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.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.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.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) | |
| 20 | g.63415005C>T | CA409646594 | KCNQ2 | c.1369G>A (p.Asp457Asn) c.1423G>A (p.Asp475Asn) c.820G>A (p.Asp274Asn) c.1333G>A (p.Asp445Asn) c.991G>A (p.Asp331Asn) c.1339G>A (p.Asp447Asn) c.1303G>A (p.Asp435Asn) c.483G>A c.31G>A (p.Asp11Asn) c.1393G>A (p.Asp465Asn) c.1297G>A (p.Asp433Asn) c.904G>A (p.Asp302Asn) c.1300G>A (p.Asp434Asn) c.331G>A (p.Asp111Asn) | COSMIC COSMIC COSMIC |
| 20 | g.63415006C>A | CA409646596 | KCNQ2 | c.1368G>T (p.Glu456Asp) c.1422G>T (p.Glu474Asp) c.819G>T (p.Glu273Asp) c.1332G>T (p.Glu444Asp) c.990G>T (p.Glu330Asp) c.1338G>T (p.Glu446Asp) c.1302G>T (p.Glu434Asp) c.482G>T c.30G>T (p.Glu10Asp) c.1392G>T (p.Glu464Asp) c.1296G>T (p.Glu432Asp) c.903G>T (p.Glu301Asp) c.1299G>T (p.Glu433Asp) c.330G>T (p.Glu110Asp) | |
| 20 | g.63415006C= | CA2374778805 | KCNQ2 | c.1368G= (p.Glu456=) c.1422G= (p.Glu474=) c.819G= (p.Glu273=) c.1332G= (p.Glu444=) c.990G= (p.Glu330=) c.1338G= (p.Glu446=) c.1302G= (p.Glu434=) c.482G= c.30G= (p.Glu10=) c.1392G= (p.Glu464=) c.1296G= (p.Glu432=) c.903G= (p.Glu301=) c.1299G= (p.Glu433=) c.330G= (p.Glu110=) | |
| 20 | g.63415006C>G | CA409646598 | KCNQ2 | c.1368G>C (p.Glu456Asp) c.1422G>C (p.Glu474Asp) c.819G>C (p.Glu273Asp) c.1332G>C (p.Glu444Asp) c.990G>C (p.Glu330Asp) c.1338G>C (p.Glu446Asp) c.1302G>C (p.Glu434Asp) c.482G>C c.30G>C (p.Glu10Asp) c.1392G>C (p.Glu464Asp) c.1296G>C (p.Glu432Asp) c.903G>C (p.Glu301Asp) c.1299G>C (p.Glu433Asp) c.330G>C (p.Glu110Asp) | |
| 20 | g.63415006C>T | CA511339717 | KCNQ2 | c.1368G>A (p.Glu456=) c.1422G>A (p.Glu474=) c.819G>A (p.Glu273=) c.1332G>A (p.Glu444=) c.990G>A (p.Glu330=) c.1338G>A (p.Glu446=) c.1302G>A (p.Glu434=) c.482G>A c.30G>A (p.Glu10=) c.1392G>A (p.Glu464=) c.1296G>A (p.Glu432=) c.903G>A (p.Glu301=) c.1299G>A (p.Glu433=) c.330G>A (p.Glu110=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63415007T>A | CA409646600 | KCNQ2 | c.1367A>T (p.Glu456Val) c.1421A>T (p.Glu474Val) c.818A>T (p.Glu273Val) c.1331A>T (p.Glu444Val) c.989A>T (p.Glu330Val) c.1337A>T (p.Glu446Val) c.1301A>T (p.Glu434Val) c.481A>T c.29A>T (p.Glu10Val) c.1391A>T (p.Glu464Val) c.1295A>T (p.Glu432Val) c.902A>T (p.Glu301Val) c.1298A>T (p.Glu433Val) c.329A>T (p.Glu110Val) | |
| 20 | g.63415007T>C | CA409646601 | KCNQ2 | c.1367A>G (p.Glu456Gly) c.1421A>G (p.Glu474Gly) c.818A>G (p.Glu273Gly) c.1331A>G (p.Glu444Gly) c.989A>G (p.Glu330Gly) c.1337A>G (p.Glu446Gly) c.1301A>G (p.Glu434Gly) c.481A>G c.29A>G (p.Glu10Gly) c.1391A>G (p.Glu464Gly) c.1295A>G (p.Glu432Gly) c.902A>G (p.Glu301Gly) c.1298A>G (p.Glu433Gly) c.329A>G (p.Glu110Gly) | |
| 20 | g.63415007T>G | CA409646603 | KCNQ2 | c.1367A>C (p.Glu456Ala) c.1421A>C (p.Glu474Ala) c.818A>C (p.Glu273Ala) c.1331A>C (p.Glu444Ala) c.989A>C (p.Glu330Ala) c.1337A>C (p.Glu446Ala) c.1301A>C (p.Glu434Ala) c.481A>C c.29A>C (p.Glu10Ala) c.1391A>C (p.Glu464Ala) c.1295A>C (p.Glu432Ala) c.902A>C (p.Glu301Ala) c.1298A>C (p.Glu433Ala) c.329A>C (p.Glu110Ala) | |
| 20 | g.63415008C>A | CA409646605 | KCNQ2 | c.1366G>T (p.Glu456Ter) c.1420G>T (p.Glu474Ter) c.817G>T (p.Glu273Ter) c.1330G>T (p.Glu444Ter) c.988G>T (p.Glu330Ter) c.1336G>T (p.Glu446Ter) c.1300G>T (p.Glu434Ter) c.480G>T c.28G>T (p.Glu10Ter) c.1390G>T (p.Glu464Ter) c.1294G>T (p.Glu432Ter) c.901G>T (p.Glu301Ter) c.1297G>T (p.Glu433Ter) c.328G>T (p.Glu110Ter) | ClinVar dbSNP |
| 20 | g.63415008C= | CA2374778806 | KCNQ2 | c.1366G= (p.Glu456=) c.1420G= (p.Glu474=) c.817G= (p.Glu273=) c.1330G= (p.Glu444=) c.988G= (p.Glu330=) c.1336G= (p.Glu446=) c.1300G= (p.Glu434=) c.480G= c.28G= (p.Glu10=) c.1390G= (p.Glu464=) c.1294G= (p.Glu432=) c.901G= (p.Glu301=) c.1297G= (p.Glu433=) c.328G= (p.Glu110=) | |
| 20 | g.63415008C>G | CA409646606 | KCNQ2 | c.1366G>C (p.Glu456Gln) c.1420G>C (p.Glu474Gln) c.817G>C (p.Glu273Gln) c.1330G>C (p.Glu444Gln) c.988G>C (p.Glu330Gln) c.1336G>C (p.Glu446Gln) c.1300G>C (p.Glu434Gln) c.480G>C c.28G>C (p.Glu10Gln) c.1390G>C (p.Glu464Gln) c.1294G>C (p.Glu432Gln) c.901G>C (p.Glu301Gln) c.1297G>C (p.Glu433Gln) c.328G>C (p.Glu110Gln) | COSMIC COSMIC COSMIC |
| 20 | g.63415008C>T | CA9958458 | KCNQ2 | c.1366G>A (p.Glu456Lys) c.1420G>A (p.Glu474Lys) c.817G>A (p.Glu273Lys) c.1330G>A (p.Glu444Lys) c.988G>A (p.Glu330Lys) c.1336G>A (p.Glu446Lys) c.1300G>A (p.Glu434Lys) c.480G>A c.28G>A (p.Glu10Lys) c.1390G>A (p.Glu464Lys) c.1294G>A (p.Glu432Lys) c.901G>A (p.Glu301Lys) c.1297G>A (p.Glu433Lys) c.328G>A (p.Glu110Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63415008_63415010delinsCGA | CA2374778807 | KCNQ2 | c.1364_1366delinsTCG (p.Leu455=) c.1418_1420delinsTCG (p.Leu473=) c.815_817delinsTCG (p.Leu272=) c.1328_1330delinsTCG (p.Leu443=) c.986_988delinsTCG (p.Leu329=) c.1334_1336delinsTCG (p.Leu445=) c.1298_1300delinsTCG (p.Leu433=) c.478_480delinsTCG c.26_28delinsTCG (p.Leu9=) c.1388_1390delinsTCG (p.Leu463=) c.1292_1294delinsTCG (p.Leu431=) c.899_901delinsTCG (p.Leu300=) c.1295_1297delinsTCG (p.Leu432=) c.326_328delinsTCG (p.Leu109=) | |
| 20 | g.63415009G>A | CA291795 | KCNQ2 | c.1365C>T (p.Leu455=) c.1419C>T (p.Leu473=) c.816C>T (p.Leu272=) c.1329C>T (p.Leu443=) c.987C>T (p.Leu329=) c.1335C>T (p.Leu445=) c.1299C>T (p.Leu433=) c.479C>T c.27C>T (p.Leu9=) c.1389C>T (p.Leu463=) c.1293C>T (p.Leu431=) c.900C>T (p.Leu300=) c.1296C>T (p.Leu432=) c.327C>T (p.Leu109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63415009G>C | CA511339718 | KCNQ2 | c.1365C>G (p.Leu455=) c.1419C>G (p.Leu473=) c.816C>G (p.Leu272=) c.1329C>G (p.Leu443=) c.987C>G (p.Leu329=) c.1335C>G (p.Leu445=) c.1299C>G (p.Leu433=) c.479C>G c.27C>G (p.Leu9=) c.1389C>G (p.Leu463=) c.1293C>G (p.Leu431=) c.900C>G (p.Leu300=) c.1296C>G (p.Leu432=) c.327C>G (p.Leu109=) | gnomAD v4 |
| 20 | g.63415009G= | CA2374778808 | KCNQ2 | c.1365C= (p.Leu455=) c.1419C= (p.Leu473=) c.816C= (p.Leu272=) c.1329C= (p.Leu443=) c.987C= (p.Leu329=) c.1335C= (p.Leu445=) c.1299C= (p.Leu433=) c.479C= c.27C= (p.Leu9=) c.1389C= (p.Leu463=) c.1293C= (p.Leu431=) c.900C= (p.Leu300=) c.1296C= (p.Leu432=) c.327C= (p.Leu109=) | |
| 20 | g.63415009G>T | CA511339719 | KCNQ2 | c.1365C>A (p.Leu455=) c.1419C>A (p.Leu473=) c.816C>A (p.Leu272=) c.1329C>A (p.Leu443=) c.987C>A (p.Leu329=) c.1335C>A (p.Leu445=) c.1299C>A (p.Leu433=) c.479C>A c.27C>A (p.Leu9=) c.1389C>A (p.Leu463=) c.1293C>A (p.Leu431=) c.900C>A (p.Leu300=) c.1296C>A (p.Leu432=) c.327C>A (p.Leu109=) | |
| 20 | g.63415010_63415011del | CA10654789 | KCNQ2 | c.1364_1365del (p.Leu455ArgfsTer?) c.1418_1419del (p.Leu473ArgfsTer?) c.815_816del (p.Leu272ArgfsTer?) c.1328_1329del (p.Leu443ArgfsTer?) c.986_987del (p.Leu329ArgfsTer?) c.1334_1335del (p.Leu445ArgfsTer?) c.1298_1299del (p.Leu433ArgfsTer?) c.478_479del c.26_27del (p.Leu9ArgfsTer?) c.1388_1389del (p.Leu463ArgfsTer?) c.1292_1293del (p.Leu431ArgfsTer?) c.899_900del (p.Leu300ArgfsTer?) c.1295_1296del (p.Leu432ArgfsTer?) c.326_327del (p.Leu109ArgfsTer?) | ClinVar dbSNP |
| 20 | g.63415010A>C | CA409646610 | KCNQ2 | c.1364T>G (p.Leu455Arg) c.1418T>G (p.Leu473Arg) c.815T>G (p.Leu272Arg) c.1328T>G (p.Leu443Arg) c.986T>G (p.Leu329Arg) c.1334T>G (p.Leu445Arg) c.1298T>G (p.Leu433Arg) c.478T>G c.26T>G (p.Leu9Arg) c.1388T>G (p.Leu463Arg) c.1292T>G (p.Leu431Arg) c.899T>G (p.Leu300Arg) c.1295T>G (p.Leu432Arg) c.326T>G (p.Leu109Arg) | |
| 20 | g.63415010A>G | CA409646612 | KCNQ2 | c.1364T>C (p.Leu455Pro) c.1418T>C (p.Leu473Pro) c.815T>C (p.Leu272Pro) c.1328T>C (p.Leu443Pro) c.986T>C (p.Leu329Pro) c.1334T>C (p.Leu445Pro) c.1298T>C (p.Leu433Pro) c.478T>C c.26T>C (p.Leu9Pro) c.1388T>C (p.Leu463Pro) c.1292T>C (p.Leu431Pro) c.899T>C (p.Leu300Pro) c.1295T>C (p.Leu432Pro) c.326T>C (p.Leu109Pro) | dbSNP |
| 20 | g.63415010A>T | CA409646614 | KCNQ2 | c.1364T>A (p.Leu455His) c.1418T>A (p.Leu473His) c.815T>A (p.Leu272His) c.1328T>A (p.Leu443His) c.986T>A (p.Leu329His) c.1334T>A (p.Leu445His) c.1298T>A (p.Leu433His) c.478T>A c.26T>A (p.Leu9His) c.1388T>A (p.Leu463His) c.1292T>A (p.Leu431His) c.899T>A (p.Leu300His) c.1295T>A (p.Leu432His) c.326T>A (p.Leu109His) | dbSNP |
| 20 | g.63415011G>A | CA409646616 | KCNQ2 | c.1363C>T (p.Leu455Phe) c.1417C>T (p.Leu473Phe) c.814C>T (p.Leu272Phe) c.1327C>T (p.Leu443Phe) c.985C>T (p.Leu329Phe) c.1333C>T (p.Leu445Phe) c.1297C>T (p.Leu433Phe) c.477C>T c.25C>T (p.Leu9Phe) c.1387C>T (p.Leu463Phe) c.1291C>T (p.Leu431Phe) c.898C>T (p.Leu300Phe) c.1294C>T (p.Leu432Phe) c.325C>T (p.Leu109Phe) | |
| 20 | g.63415011G>C | CA409646617 | KCNQ2 | c.1363C>G (p.Leu455Val) c.1417C>G (p.Leu473Val) c.814C>G (p.Leu272Val) c.1327C>G (p.Leu443Val) c.985C>G (p.Leu329Val) c.1333C>G (p.Leu445Val) c.1297C>G (p.Leu433Val) c.477C>G c.25C>G (p.Leu9Val) c.1387C>G (p.Leu463Val) c.1291C>G (p.Leu431Val) c.898C>G (p.Leu300Val) c.1294C>G (p.Leu432Val) c.325C>G (p.Leu109Val) | |
| 20 | g.63415011G>T | CA409646618 | KCNQ2 | c.1363C>A (p.Leu455Ile) c.1417C>A (p.Leu473Ile) c.814C>A (p.Leu272Ile) c.1327C>A (p.Leu443Ile) c.985C>A (p.Leu329Ile) c.1333C>A (p.Leu445Ile) c.1297C>A (p.Leu433Ile) c.477C>A c.25C>A (p.Leu9Ile) c.1387C>A (p.Leu463Ile) c.1291C>A (p.Leu431Ile) c.898C>A (p.Leu300Ile) c.1294C>A (p.Leu432Ile) c.325C>A (p.Leu109Ile) | |
| 20 | g.63415012G>A | CA511339720 | KCNQ2 | c.1362C>T (p.Ser454=) c.1416C>T (p.Ser472=) c.813C>T (p.Ser271=) c.1326C>T (p.Ser442=) c.984C>T (p.Ser328=) c.1332C>T (p.Ser444=) c.1296C>T (p.Ser432=) c.476C>T c.24C>T (p.Ser8=) c.1386C>T (p.Ser462=) c.1290C>T (p.Ser430=) c.897C>T (p.Ser299=) c.1293C>T (p.Ser431=) c.324C>T (p.Ser108=) | |
| 20 | g.63415012G>C | CA409646621 | KCNQ2 | c.1362C>G (p.Ser454Arg) c.1416C>G (p.Ser472Arg) c.813C>G (p.Ser271Arg) c.1326C>G (p.Ser442Arg) c.984C>G (p.Ser328Arg) c.1332C>G (p.Ser444Arg) c.1296C>G (p.Ser432Arg) c.476C>G c.24C>G (p.Ser8Arg) c.1386C>G (p.Ser462Arg) c.1290C>G (p.Ser430Arg) c.897C>G (p.Ser299Arg) c.1293C>G (p.Ser431Arg) c.324C>G (p.Ser108Arg) |