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.63414136_63414150delinsACAAACTCGCAGGGG | CA2374778309 | KCNQ2 | c.1515_1529delinsCCCCTGCGAGTTTGT (p.Cys505=) c.1569_1583delinsCCCCTGCGAGTTTGT (p.Cys523=) c.966_980delinsCCCCTGCGAGTTTGT (p.Cys322=) c.1476_1490delinsCCCCTGCGAGTTTGT (p.Cys492=) c.1137_1151delinsCCCCTGCGAGTTTGT (p.Cys379=) c.1485_1499delinsCCCCTGCGAGTTTGT (p.Cys495=) c.1449_1463delinsCCCCTGCGAGTTTGT (p.Cys483=) c.626_640delinsCCCCTGCGAGTTTGT c.177_191delinsCCCCTGCGAGTTTGT (p.Cys59=) c.1566_1580delinsCCCCTGCGAGTTTGT (p.Cys522=) c.1539_1553delinsCCCCTGCGAGTTTGT (p.Cys513=) c.1443_1457delinsCCCCTGCGAGTTTGT (p.Cys481=) c.1050_1064delinsCCCCTGCGAGTTTGT (p.Cys350=) c.1512_1526delinsCCCCTGCGAGTTTGT (p.Cys504=) c.1446_1460delinsCCCCTGCGAGTTTGT (p.Cys482=) c.477_491delinsCCCCTGCGAGTTTGT (p.Cys159=) | |
| 20 | g.63414137_63414150delinsCAAACTCGCAGGGG | CA2374778310 | KCNQ2 | c.1515_1528delinsCCCCTGCGAGTTTG (p.Cys505=) c.1569_1582delinsCCCCTGCGAGTTTG (p.Cys523=) c.966_979delinsCCCCTGCGAGTTTG (p.Cys322=) c.1476_1489delinsCCCCTGCGAGTTTG (p.Cys492=) c.1137_1150delinsCCCCTGCGAGTTTG (p.Cys379=) c.1485_1498delinsCCCCTGCGAGTTTG (p.Cys495=) c.1449_1462delinsCCCCTGCGAGTTTG (p.Cys483=) c.626_639delinsCCCCTGCGAGTTTG c.177_190delinsCCCCTGCGAGTTTG (p.Cys59=) c.1566_1579delinsCCCCTGCGAGTTTG (p.Cys522=) c.1539_1552delinsCCCCTGCGAGTTTG (p.Cys513=) c.1443_1456delinsCCCCTGCGAGTTTG (p.Cys481=) c.1050_1063delinsCCCCTGCGAGTTTG (p.Cys350=) c.1512_1525delinsCCCCTGCGAGTTTG (p.Cys504=) c.1446_1459delinsCCCCTGCGAGTTTG (p.Cys482=) c.477_490delinsCCCCTGCGAGTTTG (p.Cys159=) | |
| 20 | g.63414139_63414152del | CA342471 | KCNQ2 | c.1515_1528del (p.Pro506AspfsTer?) c.1569_1582del (p.Pro524AspfsTer?) c.966_979del (p.Pro323AspfsTer?) c.1476_1489del (p.Pro493AspfsTer?) c.1137_1150del (p.Pro380AspfsTer?) c.1485_1498del (p.Pro496AspfsTer?) c.1449_1462del (p.Pro484AspfsTer?) c.626_639del c.177_190del (p.Pro60AspfsTer?) c.1566_1579del (p.Pro523AspfsTer?) c.1539_1552del (p.Pro514AspfsTer?) c.1443_1456del (p.Pro482AspfsTer?) c.1050_1063del (p.Pro351AspfsTer?) c.1512_1525del (p.Pro505AspfsTer?) c.1446_1459del (p.Pro483AspfsTer?) c.477_490del (p.Pro160AspfsTer?) | dbSNP |
| 20 | g.63414138_63414150del | CA16043900 | KCNQ2 | c.1515_1527del (p.Cys505TrpfsTer2) c.1569_1581del (p.Cys523TrpfsTer2) c.966_978del (p.Cys322TrpfsTer2) c.1476_1488del (p.Cys492TrpfsTer2) c.1137_1149del (p.Cys379TrpfsTer2) c.1485_1497del (p.Cys495TrpfsTer2) c.1449_1461del (p.Cys483TrpfsTer2) c.626_638del c.177_189del (p.Cys59TrpfsTer2) c.1566_1578del (p.Cys522TrpfsTer2) c.1539_1551del (p.Cys513TrpfsTer2) c.1443_1455del (p.Cys481TrpfsTer2) c.1050_1062del (p.Cys350TrpfsTer2) c.1512_1524del (p.Cys504TrpfsTer2) c.1446_1458del (p.Cys482TrpfsTer2) c.477_489del (p.Cys159TrpfsTer2) | ClinVar dbSNP |
| 20 | g.63414139A>C | CA409645447 | KCNQ2 | c.1526T>G (p.Phe509Cys) c.1580T>G (p.Phe527Cys) c.977T>G (p.Phe326Cys) c.1487T>G (p.Phe496Cys) c.1148T>G (p.Phe383Cys) c.1496T>G (p.Phe499Cys) c.1460T>G (p.Phe487Cys) c.637T>G c.188T>G (p.Phe63Cys) c.1577T>G (p.Phe526Cys) c.1550T>G (p.Phe517Cys) c.1454T>G (p.Phe485Cys) c.1061T>G (p.Phe354Cys) c.1523T>G (p.Phe508Cys) c.1457T>G (p.Phe486Cys) c.488T>G (p.Phe163Cys) | |
| 20 | g.63414139A>G | CA409645449 | KCNQ2 | c.1526T>C (p.Phe509Ser) c.1580T>C (p.Phe527Ser) c.977T>C (p.Phe326Ser) c.1487T>C (p.Phe496Ser) c.1148T>C (p.Phe383Ser) c.1496T>C (p.Phe499Ser) c.1460T>C (p.Phe487Ser) c.637T>C c.188T>C (p.Phe63Ser) c.1577T>C (p.Phe526Ser) c.1550T>C (p.Phe517Ser) c.1454T>C (p.Phe485Ser) c.1061T>C (p.Phe354Ser) c.1523T>C (p.Phe508Ser) c.1457T>C (p.Phe486Ser) c.488T>C (p.Phe163Ser) | gnomAD v4 |
| 20 | g.63414139A>T | CA409645453 | KCNQ2 | c.1526T>A (p.Phe509Tyr) c.1580T>A (p.Phe527Tyr) c.977T>A (p.Phe326Tyr) c.1487T>A (p.Phe496Tyr) c.1148T>A (p.Phe383Tyr) c.1496T>A (p.Phe499Tyr) c.1460T>A (p.Phe487Tyr) c.637T>A c.188T>A (p.Phe63Tyr) c.1577T>A (p.Phe526Tyr) c.1550T>A (p.Phe517Tyr) c.1454T>A (p.Phe485Tyr) c.1061T>A (p.Phe354Tyr) c.1523T>A (p.Phe508Tyr) c.1457T>A (p.Phe486Tyr) c.488T>A (p.Phe163Tyr) | |
| 20 | g.63414140_63414152del | CA2695230078 | KCNQ2 | c.1514_1526del (p.Cys505LeufsTer2) c.1568_1580del (p.Cys523LeufsTer2) c.965_977del (p.Cys322LeufsTer2) c.1475_1487del (p.Cys492LeufsTer2) c.1136_1148del (p.Cys379LeufsTer2) c.1484_1496del (p.Cys495LeufsTer2) c.1448_1460del (p.Cys483LeufsTer2) c.625_637del c.176_188del (p.Cys59LeufsTer2) c.1565_1577del (p.Cys522LeufsTer2) c.1538_1550del (p.Cys513LeufsTer2) c.1442_1454del (p.Cys481LeufsTer2) c.1049_1061del (p.Cys350LeufsTer2) c.1511_1523del (p.Cys504LeufsTer2) c.1445_1457del (p.Cys482LeufsTer2) c.476_488del (p.Cys159LeufsTer2) | |
| 20 | g.63414140A= | CA2374778311 | KCNQ2 | c.1525T= (p.Phe509=) c.1579T= (p.Phe527=) c.976T= (p.Phe326=) c.1486T= (p.Phe496=) c.1147T= (p.Phe383=) c.1495T= (p.Phe499=) c.1459T= (p.Phe487=) c.636T= c.187T= (p.Phe63=) c.1576T= (p.Phe526=) c.1549T= (p.Phe517=) c.1453T= (p.Phe485=) c.1060T= (p.Phe354=) c.1522T= (p.Phe508=) c.1456T= (p.Phe486=) c.487T= (p.Phe163=) | |
| 20 | g.63414140A>C | CA409645458 | KCNQ2 | c.1525T>G (p.Phe509Val) c.1579T>G (p.Phe527Val) c.976T>G (p.Phe326Val) c.1486T>G (p.Phe496Val) c.1147T>G (p.Phe383Val) c.1495T>G (p.Phe499Val) c.1459T>G (p.Phe487Val) c.636T>G c.187T>G (p.Phe63Val) c.1576T>G (p.Phe526Val) c.1549T>G (p.Phe517Val) c.1453T>G (p.Phe485Val) c.1060T>G (p.Phe354Val) c.1522T>G (p.Phe508Val) c.1456T>G (p.Phe486Val) c.487T>G (p.Phe163Val) | |
| 20 | g.63414140A>G | CA409645464 | KCNQ2 | c.1525T>C (p.Phe509Leu) c.1579T>C (p.Phe527Leu) c.976T>C (p.Phe326Leu) c.1486T>C (p.Phe496Leu) c.1147T>C (p.Phe383Leu) c.1495T>C (p.Phe499Leu) c.1459T>C (p.Phe487Leu) c.636T>C c.187T>C (p.Phe63Leu) c.1576T>C (p.Phe526Leu) c.1549T>C (p.Phe517Leu) c.1453T>C (p.Phe485Leu) c.1060T>C (p.Phe354Leu) c.1522T>C (p.Phe508Leu) c.1456T>C (p.Phe486Leu) c.487T>C (p.Phe163Leu) | COSMIC COSMIC COSMIC |
| 20 | g.63414140A>T | CA9958401 | KCNQ2 | c.1525T>A (p.Phe509Ile) c.1579T>A (p.Phe527Ile) c.976T>A (p.Phe326Ile) c.1486T>A (p.Phe496Ile) c.1147T>A (p.Phe383Ile) c.1495T>A (p.Phe499Ile) c.1459T>A (p.Phe487Ile) c.636T>A c.187T>A (p.Phe63Ile) c.1576T>A (p.Phe526Ile) c.1549T>A (p.Phe517Ile) c.1453T>A (p.Phe485Ile) c.1060T>A (p.Phe354Ile) c.1522T>A (p.Phe508Ile) c.1456T>A (p.Phe486Ile) c.487T>A (p.Phe163Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63414141C>A | CA409645470 | KCNQ2 | c.1524G>T (p.Glu508Asp) c.1578G>T (p.Glu526Asp) c.975G>T (p.Glu325Asp) c.1485G>T (p.Glu495Asp) c.1146G>T (p.Glu382Asp) c.1494G>T (p.Glu498Asp) c.1458G>T (p.Glu486Asp) c.635G>T c.186G>T (p.Glu62Asp) c.1575G>T (p.Glu525Asp) c.1548G>T (p.Glu516Asp) c.1452G>T (p.Glu484Asp) c.1059G>T (p.Glu353Asp) c.1521G>T (p.Glu507Asp) c.1455G>T (p.Glu485Asp) c.486G>T (p.Glu162Asp) | |
| 20 | g.63414141C= | CA2374778312 | KCNQ2 | c.1524G= (p.Glu508=) c.1578G= (p.Glu526=) c.975G= (p.Glu325=) c.1485G= (p.Glu495=) c.1146G= (p.Glu382=) c.1494G= (p.Glu498=) c.1458G= (p.Glu486=) c.635G= c.186G= (p.Glu62=) c.1575G= (p.Glu525=) c.1548G= (p.Glu516=) c.1452G= (p.Glu484=) c.1059G= (p.Glu353=) c.1521G= (p.Glu507=) c.1455G= (p.Glu485=) c.486G= (p.Glu162=) | |
| 20 | g.63414141C>G | CA409645471 | KCNQ2 | c.1524G>C (p.Glu508Asp) c.1578G>C (p.Glu526Asp) c.975G>C (p.Glu325Asp) c.1485G>C (p.Glu495Asp) c.1146G>C (p.Glu382Asp) c.1494G>C (p.Glu498Asp) c.1458G>C (p.Glu486Asp) c.635G>C c.186G>C (p.Glu62Asp) c.1575G>C (p.Glu525Asp) c.1548G>C (p.Glu516Asp) c.1452G>C (p.Glu484Asp) c.1059G>C (p.Glu353Asp) c.1521G>C (p.Glu507Asp) c.1455G>C (p.Glu485Asp) c.486G>C (p.Glu162Asp) | |
| 20 | g.63414141C>T | CA511203905 | KCNQ2 | c.1524G>A (p.Glu508=) c.1578G>A (p.Glu526=) c.975G>A (p.Glu325=) c.1485G>A (p.Glu495=) c.1146G>A (p.Glu382=) c.1494G>A (p.Glu498=) c.1458G>A (p.Glu486=) c.635G>A c.186G>A (p.Glu62=) c.1575G>A (p.Glu525=) c.1548G>A (p.Glu516=) c.1452G>A (p.Glu484=) c.1059G>A (p.Glu353=) c.1521G>A (p.Glu507=) c.1455G>A (p.Glu485=) c.486G>A (p.Glu162=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63414142T>A | CA409645472 | KCNQ2 | c.1523A>T (p.Glu508Val) c.1577A>T (p.Glu526Val) c.974A>T (p.Glu325Val) c.1484A>T (p.Glu495Val) c.1145A>T (p.Glu382Val) c.1493A>T (p.Glu498Val) c.1457A>T (p.Glu486Val) c.634A>T c.185A>T (p.Glu62Val) c.1574A>T (p.Glu525Val) c.1547A>T (p.Glu516Val) c.1451A>T (p.Glu484Val) c.1058A>T (p.Glu353Val) c.1520A>T (p.Glu507Val) c.1454A>T (p.Glu485Val) c.485A>T (p.Glu162Val) | |
| 20 | g.63414142T>C | CA409645475 | KCNQ2 | c.1523A>G (p.Glu508Gly) c.1577A>G (p.Glu526Gly) c.974A>G (p.Glu325Gly) c.1484A>G (p.Glu495Gly) c.1145A>G (p.Glu382Gly) c.1493A>G (p.Glu498Gly) c.1457A>G (p.Glu486Gly) c.634A>G c.185A>G (p.Glu62Gly) c.1574A>G (p.Glu525Gly) c.1547A>G (p.Glu516Gly) c.1451A>G (p.Glu484Gly) c.1058A>G (p.Glu353Gly) c.1520A>G (p.Glu507Gly) c.1454A>G (p.Glu485Gly) c.485A>G (p.Glu162Gly) | |
| 20 | g.63414142T>G | CA409645473 | KCNQ2 | c.1523A>C (p.Glu508Ala) c.1577A>C (p.Glu526Ala) c.974A>C (p.Glu325Ala) c.1484A>C (p.Glu495Ala) c.1145A>C (p.Glu382Ala) c.1493A>C (p.Glu498Ala) c.1457A>C (p.Glu486Ala) c.634A>C c.185A>C (p.Glu62Ala) c.1574A>C (p.Glu525Ala) c.1547A>C (p.Glu516Ala) c.1451A>C (p.Glu484Ala) c.1058A>C (p.Glu353Ala) c.1520A>C (p.Glu507Ala) c.1454A>C (p.Glu485Ala) c.485A>C (p.Glu162Ala) | |
| 20 | g.63414143C>A | CA409645479 | KCNQ2 | c.1522G>T (p.Glu508Ter) c.1576G>T (p.Glu526Ter) c.973G>T (p.Glu325Ter) c.1483G>T (p.Glu495Ter) c.1144G>T (p.Glu382Ter) c.1492G>T (p.Glu498Ter) c.1456G>T (p.Glu486Ter) c.633G>T c.184G>T (p.Glu62Ter) c.1573G>T (p.Glu525Ter) c.1546G>T (p.Glu516Ter) c.1450G>T (p.Glu484Ter) c.1057G>T (p.Glu353Ter) c.1519G>T (p.Glu507Ter) c.1453G>T (p.Glu485Ter) c.484G>T (p.Glu162Ter) | |
| 20 | g.63414143C= | CA2374778313 | KCNQ2 | c.1522G= (p.Glu508=) c.1576G= (p.Glu526=) c.973G= (p.Glu325=) c.1483G= (p.Glu495=) c.1144G= (p.Glu382=) c.1492G= (p.Glu498=) c.1456G= (p.Glu486=) c.633G= c.184G= (p.Glu62=) c.1573G= (p.Glu525=) c.1546G= (p.Glu516=) c.1450G= (p.Glu484=) c.1057G= (p.Glu353=) c.1519G= (p.Glu507=) c.1453G= (p.Glu485=) c.484G= (p.Glu162=) | |
| 20 | g.63414143C>G | CA409645483 | KCNQ2 | c.1522G>C (p.Glu508Gln) c.1576G>C (p.Glu526Gln) c.973G>C (p.Glu325Gln) c.1483G>C (p.Glu495Gln) c.1144G>C (p.Glu382Gln) c.1492G>C (p.Glu498Gln) c.1456G>C (p.Glu486Gln) c.633G>C c.184G>C (p.Glu62Gln) c.1573G>C (p.Glu525Gln) c.1546G>C (p.Glu516Gln) c.1450G>C (p.Glu484Gln) c.1057G>C (p.Glu353Gln) c.1519G>C (p.Glu507Gln) c.1453G>C (p.Glu485Gln) c.484G>C (p.Glu162Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63414143C>T | CA9958402 | KCNQ2 | c.1522G>A (p.Glu508Lys) c.1576G>A (p.Glu526Lys) c.973G>A (p.Glu325Lys) c.1483G>A (p.Glu495Lys) c.1144G>A (p.Glu382Lys) c.1492G>A (p.Glu498Lys) c.1456G>A (p.Glu486Lys) c.633G>A c.184G>A (p.Glu62Lys) c.1573G>A (p.Glu525Lys) c.1546G>A (p.Glu516Lys) c.1450G>A (p.Glu484Lys) c.1057G>A (p.Glu353Lys) c.1519G>A (p.Glu507Lys) c.1453G>A (p.Glu485Lys) c.484G>A (p.Glu162Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63414144G>A | CA9958403 | KCNQ2 | c.1521C>T (p.Cys507=) c.1575C>T (p.Cys525=) c.972C>T (p.Cys324=) c.1482C>T (p.Cys494=) c.1143C>T (p.Cys381=) c.1491C>T (p.Cys497=) c.1455C>T (p.Cys485=) c.632C>T c.183C>T (p.Cys61=) c.1572C>T (p.Cys524=) c.1545C>T (p.Cys515=) c.1449C>T (p.Cys483=) c.1056C>T (p.Cys352=) c.1518C>T (p.Cys506=) c.1452C>T (p.Cys484=) c.483C>T (p.Cys161=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63414144G>C | CA409645487 | KCNQ2 | c.1521C>G (p.Cys507Trp) c.1575C>G (p.Cys525Trp) c.972C>G (p.Cys324Trp) c.1482C>G (p.Cys494Trp) c.1143C>G (p.Cys381Trp) c.1491C>G (p.Cys497Trp) c.1455C>G (p.Cys485Trp) c.632C>G c.183C>G (p.Cys61Trp) c.1572C>G (p.Cys524Trp) c.1545C>G (p.Cys515Trp) c.1449C>G (p.Cys483Trp) c.1056C>G (p.Cys352Trp) c.1518C>G (p.Cys506Trp) c.1452C>G (p.Cys484Trp) c.483C>G (p.Cys161Trp) | gnomAD v4 |
| 20 | g.63414144G= | CA2374778314 | KCNQ2 | c.1521C= (p.Cys507=) c.1575C= (p.Cys525=) c.972C= (p.Cys324=) c.1482C= (p.Cys494=) c.1143C= (p.Cys381=) c.1491C= (p.Cys497=) c.1455C= (p.Cys485=) c.632C= c.183C= (p.Cys61=) c.1572C= (p.Cys524=) c.1545C= (p.Cys515=) c.1449C= (p.Cys483=) c.1056C= (p.Cys352=) c.1518C= (p.Cys506=) c.1452C= (p.Cys484=) c.483C= (p.Cys161=) | |
| 20 | g.63414144G>T | CA409645493 | KCNQ2 | c.1521C>A (p.Cys507Ter) c.1575C>A (p.Cys525Ter) c.972C>A (p.Cys324Ter) c.1482C>A (p.Cys494Ter) c.1143C>A (p.Cys381Ter) c.1491C>A (p.Cys497Ter) c.1455C>A (p.Cys485Ter) c.632C>A c.183C>A (p.Cys61Ter) c.1572C>A (p.Cys524Ter) c.1545C>A (p.Cys515Ter) c.1449C>A (p.Cys483Ter) c.1056C>A (p.Cys352Ter) c.1518C>A (p.Cys506Ter) c.1452C>A (p.Cys484Ter) c.483C>A (p.Cys161Ter) | gnomAD v4 |
| 20 | g.63414145C>A | CA409645495 | KCNQ2 | c.1520G>T (p.Cys507Phe) c.1574G>T (p.Cys525Phe) c.971G>T (p.Cys324Phe) c.1481G>T (p.Cys494Phe) c.1142G>T (p.Cys381Phe) c.1490G>T (p.Cys497Phe) c.1454G>T (p.Cys485Phe) c.631G>T c.182G>T (p.Cys61Phe) c.1571G>T (p.Cys524Phe) c.1544G>T (p.Cys515Phe) c.1448G>T (p.Cys483Phe) c.1055G>T (p.Cys352Phe) c.1517G>T (p.Cys506Phe) c.1451G>T (p.Cys484Phe) c.482G>T (p.Cys161Phe) | |
| 20 | g.63414145C>G | CA409645496 | KCNQ2 | c.1520G>C (p.Cys507Ser) c.1574G>C (p.Cys525Ser) c.971G>C (p.Cys324Ser) c.1481G>C (p.Cys494Ser) c.1142G>C (p.Cys381Ser) c.1490G>C (p.Cys497Ser) c.1454G>C (p.Cys485Ser) c.631G>C c.182G>C (p.Cys61Ser) c.1571G>C (p.Cys524Ser) c.1544G>C (p.Cys515Ser) c.1448G>C (p.Cys483Ser) c.1055G>C (p.Cys352Ser) c.1517G>C (p.Cys506Ser) c.1451G>C (p.Cys484Ser) c.482G>C (p.Cys161Ser) | |
| 20 | g.63414145C>T | CA409645500 | KCNQ2 | c.1520G>A (p.Cys507Tyr) c.1574G>A (p.Cys525Tyr) c.971G>A (p.Cys324Tyr) c.1481G>A (p.Cys494Tyr) c.1142G>A (p.Cys381Tyr) c.1490G>A (p.Cys497Tyr) c.1454G>A (p.Cys485Tyr) c.631G>A c.182G>A (p.Cys61Tyr) c.1571G>A (p.Cys524Tyr) c.1544G>A (p.Cys515Tyr) c.1448G>A (p.Cys483Tyr) c.1055G>A (p.Cys352Tyr) c.1517G>A (p.Cys506Tyr) c.1451G>A (p.Cys484Tyr) c.482G>A (p.Cys161Tyr) | |
| 20 | g.63414146A= | CA2374778315 | KCNQ2 | c.1519T= (p.Cys507=) c.1573T= (p.Cys525=) c.970T= (p.Cys324=) c.1480T= (p.Cys494=) c.1141T= (p.Cys381=) c.1489T= (p.Cys497=) c.1453T= (p.Cys485=) c.630T= c.181T= (p.Cys61=) c.1570T= (p.Cys524=) c.1543T= (p.Cys515=) c.1447T= (p.Cys483=) c.1054T= (p.Cys352=) c.1516T= (p.Cys506=) c.1450T= (p.Cys484=) c.481T= (p.Cys161=) | |
| 20 | g.63414146A>C | CA409645503 | KCNQ2 | c.1519T>G (p.Cys507Gly) c.1573T>G (p.Cys525Gly) c.970T>G (p.Cys324Gly) c.1480T>G (p.Cys494Gly) c.1141T>G (p.Cys381Gly) c.1489T>G (p.Cys497Gly) c.1453T>G (p.Cys485Gly) c.630T>G c.181T>G (p.Cys61Gly) c.1570T>G (p.Cys524Gly) c.1543T>G (p.Cys515Gly) c.1447T>G (p.Cys483Gly) c.1054T>G (p.Cys352Gly) c.1516T>G (p.Cys506Gly) c.1450T>G (p.Cys484Gly) c.481T>G (p.Cys161Gly) | |
| 20 | g.63414146A>G | CA409645506 | KCNQ2 | c.1519T>C (p.Cys507Arg) c.1573T>C (p.Cys525Arg) c.970T>C (p.Cys324Arg) c.1480T>C (p.Cys494Arg) c.1141T>C (p.Cys381Arg) c.1489T>C (p.Cys497Arg) c.1453T>C (p.Cys485Arg) c.630T>C c.181T>C (p.Cys61Arg) c.1570T>C (p.Cys524Arg) c.1543T>C (p.Cys515Arg) c.1447T>C (p.Cys483Arg) c.1054T>C (p.Cys352Arg) c.1516T>C (p.Cys506Arg) c.1450T>C (p.Cys484Arg) c.481T>C (p.Cys161Arg) | |
| 20 | g.63414146A>T | CA315449 | KCNQ2 | c.1519T>A (p.Cys507Ser) c.1573T>A (p.Cys525Ser) c.970T>A (p.Cys324Ser) c.1480T>A (p.Cys494Ser) c.1141T>A (p.Cys381Ser) c.1489T>A (p.Cys497Ser) c.1453T>A (p.Cys485Ser) c.630T>A c.181T>A (p.Cys61Ser) c.1570T>A (p.Cys524Ser) c.1543T>A (p.Cys515Ser) c.1447T>A (p.Cys483Ser) c.1054T>A (p.Cys352Ser) c.1516T>A (p.Cys506Ser) c.1450T>A (p.Cys484Ser) c.481T>A (p.Cys161Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414147G>A | CA9958404 | KCNQ2 | c.1518C>T (p.Pro506=) c.1572C>T (p.Pro524=) c.969C>T (p.Pro323=) c.1479C>T (p.Pro493=) c.1140C>T (p.Pro380=) c.1488C>T (p.Pro496=) c.1452C>T (p.Pro484=) c.629C>T c.180C>T (p.Pro60=) c.1569C>T (p.Pro523=) c.1542C>T (p.Pro514=) c.1446C>T (p.Pro482=) c.1053C>T (p.Pro351=) c.1515C>T (p.Pro505=) c.1449C>T (p.Pro483=) c.480C>T (p.Pro160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63414147G>C | CA511203912 | KCNQ2 | c.1518C>G (p.Pro506=) c.1572C>G (p.Pro524=) c.969C>G (p.Pro323=) c.1479C>G (p.Pro493=) c.1140C>G (p.Pro380=) c.1488C>G (p.Pro496=) c.1452C>G (p.Pro484=) c.629C>G c.180C>G (p.Pro60=) c.1569C>G (p.Pro523=) c.1542C>G (p.Pro514=) c.1446C>G (p.Pro482=) c.1053C>G (p.Pro351=) c.1515C>G (p.Pro505=) c.1449C>G (p.Pro483=) c.480C>G (p.Pro160=) | |
| 20 | g.63414147G= | CA2374778316 | KCNQ2 | c.1518C= (p.Pro506=) c.1572C= (p.Pro524=) c.969C= (p.Pro323=) c.1479C= (p.Pro493=) c.1140C= (p.Pro380=) c.1488C= (p.Pro496=) c.1452C= (p.Pro484=) c.629C= c.180C= (p.Pro60=) c.1569C= (p.Pro523=) c.1542C= (p.Pro514=) c.1446C= (p.Pro482=) c.1053C= (p.Pro351=) c.1515C= (p.Pro505=) c.1449C= (p.Pro483=) c.480C= (p.Pro160=) | |
| 20 | g.63414147G>T | CA511203913 | KCNQ2 | c.1518C>A (p.Pro506=) c.1572C>A (p.Pro524=) c.969C>A (p.Pro323=) c.1479C>A (p.Pro493=) c.1140C>A (p.Pro380=) c.1488C>A (p.Pro496=) c.1452C>A (p.Pro484=) c.629C>A c.180C>A (p.Pro60=) c.1569C>A (p.Pro523=) c.1542C>A (p.Pro514=) c.1446C>A (p.Pro482=) c.1053C>A (p.Pro351=) c.1515C>A (p.Pro505=) c.1449C>A (p.Pro483=) c.480C>A (p.Pro160=) | |
| 20 | g.63414148G>A | CA409645510 | KCNQ2 | c.1517C>T (p.Pro506Leu) c.1571C>T (p.Pro524Leu) c.968C>T (p.Pro323Leu) c.1478C>T (p.Pro493Leu) c.1139C>T (p.Pro380Leu) c.1487C>T (p.Pro496Leu) c.1451C>T (p.Pro484Leu) c.628C>T c.179C>T (p.Pro60Leu) c.1568C>T (p.Pro523Leu) c.1541C>T (p.Pro514Leu) c.1445C>T (p.Pro482Leu) c.1052C>T (p.Pro351Leu) c.1514C>T (p.Pro505Leu) c.1448C>T (p.Pro483Leu) c.479C>T (p.Pro160Leu) | gnomAD v4 |
| 20 | g.63414148G>C | CA409645513 | KCNQ2 | c.1517C>G (p.Pro506Arg) c.1571C>G (p.Pro524Arg) c.968C>G (p.Pro323Arg) c.1478C>G (p.Pro493Arg) c.1139C>G (p.Pro380Arg) c.1487C>G (p.Pro496Arg) c.1451C>G (p.Pro484Arg) c.628C>G c.179C>G (p.Pro60Arg) c.1568C>G (p.Pro523Arg) c.1541C>G (p.Pro514Arg) c.1445C>G (p.Pro482Arg) c.1052C>G (p.Pro351Arg) c.1514C>G (p.Pro505Arg) c.1448C>G (p.Pro483Arg) c.479C>G (p.Pro160Arg) | |
| 20 | g.63414148G>T | CA409645516 | KCNQ2 | c.1517C>A (p.Pro506His) c.1571C>A (p.Pro524His) c.968C>A (p.Pro323His) c.1478C>A (p.Pro493His) c.1139C>A (p.Pro380His) c.1487C>A (p.Pro496His) c.1451C>A (p.Pro484His) c.628C>A c.179C>A (p.Pro60His) c.1568C>A (p.Pro523His) c.1541C>A (p.Pro514His) c.1445C>A (p.Pro482His) c.1052C>A (p.Pro351His) c.1514C>A (p.Pro505His) c.1448C>A (p.Pro483His) c.479C>A (p.Pro160His) | dbSNP |
| 20 | g.63414149G>A | CA409645520 | KCNQ2 | c.1516C>T (p.Pro506Ser) c.1570C>T (p.Pro524Ser) c.967C>T (p.Pro323Ser) c.1477C>T (p.Pro493Ser) c.1138C>T (p.Pro380Ser) c.1486C>T (p.Pro496Ser) c.1450C>T (p.Pro484Ser) c.627C>T c.178C>T (p.Pro60Ser) c.1567C>T (p.Pro523Ser) c.1540C>T (p.Pro514Ser) c.1444C>T (p.Pro482Ser) c.1051C>T (p.Pro351Ser) c.1513C>T (p.Pro505Ser) c.1447C>T (p.Pro483Ser) c.478C>T (p.Pro160Ser) | |
| 20 | g.63414149G>C | CA409645523 | KCNQ2 | c.1516C>G (p.Pro506Ala) c.1570C>G (p.Pro524Ala) c.967C>G (p.Pro323Ala) c.1477C>G (p.Pro493Ala) c.1138C>G (p.Pro380Ala) c.1486C>G (p.Pro496Ala) c.1450C>G (p.Pro484Ala) c.627C>G c.178C>G (p.Pro60Ala) c.1567C>G (p.Pro523Ala) c.1540C>G (p.Pro514Ala) c.1444C>G (p.Pro482Ala) c.1051C>G (p.Pro351Ala) c.1513C>G (p.Pro505Ala) c.1447C>G (p.Pro483Ala) c.478C>G (p.Pro160Ala) | |
| 20 | g.63414149G>T | CA409645525 | KCNQ2 | c.1516C>A (p.Pro506Thr) c.1570C>A (p.Pro524Thr) c.967C>A (p.Pro323Thr) c.1477C>A (p.Pro493Thr) c.1138C>A (p.Pro380Thr) c.1486C>A (p.Pro496Thr) c.1450C>A (p.Pro484Thr) c.627C>A c.178C>A (p.Pro60Thr) c.1567C>A (p.Pro523Thr) c.1540C>A (p.Pro514Thr) c.1444C>A (p.Pro482Thr) c.1051C>A (p.Pro351Thr) c.1513C>A (p.Pro505Thr) c.1447C>A (p.Pro483Thr) c.478C>A (p.Pro160Thr) | |
| 20 | g.63414150G>A | CA511203915 | KCNQ2 | c.1515C>T (p.Cys505=) c.1569C>T (p.Cys523=) c.966C>T (p.Cys322=) c.1476C>T (p.Cys492=) c.1137C>T (p.Cys379=) c.1485C>T (p.Cys495=) c.1449C>T (p.Cys483=) c.626C>T c.177C>T (p.Cys59=) c.1566C>T (p.Cys522=) c.1539C>T (p.Cys513=) c.1443C>T (p.Cys481=) c.1050C>T (p.Cys350=) c.1512C>T (p.Cys504=) c.1446C>T (p.Cys482=) c.477C>T (p.Cys159=) | dbSNP |
| 20 | g.63414150G>C | CA409645528 | KCNQ2 | c.1515C>G (p.Cys505Trp) c.1569C>G (p.Cys523Trp) c.966C>G (p.Cys322Trp) c.1476C>G (p.Cys492Trp) c.1137C>G (p.Cys379Trp) c.1485C>G (p.Cys495Trp) c.1449C>G (p.Cys483Trp) c.626C>G c.177C>G (p.Cys59Trp) c.1566C>G (p.Cys522Trp) c.1539C>G (p.Cys513Trp) c.1443C>G (p.Cys481Trp) c.1050C>G (p.Cys350Trp) c.1512C>G (p.Cys504Trp) c.1446C>G (p.Cys482Trp) c.477C>G (p.Cys159Trp) | gnomAD v4 |
| 20 | g.63414150G>T | CA409645530 | KCNQ2 | c.1515C>A (p.Cys505Ter) c.1569C>A (p.Cys523Ter) c.966C>A (p.Cys322Ter) c.1476C>A (p.Cys492Ter) c.1137C>A (p.Cys379Ter) c.1485C>A (p.Cys495Ter) c.1449C>A (p.Cys483Ter) c.626C>A c.177C>A (p.Cys59Ter) c.1566C>A (p.Cys522Ter) c.1539C>A (p.Cys513Ter) c.1443C>A (p.Cys481Ter) c.1050C>A (p.Cys350Ter) c.1512C>A (p.Cys504Ter) c.1446C>A (p.Cys482Ter) c.477C>A (p.Cys159Ter) | |
| 20 | g.63414151C>A | CA409645533 | KCNQ2 | c.1514G>T (p.Cys505Phe) c.1568G>T (p.Cys523Phe) c.965G>T (p.Cys322Phe) c.1475G>T (p.Cys492Phe) c.1136G>T (p.Cys379Phe) c.1484G>T (p.Cys495Phe) c.1448G>T (p.Cys483Phe) c.625G>T c.176G>T (p.Cys59Phe) c.1565G>T (p.Cys522Phe) c.1538G>T (p.Cys513Phe) c.1442G>T (p.Cys481Phe) c.1049G>T (p.Cys350Phe) c.1511G>T (p.Cys504Phe) c.1445G>T (p.Cys482Phe) c.476G>T (p.Cys159Phe) | |
| 20 | g.63414151C>G | CA409645536 | KCNQ2 | c.1514G>C (p.Cys505Ser) c.1568G>C (p.Cys523Ser) c.965G>C (p.Cys322Ser) c.1475G>C (p.Cys492Ser) c.1136G>C (p.Cys379Ser) c.1484G>C (p.Cys495Ser) c.1448G>C (p.Cys483Ser) c.625G>C c.176G>C (p.Cys59Ser) c.1565G>C (p.Cys522Ser) c.1538G>C (p.Cys513Ser) c.1442G>C (p.Cys481Ser) c.1049G>C (p.Cys350Ser) c.1511G>C (p.Cys504Ser) c.1445G>C (p.Cys482Ser) c.476G>C (p.Cys159Ser) | |
| 20 | g.63414151C>T | CA409645542 | KCNQ2 | c.1514G>A (p.Cys505Tyr) c.1568G>A (p.Cys523Tyr) c.965G>A (p.Cys322Tyr) c.1475G>A (p.Cys492Tyr) c.1136G>A (p.Cys379Tyr) c.1484G>A (p.Cys495Tyr) c.1448G>A (p.Cys483Tyr) c.625G>A c.176G>A (p.Cys59Tyr) c.1565G>A (p.Cys522Tyr) c.1538G>A (p.Cys513Tyr) c.1442G>A (p.Cys481Tyr) c.1049G>A (p.Cys350Tyr) c.1511G>A (p.Cys504Tyr) c.1445G>A (p.Cys482Tyr) c.476G>A (p.Cys159Tyr) | dbSNP gnomAD v3 gnomAD v4 |