Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.53207698T>ACA402518094DCCc.1742T>A (p.Leu581Gln)
c.1543T>A
c.1673T>A (p.Leu558Gln)
c.707T>A (p.Leu236Gln)
18g.53207698T>CCA402518095DCCc.1742T>C (p.Leu581Pro)
c.1543T>C
c.1673T>C (p.Leu558Pro)
c.707T>C (p.Leu236Pro)
18g.53207698T>GCA402518096DCCc.1742T>G (p.Leu581Arg)
c.1543T>G
c.1673T>G (p.Leu558Arg)
c.707T>G (p.Leu236Arg)
18g.53207699A=CA2304037473DCCc.1743A= (p.Leu581=)
c.1544A=
c.1674A= (p.Leu558=)
c.708A= (p.Leu236=)
18g.53207699A>CCA503971847DCCc.1743A>C (p.Leu581=)
c.1544A>C
c.1674A>C (p.Leu558=)
c.708A>C (p.Leu236=)
18g.53207699A>GCA8966977DCCc.1743A>G (p.Leu581=)
c.1544A>G
c.1674A>G (p.Leu558=)
c.708A>G (p.Leu236=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207699A>TCA503971848DCCc.1743A>T (p.Leu581=)
c.1544A>T
c.1674A>T (p.Leu558=)
c.708A>T (p.Leu236=)
18g.53207700T>ACA402518097DCCc.1744T>A (p.Ser582Thr)
c.1545T>A
c.1675T>A (p.Ser559Thr)
c.709T>A (p.Ser237Thr)
18g.53207700T>CCA300765514DCCc.1744T>C (p.Ser582Pro)
c.1545T>C
c.1675T>C (p.Ser559Pro)
c.709T>C (p.Ser237Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207700T>GCA402518098DCCc.1744T>G (p.Ser582Ala)
c.1545T>G
c.1675T>G (p.Ser559Ala)
c.709T>G (p.Ser237Ala)
 gnomAD v4
18g.53207700T=CA2304037475DCCc.1744T= (p.Ser582=)
c.1545T=
c.1675T= (p.Ser559=)
c.709T= (p.Ser237=)
18g.53207701C>ACA402518099DCCc.1745C>A (p.Ser582Tyr)
c.1546C>A
c.1676C>A (p.Ser559Tyr)
c.710C>A (p.Ser237Tyr)
18g.53207701C=CA2304037480DCCc.1745C= (p.Ser582=)
c.1546C=
c.1676C= (p.Ser559=)
c.710C= (p.Ser237=)
18g.53207701C>GCA402518100DCCc.1745C>G (p.Ser582Cys)
c.1546C>G
c.1676C>G (p.Ser559Cys)
c.710C>G (p.Ser237Cys)
18g.53207701C>TCA402518101DCCc.1745C>T (p.Ser582Phe)
c.1546C>T
c.1676C>T (p.Ser559Phe)
c.710C>T (p.Ser237Phe)
 dbSNP gnomAD v4 COSMIC COSMIC
18g.53207702T>ACA503971849DCCc.1746T>A (p.Ser582=)
c.1547T>A
c.1677T>A (p.Ser559=)
c.711T>A (p.Ser237=)
18g.53207702T>CCA503971851DCCc.1746T>C (p.Ser582=)
c.1547T>C
c.1677T>C (p.Ser559=)
c.711T>C (p.Ser237=)
18g.53207702T>GCA503971850DCCc.1746T>G (p.Ser582=)
c.1547T>G
c.1677T>G (p.Ser559=)
c.711T>G (p.Ser237=)
18g.53207703T>ACA402518102DCCc.1747T>A (p.Tyr583Asn)
c.1548T>A
c.1678T>A (p.Tyr560Asn)
c.712T>A (p.Tyr238Asn)
18g.53207703T>CCA402518103DCCc.1747T>C (p.Tyr583His)
c.1548T>C
c.1678T>C (p.Tyr560His)
c.712T>C (p.Tyr238His)
 gnomAD v4
18g.53207703T>GCA402518104DCCc.1747T>G (p.Tyr583Asp)
c.1548T>G
c.1678T>G (p.Tyr560Asp)
c.712T>G (p.Tyr238Asp)
18g.53207704A=CA2304037484DCCc.1748A= (p.Tyr583=)
c.1549A=
c.1679A= (p.Tyr560=)
c.713A= (p.Tyr238=)
18g.53207704A>CCA402518105DCCc.1748A>C (p.Tyr583Ser)
c.1549A>C
c.1679A>C (p.Tyr560Ser)
c.713A>C (p.Tyr238Ser)
18g.53207704A>GCA300765515DCCc.1748A>G (p.Tyr583Cys)
c.1549A>G
c.1679A>G (p.Tyr560Cys)
c.713A>G (p.Tyr238Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207704A>TCA402518106DCCc.1748A>T (p.Tyr583Phe)
c.1549A>T
c.1679A>T (p.Tyr560Phe)
c.713A>T (p.Tyr238Phe)
18g.53207705T>ACA402518107DCCc.1749T>A (p.Tyr583Ter)
c.1550T>A
c.1680T>A (p.Tyr560Ter)
c.714T>A (p.Tyr238Ter)
18g.53207705T>CCA503971852DCCc.1749T>C (p.Tyr583=)
c.1550T>C
c.1680T>C (p.Tyr560=)
c.714T>C (p.Tyr238=)
 dbSNP gnomAD v4
18g.53207705T>GCA402518108DCCc.1749T>G (p.Tyr583Ter)
c.1550T>G
c.1680T>G (p.Tyr560Ter)
c.714T>G (p.Tyr238Ter)
18g.53207705T=CA2304037485DCCc.1749T= (p.Tyr583=)
c.1550T=
c.1680T= (p.Tyr560=)
c.714T= (p.Tyr238=)
18g.53207706A>CCA402518110DCCc.1750A>C (p.Lys584Gln)
c.1551A>C
c.1681A>C (p.Lys561Gln)
c.715A>C (p.Lys239Gln)
18g.53207706A>GCA402518111DCCc.1750A>G (p.Lys584Glu)
c.1551A>G
c.1681A>G (p.Lys561Glu)
c.715A>G (p.Lys239Glu)
 gnomAD v4 COSMIC COSMIC
18g.53207706A>TCA402518109DCCc.1750A>T (p.Lys584Ter)
c.1551A>T
c.1681A>T (p.Lys561Ter)
c.715A>T (p.Lys239Ter)
18g.53207707A=CA2304037486DCCc.1751A= (p.Lys584=)
c.1552A=
c.1682A= (p.Lys561=)
c.716A= (p.Lys239=)
18g.53207707A>CCA300765516DCCc.1751A>C (p.Lys584Thr)
c.1552A>C
c.1682A>C (p.Lys561Thr)
c.716A>C (p.Lys239Thr)
 dbSNP gnomAD v3 gnomAD v4
18g.53207707A>GCA402518112DCCc.1751A>G (p.Lys584Arg)
c.1552A>G
c.1682A>G (p.Lys561Arg)
c.716A>G (p.Lys239Arg)
18g.53207707A>TCA402518113DCCc.1751A>T (p.Lys584Ile)
c.1552A>T
c.1682A>T (p.Lys561Ile)
c.716A>T (p.Lys239Ile)
18g.53207708A>CCA402518114DCCc.1752A>C (p.Lys584Asn)
c.1553A>C
c.1683A>C (p.Lys561Asn)
c.717A>C (p.Lys239Asn)
18g.53207708A>GCA503971853DCCc.1752A>G (p.Lys584=)
c.1553A>G
c.1683A>G (p.Lys561=)
c.717A>G (p.Lys239=)
18g.53207708A>TCA402518115DCCc.1752A>T (p.Lys584Asn)
c.1553A>T
c.1683A>T (p.Lys561Asn)
c.717A>T (p.Lys239Asn)
18g.53207709C>ACA402518116DCCc.1753C>A (p.Leu585Met)
c.1554C>A
c.1684C>A (p.Leu562Met)
c.718C>A (p.Leu240Met)
 gnomAD v4
18g.53207709C>GCA402518117DCCc.1753C>G (p.Leu585Val)
c.1554C>G
c.1684C>G (p.Leu562Val)
c.718C>G (p.Leu240Val)
18g.53207709C>TCA503971854DCCc.1753C>T (p.Leu585=)
c.1554C>T
c.1684C>T (p.Leu562=)
c.718C>T (p.Leu240=)
 gnomAD v4
18g.53207710T>ACA402518118DCCc.1754T>A (p.Leu585Gln)
c.1555T>A
c.1685T>A (p.Leu562Gln)
c.719T>A (p.Leu240Gln)
18g.53207710T>CCA402518119DCCc.1754T>C (p.Leu585Pro)
c.1555T>C
c.1685T>C (p.Leu562Pro)
c.719T>C (p.Leu240Pro)
18g.53207710T>GCA402518120DCCc.1754T>G (p.Leu585Arg)
c.1555T>G
c.1685T>G (p.Leu562Arg)
c.719T>G (p.Leu240Arg)
18g.53207711G>ACA503971855DCCc.1755G>A (p.Leu585=)
c.1556G>A
c.1686G>A (p.Leu562=)
c.720G>A (p.Leu240=)
 dbSNP gnomAD v4
18g.53207711G>CCA503971856DCCc.1755G>C (p.Leu585=)
c.1556G>C
c.1686G>C (p.Leu562=)
c.720G>C (p.Leu240=)
18g.53207711G=CA2304037489DCCc.1755G= (p.Leu585=)
c.1556G=
c.1686G= (p.Leu562=)
c.720G= (p.Leu240=)
18g.53207711G>TCA503971857DCCc.1755G>T (p.Leu585=)
c.1556G>T
c.1686G>T (p.Leu562=)
c.720G>T (p.Leu240=)
18g.53207712G>ACA402518121DCCc.1756G>A (p.Glu586Lys)
c.1557G>A
c.1687G>A (p.Glu563Lys)
c.721G>A (p.Glu241Lys)
 COSMIC COSMIC
18g.53207712G>CCA402518122DCCc.1756G>C (p.Glu586Gln)
c.1557G>C
c.1687G>C (p.Glu563Gln)
c.721G>C (p.Glu241Gln)
 dbSNP gnomAD v4
18g.53207712G>TCA402518123DCCc.1756G>T (p.Glu586Ter)
c.1557G>T
c.1687G>T (p.Glu563Ter)
c.721G>T (p.Glu241Ter)
18g.53207713A>CCA402518126DCCc.1757A>C (p.Glu586Ala)
c.1558A>C
c.1688A>C (p.Glu563Ala)
c.722A>C (p.Glu241Ala)
18g.53207713A>GCA402518125DCCc.1757A>G (p.Glu586Gly)
c.1558A>G
c.1688A>G (p.Glu563Gly)
c.722A>G (p.Glu241Gly)
18g.53207713A>TCA402518124DCCc.1757A>T (p.Glu586Val)
c.1558A>T
c.1688A>T (p.Glu563Val)
c.722A>T (p.Glu241Val)
18g.53207714A=CA2304037491DCCc.1758A= (p.Glu586=)
c.1559A=
c.1689A= (p.Glu563=)
c.723A= (p.Glu241=)
18g.53207714A>CCA402518127DCCc.1758A>C (p.Glu586Asp)
c.1559A>C
c.1689A>C (p.Glu563Asp)
c.723A>C (p.Glu241Asp)
18g.53207714A>GCA503971858DCCc.1758A>G (p.Glu586=)
c.1559A>G
c.1689A>G (p.Glu563=)
c.723A>G (p.Glu241=)
 dbSNP
18g.53207714A>TCA402518128DCCc.1758A>T (p.Glu586Asp)
c.1559A>T
c.1689A>T (p.Glu563Asp)
c.723A>T (p.Glu241Asp)
18g.53207715G>ACA402518129DCCc.1759G>A (p.Gly587Ser)
c.1560G>A
c.1690G>A (p.Gly564Ser)
c.724G>A (p.Gly242Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207715G>CCA8966978DCCc.1759G>C (p.Gly587Arg)
c.1560G>C
c.1690G>C (p.Gly564Arg)
c.724G>C (p.Gly242Arg)
 dbSNP ExAC gnomAD v2
18g.53207715G=CA2304037492DCCc.1759G= (p.Gly587=)
c.1560G=
c.1690G= (p.Gly564=)
c.724G= (p.Gly242=)
18g.53207715G>TCA402518130DCCc.1759G>T (p.Gly587Cys)
c.1560G>T
c.1690G>T (p.Gly564Cys)
c.724G>T (p.Gly242Cys)
18g.53207716G>ACA402518131DCCc.1760G>A (p.Gly587Asp)
c.1561G>A
c.1691G>A (p.Gly564Asp)
c.725G>A (p.Gly242Asp)
 dbSNP
18g.53207716G>CCA402518132DCCc.1760G>C (p.Gly587Ala)
c.1561G>C
c.1691G>C (p.Gly564Ala)
c.725G>C (p.Gly242Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.53207716G=CA2304037493DCCc.1760G= (p.Gly587=)
c.1561G=
c.1691G= (p.Gly564=)
c.725G= (p.Gly242=)
18g.53207716G>TCA8966979DCCc.1760G>T (p.Gly587Val)
c.1561G>T
c.1691G>T (p.Gly564Val)
c.725G>T (p.Gly242Val)
 dbSNP ExAC gnomAD v2
18g.53207717C>ACA503971861DCCc.1761C>A (p.Gly587=)
c.1562C>A
c.1692C>A (p.Gly564=)
c.726C>A (p.Gly242=)
18g.53207717C>GCA503971859DCCc.1761C>G (p.Gly587=)
c.1562C>G
c.1692C>G (p.Gly564=)
c.726C>G (p.Gly242=)
18g.53207717C>TCA503971860DCCc.1761C>T (p.Gly587=)
c.1562C>T
c.1692C>T (p.Gly564=)
c.726C>T (p.Gly242=)
 gnomAD v4
18g.53207718C>ACA402518133DCCc.1762C>A (p.Leu588Met)
c.1563C>A
c.1693C>A (p.Leu565Met)
c.727C>A (p.Leu243Met)
18g.53207718C>GCA402518134DCCc.1762C>G (p.Leu588Val)
c.1563C>G
c.1693C>G (p.Leu565Val)
c.727C>G (p.Leu243Val)
18g.53207718C>TCA503971862DCCc.1762C>T (p.Leu588=)
c.1563C>T
c.1693C>T (p.Leu565=)
c.727C>T (p.Leu243=)
18g.53207719T>ACA402518135DCCc.1763T>A (p.Leu588Gln)
c.1564T>A
c.1694T>A (p.Leu565Gln)
c.728T>A (p.Leu243Gln)
18g.53207719T>CCA402518136DCCc.1763T>C (p.Leu588Pro)
c.1564T>C
c.1694T>C (p.Leu565Pro)
c.728T>C (p.Leu243Pro)
 COSMIC COSMIC
18g.53207719T>GCA402518137DCCc.1763T>G (p.Leu588Arg)
c.1564T>G
c.1694T>G (p.Leu565Arg)
c.728T>G (p.Leu243Arg)
18g.53207720G>ACA503971863DCCc.1764G>A (p.Leu588=)
c.1565G>A
c.1695G>A (p.Leu565=)
c.729G>A (p.Leu243=)
 COSMIC COSMIC
18g.53207720G>CCA503971864DCCc.1764G>C (p.Leu588=)
c.1565G>C
c.1695G>C (p.Leu565=)
c.729G>C (p.Leu243=)
 dbSNP
18g.53207720G>TCA503971865DCCc.1764G>T (p.Leu588=)
c.1565G>T
c.1695G>T (p.Leu565=)
c.729G>T (p.Leu243=)
18g.53207721A>CCA402518140DCCc.1765A>C (p.Lys589Gln)
c.1566A>C
c.1696A>C (p.Lys566Gln)
c.730A>C (p.Lys244Gln)
18g.53207721A>GCA402518139DCCc.1765A>G (p.Lys589Glu)
c.1566A>G
c.1696A>G (p.Lys566Glu)
c.730A>G (p.Lys244Glu)
 gnomAD v4
18g.53207721A>TCA402518138DCCc.1765A>T (p.Lys589Ter)
c.1566A>T
c.1696A>T (p.Lys566Ter)
c.730A>T (p.Lys244Ter)
18g.53207726delCA2735223461DCCc.1770del (p.Lys590AsnfsTer10)
c.1571del
c.1701del (p.Lys567AsnfsTer10)
c.735del (p.Lys245AsnfsTer10)
 dbSNP
18g.53207722A>CCA402518141DCCc.1766A>C (p.Lys589Thr)
c.1567A>C
c.1697A>C (p.Lys566Thr)
c.731A>C (p.Lys244Thr)
18g.53207722A>GCA402518143DCCc.1766A>G (p.Lys589Arg)
c.1567A>G
c.1697A>G (p.Lys566Arg)
c.731A>G (p.Lys244Arg)
18g.53207722A>TCA402518142DCCc.1766A>T (p.Lys589Ile)
c.1567A>T
c.1697A>T (p.Lys566Ile)
c.731A>T (p.Lys244Ile)
 gnomAD v4
18g.53207723A>CCA402518144DCCc.1767A>C (p.Lys589Asn)
c.1568A>C
c.1698A>C (p.Lys566Asn)
c.732A>C (p.Lys244Asn)
 COSMIC COSMIC
18g.53207723A>GCA503971866DCCc.1767A>G (p.Lys589=)
c.1568A>G
c.1698A>G (p.Lys566=)
c.732A>G (p.Lys244=)
18g.53207723A>TCA402518145DCCc.1767A>T (p.Lys589Asn)
c.1568A>T
c.1698A>T (p.Lys566Asn)
c.732A>T (p.Lys244Asn)
18g.53207724A>CCA402518146DCCc.1768A>C (p.Lys590Gln)
c.1569A>C
c.1699A>C (p.Lys567Gln)
c.733A>C (p.Lys245Gln)
18g.53207724A>GCA402518147DCCc.1768A>G (p.Lys590Glu)
c.1569A>G
c.1699A>G (p.Lys567Glu)
c.733A>G (p.Lys245Glu)
18g.53207724A>TCA402518148DCCc.1768A>T (p.Lys590Ter)
c.1569A>T
c.1699A>T (p.Lys567Ter)
c.733A>T (p.Lys245Ter)
18g.53207725A>CCA402518149DCCc.1769A>C (p.Lys590Thr)
c.1570A>C
c.1700A>C (p.Lys567Thr)
c.734A>C (p.Lys245Thr)
18g.53207725A>GCA402518150DCCc.1769A>G (p.Lys590Arg)
c.1570A>G
c.1700A>G (p.Lys567Arg)
c.734A>G (p.Lys245Arg)
18g.53207725A>TCA402518151DCCc.1769A>T (p.Lys590Ile)
c.1570A>T
c.1700A>T (p.Lys567Ile)
c.734A>T (p.Lys245Ile)
 COSMIC COSMIC
18g.53207726A=CA2304037494DCCc.1770A= (p.Lys590=)
c.1571A=
c.1701A= (p.Lys567=)
c.735A= (p.Lys245=)
18g.53207726A>CCA402518152DCCc.1770A>C (p.Lys590Asn)
c.1571A>C
c.1701A>C (p.Lys567Asn)
c.735A>C (p.Lys245Asn)
18g.53207726A>GCA503971867DCCc.1770A>G (p.Lys590=)
c.1571A>G
c.1701A>G (p.Lys567=)
c.735A>G (p.Lys245=)
 dbSNP gnomAD v2 gnomAD v4
18g.53207726A>TCA402518153DCCc.1770A>T (p.Lys590Asn)
c.1571A>T
c.1701A>T (p.Lys567Asn)
c.735A>T (p.Lys245Asn)
18g.53207727T>ACA402518154DCCc.1771T>A (p.Phe591Ile)
c.1572T>A
c.1702T>A (p.Phe568Ile)
c.736T>A (p.Phe246Ile)
18g.53207727T>CCA402518155DCCc.1771T>C (p.Phe591Leu)
c.1572T>C
c.1702T>C (p.Phe568Leu)
c.736T>C (p.Phe246Leu)
18g.53207727T>GCA402518156DCCc.1771T>G (p.Phe591Val)
c.1572T>G
c.1702T>G (p.Phe568Val)
c.736T>G (p.Phe246Val)
18g.53207728T>ACA402518159DCCc.1772T>A (p.Phe591Tyr)
c.1573T>A
c.1703T>A (p.Phe568Tyr)
c.737T>A (p.Phe246Tyr)
18g.53207728T>CCA402518157DCCc.1772T>C (p.Phe591Ser)
c.1573T>C
c.1703T>C (p.Phe568Ser)
c.737T>C (p.Phe246Ser)
18g.53207728T>GCA402518158DCCc.1772T>G (p.Phe591Cys)
c.1573T>G
c.1703T>G (p.Phe568Cys)
c.737T>G (p.Phe246Cys)
18g.53207729C>ACA402518160DCCc.1773C>A (p.Phe591Leu)
c.1574C>A
c.1704C>A (p.Phe568Leu)
c.738C>A (p.Phe246Leu)
18g.53207729C>GCA402518161DCCc.1773C>G (p.Phe591Leu)
c.1574C>G
c.1704C>G (p.Phe568Leu)
c.738C>G (p.Phe246Leu)
18g.53207729C>TCA503971868DCCc.1773C>T (p.Phe591=)
c.1574C>T
c.1704C>T (p.Phe568=)
c.738C>T (p.Phe246=)
18g.53207730A=CA2304037497DCCc.1774A= (p.Thr592=)
c.1575A=
c.1705A= (p.Thr569=)
c.739A= (p.Thr247=)
18g.53207730A>CCA402518162DCCc.1774A>C (p.Thr592Pro)
c.1575A>C
c.1705A>C (p.Thr569Pro)
c.739A>C (p.Thr247Pro)
18g.53207730A>GCA8966980DCCc.1774A>G (p.Thr592Ala)
c.1575A>G
c.1705A>G (p.Thr569Ala)
c.739A>G (p.Thr247Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207730A>TCA8966981DCCc.1774A>T (p.Thr592Ser)
c.1575A>T
c.1705A>T (p.Thr569Ser)
c.739A>T (p.Thr247Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207731C>ACA402518163DCCc.1775C>A (p.Thr592Asn)
c.1576C>A
c.1706C>A (p.Thr569Asn)
c.740C>A (p.Thr247Asn)
18g.53207731C=CA2304037498DCCc.1775C= (p.Thr592=)
c.1576C=
c.1706C= (p.Thr569=)
c.740C= (p.Thr247=)
18g.53207731C>GCA402518164DCCc.1775C>G (p.Thr592Ser)
c.1576C>G
c.1706C>G (p.Thr569Ser)
c.740C>G (p.Thr247Ser)
18g.53207731C>TCA300765517DCCc.1775C>T (p.Thr592Ile)
c.1576C>T
c.1706C>T (p.Thr569Ile)
c.740C>T (p.Thr247Ile)
 dbSNP COSMIC COSMIC
18g.53207732C>ACA503971869DCCc.1776C>A (p.Thr592=)
c.1577C>A
c.1707C>A (p.Thr569=)
c.741C>A (p.Thr247=)
 COSMIC
18g.53207732C=CA2304037500DCCc.1776C= (p.Thr592=)
c.1577C=
c.1707C= (p.Thr569=)
c.741C= (p.Thr247=)
18g.53207732C>GCA503971870DCCc.1776C>G (p.Thr592=)
c.1577C>G
c.1707C>G (p.Thr569=)
c.741C>G (p.Thr247=)
18g.53207732C>TCA300765518DCCc.1776C>T (p.Thr592=)
c.1577C>T
c.1707C>T (p.Thr569=)
c.741C>T (p.Thr247=)
 dbSNP gnomAD v4 COSMIC COSMIC
18g.53207733G>ACA8966982DCCc.1777G>A (p.Glu593Lys)
c.1578G>A
c.1708G>A (p.Glu570Lys)
c.742G>A (p.Glu248Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207733G>CCA402518165DCCc.1777G>C (p.Glu593Gln)
c.1578G>C
c.1708G>C (p.Glu570Gln)
c.742G>C (p.Glu248Gln)
18g.53207733G=CA2304037502DCCc.1777G= (p.Glu593=)
c.1578G=
c.1708G= (p.Glu570=)
c.742G= (p.Glu248=)
18g.53207733G>TCA402518166DCCc.1777G>T (p.Glu593Ter)
c.1578G>T
c.1708G>T (p.Glu570Ter)
c.742G>T (p.Glu248Ter)
 gnomAD v4
18g.53207734A>CCA402518168DCCc.1778A>C (p.Glu593Ala)
c.1579A>C
c.1709A>C (p.Glu570Ala)
c.743A>C (p.Glu248Ala)
18g.53207734A>GCA402518169DCCc.1778A>G (p.Glu593Gly)
c.1579A>G
c.1709A>G (p.Glu570Gly)
c.743A>G (p.Glu248Gly)
18g.53207734A>TCA402518167DCCc.1778A>T (p.Glu593Val)
c.1579A>T
c.1709A>T (p.Glu570Val)
c.743A>T (p.Glu248Val)
18g.53207735A=CA2304037504DCCc.1779A= (p.Glu593=)
c.1580A=
c.1710A= (p.Glu570=)
c.744A= (p.Glu248=)
18g.53207735A>CCA402518170DCCc.1779A>C (p.Glu593Asp)
c.1580A>C
c.1710A>C (p.Glu570Asp)
c.744A>C (p.Glu248Asp)
18g.53207735A>GCA8966983DCCc.1779A>G (p.Glu593=)
c.1580A>G
c.1710A>G (p.Glu570=)
c.744A>G (p.Glu248=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207735A>TCA402518171DCCc.1779A>T (p.Glu593Asp)
c.1580A>T
c.1710A>T (p.Glu570Asp)
c.744A>T (p.Glu248Asp)
18g.53207735_53207736insCACACCCAACACACA2812527174DCCc.1779_1780insCACACCCAACACA (p.Tyr594HisfsTer6)
c.1580_1581insCACACCCAACACA
c.1710_1711insCACACCCAACACA (p.Tyr571HisfsTer6)
c.744_745insCACACCCAACACA (p.Tyr249HisfsTer6)
18g.53207736T>ACA402518172DCCc.1780T>A (p.Tyr594Asn)
c.1581T>A
c.1711T>A (p.Tyr571Asn)
c.745T>A (p.Tyr249Asn)
18g.53207736T>CCA402518173DCCc.1780T>C (p.Tyr594His)
c.1581T>C
c.1711T>C (p.Tyr571His)
c.745T>C (p.Tyr249His)
18g.53207736T>GCA402518174DCCc.1780T>G (p.Tyr594Asp)
c.1581T>G
c.1711T>G (p.Tyr571Asp)
c.745T>G (p.Tyr249Asp)
 dbSNP
18g.53207736T=CA2304037505DCCc.1780T= (p.Tyr594=)
c.1581T=
c.1711T= (p.Tyr571=)
c.745T= (p.Tyr249=)
18g.53207737A>CCA402518175DCCc.1781A>C (p.Tyr594Ser)
c.1582A>C
c.1712A>C (p.Tyr571Ser)
c.746A>C (p.Tyr249Ser)
18g.53207737A>GCA402518176DCCc.1781A>G (p.Tyr594Cys)
c.1582A>G
c.1712A>G (p.Tyr571Cys)
c.746A>G (p.Tyr249Cys)
18g.53207737A>TCA402518177DCCc.1781A>T (p.Tyr594Phe)
c.1582A>T
c.1712A>T (p.Tyr571Phe)
c.746A>T (p.Tyr249Phe)
18g.53207738T>ACA402518178DCCc.1782T>A (p.Tyr594Ter)
c.1583T>A
c.1713T>A (p.Tyr571Ter)
c.747T>A (p.Tyr249Ter)
 COSMIC COSMIC
18g.53207738T>CCA503971871DCCc.1782T>C (p.Tyr594=)
c.1583T>C
c.1713T>C (p.Tyr571=)
c.747T>C (p.Tyr249=)
 gnomAD v4
18g.53207738T>GCA402518179DCCc.1782T>G (p.Tyr594Ter)
c.1583T>G
c.1713T>G (p.Tyr571Ter)
c.747T>G (p.Tyr249Ter)
18g.53207739A>CCA402518181DCCc.1783A>C (p.Ser595Arg)
c.1584A>C
c.1714A>C (p.Ser572Arg)
c.748A>C (p.Ser250Arg)
18g.53207739A>GCA402518182DCCc.1783A>G (p.Ser595Gly)
c.1584A>G
c.1714A>G (p.Ser572Gly)
c.748A>G (p.Ser250Gly)
18g.53207739A>TCA402518180DCCc.1783A>T (p.Ser595Cys)
c.1584A>T
c.1714A>T (p.Ser572Cys)
c.748A>T (p.Ser250Cys)
18g.53207740G>ACA402518183DCCc.1784G>A (p.Ser595Asn)
c.1585G>A
c.1715G>A (p.Ser572Asn)
c.749G>A (p.Ser250Asn)
 COSMIC
18g.53207740G>CCA402518184DCCc.1784G>C (p.Ser595Thr)
c.1585G>C
c.1715G>C (p.Ser572Thr)
c.749G>C (p.Ser250Thr)
18g.53207740G=CA2304037509DCCc.1784G= (p.Ser595=)
c.1585G=
c.1715G= (p.Ser572=)
c.749G= (p.Ser250=)
18g.53207740G>TCA402518185DCCc.1784G>T (p.Ser595Ile)
c.1585G>T
c.1715G>T (p.Ser572Ile)
c.749G>T (p.Ser250Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207741T>ACA402518186DCCc.1785T>A (p.Ser595Arg)
c.1586T>A
c.1716T>A (p.Ser572Arg)
c.750T>A (p.Ser250Arg)
18g.53207741T>CCA503971872DCCc.1785T>C (p.Ser595=)
c.1586T>C
c.1716T>C (p.Ser572=)
c.750T>C (p.Ser250=)
18g.53207741T>GCA8966984DCCc.1785T>G (p.Ser595Arg)
c.1586T>G
c.1716T>G (p.Ser572Arg)
c.750T>G (p.Ser250Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207741T=CA2304037511DCCc.1785T= (p.Ser595=)
c.1586T=
c.1716T= (p.Ser572=)
c.750T= (p.Ser250=)
18g.53207742C>ACA402518189DCCc.1786C>A (p.Leu596Ile)
c.1587C>A
c.1717C>A (p.Leu573Ile)
c.751C>A (p.Leu251Ile)
 dbSNP gnomAD v2 gnomAD v4
18g.53207742C=CA2304037515DCCc.1786C= (p.Leu596=)
c.1587C=
c.1717C= (p.Leu573=)
c.751C= (p.Leu251=)
18g.53207742C>GCA402518187DCCc.1786C>G (p.Leu596Val)
c.1587C>G
c.1717C>G (p.Leu573Val)
c.751C>G (p.Leu251Val)
18g.53207742C>TCA402518188DCCc.1786C>T (p.Leu596Phe)
c.1587C>T
c.1717C>T (p.Leu573Phe)
c.751C>T (p.Leu251Phe)
 gnomAD v4
18g.53207743T>ACA402518190DCCc.1787T>A (p.Leu596His)
c.1588T>A
c.1718T>A (p.Leu573His)
c.752T>A (p.Leu251His)
18g.53207743T>CCA402518191DCCc.1787T>C (p.Leu596Pro)
c.1588T>C
c.1718T>C (p.Leu573Pro)
c.752T>C (p.Leu251Pro)
18g.53207743T>GCA402518192DCCc.1787T>G (p.Leu596Arg)
c.1588T>G
c.1718T>G (p.Leu573Arg)
c.752T>G (p.Leu251Arg)
18g.53207744T>ACA503971874DCCc.1788T>A (p.Leu596=)
c.1589T>A
c.1719T>A (p.Leu573=)
c.753T>A (p.Leu251=)
18g.53207744T>CCA503971873DCCc.1788T>C (p.Leu596=)
c.1589T>C
c.1719T>C (p.Leu573=)
c.753T>C (p.Leu251=)
 gnomAD v4 COSMIC
18g.53207744T>GCA503971875DCCc.1788T>G (p.Leu596=)
c.1589T>G
c.1719T>G (p.Leu573=)
c.753T>G (p.Leu251=)
18g.53207745C>ACA503971876DCCc.1789C>A (p.Arg597=)
c.1590C>A
c.1720C>A (p.Arg574=)
c.754C>A (p.Arg252=)
 gnomAD v4
18g.53207745C=CA2304037519DCCc.1789C= (p.Arg597=)
c.1590C=
c.1720C= (p.Arg574=)
c.754C= (p.Arg252=)
18g.53207745C>GCA402518193DCCc.1789C>G (p.Arg597Gly)
c.1590C>G
c.1720C>G (p.Arg574Gly)
c.754C>G (p.Arg252Gly)
 dbSNP
18g.53207745C>TCA402518194DCCc.1789C>T (p.Arg597Ter)
c.1590C>T
c.1720C>T (p.Arg574Ter)
c.754C>T (p.Arg252Ter)
 ClinVar dbSNP COSMIC COSMIC
18g.53207746G>ACA402518196DCCc.1790G>A (p.Arg597Gln)
c.1591G>A
c.1721G>A (p.Arg574Gln)
c.755G>A (p.Arg252Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.53207746G>CCA16044032DCCc.1790G>C (p.Arg597Pro)
c.1591G>C
c.1721G>C (p.Arg574Pro)
c.755G>C (p.Arg252Pro)
 ClinVar dbSNP
18g.53207746G=CA2304037522DCCc.1790G= (p.Arg597=)
c.1591G=
c.1721G= (p.Arg574=)
c.755G= (p.Arg252=)
18g.53207746G>TCA402518195DCCc.1790G>T (p.Arg597Leu)
c.1591G>T
c.1721G>T (p.Arg574Leu)
c.755G>T (p.Arg252Leu)
 gnomAD v4
18g.53207747A=CA2304037525DCCc.1791A= (p.Arg597=)
c.1592A=
c.1722A= (p.Arg574=)
c.756A= (p.Arg252=)
18g.53207747A>CCA503971877DCCc.1791A>C (p.Arg597=)
c.1592A>C
c.1722A>C (p.Arg574=)
c.756A>C (p.Arg252=)
 dbSNP
18g.53207747A>GCA503971878DCCc.1791A>G (p.Arg597=)
c.1592A>G
c.1722A>G (p.Arg574=)
c.756A>G (p.Arg252=)
18g.53207747A>TCA503971879DCCc.1791A>T (p.Arg597=)
c.1592A>T
c.1722A>T (p.Arg574=)
c.756A>T (p.Arg252=)
 dbSNP gnomAD v4
18g.53207748T>ACA402518197DCCc.1792T>A (p.Phe598Ile)
c.1593T>A
c.1723T>A (p.Phe575Ile)
c.757T>A (p.Phe253Ile)
18g.53207748T>CCA300765519DCCc.1792T>C (p.Phe598Leu)
c.1593T>C
c.1723T>C (p.Phe575Leu)
c.757T>C (p.Phe253Leu)
 dbSNP
18g.53207748T>GCA402518198DCCc.1792T>G (p.Phe598Val)
c.1593T>G
c.1723T>G (p.Phe575Val)
c.757T>G (p.Phe253Val)
18g.53207748T=CA2304037527DCCc.1792T= (p.Phe598=)
c.1593T=
c.1723T= (p.Phe575=)
c.757T= (p.Phe253=)
18g.53207749T>ACA402518199DCCc.1793T>A (p.Phe598Tyr)
c.1594T>A
c.1724T>A (p.Phe575Tyr)
c.758T>A (p.Phe253Tyr)
 dbSNP gnomAD v4
18g.53207749T>CCA402518200DCCc.1793T>C (p.Phe598Ser)
c.1594T>C
c.1724T>C (p.Phe575Ser)
c.758T>C (p.Phe253Ser)
 dbSNP gnomAD v3 gnomAD v4
18g.53207749T>GCA402518201DCCc.1793T>G (p.Phe598Cys)
c.1594T>G
c.1724T>G (p.Phe575Cys)
c.758T>G (p.Phe253Cys)
18g.53207749T=CA2304037531DCCc.1793T= (p.Phe598=)
c.1594T=
c.1724T= (p.Phe575=)
c.758T= (p.Phe253=)
18g.53207750C>ACA402518202DCCc.1794C>A (p.Phe598Leu)
c.1595C>A
c.1725C>A (p.Phe575Leu)
c.759C>A (p.Phe253Leu)
 COSMIC
18g.53207750C>GCA402518203DCCc.1794C>G (p.Phe598Leu)
c.1595C>G
c.1725C>G (p.Phe575Leu)
c.759C>G (p.Phe253Leu)
18g.53207750C>TCA503971880DCCc.1794C>T (p.Phe598=)
c.1595C>T
c.1725C>T (p.Phe575=)
c.759C>T (p.Phe253=)
18g.53207751T>ACA402518204DCCc.1795T>A (p.Leu599Ile)
c.1596T>A
c.1726T>A (p.Leu576Ile)
c.760T>A (p.Leu254Ile)
18g.53207751T>CCA503971881DCCc.1795T>C (p.Leu599=)
c.1596T>C
c.1726T>C (p.Leu576=)
c.760T>C (p.Leu254=)
18g.53207751T>GCA402518205DCCc.1795T>G (p.Leu599Val)
c.1596T>G
c.1726T>G (p.Leu576Val)
c.760T>G (p.Leu254Val)
18g.53207752T>ACA402518206DCCc.1796T>A (p.Leu599Ter)
c.1597T>A
c.1727T>A (p.Leu576Ter)
c.761T>A (p.Leu254Ter)
18g.53207752T>CCA402518207DCCc.1796T>C (p.Leu599Ser)
c.1597T>C
c.1727T>C (p.Leu576Ser)
c.761T>C (p.Leu254Ser)
18g.53207752T>GCA402518208DCCc.1796T>G (p.Leu599Ter)
c.1597T>G
c.1727T>G (p.Leu576Ter)
c.761T>G (p.Leu254Ter)
 COSMIC COSMIC
18g.53207753A=CA2304037535DCCc.1797A= (p.Leu599=)
c.1598A=
c.1728A= (p.Leu576=)
c.762A= (p.Leu254=)
18g.53207753A>CCA402518209DCCc.1797A>C (p.Leu599Phe)
c.1598A>C
c.1728A>C (p.Leu576Phe)
c.762A>C (p.Leu254Phe)
18g.53207753A>GCA503971882DCCc.1797A>G (p.Leu599=)
c.1598A>G
c.1728A>G (p.Leu576=)
c.762A>G (p.Leu254=)
 dbSNP
18g.53207753A>TCA402518210DCCc.1797A>T (p.Leu599Phe)
c.1598A>T
c.1728A>T (p.Leu576Phe)
c.762A>T (p.Leu254Phe)
 gnomAD v4
18g.53207754G>ACA402518213DCCc.1798G>A (p.Ala600Thr)
c.1599G>A
c.1729G>A (p.Ala577Thr)
c.763G>A (p.Ala255Thr)
18g.53207754G>CCA402518211DCCc.1798G>C (p.Ala600Pro)
c.1599G>C
c.1729G>C (p.Ala577Pro)
c.763G>C (p.Ala255Pro)
18g.53207754G>TCA402518212DCCc.1798G>T (p.Ala600Ser)
c.1599G>T
c.1729G>T (p.Ala577Ser)
c.763G>T (p.Ala255Ser)
18g.53207755C>ACA402518214DCCc.1799C>A (p.Ala600Asp)
c.1600C>A
c.1730C>A (p.Ala577Asp)
c.764C>A (p.Ala255Asp)
18g.53207755C=CA2304037538DCCc.1799C= (p.Ala600=)
c.1600C=
c.1730C= (p.Ala577=)
c.764C= (p.Ala255=)
18g.53207755C>GCA402518215DCCc.1799C>G (p.Ala600Gly)
c.1600C>G
c.1730C>G (p.Ala577Gly)
c.764C>G (p.Ala255Gly)
 gnomAD v4
18g.53207755C>TCA8966985DCCc.1799C>T (p.Ala600Val)
c.1600C>T
c.1730C>T (p.Ala577Val)
c.764C>T (p.Ala255Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207756T>ACA503971883DCCc.1800T>A (p.Ala600=)
c.1601T>A
c.1731T>A (p.Ala577=)
c.765T>A (p.Ala255=)
 gnomAD v4
18g.53207756T>CCA503971884DCCc.1800T>C (p.Ala600=)
c.1601T>C
c.1731T>C (p.Ala577=)
c.765T>C (p.Ala255=)
18g.53207756T>GCA503971885DCCc.1800T>G (p.Ala600=)
c.1601T>G
c.1731T>G (p.Ala577=)
c.765T>G (p.Ala255=)
18g.53207757delCA2567003387DCCc.1801del (p.Tyr601IlefsTer13)
c.1602del
c.1732del (p.Tyr578IlefsTer13)
c.766del (p.Tyr256IlefsTer13)
18g.53207757T>ACA402518216DCCc.1801T>A (p.Tyr601Asn)
c.1602T>A
c.1732T>A (p.Tyr578Asn)
c.766T>A (p.Tyr256Asn)
18g.53207757T>CCA402518217DCCc.1801T>C (p.Tyr601His)
c.1602T>C
c.1732T>C (p.Tyr578His)
c.766T>C (p.Tyr256His)
18g.53207757T>GCA402518218DCCc.1801T>G (p.Tyr601Asp)
c.1602T>G
c.1732T>G (p.Tyr578Asp)
c.766T>G (p.Tyr256Asp)
18g.53207758A>CCA402518219DCCc.1802A>C (p.Tyr601Ser)
c.1603A>C
c.1733A>C (p.Tyr578Ser)
c.767A>C (p.Tyr256Ser)
18g.53207758A>GCA402518220DCCc.1802A>G (p.Tyr601Cys)
c.1603A>G
c.1733A>G (p.Tyr578Cys)
c.767A>G (p.Tyr256Cys)
18g.53207758A>TCA402518221DCCc.1802A>T (p.Tyr601Phe)
c.1603A>T
c.1733A>T (p.Tyr578Phe)
c.767A>T (p.Tyr256Phe)
18g.53207759T>ACA402518222DCCc.1803T>A (p.Tyr601Ter)
c.1604T>A
c.1734T>A (p.Tyr578Ter)
c.768T>A (p.Tyr256Ter)
18g.53207759T>CCA503971886DCCc.1803T>C (p.Tyr601=)
c.1604T>C
c.1734T>C (p.Tyr578=)
c.768T>C (p.Tyr256=)
 gnomAD v4
18g.53207759T>GCA402518223DCCc.1803T>G (p.Tyr601Ter)
c.1604T>G
c.1734T>G (p.Tyr578Ter)
c.768T>G (p.Tyr256Ter)
18g.53207760A>CCA402518226DCCc.1804A>C (p.Asn602His)
c.1605A>C
c.1735A>C (p.Asn579His)
c.769A>C (p.Asn257His)
18g.53207760A>GCA402518225DCCc.1804A>G (p.Asn602Asp)
c.1605A>G
c.1735A>G (p.Asn579Asp)
c.769A>G (p.Asn257Asp)
18g.53207760A>TCA402518224DCCc.1804A>T (p.Asn602Tyr)
c.1605A>T
c.1735A>T (p.Asn579Tyr)
c.769A>T (p.Asn257Tyr)
18g.53207761A=CA2304037541DCCc.1805A= (p.Asn602=)
c.1606A=
c.1736A= (p.Asn579=)
c.770A= (p.Asn257=)
18g.53207761A>CCA402518227DCCc.1805A>C (p.Asn602Thr)
c.1606A>C
c.1736A>C (p.Asn579Thr)
c.770A>C (p.Asn257Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.53207761A>GCA402518228DCCc.1805A>G (p.Asn602Ser)
c.1606A>G
c.1736A>G (p.Asn579Ser)
c.770A>G (p.Asn257Ser)
 COSMIC
18g.53207761A>TCA402518229DCCc.1805A>T (p.Asn602Ile)
c.1606A>T
c.1736A>T (p.Asn579Ile)
c.770A>T (p.Asn257Ile)
18g.53207762T>ACA402518230DCCc.1806T>A (p.Asn602Lys)
c.1607T>A
c.1737T>A (p.Asn579Lys)
c.771T>A (p.Asn257Lys)
18g.53207762T>CCA503971887DCCc.1806T>C (p.Asn602=)
c.1607T>C
c.1737T>C (p.Asn579=)
c.771T>C (p.Asn257=)
18g.53207762T>GCA402518231DCCc.1806T>G (p.Asn602Lys)
c.1607T>G
c.1737T>G (p.Asn579Lys)
c.771T>G (p.Asn257Lys)
18g.53207763C>ACA402518233DCCc.1807C>A (p.Arg603Ser)
c.1608C>A
c.1738C>A (p.Arg580Ser)
c.772C>A (p.Arg258Ser)
 dbSNP
18g.53207763C=CA2304037543DCCc.1807C= (p.Arg603=)
c.1608C=
c.1738C= (p.Arg580=)
c.772C= (p.Arg258=)
18g.53207763C>GCA402518232DCCc.1807C>G (p.Arg603Gly)
c.1608C>G
c.1738C>G (p.Arg580Gly)
c.772C>G (p.Arg258Gly)
 gnomAD v4
18g.53207763C>TCA8966986DCCc.1807C>T (p.Arg603Cys)
c.1608C>T
c.1738C>T (p.Arg580Cys)
c.772C>T (p.Arg258Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.53207764G>ACA402518234DCCc.1808G>A (p.Arg603His)
c.1609G>A
c.1739G>A (p.Arg580His)
c.773G>A (p.Arg258His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
18g.53207764G>CCA402518235DCCc.1808G>C (p.Arg603Pro)
c.1609G>C
c.1739G>C (p.Arg580Pro)
c.773G>C (p.Arg258Pro)
18g.53207764G=CA2304037545DCCc.1808G= (p.Arg603=)
c.1609G=
c.1739G= (p.Arg580=)
c.773G= (p.Arg258=)
18g.53207764G>TCA300765520DCCc.1808G>T (p.Arg603Leu)
c.1609G>T
c.1739G>T (p.Arg580Leu)
c.773G>T (p.Arg258Leu)
 dbSNP gnomAD v3 gnomAD v4
18g.53207765C>ACA503971890DCCc.1809C>A (p.Arg603=)
c.1610C>A
c.1740C>A (p.Arg580=)
c.774C>A (p.Arg258=)
18g.53207765C>GCA503971888DCCc.1809C>G (p.Arg603=)
c.1610C>G
c.1740C>G (p.Arg580=)
c.774C>G (p.Arg258=)
18g.53207765C>TCA503971889DCCc.1809C>T (p.Arg603=)
c.1610C>T
c.1740C>T (p.Arg580=)
c.774C>T (p.Arg258=)
18g.53207766T>ACA402518236DCCc.1810T>A (p.Tyr604Asn)
c.1611T>A
c.1741T>A (p.Tyr581Asn)
c.775T>A (p.Tyr259Asn)
18g.53207766T>CCA402518237DCCc.1810T>C (p.Tyr604His)
c.1611T>C
c.1741T>C (p.Tyr581His)
c.775T>C (p.Tyr259His)
18g.53207766T>GCA402518238DCCc.1810T>G (p.Tyr604Asp)
c.1611T>G
c.1741T>G (p.Tyr581Asp)
c.775T>G (p.Tyr259Asp)
18g.53207767A=CA2304037548DCCc.1811A= (p.Tyr604=)
c.1612A=
c.1742A= (p.Tyr581=)
c.776A= (p.Tyr259=)
18g.53207767A>CCA402518239DCCc.1811A>C (p.Tyr604Ser)
c.1612A>C
c.1742A>C (p.Tyr581Ser)
c.776A>C (p.Tyr259Ser)
 gnomAD v4
18g.53207767A>GCA300765521DCCc.1811A>G (p.Tyr604Cys)
c.1612A>G
c.1742A>G (p.Tyr581Cys)
c.776A>G (p.Tyr259Cys)
 dbSNP gnomAD v3 gnomAD v4
18g.53207767A>TCA402518240DCCc.1811A>T (p.Tyr604Phe)
c.1612A>T
c.1742A>T (p.Tyr581Phe)
c.776A>T (p.Tyr259Phe)
18g.53207768T>ACA402518241DCCc.1812T>A (p.Tyr604Ter)
c.1613T>A
c.1743T>A (p.Tyr581Ter)
c.777T>A (p.Tyr259Ter)
18g.53207768T>CCA503971891DCCc.1812T>C (p.Tyr604=)
c.1613T>C
c.1743T>C (p.Tyr581=)
c.777T>C (p.Tyr259=)
 dbSNP gnomAD v4
18g.53207768T>GCA402518242DCCc.1812T>G (p.Tyr604Ter)
c.1613T>G
c.1743T>G (p.Tyr581Ter)
c.777T>G (p.Tyr259Ter)
18g.53207768T=CA2304037553DCCc.1812T= (p.Tyr604=)
c.1613T=
c.1743T= (p.Tyr581=)
c.777T= (p.Tyr259=)
18g.53207769G>ACA402518243DCCc.1813G>A (p.Gly605Ser)
c.1614G>A
c.1744G>A (p.Gly582Ser)
c.778G>A (p.Gly260Ser)
 gnomAD v4
18g.53207769G>CCA402518244DCCc.1813G>C (p.Gly605Arg)
c.1614G>C
c.1744G>C (p.Gly582Arg)
c.778G>C (p.Gly260Arg)
18g.53207769G>TCA402518245DCCc.1813G>T (p.Gly605Cys)
c.1614G>T
c.1744G>T (p.Gly582Cys)
c.778G>T (p.Gly260Cys)
18g.53207770G>ACA402518246DCCc.1814G>A (p.Gly605Asp)
c.1615G>A
c.1745G>A (p.Gly582Asp)
c.779G>A (p.Gly260Asp)
18g.53207770G>CCA402518247DCCc.1814G>C (p.Gly605Ala)
c.1615G>C
c.1745G>C (p.Gly582Ala)
c.779G>C (p.Gly260Ala)
18g.53207770G>TCA402518248DCCc.1814G>T (p.Gly605Val)
c.1615G>T
c.1745G>T (p.Gly582Val)
c.779G>T (p.Gly260Val)
18g.53207771T>ACA503971892DCCc.1815T>A (p.Gly605=)
c.1616T>A
c.1746T>A (p.Gly582=)
c.780T>A (p.Gly260=)
18g.53207771T>CCA503971893DCCc.1815T>C (p.Gly605=)
c.1616T>C
c.1746T>C (p.Gly582=)
c.780T>C (p.Gly260=)
18g.53207771T>GCA503971894DCCc.1815T>G (p.Gly605=)
c.1616T>G
c.1746T>G (p.Gly582=)
c.780T>G (p.Gly260=)
18g.53207772C>ACA402518249DCCc.1816C>A (p.Pro606Thr)
c.1617C>A
c.1747C>A (p.Pro583Thr)
c.781C>A (p.Pro261Thr)
 COSMIC COSMIC
18g.53207772C>GCA402518250DCCc.1816C>G (p.Pro606Ala)
c.1617C>G
c.1747C>G (p.Pro583Ala)
c.781C>G (p.Pro261Ala)
18g.53207772C>TCA402518251DCCc.1816C>T (p.Pro606Ser)
c.1617C>T
c.1747C>T (p.Pro583Ser)
c.781C>T (p.Pro261Ser)
 COSMIC COSMIC
18g.53207773C>ACA402518252DCCc.1817C>A (p.Pro606Gln)
c.1618C>A
c.1748C>A (p.Pro583Gln)
c.782C>A (p.Pro261Gln)
18g.53207773C=CA2304037557DCCc.1817C= (p.Pro606=)
c.1618C=
c.1748C= (p.Pro583=)
c.782C= (p.Pro261=)
18g.53207773C>GCA8966987DCCc.1817C>G (p.Pro606Arg)
c.1618C>G
c.1748C>G (p.Pro583Arg)
c.782C>G (p.Pro261Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207773C>TCA8966988DCCc.1817C>T (p.Pro606Leu)
c.1618C>T
c.1748C>T (p.Pro583Leu)
c.782C>T (p.Pro261Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207774G>ACA8966989DCCc.1818G>A (p.Pro606=)
c.1619G>A
c.1749G>A (p.Pro583=)
c.783G>A (p.Pro261=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207774G>CCA503971896DCCc.1818G>C (p.Pro606=)
c.1619G>C
c.1749G>C (p.Pro583=)
c.783G>C (p.Pro261=)
 COSMIC COSMIC
18g.53207774G=CA2304037561DCCc.1818G= (p.Pro606=)
c.1619G=
c.1749G= (p.Pro583=)
c.783G= (p.Pro261=)
18g.53207774G>TCA503971895DCCc.1818G>T (p.Pro606=)
c.1619G>T
c.1749G>T (p.Pro583=)
c.783G>T (p.Pro261=)
 gnomAD v4
18g.53207775G>ACA402518253DCCc.1819G>A (p.Gly607Ser)
c.1620G>A
c.1750G>A (p.Gly584Ser)
c.784G>A (p.Gly262Ser)
 dbSNP COSMIC COSMIC
18g.53207775G>CCA402518255DCCc.1819G>C (p.Gly607Arg)
c.1620G>C
c.1750G>C (p.Gly584Arg)
c.784G>C (p.Gly262Arg)
 dbSNP
18g.53207775G>TCA402518254DCCc.1819G>T (p.Gly607Cys)
c.1620G>T
c.1750G>T (p.Gly584Cys)
c.784G>T (p.Gly262Cys)
18g.53207776G>ACA8966990DCCc.1820G>A (p.Gly607Asp)
c.1621G>A
c.1751G>A (p.Gly584Asp)
c.785G>A (p.Gly262Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207776G>CCA402518257DCCc.1820G>C (p.Gly607Ala)
c.1621G>C
c.1751G>C (p.Gly584Ala)
c.785G>C (p.Gly262Ala)
18g.53207776G=CA2304037563DCCc.1820G= (p.Gly607=)
c.1621G=
c.1751G= (p.Gly584=)
c.785G= (p.Gly262=)
18g.53207776G>TCA402518256DCCc.1820G>T (p.Gly607Val)
c.1621G>T
c.1751G>T (p.Gly584Val)
c.785G>T (p.Gly262Val)
 COSMIC COSMIC
18g.53207777C>ACA503971897DCCc.1821C>A (p.Gly607=)
c.1622C>A
c.1752C>A (p.Gly584=)
c.786C>A (p.Gly262=)
18g.53207777C=CA2304037566DCCc.1821C= (p.Gly607=)
c.1622C=
c.1752C= (p.Gly584=)
c.786C= (p.Gly262=)
18g.53207777C>GCA503971898DCCc.1821C>G (p.Gly607=)
c.1622C>G
c.1752C>G (p.Gly584=)
c.786C>G (p.Gly262=)
18g.53207777C>TCA8966991DCCc.1821C>T (p.Gly607=)
c.1622C>T
c.1752C>T (p.Gly584=)
c.786C>T (p.Gly262=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.53207778G>ACA8966992DCCc.1822G>A (p.Val608Ile)
c.1623G>A
c.1753G>A (p.Val585Ile)
c.787G>A (p.Val263Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207778G>CCA402518258DCCc.1822G>C (p.Val608Leu)
c.1623G>C
c.1753G>C (p.Val585Leu)
c.787G>C (p.Val263Leu)
18g.53207778G=CA2304037569DCCc.1822G= (p.Val608=)
c.1623G=
c.1753G= (p.Val585=)
c.787G= (p.Val263=)
18g.53207778G>TCA402518259DCCc.1822G>T (p.Val608Phe)
c.1623G>T
c.1753G>T (p.Val585Phe)
c.787G>T (p.Val263Phe)
18g.53207779T>ACA402518260DCCc.1823T>A (p.Val608Asp)
c.1624T>A
c.1754T>A (p.Val585Asp)
c.788T>A (p.Val263Asp)
18g.53207779T>CCA402518261DCCc.1823T>C (p.Val608Ala)
c.1624T>C
c.1754T>C (p.Val585Ala)
c.788T>C (p.Val263Ala)
18g.53207779T>GCA402518262DCCc.1823T>G (p.Val608Gly)
c.1624T>G
c.1754T>G (p.Val585Gly)
c.788T>G (p.Val263Gly)
18g.53207780C>ACA300765522DCCc.1824C>A (p.Val608=)
c.1625C>A
c.1755C>A (p.Val585=)
c.789C>A (p.Val263=)
 dbSNP
18g.53207780C=CA2304037572DCCc.1824C= (p.Val608=)
c.1625C=
c.1755C= (p.Val585=)
c.789C= (p.Val263=)
18g.53207780C>GCA503971899DCCc.1824C>G (p.Val608=)
c.1625C>G
c.1755C>G (p.Val585=)
c.789C>G (p.Val263=)
 dbSNP
18g.53207780C>TCA503971900DCCc.1824C>T (p.Val608=)
c.1625C>T
c.1755C>T (p.Val585=)
c.789C>T (p.Val263=)
 dbSNP gnomAD v4
18g.53207781T>ACA402518263DCCc.1825T>A (p.Ser609Thr)
c.1626T>A
c.1756T>A (p.Ser586Thr)
c.790T>A (p.Ser264Thr)
18g.53207781T>CCA402518264DCCc.1825T>C (p.Ser609Pro)
c.1626T>C
c.1756T>C (p.Ser586Pro)
c.790T>C (p.Ser264Pro)
18g.53207781T>GCA402518265DCCc.1825T>G (p.Ser609Ala)
c.1626T>G
c.1756T>G (p.Ser586Ala)
c.790T>G (p.Ser264Ala)
18g.53207782C>ACA402518268DCCc.1826C>A (p.Ser609Tyr)
c.1627C>A
c.1757C>A (p.Ser586Tyr)
c.791C>A (p.Ser264Tyr)
 dbSNP
18g.53207782C>GCA402518267DCCc.1826C>G (p.Ser609Cys)
c.1627C>G
c.1757C>G (p.Ser586Cys)
c.791C>G (p.Ser264Cys)
18g.53207782C>TCA402518266DCCc.1826C>T (p.Ser609Phe)
c.1627C>T
c.1757C>T (p.Ser586Phe)
c.791C>T (p.Ser264Phe)
 gnomAD v4
18g.53207783T>ACA503971901DCCc.1827T>A (p.Ser609=)
c.1628T>A
c.1758T>A (p.Ser586=)
c.792T>A (p.Ser264=)
18g.53207783T>CCA503971902DCCc.1827T>C (p.Ser609=)
c.1628T>C
c.1758T>C (p.Ser586=)
c.792T>C (p.Ser264=)
 COSMIC COSMIC
18g.53207783T>GCA503971903DCCc.1827T>G (p.Ser609=)
c.1628T>G
c.1758T>G (p.Ser586=)
c.792T>G (p.Ser264=)
18g.53207784A=CA2304037575DCCc.1828A= (p.Thr610=)
c.1629A=
c.1759A= (p.Thr587=)
c.793A= (p.Thr265=)
18g.53207784A>CCA402518269DCCc.1828A>C (p.Thr610Pro)
c.1629A>C
c.1759A>C (p.Thr587Pro)
c.793A>C (p.Thr265Pro)
18g.53207784A>GCA300765523DCCc.1828A>G (p.Thr610Ala)
c.1629A>G
c.1759A>G (p.Thr587Ala)
c.793A>G (p.Thr265Ala)
 dbSNP gnomAD v3 gnomAD v4
18g.53207784A>TCA402518270DCCc.1828A>T (p.Thr610Ser)
c.1629A>T
c.1759A>T (p.Thr587Ser)
c.793A>T (p.Thr265Ser)
18g.53207785C>ACA8966993DCCc.1829C>A (p.Thr610Asn)
c.1630C>A
c.1760C>A (p.Thr587Asn)
c.794C>A (p.Thr265Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207785C=CA2304037577DCCc.1829C= (p.Thr610=)
c.1630C=
c.1760C= (p.Thr587=)
c.794C= (p.Thr265=)
18g.53207785C>GCA402518271DCCc.1829C>G (p.Thr610Ser)
c.1630C>G
c.1760C>G (p.Thr587Ser)
c.794C>G (p.Thr265Ser)
 gnomAD v4
18g.53207785C>TCA402518272DCCc.1829C>T (p.Thr610Ile)
c.1630C>T
c.1760C>T (p.Thr587Ile)
c.794C>T (p.Thr265Ile)
18g.53207786T>ACA503971906DCCc.1830T>A (p.Thr610=)
c.1631T>A
c.1761T>A (p.Thr587=)
c.795T>A (p.Thr265=)
18g.53207786T>CCA503971904DCCc.1830T>C (p.Thr610=)
c.1631T>C
c.1761T>C (p.Thr587=)
c.795T>C (p.Thr265=)
18g.53207786T>GCA503971905DCCc.1830T>G (p.Thr610=)
c.1631T>G
c.1761T>G (p.Thr587=)
c.795T>G (p.Thr265=)
 gnomAD v4
18g.53207787G>ACA402518273DCCc.1831G>A (p.Asp611Asn)
c.1632G>A
c.1762G>A (p.Asp588Asn)
c.796G>A (p.Asp266Asn)
18g.53207787G>CCA402518274DCCc.1831G>C (p.Asp611His)
c.1632G>C
c.1762G>C (p.Asp588His)
c.796G>C (p.Asp266His)
18g.53207787G=CA2304037579DCCc.1831G= (p.Asp611=)
c.1632G=
c.1762G= (p.Asp588=)
c.796G= (p.Asp266=)
18g.53207787G>TCA8966994DCCc.1831G>T (p.Asp611Tyr)
c.1632G>T
c.1762G>T (p.Asp588Tyr)
c.796G>T (p.Asp266Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.53207788A=CA2304037583DCCc.1832A= (p.Asp611=)
c.1633A=
c.1763A= (p.Asp588=)
c.797A= (p.Asp266=)
18g.53207788A>CCA402518275DCCc.1832A>C (p.Asp611Ala)
c.1633A>C
c.1763A>C (p.Asp588Ala)
c.797A>C (p.Asp266Ala)
18g.53207788A>GCA402518276DCCc.1832A>G (p.Asp611Gly)
c.1633A>G
c.1763A>G (p.Asp588Gly)
c.797A>G (p.Asp266Gly)
 dbSNP gnomAD v4 COSMIC
18g.53207788A>TCA402518277DCCc.1832A>T (p.Asp611Val)
c.1633A>T
c.1763A>T (p.Asp588Val)
c.797A>T (p.Asp266Val)
18g.53207789T>ACA402518278DCCc.1833T>A (p.Asp611Glu)
c.1634T>A
c.1764T>A (p.Asp588Glu)
c.798T>A (p.Asp266Glu)
18g.53207789T>CCA503971907DCCc.1833T>C (p.Asp611=)
c.1634T>C
c.1764T>C (p.Asp588=)
c.798T>C (p.Asp266=)
18g.53207789T>GCA402518279DCCc.1833T>G (p.Asp611Glu)
c.1634T>G
c.1764T>G (p.Asp588Glu)
c.798T>G (p.Asp266Glu)
18g.53207790G>ACA402518280DCCc.1834G>A (p.Asp612Asn)
c.1635G>A
c.1765G>A (p.Asp589Asn)
c.799G>A (p.Asp267Asn)
18g.53207790G>CCA402518281DCCc.1834G>C (p.Asp612His)
c.1635G>C
c.1765G>C (p.Asp589His)
c.799G>C (p.Asp267His)
 gnomAD v4
18g.53207790G>TCA402518282DCCc.1834G>T (p.Asp612Tyr)
c.1635G>T
c.1765G>T (p.Asp589Tyr)
c.799G>T (p.Asp267Tyr)
18g.53207791A=CA2304037585DCCc.1835A= (p.Asp612=)
c.1636A=
c.1766A= (p.Asp589=)
c.800A= (p.Asp267=)
18g.53207791A>CCA300765524DCCc.1835A>C (p.Asp612Ala)
c.1636A>C
c.1766A>C (p.Asp589Ala)
c.800A>C (p.Asp267Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207791A>GCA402518283DCCc.1835A>G (p.Asp612Gly)
c.1636A>G
c.1766A>G (p.Asp589Gly)
c.800A>G (p.Asp267Gly)
 gnomAD v4
18g.53207791A>TCA402518284DCCc.1835A>T (p.Asp612Val)
c.1636A>T
c.1766A>T (p.Asp589Val)
c.800A>T (p.Asp267Val)
18g.53207792T>ACA402518285DCCc.1836T>A (p.Asp612Glu)
c.1637T>A
c.1767T>A (p.Asp589Glu)
c.801T>A (p.Asp267Glu)
18g.53207792T>CCA503971908DCCc.1836T>C (p.Asp612=)
c.1637T>C
c.1767T>C (p.Asp589=)
c.801T>C (p.Asp267=)
 dbSNP gnomAD v3 gnomAD v4
18g.53207792T>GCA402518286DCCc.1836T>G (p.Asp612Glu)
c.1637T>G
c.1767T>G (p.Asp589Glu)
c.801T>G (p.Asp267Glu)
18g.53207792T=CA2304037587DCCc.1836T= (p.Asp612=)
c.1637T=
c.1767T= (p.Asp589=)
c.801T= (p.Asp267=)
18g.53207793A=CA2304037589DCCc.1837A= (p.Ile613=)
c.1638A=
c.1768A= (p.Ile590=)
c.802A= (p.Ile268=)
18g.53207793A>CCA402518287DCCc.1837A>C (p.Ile613Leu)
c.1638A>C
c.1768A>C (p.Ile590Leu)
c.802A>C (p.Ile268Leu)
18g.53207793A>GCA8966995DCCc.1837A>G (p.Ile613Val)
c.1638A>G
c.1768A>G (p.Ile590Val)
c.802A>G (p.Ile268Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.53207793A>TCA402518288DCCc.1837A>T (p.Ile613Leu)
c.1638A>T
c.1768A>T (p.Ile590Leu)
c.802A>T (p.Ile268Leu)
 gnomAD v4
18g.53207794T>ACA402518289DCCc.1838T>A (p.Ile613Lys)
c.1639T>A
c.1769T>A (p.Ile590Lys)
c.803T>A (p.Ile268Lys)
 gnomAD v4
18g.53207794T>CCA402518290DCCc.1838T>C (p.Ile613Thr)
c.1639T>C
c.1769T>C (p.Ile590Thr)
c.803T>C (p.Ile268Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.53207794T>GCA402518291DCCc.1838T>G (p.Ile613Arg)
c.1639T>G
c.1769T>G (p.Ile590Arg)
c.803T>G (p.Ile268Arg)
18g.53207794T=CA2304037593DCCc.1838T= (p.Ile613=)
c.1639T=
c.1769T= (p.Ile590=)
c.803T= (p.Ile268=)
18g.53207795A>CCA503971909DCCc.1839A>C (p.Ile613=)
c.1640A>C
c.1770A>C (p.Ile590=)
c.804A>C (p.Ile268=)
18g.53207795A>GCA402518292DCCc.1839A>G (p.Ile613Met)
c.1640A>G
c.1770A>G (p.Ile590Met)
c.804A>G (p.Ile268Met)
18g.53207795A>TCA503971910DCCc.1839A>T (p.Ile613=)
c.1640A>T
c.1770A>T (p.Ile590=)
c.804A>T (p.Ile268=)
18g.53207795_53207796dupCA2304037594DCCc.1839_1840dup (p.Thr614LysfsTer?)
c.1640_1641dup
c.1770_1771dup (p.Thr591LysfsTer?)
c.804_805dup (p.Thr269LysfsTer?)
 dbSNP
18g.53207796A>CCA402518293DCCc.1840A>C (p.Thr614Pro)
c.1641A>C
c.1771A>C (p.Thr591Pro)
c.805A>C (p.Thr269Pro)
18g.53207796A>GCA402518294DCCc.1840A>G (p.Thr614Ala)
c.1641A>G
c.1771A>G (p.Thr591Ala)
c.805A>G (p.Thr269Ala)
18g.53207796A>TCA402518295DCCc.1840A>T (p.Thr614Ser)
c.1641A>T
c.1771A>T (p.Thr591Ser)
c.805A>T (p.Thr269Ser)
18g.53207797C>ACA402518296DCCc.1841C>A (p.Thr614Lys)
c.1642C>A
c.1772C>A (p.Thr591Lys)
c.806C>A (p.Thr269Lys)
18g.53207797C=CA2304037597DCCc.1841C= (p.Thr614=)
c.1642C=
c.1772C= (p.Thr591=)
c.806C= (p.Thr269=)
18g.53207797C>GCA402518297DCCc.1841C>G (p.Thr614Arg)
c.1642C>G
c.1772C>G (p.Thr591Arg)
c.806C>G (p.Thr269Arg)
18g.53207797C>TCA402518298DCCc.1841C>T (p.Thr614Ile)
c.1642C>T
c.1772C>T (p.Thr591Ile)
c.806C>T (p.Thr269Ile)
 dbSNP
18g.53207798A=CA2304037599DCCc.1842A= (p.Thr614=)
c.1643A=
c.1773A= (p.Thr591=)
c.807A= (p.Thr269=)
18g.53207798A>CCA503971911DCCc.1842A>C (p.Thr614=)
c.1643A>C
c.1773A>C (p.Thr591=)
c.807A>C (p.Thr269=)
18g.53207798A>GCA503971912DCCc.1842A>G (p.Thr614=)
c.1643A>G
c.1773A>G (p.Thr591=)
c.807A>G (p.Thr269=)
 gnomAD v4
18g.53207798A>TCA503971913DCCc.1842A>T (p.Thr614=)
c.1643A>T
c.1773A>T (p.Thr591=)
c.807A>T (p.Thr269=)

Number of alleles fetched