Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63414917_63415288delinsT | CA2739277255 | KCNQ2 | c.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 |
20 | g.63415038_63415040delinsTCA | CA2374778821 | KCNQ2 | c.1334_1336delinsTGA (p.Val445=) c.1388_1390delinsTGA (p.Val463=) c.785_787delinsTGA (p.Val262=) c.1298_1300delinsTGA (p.Val433=) c.956_958delinsTGA (p.Val319=) c.1304_1306delinsTGA (p.Val435=) c.1268_1270delinsTGA (p.Val423=) c.448_450delinsTGA c.1358_1360delinsTGA (p.Val453=) c.1262_1264delinsTGA (p.Val421=) c.869_871delinsTGA (p.Val290=) c.1265_1267delinsTGA (p.Val422=) c.296_298delinsTGA (p.Val99=) | |
20 | g.63415041_63415042del | CA10583878 | KCNQ2 | c.1334_1335del (p.Val445GlufsTer?) c.1388_1389del (p.Val463GlufsTer?) c.785_786del (p.Val262GlufsTer?) c.1298_1299del (p.Val433GlufsTer?) c.956_957del (p.Val319GlufsTer?) c.1304_1305del (p.Val435GlufsTer?) c.1268_1269del (p.Val423GlufsTer?) c.448_449del c.1358_1359del (p.Val453GlufsTer?) c.1262_1263del (p.Val421GlufsTer?) c.869_870del (p.Val290GlufsTer?) c.1265_1266del (p.Val422GlufsTer?) c.296_297del (p.Val99GlufsTer?) | ClinVar dbSNP |
20 | g.63415040A>C | CA409646689 | KCNQ2 | c.1334T>G (p.Val445Gly) c.1388T>G (p.Val463Gly) c.785T>G (p.Val262Gly) c.1298T>G (p.Val433Gly) c.956T>G (p.Val319Gly) c.1304T>G (p.Val435Gly) c.1268T>G (p.Val423Gly) c.448T>G c.1358T>G (p.Val453Gly) c.1262T>G (p.Val421Gly) c.869T>G (p.Val290Gly) c.1265T>G (p.Val422Gly) c.296T>G (p.Val99Gly) | |
20 | g.63415040A>G | CA409646690 | KCNQ2 | c.1334T>C (p.Val445Ala) c.1388T>C (p.Val463Ala) c.785T>C (p.Val262Ala) c.1298T>C (p.Val433Ala) c.956T>C (p.Val319Ala) c.1304T>C (p.Val435Ala) c.1268T>C (p.Val423Ala) c.448T>C c.1358T>C (p.Val453Ala) c.1262T>C (p.Val421Ala) c.869T>C (p.Val290Ala) c.1265T>C (p.Val422Ala) c.296T>C (p.Val99Ala) | gnomAD v4 |
20 | g.63415040A>T | CA409646691 | KCNQ2 | c.1334T>A (p.Val445Glu) c.1388T>A (p.Val463Glu) c.785T>A (p.Val262Glu) c.1298T>A (p.Val433Glu) c.956T>A (p.Val319Glu) c.1304T>A (p.Val435Glu) c.1268T>A (p.Val423Glu) c.448T>A c.1358T>A (p.Val453Glu) c.1262T>A (p.Val421Glu) c.869T>A (p.Val290Glu) c.1265T>A (p.Val422Glu) c.296T>A (p.Val99Glu) | |
20 | g.63415041C>A | CA409646692 | KCNQ2 | c.1333G>T (p.Val445Leu) c.1387G>T (p.Val463Leu) c.784G>T (p.Val262Leu) c.1297G>T (p.Val433Leu) c.955G>T (p.Val319Leu) c.1303G>T (p.Val435Leu) c.1267G>T (p.Val423Leu) c.447G>T c.1357G>T (p.Val453Leu) c.1261G>T (p.Val421Leu) c.868G>T (p.Val290Leu) c.1264G>T (p.Val422Leu) c.295G>T (p.Val99Leu) | |
20 | g.63415041C= | CA2374778823 | KCNQ2 | c.1333G= (p.Val445=) c.1387G= (p.Val463=) c.784G= (p.Val262=) c.1297G= (p.Val433=) c.955G= (p.Val319=) c.1303G= (p.Val435=) c.1267G= (p.Val423=) c.447G= c.1357G= (p.Val453=) c.1261G= (p.Val421=) c.868G= (p.Val290=) c.1264G= (p.Val422=) c.295G= (p.Val99=) | |
20 | g.63415041C>G | CA409646693 | KCNQ2 | c.1333G>C (p.Val445Leu) c.1387G>C (p.Val463Leu) c.784G>C (p.Val262Leu) c.1297G>C (p.Val433Leu) c.955G>C (p.Val319Leu) c.1303G>C (p.Val435Leu) c.1267G>C (p.Val423Leu) c.447G>C c.1357G>C (p.Val453Leu) c.1261G>C (p.Val421Leu) c.868G>C (p.Val290Leu) c.1264G>C (p.Val422Leu) c.295G>C (p.Val99Leu) | |
20 | g.63415041C>T | CA409646694 | KCNQ2 | c.1333G>A (p.Val445Met) c.1387G>A (p.Val463Met) c.784G>A (p.Val262Met) c.1297G>A (p.Val433Met) c.955G>A (p.Val319Met) c.1303G>A (p.Val435Met) c.1267G>A (p.Val423Met) c.447G>A c.1357G>A (p.Val453Met) c.1261G>A (p.Val421Met) c.868G>A (p.Val290Met) c.1264G>A (p.Val422Met) c.295G>A (p.Val99Met) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63415042A>C | CA511339753 | KCNQ2 | c.1332T>G (p.Thr444=) c.1386T>G (p.Thr462=) c.783T>G (p.Thr261=) c.1296T>G (p.Thr432=) c.954T>G (p.Thr318=) c.1302T>G (p.Thr434=) c.1266T>G (p.Thr422=) c.446T>G c.1356T>G (p.Thr452=) c.1260T>G (p.Thr420=) c.867T>G (p.Thr289=) c.1263T>G (p.Thr421=) c.294T>G (p.Thr98=) | |
20 | g.63415042A>G | CA511339754 | KCNQ2 | c.1332T>C (p.Thr444=) c.1386T>C (p.Thr462=) c.783T>C (p.Thr261=) c.1296T>C (p.Thr432=) c.954T>C (p.Thr318=) c.1302T>C (p.Thr434=) c.1266T>C (p.Thr422=) c.446T>C c.1356T>C (p.Thr452=) c.1260T>C (p.Thr420=) c.867T>C (p.Thr289=) c.1263T>C (p.Thr421=) c.294T>C (p.Thr98=) | |
20 | g.63415042A>T | CA511339752 | KCNQ2 | c.1332T>A (p.Thr444=) c.1386T>A (p.Thr462=) c.783T>A (p.Thr261=) c.1296T>A (p.Thr432=) c.954T>A (p.Thr318=) c.1302T>A (p.Thr434=) c.1266T>A (p.Thr422=) c.446T>A c.1356T>A (p.Thr452=) c.1260T>A (p.Thr420=) c.867T>A (p.Thr289=) c.1263T>A (p.Thr421=) c.294T>A (p.Thr98=) | |
20 | g.63415043G>A | CA409646695 | KCNQ2 | c.1331C>T (p.Thr444Ile) c.1385C>T (p.Thr462Ile) c.782C>T (p.Thr261Ile) c.1295C>T (p.Thr432Ile) c.953C>T (p.Thr318Ile) c.1301C>T (p.Thr434Ile) c.1265C>T (p.Thr422Ile) c.445C>T c.1355C>T (p.Thr452Ile) c.1259C>T (p.Thr420Ile) c.866C>T (p.Thr289Ile) c.1262C>T (p.Thr421Ile) c.293C>T (p.Thr98Ile) | gnomAD v4 |
20 | g.63415043G>C | CA409646696 | KCNQ2 | c.1331C>G (p.Thr444Ser) c.1385C>G (p.Thr462Ser) c.782C>G (p.Thr261Ser) c.1295C>G (p.Thr432Ser) c.953C>G (p.Thr318Ser) c.1301C>G (p.Thr434Ser) c.1265C>G (p.Thr422Ser) c.445C>G c.1355C>G (p.Thr452Ser) c.1259C>G (p.Thr420Ser) c.866C>G (p.Thr289Ser) c.1262C>G (p.Thr421Ser) c.293C>G (p.Thr98Ser) | |
20 | g.63415043G>T | CA409646697 | KCNQ2 | c.1331C>A (p.Thr444Asn) c.1385C>A (p.Thr462Asn) c.782C>A (p.Thr261Asn) c.1295C>A (p.Thr432Asn) c.953C>A (p.Thr318Asn) c.1301C>A (p.Thr434Asn) c.1265C>A (p.Thr422Asn) c.445C>A c.1355C>A (p.Thr452Asn) c.1259C>A (p.Thr420Asn) c.866C>A (p.Thr289Asn) c.1262C>A (p.Thr421Asn) c.293C>A (p.Thr98Asn) | gnomAD v4 |
20 | g.63415044T>A | CA409646698 | KCNQ2 | c.1330A>T (p.Thr444Ser) c.1384A>T (p.Thr462Ser) c.781A>T (p.Thr261Ser) c.1294A>T (p.Thr432Ser) c.952A>T (p.Thr318Ser) c.1300A>T (p.Thr434Ser) c.1264A>T (p.Thr422Ser) c.444A>T c.1354A>T (p.Thr452Ser) c.1258A>T (p.Thr420Ser) c.865A>T (p.Thr289Ser) c.1261A>T (p.Thr421Ser) c.292A>T (p.Thr98Ser) | |
20 | g.63415044T>C | CA409646699 | KCNQ2 | c.1330A>G (p.Thr444Ala) c.1384A>G (p.Thr462Ala) c.781A>G (p.Thr261Ala) c.1294A>G (p.Thr432Ala) c.952A>G (p.Thr318Ala) c.1300A>G (p.Thr434Ala) c.1264A>G (p.Thr422Ala) c.444A>G c.1354A>G (p.Thr452Ala) c.1258A>G (p.Thr420Ala) c.865A>G (p.Thr289Ala) c.1261A>G (p.Thr421Ala) c.292A>G (p.Thr98Ala) | |
20 | g.63415044T>G | CA409646700 | KCNQ2 | c.1330A>C (p.Thr444Pro) c.1384A>C (p.Thr462Pro) c.781A>C (p.Thr261Pro) c.1294A>C (p.Thr432Pro) c.952A>C (p.Thr318Pro) c.1300A>C (p.Thr434Pro) c.1264A>C (p.Thr422Pro) c.444A>C c.1354A>C (p.Thr452Pro) c.1258A>C (p.Thr420Pro) c.865A>C (p.Thr289Pro) c.1261A>C (p.Thr421Pro) c.292A>C (p.Thr98Pro) | |
20 | g.63415045C>A | CA409646702 | KCNQ2 | c.1329G>T (p.Gln443His) c.1383G>T (p.Gln461His) c.780G>T (p.Gln260His) c.1293G>T (p.Gln431His) c.951G>T (p.Gln317His) c.1299G>T (p.Gln433His) c.1263G>T (p.Gln421His) c.443G>T c.1353G>T (p.Gln451His) c.1257G>T (p.Gln419His) c.864G>T (p.Gln288His) c.1260G>T (p.Gln420His) c.291G>T (p.Gln97His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63415045C= | CA2374778824 | KCNQ2 | c.1329G= (p.Gln443=) c.1383G= (p.Gln461=) c.780G= (p.Gln260=) c.1293G= (p.Gln431=) c.951G= (p.Gln317=) c.1299G= (p.Gln433=) c.1263G= (p.Gln421=) c.443G= c.1353G= (p.Gln451=) c.1257G= (p.Gln419=) c.864G= (p.Gln288=) c.1260G= (p.Gln420=) c.291G= (p.Gln97=) | |
20 | g.63415045C>G | CA409646701 | KCNQ2 | c.1329G>C (p.Gln443His) c.1383G>C (p.Gln461His) c.780G>C (p.Gln260His) c.1293G>C (p.Gln431His) c.951G>C (p.Gln317His) c.1299G>C (p.Gln433His) c.1263G>C (p.Gln421His) c.443G>C c.1353G>C (p.Gln451His) c.1257G>C (p.Gln419His) c.864G>C (p.Gln288His) c.1260G>C (p.Gln420His) c.291G>C (p.Gln97His) | |
20 | g.63415045C>T | CA511339758 | KCNQ2 | c.1329G>A (p.Gln443=) c.1383G>A (p.Gln461=) c.780G>A (p.Gln260=) c.1293G>A (p.Gln431=) c.951G>A (p.Gln317=) c.1299G>A (p.Gln433=) c.1263G>A (p.Gln421=) c.443G>A c.1353G>A (p.Gln451=) c.1257G>A (p.Gln419=) c.864G>A (p.Gln288=) c.1260G>A (p.Gln420=) c.291G>A (p.Gln97=) | |
20 | g.63415046T>A | CA409646703 | KCNQ2 | c.1328A>T (p.Gln443Leu) c.1382A>T (p.Gln461Leu) c.779A>T (p.Gln260Leu) c.1292A>T (p.Gln431Leu) c.950A>T (p.Gln317Leu) c.1298A>T (p.Gln433Leu) c.1262A>T (p.Gln421Leu) c.442A>T c.1352A>T (p.Gln451Leu) c.1256A>T (p.Gln419Leu) c.863A>T (p.Gln288Leu) c.1259A>T (p.Gln420Leu) c.290A>T (p.Gln97Leu) | |
20 | g.63415046T>C | CA409646704 | KCNQ2 | c.1328A>G (p.Gln443Arg) c.1382A>G (p.Gln461Arg) c.779A>G (p.Gln260Arg) c.1292A>G (p.Gln431Arg) c.950A>G (p.Gln317Arg) c.1298A>G (p.Gln433Arg) c.1262A>G (p.Gln421Arg) c.442A>G c.1352A>G (p.Gln451Arg) c.1256A>G (p.Gln419Arg) c.863A>G (p.Gln288Arg) c.1259A>G (p.Gln420Arg) c.290A>G (p.Gln97Arg) | |
20 | g.63415046T>G | CA10654790 | KCNQ2 | c.1328A>C (p.Gln443Pro) c.1382A>C (p.Gln461Pro) c.779A>C (p.Gln260Pro) c.1292A>C (p.Gln431Pro) c.950A>C (p.Gln317Pro) c.1298A>C (p.Gln433Pro) c.1262A>C (p.Gln421Pro) c.442A>C c.1352A>C (p.Gln451Pro) c.1256A>C (p.Gln419Pro) c.863A>C (p.Gln288Pro) c.1259A>C (p.Gln420Pro) c.290A>C (p.Gln97Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63415046T= | CA2374778825 | KCNQ2 | c.1328A= (p.Gln443=) c.1382A= (p.Gln461=) c.779A= (p.Gln260=) c.1292A= (p.Gln431=) c.950A= (p.Gln317=) c.1298A= (p.Gln433=) c.1262A= (p.Gln421=) c.442A= c.1352A= (p.Gln451=) c.1256A= (p.Gln419=) c.863A= (p.Gln288=) c.1259A= (p.Gln420=) c.290A= (p.Gln97=) | |
20 | g.63415047G>A | CA317431068 | KCNQ2 | c.1327C>T (p.Gln443Ter) c.1381C>T (p.Gln461Ter) c.778C>T (p.Gln260Ter) c.1291C>T (p.Gln431Ter) c.949C>T (p.Gln317Ter) c.1297C>T (p.Gln433Ter) c.1261C>T (p.Gln421Ter) c.441C>T c.1351C>T (p.Gln451Ter) c.1255C>T (p.Gln419Ter) c.862C>T (p.Gln288Ter) c.1258C>T (p.Gln420Ter) c.289C>T (p.Gln97Ter) | ClinVar dbSNP |
20 | g.63415047G>C | CA409646705 | KCNQ2 | c.1327C>G (p.Gln443Glu) c.1381C>G (p.Gln461Glu) c.778C>G (p.Gln260Glu) c.1291C>G (p.Gln431Glu) c.949C>G (p.Gln317Glu) c.1297C>G (p.Gln433Glu) c.1261C>G (p.Gln421Glu) c.441C>G c.1351C>G (p.Gln451Glu) c.1255C>G (p.Gln419Glu) c.862C>G (p.Gln288Glu) c.1258C>G (p.Gln420Glu) c.289C>G (p.Gln97Glu) | |
20 | g.63415047G= | CA2374778826 | KCNQ2 | c.1327C= (p.Gln443=) c.1381C= (p.Gln461=) c.778C= (p.Gln260=) c.1291C= (p.Gln431=) c.949C= (p.Gln317=) c.1297C= (p.Gln433=) c.1261C= (p.Gln421=) c.441C= c.1351C= (p.Gln451=) c.1255C= (p.Gln419=) c.862C= (p.Gln288=) c.1258C= (p.Gln420=) c.289C= (p.Gln97=) | |
20 | g.63415047G>T | CA409646706 | KCNQ2 | c.1327C>A (p.Gln443Lys) c.1381C>A (p.Gln461Lys) c.778C>A (p.Gln260Lys) c.1291C>A (p.Gln431Lys) c.949C>A (p.Gln317Lys) c.1297C>A (p.Gln433Lys) c.1261C>A (p.Gln421Lys) c.441C>A c.1351C>A (p.Gln451Lys) c.1255C>A (p.Gln419Lys) c.862C>A (p.Gln288Lys) c.1258C>A (p.Gln420Lys) c.289C>A (p.Gln97Lys) | |
20 | g.63415048G>A | CA511339762 | KCNQ2 | c.1326C>T (p.Ala442=) c.1380C>T (p.Ala460=) c.777C>T (p.Ala259=) c.1290C>T (p.Ala430=) c.948C>T (p.Ala316=) c.1296C>T (p.Ala432=) c.1260C>T (p.Ala420=) c.440C>T c.1350C>T (p.Ala450=) c.1254C>T (p.Ala418=) c.861C>T (p.Ala287=) c.1257C>T (p.Ala419=) c.288C>T (p.Ala96=) | |
20 | g.63415048G>C | CA511339763 | KCNQ2 | c.1326C>G (p.Ala442=) c.1380C>G (p.Ala460=) c.777C>G (p.Ala259=) c.1290C>G (p.Ala430=) c.948C>G (p.Ala316=) c.1296C>G (p.Ala432=) c.1260C>G (p.Ala420=) c.440C>G c.1350C>G (p.Ala450=) c.1254C>G (p.Ala418=) c.861C>G (p.Ala287=) c.1257C>G (p.Ala419=) c.288C>G (p.Ala96=) | gnomAD v4 |
20 | g.63415048G>T | CA511339764 | KCNQ2 | c.1326C>A (p.Ala442=) c.1380C>A (p.Ala460=) c.777C>A (p.Ala259=) c.1290C>A (p.Ala430=) c.948C>A (p.Ala316=) c.1296C>A (p.Ala432=) c.1260C>A (p.Ala420=) c.440C>A c.1350C>A (p.Ala450=) c.1254C>A (p.Ala418=) c.861C>A (p.Ala287=) c.1257C>A (p.Ala419=) c.288C>A (p.Ala96=) | |
20 | g.63415049G>A | CA409646709 | KCNQ2 | c.1325C>T (p.Ala442Val) c.1379C>T (p.Ala460Val) c.776C>T (p.Ala259Val) c.1289C>T (p.Ala430Val) c.947C>T (p.Ala316Val) c.1295C>T (p.Ala432Val) c.1259C>T (p.Ala420Val) c.439C>T c.1349C>T (p.Ala450Val) c.1253C>T (p.Ala418Val) c.860C>T (p.Ala287Val) c.1256C>T (p.Ala419Val) c.287C>T (p.Ala96Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63415049G>C | CA409646707 | KCNQ2 | c.1325C>G (p.Ala442Gly) c.1379C>G (p.Ala460Gly) c.776C>G (p.Ala259Gly) c.1289C>G (p.Ala430Gly) c.947C>G (p.Ala316Gly) c.1295C>G (p.Ala432Gly) c.1259C>G (p.Ala420Gly) c.439C>G c.1349C>G (p.Ala450Gly) c.1253C>G (p.Ala418Gly) c.860C>G (p.Ala287Gly) c.1256C>G (p.Ala419Gly) c.287C>G (p.Ala96Gly) | |
20 | g.63415049G= | CA2374778827 | KCNQ2 | c.1325C= (p.Ala442=) c.1379C= (p.Ala460=) c.776C= (p.Ala259=) c.1289C= (p.Ala430=) c.947C= (p.Ala316=) c.1295C= (p.Ala432=) c.1259C= (p.Ala420=) c.439C= c.1349C= (p.Ala450=) c.1253C= (p.Ala418=) c.860C= (p.Ala287=) c.1256C= (p.Ala419=) c.287C= (p.Ala96=) | |
20 | g.63415049G>T | CA409646708 | KCNQ2 | c.1325C>A (p.Ala442Asp) c.1379C>A (p.Ala460Asp) c.776C>A (p.Ala259Asp) c.1289C>A (p.Ala430Asp) c.947C>A (p.Ala316Asp) c.1295C>A (p.Ala432Asp) c.1259C>A (p.Ala420Asp) c.439C>A c.1349C>A (p.Ala450Asp) c.1253C>A (p.Ala418Asp) c.860C>A (p.Ala287Asp) c.1256C>A (p.Ala419Asp) c.287C>A (p.Ala96Asp) | gnomAD v4 |
20 | g.63415050C>A | CA409646710 | KCNQ2 | c.1324G>T (p.Ala442Ser) c.1378G>T (p.Ala460Ser) c.775G>T (p.Ala259Ser) c.1288G>T (p.Ala430Ser) c.946G>T (p.Ala316Ser) c.1294G>T (p.Ala432Ser) c.1258G>T (p.Ala420Ser) c.438G>T c.1348G>T (p.Ala450Ser) c.1252G>T (p.Ala418Ser) c.859G>T (p.Ala287Ser) c.1255G>T (p.Ala419Ser) c.286G>T (p.Ala96Ser) | |
20 | g.63415050C= | CA2374778828 | KCNQ2 | c.1324G= (p.Ala442=) c.1378G= (p.Ala460=) c.775G= (p.Ala259=) c.1288G= (p.Ala430=) c.946G= (p.Ala316=) c.1294G= (p.Ala432=) c.1258G= (p.Ala420=) c.438G= c.1348G= (p.Ala450=) c.1252G= (p.Ala418=) c.859G= (p.Ala287=) c.1255G= (p.Ala419=) c.286G= (p.Ala96=) | |
20 | g.63415050C>G | CA409646711 | KCNQ2 | c.1324G>C (p.Ala442Pro) c.1378G>C (p.Ala460Pro) c.775G>C (p.Ala259Pro) c.1288G>C (p.Ala430Pro) c.946G>C (p.Ala316Pro) c.1294G>C (p.Ala432Pro) c.1258G>C (p.Ala420Pro) c.438G>C c.1348G>C (p.Ala450Pro) c.1252G>C (p.Ala418Pro) c.859G>C (p.Ala287Pro) c.1255G>C (p.Ala419Pro) c.286G>C (p.Ala96Pro) | |
20 | g.63415050C>T | CA409646712 | KCNQ2 | c.1324G>A (p.Ala442Thr) c.1378G>A (p.Ala460Thr) c.775G>A (p.Ala259Thr) c.1288G>A (p.Ala430Thr) c.946G>A (p.Ala316Thr) c.1294G>A (p.Ala432Thr) c.1258G>A (p.Ala420Thr) c.438G>A c.1348G>A (p.Ala450Thr) c.1252G>A (p.Ala418Thr) c.859G>A (p.Ala287Thr) c.1255G>A (p.Ala419Thr) c.286G>A (p.Ala96Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63415051C>A | CA409646713 | KCNQ2 | c.1323G>T (p.Gln441His) c.1377G>T (p.Gln459His) c.774G>T (p.Gln258His) c.1287G>T (p.Gln429His) c.945G>T (p.Gln315His) c.1293G>T (p.Gln431His) c.1257G>T (p.Gln419His) c.437G>T c.1347G>T (p.Gln449His) c.1251G>T (p.Gln417His) c.858G>T (p.Gln286His) c.1254G>T (p.Gln418His) c.285G>T (p.Gln95His) | |
20 | g.63415051C>G | CA409646714 | KCNQ2 | c.1323G>C (p.Gln441His) c.1377G>C (p.Gln459His) c.774G>C (p.Gln258His) c.1287G>C (p.Gln429His) c.945G>C (p.Gln315His) c.1293G>C (p.Gln431His) c.1257G>C (p.Gln419His) c.437G>C c.1347G>C (p.Gln449His) c.1251G>C (p.Gln417His) c.858G>C (p.Gln286His) c.1254G>C (p.Gln418His) c.285G>C (p.Gln95His) | |
20 | g.63415051C>T | CA511339768 | KCNQ2 | c.1323G>A (p.Gln441=) c.1377G>A (p.Gln459=) c.774G>A (p.Gln258=) c.1287G>A (p.Gln429=) c.945G>A (p.Gln315=) c.1293G>A (p.Gln431=) c.1257G>A (p.Gln419=) c.437G>A c.1347G>A (p.Gln449=) c.1251G>A (p.Gln417=) c.858G>A (p.Gln286=) c.1254G>A (p.Gln418=) c.285G>A (p.Gln95=) | gnomAD v4 |
20 | g.63415052T>A | CA409646717 | KCNQ2 | c.1322A>T (p.Gln441Leu) c.1376A>T (p.Gln459Leu) c.773A>T (p.Gln258Leu) c.1286A>T (p.Gln429Leu) c.944A>T (p.Gln315Leu) c.1292A>T (p.Gln431Leu) c.1256A>T (p.Gln419Leu) c.436A>T c.1346A>T (p.Gln449Leu) c.1250A>T (p.Gln417Leu) c.857A>T (p.Gln286Leu) c.1253A>T (p.Gln418Leu) c.284A>T (p.Gln95Leu) | |
20 | g.63415052T>C | CA409646715 | KCNQ2 | c.1322A>G (p.Gln441Arg) c.1376A>G (p.Gln459Arg) c.773A>G (p.Gln258Arg) c.1286A>G (p.Gln429Arg) c.944A>G (p.Gln315Arg) c.1292A>G (p.Gln431Arg) c.1256A>G (p.Gln419Arg) c.436A>G c.1346A>G (p.Gln449Arg) c.1250A>G (p.Gln417Arg) c.857A>G (p.Gln286Arg) c.1253A>G (p.Gln418Arg) c.284A>G (p.Gln95Arg) | gnomAD v4 |
20 | g.63415052T>G | CA409646716 | KCNQ2 | c.1322A>C (p.Gln441Pro) c.1376A>C (p.Gln459Pro) c.773A>C (p.Gln258Pro) c.1286A>C (p.Gln429Pro) c.944A>C (p.Gln315Pro) c.1292A>C (p.Gln431Pro) c.1256A>C (p.Gln419Pro) c.436A>C c.1346A>C (p.Gln449Pro) c.1250A>C (p.Gln417Pro) c.857A>C (p.Gln286Pro) c.1253A>C (p.Gln418Pro) c.284A>C (p.Gln95Pro) | |
20 | g.63415053G>A | CA409646718 | KCNQ2 | c.1321C>T (p.Gln441Ter) c.1375C>T (p.Gln459Ter) c.772C>T (p.Gln258Ter) c.1285C>T (p.Gln429Ter) c.943C>T (p.Gln315Ter) c.1291C>T (p.Gln431Ter) c.1255C>T (p.Gln419Ter) c.435C>T c.1345C>T (p.Gln449Ter) c.1249C>T (p.Gln417Ter) c.856C>T (p.Gln286Ter) c.1252C>T (p.Gln418Ter) c.283C>T (p.Gln95Ter) | ClinVar dbSNP |
20 | g.63415053G>C | CA409646719 | KCNQ2 | c.1321C>G (p.Gln441Glu) c.1375C>G (p.Gln459Glu) c.772C>G (p.Gln258Glu) c.1285C>G (p.Gln429Glu) c.943C>G (p.Gln315Glu) c.1291C>G (p.Gln431Glu) c.1255C>G (p.Gln419Glu) c.435C>G c.1345C>G (p.Gln449Glu) c.1249C>G (p.Gln417Glu) c.856C>G (p.Gln286Glu) c.1252C>G (p.Gln418Glu) c.283C>G (p.Gln95Glu) | |
20 | g.63415053G>T | CA409646720 | KCNQ2 | c.1321C>A (p.Gln441Lys) c.1375C>A (p.Gln459Lys) c.772C>A (p.Gln258Lys) c.1285C>A (p.Gln429Lys) c.943C>A (p.Gln315Lys) c.1291C>A (p.Gln431Lys) c.1255C>A (p.Gln419Lys) c.435C>A c.1345C>A (p.Gln449Lys) c.1249C>A (p.Gln417Lys) c.856C>A (p.Gln286Lys) c.1252C>A (p.Gln418Lys) c.283C>A (p.Gln95Lys) | gnomAD v4 |
20 | g.63415054del | CA2695230084 | KCNQ2 | c.1320del (p.Gln441ArgfsTer5) c.1374del (p.Gln459ArgfsTer5) c.771del (p.Gln258ArgfsTer5) c.1284del (p.Gln429ArgfsTer5) c.942del (p.Gln315ArgfsTer5) c.1290del (p.Gln431ArgfsTer5) c.1254del (p.Gln419ArgfsTer5) c.434del c.1344del (p.Gln449ArgfsTer5) c.1248del (p.Gln417ArgfsTer5) c.855del (p.Gln286ArgfsTer5) c.1251del (p.Gln418ArgfsTer5) c.282del (p.Gln95ArgfsTer5) | |
20 | g.63415054C>A | CA511339769 | KCNQ2 | c.1320G>T (p.Pro440=) c.1374G>T (p.Pro458=) c.771G>T (p.Pro257=) c.1284G>T (p.Pro428=) c.942G>T (p.Pro314=) c.1290G>T (p.Pro430=) c.1254G>T (p.Pro418=) c.434G>T c.1344G>T (p.Pro448=) c.1248G>T (p.Pro416=) c.855G>T (p.Pro285=) c.1251G>T (p.Pro417=) c.282G>T (p.Pro94=) | |
20 | g.63415054C= | CA2374778829 | KCNQ2 | c.1320G= (p.Pro440=) c.1374G= (p.Pro458=) c.771G= (p.Pro257=) c.1284G= (p.Pro428=) c.942G= (p.Pro314=) c.1290G= (p.Pro430=) c.1254G= (p.Pro418=) c.434G= c.1344G= (p.Pro448=) c.1248G= (p.Pro416=) c.855G= (p.Pro285=) c.1251G= (p.Pro417=) c.282G= (p.Pro94=) | |
20 | g.63415054C>G | CA511339770 | KCNQ2 | c.1320G>C (p.Pro440=) c.1374G>C (p.Pro458=) c.771G>C (p.Pro257=) c.1284G>C (p.Pro428=) c.942G>C (p.Pro314=) c.1290G>C (p.Pro430=) c.1254G>C (p.Pro418=) c.434G>C c.1344G>C (p.Pro448=) c.1248G>C (p.Pro416=) c.855G>C (p.Pro285=) c.1251G>C (p.Pro417=) c.282G>C (p.Pro94=) | dbSNP |
20 | g.63415054C>T | CA9958463 | KCNQ2 | c.1320G>A (p.Pro440=) c.1374G>A (p.Pro458=) c.771G>A (p.Pro257=) c.1284G>A (p.Pro428=) c.942G>A (p.Pro314=) c.1290G>A (p.Pro430=) c.1254G>A (p.Pro418=) c.434G>A c.1344G>A (p.Pro448=) c.1248G>A (p.Pro416=) c.855G>A (p.Pro285=) c.1251G>A (p.Pro417=) c.282G>A (p.Pro94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63415054_63415071delinsCGGGGACCCCTTCCCCTT | CA2374778830 | KCNQ2 | c.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=) | |
20 | g.63415055G>A | CA409646721 | KCNQ2 | c.1319C>T (p.Pro440Leu) c.1373C>T (p.Pro458Leu) c.770C>T (p.Pro257Leu) c.1283C>T (p.Pro428Leu) c.941C>T (p.Pro314Leu) c.1289C>T (p.Pro430Leu) c.1253C>T (p.Pro418Leu) c.433C>T c.1343C>T (p.Pro448Leu) c.1247C>T (p.Pro416Leu) c.854C>T (p.Pro285Leu) c.1250C>T (p.Pro417Leu) c.281C>T (p.Pro94Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63415055G>C | CA409646722 | KCNQ2 | c.1319C>G (p.Pro440Arg) c.1373C>G (p.Pro458Arg) c.770C>G (p.Pro257Arg) c.1283C>G (p.Pro428Arg) c.941C>G (p.Pro314Arg) c.1289C>G (p.Pro430Arg) c.1253C>G (p.Pro418Arg) c.433C>G c.1343C>G (p.Pro448Arg) c.1247C>G (p.Pro416Arg) c.854C>G (p.Pro285Arg) c.1250C>G (p.Pro417Arg) c.281C>G (p.Pro94Arg) | |
20 | g.63415055G= | CA2374778831 | KCNQ2 | c.1319C= (p.Pro440=) c.1373C= (p.Pro458=) c.770C= (p.Pro257=) c.1283C= (p.Pro428=) c.941C= (p.Pro314=) c.1289C= (p.Pro430=) c.1253C= (p.Pro418=) c.433C= c.1343C= (p.Pro448=) c.1247C= (p.Pro416=) c.854C= (p.Pro285=) c.1250C= (p.Pro417=) c.281C= (p.Pro94=) | |
20 | g.63415055G>T | CA409646723 | KCNQ2 | c.1319C>A (p.Pro440Gln) c.1373C>A (p.Pro458Gln) c.770C>A (p.Pro257Gln) c.1283C>A (p.Pro428Gln) c.941C>A (p.Pro314Gln) c.1289C>A (p.Pro430Gln) c.1253C>A (p.Pro418Gln) c.433C>A c.1343C>A (p.Pro448Gln) c.1247C>A (p.Pro416Gln) c.854C>A (p.Pro285Gln) c.1250C>A (p.Pro417Gln) c.281C>A (p.Pro94Gln) | gnomAD v4 |
20 | g.63415058del | CA2653800660 | KCNQ2 | c.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 |
20 | g.63415057_63415073del | CA658658884 | KCNQ2 | c.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 |
20 | g.63415056G>A | CA409646724 | KCNQ2 | c.1318C>T (p.Pro440Ser) c.1372C>T (p.Pro458Ser) c.769C>T (p.Pro257Ser) c.1282C>T (p.Pro428Ser) c.940C>T (p.Pro314Ser) c.1288C>T (p.Pro430Ser) c.1252C>T (p.Pro418Ser) c.432C>T c.1342C>T (p.Pro448Ser) c.1246C>T (p.Pro416Ser) c.853C>T (p.Pro285Ser) c.1249C>T (p.Pro417Ser) c.280C>T (p.Pro94Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63415056G>C | CA409646725 | KCNQ2 | c.1318C>G (p.Pro440Ala) c.1372C>G (p.Pro458Ala) c.769C>G (p.Pro257Ala) c.1282C>G (p.Pro428Ala) c.940C>G (p.Pro314Ala) c.1288C>G (p.Pro430Ala) c.1252C>G (p.Pro418Ala) c.432C>G c.1342C>G (p.Pro448Ala) c.1246C>G (p.Pro416Ala) c.853C>G (p.Pro285Ala) c.1249C>G (p.Pro417Ala) c.280C>G (p.Pro94Ala) | |
20 | g.63415056G= | CA2374778832 | KCNQ2 | c.1318C= (p.Pro440=) c.1372C= (p.Pro458=) c.769C= (p.Pro257=) c.1282C= (p.Pro428=) c.940C= (p.Pro314=) c.1288C= (p.Pro430=) c.1252C= (p.Pro418=) c.432C= c.1342C= (p.Pro448=) c.1246C= (p.Pro416=) c.853C= (p.Pro285=) c.1249C= (p.Pro417=) c.280C= (p.Pro94=) | |
20 | g.63415056G>T | CA409646726 | KCNQ2 | c.1318C>A (p.Pro440Thr) c.1372C>A (p.Pro458Thr) c.769C>A (p.Pro257Thr) c.1282C>A (p.Pro428Thr) c.940C>A (p.Pro314Thr) c.1288C>A (p.Pro430Thr) c.1252C>A (p.Pro418Thr) c.432C>A c.1342C>A (p.Pro448Thr) c.1246C>A (p.Pro416Thr) c.853C>A (p.Pro285Thr) c.1249C>A (p.Pro417Thr) c.280C>A (p.Pro94Thr) | gnomAD v4 |
20 | g.63415057G>A | CA511339776 | KCNQ2 | c.1317C>T (p.Ser439=) c.1371C>T (p.Ser457=) c.768C>T (p.Ser256=) c.1281C>T (p.Ser427=) c.939C>T (p.Ser313=) c.1287C>T (p.Ser429=) c.1251C>T (p.Ser417=) c.431C>T c.1341C>T (p.Ser447=) c.1245C>T (p.Ser415=) c.852C>T (p.Ser284=) c.1248C>T (p.Ser416=) c.279C>T (p.Ser93=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63415057G>C | CA511339775 | KCNQ2 | c.1317C>G (p.Ser439=) c.1371C>G (p.Ser457=) c.768C>G (p.Ser256=) c.1281C>G (p.Ser427=) c.939C>G (p.Ser313=) c.1287C>G (p.Ser429=) c.1251C>G (p.Ser417=) c.431C>G c.1341C>G (p.Ser447=) c.1245C>G (p.Ser415=) c.852C>G (p.Ser284=) c.1248C>G (p.Ser416=) c.279C>G (p.Ser93=) | |
20 | g.63415057G= | CA2374778833 | KCNQ2 | c.1317C= (p.Ser439=) c.1371C= (p.Ser457=) c.768C= (p.Ser256=) c.1281C= (p.Ser427=) c.939C= (p.Ser313=) c.1287C= (p.Ser429=) c.1251C= (p.Ser417=) c.431C= c.1341C= (p.Ser447=) c.1245C= (p.Ser415=) c.852C= (p.Ser284=) c.1248C= (p.Ser416=) c.279C= (p.Ser93=) | |
20 | g.63415057G>T | CA511339774 | KCNQ2 | c.1317C>A (p.Ser439=) c.1371C>A (p.Ser457=) c.768C>A (p.Ser256=) c.1281C>A (p.Ser427=) c.939C>A (p.Ser313=) c.1287C>A (p.Ser429=) c.1251C>A (p.Ser417=) c.431C>A c.1341C>A (p.Ser447=) c.1245C>A (p.Ser415=) c.852C>A (p.Ser284=) c.1248C>A (p.Ser416=) c.279C>A (p.Ser93=) | gnomAD v4 |
20 | g.63415058G>A | CA409646727 | KCNQ2 | c.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 |
20 | g.63415058G>C | CA409646728 | KCNQ2 | c.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 |
20 | g.63415058G= | CA2374778834 | KCNQ2 | c.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=) | |
20 | g.63415058G>T | CA409646729 | KCNQ2 | c.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 |
20 | g.63415059A= | CA2374778835 | KCNQ2 | c.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=) | |
20 | g.63415059A>C | CA317431105 | KCNQ2 | c.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 |
20 | g.63415059A>G | CA409646731 | KCNQ2 | c.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) | |
20 | g.63415059A>T | CA409646730 | KCNQ2 | c.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 |
20 | g.63415060C>A | CA511339781 | KCNQ2 | c.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=) | |
20 | g.63415060C= | CA2374778836 | KCNQ2 | c.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=) | |
20 | g.63415060C>G | CA511339782 | KCNQ2 | c.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=) | |
20 | g.63415060C>T | CA9958464 | KCNQ2 | c.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 |
20 | g.63415063del | CA2499225796 | KCNQ2 | c.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 |
20 | g.63415061C>A | CA409646732 | KCNQ2 | c.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 |
20 | g.63415061C= | CA2374778837 | KCNQ2 | c.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=) | |
20 | g.63415061C>G | CA409646733 | KCNQ2 | c.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) | |
20 | g.63415061C>T | CA9958465 | KCNQ2 | c.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 |
20 | g.63415062C>A | CA409646734 | KCNQ2 | c.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 |
20 | g.63415062C= | CA2374778838 | KCNQ2 | c.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=) | |
20 | g.63415062C>G | CA409646735 | KCNQ2 | c.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) | |
20 | g.63415062C>T | CA409646736 | KCNQ2 | c.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) | |
20 | g.63415063C>A | CA409646737 | KCNQ2 | c.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) | |
20 | g.63415063C= | CA2374778839 | KCNQ2 | c.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=) | |
20 | g.63415063C>G | CA409646738 | KCNQ2 | c.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) | |
20 | g.63415063C>T | CA317431114 | KCNQ2 | c.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 |
20 | g.63415064T>A | CA409646739 | KCNQ2 | c.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) | |
20 | g.63415064T>C | CA409646740 | KCNQ2 | c.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 |
20 | g.63415064T>G | CA409646741 | KCNQ2 | c.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) | |
20 | g.63415064T= | CA2374778840 | KCNQ2 | c.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=) | |
20 | g.63415065T>A | CA409646744 | KCNQ2 | c.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) | |
20 | g.63415065T>C | CA409646742 | KCNQ2 | c.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 |
20 | g.63415065T>G | CA409646743 | KCNQ2 | c.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) | |
20 | g.63415066C>A | CA511339787 | KCNQ2 | c.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 |
20 | g.63415066C>G | CA511339788 | KCNQ2 | c.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 |
20 | g.63415066C>T | CA511339790 | KCNQ2 | c.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=) | |
20 | g.63415067C>A | CA409646745 | KCNQ2 | c.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 |
20 | g.63415067C= | CA2374778841 | KCNQ2 | c.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=) | |
20 | g.63415067C>G | CA409646746 | KCNQ2 | c.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) | |
20 | g.63415067C>T | CA409646747 | KCNQ2 | c.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) | |
20 | g.63415068C>A | CA409646748 | KCNQ2 | c.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) | |
20 | g.63415068C>G | CA409646749 | KCNQ2 | c.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) | |
20 | g.63415068C>T | CA409646750 | KCNQ2 | c.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 |
20 | g.63415069C>A | CA409646751 | KCNQ2 | c.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) | |
20 | g.63415069C>G | CA409646752 | KCNQ2 | c.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) | |
20 | g.63415069C>T | CA511339791 | KCNQ2 | c.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 |
20 | g.63415070T>A | CA409646753 | KCNQ2 | c.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) | |
20 | g.63415070T>C | CA409646754 | KCNQ2 | c.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) | |
20 | g.63415070T>G | CA409646755 | KCNQ2 | c.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 |
20 | g.63415071T>A | CA409646758 | KCNQ2 | c.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) | |
20 | g.63415071T>C | CA409646757 | KCNQ2 | c.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) | |
20 | g.63415071T>G | CA409646756 | KCNQ2 | c.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 |
20 | g.63415071T= | CA2374778842 | KCNQ2 | c.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=) | |
20 | g.63415072G>A | CA511339793 | KCNQ2 | c.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 |
20 | g.63415072G>C | CA511339794 | KCNQ2 | c.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=) | |
20 | g.63415072G>T | CA511339795 | KCNQ2 | c.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=) | |
20 | g.63415073dup | CA1139666780 | KCNQ2 | c.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 |
20 | g.63415073G>A | CA409646759 | KCNQ2 | c.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 |
20 | g.63415073G>C | CA409646761 | KCNQ2 | c.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) | |
20 | g.63415073G>T | CA409646760 | KCNQ2 | c.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 |
20 | g.63415074C>A | CA409646762 | KCNQ2 | c.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) | |
20 | g.63415074C= | CA2374778843 | KCNQ2 | c.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=) | |
20 | g.63415074C>G | CA409646764 | KCNQ2 | c.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) | |
20 | g.63415074C>T | CA409646763 | KCNQ2 | c.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 |
20 | g.63415075A>C | CA511339568 | KCNQ2 | c.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=) | |
20 | g.63415075A>G | CA511339569 | KCNQ2 | c.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=) | |
20 | g.63415075A>T | CA511339570 | KCNQ2 | c.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=) | |
20 | g.63415076G>A | CA9958466 | KCNQ2 | c.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 |
20 | g.63415076G>C | CA409646766 | KCNQ2 | c.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) | |
20 | g.63415076G= | CA2374778844 | KCNQ2 | c.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=) | |
20 | g.63415076G>T | CA409646765 | KCNQ2 | c.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 |
20 | g.63415077C>A | CA409646767 | KCNQ2 | c.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) | |
20 | g.63415077C>G | CA409646769 | KCNQ2 | c.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) | |
20 | g.63415077C>T | CA409646768 | KCNQ2 | c.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 |
20 | g.63415078C>A | CA511339574 | KCNQ2 | c.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=) | |
20 | g.63415078C>G | CA511339575 | KCNQ2 | c.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=) | |
20 | g.63415078C>T | CA511339576 | KCNQ2 | c.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=) | |
20 | g.63415082_63415104del | CA2580098422 | KCNQ2 | c.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 |
20 | g.63415079A>C | CA409646770 | KCNQ2 | c.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) | |
20 | g.63415079A>G | CA409646771 | KCNQ2 | c.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) | |
20 | g.63415079A>T | CA409646772 | KCNQ2 | c.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) | |
20 | g.63415080C>A | CA409646773 | KCNQ2 | c.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) | |
20 | g.63415080C= | CA2374778845 | KCNQ2 | c.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=) | |
20 | g.63415080C>G | CA409646774 | KCNQ2 | c.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) | |
20 | g.63415080C>T | CA288922 | KCNQ2 | c.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 |
20 | g.63415081G>A | CA9958468 | KCNQ2 | c.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 |
20 | g.63415081G>C | CA511339577 | KCNQ2 | c.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=) | |
20 | g.63415081G= | CA2374778846 | KCNQ2 | c.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=) | |
20 | g.63415081G>T | CA9958467 | KCNQ2 | c.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 |
20 | g.63415082C>A | CA409646775 | KCNQ2 | c.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) | |
20 | g.63415082C>G | CA409646776 | KCNQ2 | c.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) | |
20 | g.63415082C>T | CA409646777 | KCNQ2 | c.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) | |
20 | g.63415083C>A | CA409646779 | KCNQ2 | c.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) | |
20 | g.63415083C= | CA2374778847 | KCNQ2 | c.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=) | |
20 | g.63415083C>G | CA409646778 | KCNQ2 | c.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) | |
20 | g.63415083C>T | CA9958469 | KCNQ2 | c.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 |
20 | g.63415084T>A | CA511339584 | KCNQ2 | c.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=) | |
20 | g.63415084T>C | CA511339581 | KCNQ2 | c.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=) | |
20 | g.63415084T>G | CA511339582 | KCNQ2 | c.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=) | |
20 | g.63415085C>A | CA409646780 | KCNQ2 | c.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 |
20 | g.63415085C= | CA2374778848 | KCNQ2 | c.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=) | |
20 | g.63415085C>G | CA409646781 | KCNQ2 | c.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) | |
20 | g.63415085C>T | CA9958470 | KCNQ2 | c.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 |
20 | g.63415086G>A | CA315443 | KCNQ2 | c.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 |
20 | g.63415086G>C | CA409646782 | KCNQ2 | c.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) | |
20 | g.63415086G= | CA2374778849 | KCNQ2 | c.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=) | |
20 | g.63415086G>T | CA511339585 | KCNQ2 | c.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 |
20 | g.63415090del | CA2573157183 | KCNQ2 | c.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 |
20 | g.63415087G>A | CA511339588 | KCNQ2 | c.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 |
20 | g.63415087G>C | CA511339587 | KCNQ2 | c.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=) | |
20 | g.63415087G= | CA2374778850 | KCNQ2 | c.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=) | |
20 | g.63415087G>T | CA511339586 | KCNQ2 | c.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=) | |
20 | g.63415088G>A | CA409646783 | KCNQ2 | c.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) | |
20 | g.63415088G>C | CA409646784 | KCNQ2 | c.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) | |
20 | g.63415088G>T | CA409646785 | KCNQ2 | c.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 |
20 | g.63415089G>A | CA409646786 | KCNQ2 | c.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 |
20 | g.63415089G>C | CA9958471 | KCNQ2 | c.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 |
20 | g.63415089G= | CA2374778851 | KCNQ2 | c.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=) | |
20 | g.63415089G>T | CA409646787 | KCNQ2 | c.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 |
20 | g.63415090G>A | CA511339591 | KCNQ2 | c.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 |
20 | g.63415090G>C | CA409646788 | KCNQ2 | c.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) | |
20 | g.63415090G= | CA2374778852 | KCNQ2 | c.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=) | |
20 | g.63415090G>T | CA409646789 | KCNQ2 | c.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 |
20 | g.63415091C>A | CA409646790 | KCNQ2 | c.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 |
20 | g.63415091C>G | CA409646791 | KCNQ2 | c.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) | |
20 | g.63415091C>T | CA409646792 | KCNQ2 | c.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) | |
20 | g.63415092T>A | CA409646793 | KCNQ2 | c.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) | |
20 | g.63415092T>C | CA409646794 | KCNQ2 | c.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) | |
20 | g.63415092T>G | CA409646795 | KCNQ2 | c.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) | |
20 | g.63415093G>A | CA511339595 | KCNQ2 | c.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 |
20 | g.63415093G>C | CA511339596 | KCNQ2 | c.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=) | |
20 | g.63415093G= | CA2374778853 | KCNQ2 | c.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=) | |
20 | g.63415093G>T | CA511339597 | KCNQ2 | c.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 |
20 | g.63415094_63415096del | CA2653800739 | KCNQ2 | c.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 |
20 | g.63415094G>A | CA409646796 | KCNQ2 | c.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 |
20 | g.63415094G>C | CA409646797 | KCNQ2 | c.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 |
20 | g.63415094G= | CA2374778854 | KCNQ2 | c.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=) | |
20 | g.63415094G>T | CA409646798 | KCNQ2 | c.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 |
20 | g.63415095A= | CA2374778855 | KCNQ2 | c.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=) | |
20 | g.63415095A>C | CA409646799 | KCNQ2 | c.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) | |
20 | g.63415095A>G | CA409646800 | KCNQ2 | c.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 |
20 | g.63415095A>T | CA409646802 | KCNQ2 | c.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) | |
20 | g.63415096G>A | CA511339599 | KCNQ2 | c.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=) | |
20 | g.63415096G>C | CA409646807 | KCNQ2 | c.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) | |
20 | g.63415096G>T | CA409646804 | KCNQ2 | c.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 |
20 | g.63415097A>C | CA409646809 | KCNQ2 | c.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) | |
20 | g.63415097A>G | CA409646810 | KCNQ2 | c.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) | |
20 | g.63415097A>T | CA409646813 | KCNQ2 | c.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) | |
20 | g.63415098A>C | CA409646816 | KCNQ2 | c.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) | |
20 | g.63415098A>G | CA409646823 | KCNQ2 | c.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) | |
20 | g.63415098A>T | CA409646826 | KCNQ2 | c.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) | |
20 | g.63415099G>A | CA511339603 | KCNQ2 | c.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=) | |
20 | g.63415099G>C | CA16608505 | KCNQ2 | c.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 |
20 | g.63415099G= | CA2374778856 | KCNQ2 | c.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=) | |
20 | g.63415099G>T | CA511339607 | KCNQ2 | c.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 |
20 | g.63415100A>C | CA409646828 | KCNQ2 | c.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) | |
20 | g.63415100A>G | CA409646829 | KCNQ2 | c.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) | |
20 | g.63415100A>T | CA409646831 | KCNQ2 | c.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) | |
20 | g.63415101C>A | CA409646834 | KCNQ2 | c.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) | |
20 | g.63415101C= | CA2374778857 | KCNQ2 | c.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=) | |
20 | g.63415101C>G | CA409646835 | KCNQ2 | c.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) | |
20 | g.63415101C>T | CA409646837 | KCNQ2 | c.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 |
20 | g.63415102A>C | CA511339608 | KCNQ2 | c.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=) | |
20 | g.63415102A>G | CA511339610 | KCNQ2 | c.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=) | |
20 | g.63415102A>T | CA511339611 | KCNQ2 | c.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=) | |
20 | g.63415103C>A | CA409646844 | KCNQ2 | c.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) | |
20 | g.63415103C= | CA2374778858 | KCNQ2 | c.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=) | |
20 | g.63415103C>G | CA409646843 | KCNQ2 | c.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) | |
20 | g.63415103C>T | CA409646840 | KCNQ2 | c.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 |
20 | g.63415104G>A | CA409646846 | KCNQ2 | c.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 |
20 | g.63415104G>C | CA409646852 | KCNQ2 | c.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) | |
20 | g.63415104G= | CA2374778859 | KCNQ2 | c.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=) | |
20 | g.63415104G>T | CA409646849 | KCNQ2 | c.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) | |
20 | g.63415105A>C | CA409646855 | KCNQ2 | c.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 |
20 | g.63415105A>G | CA511339617 | KCNQ2 | c.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 |
20 | g.63415105A>T | CA409646857 | KCNQ2 | c.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) | |
20 | g.63415106T>A | CA409646861 | KCNQ2 | c.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) | |
20 | g.63415106T>C | CA9958472 | KCNQ2 | c.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 |
20 | g.63415106T>G | CA409646865 | KCNQ2 | c.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) | |
20 | g.63415106T= | CA2374778860 | KCNQ2 | c.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=) | |
20 | g.63415107C>A | CA409646868 | KCNQ2 | c.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 |
20 | g.63415107C= | CA2374778861 | KCNQ2 | c.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=) | |
20 | g.63415107C>G | CA409646871 | KCNQ2 | c.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) | |
20 | g.63415107C>T | CA9958473 | KCNQ2 | c.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 |
20 | g.63415108T>A | CA409646873 | KCNQ2 | c.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) | |
20 | g.63415108T>C | CA511339619 | KCNQ2 | c.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 |
20 | g.63415108T>G | CA409646875 | KCNQ2 | c.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) | |
20 | g.63415109T>A | CA409646877 | KCNQ2 | c.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) | |
20 | g.63415109T>C | CA9958474 | KCNQ2 | c.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 |
20 | g.63415109T>G | CA409646881 | KCNQ2 | c.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) | |
20 | g.63415109T= | CA2374778862 | KCNQ2 | c.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=) | |
20 | g.63415110T>A | CA409646885 | KCNQ2 | c.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) | |
20 | g.63415110T>C | CA409646890 | KCNQ2 | c.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) | |
20 | g.63415110T>G | CA409646887 | KCNQ2 | c.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) | |
20 | g.63415111C>A | CA409646893 | KCNQ2 | c.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) | |
20 | g.63415111C>G | CA409646895 | KCNQ2 | c.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) | |
20 | g.63415111C>T | CA511339624 | KCNQ2 | c.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=) | |
20 | g.63415112A>C | CA409646896 | KCNQ2 | c.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) | |
20 | g.63415112A>G | CA409646899 | KCNQ2 | c.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) | |
20 | g.63415112A>T | CA409646902 | KCNQ2 | c.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) | |
20 | g.63415113A>C | CA409646904 | KCNQ2 | c.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 |
20 | g.63415113A>G | CA511339631 | KCNQ2 | c.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=) | |
20 | g.63415113A>T | CA409646905 | KCNQ2 | c.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) | |
20 | g.63415114A>C | CA409646908 | KCNQ2 | c.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) | |
20 | g.63415114A>G | CA511339633 | KCNQ2 | c.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=) | |
20 | g.63415114A>T | CA409646911 | KCNQ2 | c.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) | |
20 | g.63415115C>A | CA409646918 | KCNQ2 | c.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 |
20 | g.63415115C= | CA2374778863 | KCNQ2 | c.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=) | |
20 | g.63415115C>G | CA9958475 | KCNQ2 | c.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 |
20 | g.63415115C>T | CA409646915 | KCNQ2 | c.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 |
20 | g.63415116T>A | CA409646919 | KCNQ2 | c.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) | |
20 | g.63415116T>C | CA409646922 | KCNQ2 | c.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) | |
20 | g.63415116T>G | CA409646925 | KCNQ2 | c.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) | |
20 | g.63415117G>A | CA511339637 | KCNQ2 | c.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=) | |
20 | g.63415117G>C | CA511339638 | KCNQ2 | c.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=) | |
20 | g.63415117G>T | CA511339639 | KCNQ2 | c.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 |
20 | g.63415118A>C | CA409646926 | KCNQ2 | c.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) | |
20 | g.63415118A>G | CA409646929 | KCNQ2 | c.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) | |
20 | g.63415118A>T | CA409646930 | KCNQ2 | c.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) | |
20 | g.63415119C>A | CA409646933 | KCNQ2 | c.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) | |
20 | g.63415119C= | CA2374778864 | KCNQ2 | c.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=) | |
20 | g.63415119C>G | CA409646936 | KCNQ2 | c.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 |
20 | g.63415119C>T | CA9958476 | KCNQ2 | c.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 |
20 | g.63415120C>A | CA409646938 | KCNQ2 | c.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) | |
20 | g.63415120C= | CA2374778865 | KCNQ2 | c.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=) | |
20 | g.63415120C>G | CA409646940 | KCNQ2 | c.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) | |
20 | g.63415120C>T | CA317431183 | KCNQ2 | c.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 |
20 | g.63415121T>A | CA409646946 | KCNQ2 | c.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) | |
20 | g.63415121T>C | CA409646944 | KCNQ2 | c.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) | |
20 | g.63415121T>G | CA409646943 | KCNQ2 | c.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) | |
20 | g.63415122T>A | CA409646949 | KCNQ2 | c.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) | |
20 | g.63415122T>C | CA409646951 | KCNQ2 | c.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) | |
20 | g.63415122T>G | CA409646954 | KCNQ2 | c.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) | |
20 | g.63415123C>A | CA409646956 | KCNQ2 | c.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) | |
20 | g.63415123C>G | CA409646959 | KCNQ2 | c.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 |
20 | g.63415123C>T | CA511339649 | KCNQ2 | c.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=) | |
20 | g.63415124T>A | CA409646961 | KCNQ2 | c.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) | |
20 | g.63415124T>C | CA409646967 | KCNQ2 | c.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 |
20 | g.63415124T>G | CA409646970 | KCNQ2 | c.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) | |
20 | g.63415124T= | CA2374778866 | KCNQ2 | c.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=) | |
20 | g.63415125G>A | CA409646974 | KCNQ2 | c.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 |
20 | g.63415125G>C | CA409646978 | KCNQ2 | c.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) | |
20 | g.63415125G= | CA2374778867 | KCNQ2 | c.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=) | |
20 | g.63415125G>T | CA409646981 | KCNQ2 | c.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 |
20 | g.63415126G>A | CA511339653 | KCNQ2 | c.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 |
20 | g.63415126G>C | CA409646983 | KCNQ2 | c.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) | |
20 | g.63415126G>T | CA409646984 | KCNQ2 | c.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 |
20 | g.63415127C>A | CA409646993 | KCNQ2 | c.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 |
20 | g.63415127C= | CA2374778868 | KCNQ2 | c.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=) | |
20 | g.63415127C>G | CA342545 | KCNQ2 | c.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 |
20 | g.63415127C>T | CA409646987 | KCNQ2 | c.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 |
20 | g.63415128T>A | CA409646998 | KCNQ2 | c.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) | |
20 | g.63415128T>C | CA409646996 | KCNQ2 | c.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) | |
20 | g.63415128T>G | CA409647001 | KCNQ2 | c.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) | |
20 | g.63415129G>A | CA2653800782 | KCNQ2 | c.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 |
20 | g.63415129G>T | CA2653800781 | KCNQ2 | c.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 |
20 | g.63415130C>A | CA2653800783 | KCNQ2 | c.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 |
20 | g.63415130C= | CA2374778869 | KCNQ2 | c.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=) | |
20 | g.63415130C>T | CA317431185 | KCNQ2 | c.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 |
20 | g.63415132C= | CA2374778870 | KCNQ2 | c.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=) | |
20 | g.63415132C>G | CA2739277259 | KCNQ2 | c.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 |
20 | g.63415132C>T | CA9958477 | KCNQ2 | c.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 |
20 | g.63415133C>A | CA636614197 | KCNQ2 | c.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 |
20 | g.63415133C= | CA2374778871 | KCNQ2 | c.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=) | |
20 | g.63415134C>A | CA636614198 | KCNQ2 | c.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 |
20 | g.63415134C= | CA2374778872 | KCNQ2 | c.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=) | |
20 | g.63415134C>G | CA2653800788 | KCNQ2 | c.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 |
20 | g.63415134C>T | CA636614199 | KCNQ2 | c.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 |
20 | g.63415135A>G | CA2563772450 | KCNQ2 | c.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) | |
20 | g.63415136C= | CA2374778873 | KCNQ2 | c.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=) | |
20 | g.63415136C>T | CA9958478 | KCNQ2 | c.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 |
20 | g.63415137G>A | CA291794 | KCNQ2 | c.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 |
20 | g.63415137G>C | CA291793 | KCNQ2 | c.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 |
20 | g.63415137G= | CA2374778874 | KCNQ2 | c.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=) | |
20 | g.63415137G>T | CA2653800792 | KCNQ2 | c.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 |
20 | g.63415138G>A | CA636614200 | KCNQ2 | c.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 |
20 | g.63415138G>C | CA2577453667 | KCNQ2 | c.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) | |
20 | g.63415138G= | CA2374778875 | KCNQ2 | c.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=) | |
20 | g.63415138G>T | CA2653800796 | KCNQ2 | c.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 |
20 | g.63415139G>A | CA636614201 | KCNQ2 | c.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 |
20 | g.63415139G= | CA2374778876 | KCNQ2 | c.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=) | |
20 | g.63415139G>T | CA1019278061 | KCNQ2 | c.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 |
20 | g.63415140A= | CA2374778877 | KCNQ2 | c.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=) |