UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.63415021G>A | CA9958460 | KCNQ2 | c.1353C>T (p.Ala451=) c.1407C>T (p.Ala469=) c.804C>T (p.Ala268=) c.1317C>T (p.Ala439=) c.975C>T (p.Ala325=) c.1323C>T (p.Ala441=) c.1287C>T (p.Ala429=) c.467C>T c.15C>T (p.Ala5=) c.1377C>T (p.Ala459=) c.1281C>T (p.Ala427=) c.888C>T (p.Ala296=) c.1284C>T (p.Ala428=) c.315C>T (p.Ala105=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63415021G>C | CA511339724 | KCNQ2 | c.1353C>G (p.Ala451=) c.1407C>G (p.Ala469=) c.804C>G (p.Ala268=) c.1317C>G (p.Ala439=) c.975C>G (p.Ala325=) c.1323C>G (p.Ala441=) c.1287C>G (p.Ala429=) c.467C>G c.15C>G (p.Ala5=) c.1377C>G (p.Ala459=) c.1281C>G (p.Ala427=) c.888C>G (p.Ala296=) c.1284C>G (p.Ala428=) c.315C>G (p.Ala105=) | |
| 20 | g.63415021G= | CA2374778813 | KCNQ2 | c.1353C= (p.Ala451=) c.1407C= (p.Ala469=) c.804C= (p.Ala268=) c.1317C= (p.Ala439=) c.975C= (p.Ala325=) c.1323C= (p.Ala441=) c.1287C= (p.Ala429=) c.467C= c.15C= (p.Ala5=) c.1377C= (p.Ala459=) c.1281C= (p.Ala427=) c.888C= (p.Ala296=) c.1284C= (p.Ala428=) c.315C= (p.Ala105=) | |
| 20 | g.63415021G>T | CA511339726 | KCNQ2 | c.1353C>A (p.Ala451=) c.1407C>A (p.Ala469=) c.804C>A (p.Ala268=) c.1317C>A (p.Ala439=) c.975C>A (p.Ala325=) c.1323C>A (p.Ala441=) c.1287C>A (p.Ala429=) c.467C>A c.15C>A (p.Ala5=) c.1377C>A (p.Ala459=) c.1281C>A (p.Ala427=) c.888C>A (p.Ala296=) c.1284C>A (p.Ala428=) c.315C>A (p.Ala105=) | |
| 20 | g.63415022G>A | CA409646653 | KCNQ2 | c.1352C>T (p.Ala451Val) c.1406C>T (p.Ala469Val) c.803C>T (p.Ala268Val) c.1316C>T (p.Ala439Val) c.974C>T (p.Ala325Val) c.1322C>T (p.Ala441Val) c.1286C>T (p.Ala429Val) c.466C>T c.14C>T (p.Ala5Val) c.1376C>T (p.Ala459Val) c.1280C>T (p.Ala427Val) c.887C>T (p.Ala296Val) c.1283C>T (p.Ala428Val) c.314C>T (p.Ala105Val) | |
| 20 | g.63415022G>C | CA409646654 | KCNQ2 | c.1352C>G (p.Ala451Gly) c.1406C>G (p.Ala469Gly) c.803C>G (p.Ala268Gly) c.1316C>G (p.Ala439Gly) c.974C>G (p.Ala325Gly) c.1322C>G (p.Ala441Gly) c.1286C>G (p.Ala429Gly) c.466C>G c.14C>G (p.Ala5Gly) c.1376C>G (p.Ala459Gly) c.1280C>G (p.Ala427Gly) c.887C>G (p.Ala296Gly) c.1283C>G (p.Ala428Gly) c.314C>G (p.Ala105Gly) | |
| 20 | g.63415022G>T | CA409646655 | KCNQ2 | c.1352C>A (p.Ala451Asp) c.1406C>A (p.Ala469Asp) c.803C>A (p.Ala268Asp) c.1316C>A (p.Ala439Asp) c.974C>A (p.Ala325Asp) c.1322C>A (p.Ala441Asp) c.1286C>A (p.Ala429Asp) c.466C>A c.14C>A (p.Ala5Asp) c.1376C>A (p.Ala459Asp) c.1280C>A (p.Ala427Asp) c.887C>A (p.Ala296Asp) c.1283C>A (p.Ala428Asp) c.314C>A (p.Ala105Asp) | |
| 20 | g.63415023C>A | CA409646656 | KCNQ2 | c.1351G>T (p.Ala451Ser) c.1405G>T (p.Ala469Ser) c.802G>T (p.Ala268Ser) c.1315G>T (p.Ala439Ser) c.973G>T (p.Ala325Ser) c.1321G>T (p.Ala441Ser) c.1285G>T (p.Ala429Ser) c.465G>T c.13G>T (p.Ala5Ser) c.1375G>T (p.Ala459Ser) c.1279G>T (p.Ala427Ser) c.886G>T (p.Ala296Ser) c.1282G>T (p.Ala428Ser) c.313G>T (p.Ala105Ser) | |
| 20 | g.63415023C= | CA2374778814 | KCNQ2 | c.1351G= (p.Ala451=) c.1405G= (p.Ala469=) c.802G= (p.Ala268=) c.1315G= (p.Ala439=) c.973G= (p.Ala325=) c.1321G= (p.Ala441=) c.1285G= (p.Ala429=) c.465G= c.13G= (p.Ala5=) c.1375G= (p.Ala459=) c.1279G= (p.Ala427=) c.886G= (p.Ala296=) c.1282G= (p.Ala428=) c.313G= (p.Ala105=) | |
| 20 | g.63415023C>G | CA409646657 | KCNQ2 | c.1351G>C (p.Ala451Pro) c.1405G>C (p.Ala469Pro) c.802G>C (p.Ala268Pro) c.1315G>C (p.Ala439Pro) c.973G>C (p.Ala325Pro) c.1321G>C (p.Ala441Pro) c.1285G>C (p.Ala429Pro) c.465G>C c.13G>C (p.Ala5Pro) c.1375G>C (p.Ala459Pro) c.1279G>C (p.Ala427Pro) c.886G>C (p.Ala296Pro) c.1282G>C (p.Ala428Pro) c.313G>C (p.Ala105Pro) | |
| 20 | g.63415023C>T | CA315445 | KCNQ2 | c.1351G>A (p.Ala451Thr) c.1405G>A (p.Ala469Thr) c.802G>A (p.Ala268Thr) c.1315G>A (p.Ala439Thr) c.973G>A (p.Ala325Thr) c.1321G>A (p.Ala441Thr) c.1285G>A (p.Ala429Thr) c.465G>A c.13G>A (p.Ala5Thr) c.1375G>A (p.Ala459Thr) c.1279G>A (p.Ala427Thr) c.886G>A (p.Ala296Thr) c.1282G>A (p.Ala428Thr) c.313G>A (p.Ala105Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63415024G>A | CA9958461 | KCNQ2 | c.1350C>T (p.Ser450=) c.1404C>T (p.Ser468=) c.801C>T (p.Ser267=) c.1314C>T (p.Ser438=) c.972C>T (p.Ser324=) c.1320C>T (p.Ser440=) c.1284C>T (p.Ser428=) c.464C>T c.12C>T (p.Ser4=) c.1374C>T (p.Ser458=) c.1278C>T (p.Ser426=) c.885C>T (p.Ser295=) c.1281C>T (p.Ser427=) c.312C>T (p.Ser104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63415024G>C | CA409646658 | KCNQ2 | c.1350C>G (p.Ser450Arg) c.1404C>G (p.Ser468Arg) c.801C>G (p.Ser267Arg) c.1314C>G (p.Ser438Arg) c.972C>G (p.Ser324Arg) c.1320C>G (p.Ser440Arg) c.1284C>G (p.Ser428Arg) c.464C>G c.12C>G (p.Ser4Arg) c.1374C>G (p.Ser458Arg) c.1278C>G (p.Ser426Arg) c.885C>G (p.Ser295Arg) c.1281C>G (p.Ser427Arg) c.312C>G (p.Ser104Arg) | |
| 20 | g.63415024G= | CA2374778815 | KCNQ2 | c.1350C= (p.Ser450=) c.1404C= (p.Ser468=) c.801C= (p.Ser267=) c.1314C= (p.Ser438=) c.972C= (p.Ser324=) c.1320C= (p.Ser440=) c.1284C= (p.Ser428=) c.464C= c.12C= (p.Ser4=) c.1374C= (p.Ser458=) c.1278C= (p.Ser426=) c.885C= (p.Ser295=) c.1281C= (p.Ser427=) c.312C= (p.Ser104=) | |
| 20 | g.63415024G>T | CA409646659 | KCNQ2 | c.1350C>A (p.Ser450Arg) c.1404C>A (p.Ser468Arg) c.801C>A (p.Ser267Arg) c.1314C>A (p.Ser438Arg) c.972C>A (p.Ser324Arg) c.1320C>A (p.Ser440Arg) c.1284C>A (p.Ser428Arg) c.464C>A c.12C>A (p.Ser4Arg) c.1374C>A (p.Ser458Arg) c.1278C>A (p.Ser426Arg) c.885C>A (p.Ser295Arg) c.1281C>A (p.Ser427Arg) c.312C>A (p.Ser104Arg) | gnomAD v4 |
| 20 | g.63415025C>A | CA409646660 | KCNQ2 | c.1349G>T (p.Ser450Ile) c.1403G>T (p.Ser468Ile) c.800G>T (p.Ser267Ile) c.1313G>T (p.Ser438Ile) c.971G>T (p.Ser324Ile) c.1319G>T (p.Ser440Ile) c.1283G>T (p.Ser428Ile) c.463G>T c.11G>T (p.Ser4Ile) c.1373G>T (p.Ser458Ile) c.1277G>T (p.Ser426Ile) c.884G>T (p.Ser295Ile) c.1280G>T (p.Ser427Ile) c.311G>T (p.Ser104Ile) | |
| 20 | g.63415025C>G | CA409646662 | KCNQ2 | c.1349G>C (p.Ser450Thr) c.1403G>C (p.Ser468Thr) c.800G>C (p.Ser267Thr) c.1313G>C (p.Ser438Thr) c.971G>C (p.Ser324Thr) c.1319G>C (p.Ser440Thr) c.1283G>C (p.Ser428Thr) c.463G>C c.11G>C (p.Ser4Thr) c.1373G>C (p.Ser458Thr) c.1277G>C (p.Ser426Thr) c.884G>C (p.Ser295Thr) c.1280G>C (p.Ser427Thr) c.311G>C (p.Ser104Thr) | |
| 20 | g.63415025C>T | CA409646661 | KCNQ2 | c.1349G>A (p.Ser450Asn) c.1403G>A (p.Ser468Asn) c.800G>A (p.Ser267Asn) c.1313G>A (p.Ser438Asn) c.971G>A (p.Ser324Asn) c.1319G>A (p.Ser440Asn) c.1283G>A (p.Ser428Asn) c.463G>A c.11G>A (p.Ser4Asn) c.1373G>A (p.Ser458Asn) c.1277G>A (p.Ser426Asn) c.884G>A (p.Ser295Asn) c.1280G>A (p.Ser427Asn) c.311G>A (p.Ser104Asn) | |
| 20 | g.63415025dup | CA2697547458 | KCNQ2 | c.1349dup (p.Ser450ArgfsTer?) c.1403dup (p.Ser468ArgfsTer?) c.800dup (p.Ser267ArgfsTer?) c.1313dup (p.Ser438ArgfsTer?) c.971dup (p.Ser324ArgfsTer?) c.1319dup (p.Ser440ArgfsTer?) c.1283dup (p.Ser428ArgfsTer?) c.463dup c.11dup (p.Ser4ArgfsTer?) c.1373dup (p.Ser458ArgfsTer?) c.1277dup (p.Ser426ArgfsTer?) c.884dup (p.Ser295ArgfsTer?) c.1280dup (p.Ser427ArgfsTer?) c.311dup (p.Ser104ArgfsTer?) | ClinVar |
| 20 | g.63415026T>A | CA409646663 | KCNQ2 | c.1348A>T (p.Ser450Cys) c.1402A>T (p.Ser468Cys) c.799A>T (p.Ser267Cys) c.1312A>T (p.Ser438Cys) c.970A>T (p.Ser324Cys) c.1318A>T (p.Ser440Cys) c.1282A>T (p.Ser428Cys) c.462A>T c.10A>T (p.Ser4Cys) c.1372A>T (p.Ser458Cys) c.1276A>T (p.Ser426Cys) c.883A>T (p.Ser295Cys) c.1279A>T (p.Ser427Cys) c.310A>T (p.Ser104Cys) | |
| 20 | g.63415026T>C | CA409646664 | KCNQ2 | c.1348A>G (p.Ser450Gly) c.1402A>G (p.Ser468Gly) c.799A>G (p.Ser267Gly) c.1312A>G (p.Ser438Gly) c.970A>G (p.Ser324Gly) c.1318A>G (p.Ser440Gly) c.1282A>G (p.Ser428Gly) c.462A>G c.10A>G (p.Ser4Gly) c.1372A>G (p.Ser458Gly) c.1276A>G (p.Ser426Gly) c.883A>G (p.Ser295Gly) c.1279A>G (p.Ser427Gly) c.310A>G (p.Ser104Gly) | |
| 20 | g.63415026T>G | CA409646665 | KCNQ2 | c.1348A>C (p.Ser450Arg) c.1402A>C (p.Ser468Arg) c.799A>C (p.Ser267Arg) c.1312A>C (p.Ser438Arg) c.970A>C (p.Ser324Arg) c.1318A>C (p.Ser440Arg) c.1282A>C (p.Ser428Arg) c.462A>C c.10A>C (p.Ser4Arg) c.1372A>C (p.Ser458Arg) c.1276A>C (p.Ser426Arg) c.883A>C (p.Ser295Arg) c.1279A>C (p.Ser427Arg) c.310A>C (p.Ser104Arg) | |
| 20 | g.63415027G>A | CA511339731 | KCNQ2 | c.1347C>T (p.Pro449=) c.1401C>T (p.Pro467=) c.798C>T (p.Pro266=) c.1311C>T (p.Pro437=) c.969C>T (p.Pro323=) c.1317C>T (p.Pro439=) c.1281C>T (p.Pro427=) c.461C>T c.9C>T (p.Pro3=) c.1371C>T (p.Pro457=) c.1275C>T (p.Pro425=) c.882C>T (p.Pro294=) c.1278C>T (p.Pro426=) c.309C>T (p.Pro103=) | gnomAD v4 |
| 20 | g.63415027G>C | CA511339730 | KCNQ2 | c.1347C>G (p.Pro449=) c.1401C>G (p.Pro467=) c.798C>G (p.Pro266=) c.1311C>G (p.Pro437=) c.969C>G (p.Pro323=) c.1317C>G (p.Pro439=) c.1281C>G (p.Pro427=) c.461C>G c.9C>G (p.Pro3=) c.1371C>G (p.Pro457=) c.1275C>G (p.Pro425=) c.882C>G (p.Pro294=) c.1278C>G (p.Pro426=) c.309C>G (p.Pro103=) | |
| 20 | g.63415027G>T | CA511339729 | KCNQ2 | c.1347C>A (p.Pro449=) c.1401C>A (p.Pro467=) c.798C>A (p.Pro266=) c.1311C>A (p.Pro437=) c.969C>A (p.Pro323=) c.1317C>A (p.Pro439=) c.1281C>A (p.Pro427=) c.461C>A c.9C>A (p.Pro3=) c.1371C>A (p.Pro457=) c.1275C>A (p.Pro425=) c.882C>A (p.Pro294=) c.1278C>A (p.Pro426=) c.309C>A (p.Pro103=) | COSMIC COSMIC COSMIC |
| 20 | g.63415029del | CA2741680547 | KCNQ2 | c.1347del (p.Ser450AlafsTer?) c.1401del (p.Ser468AlafsTer?) c.798del (p.Ser267AlafsTer?) c.1311del (p.Ser438AlafsTer?) c.969del (p.Ser324AlafsTer?) c.1317del (p.Ser440AlafsTer?) c.1281del (p.Ser428AlafsTer?) c.461del c.9del (p.Ser4AlafsTer?) c.1371del (p.Ser458AlafsTer?) c.1275del (p.Ser426AlafsTer?) c.882del (p.Ser295AlafsTer?) c.1278del (p.Ser427AlafsTer?) c.309del (p.Ser104AlafsTer?) | |
| 20 | g.63415028G>A | CA409646666 | KCNQ2 | c.1346C>T (p.Pro449Leu) c.1400C>T (p.Pro467Leu) c.797C>T (p.Pro266Leu) c.1310C>T (p.Pro437Leu) c.968C>T (p.Pro323Leu) c.1316C>T (p.Pro439Leu) c.1280C>T (p.Pro427Leu) c.460C>T c.8C>T (p.Pro3Leu) c.1370C>T (p.Pro457Leu) c.1274C>T (p.Pro425Leu) c.881C>T (p.Pro294Leu) c.1277C>T (p.Pro426Leu) c.308C>T (p.Pro103Leu) | |
| 20 | g.63415028G>C | CA409646667 | KCNQ2 | c.1346C>G (p.Pro449Arg) c.1400C>G (p.Pro467Arg) c.797C>G (p.Pro266Arg) c.1310C>G (p.Pro437Arg) c.968C>G (p.Pro323Arg) c.1316C>G (p.Pro439Arg) c.1280C>G (p.Pro427Arg) c.460C>G c.8C>G (p.Pro3Arg) c.1370C>G (p.Pro457Arg) c.1274C>G (p.Pro425Arg) c.881C>G (p.Pro294Arg) c.1277C>G (p.Pro426Arg) c.308C>G (p.Pro103Arg) | |
| 20 | g.63415028G>T | CA409646668 | KCNQ2 | c.1346C>A (p.Pro449His) c.1400C>A (p.Pro467His) c.797C>A (p.Pro266His) c.1310C>A (p.Pro437His) c.968C>A (p.Pro323His) c.1316C>A (p.Pro439His) c.1280C>A (p.Pro427His) c.460C>A c.8C>A (p.Pro3His) c.1370C>A (p.Pro457His) c.1274C>A (p.Pro425His) c.881C>A (p.Pro294His) c.1277C>A (p.Pro426His) c.308C>A (p.Pro103His) | |
| 20 | g.63415029G>A | CA409646669 | KCNQ2 | c.1345C>T (p.Pro449Ser) c.1399C>T (p.Pro467Ser) c.796C>T (p.Pro266Ser) c.1309C>T (p.Pro437Ser) c.967C>T (p.Pro323Ser) c.1315C>T (p.Pro439Ser) c.1279C>T (p.Pro427Ser) c.459C>T c.7C>T (p.Pro3Ser) c.1369C>T (p.Pro457Ser) c.1273C>T (p.Pro425Ser) c.880C>T (p.Pro294Ser) c.1276C>T (p.Pro426Ser) c.307C>T (p.Pro103Ser) | |
| 20 | g.63415029G>C | CA409646670 | KCNQ2 | c.1345C>G (p.Pro449Ala) c.1399C>G (p.Pro467Ala) c.796C>G (p.Pro266Ala) c.1309C>G (p.Pro437Ala) c.967C>G (p.Pro323Ala) c.1315C>G (p.Pro439Ala) c.1279C>G (p.Pro427Ala) c.459C>G c.7C>G (p.Pro3Ala) c.1369C>G (p.Pro457Ala) c.1273C>G (p.Pro425Ala) c.880C>G (p.Pro294Ala) c.1276C>G (p.Pro426Ala) c.307C>G (p.Pro103Ala) | |
| 20 | g.63415029G>T | CA409646671 | KCNQ2 | c.1345C>A (p.Pro449Thr) c.1399C>A (p.Pro467Thr) c.796C>A (p.Pro266Thr) c.1309C>A (p.Pro437Thr) c.967C>A (p.Pro323Thr) c.1315C>A (p.Pro439Thr) c.1279C>A (p.Pro427Thr) c.459C>A c.7C>A (p.Pro3Thr) c.1369C>A (p.Pro457Thr) c.1273C>A (p.Pro425Thr) c.880C>A (p.Pro294Thr) c.1276C>A (p.Pro426Thr) c.307C>A (p.Pro103Thr) | |
| 20 | g.63415030T>A | CA511339734 | KCNQ2 | c.1344A>T (p.Ser448=) c.1398A>T (p.Ser466=) c.795A>T (p.Ser265=) c.1308A>T (p.Ser436=) c.966A>T (p.Ser322=) c.1314A>T (p.Ser438=) c.1278A>T (p.Ser426=) c.458A>T c.6A>T (p.Ser2=) c.1368A>T (p.Ser456=) c.1272A>T (p.Ser424=) c.879A>T (p.Ser293=) c.1275A>T (p.Ser425=) c.306A>T (p.Ser102=) | |
| 20 | g.63415030T>C | CA511339735 | KCNQ2 | c.1344A>G (p.Ser448=) c.1398A>G (p.Ser466=) c.795A>G (p.Ser265=) c.1308A>G (p.Ser436=) c.966A>G (p.Ser322=) c.1314A>G (p.Ser438=) c.1278A>G (p.Ser426=) c.458A>G c.6A>G (p.Ser2=) c.1368A>G (p.Ser456=) c.1272A>G (p.Ser424=) c.879A>G (p.Ser293=) c.1275A>G (p.Ser425=) c.306A>G (p.Ser102=) | |
| 20 | g.63415030T>G | CA511339736 | KCNQ2 | c.1344A>C (p.Ser448=) c.1398A>C (p.Ser466=) c.795A>C (p.Ser265=) c.1308A>C (p.Ser436=) c.966A>C (p.Ser322=) c.1314A>C (p.Ser438=) c.1278A>C (p.Ser426=) c.458A>C c.6A>C (p.Ser2=) c.1368A>C (p.Ser456=) c.1272A>C (p.Ser424=) c.879A>C (p.Ser293=) c.1275A>C (p.Ser425=) c.306A>C (p.Ser102=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63415030T= | CA2374778816 | KCNQ2 | c.1344A= (p.Ser448=) c.1398A= (p.Ser466=) c.795A= (p.Ser265=) c.1308A= (p.Ser436=) c.966A= (p.Ser322=) c.1314A= (p.Ser438=) c.1278A= (p.Ser426=) c.458A= c.6A= (p.Ser2=) c.1368A= (p.Ser456=) c.1272A= (p.Ser424=) c.879A= (p.Ser293=) c.1275A= (p.Ser425=) c.306A= (p.Ser102=) | |
| 20 | g.63415031G>A | CA409646674 | KCNQ2 | c.1343C>T (p.Ser448Leu) c.1397C>T (p.Ser466Leu) c.794C>T (p.Ser265Leu) c.1307C>T (p.Ser436Leu) c.965C>T (p.Ser322Leu) c.1313C>T (p.Ser438Leu) c.1277C>T (p.Ser426Leu) c.457C>T c.5C>T (p.Ser2Leu) c.1367C>T (p.Ser456Leu) c.1271C>T (p.Ser424Leu) c.878C>T (p.Ser293Leu) c.1274C>T (p.Ser425Leu) c.305C>T (p.Ser102Leu) | |
| 20 | g.63415031G>C | CA409646673 | KCNQ2 | c.1343C>G (p.Ser448Ter) c.1397C>G (p.Ser466Ter) c.794C>G (p.Ser265Ter) c.1307C>G (p.Ser436Ter) c.965C>G (p.Ser322Ter) c.1313C>G (p.Ser438Ter) c.1277C>G (p.Ser426Ter) c.457C>G c.5C>G (p.Ser2Ter) c.1367C>G (p.Ser456Ter) c.1271C>G (p.Ser424Ter) c.878C>G (p.Ser293Ter) c.1274C>G (p.Ser425Ter) c.305C>G (p.Ser102Ter) | |
| 20 | g.63415031G>T | CA409646672 | KCNQ2 | c.1343C>A (p.Ser448Ter) c.1397C>A (p.Ser466Ter) c.794C>A (p.Ser265Ter) c.1307C>A (p.Ser436Ter) c.965C>A (p.Ser322Ter) c.1313C>A (p.Ser438Ter) c.1277C>A (p.Ser426Ter) c.457C>A c.5C>A (p.Ser2Ter) c.1367C>A (p.Ser456Ter) c.1271C>A (p.Ser424Ter) c.878C>A (p.Ser293Ter) c.1274C>A (p.Ser425Ter) c.305C>A (p.Ser102Ter) | gnomAD v4 |
| 20 | g.63415032A= | CA2374778817 | KCNQ2 | c.1342T= (p.Ser448=) c.1396T= (p.Ser466=) c.793T= (p.Ser265=) c.1306T= (p.Ser436=) c.964T= (p.Ser322=) c.1312T= (p.Ser438=) c.1276T= (p.Ser426=) c.456T= c.4T= (p.Ser2=) c.1366T= (p.Ser456=) c.1270T= (p.Ser424=) c.877T= (p.Ser293=) c.1273T= (p.Ser425=) c.304T= (p.Ser102=) | |
| 20 | g.63415032A>C | CA409646675 | KCNQ2 | c.1342T>G (p.Ser448Ala) c.1396T>G (p.Ser466Ala) c.793T>G (p.Ser265Ala) c.1306T>G (p.Ser436Ala) c.964T>G (p.Ser322Ala) c.1312T>G (p.Ser438Ala) c.1276T>G (p.Ser426Ala) c.456T>G c.4T>G (p.Ser2Ala) c.1366T>G (p.Ser456Ala) c.1270T>G (p.Ser424Ala) c.877T>G (p.Ser293Ala) c.1273T>G (p.Ser425Ala) c.304T>G (p.Ser102Ala) | dbSNP |
| 20 | g.63415032A>G | CA409646676 | KCNQ2 | c.1342T>C (p.Ser448Pro) c.1396T>C (p.Ser466Pro) c.793T>C (p.Ser265Pro) c.1306T>C (p.Ser436Pro) c.964T>C (p.Ser322Pro) c.1312T>C (p.Ser438Pro) c.1276T>C (p.Ser426Pro) c.456T>C c.4T>C (p.Ser2Pro) c.1366T>C (p.Ser456Pro) c.1270T>C (p.Ser424Pro) c.877T>C (p.Ser293Pro) c.1273T>C (p.Ser425Pro) c.304T>C (p.Ser102Pro) | |
| 20 | g.63415032A>T | CA409646677 | KCNQ2 | c.1342T>A (p.Ser448Thr) c.1396T>A (p.Ser466Thr) c.793T>A (p.Ser265Thr) c.1306T>A (p.Ser436Thr) c.964T>A (p.Ser322Thr) c.1312T>A (p.Ser438Thr) c.1276T>A (p.Ser426Thr) c.456T>A c.4T>A (p.Ser2Thr) c.1366T>A (p.Ser456Thr) c.1270T>A (p.Ser424Thr) c.877T>A (p.Ser293Thr) c.1273T>A (p.Ser425Thr) c.304T>A (p.Ser102Thr) | |
| 20 | g.63415033C>A | CA511339738 | KCNQ2 | c.1341G>T (p.Arg447=) c.1395G>T (p.Arg465=) c.792G>T (p.Arg264=) c.1305G>T (p.Arg435=) c.963G>T (p.Arg321=) c.1311G>T (p.Arg437=) c.1275G>T (p.Arg425=) c.455G>T c.3G>T (p.Arg1=) c.1365G>T (p.Arg455=) c.1269G>T (p.Arg423=) c.876G>T (p.Arg292=) c.1272G>T (p.Arg424=) c.303G>T (p.Arg101=) | |
| 20 | g.63415033C>G | CA511339740 | KCNQ2 | c.1341G>C (p.Arg447=) c.1395G>C (p.Arg465=) c.792G>C (p.Arg264=) c.1305G>C (p.Arg435=) c.963G>C (p.Arg321=) c.1311G>C (p.Arg437=) c.1275G>C (p.Arg425=) c.455G>C c.3G>C (p.Arg1=) c.1365G>C (p.Arg455=) c.1269G>C (p.Arg423=) c.876G>C (p.Arg292=) c.1272G>C (p.Arg424=) c.303G>C (p.Arg101=) | |
| 20 | g.63415033C>T | CA511339739 | KCNQ2 | c.1341G>A (p.Arg447=) c.1395G>A (p.Arg465=) c.792G>A (p.Arg264=) c.1305G>A (p.Arg435=) c.963G>A (p.Arg321=) c.1311G>A (p.Arg437=) c.1275G>A (p.Arg425=) c.455G>A c.3G>A (p.Arg1=) c.1365G>A (p.Arg455=) c.1269G>A (p.Arg423=) c.876G>A (p.Arg292=) c.1272G>A (p.Arg424=) c.303G>A (p.Arg101=) | gnomAD v4 |
| 20 | g.63415034del | CA2695230083 | KCNQ2 | c.1341del (p.Ser448HisfsTer?) c.1395del (p.Ser466HisfsTer?) c.792del (p.Ser265HisfsTer?) c.1305del (p.Ser436HisfsTer?) c.963del (p.Ser322HisfsTer?) c.1311del (p.Ser438HisfsTer?) c.1275del (p.Ser426HisfsTer?) c.455del c.3del (p.Ser2HisfsTer?) c.1365del (p.Ser456HisfsTer?) c.1269del (p.Ser424HisfsTer?) c.876del (p.Ser293HisfsTer?) c.1272del (p.Ser425HisfsTer?) c.303del (p.Ser102HisfsTer?) | |
| 20 | g.63415034C>A | CA409646678 | KCNQ2 | c.1340G>T (p.Arg447Leu) c.1394G>T (p.Arg465Leu) c.791G>T (p.Arg264Leu) c.1304G>T (p.Arg435Leu) c.962G>T (p.Arg321Leu) c.1310G>T (p.Arg437Leu) c.1274G>T (p.Arg425Leu) c.454G>T c.2G>T (p.Arg1Leu) c.1364G>T (p.Arg455Leu) c.1268G>T (p.Arg423Leu) c.875G>T (p.Arg292Leu) c.1271G>T (p.Arg424Leu) c.302G>T (p.Arg101Leu) | |
| 20 | g.63415034C= | CA2374778818 | KCNQ2 | c.1340G= (p.Arg447=) c.1394G= (p.Arg465=) c.791G= (p.Arg264=) c.1304G= (p.Arg435=) c.962G= (p.Arg321=) c.1310G= (p.Arg437=) c.1274G= (p.Arg425=) c.454G= c.2G= (p.Arg1=) c.1364G= (p.Arg455=) c.1268G= (p.Arg423=) c.875G= (p.Arg292=) c.1271G= (p.Arg424=) c.302G= (p.Arg101=) |