WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.63414991C>A | CA409646527 | KCNQ2 | c.1383G>T (p.Lys461Asn) c.1437G>T (p.Lys479Asn) c.834G>T (p.Lys278Asn) c.1347G>T (p.Lys449Asn) c.1005G>T (p.Lys335Asn) c.1353G>T (p.Lys451Asn) c.1317G>T (p.Lys439Asn) c.497G>T c.45G>T (p.Lys15Asn) c.1407G>T (p.Lys469Asn) c.1311G>T (p.Lys437Asn) c.918G>T (p.Lys306Asn) c.1314G>T (p.Lys438Asn) c.345G>T (p.Lys115Asn) | |
| 20 | g.63414991C= | CA2374778801 | KCNQ2 | c.1383G= (p.Lys461=) c.1437G= (p.Lys479=) c.834G= (p.Lys278=) c.1347G= (p.Lys449=) c.1005G= (p.Lys335=) c.1353G= (p.Lys451=) c.1317G= (p.Lys439=) c.497G= c.45G= (p.Lys15=) c.1407G= (p.Lys469=) c.1311G= (p.Lys437=) c.918G= (p.Lys306=) c.1314G= (p.Lys438=) c.345G= (p.Lys115=) | |
| 20 | g.63414991C>G | CA409646530 | KCNQ2 | c.1383G>C (p.Lys461Asn) c.1437G>C (p.Lys479Asn) c.834G>C (p.Lys278Asn) c.1347G>C (p.Lys449Asn) c.1005G>C (p.Lys335Asn) c.1353G>C (p.Lys451Asn) c.1317G>C (p.Lys439Asn) c.497G>C c.45G>C (p.Lys15Asn) c.1407G>C (p.Lys469Asn) c.1311G>C (p.Lys437Asn) c.918G>C (p.Lys306Asn) c.1314G>C (p.Lys438Asn) c.345G>C (p.Lys115Asn) | dbSNP |
| 20 | g.63414991C>T | CA511339710 | KCNQ2 | c.1383G>A (p.Lys461=) c.1437G>A (p.Lys479=) c.834G>A (p.Lys278=) c.1347G>A (p.Lys449=) c.1005G>A (p.Lys335=) c.1353G>A (p.Lys451=) c.1317G>A (p.Lys439=) c.497G>A c.45G>A (p.Lys15=) c.1407G>A (p.Lys469=) c.1311G>A (p.Lys437=) c.918G>A (p.Lys306=) c.1314G>A (p.Lys438=) c.345G>A (p.Lys115=) | ClinVar dbSNP |
| 20 | g.63414992T>A | CA409646533 | KCNQ2 | c.1382A>T (p.Lys461Met) c.1436A>T (p.Lys479Met) c.833A>T (p.Lys278Met) c.1346A>T (p.Lys449Met) c.1004A>T (p.Lys335Met) c.1352A>T (p.Lys451Met) c.1316A>T (p.Lys439Met) c.496A>T c.44A>T (p.Lys15Met) c.1406A>T (p.Lys469Met) c.1310A>T (p.Lys437Met) c.917A>T (p.Lys306Met) c.1313A>T (p.Lys438Met) c.344A>T (p.Lys115Met) | |
| 20 | g.63414992T>C | CA409646536 | KCNQ2 | c.1382A>G (p.Lys461Arg) c.1436A>G (p.Lys479Arg) c.833A>G (p.Lys278Arg) c.1346A>G (p.Lys449Arg) c.1004A>G (p.Lys335Arg) c.1352A>G (p.Lys451Arg) c.1316A>G (p.Lys439Arg) c.496A>G c.44A>G (p.Lys15Arg) c.1406A>G (p.Lys469Arg) c.1310A>G (p.Lys437Arg) c.917A>G (p.Lys306Arg) c.1313A>G (p.Lys438Arg) c.344A>G (p.Lys115Arg) | |
| 20 | g.63414992T>G | CA409646539 | KCNQ2 | c.1382A>C (p.Lys461Thr) c.1436A>C (p.Lys479Thr) c.833A>C (p.Lys278Thr) c.1346A>C (p.Lys449Thr) c.1004A>C (p.Lys335Thr) c.1352A>C (p.Lys451Thr) c.1316A>C (p.Lys439Thr) c.496A>C c.44A>C (p.Lys15Thr) c.1406A>C (p.Lys469Thr) c.1310A>C (p.Lys437Thr) c.917A>C (p.Lys306Thr) c.1313A>C (p.Lys438Thr) c.344A>C (p.Lys115Thr) | |
| 20 | g.63414993T>A | CA409646544 | KCNQ2 | c.1381A>T (p.Lys461Ter) c.1435A>T (p.Lys479Ter) c.832A>T (p.Lys278Ter) c.1345A>T (p.Lys449Ter) c.1003A>T (p.Lys335Ter) c.1351A>T (p.Lys451Ter) c.1315A>T (p.Lys439Ter) c.495A>T c.43A>T (p.Lys15Ter) c.1405A>T (p.Lys469Ter) c.1309A>T (p.Lys437Ter) c.916A>T (p.Lys306Ter) c.1312A>T (p.Lys438Ter) c.343A>T (p.Lys115Ter) | |
| 20 | g.63414993T>C | CA409646546 | KCNQ2 | c.1381A>G (p.Lys461Glu) c.1435A>G (p.Lys479Glu) c.832A>G (p.Lys278Glu) c.1345A>G (p.Lys449Glu) c.1003A>G (p.Lys335Glu) c.1351A>G (p.Lys451Glu) c.1315A>G (p.Lys439Glu) c.495A>G c.43A>G (p.Lys15Glu) c.1405A>G (p.Lys469Glu) c.1309A>G (p.Lys437Glu) c.916A>G (p.Lys306Glu) c.1312A>G (p.Lys438Glu) c.343A>G (p.Lys115Glu) | |
| 20 | g.63414993T>G | CA409646541 | KCNQ2 | c.1381A>C (p.Lys461Gln) c.1435A>C (p.Lys479Gln) c.832A>C (p.Lys278Gln) c.1345A>C (p.Lys449Gln) c.1003A>C (p.Lys335Gln) c.1351A>C (p.Lys451Gln) c.1315A>C (p.Lys439Gln) c.495A>C c.43A>C (p.Lys15Gln) c.1405A>C (p.Lys469Gln) c.1309A>C (p.Lys437Gln) c.916A>C (p.Lys306Gln) c.1312A>C (p.Lys438Gln) c.343A>C (p.Lys115Gln) | |
| 20 | g.63414994G>A | CA511339711 | KCNQ2 | c.1380C>T (p.Ser460=) c.1434C>T (p.Ser478=) c.831C>T (p.Ser277=) c.1344C>T (p.Ser448=) c.1002C>T (p.Ser334=) c.1350C>T (p.Ser450=) c.1314C>T (p.Ser438=) c.494C>T c.42C>T (p.Ser14=) c.1404C>T (p.Ser468=) c.1308C>T (p.Ser436=) c.915C>T (p.Ser305=) c.1311C>T (p.Ser437=) c.342C>T (p.Ser114=) | |
| 20 | g.63414994G>C | CA409646551 | KCNQ2 | c.1380C>G (p.Ser460Arg) c.1434C>G (p.Ser478Arg) c.831C>G (p.Ser277Arg) c.1344C>G (p.Ser448Arg) c.1002C>G (p.Ser334Arg) c.1350C>G (p.Ser450Arg) c.1314C>G (p.Ser438Arg) c.494C>G c.42C>G (p.Ser14Arg) c.1404C>G (p.Ser468Arg) c.1308C>G (p.Ser436Arg) c.915C>G (p.Ser305Arg) c.1311C>G (p.Ser437Arg) c.342C>G (p.Ser114Arg) | |
| 20 | g.63414994G>T | CA409646550 | KCNQ2 | c.1380C>A (p.Ser460Arg) c.1434C>A (p.Ser478Arg) c.831C>A (p.Ser277Arg) c.1344C>A (p.Ser448Arg) c.1002C>A (p.Ser334Arg) c.1350C>A (p.Ser450Arg) c.1314C>A (p.Ser438Arg) c.494C>A c.42C>A (p.Ser14Arg) c.1404C>A (p.Ser468Arg) c.1308C>A (p.Ser436Arg) c.915C>A (p.Ser305Arg) c.1311C>A (p.Ser437Arg) c.342C>A (p.Ser114Arg) | |
| 20 | g.63414994_63415004delinsGCTGGGGCTGT | CA2374778802 | KCNQ2 | c.1370_1380delinsACAGCCCCAGC (p.Asp457=) c.1424_1434delinsACAGCCCCAGC (p.Asp475=) c.821_831delinsACAGCCCCAGC (p.Asp274=) c.1334_1344delinsACAGCCCCAGC (p.Asp445=) c.992_1002delinsACAGCCCCAGC (p.Asp331=) c.1340_1350delinsACAGCCCCAGC (p.Asp447=) c.1304_1314delinsACAGCCCCAGC (p.Asp435=) c.484_494delinsACAGCCCCAGC c.32_42delinsACAGCCCCAGC (p.Asp11=) c.1394_1404delinsACAGCCCCAGC (p.Asp465=) c.1298_1308delinsACAGCCCCAGC (p.Asp433=) c.905_915delinsACAGCCCCAGC (p.Asp302=) c.1301_1311delinsACAGCCCCAGC (p.Asp434=) c.332_342delinsACAGCCCCAGC (p.Asp111=) | |
| 20 | g.63414995C>A | CA409646553 | KCNQ2 | c.1379G>T (p.Ser460Ile) c.1433G>T (p.Ser478Ile) c.830G>T (p.Ser277Ile) c.1343G>T (p.Ser448Ile) c.1001G>T (p.Ser334Ile) c.1349G>T (p.Ser450Ile) c.1313G>T (p.Ser438Ile) c.493G>T c.41G>T (p.Ser14Ile) c.1403G>T (p.Ser468Ile) c.1307G>T (p.Ser436Ile) c.914G>T (p.Ser305Ile) c.1310G>T (p.Ser437Ile) c.341G>T (p.Ser114Ile) | |
| 20 | g.63414995C>G | CA409646554 | KCNQ2 | c.1379G>C (p.Ser460Thr) c.1433G>C (p.Ser478Thr) c.830G>C (p.Ser277Thr) c.1343G>C (p.Ser448Thr) c.1001G>C (p.Ser334Thr) c.1349G>C (p.Ser450Thr) c.1313G>C (p.Ser438Thr) c.493G>C c.41G>C (p.Ser14Thr) c.1403G>C (p.Ser468Thr) c.1307G>C (p.Ser436Thr) c.914G>C (p.Ser305Thr) c.1310G>C (p.Ser437Thr) c.341G>C (p.Ser114Thr) | |
| 20 | g.63414995C>T | CA409646555 | KCNQ2 | c.1379G>A (p.Ser460Asn) c.1433G>A (p.Ser478Asn) c.830G>A (p.Ser277Asn) c.1343G>A (p.Ser448Asn) c.1001G>A (p.Ser334Asn) c.1349G>A (p.Ser450Asn) c.1313G>A (p.Ser438Asn) c.493G>A c.41G>A (p.Ser14Asn) c.1403G>A (p.Ser468Asn) c.1307G>A (p.Ser436Asn) c.914G>A (p.Ser305Asn) c.1310G>A (p.Ser437Asn) c.341G>A (p.Ser114Asn) | gnomAD v2 gnomAD v4 |
| 20 | g.63414996_63415005del | CA915952968 | KCNQ2 | c.1370_1379del (p.Asp457AlafsTer?) c.1424_1433del (p.Asp475AlafsTer?) c.821_830del (p.Asp274AlafsTer?) c.1334_1343del (p.Asp445AlafsTer?) c.992_1001del (p.Asp331AlafsTer?) c.1340_1349del (p.Asp447AlafsTer?) c.1304_1313del (p.Asp435AlafsTer?) c.484_493del c.32_41del (p.Asp11AlafsTer?) c.1394_1403del (p.Asp465AlafsTer?) c.1298_1307del (p.Asp433AlafsTer?) c.905_914del (p.Asp302AlafsTer?) c.1301_1310del (p.Asp434AlafsTer?) c.332_341del (p.Asp111AlafsTer?) | ClinVar dbSNP |
| 20 | g.63414996T>A | CA409646557 | KCNQ2 | c.1378A>T (p.Ser460Cys) c.1432A>T (p.Ser478Cys) c.829A>T (p.Ser277Cys) c.1342A>T (p.Ser448Cys) c.1000A>T (p.Ser334Cys) c.1348A>T (p.Ser450Cys) c.1312A>T (p.Ser438Cys) c.492A>T c.40A>T (p.Ser14Cys) c.1402A>T (p.Ser468Cys) c.1306A>T (p.Ser436Cys) c.913A>T (p.Ser305Cys) c.1309A>T (p.Ser437Cys) c.340A>T (p.Ser114Cys) | |
| 20 | g.63414996T>C | CA409646558 | KCNQ2 | c.1378A>G (p.Ser460Gly) c.1432A>G (p.Ser478Gly) c.829A>G (p.Ser277Gly) c.1342A>G (p.Ser448Gly) c.1000A>G (p.Ser334Gly) c.1348A>G (p.Ser450Gly) c.1312A>G (p.Ser438Gly) c.492A>G c.40A>G (p.Ser14Gly) c.1402A>G (p.Ser468Gly) c.1306A>G (p.Ser436Gly) c.913A>G (p.Ser305Gly) c.1309A>G (p.Ser437Gly) c.340A>G (p.Ser114Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414996T>G | CA409646559 | KCNQ2 | c.1378A>C (p.Ser460Arg) c.1432A>C (p.Ser478Arg) c.829A>C (p.Ser277Arg) c.1342A>C (p.Ser448Arg) c.1000A>C (p.Ser334Arg) c.1348A>C (p.Ser450Arg) c.1312A>C (p.Ser438Arg) c.492A>C c.40A>C (p.Ser14Arg) c.1402A>C (p.Ser468Arg) c.1306A>C (p.Ser436Arg) c.913A>C (p.Ser305Arg) c.1309A>C (p.Ser437Arg) c.340A>C (p.Ser114Arg) | |
| 20 | g.63414996T= | CA2374778803 | KCNQ2 | c.1378A= (p.Ser460=) c.1432A= (p.Ser478=) c.829A= (p.Ser277=) c.1342A= (p.Ser448=) c.1000A= (p.Ser334=) c.1348A= (p.Ser450=) c.1312A= (p.Ser438=) c.492A= c.40A= (p.Ser14=) c.1402A= (p.Ser468=) c.1306A= (p.Ser436=) c.913A= (p.Ser305=) c.1309A= (p.Ser437=) c.340A= (p.Ser114=) | |
| 20 | g.63414997G>A | CA511339712 | KCNQ2 | c.1377C>T (p.Pro459=) c.1431C>T (p.Pro477=) c.828C>T (p.Pro276=) c.1341C>T (p.Pro447=) c.999C>T (p.Pro333=) c.1347C>T (p.Pro449=) c.1311C>T (p.Pro437=) c.491C>T c.39C>T (p.Pro13=) c.1401C>T (p.Pro467=) c.1305C>T (p.Pro435=) c.912C>T (p.Pro304=) c.1308C>T (p.Pro436=) c.339C>T (p.Pro113=) | |
| 20 | g.63414997G>C | CA511339713 | KCNQ2 | c.1377C>G (p.Pro459=) c.1431C>G (p.Pro477=) c.828C>G (p.Pro276=) c.1341C>G (p.Pro447=) c.999C>G (p.Pro333=) c.1347C>G (p.Pro449=) c.1311C>G (p.Pro437=) c.491C>G c.39C>G (p.Pro13=) c.1401C>G (p.Pro467=) c.1305C>G (p.Pro435=) c.912C>G (p.Pro304=) c.1308C>G (p.Pro436=) c.339C>G (p.Pro113=) | |
| 20 | g.63414997G>T | CA511339714 | KCNQ2 | c.1377C>A (p.Pro459=) c.1431C>A (p.Pro477=) c.828C>A (p.Pro276=) c.1341C>A (p.Pro447=) c.999C>A (p.Pro333=) c.1347C>A (p.Pro449=) c.1311C>A (p.Pro437=) c.491C>A c.39C>A (p.Pro13=) c.1401C>A (p.Pro467=) c.1305C>A (p.Pro435=) c.912C>A (p.Pro304=) c.1308C>A (p.Pro436=) c.339C>A (p.Pro113=) | |
| 20 | g.63414998G>A | CA409646561 | KCNQ2 | c.1376C>T (p.Pro459Leu) c.1430C>T (p.Pro477Leu) c.827C>T (p.Pro276Leu) c.1340C>T (p.Pro447Leu) c.998C>T (p.Pro333Leu) c.1346C>T (p.Pro449Leu) c.1310C>T (p.Pro437Leu) c.490C>T c.38C>T (p.Pro13Leu) c.1400C>T (p.Pro467Leu) c.1304C>T (p.Pro435Leu) c.911C>T (p.Pro304Leu) c.1307C>T (p.Pro436Leu) c.338C>T (p.Pro113Leu) | |
| 20 | g.63414998G>C | CA409646562 | KCNQ2 | c.1376C>G (p.Pro459Arg) c.1430C>G (p.Pro477Arg) c.827C>G (p.Pro276Arg) c.1340C>G (p.Pro447Arg) c.998C>G (p.Pro333Arg) c.1346C>G (p.Pro449Arg) c.1310C>G (p.Pro437Arg) c.490C>G c.38C>G (p.Pro13Arg) c.1400C>G (p.Pro467Arg) c.1304C>G (p.Pro435Arg) c.911C>G (p.Pro304Arg) c.1307C>G (p.Pro436Arg) c.338C>G (p.Pro113Arg) | |
| 20 | g.63414998G>T | CA409646564 | KCNQ2 | c.1376C>A (p.Pro459His) c.1430C>A (p.Pro477His) c.827C>A (p.Pro276His) c.1340C>A (p.Pro447His) c.998C>A (p.Pro333His) c.1346C>A (p.Pro449His) c.1310C>A (p.Pro437His) c.490C>A c.38C>A (p.Pro13His) c.1400C>A (p.Pro467His) c.1304C>A (p.Pro435His) c.911C>A (p.Pro304His) c.1307C>A (p.Pro436His) c.338C>A (p.Pro113His) | |
| 20 | g.63414999G>A | CA409646566 | KCNQ2 | c.1375C>T (p.Pro459Ser) c.1429C>T (p.Pro477Ser) c.826C>T (p.Pro276Ser) c.1339C>T (p.Pro447Ser) c.997C>T (p.Pro333Ser) c.1345C>T (p.Pro449Ser) c.1309C>T (p.Pro437Ser) c.489C>T c.37C>T (p.Pro13Ser) c.1399C>T (p.Pro467Ser) c.1303C>T (p.Pro435Ser) c.910C>T (p.Pro304Ser) c.1306C>T (p.Pro436Ser) c.337C>T (p.Pro113Ser) | |
| 20 | g.63414999G>C | CA409646567 | KCNQ2 | c.1375C>G (p.Pro459Ala) c.1429C>G (p.Pro477Ala) c.826C>G (p.Pro276Ala) c.1339C>G (p.Pro447Ala) c.997C>G (p.Pro333Ala) c.1345C>G (p.Pro449Ala) c.1309C>G (p.Pro437Ala) c.489C>G c.37C>G (p.Pro13Ala) c.1399C>G (p.Pro467Ala) c.1303C>G (p.Pro435Ala) c.910C>G (p.Pro304Ala) c.1306C>G (p.Pro436Ala) c.337C>G (p.Pro113Ala) | |
| 20 | g.63414999G>T | CA409646569 | KCNQ2 | c.1375C>A (p.Pro459Thr) c.1429C>A (p.Pro477Thr) c.826C>A (p.Pro276Thr) c.1339C>A (p.Pro447Thr) c.997C>A (p.Pro333Thr) c.1345C>A (p.Pro449Thr) c.1309C>A (p.Pro437Thr) c.489C>A c.37C>A (p.Pro13Thr) c.1399C>A (p.Pro467Thr) c.1303C>A (p.Pro435Thr) c.910C>A (p.Pro304Thr) c.1306C>A (p.Pro436Thr) c.337C>A (p.Pro113Thr) | gnomAD v4 |
| 20 | g.63415000G>A | CA511339715 | KCNQ2 | c.1374C>T (p.Ser458=) c.1428C>T (p.Ser476=) c.825C>T (p.Ser275=) c.1338C>T (p.Ser446=) c.996C>T (p.Ser332=) c.1344C>T (p.Ser448=) c.1308C>T (p.Ser436=) c.488C>T c.36C>T (p.Ser12=) c.1398C>T (p.Ser466=) c.1302C>T (p.Ser434=) c.909C>T (p.Ser303=) c.1305C>T (p.Ser435=) c.336C>T (p.Ser112=) | dbSNP gnomAD v4 |
| 20 | g.63415000G>C | CA409646573 | KCNQ2 | c.1374C>G (p.Ser458Arg) c.1428C>G (p.Ser476Arg) c.825C>G (p.Ser275Arg) c.1338C>G (p.Ser446Arg) c.996C>G (p.Ser332Arg) c.1344C>G (p.Ser448Arg) c.1308C>G (p.Ser436Arg) c.488C>G c.36C>G (p.Ser12Arg) c.1398C>G (p.Ser466Arg) c.1302C>G (p.Ser434Arg) c.909C>G (p.Ser303Arg) c.1305C>G (p.Ser435Arg) c.336C>G (p.Ser112Arg) | |
| 20 | g.63415000G>T | CA409646572 | KCNQ2 | c.1374C>A (p.Ser458Arg) c.1428C>A (p.Ser476Arg) c.825C>A (p.Ser275Arg) c.1338C>A (p.Ser446Arg) c.996C>A (p.Ser332Arg) c.1344C>A (p.Ser448Arg) c.1308C>A (p.Ser436Arg) c.488C>A c.36C>A (p.Ser12Arg) c.1398C>A (p.Ser466Arg) c.1302C>A (p.Ser434Arg) c.909C>A (p.Ser303Arg) c.1305C>A (p.Ser435Arg) c.336C>A (p.Ser112Arg) | |
| 20 | g.63415001C>A | CA409646574 | KCNQ2 | c.1373G>T (p.Ser458Ile) c.1427G>T (p.Ser476Ile) c.824G>T (p.Ser275Ile) c.1337G>T (p.Ser446Ile) c.995G>T (p.Ser332Ile) c.1343G>T (p.Ser448Ile) c.1307G>T (p.Ser436Ile) c.487G>T c.35G>T (p.Ser12Ile) c.1397G>T (p.Ser466Ile) c.1301G>T (p.Ser434Ile) c.908G>T (p.Ser303Ile) c.1304G>T (p.Ser435Ile) c.335G>T (p.Ser112Ile) | gnomAD v4 |
| 20 | g.63415001C>G | CA409646576 | KCNQ2 | c.1373G>C (p.Ser458Thr) c.1427G>C (p.Ser476Thr) c.824G>C (p.Ser275Thr) c.1337G>C (p.Ser446Thr) c.995G>C (p.Ser332Thr) c.1343G>C (p.Ser448Thr) c.1307G>C (p.Ser436Thr) c.487G>C c.35G>C (p.Ser12Thr) c.1397G>C (p.Ser466Thr) c.1301G>C (p.Ser434Thr) c.908G>C (p.Ser303Thr) c.1304G>C (p.Ser435Thr) c.335G>C (p.Ser112Thr) | |
| 20 | g.63415001C>T | CA409646578 | KCNQ2 | c.1373G>A (p.Ser458Asn) c.1427G>A (p.Ser476Asn) c.824G>A (p.Ser275Asn) c.1337G>A (p.Ser446Asn) c.995G>A (p.Ser332Asn) c.1343G>A (p.Ser448Asn) c.1307G>A (p.Ser436Asn) c.487G>A c.35G>A (p.Ser12Asn) c.1397G>A (p.Ser466Asn) c.1301G>A (p.Ser434Asn) c.908G>A (p.Ser303Asn) c.1304G>A (p.Ser435Asn) c.335G>A (p.Ser112Asn) | |
| 20 | g.63415002T>A | CA409646580 | KCNQ2 | c.1372A>T (p.Ser458Cys) c.1426A>T (p.Ser476Cys) c.823A>T (p.Ser275Cys) c.1336A>T (p.Ser446Cys) c.994A>T (p.Ser332Cys) c.1342A>T (p.Ser448Cys) c.1306A>T (p.Ser436Cys) c.486A>T c.34A>T (p.Ser12Cys) c.1396A>T (p.Ser466Cys) c.1300A>T (p.Ser434Cys) c.907A>T (p.Ser303Cys) c.1303A>T (p.Ser435Cys) c.334A>T (p.Ser112Cys) | |
| 20 | g.63415002T>C | CA409646581 | KCNQ2 | c.1372A>G (p.Ser458Gly) c.1426A>G (p.Ser476Gly) c.823A>G (p.Ser275Gly) c.1336A>G (p.Ser446Gly) c.994A>G (p.Ser332Gly) c.1342A>G (p.Ser448Gly) c.1306A>G (p.Ser436Gly) c.486A>G c.34A>G (p.Ser12Gly) c.1396A>G (p.Ser466Gly) c.1300A>G (p.Ser434Gly) c.907A>G (p.Ser303Gly) c.1303A>G (p.Ser435Gly) c.334A>G (p.Ser112Gly) | |
| 20 | g.63415002T>G | CA409646583 | KCNQ2 | c.1372A>C (p.Ser458Arg) c.1426A>C (p.Ser476Arg) c.823A>C (p.Ser275Arg) c.1336A>C (p.Ser446Arg) c.994A>C (p.Ser332Arg) c.1342A>C (p.Ser448Arg) c.1306A>C (p.Ser436Arg) c.486A>C c.34A>C (p.Ser12Arg) c.1396A>C (p.Ser466Arg) c.1300A>C (p.Ser434Arg) c.907A>C (p.Ser303Arg) c.1303A>C (p.Ser435Arg) c.334A>C (p.Ser112Arg) | |
| 20 | g.63415003G>A | CA511339716 | KCNQ2 | c.1371C>T (p.Asp457=) c.1425C>T (p.Asp475=) c.822C>T (p.Asp274=) c.1335C>T (p.Asp445=) c.993C>T (p.Asp331=) c.1341C>T (p.Asp447=) c.1305C>T (p.Asp435=) c.485C>T c.33C>T (p.Asp11=) c.1395C>T (p.Asp465=) c.1299C>T (p.Asp433=) c.906C>T (p.Asp302=) c.1302C>T (p.Asp434=) c.333C>T (p.Asp111=) | |
| 20 | g.63415003G>C | CA409646585 | KCNQ2 | c.1371C>G (p.Asp457Glu) c.1425C>G (p.Asp475Glu) c.822C>G (p.Asp274Glu) c.1335C>G (p.Asp445Glu) c.993C>G (p.Asp331Glu) c.1341C>G (p.Asp447Glu) c.1305C>G (p.Asp435Glu) c.485C>G c.33C>G (p.Asp11Glu) c.1395C>G (p.Asp465Glu) c.1299C>G (p.Asp433Glu) c.906C>G (p.Asp302Glu) c.1302C>G (p.Asp434Glu) c.333C>G (p.Asp111Glu) | |
| 20 | g.63415003G= | CA2374778804 | KCNQ2 | c.1371C= (p.Asp457=) c.1425C= (p.Asp475=) c.822C= (p.Asp274=) c.1335C= (p.Asp445=) c.993C= (p.Asp331=) c.1341C= (p.Asp447=) c.1305C= (p.Asp435=) c.485C= c.33C= (p.Asp11=) c.1395C= (p.Asp465=) c.1299C= (p.Asp433=) c.906C= (p.Asp302=) c.1302C= (p.Asp434=) c.333C= (p.Asp111=) | |
| 20 | g.63415003G>T | CA317431033 | KCNQ2 | c.1371C>A (p.Asp457Glu) c.1425C>A (p.Asp475Glu) c.822C>A (p.Asp274Glu) c.1335C>A (p.Asp445Glu) c.993C>A (p.Asp331Glu) c.1341C>A (p.Asp447Glu) c.1305C>A (p.Asp435Glu) c.485C>A c.33C>A (p.Asp11Glu) c.1395C>A (p.Asp465Glu) c.1299C>A (p.Asp433Glu) c.906C>A (p.Asp302Glu) c.1302C>A (p.Asp434Glu) c.333C>A (p.Asp111Glu) | ClinVar dbSNP |
| 20 | g.63415004T>A | CA409646587 | KCNQ2 | c.1370A>T (p.Asp457Val) c.1424A>T (p.Asp475Val) c.821A>T (p.Asp274Val) c.1334A>T (p.Asp445Val) c.992A>T (p.Asp331Val) c.1340A>T (p.Asp447Val) c.1304A>T (p.Asp435Val) c.484A>T c.32A>T (p.Asp11Val) c.1394A>T (p.Asp465Val) c.1298A>T (p.Asp433Val) c.905A>T (p.Asp302Val) c.1301A>T (p.Asp434Val) c.332A>T (p.Asp111Val) | |
| 20 | g.63415004T>C | CA409646588 | KCNQ2 | c.1370A>G (p.Asp457Gly) c.1424A>G (p.Asp475Gly) c.821A>G (p.Asp274Gly) c.1334A>G (p.Asp445Gly) c.992A>G (p.Asp331Gly) c.1340A>G (p.Asp447Gly) c.1304A>G (p.Asp435Gly) c.484A>G c.32A>G (p.Asp11Gly) c.1394A>G (p.Asp465Gly) c.1298A>G (p.Asp433Gly) c.905A>G (p.Asp302Gly) c.1301A>G (p.Asp434Gly) c.332A>G (p.Asp111Gly) | |
| 20 | g.63415004T>G | CA409646590 | KCNQ2 | c.1370A>C (p.Asp457Ala) c.1424A>C (p.Asp475Ala) c.821A>C (p.Asp274Ala) c.1334A>C (p.Asp445Ala) c.992A>C (p.Asp331Ala) c.1340A>C (p.Asp447Ala) c.1304A>C (p.Asp435Ala) c.484A>C c.32A>C (p.Asp11Ala) c.1394A>C (p.Asp465Ala) c.1298A>C (p.Asp433Ala) c.905A>C (p.Asp302Ala) c.1301A>C (p.Asp434Ala) c.332A>C (p.Asp111Ala) | |
| 20 | g.63415005C>A | CA409646592 | KCNQ2 | c.1369G>T (p.Asp457Tyr) c.1423G>T (p.Asp475Tyr) c.820G>T (p.Asp274Tyr) c.1333G>T (p.Asp445Tyr) c.991G>T (p.Asp331Tyr) c.1339G>T (p.Asp447Tyr) c.1303G>T (p.Asp435Tyr) c.483G>T c.31G>T (p.Asp11Tyr) c.1393G>T (p.Asp465Tyr) c.1297G>T (p.Asp433Tyr) c.904G>T (p.Asp302Tyr) c.1300G>T (p.Asp434Tyr) c.331G>T (p.Asp111Tyr) | ClinVar |
| 20 | g.63415005C>G | CA409646593 | KCNQ2 | c.1369G>C (p.Asp457His) c.1423G>C (p.Asp475His) c.820G>C (p.Asp274His) c.1333G>C (p.Asp445His) c.991G>C (p.Asp331His) c.1339G>C (p.Asp447His) c.1303G>C (p.Asp435His) c.483G>C c.31G>C (p.Asp11His) c.1393G>C (p.Asp465His) c.1297G>C (p.Asp433His) c.904G>C (p.Asp302His) c.1300G>C (p.Asp434His) c.331G>C (p.Asp111His) |