| 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 | |
| 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.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=) | 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) |