Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.98393909_98399093del | CA2499216316 | CNGA3 | c.785-1935_*1838del c.839-1935_*1838del | ClinVar |
2 | g.98396661G>A | CA427820000 | CNGA3 | c.1491G>A (p.Lys497=) c.1503G>A (p.Lys501=) c.1437G>A (p.Lys479=) c.1602G>A (p.Lys534=) c.1656G>A (p.Lys552=) | |
2 | g.98396661G>C | CA347833663 | CNGA3 | c.1491G>C (p.Lys497Asn) c.1503G>C (p.Lys501Asn) c.1437G>C (p.Lys479Asn) c.1602G>C (p.Lys534Asn) c.1656G>C (p.Lys552Asn) | |
2 | g.98396661G= | CA1273420005 | CNGA3 | c.1491G= (p.Lys497=) c.1503G= (p.Lys501=) c.1437G= (p.Lys479=) c.1602G= (p.Lys534=) c.1656G= (p.Lys552=) | |
2 | g.98396661G>T | CA347833664 | CNGA3 | c.1491G>T (p.Lys497Asn) c.1503G>T (p.Lys501Asn) c.1437G>T (p.Lys479Asn) c.1602G>T (p.Lys534Asn) c.1656G>T (p.Lys552Asn) | dbSNP gnomAD v4 |
2 | g.98396662C>A | CA347833665 | CNGA3 | c.1492C>A (p.Leu498Met) c.1504C>A (p.Leu502Met) c.1438C>A (p.Leu480Met) c.1603C>A (p.Leu535Met) c.1657C>A (p.Leu553Met) | |
2 | g.98396662C= | CA1273420006 | CNGA3 | c.1492C= (p.Leu498=) c.1504C= (p.Leu502=) c.1438C= (p.Leu480=) c.1603C= (p.Leu535=) c.1657C= (p.Leu553=) | |
2 | g.98396662C>G | CA347833666 | CNGA3 | c.1492C>G (p.Leu498Val) c.1504C>G (p.Leu502Val) c.1438C>G (p.Leu480Val) c.1603C>G (p.Leu535Val) c.1657C>G (p.Leu553Val) | |
2 | g.98396662C>T | CA52635794 | CNGA3 | c.1492C>T (p.Leu498=) c.1504C>T (p.Leu502=) c.1438C>T (p.Leu480=) c.1603C>T (p.Leu535=) c.1657C>T (p.Leu553=) | dbSNP gnomAD v4 |
2 | g.98396663T>A | CA347833667 | CNGA3 | c.1493T>A (p.Leu498Gln) c.1505T>A (p.Leu502Gln) c.1439T>A (p.Leu480Gln) c.1604T>A (p.Leu535Gln) c.1658T>A (p.Leu553Gln) | |
2 | g.98396663T>C | CA347833668 | CNGA3 | c.1493T>C (p.Leu498Pro) c.1505T>C (p.Leu502Pro) c.1439T>C (p.Leu480Pro) c.1604T>C (p.Leu535Pro) c.1658T>C (p.Leu553Pro) | |
2 | g.98396663T>G | CA347833669 | CNGA3 | c.1493T>G (p.Leu498Arg) c.1505T>G (p.Leu502Arg) c.1439T>G (p.Leu480Arg) c.1604T>G (p.Leu535Arg) c.1658T>G (p.Leu553Arg) | |
2 | g.98396664G>A | CA427820002 | CNGA3 | c.1494G>A (p.Leu498=) c.1506G>A (p.Leu502=) c.1440G>A (p.Leu480=) c.1605G>A (p.Leu535=) c.1659G>A (p.Leu553=) | |
2 | g.98396664G>C | CA427820004 | CNGA3 | c.1494G>C (p.Leu498=) c.1506G>C (p.Leu502=) c.1440G>C (p.Leu480=) c.1605G>C (p.Leu535=) c.1659G>C (p.Leu553=) | |
2 | g.98396664G>T | CA427820003 | CNGA3 | c.1494G>T (p.Leu498=) c.1506G>T (p.Leu502=) c.1440G>T (p.Leu480=) c.1605G>T (p.Leu535=) c.1659G>T (p.Leu553=) | |
2 | g.98396665C>A | CA427820005 | CNGA3 | c.1495C>A (p.Arg499=) c.1507C>A (p.Arg503=) c.1441C>A (p.Arg481=) c.1606C>A (p.Arg536=) c.1660C>A (p.Arg554=) | |
2 | g.98396665C= | CA1273420007 | CNGA3 | c.1495C= (p.Arg499=) c.1507C= (p.Arg503=) c.1441C= (p.Arg481=) c.1606C= (p.Arg536=) c.1660C= (p.Arg554=) | |
2 | g.98396665C>G | CA347833670 | CNGA3 | c.1495C>G (p.Arg499Gly) c.1507C>G (p.Arg503Gly) c.1441C>G (p.Arg481Gly) c.1606C>G (p.Arg536Gly) c.1660C>G (p.Arg554Gly) | |
2 | g.98396665C>T | CA347833671 | CNGA3 | c.1495C>T (p.Arg499Ter) c.1507C>T (p.Arg503Ter) c.1441C>T (p.Arg481Ter) c.1606C>T (p.Arg536Ter) c.1660C>T (p.Arg554Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396666G>A | CA1794020 | CNGA3 | c.1496G>A (p.Arg499Gln) c.1508G>A (p.Arg503Gln) c.1442G>A (p.Arg481Gln) c.1607G>A (p.Arg536Gln) c.1661G>A (p.Arg554Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.98396666G>C | CA347833672 | CNGA3 | c.1496G>C (p.Arg499Pro) c.1508G>C (p.Arg503Pro) c.1442G>C (p.Arg481Pro) c.1607G>C (p.Arg536Pro) c.1661G>C (p.Arg554Pro) | |
2 | g.98396666G= | CA1273420008 | CNGA3 | c.1496G= (p.Arg499=) c.1508G= (p.Arg503=) c.1442G= (p.Arg481=) c.1607G= (p.Arg536=) c.1661G= (p.Arg554=) | |
2 | g.98396666G>T | CA52635800 | CNGA3 | c.1496G>T (p.Arg499Leu) c.1508G>T (p.Arg503Leu) c.1442G>T (p.Arg481Leu) c.1607G>T (p.Arg536Leu) c.1661G>T (p.Arg554Leu) | dbSNP |
2 | g.98396667A>C | CA427820006 | CNGA3 | c.1497A>C (p.Arg499=) c.1509A>C (p.Arg503=) c.1443A>C (p.Arg481=) c.1608A>C (p.Arg536=) c.1662A>C (p.Arg554=) | |
2 | g.98396667A>G | CA427820007 | CNGA3 | c.1497A>G (p.Arg499=) c.1509A>G (p.Arg503=) c.1443A>G (p.Arg481=) c.1608A>G (p.Arg536=) c.1662A>G (p.Arg554=) | |
2 | g.98396667A>T | CA427820008 | CNGA3 | c.1497A>T (p.Arg499=) c.1509A>T (p.Arg503=) c.1443A>T (p.Arg481=) c.1608A>T (p.Arg536=) c.1662A>T (p.Arg554=) | |
2 | g.98396668C>A | CA347833673 | CNGA3 | c.1498C>A (p.Pro500Thr) c.1510C>A (p.Pro504Thr) c.1444C>A (p.Pro482Thr) c.1609C>A (p.Pro537Thr) c.1663C>A (p.Pro555Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.98396668C= | CA1273420009 | CNGA3 | c.1498C= (p.Pro500=) c.1510C= (p.Pro504=) c.1444C= (p.Pro482=) c.1609C= (p.Pro537=) c.1663C= (p.Pro555=) | |
2 | g.98396668C>G | CA347833675 | CNGA3 | c.1498C>G (p.Pro500Ala) c.1510C>G (p.Pro504Ala) c.1444C>G (p.Pro482Ala) c.1609C>G (p.Pro537Ala) c.1663C>G (p.Pro555Ala) | gnomAD v4 |
2 | g.98396668C>T | CA347833674 | CNGA3 | c.1498C>T (p.Pro500Ser) c.1510C>T (p.Pro504Ser) c.1444C>T (p.Pro482Ser) c.1609C>T (p.Pro537Ser) c.1663C>T (p.Pro555Ser) | |
2 | g.98396669C>A | CA347833676 | CNGA3 | c.1499C>A (p.Pro500His) c.1511C>A (p.Pro504His) c.1445C>A (p.Pro482His) c.1610C>A (p.Pro537His) c.1664C>A (p.Pro555His) | |
2 | g.98396669C>G | CA347833677 | CNGA3 | c.1499C>G (p.Pro500Arg) c.1511C>G (p.Pro504Arg) c.1445C>G (p.Pro482Arg) c.1610C>G (p.Pro537Arg) c.1664C>G (p.Pro555Arg) | |
2 | g.98396669C>T | CA347833678 | CNGA3 | c.1499C>T (p.Pro500Leu) c.1511C>T (p.Pro504Leu) c.1445C>T (p.Pro482Leu) c.1610C>T (p.Pro537Leu) c.1664C>T (p.Pro555Leu) | gnomAD v4 |
2 | g.98396670C>A | CA427820011 | CNGA3 | c.1500C>A (p.Pro500=) c.1512C>A (p.Pro504=) c.1446C>A (p.Pro482=) c.1611C>A (p.Pro537=) c.1665C>A (p.Pro555=) | |
2 | g.98396670C>G | CA427820012 | CNGA3 | c.1500C>G (p.Pro500=) c.1512C>G (p.Pro504=) c.1446C>G (p.Pro482=) c.1611C>G (p.Pro537=) c.1665C>G (p.Pro555=) | |
2 | g.98396670C>T | CA427820013 | CNGA3 | c.1500C>T (p.Pro500=) c.1512C>T (p.Pro504=) c.1446C>T (p.Pro482=) c.1611C>T (p.Pro537=) c.1665C>T (p.Pro555=) | |
2 | g.98396671A= | CA1273420010 | CNGA3 | c.1501A= (p.Thr501=) c.1513A= (p.Thr505=) c.1447A= (p.Thr483=) c.1612A= (p.Thr538=) c.1666A= (p.Thr556=) | |
2 | g.98396671A>C | CA347833679 | CNGA3 | c.1501A>C (p.Thr501Pro) c.1513A>C (p.Thr505Pro) c.1447A>C (p.Thr483Pro) c.1612A>C (p.Thr538Pro) c.1666A>C (p.Thr556Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.98396671A>G | CA347833680 | CNGA3 | c.1501A>G (p.Thr501Ala) c.1513A>G (p.Thr505Ala) c.1447A>G (p.Thr483Ala) c.1612A>G (p.Thr538Ala) c.1666A>G (p.Thr556Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.98396671A>T | CA347833681 | CNGA3 | c.1501A>T (p.Thr501Ser) c.1513A>T (p.Thr505Ser) c.1447A>T (p.Thr483Ser) c.1612A>T (p.Thr538Ser) c.1666A>T (p.Thr556Ser) | |
2 | g.98396672C>A | CA347833682 | CNGA3 | c.1502C>A (p.Thr501Asn) c.1514C>A (p.Thr505Asn) c.1448C>A (p.Thr483Asn) c.1613C>A (p.Thr538Asn) c.1667C>A (p.Thr556Asn) | |
2 | g.98396672C>G | CA347833683 | CNGA3 | c.1502C>G (p.Thr501Ser) c.1514C>G (p.Thr505Ser) c.1448C>G (p.Thr483Ser) c.1613C>G (p.Thr538Ser) c.1667C>G (p.Thr556Ser) | |
2 | g.98396672C>T | CA347833684 | CNGA3 | c.1502C>T (p.Thr501Ile) c.1514C>T (p.Thr505Ile) c.1448C>T (p.Thr483Ile) c.1613C>T (p.Thr538Ile) c.1667C>T (p.Thr556Ile) | |
2 | g.98396673T>A | CA427820017 | CNGA3 | c.1503T>A (p.Thr501=) c.1515T>A (p.Thr505=) c.1449T>A (p.Thr483=) c.1614T>A (p.Thr538=) c.1668T>A (p.Thr556=) | |
2 | g.98396673T>C | CA427820018 | CNGA3 | c.1503T>C (p.Thr501=) c.1515T>C (p.Thr505=) c.1449T>C (p.Thr483=) c.1614T>C (p.Thr538=) c.1668T>C (p.Thr556=) | gnomAD v4 |
2 | g.98396673T>G | CA427820019 | CNGA3 | c.1503T>G (p.Thr501=) c.1515T>G (p.Thr505=) c.1449T>G (p.Thr483=) c.1614T>G (p.Thr538=) c.1668T>G (p.Thr556=) | dbSNP |
2 | g.98396673T= | CA1273420011 | CNGA3 | c.1503T= (p.Thr501=) c.1515T= (p.Thr505=) c.1449T= (p.Thr483=) c.1614T= (p.Thr538=) c.1668T= (p.Thr556=) | |
2 | g.98396674G>A | CA347833685 | CNGA3 | c.1504G>A (p.Val502Met) c.1516G>A (p.Val506Met) c.1450G>A (p.Val484Met) c.1615G>A (p.Val539Met) c.1669G>A (p.Val557Met) | gnomAD v4 |
2 | g.98396674G>C | CA347833686 | CNGA3 | c.1504G>C (p.Val502Leu) c.1516G>C (p.Val506Leu) c.1450G>C (p.Val484Leu) c.1615G>C (p.Val539Leu) c.1669G>C (p.Val557Leu) | |
2 | g.98396674G>T | CA347833687 | CNGA3 | c.1504G>T (p.Val502Leu) c.1516G>T (p.Val506Leu) c.1450G>T (p.Val484Leu) c.1615G>T (p.Val539Leu) c.1669G>T (p.Val557Leu) | |
2 | g.98396675T>A | CA347833690 | CNGA3 | c.1505T>A (p.Val502Glu) c.1517T>A (p.Val506Glu) c.1451T>A (p.Val484Glu) c.1616T>A (p.Val539Glu) c.1670T>A (p.Val557Glu) | |
2 | g.98396675T>C | CA347833688 | CNGA3 | c.1505T>C (p.Val502Ala) c.1517T>C (p.Val506Ala) c.1451T>C (p.Val484Ala) c.1616T>C (p.Val539Ala) c.1670T>C (p.Val557Ala) | |
2 | g.98396675T>G | CA347833689 | CNGA3 | c.1505T>G (p.Val502Gly) c.1517T>G (p.Val506Gly) c.1451T>G (p.Val484Gly) c.1616T>G (p.Val539Gly) c.1670T>G (p.Val557Gly) | |
2 | g.98396676G>A | CA427820024 | CNGA3 | c.1506G>A (p.Val502=) c.1518G>A (p.Val506=) c.1452G>A (p.Val484=) c.1617G>A (p.Val539=) c.1671G>A (p.Val557=) | COSMIC |
2 | g.98396676G>C | CA427820026 | CNGA3 | c.1506G>C (p.Val502=) c.1518G>C (p.Val506=) c.1452G>C (p.Val484=) c.1617G>C (p.Val539=) c.1671G>C (p.Val557=) | |
2 | g.98396676G>T | CA427820028 | CNGA3 | c.1506G>T (p.Val502=) c.1518G>T (p.Val506=) c.1452G>T (p.Val484=) c.1617G>T (p.Val539=) c.1671G>T (p.Val557=) | |
2 | g.98396677T>A | CA347833691 | CNGA3 | c.1507T>A (p.Phe503Ile) c.1519T>A (p.Phe507Ile) c.1453T>A (p.Phe485Ile) c.1618T>A (p.Phe540Ile) c.1672T>A (p.Phe558Ile) | |
2 | g.98396677T>C | CA347833692 | CNGA3 | c.1507T>C (p.Phe503Leu) c.1519T>C (p.Phe507Leu) c.1453T>C (p.Phe485Leu) c.1618T>C (p.Phe540Leu) c.1672T>C (p.Phe558Leu) | |
2 | g.98396677T>G | CA347833693 | CNGA3 | c.1507T>G (p.Phe503Val) c.1519T>G (p.Phe507Val) c.1453T>G (p.Phe485Val) c.1618T>G (p.Phe540Val) c.1672T>G (p.Phe558Val) | |
2 | g.98396678T>A | CA1794021 | CNGA3 | c.1508T>A (p.Phe503Tyr) c.1520T>A (p.Phe507Tyr) c.1454T>A (p.Phe485Tyr) c.1619T>A (p.Phe540Tyr) c.1673T>A (p.Phe558Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396678T>C | CA347833694 | CNGA3 | c.1508T>C (p.Phe503Ser) c.1520T>C (p.Phe507Ser) c.1454T>C (p.Phe485Ser) c.1619T>C (p.Phe540Ser) c.1673T>C (p.Phe558Ser) | |
2 | g.98396678T>G | CA347833695 | CNGA3 | c.1508T>G (p.Phe503Cys) c.1520T>G (p.Phe507Cys) c.1454T>G (p.Phe485Cys) c.1619T>G (p.Phe540Cys) c.1673T>G (p.Phe558Cys) | |
2 | g.98396678T= | CA1273420012 | CNGA3 | c.1508T= (p.Phe503=) c.1520T= (p.Phe507=) c.1454T= (p.Phe485=) c.1619T= (p.Phe540=) c.1673T= (p.Phe558=) | |
2 | g.98396679C>A | CA347833696 | CNGA3 | c.1509C>A (p.Phe503Leu) c.1521C>A (p.Phe507Leu) c.1455C>A (p.Phe485Leu) c.1620C>A (p.Phe540Leu) c.1674C>A (p.Phe558Leu) | |
2 | g.98396679C>G | CA347833697 | CNGA3 | c.1509C>G (p.Phe503Leu) c.1521C>G (p.Phe507Leu) c.1455C>G (p.Phe485Leu) c.1620C>G (p.Phe540Leu) c.1674C>G (p.Phe558Leu) | |
2 | g.98396679C>T | CA427820030 | CNGA3 | c.1509C>T (p.Phe503=) c.1521C>T (p.Phe507=) c.1455C>T (p.Phe485=) c.1620C>T (p.Phe540=) c.1674C>T (p.Phe558=) | |
2 | g.98396680A= | CA1273420013 | CNGA3 | c.1510A= (p.Ser504=) c.1522A= (p.Ser508=) c.1456A= (p.Ser486=) c.1621A= (p.Ser541=) c.1675A= (p.Ser559=) | |
2 | g.98396680A>C | CA347833698 | CNGA3 | c.1510A>C (p.Ser504Arg) c.1522A>C (p.Ser508Arg) c.1456A>C (p.Ser486Arg) c.1621A>C (p.Ser541Arg) c.1675A>C (p.Ser559Arg) | COSMIC |
2 | g.98396680A>G | CA347833699 | CNGA3 | c.1510A>G (p.Ser504Gly) c.1522A>G (p.Ser508Gly) c.1456A>G (p.Ser486Gly) c.1621A>G (p.Ser541Gly) c.1675A>G (p.Ser559Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.98396680A>T | CA347833700 | CNGA3 | c.1510A>T (p.Ser504Cys) c.1522A>T (p.Ser508Cys) c.1456A>T (p.Ser486Cys) c.1621A>T (p.Ser541Cys) c.1675A>T (p.Ser559Cys) | |
2 | g.98396681G>A | CA347833702 | CNGA3 | c.1511G>A (p.Ser504Asn) c.1523G>A (p.Ser508Asn) c.1457G>A (p.Ser486Asn) c.1622G>A (p.Ser541Asn) c.1676G>A (p.Ser559Asn) | |
2 | g.98396681G>C | CA347833703 | CNGA3 | c.1511G>C (p.Ser504Thr) c.1523G>C (p.Ser508Thr) c.1457G>C (p.Ser486Thr) c.1622G>C (p.Ser541Thr) c.1676G>C (p.Ser559Thr) | |
2 | g.98396681G>T | CA347833701 | CNGA3 | c.1511G>T (p.Ser504Ile) c.1523G>T (p.Ser508Ile) c.1457G>T (p.Ser486Ile) c.1622G>T (p.Ser541Ile) c.1676G>T (p.Ser559Ile) | |
2 | g.98396682C>A | CA347833705 | CNGA3 | c.1512C>A (p.Ser504Arg) c.1524C>A (p.Ser508Arg) c.1458C>A (p.Ser486Arg) c.1623C>A (p.Ser541Arg) c.1677C>A (p.Ser559Arg) | |
2 | g.98396682C>G | CA347833704 | CNGA3 | c.1512C>G (p.Ser504Arg) c.1524C>G (p.Ser508Arg) c.1458C>G (p.Ser486Arg) c.1623C>G (p.Ser541Arg) c.1677C>G (p.Ser559Arg) | |
2 | g.98396682C>T | CA427820037 | CNGA3 | c.1512C>T (p.Ser504=) c.1524C>T (p.Ser508=) c.1458C>T (p.Ser486=) c.1623C>T (p.Ser541=) c.1677C>T (p.Ser559=) | |
2 | g.98396683C>A | CA347833706 | CNGA3 | c.1513C>A (p.Pro505Thr) c.1525C>A (p.Pro509Thr) c.1459C>A (p.Pro487Thr) c.1624C>A (p.Pro542Thr) c.1678C>A (p.Pro560Thr) | |
2 | g.98396683C>G | CA347833707 | CNGA3 | c.1513C>G (p.Pro505Ala) c.1525C>G (p.Pro509Ala) c.1459C>G (p.Pro487Ala) c.1624C>G (p.Pro542Ala) c.1678C>G (p.Pro560Ala) | |
2 | g.98396683C>T | CA347833708 | CNGA3 | c.1513C>T (p.Pro505Ser) c.1525C>T (p.Pro509Ser) c.1459C>T (p.Pro487Ser) c.1624C>T (p.Pro542Ser) c.1678C>T (p.Pro560Ser) | |
2 | g.98396684C>A | CA347833709 | CNGA3 | c.1514C>A (p.Pro505His) c.1526C>A (p.Pro509His) c.1460C>A (p.Pro487His) c.1625C>A (p.Pro542His) c.1679C>A (p.Pro560His) | |
2 | g.98396684C>G | CA347833710 | CNGA3 | c.1514C>G (p.Pro505Arg) c.1526C>G (p.Pro509Arg) c.1460C>G (p.Pro487Arg) c.1625C>G (p.Pro542Arg) c.1679C>G (p.Pro560Arg) | |
2 | g.98396684C>T | CA347833711 | CNGA3 | c.1514C>T (p.Pro505Leu) c.1526C>T (p.Pro509Leu) c.1460C>T (p.Pro487Leu) c.1625C>T (p.Pro542Leu) c.1679C>T (p.Pro560Leu) | |
2 | g.98396685T>A | CA427820044 | CNGA3 | c.1515T>A (p.Pro505=) c.1527T>A (p.Pro509=) c.1461T>A (p.Pro487=) c.1626T>A (p.Pro542=) c.1680T>A (p.Pro560=) | |
2 | g.98396685T>C | CA427820043 | CNGA3 | c.1515T>C (p.Pro505=) c.1527T>C (p.Pro509=) c.1461T>C (p.Pro487=) c.1626T>C (p.Pro542=) c.1680T>C (p.Pro560=) | gnomAD v4 |
2 | g.98396685T>G | CA1794022 | CNGA3 | c.1515T>G (p.Pro505=) c.1527T>G (p.Pro509=) c.1461T>G (p.Pro487=) c.1626T>G (p.Pro542=) c.1680T>G (p.Pro560=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396685T= | CA1273420015 | CNGA3 | c.1515T= (p.Pro505=) c.1527T= (p.Pro509=) c.1461T= (p.Pro487=) c.1626T= (p.Pro542=) c.1680T= (p.Pro560=) | |
2 | g.98396685_98396686delinsTG | CA1273420014 | CNGA3 | c.1515_1516delinsTG (p.Pro505=) c.1527_1528delinsTG (p.Pro509=) c.1461_1462delinsTG (p.Pro487=) c.1626_1627delinsTG (p.Pro542=) c.1680_1681delinsTG (p.Pro560=) | |
2 | g.98396686G>A | CA347833712 | CNGA3 | c.1516G>A (p.Gly506Arg) c.1528G>A (p.Gly510Arg) c.1462G>A (p.Gly488Arg) c.1627G>A (p.Gly543Arg) c.1681G>A (p.Gly561Arg) | |
2 | g.98396686G>C | CA347833714 | CNGA3 | c.1516G>C (p.Gly506Arg) c.1528G>C (p.Gly510Arg) c.1462G>C (p.Gly488Arg) c.1627G>C (p.Gly543Arg) c.1681G>C (p.Gly561Arg) | |
2 | g.98396686G>T | CA347833713 | CNGA3 | c.1516G>T (p.Gly506Trp) c.1528G>T (p.Gly510Trp) c.1462G>T (p.Gly488Trp) c.1627G>T (p.Gly543Trp) c.1681G>T (p.Gly561Trp) | |
2 | g.98396689del | CA1794023 | CNGA3 | c.1519del (p.Asp507IlefsTer?) c.1531del (p.Asp511IlefsTer?) c.1465del (p.Asp489IlefsTer?) c.1630del (p.Asp544IlefsTer?) c.1684del (p.Asp562IlefsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98396687G>A | CA347833715 | CNGA3 | c.1517G>A (p.Gly506Glu) c.1529G>A (p.Gly510Glu) c.1463G>A (p.Gly488Glu) c.1628G>A (p.Gly543Glu) c.1682G>A (p.Gly561Glu) | |
2 | g.98396687G>C | CA347833716 | CNGA3 | c.1517G>C (p.Gly506Ala) c.1529G>C (p.Gly510Ala) c.1463G>C (p.Gly488Ala) c.1628G>C (p.Gly543Ala) c.1682G>C (p.Gly561Ala) | |
2 | g.98396687G= | CA1273420016 | CNGA3 | c.1517G= (p.Gly506=) c.1529G= (p.Gly510=) c.1463G= (p.Gly488=) c.1628G= (p.Gly543=) c.1682G= (p.Gly561=) | |
2 | g.98396687G>T | CA347833717 | CNGA3 | c.1517G>T (p.Gly506Val) c.1529G>T (p.Gly510Val) c.1463G>T (p.Gly488Val) c.1628G>T (p.Gly543Val) c.1682G>T (p.Gly561Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.98396688G>A | CA427820049 | CNGA3 | c.1518G>A (p.Gly506=) c.1530G>A (p.Gly510=) c.1464G>A (p.Gly488=) c.1629G>A (p.Gly543=) c.1683G>A (p.Gly561=) | gnomAD v4 |
2 | g.98396688G>C | CA427820051 | CNGA3 | c.1518G>C (p.Gly506=) c.1530G>C (p.Gly510=) c.1464G>C (p.Gly488=) c.1629G>C (p.Gly543=) c.1683G>C (p.Gly561=) | |
2 | g.98396688G>T | CA427820052 | CNGA3 | c.1518G>T (p.Gly506=) c.1530G>T (p.Gly510=) c.1464G>T (p.Gly488=) c.1629G>T (p.Gly543=) c.1683G>T (p.Gly561=) | |
2 | g.98396689G>A | CA347833718 | CNGA3 | c.1519G>A (p.Asp507Asn) c.1531G>A (p.Asp511Asn) c.1465G>A (p.Asp489Asn) c.1630G>A (p.Asp544Asn) c.1684G>A (p.Asp562Asn) | |
2 | g.98396689G>C | CA347833720 | CNGA3 | c.1519G>C (p.Asp507His) c.1531G>C (p.Asp511His) c.1465G>C (p.Asp489His) c.1630G>C (p.Asp544His) c.1684G>C (p.Asp562His) | |
2 | g.98396689G>T | CA347833719 | CNGA3 | c.1519G>T (p.Asp507Tyr) c.1531G>T (p.Asp511Tyr) c.1465G>T (p.Asp489Tyr) c.1630G>T (p.Asp544Tyr) c.1684G>T (p.Asp562Tyr) | |
2 | g.98396690A= | CA1273420017 | CNGA3 | c.1520A= (p.Asp507=) c.1532A= (p.Asp511=) c.1466A= (p.Asp489=) c.1631A= (p.Asp544=) c.1685A= (p.Asp562=) | |
2 | g.98396690A>C | CA347833721 | CNGA3 | c.1520A>C (p.Asp507Ala) c.1532A>C (p.Asp511Ala) c.1466A>C (p.Asp489Ala) c.1631A>C (p.Asp544Ala) c.1685A>C (p.Asp562Ala) | |
2 | g.98396690A>G | CA1794025 | CNGA3 | c.1520A>G (p.Asp507Gly) c.1532A>G (p.Asp511Gly) c.1466A>G (p.Asp489Gly) c.1631A>G (p.Asp544Gly) c.1685A>G (p.Asp562Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396690A>T | CA1794024 | CNGA3 | c.1520A>T (p.Asp507Val) c.1532A>T (p.Asp511Val) c.1466A>T (p.Asp489Val) c.1631A>T (p.Asp544Val) c.1685A>T (p.Asp562Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396691T>A | CA347833722 | CNGA3 | c.1521T>A (p.Asp507Glu) c.1533T>A (p.Asp511Glu) c.1467T>A (p.Asp489Glu) c.1632T>A (p.Asp544Glu) c.1686T>A (p.Asp562Glu) | |
2 | g.98396691T>C | CA427820054 | CNGA3 | c.1521T>C (p.Asp507=) c.1533T>C (p.Asp511=) c.1467T>C (p.Asp489=) c.1632T>C (p.Asp544=) c.1686T>C (p.Asp562=) | gnomAD v4 |
2 | g.98396691T>G | CA347833723 | CNGA3 | c.1521T>G (p.Asp507Glu) c.1533T>G (p.Asp511Glu) c.1467T>G (p.Asp489Glu) c.1632T>G (p.Asp544Glu) c.1686T>G (p.Asp562Glu) | |
2 | g.98396692T>A | CA347833724 | CNGA3 | c.1522T>A (p.Tyr508Asn) c.1534T>A (p.Tyr512Asn) c.1468T>A (p.Tyr490Asn) c.1633T>A (p.Tyr545Asn) c.1687T>A (p.Tyr563Asn) | |
2 | g.98396692T>C | CA1794026 | CNGA3 | c.1522T>C (p.Tyr508His) c.1534T>C (p.Tyr512His) c.1468T>C (p.Tyr490His) c.1633T>C (p.Tyr545His) c.1687T>C (p.Tyr563His) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.98396692T>G | CA347833725 | CNGA3 | c.1522T>G (p.Tyr508Asp) c.1534T>G (p.Tyr512Asp) c.1468T>G (p.Tyr490Asp) c.1633T>G (p.Tyr545Asp) c.1687T>G (p.Tyr563Asp) | |
2 | g.98396692T= | CA1273420018 | CNGA3 | c.1522T= (p.Tyr508=) c.1534T= (p.Tyr512=) c.1468T= (p.Tyr490=) c.1633T= (p.Tyr545=) c.1687T= (p.Tyr563=) | |
2 | g.98396693A= | CA1273420019 | CNGA3 | c.1523A= (p.Tyr508=) c.1535A= (p.Tyr512=) c.1469A= (p.Tyr490=) c.1634A= (p.Tyr545=) c.1688A= (p.Tyr563=) | |
2 | g.98396693A>C | CA347833726 | CNGA3 | c.1523A>C (p.Tyr508Ser) c.1535A>C (p.Tyr512Ser) c.1469A>C (p.Tyr490Ser) c.1634A>C (p.Tyr545Ser) c.1688A>C (p.Tyr563Ser) | |
2 | g.98396693A>G | CA347833727 | CNGA3 | c.1523A>G (p.Tyr508Cys) c.1535A>G (p.Tyr512Cys) c.1469A>G (p.Tyr490Cys) c.1634A>G (p.Tyr545Cys) c.1688A>G (p.Tyr563Cys) | |
2 | g.98396693A>T | CA1794027 | CNGA3 | c.1523A>T (p.Tyr508Phe) c.1535A>T (p.Tyr512Phe) c.1469A>T (p.Tyr490Phe) c.1634A>T (p.Tyr545Phe) c.1688A>T (p.Tyr563Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396694T>A | CA347833729 | CNGA3 | c.1524T>A (p.Tyr508Ter) c.1536T>A (p.Tyr512Ter) c.1470T>A (p.Tyr490Ter) c.1635T>A (p.Tyr545Ter) c.1689T>A (p.Tyr563Ter) | |
2 | g.98396694T>C | CA427820058 | CNGA3 | c.1524T>C (p.Tyr508=) c.1536T>C (p.Tyr512=) c.1470T>C (p.Tyr490=) c.1635T>C (p.Tyr545=) c.1689T>C (p.Tyr563=) | gnomAD v4 |
2 | g.98396694T>G | CA347833728 | CNGA3 | c.1524T>G (p.Tyr508Ter) c.1536T>G (p.Tyr512Ter) c.1470T>G (p.Tyr490Ter) c.1635T>G (p.Tyr545Ter) c.1689T>G (p.Tyr563Ter) | |
2 | g.98396695A= | CA1273420020 | CNGA3 | c.1525A= (p.Ile509=) c.1537A= (p.Ile513=) c.1471A= (p.Ile491=) c.1636A= (p.Ile546=) c.1690A= (p.Ile564=) | |
2 | g.98396695A>C | CA347833730 | CNGA3 | c.1525A>C (p.Ile509Leu) c.1537A>C (p.Ile513Leu) c.1471A>C (p.Ile491Leu) c.1636A>C (p.Ile546Leu) c.1690A>C (p.Ile564Leu) | |
2 | g.98396695A>G | CA347833731 | CNGA3 | c.1525A>G (p.Ile509Val) c.1537A>G (p.Ile513Val) c.1471A>G (p.Ile491Val) c.1636A>G (p.Ile546Val) c.1690A>G (p.Ile564Val) | ClinVar dbSNP gnomAD v4 |
2 | g.98396695A>T | CA347833732 | CNGA3 | c.1525A>T (p.Ile509Phe) c.1537A>T (p.Ile513Phe) c.1471A>T (p.Ile491Phe) c.1636A>T (p.Ile546Phe) c.1690A>T (p.Ile564Phe) | |
2 | g.98396696T>A | CA347833733 | CNGA3 | c.1526T>A (p.Ile509Asn) c.1538T>A (p.Ile513Asn) c.1472T>A (p.Ile491Asn) c.1637T>A (p.Ile546Asn) c.1691T>A (p.Ile564Asn) | |
2 | g.98396696T>C | CA347833734 | CNGA3 | c.1526T>C (p.Ile509Thr) c.1538T>C (p.Ile513Thr) c.1472T>C (p.Ile491Thr) c.1637T>C (p.Ile546Thr) c.1691T>C (p.Ile564Thr) | dbSNP gnomAD v4 |
2 | g.98396696T>G | CA347833735 | CNGA3 | c.1526T>G (p.Ile509Ser) c.1538T>G (p.Ile513Ser) c.1472T>G (p.Ile491Ser) c.1637T>G (p.Ile546Ser) c.1691T>G (p.Ile564Ser) | |
2 | g.98396696T= | CA1273420021 | CNGA3 | c.1526T= (p.Ile509=) c.1538T= (p.Ile513=) c.1472T= (p.Ile491=) c.1637T= (p.Ile546=) c.1691T= (p.Ile564=) | |
2 | g.98396697C>A | CA427820062 | CNGA3 | c.1527C>A (p.Ile509=) c.1539C>A (p.Ile513=) c.1473C>A (p.Ile491=) c.1638C>A (p.Ile546=) c.1692C>A (p.Ile564=) | |
2 | g.98396697C>G | CA347833736 | CNGA3 | c.1527C>G (p.Ile509Met) c.1539C>G (p.Ile513Met) c.1473C>G (p.Ile491Met) c.1638C>G (p.Ile546Met) c.1692C>G (p.Ile564Met) | |
2 | g.98396697C>T | CA427820066 | CNGA3 | c.1527C>T (p.Ile509=) c.1539C>T (p.Ile513=) c.1473C>T (p.Ile491=) c.1638C>T (p.Ile546=) c.1692C>T (p.Ile564=) | |
2 | g.98396698T>A | CA347833739 | CNGA3 | c.1528T>A (p.Cys510Ser) c.1540T>A (p.Cys514Ser) c.1474T>A (p.Cys492Ser) c.1639T>A (p.Cys547Ser) c.1693T>A (p.Cys565Ser) | |
2 | g.98396698T>C | CA347833737 | CNGA3 | c.1528T>C (p.Cys510Arg) c.1540T>C (p.Cys514Arg) c.1474T>C (p.Cys492Arg) c.1639T>C (p.Cys547Arg) c.1693T>C (p.Cys565Arg) | |
2 | g.98396698T>G | CA347833738 | CNGA3 | c.1528T>G (p.Cys510Gly) c.1540T>G (p.Cys514Gly) c.1474T>G (p.Cys492Gly) c.1639T>G (p.Cys547Gly) c.1693T>G (p.Cys565Gly) | |
2 | g.98396699G>A | CA52635815 | CNGA3 | c.1529G>A (p.Cys510Tyr) c.1541G>A (p.Cys514Tyr) c.1475G>A (p.Cys492Tyr) c.1640G>A (p.Cys547Tyr) c.1694G>A (p.Cys565Tyr) | dbSNP |
2 | g.98396699G>C | CA347833740 | CNGA3 | c.1529G>C (p.Cys510Ser) c.1541G>C (p.Cys514Ser) c.1475G>C (p.Cys492Ser) c.1640G>C (p.Cys547Ser) c.1694G>C (p.Cys565Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.98396699G= | CA1273420022 | CNGA3 | c.1529G= (p.Cys510=) c.1541G= (p.Cys514=) c.1475G= (p.Cys492=) c.1640G= (p.Cys547=) c.1694G= (p.Cys565=) | |
2 | g.98396699G>T | CA347833741 | CNGA3 | c.1529G>T (p.Cys510Phe) c.1541G>T (p.Cys514Phe) c.1475G>T (p.Cys492Phe) c.1640G>T (p.Cys547Phe) c.1694G>T (p.Cys565Phe) | |
2 | g.98396700C>A | CA347833742 | CNGA3 | c.1530C>A (p.Cys510Ter) c.1542C>A (p.Cys514Ter) c.1476C>A (p.Cys492Ter) c.1641C>A (p.Cys547Ter) c.1695C>A (p.Cys565Ter) | |
2 | g.98396700C= | CA1273420023 | CNGA3 | c.1530C= (p.Cys510=) c.1542C= (p.Cys514=) c.1476C= (p.Cys492=) c.1641C= (p.Cys547=) c.1695C= (p.Cys565=) | |
2 | g.98396700C>G | CA347833743 | CNGA3 | c.1530C>G (p.Cys510Trp) c.1542C>G (p.Cys514Trp) c.1476C>G (p.Cys492Trp) c.1641C>G (p.Cys547Trp) c.1695C>G (p.Cys565Trp) | |
2 | g.98396700C>T | CA427820071 | CNGA3 | c.1530C>T (p.Cys510=) c.1542C>T (p.Cys514=) c.1476C>T (p.Cys492=) c.1641C>T (p.Cys547=) c.1695C>T (p.Cys565=) | dbSNP |
2 | g.98396701A= | CA1273420024 | CNGA3 | c.1531A= (p.Lys511=) c.1543A= (p.Lys515=) c.1477A= (p.Lys493=) c.1642A= (p.Lys548=) c.1696A= (p.Lys566=) | |
2 | g.98396701A>C | CA347833744 | CNGA3 | c.1531A>C (p.Lys511Gln) c.1543A>C (p.Lys515Gln) c.1477A>C (p.Lys493Gln) c.1642A>C (p.Lys548Gln) c.1696A>C (p.Lys566Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396701A>G | CA347833746 | CNGA3 | c.1531A>G (p.Lys511Glu) c.1543A>G (p.Lys515Glu) c.1477A>G (p.Lys493Glu) c.1642A>G (p.Lys548Glu) c.1696A>G (p.Lys566Glu) | |
2 | g.98396701A>T | CA347833745 | CNGA3 | c.1531A>T (p.Lys511Ter) c.1543A>T (p.Lys515Ter) c.1477A>T (p.Lys493Ter) c.1642A>T (p.Lys548Ter) c.1696A>T (p.Lys566Ter) | |
2 | g.98396704_98396706del | CA2697550995 | CNGA3 | c.1534_1536del (p.Lys512del) c.1546_1548del (p.Lys516del) c.1480_1482del (p.Lys494del) c.1645_1647del (p.Lys549del) c.1699_1701del (p.Lys567del) | ClinVar |
2 | g.98396702A>C | CA347833747 | CNGA3 | c.1532A>C (p.Lys511Thr) c.1544A>C (p.Lys515Thr) c.1478A>C (p.Lys493Thr) c.1643A>C (p.Lys548Thr) c.1697A>C (p.Lys566Thr) | |
2 | g.98396702A>G | CA347833748 | CNGA3 | c.1532A>G (p.Lys511Arg) c.1544A>G (p.Lys515Arg) c.1478A>G (p.Lys493Arg) c.1643A>G (p.Lys548Arg) c.1697A>G (p.Lys566Arg) | |
2 | g.98396702A>T | CA347833749 | CNGA3 | c.1532A>T (p.Lys511Met) c.1544A>T (p.Lys515Met) c.1478A>T (p.Lys493Met) c.1643A>T (p.Lys548Met) c.1697A>T (p.Lys566Met) | |
2 | g.98396703G>A | CA427820077 | CNGA3 | c.1533G>A (p.Lys511=) c.1545G>A (p.Lys515=) c.1479G>A (p.Lys493=) c.1644G>A (p.Lys548=) c.1698G>A (p.Lys566=) | |
2 | g.98396703G>C | CA347833750 | CNGA3 | c.1533G>C (p.Lys511Asn) c.1545G>C (p.Lys515Asn) c.1479G>C (p.Lys493Asn) c.1644G>C (p.Lys548Asn) c.1698G>C (p.Lys566Asn) | |
2 | g.98396703G>T | CA347833751 | CNGA3 | c.1533G>T (p.Lys511Asn) c.1545G>T (p.Lys515Asn) c.1479G>T (p.Lys493Asn) c.1644G>T (p.Lys548Asn) c.1698G>T (p.Lys566Asn) | gnomAD v4 |
2 | g.98396704A>C | CA347833752 | CNGA3 | c.1534A>C (p.Lys512Gln) c.1546A>C (p.Lys516Gln) c.1480A>C (p.Lys494Gln) c.1645A>C (p.Lys549Gln) c.1699A>C (p.Lys567Gln) | |
2 | g.98396704A>G | CA347833753 | CNGA3 | c.1534A>G (p.Lys512Glu) c.1546A>G (p.Lys516Glu) c.1480A>G (p.Lys494Glu) c.1645A>G (p.Lys549Glu) c.1699A>G (p.Lys567Glu) | |
2 | g.98396704A>T | CA347833754 | CNGA3 | c.1534A>T (p.Lys512Ter) c.1546A>T (p.Lys516Ter) c.1480A>T (p.Lys494Ter) c.1645A>T (p.Lys549Ter) c.1699A>T (p.Lys567Ter) | |
2 | g.98396705A>C | CA347833755 | CNGA3 | c.1535A>C (p.Lys512Thr) c.1547A>C (p.Lys516Thr) c.1481A>C (p.Lys494Thr) c.1646A>C (p.Lys549Thr) c.1700A>C (p.Lys567Thr) | |
2 | g.98396705A>G | CA347833756 | CNGA3 | c.1535A>G (p.Lys512Arg) c.1547A>G (p.Lys516Arg) c.1481A>G (p.Lys494Arg) c.1646A>G (p.Lys549Arg) c.1700A>G (p.Lys567Arg) | gnomAD v4 |
2 | g.98396705A>T | CA347833757 | CNGA3 | c.1535A>T (p.Lys512Met) c.1547A>T (p.Lys516Met) c.1481A>T (p.Lys494Met) c.1646A>T (p.Lys549Met) c.1700A>T (p.Lys567Met) | |
2 | g.98396705_98396706delinsAG | CA1273420025 | CNGA3 | c.1535_1536delinsAG (p.Lys512=) c.1547_1548delinsAG (p.Lys516=) c.1481_1482delinsAG (p.Lys494=) c.1646_1647delinsAG (p.Lys549=) c.1700_1701delinsAG (p.Lys567=) | |
2 | g.98396706G>A | CA427820081 | CNGA3 | c.1536G>A (p.Lys512=) c.1548G>A (p.Lys516=) c.1482G>A (p.Lys494=) c.1647G>A (p.Lys549=) c.1701G>A (p.Lys567=) | |
2 | g.98396706G>C | CA347833758 | CNGA3 | c.1536G>C (p.Lys512Asn) c.1548G>C (p.Lys516Asn) c.1482G>C (p.Lys494Asn) c.1647G>C (p.Lys549Asn) c.1701G>C (p.Lys567Asn) | |
2 | g.98396706G>T | CA347833759 | CNGA3 | c.1536G>T (p.Lys512Asn) c.1548G>T (p.Lys516Asn) c.1482G>T (p.Lys494Asn) c.1647G>T (p.Lys549Asn) c.1701G>T (p.Lys567Asn) | |
2 | g.98396708del | CA1273420026 | CNGA3 | c.1538del (p.Gly513GlufsTer?) c.1550del (p.Gly517GlufsTer?) c.1484del (p.Gly495GlufsTer?) c.1649del (p.Gly550GlufsTer?) c.1703del (p.Gly568GlufsTer?) | dbSNP |
2 | g.98396707G>A | CA1794028 | CNGA3 | c.1537G>A (p.Gly513Arg) c.1549G>A (p.Gly517Arg) c.1483G>A (p.Gly495Arg) c.1648G>A (p.Gly550Arg) c.1702G>A (p.Gly568Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396707G>C | CA347833761 | CNGA3 | c.1537G>C (p.Gly513Arg) c.1549G>C (p.Gly517Arg) c.1483G>C (p.Gly495Arg) c.1648G>C (p.Gly550Arg) c.1702G>C (p.Gly568Arg) | |
2 | g.98396707G= | CA1273420027 | CNGA3 | c.1537G= (p.Gly513=) c.1549G= (p.Gly517=) c.1483G= (p.Gly495=) c.1648G= (p.Gly550=) c.1702G= (p.Gly568=) | |
2 | g.98396707G>T | CA347833760 | CNGA3 | c.1537G>T (p.Gly513Ter) c.1549G>T (p.Gly517Ter) c.1483G>T (p.Gly495Ter) c.1648G>T (p.Gly550Ter) c.1702G>T (p.Gly568Ter) | |
2 | g.98396708G>A | CA347833762 | CNGA3 | c.1538G>A (p.Gly513Glu) c.1550G>A (p.Gly517Glu) c.1484G>A (p.Gly495Glu) c.1649G>A (p.Gly550Glu) c.1703G>A (p.Gly568Glu) | COSMIC |
2 | g.98396708G>C | CA1794029 | CNGA3 | c.1538G>C (p.Gly513Ala) c.1550G>C (p.Gly517Ala) c.1484G>C (p.Gly495Ala) c.1649G>C (p.Gly550Ala) c.1703G>C (p.Gly568Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98396708G= | CA1273420028 | CNGA3 | c.1538G= (p.Gly513=) c.1550G= (p.Gly517=) c.1484G= (p.Gly495=) c.1649G= (p.Gly550=) c.1703G= (p.Gly568=) | |
2 | g.98396708G>T | CA347833763 | CNGA3 | c.1538G>T (p.Gly513Val) c.1550G>T (p.Gly517Val) c.1484G>T (p.Gly495Val) c.1649G>T (p.Gly550Val) c.1703G>T (p.Gly568Val) | |
2 | g.98396709A= | CA1273420029 | CNGA3 | c.1539A= (p.Gly513=) c.1551A= (p.Gly517=) c.1485A= (p.Gly495=) c.1650A= (p.Gly550=) c.1704A= (p.Gly568=) | |
2 | g.98396709A>C | CA1794030 | CNGA3 | c.1539A>C (p.Gly513=) c.1551A>C (p.Gly517=) c.1485A>C (p.Gly495=) c.1650A>C (p.Gly550=) c.1704A>C (p.Gly568=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98396709A>G | CA427820087 | CNGA3 | c.1539A>G (p.Gly513=) c.1551A>G (p.Gly517=) c.1485A>G (p.Gly495=) c.1650A>G (p.Gly550=) c.1704A>G (p.Gly568=) | |
2 | g.98396709A>T | CA427820088 | CNGA3 | c.1539A>T (p.Gly513=) c.1551A>T (p.Gly517=) c.1485A>T (p.Gly495=) c.1650A>T (p.Gly550=) c.1704A>T (p.Gly568=) | |
2 | g.98396710G>A | CA347833766 | CNGA3 | c.1540G>A (p.Asp514Asn) c.1552G>A (p.Asp518Asn) c.1486G>A (p.Asp496Asn) c.1651G>A (p.Asp551Asn) c.1705G>A (p.Asp569Asn) | dbSNP |
2 | g.98396710G>C | CA347833764 | CNGA3 | c.1540G>C (p.Asp514His) c.1552G>C (p.Asp518His) c.1486G>C (p.Asp496His) c.1651G>C (p.Asp551His) c.1705G>C (p.Asp569His) | |
2 | g.98396710G= | CA1273420030 | CNGA3 | c.1540G= (p.Asp514=) c.1552G= (p.Asp518=) c.1486G= (p.Asp496=) c.1651G= (p.Asp551=) c.1705G= (p.Asp569=) | |
2 | g.98396710G>T | CA347833765 | CNGA3 | c.1540G>T (p.Asp514Tyr) c.1552G>T (p.Asp518Tyr) c.1486G>T (p.Asp496Tyr) c.1651G>T (p.Asp551Tyr) c.1705G>T (p.Asp569Tyr) | |
2 | g.98396711A= | CA1273420031 | CNGA3 | c.1541A= (p.Asp514=) c.1553A= (p.Asp518=) c.1487A= (p.Asp496=) c.1652A= (p.Asp551=) c.1706A= (p.Asp569=) | |
2 | g.98396711A>C | CA347833767 | CNGA3 | c.1541A>C (p.Asp514Ala) c.1553A>C (p.Asp518Ala) c.1487A>C (p.Asp496Ala) c.1652A>C (p.Asp551Ala) c.1706A>C (p.Asp569Ala) | |
2 | g.98396711A>G | CA347833768 | CNGA3 | c.1541A>G (p.Asp514Gly) c.1553A>G (p.Asp518Gly) c.1487A>G (p.Asp496Gly) c.1652A>G (p.Asp551Gly) c.1706A>G (p.Asp569Gly) | |
2 | g.98396711A>T | CA1794031 | CNGA3 | c.1541A>T (p.Asp514Val) c.1553A>T (p.Asp518Val) c.1487A>T (p.Asp496Val) c.1652A>T (p.Asp551Val) c.1706A>T (p.Asp569Val) | ClinVar dbSNP ExAC |
2 | g.98396712T>A | CA347833769 | CNGA3 | c.1542T>A (p.Asp514Glu) c.1554T>A (p.Asp518Glu) c.1488T>A (p.Asp496Glu) c.1653T>A (p.Asp551Glu) c.1707T>A (p.Asp569Glu) | |
2 | g.98396712T>C | CA427820096 | CNGA3 | c.1542T>C (p.Asp514=) c.1554T>C (p.Asp518=) c.1488T>C (p.Asp496=) c.1653T>C (p.Asp551=) c.1707T>C (p.Asp569=) | |
2 | g.98396712T>G | CA347833770 | CNGA3 | c.1542T>G (p.Asp514Glu) c.1554T>G (p.Asp518Glu) c.1488T>G (p.Asp496Glu) c.1653T>G (p.Asp551Glu) c.1707T>G (p.Asp569Glu) | |
2 | g.98396713A= | CA1273420032 | CNGA3 | c.1543A= (p.Ile515=) c.1555A= (p.Ile519=) c.1489A= (p.Ile497=) c.1654A= (p.Ile552=) c.1708A= (p.Ile570=) | |
2 | g.98396713A>C | CA347833771 | CNGA3 | c.1543A>C (p.Ile515Leu) c.1555A>C (p.Ile519Leu) c.1489A>C (p.Ile497Leu) c.1654A>C (p.Ile552Leu) c.1708A>C (p.Ile570Leu) | |
2 | g.98396713A>G | CA1794032 | CNGA3 | c.1543A>G (p.Ile515Val) c.1555A>G (p.Ile519Val) c.1489A>G (p.Ile497Val) c.1654A>G (p.Ile552Val) c.1708A>G (p.Ile570Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98396713A>T | CA347833772 | CNGA3 | c.1543A>T (p.Ile515Phe) c.1555A>T (p.Ile519Phe) c.1489A>T (p.Ile497Phe) c.1654A>T (p.Ile552Phe) c.1708A>T (p.Ile570Phe) | |
2 | g.98396714T>A | CA347833773 | CNGA3 | c.1544T>A (p.Ile515Asn) c.1556T>A (p.Ile519Asn) c.1490T>A (p.Ile497Asn) c.1655T>A (p.Ile552Asn) c.1709T>A (p.Ile570Asn) | |
2 | g.98396714T>C | CA347833774 | CNGA3 | c.1544T>C (p.Ile515Thr) c.1556T>C (p.Ile519Thr) c.1490T>C (p.Ile497Thr) c.1655T>C (p.Ile552Thr) c.1709T>C (p.Ile570Thr) | gnomAD v4 |
2 | g.98396714T>G | CA347833775 | CNGA3 | c.1544T>G (p.Ile515Ser) c.1556T>G (p.Ile519Ser) c.1490T>G (p.Ile497Ser) c.1655T>G (p.Ile552Ser) c.1709T>G (p.Ile570Ser) | dbSNP |
2 | g.98396714T= | CA1273420033 | CNGA3 | c.1544T= (p.Ile515=) c.1556T= (p.Ile519=) c.1490T= (p.Ile497=) c.1655T= (p.Ile552=) c.1709T= (p.Ile570=) | |
2 | g.98396715T>A | CA427820101 | CNGA3 | c.1545T>A (p.Ile515=) c.1557T>A (p.Ile519=) c.1491T>A (p.Ile497=) c.1656T>A (p.Ile552=) c.1710T>A (p.Ile570=) | |
2 | g.98396715T>C | CA427820102 | CNGA3 | c.1545T>C (p.Ile515=) c.1557T>C (p.Ile519=) c.1491T>C (p.Ile497=) c.1656T>C (p.Ile552=) c.1710T>C (p.Ile570=) | |
2 | g.98396715T>G | CA347833776 | CNGA3 | c.1545T>G (p.Ile515Met) c.1557T>G (p.Ile519Met) c.1491T>G (p.Ile497Met) c.1656T>G (p.Ile552Met) c.1710T>G (p.Ile570Met) | |
2 | g.98396716G>A | CA347833778 | CNGA3 | c.1546G>A (p.Gly516Arg) c.1558G>A (p.Gly520Arg) c.1492G>A (p.Gly498Arg) c.1657G>A (p.Gly553Arg) c.1711G>A (p.Gly571Arg) | |
2 | g.98396716G>C | CA347833777 | CNGA3 | c.1546G>C (p.Gly516Arg) c.1558G>C (p.Gly520Arg) c.1492G>C (p.Gly498Arg) c.1657G>C (p.Gly553Arg) c.1711G>C (p.Gly571Arg) | |
2 | g.98396716G= | CA1273420034 | CNGA3 | c.1546G= (p.Gly516=) c.1558G= (p.Gly520=) c.1492G= (p.Gly498=) c.1657G= (p.Gly553=) c.1711G= (p.Gly571=) | |
2 | g.98396716G>T | CA1794033 | CNGA3 | c.1546G>T (p.Gly516Trp) c.1558G>T (p.Gly520Trp) c.1492G>T (p.Gly498Trp) c.1657G>T (p.Gly553Trp) c.1711G>T (p.Gly571Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98396717G>A | CA347833779 | CNGA3 | c.1547G>A (p.Gly516Glu) c.1559G>A (p.Gly520Glu) c.1493G>A (p.Gly498Glu) c.1658G>A (p.Gly553Glu) c.1712G>A (p.Gly571Glu) | gnomAD v4 |
2 | g.98396717G>C | CA52635830 | CNGA3 | c.1547G>C (p.Gly516Ala) c.1559G>C (p.Gly520Ala) c.1493G>C (p.Gly498Ala) c.1658G>C (p.Gly553Ala) c.1712G>C (p.Gly571Ala) | dbSNP gnomAD v4 |
2 | g.98396717G= | CA1273420035 | CNGA3 | c.1547G= (p.Gly516=) c.1559G= (p.Gly520=) c.1493G= (p.Gly498=) c.1658G= (p.Gly553=) c.1712G= (p.Gly571=) | |
2 | g.98396717G>T | CA347833780 | CNGA3 | c.1547G>T (p.Gly516Val) c.1559G>T (p.Gly520Val) c.1493G>T (p.Gly498Val) c.1658G>T (p.Gly553Val) c.1712G>T (p.Gly571Val) | |
2 | g.98396718G>A | CA427820105 | CNGA3 | c.1548G>A (p.Gly516=) c.1560G>A (p.Gly520=) c.1494G>A (p.Gly498=) c.1659G>A (p.Gly553=) c.1713G>A (p.Gly571=) | |
2 | g.98396718G>C | CA427820106 | CNGA3 | c.1548G>C (p.Gly516=) c.1560G>C (p.Gly520=) c.1494G>C (p.Gly498=) c.1659G>C (p.Gly553=) c.1713G>C (p.Gly571=) | |
2 | g.98396718G>T | CA427820107 | CNGA3 | c.1548G>T (p.Gly516=) c.1560G>T (p.Gly520=) c.1494G>T (p.Gly498=) c.1659G>T (p.Gly553=) c.1713G>T (p.Gly571=) | |
2 | g.98396719A>C | CA347833781 | CNGA3 | c.1549A>C (p.Lys517Gln) c.1561A>C (p.Lys521Gln) c.1495A>C (p.Lys499Gln) c.1660A>C (p.Lys554Gln) c.1714A>C (p.Lys572Gln) | |
2 | g.98396719A>G | CA347833782 | CNGA3 | c.1549A>G (p.Lys517Glu) c.1561A>G (p.Lys521Glu) c.1495A>G (p.Lys499Glu) c.1660A>G (p.Lys554Glu) c.1714A>G (p.Lys572Glu) | |
2 | g.98396719A>T | CA347833783 | CNGA3 | c.1549A>T (p.Lys517Ter) c.1561A>T (p.Lys521Ter) c.1495A>T (p.Lys499Ter) c.1660A>T (p.Lys554Ter) c.1714A>T (p.Lys572Ter) | |
2 | g.98396720A= | CA1273420036 | CNGA3 | c.1550A= (p.Lys517=) c.1562A= (p.Lys521=) c.1496A= (p.Lys499=) c.1661A= (p.Lys554=) c.1715A= (p.Lys572=) | |
2 | g.98396720A>C | CA347833784 | CNGA3 | c.1550A>C (p.Lys517Thr) c.1562A>C (p.Lys521Thr) c.1496A>C (p.Lys499Thr) c.1661A>C (p.Lys554Thr) c.1715A>C (p.Lys572Thr) | |
2 | g.98396720A>G | CA347833785 | CNGA3 | c.1550A>G (p.Lys517Arg) c.1562A>G (p.Lys521Arg) c.1496A>G (p.Lys499Arg) c.1661A>G (p.Lys554Arg) c.1715A>G (p.Lys572Arg) | dbSNP |
2 | g.98396720A>T | CA347833786 | CNGA3 | c.1550A>T (p.Lys517Met) c.1562A>T (p.Lys521Met) c.1496A>T (p.Lys499Met) c.1661A>T (p.Lys554Met) c.1715A>T (p.Lys572Met) | |
2 | g.98396721G>A | CA1794034 | CNGA3 | c.1551G>A (p.Lys517=) c.1563G>A (p.Lys521=) c.1497G>A (p.Lys499=) c.1662G>A (p.Lys554=) c.1716G>A (p.Lys572=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396721G>C | CA347833787 | CNGA3 | c.1551G>C (p.Lys517Asn) c.1563G>C (p.Lys521Asn) c.1497G>C (p.Lys499Asn) c.1662G>C (p.Lys554Asn) c.1716G>C (p.Lys572Asn) | |
2 | g.98396721G= | CA1273420037 | CNGA3 | c.1551G= (p.Lys517=) c.1563G= (p.Lys521=) c.1497G= (p.Lys499=) c.1662G= (p.Lys554=) c.1716G= (p.Lys572=) | |
2 | g.98396721G>T | CA347833788 | CNGA3 | c.1551G>T (p.Lys517Asn) c.1563G>T (p.Lys521Asn) c.1497G>T (p.Lys499Asn) c.1662G>T (p.Lys554Asn) c.1716G>T (p.Lys572Asn) | |
2 | g.98396722G>A | CA347833789 | CNGA3 | c.1552G>A (p.Glu518Lys) c.1564G>A (p.Glu522Lys) c.1498G>A (p.Glu500Lys) c.1663G>A (p.Glu555Lys) c.1717G>A (p.Glu573Lys) | COSMIC |
2 | g.98396722G>C | CA347833791 | CNGA3 | c.1552G>C (p.Glu518Gln) c.1564G>C (p.Glu522Gln) c.1498G>C (p.Glu500Gln) c.1663G>C (p.Glu555Gln) c.1717G>C (p.Glu573Gln) | |
2 | g.98396722G>T | CA347833790 | CNGA3 | c.1552G>T (p.Glu518Ter) c.1564G>T (p.Glu522Ter) c.1498G>T (p.Glu500Ter) c.1663G>T (p.Glu555Ter) c.1717G>T (p.Glu573Ter) | |
2 | g.98396723A>C | CA347833792 | CNGA3 | c.1553A>C (p.Glu518Ala) c.1565A>C (p.Glu522Ala) c.1499A>C (p.Glu500Ala) c.1664A>C (p.Glu555Ala) c.1718A>C (p.Glu573Ala) | |
2 | g.98396723A>G | CA347833793 | CNGA3 | c.1553A>G (p.Glu518Gly) c.1565A>G (p.Glu522Gly) c.1499A>G (p.Glu500Gly) c.1664A>G (p.Glu555Gly) c.1718A>G (p.Glu573Gly) | |
2 | g.98396723A>T | CA347833794 | CNGA3 | c.1553A>T (p.Glu518Val) c.1565A>T (p.Glu522Val) c.1499A>T (p.Glu500Val) c.1664A>T (p.Glu555Val) c.1718A>T (p.Glu573Val) | |
2 | g.98396724G>A | CA1794035 | CNGA3 | c.1554G>A (p.Glu518=) c.1566G>A (p.Glu522=) c.1500G>A (p.Glu500=) c.1665G>A (p.Glu555=) c.1719G>A (p.Glu573=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.98396724G>C | CA347833795 | CNGA3 | c.1554G>C (p.Glu518Asp) c.1566G>C (p.Glu522Asp) c.1500G>C (p.Glu500Asp) c.1665G>C (p.Glu555Asp) c.1719G>C (p.Glu573Asp) | |
2 | g.98396724G= | CA1273420038 | CNGA3 | c.1554G= (p.Glu518=) c.1566G= (p.Glu522=) c.1500G= (p.Glu500=) c.1665G= (p.Glu555=) c.1719G= (p.Glu573=) | |
2 | g.98396724G>T | CA347833796 | CNGA3 | c.1554G>T (p.Glu518Asp) c.1566G>T (p.Glu522Asp) c.1500G>T (p.Glu500Asp) c.1665G>T (p.Glu555Asp) c.1719G>T (p.Glu573Asp) | |
2 | g.98396725A>C | CA347833797 | CNGA3 | c.1555A>C (p.Met519Leu) c.1567A>C (p.Met523Leu) c.1501A>C (p.Met501Leu) c.1666A>C (p.Met556Leu) c.1720A>C (p.Met574Leu) | |
2 | g.98396725A>G | CA347833798 | CNGA3 | c.1555A>G (p.Met519Val) c.1567A>G (p.Met523Val) c.1501A>G (p.Met501Val) c.1666A>G (p.Met556Val) c.1720A>G (p.Met574Val) | |
2 | g.98396725A>T | CA347833799 | CNGA3 | c.1555A>T (p.Met519Leu) c.1567A>T (p.Met523Leu) c.1501A>T (p.Met501Leu) c.1666A>T (p.Met556Leu) c.1720A>T (p.Met574Leu) | gnomAD v4 |
2 | g.98396726T>A | CA347833800 | CNGA3 | c.1556T>A (p.Met519Lys) c.1568T>A (p.Met523Lys) c.1502T>A (p.Met501Lys) c.1667T>A (p.Met556Lys) c.1721T>A (p.Met574Lys) | |
2 | g.98396726T>C | CA347833801 | CNGA3 | c.1556T>C (p.Met519Thr) c.1568T>C (p.Met523Thr) c.1502T>C (p.Met501Thr) c.1667T>C (p.Met556Thr) c.1721T>C (p.Met574Thr) | gnomAD v4 |
2 | g.98396726T>G | CA347833802 | CNGA3 | c.1556T>G (p.Met519Arg) c.1568T>G (p.Met523Arg) c.1502T>G (p.Met501Arg) c.1667T>G (p.Met556Arg) c.1721T>G (p.Met574Arg) | |
2 | g.98396727G>A | CA1794036 | CNGA3 | c.1557G>A (p.Met519Ile) c.1569G>A (p.Met523Ile) c.1503G>A (p.Met501Ile) c.1668G>A (p.Met556Ile) c.1722G>A (p.Met574Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396727G>C | CA347833803 | CNGA3 | c.1557G>C (p.Met519Ile) c.1569G>C (p.Met523Ile) c.1503G>C (p.Met501Ile) c.1668G>C (p.Met556Ile) c.1722G>C (p.Met574Ile) | |
2 | g.98396727G= | CA1273420039 | CNGA3 | c.1557G= (p.Met519=) c.1569G= (p.Met523=) c.1503G= (p.Met501=) c.1668G= (p.Met556=) c.1722G= (p.Met574=) | |
2 | g.98396727G>T | CA347833804 | CNGA3 | c.1557G>T (p.Met519Ile) c.1569G>T (p.Met523Ile) c.1503G>T (p.Met501Ile) c.1668G>T (p.Met556Ile) c.1722G>T (p.Met574Ile) | |
2 | g.98396728T>A | CA347833805 | CNGA3 | c.1558T>A (p.Tyr520Asn) c.1570T>A (p.Tyr524Asn) c.1504T>A (p.Tyr502Asn) c.1669T>A (p.Tyr557Asn) c.1723T>A (p.Tyr575Asn) | |
2 | g.98396728T>C | CA347833806 | CNGA3 | c.1558T>C (p.Tyr520His) c.1570T>C (p.Tyr524His) c.1504T>C (p.Tyr502His) c.1669T>C (p.Tyr557His) c.1723T>C (p.Tyr575His) | gnomAD v4 |
2 | g.98396728T>G | CA347833807 | CNGA3 | c.1558T>G (p.Tyr520Asp) c.1570T>G (p.Tyr524Asp) c.1504T>G (p.Tyr502Asp) c.1669T>G (p.Tyr557Asp) c.1723T>G (p.Tyr575Asp) | |
2 | g.98396729A>C | CA347833808 | CNGA3 | c.1559A>C (p.Tyr520Ser) c.1571A>C (p.Tyr524Ser) c.1505A>C (p.Tyr502Ser) c.1670A>C (p.Tyr557Ser) c.1724A>C (p.Tyr575Ser) | |
2 | g.98396729A>G | CA347833809 | CNGA3 | c.1559A>G (p.Tyr520Cys) c.1571A>G (p.Tyr524Cys) c.1505A>G (p.Tyr502Cys) c.1670A>G (p.Tyr557Cys) c.1724A>G (p.Tyr575Cys) | |
2 | g.98396729A>T | CA347833810 | CNGA3 | c.1559A>T (p.Tyr520Phe) c.1571A>T (p.Tyr524Phe) c.1505A>T (p.Tyr502Phe) c.1670A>T (p.Tyr557Phe) c.1724A>T (p.Tyr575Phe) | |
2 | g.98396730C>A | CA347833811 | CNGA3 | c.1560C>A (p.Tyr520Ter) c.1572C>A (p.Tyr524Ter) c.1506C>A (p.Tyr502Ter) c.1671C>A (p.Tyr557Ter) c.1725C>A (p.Tyr575Ter) | gnomAD v4 |
2 | g.98396730C>G | CA347833812 | CNGA3 | c.1560C>G (p.Tyr520Ter) c.1572C>G (p.Tyr524Ter) c.1506C>G (p.Tyr502Ter) c.1671C>G (p.Tyr557Ter) c.1725C>G (p.Tyr575Ter) | |
2 | g.98396730C>T | CA427820134 | CNGA3 | c.1560C>T (p.Tyr520=) c.1572C>T (p.Tyr524=) c.1506C>T (p.Tyr502=) c.1671C>T (p.Tyr557=) c.1725C>T (p.Tyr575=) | gnomAD v4 |
2 | g.98396731A>C | CA347833813 | CNGA3 | c.1561A>C (p.Ile521Leu) c.1573A>C (p.Ile525Leu) c.1507A>C (p.Ile503Leu) c.1672A>C (p.Ile558Leu) c.1726A>C (p.Ile576Leu) | |
2 | g.98396731A>G | CA347833814 | CNGA3 | c.1561A>G (p.Ile521Val) c.1573A>G (p.Ile525Val) c.1507A>G (p.Ile503Val) c.1672A>G (p.Ile558Val) c.1726A>G (p.Ile576Val) | ClinVar |
2 | g.98396731A>T | CA347833815 | CNGA3 | c.1561A>T (p.Ile521Phe) c.1573A>T (p.Ile525Phe) c.1507A>T (p.Ile503Phe) c.1672A>T (p.Ile558Phe) c.1726A>T (p.Ile576Phe) | |
2 | g.98396732T>A | CA347833818 | CNGA3 | c.1562T>A (p.Ile521Asn) c.1574T>A (p.Ile525Asn) c.1508T>A (p.Ile503Asn) c.1673T>A (p.Ile558Asn) c.1727T>A (p.Ile576Asn) | |
2 | g.98396732T>C | CA347833817 | CNGA3 | c.1562T>C (p.Ile521Thr) c.1574T>C (p.Ile525Thr) c.1508T>C (p.Ile503Thr) c.1673T>C (p.Ile558Thr) c.1727T>C (p.Ile576Thr) | gnomAD v4 |
2 | g.98396732T>G | CA347833816 | CNGA3 | c.1562T>G (p.Ile521Ser) c.1574T>G (p.Ile525Ser) c.1508T>G (p.Ile503Ser) c.1673T>G (p.Ile558Ser) c.1727T>G (p.Ile576Ser) | |
2 | g.98396733C>A | CA427820141 | CNGA3 | c.1563C>A (p.Ile521=) c.1575C>A (p.Ile525=) c.1509C>A (p.Ile503=) c.1674C>A (p.Ile558=) c.1728C>A (p.Ile576=) | |
2 | g.98396733C>G | CA347833819 | CNGA3 | c.1563C>G (p.Ile521Met) c.1575C>G (p.Ile525Met) c.1509C>G (p.Ile503Met) c.1674C>G (p.Ile558Met) c.1728C>G (p.Ile576Met) | |
2 | g.98396733C>T | CA427820142 | CNGA3 | c.1563C>T (p.Ile521=) c.1575C>T (p.Ile525=) c.1509C>T (p.Ile503=) c.1674C>T (p.Ile558=) c.1728C>T (p.Ile576=) | |
2 | g.98396734A= | CA1273420040 | CNGA3 | c.1564A= (p.Ile522=) c.1576A= (p.Ile526=) c.1510A= (p.Ile504=) c.1675A= (p.Ile559=) c.1729A= (p.Ile577=) | |
2 | g.98396734A>C | CA52635844 | CNGA3 | c.1564A>C (p.Ile522Leu) c.1576A>C (p.Ile526Leu) c.1510A>C (p.Ile504Leu) c.1675A>C (p.Ile559Leu) c.1729A>C (p.Ile577Leu) | dbSNP |
2 | g.98396734A>G | CA347833820 | CNGA3 | c.1564A>G (p.Ile522Val) c.1576A>G (p.Ile526Val) c.1510A>G (p.Ile504Val) c.1675A>G (p.Ile559Val) c.1729A>G (p.Ile577Val) | |
2 | g.98396734A>T | CA347833821 | CNGA3 | c.1564A>T (p.Ile522Phe) c.1576A>T (p.Ile526Phe) c.1510A>T (p.Ile504Phe) c.1675A>T (p.Ile559Phe) c.1729A>T (p.Ile577Phe) | |
2 | g.98396735T>A | CA347833822 | CNGA3 | c.1565T>A (p.Ile522Asn) c.1577T>A (p.Ile526Asn) c.1511T>A (p.Ile504Asn) c.1676T>A (p.Ile559Asn) c.1730T>A (p.Ile577Asn) | |
2 | g.98396735T>C | CA347833823 | CNGA3 | c.1565T>C (p.Ile522Thr) c.1577T>C (p.Ile526Thr) c.1511T>C (p.Ile504Thr) c.1676T>C (p.Ile559Thr) c.1730T>C (p.Ile577Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.98396735T>G | CA347833824 | CNGA3 | c.1565T>G (p.Ile522Ser) c.1577T>G (p.Ile526Ser) c.1511T>G (p.Ile504Ser) c.1676T>G (p.Ile559Ser) c.1730T>G (p.Ile577Ser) | |
2 | g.98396736C>A | CA427820147 | CNGA3 | c.1566C>A (p.Ile522=) c.1578C>A (p.Ile526=) c.1512C>A (p.Ile504=) c.1677C>A (p.Ile559=) c.1731C>A (p.Ile577=) | |
2 | g.98396736C= | CA1273420041 | CNGA3 | c.1566C= (p.Ile522=) c.1578C= (p.Ile526=) c.1512C= (p.Ile504=) c.1677C= (p.Ile559=) c.1731C= (p.Ile577=) | |
2 | g.98396736C>G | CA347833825 | CNGA3 | c.1566C>G (p.Ile522Met) c.1578C>G (p.Ile526Met) c.1512C>G (p.Ile504Met) c.1677C>G (p.Ile559Met) c.1731C>G (p.Ile577Met) | |
2 | g.98396736C>T | CA1794037 | CNGA3 | c.1566C>T (p.Ile522=) c.1578C>T (p.Ile526=) c.1512C>T (p.Ile504=) c.1677C>T (p.Ile559=) c.1731C>T (p.Ile577=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.98396739_98396747del | CA2586969730 | CNGA3 | c.1569_1577del (p.Asn523_Gly525del) c.1581_1589del (p.Asn527_Gly529del) c.1515_1523del (p.Asn505_Gly507del) c.1680_1688del (p.Asn560_Gly562del) c.1734_1742del (p.Asn578_Gly580del) | |
2 | g.98396737A= | CA1273420042 | CNGA3 | c.1567A= (p.Asn523=) c.1579A= (p.Asn527=) c.1513A= (p.Asn505=) c.1678A= (p.Asn560=) c.1732A= (p.Asn578=) | |
2 | g.98396737A>C | CA347833826 | CNGA3 | c.1567A>C (p.Asn523His) c.1579A>C (p.Asn527His) c.1513A>C (p.Asn505His) c.1678A>C (p.Asn560His) c.1732A>C (p.Asn578His) | |
2 | g.98396737A>G | CA347833827 | CNGA3 | c.1567A>G (p.Asn523Asp) c.1579A>G (p.Asn527Asp) c.1513A>G (p.Asn505Asp) c.1678A>G (p.Asn560Asp) c.1732A>G (p.Asn578Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.98396737A>T | CA347833828 | CNGA3 | c.1567A>T (p.Asn523Tyr) c.1579A>T (p.Asn527Tyr) c.1513A>T (p.Asn505Tyr) c.1678A>T (p.Asn560Tyr) c.1732A>T (p.Asn578Tyr) | |
2 | g.98396738A>C | CA347833829 | CNGA3 | c.1568A>C (p.Asn523Thr) c.1580A>C (p.Asn527Thr) c.1514A>C (p.Asn505Thr) c.1679A>C (p.Asn560Thr) c.1733A>C (p.Asn578Thr) | |
2 | g.98396738A>G | CA347833830 | CNGA3 | c.1568A>G (p.Asn523Ser) c.1580A>G (p.Asn527Ser) c.1514A>G (p.Asn505Ser) c.1679A>G (p.Asn560Ser) c.1733A>G (p.Asn578Ser) | |
2 | g.98396738A>T | CA347833831 | CNGA3 | c.1568A>T (p.Asn523Ile) c.1580A>T (p.Asn527Ile) c.1514A>T (p.Asn505Ile) c.1679A>T (p.Asn560Ile) c.1733A>T (p.Asn578Ile) | |
2 | g.98396739C>A | CA347833832 | CNGA3 | c.1569C>A (p.Asn523Lys) c.1581C>A (p.Asn527Lys) c.1515C>A (p.Asn505Lys) c.1680C>A (p.Asn560Lys) c.1734C>A (p.Asn578Lys) | |
2 | g.98396739C= | CA1273420043 | CNGA3 | c.1569C= (p.Asn523=) c.1581C= (p.Asn527=) c.1515C= (p.Asn505=) c.1680C= (p.Asn560=) c.1734C= (p.Asn578=) | |
2 | g.98396739C>G | CA347833833 | CNGA3 | c.1569C>G (p.Asn523Lys) c.1581C>G (p.Asn527Lys) c.1515C>G (p.Asn505Lys) c.1680C>G (p.Asn560Lys) c.1734C>G (p.Asn578Lys) | |
2 | g.98396739C>T | CA1794038 | CNGA3 | c.1569C>T (p.Asn523=) c.1581C>T (p.Asn527=) c.1515C>T (p.Asn505=) c.1680C>T (p.Asn560=) c.1734C>T (p.Asn578=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396740G>A | CA1794039 | CNGA3 | c.1570G>A (p.Glu524Lys) c.1582G>A (p.Glu528Lys) c.1516G>A (p.Glu506Lys) c.1681G>A (p.Glu561Lys) c.1735G>A (p.Glu579Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396740G>C | CA52635852 | CNGA3 | c.1570G>C (p.Glu524Gln) c.1582G>C (p.Glu528Gln) c.1516G>C (p.Glu506Gln) c.1681G>C (p.Glu561Gln) c.1735G>C (p.Glu579Gln) | dbSNP |
2 | g.98396740G= | CA1273420044 | CNGA3 | c.1570G= (p.Glu524=) c.1582G= (p.Glu528=) c.1516G= (p.Glu506=) c.1681G= (p.Glu561=) c.1735G= (p.Glu579=) | |
2 | g.98396740G>T | CA347833834 | CNGA3 | c.1570G>T (p.Glu524Ter) c.1582G>T (p.Glu528Ter) c.1516G>T (p.Glu506Ter) c.1681G>T (p.Glu561Ter) c.1735G>T (p.Glu579Ter) | dbSNP |
2 | g.98396741A>C | CA347833835 | CNGA3 | c.1571A>C (p.Glu524Ala) c.1583A>C (p.Glu528Ala) c.1517A>C (p.Glu506Ala) c.1682A>C (p.Glu561Ala) c.1736A>C (p.Glu579Ala) | |
2 | g.98396741A>G | CA347833836 | CNGA3 | c.1571A>G (p.Glu524Gly) c.1583A>G (p.Glu528Gly) c.1517A>G (p.Glu506Gly) c.1682A>G (p.Glu561Gly) c.1736A>G (p.Glu579Gly) | |
2 | g.98396741A>T | CA347833837 | CNGA3 | c.1571A>T (p.Glu524Val) c.1583A>T (p.Glu528Val) c.1517A>T (p.Glu506Val) c.1682A>T (p.Glu561Val) c.1736A>T (p.Glu579Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.98396742G>A | CA427820156 | CNGA3 | c.1572G>A (p.Glu524=) c.1584G>A (p.Glu528=) c.1518G>A (p.Glu506=) c.1683G>A (p.Glu561=) c.1737G>A (p.Glu579=) | |
2 | g.98396742G>C | CA347833838 | CNGA3 | c.1572G>C (p.Glu524Asp) c.1584G>C (p.Glu528Asp) c.1518G>C (p.Glu506Asp) c.1683G>C (p.Glu561Asp) c.1737G>C (p.Glu579Asp) | gnomAD v4 |
2 | g.98396742G>T | CA347833839 | CNGA3 | c.1572G>T (p.Glu524Asp) c.1584G>T (p.Glu528Asp) c.1518G>T (p.Glu506Asp) c.1683G>T (p.Glu561Asp) c.1737G>T (p.Glu579Asp) | |
2 | g.98396743G>A | CA236065 | CNGA3 | c.1573G>A (p.Gly525Ser) c.1585G>A (p.Gly529Ser) c.1519G>A (p.Gly507Ser) c.1684G>A (p.Gly562Ser) c.1738G>A (p.Gly580Ser) | ClinVar dbSNP |
2 | g.98396743G>C | CA347833840 | CNGA3 | c.1573G>C (p.Gly525Arg) c.1585G>C (p.Gly529Arg) c.1519G>C (p.Gly507Arg) c.1684G>C (p.Gly562Arg) c.1738G>C (p.Gly580Arg) | |
2 | g.98396743G= | CA1273420045 | CNGA3 | c.1573G= (p.Gly525=) c.1585G= (p.Gly529=) c.1519G= (p.Gly507=) c.1684G= (p.Gly562=) c.1738G= (p.Gly580=) | |
2 | g.98396743G>T | CA347833841 | CNGA3 | c.1573G>T (p.Gly525Cys) c.1585G>T (p.Gly529Cys) c.1519G>T (p.Gly507Cys) c.1684G>T (p.Gly562Cys) c.1738G>T (p.Gly580Cys) | |
2 | g.98396744G>A | CA347833842 | CNGA3 | c.1574G>A (p.Gly525Asp) c.1586G>A (p.Gly529Asp) c.1520G>A (p.Gly507Asp) c.1685G>A (p.Gly562Asp) c.1739G>A (p.Gly580Asp) | gnomAD v4 |
2 | g.98396744G>C | CA347833844 | CNGA3 | c.1574G>C (p.Gly525Ala) c.1586G>C (p.Gly529Ala) c.1520G>C (p.Gly507Ala) c.1685G>C (p.Gly562Ala) c.1739G>C (p.Gly580Ala) | |
2 | g.98396744G>T | CA347833843 | CNGA3 | c.1574G>T (p.Gly525Val) c.1586G>T (p.Gly529Val) c.1520G>T (p.Gly507Val) c.1685G>T (p.Gly562Val) c.1739G>T (p.Gly580Val) | |
2 | g.98396745C>A | CA427820163 | CNGA3 | c.1575C>A (p.Gly525=) c.1587C>A (p.Gly529=) c.1521C>A (p.Gly507=) c.1686C>A (p.Gly562=) c.1740C>A (p.Gly580=) | COSMIC |
2 | g.98396745C>G | CA427820166 | CNGA3 | c.1575C>G (p.Gly525=) c.1587C>G (p.Gly529=) c.1521C>G (p.Gly507=) c.1686C>G (p.Gly562=) c.1740C>G (p.Gly580=) | |
2 | g.98396745C>T | CA427820167 | CNGA3 | c.1575C>T (p.Gly525=) c.1587C>T (p.Gly529=) c.1521C>T (p.Gly507=) c.1686C>T (p.Gly562=) c.1740C>T (p.Gly580=) | |
2 | g.98396746A>C | CA347833845 | CNGA3 | c.1576A>C (p.Lys526Gln) c.1588A>C (p.Lys530Gln) c.1522A>C (p.Lys508Gln) c.1687A>C (p.Lys563Gln) c.1741A>C (p.Lys581Gln) | |
2 | g.98396746A>G | CA347833846 | CNGA3 | c.1576A>G (p.Lys526Glu) c.1588A>G (p.Lys530Glu) c.1522A>G (p.Lys508Glu) c.1687A>G (p.Lys563Glu) c.1741A>G (p.Lys581Glu) | |
2 | g.98396746A>T | CA347833847 | CNGA3 | c.1576A>T (p.Lys526Ter) c.1588A>T (p.Lys530Ter) c.1522A>T (p.Lys508Ter) c.1687A>T (p.Lys563Ter) c.1741A>T (p.Lys581Ter) | |
2 | g.98396746_98396747dup | CA645516632 | CNGA3 | c.1576_1577dup (p.Leu527SerfsTer28) c.1588_1589dup (p.Leu531SerfsTer28) c.1522_1523dup (p.Leu509SerfsTer28) c.1687_1688dup (p.Leu564SerfsTer28) c.1741_1742dup (p.Leu582SerfsTer28) | COSMIC |
2 | g.98396747A= | CA1273420046 | CNGA3 | c.1577A= (p.Lys526=) c.1589A= (p.Lys530=) c.1523A= (p.Lys508=) c.1688A= (p.Lys563=) c.1742A= (p.Lys581=) | |
2 | g.98396747A>C | CA347833848 | CNGA3 | c.1577A>C (p.Lys526Thr) c.1589A>C (p.Lys530Thr) c.1523A>C (p.Lys508Thr) c.1688A>C (p.Lys563Thr) c.1742A>C (p.Lys581Thr) | COSMIC |
2 | g.98396747A>G | CA347833849 | CNGA3 | c.1577A>G (p.Lys526Arg) c.1589A>G (p.Lys530Arg) c.1523A>G (p.Lys508Arg) c.1688A>G (p.Lys563Arg) c.1742A>G (p.Lys581Arg) | |
2 | g.98396747A>T | CA1794040 | CNGA3 | c.1577A>T (p.Lys526Met) c.1589A>T (p.Lys530Met) c.1523A>T (p.Lys508Met) c.1688A>T (p.Lys563Met) c.1742A>T (p.Lys581Met) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.98396748G>A | CA427820176 | CNGA3 | c.1578G>A (p.Lys526=) c.1590G>A (p.Lys530=) c.1524G>A (p.Lys508=) c.1689G>A (p.Lys563=) c.1743G>A (p.Lys581=) | gnomAD v4 |
2 | g.98396748G>C | CA1794041 | CNGA3 | c.1578G>C (p.Lys526Asn) c.1590G>C (p.Lys530Asn) c.1524G>C (p.Lys508Asn) c.1689G>C (p.Lys563Asn) c.1743G>C (p.Lys581Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396748G= | CA1273420047 | CNGA3 | c.1578G= (p.Lys526=) c.1590G= (p.Lys530=) c.1524G= (p.Lys508=) c.1689G= (p.Lys563=) c.1743G= (p.Lys581=) | |
2 | g.98396748G>T | CA347833850 | CNGA3 | c.1578G>T (p.Lys526Asn) c.1590G>T (p.Lys530Asn) c.1524G>T (p.Lys508Asn) c.1689G>T (p.Lys563Asn) c.1743G>T (p.Lys581Asn) | COSMIC |
2 | g.98396749C>A | CA347833851 | CNGA3 | c.1579C>A (p.Leu527Met) c.1591C>A (p.Leu531Met) c.1525C>A (p.Leu509Met) c.1690C>A (p.Leu564Met) c.1744C>A (p.Leu582Met) | ClinVar dbSNP gnomAD v4 |
2 | g.98396749C= | CA1273420048 | CNGA3 | c.1579C= (p.Leu527=) c.1591C= (p.Leu531=) c.1525C= (p.Leu509=) c.1690C= (p.Leu564=) c.1744C= (p.Leu582=) | |
2 | g.98396749C>G | CA347833852 | CNGA3 | c.1579C>G (p.Leu527Val) c.1591C>G (p.Leu531Val) c.1525C>G (p.Leu509Val) c.1690C>G (p.Leu564Val) c.1744C>G (p.Leu582Val) | |
2 | g.98396749C>T | CA1794042 | CNGA3 | c.1579C>T (p.Leu527=) c.1591C>T (p.Leu531=) c.1525C>T (p.Leu509=) c.1690C>T (p.Leu564=) c.1744C>T (p.Leu582=) | dbSNP ExAC gnomAD v2 |
2 | g.98396750T>A | CA347833854 | CNGA3 | c.1580T>A (p.Leu527Gln) c.1592T>A (p.Leu531Gln) c.1526T>A (p.Leu509Gln) c.1691T>A (p.Leu564Gln) c.1745T>A (p.Leu582Gln) | |
2 | g.98396750T>C | CA347833853 | CNGA3 | c.1580T>C (p.Leu527Pro) c.1592T>C (p.Leu531Pro) c.1526T>C (p.Leu509Pro) c.1691T>C (p.Leu564Pro) c.1745T>C (p.Leu582Pro) | ClinVar dbSNP COSMIC |
2 | g.98396750T>G | CA1794043 | CNGA3 | c.1580T>G (p.Leu527Arg) c.1592T>G (p.Leu531Arg) c.1526T>G (p.Leu509Arg) c.1691T>G (p.Leu564Arg) c.1745T>G (p.Leu582Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.98396750T= | CA1273420049 | CNGA3 | c.1580T= (p.Leu527=) c.1592T= (p.Leu531=) c.1526T= (p.Leu509=) c.1691T= (p.Leu564=) c.1745T= (p.Leu582=) | |
2 | g.98396751G>A | CA427820183 | CNGA3 | c.1581G>A (p.Leu527=) c.1593G>A (p.Leu531=) c.1527G>A (p.Leu509=) c.1692G>A (p.Leu564=) c.1746G>A (p.Leu582=) | |
2 | g.98396751G>C | CA427820184 | CNGA3 | c.1581G>C (p.Leu527=) c.1593G>C (p.Leu531=) c.1527G>C (p.Leu509=) c.1692G>C (p.Leu564=) c.1746G>C (p.Leu582=) | |
2 | g.98396751G>T | CA427820185 | CNGA3 | c.1581G>T (p.Leu527=) c.1593G>T (p.Leu531=) c.1527G>T (p.Leu509=) c.1692G>T (p.Leu564=) c.1746G>T (p.Leu582=) | |
2 | g.98396752G>A | CA347833855 | CNGA3 | c.1582G>A (p.Ala528Thr) c.1594G>A (p.Ala532Thr) c.1528G>A (p.Ala510Thr) c.1693G>A (p.Ala565Thr) c.1747G>A (p.Ala583Thr) | |
2 | g.98396752G>C | CA347833856 | CNGA3 | c.1582G>C (p.Ala528Pro) c.1594G>C (p.Ala532Pro) c.1528G>C (p.Ala510Pro) c.1693G>C (p.Ala565Pro) c.1747G>C (p.Ala583Pro) | |
2 | g.98396752G>T | CA347833857 | CNGA3 | c.1582G>T (p.Ala528Ser) c.1594G>T (p.Ala532Ser) c.1528G>T (p.Ala510Ser) c.1693G>T (p.Ala565Ser) c.1747G>T (p.Ala583Ser) | |
2 | g.98396753C>A | CA347833858 | CNGA3 | c.1583C>A (p.Ala528Asp) c.1595C>A (p.Ala532Asp) c.1529C>A (p.Ala510Asp) c.1694C>A (p.Ala565Asp) c.1748C>A (p.Ala583Asp) | |
2 | g.98396753C>G | CA347833859 | CNGA3 | c.1583C>G (p.Ala528Gly) c.1595C>G (p.Ala532Gly) c.1529C>G (p.Ala510Gly) c.1694C>G (p.Ala565Gly) c.1748C>G (p.Ala583Gly) | |
2 | g.98396753C>T | CA347833860 | CNGA3 | c.1583C>T (p.Ala528Val) c.1595C>T (p.Ala532Val) c.1529C>T (p.Ala510Val) c.1694C>T (p.Ala565Val) c.1748C>T (p.Ala583Val) | COSMIC |
2 | g.98396754C>A | CA427820191 | CNGA3 | c.1584C>A (p.Ala528=) c.1596C>A (p.Ala532=) c.1530C>A (p.Ala510=) c.1695C>A (p.Ala565=) c.1749C>A (p.Ala583=) | ClinVar dbSNP gnomAD v4 |
2 | g.98396754C= | CA1273420050 | CNGA3 | c.1584C= (p.Ala528=) c.1596C= (p.Ala532=) c.1530C= (p.Ala510=) c.1695C= (p.Ala565=) c.1749C= (p.Ala583=) | |
2 | g.98396754C>G | CA427820193 | CNGA3 | c.1584C>G (p.Ala528=) c.1596C>G (p.Ala532=) c.1530C>G (p.Ala510=) c.1695C>G (p.Ala565=) c.1749C>G (p.Ala583=) | |
2 | g.98396754C>T | CA1794044 | CNGA3 | c.1584C>T (p.Ala528=) c.1596C>T (p.Ala532=) c.1530C>T (p.Ala510=) c.1695C>T (p.Ala565=) c.1749C>T (p.Ala583=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
2 | g.98396755G>A | CA254826 | CNGA3 | c.1585G>A (p.Val529Met) c.1597G>A (p.Val533Met) c.1531G>A (p.Val511Met) c.1696G>A (p.Val566Met) c.1750G>A (p.Val584Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.98396755G>C | CA347833861 | CNGA3 | c.1585G>C (p.Val529Leu) c.1597G>C (p.Val533Leu) c.1531G>C (p.Val511Leu) c.1696G>C (p.Val566Leu) c.1750G>C (p.Val584Leu) | gnomAD v4 |
2 | g.98396755G= | CA1273420051 | CNGA3 | c.1585G= (p.Val529=) c.1597G= (p.Val533=) c.1531G= (p.Val511=) c.1696G= (p.Val566=) c.1750G= (p.Val584=) | |
2 | g.98396755G>T | CA347833862 | CNGA3 | c.1585G>T (p.Val529Leu) c.1597G>T (p.Val533Leu) c.1531G>T (p.Val511Leu) c.1696G>T (p.Val566Leu) c.1750G>T (p.Val584Leu) | COSMIC |
2 | g.98396756T>A | CA347833863 | CNGA3 | c.1586T>A (p.Val529Glu) c.1598T>A (p.Val533Glu) c.1532T>A (p.Val511Glu) c.1697T>A (p.Val566Glu) c.1751T>A (p.Val584Glu) | |
2 | g.98396756T>C | CA52635874 | CNGA3 | c.1586T>C (p.Val529Ala) c.1598T>C (p.Val533Ala) c.1532T>C (p.Val511Ala) c.1697T>C (p.Val566Ala) c.1751T>C (p.Val584Ala) | dbSNP |
2 | g.98396756T>G | CA347833864 | CNGA3 | c.1586T>G (p.Val529Gly) c.1598T>G (p.Val533Gly) c.1532T>G (p.Val511Gly) c.1697T>G (p.Val566Gly) c.1751T>G (p.Val584Gly) | |
2 | g.98396756T= | CA1273420052 | CNGA3 | c.1586T= (p.Val529=) c.1598T= (p.Val533=) c.1532T= (p.Val511=) c.1697T= (p.Val566=) c.1751T= (p.Val584=) | |
2 | g.98396757G>A | CA427820195 | CNGA3 | c.1587G>A (p.Val529=) c.1599G>A (p.Val533=) c.1533G>A (p.Val511=) c.1698G>A (p.Val566=) c.1752G>A (p.Val584=) | gnomAD v4 |
2 | g.98396757G>C | CA427820197 | CNGA3 | c.1587G>C (p.Val529=) c.1599G>C (p.Val533=) c.1533G>C (p.Val511=) c.1698G>C (p.Val566=) c.1752G>C (p.Val584=) | |
2 | g.98396757G>T | CA427820198 | CNGA3 | c.1587G>T (p.Val529=) c.1599G>T (p.Val533=) c.1533G>T (p.Val511=) c.1698G>T (p.Val566=) c.1752G>T (p.Val584=) | |
2 | g.98396758G>A | CA347833866 | CNGA3 | c.1588G>A (p.Val530Met) c.1600G>A (p.Val534Met) c.1534G>A (p.Val512Met) c.1699G>A (p.Val567Met) c.1753G>A (p.Val585Met) | |
2 | g.98396758G>C | CA347833867 | CNGA3 | c.1588G>C (p.Val530Leu) c.1600G>C (p.Val534Leu) c.1534G>C (p.Val512Leu) c.1699G>C (p.Val567Leu) c.1753G>C (p.Val585Leu) | |
2 | g.98396758G= | CA1273420053 | CNGA3 | c.1588G= (p.Val530=) c.1600G= (p.Val534=) c.1534G= (p.Val512=) c.1699G= (p.Val567=) c.1753G= (p.Val585=) | |
2 | g.98396758G>T | CA347833865 | CNGA3 | c.1588G>T (p.Val530Leu) c.1600G>T (p.Val534Leu) c.1534G>T (p.Val512Leu) c.1699G>T (p.Val567Leu) c.1753G>T (p.Val585Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.98396759T>A | CA347833869 | CNGA3 | c.1589T>A (p.Val530Glu) c.1601T>A (p.Val534Glu) c.1535T>A (p.Val512Glu) c.1700T>A (p.Val567Glu) c.1754T>A (p.Val585Glu) | |
2 | g.98396759T>C | CA347833868 | CNGA3 | c.1589T>C (p.Val530Ala) c.1601T>C (p.Val534Ala) c.1535T>C (p.Val512Ala) c.1700T>C (p.Val567Ala) c.1754T>C (p.Val585Ala) | |
2 | g.98396759T>G | CA347833870 | CNGA3 | c.1589T>G (p.Val530Gly) c.1601T>G (p.Val534Gly) c.1535T>G (p.Val512Gly) c.1700T>G (p.Val567Gly) c.1754T>G (p.Val585Gly) | |
2 | g.98396760G>A | CA427820204 | CNGA3 | c.1590G>A (p.Val530=) c.1602G>A (p.Val534=) c.1536G>A (p.Val512=) c.1701G>A (p.Val567=) c.1755G>A (p.Val585=) | dbSNP gnomAD v4 |
2 | g.98396760G>C | CA427820207 | CNGA3 | c.1590G>C (p.Val530=) c.1602G>C (p.Val534=) c.1536G>C (p.Val512=) c.1701G>C (p.Val567=) c.1755G>C (p.Val585=) | |
2 | g.98396760G= | CA1273420054 | CNGA3 | c.1590G= (p.Val530=) c.1602G= (p.Val534=) c.1536G= (p.Val512=) c.1701G= (p.Val567=) c.1755G= (p.Val585=) | |
2 | g.98396760G>T | CA427820208 | CNGA3 | c.1590G>T (p.Val530=) c.1602G>T (p.Val534=) c.1536G>T (p.Val512=) c.1701G>T (p.Val567=) c.1755G>T (p.Val585=) | |
2 | g.98396761G>A | CA347833871 | CNGA3 | c.1591G>A (p.Ala531Thr) c.1603G>A (p.Ala535Thr) c.1537G>A (p.Ala513Thr) c.1702G>A (p.Ala568Thr) c.1756G>A (p.Ala586Thr) | |
2 | g.98396761G>C | CA347833872 | CNGA3 | c.1591G>C (p.Ala531Pro) c.1603G>C (p.Ala535Pro) c.1537G>C (p.Ala513Pro) c.1702G>C (p.Ala568Pro) c.1756G>C (p.Ala586Pro) | |
2 | g.98396761G>T | CA347833873 | CNGA3 | c.1591G>T (p.Ala531Ser) c.1603G>T (p.Ala535Ser) c.1537G>T (p.Ala513Ser) c.1702G>T (p.Ala568Ser) c.1756G>T (p.Ala586Ser) |