Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98396666G>ACA1794020CNGA3c.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
2g.98396666G>CCA347833672CNGA3c.1496G>C (p.Arg499Pro)
c.1508G>C (p.Arg503Pro)
c.1442G>C (p.Arg481Pro)
c.1607G>C (p.Arg536Pro)
c.1661G>C (p.Arg554Pro)
2g.98396666G=CA1273420008CNGA3c.1496G= (p.Arg499=)
c.1508G= (p.Arg503=)
c.1442G= (p.Arg481=)
c.1607G= (p.Arg536=)
c.1661G= (p.Arg554=)
2g.98396666G>TCA52635800CNGA3c.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
2g.98396667A>CCA427820006CNGA3c.1497A>C (p.Arg499=)
c.1509A>C (p.Arg503=)
c.1443A>C (p.Arg481=)
c.1608A>C (p.Arg536=)
c.1662A>C (p.Arg554=)
2g.98396667A>GCA427820007CNGA3c.1497A>G (p.Arg499=)
c.1509A>G (p.Arg503=)
c.1443A>G (p.Arg481=)
c.1608A>G (p.Arg536=)
c.1662A>G (p.Arg554=)
2g.98396667A>TCA427820008CNGA3c.1497A>T (p.Arg499=)
c.1509A>T (p.Arg503=)
c.1443A>T (p.Arg481=)
c.1608A>T (p.Arg536=)
c.1662A>T (p.Arg554=)
2g.98396668C>ACA347833673CNGA3c.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
2g.98396668C=CA1273420009CNGA3c.1498C= (p.Pro500=)
c.1510C= (p.Pro504=)
c.1444C= (p.Pro482=)
c.1609C= (p.Pro537=)
c.1663C= (p.Pro555=)
2g.98396668C>GCA347833675CNGA3c.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
2g.98396668C>TCA347833674CNGA3c.1498C>T (p.Pro500Ser)
c.1510C>T (p.Pro504Ser)
c.1444C>T (p.Pro482Ser)
c.1609C>T (p.Pro537Ser)
c.1663C>T (p.Pro555Ser)
2g.98396669C>ACA347833676CNGA3c.1499C>A (p.Pro500His)
c.1511C>A (p.Pro504His)
c.1445C>A (p.Pro482His)
c.1610C>A (p.Pro537His)
c.1664C>A (p.Pro555His)
2g.98396669C>GCA347833677CNGA3c.1499C>G (p.Pro500Arg)
c.1511C>G (p.Pro504Arg)
c.1445C>G (p.Pro482Arg)
c.1610C>G (p.Pro537Arg)
c.1664C>G (p.Pro555Arg)
2g.98396669C>TCA347833678CNGA3c.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
2g.98396670C>ACA427820011CNGA3c.1500C>A (p.Pro500=)
c.1512C>A (p.Pro504=)
c.1446C>A (p.Pro482=)
c.1611C>A (p.Pro537=)
c.1665C>A (p.Pro555=)
2g.98396670C>GCA427820012CNGA3c.1500C>G (p.Pro500=)
c.1512C>G (p.Pro504=)
c.1446C>G (p.Pro482=)
c.1611C>G (p.Pro537=)
c.1665C>G (p.Pro555=)
2g.98396670C>TCA427820013CNGA3c.1500C>T (p.Pro500=)
c.1512C>T (p.Pro504=)
c.1446C>T (p.Pro482=)
c.1611C>T (p.Pro537=)
c.1665C>T (p.Pro555=)
2g.98396671A=CA1273420010CNGA3c.1501A= (p.Thr501=)
c.1513A= (p.Thr505=)
c.1447A= (p.Thr483=)
c.1612A= (p.Thr538=)
c.1666A= (p.Thr556=)
2g.98396671A>CCA347833679CNGA3c.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
2g.98396671A>GCA347833680CNGA3c.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
2g.98396671A>TCA347833681CNGA3c.1501A>T (p.Thr501Ser)
c.1513A>T (p.Thr505Ser)
c.1447A>T (p.Thr483Ser)
c.1612A>T (p.Thr538Ser)
c.1666A>T (p.Thr556Ser)
2g.98396672C>ACA347833682CNGA3c.1502C>A (p.Thr501Asn)
c.1514C>A (p.Thr505Asn)
c.1448C>A (p.Thr483Asn)
c.1613C>A (p.Thr538Asn)
c.1667C>A (p.Thr556Asn)
2g.98396672C>GCA347833683CNGA3c.1502C>G (p.Thr501Ser)
c.1514C>G (p.Thr505Ser)
c.1448C>G (p.Thr483Ser)
c.1613C>G (p.Thr538Ser)
c.1667C>G (p.Thr556Ser)
2g.98396672C>TCA347833684CNGA3c.1502C>T (p.Thr501Ile)
c.1514C>T (p.Thr505Ile)
c.1448C>T (p.Thr483Ile)
c.1613C>T (p.Thr538Ile)
c.1667C>T (p.Thr556Ile)
2g.98396673T>ACA427820017CNGA3c.1503T>A (p.Thr501=)
c.1515T>A (p.Thr505=)
c.1449T>A (p.Thr483=)
c.1614T>A (p.Thr538=)
c.1668T>A (p.Thr556=)
2g.98396673T>CCA427820018CNGA3c.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
2g.98396673T>GCA427820019CNGA3c.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
2g.98396673T=CA1273420011CNGA3c.1503T= (p.Thr501=)
c.1515T= (p.Thr505=)
c.1449T= (p.Thr483=)
c.1614T= (p.Thr538=)
c.1668T= (p.Thr556=)
2g.98396674G>ACA347833685CNGA3c.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
2g.98396674G>CCA347833686CNGA3c.1504G>C (p.Val502Leu)
c.1516G>C (p.Val506Leu)
c.1450G>C (p.Val484Leu)
c.1615G>C (p.Val539Leu)
c.1669G>C (p.Val557Leu)
2g.98396674G>TCA347833687CNGA3c.1504G>T (p.Val502Leu)
c.1516G>T (p.Val506Leu)
c.1450G>T (p.Val484Leu)
c.1615G>T (p.Val539Leu)
c.1669G>T (p.Val557Leu)
2g.98396675T>ACA347833690CNGA3c.1505T>A (p.Val502Glu)
c.1517T>A (p.Val506Glu)
c.1451T>A (p.Val484Glu)
c.1616T>A (p.Val539Glu)
c.1670T>A (p.Val557Glu)
2g.98396675T>CCA347833688CNGA3c.1505T>C (p.Val502Ala)
c.1517T>C (p.Val506Ala)
c.1451T>C (p.Val484Ala)
c.1616T>C (p.Val539Ala)
c.1670T>C (p.Val557Ala)
2g.98396675T>GCA347833689CNGA3c.1505T>G (p.Val502Gly)
c.1517T>G (p.Val506Gly)
c.1451T>G (p.Val484Gly)
c.1616T>G (p.Val539Gly)
c.1670T>G (p.Val557Gly)
2g.98396676G>ACA427820024CNGA3c.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
2g.98396676G>CCA427820026CNGA3c.1506G>C (p.Val502=)
c.1518G>C (p.Val506=)
c.1452G>C (p.Val484=)
c.1617G>C (p.Val539=)
c.1671G>C (p.Val557=)
2g.98396676G>TCA427820028CNGA3c.1506G>T (p.Val502=)
c.1518G>T (p.Val506=)
c.1452G>T (p.Val484=)
c.1617G>T (p.Val539=)
c.1671G>T (p.Val557=)
2g.98396677T>ACA347833691CNGA3c.1507T>A (p.Phe503Ile)
c.1519T>A (p.Phe507Ile)
c.1453T>A (p.Phe485Ile)
c.1618T>A (p.Phe540Ile)
c.1672T>A (p.Phe558Ile)
2g.98396677T>CCA347833692CNGA3c.1507T>C (p.Phe503Leu)
c.1519T>C (p.Phe507Leu)
c.1453T>C (p.Phe485Leu)
c.1618T>C (p.Phe540Leu)
c.1672T>C (p.Phe558Leu)
2g.98396677T>GCA347833693CNGA3c.1507T>G (p.Phe503Val)
c.1519T>G (p.Phe507Val)
c.1453T>G (p.Phe485Val)
c.1618T>G (p.Phe540Val)
c.1672T>G (p.Phe558Val)
2g.98396678T>ACA1794021CNGA3c.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
2g.98396678T>CCA347833694CNGA3c.1508T>C (p.Phe503Ser)
c.1520T>C (p.Phe507Ser)
c.1454T>C (p.Phe485Ser)
c.1619T>C (p.Phe540Ser)
c.1673T>C (p.Phe558Ser)
2g.98396678T>GCA347833695CNGA3c.1508T>G (p.Phe503Cys)
c.1520T>G (p.Phe507Cys)
c.1454T>G (p.Phe485Cys)
c.1619T>G (p.Phe540Cys)
c.1673T>G (p.Phe558Cys)
2g.98396678T=CA1273420012CNGA3c.1508T= (p.Phe503=)
c.1520T= (p.Phe507=)
c.1454T= (p.Phe485=)
c.1619T= (p.Phe540=)
c.1673T= (p.Phe558=)
2g.98396679C>ACA347833696CNGA3c.1509C>A (p.Phe503Leu)
c.1521C>A (p.Phe507Leu)
c.1455C>A (p.Phe485Leu)
c.1620C>A (p.Phe540Leu)
c.1674C>A (p.Phe558Leu)
2g.98396679C>GCA347833697CNGA3c.1509C>G (p.Phe503Leu)
c.1521C>G (p.Phe507Leu)
c.1455C>G (p.Phe485Leu)
c.1620C>G (p.Phe540Leu)
c.1674C>G (p.Phe558Leu)
2g.98396679C>TCA427820030CNGA3c.1509C>T (p.Phe503=)
c.1521C>T (p.Phe507=)
c.1455C>T (p.Phe485=)
c.1620C>T (p.Phe540=)
c.1674C>T (p.Phe558=)
2g.98396680A=CA1273420013CNGA3c.1510A= (p.Ser504=)
c.1522A= (p.Ser508=)
c.1456A= (p.Ser486=)
c.1621A= (p.Ser541=)
c.1675A= (p.Ser559=)
2g.98396680A>CCA347833698CNGA3c.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
2g.98396680A>GCA347833699CNGA3c.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
2g.98396680A>TCA347833700CNGA3c.1510A>T (p.Ser504Cys)
c.1522A>T (p.Ser508Cys)
c.1456A>T (p.Ser486Cys)
c.1621A>T (p.Ser541Cys)
c.1675A>T (p.Ser559Cys)
2g.98396681G>ACA347833702CNGA3c.1511G>A (p.Ser504Asn)
c.1523G>A (p.Ser508Asn)
c.1457G>A (p.Ser486Asn)
c.1622G>A (p.Ser541Asn)
c.1676G>A (p.Ser559Asn)
2g.98396681G>CCA347833703CNGA3c.1511G>C (p.Ser504Thr)
c.1523G>C (p.Ser508Thr)
c.1457G>C (p.Ser486Thr)
c.1622G>C (p.Ser541Thr)
c.1676G>C (p.Ser559Thr)
2g.98396681G>TCA347833701CNGA3c.1511G>T (p.Ser504Ile)
c.1523G>T (p.Ser508Ile)
c.1457G>T (p.Ser486Ile)
c.1622G>T (p.Ser541Ile)
c.1676G>T (p.Ser559Ile)
2g.98396682C>ACA347833705CNGA3c.1512C>A (p.Ser504Arg)
c.1524C>A (p.Ser508Arg)
c.1458C>A (p.Ser486Arg)
c.1623C>A (p.Ser541Arg)
c.1677C>A (p.Ser559Arg)
2g.98396682C>GCA347833704CNGA3c.1512C>G (p.Ser504Arg)
c.1524C>G (p.Ser508Arg)
c.1458C>G (p.Ser486Arg)
c.1623C>G (p.Ser541Arg)
c.1677C>G (p.Ser559Arg)
2g.98396682C>TCA427820037CNGA3c.1512C>T (p.Ser504=)
c.1524C>T (p.Ser508=)
c.1458C>T (p.Ser486=)
c.1623C>T (p.Ser541=)
c.1677C>T (p.Ser559=)
2g.98396683C>ACA347833706CNGA3c.1513C>A (p.Pro505Thr)
c.1525C>A (p.Pro509Thr)
c.1459C>A (p.Pro487Thr)
c.1624C>A (p.Pro542Thr)
c.1678C>A (p.Pro560Thr)
2g.98396683C>GCA347833707CNGA3c.1513C>G (p.Pro505Ala)
c.1525C>G (p.Pro509Ala)
c.1459C>G (p.Pro487Ala)
c.1624C>G (p.Pro542Ala)
c.1678C>G (p.Pro560Ala)
2g.98396683C>TCA347833708CNGA3c.1513C>T (p.Pro505Ser)
c.1525C>T (p.Pro509Ser)
c.1459C>T (p.Pro487Ser)
c.1624C>T (p.Pro542Ser)
c.1678C>T (p.Pro560Ser)
2g.98396684C>ACA347833709CNGA3c.1514C>A (p.Pro505His)
c.1526C>A (p.Pro509His)
c.1460C>A (p.Pro487His)
c.1625C>A (p.Pro542His)
c.1679C>A (p.Pro560His)
2g.98396684C>GCA347833710CNGA3c.1514C>G (p.Pro505Arg)
c.1526C>G (p.Pro509Arg)
c.1460C>G (p.Pro487Arg)
c.1625C>G (p.Pro542Arg)
c.1679C>G (p.Pro560Arg)
2g.98396684C>TCA347833711CNGA3c.1514C>T (p.Pro505Leu)
c.1526C>T (p.Pro509Leu)
c.1460C>T (p.Pro487Leu)
c.1625C>T (p.Pro542Leu)
c.1679C>T (p.Pro560Leu)
2g.98396685T>ACA427820044CNGA3c.1515T>A (p.Pro505=)
c.1527T>A (p.Pro509=)
c.1461T>A (p.Pro487=)
c.1626T>A (p.Pro542=)
c.1680T>A (p.Pro560=)
2g.98396685T>CCA427820043CNGA3c.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
2g.98396685T>GCA1794022CNGA3c.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
2g.98396685T=CA1273420015CNGA3c.1515T= (p.Pro505=)
c.1527T= (p.Pro509=)
c.1461T= (p.Pro487=)
c.1626T= (p.Pro542=)
c.1680T= (p.Pro560=)
2g.98396685_98396686delinsTGCA1273420014CNGA3c.1515_1516delinsTG (p.Pro505=)
c.1527_1528delinsTG (p.Pro509=)
c.1461_1462delinsTG (p.Pro487=)
c.1626_1627delinsTG (p.Pro542=)
c.1680_1681delinsTG (p.Pro560=)
2g.98396686G>ACA347833712CNGA3c.1516G>A (p.Gly506Arg)
c.1528G>A (p.Gly510Arg)
c.1462G>A (p.Gly488Arg)
c.1627G>A (p.Gly543Arg)
c.1681G>A (p.Gly561Arg)
2g.98396686G>CCA347833714CNGA3c.1516G>C (p.Gly506Arg)
c.1528G>C (p.Gly510Arg)
c.1462G>C (p.Gly488Arg)
c.1627G>C (p.Gly543Arg)
c.1681G>C (p.Gly561Arg)
2g.98396686G>TCA347833713CNGA3c.1516G>T (p.Gly506Trp)
c.1528G>T (p.Gly510Trp)
c.1462G>T (p.Gly488Trp)
c.1627G>T (p.Gly543Trp)
c.1681G>T (p.Gly561Trp)
2g.98396689delCA1794023CNGA3c.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
2g.98396687G>ACA347833715CNGA3c.1517G>A (p.Gly506Glu)
c.1529G>A (p.Gly510Glu)
c.1463G>A (p.Gly488Glu)
c.1628G>A (p.Gly543Glu)
c.1682G>A (p.Gly561Glu)
2g.98396687G>CCA347833716CNGA3c.1517G>C (p.Gly506Ala)
c.1529G>C (p.Gly510Ala)
c.1463G>C (p.Gly488Ala)
c.1628G>C (p.Gly543Ala)
c.1682G>C (p.Gly561Ala)
2g.98396687G=CA1273420016CNGA3c.1517G= (p.Gly506=)
c.1529G= (p.Gly510=)
c.1463G= (p.Gly488=)
c.1628G= (p.Gly543=)
c.1682G= (p.Gly561=)
2g.98396687G>TCA347833717CNGA3c.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
2g.98396688G>ACA427820049CNGA3c.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
2g.98396688G>CCA427820051CNGA3c.1518G>C (p.Gly506=)
c.1530G>C (p.Gly510=)
c.1464G>C (p.Gly488=)
c.1629G>C (p.Gly543=)
c.1683G>C (p.Gly561=)
2g.98396688G>TCA427820052CNGA3c.1518G>T (p.Gly506=)
c.1530G>T (p.Gly510=)
c.1464G>T (p.Gly488=)
c.1629G>T (p.Gly543=)
c.1683G>T (p.Gly561=)
2g.98396689G>ACA347833718CNGA3c.1519G>A (p.Asp507Asn)
c.1531G>A (p.Asp511Asn)
c.1465G>A (p.Asp489Asn)
c.1630G>A (p.Asp544Asn)
c.1684G>A (p.Asp562Asn)
2g.98396689G>CCA347833720CNGA3c.1519G>C (p.Asp507His)
c.1531G>C (p.Asp511His)
c.1465G>C (p.Asp489His)
c.1630G>C (p.Asp544His)
c.1684G>C (p.Asp562His)
2g.98396689G>TCA347833719CNGA3c.1519G>T (p.Asp507Tyr)
c.1531G>T (p.Asp511Tyr)
c.1465G>T (p.Asp489Tyr)
c.1630G>T (p.Asp544Tyr)
c.1684G>T (p.Asp562Tyr)
2g.98396690A=CA1273420017CNGA3c.1520A= (p.Asp507=)
c.1532A= (p.Asp511=)
c.1466A= (p.Asp489=)
c.1631A= (p.Asp544=)
c.1685A= (p.Asp562=)
2g.98396690A>CCA347833721CNGA3c.1520A>C (p.Asp507Ala)
c.1532A>C (p.Asp511Ala)
c.1466A>C (p.Asp489Ala)
c.1631A>C (p.Asp544Ala)
c.1685A>C (p.Asp562Ala)
2g.98396690A>GCA1794025CNGA3c.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
2g.98396690A>TCA1794024CNGA3c.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
2g.98396691T>ACA347833722CNGA3c.1521T>A (p.Asp507Glu)
c.1533T>A (p.Asp511Glu)
c.1467T>A (p.Asp489Glu)
c.1632T>A (p.Asp544Glu)
c.1686T>A (p.Asp562Glu)
2g.98396691T>CCA427820054CNGA3c.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
2g.98396691T>GCA347833723CNGA3c.1521T>G (p.Asp507Glu)
c.1533T>G (p.Asp511Glu)
c.1467T>G (p.Asp489Glu)
c.1632T>G (p.Asp544Glu)
c.1686T>G (p.Asp562Glu)
2g.98396692T>ACA347833724CNGA3c.1522T>A (p.Tyr508Asn)
c.1534T>A (p.Tyr512Asn)
c.1468T>A (p.Tyr490Asn)
c.1633T>A (p.Tyr545Asn)
c.1687T>A (p.Tyr563Asn)
2g.98396692T>CCA1794026CNGA3c.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
2g.98396692T>GCA347833725CNGA3c.1522T>G (p.Tyr508Asp)
c.1534T>G (p.Tyr512Asp)
c.1468T>G (p.Tyr490Asp)
c.1633T>G (p.Tyr545Asp)
c.1687T>G (p.Tyr563Asp)
2g.98396692T=CA1273420018CNGA3c.1522T= (p.Tyr508=)
c.1534T= (p.Tyr512=)
c.1468T= (p.Tyr490=)
c.1633T= (p.Tyr545=)
c.1687T= (p.Tyr563=)
2g.98396693A=CA1273420019CNGA3c.1523A= (p.Tyr508=)
c.1535A= (p.Tyr512=)
c.1469A= (p.Tyr490=)
c.1634A= (p.Tyr545=)
c.1688A= (p.Tyr563=)
2g.98396693A>CCA347833726CNGA3c.1523A>C (p.Tyr508Ser)
c.1535A>C (p.Tyr512Ser)
c.1469A>C (p.Tyr490Ser)
c.1634A>C (p.Tyr545Ser)
c.1688A>C (p.Tyr563Ser)
2g.98396693A>GCA347833727CNGA3c.1523A>G (p.Tyr508Cys)
c.1535A>G (p.Tyr512Cys)
c.1469A>G (p.Tyr490Cys)
c.1634A>G (p.Tyr545Cys)
c.1688A>G (p.Tyr563Cys)
2g.98396693A>TCA1794027CNGA3c.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
2g.98396694T>ACA347833729CNGA3c.1524T>A (p.Tyr508Ter)
c.1536T>A (p.Tyr512Ter)
c.1470T>A (p.Tyr490Ter)
c.1635T>A (p.Tyr545Ter)
c.1689T>A (p.Tyr563Ter)
2g.98396694T>CCA427820058CNGA3c.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
2g.98396694T>GCA347833728CNGA3c.1524T>G (p.Tyr508Ter)
c.1536T>G (p.Tyr512Ter)
c.1470T>G (p.Tyr490Ter)
c.1635T>G (p.Tyr545Ter)
c.1689T>G (p.Tyr563Ter)
2g.98396695A=CA1273420020CNGA3c.1525A= (p.Ile509=)
c.1537A= (p.Ile513=)
c.1471A= (p.Ile491=)
c.1636A= (p.Ile546=)
c.1690A= (p.Ile564=)
2g.98396695A>CCA347833730CNGA3c.1525A>C (p.Ile509Leu)
c.1537A>C (p.Ile513Leu)
c.1471A>C (p.Ile491Leu)
c.1636A>C (p.Ile546Leu)
c.1690A>C (p.Ile564Leu)
2g.98396695A>GCA347833731CNGA3c.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
2g.98396695A>TCA347833732CNGA3c.1525A>T (p.Ile509Phe)
c.1537A>T (p.Ile513Phe)
c.1471A>T (p.Ile491Phe)
c.1636A>T (p.Ile546Phe)
c.1690A>T (p.Ile564Phe)
2g.98396696T>ACA347833733CNGA3c.1526T>A (p.Ile509Asn)
c.1538T>A (p.Ile513Asn)
c.1472T>A (p.Ile491Asn)
c.1637T>A (p.Ile546Asn)
c.1691T>A (p.Ile564Asn)
2g.98396696T>CCA347833734CNGA3c.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
2g.98396696T>GCA347833735CNGA3c.1526T>G (p.Ile509Ser)
c.1538T>G (p.Ile513Ser)
c.1472T>G (p.Ile491Ser)
c.1637T>G (p.Ile546Ser)
c.1691T>G (p.Ile564Ser)
2g.98396696T=CA1273420021CNGA3c.1526T= (p.Ile509=)
c.1538T= (p.Ile513=)
c.1472T= (p.Ile491=)
c.1637T= (p.Ile546=)
c.1691T= (p.Ile564=)
2g.98396697C>ACA427820062CNGA3c.1527C>A (p.Ile509=)
c.1539C>A (p.Ile513=)
c.1473C>A (p.Ile491=)
c.1638C>A (p.Ile546=)
c.1692C>A (p.Ile564=)
2g.98396697C>GCA347833736CNGA3c.1527C>G (p.Ile509Met)
c.1539C>G (p.Ile513Met)
c.1473C>G (p.Ile491Met)
c.1638C>G (p.Ile546Met)
c.1692C>G (p.Ile564Met)
2g.98396697C>TCA427820066CNGA3c.1527C>T (p.Ile509=)
c.1539C>T (p.Ile513=)
c.1473C>T (p.Ile491=)
c.1638C>T (p.Ile546=)
c.1692C>T (p.Ile564=)
2g.98396698T>ACA347833739CNGA3c.1528T>A (p.Cys510Ser)
c.1540T>A (p.Cys514Ser)
c.1474T>A (p.Cys492Ser)
c.1639T>A (p.Cys547Ser)
c.1693T>A (p.Cys565Ser)
2g.98396698T>CCA347833737CNGA3c.1528T>C (p.Cys510Arg)
c.1540T>C (p.Cys514Arg)
c.1474T>C (p.Cys492Arg)
c.1639T>C (p.Cys547Arg)
c.1693T>C (p.Cys565Arg)
2g.98396698T>GCA347833738CNGA3c.1528T>G (p.Cys510Gly)
c.1540T>G (p.Cys514Gly)
c.1474T>G (p.Cys492Gly)
c.1639T>G (p.Cys547Gly)
c.1693T>G (p.Cys565Gly)
2g.98396699G>ACA52635815CNGA3c.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
2g.98396699G>CCA347833740CNGA3c.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
2g.98396699G=CA1273420022CNGA3c.1529G= (p.Cys510=)
c.1541G= (p.Cys514=)
c.1475G= (p.Cys492=)
c.1640G= (p.Cys547=)
c.1694G= (p.Cys565=)
2g.98396699G>TCA347833741CNGA3c.1529G>T (p.Cys510Phe)
c.1541G>T (p.Cys514Phe)
c.1475G>T (p.Cys492Phe)
c.1640G>T (p.Cys547Phe)
c.1694G>T (p.Cys565Phe)
2g.98396700C>ACA347833742CNGA3c.1530C>A (p.Cys510Ter)
c.1542C>A (p.Cys514Ter)
c.1476C>A (p.Cys492Ter)
c.1641C>A (p.Cys547Ter)
c.1695C>A (p.Cys565Ter)
2g.98396700C=CA1273420023CNGA3c.1530C= (p.Cys510=)
c.1542C= (p.Cys514=)
c.1476C= (p.Cys492=)
c.1641C= (p.Cys547=)
c.1695C= (p.Cys565=)
2g.98396700C>GCA347833743CNGA3c.1530C>G (p.Cys510Trp)
c.1542C>G (p.Cys514Trp)
c.1476C>G (p.Cys492Trp)
c.1641C>G (p.Cys547Trp)
c.1695C>G (p.Cys565Trp)
2g.98396700C>TCA427820071CNGA3c.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
2g.98396701A=CA1273420024CNGA3c.1531A= (p.Lys511=)
c.1543A= (p.Lys515=)
c.1477A= (p.Lys493=)
c.1642A= (p.Lys548=)
c.1696A= (p.Lys566=)
2g.98396701A>CCA347833744CNGA3c.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
2g.98396701A>GCA347833746CNGA3c.1531A>G (p.Lys511Glu)
c.1543A>G (p.Lys515Glu)
c.1477A>G (p.Lys493Glu)
c.1642A>G (p.Lys548Glu)
c.1696A>G (p.Lys566Glu)
2g.98396701A>TCA347833745CNGA3c.1531A>T (p.Lys511Ter)
c.1543A>T (p.Lys515Ter)
c.1477A>T (p.Lys493Ter)
c.1642A>T (p.Lys548Ter)
c.1696A>T (p.Lys566Ter)
2g.98396704_98396706delCA2697550995CNGA3c.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
2g.98396702A>CCA347833747CNGA3c.1532A>C (p.Lys511Thr)
c.1544A>C (p.Lys515Thr)
c.1478A>C (p.Lys493Thr)
c.1643A>C (p.Lys548Thr)
c.1697A>C (p.Lys566Thr)
2g.98396702A>GCA347833748CNGA3c.1532A>G (p.Lys511Arg)
c.1544A>G (p.Lys515Arg)
c.1478A>G (p.Lys493Arg)
c.1643A>G (p.Lys548Arg)
c.1697A>G (p.Lys566Arg)
2g.98396702A>TCA347833749CNGA3c.1532A>T (p.Lys511Met)
c.1544A>T (p.Lys515Met)
c.1478A>T (p.Lys493Met)
c.1643A>T (p.Lys548Met)
c.1697A>T (p.Lys566Met)
2g.98396703G>ACA427820077CNGA3c.1533G>A (p.Lys511=)
c.1545G>A (p.Lys515=)
c.1479G>A (p.Lys493=)
c.1644G>A (p.Lys548=)
c.1698G>A (p.Lys566=)
2g.98396703G>CCA347833750CNGA3c.1533G>C (p.Lys511Asn)
c.1545G>C (p.Lys515Asn)
c.1479G>C (p.Lys493Asn)
c.1644G>C (p.Lys548Asn)
c.1698G>C (p.Lys566Asn)
2g.98396703G>TCA347833751CNGA3c.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
2g.98396704A>CCA347833752CNGA3c.1534A>C (p.Lys512Gln)
c.1546A>C (p.Lys516Gln)
c.1480A>C (p.Lys494Gln)
c.1645A>C (p.Lys549Gln)
c.1699A>C (p.Lys567Gln)
2g.98396704A>GCA347833753CNGA3c.1534A>G (p.Lys512Glu)
c.1546A>G (p.Lys516Glu)
c.1480A>G (p.Lys494Glu)
c.1645A>G (p.Lys549Glu)
c.1699A>G (p.Lys567Glu)
2g.98396704A>TCA347833754CNGA3c.1534A>T (p.Lys512Ter)
c.1546A>T (p.Lys516Ter)
c.1480A>T (p.Lys494Ter)
c.1645A>T (p.Lys549Ter)
c.1699A>T (p.Lys567Ter)
2g.98396705A>CCA347833755CNGA3c.1535A>C (p.Lys512Thr)
c.1547A>C (p.Lys516Thr)
c.1481A>C (p.Lys494Thr)
c.1646A>C (p.Lys549Thr)
c.1700A>C (p.Lys567Thr)
2g.98396705A>GCA347833756CNGA3c.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
2g.98396705A>TCA347833757CNGA3c.1535A>T (p.Lys512Met)
c.1547A>T (p.Lys516Met)
c.1481A>T (p.Lys494Met)
c.1646A>T (p.Lys549Met)
c.1700A>T (p.Lys567Met)
2g.98396705_98396706delinsAGCA1273420025CNGA3c.1535_1536delinsAG (p.Lys512=)
c.1547_1548delinsAG (p.Lys516=)
c.1481_1482delinsAG (p.Lys494=)
c.1646_1647delinsAG (p.Lys549=)
c.1700_1701delinsAG (p.Lys567=)
2g.98396706G>ACA427820081CNGA3c.1536G>A (p.Lys512=)
c.1548G>A (p.Lys516=)
c.1482G>A (p.Lys494=)
c.1647G>A (p.Lys549=)
c.1701G>A (p.Lys567=)
2g.98396706G>CCA347833758CNGA3c.1536G>C (p.Lys512Asn)
c.1548G>C (p.Lys516Asn)
c.1482G>C (p.Lys494Asn)
c.1647G>C (p.Lys549Asn)
c.1701G>C (p.Lys567Asn)
2g.98396706G>TCA347833759CNGA3c.1536G>T (p.Lys512Asn)
c.1548G>T (p.Lys516Asn)
c.1482G>T (p.Lys494Asn)
c.1647G>T (p.Lys549Asn)
c.1701G>T (p.Lys567Asn)
2g.98396708delCA1273420026CNGA3c.1538del (p.Gly513GlufsTer?)
c.1550del (p.Gly517GlufsTer?)
c.1484del (p.Gly495GlufsTer?)
c.1649del (p.Gly550GlufsTer?)
c.1703del (p.Gly568GlufsTer?)
 dbSNP
2g.98396707G>ACA1794028CNGA3c.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
2g.98396707G>CCA347833761CNGA3c.1537G>C (p.Gly513Arg)
c.1549G>C (p.Gly517Arg)
c.1483G>C (p.Gly495Arg)
c.1648G>C (p.Gly550Arg)
c.1702G>C (p.Gly568Arg)
2g.98396707G=CA1273420027CNGA3c.1537G= (p.Gly513=)
c.1549G= (p.Gly517=)
c.1483G= (p.Gly495=)
c.1648G= (p.Gly550=)
c.1702G= (p.Gly568=)
2g.98396707G>TCA347833760CNGA3c.1537G>T (p.Gly513Ter)
c.1549G>T (p.Gly517Ter)
c.1483G>T (p.Gly495Ter)
c.1648G>T (p.Gly550Ter)
c.1702G>T (p.Gly568Ter)
2g.98396708G>ACA347833762CNGA3c.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
2g.98396708G>CCA1794029CNGA3c.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
2g.98396708G=CA1273420028CNGA3c.1538G= (p.Gly513=)
c.1550G= (p.Gly517=)
c.1484G= (p.Gly495=)
c.1649G= (p.Gly550=)
c.1703G= (p.Gly568=)
2g.98396708G>TCA347833763CNGA3c.1538G>T (p.Gly513Val)
c.1550G>T (p.Gly517Val)
c.1484G>T (p.Gly495Val)
c.1649G>T (p.Gly550Val)
c.1703G>T (p.Gly568Val)
2g.98396709A=CA1273420029CNGA3c.1539A= (p.Gly513=)
c.1551A= (p.Gly517=)
c.1485A= (p.Gly495=)
c.1650A= (p.Gly550=)
c.1704A= (p.Gly568=)
2g.98396709A>CCA1794030CNGA3c.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
2g.98396709A>GCA427820087CNGA3c.1539A>G (p.Gly513=)
c.1551A>G (p.Gly517=)
c.1485A>G (p.Gly495=)
c.1650A>G (p.Gly550=)
c.1704A>G (p.Gly568=)
2g.98396709A>TCA427820088CNGA3c.1539A>T (p.Gly513=)
c.1551A>T (p.Gly517=)
c.1485A>T (p.Gly495=)
c.1650A>T (p.Gly550=)
c.1704A>T (p.Gly568=)
2g.98396710G>ACA347833766CNGA3c.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
2g.98396710G>CCA347833764CNGA3c.1540G>C (p.Asp514His)
c.1552G>C (p.Asp518His)
c.1486G>C (p.Asp496His)
c.1651G>C (p.Asp551His)
c.1705G>C (p.Asp569His)
2g.98396710G=CA1273420030CNGA3c.1540G= (p.Asp514=)
c.1552G= (p.Asp518=)
c.1486G= (p.Asp496=)
c.1651G= (p.Asp551=)
c.1705G= (p.Asp569=)
2g.98396710G>TCA347833765CNGA3c.1540G>T (p.Asp514Tyr)
c.1552G>T (p.Asp518Tyr)
c.1486G>T (p.Asp496Tyr)
c.1651G>T (p.Asp551Tyr)
c.1705G>T (p.Asp569Tyr)
2g.98396711A=CA1273420031CNGA3c.1541A= (p.Asp514=)
c.1553A= (p.Asp518=)
c.1487A= (p.Asp496=)
c.1652A= (p.Asp551=)
c.1706A= (p.Asp569=)
2g.98396711A>CCA347833767CNGA3c.1541A>C (p.Asp514Ala)
c.1553A>C (p.Asp518Ala)
c.1487A>C (p.Asp496Ala)
c.1652A>C (p.Asp551Ala)
c.1706A>C (p.Asp569Ala)
2g.98396711A>GCA347833768CNGA3c.1541A>G (p.Asp514Gly)
c.1553A>G (p.Asp518Gly)
c.1487A>G (p.Asp496Gly)
c.1652A>G (p.Asp551Gly)
c.1706A>G (p.Asp569Gly)
2g.98396711A>TCA1794031CNGA3c.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
2g.98396712T>ACA347833769CNGA3c.1542T>A (p.Asp514Glu)
c.1554T>A (p.Asp518Glu)
c.1488T>A (p.Asp496Glu)
c.1653T>A (p.Asp551Glu)
c.1707T>A (p.Asp569Glu)
2g.98396712T>CCA427820096CNGA3c.1542T>C (p.Asp514=)
c.1554T>C (p.Asp518=)
c.1488T>C (p.Asp496=)
c.1653T>C (p.Asp551=)
c.1707T>C (p.Asp569=)
2g.98396712T>GCA347833770CNGA3c.1542T>G (p.Asp514Glu)
c.1554T>G (p.Asp518Glu)
c.1488T>G (p.Asp496Glu)
c.1653T>G (p.Asp551Glu)
c.1707T>G (p.Asp569Glu)
2g.98396713A=CA1273420032CNGA3c.1543A= (p.Ile515=)
c.1555A= (p.Ile519=)
c.1489A= (p.Ile497=)
c.1654A= (p.Ile552=)
c.1708A= (p.Ile570=)
2g.98396713A>CCA347833771CNGA3c.1543A>C (p.Ile515Leu)
c.1555A>C (p.Ile519Leu)
c.1489A>C (p.Ile497Leu)
c.1654A>C (p.Ile552Leu)
c.1708A>C (p.Ile570Leu)
2g.98396713A>GCA1794032CNGA3c.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
2g.98396713A>TCA347833772CNGA3c.1543A>T (p.Ile515Phe)
c.1555A>T (p.Ile519Phe)
c.1489A>T (p.Ile497Phe)
c.1654A>T (p.Ile552Phe)
c.1708A>T (p.Ile570Phe)
2g.98396714T>ACA347833773CNGA3c.1544T>A (p.Ile515Asn)
c.1556T>A (p.Ile519Asn)
c.1490T>A (p.Ile497Asn)
c.1655T>A (p.Ile552Asn)
c.1709T>A (p.Ile570Asn)
2g.98396714T>CCA347833774CNGA3c.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
2g.98396714T>GCA347833775CNGA3c.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
2g.98396714T=CA1273420033CNGA3c.1544T= (p.Ile515=)
c.1556T= (p.Ile519=)
c.1490T= (p.Ile497=)
c.1655T= (p.Ile552=)
c.1709T= (p.Ile570=)
2g.98396715T>ACA427820101CNGA3c.1545T>A (p.Ile515=)
c.1557T>A (p.Ile519=)
c.1491T>A (p.Ile497=)
c.1656T>A (p.Ile552=)
c.1710T>A (p.Ile570=)
2g.98396715T>CCA427820102CNGA3c.1545T>C (p.Ile515=)
c.1557T>C (p.Ile519=)
c.1491T>C (p.Ile497=)
c.1656T>C (p.Ile552=)
c.1710T>C (p.Ile570=)
2g.98396715T>GCA347833776CNGA3c.1545T>G (p.Ile515Met)
c.1557T>G (p.Ile519Met)
c.1491T>G (p.Ile497Met)
c.1656T>G (p.Ile552Met)
c.1710T>G (p.Ile570Met)
2g.98396716G>ACA347833778CNGA3c.1546G>A (p.Gly516Arg)
c.1558G>A (p.Gly520Arg)
c.1492G>A (p.Gly498Arg)
c.1657G>A (p.Gly553Arg)
c.1711G>A (p.Gly571Arg)
2g.98396716G>CCA347833777CNGA3c.1546G>C (p.Gly516Arg)
c.1558G>C (p.Gly520Arg)
c.1492G>C (p.Gly498Arg)
c.1657G>C (p.Gly553Arg)
c.1711G>C (p.Gly571Arg)
2g.98396716G=CA1273420034CNGA3c.1546G= (p.Gly516=)
c.1558G= (p.Gly520=)
c.1492G= (p.Gly498=)
c.1657G= (p.Gly553=)
c.1711G= (p.Gly571=)
2g.98396716G>TCA1794033CNGA3c.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
2g.98396717G>ACA347833779CNGA3c.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
2g.98396717G>CCA52635830CNGA3c.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
2g.98396717G=CA1273420035CNGA3c.1547G= (p.Gly516=)
c.1559G= (p.Gly520=)
c.1493G= (p.Gly498=)
c.1658G= (p.Gly553=)
c.1712G= (p.Gly571=)
2g.98396717G>TCA347833780CNGA3c.1547G>T (p.Gly516Val)
c.1559G>T (p.Gly520Val)
c.1493G>T (p.Gly498Val)
c.1658G>T (p.Gly553Val)
c.1712G>T (p.Gly571Val)
2g.98396718G>ACA427820105CNGA3c.1548G>A (p.Gly516=)
c.1560G>A (p.Gly520=)
c.1494G>A (p.Gly498=)
c.1659G>A (p.Gly553=)
c.1713G>A (p.Gly571=)
2g.98396718G>CCA427820106CNGA3c.1548G>C (p.Gly516=)
c.1560G>C (p.Gly520=)
c.1494G>C (p.Gly498=)
c.1659G>C (p.Gly553=)
c.1713G>C (p.Gly571=)
2g.98396718G>TCA427820107CNGA3c.1548G>T (p.Gly516=)
c.1560G>T (p.Gly520=)
c.1494G>T (p.Gly498=)
c.1659G>T (p.Gly553=)
c.1713G>T (p.Gly571=)
2g.98396719A>CCA347833781CNGA3c.1549A>C (p.Lys517Gln)
c.1561A>C (p.Lys521Gln)
c.1495A>C (p.Lys499Gln)
c.1660A>C (p.Lys554Gln)
c.1714A>C (p.Lys572Gln)
2g.98396719A>GCA347833782CNGA3c.1549A>G (p.Lys517Glu)
c.1561A>G (p.Lys521Glu)
c.1495A>G (p.Lys499Glu)
c.1660A>G (p.Lys554Glu)
c.1714A>G (p.Lys572Glu)
2g.98396719A>TCA347833783CNGA3c.1549A>T (p.Lys517Ter)
c.1561A>T (p.Lys521Ter)
c.1495A>T (p.Lys499Ter)
c.1660A>T (p.Lys554Ter)
c.1714A>T (p.Lys572Ter)
2g.98396720A=CA1273420036CNGA3c.1550A= (p.Lys517=)
c.1562A= (p.Lys521=)
c.1496A= (p.Lys499=)
c.1661A= (p.Lys554=)
c.1715A= (p.Lys572=)
2g.98396720A>CCA347833784CNGA3c.1550A>C (p.Lys517Thr)
c.1562A>C (p.Lys521Thr)
c.1496A>C (p.Lys499Thr)
c.1661A>C (p.Lys554Thr)
c.1715A>C (p.Lys572Thr)
2g.98396720A>GCA347833785CNGA3c.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
2g.98396720A>TCA347833786CNGA3c.1550A>T (p.Lys517Met)
c.1562A>T (p.Lys521Met)
c.1496A>T (p.Lys499Met)
c.1661A>T (p.Lys554Met)
c.1715A>T (p.Lys572Met)
2g.98396721G>ACA1794034CNGA3c.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
2g.98396721G>CCA347833787CNGA3c.1551G>C (p.Lys517Asn)
c.1563G>C (p.Lys521Asn)
c.1497G>C (p.Lys499Asn)
c.1662G>C (p.Lys554Asn)
c.1716G>C (p.Lys572Asn)
2g.98396721G=CA1273420037CNGA3c.1551G= (p.Lys517=)
c.1563G= (p.Lys521=)
c.1497G= (p.Lys499=)
c.1662G= (p.Lys554=)
c.1716G= (p.Lys572=)
2g.98396721G>TCA347833788CNGA3c.1551G>T (p.Lys517Asn)
c.1563G>T (p.Lys521Asn)
c.1497G>T (p.Lys499Asn)
c.1662G>T (p.Lys554Asn)
c.1716G>T (p.Lys572Asn)
2g.98396722G>ACA347833789CNGA3c.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
2g.98396722G>CCA347833791CNGA3c.1552G>C (p.Glu518Gln)
c.1564G>C (p.Glu522Gln)
c.1498G>C (p.Glu500Gln)
c.1663G>C (p.Glu555Gln)
c.1717G>C (p.Glu573Gln)
2g.98396722G>TCA347833790CNGA3c.1552G>T (p.Glu518Ter)
c.1564G>T (p.Glu522Ter)
c.1498G>T (p.Glu500Ter)
c.1663G>T (p.Glu555Ter)
c.1717G>T (p.Glu573Ter)
2g.98396723A>CCA347833792CNGA3c.1553A>C (p.Glu518Ala)
c.1565A>C (p.Glu522Ala)
c.1499A>C (p.Glu500Ala)
c.1664A>C (p.Glu555Ala)
c.1718A>C (p.Glu573Ala)
2g.98396723A>GCA347833793CNGA3c.1553A>G (p.Glu518Gly)
c.1565A>G (p.Glu522Gly)
c.1499A>G (p.Glu500Gly)
c.1664A>G (p.Glu555Gly)
c.1718A>G (p.Glu573Gly)
2g.98396723A>TCA347833794CNGA3c.1553A>T (p.Glu518Val)
c.1565A>T (p.Glu522Val)
c.1499A>T (p.Glu500Val)
c.1664A>T (p.Glu555Val)
c.1718A>T (p.Glu573Val)
2g.98396724G>ACA1794035CNGA3c.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
2g.98396724G>CCA347833795CNGA3c.1554G>C (p.Glu518Asp)
c.1566G>C (p.Glu522Asp)
c.1500G>C (p.Glu500Asp)
c.1665G>C (p.Glu555Asp)
c.1719G>C (p.Glu573Asp)
2g.98396724G=CA1273420038CNGA3c.1554G= (p.Glu518=)
c.1566G= (p.Glu522=)
c.1500G= (p.Glu500=)
c.1665G= (p.Glu555=)
c.1719G= (p.Glu573=)
2g.98396724G>TCA347833796CNGA3c.1554G>T (p.Glu518Asp)
c.1566G>T (p.Glu522Asp)
c.1500G>T (p.Glu500Asp)
c.1665G>T (p.Glu555Asp)
c.1719G>T (p.Glu573Asp)
2g.98396725A>CCA347833797CNGA3c.1555A>C (p.Met519Leu)
c.1567A>C (p.Met523Leu)
c.1501A>C (p.Met501Leu)
c.1666A>C (p.Met556Leu)
c.1720A>C (p.Met574Leu)
2g.98396725A>GCA347833798CNGA3c.1555A>G (p.Met519Val)
c.1567A>G (p.Met523Val)
c.1501A>G (p.Met501Val)
c.1666A>G (p.Met556Val)
c.1720A>G (p.Met574Val)
2g.98396725A>TCA347833799CNGA3c.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
2g.98396726T>ACA347833800CNGA3c.1556T>A (p.Met519Lys)
c.1568T>A (p.Met523Lys)
c.1502T>A (p.Met501Lys)
c.1667T>A (p.Met556Lys)
c.1721T>A (p.Met574Lys)
2g.98396726T>CCA347833801CNGA3c.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
2g.98396726T>GCA347833802CNGA3c.1556T>G (p.Met519Arg)
c.1568T>G (p.Met523Arg)
c.1502T>G (p.Met501Arg)
c.1667T>G (p.Met556Arg)
c.1721T>G (p.Met574Arg)
2g.98396727G>ACA1794036CNGA3c.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
2g.98396727G>CCA347833803CNGA3c.1557G>C (p.Met519Ile)
c.1569G>C (p.Met523Ile)
c.1503G>C (p.Met501Ile)
c.1668G>C (p.Met556Ile)
c.1722G>C (p.Met574Ile)
2g.98396727G=CA1273420039CNGA3c.1557G= (p.Met519=)
c.1569G= (p.Met523=)
c.1503G= (p.Met501=)
c.1668G= (p.Met556=)
c.1722G= (p.Met574=)
2g.98396727G>TCA347833804CNGA3c.1557G>T (p.Met519Ile)
c.1569G>T (p.Met523Ile)
c.1503G>T (p.Met501Ile)
c.1668G>T (p.Met556Ile)
c.1722G>T (p.Met574Ile)
2g.98396728T>ACA347833805CNGA3c.1558T>A (p.Tyr520Asn)
c.1570T>A (p.Tyr524Asn)
c.1504T>A (p.Tyr502Asn)
c.1669T>A (p.Tyr557Asn)
c.1723T>A (p.Tyr575Asn)
2g.98396728T>CCA347833806CNGA3c.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
2g.98396728T>GCA347833807CNGA3c.1558T>G (p.Tyr520Asp)
c.1570T>G (p.Tyr524Asp)
c.1504T>G (p.Tyr502Asp)
c.1669T>G (p.Tyr557Asp)
c.1723T>G (p.Tyr575Asp)
2g.98396729A>CCA347833808CNGA3c.1559A>C (p.Tyr520Ser)
c.1571A>C (p.Tyr524Ser)
c.1505A>C (p.Tyr502Ser)
c.1670A>C (p.Tyr557Ser)
c.1724A>C (p.Tyr575Ser)
2g.98396729A>GCA347833809CNGA3c.1559A>G (p.Tyr520Cys)
c.1571A>G (p.Tyr524Cys)
c.1505A>G (p.Tyr502Cys)
c.1670A>G (p.Tyr557Cys)
c.1724A>G (p.Tyr575Cys)
2g.98396729A>TCA347833810CNGA3c.1559A>T (p.Tyr520Phe)
c.1571A>T (p.Tyr524Phe)
c.1505A>T (p.Tyr502Phe)
c.1670A>T (p.Tyr557Phe)
c.1724A>T (p.Tyr575Phe)
2g.98396730C>ACA347833811CNGA3c.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
2g.98396730C>GCA347833812CNGA3c.1560C>G (p.Tyr520Ter)
c.1572C>G (p.Tyr524Ter)
c.1506C>G (p.Tyr502Ter)
c.1671C>G (p.Tyr557Ter)
c.1725C>G (p.Tyr575Ter)
2g.98396730C>TCA427820134CNGA3c.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
2g.98396731A>CCA347833813CNGA3c.1561A>C (p.Ile521Leu)
c.1573A>C (p.Ile525Leu)
c.1507A>C (p.Ile503Leu)
c.1672A>C (p.Ile558Leu)
c.1726A>C (p.Ile576Leu)
2g.98396731A>GCA347833814CNGA3c.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
2g.98396731A>TCA347833815CNGA3c.1561A>T (p.Ile521Phe)
c.1573A>T (p.Ile525Phe)
c.1507A>T (p.Ile503Phe)
c.1672A>T (p.Ile558Phe)
c.1726A>T (p.Ile576Phe)
2g.98396732T>ACA347833818CNGA3c.1562T>A (p.Ile521Asn)
c.1574T>A (p.Ile525Asn)
c.1508T>A (p.Ile503Asn)
c.1673T>A (p.Ile558Asn)
c.1727T>A (p.Ile576Asn)
2g.98396732T>CCA347833817CNGA3c.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
2g.98396732T>GCA347833816CNGA3c.1562T>G (p.Ile521Ser)
c.1574T>G (p.Ile525Ser)
c.1508T>G (p.Ile503Ser)
c.1673T>G (p.Ile558Ser)
c.1727T>G (p.Ile576Ser)
2g.98396733C>ACA427820141CNGA3c.1563C>A (p.Ile521=)
c.1575C>A (p.Ile525=)
c.1509C>A (p.Ile503=)
c.1674C>A (p.Ile558=)
c.1728C>A (p.Ile576=)
2g.98396733C>GCA347833819CNGA3c.1563C>G (p.Ile521Met)
c.1575C>G (p.Ile525Met)
c.1509C>G (p.Ile503Met)
c.1674C>G (p.Ile558Met)
c.1728C>G (p.Ile576Met)
2g.98396733C>TCA427820142CNGA3c.1563C>T (p.Ile521=)
c.1575C>T (p.Ile525=)
c.1509C>T (p.Ile503=)
c.1674C>T (p.Ile558=)
c.1728C>T (p.Ile576=)
2g.98396734A=CA1273420040CNGA3c.1564A= (p.Ile522=)
c.1576A= (p.Ile526=)
c.1510A= (p.Ile504=)
c.1675A= (p.Ile559=)
c.1729A= (p.Ile577=)
2g.98396734A>CCA52635844CNGA3c.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
2g.98396734A>GCA347833820CNGA3c.1564A>G (p.Ile522Val)
c.1576A>G (p.Ile526Val)
c.1510A>G (p.Ile504Val)
c.1675A>G (p.Ile559Val)
c.1729A>G (p.Ile577Val)
2g.98396734A>TCA347833821CNGA3c.1564A>T (p.Ile522Phe)
c.1576A>T (p.Ile526Phe)
c.1510A>T (p.Ile504Phe)
c.1675A>T (p.Ile559Phe)
c.1729A>T (p.Ile577Phe)
2g.98396735T>ACA347833822CNGA3c.1565T>A (p.Ile522Asn)
c.1577T>A (p.Ile526Asn)
c.1511T>A (p.Ile504Asn)
c.1676T>A (p.Ile559Asn)
c.1730T>A (p.Ile577Asn)
2g.98396735T>CCA347833823CNGA3c.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
2g.98396735T>GCA347833824CNGA3c.1565T>G (p.Ile522Ser)
c.1577T>G (p.Ile526Ser)
c.1511T>G (p.Ile504Ser)
c.1676T>G (p.Ile559Ser)
c.1730T>G (p.Ile577Ser)
2g.98396736C>ACA427820147CNGA3c.1566C>A (p.Ile522=)
c.1578C>A (p.Ile526=)
c.1512C>A (p.Ile504=)
c.1677C>A (p.Ile559=)
c.1731C>A (p.Ile577=)
2g.98396736C=CA1273420041CNGA3c.1566C= (p.Ile522=)
c.1578C= (p.Ile526=)
c.1512C= (p.Ile504=)
c.1677C= (p.Ile559=)
c.1731C= (p.Ile577=)
2g.98396736C>GCA347833825CNGA3c.1566C>G (p.Ile522Met)
c.1578C>G (p.Ile526Met)
c.1512C>G (p.Ile504Met)
c.1677C>G (p.Ile559Met)
c.1731C>G (p.Ile577Met)
2g.98396736C>TCA1794037CNGA3c.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
2g.98396739_98396747delCA2586969730CNGA3c.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)
2g.98396737A=CA1273420042CNGA3c.1567A= (p.Asn523=)
c.1579A= (p.Asn527=)
c.1513A= (p.Asn505=)
c.1678A= (p.Asn560=)
c.1732A= (p.Asn578=)
2g.98396737A>CCA347833826CNGA3c.1567A>C (p.Asn523His)
c.1579A>C (p.Asn527His)
c.1513A>C (p.Asn505His)
c.1678A>C (p.Asn560His)
c.1732A>C (p.Asn578His)
2g.98396737A>GCA347833827CNGA3c.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
2g.98396737A>TCA347833828CNGA3c.1567A>T (p.Asn523Tyr)
c.1579A>T (p.Asn527Tyr)
c.1513A>T (p.Asn505Tyr)
c.1678A>T (p.Asn560Tyr)
c.1732A>T (p.Asn578Tyr)
2g.98396738A>CCA347833829CNGA3c.1568A>C (p.Asn523Thr)
c.1580A>C (p.Asn527Thr)
c.1514A>C (p.Asn505Thr)
c.1679A>C (p.Asn560Thr)
c.1733A>C (p.Asn578Thr)
2g.98396738A>GCA347833830CNGA3c.1568A>G (p.Asn523Ser)
c.1580A>G (p.Asn527Ser)
c.1514A>G (p.Asn505Ser)
c.1679A>G (p.Asn560Ser)
c.1733A>G (p.Asn578Ser)
2g.98396738A>TCA347833831CNGA3c.1568A>T (p.Asn523Ile)
c.1580A>T (p.Asn527Ile)
c.1514A>T (p.Asn505Ile)
c.1679A>T (p.Asn560Ile)
c.1733A>T (p.Asn578Ile)
2g.98396739C>ACA347833832CNGA3c.1569C>A (p.Asn523Lys)
c.1581C>A (p.Asn527Lys)
c.1515C>A (p.Asn505Lys)
c.1680C>A (p.Asn560Lys)
c.1734C>A (p.Asn578Lys)
2g.98396739C=CA1273420043CNGA3c.1569C= (p.Asn523=)
c.1581C= (p.Asn527=)
c.1515C= (p.Asn505=)
c.1680C= (p.Asn560=)
c.1734C= (p.Asn578=)
2g.98396739C>GCA347833833CNGA3c.1569C>G (p.Asn523Lys)
c.1581C>G (p.Asn527Lys)
c.1515C>G (p.Asn505Lys)
c.1680C>G (p.Asn560Lys)
c.1734C>G (p.Asn578Lys)
2g.98396739C>TCA1794038CNGA3c.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
2g.98396740G>ACA1794039CNGA3c.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
2g.98396740G>CCA52635852CNGA3c.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
2g.98396740G=CA1273420044CNGA3c.1570G= (p.Glu524=)
c.1582G= (p.Glu528=)
c.1516G= (p.Glu506=)
c.1681G= (p.Glu561=)
c.1735G= (p.Glu579=)
2g.98396740G>TCA347833834CNGA3c.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
2g.98396741A>CCA347833835CNGA3c.1571A>C (p.Glu524Ala)
c.1583A>C (p.Glu528Ala)
c.1517A>C (p.Glu506Ala)
c.1682A>C (p.Glu561Ala)
c.1736A>C (p.Glu579Ala)
2g.98396741A>GCA347833836CNGA3c.1571A>G (p.Glu524Gly)
c.1583A>G (p.Glu528Gly)
c.1517A>G (p.Glu506Gly)
c.1682A>G (p.Glu561Gly)
c.1736A>G (p.Glu579Gly)
2g.98396741A>TCA347833837CNGA3c.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
2g.98396742G>ACA427820156CNGA3c.1572G>A (p.Glu524=)
c.1584G>A (p.Glu528=)
c.1518G>A (p.Glu506=)
c.1683G>A (p.Glu561=)
c.1737G>A (p.Glu579=)
2g.98396742G>CCA347833838CNGA3c.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
2g.98396742G>TCA347833839CNGA3c.1572G>T (p.Glu524Asp)
c.1584G>T (p.Glu528Asp)
c.1518G>T (p.Glu506Asp)
c.1683G>T (p.Glu561Asp)
c.1737G>T (p.Glu579Asp)
2g.98396743G>ACA236065CNGA3c.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
2g.98396743G>CCA347833840CNGA3c.1573G>C (p.Gly525Arg)
c.1585G>C (p.Gly529Arg)
c.1519G>C (p.Gly507Arg)
c.1684G>C (p.Gly562Arg)
c.1738G>C (p.Gly580Arg)
2g.98396743G=CA1273420045CNGA3c.1573G= (p.Gly525=)
c.1585G= (p.Gly529=)
c.1519G= (p.Gly507=)
c.1684G= (p.Gly562=)
c.1738G= (p.Gly580=)
2g.98396743G>TCA347833841CNGA3c.1573G>T (p.Gly525Cys)
c.1585G>T (p.Gly529Cys)
c.1519G>T (p.Gly507Cys)
c.1684G>T (p.Gly562Cys)
c.1738G>T (p.Gly580Cys)
2g.98396744G>ACA347833842CNGA3c.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
2g.98396744G>CCA347833844CNGA3c.1574G>C (p.Gly525Ala)
c.1586G>C (p.Gly529Ala)
c.1520G>C (p.Gly507Ala)
c.1685G>C (p.Gly562Ala)
c.1739G>C (p.Gly580Ala)
2g.98396744G>TCA347833843CNGA3c.1574G>T (p.Gly525Val)
c.1586G>T (p.Gly529Val)
c.1520G>T (p.Gly507Val)
c.1685G>T (p.Gly562Val)
c.1739G>T (p.Gly580Val)
2g.98396745C>ACA427820163CNGA3c.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
2g.98396745C>GCA427820166CNGA3c.1575C>G (p.Gly525=)
c.1587C>G (p.Gly529=)
c.1521C>G (p.Gly507=)
c.1686C>G (p.Gly562=)
c.1740C>G (p.Gly580=)
2g.98396745C>TCA427820167CNGA3c.1575C>T (p.Gly525=)
c.1587C>T (p.Gly529=)
c.1521C>T (p.Gly507=)
c.1686C>T (p.Gly562=)
c.1740C>T (p.Gly580=)
2g.98396746A>CCA347833845CNGA3c.1576A>C (p.Lys526Gln)
c.1588A>C (p.Lys530Gln)
c.1522A>C (p.Lys508Gln)
c.1687A>C (p.Lys563Gln)
c.1741A>C (p.Lys581Gln)
2g.98396746A>GCA347833846CNGA3c.1576A>G (p.Lys526Glu)
c.1588A>G (p.Lys530Glu)
c.1522A>G (p.Lys508Glu)
c.1687A>G (p.Lys563Glu)
c.1741A>G (p.Lys581Glu)
2g.98396746A>TCA347833847CNGA3c.1576A>T (p.Lys526Ter)
c.1588A>T (p.Lys530Ter)
c.1522A>T (p.Lys508Ter)
c.1687A>T (p.Lys563Ter)
c.1741A>T (p.Lys581Ter)
2g.98396746_98396747dupCA645516632CNGA3c.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
2g.98396747A=CA1273420046CNGA3c.1577A= (p.Lys526=)
c.1589A= (p.Lys530=)
c.1523A= (p.Lys508=)
c.1688A= (p.Lys563=)
c.1742A= (p.Lys581=)
2g.98396747A>CCA347833848CNGA3c.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
2g.98396747A>GCA347833849CNGA3c.1577A>G (p.Lys526Arg)
c.1589A>G (p.Lys530Arg)
c.1523A>G (p.Lys508Arg)
c.1688A>G (p.Lys563Arg)
c.1742A>G (p.Lys581Arg)
2g.98396747A>TCA1794040CNGA3c.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
2g.98396748G>ACA427820176CNGA3c.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
2g.98396748G>CCA1794041CNGA3c.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
2g.98396748G=CA1273420047CNGA3c.1578G= (p.Lys526=)
c.1590G= (p.Lys530=)
c.1524G= (p.Lys508=)
c.1689G= (p.Lys563=)
c.1743G= (p.Lys581=)
2g.98396748G>TCA347833850CNGA3c.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
2g.98396749C>ACA347833851CNGA3c.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
2g.98396749C=CA1273420048CNGA3c.1579C= (p.Leu527=)
c.1591C= (p.Leu531=)
c.1525C= (p.Leu509=)
c.1690C= (p.Leu564=)
c.1744C= (p.Leu582=)
2g.98396749C>GCA347833852CNGA3c.1579C>G (p.Leu527Val)
c.1591C>G (p.Leu531Val)
c.1525C>G (p.Leu509Val)
c.1690C>G (p.Leu564Val)
c.1744C>G (p.Leu582Val)
2g.98396749C>TCA1794042CNGA3c.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
2g.98396750T>ACA347833854CNGA3c.1580T>A (p.Leu527Gln)
c.1592T>A (p.Leu531Gln)
c.1526T>A (p.Leu509Gln)
c.1691T>A (p.Leu564Gln)
c.1745T>A (p.Leu582Gln)
2g.98396750T>CCA347833853CNGA3c.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
2g.98396750T>GCA1794043CNGA3c.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
2g.98396750T=CA1273420049CNGA3c.1580T= (p.Leu527=)
c.1592T= (p.Leu531=)
c.1526T= (p.Leu509=)
c.1691T= (p.Leu564=)
c.1745T= (p.Leu582=)
2g.98396751G>ACA427820183CNGA3c.1581G>A (p.Leu527=)
c.1593G>A (p.Leu531=)
c.1527G>A (p.Leu509=)
c.1692G>A (p.Leu564=)
c.1746G>A (p.Leu582=)
2g.98396751G>CCA427820184CNGA3c.1581G>C (p.Leu527=)
c.1593G>C (p.Leu531=)
c.1527G>C (p.Leu509=)
c.1692G>C (p.Leu564=)
c.1746G>C (p.Leu582=)
2g.98396751G>TCA427820185CNGA3c.1581G>T (p.Leu527=)
c.1593G>T (p.Leu531=)
c.1527G>T (p.Leu509=)
c.1692G>T (p.Leu564=)
c.1746G>T (p.Leu582=)
2g.98396752G>ACA347833855CNGA3c.1582G>A (p.Ala528Thr)
c.1594G>A (p.Ala532Thr)
c.1528G>A (p.Ala510Thr)
c.1693G>A (p.Ala565Thr)
c.1747G>A (p.Ala583Thr)
2g.98396752G>CCA347833856CNGA3c.1582G>C (p.Ala528Pro)
c.1594G>C (p.Ala532Pro)
c.1528G>C (p.Ala510Pro)
c.1693G>C (p.Ala565Pro)
c.1747G>C (p.Ala583Pro)
2g.98396752G>TCA347833857CNGA3c.1582G>T (p.Ala528Ser)
c.1594G>T (p.Ala532Ser)
c.1528G>T (p.Ala510Ser)
c.1693G>T (p.Ala565Ser)
c.1747G>T (p.Ala583Ser)
2g.98396753C>ACA347833858CNGA3c.1583C>A (p.Ala528Asp)
c.1595C>A (p.Ala532Asp)
c.1529C>A (p.Ala510Asp)
c.1694C>A (p.Ala565Asp)
c.1748C>A (p.Ala583Asp)
2g.98396753C>GCA347833859CNGA3c.1583C>G (p.Ala528Gly)
c.1595C>G (p.Ala532Gly)
c.1529C>G (p.Ala510Gly)
c.1694C>G (p.Ala565Gly)
c.1748C>G (p.Ala583Gly)
2g.98396753C>TCA347833860CNGA3c.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
2g.98396754C>ACA427820191CNGA3c.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
2g.98396754C=CA1273420050CNGA3c.1584C= (p.Ala528=)
c.1596C= (p.Ala532=)
c.1530C= (p.Ala510=)
c.1695C= (p.Ala565=)
c.1749C= (p.Ala583=)
2g.98396754C>GCA427820193CNGA3c.1584C>G (p.Ala528=)
c.1596C>G (p.Ala532=)
c.1530C>G (p.Ala510=)
c.1695C>G (p.Ala565=)
c.1749C>G (p.Ala583=)
2g.98396754C>TCA1794044CNGA3c.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
2g.98396755G>ACA254826CNGA3c.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
2g.98396755G>CCA347833861CNGA3c.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
2g.98396755G=CA1273420051CNGA3c.1585G= (p.Val529=)
c.1597G= (p.Val533=)
c.1531G= (p.Val511=)
c.1696G= (p.Val566=)
c.1750G= (p.Val584=)
2g.98396755G>TCA347833862CNGA3c.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
2g.98396756T>ACA347833863CNGA3c.1586T>A (p.Val529Glu)
c.1598T>A (p.Val533Glu)
c.1532T>A (p.Val511Glu)
c.1697T>A (p.Val566Glu)
c.1751T>A (p.Val584Glu)
2g.98396756T>CCA52635874CNGA3c.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
2g.98396756T>GCA347833864CNGA3c.1586T>G (p.Val529Gly)
c.1598T>G (p.Val533Gly)
c.1532T>G (p.Val511Gly)
c.1697T>G (p.Val566Gly)
c.1751T>G (p.Val584Gly)
2g.98396756T=CA1273420052CNGA3c.1586T= (p.Val529=)
c.1598T= (p.Val533=)
c.1532T= (p.Val511=)
c.1697T= (p.Val566=)
c.1751T= (p.Val584=)
2g.98396757G>ACA427820195CNGA3c.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
2g.98396757G>CCA427820197CNGA3c.1587G>C (p.Val529=)
c.1599G>C (p.Val533=)
c.1533G>C (p.Val511=)
c.1698G>C (p.Val566=)
c.1752G>C (p.Val584=)
2g.98396757G>TCA427820198CNGA3c.1587G>T (p.Val529=)
c.1599G>T (p.Val533=)
c.1533G>T (p.Val511=)
c.1698G>T (p.Val566=)
c.1752G>T (p.Val584=)
2g.98396758G>ACA347833866CNGA3c.1588G>A (p.Val530Met)
c.1600G>A (p.Val534Met)
c.1534G>A (p.Val512Met)
c.1699G>A (p.Val567Met)
c.1753G>A (p.Val585Met)
2g.98396758G>CCA347833867CNGA3c.1588G>C (p.Val530Leu)
c.1600G>C (p.Val534Leu)
c.1534G>C (p.Val512Leu)
c.1699G>C (p.Val567Leu)
c.1753G>C (p.Val585Leu)
2g.98396758G=CA1273420053CNGA3c.1588G= (p.Val530=)
c.1600G= (p.Val534=)
c.1534G= (p.Val512=)
c.1699G= (p.Val567=)
c.1753G= (p.Val585=)
2g.98396758G>TCA347833865CNGA3c.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
2g.98396759T>ACA347833869CNGA3c.1589T>A (p.Val530Glu)
c.1601T>A (p.Val534Glu)
c.1535T>A (p.Val512Glu)
c.1700T>A (p.Val567Glu)
c.1754T>A (p.Val585Glu)
2g.98396759T>CCA347833868CNGA3c.1589T>C (p.Val530Ala)
c.1601T>C (p.Val534Ala)
c.1535T>C (p.Val512Ala)
c.1700T>C (p.Val567Ala)
c.1754T>C (p.Val585Ala)
2g.98396759T>GCA347833870CNGA3c.1589T>G (p.Val530Gly)
c.1601T>G (p.Val534Gly)
c.1535T>G (p.Val512Gly)
c.1700T>G (p.Val567Gly)
c.1754T>G (p.Val585Gly)
2g.98396760G>ACA427820204CNGA3c.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
2g.98396760G>CCA427820207CNGA3c.1590G>C (p.Val530=)
c.1602G>C (p.Val534=)
c.1536G>C (p.Val512=)
c.1701G>C (p.Val567=)
c.1755G>C (p.Val585=)
2g.98396760G=CA1273420054CNGA3c.1590G= (p.Val530=)
c.1602G= (p.Val534=)
c.1536G= (p.Val512=)
c.1701G= (p.Val567=)
c.1755G= (p.Val585=)
2g.98396760G>TCA427820208CNGA3c.1590G>T (p.Val530=)
c.1602G>T (p.Val534=)
c.1536G>T (p.Val512=)
c.1701G>T (p.Val567=)
c.1755G>T (p.Val585=)
2g.98396761G>ACA347833871CNGA3c.1591G>A (p.Ala531Thr)
c.1603G>A (p.Ala535Thr)
c.1537G>A (p.Ala513Thr)
c.1702G>A (p.Ala568Thr)
c.1756G>A (p.Ala586Thr)
2g.98396761G>CCA347833872CNGA3c.1591G>C (p.Ala531Pro)
c.1603G>C (p.Ala535Pro)
c.1537G>C (p.Ala513Pro)
c.1702G>C (p.Ala568Pro)
c.1756G>C (p.Ala586Pro)
2g.98396761G>TCA347833873CNGA3c.1591G>T (p.Ala531Ser)
c.1603G>T (p.Ala535Ser)
c.1537G>T (p.Ala513Ser)
c.1702G>T (p.Ala568Ser)
c.1756G>T (p.Ala586Ser)
2g.98396762C>ACA347833874CNGA3c.1592C>A (p.Ala531Asp)
c.1604C>A (p.Ala535Asp)
c.1538C>A (p.Ala513Asp)
c.1703C>A (p.Ala568Asp)
c.1757C>A (p.Ala586Asp)
2g.98396762C=CA1273420055CNGA3c.1592C= (p.Ala531=)
c.1604C= (p.Ala535=)
c.1538C= (p.Ala513=)
c.1703C= (p.Ala568=)
c.1757C= (p.Ala586=)
2g.98396762C>GCA347833875CNGA3c.1592C>G (p.Ala531Gly)
c.1604C>G (p.Ala535Gly)
c.1538C>G (p.Ala513Gly)
c.1703C>G (p.Ala568Gly)
c.1757C>G (p.Ala586Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.98396762C>TCA347833876CNGA3c.1592C>T (p.Ala531Val)
c.1604C>T (p.Ala535Val)
c.1538C>T (p.Ala513Val)
c.1703C>T (p.Ala568Val)
c.1757C>T (p.Ala586Val)
2g.98396763T>ACA427820213CNGA3c.1593T>A (p.Ala531=)
c.1605T>A (p.Ala535=)
c.1539T>A (p.Ala513=)
c.1704T>A (p.Ala568=)
c.1758T>A (p.Ala586=)
 COSMIC
2g.98396763T>CCA52635877CNGA3c.1593T>C (p.Ala531=)
c.1605T>C (p.Ala535=)
c.1539T>C (p.Ala513=)
c.1704T>C (p.Ala568=)
c.1758T>C (p.Ala586=)
 dbSNP gnomAD v4
2g.98396763T>GCA427820215CNGA3c.1593T>G (p.Ala531=)
c.1605T>G (p.Ala535=)
c.1539T>G (p.Ala513=)
c.1704T>G (p.Ala568=)
c.1758T>G (p.Ala586=)
2g.98396763T=CA1273420056CNGA3c.1593T= (p.Ala531=)
c.1605T= (p.Ala535=)
c.1539T= (p.Ala513=)
c.1704T= (p.Ala568=)
c.1758T= (p.Ala586=)
2g.98396764G>ACA347833877CNGA3c.1594G>A (p.Asp532Asn)
c.1606G>A (p.Asp536Asn)
c.1540G>A (p.Asp514Asn)
c.1705G>A (p.Asp569Asn)
c.1759G>A (p.Asp587Asn)
 gnomAD v4 COSMIC
2g.98396764G>CCA347833878CNGA3c.1594G>C (p.Asp532His)
c.1606G>C (p.Asp536His)
c.1540G>C (p.Asp514His)
c.1705G>C (p.Asp569His)
c.1759G>C (p.Asp587His)
2g.98396764G>TCA347833879CNGA3c.1594G>T (p.Asp532Tyr)
c.1606G>T (p.Asp536Tyr)
c.1540G>T (p.Asp514Tyr)
c.1705G>T (p.Asp569Tyr)
c.1759G>T (p.Asp587Tyr)
2g.98396765A=CA1273420057CNGA3c.1595A= (p.Asp532=)
c.1607A= (p.Asp536=)
c.1541A= (p.Asp514=)
c.1706A= (p.Asp569=)
c.1760A= (p.Asp587=)
2g.98396765A>CCA347833880CNGA3c.1595A>C (p.Asp532Ala)
c.1607A>C (p.Asp536Ala)
c.1541A>C (p.Asp514Ala)
c.1706A>C (p.Asp569Ala)
c.1760A>C (p.Asp587Ala)
2g.98396765A>GCA347833881CNGA3c.1595A>G (p.Asp532Gly)
c.1607A>G (p.Asp536Gly)
c.1541A>G (p.Asp514Gly)
c.1706A>G (p.Asp569Gly)
c.1760A>G (p.Asp587Gly)
2g.98396765A>TCA347833882CNGA3c.1595A>T (p.Asp532Val)
c.1607A>T (p.Asp536Val)
c.1541A>T (p.Asp514Val)
c.1706A>T (p.Asp569Val)
c.1760A>T (p.Asp587Val)
 ClinVar dbSNP gnomAD v4
2g.98396766T>ACA347833883CNGA3c.1596T>A (p.Asp532Glu)
c.1608T>A (p.Asp536Glu)
c.1542T>A (p.Asp514Glu)
c.1707T>A (p.Asp569Glu)
c.1761T>A (p.Asp587Glu)
2g.98396766T>CCA427820219CNGA3c.1596T>C (p.Asp532=)
c.1608T>C (p.Asp536=)
c.1542T>C (p.Asp514=)
c.1707T>C (p.Asp569=)
c.1761T>C (p.Asp587=)
 ClinVar
2g.98396766T>GCA347833884CNGA3c.1596T>G (p.Asp532Glu)
c.1608T>G (p.Asp536Glu)
c.1542T>G (p.Asp514Glu)
c.1707T>G (p.Asp569Glu)
c.1761T>G (p.Asp587Glu)

Number of alleles fetched