p.Ser416Arg)
c.1302C>G (p.Ser434Arg)
c.699C>G (p.Ser233Arg)
n.75-36C>G
c.1248-36C>G (n.1248-36C>G)
c.906-36C>G (n.906-36C>G)
c.1218C>G (p.Ser406Arg)
c.1218-36C>G (n.1218-36C>G)
c.362C>G
c.1272C>G (p.Ser424Arg)
c.1176C>G (p.Ser392Arg)
c.783C>G (p.Ser261Arg)
c.1179C>G (p.Ser393Arg)
c.210C>G (p.Ser70Arg)
20g.63415126G>TCA409646984KCNQ2c.1248C>A (p.Ser416Arg)
c.1302C>A (p.Ser434Arg)
c.699C>A (p.Ser233Arg)
n.75-36C>A
c.1248-36C>A (n.1248-36C>A)
c.906-36C>A (n.906-36C>A)
c.1218C>A (p.Ser406Arg)
c.1218-36C>A (n.1218-36C>A)
c.362C>A
c.1272C>A (p.Ser424Arg)
c.1176C>A (p.Ser392Arg)
c.783C>A (p.Ser261Arg)
c.1179C>A (p.Ser393Arg)
c.210C>A (p.Ser70Arg)
 gnomAD v4
20g.63415127C>ACA409646993KCNQ2c.1248-1G>T (n.1248-1G>T)
c.1302-1G>T (n.1302-1G>T)
c.699-1G>T (n.699-1G>T)
n.75-37G>T
c.1248-37G>T (n.1248-37G>T)
c.906-37G>T (n.906-37G>T)
c.1218-1G>T (n.1218-1G>T)
c.1218-37G>T (n.1218-37G>T)
c.362-1G>T
c.1272-1G>T (n.1272-1G>T)
c.1176-1G>T (n.1176-1G>T)
c.783-1G>T (n.783-1G>T)
c.1179-1G>T (n.1179-1G>T)
c.210-1G>T (n.210-1G>T)
 ClinVar
20g.63415127C=CA2374778868KCNQ2c.1248-1G= (n.1248-1G=)
c.1302-1G= (n.1302-1G=)
c.699-1G= (n.699-1G=)
n.75-37G=
c.1248-37G= (n.1248-37G=)
c.906-37G= (n.906-37G=)
c.1218-1G= (n.1218-1G=)
c.1218-37G= (n.1218-37G=)
c.362-1G=
c.1272-1G= (n.1272-1G=)
c.1176-1G= (n.1176-1G=)
c.783-1G= (n.783-1G=)
c.1179-1G= (n.1179-1G=)
c.210-1G= (n.210-1G=)
20g.63415127C>GCA342545KCNQ2c.1248-1G>C (n.1248-1G>C)
c.1302-1G>C (n.1302-1G>C)
c.699-1G>C (n.699-1G>C)
n.75-37G>C
c.1248-37G>C (n.1248-37G>C)
c.906-37G>C (n.906-37G>C)
c.1218-1G>C (n.1218-1G>C)
c.1218-37G>C (n.1218-37G>C)
c.362-1G>C
c.1272-1G>C (n.1272-1G>C)
c.1176-1G>C (n.1176-1G>C)
c.783-1G>C (n.783-1G>C)
c.1179-1G>C (n.1179-1G>C)
c.210-1G>C (n.210-1G>C)
 ClinVar dbSNP
20g.63415127C>TCA409646987KCNQ2c.1248-1G>A (n.1248-1G>A)
c.1302-1G>A (n.1302-1G>A)
c.699-1G>A (n.699-1G>A)
n.75-37G>A
c.1248-37G>A (n.1248-37G>A)
c.906-37G>A (n.906-37G>A)
c.1218-1G>A (n.1218-1G>A)
c.1218-37G>A (n.1218-37G>A)
c.362-1G>A
c.1272-1G>A (n.1272-1G>A)
c.1176-1G>A (n.1176-1G>A)
c.783-1G>A (n.783-1G>A)
c.1179-1G>A (n.1179-1G>A)
c.210-1G>A (n.210-1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63415128T>ACA409646998KCNQ2c.1248-2A>T (n.1248-2A>T)
c.1302-2A>T (n.1302-2A>T)
c.699-2A>T (n.699-2A>T)
n.75-38A>T
c.1248-38A>T (n.1248-38A>T)
c.906-38A>T (n.906-38A>T)
c.1218-2A>T (n.1218-2A>T)
c.1218-38A>T (n.1218-38A>T)
c.362-2A>T
c.1272-2A>T (n.1272-2A>T)
c.1176-2A>T (n.1176-2A>T)
c.783-2A>T (n.783-2A>T)
c.1179-2A>T (n.1179-2A>T)
c.210-2A>T (n.210-2A>T)
20g.63415128T>CCA409646996KCNQ2c.1248-2A>G (n.1248-2A>G)
c.1302-2A>G (n.1302-2A>G)
c.699-2A>G (n.699-2A>G)
n.75-38A>G
c.1248-38A>G (n.1248-38A>G)
c.906-38A>G (n.906-38A>G)
c.1218-2A>G (n.1218-2A>G)
c.1218-38A>G (n.1218-38A>G)
c.362-2A>G
c.1272-2A>G (n.1272-2A>G)
c.1176-2A>G (n.1176-2A>G)
c.783-2A>G (n.783-2A>G)
c.1179-2A>G (n.1179-2A>G)
c.210-2A>G (n.210-2A>G)
20g.63415128T>GCA409647001KCNQ2c.1248-2A>C (n.1248-2A>C)
c.1302-2A>C (n.1302-2A>C)
c.699-2A>C (n.699-2A>C)
n.75-38A>C
c.1248-38A>C (n.1248-38A>C)
c.906-38A>C (n.906-38A>C)
c.1218-2A>C (n.1218-2A>C)
c.1218-38A>C (n.1218-38A>C)
c.362-2A>C
c.1272-2A>C (n.1272-2A>C)
c.1176-2A>C (n.1176-2A>C)
c.783-2A>C (n.783-2A>C)
c.1179-2A>C (n.1179-2A>C)
c.210-2A>C (n.210-2A>C)
20g.63415129G>ACA2653800782KCNQ2c.1248-3C>T (n.1248-3C>T)
c.1302-3C>T (n.1302-3C>T)
c.699-3C>T (n.699-3C>T)
n.75-39C>T
c.1248-39C>T (n.1248-39C>T)
c.906-39C>T (n.906-39C>T)
c.1218-3C>T (n.1218-3C>T)
c.1218-39C>T (n.1218-39C>T)
c.362-3C>T
c.1272-3C>T (n.1272-3C>T)
c.1176-3C>T (n.1176-3C>T)
c.783-3C>T (n.783-3C>T)
c.1179-3C>T (n.1179-3C>T)
c.210-3C>T (n.210-3C>T)
 gnomAD v4
20g.63415129G>TCA2653800781KCNQ2c.1248-3C>A (n.1248-3C>A)
c.1302-3C>A (n.1302-3C>A)
c.699-3C>A (n.699-3C>A)
n.75-39C>A
c.1248-39C>A (n.1248-39C>A)
c.906-39C>A (n.906-39C>A)
c.1218-3C>A (n.1218-3C>A)
c.1218-39C>A (n.1218-39C>A)
c.362-3C>A
c.1272-3C>A (n.1272-3C>A)
c.1176-3C>A (n.1176-3C>A)
c.783-3C>A (n.783-3C>A)
c.1179-3C>A (n.1179-3C>A)
c.210-3C>A (n.210-3C>A)
 gnomAD v4
20g.63415130C>ACA2653800783KCNQ2c.1248-4G>T (n.1248-4G>T)
c.1302-4G>T (n.1302-4G>T)
c.699-4G>T (n.699-4G>T)
n.75-40G>T
c.1248-40G>T (n.1248-40G>T)
c.906-40G>T (n.906-40G>T)
c.1218-4G>T (n.1218-4G>T)
c.1218-40G>T (n.1218-40G>T)
c.362-4G>T
c.1272-4G>T (n.1272-4G>T)
c.1176-4G>T (n.1176-4G>T)
c.783-4G>T (n.783-4G>T)
c.1179-4G>T (n.1179-4G>T)
c.210-4G>T (n.210-4G>T)
 gnomAD v4
20g.63415130C=CA2374778869KCNQ2c.1248-4G= (n.1248-4G=)
c.1302-4G= (n.1302-4G=)
c.699-4G= (n.699-4G=)
n.75-40G=
c.1248-40G= (n.1248-40G=)
c.906-40G= (n.906-40G=)
c.1218-4G= (n.1218-4G=)
c.1218-40G= (n.1218-40G=)
c.362-4G=
c.1272-4G= (n.1272-4G=)
c.1176-4G= (n.1176-4G=)
c.783-4G= (n.783-4G=)
c.1179-4G= (n.1179-4G=)
c.210-4G= (n.210-4G=)
20g.63415130C>TCA317431185KCNQ2c.1248-4G>A (n.1248-4G>A)
c.1302-4G>A (n.1302-4G>A)
c.699-4G>A (n.699-4G>A)
n.75-40G>A
c.1248-40G>A (n.1248-40G>A)
c.906-40G>A (n.906-40G>A)
c.1218-4G>A (n.1218-4G>A)
c.1218-40G>A (n.1218-40G>A)
c.362-4G>A
c.1272-4G>A (n.1272-4G>A)
c.1176-4G>A (n.1176-4G>A)
c.783-4G>A (n.783-4G>A)
c.1179-4G>A (n.1179-4G>A)
c.210-4G>A (n.210-4G>A)
 dbSNP gnomAD v2 gnomAD v4
20g.63415132C=CA2374778870KCNQ2c.1248-6G= (n.1248-6G=)
c.1302-6G= (n.1302-6G=)
c.699-6G= (n.699-6G=)
n.75-42G=
c.1248-42G= (n.1248-42G=)
c.906-42G= (n.906-42G=)
c.1218-6G= (n.1218-6G=)
c.1218-42G= (n.1218-42G=)
c.362-6G=
c.1272-6G= (n.1272-6G=)
c.1176-6G= (n.1176-6G=)
c.783-6G= (n.783-6G=)
c.1179-6G= (n.1179-6G=)
c.210-6G= (n.210-6G=)
20g.63415132C>GCA2739277259KCNQ2c.1248-6G>C (n.1248-6G>C)
c.1302-6G>C (n.1302-6G>C)
c.699-6G>C (n.699-6G>C)
n.75-42G>C
c.1248-42G>C (n.1248-42G>C)
c.906-42G>C (n.906-42G>C)
c.1218-6G>C (n.1218-6G>C)
c.1218-42G>C (n.1218-42G>C)
c.362-6G>C
c.1272-6G>C (n.1272-6G>C)
c.1176-6G>C (n.1176-6G>C)
c.783-6G>C (n.783-6G>C)
c.1179-6G>C (n.1179-6G>C)
c.210-6G>C (n.210-6G>C)
 ClinVar
20g.63415132C>TCA9958477KCNQ2c.1248-6G>A (n.1248-6G>A)
c.1302-6G>A (n.1302-6G>A)
c.699-6G>A (n.699-6G>A)
n.75-42G>A
c.1248-42G>A (n.1248-42G>A)
c.906-42G>A (n.906-42G>A)
c.1218-6G>A (n.1218-6G>A)
c.1218-42G>A (n.1218-42G>A)
c.362-6G>A
c.1272-6G>A (n.1272-6G>A)
c.1176-6G>A (n.1176-6G>A)
c.783-6G>A (n.783-6G>A)
c.1179-6G>A (n.1179-6G>A)
c.210-6G>A (n.210-6G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415133C>ACA636614197KCNQ2c.1248-7G>T (n.1248-7G>T)
c.1302-7G>T (n.1302-7G>T)
c.699-7G>T (n.699-7G>T)
n.75-43G>T
c.1248-43G>T (n.1248-43G>T)
c.906-43G>T (n.906-43G>T)
c.1218-7G>T (n.1218-7G>T)
c.1218-43G>T (n.1218-43G>T)
c.362-7G>T
c.1272-7G>T (n.1272-7G>T)
c.1176-7G>T (n.1176-7G>T)
c.783-7G>T (n.783-7G>T)
c.1179-7G>T (n.1179-7G>T)
c.210-7G>T (n.210-7G>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63415133C=CA2374778871KCNQ2c.1248-7G= (n.1248-7G=)
c.1302-7G= (n.1302-7G=)
c.699-7G= (n.699-7G=)
n.75-43G=
c.1248-43G= (n.1248-43G=)
c.906-43G= (n.906-43G=)
c.1218-7G= (n.1218-7G=)
c.1218-43G= (n.1218-43G=)
c.362-7G=
c.1272-7G= (n.1272-7G=)
c.1176-7G= (n.1176-7G=)
c.783-7G= (n.783-7G=)
c.1179-7G= (n.1179-7G=)
c.210-7G= (n.210-7G=)
20g.63415134C>ACA636614198KCNQ2c.1248-8G>T (n.1248-8G>T)
c.1302-8G>T (n.1302-8G>T)
c.699-8G>T (n.699-8G>T)
n.75-44G>T
c.1248-44G>T (n.1248-44G>T)
c.906-44G>T (n.906-44G>T)
c.1218-8G>T (n.1218-8G>T)
c.1218-44G>T (n.1218-44G>T)
c.362-8G>T
c.1272-8G>T (n.1272-8G>T)
c.1176-8G>T (n.1176-8G>T)
c.783-8G>T (n.783-8G>T)
c.1179-8G>T (n.1179-8G>T)
c.210-8G>T (n.210-8G>T)
 dbSNP gnomAD v2
20g.63415134C=CA2374778872KCNQ2c.1248-8G= (n.1248-8G=)
c.1302-8G= (n.1302-8G=)
c.699-8G= (n.699-8G=)
n.75-44G=
c.1248-44G= (n.1248-44G=)
c.906-44G= (n.906-44G=)
c.1218-8G= (n.1218-8G=)
c.1218-44G= (n.1218-44G=)
c.362-8G=
c.1272-8G= (n.1272-8G=)
c.1176-8G= (n.1176-8G=)
c.783-8G= (n.783-8G=)
c.1179-8G= (n.1179-8G=)
c.210-8G= (n.210-8G=)
20g.63415134C>GCA2653800788KCNQ2c.1248-8G>C (n.1248-8G>C)
c.1302-8G>C (n.1302-8G>C)
c.699-8G>C (n.699-8G>C)
n.75-44G>C
c.1248-44G>C (n.1248-44G>C)
c.906-44G>C (n.906-44G>C)
c.1218-8G>C (n.1218-8G>C)
c.1218-44G>C (n.1218-44G>C)
c.362-8G>C
c.1272-8G>C (n.1272-8G>C)
c.1176-8G>C (n.1176-8G>C)
c.783-8G>C (n.783-8G>C)
c.1179-8G>C (n.1179-8G>C)
c.210-8G>C (n.210-8G>C)
 gnomAD v4
20g.63415134C>TCA636614199KCNQ2c.1248-8G>A (n.1248-8G>A)
c.1302-8G>A (n.1302-8G>A)
c.699-8G>A (n.699-8G>A)
n.75-44G>A
c.1248-44G>A (n.1248-44G>A)
c.906-44G>A (n.906-44G>A)
c.1218-8G>A (n.1218-8G>A)
c.1218-44G>A (n.1218-44G>A)
c.362-8G>A
c.1272-8G>A (n.1272-8G>A)
c.1176-8G>A (n.1176-8G>A)
c.783-8G>A (n.783-8G>A)
c.1179-8G>A (n.1179-8G>A)
c.210-8G>A (n.210-8G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415135A>GCA2563772450KCNQ2c.1248-9T>C (n.1248-9T>C)
c.1302-9T>C (n.1302-9T>C)
c.699-9T>C (n.699-9T>C)
n.75-45T>C
c.1248-45T>C (n.1248-45T>C)
c.906-45T>C (n.906-45T>C)
c.1218-9T>C (n.1218-9T>C)
c.1218-45T>C (n.1218-45T>C)
c.362-9T>C
c.1272-9T>C (n.1272-9T>C)
c.1176-9T>C (n.1176-9T>C)
c.783-9T>C (n.783-9T>C)
c.1179-9T>C (n.1179-9T>C)
c.210-9T>C (n.210-9T>C)
20g.63415136C=CA2374778873KCNQ2c.1248-10G= (n.1248-10G=)
c.1302-10G= (n.1302-10G=)
c.699-10G= (n.699-10G=)
n.75-46G=
c.1248-46G= (n.1248-46G=)
c.906-46G= (n.906-46G=)
c.1218-10G= (n.1218-10G=)
c.1218-46G= (n.1218-46G=)
c.362-10G=
c.1272-10G= (n.1272-10G=)
c.1176-10G= (n.1176-10G=)
c.783-10G= (n.783-10G=)
c.1179-10G= (n.1179-10G=)
c.210-10G= (n.210-10G=)
20g.63415136C>TCA9958478KCNQ2c.1248-10G>A (n.1248-10G>A)
c.1302-10G>A (n.1302-10G>A)
c.699-10G>A (n.699-10G>A)
n.75-46G>A
c.1248-46G>A (n.1248-46G>A)
c.906-46G>A (n.906-46G>A)
c.1218-10G>A (n.1218-10G>A)
c.1218-46G>A (n.1218-46G>A)
c.362-10G>A
c.1272-10G>A (n.1272-10G>A)
c.1176-10G>A (n.1176-10G>A)
c.783-10G>A (n.783-10G>A)
c.1179-10G>A (n.1179-10G>A)
c.210-10G>A (n.210-10G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415137G>ACA291794KCNQ2c.1248-11C>T (n.1248-11C>T)
c.1302-11C>T (n.1302-11C>T)
c.699-11C>T (n.699-11C>T)
n.75-47C>T
c.1248-47C>T (n.1248-47C>T)
c.906-47C>T (n.906-47C>T)
c.1218-11C>T (n.1218-11C>T)
c.1218-47C>T (n.1218-47C>T)
c.362-11C>T
c.1272-11C>T (n.1272-11C>T)
c.1176-11C>T (n.1176-11C>T)
c.783-11C>T (n.783-11C>T)
c.1179-11C>T (n.1179-11C>T)
c.210-11C>T (n.210-11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415137G>CCA291793KCNQ2c.1248-11C>G (n.1248-11C>G)
c.1302-11C>G (n.1302-11C>G)
c.699-11C>G (n.699-11C>G)
n.75-47C>G
c.1248-47C>G (n.1248-47C>G)
c.906-47C>G (n.906-47C>G)
c.1218-11C>G (n.1218-11C>G)
c.1218-47C>G (n.1218-47C>G)
c.362-11C>G
c.1272-11C>G (n.1272-11C>G)
c.1176-11C>G (n.1176-11C>G)
c.783-11C>G (n.783-11C>G)
c.1179-11C>G (n.1179-11C>G)
c.210-11C>G (n.210-11C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415137G=CA2374778874KCNQ2c.1248-11C= (n.1248-11C=)
c.1302-11C= (n.1302-11C=)
c.699-11C= (n.699-11C=)
n.75-47C=
c.1248-47C= (n.1248-47C=)
c.906-47C= (n.906-47C=)
c.1218-11C= (n.1218-11C=)
c.1218-47C= (n.1218-47C=)
c.362-11C=
c.1272-11C= (n.1272-11C=)
c.1176-11C= (n.1176-11C=)
c.783-11C= (n.783-11C=)
c.1179-11C= (n.1179-11C=)
c.210-11C= (n.210-11C=)
20g.63415137G>TCA2653800792KCNQ2c.1248-11C>A (n.1248-11C>A)
c.1302-11C>A (n.1302-11C>A)
c.699-11C>A (n.699-11C>A)
n.75-47C>A
c.1248-47C>A (n.1248-47C>A)
c.906-47C>A (n.906-47C>A)
c.1218-11C>A (n.1218-11C>A)
c.1218-47C>A (n.1218-47C>A)
c.362-11C>A
c.1272-11C>A (n.1272-11C>A)
c.1176-11C>A (n.1176-11C>A)
c.783-11C>A (n.783-11C>A)
c.1179-11C>A (n.1179-11C>A)
c.210-11C>A (n.210-11C>A)
 gnomAD v4
20g.63415138G>ACA636614200KCNQ2c.1248-12C>T (n.1248-12C>T)
c.1302-12C>T (n.1302-12C>T)
c.699-12C>T (n.699-12C>T)
n.75-48C>T
c.1248-48C>T (n.1248-48C>T)
c.906-48C>T (n.906-48C>T)
c.1218-12C>T (n.1218-12C>T)
c.1218-48C>T (n.1218-48C>T)
c.362-12C>T
c.1272-12C>T (n.1272-12C>T)
c.1176-12C>T (n.1176-12C>T)
c.783-12C>T (n.783-12C>T)
c.1179-12C>T (n.1179-12C>T)
c.210-12C>T (n.210-12C>T)
 ClinVar dbSNP gnomAD v2
20g.63415138G>CCA2577453667KCNQ2c.1248-12C>G (n.1248-12C>G)
c.1302-12C>G (n.1302-12C>G)
c.699-12C>G (n.699-12C>G)
n.75-48C>G
c.1248-48C>G (n.1248-48C>G)
c.906-48C>G (n.906-48C>G)
c.1218-12C>G (n.1218-12C>G)
c.1218-48C>G (n.1218-48C>G)
c.362-12C>G
c.1272-12C>G (n.1272-12C>G)
c.1176-12C>G (n.1176-12C>G)
c.783-12C>G (n.783-12C>G)
c.1179-12C>G (n.1179-12C>G)
c.210-12C>G (n.210-12C>G)
20g.63415138G=CA2374778875KCNQ2c.1248-12C= (n.1248-12C=)
c.1302-12C= (n.1302-12C=)
c.699-12C= (n.699-12C=)
n.75-48C=
c.1248-48C= (n.1248-48C=)
c.906-48C= (n.906-48C=)
c.1218-12C= (n.1218-12C=)
c.1218-48C= (n.1218-48C=)
c.362-12C=
c.1272-12C= (n.1272-12C=)
c.1176-12C= (n.1176-12C=)
c.783-12C= (n.783-12C=)
c.1179-12C= (n.1179-12C=)
c.210-12C= (n.210-12C=)
20g.63415138G>TCA2653800796KCNQ2c.1248-12C>A (n.1248-12C>A)
c.1302-12C>A (n.1302-12C>A)
c.699-12C>A (n.699-12C>A)
n.75-48C>A
c.1248-48C>A (n.1248-48C>A)
c.906-48C>A (n.906-48C>A)
c.1218-12C>A (n.1218-12C>A)
c.1218-48C>A (n.1218-48C>A)
c.362-12C>A
c.1272-12C>A (n.1272-12C>A)
c.1176-12C>A (n.1176-12C>A)
c.783-12C>A (n.783-12C>A)
c.1179-12C>A (n.1179-12C>A)
c.210-12C>A (n.210-12C>A)
 gnomAD v4
20g.63415139G>ACA636614201KCNQ2c.1248-13C>T (n.1248-13C>T)
c.1302-13C>T (n.1302-13C>T)
c.699-13C>T (n.699-13C>T)
n.75-49C>T
c.1248-49C>T (n.1248-49C>T)
c.906-49C>T (n.906-49C>T)
c.1218-13C>T (n.1218-13C>T)
c.1218-49C>T (n.1218-49C>T)
c.362-13C>T
c.1272-13C>T (n.1272-13C>T)
c.1176-13C>T (n.1176-13C>T)
c.783-13C>T (n.783-13C>T)
c.1179-13C>T (n.1179-13C>T)
c.210-13C>T (n.210-13C>T)
 dbSNP gnomAD v2 gnomAD v4
20g.63415139G=CA2374778876KCNQ2c.1248-13C= (n.1248-13C=)
c.1302-13C= (n.1302-13C=)
c.699-13C= (n.699-13C=)
n.75-49C=
c.1248-49C= (n.1248-49C=)
c.906-49C= (n.906-49C=)
c.1218-13C= (n.1218-13C=)
c.1218-49C= (n.1218-49C=)
c.362-13C=
c.1272-13C= (n.1272-13C=)
c.1176-13C= (n.1176-13C=)
c.783-13C= (n.783-13C=)
c.1179-13C= (n.1179-13C=)
c.210-13C= (n.210-13C=)
20g.63415139G>TCA1019278061KCNQ2c.1248-13C>A (n.1248-13C>A)
c.1302-13C>A (n.1302-13C>A)
c.699-13C>A (n.699-13C>A)
n.75-49C>A
c.1248-49C>A (n.1248-49C>A)
c.906-49C>A (n.906-49C>A)
c.1218-13C>A (n.1218-13C>A)
c.1218-49C>A (n.1218-49C>A)
c.362-13C>A
c.1272-13C>A (n.1272-13C>A)
c.1176-13C>A (n.1176-13C>A)
c.783-13C>A (n.783-13C>A)
c.1179-13C>A (n.1179-13C>A)
c.210-13C>A (n.210-13C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63415140A=CA2374778877KCNQ2c.1248-14T= (n.1248-14T=)
c.1302-14T= (n.1302-14T=)
c.699-14T= (n.699-14T=)
n.75-50T=
c.1248-50T= (n.1248-50T=)
c.906-50T= (n.906-50T=)
c.1218-14T= (n.1218-14T=)
c.1218-50T= (n.1218-50T=)
c.362-14T=
c.1272-14T= (n.1272-14T=)
c.1176-14T= (n.1176-14T=)
c.783-14T= (n.783-14T=)
c.1179-14T= (n.1179-14T=)
c.210-14T= (n.210-14T=)
20g.63415140_63415141insCAACAGACCA746475547KCNQ2c.1248-15_1248-14insGTCTGTTG (n.1248-15_1248-14insGTCTGTTG)
c.1302-15_1302-14insGTCTGTTG (n.1302-15_1302-14insGTCTGTTG)
c.699-15_699-14insGTCTGTTG (n.699-15_699-14insGTCTGTTG)
n.75-51_75-50insGTCTGTTG
c.1248-51_1248-50insGTCTGTTG (n.1248-51_1248-50insGTCTGTTG)
c.906-51_906-50insGTCTGTTG (n.906-51_906-50insGTCTGTTG)
c.1218-15_1218-14insGTCTGTTG (n.1218-15_1218-14insGTCTGTTG)
c.1218-51_1218-50insGTCTGTTG (n.1218-51_1218-50insGTCTGTTG)
c.362-15_362-14insGTCTGTTG
c.1272-15_1272-14insGTCTGTTG (n.1272-15_1272-14insGTCTGTTG)
c.1176-15_1176-14insGTCTGTTG (n.1176-15_1176-14insGTCTGTTG)
c.783-15_783-14insGTCTGTTG (n.783-15_783-14insGTCTGTTG)
c.1179-15_1179-14insGTCTGTTG (n.1179-15_1179-14insGTCTGTTG)
c.210-15_210-14insGTCTGTTG (n.210-15_210-14insGTCTGTTG)
 dbSNP
20g.63415140_63415141insCCCAACAGCA2736855231KCNQ2c.1248-15_1248-14insCTGTTGGG (n.1248-15_1248-14insCTGTTGGG)
c.1302-15_1302-14insCTGTTGGG (n.1302-15_1302-14insCTGTTGGG)
c.699-15_699-14insCTGTTGGG (n.699-15_699-14insCTGTTGGG)
n.75-51_75-50insCTGTTGGG
c.1248-51_1248-50insCTGTTGGG (n.1248-51_1248-50insCTGTTGGG)
c.906-51_906-50insCTGTTGGG (n.906-51_906-50insCTGTTGGG)
c.1218-15_1218-14insCTGTTGGG (n.1218-15_1218-14insCTGTTGGG)
c.1218-51_1218-50insCTGTTGGG (n.1218-51_1218-50insCTGTTGGG)
c.362-15_362-14insCTGTTGGG
c.1272-15_1272-14insCTGTTGGG (n.1272-15_1272-14insCTGTTGGG)
c.1176-15_1176-14insCTGTTGGG (n.1176-15_1176-14insCTGTTGGG)
c.783-15_783-14insCTGTTGGG (n.783-15_783-14insCTGTTGGG)
c.1179-15_1179-14insCTGTTGGG (n.1179-15_1179-14insCTGTTGGG)
c.210-15_210-14insCTGTTGGG (n.210-15_210-14insCTGTTGGG)
 dbSNP
20g.63415142_63415143insAGACAGACCA2577453672KCNQ2c.1248-15_1248-14insCTGTCTGT (n.1248-15_1248-14insCTGTCTGT)
c.1302-15_1302-14insCTGTCTGT (n.1302-15_1302-14insCTGTCTGT)
c.699-15_699-14insCTGTCTGT (n.699-15_699-14insCTGTCTGT)
n.75-51_75-50insCTGTCTGT
c.1248-51_1248-50insCTGTCTGT (n.1248-51_1248-50insCTGTCTGT)
c.906-51_906-50insCTGTCTGT (n.906-51_906-50insCTGTCTGT)
c.1218-15_1218-14insCTGTCTGT (n.1218-15_1218-14insCTGTCTGT)
c.1218-51_1218-50insCTGTCTGT (n.1218-51_1218-50insCTGTCTGT)
c.362-15_362-14insCTGTCTGT
c.1272-15_1272-14insCTGTCTGT (n.1272-15_1272-14insCTGTCTGT)
c.1176-15_1176-14insCTGTCTGT (n.1176-15_1176-14insCTGTCTGT)
c.783-15_783-14insCTGTCTGT (n.783-15_783-14insCTGTCTGT)
c.1179-15_1179-14insCTGTCTGT (n.1179-15_1179-14insCTGTCTGT)
c.210-15_210-14insCTGTCTGT (n.210-15_210-14insCTGTCTGT)
20g.63415142_63415143insGGACAGACCA2577453669KCNQ2c.1248-15_1248-14insCTGTCCGT (n.1248-15_1248-14insCTGTCCGT)
c.1302-15_1302-14insCTGTCCGT (n.1302-15_1302-14insCTGTCCGT)
c.699-15_699-14insCTGTCCGT (n.699-15_699-14insCTGTCCGT)
n.75-51_75-50insCTGTCCGT
c.1248-51_1248-50insCTGTCCGT (n.1248-51_1248-50insCTGTCCGT)
c.906-51_906-50insCTGTCCGT (n.906-51_906-50insCTGTCCGT)
c.1218-15_1218-14insCTGTCCGT (n.1218-15_1218-14insCTGTCCGT)
c.1218-51_1218-50insCTGTCCGT (n.1218-51_1218-50insCTGTCCGT)
c.362-15_362-14insCTGTCCGT
c.1272-15_1272-14insCTGTCCGT (n.1272-15_1272-14insCTGTCCGT)
c.1176-15_1176-14insCTGTCCGT (n.1176-15_1176-14insCTGTCCGT)
c.783-15_783-14insCTGTCCGT (n.783-15_783-14insCTGTCCGT)
c.1179-15_1179-14insCTGTCCGT (n.1179-15_1179-14insCTGTCCGT)
c.210-15_210-14insCTGTCCGT (n.210-15_210-14insCTGTCCGT)
20g.63415142_63415143insTGACAGACCA2374778878KCNQ2c.1248-15_1248-14insCTGTCAGT (n.1248-15_1248-14insCTGTCAGT)
c.1302-15_1302-14insCTGTCAGT (n.1302-15_1302-14insCTGTCAGT)
c.699-15_699-14insCTGTCAGT (n.699-15_699-14insCTGTCAGT)
n.75-51_75-50insCTGTCAGT
c.1248-51_1248-50insCTGTCAGT (n.1248-51_1248-50insCTGTCAGT)
c.906-51_906-50insCTGTCAGT (n.906-51_906-50insCTGTCAGT)
c.1218-15_1218-14insCTGTCAGT (n.1218-15_1218-14insCTGTCAGT)
c.1218-51_1218-50insCTGTCAGT (n.1218-51_1218-50insCTGTCAGT)
c.362-15_362-14insCTGTCAGT
c.1272-15_1272-14insCTGTCAGT (n.1272-15_1272-14insCTGTCAGT)
c.1176-15_1176-14insCTGTCAGT (n.1176-15_1176-14insCTGTCAGT)
c.783-15_783-14insCTGTCAGT (n.783-15_783-14insCTGTCAGT)
c.1179-15_1179-14insCTGTCAGT (n.1179-15_1179-14insCTGTCAGT)
c.210-15_210-14insCTGTCAGT (n.210-15_210-14insCTGTCAGT)
 ClinVar dbSNP
20g.63415143_63415150dupCA2737061005KCNQ2c.1248-22_1248-15dup (n.1248-22_1248-15dup)
c.1302-22_1302-15dup (n.1302-22_1302-15dup)
c.699-22_699-15dup (n.699-22_699-15dup)
n.75-58_75-51dup
c.1248-58_1248-51dup (n.1248-58_1248-51dup)
c.906-58_906-51dup (n.906-58_906-51dup)
c.1218-22_1218-15dup (n.1218-22_1218-15dup)
c.1218-58_1218-51dup (n.1218-58_1218-51dup)
c.362-22_362-15dup
c.1272-22_1272-15dup (n.1272-22_1272-15dup)
c.1176-22_1176-15dup (n.1176-22_1176-15dup)
c.783-22_783-15dup (n.783-22_783-15dup)
c.1179-22_1179-15dup (n.1179-22_1179-15dup)
c.210-22_210-15dup (n.210-22_210-15dup)
 dbSNP
20g.63415142C=CA2374778879KCNQ2c.1248-16G= (n.1248-16G=)
c.1302-16G= (n.1302-16G=)
c.699-16G= (n.699-16G=)
n.75-52G=
c.1248-52G= (n.1248-52G=)
c.906-52G= (n.906-52G=)
c.1218-16G= (n.1218-16G=)
c.1218-52G= (n.1218-52G=)
c.362-16G=
c.1272-16G= (n.1272-16G=)
c.1176-16G= (n.1176-16G=)
c.783-16G= (n.783-16G=)
c.1179-16G= (n.1179-16G=)
c.210-16G= (n.210-16G=)
20g.63415142C>TCA2577453677KCNQ2c.1248-16G>A (n.1248-16G>A)
c.1302-16G>A (n.1302-16G>A)
c.699-16G>A (n.699-16G>A)
n.75-52G>A
c.1248-52G>A (n.1248-52G>A)
c.906-52G>A (n.906-52G>A)
c.1218-16G>A (n.1218-16G>A)
c.1218-52G>A (n.1218-52G>A)
c.362-16G>A
c.1272-16G>A (n.1272-16G>A)
c.1176-16G>A (n.1176-16G>A)
c.783-16G>A (n.783-16G>A)
c.1179-16G>A (n.1179-16G>A)
c.210-16G>A (n.210-16G>A)
20g.63415142_63415143insAGACA9958480KCNQ2c.1248-17_1248-16insTCT (n.1248-17_1248-16insTCT)
c.1302-17_1302-16insTCT (n.1302-17_1302-16insTCT)
c.699-17_699-16insTCT (n.699-17_699-16insTCT)
n.75-53_75-52insTCT
c.1248-53_1248-52insTCT (n.1248-53_1248-52insTCT)
c.906-53_906-52insTCT (n.906-53_906-52insTCT)
c.1218-17_1218-16insTCT (n.1218-17_1218-16insTCT)
c.1218-53_1218-52insTCT (n.1218-53_1218-52insTCT)
c.362-17_362-16insTCT
c.1272-17_1272-16insTCT (n.1272-17_1272-16insTCT)
c.1176-17_1176-16insTCT (n.1176-17_1176-16insTCT)
c.783-17_783-16insTCT (n.783-17_783-16insTCT)
c.1179-17_1179-16insTCT (n.1179-17_1179-16insTCT)
c.210-17_210-16insTCT (n.210-17_210-16insTCT)
 dbSNP ExAC gnomAD v4
20g.63415142_63415143insGGACA2653800817KCNQ2c.1248-17_1248-16insTCC (n.1248-17_1248-16insTCC)
c.1302-17_1302-16insTCC (n.1302-17_1302-16insTCC)
c.699-17_699-16insTCC (n.699-17_699-16insTCC)
n.75-53_75-52insTCC
c.1248-53_1248-52insTCC (n.1248-53_1248-52insTCC)
c.906-53_906-52insTCC (n.906-53_906-52insTCC)
c.1218-17_1218-16insTCC (n.1218-17_1218-16insTCC)
c.1218-53_1218-52insTCC (n.1218-53_1218-52insTCC)
c.362-17_362-16insTCC
c.1272-17_1272-16insTCC (n.1272-17_1272-16insTCC)
c.1176-17_1176-16insTCC (n.1176-17_1176-16insTCC)
c.783-17_783-16insTCC (n.783-17_783-16insTCC)
c.1179-17_1179-16insTCC (n.1179-17_1179-16insTCC)
c.210-17_210-16insTCC (n.210-17_210-16insTCC)
 gnomAD v4
20g.63415142_63415143insTGACA9958479KCNQ2c.1248-17_1248-16insTCA (n.1248-17_1248-16insTCA)
c.1302-17_1302-16insTCA (n.1302-17_1302-16insTCA)
c.699-17_699-16insTCA (n.699-17_699-16insTCA)
n.75-53_75-52insTCA
c.1248-53_1248-52insTCA (n.1248-53_1248-52insTCA)
c.906-53_906-52insTCA (n.906-53_906-52insTCA)
c.1218-17_1218-16insTCA (n.1218-17_1218-16insTCA)
c.1218-53_1218-52insTCA (n.1218-53_1218-52insTCA)
c.362-17_362-16insTCA
c.1272-17_1272-16insTCA (n.1272-17_1272-16insTCA)
c.1176-17_1176-16insTCA (n.1176-17_1176-16insTCA)
c.783-17_783-16insTCA (n.783-17_783-16insTCA)
c.1179-17_1179-16insTCA (n.1179-17_1179-16insTCA)
c.210-17_210-16insTCA (n.210-17_210-16insTCA)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415143C>ACA317431245KCNQ2c.1248-17G>T (n.1248-17G>T)
c.1302-17G>T (n.1302-17G>T)
c.699-17G>T (n.699-17G>T)
n.75-53G>T
c.1248-53G>T (n.1248-53G>T)
c.906-53G>T (n.906-53G>T)
c.1218-17G>T (n.1218-17G>T)
c.1218-53G>T (n.1218-53G>T)
c.362-17G>T
c.1272-17G>T (n.1272-17G>T)
c.1176-17G>T (n.1176-17G>T)
c.783-17G>T (n.783-17G>T)
c.1179-17G>T (n.1179-17G>T)
c.210-17G>T (n.210-17G>T)
 ClinVar dbSNP gnomAD v4
20g.63415143C=CA2374778880KCNQ2c.1248-17G= (n.1248-17G=)
c.1302-17G= (n.1302-17G=)
c.699-17G= (n.699-17G=)
n.75-53G=
c.1248-53G= (n.1248-53G=)
c.906-53G= (n.906-53G=)
c.1218-17G= (n.1218-17G=)
c.1218-53G= (n.1218-53G=)
c.362-17G=
c.1272-17G= (n.1272-17G=)
c.1176-17G= (n.1176-17G=)
c.783-17G= (n.783-17G=)
c.1179-17G= (n.1179-17G=)
c.210-17G= (n.210-17G=)
20g.63415143C>TCA2577453684KCNQ2c.1248-17G>A (n.1248-17G>A)
c.1302-17G>A (n.1302-17G>A)
c.699-17G>A (n.699-17G>A)
n.75-53G>A
c.1248-53G>A (n.1248-53G>A)
c.906-53G>A (n.906-53G>A)
c.1218-17G>A (n.1218-17G>A)
c.1218-53G>A (n.1218-53G>A)
c.362-17G>A
c.1272-17G>A (n.1272-17G>A)
c.1176-17G>A (n.1176-17G>A)
c.783-17G>A (n.783-17G>A)
c.1179-17G>A (n.1179-17G>A)
c.210-17G>A (n.210-17G>A)
20g.63415143_63415144insAACAGACAGACAGACAGACCA317431230KCNQ2c.1248-17_1248-16insTCTGTCTGTCTGTCTGTTG (n.1248-17_1248-16insTCTGTCTGTCTGTCTGTTG)
c.1302-17_1302-16insTCTGTCTGTCTGTCTGTTG (n.1302-17_1302-16insTCTGTCTGTCTGTCTGTTG)
c.699-17_699-16insTCTGTCTGTCTGTCTGTTG (n.699-17_699-16insTCTGTCTGTCTGTCTGTTG)
n.75-53_75-52insTCTGTCTGTCTGTCTGTTG
c.1248-53_1248-52insTCTGTCTGTCTGTCTGTTG (n.1248-53_1248-52insTCTGTCTGTCTGTCTGTTG)
c.906-53_906-52insTCTGTCTGTCTGTCTGTTG (n.906-53_906-52insTCTGTCTGTCTGTCTGTTG)
c.1218-17_1218-16insTCTGTCTGTCTGTCTGTTG (n.1218-17_1218-16insTCTGTCTGTCTGTCTGTTG)
c.1218-53_1218-52insTCTGTCTGTCTGTCTGTTG (n.1218-53_1218-52insTCTGTCTGTCTGTCTGTTG)
c.362-17_362-16insTCTGTCTGTCTGTCTGTTG
c.1272-17_1272-16insTCTGTCTGTCTGTCTGTTG (n.1272-17_1272-16insTCTGTCTGTCTGTCTGTTG)
c.1176-17_1176-16insTCTGTCTGTCTGTCTGTTG (n.1176-17_1176-16insTCTGTCTGTCTGTCTGTTG)
c.783-17_783-16insTCTGTCTGTCTGTCTGTTG (n.783-17_783-16insTCTGTCTGTCTGTCTGTTG)
c.1179-17_1179-16insTCTGTCTGTCTGTCTGTTG (n.1179-17_1179-16insTCTGTCTGTCTGTCTGTTG)
c.210-17_210-16insTCTGTCTGTCTGTCTGTTG (n.210-17_210-16insTCTGTCTGTCTGTCTGTTG)
 dbSNP
20g.63415144_63415145insGACAGACGCA916084256KCNQ2c.1248-17_1248-16insTCTGTCCG (n.1248-17_1248-16insTCTGTCCG)
c.1302-17_1302-16insTCTGTCCG (n.1302-17_1302-16insTCTGTCCG)
c.699-17_699-16insTCTGTCCG (n.699-17_699-16insTCTGTCCG)
n.75-53_75-52insTCTGTCCG
c.1248-53_1248-52insTCTGTCCG (n.1248-53_1248-52insTCTGTCCG)
c.906-53_906-52insTCTGTCCG (n.906-53_906-52insTCTGTCCG)
c.1218-17_1218-16insTCTGTCCG (n.1218-17_1218-16insTCTGTCCG)
c.1218-53_1218-52insTCTGTCCG (n.1218-53_1218-52insTCTGTCCG)
c.362-17_362-16insTCTGTCCG
c.1272-17_1272-16insTCTGTCCG (n.1272-17_1272-16insTCTGTCCG)
c.1176-17_1176-16insTCTGTCCG (n.1176-17_1176-16insTCTGTCCG)
c.783-17_783-16insTCTGTCCG (n.783-17_783-16insTCTGTCCG)
c.1179-17_1179-16insTCTGTCCG (n.1179-17_1179-16insTCTGTCCG)
c.210-17_210-16insTCTGTCCG (n.210-17_210-16insTCTGTCCG)
20g.63415143_63415147delinsCGACACA2374778881KCNQ2c.1248-21_1248-17delinsTGTCG (n.1248-21_1248-17delinsTGTCG)
c.1302-21_1302-17delinsTGTCG (n.1302-21_1302-17delinsTGTCG)
c.699-21_699-17delinsTGTCG (n.699-21_699-17delinsTGTCG)
n.75-57_75-53delinsTGTCG
c.1248-57_1248-53delinsTGTCG (n.1248-57_1248-53delinsTGTCG)
c.906-57_906-53delinsTGTCG (n.906-57_906-53delinsTGTCG)
c.1218-21_1218-17delinsTGTCG (n.1218-21_1218-17delinsTGTCG)
c.1218-57_1218-53delinsTGTCG (n.1218-57_1218-53delinsTGTCG)
c.362-21_362-17delinsTGTCG
c.1272-21_1272-17delinsTGTCG (n.1272-21_1272-17delinsTGTCG)
c.1176-21_1176-17delinsTGTCG (n.1176-21_1176-17delinsTGTCG)
c.783-21_783-17delinsTGTCG (n.783-21_783-17delinsTGTCG)
c.1179-21_1179-17delinsTGTCG (n.1179-21_1179-17delinsTGTCG)
c.210-21_210-17delinsTGTCG (n.210-21_210-17delinsTGTCG)
20g.63415143_63415151delinsCGACAGACACA2742038612KCNQ2c.1248-25_1248-17delinsTGTCTGTCG (n.1248-25_1248-17delinsTGTCTGTCG)
c.1302-25_1302-17delinsTGTCTGTCG (n.1302-25_1302-17delinsTGTCTGTCG)
c.699-25_699-17delinsTGTCTGTCG (n.699-25_699-17delinsTGTCTGTCG)
n.75-61_75-53delinsTGTCTGTCG
c.1248-61_1248-53delinsTGTCTGTCG (n.1248-61_1248-53delinsTGTCTGTCG)
c.906-61_906-53delinsTGTCTGTCG (n.906-61_906-53delinsTGTCTGTCG)
c.1218-25_1218-17delinsTGTCTGTCG (n.1218-25_1218-17delinsTGTCTGTCG)
c.1218-61_1218-53delinsTGTCTGTCG (n.1218-61_1218-53delinsTGTCTGTCG)
c.362-25_362-17delinsTGTCTGTCG
c.1272-25_1272-17delinsTGTCTGTCG (n.1272-25_1272-17delinsTGTCTGTCG)
c.1176-25_1176-17delinsTGTCTGTCG (n.1176-25_1176-17delinsTGTCTGTCG)
c.783-25_783-17delinsTGTCTGTCG (n.783-25_783-17delinsTGTCTGTCG)
c.1179-25_1179-17delinsTGTCTGTCG (n.1179-25_1179-17delinsTGTCTGTCG)
c.210-25_210-17delinsTGTCTGTCG (n.210-25_210-17delinsTGTCTGTCG)
20g.63415157_63415158insCAAACGACAGACAGACAGACA317431215KCNQ2c.1248-17_1248-16insTTTGTCTGTCTGTCTGTCG (n.1248-17_1248-16insTTTGTCTGTCTGTCTGTCG)
c.1302-17_1302-16insTTTGTCTGTCTGTCTGTCG (n.1302-17_1302-16insTTTGTCTGTCTGTCTGTCG)
c.699-17_699-16insTTTGTCTGTCTGTCTGTCG (n.699-17_699-16insTTTGTCTGTCTGTCTGTCG)
n.75-53_75-52insTTTGTCTGTCTGTCTGTCG
c.1248-53_1248-52insTTTGTCTGTCTGTCTGTCG (n.1248-53_1248-52insTTTGTCTGTCTGTCTGTCG)
c.906-53_906-52insTTTGTCTGTCTGTCTGTCG (n.906-53_906-52insTTTGTCTGTCTGTCTGTCG)
c.1218-17_1218-16insTTTGTCTGTCTGTCTGTCG (n.1218-17_1218-16insTTTGTCTGTCTGTCTGTCG)
c.1218-53_1218-52insTTTGTCTGTCTGTCTGTCG (n.1218-53_1218-52insTTTGTCTGTCTGTCTGTCG)
c.362-17_362-16insTTTGTCTGTCTGTCTGTCG
c.1272-17_1272-16insTTTGTCTGTCTGTCTGTCG (n.1272-17_1272-16insTTTGTCTGTCTGTCTGTCG)
c.1176-17_1176-16insTTTGTCTGTCTGTCTGTCG (n.1176-17_1176-16insTTTGTCTGTCTGTCTGTCG)
c.783-17_783-16insTTTGTCTGTCTGTCTGTCG (n.783-17_783-16insTTTGTCTGTCTGTCTGTCG)
c.1179-17_1179-16insTTTGTCTGTCTGTCTGTCG (n.1179-17_1179-16insTTTGTCTGTCTGTCTGTCG)
c.210-17_210-16insTTTGTCTGTCTGTCTGTCG (n.210-17_210-16insTTTGTCTGTCTGTCTGTCG)
 dbSNP
20g.63415157_63415158insCAGACGACAGACAGACAGACA317431207KCNQ2c.1248-17_1248-16insTCTGTCTGTCTGTCTGTCG (n.1248-17_1248-16insTCTGTCTGTCTGTCTGTCG)
c.1302-17_1302-16insTCTGTCTGTCTGTCTGTCG (n.1302-17_1302-16insTCTGTCTGTCTGTCTGTCG)
c.699-17_699-16insTCTGTCTGTCTGTCTGTCG (n.699-17_699-16insTCTGTCTGTCTGTCTGTCG)
n.75-53_75-52insTCTGTCTGTCTGTCTGTCG
c.1248-53_1248-52insTCTGTCTGTCTGTCTGTCG (n.1248-53_1248-52insTCTGTCTGTCTGTCTGTCG)
c.906-53_906-52insTCTGTCTGTCTGTCTGTCG (n.906-53_906-52insTCTGTCTGTCTGTCTGTCG)
c.1218-17_1218-16insTCTGTCTGTCTGTCTGTCG (n.1218-17_1218-16insTCTGTCTGTCTGTCTGTCG)
c.1218-53_1218-52insTCTGTCTGTCTGTCTGTCG (n.1218-53_1218-52insTCTGTCTGTCTGTCTGTCG)
c.362-17_362-16insTCTGTCTGTCTGTCTGTCG
c.1272-17_1272-16insTCTGTCTGTCTGTCTGTCG (n.1272-17_1272-16insTCTGTCTGTCTGTCTGTCG)
c.1176-17_1176-16insTCTGTCTGTCTGTCTGTCG (n.1176-17_1176-16insTCTGTCTGTCTGTCTGTCG)
c.783-17_783-16insTCTGTCTGTCTGTCTGTCG (n.783-17_783-16insTCTGTCTGTCTGTCTGTCG)
c.1179-17_1179-16insTCTGTCTGTCTGTCTGTCG (n.1179-17_1179-16insTCTGTCTGTCTGTCTGTCG)
c.210-17_210-16insTCTGTCTGTCTGTCTGTCG (n.210-17_210-16insTCTGTCTGTCTGTCTGTCG)
 dbSNP
20g.63415157_63415158insCAGACAGACGACAGACAGACAGACA317431204KCNQ2c.1248-17_1248-16insTCTGTCTGTCTGTCTGTCTGTCG (n.1248-17_1248-16insTCTGTCTGTCTGTCTGTCTGTCG)
c.1302-17_1302-16insTCTGTCTGTCTGTCTGTCTGTCG (n.1302-17_1302-16insTCTGTCTGTCTGTCTGTCTGTCG)
c.699-17_699-16insTCTGTCTGTCTGTCTGTCTGTCG (n.699-17_699-16insTCTGTCTGTCTGTCTGTCTGTCG)
n.75-53_75-52insTCTGTCTGTCTGTCTGTCTGTCG
c.1248-53_1248-52insTCTGTCTGTCTGTCTGTCTGTCG (n.1248-53_1248-52insTCTGTCTGTCTGTCTGTCTGTCG)
c.906-53_906-52insTCTGTCTGTCTGTCTGTCTGTCG (n.906-53_906-52insTCTGTCTGTCTGTCTGTCTGTCG)
c.1218-17_1218-16insTCTGTCTGTCTGTCTGTCTGTCG (n.1218-17_1218-16insTCTGTCTGTCTGTCTGTCTGTCG)
c.1218-53_1218-52insTCTGTCTGTCTGTCTGTCTGTCG (n.1218-53_1218-52insTCTGTCTGTCTGTCTGTCTGTCG)
c.362-17_362-16insTCTGTCTGTCTGTCTGTCTGTCG
c.1272-17_1272-16insTCTGTCTGTCTGTCTGTCTGTCG (n.1272-17_1272-16insTCTGTCTGTCTGTCTGTCTGTCG)
c.1176-17_1176-16insTCTGTCTGTCTGTCTGTCTGTCG (n.1176-17_1176-16insTCTGTCTGTCTGTCTGTCTGTCG)
c.783-17_783-16insTCTGTCTGTCTGTCTGTCTGTCG (n.783-17_783-16insTCTGTCTGTCTGTCTGTCTGTCG)
c.1179-17_1179-16insTCTGTCTGTCTGTCTGTCTGTCG (n.1179-17_1179-16insTCTGTCTGTCTGTCTGTCTGTCG)
c.210-17_210-16insTCTGTCTGTCTGTCTGTCTGTCG (n.210-17_210-16insTCTGTCTGTCTGTCTGTCTGTCG)
 dbSNP
20g.63415143_63415144insAACACA9958483KCNQ2c.1248-18_1248-17insTGTT (n.1248-18_1248-17insTGTT)
c.1302-18_1302-17insTGTT (n.1302-18_1302-17insTGTT)
c.699-18_699-17insTGTT (n.699-18_699-17insTGTT)
n.75-54_75-53insTGTT
c.1248-54_1248-53insTGTT (n.1248-54_1248-53insTGTT)
c.906-54_906-53insTGTT (n.906-54_906-53insTGTT)
c.1218-18_1218-17insTGTT (n.1218-18_1218-17insTGTT)
c.1218-54_1218-53insTGTT (n.1218-54_1218-53insTGTT)
c.362-18_362-17insTGTT
c.1272-18_1272-17insTGTT (n.1272-18_1272-17insTGTT)
c.1176-18_1176-17insTGTT (n.1176-18_1176-17insTGTT)
c.783-18_783-17insTGTT (n.783-18_783-17insTGTT)
c.1179-18_1179-17insTGTT (n.1179-18_1179-17insTGTT)
c.210-18_210-17insTGTT (n.210-18_210-17insTGTT)
 dbSNP ExAC gnomAD v4
20g.63415143_63415144insAGACACA9958484KCNQ2c.1248-18_1248-17insTGTCT (n.1248-18_1248-17insTGTCT)
c.1302-18_1302-17insTGTCT (n.1302-18_1302-17insTGTCT)
c.699-18_699-17insTGTCT (n.699-18_699-17insTGTCT)
n.75-54_75-53insTGTCT
c.1248-54_1248-53insTGTCT (n.1248-54_1248-53insTGTCT)
c.906-54_906-53insTGTCT (n.906-54_906-53insTGTCT)
c.1218-18_1218-17insTGTCT (n.1218-18_1218-17insTGTCT)
c.1218-54_1218-53insTGTCT (n.1218-54_1218-53insTGTCT)
c.362-18_362-17insTGTCT
c.1272-18_1272-17insTGTCT (n.1272-18_1272-17insTGTCT)
c.1176-18_1176-17insTGTCT (n.1176-18_1176-17insTGTCT)
c.783-18_783-17insTGTCT (n.783-18_783-17insTGTCT)
c.1179-18_1179-17insTGTCT (n.1179-18_1179-17insTGTCT)
c.210-18_210-17insTGTCT (n.210-18_210-17insTGTCT)
 dbSNP ExAC gnomAD v3 gnomAD v4
20g.63415143_63415144insACAGACACA2653800882KCNQ2c.1248-18_1248-17insTGTCTGT (n.1248-18_1248-17insTGTCTGT)
c.1302-18_1302-17insTGTCTGT (n.1302-18_1302-17insTGTCTGT)
c.699-18_699-17insTGTCTGT (n.699-18_699-17insTGTCTGT)
n.75-54_75-53insTGTCTGT
c.1248-54_1248-53insTGTCTGT (n.1248-54_1248-53insTGTCTGT)
c.906-54_906-53insTGTCTGT (n.906-54_906-53insTGTCTGT)
c.1218-18_1218-17insTGTCTGT (n.1218-18_1218-17insTGTCTGT)
c.1218-54_1218-53insTGTCTGT (n.1218-54_1218-53insTGTCTGT)
c.362-18_362-17insTGTCTGT
c.1272-18_1272-17insTGTCTGT (n.1272-18_1272-17insTGTCTGT)
c.1176-18_1176-17insTGTCTGT (n.1176-18_1176-17insTGTCTGT)
c.783-18_783-17insTGTCTGT (n.783-18_783-17insTGTCTGT)
c.1179-18_1179-17insTGTCTGT (n.1179-18_1179-17insTGTCTGT)
c.210-18_210-17insTGTCTGT (n.210-18_210-17insTGTCTGT)
 gnomAD v4
20g.63415143_63415144insAACAGACACA315307KCNQ2c.1248-18_1248-17insTGTCTGTT (n.1248-18_1248-17insTGTCTGTT)
c.1302-18_1302-17insTGTCTGTT (n.1302-18_1302-17insTGTCTGTT)
c.699-18_699-17insTGTCTGTT (n.699-18_699-17insTGTCTGTT)
n.75-54_75-53insTGTCTGTT
c.1248-54_1248-53insTGTCTGTT (n.1248-54_1248-53insTGTCTGTT)
c.906-54_906-53insTGTCTGTT (n.906-54_906-53insTGTCTGTT)
c.1218-18_1218-17insTGTCTGTT (n.1218-18_1218-17insTGTCTGTT)
c.1218-54_1218-53insTGTCTGTT (n.1218-54_1218-53insTGTCTGTT)
c.362-18_362-17insTGTCTGTT
c.1272-18_1272-17insTGTCTGTT (n.1272-18_1272-17insTGTCTGTT)
c.1176-18_1176-17insTGTCTGTT (n.1176-18_1176-17insTGTCTGTT)
c.783-18_783-17insTGTCTGTT (n.783-18_783-17insTGTCTGTT)
c.1179-18_1179-17insTGTCTGTT (n.1179-18_1179-17insTGTCTGTT)
c.210-18_210-17insTGTCTGTT (n.210-18_210-17insTGTCTGTT)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415143_63415144insAAGACAGACA916084257KCNQ2c.1248-18_1248-17insTCTGTCTT (n.1248-18_1248-17insTCTGTCTT)
c.1302-18_1302-17insTCTGTCTT (n.1302-18_1302-17insTCTGTCTT)
c.699-18_699-17insTCTGTCTT (n.699-18_699-17insTCTGTCTT)
n.75-54_75-53insTCTGTCTT
c.1248-54_1248-53insTCTGTCTT (n.1248-54_1248-53insTCTGTCTT)
c.906-54_906-53insTCTGTCTT (n.906-54_906-53insTCTGTCTT)
c.1218-18_1218-17insTCTGTCTT (n.1218-18_1218-17insTCTGTCTT)
c.1218-54_1218-53insTCTGTCTT (n.1218-54_1218-53insTCTGTCTT)
c.362-18_362-17insTCTGTCTT
c.1272-18_1272-17insTCTGTCTT (n.1272-18_1272-17insTCTGTCTT)
c.1176-18_1176-17insTCTGTCTT (n.1176-18_1176-17insTCTGTCTT)
c.783-18_783-17insTCTGTCTT (n.783-18_783-17insTCTGTCTT)
c.1179-18_1179-17insTCTGTCTT (n.1179-18_1179-17insTCTGTCTT)
c.210-18_210-17insTCTGTCTT (n.210-18_210-17insTCTGTCTT)
20g.63415143_63415144insACAGACAGCA746475629KCNQ2c.1248-18_1248-17insCTGTCTGT (n.1248-18_1248-17insCTGTCTGT)
c.1302-18_1302-17insCTGTCTGT (n.1302-18_1302-17insCTGTCTGT)
c.699-18_699-17insCTGTCTGT (n.699-18_699-17insCTGTCTGT)
n.75-54_75-53insCTGTCTGT
c.1248-54_1248-53insCTGTCTGT (n.1248-54_1248-53insCTGTCTGT)
c.906-54_906-53insCTGTCTGT (n.906-54_906-53insCTGTCTGT)
c.1218-18_1218-17insCTGTCTGT (n.1218-18_1218-17insCTGTCTGT)
c.1218-54_1218-53insCTGTCTGT (n.1218-54_1218-53insCTGTCTGT)
c.362-18_362-17insCTGTCTGT
c.1272-18_1272-17insCTGTCTGT (n.1272-18_1272-17insCTGTCTGT)
c.1176-18_1176-17insCTGTCTGT (n.1176-18_1176-17insCTGTCTGT)
c.783-18_783-17insCTGTCTGT (n.783-18_783-17insCTGTCTGT)
c.1179-18_1179-17insCTGTCTGT (n.1179-18_1179-17insCTGTCTGT)
c.210-18_210-17insCTGTCTGT (n.210-18_210-17insCTGTCTGT)
 dbSNP
20g.63415143_63415144insCACAGACACA2653800885KCNQ2c.1248-18_1248-17insTGTCTGTG (n.1248-18_1248-17insTGTCTGTG)
c.1302-18_1302-17insTGTCTGTG (n.1302-18_1302-17insTGTCTGTG)
c.699-18_699-17insTGTCTGTG (n.699-18_699-17insTGTCTGTG)
n.75-54_75-53insTGTCTGTG
c.1248-54_1248-53insTGTCTGTG (n.1248-54_1248-53insTGTCTGTG)
c.906-54_906-53insTGTCTGTG (n.906-54_906-53insTGTCTGTG)
c.1218-18_1218-17insTGTCTGTG (n.1218-18_1218-17insTGTCTGTG)
c.1218-54_1218-53insTGTCTGTG (n.1218-54_1218-53insTGTCTGTG)
c.362-18_362-17insTGTCTGTG
c.1272-18_1272-17insTGTCTGTG (n.1272-18_1272-17insTGTCTGTG)
c.1176-18_1176-17insTGTCTGTG (n.1176-18_1176-17insTGTCTGTG)
c.783-18_783-17insTGTCTGTG (n.783-18_783-17insTGTCTGTG)
c.1179-18_1179-17insTGTCTGTG (n.1179-18_1179-17insTGTCTGTG)
c.210-18_210-17insTGTCTGTG (n.210-18_210-17insTGTCTGTG)
 ClinVar gnomAD v4
20g.63415143_63415144insCAGACAGACA746475662KCNQ2c.1248-18_1248-17insTCTGTCTG (n.1248-18_1248-17insTCTGTCTG)
c.1302-18_1302-17insTCTGTCTG (n.1302-18_1302-17insTCTGTCTG)
c.699-18_699-17insTCTGTCTG (n.699-18_699-17insTCTGTCTG)
n.75-54_75-53insTCTGTCTG
c.1248-54_1248-53insTCTGTCTG (n.1248-54_1248-53insTCTGTCTG)
c.906-54_906-53insTCTGTCTG (n.906-54_906-53insTCTGTCTG)
c.1218-18_1218-17insTCTGTCTG (n.1218-18_1218-17insTCTGTCTG)
c.1218-54_1218-53insTCTGTCTG (n.1218-54_1218-53insTCTGTCTG)
c.362-18_362-17insTCTGTCTG
c.1272-18_1272-17insTCTGTCTG (n.1272-18_1272-17insTCTGTCTG)
c.1176-18_1176-17insTCTGTCTG (n.1176-18_1176-17insTCTGTCTG)
c.783-18_783-17insTCTGTCTG (n.783-18_783-17insTCTGTCTG)
c.1179-18_1179-17insTCTGTCTG (n.1179-18_1179-17insTCTGTCTG)
c.210-18_210-17insTCTGTCTG (n.210-18_210-17insTCTGTCTG)
 dbSNP
20g.63415143_63415144insTACAGACACA2653800863KCNQ2c.1248-18_1248-17insTGTCTGTA (n.1248-18_1248-17insTGTCTGTA)
c.1302-18_1302-17insTGTCTGTA (n.1302-18_1302-17insTGTCTGTA)
c.699-18_699-17insTGTCTGTA (n.699-18_699-17insTGTCTGTA)
n.75-54_75-53insTGTCTGTA
c.1248-54_1248-53insTGTCTGTA (n.1248-54_1248-53insTGTCTGTA)
c.906-54_906-53insTGTCTGTA (n.906-54_906-53insTGTCTGTA)
c.1218-18_1218-17insTGTCTGTA (n.1218-18_1218-17insTGTCTGTA)
c.1218-54_1218-53insTGTCTGTA (n.1218-54_1218-53insTGTCTGTA)
c.362-18_362-17insTGTCTGTA
c.1272-18_1272-17insTGTCTGTA (n.1272-18_1272-17insTGTCTGTA)
c.1176-18_1176-17insTGTCTGTA (n.1176-18_1176-17insTGTCTGTA)
c.783-18_783-17insTGTCTGTA (n.783-18_783-17insTGTCTGTA)
c.1179-18_1179-17insTGTCTGTA (n.1179-18_1179-17insTGTCTGTA)
c.210-18_210-17insTGTCTGTA (n.210-18_210-17insTGTCTGTA)
 gnomAD v4
20g.63415143_63415144insTCAGACAGCA916084260KCNQ2c.1248-18_1248-17insCTGTCTGA (n.1248-18_1248-17insCTGTCTGA)
c.1302-18_1302-17insCTGTCTGA (n.1302-18_1302-17insCTGTCTGA)
c.699-18_699-17insCTGTCTGA (n.699-18_699-17insCTGTCTGA)
n.75-54_75-53insCTGTCTGA
c.1248-54_1248-53insCTGTCTGA (n.1248-54_1248-53insCTGTCTGA)
c.906-54_906-53insCTGTCTGA (n.906-54_906-53insCTGTCTGA)
c.1218-18_1218-17insCTGTCTGA (n.1218-18_1218-17insCTGTCTGA)
c.1218-54_1218-53insCTGTCTGA (n.1218-54_1218-53insCTGTCTGA)
c.362-18_362-17insCTGTCTGA
c.1272-18_1272-17insCTGTCTGA (n.1272-18_1272-17insCTGTCTGA)
c.1176-18_1176-17insCTGTCTGA (n.1176-18_1176-17insCTGTCTGA)
c.783-18_783-17insCTGTCTGA (n.783-18_783-17insCTGTCTGA)
c.1179-18_1179-17insCTGTCTGA (n.1179-18_1179-17insCTGTCTGA)
c.210-18_210-17insCTGTCTGA (n.210-18_210-17insCTGTCTGA)
20g.63415144G>ACA9958485KCNQ2c.1248-18C>T (n.1248-18C>T)
c.1302-18C>T (n.1302-18C>T)
c.699-18C>T (n.699-18C>T)
n.75-54C>T
c.1248-54C>T (n.1248-54C>T)
c.906-54C>T (n.906-54C>T)
c.1218-18C>T (n.1218-18C>T)
c.1218-54C>T (n.1218-54C>T)
c.362-18C>T
c.1272-18C>T (n.1272-18C>T)
c.1176-18C>T (n.1176-18C>T)
c.783-18C>T (n.783-18C>T)
c.1179-18C>T (n.1179-18C>T)
c.210-18C>T (n.210-18C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415144G=CA2374778882KCNQ2c.1248-18C= (n.1248-18C=)
c.1302-18C= (n.1302-18C=)
c.699-18C= (n.699-18C=)
n.75-54C=
c.1248-54C= (n.1248-54C=)
c.906-54C= (n.906-54C=)
c.1218-18C= (n.1218-18C=)
c.1218-54C= (n.1218-54C=)
c.362-18C=
c.1272-18C= (n.1272-18C=)
c.1176-18C= (n.1176-18C=)
c.783-18C= (n.783-18C=)
c.1179-18C= (n.1179-18C=)
c.210-18C= (n.210-18C=)
20g.63415144_63415145insCAGACAGGCA916084259KCNQ2c.1248-18_1248-17insCTGTCTGC (n.1248-18_1248-17insCTGTCTGC)
c.1302-18_1302-17insCTGTCTGC (n.1302-18_1302-17insCTGTCTGC)
c.699-18_699-17insCTGTCTGC (n.699-18_699-17insCTGTCTGC)
n.75-54_75-53insCTGTCTGC
c.1248-54_1248-53insCTGTCTGC (n.1248-54_1248-53insCTGTCTGC)
c.906-54_906-53insCTGTCTGC (n.906-54_906-53insCTGTCTGC)
c.1218-18_1218-17insCTGTCTGC (n.1218-18_1218-17insCTGTCTGC)
c.1218-54_1218-53insCTGTCTGC (n.1218-54_1218-53insCTGTCTGC)
c.362-18_362-17insCTGTCTGC
c.1272-18_1272-17insCTGTCTGC (n.1272-18_1272-17insCTGTCTGC)
c.1176-18_1176-17insCTGTCTGC (n.1176-18_1176-17insCTGTCTGC)
c.783-18_783-17insCTGTCTGC (n.783-18_783-17insCTGTCTGC)
c.1179-18_1179-17insCTGTCTGC (n.1179-18_1179-17insCTGTCTGC)
c.210-18_210-17insCTGTCTGC (n.210-18_210-17insCTGTCTGC)
20g.63415144_63415145insGCAGACAGCA315306KCNQ2c.1248-18_1248-17insTGTCTGCC (n.1248-18_1248-17insTGTCTGCC)
c.1302-18_1302-17insTGTCTGCC (n.1302-18_1302-17insTGTCTGCC)
c.699-18_699-17insTGTCTGCC (n.699-18_699-17insTGTCTGCC)
n.75-54_75-53insTGTCTGCC
c.1248-54_1248-53insTGTCTGCC (n.1248-54_1248-53insTGTCTGCC)
c.906-54_906-53insTGTCTGCC (n.906-54_906-53insTGTCTGCC)
c.1218-18_1218-17insTGTCTGCC (n.1218-18_1218-17insTGTCTGCC)
c.1218-54_1218-53insTGTCTGCC (n.1218-54_1218-53insTGTCTGCC)
c.362-18_362-17insTGTCTGCC
c.1272-18_1272-17insTGTCTGCC (n.1272-18_1272-17insTGTCTGCC)
c.1176-18_1176-17insTGTCTGCC (n.1176-18_1176-17insTGTCTGCC)
c.783-18_783-17insTGTCTGCC (n.783-18_783-17insTGTCTGCC)
c.1179-18_1179-17insTGTCTGCC (n.1179-18_1179-17insTGTCTGCC)
c.210-18_210-17insTGTCTGCC (n.210-18_210-17insTGTCTGCC)
 ClinVar dbSNP
20g.63415144_63415145insTCAGACAGCA315305KCNQ2c.1248-18_1248-17insTGTCTGAC (n.1248-18_1248-17insTGTCTGAC)
c.1302-18_1302-17insTGTCTGAC (n.1302-18_1302-17insTGTCTGAC)
c.699-18_699-17insTGTCTGAC (n.699-18_699-17insTGTCTGAC)
n.75-54_75-53insTGTCTGAC
c.1248-54_1248-53insTGTCTGAC (n.1248-54_1248-53insTGTCTGAC)
c.906-54_906-53insTGTCTGAC (n.906-54_906-53insTGTCTGAC)
c.1218-18_1218-17insTGTCTGAC (n.1218-18_1218-17insTGTCTGAC)
c.1218-54_1218-53insTGTCTGAC (n.1218-54_1218-53insTGTCTGAC)
c.362-18_362-17insTGTCTGAC
c.1272-18_1272-17insTGTCTGAC (n.1272-18_1272-17insTGTCTGAC)
c.1176-18_1176-17insTGTCTGAC (n.1176-18_1176-17insTGTCTGAC)
c.783-18_783-17insTGTCTGAC (n.783-18_783-17insTGTCTGAC)
c.1179-18_1179-17insTGTCTGAC (n.1179-18_1179-17insTGTCTGAC)
c.210-18_210-17insTGTCTGAC (n.210-18_210-17insTGTCTGAC)
 ClinVar dbSNP
20g.63415145_63415146insAAGACAGACA315308KCNQ2c.1248-18_1248-17insTGTCTTTC (n.1248-18_1248-17insTGTCTTTC)
c.1302-18_1302-17insTGTCTTTC (n.1302-18_1302-17insTGTCTTTC)
c.699-18_699-17insTGTCTTTC (n.699-18_699-17insTGTCTTTC)
n.75-54_75-53insTGTCTTTC
c.1248-54_1248-53insTGTCTTTC (n.1248-54_1248-53insTGTCTTTC)
c.906-54_906-53insTGTCTTTC (n.906-54_906-53insTGTCTTTC)
c.1218-18_1218-17insTGTCTTTC (n.1218-18_1218-17insTGTCTTTC)
c.1218-54_1218-53insTGTCTTTC (n.1218-54_1218-53insTGTCTTTC)
c.362-18_362-17insTGTCTTTC
c.1272-18_1272-17insTGTCTTTC (n.1272-18_1272-17insTGTCTTTC)
c.1176-18_1176-17insTGTCTTTC (n.1176-18_1176-17insTGTCTTTC)
c.783-18_783-17insTGTCTTTC (n.783-18_783-17insTGTCTTTC)
c.1179-18_1179-17insTGTCTTTC (n.1179-18_1179-17insTGTCTTTC)
c.210-18_210-17insTGTCTTTC (n.210-18_210-17insTGTCTTTC)
 ClinVar dbSNP gnomAD v4
20g.63415145_63415146insGACAGAGACA916084258KCNQ2c.1248-18_1248-17insTCTGTCTC (n.1248-18_1248-17insTCTGTCTC)
c.1302-18_1302-17insTCTGTCTC (n.1302-18_1302-17insTCTGTCTC)
c.699-18_699-17insTCTGTCTC (n.699-18_699-17insTCTGTCTC)
n.75-54_75-53insTCTGTCTC
c.1248-54_1248-53insTCTGTCTC (n.1248-54_1248-53insTCTGTCTC)
c.906-54_906-53insTCTGTCTC (n.906-54_906-53insTCTGTCTC)
c.1218-18_1218-17insTCTGTCTC (n.1218-18_1218-17insTCTGTCTC)
c.1218-54_1218-53insTCTGTCTC (n.1218-54_1218-53insTCTGTCTC)
c.362-18_362-17insTCTGTCTC
c.1272-18_1272-17insTCTGTCTC (n.1272-18_1272-17insTCTGTCTC)
c.1176-18_1176-17insTCTGTCTC (n.1176-18_1176-17insTCTGTCTC)
c.783-18_783-17insTCTGTCTC (n.783-18_783-17insTCTGTCTC)
c.1179-18_1179-17insTCTGTCTC (n.1179-18_1179-17insTCTGTCTC)
c.210-18_210-17insTCTGTCTC (n.210-18_210-17insTCTGTCTC)
20g.63415145_63415146insGAGACAGACA315304KCNQ2c.1248-18_1248-17insTGTCTCTC (n.1248-18_1248-17insTGTCTCTC)
c.1302-18_1302-17insTGTCTCTC (n.1302-18_1302-17insTGTCTCTC)
c.699-18_699-17insTGTCTCTC (n.699-18_699-17insTGTCTCTC)
n.75-54_75-53insTGTCTCTC
c.1248-54_1248-53insTGTCTCTC (n.1248-54_1248-53insTGTCTCTC)
c.906-54_906-53insTGTCTCTC (n.906-54_906-53insTGTCTCTC)
c.1218-18_1218-17insTGTCTCTC (n.1218-18_1218-17insTGTCTCTC)
c.1218-54_1218-53insTGTCTCTC (n.1218-54_1218-53insTGTCTCTC)
c.362-18_362-17insTGTCTCTC
c.1272-18_1272-17insTGTCTCTC (n.1272-18_1272-17insTGTCTCTC)
c.1176-18_1176-17insTGTCTCTC (n.1176-18_1176-17insTGTCTCTC)
c.783-18_783-17insTGTCTCTC (n.783-18_783-17insTGTCTCTC)
c.1179-18_1179-17insTGTCTCTC (n.1179-18_1179-17insTGTCTCTC)
c.210-18_210-17insTGTCTCTC (n.210-18_210-17insTGTCTCTC)
 ClinVar dbSNP gnomAD v4
20g.63415145_63415146insTAGACAGACA2653800867KCNQ2c.1248-18_1248-17insTGTCTATC (n.1248-18_1248-17insTGTCTATC)
c.1302-18_1302-17insTGTCTATC (n.1302-18_1302-17insTGTCTATC)
c.699-18_699-17insTGTCTATC (n.699-18_699-17insTGTCTATC)
n.75-54_75-53insTGTCTATC
c.1248-54_1248-53insTGTCTATC (n.1248-54_1248-53insTGTCTATC)
c.906-54_906-53insTGTCTATC (n.906-54_906-53insTGTCTATC)
c.1218-18_1218-17insTGTCTATC (n.1218-18_1218-17insTGTCTATC)
c.1218-54_1218-53insTGTCTATC (n.1218-54_1218-53insTGTCTATC)
c.362-18_362-17insTGTCTATC
c.1272-18_1272-17insTGTCTATC (n.1272-18_1272-17insTGTCTATC)
c.1176-18_1176-17insTGTCTATC (n.1176-18_1176-17insTGTCTATC)
c.783-18_783-17insTGTCTATC (n.783-18_783-17insTGTCTATC)
c.1179-18_1179-17insTGTCTATC (n.1179-18_1179-17insTGTCTATC)
c.210-18_210-17insTGTCTATC (n.210-18_210-17insTGTCTATC)
 gnomAD v4
20g.63415146_63415147insCGACAGACCA2374778883KCNQ2c.1248-18_1248-17insTGTCGGTC (n.1248-18_1248-17insTGTCGGTC)
c.1302-18_1302-17insTGTCGGTC (n.1302-18_1302-17insTGTCGGTC)
c.699-18_699-17insTGTCGGTC (n.699-18_699-17insTGTCGGTC)
n.75-54_75-53insTGTCGGTC
c.1248-54_1248-53insTGTCGGTC (n.1248-54_1248-53insTGTCGGTC)
c.906-54_906-53insTGTCGGTC (n.906-54_906-53insTGTCGGTC)
c.1218-18_1218-17insTGTCGGTC (n.1218-18_1218-17insTGTCGGTC)
c.1218-54_1218-53insTGTCGGTC (n.1218-54_1218-53insTGTCGGTC)
c.362-18_362-17insTGTCGGTC
c.1272-18_1272-17insTGTCGGTC (n.1272-18_1272-17insTGTCGGTC)
c.1176-18_1176-17insTGTCGGTC (n.1176-18_1176-17insTGTCGGTC)
c.783-18_783-17insTGTCGGTC (n.783-18_783-17insTGTCGGTC)
c.1179-18_1179-17insTGTCGGTC (n.1179-18_1179-17insTGTCGGTC)
c.210-18_210-17insTGTCGGTC (n.210-18_210-17insTGTCGGTC)
 dbSNP gnomAD v4
20g.63415146_63415147insGGACAGACCA315303KCNQ2c.1248-18_1248-17insTGTCCGTC (n.1248-18_1248-17insTGTCCGTC)
c.1302-18_1302-17insTGTCCGTC (n.1302-18_1302-17insTGTCCGTC)
c.699-18_699-17insTGTCCGTC (n.699-18_699-17insTGTCCGTC)
n.75-54_75-53insTGTCCGTC
c.1248-54_1248-53insTGTCCGTC (n.1248-54_1248-53insTGTCCGTC)
c.906-54_906-53insTGTCCGTC (n.906-54_906-53insTGTCCGTC)
c.1218-18_1218-17insTGTCCGTC (n.1218-18_1218-17insTGTCCGTC)
c.1218-54_1218-53insTGTCCGTC (n.1218-54_1218-53insTGTCCGTC)
c.362-18_362-17insTGTCCGTC
c.1272-18_1272-17insTGTCCGTC (n.1272-18_1272-17insTGTCCGTC)
c.1176-18_1176-17insTGTCCGTC (n.1176-18_1176-17insTGTCCGTC)
c.783-18_783-17insTGTCCGTC (n.783-18_783-17insTGTCCGTC)
c.1179-18_1179-17insTGTCCGTC (n.1179-18_1179-17insTGTCCGTC)
c.210-18_210-17insTGTCCGTC (n.210-18_210-17insTGTCCGTC)
 ClinVar dbSNP gnomAD v4
20g.63415147_63415148insAACAGACACA746475674KCNQ2c.1248-18_1248-17insTGTTTGTC (n.1248-18_1248-17insTGTTTGTC)
c.1302-18_1302-17insTGTTTGTC (n.1302-18_1302-17insTGTTTGTC)
c.699-18_699-17insTGTTTGTC (n.699-18_699-17insTGTTTGTC)
n.75-54_75-53insTGTTTGTC
c.1248-54_1248-53insTGTTTGTC (n.1248-54_1248-53insTGTTTGTC)
c.906-54_906-53insTGTTTGTC (n.906-54_906-53insTGTTTGTC)
c.1218-18_1218-17insTGTTTGTC (n.1218-18_1218-17insTGTTTGTC)
c.1218-54_1218-53insTGTTTGTC (n.1218-54_1218-53insTGTTTGTC)
c.362-18_362-17insTGTTTGTC
c.1272-18_1272-17insTGTTTGTC (n.1272-18_1272-17insTGTTTGTC)
c.1176-18_1176-17insTGTTTGTC (n.1176-18_1176-17insTGTTTGTC)
c.783-18_783-17insTGTTTGTC (n.783-18_783-17insTGTTTGTC)
c.1179-18_1179-17insTGTTTGTC (n.1179-18_1179-17insTGTTTGTC)
c.210-18_210-17insTGTTTGTC (n.210-18_210-17insTGTTTGTC)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63415147_63415148insCACAGACACA2653800888KCNQ2c.1248-18_1248-17insTGTGTGTC (n.1248-18_1248-17insTGTGTGTC)
c.1302-18_1302-17insTGTGTGTC (n.1302-18_1302-17insTGTGTGTC)
c.699-18_699-17insTGTGTGTC (n.699-18_699-17insTGTGTGTC)
n.75-54_75-53insTGTGTGTC
c.1248-54_1248-53insTGTGTGTC (n.1248-54_1248-53insTGTGTGTC)
c.906-54_906-53insTGTGTGTC (n.906-54_906-53insTGTGTGTC)
c.1218-18_1218-17insTGTGTGTC (n.1218-18_1218-17insTGTGTGTC)
c.1218-54_1218-53insTGTGTGTC (n.1218-54_1218-53insTGTGTGTC)
c.362-18_362-17insTGTGTGTC
c.1272-18_1272-17insTGTGTGTC (n.1272-18_1272-17insTGTGTGTC)
c.1176-18_1176-17insTGTGTGTC (n.1176-18_1176-17insTGTGTGTC)
c.783-18_783-17insTGTGTGTC (n.783-18_783-17insTGTGTGTC)
c.1179-18_1179-17insTGTGTGTC (n.1179-18_1179-17insTGTGTGTC)
c.210-18_210-17insTGTGTGTC (n.210-18_210-17insTGTGTGTC)
 gnomAD v4
20g.63415147_63415148insTACAGACACA2653800871KCNQ2c.1248-18_1248-17insTGTATGTC (n.1248-18_1248-17insTGTATGTC)
c.1302-18_1302-17insTGTATGTC (n.1302-18_1302-17insTGTATGTC)
c.699-18_699-17insTGTATGTC (n.699-18_699-17insTGTATGTC)
n.75-54_75-53insTGTATGTC
c.1248-54_1248-53insTGTATGTC (n.1248-54_1248-53insTGTATGTC)
c.906-54_906-53insTGTATGTC (n.906-54_906-53insTGTATGTC)
c.1218-18_1218-17insTGTATGTC (n.1218-18_1218-17insTGTATGTC)
c.1218-54_1218-53insTGTATGTC (n.1218-54_1218-53insTGTATGTC)
c.362-18_362-17insTGTATGTC
c.1272-18_1272-17insTGTATGTC (n.1272-18_1272-17insTGTATGTC)
c.1176-18_1176-17insTGTATGTC (n.1176-18_1176-17insTGTATGTC)
c.783-18_783-17insTGTATGTC (n.783-18_783-17insTGTATGTC)
c.1179-18_1179-17insTGTATGTC (n.1179-18_1179-17insTGTATGTC)
c.210-18_210-17insTGTATGTC (n.210-18_210-17insTGTATGTC)
 gnomAD v4
20g.63415148_63415149insGCAGACAGCA315302KCNQ2c.1248-18_1248-17insTGCCTGTC (n.1248-18_1248-17insTGCCTGTC)
c.1302-18_1302-17insTGCCTGTC (n.1302-18_1302-17insTGCCTGTC)
c.699-18_699-17insTGCCTGTC (n.699-18_699-17insTGCCTGTC)
n.75-54_75-53insTGCCTGTC
c.1248-54_1248-53insTGCCTGTC (n.1248-54_1248-53insTGCCTGTC)
c.906-54_906-53insTGCCTGTC (n.906-54_906-53insTGCCTGTC)
c.1218-18_1218-17insTGCCTGTC (n.1218-18_1218-17insTGCCTGTC)
c.1218-54_1218-53insTGCCTGTC (n.1218-54_1218-53insTGCCTGTC)
c.362-18_362-17insTGCCTGTC
c.1272-18_1272-17insTGCCTGTC (n.1272-18_1272-17insTGCCTGTC)
c.1176-18_1176-17insTGCCTGTC (n.1176-18_1176-17insTGCCTGTC)
c.783-18_783-17insTGCCTGTC (n.783-18_783-17insTGCCTGTC)
c.1179-18_1179-17insTGCCTGTC (n.1179-18_1179-17insTGCCTGTC)
c.210-18_210-17insTGCCTGTC (n.210-18_210-17insTGCCTGTC)
 ClinVar dbSNP gnomAD v4
20g.63415148_63415149insTCAGACAGCA2653800872KCNQ2c.1248-18_1248-17insTGACTGTC (n.1248-18_1248-17insTGACTGTC)
c.1302-18_1302-17insTGACTGTC (n.1302-18_1302-17insTGACTGTC)
c.699-18_699-17insTGACTGTC (n.699-18_699-17insTGACTGTC)
n.75-54_75-53insTGACTGTC
c.1248-54_1248-53insTGACTGTC (n.1248-54_1248-53insTGACTGTC)
c.906-54_906-53insTGACTGTC (n.906-54_906-53insTGACTGTC)
c.1218-18_1218-17insTGACTGTC (n.1218-18_1218-17insTGACTGTC)
c.1218-54_1218-53insTGACTGTC (n.1218-54_1218-53insTGACTGTC)
c.362-18_362-17insTGACTGTC
c.1272-18_1272-17insTGACTGTC (n.1272-18_1272-17insTGACTGTC)
c.1176-18_1176-17insTGACTGTC (n.1176-18_1176-17insTGACTGTC)
c.783-18_783-17insTGACTGTC (n.783-18_783-17insTGACTGTC)
c.1179-18_1179-17insTGACTGTC (n.1179-18_1179-17insTGACTGTC)
c.210-18_210-17insTGACTGTC (n.210-18_210-17insTGACTGTC)
 gnomAD v4
20g.63415149_63415150insAAGACAGACA2653800889KCNQ2c.1248-18_1248-17insTTTCTGTC (n.1248-18_1248-17insTTTCTGTC)
c.1302-18_1302-17insTTTCTGTC (n.1302-18_1302-17insTTTCTGTC)
c.699-18_699-17insTTTCTGTC (n.699-18_699-17insTTTCTGTC)
n.75-54_75-53insTTTCTGTC
c.1248-54_1248-53insTTTCTGTC (n.1248-54_1248-53insTTTCTGTC)
c.906-54_906-53insTTTCTGTC (n.906-54_906-53insTTTCTGTC)
c.1218-18_1218-17insTTTCTGTC (n.1218-18_1218-17insTTTCTGTC)
c.1218-54_1218-53insTTTCTGTC (n.1218-54_1218-53insTTTCTGTC)
c.362-18_362-17insTTTCTGTC
c.1272-18_1272-17insTTTCTGTC (n.1272-18_1272-17insTTTCTGTC)
c.1176-18_1176-17insTTTCTGTC (n.1176-18_1176-17insTTTCTGTC)
c.783-18_783-17insTTTCTGTC (n.783-18_783-17insTTTCTGTC)
c.1179-18_1179-17insTTTCTGTC (n.1179-18_1179-17insTTTCTGTC)
c.210-18_210-17insTTTCTGTC (n.210-18_210-17insTTTCTGTC)
 gnomAD v4
20g.63415149_63415150insGAGACAGACA2653800876KCNQ2c.1248-18_1248-17insTCTCTGTC (n.1248-18_1248-17insTCTCTGTC)
c.1302-18_1302-17insTCTCTGTC (n.1302-18_1302-17insTCTCTGTC)
c.699-18_699-17insTCTCTGTC (n.699-18_699-17insTCTCTGTC)
n.75-54_75-53insTCTCTGTC
c.1248-54_1248-53insTCTCTGTC (n.1248-54_1248-53insTCTCTGTC)
c.906-54_906-53insTCTCTGTC (n.906-54_906-53insTCTCTGTC)
c.1218-18_1218-17insTCTCTGTC (n.1218-18_1218-17insTCTCTGTC)
c.1218-54_1218-53insTCTCTGTC (n.1218-54_1218-53insTCTCTGTC)
c.362-18_362-17insTCTCTGTC
c.1272-18_1272-17insTCTCTGTC (n.1272-18_1272-17insTCTCTGTC)
c.1176-18_1176-17insTCTCTGTC (n.1176-18_1176-17insTCTCTGTC)
c.783-18_783-17insTCTCTGTC (n.783-18_783-17insTCTCTGTC)
c.1179-18_1179-17insTCTCTGTC (n.1179-18_1179-17insTCTCTGTC)
c.210-18_210-17insTCTCTGTC (n.210-18_210-17insTCTCTGTC)
 gnomAD v4
20g.63415149_63415150insTAGACAGACA2653800875KCNQ2c.1248-18_1248-17insTATCTGTC (n.1248-18_1248-17insTATCTGTC)
c.1302-18_1302-17insTATCTGTC (n.1302-18_1302-17insTATCTGTC)
c.699-18_699-17insTATCTGTC (n.699-18_699-17insTATCTGTC)
n.75-54_75-53insTATCTGTC
c.1248-54_1248-53insTATCTGTC (n.1248-54_1248-53insTATCTGTC)
c.906-54_906-53insTATCTGTC (n.906-54_906-53insTATCTGTC)
c.1218-18_1218-17insTATCTGTC (n.1218-18_1218-17insTATCTGTC)
c.1218-54_1218-53insTATCTGTC (n.1218-54_1218-53insTATCTGTC)
c.362-18_362-17insTATCTGTC
c.1272-18_1272-17insTATCTGTC (n.1272-18_1272-17insTATCTGTC)
c.1176-18_1176-17insTATCTGTC (n.1176-18_1176-17insTATCTGTC)
c.783-18_783-17insTATCTGTC (n.783-18_783-17insTATCTGTC)
c.1179-18_1179-17insTATCTGTC (n.1179-18_1179-17insTATCTGTC)
c.210-18_210-17insTATCTGTC (n.210-18_210-17insTATCTGTC)
 gnomAD v4
20g.63415150_63415151insGGACAGACCA315301KCNQ2c.1248-18_1248-17insCGTCTGTC (n.1248-18_1248-17insCGTCTGTC)
c.1302-18_1302-17insCGTCTGTC (n.1302-18_1302-17insCGTCTGTC)
c.699-18_699-17insCGTCTGTC (n.699-18_699-17insCGTCTGTC)
n.75-54_75-53insCGTCTGTC
c.1248-54_1248-53insCGTCTGTC (n.1248-54_1248-53insCGTCTGTC)
c.906-54_906-53insCGTCTGTC (n.906-54_906-53insCGTCTGTC)
c.1218-18_1218-17insCGTCTGTC (n.1218-18_1218-17insCGTCTGTC)
c.1218-54_1218-53insCGTCTGTC (n.1218-54_1218-53insCGTCTGTC)
c.362-18_362-17insCGTCTGTC
c.1272-18_1272-17insCGTCTGTC (n.1272-18_1272-17insCGTCTGTC)
c.1176-18_1176-17insCGTCTGTC (n.1176-18_1176-17insCGTCTGTC)
c.783-18_783-17insCGTCTGTC (n.783-18_783-17insCGTCTGTC)
c.1179-18_1179-17insCGTCTGTC (n.1179-18_1179-17insCGTCTGTC)
c.210-18_210-17insCGTCTGTC (n.210-18_210-17insCGTCTGTC)
 ClinVar dbSNP gnomAD v4
20g.63415157_63415158insCAGACAGACAGACAGACA2653800878KCNQ2c.1248-18_1248-17insTGTCTGTCTGTCTGTC (n.1248-18_1248-17insTGTCTGTCTGTCTGTC)
c.1302-18_1302-17insTGTCTGTCTGTCTGTC (n.1302-18_1302-17insTGTCTGTCTGTCTGTC)
c.699-18_699-17insTGTCTGTCTGTCTGTC (n.699-18_699-17insTGTCTGTCTGTCTGTC)
n.75-54_75-53insTGTCTGTCTGTCTGTC
c.1248-54_1248-53insTGTCTGTCTGTCTGTC (n.1248-54_1248-53insTGTCTGTCTGTCTGTC)
c.906-54_906-53insTGTCTGTCTGTCTGTC (n.906-54_906-53insTGTCTGTCTGTCTGTC)
c.1218-18_1218-17insTGTCTGTCTGTCTGTC (n.1218-18_1218-17insTGTCTGTCTGTCTGTC)
c.1218-54_1218-53insTGTCTGTCTGTCTGTC (n.1218-54_1218-53insTGTCTGTCTGTCTGTC)
c.362-18_362-17insTGTCTGTCTGTCTGTC
c.1272-18_1272-17insTGTCTGTCTGTCTGTC (n.1272-18_1272-17insTGTCTGTCTGTCTGTC)
c.1176-18_1176-17insTGTCTGTCTGTCTGTC (n.1176-18_1176-17insTGTCTGTCTGTCTGTC)
c.783-18_783-17insTGTCTGTCTGTCTGTC (n.783-18_783-17insTGTCTGTCTGTCTGTC)
c.1179-18_1179-17insTGTCTGTCTGTCTGTC (n.1179-18_1179-17insTGTCTGTCTGTCTGTC)
c.210-18_210-17insTGTCTGTCTGTCTGTC (n.210-18_210-17insTGTCTGTCTGTCTGTC)
 gnomAD v4
20g.63415157_63415158insCAGGACAGACAGACAGACA317431316KCNQ2c.1248-18_1248-17insCTGTCTGTCTGTCTGTC (n.1248-18_1248-17insCTGTCTGTCTGTCTGTC)
c.1302-18_1302-17insCTGTCTGTCTGTCTGTC (n.1302-18_1302-17insCTGTCTGTCTGTCTGTC)
c.699-18_699-17insCTGTCTGTCTGTCTGTC (n.699-18_699-17insCTGTCTGTCTGTCTGTC)
n.75-54_75-53insCTGTCTGTCTGTCTGTC
c.1248-54_1248-53insCTGTCTGTCTGTCTGTC (n.1248-54_1248-53insCTGTCTGTCTGTCTGTC)
c.906-54_906-53insCTGTCTGTCTGTCTGTC (n.906-54_906-53insCTGTCTGTCTGTCTGTC)
c.1218-18_1218-17insCTGTCTGTCTGTCTGTC (n.1218-18_1218-17insCTGTCTGTCTGTCTGTC)
c.1218-54_1218-53insCTGTCTGTCTGTCTGTC (n.1218-54_1218-53insCTGTCTGTCTGTCTGTC)
c.362-18_362-17insCTGTCTGTCTGTCTGTC
c.1272-18_1272-17insCTGTCTGTCTGTCTGTC (n.1272-18_1272-17insCTGTCTGTCTGTCTGTC)
c.1176-18_1176-17insCTGTCTGTCTGTCTGTC (n.1176-18_1176-17insCTGTCTGTCTGTCTGTC)
c.783-18_783-17insCTGTCTGTCTGTCTGTC (n.783-18_783-17insCTGTCTGTCTGTCTGTC)
c.1179-18_1179-17insCTGTCTGTCTGTCTGTC (n.1179-18_1179-17insCTGTCTGTCTGTCTGTC)
c.210-18_210-17insCTGTCTGTCTGTCTGTC (n.210-18_210-17insCTGTCTGTCTGTCTGTC)
 dbSNP
20g.63415154_63415157dupCA9958481KCNQ2c.1248-21_1248-18dup (n.1248-21_1248-18dup)
c.1302-21_1302-18dup (n.1302-21_1302-18dup)
c.699-21_699-18dup (n.699-21_699-18dup)
n.75-57_75-54dup
c.1248-57_1248-54dup (n.1248-57_1248-54dup)
c.906-57_906-54dup (n.906-57_906-54dup)
c.1218-21_1218-18dup (n.1218-21_1218-18dup)
c.1218-57_1218-54dup (n.1218-57_1218-54dup)
c.362-21_362-18dup
c.1272-21_1272-18dup (n.1272-21_1272-18dup)
c.1176-21_1176-18dup (n.1176-21_1176-18dup)
c.783-21_783-18dup (n.783-21_783-18dup)
c.1179-21_1179-18dup (n.1179-21_1179-18dup)
c.210-21_210-18dup (n.210-21_210-18dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415150_63415157dupCA315300KCNQ2c.1248-25_1248-18dup (n.1248-25_1248-18dup)
c.1302-25_1302-18dup (n.1302-25_1302-18dup)
c.699-25_699-18dup (n.699-25_699-18dup)
n.75-61_75-54dup
c.1248-61_1248-54dup (n.1248-61_1248-54dup)
c.906-61_906-54dup (n.906-61_906-54dup)
c.1218-25_1218-18dup (n.1218-25_1218-18dup)
c.1218-61_1218-54dup (n.1218-61_1218-54dup)
c.362-25_362-18dup
c.1272-25_1272-18dup (n.1272-25_1272-18dup)
c.1176-25_1176-18dup (n.1176-25_1176-18dup)
c.783-25_783-18dup (n.783-25_783-18dup)
c.1179-25_1179-18dup (n.1179-25_1179-18dup)
c.210-25_210-18dup (n.210-25_210-18dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415146_63415157dupCA9958482KCNQ2c.1248-29_1248-18dup (n.1248-29_1248-18dup)
c.1302-29_1302-18dup (n.1302-29_1302-18dup)
c.699-29_699-18dup (n.699-29_699-18dup)
n.75-65_75-54dup
c.1248-65_1248-54dup (n.1248-65_1248-54dup)
c.906-65_906-54dup (n.906-65_906-54dup)
c.1218-29_1218-18dup (n.1218-29_1218-18dup)
c.1218-65_1218-54dup (n.1218-65_1218-54dup)
c.362-29_362-18dup
c.1272-29_1272-18dup (n.1272-29_1272-18dup)
c.1176-29_1176-18dup (n.1176-29_1176-18dup)
c.783-29_783-18dup (n.783-29_783-18dup)
c.1179-29_1179-18dup (n.1179-29_1179-18dup)
c.210-29_210-18dup (n.210-29_210-18dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415154_63415157delCA636614202KCNQ2c.1248-21_1248-18del (n.1248-21_1248-18del)
c.1302-21_1302-18del (n.1302-21_1302-18del)
c.699-21_699-18del (n.699-21_699-18del)
n.75-57_75-54del
c.1248-57_1248-54del (n.1248-57_1248-54del)
c.906-57_906-54del (n.906-57_906-54del)
c.1218-21_1218-18del (n.1218-21_1218-18del)
c.1218-57_1218-54del (n.1218-57_1218-54del)
c.362-21_362-18del
c.1272-21_1272-18del (n.1272-21_1272-18del)
c.1176-21_1176-18del (n.1176-21_1176-18del)
c.783-21_783-18del (n.783-21_783-18del)
c.1179-21_1179-18del (n.1179-21_1179-18del)
c.210-21_210-18del (n.210-21_210-18del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415145A=CA2374778884KCNQ2c.1248-19T= (n.1248-19T=)
c.1302-19T= (n.1302-19T=)
c.699-19T= (n.699-19T=)
n.75-55T=
c.1248-55T= (n.1248-55T=)
c.906-55T= (n.906-55T=)
c.1218-19T= (n.1218-19T=)
c.1218-55T= (n.1218-55T=)
c.362-19T=
c.1272-19T= (n.1272-19T=)
c.1176-19T= (n.1176-19T=)
c.783-19T= (n.783-19T=)
c.1179-19T= (n.1179-19T=)
c.210-19T= (n.210-19T=)
20g.63415145_63415146insTAGACATACA2737061026KCNQ2c.1248-19_1248-18insATGTCTAT (n.1248-19_1248-18insATGTCTAT)
c.1302-19_1302-18insATGTCTAT (n.1302-19_1302-18insATGTCTAT)
c.699-19_699-18insATGTCTAT (n.699-19_699-18insATGTCTAT)
n.75-55_75-54insATGTCTAT
c.1248-55_1248-54insATGTCTAT (n.1248-55_1248-54insATGTCTAT)
c.906-55_906-54insATGTCTAT (n.906-55_906-54insATGTCTAT)
c.1218-19_1218-18insATGTCTAT (n.1218-19_1218-18insATGTCTAT)
c.1218-55_1218-54insATGTCTAT (n.1218-55_1218-54insATGTCTAT)
c.362-19_362-18insATGTCTAT
c.1272-19_1272-18insATGTCTAT (n.1272-19_1272-18insATGTCTAT)
c.1176-19_1176-18insATGTCTAT (n.1176-19_1176-18insATGTCTAT)
c.783-19_783-18insATGTCTAT (n.783-19_783-18insATGTCTAT)
c.1179-19_1179-18insATGTCTAT (n.1179-19_1179-18insATGTCTAT)
c.210-19_210-18insATGTCTAT (n.210-19_210-18insATGTCTAT)
 dbSNP
20g.63415147_63415148insAACACA2816991531KCNQ2c.1248-19_1248-18insTTGT (n.1248-19_1248-18insTTGT)
c.1302-19_1302-18insTTGT (n.1302-19_1302-18insTTGT)
c.699-19_699-18insTTGT (n.699-19_699-18insTTGT)
n.75-55_75-54insTTGT
c.1248-55_1248-54insTTGT (n.1248-55_1248-54insTTGT)
c.906-55_906-54insTTGT (n.906-55_906-54insTTGT)
c.1218-19_1218-18insTTGT (n.1218-19_1218-18insTTGT)
c.1218-55_1218-54insTTGT (n.1218-55_1218-54insTTGT)
c.362-19_362-18insTTGT
c.1272-19_1272-18insTTGT (n.1272-19_1272-18insTTGT)
c.1176-19_1176-18insTTGT (n.1176-19_1176-18insTTGT)
c.783-19_783-18insTTGT (n.783-19_783-18insTTGT)
c.1179-19_1179-18insTTGT (n.1179-19_1179-18insTTGT)
c.210-19_210-18insTTGT (n.210-19_210-18insTTGT)
20g.63415147_63415148insTACACA2653800900KCNQ2c.1248-19_1248-18insATGT (n.1248-19_1248-18insATGT)
c.1302-19_1302-18insATGT (n.1302-19_1302-18insATGT)
c.699-19_699-18insATGT (n.699-19_699-18insATGT)
n.75-55_75-54insATGT
c.1248-55_1248-54insATGT (n.1248-55_1248-54insATGT)
c.906-55_906-54insATGT (n.906-55_906-54insATGT)
c.1218-19_1218-18insATGT (n.1218-19_1218-18insATGT)
c.1218-55_1218-54insATGT (n.1218-55_1218-54insATGT)
c.362-19_362-18insATGT
c.1272-19_1272-18insATGT (n.1272-19_1272-18insATGT)
c.1176-19_1176-18insATGT (n.1176-19_1176-18insATGT)
c.783-19_783-18insATGT (n.783-19_783-18insATGT)
c.1179-19_1179-18insATGT (n.1179-19_1179-18insATGT)
c.210-19_210-18insATGT (n.210-19_210-18insATGT)
 gnomAD v4
20g.63415147_63415148insTACATACACA2737061044KCNQ2c.1248-19_1248-18insATGTATGT (n.1248-19_1248-18insATGTATGT)
c.1302-19_1302-18insATGTATGT (n.1302-19_1302-18insATGTATGT)
c.699-19_699-18insATGTATGT (n.699-19_699-18insATGTATGT)
n.75-55_75-54insATGTATGT
c.1248-55_1248-54insATGTATGT (n.1248-55_1248-54insATGTATGT)
c.906-55_906-54insATGTATGT (n.906-55_906-54insATGTATGT)
c.1218-19_1218-18insATGTATGT (n.1218-19_1218-18insATGTATGT)
c.1218-55_1218-54insATGTATGT (n.1218-55_1218-54insATGTATGT)
c.362-19_362-18insATGTATGT
c.1272-19_1272-18insATGTATGT (n.1272-19_1272-18insATGTATGT)
c.1176-19_1176-18insATGTATGT (n.1176-19_1176-18insATGTATGT)
c.783-19_783-18insATGTATGT (n.783-19_783-18insATGTATGT)
c.1179-19_1179-18insATGTATGT (n.1179-19_1179-18insATGTATGT)
c.210-19_210-18insATGTATGT (n.210-19_210-18insATGTATGT)
 dbSNP
20g.63415148_63415149insCCATACAGCA2737061023KCNQ2c.1248-19_1248-18insATGGCTGT (n.1248-19_1248-18insATGGCTGT)
c.1302-19_1302-18insATGGCTGT (n.1302-19_1302-18insATGGCTGT)
c.699-19_699-18insATGGCTGT (n.699-19_699-18insATGGCTGT)
n.75-55_75-54insATGGCTGT
c.1248-55_1248-54insATGGCTGT (n.1248-55_1248-54insATGGCTGT)
c.906-55_906-54insATGGCTGT (n.906-55_906-54insATGGCTGT)
c.1218-19_1218-18insATGGCTGT (n.1218-19_1218-18insATGGCTGT)
c.1218-55_1218-54insATGGCTGT (n.1218-55_1218-54insATGGCTGT)
c.362-19_362-18insATGGCTGT
c.1272-19_1272-18insATGGCTGT (n.1272-19_1272-18insATGGCTGT)
c.1176-19_1176-18insATGGCTGT (n.1176-19_1176-18insATGGCTGT)
c.783-19_783-18insATGGCTGT (n.783-19_783-18insATGGCTGT)
c.1179-19_1179-18insATGGCTGT (n.1179-19_1179-18insATGGCTGT)
c.210-19_210-18insATGGCTGT (n.210-19_210-18insATGGCTGT)
 dbSNP
20g.63415151_63415152insAACAGACACA9958486KCNQ2c.1248-19_1248-18insTTGTCTGT (n.1248-19_1248-18insTTGTCTGT)
c.1302-19_1302-18insTTGTCTGT (n.1302-19_1302-18insTTGTCTGT)
c.699-19_699-18insTTGTCTGT (n.699-19_699-18insTTGTCTGT)
n.75-55_75-54insTTGTCTGT
c.1248-55_1248-54insTTGTCTGT (n.1248-55_1248-54insTTGTCTGT)
c.906-55_906-54insTTGTCTGT (n.906-55_906-54insTTGTCTGT)
c.1218-19_1218-18insTTGTCTGT (n.1218-19_1218-18insTTGTCTGT)
c.1218-55_1218-54insTTGTCTGT (n.1218-55_1218-54insTTGTCTGT)
c.362-19_362-18insTTGTCTGT
c.1272-19_1272-18insTTGTCTGT (n.1272-19_1272-18insTTGTCTGT)
c.1176-19_1176-18insTTGTCTGT (n.1176-19_1176-18insTTGTCTGT)
c.783-19_783-18insTTGTCTGT (n.783-19_783-18insTTGTCTGT)
c.1179-19_1179-18insTTGTCTGT (n.1179-19_1179-18insTTGTCTGT)
c.210-19_210-18insTTGTCTGT (n.210-19_210-18insTTGTCTGT)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415151_63415152insCACAGACACA2736828548KCNQ2c.1248-19_1248-18insGTGTCTGT (n.1248-19_1248-18insGTGTCTGT)
c.1302-19_1302-18insGTGTCTGT (n.1302-19_1302-18insGTGTCTGT)
c.699-19_699-18insGTGTCTGT (n.699-19_699-18insGTGTCTGT)
n.75-55_75-54insGTGTCTGT
c.1248-55_1248-54insGTGTCTGT (n.1248-55_1248-54insGTGTCTGT)
c.906-55_906-54insGTGTCTGT (n.906-55_906-54insGTGTCTGT)
c.1218-19_1218-18insGTGTCTGT (n.1218-19_1218-18insGTGTCTGT)
c.1218-55_1218-54insGTGTCTGT (n.1218-55_1218-54insGTGTCTGT)
c.362-19_362-18insGTGTCTGT
c.1272-19_1272-18insGTGTCTGT (n.1272-19_1272-18insGTGTCTGT)
c.1176-19_1176-18insGTGTCTGT (n.1176-19_1176-18insGTGTCTGT)
c.783-19_783-18insGTGTCTGT (n.783-19_783-18insGTGTCTGT)
c.1179-19_1179-18insGTGTCTGT (n.1179-19_1179-18insGTGTCTGT)
c.210-19_210-18insGTGTCTGT (n.210-19_210-18insGTGTCTGT)
 dbSNP
20g.63415151_63415152insTACAGACACA2577453719KCNQ2c.1248-19_1248-18insATGTCTGT (n.1248-19_1248-18insATGTCTGT)
c.1302-19_1302-18insATGTCTGT (n.1302-19_1302-18insATGTCTGT)
c.699-19_699-18insATGTCTGT (n.699-19_699-18insATGTCTGT)
n.75-55_75-54insATGTCTGT
c.1248-55_1248-54insATGTCTGT (n.1248-55_1248-54insATGTCTGT)
c.906-55_906-54insATGTCTGT (n.906-55_906-54insATGTCTGT)
c.1218-19_1218-18insATGTCTGT (n.1218-19_1218-18insATGTCTGT)
c.1218-55_1218-54insATGTCTGT (n.1218-55_1218-54insATGTCTGT)
c.362-19_362-18insATGTCTGT
c.1272-19_1272-18insATGTCTGT (n.1272-19_1272-18insATGTCTGT)
c.1176-19_1176-18insATGTCTGT (n.1176-19_1176-18insATGTCTGT)
c.783-19_783-18insATGTCTGT (n.783-19_783-18insATGTCTGT)
c.1179-19_1179-18insATGTCTGT (n.1179-19_1179-18insATGTCTGT)
c.210-19_210-18insATGTCTGT (n.210-19_210-18insATGTCTGT)
 dbSNP gnomAD v4
20g.63415145_63415146insGCAGACAGCA916084261KCNQ2c.1248-20_1248-19insCTGTCTGC (n.1248-20_1248-19insCTGTCTGC)
c.1302-20_1302-19insCTGTCTGC (n.1302-20_1302-19insCTGTCTGC)
c.699-20_699-19insCTGTCTGC (n.699-20_699-19insCTGTCTGC)
n.75-56_75-55insCTGTCTGC
c.1248-56_1248-55insCTGTCTGC (n.1248-56_1248-55insCTGTCTGC)
c.906-56_906-55insCTGTCTGC (n.906-56_906-55insCTGTCTGC)
c.1218-20_1218-19insCTGTCTGC (n.1218-20_1218-19insCTGTCTGC)
c.1218-56_1218-55insCTGTCTGC (n.1218-56_1218-55insCTGTCTGC)
c.362-20_362-19insCTGTCTGC
c.1272-20_1272-19insCTGTCTGC (n.1272-20_1272-19insCTGTCTGC)
c.1176-20_1176-19insCTGTCTGC (n.1176-20_1176-19insCTGTCTGC)
c.783-20_783-19insCTGTCTGC (n.783-20_783-19insCTGTCTGC)
c.1179-20_1179-19insCTGTCTGC (n.1179-20_1179-19insCTGTCTGC)
c.210-20_210-19insCTGTCTGC (n.210-20_210-19insCTGTCTGC)
20g.63415146C=CA2374778885KCNQ2c.1248-20G= (n.1248-20G=)
c.1302-20G= (n.1302-20G=)
c.699-20G= (n.699-20G=)
n.75-56G=
c.1248-56G= (n.1248-56G=)
c.906-56G= (n.906-56G=)
c.1218-20G= (n.1218-20G=)
c.1218-56G= (n.1218-56G=)
c.362-20G=
c.1272-20G= (n.1272-20G=)
c.1176-20G= (n.1176-20G=)
c.783-20G= (n.783-20G=)
c.1179-20G= (n.1179-20G=)
c.210-20G= (n.210-20G=)
20g.63415152_63415153insCCAGACAGCA2653800904KCNQ2c.1248-20_1248-19insGCTGTCTG (n.1248-20_1248-19insGCTGTCTG)
c.1302-20_1302-19insGCTGTCTG (n.1302-20_1302-19insGCTGTCTG)
c.699-20_699-19insGCTGTCTG (n.699-20_699-19insGCTGTCTG)
n.75-56_75-55insGCTGTCTG
c.1248-56_1248-55insGCTGTCTG (n.1248-56_1248-55insGCTGTCTG)
c.906-56_906-55insGCTGTCTG (n.906-56_906-55insGCTGTCTG)
c.1218-20_1218-19insGCTGTCTG (n.1218-20_1218-19insGCTGTCTG)
c.1218-56_1218-55insGCTGTCTG (n.1218-56_1218-55insGCTGTCTG)
c.362-20_362-19insGCTGTCTG
c.1272-20_1272-19insGCTGTCTG (n.1272-20_1272-19insGCTGTCTG)
c.1176-20_1176-19insGCTGTCTG (n.1176-20_1176-19insGCTGTCTG)
c.783-20_783-19insGCTGTCTG (n.783-20_783-19insGCTGTCTG)
c.1179-20_1179-19insGCTGTCTG (n.1179-20_1179-19insGCTGTCTG)
c.210-20_210-19insGCTGTCTG (n.210-20_210-19insGCTGTCTG)
 gnomAD v4
20g.63415152_63415153insGCAGACAGCA315299KCNQ2c.1248-20_1248-19insCCTGTCTG (n.1248-20_1248-19insCCTGTCTG)
c.1302-20_1302-19insCCTGTCTG (n.1302-20_1302-19insCCTGTCTG)
c.699-20_699-19insCCTGTCTG (n.699-20_699-19insCCTGTCTG)
n.75-56_75-55insCCTGTCTG
c.1248-56_1248-55insCCTGTCTG (n.1248-56_1248-55insCCTGTCTG)
c.906-56_906-55insCCTGTCTG (n.906-56_906-55insCCTGTCTG)
c.1218-20_1218-19insCCTGTCTG (n.1218-20_1218-19insCCTGTCTG)
c.1218-56_1218-55insCCTGTCTG (n.1218-56_1218-55insCCTGTCTG)
c.362-20_362-19insCCTGTCTG
c.1272-20_1272-19insCCTGTCTG (n.1272-20_1272-19insCCTGTCTG)
c.1176-20_1176-19insCCTGTCTG (n.1176-20_1176-19insCCTGTCTG)
c.783-20_783-19insCCTGTCTG (n.783-20_783-19insCCTGTCTG)
c.1179-20_1179-19insCCTGTCTG (n.1179-20_1179-19insCCTGTCTG)
c.210-20_210-19insCCTGTCTG (n.210-20_210-19insCCTGTCTG)
 ClinVar dbSNP gnomAD v2
20g.63415152_63415153insTCAGACAGCA2736829658KCNQ2c.1248-20_1248-19insACTGTCTG (n.1248-20_1248-19insACTGTCTG)
c.1302-20_1302-19insACTGTCTG (n.1302-20_1302-19insACTGTCTG)
c.699-20_699-19insACTGTCTG (n.699-20_699-19insACTGTCTG)
n.75-56_75-55insACTGTCTG
c.1248-56_1248-55insACTGTCTG (n.1248-56_1248-55insACTGTCTG)
c.906-56_906-55insACTGTCTG (n.906-56_906-55insACTGTCTG)
c.1218-20_1218-19insACTGTCTG (n.1218-20_1218-19insACTGTCTG)
c.1218-56_1218-55insACTGTCTG (n.1218-56_1218-55insACTGTCTG)
c.362-20_362-19insACTGTCTG
c.1272-20_1272-19insACTGTCTG (n.1272-20_1272-19insACTGTCTG)
c.1176-20_1176-19insACTGTCTG (n.1176-20_1176-19insACTGTCTG)
c.783-20_783-19insACTGTCTG (n.783-20_783-19insACTGTCTG)
c.1179-20_1179-19insACTGTCTG (n.1179-20_1179-19insACTGTCTG)
c.210-20_210-19insACTGTCTG (n.210-20_210-19insACTGTCTG)
 dbSNP
20g.63415147_63415148insTACAGATACA2737061052KCNQ2c.1248-21_1248-20insATCTGTAT (n.1248-21_1248-20insATCTGTAT)
c.1302-21_1302-20insATCTGTAT (n.1302-21_1302-20insATCTGTAT)
c.699-21_699-20insATCTGTAT (n.699-21_699-20insATCTGTAT)
n.75-57_75-56insATCTGTAT
c.1248-57_1248-56insATCTGTAT (n.1248-57_1248-56insATCTGTAT)
c.906-57_906-56insATCTGTAT (n.906-57_906-56insATCTGTAT)
c.1218-21_1218-20insATCTGTAT (n.1218-21_1218-20insATCTGTAT)
c.1218-57_1218-56insATCTGTAT (n.1218-57_1218-56insATCTGTAT)
c.362-21_362-20insATCTGTAT
c.1272-21_1272-20insATCTGTAT (n.1272-21_1272-20insATCTGTAT)
c.1176-21_1176-20insATCTGTAT (n.1176-21_1176-20insATCTGTAT)
c.783-21_783-20insATCTGTAT (n.783-21_783-20insATCTGTAT)
c.1179-21_1179-20insATCTGTAT (n.1179-21_1179-20insATCTGTAT)
c.210-21_210-20insATCTGTAT (n.210-21_210-20insATCTGTAT)
 dbSNP
20g.63415149_63415150insAAGAAAGACA2737061051KCNQ2c.1248-21_1248-20insTTCTTTCT (n.1248-21_1248-20insTTCTTTCT)
c.1302-21_1302-20insTTCTTTCT (n.1302-21_1302-20insTTCTTTCT)
c.699-21_699-20insTTCTTTCT (n.699-21_699-20insTTCTTTCT)
n.75-57_75-56insTTCTTTCT
c.1248-57_1248-56insTTCTTTCT (n.1248-57_1248-56insTTCTTTCT)
c.906-57_906-56insTTCTTTCT (n.906-57_906-56insTTCTTTCT)
c.1218-21_1218-20insTTCTTTCT (n.1218-21_1218-20insTTCTTTCT)
c.1218-57_1218-56insTTCTTTCT (n.1218-57_1218-56insTTCTTTCT)
c.362-21_362-20insTTCTTTCT
c.1272-21_1272-20insTTCTTTCT (n.1272-21_1272-20insTTCTTTCT)
c.1176-21_1176-20insTTCTTTCT (n.1176-21_1176-20insTTCTTTCT)
c.783-21_783-20insTTCTTTCT (n.783-21_783-20insTTCTTTCT)
c.1179-21_1179-20insTTCTTTCT (n.1179-21_1179-20insTTCTTTCT)
c.210-21_210-20insTTCTTTCT (n.210-21_210-20insTTCTTTCT)
 dbSNP
20g.63415153_63415154insAAGACAGACA2653800907KCNQ2c.1248-21_1248-20insTTCTGTCT (n.1248-21_1248-20insTTCTGTCT)
c.1302-21_1302-20insTTCTGTCT (n.1302-21_1302-20insTTCTGTCT)
c.699-21_699-20insTTCTGTCT (n.699-21_699-20insTTCTGTCT)
n.75-57_75-56insTTCTGTCT
c.1248-57_1248-56insTTCTGTCT (n.1248-57_1248-56insTTCTGTCT)
c.906-57_906-56insTTCTGTCT (n.906-57_906-56insTTCTGTCT)
c.1218-21_1218-20insTTCTGTCT (n.1218-21_1218-20insTTCTGTCT)
c.1218-57_1218-56insTTCTGTCT (n.1218-57_1218-56insTTCTGTCT)
c.362-21_362-20insTTCTGTCT
c.1272-21_1272-20insTTCTGTCT (n.1272-21_1272-20insTTCTGTCT)
c.1176-21_1176-20insTTCTGTCT (n.1176-21_1176-20insTTCTGTCT)
c.783-21_783-20insTTCTGTCT (n.783-21_783-20insTTCTGTCT)
c.1179-21_1179-20insTTCTGTCT (n.1179-21_1179-20insTTCTGTCT)
c.210-21_210-20insTTCTGTCT (n.210-21_210-20insTTCTGTCT)
 dbSNP gnomAD v4
20g.63415153_63415154insGAGACAGACA9958487KCNQ2c.1248-21_1248-20insCTCTGTCT (n.1248-21_1248-20insCTCTGTCT)
c.1302-21_1302-20insCTCTGTCT (n.1302-21_1302-20insCTCTGTCT)
c.699-21_699-20insCTCTGTCT (n.699-21_699-20insCTCTGTCT)
n.75-57_75-56insCTCTGTCT
c.1248-57_1248-56insCTCTGTCT (n.1248-57_1248-56insCTCTGTCT)
c.906-57_906-56insCTCTGTCT (n.906-57_906-56insCTCTGTCT)
c.1218-21_1218-20insCTCTGTCT (n.1218-21_1218-20insCTCTGTCT)
c.1218-57_1218-56insCTCTGTCT (n.1218-57_1218-56insCTCTGTCT)
c.362-21_362-20insCTCTGTCT
c.1272-21_1272-20insCTCTGTCT (n.1272-21_1272-20insCTCTGTCT)
c.1176-21_1176-20insCTCTGTCT (n.1176-21_1176-20insCTCTGTCT)
c.783-21_783-20insCTCTGTCT (n.783-21_783-20insCTCTGTCT)
c.1179-21_1179-20insCTCTGTCT (n.1179-21_1179-20insCTCTGTCT)
c.210-21_210-20insCTCTGTCT (n.210-21_210-20insCTCTGTCT)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415153_63415154insTAGACAGACA9958488KCNQ2c.1248-21_1248-20insATCTGTCT (n.1248-21_1248-20insATCTGTCT)
c.1302-21_1302-20insATCTGTCT (n.1302-21_1302-20insATCTGTCT)
c.699-21_699-20insATCTGTCT (n.699-21_699-20insATCTGTCT)
n.75-57_75-56insATCTGTCT
c.1248-57_1248-56insATCTGTCT (n.1248-57_1248-56insATCTGTCT)
c.906-57_906-56insATCTGTCT (n.906-57_906-56insATCTGTCT)
c.1218-21_1218-20insATCTGTCT (n.1218-21_1218-20insATCTGTCT)
c.1218-57_1218-56insATCTGTCT (n.1218-57_1218-56insATCTGTCT)
c.362-21_362-20insATCTGTCT
c.1272-21_1272-20insATCTGTCT (n.1272-21_1272-20insATCTGTCT)
c.1176-21_1176-20insATCTGTCT (n.1176-21_1176-20insATCTGTCT)
c.783-21_783-20insATCTGTCT (n.783-21_783-20insATCTGTCT)
c.1179-21_1179-20insATCTGTCT (n.1179-21_1179-20insATCTGTCT)
c.210-21_210-20insATCTGTCT (n.210-21_210-20insATCTGTCT)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415154_63415155insCGACAGACCA2737061065KCNQ2c.1248-22_1248-21insGGTCTGTC (n.1248-22_1248-21insGGTCTGTC)
c.1302-22_1302-21insGGTCTGTC (n.1302-22_1302-21insGGTCTGTC)
c.699-22_699-21insGGTCTGTC (n.699-22_699-21insGGTCTGTC)
n.75-58_75-57insGGTCTGTC
c.1248-58_1248-57insGGTCTGTC (n.1248-58_1248-57insGGTCTGTC)
c.906-58_906-57insGGTCTGTC (n.906-58_906-57insGGTCTGTC)
c.1218-22_1218-21insGGTCTGTC (n.1218-22_1218-21insGGTCTGTC)
c.1218-58_1218-57insGGTCTGTC (n.1218-58_1218-57insGGTCTGTC)
c.362-22_362-21insGGTCTGTC
c.1272-22_1272-21insGGTCTGTC (n.1272-22_1272-21insGGTCTGTC)
c.1176-22_1176-21insGGTCTGTC (n.1176-22_1176-21insGGTCTGTC)
c.783-22_783-21insGGTCTGTC (n.783-22_783-21insGGTCTGTC)
c.1179-22_1179-21insGGTCTGTC (n.1179-22_1179-21insGGTCTGTC)
c.210-22_210-21insGGTCTGTC (n.210-22_210-21insGGTCTGTC)
 dbSNP
20g.63415154_63415155insGGACAGACCA2737061094KCNQ2c.1248-22_1248-21insCGTCTGTC (n.1248-22_1248-21insCGTCTGTC)
c.1302-22_1302-21insCGTCTGTC (n.1302-22_1302-21insCGTCTGTC)
c.699-22_699-21insCGTCTGTC (n.699-22_699-21insCGTCTGTC)
n.75-58_75-57insCGTCTGTC
c.1248-58_1248-57insCGTCTGTC (n.1248-58_1248-57insCGTCTGTC)
c.906-58_906-57insCGTCTGTC (n.906-58_906-57insCGTCTGTC)
c.1218-22_1218-21insCGTCTGTC (n.1218-22_1218-21insCGTCTGTC)
c.1218-58_1218-57insCGTCTGTC (n.1218-58_1218-57insCGTCTGTC)
c.362-22_362-21insCGTCTGTC
c.1272-22_1272-21insCGTCTGTC (n.1272-22_1272-21insCGTCTGTC)
c.1176-22_1176-21insCGTCTGTC (n.1176-22_1176-21insCGTCTGTC)
c.783-22_783-21insCGTCTGTC (n.783-22_783-21insCGTCTGTC)
c.1179-22_1179-21insCGTCTGTC (n.1179-22_1179-21insCGTCTGTC)
c.210-22_210-21insCGTCTGTC (n.210-22_210-21insCGTCTGTC)
 dbSNP
20g.63415154_63415155insTGACAGACCA2737061099KCNQ2c.1248-22_1248-21insAGTCTGTC (n.1248-22_1248-21insAGTCTGTC)
c.1302-22_1302-21insAGTCTGTC (n.1302-22_1302-21insAGTCTGTC)
c.699-22_699-21insAGTCTGTC (n.699-22_699-21insAGTCTGTC)
n.75-58_75-57insAGTCTGTC
c.1248-58_1248-57insAGTCTGTC (n.1248-58_1248-57insAGTCTGTC)
c.906-58_906-57insAGTCTGTC (n.906-58_906-57insAGTCTGTC)
c.1218-22_1218-21insAGTCTGTC (n.1218-22_1218-21insAGTCTGTC)
c.1218-58_1218-57insAGTCTGTC (n.1218-58_1218-57insAGTCTGTC)
c.362-22_362-21insAGTCTGTC
c.1272-22_1272-21insAGTCTGTC (n.1272-22_1272-21insAGTCTGTC)
c.1176-22_1176-21insAGTCTGTC (n.1176-22_1176-21insAGTCTGTC)
c.783-22_783-21insAGTCTGTC (n.783-22_783-21insAGTCTGTC)
c.1179-22_1179-21insAGTCTGTC (n.1179-22_1179-21insAGTCTGTC)
c.210-22_210-21insAGTCTGTC (n.210-22_210-21insAGTCTGTC)
 dbSNP
20g.63415149_63415150insAAGACAAACA2737061118KCNQ2c.1248-23_1248-22insTTGTCTTT (n.1248-23_1248-22insTTGTCTTT)
c.1302-23_1302-22insTTGTCTTT (n.1302-23_1302-22insTTGTCTTT)
c.699-23_699-22insTTGTCTTT (n.699-23_699-22insTTGTCTTT)
n.75-59_75-58insTTGTCTTT
c.1248-59_1248-58insTTGTCTTT (n.1248-59_1248-58insTTGTCTTT)
c.906-59_906-58insTTGTCTTT (n.906-59_906-58insTTGTCTTT)
c.1218-23_1218-22insTTGTCTTT (n.1218-23_1218-22insTTGTCTTT)
c.1218-59_1218-58insTTGTCTTT (n.1218-59_1218-58insTTGTCTTT)
c.362-23_362-22insTTGTCTTT
c.1272-23_1272-22insTTGTCTTT (n.1272-23_1272-22insTTGTCTTT)
c.1176-23_1176-22insTTGTCTTT (n.1176-23_1176-22insTTGTCTTT)
c.783-23_783-22insTTGTCTTT (n.783-23_783-22insTTGTCTTT)
c.1179-23_1179-22insTTGTCTTT (n.1179-23_1179-22insTTGTCTTT)
c.210-23_210-22insTTGTCTTT (n.210-23_210-22insTTGTCTTT)
 dbSNP
20g.63415151_63415152insTACATACACA2737061165KCNQ2c.1248-23_1248-22insATGTATGT (n.1248-23_1248-22insATGTATGT)
c.1302-23_1302-22insATGTATGT (n.1302-23_1302-22insATGTATGT)
c.699-23_699-22insATGTATGT (n.699-23_699-22insATGTATGT)
n.75-59_75-58insATGTATGT
c.1248-59_1248-58insATGTATGT (n.1248-59_1248-58insATGTATGT)
c.906-59_906-58insATGTATGT (n.906-59_906-58insATGTATGT)
c.1218-23_1218-22insATGTATGT (n.1218-23_1218-22insATGTATGT)
c.1218-59_1218-58insATGTATGT (n.1218-59_1218-58insATGTATGT)
c.362-23_362-22insATGTATGT
c.1272-23_1272-22insATGTATGT (n.1272-23_1272-22insATGTATGT)
c.1176-23_1176-22insATGTATGT (n.1176-23_1176-22insATGTATGT)
c.783-23_783-22insATGTATGT (n.783-23_783-22insATGTATGT)
c.1179-23_1179-22insATGTATGT (n.1179-23_1179-22insATGTATGT)
c.210-23_210-22insATGTATGT (n.210-23_210-22insATGTATGT)
 dbSNP
20g.63415155_63415156insAACAGACACA2737061155KCNQ2c.1248-23_1248-22insTTGTCTGT (n.1248-23_1248-22insTTGTCTGT)
c.1302-23_1302-22insTTGTCTGT (n.1302-23_1302-22insTTGTCTGT)
c.699-23_699-22insTTGTCTGT (n.699-23_699-22insTTGTCTGT)
n.75-59_75-58insTTGTCTGT
c.1248-59_1248-58insTTGTCTGT (n.1248-59_1248-58insTTGTCTGT)
c.906-59_906-58insTTGTCTGT (n.906-59_906-58insTTGTCTGT)
c.1218-23_1218-22insTTGTCTGT (n.1218-23_1218-22insTTGTCTGT)
c.1218-59_1218-58insTTGTCTGT (n.1218-59_1218-58insTTGTCTGT)
c.362-23_362-22insTTGTCTGT
c.1272-23_1272-22insTTGTCTGT (n.1272-23_1272-22insTTGTCTGT)
c.1176-23_1176-22insTTGTCTGT (n.1176-23_1176-22insTTGTCTGT)
c.783-23_783-22insTTGTCTGT (n.783-23_783-22insTTGTCTGT)
c.1179-23_1179-22insTTGTCTGT (n.1179-23_1179-22insTTGTCTGT)
c.210-23_210-22insTTGTCTGT (n.210-23_210-22insTTGTCTGT)
 dbSNP
20g.63415155_63415156insCACAGACACA2737061163KCNQ2c.1248-23_1248-22insGTGTCTGT (n.1248-23_1248-22insGTGTCTGT)
c.1302-23_1302-22insGTGTCTGT (n.1302-23_1302-22insGTGTCTGT)
c.699-23_699-22insGTGTCTGT (n.699-23_699-22insGTGTCTGT)
n.75-59_75-58insGTGTCTGT
c.1248-59_1248-58insGTGTCTGT (n.1248-59_1248-58insGTGTCTGT)
c.906-59_906-58insGTGTCTGT (n.906-59_906-58insGTGTCTGT)
c.1218-23_1218-22insGTGTCTGT (n.1218-23_1218-22insGTGTCTGT)
c.1218-59_1218-58insGTGTCTGT (n.1218-59_1218-58insGTGTCTGT)
c.362-23_362-22insGTGTCTGT
c.1272-23_1272-22insGTGTCTGT (n.1272-23_1272-22insGTGTCTGT)
c.1176-23_1176-22insGTGTCTGT (n.1176-23_1176-22insGTGTCTGT)
c.783-23_783-22insGTGTCTGT (n.783-23_783-22insGTGTCTGT)
c.1179-23_1179-22insGTGTCTGT (n.1179-23_1179-22insGTGTCTGT)
c.210-23_210-22insGTGTCTGT (n.210-23_210-22insGTGTCTGT)
 dbSNP
20g.63415155_63415156insTACAGACACA2653800909KCNQ2c.1248-23_1248-22insATGTCTGT (n.1248-23_1248-22insATGTCTGT)
c.1302-23_1302-22insATGTCTGT (n.1302-23_1302-22insATGTCTGT)
c.699-23_699-22insATGTCTGT (n.699-23_699-22insATGTCTGT)
n.75-59_75-58insATGTCTGT
c.1248-59_1248-58insATGTCTGT (n.1248-59_1248-58insATGTCTGT)
c.906-59_906-58insATGTCTGT (n.906-59_906-58insATGTCTGT)
c.1218-23_1218-22insATGTCTGT (n.1218-23_1218-22insATGTCTGT)
c.1218-59_1218-58insATGTCTGT (n.1218-59_1218-58insATGTCTGT)
c.362-23_362-22insATGTCTGT
c.1272-23_1272-22insATGTCTGT (n.1272-23_1272-22insATGTCTGT)
c.1176-23_1176-22insATGTCTGT (n.1176-23_1176-22insATGTCTGT)
c.783-23_783-22insATGTCTGT (n.783-23_783-22insATGTCTGT)
c.1179-23_1179-22insATGTCTGT (n.1179-23_1179-22insATGTCTGT)
c.210-23_210-22insATGTCTGT (n.210-23_210-22insATGTCTGT)
 dbSNP gnomAD v4
20g.63415150C=CA2374778886KCNQ2c.1248-24G= (n.1248-24G=)
c.1302-24G= (n.1302-24G=)
c.699-24G= (n.699-24G=)
n.75-60G=
c.1248-60G= (n.1248-60G=)
c.906-60G= (n.906-60G=)
c.1218-24G= (n.1218-24G=)
c.1218-60G= (n.1218-60G=)
c.362-24G=
c.1272-24G= (n.1272-24G=)
c.1176-24G= (n.1176-24G=)
c.783-24G= (n.783-24G=)
c.1179-24G= (n.1179-24G=)
c.210-24G= (n.210-24G=)
20g.63415153_63415154insGAGGCAGACA2737061174KCNQ2c.1248-24_1248-23insCCTCTCTG (n.1248-24_1248-23insCCTCTCTG)
c.1302-24_1302-23insCCTCTCTG (n.1302-24_1302-23insCCTCTCTG)
c.699-24_699-23insCCTCTCTG (n.699-24_699-23insCCTCTCTG)
n.75-60_75-59insCCTCTCTG
c.1248-60_1248-59insCCTCTCTG (n.1248-60_1248-59insCCTCTCTG)
c.906-60_906-59insCCTCTCTG (n.906-60_906-59insCCTCTCTG)
c.1218-24_1218-23insCCTCTCTG (n.1218-24_1218-23insCCTCTCTG)
c.1218-60_1218-59insCCTCTCTG (n.1218-60_1218-59insCCTCTCTG)
c.362-24_362-23insCCTCTCTG
c.1272-24_1272-23insCCTCTCTG (n.1272-24_1272-23insCCTCTCTG)
c.1176-24_1176-23insCCTCTCTG (n.1176-24_1176-23insCCTCTCTG)
c.783-24_783-23insCCTCTCTG (n.783-24_783-23insCCTCTCTG)
c.1179-24_1179-23insCCTCTCTG (n.1179-24_1179-23insCCTCTCTG)
c.210-24_210-23insCCTCTCTG (n.210-24_210-23insCCTCTCTG)
 dbSNP
20g.63415153_63415154insGAGTCAGACA2737061181KCNQ2c.1248-24_1248-23insACTCTCTG (n.1248-24_1248-23insACTCTCTG)
c.1302-24_1302-23insACTCTCTG (n.1302-24_1302-23insACTCTCTG)
c.699-24_699-23insACTCTCTG (n.699-24_699-23insACTCTCTG)
n.75-60_75-59insACTCTCTG
c.1248-60_1248-59insACTCTCTG (n.1248-60_1248-59insACTCTCTG)
c.906-60_906-59insACTCTCTG (n.906-60_906-59insACTCTCTG)
c.1218-24_1218-23insACTCTCTG (n.1218-24_1218-23insACTCTCTG)
c.1218-60_1218-59insACTCTCTG (n.1218-60_1218-59insACTCTCTG)
c.362-24_362-23insACTCTCTG
c.1272-24_1272-23insACTCTCTG (n.1272-24_1272-23insACTCTCTG)
c.1176-24_1176-23insACTCTCTG (n.1176-24_1176-23insACTCTCTG)
c.783-24_783-23insACTCTCTG (n.783-24_783-23insACTCTCTG)
c.1179-24_1179-23insACTCTCTG (n.1179-24_1179-23insACTCTCTG)
c.210-24_210-23insACTCTCTG (n.210-24_210-23insACTCTCTG)
 dbSNP
20g.63415156_63415157insCCAGACAGCA2737061255KCNQ2c.1248-24_1248-23insGCTGTCTG (n.1248-24_1248-23insGCTGTCTG)
c.1302-24_1302-23insGCTGTCTG (n.1302-24_1302-23insGCTGTCTG)
c.699-24_699-23insGCTGTCTG (n.699-24_699-23insGCTGTCTG)
n.75-60_75-59insGCTGTCTG
c.1248-60_1248-59insGCTGTCTG (n.1248-60_1248-59insGCTGTCTG)
c.906-60_906-59insGCTGTCTG (n.906-60_906-59insGCTGTCTG)
c.1218-24_1218-23insGCTGTCTG (n.1218-24_1218-23insGCTGTCTG)
c.1218-60_1218-59insGCTGTCTG (n.1218-60_1218-59insGCTGTCTG)
c.362-24_362-23insGCTGTCTG
c.1272-24_1272-23insGCTGTCTG (n.1272-24_1272-23insGCTGTCTG)
c.1176-24_1176-23insGCTGTCTG (n.1176-24_1176-23insGCTGTCTG)
c.783-24_783-23insGCTGTCTG (n.783-24_783-23insGCTGTCTG)
c.1179-24_1179-23insGCTGTCTG (n.1179-24_1179-23insGCTGTCTG)
c.210-24_210-23insGCTGTCTG (n.210-24_210-23insGCTGTCTG)
 dbSNP
20g.63415156_63415157insGCAGACAGCA2737061278KCNQ2c.1248-24_1248-23insCCTGTCTG (n.1248-24_1248-23insCCTGTCTG)
c.1302-24_1302-23insCCTGTCTG (n.1302-24_1302-23insCCTGTCTG)
c.699-24_699-23insCCTGTCTG (n.699-24_699-23insCCTGTCTG)
n.75-60_75-59insCCTGTCTG
c.1248-60_1248-59insCCTGTCTG (n.1248-60_1248-59insCCTGTCTG)
c.906-60_906-59insCCTGTCTG (n.906-60_906-59insCCTGTCTG)
c.1218-24_1218-23insCCTGTCTG (n.1218-24_1218-23insCCTGTCTG)
c.1218-60_1218-59insCCTGTCTG (n.1218-60_1218-59insCCTGTCTG)
c.362-24_362-23insCCTGTCTG
c.1272-24_1272-23insCCTGTCTG (n.1272-24_1272-23insCCTGTCTG)
c.1176-24_1176-23insCCTGTCTG (n.1176-24_1176-23insCCTGTCTG)
c.783-24_783-23insCCTGTCTG (n.783-24_783-23insCCTGTCTG)
c.1179-24_1179-23insCCTGTCTG (n.1179-24_1179-23insCCTGTCTG)
c.210-24_210-23insCCTGTCTG (n.210-24_210-23insCCTGTCTG)
 dbSNP
20g.63415156_63415157insTCAGACAGCA2737061267KCNQ2c.1248-24_1248-23insACTGTCTG (n.1248-24_1248-23insACTGTCTG)
c.1302-24_1302-23insACTGTCTG (n.1302-24_1302-23insACTGTCTG)
c.699-24_699-23insACTGTCTG (n.699-24_699-23insACTGTCTG)
n.75-60_75-59insACTGTCTG
c.1248-60_1248-59insACTGTCTG (n.1248-60_1248-59insACTGTCTG)
c.906-60_906-59insACTGTCTG (n.906-60_906-59insACTGTCTG)
c.1218-24_1218-23insACTGTCTG (n.1218-24_1218-23insACTGTCTG)
c.1218-60_1218-59insACTGTCTG (n.1218-60_1218-59insACTGTCTG)
c.362-24_362-23insACTGTCTG
c.1272-24_1272-23insACTGTCTG (n.1272-24_1272-23insACTGTCTG)
c.1176-24_1176-23insACTGTCTG (n.1176-24_1176-23insACTGTCTG)
c.783-24_783-23insACTGTCTG (n.783-24_783-23insACTGTCTG)
c.1179-24_1179-23insACTGTCTG (n.1179-24_1179-23insACTGTCTG)
c.210-24_210-23insACTGTCTG (n.210-24_210-23insACTGTCTG)
 dbSNP
20g.63415157_63415158insGAGACAGACA9958489KCNQ2c.1248-25_1248-24insCTCTGTCT (n.1248-25_1248-24insCTCTGTCT)
c.1302-25_1302-24insCTCTGTCT (n.1302-25_1302-24insCTCTGTCT)
c.699-25_699-24insCTCTGTCT (n.699-25_699-24insCTCTGTCT)
n.75-61_75-60insCTCTGTCT
c.1248-61_1248-60insCTCTGTCT (n.1248-61_1248-60insCTCTGTCT)
c.906-61_906-60insCTCTGTCT (n.906-61_906-60insCTCTGTCT)
c.1218-25_1218-24insCTCTGTCT (n.1218-25_1218-24insCTCTGTCT)
c.1218-61_1218-60insCTCTGTCT (n.1218-61_1218-60insCTCTGTCT)
c.362-25_362-24insCTCTGTCT
c.1272-25_1272-24insCTCTGTCT (n.1272-25_1272-24insCTCTGTCT)
c.1176-25_1176-24insCTCTGTCT (n.1176-25_1176-24insCTCTGTCT)
c.783-25_783-24insCTCTGTCT (n.783-25_783-24insCTCTGTCT)
c.1179-25_1179-24insCTCTGTCT (n.1179-25_1179-24insCTCTGTCT)
c.210-25_210-24insCTCTGTCT (n.210-25_210-24insCTCTGTCT)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415157_63415158insTAGACAGACA2653800910KCNQ2c.1248-25_1248-24insATCTGTCT (n.1248-25_1248-24insATCTGTCT)
c.1302-25_1302-24insATCTGTCT (n.1302-25_1302-24insATCTGTCT)
c.699-25_699-24insATCTGTCT (n.699-25_699-24insATCTGTCT)
n.75-61_75-60insATCTGTCT
c.1248-61_1248-60insATCTGTCT (n.1248-61_1248-60insATCTGTCT)
c.906-61_906-60insATCTGTCT (n.906-61_906-60insATCTGTCT)
c.1218-25_1218-24insATCTGTCT (n.1218-25_1218-24insATCTGTCT)
c.1218-61_1218-60insATCTGTCT (n.1218-61_1218-60insATCTGTCT)
c.362-25_362-24insATCTGTCT
c.1272-25_1272-24insATCTGTCT (n.1272-25_1272-24insATCTGTCT)
c.1176-25_1176-24insATCTGTCT (n.1176-25_1176-24insATCTGTCT)
c.783-25_783-24insATCTGTCT (n.783-25_783-24insATCTGTCT)
c.1179-25_1179-24insATCTGTCT (n.1179-25_1179-24insATCTGTCT)
c.210-25_210-24insATCTGTCT (n.210-25_210-24insATCTGTCT)
 dbSNP gnomAD v4
20g.63415152_63415159dupCA2737061355KCNQ2c.1248-32_1248-25dup (n.1248-32_1248-25dup)
c.1302-32_1302-25dup (n.1302-32_1302-25dup)
c.699-32_699-25dup (n.699-32_699-25dup)
n.75-68_75-61dup
c.1248-68_1248-61dup (n.1248-68_1248-61dup)
c.906-68_906-61dup (n.906-68_906-61dup)
c.1218-32_1218-25dup (n.1218-32_1218-25dup)
c.1218-68_1218-61dup (n.1218-68_1218-61dup)
c.362-32_362-25dup
c.1272-32_1272-25dup (n.1272-32_1272-25dup)
c.1176-32_1176-25dup (n.1176-32_1176-25dup)
c.783-32_783-25dup (n.783-32_783-25dup)
c.1179-32_1179-25dup (n.1179-32_1179-25dup)
c.210-32_210-25dup (n.210-32_210-25dup)
 dbSNP
20g.63415152G>ACA317431377KCNQ2c.1248-26C>T (n.1248-26C>T)
c.1302-26C>T (n.1302-26C>T)
c.699-26C>T (n.699-26C>T)
n.75-62C>T
c.1248-62C>T (n.1248-62C>T)
c.906-62C>T (n.906-62C>T)
c.1218-26C>T (n.1218-26C>T)
c.1218-62C>T (n.1218-62C>T)
c.362-26C>T
c.1272-26C>T (n.1272-26C>T)
c.1176-26C>T (n.1176-26C>T)
c.783-26C>T (n.783-26C>T)
c.1179-26C>T (n.1179-26C>T)
c.210-26C>T (n.210-26C>T)
 dbSNP
20g.63415152G=CA2374778887KCNQ2c.1248-26C= (n.1248-26C=)
c.1302-26C= (n.1302-26C=)
c.699-26C= (n.699-26C=)
n.75-62C=
c.1248-62C= (n.1248-62C=)
c.906-62C= (n.906-62C=)
c.1218-26C= (n.1218-26C=)
c.1218-62C= (n.1218-62C=)
c.362-26C=
c.1272-26C= (n.1272-26C=)
c.1176-26C= (n.1176-26C=)
c.783-26C= (n.783-26C=)
c.1179-26C= (n.1179-26C=)
c.210-26C= (n.210-26C=)
20g.63415152G>TCA2577453723KCNQ2c.1248-26C>A (n.1248-26C>A)
c.1302-26C>A (n.1302-26C>A)
c.699-26C>A (n.699-26C>A)
n.75-62C>A
c.1248-62C>A (n.1248-62C>A)
c.906-62C>A (n.906-62C>A)
c.1218-26C>A (n.1218-26C>A)
c.1218-62C>A (n.1218-62C>A)
c.362-26C>A
c.1272-26C>A (n.1272-26C>A)
c.1176-26C>A (n.1176-26C>A)
c.783-26C>A (n.783-26C>A)
c.1179-26C>A (n.1179-26C>A)
c.210-26C>A (n.210-26C>A)
20g.63415157_63415158insCCGACAGACA2737061368KCNQ2c.1248-26_1248-25insGGTCTGTC (n.1248-26_1248-25insGGTCTGTC)
c.1302-26_1302-25insGGTCTGTC (n.1302-26_1302-25insGGTCTGTC)
c.699-26_699-25insGGTCTGTC (n.699-26_699-25insGGTCTGTC)
n.75-62_75-61insGGTCTGTC
c.1248-62_1248-61insGGTCTGTC (n.1248-62_1248-61insGGTCTGTC)
c.906-62_906-61insGGTCTGTC (n.906-62_906-61insGGTCTGTC)
c.1218-26_1218-25insGGTCTGTC (n.1218-26_1218-25insGGTCTGTC)
c.1218-62_1218-61insGGTCTGTC (n.1218-62_1218-61insGGTCTGTC)
c.362-26_362-25insGGTCTGTC
c.1272-26_1272-25insGGTCTGTC (n.1272-26_1272-25insGGTCTGTC)
c.1176-26_1176-25insGGTCTGTC (n.1176-26_1176-25insGGTCTGTC)
c.783-26_783-25insGGTCTGTC (n.783-26_783-25insGGTCTGTC)
c.1179-26_1179-25insGGTCTGTC (n.1179-26_1179-25insGGTCTGTC)
c.210-26_210-25insGGTCTGTC (n.210-26_210-25insGGTCTGTC)
 dbSNP
20g.63415157_63415158insCGGACAGACA2653800911KCNQ2c.1248-26_1248-25insCGTCTGTC (n.1248-26_1248-25insCGTCTGTC)
c.1302-26_1302-25insCGTCTGTC (n.1302-26_1302-25insCGTCTGTC)
c.699-26_699-25insCGTCTGTC (n.699-26_699-25insCGTCTGTC)
n.75-62_75-61insCGTCTGTC
c.1248-62_1248-61insCGTCTGTC (n.1248-62_1248-61insCGTCTGTC)
c.906-62_906-61insCGTCTGTC (n.906-62_906-61insCGTCTGTC)
c.1218-26_1218-25insCGTCTGTC (n.1218-26_1218-25insCGTCTGTC)
c.1218-62_1218-61insCGTCTGTC (n.1218-62_1218-61insCGTCTGTC)
c.362-26_362-25insCGTCTGTC
c.1272-26_1272-25insCGTCTGTC (n.1272-26_1272-25insCGTCTGTC)
c.1176-26_1176-25insCGTCTGTC (n.1176-26_1176-25insCGTCTGTC)
c.783-26_783-25insCGTCTGTC (n.783-26_783-25insCGTCTGTC)
c.1179-26_1179-25insCGTCTGTC (n.1179-26_1179-25insCGTCTGTC)
c.210-26_210-25insCGTCTGTC (n.210-26_210-25insCGTCTGTC)
 dbSNP gnomAD v4
20g.63415157_63415158insCTGACAGACA2737061516KCNQ2c.1248-26_1248-25insAGTCTGTC (n.1248-26_1248-25insAGTCTGTC)
c.1302-26_1302-25insAGTCTGTC (n.1302-26_1302-25insAGTCTGTC)
c.699-26_699-25insAGTCTGTC (n.699-26_699-25insAGTCTGTC)
n.75-62_75-61insAGTCTGTC
c.1248-62_1248-61insAGTCTGTC (n.1248-62_1248-61insAGTCTGTC)
c.906-62_906-61insAGTCTGTC (n.906-62_906-61insAGTCTGTC)
c.1218-26_1218-25insAGTCTGTC (n.1218-26_1218-25insAGTCTGTC)
c.1218-62_1218-61insAGTCTGTC (n.1218-62_1218-61insAGTCTGTC)
c.362-26_362-25insAGTCTGTC
c.1272-26_1272-25insAGTCTGTC (n.1272-26_1272-25insAGTCTGTC)
c.1176-26_1176-25insAGTCTGTC (n.1176-26_1176-25insAGTCTGTC)
c.783-26_783-25insAGTCTGTC (n.783-26_783-25insAGTCTGTC)
c.1179-26_1179-25insAGTCTGTC (n.1179-26_1179-25insAGTCTGTC)
c.210-26_210-25insAGTCTGTC (n.210-26_210-25insAGTCTGTC)
 dbSNP
20g.63415156_63415157insCCACACAGCA2737061526KCNQ2c.1248-27_1248-26insGTGGCTGT (n.1248-27_1248-26insGTGGCTGT)
c.1302-27_1302-26insGTGGCTGT (n.1302-27_1302-26insGTGGCTGT)
c.699-27_699-26insGTGGCTGT (n.699-27_699-26insGTGGCTGT)
n.75-63_75-62insGTGGCTGT
c.1248-63_1248-62insGTGGCTGT (n.1248-63_1248-62insGTGGCTGT)
c.906-63_906-62insGTGGCTGT (n.906-63_906-62insGTGGCTGT)
c.1218-27_1218-26insGTGGCTGT (n.1218-27_1218-26insGTGGCTGT)
c.1218-63_1218-62insGTGGCTGT (n.1218-63_1218-62insGTGGCTGT)
c.362-27_362-26insGTGGCTGT
c.1272-27_1272-26insGTGGCTGT (n.1272-27_1272-26insGTGGCTGT)
c.1176-27_1176-26insGTGGCTGT (n.1176-27_1176-26insGTGGCTGT)
c.783-27_783-26insGTGGCTGT (n.783-27_783-26insGTGGCTGT)
c.1179-27_1179-26insGTGGCTGT (n.1179-27_1179-26insGTGGCTGT)
c.210-27_210-26insGTGGCTGT (n.210-27_210-26insGTGGCTGT)
 dbSNP
20g.63415157_63415158insCAAACAGACA9958490KCNQ2c.1248-27_1248-26insTTGTCTGT (n.1248-27_1248-26insTTGTCTGT)
c.1302-27_1302-26insTTGTCTGT (n.1302-27_1302-26insTTGTCTGT)
c.699-27_699-26insTTGTCTGT (n.699-27_699-26insTTGTCTGT)
n.75-63_75-62insTTGTCTGT
c.1248-63_1248-62insTTGTCTGT (n.1248-63_1248-62insTTGTCTGT)
c.906-63_906-62insTTGTCTGT (n.906-63_906-62insTTGTCTGT)
c.1218-27_1218-26insTTGTCTGT (n.1218-27_1218-26insTTGTCTGT)
c.1218-63_1218-62insTTGTCTGT (n.1218-63_1218-62insTTGTCTGT)
c.362-27_362-26insTTGTCTGT
c.1272-27_1272-26insTTGTCTGT (n.1272-27_1272-26insTTGTCTGT)
c.1176-27_1176-26insTTGTCTGT (n.1176-27_1176-26insTTGTCTGT)
c.783-27_783-26insTTGTCTGT (n.783-27_783-26insTTGTCTGT)
c.1179-27_1179-26insTTGTCTGT (n.1179-27_1179-26insTTGTCTGT)
c.210-27_210-26insTTGTCTGT (n.210-27_210-26insTTGTCTGT)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415157_63415158insCACACAGACA2736827450KCNQ2c.1248-27_1248-26insGTGTCTGT (n.1248-27_1248-26insGTGTCTGT)
c.1302-27_1302-26insGTGTCTGT (n.1302-27_1302-26insGTGTCTGT)
c.699-27_699-26insGTGTCTGT (n.699-27_699-26insGTGTCTGT)
n.75-63_75-62insGTGTCTGT
c.1248-63_1248-62insGTGTCTGT (n.1248-63_1248-62insGTGTCTGT)
c.906-63_906-62insGTGTCTGT (n.906-63_906-62insGTGTCTGT)
c.1218-27_1218-26insGTGTCTGT (n.1218-27_1218-26insGTGTCTGT)
c.1218-63_1218-62insGTGTCTGT (n.1218-63_1218-62insGTGTCTGT)
c.362-27_362-26insGTGTCTGT
c.1272-27_1272-26insGTGTCTGT (n.1272-27_1272-26insGTGTCTGT)
c.1176-27_1176-26insGTGTCTGT (n.1176-27_1176-26insGTGTCTGT)
c.783-27_783-26insGTGTCTGT (n.783-27_783-26insGTGTCTGT)
c.1179-27_1179-26insGTGTCTGT (n.1179-27_1179-26insGTGTCTGT)
c.210-27_210-26insGTGTCTGT (n.210-27_210-26insGTGTCTGT)
 dbSNP
20g.63415157_63415158insCATACAGACA2653800916KCNQ2c.1248-27_1248-26insATGTCTGT (n.1248-27_1248-26insATGTCTGT)
c.1302-27_1302-26insATGTCTGT (n.1302-27_1302-26insATGTCTGT)
c.699-27_699-26insATGTCTGT (n.699-27_699-26insATGTCTGT)
n.75-63_75-62insATGTCTGT
c.1248-63_1248-62insATGTCTGT (n.1248-63_1248-62insATGTCTGT)
c.906-63_906-62insATGTCTGT (n.906-63_906-62insATGTCTGT)
c.1218-27_1218-26insATGTCTGT (n.1218-27_1218-26insATGTCTGT)
c.1218-63_1218-62insATGTCTGT (n.1218-63_1218-62insATGTCTGT)
c.362-27_362-26insATGTCTGT
c.1272-27_1272-26insATGTCTGT (n.1272-27_1272-26insATGTCTGT)
c.1176-27_1176-26insATGTCTGT (n.1176-27_1176-26insATGTCTGT)
c.783-27_783-26insATGTCTGT (n.783-27_783-26insATGTCTGT)
c.1179-27_1179-26insATGTCTGT (n.1179-27_1179-26insATGTCTGT)
c.210-27_210-26insATGTCTGT (n.210-27_210-26insATGTCTGT)
 dbSNP gnomAD v4
20g.63415157_63415164dupCA2737061528KCNQ2c.1248-34_1248-27dup (n.1248-34_1248-27dup)
c.1302-34_1302-27dup (n.1302-34_1302-27dup)
c.699-34_699-27dup (n.699-34_699-27dup)
n.75-70_75-63dup
c.1248-70_1248-63dup (n.1248-70_1248-63dup)
c.906-70_906-63dup (n.906-70_906-63dup)
c.1218-34_1218-27dup (n.1218-34_1218-27dup)
c.1218-70_1218-63dup (n.1218-70_1218-63dup)
c.362-34_362-27dup
c.1272-34_1272-27dup (n.1272-34_1272-27dup)
c.1176-34_1176-27dup (n.1176-34_1176-27dup)
c.783-34_783-27dup (n.783-34_783-27dup)
c.1179-34_1179-27dup (n.1179-34_1179-27dup)
c.210-34_210-27dup (n.210-34_210-27dup)
 dbSNP
20g.63415154C=CA2374778888KCNQ2c.1248-28G= (n.1248-28G=)
c.1302-28G= (n.1302-28G=)
c.699-28G= (n.699-28G=)
n.75-64G=
c.1248-64G= (n.1248-64G=)
c.906-64G= (n.906-64G=)
c.1218-28G= (n.1218-28G=)
c.1218-64G= (n.1218-64G=)
c.362-28G=
c.1272-28G= (n.1272-28G=)
c.1176-28G= (n.1176-28G=)
c.783-28G= (n.783-28G=)
c.1179-28G= (n.1179-28G=)
c.210-28G= (n.210-28G=)
20g.63415157_63415158insCAGCCAGACA2737061589KCNQ2c.1248-28_1248-27insGCTGTCTG (n.1248-28_1248-27insGCTGTCTG)
c.1302-28_1302-27insGCTGTCTG (n.1302-28_1302-27insGCTGTCTG)
c.699-28_699-27insGCTGTCTG (n.699-28_699-27insGCTGTCTG)
n.75-64_75-63insGCTGTCTG
c.1248-64_1248-63insGCTGTCTG (n.1248-64_1248-63insGCTGTCTG)
c.906-64_906-63insGCTGTCTG (n.906-64_906-63insGCTGTCTG)
c.1218-28_1218-27insGCTGTCTG (n.1218-28_1218-27insGCTGTCTG)
c.1218-64_1218-63insGCTGTCTG (n.1218-64_1218-63insGCTGTCTG)
c.362-28_362-27insGCTGTCTG
c.1272-28_1272-27insGCTGTCTG (n.1272-28_1272-27insGCTGTCTG)
c.1176-28_1176-27insGCTGTCTG (n.1176-28_1176-27insGCTGTCTG)
c.783-28_783-27insGCTGTCTG (n.783-28_783-27insGCTGTCTG)
c.1179-28_1179-27insGCTGTCTG (n.1179-28_1179-27insGCTGTCTG)
c.210-28_210-27insGCTGTCTG (n.210-28_210-27insGCTGTCTG)
 dbSNP
20g.63415157_63415158insCAGGCAGACA2653800919KCNQ2c.1248-28_1248-27insCCTGTCTG (n.1248-28_1248-27insCCTGTCTG)
c.1302-28_1302-27insCCTGTCTG (n.1302-28_1302-27insCCTGTCTG)
c.699-28_699-27insCCTGTCTG (n.699-28_699-27insCCTGTCTG)
n.75-64_75-63insCCTGTCTG
c.1248-64_1248-63insCCTGTCTG (n.1248-64_1248-63insCCTGTCTG)
c.906-64_906-63insCCTGTCTG (n.906-64_906-63insCCTGTCTG)
c.1218-28_1218-27insCCTGTCTG (n.1218-28_1218-27insCCTGTCTG)
c.1218-64_1218-63insCCTGTCTG (n.1218-64_1218-63insCCTGTCTG)
c.362-28_362-27insCCTGTCTG
c.1272-28_1272-27insCCTGTCTG (n.1272-28_1272-27insCCTGTCTG)
c.1176-28_1176-27insCCTGTCTG (n.1176-28_1176-27insCCTGTCTG)
c.783-28_783-27insCCTGTCTG (n.783-28_783-27insCCTGTCTG)
c.1179-28_1179-27insCCTGTCTG (n.1179-28_1179-27insCCTGTCTG)
c.210-28_210-27insCCTGTCTG (n.210-28_210-27insCCTGTCTG)
 dbSNP gnomAD v4
20g.63415157_63415158insCAGTCAGACA2737061551KCNQ2c.1248-28_1248-27insACTGTCTG (n.1248-28_1248-27insACTGTCTG)
c.1302-28_1302-27insACTGTCTG (n.1302-28_1302-27insACTGTCTG)
c.699-28_699-27insACTGTCTG (n.699-28_699-27insACTGTCTG)
n.75-64_75-63insACTGTCTG
c.1248-64_1248-63insACTGTCTG (n.1248-64_1248-63insACTGTCTG)
c.906-64_906-63insACTGTCTG (n.906-64_906-63insACTGTCTG)
c.1218-28_1218-27insACTGTCTG (n.1218-28_1218-27insACTGTCTG)
c.1218-64_1218-63insACTGTCTG (n.1218-64_1218-63insACTGTCTG)
c.362-28_362-27insACTGTCTG
c.1272-28_1272-27insACTGTCTG (n.1272-28_1272-27insACTGTCTG)
c.1176-28_1176-27insACTGTCTG (n.1176-28_1176-27insACTGTCTG)
c.783-28_783-27insACTGTCTG (n.783-28_783-27insACTGTCTG)
c.1179-28_1179-27insACTGTCTG (n.1179-28_1179-27insACTGTCTG)
c.210-28_210-27insACTGTCTG (n.210-28_210-27insACTGTCTG)
 dbSNP
20g.63415157_63415158insCTGTCAGACA2737061549KCNQ2c.1248-28_1248-27insACAGTCTG (n.1248-28_1248-27insACAGTCTG)
c.1302-28_1302-27insACAGTCTG (n.1302-28_1302-27insACAGTCTG)
c.699-28_699-27insACAGTCTG (n.699-28_699-27insACAGTCTG)
n.75-64_75-63insACAGTCTG
c.1248-64_1248-63insACAGTCTG (n.1248-64_1248-63insACAGTCTG)
c.906-64_906-63insACAGTCTG (n.906-64_906-63insACAGTCTG)
c.1218-28_1218-27insACAGTCTG (n.1218-28_1218-27insACAGTCTG)
c.1218-64_1218-63insACAGTCTG (n.1218-64_1218-63insACAGTCTG)
c.362-28_362-27insACAGTCTG
c.1272-28_1272-27insACAGTCTG (n.1272-28_1272-27insACAGTCTG)
c.1176-28_1176-27insACAGTCTG (n.1176-28_1176-27insACAGTCTG)
c.783-28_783-27insACAGTCTG (n.783-28_783-27insACAGTCTG)
c.1179-28_1179-27insACAGTCTG (n.1179-28_1179-27insACAGTCTG)
c.210-28_210-27insACAGTCTG (n.210-28_210-27insACAGTCTG)
 dbSNP
20g.63415156_63415157insGCAGAGAGCA2737061599KCNQ2c.1248-29_1248-28insCTCTGCCT (n.1248-29_1248-28insCTCTGCCT)
c.1302-29_1302-28insCTCTGCCT (n.1302-29_1302-28insCTCTGCCT)
c.699-29_699-28insCTCTGCCT (n.699-29_699-28insCTCTGCCT)
n.75-65_75-64insCTCTGCCT
c.1248-65_1248-64insCTCTGCCT (n.1248-65_1248-64insCTCTGCCT)
c.906-65_906-64insCTCTGCCT (n.906-65_906-64insCTCTGCCT)
c.1218-29_1218-28insCTCTGCCT (n.1218-29_1218-28insCTCTGCCT)
c.1218-65_1218-64insCTCTGCCT (n.1218-65_1218-64insCTCTGCCT)
c.362-29_362-28insCTCTGCCT
c.1272-29_1272-28insCTCTGCCT (n.1272-29_1272-28insCTCTGCCT)
c.1176-29_1176-28insCTCTGCCT (n.1176-29_1176-28insCTCTGCCT)
c.783-29_783-28insCTCTGCCT (n.783-29_783-28insCTCTGCCT)
c.1179-29_1179-28insCTCTGCCT (n.1179-29_1179-28insCTCTGCCT)
c.210-29_210-28insCTCTGCCT (n.210-29_210-28insCTCTGCCT)
 dbSNP
20g.63415157_63415158insCAGAGACA9958491KCNQ2c.1248-29_1248-28insCTGTCT (n.1248-29_1248-28insCTGTCT)
c.1302-29_1302-28insCTGTCT (n.1302-29_1302-28insCTGTCT)
c.699-29_699-28insCTGTCT (n.699-29_699-28insCTGTCT)
n.75-65_75-64insCTGTCT
c.1248-65_1248-64insCTGTCT (n.1248-65_1248-64insCTGTCT)
c.906-65_906-64insCTGTCT (n.906-65_906-64insCTGTCT)
c.1218-29_1218-28insCTGTCT (n.1218-29_1218-28insCTGTCT)
c.1218-65_1218-64insCTGTCT (n.1218-65_1218-64insCTGTCT)
c.362-29_362-28insCTGTCT
c.1272-29_1272-28insCTGTCT (n.1272-29_1272-28insCTGTCT)
c.1176-29_1176-28insCTGTCT (n.1176-29_1176-28insCTGTCT)
c.783-29_783-28insCTGTCT (n.783-29_783-28insCTGTCT)
c.1179-29_1179-28insCTGTCT (n.1179-29_1179-28insCTGTCT)
c.210-29_210-28insCTGTCT (n.210-29_210-28insCTGTCT)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63415157_63415158insCAGAAAGACA2736827830KCNQ2c.1248-29_1248-28insTTCTGTCT (n.1248-29_1248-28insTTCTGTCT)
c.1302-29_1302-28insTTCTGTCT (n.1302-29_1302-28insTTCTGTCT)
c.699-29_699-28insTTCTGTCT (n.699-29_699-28insTTCTGTCT)
n.75-65_75-64insTTCTGTCT
c.1248-65_1248-64insTTCTGTCT (n.1248-65_1248-64insTTCTGTCT)
c.906-65_906-64insTTCTGTCT (n.906-65_906-64insTTCTGTCT)
c.1218-29_1218-28insTTCTGTCT (n.1218-29_1218-28insTTCTGTCT)
c.1218-65_1218-64insTTCTGTCT (n.1218-65_1218-64insTTCTGTCT)
c.362-29_362-28insTTCTGTCT
c.1272-29_1272-28insTTCTGTCT (n.1272-29_1272-28insTTCTGTCT)
c.1176-29_1176-28insTTCTGTCT (n.1176-29_1176-28insTTCTGTCT)
c.783-29_783-28insTTCTGTCT (n.783-29_783-28insTTCTGTCT)
c.1179-29_1179-28insTTCTGTCT (n.1179-29_1179-28insTTCTGTCT)
c.210-29_210-28insTTCTGTCT (n.210-29_210-28insTTCTGTCT)
 dbSNP
20g.63415157_63415158insCAGAGAGACA636614203KCNQ2c.1248-29_1248-28insCTCTGTCT (n.1248-29_1248-28insCTCTGTCT)
c.1302-29_1302-28insCTCTGTCT (n.1302-29_1302-28insCTCTGTCT)
c.699-29_699-28insCTCTGTCT (n.699-29_699-28insCTCTGTCT)
n.75-65_75-64insCTCTGTCT
c.1248-65_1248-64insCTCTGTCT (n.1248-65_1248-64insCTCTGTCT)
c.906-65_906-64insCTCTGTCT (n.906-65_906-64insCTCTGTCT)
c.1218-29_1218-28insCTCTGTCT (n.1218-29_1218-28insCTCTGTCT)
c.1218-65_1218-64insCTCTGTCT (n.1218-65_1218-64insCTCTGTCT)
c.362-29_362-28insCTCTGTCT
c.1272-29_1272-28insCTCTGTCT (n.1272-29_1272-28insCTCTGTCT)
c.1176-29_1176-28insCTCTGTCT (n.1176-29_1176-28insCTCTGTCT)
c.783-29_783-28insCTCTGTCT (n.783-29_783-28insCTCTGTCT)
c.1179-29_1179-28insCTCTGTCT (n.1179-29_1179-28insCTCTGTCT)
c.210-29_210-28insCTCTGTCT (n.210-29_210-28insCTCTGTCT)
 dbSNP gnomAD v2 gnomAD v4
20g.63415157_63415158insCAGATAGACA636614204KCNQ2c.1248-29_1248-28insATCTGTCT (n.1248-29_1248-28insATCTGTCT)
c.1302-29_1302-28insATCTGTCT (n.1302-29_1302-28insATCTGTCT)
c.699-29_699-28insATCTGTCT (n.699-29_699-28insATCTGTCT)
n.75-65_75-64insATCTGTCT
c.1248-65_1248-64insATCTGTCT (n.1248-65_1248-64insATCTGTCT)
c.906-65_906-64insATCTGTCT (n.906-65_906-64insATCTGTCT)
c.1218-29_1218-28insATCTGTCT (n.1218-29_1218-28insATCTGTCT)
c.1218-65_1218-64insATCTGTCT (n.1218-65_1218-64insATCTGTCT)
c.362-29_362-28insATCTGTCT
c.1272-29_1272-28insATCTGTCT (n.1272-29_1272-28insATCTGTCT)
c.1176-29_1176-28insATCTGTCT (n.1176-29_1176-28insATCTGTCT)
c.783-29_783-28insATCTGTCT (n.783-29_783-28insATCTGTCT)
c.1179-29_1179-28insATCTGTCT (n.1179-29_1179-28insATCTGTCT)
c.210-29_210-28insATCTGTCT (n.210-29_210-28insATCTGTCT)
 dbSNP gnomAD v2 gnomAD v4
20g.63415157_63415158insCAGCAAGACA2736827828KCNQ2c.1248-29_1248-28insTGCTGTCT (n.1248-29_1248-28insTGCTGTCT)
c.1302-29_1302-28insTGCTGTCT (n.1302-29_1302-28insTGCTGTCT)
c.699-29_699-28insTGCTGTCT (n.699-29_699-28insTGCTGTCT)
n.75-65_75-64insTGCTGTCT
c.1248-65_1248-64insTGCTGTCT (n.1248-65_1248-64insTGCTGTCT)
c.906-65_906-64insTGCTGTCT (n.906-65_906-64insTGCTGTCT)
c.1218-29_1218-28insTGCTGTCT (n.1218-29_1218-28insTGCTGTCT)
c.1218-65_1218-64insTGCTGTCT (n.1218-65_1218-64insTGCTGTCT)
c.362-29_362-28insTGCTGTCT
c.1272-29_1272-28insTGCTGTCT (n.1272-29_1272-28insTGCTGTCT)
c.1176-29_1176-28insTGCTGTCT (n.1176-29_1176-28insTGCTGTCT)
c.783-29_783-28insTGCTGTCT (n.783-29_783-28insTGCTGTCT)
c.1179-29_1179-28insTGCTGTCT (n.1179-29_1179-28insTGCTGTCT)
c.210-29_210-28insTGCTGTCT (n.210-29_210-28insTGCTGTCT)
 dbSNP
20g.63415157_63415158insCAGTGAGACA2736827832KCNQ2c.1248-29_1248-28insCACTGTCT (n.1248-29_1248-28insCACTGTCT)
c.1302-29_1302-28insCACTGTCT (n.1302-29_1302-28insCACTGTCT)
c.699-29_699-28insCACTGTCT (n.699-29_699-28insCACTGTCT)
n.75-65_75-64insCACTGTCT
c.1248-65_1248-64insCACTGTCT (n.1248-65_1248-64insCACTGTCT)
c.906-65_906-64insCACTGTCT (n.906-65_906-64insCACTGTCT)
c.1218-29_1218-28insCACTGTCT (n.1218-29_1218-28insCACTGTCT)
c.1218-65_1218-64insCACTGTCT (n.1218-65_1218-64insCACTGTCT)
c.362-29_362-28insCACTGTCT
c.1272-29_1272-28insCACTGTCT (n.1272-29_1272-28insCACTGTCT)
c.1176-29_1176-28insCACTGTCT (n.1176-29_1176-28insCACTGTCT)
c.783-29_783-28insCACTGTCT (n.783-29_783-28insCACTGTCT)
c.1179-29_1179-28insCACTGTCT (n.1179-29_1179-28insCACTGTCT)
c.210-29_210-28insCACTGTCT (n.210-29_210-28insCACTGTCT)
 dbSNP
20g.63415157_63415158insCGGATAGACA2736827831KCNQ2c.1248-29_1248-28insATCCGTCT (n.1248-29_1248-28insATCCGTCT)
c.1302-29_1302-28insATCCGTCT (n.1302-29_1302-28insATCCGTCT)
c.699-29_699-28insATCCGTCT (n.699-29_699-28insATCCGTCT)
n.75-65_75-64insATCCGTCT
c.1248-65_1248-64insATCCGTCT (n.1248-65_1248-64insATCCGTCT)
c.906-65_906-64insATCCGTCT (n.906-65_906-64insATCCGTCT)
c.1218-29_1218-28insATCCGTCT (n.1218-29_1218-28insATCCGTCT)
c.1218-65_1218-64insATCCGTCT (n.1218-65_1218-64insATCCGTCT)
c.362-29_362-28insATCCGTCT
c.1272-29_1272-28insATCCGTCT (n.1272-29_1272-28insATCCGTCT)
c.1176-29_1176-28insATCCGTCT (n.1176-29_1176-28insATCCGTCT)
c.783-29_783-28insATCCGTCT (n.783-29_783-28insATCCGTCT)
c.1179-29_1179-28insATCCGTCT (n.1179-29_1179-28insATCCGTCT)
c.210-29_210-28insATCCGTCT (n.210-29_210-28insATCCGTCT)
 dbSNP
20g.63415157_63415158insGAGAAAGACA2736827829KCNQ2c.1248-29_1248-28insTTCTCTCT (n.1248-29_1248-28insTTCTCTCT)
c.1302-29_1302-28insTTCTCTCT (n.1302-29_1302-28insTTCTCTCT)
c.699-29_699-28insTTCTCTCT (n.699-29_699-28insTTCTCTCT)
n.75-65_75-64insTTCTCTCT
c.1248-65_1248-64insTTCTCTCT (n.1248-65_1248-64insTTCTCTCT)
c.906-65_906-64insTTCTCTCT (n.906-65_906-64insTTCTCTCT)
c.1218-29_1218-28insTTCTCTCT (n.1218-29_1218-28insTTCTCTCT)
c.1218-65_1218-64insTTCTCTCT (n.1218-65_1218-64insTTCTCTCT)
c.362-29_362-28insTTCTCTCT
c.1272-29_1272-28insTTCTCTCT (n.1272-29_1272-28insTTCTCTCT)
c.1176-29_1176-28insTTCTCTCT (n.1176-29_1176-28insTTCTCTCT)
c.783-29_783-28insTTCTCTCT (n.783-29_783-28insTTCTCTCT)
c.1179-29_1179-28insTTCTCTCT (n.1179-29_1179-28insTTCTCTCT)
c.210-29_210-28insTTCTCTCT (n.210-29_210-28insTTCTCTCT)
 dbSNP
20g.63415157_63415158insCTGACA2653800924KCNQ2c.1248-30_1248-29insAGTC (n.1248-30_1248-29insAGTC)
c.1302-30_1302-29insAGTC (n.1302-30_1302-29insAGTC)
c.699-30_699-29insAGTC (n.699-30_699-29insAGTC)
n.75-66_75-65insAGTC
c.1248-66_1248-65insAGTC (n.1248-66_1248-65insAGTC)
c.906-66_906-65insAGTC (n.906-66_906-65insAGTC)
c.1218-30_1218-29insAGTC (n.1218-30_1218-29insAGTC)
c.1218-66_1218-65insAGTC (n.1218-66_1218-65insAGTC)
c.362-30_362-29insAGTC
c.1272-30_1272-29insAGTC (n.1272-30_1272-29insAGTC)
c.1176-30_1176-29insAGTC (n.1176-30_1176-29insAGTC)
c.783-30_783-29insAGTC (n.783-30_783-29insAGTC)
c.1179-30_1179-29insAGTC (n.1179-30_1179-29insAGTC)
c.210-30_210-29insAGTC (n.210-30_210-29insAGTC)
 gnomAD v4
20g.63415157_63415158insCAGACCGACA2737061658KCNQ2c.1248-30_1248-29insGGTCTGTC (n.1248-30_1248-29insGGTCTGTC)
c.1302-30_1302-29insGGTCTGTC (n.1302-30_1302-29insGGTCTGTC)
c.699-30_699-29insGGTCTGTC (n.699-30_699-29insGGTCTGTC)
n.75-66_75-65insGGTCTGTC
c.1248-66_1248-65insGGTCTGTC (n.1248-66_1248-65insGGTCTGTC)
c.906-66_906-65insGGTCTGTC (n.906-66_906-65insGGTCTGTC)
c.1218-30_1218-29insGGTCTGTC (n.1218-30_1218-29insGGTCTGTC)
c.1218-66_1218-65insGGTCTGTC (n.1218-66_1218-65insGGTCTGTC)
c.362-30_362-29insGGTCTGTC
c.1272-30_1272-29insGGTCTGTC (n.1272-30_1272-29insGGTCTGTC)
c.1176-30_1176-29insGGTCTGTC (n.1176-30_1176-29insGGTCTGTC)
c.783-30_783-29insGGTCTGTC (n.783-30_783-29insGGTCTGTC)
c.1179-30_1179-29insGGTCTGTC (n.1179-30_1179-29insGGTCTGTC)
c.210-30_210-29insGGTCTGTC (n.210-30_210-29insGGTCTGTC)
 dbSNP
20g.63415157_63415158insCAGACGGACA2737061657KCNQ2c.1248-30_1248-29insCGTCTGTC (n.1248-30_1248-29insCGTCTGTC)
c.1302-30_1302-29insCGTCTGTC (n.1302-30_1302-29insCGTCTGTC)
c.699-30_699-29insCGTCTGTC (n.699-30_699-29insCGTCTGTC)
n.75-66_75-65insCGTCTGTC
c.1248-66_1248-65insCGTCTGTC (n.1248-66_1248-65insCGTCTGTC)
c.906-66_906-65insCGTCTGTC (n.906-66_906-65insCGTCTGTC)
c.1218-30_1218-29insCGTCTGTC (n.1218-30_1218-29insCGTCTGTC)
c.1218-66_1218-65insCGTCTGTC (n.1218-66_1218-65insCGTCTGTC)
c.362-30_362-29insCGTCTGTC
c.1272-30_1272-29insCGTCTGTC (n.1272-30_1272-29insCGTCTGTC)
c.1176-30_1176-29insCGTCTGTC (n.1176-30_1176-29insCGTCTGTC)
c.783-30_783-29insCGTCTGTC (n.783-30_783-29insCGTCTGTC)
c.1179-30_1179-29insCGTCTGTC (n.1179-30_1179-29insCGTCTGTC)
c.210-30_210-29insCGTCTGTC (n.210-30_210-29insCGTCTGTC)
 dbSNP
20g.63415157_63415158insCAGACTGACA2737061640KCNQ2c.1248-30_1248-29insAGTCTGTC (n.1248-30_1248-29insAGTCTGTC)
c.1302-30_1302-29insAGTCTGTC (n.1302-30_1302-29insAGTCTGTC)
c.699-30_699-29insAGTCTGTC (n.699-30_699-29insAGTCTGTC)
n.75-66_75-65insAGTCTGTC
c.1248-66_1248-65insAGTCTGTC (n.1248-66_1248-65insAGTCTGTC)
c.906-66_906-65insAGTCTGTC (n.906-66_906-65insAGTCTGTC)
c.1218-30_1218-29insAGTCTGTC (n.1218-30_1218-29insAGTCTGTC)
c.1218-66_1218-65insAGTCTGTC (n.1218-66_1218-65insAGTCTGTC)
c.362-30_362-29insAGTCTGTC
c.1272-30_1272-29insAGTCTGTC (n.1272-30_1272-29insAGTCTGTC)
c.1176-30_1176-29insAGTCTGTC (n.1176-30_1176-29insAGTCTGTC)
c.783-30_783-29insAGTCTGTC (n.783-30_783-29insAGTCTGTC)
c.1179-30_1179-29insAGTCTGTC (n.1179-30_1179-29insAGTCTGTC)
c.210-30_210-29insAGTCTGTC (n.210-30_210-29insAGTCTGTC)
 dbSNP
20g.63415157_63415158insCTGACGGACA2737061608KCNQ2c.1248-30_1248-29insCGTCAGTC (n.1248-30_1248-29insCGTCAGTC)
c.1302-30_1302-29insCGTCAGTC (n.1302-30_1302-29insCGTCAGTC)
c.699-30_699-29insCGTCAGTC (n.699-30_699-29insCGTCAGTC)
n.75-66_75-65insCGTCAGTC
c.1248-66_1248-65insCGTCAGTC (n.1248-66_1248-65insCGTCAGTC)
c.906-66_906-65insCGTCAGTC (n.906-66_906-65insCGTCAGTC)
c.1218-30_1218-29insCGTCAGTC (n.1218-30_1218-29insCGTCAGTC)
c.1218-66_1218-65insCGTCAGTC (n.1218-66_1218-65insCGTCAGTC)
c.362-30_362-29insCGTCAGTC
c.1272-30_1272-29insCGTCAGTC (n.1272-30_1272-29insCGTCAGTC)
c.1176-30_1176-29insCGTCAGTC (n.1176-30_1176-29insCGTCAGTC)
c.783-30_783-29insCGTCAGTC (n.783-30_783-29insCGTCAGTC)
c.1179-30_1179-29insCGTCAGTC (n.1179-30_1179-29insCGTCAGTC)
c.210-30_210-29insCGTCAGTC (n.210-30_210-29insCGTCAGTC)
 dbSNP
20g.63415156_63415160delinsGAAAACA2374778889KCNQ2c.1248-34_1248-30delinsTTTTC (n.1248-34_1248-30delinsTTTTC)
c.1302-34_1302-30delinsTTTTC (n.1302-34_1302-30delinsTTTTC)
c.699-34_699-30delinsTTTTC (n.699-34_699-30delinsTTTTC)
n.75-70_75-66delinsTTTTC
c.1248-70_1248-66delinsTTTTC (n.1248-70_1248-66delinsTTTTC)
c.906-70_906-66delinsTTTTC (n.906-70_906-66delinsTTTTC)
c.1218-34_1218-30delinsTTTTC (n.1218-34_1218-30delinsTTTTC)
c.1218-70_1218-66delinsTTTTC (n.1218-70_1218-66delinsTTTTC)
c.362-34_362-30delinsTTTTC
c.1272-34_1272-30delinsTTTTC (n.1272-34_1272-30delinsTTTTC)
c.1176-34_1176-30delinsTTTTC (n.1176-34_1176-30delinsTTTTC)
c.783-34_783-30delinsTTTTC (n.783-34_783-30delinsTTTTC)
c.1179-34_1179-30delinsTTTTC (n.1179-34_1179-30delinsTTTTC)
c.210-34_210-30delinsTTTTC (n.210-34_210-30delinsTTTTC)
20g.63415157A=CA2374778890KCNQ2c.1248-31T= (n.1248-31T=)
c.1302-31T= (n.1302-31T=)
c.699-31T= (n.699-31T=)
n.75-67T=
c.1248-67T= (n.1248-67T=)
c.906-67T= (n.906-67T=)
c.1218-31T= (n.1218-31T=)
c.1218-67T= (n.1218-67T=)
c.362-31T=
c.1272-31T= (n.1272-31T=)
c.1176-31T= (n.1176-31T=)
c.783-31T= (n.783-31T=)
c.1179-31T= (n.1179-31T=)
c.210-31T= (n.210-31T=)
20g.63415157_63415158insCAGAACA2653800931KCNQ2c.1248-31_1248-30insTCTGT (n.1248-31_1248-30insTCTGT)
c.1302-31_1302-30insTCTGT (n.1302-31_1302-30insTCTGT)
c.699-31_699-30insTCTGT (n.699-31_699-30insTCTGT)
n.75-67_75-66insTCTGT
c.1248-67_1248-66insTCTGT (n.1248-67_1248-66insTCTGT)
c.906-67_906-66insTCTGT (n.906-67_906-66insTCTGT)
c.1218-31_1218-30insTCTGT (n.1218-31_1218-30insTCTGT)
c.1218-67_1218-66insTCTGT (n.1218-67_1218-66insTCTGT)
c.362-31_362-30insTCTGT
c.1272-31_1272-30insTCTGT (n.1272-31_1272-30insTCTGT)
c.1176-31_1176-30insTCTGT (n.1176-31_1176-30insTCTGT)
c.783-31_783-30insTCTGT (n.783-31_783-30insTCTGT)
c.1179-31_1179-30insTCTGT (n.1179-31_1179-30insTCTGT)
c.210-31_210-30insTCTGT (n.210-31_210-30insTCTGT)
 gnomAD v4
20g.63415157_63415158insCAGACACA2653800929KCNQ2c.1248-31_1248-30insGTCTGT (n.1248-31_1248-30insGTCTGT)
c.1302-31_1302-30insGTCTGT (n.1302-31_1302-30insGTCTGT)
c.699-31_699-30insGTCTGT (n.699-31_699-30insGTCTGT)
n.75-67_75-66insGTCTGT
c.1248-67_1248-66insGTCTGT (n.1248-67_1248-66insGTCTGT)
c.906-67_906-66insGTCTGT (n.906-67_906-66insGTCTGT)
c.1218-31_1218-30insGTCTGT (n.1218-31_1218-30insGTCTGT)
c.1218-67_1218-66insGTCTGT (n.1218-67_1218-66insGTCTGT)
c.362-31_362-30insGTCTGT
c.1272-31_1272-30insGTCTGT (n.1272-31_1272-30insGTCTGT)
c.1176-31_1176-30insGTCTGT (n.1176-31_1176-30insGTCTGT)
c.783-31_783-30insGTCTGT (n.783-31_783-30insGTCTGT)
c.1179-31_1179-30insGTCTGT (n.1179-31_1179-30insGTCTGT)
c.210-31_210-30insGTCTGT (n.210-31_210-30insGTCTGT)
 gnomAD v4
20g.63415157_63415158insCAGACAAACA2737061696KCNQ2c.1248-31_1248-30insTTGTCTGT (n.1248-31_1248-30insTTGTCTGT)
c.1302-31_1302-30insTTGTCTGT (n.1302-31_1302-30insTTGTCTGT)
c.699-31_699-30insTTGTCTGT (n.699-31_699-30insTTGTCTGT)
n.75-67_75-66insTTGTCTGT
c.1248-67_1248-66insTTGTCTGT (n.1248-67_1248-66insTTGTCTGT)
c.906-67_906-66insTTGTCTGT (n.906-67_906-66insTTGTCTGT)
c.1218-31_1218-30insTTGTCTGT (n.1218-31_1218-30insTTGTCTGT)
c.1218-67_1218-66insTTGTCTGT (n.1218-67_1218-66insTTGTCTGT)
c.362-31_362-30insTTGTCTGT
c.1272-31_1272-30insTTGTCTGT (n.1272-31_1272-30insTTGTCTGT)
c.1176-31_1176-30insTTGTCTGT (n.1176-31_1176-30insTTGTCTGT)
c.783-31_783-30insTTGTCTGT (n.783-31_783-30insTTGTCTGT)
c.1179-31_1179-30insTTGTCTGT (n.1179-31_1179-30insTTGTCTGT)
c.210-31_210-30insTTGTCTGT (n.210-31_210-30insTTGTCTGT)
 dbSNP
20g.63415157_63415158insCAGACACACA2737061707KCNQ2c.1248-31_1248-30insGTGTCTGT (n.1248-31_1248-30insGTGTCTGT)
c.1302-31_1302-30insGTGTCTGT (n.1302-31_1302-30insGTGTCTGT)
c.699-31_699-30insGTGTCTGT (n.699-31_699-30insGTGTCTGT)
n.75-67_75-66insGTGTCTGT
c.1248-67_1248-66insGTGTCTGT (n.1248-67_1248-66insGTGTCTGT)
c.906-67_906-66insGTGTCTGT (n.906-67_906-66insGTGTCTGT)
c.1218-31_1218-30insGTGTCTGT (n.1218-31_1218-30insGTGTCTGT)
c.1218-67_1218-66insGTGTCTGT (n.1218-67_1218-66insGTGTCTGT)
c.362-31_362-30insGTGTCTGT
c.1272-31_1272-30insGTGTCTGT (n.1272-31_1272-30insGTGTCTGT)
c.1176-31_1176-30insGTGTCTGT (n.1176-31_1176-30insGTGTCTGT)
c.783-31_783-30insGTGTCTGT (n.783-31_783-30insGTGTCTGT)
c.1179-31_1179-30insGTGTCTGT (n.1179-31_1179-30insGTGTCTGT)
c.210-31_210-30insGTGTCTGT (n.210-31_210-30insGTGTCTGT)
 dbSNP
20g.63415157_63415158insCAGACATACA2653800927KCNQ2c.1248-31_1248-30insATGTCTGT (n.1248-31_1248-30insATGTCTGT)
c.1302-31_1302-30insATGTCTGT (n.1302-31_1302-30insATGTCTGT)
c.699-31_699-30insATGTCTGT (n.699-31_699-30insATGTCTGT)
n.75-67_75-66insATGTCTGT
c.1248-67_1248-66insATGTCTGT (n.1248-67_1248-66insATGTCTGT)
c.906-67_906-66insATGTCTGT (n.906-67_906-66insATGTCTGT)
c.1218-31_1218-30insATGTCTGT (n.1218-31_1218-30insATGTCTGT)
c.1218-67_1218-66insATGTCTGT (n.1218-67_1218-66insATGTCTGT)
c.362-31_362-30insATGTCTGT
c.1272-31_1272-30insATGTCTGT (n.1272-31_1272-30insATGTCTGT)
c.1176-31_1176-30insATGTCTGT (n.1176-31_1176-30insATGTCTGT)
c.783-31_783-30insATGTCTGT (n.783-31_783-30insATGTCTGT)
c.1179-31_1179-30insATGTCTGT (n.1179-31_1179-30insATGTCTGT)
c.210-31_210-30insATGTCTGT (n.210-31_210-30insATGTCTGT)
 dbSNP gnomAD v4
20g.63415157_63415158insCAGACAGAACA2653800932KCNQ2c.1248-31_1248-30insTCTGTCTGT (n.1248-31_1248-30insTCTGTCTGT)
c.1302-31_1302-30insTCTGTCTGT (n.1302-31_1302-30insTCTGTCTGT)
c.699-31_699-30insTCTGTCTGT (n.699-31_699-30insTCTGTCTGT)
n.75-67_75-66insTCTGTCTGT
c.1248-67_1248-66insTCTGTCTGT (n.1248-67_1248-66insTCTGTCTGT)
c.906-67_906-66insTCTGTCTGT (n.906-67_906-66insTCTGTCTGT)
c.1218-31_1218-30insTCTGTCTGT (n.1218-31_1218-30insTCTGTCTGT)
c.1218-67_1218-66insTCTGTCTGT (n.1218-67_1218-66insTCTGTCTGT)
c.362-31_362-30insTCTGTCTGT
c.1272-31_1272-30insTCTGTCTGT (n.1272-31_1272-30insTCTGTCTGT)
c.1176-31_1176-30insTCTGTCTGT (n.1176-31_1176-30insTCTGTCTGT)
c.783-31_783-30insTCTGTCTGT (n.783-31_783-30insTCTGTCTGT)
c.1179-31_1179-30insTCTGTCTGT (n.1179-31_1179-30insTCTGTCTGT)
c.210-31_210-30insTCTGTCTGT (n.210-31_210-30insTCTGTCTGT)
 gnomAD v4
20g.63415158_63415161delCA9958492KCNQ2c.1248-34_1248-31del (n.1248-34_1248-31del)
c.1302-34_1302-31del (n.1302-34_1302-31del)
c.699-34_699-31del (n.699-34_699-31del)
n.75-70_75-67del
c.1248-70_1248-67del (n.1248-70_1248-67del)
c.906-70_906-67del (n.906-70_906-67del)
c.1218-34_1218-31del (n.1218-34_1218-31del)
c.1218-70_1218-67del (n.1218-70_1218-67del)
c.362-34_362-31del
c.1272-34_1272-31del (n.1272-34_1272-31del)
c.1176-34_1176-31del (n.1176-34_1176-31del)
c.783-34_783-31del (n.783-34_783-31del)
c.1179-34_1179-31del (n.1179-34_1179-31del)
c.210-34_210-31del (n.210-34_210-31del)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63415157_63415158insCCA2595908027KCNQ2c.1248-32_1248-31insG (n.1248-32_1248-31insG)
c.1302-32_1302-31insG (n.1302-32_1302-31insG)
c.699-32_699-31insG (n.699-32_699-31insG)
n.75-68_75-67insG
c.1248-68_1248-67insG (n.1248-68_1248-67insG)
c.906-68_906-67insG (n.906-68_906-67insG)
c.1218-32_1218-31insG (n.1218-32_1218-31insG)
c.1218-68_1218-67insG (n.1218-68_1218-67insG)
c.362-32_362-31insG
c.1272-32_1272-31insG (n.1272-32_1272-31insG)
c.1176-32_1176-31insG (n.1176-32_1176-31insG)
c.783-32_783-31insG (n.783-32_783-31insG)
c.1179-32_1179-31insG (n.1179-32_1179-31insG)
c.210-32_210-31insG (n.210-32_210-31insG)
 gnomAD v3 gnomAD v4
20g.63415157_63415158insCAGCA2653800937KCNQ2c.1248-32_1248-31insCTG (n.1248-32_1248-31insCTG)
c.1302-32_1302-31insCTG (n.1302-32_1302-31insCTG)
c.699-32_699-31insCTG (n.699-32_699-31insCTG)
n.75-68_75-67insCTG
c.1248-68_1248-67insCTG (n.1248-68_1248-67insCTG)
c.906-68_906-67insCTG (n.906-68_906-67insCTG)
c.1218-32_1218-31insCTG (n.1218-32_1218-31insCTG)
c.1218-68_1218-67insCTG (n.1218-68_1218-67insCTG)
c.362-32_362-31insCTG
c.1272-32_1272-31insCTG (n.1272-32_1272-31insCTG)
c.1176-32_1176-31insCTG (n.1176-32_1176-31insCTG)
c.783-32_783-31insCTG (n.783-32_783-31insCTG)
c.1179-32_1179-31insCTG (n.1179-32_1179-31insCTG)
c.210-32_210-31insCTG (n.210-32_210-31insCTG)
 gnomAD v4
20g.63415157_63415158insCAGACAGCA511339681KCNQ2c.1248-32_1248-31insCTGTCTG (n.1248-32_1248-31insCTGTCTG)
c.1302-32_1302-31insCTGTCTG (n.1302-32_1302-31insCTGTCTG)
c.699-32_699-31insCTGTCTG (n.699-32_699-31insCTGTCTG)
n.75-68_75-67insCTGTCTG
c.1248-68_1248-67insCTGTCTG (n.1248-68_1248-67insCTGTCTG)
c.906-68_906-67insCTGTCTG (n.906-68_906-67insCTGTCTG)
c.1218-32_1218-31insCTGTCTG (n.1218-32_1218-31insCTGTCTG)
c.1218-68_1218-67insCTGTCTG (n.1218-68_1218-67insCTGTCTG)
c.362-32_362-31insCTGTCTG
c.1272-32_1272-31insCTGTCTG (n.1272-32_1272-31insCTGTCTG)
c.1176-32_1176-31insCTGTCTG (n.1176-32_1176-31insCTGTCTG)
c.783-32_783-31insCTGTCTG (n.783-32_783-31insCTGTCTG)
c.1179-32_1179-31insCTGTCTG (n.1179-32_1179-31insCTGTCTG)
c.210-32_210-31insCTGTCTG (n.210-32_210-31insCTGTCTG)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63415157_63415158insCAGACAACCA2736821200KCNQ2c.1248-32_1248-31insGTTGTCTG (n.1248-32_1248-31insGTTGTCTG)
c.1302-32_1302-31insGTTGTCTG (n.1302-32_1302-31insGTTGTCTG)
c.699-32_699-31insGTTGTCTG (n.699-32_699-31insGTTGTCTG)
n.75-68_75-67insGTTGTCTG
c.1248-68_1248-67insGTTGTCTG (n.1248-68_1248-67insGTTGTCTG)
c.906-68_906-67insGTTGTCTG (n.906-68_906-67insGTTGTCTG)
c.1218-32_1218-31insGTTGTCTG (n.1218-32_1218-31insGTTGTCTG)
c.1218-68_1218-67insGTTGTCTG (n.1218-68_1218-67insGTTGTCTG)
c.362-32_362-31insGTTGTCTG
c.1272-32_1272-31insGTTGTCTG (n.1272-32_1272-31insGTTGTCTG)
c.1176-32_1176-31insGTTGTCTG (n.1176-32_1176-31insGTTGTCTG)
c.783-32_783-31insGTTGTCTG (n.783-32_783-31insGTTGTCTG)
c.1179-32_1179-31insGTTGTCTG (n.1179-32_1179-31insGTTGTCTG)
c.210-32_210-31insGTTGTCTG (n.210-32_210-31insGTTGTCTG)
 dbSNP
20g.63415157_63415158insCAGACAGCCA2736821199KCNQ2c.1248-32_1248-31insGCTGTCTG (n.1248-32_1248-31insGCTGTCTG)
c.1302-32_1302-31insGCTGTCTG (n.1302-32_1302-31insGCTGTCTG)
c.699-32_699-31insGCTGTCTG (n.699-32_699-31insGCTGTCTG)
n.75-68_75-67insGCTGTCTG
c.1248-68_1248-67insGCTGTCTG (n.1248-68_1248-67insGCTGTCTG)
c.906-68_906-67insGCTGTCTG (n.906-68_906-67insGCTGTCTG)
c.1218-32_1218-31insGCTGTCTG (n.1218-32_1218-31insGCTGTCTG)
c.1218-68_1218-67insGCTGTCTG (n.1218-68_1218-67insGCTGTCTG)
c.362-32_362-31insGCTGTCTG
c.1272-32_1272-31insGCTGTCTG (n.1272-32_1272-31insGCTGTCTG)
c.1176-32_1176-31insGCTGTCTG (n.1176-32_1176-31insGCTGTCTG)
c.783-32_783-31insGCTGTCTG (n.783-32_783-31insGCTGTCTG)
c.1179-32_1179-31insGCTGTCTG (n.1179-32_1179-31insGCTGTCTG)
c.210-32_210-31insGCTGTCTG (n.210-32_210-31insGCTGTCTG)
 dbSNP
20g.63415157_63415158insCAGACAGGCA2736821198KCNQ2c.1248-32_1248-31insCCTGTCTG (n.1248-32_1248-31insCCTGTCTG)
c.1302-32_1302-31insCCTGTCTG (n.1302-32_1302-31insCCTGTCTG)
c.699-32_699-31insCCTGTCTG (n.699-32_699-31insCCTGTCTG)
n.75-68_75-67insCCTGTCTG
c.1248-68_1248-67insCCTGTCTG (n.1248-68_1248-67insCCTGTCTG)
c.906-68_906-67insCCTGTCTG (n.906-68_906-67insCCTGTCTG)
c.1218-32_1218-31insCCTGTCTG (n.1218-32_1218-31insCCTGTCTG)
c.1218-68_1218-67insCCTGTCTG (n.1218-68_1218-67insCCTGTCTG)
c.362-32_362-31insCCTGTCTG
c.1272-32_1272-31insCCTGTCTG (n.1272-32_1272-31insCCTGTCTG)
c.1176-32_1176-31insCCTGTCTG (n.1176-32_1176-31insCCTGTCTG)
c.783-32_783-31insCCTGTCTG (n.783-32_783-31insCCTGTCTG)
c.1179-32_1179-31insCCTGTCTG (n.1179-32_1179-31insCCTGTCTG)
c.210-32_210-31insCCTGTCTG (n.210-32_210-31insCCTGTCTG)
 dbSNP
20g.63415157_63415158insCAGACAGTCA2736821197KCNQ2c.1248-32_1248-31insACTGTCTG (n.1248-32_1248-31insACTGTCTG)
c.1302-32_1302-31insACTGTCTG (n.1302-32_1302-31insACTGTCTG)
c.699-32_699-31insACTGTCTG (n.699-32_699-31insACTGTCTG)
n.75-68_75-67insACTGTCTG
c.1248-68_1248-67insACTGTCTG (n.1248-68_1248-67insACTGTCTG)
c.906-68_906-67insACTGTCTG (n.906-68_906-67insACTGTCTG)
c.1218-32_1218-31insACTGTCTG (n.1218-32_1218-31insACTGTCTG)
c.1218-68_1218-67insACTGTCTG (n.1218-68_1218-67insACTGTCTG)
c.362-32_362-31insACTGTCTG
c.1272-32_1272-31insACTGTCTG (n.1272-32_1272-31insACTGTCTG)
c.1176-32_1176-31insACTGTCTG (n.1176-32_1176-31insACTGTCTG)
c.783-32_783-31insACTGTCTG (n.783-32_783-31insACTGTCTG)
c.1179-32_1179-31insACTGTCTG (n.1179-32_1179-31insACTGTCTG)
c.210-32_210-31insACTGTCTG (n.210-32_210-31insACTGTCTG)
 dbSNP
20g.63415157_63415158insCAGACGGCCA2736821195KCNQ2c.1248-32_1248-31insGCCGTCTG (n.1248-32_1248-31insGCCGTCTG)
c.1302-32_1302-31insGCCGTCTG (n.1302-32_1302-31insGCCGTCTG)
c.699-32_699-31insGCCGTCTG (n.699-32_699-31insGCCGTCTG)
n.75-68_75-67insGCCGTCTG
c.1248-68_1248-67insGCCGTCTG (n.1248-68_1248-67insGCCGTCTG)
c.906-68_906-67insGCCGTCTG (n.906-68_906-67insGCCGTCTG)
c.1218-32_1218-31insGCCGTCTG (n.1218-32_1218-31insGCCGTCTG)
c.1218-68_1218-67insGCCGTCTG (n.1218-68_1218-67insGCCGTCTG)
c.362-32_362-31insGCCGTCTG
c.1272-32_1272-31insGCCGTCTG (n.1272-32_1272-31insGCCGTCTG)
c.1176-32_1176-31insGCCGTCTG (n.1176-32_1176-31insGCCGTCTG)
c.783-32_783-31insGCCGTCTG (n.783-32_783-31insGCCGTCTG)
c.1179-32_1179-31insGCCGTCTG (n.1179-32_1179-31insGCCGTCTG)
c.210-32_210-31insGCCGTCTG (n.210-32_210-31insGCCGTCTG)
 dbSNP
20g.63415157_63415158insCCGACAGCCA2736821196KCNQ2c.1248-32_1248-31insGCTGTCGG (n.1248-32_1248-31insGCTGTCGG)
c.1302-32_1302-31insGCTGTCGG (n.1302-32_1302-31insGCTGTCGG)
c.699-32_699-31insGCTGTCGG (n.699-32_699-31insGCTGTCGG)
n.75-68_75-67insGCTGTCGG
c.1248-68_1248-67insGCTGTCGG (n.1248-68_1248-67insGCTGTCGG)
c.906-68_906-67insGCTGTCGG (n.906-68_906-67insGCTGTCGG)
c.1218-32_1218-31insGCTGTCGG (n.1218-32_1218-31insGCTGTCGG)
c.1218-68_1218-67insGCTGTCGG (n.1218-68_1218-67insGCTGTCGG)
c.362-32_362-31insGCTGTCGG
c.1272-32_1272-31insGCTGTCGG (n.1272-32_1272-31insGCTGTCGG)
c.1176-32_1176-31insGCTGTCGG (n.1176-32_1176-31insGCTGTCGG)
c.783-32_783-31insGCTGTCGG (n.783-32_783-31insGCTGTCGG)
c.1179-32_1179-31insGCTGTCGG (n.1179-32_1179-31insGCTGTCGG)
c.210-32_210-31insGCTGTCGG (n.210-32_210-31insGCTGTCGG)
 dbSNP
20g.63415157_63415158insCAGACAGACAGCA2653800938KCNQ2c.1248-32_1248-31insCTGTCTGTCTG (n.1248-32_1248-31insCTGTCTGTCTG)
c.1302-32_1302-31insCTGTCTGTCTG (n.1302-32_1302-31insCTGTCTGTCTG)
c.699-32_699-31insCTGTCTGTCTG (n.699-32_699-31insCTGTCTGTCTG)
n.75-68_75-67insCTGTCTGTCTG
c.1248-68_1248-67insCTGTCTGTCTG (n.1248-68_1248-67insCTGTCTGTCTG)
c.906-68_906-67insCTGTCTGTCTG (n.906-68_906-67insCTGTCTGTCTG)
c.1218-32_1218-31insCTGTCTGTCTG (n.1218-32_1218-31insCTGTCTGTCTG)
c.1218-68_1218-67insCTGTCTGTCTG (n.1218-68_1218-67insCTGTCTGTCTG)
c.362-32_362-31insCTGTCTGTCTG
c.1272-32_1272-31insCTGTCTGTCTG (n.1272-32_1272-31insCTGTCTGTCTG)
c.1176-32_1176-31insCTGTCTGTCTG (n.1176-32_1176-31insCTGTCTGTCTG)
c.783-32_783-31insCTGTCTGTCTG (n.783-32_783-31insCTGTCTGTCTG)
c.1179-32_1179-31insCTGTCTGTCTG (n.1179-32_1179-31insCTGTCTGTCTG)
c.210-32_210-31insCTGTCTGTCTG (n.210-32_210-31insCTGTCTGTCTG)
 gnomAD v4
20g.63415158A=CA2374778891KCNQ2c.1248-32T= (n.1248-32T=)
c.1302-32T= (n.1302-32T=)
c.699-32T= (n.699-32T=)
n.75-68T=
c.1248-68T= (n.1248-68T=)
c.906-68T= (n.906-68T=)
c.1218-32T= (n.1218-32T=)
c.1218-68T= (n.1218-68T=)
c.362-32T=
c.1272-32T= (n.1272-32T=)
c.1176-32T= (n.1176-32T=)
c.783-32T= (n.783-32T=)
c.1179-32T= (n.1179-32T=)
c.210-32T= (n.210-32T=)
20g.63415158A>CCA9958493KCNQ2c.1248-32T>G (n.1248-32T>G)
c.1302-32T>G (n.1302-32T>G)
c.699-32T>G (n.699-32T>G)
n.75-68T>G
c.1248-68T>G (n.1248-68T>G)
c.906-68T>G (n.906-68T>G)
c.1218-32T>G (n.1218-32T>G)
c.1218-68T>G (n.1218-68T>G)
c.362-32T>G
c.1272-32T>G (n.1272-32T>G)
c.1176-32T>G (n.1176-32T>G)
c.783-32T>G (n.783-32T>G)
c.1179-32T>G (n.1179-32T>G)
c.210-32T>G (n.210-32T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched