Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
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)
2g.98396767G>ACA1794045CNGA3c.1597G>A (p.Asp533Asn)
c.1609G>A (p.Asp537Asn)
c.1543G>A (p.Asp515Asn)
c.1708G>A (p.Asp570Asn)
c.1762G>A (p.Asp588Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396767G>CCA1794046CNGA3c.1597G>C (p.Asp533His)
c.1609G>C (p.Asp537His)
c.1543G>C (p.Asp515His)
c.1708G>C (p.Asp570His)
c.1762G>C (p.Asp588His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396767G=CA1273420058CNGA3c.1597G= (p.Asp533=)
c.1609G= (p.Asp537=)
c.1543G= (p.Asp515=)
c.1708G= (p.Asp570=)
c.1762G= (p.Asp588=)
2g.98396767G>TCA347833885CNGA3c.1597G>T (p.Asp533Tyr)
c.1609G>T (p.Asp537Tyr)
c.1543G>T (p.Asp515Tyr)
c.1708G>T (p.Asp570Tyr)
c.1762G>T (p.Asp588Tyr)
2g.98396768A=CA1273420059CNGA3c.1598A= (p.Asp533=)
c.1610A= (p.Asp537=)
c.1544A= (p.Asp515=)
c.1709A= (p.Asp570=)
c.1763A= (p.Asp588=)
2g.98396768A>CCA347833886CNGA3c.1598A>C (p.Asp533Ala)
c.1610A>C (p.Asp537Ala)
c.1544A>C (p.Asp515Ala)
c.1709A>C (p.Asp570Ala)
c.1763A>C (p.Asp588Ala)
2g.98396768A>GCA347833887CNGA3c.1598A>G (p.Asp533Gly)
c.1610A>G (p.Asp537Gly)
c.1544A>G (p.Asp515Gly)
c.1709A>G (p.Asp570Gly)
c.1763A>G (p.Asp588Gly)
2g.98396768A>TCA1794047CNGA3c.1598A>T (p.Asp533Val)
c.1610A>T (p.Asp537Val)
c.1544A>T (p.Asp515Val)
c.1709A>T (p.Asp570Val)
c.1763A>T (p.Asp588Val)
 dbSNP ExAC gnomAD v4
2g.98396769T>ACA347833888CNGA3c.1599T>A (p.Asp533Glu)
c.1611T>A (p.Asp537Glu)
c.1545T>A (p.Asp515Glu)
c.1710T>A (p.Asp570Glu)
c.1764T>A (p.Asp588Glu)
2g.98396769T>CCA427820223CNGA3c.1599T>C (p.Asp533=)
c.1611T>C (p.Asp537=)
c.1545T>C (p.Asp515=)
c.1710T>C (p.Asp570=)
c.1764T>C (p.Asp588=)
 gnomAD v4
2g.98396769T>GCA347833889CNGA3c.1599T>G (p.Asp533Glu)
c.1611T>G (p.Asp537Glu)
c.1545T>G (p.Asp515Glu)
c.1710T>G (p.Asp570Glu)
c.1764T>G (p.Asp588Glu)
2g.98396770G>ACA347833890CNGA3c.1600G>A (p.Gly534Arg)
c.1612G>A (p.Gly538Arg)
c.1546G>A (p.Gly516Arg)
c.1711G>A (p.Gly571Arg)
c.1765G>A (p.Gly589Arg)
2g.98396770G>CCA347833891CNGA3c.1600G>C (p.Gly534Arg)
c.1612G>C (p.Gly538Arg)
c.1546G>C (p.Gly516Arg)
c.1711G>C (p.Gly571Arg)
c.1765G>C (p.Gly589Arg)
2g.98396770G>TCA347833892CNGA3c.1600G>T (p.Gly534Trp)
c.1612G>T (p.Gly538Trp)
c.1546G>T (p.Gly516Trp)
c.1711G>T (p.Gly571Trp)
c.1765G>T (p.Gly589Trp)
2g.98396773dupCA2660313271CNGA3c.1603dup (p.Val535GlyfsTer?)
c.1615dup (p.Val539GlyfsTer?)
c.1549dup (p.Val517GlyfsTer?)
c.1714dup (p.Val572GlyfsTer?)
c.1768dup (p.Val590GlyfsTer?)
 gnomAD v4
2g.98396771G>ACA347833894CNGA3c.1601G>A (p.Gly534Glu)
c.1613G>A (p.Gly538Glu)
c.1547G>A (p.Gly516Glu)
c.1712G>A (p.Gly571Glu)
c.1766G>A (p.Gly589Glu)
 gnomAD v4
2g.98396771G>CCA347833895CNGA3c.1601G>C (p.Gly534Ala)
c.1613G>C (p.Gly538Ala)
c.1547G>C (p.Gly516Ala)
c.1712G>C (p.Gly571Ala)
c.1766G>C (p.Gly589Ala)
 gnomAD v4
2g.98396771G>TCA347833893CNGA3c.1601G>T (p.Gly534Val)
c.1613G>T (p.Gly538Val)
c.1547G>T (p.Gly516Val)
c.1712G>T (p.Gly571Val)
c.1766G>T (p.Gly589Val)
2g.98396772G>ACA427820232CNGA3c.1602G>A (p.Gly534=)
c.1614G>A (p.Gly538=)
c.1548G>A (p.Gly516=)
c.1713G>A (p.Gly571=)
c.1767G>A (p.Gly589=)
 gnomAD v4 COSMIC
2g.98396772G>CCA427820227CNGA3c.1602G>C (p.Gly534=)
c.1614G>C (p.Gly538=)
c.1548G>C (p.Gly516=)
c.1713G>C (p.Gly571=)
c.1767G>C (p.Gly589=)
2g.98396772G>TCA427820229CNGA3c.1602G>T (p.Gly534=)
c.1614G>T (p.Gly538=)
c.1548G>T (p.Gly516=)
c.1713G>T (p.Gly571=)
c.1767G>T (p.Gly589=)
2g.98396773G>ACA347833896CNGA3c.1603G>A (p.Val535Ile)
c.1615G>A (p.Val539Ile)
c.1549G>A (p.Val517Ile)
c.1714G>A (p.Val572Ile)
c.1768G>A (p.Val590Ile)
2g.98396773G>CCA347833897CNGA3c.1603G>C (p.Val535Leu)
c.1615G>C (p.Val539Leu)
c.1549G>C (p.Val517Leu)
c.1714G>C (p.Val572Leu)
c.1768G>C (p.Val590Leu)
2g.98396773G>TCA347833898CNGA3c.1603G>T (p.Val535Phe)
c.1615G>T (p.Val539Phe)
c.1549G>T (p.Val517Phe)
c.1714G>T (p.Val572Phe)
c.1768G>T (p.Val590Phe)
2g.98396774T>ACA347833899CNGA3c.1604T>A (p.Val535Asp)
c.1616T>A (p.Val539Asp)
c.1550T>A (p.Val517Asp)
c.1715T>A (p.Val572Asp)
c.1769T>A (p.Val590Asp)
2g.98396774T>CCA347833900CNGA3c.1604T>C (p.Val535Ala)
c.1616T>C (p.Val539Ala)
c.1550T>C (p.Val517Ala)
c.1715T>C (p.Val572Ala)
c.1769T>C (p.Val590Ala)
2g.98396774T>GCA347833901CNGA3c.1604T>G (p.Val535Gly)
c.1616T>G (p.Val539Gly)
c.1550T>G (p.Val517Gly)
c.1715T>G (p.Val572Gly)
c.1769T>G (p.Val590Gly)
2g.98396775C>ACA427820239CNGA3c.1605C>A (p.Val535=)
c.1617C>A (p.Val539=)
c.1551C>A (p.Val517=)
c.1716C>A (p.Val572=)
c.1770C>A (p.Val590=)
2g.98396775C=CA1273420060CNGA3c.1605C= (p.Val535=)
c.1617C= (p.Val539=)
c.1551C= (p.Val517=)
c.1716C= (p.Val572=)
c.1770C= (p.Val590=)
2g.98396775C>GCA427820240CNGA3c.1605C>G (p.Val535=)
c.1617C>G (p.Val539=)
c.1551C>G (p.Val517=)
c.1716C>G (p.Val572=)
c.1770C>G (p.Val590=)
2g.98396775C>TCA52635889CNGA3c.1605C>T (p.Val535=)
c.1617C>T (p.Val539=)
c.1551C>T (p.Val517=)
c.1716C>T (p.Val572=)
c.1770C>T (p.Val590=)
 dbSNP gnomAD v4
2g.98396776A>CCA347833902CNGA3c.1606A>C (p.Thr536Pro)
c.1618A>C (p.Thr540Pro)
c.1552A>C (p.Thr518Pro)
c.1717A>C (p.Thr573Pro)
c.1771A>C (p.Thr591Pro)
2g.98396776A>GCA347833903CNGA3c.1606A>G (p.Thr536Ala)
c.1618A>G (p.Thr540Ala)
c.1552A>G (p.Thr518Ala)
c.1717A>G (p.Thr573Ala)
c.1771A>G (p.Thr591Ala)
2g.98396776A>TCA347833904CNGA3c.1606A>T (p.Thr536Ser)
c.1618A>T (p.Thr540Ser)
c.1552A>T (p.Thr518Ser)
c.1717A>T (p.Thr573Ser)
c.1771A>T (p.Thr591Ser)
2g.98396776_98396777delinsACCA1273420061CNGA3c.1606_1607delinsAC (p.Thr536=)
c.1618_1619delinsAC (p.Thr540=)
c.1552_1553delinsAC (p.Thr518=)
c.1717_1718delinsAC (p.Thr573=)
c.1771_1772delinsAC (p.Thr591=)
2g.98396777C>ACA347833905CNGA3c.1607C>A (p.Thr536Asn)
c.1619C>A (p.Thr540Asn)
c.1553C>A (p.Thr518Asn)
c.1718C>A (p.Thr573Asn)
c.1772C>A (p.Thr591Asn)
2g.98396777C=CA1273420062CNGA3c.1607C= (p.Thr536=)
c.1619C= (p.Thr540=)
c.1553C= (p.Thr518=)
c.1718C= (p.Thr573=)
c.1772C= (p.Thr591=)
2g.98396777C>GCA347833906CNGA3c.1607C>G (p.Thr536Ser)
c.1619C>G (p.Thr540Ser)
c.1553C>G (p.Thr518Ser)
c.1718C>G (p.Thr573Ser)
c.1772C>G (p.Thr591Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.98396777C>TCA347833907CNGA3c.1607C>T (p.Thr536Ile)
c.1619C>T (p.Thr540Ile)
c.1553C>T (p.Thr518Ile)
c.1718C>T (p.Thr573Ile)
c.1772C>T (p.Thr591Ile)
2g.98396779delCA535103982CNGA3c.1609del (p.Gln537SerfsTer17)
c.1621del (p.Gln541SerfsTer17)
c.1555del (p.Gln519SerfsTer17)
c.1720del (p.Gln574SerfsTer17)
c.1774del (p.Gln592SerfsTer17)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98396778C>ACA427820247CNGA3c.1608C>A (p.Thr536=)
c.1620C>A (p.Thr540=)
c.1554C>A (p.Thr518=)
c.1719C>A (p.Thr573=)
c.1773C>A (p.Thr591=)
2g.98396778C>GCA427820248CNGA3c.1608C>G (p.Thr536=)
c.1620C>G (p.Thr540=)
c.1554C>G (p.Thr518=)
c.1719C>G (p.Thr573=)
c.1773C>G (p.Thr591=)
 ClinVar dbSNP
2g.98396778C>TCA427820249CNGA3c.1608C>T (p.Thr536=)
c.1620C>T (p.Thr540=)
c.1554C>T (p.Thr518=)
c.1719C>T (p.Thr573=)
c.1773C>T (p.Thr591=)
2g.98396779C>ACA347833909CNGA3c.1609C>A (p.Gln537Lys)
c.1621C>A (p.Gln541Lys)
c.1555C>A (p.Gln519Lys)
c.1720C>A (p.Gln574Lys)
c.1774C>A (p.Gln592Lys)
2g.98396779C>GCA347833910CNGA3c.1609C>G (p.Gln537Glu)
c.1621C>G (p.Gln541Glu)
c.1555C>G (p.Gln519Glu)
c.1720C>G (p.Gln574Glu)
c.1774C>G (p.Gln592Glu)
2g.98396779C>TCA347833908CNGA3c.1609C>T (p.Gln537Ter)
c.1621C>T (p.Gln541Ter)
c.1555C>T (p.Gln519Ter)
c.1720C>T (p.Gln574Ter)
c.1774C>T (p.Gln592Ter)
2g.98396780A>CCA347833911CNGA3c.1610A>C (p.Gln537Pro)
c.1622A>C (p.Gln541Pro)
c.1556A>C (p.Gln519Pro)
c.1721A>C (p.Gln574Pro)
c.1775A>C (p.Gln592Pro)
2g.98396780A>GCA347833912CNGA3c.1610A>G (p.Gln537Arg)
c.1622A>G (p.Gln541Arg)
c.1556A>G (p.Gln519Arg)
c.1721A>G (p.Gln574Arg)
c.1775A>G (p.Gln592Arg)
2g.98396780A>TCA347833913CNGA3c.1610A>T (p.Gln537Leu)
c.1622A>T (p.Gln541Leu)
c.1556A>T (p.Gln519Leu)
c.1721A>T (p.Gln574Leu)
c.1775A>T (p.Gln592Leu)
2g.98396781G>ACA427820256CNGA3c.1611G>A (p.Gln537=)
c.1623G>A (p.Gln541=)
c.1557G>A (p.Gln519=)
c.1722G>A (p.Gln574=)
c.1776G>A (p.Gln592=)
 ClinVar dbSNP
2g.98396781G>CCA347833914CNGA3c.1611G>C (p.Gln537His)
c.1623G>C (p.Gln541His)
c.1557G>C (p.Gln519His)
c.1722G>C (p.Gln574His)
c.1776G>C (p.Gln592His)
 gnomAD v4
2g.98396781G=CA1273420063CNGA3c.1611G= (p.Gln537=)
c.1623G= (p.Gln541=)
c.1557G= (p.Gln519=)
c.1722G= (p.Gln574=)
c.1776G= (p.Gln592=)
2g.98396781G>TCA347833915CNGA3c.1611G>T (p.Gln537His)
c.1623G>T (p.Gln541His)
c.1557G>T (p.Gln519His)
c.1722G>T (p.Gln574His)
c.1776G>T (p.Gln592His)
2g.98396782T>ACA347833918CNGA3c.1612T>A (p.Phe538Ile)
c.1624T>A (p.Phe542Ile)
c.1558T>A (p.Phe520Ile)
c.1723T>A (p.Phe575Ile)
c.1777T>A (p.Phe593Ile)
 gnomAD v4
2g.98396782T>CCA347833916CNGA3c.1612T>C (p.Phe538Leu)
c.1624T>C (p.Phe542Leu)
c.1558T>C (p.Phe520Leu)
c.1723T>C (p.Phe575Leu)
c.1777T>C (p.Phe593Leu)
2g.98396782T>GCA347833917CNGA3c.1612T>G (p.Phe538Val)
c.1624T>G (p.Phe542Val)
c.1558T>G (p.Phe520Val)
c.1723T>G (p.Phe575Val)
c.1777T>G (p.Phe593Val)
2g.98396783T>ACA347833919CNGA3c.1613T>A (p.Phe538Tyr)
c.1625T>A (p.Phe542Tyr)
c.1559T>A (p.Phe520Tyr)
c.1724T>A (p.Phe575Tyr)
c.1778T>A (p.Phe593Tyr)
2g.98396783T>CCA347833920CNGA3c.1613T>C (p.Phe538Ser)
c.1625T>C (p.Phe542Ser)
c.1559T>C (p.Phe520Ser)
c.1724T>C (p.Phe575Ser)
c.1778T>C (p.Phe593Ser)
 gnomAD v4
2g.98396783T>GCA347833921CNGA3c.1613T>G (p.Phe538Cys)
c.1625T>G (p.Phe542Cys)
c.1559T>G (p.Phe520Cys)
c.1724T>G (p.Phe575Cys)
c.1778T>G (p.Phe593Cys)
2g.98396784C>ACA347833922CNGA3c.1614C>A (p.Phe538Leu)
c.1626C>A (p.Phe542Leu)
c.1560C>A (p.Phe520Leu)
c.1725C>A (p.Phe575Leu)
c.1779C>A (p.Phe593Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.98396784C=CA1273420064CNGA3c.1614C= (p.Phe538=)
c.1626C= (p.Phe542=)
c.1560C= (p.Phe520=)
c.1725C= (p.Phe575=)
c.1779C= (p.Phe593=)
2g.98396784C>GCA347833923CNGA3c.1614C>G (p.Phe538Leu)
c.1626C>G (p.Phe542Leu)
c.1560C>G (p.Phe520Leu)
c.1725C>G (p.Phe575Leu)
c.1779C>G (p.Phe593Leu)
2g.98396784C>TCA1794048CNGA3c.1614C>T (p.Phe538=)
c.1626C>T (p.Phe542=)
c.1560C>T (p.Phe520=)
c.1725C>T (p.Phe575=)
c.1779C>T (p.Phe593=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396785G>ACA1794049CNGA3c.1615G>A (p.Val539Met)
c.1627G>A (p.Val543Met)
c.1561G>A (p.Val521Met)
c.1726G>A (p.Val576Met)
c.1780G>A (p.Val594Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396785G>CCA347833925CNGA3c.1615G>C (p.Val539Leu)
c.1627G>C (p.Val543Leu)
c.1561G>C (p.Val521Leu)
c.1726G>C (p.Val576Leu)
c.1780G>C (p.Val594Leu)
2g.98396785G=CA1273420065CNGA3c.1615G= (p.Val539=)
c.1627G= (p.Val543=)
c.1561G= (p.Val521=)
c.1726G= (p.Val576=)
c.1780G= (p.Val594=)
2g.98396785G>TCA347833924CNGA3c.1615G>T (p.Val539Leu)
c.1627G>T (p.Val543Leu)
c.1561G>T (p.Val521Leu)
c.1726G>T (p.Val576Leu)
c.1780G>T (p.Val594Leu)
2g.98396786T>ACA347833927CNGA3c.1616T>A (p.Val539Glu)
c.1628T>A (p.Val543Glu)
c.1562T>A (p.Val521Glu)
c.1727T>A (p.Val576Glu)
c.1781T>A (p.Val594Glu)
2g.98396786T>CCA1794050CNGA3c.1616T>C (p.Val539Ala)
c.1628T>C (p.Val543Ala)
c.1562T>C (p.Val521Ala)
c.1727T>C (p.Val576Ala)
c.1781T>C (p.Val594Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396786T>GCA347833926CNGA3c.1616T>G (p.Val539Gly)
c.1628T>G (p.Val543Gly)
c.1562T>G (p.Val521Gly)
c.1727T>G (p.Val576Gly)
c.1781T>G (p.Val594Gly)
2g.98396786T=CA1273420066CNGA3c.1616T= (p.Val539=)
c.1628T= (p.Val543=)
c.1562T= (p.Val521=)
c.1727T= (p.Val576=)
c.1781T= (p.Val594=)
2g.98396787G>ACA1794051CNGA3c.1617G>A (p.Val539=)
c.1629G>A (p.Val543=)
c.1563G>A (p.Val521=)
c.1728G>A (p.Val576=)
c.1782G>A (p.Val594=)
 dbSNP ExAC gnomAD v2
2g.98396787G>CCA1794052CNGA3c.1617G>C (p.Val539=)
c.1629G>C (p.Val543=)
c.1563G>C (p.Val521=)
c.1728G>C (p.Val576=)
c.1782G>C (p.Val594=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396787G=CA1273420067CNGA3c.1617G= (p.Val539=)
c.1629G= (p.Val543=)
c.1563G= (p.Val521=)
c.1728G= (p.Val576=)
c.1782G= (p.Val594=)
2g.98396787G>TCA427820275CNGA3c.1617G>T (p.Val539=)
c.1629G>T (p.Val543=)
c.1563G>T (p.Val521=)
c.1728G>T (p.Val576=)
c.1782G>T (p.Val594=)
2g.98396788G>ACA1794053CNGA3c.1618G>A (p.Val540Ile)
c.1630G>A (p.Val544Ile)
c.1564G>A (p.Val522Ile)
c.1729G>A (p.Val577Ile)
c.1783G>A (p.Val595Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396788G>CCA347833928CNGA3c.1618G>C (p.Val540Leu)
c.1630G>C (p.Val544Leu)
c.1564G>C (p.Val522Leu)
c.1729G>C (p.Val577Leu)
c.1783G>C (p.Val595Leu)
 dbSNP
2g.98396788G=CA1273420068CNGA3c.1618G= (p.Val540=)
c.1630G= (p.Val544=)
c.1564G= (p.Val522=)
c.1729G= (p.Val577=)
c.1783G= (p.Val595=)
2g.98396788G>TCA347833929CNGA3c.1618G>T (p.Val540Phe)
c.1630G>T (p.Val544Phe)
c.1564G>T (p.Val522Phe)
c.1729G>T (p.Val577Phe)
c.1783G>T (p.Val595Phe)
2g.98396789T>ACA347833930CNGA3c.1619T>A (p.Val540Asp)
c.1631T>A (p.Val544Asp)
c.1565T>A (p.Val522Asp)
c.1730T>A (p.Val577Asp)
c.1784T>A (p.Val595Asp)
2g.98396789T>CCA347833931CNGA3c.1619T>C (p.Val540Ala)
c.1631T>C (p.Val544Ala)
c.1565T>C (p.Val522Ala)
c.1730T>C (p.Val577Ala)
c.1784T>C (p.Val595Ala)
2g.98396789T>GCA347833932CNGA3c.1619T>G (p.Val540Gly)
c.1631T>G (p.Val544Gly)
c.1565T>G (p.Val522Gly)
c.1730T>G (p.Val577Gly)
c.1784T>G (p.Val595Gly)
2g.98396790C>ACA427820283CNGA3c.1620C>A (p.Val540=)
c.1632C>A (p.Val544=)
c.1566C>A (p.Val522=)
c.1731C>A (p.Val577=)
c.1785C>A (p.Val595=)
2g.98396790C>GCA427820281CNGA3c.1620C>G (p.Val540=)
c.1632C>G (p.Val544=)
c.1566C>G (p.Val522=)
c.1731C>G (p.Val577=)
c.1785C>G (p.Val595=)
2g.98396790C>TCA427820279CNGA3c.1620C>T (p.Val540=)
c.1632C>T (p.Val544=)
c.1566C>T (p.Val522=)
c.1731C>T (p.Val577=)
c.1785C>T (p.Val595=)
 COSMIC
2g.98396791C>ACA347833933CNGA3c.1621C>A (p.Leu541Ile)
c.1633C>A (p.Leu545Ile)
c.1567C>A (p.Leu523Ile)
c.1732C>A (p.Leu578Ile)
c.1786C>A (p.Leu596Ile)
2g.98396791C>GCA347833934CNGA3c.1621C>G (p.Leu541Val)
c.1633C>G (p.Leu545Val)
c.1567C>G (p.Leu523Val)
c.1732C>G (p.Leu578Val)
c.1786C>G (p.Leu596Val)
2g.98396791C>TCA347833935CNGA3c.1621C>T (p.Leu541Phe)
c.1633C>T (p.Leu545Phe)
c.1567C>T (p.Leu523Phe)
c.1732C>T (p.Leu578Phe)
c.1786C>T (p.Leu596Phe)
 gnomAD v4
2g.98396792T>ACA347833938CNGA3c.1622T>A (p.Leu541His)
c.1634T>A (p.Leu545His)
c.1568T>A (p.Leu523His)
c.1733T>A (p.Leu578His)
c.1787T>A (p.Leu596His)
2g.98396792T>CCA347833936CNGA3c.1622T>C (p.Leu541Pro)
c.1634T>C (p.Leu545Pro)
c.1568T>C (p.Leu523Pro)
c.1733T>C (p.Leu578Pro)
c.1787T>C (p.Leu596Pro)
2g.98396792T>GCA347833937CNGA3c.1622T>G (p.Leu541Arg)
c.1634T>G (p.Leu545Arg)
c.1568T>G (p.Leu523Arg)
c.1733T>G (p.Leu578Arg)
c.1787T>G (p.Leu596Arg)
2g.98396793C>ACA427820284CNGA3c.1623C>A (p.Leu541=)
c.1635C>A (p.Leu545=)
c.1569C>A (p.Leu523=)
c.1734C>A (p.Leu578=)
c.1788C>A (p.Leu596=)
2g.98396793C>GCA427820286CNGA3c.1623C>G (p.Leu541=)
c.1635C>G (p.Leu545=)
c.1569C>G (p.Leu523=)
c.1734C>G (p.Leu578=)
c.1788C>G (p.Leu596=)
 COSMIC
2g.98396793C>TCA427820285CNGA3c.1623C>T (p.Leu541=)
c.1635C>T (p.Leu545=)
c.1569C>T (p.Leu523=)
c.1734C>T (p.Leu578=)
c.1788C>T (p.Leu596=)
 gnomAD v4
2g.98396797_98396805delCA2586969731CNGA3c.1627_1635del (p.Asp543_Ser545del)
c.1639_1647del (p.Asp547_Ser549del)
c.1573_1581del (p.Asp525_Ser527del)
c.1738_1746del (p.Asp580_Ser582del)
c.1792_1800del (p.Asp598_Ser600del)
2g.98396794A=CA1273420069CNGA3c.1624A= (p.Ser542=)
c.1636A= (p.Ser546=)
c.1570A= (p.Ser524=)
c.1735A= (p.Ser579=)
c.1789A= (p.Ser597=)
2g.98396794A>CCA347833939CNGA3c.1624A>C (p.Ser542Arg)
c.1636A>C (p.Ser546Arg)
c.1570A>C (p.Ser524Arg)
c.1735A>C (p.Ser579Arg)
c.1789A>C (p.Ser597Arg)
2g.98396794A>GCA52635912CNGA3c.1624A>G (p.Ser542Gly)
c.1636A>G (p.Ser546Gly)
c.1570A>G (p.Ser524Gly)
c.1735A>G (p.Ser579Gly)
c.1789A>G (p.Ser597Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.98396794A>TCA347833940CNGA3c.1624A>T (p.Ser542Cys)
c.1636A>T (p.Ser546Cys)
c.1570A>T (p.Ser524Cys)
c.1735A>T (p.Ser579Cys)
c.1789A>T (p.Ser597Cys)
2g.98396795G>ACA347833941CNGA3c.1625G>A (p.Ser542Asn)
c.1637G>A (p.Ser546Asn)
c.1571G>A (p.Ser524Asn)
c.1736G>A (p.Ser579Asn)
c.1790G>A (p.Ser597Asn)
2g.98396795G>CCA347833942CNGA3c.1625G>C (p.Ser542Thr)
c.1637G>C (p.Ser546Thr)
c.1571G>C (p.Ser524Thr)
c.1736G>C (p.Ser579Thr)
c.1790G>C (p.Ser597Thr)
2g.98396795G=CA1273420070CNGA3c.1625G= (p.Ser542=)
c.1637G= (p.Ser546=)
c.1571G= (p.Ser524=)
c.1736G= (p.Ser579=)
c.1790G= (p.Ser597=)
2g.98396795G>TCA347833943CNGA3c.1625G>T (p.Ser542Ile)
c.1637G>T (p.Ser546Ile)
c.1571G>T (p.Ser524Ile)
c.1736G>T (p.Ser579Ile)
c.1790G>T (p.Ser597Ile)
 dbSNP gnomAD v2
2g.98396796C>ACA347833944CNGA3c.1626C>A (p.Ser542Arg)
c.1638C>A (p.Ser546Arg)
c.1572C>A (p.Ser524Arg)
c.1737C>A (p.Ser579Arg)
c.1791C>A (p.Ser597Arg)
2g.98396796C=CA1273420071CNGA3c.1626C= (p.Ser542=)
c.1638C= (p.Ser546=)
c.1572C= (p.Ser524=)
c.1737C= (p.Ser579=)
c.1791C= (p.Ser597=)
2g.98396796C>GCA347833945CNGA3c.1626C>G (p.Ser542Arg)
c.1638C>G (p.Ser546Arg)
c.1572C>G (p.Ser524Arg)
c.1737C>G (p.Ser579Arg)
c.1791C>G (p.Ser597Arg)
2g.98396796C>TCA1794054CNGA3c.1626C>T (p.Ser542=)
c.1638C>T (p.Ser546=)
c.1572C>T (p.Ser524=)
c.1737C>T (p.Ser579=)
c.1791C>T (p.Ser597=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396797delCA2660313272CNGA3c.1627del (p.Asp543MetfsTer11)
c.1639del (p.Asp547MetfsTer11)
c.1573del (p.Asp525MetfsTer11)
c.1738del (p.Asp580MetfsTer11)
c.1792del (p.Asp598MetfsTer11)
 gnomAD v4
2g.98396797G>ACA1794055CNGA3c.1627G>A (p.Asp543Asn)
c.1639G>A (p.Asp547Asn)
c.1573G>A (p.Asp525Asn)
c.1738G>A (p.Asp580Asn)
c.1792G>A (p.Asp598Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396797G>CCA347833946CNGA3c.1627G>C (p.Asp543His)
c.1639G>C (p.Asp547His)
c.1573G>C (p.Asp525His)
c.1738G>C (p.Asp580His)
c.1792G>C (p.Asp598His)
2g.98396797G=CA1273420072CNGA3c.1627G= (p.Asp543=)
c.1639G= (p.Asp547=)
c.1573G= (p.Asp525=)
c.1738G= (p.Asp580=)
c.1792G= (p.Asp598=)
2g.98396797G>TCA347833947CNGA3c.1627G>T (p.Asp543Tyr)
c.1639G>T (p.Asp547Tyr)
c.1573G>T (p.Asp525Tyr)
c.1738G>T (p.Asp580Tyr)
c.1792G>T (p.Asp598Tyr)
 dbSNP
2g.98396798A>CCA347833949CNGA3c.1628A>C (p.Asp543Ala)
c.1640A>C (p.Asp547Ala)
c.1574A>C (p.Asp525Ala)
c.1739A>C (p.Asp580Ala)
c.1793A>C (p.Asp598Ala)
2g.98396798A>GCA347833950CNGA3c.1628A>G (p.Asp543Gly)
c.1640A>G (p.Asp547Gly)
c.1574A>G (p.Asp525Gly)
c.1739A>G (p.Asp580Gly)
c.1793A>G (p.Asp598Gly)
2g.98396798A>TCA347833948CNGA3c.1628A>T (p.Asp543Val)
c.1640A>T (p.Asp547Val)
c.1574A>T (p.Asp525Val)
c.1739A>T (p.Asp580Val)
c.1793A>T (p.Asp598Val)
2g.98396799T>ACA52635917CNGA3c.1629T>A (p.Asp543Glu)
c.1641T>A (p.Asp547Glu)
c.1575T>A (p.Asp525Glu)
c.1740T>A (p.Asp580Glu)
c.1794T>A (p.Asp598Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.98396799T>CCA1794056CNGA3c.1629T>C (p.Asp543=)
c.1641T>C (p.Asp547=)
c.1575T>C (p.Asp525=)
c.1740T>C (p.Asp580=)
c.1794T>C (p.Asp598=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396799T>GCA347833951CNGA3c.1629T>G (p.Asp543Glu)
c.1641T>G (p.Asp547Glu)
c.1575T>G (p.Asp525Glu)
c.1740T>G (p.Asp580Glu)
c.1794T>G (p.Asp598Glu)
2g.98396799T=CA1273420073CNGA3c.1629T= (p.Asp543=)
c.1641T= (p.Asp547=)
c.1575T= (p.Asp525=)
c.1740T= (p.Asp580=)
c.1794T= (p.Asp598=)
2g.98396800G>ACA347833952CNGA3c.1630G>A (p.Gly544Ser)
c.1642G>A (p.Gly548Ser)
c.1576G>A (p.Gly526Ser)
c.1741G>A (p.Gly581Ser)
c.1795G>A (p.Gly599Ser)
2g.98396800G>CCA347833953CNGA3c.1630G>C (p.Gly544Arg)
c.1642G>C (p.Gly548Arg)
c.1576G>C (p.Gly526Arg)
c.1741G>C (p.Gly581Arg)
c.1795G>C (p.Gly599Arg)
2g.98396800G>TCA347833954CNGA3c.1630G>T (p.Gly544Cys)
c.1642G>T (p.Gly548Cys)
c.1576G>T (p.Gly526Cys)
c.1741G>T (p.Gly581Cys)
c.1795G>T (p.Gly599Cys)
 COSMIC
2g.98396801G>ACA347833955CNGA3c.1631G>A (p.Gly544Asp)
c.1643G>A (p.Gly548Asp)
c.1577G>A (p.Gly526Asp)
c.1742G>A (p.Gly581Asp)
c.1796G>A (p.Gly599Asp)
 gnomAD v4
2g.98396801G>CCA347833956CNGA3c.1631G>C (p.Gly544Ala)
c.1643G>C (p.Gly548Ala)
c.1577G>C (p.Gly526Ala)
c.1742G>C (p.Gly581Ala)
c.1796G>C (p.Gly599Ala)
2g.98396801G>TCA347833957CNGA3c.1631G>T (p.Gly544Val)
c.1643G>T (p.Gly548Val)
c.1577G>T (p.Gly526Val)
c.1742G>T (p.Gly581Val)
c.1796G>T (p.Gly599Val)
2g.98396802C>ACA427820297CNGA3c.1632C>A (p.Gly544=)
c.1644C>A (p.Gly548=)
c.1578C>A (p.Gly526=)
c.1743C>A (p.Gly581=)
c.1797C>A (p.Gly599=)
 dbSNP
2g.98396802C=CA1273420074CNGA3c.1632C= (p.Gly544=)
c.1644C= (p.Gly548=)
c.1578C= (p.Gly526=)
c.1743C= (p.Gly581=)
c.1797C= (p.Gly599=)
2g.98396802C>GCA427820298CNGA3c.1632C>G (p.Gly544=)
c.1644C>G (p.Gly548=)
c.1578C>G (p.Gly526=)
c.1743C>G (p.Gly581=)
c.1797C>G (p.Gly599=)
2g.98396802C>TCA427820299CNGA3c.1632C>T (p.Gly544=)
c.1644C>T (p.Gly548=)
c.1578C>T (p.Gly526=)
c.1743C>T (p.Gly581=)
c.1797C>T (p.Gly599=)
2g.98396803A>CCA347833958CNGA3c.1633A>C (p.Ser545Arg)
c.1645A>C (p.Ser549Arg)
c.1579A>C (p.Ser527Arg)
c.1744A>C (p.Ser582Arg)
c.1798A>C (p.Ser600Arg)
2g.98396803A>GCA347833959CNGA3c.1633A>G (p.Ser545Gly)
c.1645A>G (p.Ser549Gly)
c.1579A>G (p.Ser527Gly)
c.1744A>G (p.Ser582Gly)
c.1798A>G (p.Ser600Gly)
2g.98396803A>TCA347833960CNGA3c.1633A>T (p.Ser545Cys)
c.1645A>T (p.Ser549Cys)
c.1579A>T (p.Ser527Cys)
c.1744A>T (p.Ser582Cys)
c.1798A>T (p.Ser600Cys)
 gnomAD v4
2g.98396803dupCA2660313273CNGA3c.1633dup (p.Ser545LysfsTer?)
c.1645dup (p.Ser549LysfsTer?)
c.1579dup (p.Ser527LysfsTer?)
c.1744dup (p.Ser582LysfsTer?)
c.1798dup (p.Ser600LysfsTer?)
 gnomAD v4
2g.98396804G>ACA347833961CNGA3c.1634G>A (p.Ser545Asn)
c.1646G>A (p.Ser549Asn)
c.1580G>A (p.Ser527Asn)
c.1745G>A (p.Ser582Asn)
c.1799G>A (p.Ser600Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.98396804G>CCA347833962CNGA3c.1634G>C (p.Ser545Thr)
c.1646G>C (p.Ser549Thr)
c.1580G>C (p.Ser527Thr)
c.1745G>C (p.Ser582Thr)
c.1799G>C (p.Ser600Thr)
 gnomAD v4
2g.98396804G=CA1273420075CNGA3c.1634G= (p.Ser545=)
c.1646G= (p.Ser549=)
c.1580G= (p.Ser527=)
c.1745G= (p.Ser582=)
c.1799G= (p.Ser600=)
2g.98396804G>TCA347833963CNGA3c.1634G>T (p.Ser545Ile)
c.1646G>T (p.Ser549Ile)
c.1580G>T (p.Ser527Ile)
c.1745G>T (p.Ser582Ile)
c.1799G>T (p.Ser600Ile)
2g.98396805C>ACA347833964CNGA3c.1635C>A (p.Ser545Arg)
c.1647C>A (p.Ser549Arg)
c.1581C>A (p.Ser527Arg)
c.1746C>A (p.Ser582Arg)
c.1800C>A (p.Ser600Arg)
2g.98396805C>GCA347833965CNGA3c.1635C>G (p.Ser545Arg)
c.1647C>G (p.Ser549Arg)
c.1581C>G (p.Ser527Arg)
c.1746C>G (p.Ser582Arg)
c.1800C>G (p.Ser600Arg)
2g.98396805C>TCA427819710CNGA3c.1635C>T (p.Ser545=)
c.1647C>T (p.Ser549=)
c.1581C>T (p.Ser527=)
c.1746C>T (p.Ser582=)
c.1800C>T (p.Ser600=)
2g.98396806T>ACA347833966CNGA3c.1636T>A (p.Tyr546Asn)
c.1648T>A (p.Tyr550Asn)
c.1582T>A (p.Tyr528Asn)
c.1747T>A (p.Tyr583Asn)
c.1801T>A (p.Tyr601Asn)
2g.98396806T>CCA347833967CNGA3c.1636T>C (p.Tyr546His)
c.1648T>C (p.Tyr550His)
c.1582T>C (p.Tyr528His)
c.1747T>C (p.Tyr583His)
c.1801T>C (p.Tyr601His)
2g.98396806T>GCA347833968CNGA3c.1636T>G (p.Tyr546Asp)
c.1648T>G (p.Tyr550Asp)
c.1582T>G (p.Tyr528Asp)
c.1747T>G (p.Tyr583Asp)
c.1801T>G (p.Tyr601Asp)
2g.98396807A>CCA347833969CNGA3c.1637A>C (p.Tyr546Ser)
c.1649A>C (p.Tyr550Ser)
c.1583A>C (p.Tyr528Ser)
c.1748A>C (p.Tyr583Ser)
c.1802A>C (p.Tyr601Ser)
 gnomAD v4
2g.98396807A>GCA347833970CNGA3c.1637A>G (p.Tyr546Cys)
c.1649A>G (p.Tyr550Cys)
c.1583A>G (p.Tyr528Cys)
c.1748A>G (p.Tyr583Cys)
c.1802A>G (p.Tyr601Cys)
2g.98396807A>TCA347833971CNGA3c.1637A>T (p.Tyr546Phe)
c.1649A>T (p.Tyr550Phe)
c.1583A>T (p.Tyr528Phe)
c.1748A>T (p.Tyr583Phe)
c.1802A>T (p.Tyr601Phe)
2g.98396808C>ACA347833972CNGA3c.1638C>A (p.Tyr546Ter)
c.1650C>A (p.Tyr550Ter)
c.1584C>A (p.Tyr528Ter)
c.1749C>A (p.Tyr583Ter)
c.1803C>A (p.Tyr601Ter)
2g.98396808C>GCA347833973CNGA3c.1638C>G (p.Tyr546Ter)
c.1650C>G (p.Tyr550Ter)
c.1584C>G (p.Tyr528Ter)
c.1749C>G (p.Tyr583Ter)
c.1803C>G (p.Tyr601Ter)
2g.98396808C>TCA427819718CNGA3c.1638C>T (p.Tyr546=)
c.1650C>T (p.Tyr550=)
c.1584C>T (p.Tyr528=)
c.1749C>T (p.Tyr583=)
c.1803C>T (p.Tyr601=)
2g.98396809T>ACA347833974CNGA3c.1639T>A (p.Phe547Ile)
c.1651T>A (p.Phe551Ile)
c.1585T>A (p.Phe529Ile)
c.1750T>A (p.Phe584Ile)
c.1804T>A (p.Phe602Ile)
2g.98396809T>CCA347833975CNGA3c.1639T>C (p.Phe547Leu)
c.1651T>C (p.Phe551Leu)
c.1585T>C (p.Phe529Leu)
c.1750T>C (p.Phe584Leu)
c.1804T>C (p.Phe602Leu)
2g.98396809T>GCA347833976CNGA3c.1639T>G (p.Phe547Val)
c.1651T>G (p.Phe551Val)
c.1585T>G (p.Phe529Val)
c.1750T>G (p.Phe584Val)
c.1804T>G (p.Phe602Val)
2g.98396810T>ACA347833977CNGA3c.1640T>A (p.Phe547Tyr)
c.1652T>A (p.Phe551Tyr)
c.1586T>A (p.Phe529Tyr)
c.1751T>A (p.Phe584Tyr)
c.1805T>A (p.Phe602Tyr)
2g.98396810T>CCA347833978CNGA3c.1640T>C (p.Phe547Ser)
c.1652T>C (p.Phe551Ser)
c.1586T>C (p.Phe529Ser)
c.1751T>C (p.Phe584Ser)
c.1805T>C (p.Phe602Ser)
2g.98396810T>GCA347833979CNGA3c.1640T>G (p.Phe547Cys)
c.1652T>G (p.Phe551Cys)
c.1586T>G (p.Phe529Cys)
c.1751T>G (p.Phe584Cys)
c.1805T>G (p.Phe602Cys)
 ClinVar
2g.98396811C>ACA254823CNGA3c.1641C>A (p.Phe547Leu)
c.1653C>A (p.Phe551Leu)
c.1587C>A (p.Phe529Leu)
c.1752C>A (p.Phe584Leu)
c.1806C>A (p.Phe602Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396811C=CA1273420076CNGA3c.1641C= (p.Phe547=)
c.1653C= (p.Phe551=)
c.1587C= (p.Phe529=)
c.1752C= (p.Phe584=)
c.1806C= (p.Phe602=)
2g.98396811C>GCA347833980CNGA3c.1641C>G (p.Phe547Leu)
c.1653C>G (p.Phe551Leu)
c.1587C>G (p.Phe529Leu)
c.1752C>G (p.Phe584Leu)
c.1806C>G (p.Phe602Leu)
 ClinVar dbSNP
2g.98396811C>TCA1794057CNGA3c.1641C>T (p.Phe547=)
c.1653C>T (p.Phe551=)
c.1587C>T (p.Phe529=)
c.1752C>T (p.Phe584=)
c.1806C>T (p.Phe602=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396812G>ACA1794058CNGA3c.1642G>A (p.Gly548Arg)
c.1654G>A (p.Gly552Arg)
c.1588G>A (p.Gly530Arg)
c.1753G>A (p.Gly585Arg)
c.1807G>A (p.Gly603Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396812G>CCA347833982CNGA3c.1642G>C (p.Gly548Arg)
c.1654G>C (p.Gly552Arg)
c.1588G>C (p.Gly530Arg)
c.1753G>C (p.Gly585Arg)
c.1807G>C (p.Gly603Arg)
2g.98396812G=CA1273420077CNGA3c.1642G= (p.Gly548=)
c.1654G= (p.Gly552=)
c.1588G= (p.Gly530=)
c.1753G= (p.Gly585=)
c.1807G= (p.Gly603=)
2g.98396812G>TCA347833981CNGA3c.1642G>T (p.Gly548Trp)
c.1654G>T (p.Gly552Trp)
c.1588G>T (p.Gly530Trp)
c.1753G>T (p.Gly585Trp)
c.1807G>T (p.Gly603Trp)
 ClinVar dbSNP gnomAD v4
2g.98396813G>ACA347833983CNGA3c.1643G>A (p.Gly548Glu)
c.1655G>A (p.Gly552Glu)
c.1589G>A (p.Gly530Glu)
c.1754G>A (p.Gly585Glu)
c.1808G>A (p.Gly603Glu)
2g.98396813G>CCA347833985CNGA3c.1643G>C (p.Gly548Ala)
c.1655G>C (p.Gly552Ala)
c.1589G>C (p.Gly530Ala)
c.1754G>C (p.Gly585Ala)
c.1808G>C (p.Gly603Ala)
2g.98396813G>TCA347833984CNGA3c.1643G>T (p.Gly548Val)
c.1655G>T (p.Gly552Val)
c.1589G>T (p.Gly530Val)
c.1754G>T (p.Gly585Val)
c.1808G>T (p.Gly603Val)
2g.98396814G>ACA427819726CNGA3c.1644G>A (p.Gly548=)
c.1656G>A (p.Gly552=)
c.1590G>A (p.Gly530=)
c.1755G>A (p.Gly585=)
c.1809G>A (p.Gly603=)
2g.98396814G>CCA427819727CNGA3c.1644G>C (p.Gly548=)
c.1656G>C (p.Gly552=)
c.1590G>C (p.Gly530=)
c.1755G>C (p.Gly585=)
c.1809G>C (p.Gly603=)
2g.98396814G>TCA427819724CNGA3c.1644G>T (p.Gly548=)
c.1656G>T (p.Gly552=)
c.1590G>T (p.Gly530=)
c.1755G>T (p.Gly585=)
c.1809G>T (p.Gly603=)
2g.98396814_98396815delinsAACA645516633CNGA3c.1644_1645delinsAA (p.Glu549Lys)
c.1656_1657delinsAA (p.Glu553Lys)
c.1590_1591delinsAA (p.Glu531Lys)
c.1755_1756delinsAA (p.Glu586Lys)
c.1809_1810delinsAA (p.Glu604Lys)
 COSMIC
2g.98396815G>ACA347833986CNGA3c.1645G>A (p.Glu549Lys)
c.1657G>A (p.Glu553Lys)
c.1591G>A (p.Glu531Lys)
c.1756G>A (p.Glu586Lys)
c.1810G>A (p.Glu604Lys)
2g.98396815G>CCA347833988CNGA3c.1645G>C (p.Glu549Gln)
c.1657G>C (p.Glu553Gln)
c.1591G>C (p.Glu531Gln)
c.1756G>C (p.Glu586Gln)
c.1810G>C (p.Glu604Gln)
2g.98396815G=CA1273420078CNGA3c.1645G= (p.Glu549=)
c.1657G= (p.Glu553=)
c.1591G= (p.Glu531=)
c.1756G= (p.Glu586=)
c.1810G= (p.Glu604=)
2g.98396815G>TCA347833987CNGA3c.1645G>T (p.Glu549Ter)
c.1657G>T (p.Glu553Ter)
c.1591G>T (p.Glu531Ter)
c.1756G>T (p.Glu586Ter)
c.1810G>T (p.Glu604Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.98396816A>CCA347833989CNGA3c.1646A>C (p.Glu549Ala)
c.1658A>C (p.Glu553Ala)
c.1592A>C (p.Glu531Ala)
c.1757A>C (p.Glu586Ala)
c.1811A>C (p.Glu604Ala)
2g.98396816A>GCA347833990CNGA3c.1646A>G (p.Glu549Gly)
c.1658A>G (p.Glu553Gly)
c.1592A>G (p.Glu531Gly)
c.1757A>G (p.Glu586Gly)
c.1811A>G (p.Glu604Gly)
2g.98396816A>TCA347833991CNGA3c.1646A>T (p.Glu549Val)
c.1658A>T (p.Glu553Val)
c.1592A>T (p.Glu531Val)
c.1757A>T (p.Glu586Val)
c.1811A>T (p.Glu604Val)
2g.98396817G>ACA427819734CNGA3c.1647G>A (p.Glu549=)
c.1659G>A (p.Glu553=)
c.1593G>A (p.Glu531=)
c.1758G>A (p.Glu586=)
c.1812G>A (p.Glu604=)
 dbSNP gnomAD v4
2g.98396817G>CCA347833992CNGA3c.1647G>C (p.Glu549Asp)
c.1659G>C (p.Glu553Asp)
c.1593G>C (p.Glu531Asp)
c.1758G>C (p.Glu586Asp)
c.1812G>C (p.Glu604Asp)
2g.98396817G=CA1273420079CNGA3c.1647G= (p.Glu549=)
c.1659G= (p.Glu553=)
c.1593G= (p.Glu531=)
c.1758G= (p.Glu586=)
c.1812G= (p.Glu604=)
2g.98396817G>TCA347833993CNGA3c.1647G>T (p.Glu549Asp)
c.1659G>T (p.Glu553Asp)
c.1593G>T (p.Glu531Asp)
c.1758G>T (p.Glu586Asp)
c.1812G>T (p.Glu604Asp)
 ClinVar dbSNP
2g.98396818A>CCA347833994CNGA3c.1648A>C (p.Ile550Leu)
c.1660A>C (p.Ile554Leu)
c.1594A>C (p.Ile532Leu)
c.1759A>C (p.Ile587Leu)
c.1813A>C (p.Ile605Leu)
2g.98396818A>GCA347833995CNGA3c.1648A>G (p.Ile550Val)
c.1660A>G (p.Ile554Val)
c.1594A>G (p.Ile532Val)
c.1759A>G (p.Ile587Val)
c.1813A>G (p.Ile605Val)
2g.98396818A>TCA347833996CNGA3c.1648A>T (p.Ile550Phe)
c.1660A>T (p.Ile554Phe)
c.1594A>T (p.Ile532Phe)
c.1759A>T (p.Ile587Phe)
c.1813A>T (p.Ile605Phe)
2g.98396819T>ACA347833997CNGA3c.1649T>A (p.Ile550Asn)
c.1661T>A (p.Ile554Asn)
c.1595T>A (p.Ile532Asn)
c.1760T>A (p.Ile587Asn)
c.1814T>A (p.Ile605Asn)
2g.98396819T>CCA347833998CNGA3c.1649T>C (p.Ile550Thr)
c.1661T>C (p.Ile554Thr)
c.1595T>C (p.Ile532Thr)
c.1760T>C (p.Ile587Thr)
c.1814T>C (p.Ile605Thr)
 gnomAD v4
2g.98396819T>GCA347833999CNGA3c.1649T>G (p.Ile550Ser)
c.1661T>G (p.Ile554Ser)
c.1595T>G (p.Ile532Ser)
c.1760T>G (p.Ile587Ser)
c.1814T>G (p.Ile605Ser)
2g.98396820C>ACA427819737CNGA3c.1650C>A (p.Ile550=)
c.1662C>A (p.Ile554=)
c.1596C>A (p.Ile532=)
c.1761C>A (p.Ile587=)
c.1815C>A (p.Ile605=)
2g.98396820C>GCA347834000CNGA3c.1650C>G (p.Ile550Met)
c.1662C>G (p.Ile554Met)
c.1596C>G (p.Ile532Met)
c.1761C>G (p.Ile587Met)
c.1815C>G (p.Ile605Met)
2g.98396820C>TCA427819740CNGA3c.1650C>T (p.Ile550=)
c.1662C>T (p.Ile554=)
c.1596C>T (p.Ile532=)
c.1761C>T (p.Ile587=)
c.1815C>T (p.Ile605=)
 gnomAD v4
2g.98396821A=CA1273420080CNGA3c.1651A= (p.Ser551=)
c.1663A= (p.Ser555=)
c.1597A= (p.Ser533=)
c.1762A= (p.Ser588=)
c.1816A= (p.Ser606=)
2g.98396821A>CCA347834003CNGA3c.1651A>C (p.Ser551Arg)
c.1663A>C (p.Ser555Arg)
c.1597A>C (p.Ser533Arg)
c.1762A>C (p.Ser588Arg)
c.1816A>C (p.Ser606Arg)
2g.98396821A>GCA347834001CNGA3c.1651A>G (p.Ser551Gly)
c.1663A>G (p.Ser555Gly)
c.1597A>G (p.Ser533Gly)
c.1762A>G (p.Ser588Gly)
c.1816A>G (p.Ser606Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.98396821A>TCA347834002CNGA3c.1651A>T (p.Ser551Cys)
c.1663A>T (p.Ser555Cys)
c.1597A>T (p.Ser533Cys)
c.1762A>T (p.Ser588Cys)
c.1816A>T (p.Ser606Cys)
2g.98396822G>ACA347834004CNGA3c.1652G>A (p.Ser551Asn)
c.1664G>A (p.Ser555Asn)
c.1598G>A (p.Ser533Asn)
c.1763G>A (p.Ser588Asn)
c.1817G>A (p.Ser606Asn)
2g.98396822G>CCA347834005CNGA3c.1652G>C (p.Ser551Thr)
c.1664G>C (p.Ser555Thr)
c.1598G>C (p.Ser533Thr)
c.1763G>C (p.Ser588Thr)
c.1817G>C (p.Ser606Thr)
2g.98396822G>TCA347834006CNGA3c.1652G>T (p.Ser551Ile)
c.1664G>T (p.Ser555Ile)
c.1598G>T (p.Ser533Ile)
c.1763G>T (p.Ser588Ile)
c.1817G>T (p.Ser606Ile)
2g.98396823C>ACA347834007CNGA3c.1653C>A (p.Ser551Arg)
c.1665C>A (p.Ser555Arg)
c.1599C>A (p.Ser533Arg)
c.1764C>A (p.Ser588Arg)
c.1818C>A (p.Ser606Arg)
2g.98396823C>GCA347834008CNGA3c.1653C>G (p.Ser551Arg)
c.1665C>G (p.Ser555Arg)
c.1599C>G (p.Ser533Arg)
c.1764C>G (p.Ser588Arg)
c.1818C>G (p.Ser606Arg)
2g.98396823C>TCA427819748CNGA3c.1653C>T (p.Ser551=)
c.1665C>T (p.Ser555=)
c.1599C>T (p.Ser533=)
c.1764C>T (p.Ser588=)
c.1818C>T (p.Ser606=)
2g.98396823_98396824delinsGCCA2580068357CNGA3c.1653_1654delinsGC (p.Ser551_Ile552delinsArgLeu)
c.1665_1666delinsGC (p.Ser555_Ile556delinsArgLeu)
c.1599_1600delinsGC (p.Ser533_Ile534delinsArgLeu)
c.1764_1765delinsGC (p.Ser588_Ile589delinsArgLeu)
c.1818_1819delinsGC (p.Ser606_Ile607delinsArgLeu)
 ClinVar
2g.98396824A=CA1273420081CNGA3c.1654A= (p.Ile552=)
c.1666A= (p.Ile556=)
c.1600A= (p.Ile534=)
c.1765A= (p.Ile589=)
c.1819A= (p.Ile607=)
2g.98396824A>CCA347834009CNGA3c.1654A>C (p.Ile552Leu)
c.1666A>C (p.Ile556Leu)
c.1600A>C (p.Ile534Leu)
c.1765A>C (p.Ile589Leu)
c.1819A>C (p.Ile607Leu)
2g.98396824A>GCA347834010CNGA3c.1654A>G (p.Ile552Val)
c.1666A>G (p.Ile556Val)
c.1600A>G (p.Ile534Val)
c.1765A>G (p.Ile589Val)
c.1819A>G (p.Ile607Val)
 dbSNP
2g.98396824A>TCA347834011CNGA3c.1654A>T (p.Ile552Phe)
c.1666A>T (p.Ile556Phe)
c.1600A>T (p.Ile534Phe)
c.1765A>T (p.Ile589Phe)
c.1819A>T (p.Ile607Phe)
2g.98396825T>ACA347834012CNGA3c.1655T>A (p.Ile552Asn)
c.1667T>A (p.Ile556Asn)
c.1601T>A (p.Ile534Asn)
c.1766T>A (p.Ile589Asn)
c.1820T>A (p.Ile607Asn)
 gnomAD v4
2g.98396825T>CCA347834013CNGA3c.1655T>C (p.Ile552Thr)
c.1667T>C (p.Ile556Thr)
c.1601T>C (p.Ile534Thr)
c.1766T>C (p.Ile589Thr)
c.1820T>C (p.Ile607Thr)
 ClinVar dbSNP gnomAD v4
2g.98396825T>GCA347834014CNGA3c.1655T>G (p.Ile552Ser)
c.1667T>G (p.Ile556Ser)
c.1601T>G (p.Ile534Ser)
c.1766T>G (p.Ile589Ser)
c.1820T>G (p.Ile607Ser)
2g.98396826dupCA2660313274CNGA3c.1656dup (p.Leu553SerfsTer?)
c.1668dup (p.Leu557SerfsTer?)
c.1602dup (p.Leu535SerfsTer?)
c.1767dup (p.Leu590SerfsTer?)
c.1821dup (p.Leu608SerfsTer?)
 gnomAD v4
2g.98396826T>ACA427819754CNGA3c.1656T>A (p.Ile552=)
c.1668T>A (p.Ile556=)
c.1602T>A (p.Ile534=)
c.1767T>A (p.Ile589=)
c.1821T>A (p.Ile607=)
2g.98396826T>CCA427819756CNGA3c.1656T>C (p.Ile552=)
c.1668T>C (p.Ile556=)
c.1602T>C (p.Ile534=)
c.1767T>C (p.Ile589=)
c.1821T>C (p.Ile607=)
 gnomAD v4
2g.98396826T>GCA347834015CNGA3c.1656T>G (p.Ile552Met)
c.1668T>G (p.Ile556Met)
c.1602T>G (p.Ile534Met)
c.1767T>G (p.Ile589Met)
c.1821T>G (p.Ile607Met)
2g.98396827C>ACA347834017CNGA3c.1657C>A (p.Leu553Met)
c.1669C>A (p.Leu557Met)
c.1603C>A (p.Leu535Met)
c.1768C>A (p.Leu590Met)
c.1822C>A (p.Leu608Met)
2g.98396827C>GCA347834016CNGA3c.1657C>G (p.Leu553Val)
c.1669C>G (p.Leu557Val)
c.1603C>G (p.Leu535Val)
c.1768C>G (p.Leu590Val)
c.1822C>G (p.Leu608Val)
2g.98396827C>TCA427819760CNGA3c.1657C>T (p.Leu553=)
c.1669C>T (p.Leu557=)
c.1603C>T (p.Leu535=)
c.1768C>T (p.Leu590=)
c.1822C>T (p.Leu608=)
2g.98396828T>ACA1794059CNGA3c.1658T>A (p.Leu553Gln)
c.1670T>A (p.Leu557Gln)
c.1604T>A (p.Leu535Gln)
c.1769T>A (p.Leu590Gln)
c.1823T>A (p.Leu608Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396828T>CCA347834018CNGA3c.1658T>C (p.Leu553Pro)
c.1670T>C (p.Leu557Pro)
c.1604T>C (p.Leu535Pro)
c.1769T>C (p.Leu590Pro)
c.1823T>C (p.Leu608Pro)
2g.98396828T>GCA347834019CNGA3c.1658T>G (p.Leu553Arg)
c.1670T>G (p.Leu557Arg)
c.1604T>G (p.Leu535Arg)
c.1769T>G (p.Leu590Arg)
c.1823T>G (p.Leu608Arg)
2g.98396828T=CA1273420082CNGA3c.1658T= (p.Leu553=)
c.1670T= (p.Leu557=)
c.1604T= (p.Leu535=)
c.1769T= (p.Leu590=)
c.1823T= (p.Leu608=)
2g.98396829G>ACA427819763CNGA3c.1659G>A (p.Leu553=)
c.1671G>A (p.Leu557=)
c.1605G>A (p.Leu535=)
c.1770G>A (p.Leu590=)
c.1824G>A (p.Leu608=)
 dbSNP
2g.98396829G>CCA427819764CNGA3c.1659G>C (p.Leu553=)
c.1671G>C (p.Leu557=)
c.1605G>C (p.Leu535=)
c.1770G>C (p.Leu590=)
c.1824G>C (p.Leu608=)
2g.98396829G=CA1273420083CNGA3c.1659G= (p.Leu553=)
c.1671G= (p.Leu557=)
c.1605G= (p.Leu535=)
c.1770G= (p.Leu590=)
c.1824G= (p.Leu608=)
2g.98396829G>TCA427819767CNGA3c.1659G>T (p.Leu553=)
c.1671G>T (p.Leu557=)
c.1605G>T (p.Leu535=)
c.1770G>T (p.Leu590=)
c.1824G>T (p.Leu608=)
2g.98396830A>CCA347834020CNGA3c.1660A>C (p.Asn554His)
c.1672A>C (p.Asn558His)
c.1606A>C (p.Asn536His)
c.1771A>C (p.Asn591His)
c.1825A>C (p.Asn609His)
2g.98396830A>GCA347834021CNGA3c.1660A>G (p.Asn554Asp)
c.1672A>G (p.Asn558Asp)
c.1606A>G (p.Asn536Asp)
c.1771A>G (p.Asn591Asp)
c.1825A>G (p.Asn609Asp)
2g.98396830A>TCA347834022CNGA3c.1660A>T (p.Asn554Tyr)
c.1672A>T (p.Asn558Tyr)
c.1606A>T (p.Asn536Tyr)
c.1771A>T (p.Asn591Tyr)
c.1825A>T (p.Asn609Tyr)
2g.98396831A=CA1273420084CNGA3c.1661A= (p.Asn554=)
c.1673A= (p.Asn558=)
c.1607A= (p.Asn536=)
c.1772A= (p.Asn591=)
c.1826A= (p.Asn609=)
2g.98396831A>CCA347834023CNGA3c.1661A>C (p.Asn554Thr)
c.1673A>C (p.Asn558Thr)
c.1607A>C (p.Asn536Thr)
c.1772A>C (p.Asn591Thr)
c.1826A>C (p.Asn609Thr)
2g.98396831A>GCA1794060CNGA3c.1661A>G (p.Asn554Ser)
c.1673A>G (p.Asn558Ser)
c.1607A>G (p.Asn536Ser)
c.1772A>G (p.Asn591Ser)
c.1826A>G (p.Asn609Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396831A>TCA347834024CNGA3c.1661A>T (p.Asn554Ile)
c.1673A>T (p.Asn558Ile)
c.1607A>T (p.Asn536Ile)
c.1772A>T (p.Asn591Ile)
c.1826A>T (p.Asn609Ile)
2g.98396832C>ACA347834025CNGA3c.1662C>A (p.Asn554Lys)
c.1674C>A (p.Asn558Lys)
c.1608C>A (p.Asn536Lys)
c.1773C>A (p.Asn591Lys)
c.1827C>A (p.Asn609Lys)
2g.98396832C>GCA347834026CNGA3c.1662C>G (p.Asn554Lys)
c.1674C>G (p.Asn558Lys)
c.1608C>G (p.Asn536Lys)
c.1773C>G (p.Asn591Lys)
c.1827C>G (p.Asn609Lys)
2g.98396832C>TCA427819768CNGA3c.1662C>T (p.Asn554=)
c.1674C>T (p.Asn558=)
c.1608C>T (p.Asn536=)
c.1773C>T (p.Asn591=)
c.1827C>T (p.Asn609=)
 gnomAD v4
2g.98396833A=CA1273420085CNGA3c.1663A= (p.Ile555=)
c.1675A= (p.Ile559=)
c.1609A= (p.Ile537=)
c.1774A= (p.Ile592=)
c.1828A= (p.Ile610=)
2g.98396833A>CCA347834028CNGA3c.1663A>C (p.Ile555Leu)
c.1675A>C (p.Ile559Leu)
c.1609A>C (p.Ile537Leu)
c.1774A>C (p.Ile592Leu)
c.1828A>C (p.Ile610Leu)
2g.98396833A>GCA1794061CNGA3c.1663A>G (p.Ile555Val)
c.1675A>G (p.Ile559Val)
c.1609A>G (p.Ile537Val)
c.1774A>G (p.Ile592Val)
c.1828A>G (p.Ile610Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396833A>TCA347834027CNGA3c.1663A>T (p.Ile555Phe)
c.1675A>T (p.Ile559Phe)
c.1609A>T (p.Ile537Phe)
c.1774A>T (p.Ile592Phe)
c.1828A>T (p.Ile610Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98396834T>ACA347834029CNGA3c.1664T>A (p.Ile555Asn)
c.1676T>A (p.Ile559Asn)
c.1610T>A (p.Ile537Asn)
c.1775T>A (p.Ile592Asn)
c.1829T>A (p.Ile610Asn)
2g.98396834T>CCA1794062CNGA3c.1664T>C (p.Ile555Thr)
c.1676T>C (p.Ile559Thr)
c.1610T>C (p.Ile537Thr)
c.1775T>C (p.Ile592Thr)
c.1829T>C (p.Ile610Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396834T>GCA347834030CNGA3c.1664T>G (p.Ile555Ser)
c.1676T>G (p.Ile559Ser)
c.1610T>G (p.Ile537Ser)
c.1775T>G (p.Ile592Ser)
c.1829T>G (p.Ile610Ser)
 dbSNP
2g.98396834T=CA1273420086CNGA3c.1664T= (p.Ile555=)
c.1676T= (p.Ile559=)
c.1610T= (p.Ile537=)
c.1775T= (p.Ile592=)
c.1829T= (p.Ile610=)
2g.98396835C>ACA427819770CNGA3c.1665C>A (p.Ile555=)
c.1677C>A (p.Ile559=)
c.1611C>A (p.Ile537=)
c.1776C>A (p.Ile592=)
c.1830C>A (p.Ile610=)
2g.98396835C>GCA347834031CNGA3c.1665C>G (p.Ile555Met)
c.1677C>G (p.Ile559Met)
c.1611C>G (p.Ile537Met)
c.1776C>G (p.Ile592Met)
c.1830C>G (p.Ile610Met)
2g.98396835C>TCA427819772CNGA3c.1665C>T (p.Ile555=)
c.1677C>T (p.Ile559=)
c.1611C>T (p.Ile537=)
c.1776C>T (p.Ile592=)
c.1830C>T (p.Ile610=)
2g.98396836A>CCA347834032CNGA3c.1666A>C (p.Lys556Gln)
c.1678A>C (p.Lys560Gln)
c.1612A>C (p.Lys538Gln)
c.1777A>C (p.Lys593Gln)
c.1831A>C (p.Lys611Gln)
2g.98396836A>GCA347834033CNGA3c.1666A>G (p.Lys556Glu)
c.1678A>G (p.Lys560Glu)
c.1612A>G (p.Lys538Glu)
c.1777A>G (p.Lys593Glu)
c.1831A>G (p.Lys611Glu)
2g.98396836A>TCA347834034CNGA3c.1666A>T (p.Lys556Ter)
c.1678A>T (p.Lys560Ter)
c.1612A>T (p.Lys538Ter)
c.1777A>T (p.Lys593Ter)
c.1831A>T (p.Lys611Ter)
2g.98396837A=CA1273420087CNGA3c.1667A= (p.Lys556=)
c.1679A= (p.Lys560=)
c.1613A= (p.Lys538=)
c.1778A= (p.Lys593=)
c.1832A= (p.Lys611=)
2g.98396837A>CCA347834035CNGA3c.1667A>C (p.Lys556Thr)
c.1679A>C (p.Lys560Thr)
c.1613A>C (p.Lys538Thr)
c.1778A>C (p.Lys593Thr)
c.1832A>C (p.Lys611Thr)
2g.98396837A>GCA1794063CNGA3c.1667A>G (p.Lys556Arg)
c.1679A>G (p.Lys560Arg)
c.1613A>G (p.Lys538Arg)
c.1778A>G (p.Lys593Arg)
c.1832A>G (p.Lys611Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396837A>TCA347834036CNGA3c.1667A>T (p.Lys556Met)
c.1679A>T (p.Lys560Met)
c.1613A>T (p.Lys538Met)
c.1778A>T (p.Lys593Met)
c.1832A>T (p.Lys611Met)
2g.98396838G>ACA427819778CNGA3c.1668G>A (p.Lys556=)
c.1680G>A (p.Lys560=)
c.1614G>A (p.Lys538=)
c.1779G>A (p.Lys593=)
c.1833G>A (p.Lys611=)
2g.98396838G>CCA347834037CNGA3c.1668G>C (p.Lys556Asn)
c.1680G>C (p.Lys560Asn)
c.1614G>C (p.Lys538Asn)
c.1779G>C (p.Lys593Asn)
c.1833G>C (p.Lys611Asn)
2g.98396838G>TCA347834038CNGA3c.1668G>T (p.Lys556Asn)
c.1680G>T (p.Lys560Asn)
c.1614G>T (p.Lys538Asn)
c.1779G>T (p.Lys593Asn)
c.1833G>T (p.Lys611Asn)
2g.98396839G>ACA199157CNGA3c.1669G>A (p.Gly557Arg)
c.1681G>A (p.Gly561Arg)
c.1615G>A (p.Gly539Arg)
c.1780G>A (p.Gly594Arg)
c.1834G>A (p.Gly612Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396839G>CCA347834040CNGA3c.1669G>C (p.Gly557Arg)
c.1681G>C (p.Gly561Arg)
c.1615G>C (p.Gly539Arg)
c.1780G>C (p.Gly594Arg)
c.1834G>C (p.Gly612Arg)
2g.98396839G=CA1273420088CNGA3c.1669G= (p.Gly557=)
c.1681G= (p.Gly561=)
c.1615G= (p.Gly539=)
c.1780G= (p.Gly594=)
c.1834G= (p.Gly612=)
2g.98396839G>TCA347834039CNGA3c.1669G>T (p.Gly557Trp)
c.1681G>T (p.Gly561Trp)
c.1615G>T (p.Gly539Trp)
c.1780G>T (p.Gly594Trp)
c.1834G>T (p.Gly612Trp)
 gnomAD v4
2g.98396840G>ACA347834041CNGA3c.1670G>A (p.Gly557Glu)
c.1682G>A (p.Gly561Glu)
c.1616G>A (p.Gly539Glu)
c.1781G>A (p.Gly594Glu)
c.1835G>A (p.Gly612Glu)
 gnomAD v4
2g.98396840G>CCA347834043CNGA3c.1670G>C (p.Gly557Ala)
c.1682G>C (p.Gly561Ala)
c.1616G>C (p.Gly539Ala)
c.1781G>C (p.Gly594Ala)
c.1835G>C (p.Gly612Ala)
2g.98396840G>TCA347834042CNGA3c.1670G>T (p.Gly557Val)
c.1682G>T (p.Gly561Val)
c.1616G>T (p.Gly539Val)
c.1781G>T (p.Gly594Val)
c.1835G>T (p.Gly612Val)
2g.98396841G>ACA427819787CNGA3c.1671G>A (p.Gly557=)
c.1683G>A (p.Gly561=)
c.1617G>A (p.Gly539=)
c.1782G>A (p.Gly594=)
c.1836G>A (p.Gly612=)
 gnomAD v4
2g.98396841G>CCA427819788CNGA3c.1671G>C (p.Gly557=)
c.1683G>C (p.Gly561=)
c.1617G>C (p.Gly539=)
c.1782G>C (p.Gly594=)
c.1836G>C (p.Gly612=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98396841G=CA1273420089CNGA3c.1671G= (p.Gly557=)
c.1683G= (p.Gly561=)
c.1617G= (p.Gly539=)
c.1782G= (p.Gly594=)
c.1836G= (p.Gly612=)
2g.98396841G>TCA427819789CNGA3c.1671G>T (p.Gly557=)
c.1683G>T (p.Gly561=)
c.1617G>T (p.Gly539=)
c.1782G>T (p.Gly594=)
c.1836G>T (p.Gly612=)
2g.98396842A>CCA347834044CNGA3c.1672A>C (p.Ser558Arg)
c.1684A>C (p.Ser562Arg)
c.1618A>C (p.Ser540Arg)
c.1783A>C (p.Ser595Arg)
c.1837A>C (p.Ser613Arg)
2g.98396842A>GCA347834045CNGA3c.1672A>G (p.Ser558Gly)
c.1684A>G (p.Ser562Gly)
c.1618A>G (p.Ser540Gly)
c.1783A>G (p.Ser595Gly)
c.1837A>G (p.Ser613Gly)
2g.98396842A>TCA347834046CNGA3c.1672A>T (p.Ser558Cys)
c.1684A>T (p.Ser562Cys)
c.1618A>T (p.Ser540Cys)
c.1783A>T (p.Ser595Cys)
c.1837A>T (p.Ser613Cys)
2g.98396843G>ACA347834047CNGA3c.1673G>A (p.Ser558Asn)
c.1685G>A (p.Ser562Asn)
c.1619G>A (p.Ser540Asn)
c.1784G>A (p.Ser595Asn)
c.1838G>A (p.Ser613Asn)
2g.98396843G>CCA347834048CNGA3c.1673G>C (p.Ser558Thr)
c.1685G>C (p.Ser562Thr)
c.1619G>C (p.Ser540Thr)
c.1784G>C (p.Ser595Thr)
c.1838G>C (p.Ser613Thr)
 ClinVar dbSNP
2g.98396843G=CA1273420090CNGA3c.1673G= (p.Ser558=)
c.1685G= (p.Ser562=)
c.1619G= (p.Ser540=)
c.1784G= (p.Ser595=)
c.1838G= (p.Ser613=)
2g.98396843G>TCA347834049CNGA3c.1673G>T (p.Ser558Ile)
c.1685G>T (p.Ser562Ile)
c.1619G>T (p.Ser540Ile)
c.1784G>T (p.Ser595Ile)
c.1838G>T (p.Ser613Ile)
2g.98396844C>ACA347834050CNGA3c.1674C>A (p.Ser558Arg)
c.1686C>A (p.Ser562Arg)
c.1620C>A (p.Ser540Arg)
c.1785C>A (p.Ser595Arg)
c.1839C>A (p.Ser613Arg)
2g.98396844C=CA1273420091CNGA3c.1674C= (p.Ser558=)
c.1686C= (p.Ser562=)
c.1620C= (p.Ser540=)
c.1785C= (p.Ser595=)
c.1839C= (p.Ser613=)
2g.98396844C>GCA347834051CNGA3c.1674C>G (p.Ser558Arg)
c.1686C>G (p.Ser562Arg)
c.1620C>G (p.Ser540Arg)
c.1785C>G (p.Ser595Arg)
c.1839C>G (p.Ser613Arg)
2g.98396844C>TCA427819793CNGA3c.1674C>T (p.Ser558=)
c.1686C>T (p.Ser562=)
c.1620C>T (p.Ser540=)
c.1785C>T (p.Ser595=)
c.1839C>T (p.Ser613=)
 dbSNP gnomAD v3 gnomAD v4
2g.98396845A=CA1273420092CNGA3c.1675A= (p.Lys559=)
c.1687A= (p.Lys563=)
c.1621A= (p.Lys541=)
c.1786A= (p.Lys596=)
c.1840A= (p.Lys614=)
2g.98396845A>CCA347834052CNGA3c.1675A>C (p.Lys559Gln)
c.1687A>C (p.Lys563Gln)
c.1621A>C (p.Lys541Gln)
c.1786A>C (p.Lys596Gln)
c.1840A>C (p.Lys614Gln)
2g.98396845A>GCA347834053CNGA3c.1675A>G (p.Lys559Glu)
c.1687A>G (p.Lys563Glu)
c.1621A>G (p.Lys541Glu)
c.1786A>G (p.Lys596Glu)
c.1840A>G (p.Lys614Glu)
2g.98396845A>TCA347834054CNGA3c.1675A>T (p.Lys559Ter)
c.1687A>T (p.Lys563Ter)
c.1621A>T (p.Lys541Ter)
c.1786A>T (p.Lys596Ter)
c.1840A>T (p.Lys614Ter)
 dbSNP
2g.98396846A=CA1273420093CNGA3c.1676A= (p.Lys559=)
c.1688A= (p.Lys563=)
c.1622A= (p.Lys541=)
c.1787A= (p.Lys596=)
c.1841A= (p.Lys614=)
2g.98396846A>CCA347834057CNGA3c.1676A>C (p.Lys559Thr)
c.1688A>C (p.Lys563Thr)
c.1622A>C (p.Lys541Thr)
c.1787A>C (p.Lys596Thr)
c.1841A>C (p.Lys614Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98396846A>GCA347834055CNGA3c.1676A>G (p.Lys559Arg)
c.1688A>G (p.Lys563Arg)
c.1622A>G (p.Lys541Arg)
c.1787A>G (p.Lys596Arg)
c.1841A>G (p.Lys614Arg)
 gnomAD v4
2g.98396846A>TCA347834056CNGA3c.1676A>T (p.Lys559Met)
c.1688A>T (p.Lys563Met)
c.1622A>T (p.Lys541Met)
c.1787A>T (p.Lys596Met)
c.1841A>T (p.Lys614Met)
2g.98396847G>ACA427819799CNGA3c.1677G>A (p.Lys559=)
c.1689G>A (p.Lys563=)
c.1623G>A (p.Lys541=)
c.1788G>A (p.Lys596=)
c.1842G>A (p.Lys614=)
2g.98396847G>CCA347834058CNGA3c.1677G>C (p.Lys559Asn)
c.1689G>C (p.Lys563Asn)
c.1623G>C (p.Lys541Asn)
c.1788G>C (p.Lys596Asn)
c.1842G>C (p.Lys614Asn)
 gnomAD v4
2g.98396847G>TCA347834059CNGA3c.1677G>T (p.Lys559Asn)
c.1689G>T (p.Lys563Asn)
c.1623G>T (p.Lys541Asn)
c.1788G>T (p.Lys596Asn)
c.1842G>T (p.Lys614Asn)
2g.98396848T>ACA347834060CNGA3c.1678T>A (p.Ser560Thr)
c.1690T>A (p.Ser564Thr)
c.1624T>A (p.Ser542Thr)
c.1789T>A (p.Ser597Thr)
c.1843T>A (p.Ser615Thr)
2g.98396848T>CCA347834061CNGA3c.1678T>C (p.Ser560Pro)
c.1690T>C (p.Ser564Pro)
c.1624T>C (p.Ser542Pro)
c.1789T>C (p.Ser597Pro)
c.1843T>C (p.Ser615Pro)
 dbSNP gnomAD v4
2g.98396848T>GCA347834062CNGA3c.1678T>G (p.Ser560Ala)
c.1690T>G (p.Ser564Ala)
c.1624T>G (p.Ser542Ala)
c.1789T>G (p.Ser597Ala)
c.1843T>G (p.Ser615Ala)
 gnomAD v4
2g.98396848T=CA1273420094CNGA3c.1678T= (p.Ser560=)
c.1690T= (p.Ser564=)
c.1624T= (p.Ser542=)
c.1789T= (p.Ser597=)
c.1843T= (p.Ser615=)
2g.98396849C>ACA347834063CNGA3c.1679C>A (p.Ser560Ter)
c.1691C>A (p.Ser564Ter)
c.1625C>A (p.Ser542Ter)
c.1790C>A (p.Ser597Ter)
c.1844C>A (p.Ser615Ter)
 ClinVar
2g.98396849C=CA1273420095CNGA3c.1679C= (p.Ser560=)
c.1691C= (p.Ser564=)
c.1625C= (p.Ser542=)
c.1790C= (p.Ser597=)
c.1844C= (p.Ser615=)
2g.98396849C>GCA347834064CNGA3c.1679C>G (p.Ser560Trp)
c.1691C>G (p.Ser564Trp)
c.1625C>G (p.Ser542Trp)
c.1790C>G (p.Ser597Trp)
c.1844C>G (p.Ser615Trp)
2g.98396849C>TCA1794064CNGA3c.1679C>T (p.Ser560Leu)
c.1691C>T (p.Ser564Leu)
c.1625C>T (p.Ser542Leu)
c.1790C>T (p.Ser597Leu)
c.1844C>T (p.Ser615Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396850G>ACA427819809CNGA3c.1680G>A (p.Ser560=)
c.1692G>A (p.Ser564=)
c.1626G>A (p.Ser542=)
c.1791G>A (p.Ser597=)
c.1845G>A (p.Ser615=)
 dbSNP gnomAD v2 gnomAD v4
2g.98396850G>CCA427819810CNGA3c.1680G>C (p.Ser560=)
c.1692G>C (p.Ser564=)
c.1626G>C (p.Ser542=)
c.1791G>C (p.Ser597=)
c.1845G>C (p.Ser615=)
 gnomAD v4
2g.98396850G=CA1273420096CNGA3c.1680G= (p.Ser560=)
c.1692G= (p.Ser564=)
c.1626G= (p.Ser542=)
c.1791G= (p.Ser597=)
c.1845G= (p.Ser615=)
2g.98396850G>TCA427819811CNGA3c.1680G>T (p.Ser560=)
c.1692G>T (p.Ser564=)
c.1626G>T (p.Ser542=)
c.1791G>T (p.Ser597=)
c.1845G>T (p.Ser615=)
 dbSNP gnomAD v2 gnomAD v4
2g.98396851G>ACA347834065CNGA3c.1681G>A (p.Gly561Arg)
c.1693G>A (p.Gly565Arg)
c.1627G>A (p.Gly543Arg)
c.1792G>A (p.Gly598Arg)
c.1846G>A (p.Gly616Arg)
2g.98396851G>CCA347834066CNGA3c.1681G>C (p.Gly561Arg)
c.1693G>C (p.Gly565Arg)
c.1627G>C (p.Gly543Arg)
c.1792G>C (p.Gly598Arg)
c.1846G>C (p.Gly616Arg)
2g.98396851G>TCA347834067CNGA3c.1681G>T (p.Gly561Trp)
c.1693G>T (p.Gly565Trp)
c.1627G>T (p.Gly543Trp)
c.1792G>T (p.Gly598Trp)
c.1846G>T (p.Gly616Trp)
2g.98396852G>ACA347834069CNGA3c.1682G>A (p.Gly561Glu)
c.1694G>A (p.Gly565Glu)
c.1628G>A (p.Gly543Glu)
c.1793G>A (p.Gly598Glu)
c.1847G>A (p.Gly616Glu)
2g.98396852G>CCA347834070CNGA3c.1682G>C (p.Gly561Ala)
c.1694G>C (p.Gly565Ala)
c.1628G>C (p.Gly543Ala)
c.1793G>C (p.Gly598Ala)
c.1847G>C (p.Gly616Ala)
2g.98396852G>TCA347834068CNGA3c.1682G>T (p.Gly561Val)
c.1694G>T (p.Gly565Val)
c.1628G>T (p.Gly543Val)
c.1793G>T (p.Gly598Val)
c.1847G>T (p.Gly616Val)
2g.98396852_98396853insACGCGCA2499216323CNGA3c.1682_1683insACGCG (p.Asn562ArgfsTer?)
c.1694_1695insACGCG (p.Asn566ArgfsTer?)
c.1628_1629insACGCG (p.Asn544ArgfsTer?)
c.1793_1794insACGCG (p.Asn599ArgfsTer?)
c.1847_1848insACGCG (p.Asn617ArgfsTer?)
 ClinVar dbSNP
2g.98396853G>ACA1794065CNGA3c.1683G>A (p.Gly561=)
c.1695G>A (p.Gly565=)
c.1629G>A (p.Gly543=)
c.1794G>A (p.Gly598=)
c.1848G>A (p.Gly616=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.98396853G>CCA427819826CNGA3c.1683G>C (p.Gly561=)
c.1695G>C (p.Gly565=)
c.1629G>C (p.Gly543=)
c.1794G>C (p.Gly598=)
c.1848G>C (p.Gly616=)
2g.98396853G=CA1273420097CNGA3c.1683G= (p.Gly561=)
c.1695G= (p.Gly565=)
c.1629G= (p.Gly543=)
c.1794G= (p.Gly598=)
c.1848G= (p.Gly616=)
2g.98396853G>TCA427819828CNGA3c.1683G>T (p.Gly561=)
c.1695G>T (p.Gly565=)
c.1629G>T (p.Gly543=)
c.1794G>T (p.Gly598=)
c.1848G>T (p.Gly616=)
2g.98396854A>CCA347834071CNGA3c.1684A>C (p.Asn562His)
c.1696A>C (p.Asn566His)
c.1630A>C (p.Asn544His)
c.1795A>C (p.Asn599His)
c.1849A>C (p.Asn617His)
2g.98396854A>GCA347834072CNGA3c.1684A>G (p.Asn562Asp)
c.1696A>G (p.Asn566Asp)
c.1630A>G (p.Asn544Asp)
c.1795A>G (p.Asn599Asp)
c.1849A>G (p.Asn617Asp)
2g.98396854A>TCA347834073CNGA3c.1684A>T (p.Asn562Tyr)
c.1696A>T (p.Asn566Tyr)
c.1630A>T (p.Asn544Tyr)
c.1795A>T (p.Asn599Tyr)
c.1849A>T (p.Asn617Tyr)
2g.98396855A=CA1273420098CNGA3c.1685A= (p.Asn562=)
c.1697A= (p.Asn566=)
c.1631A= (p.Asn544=)
c.1796A= (p.Asn599=)
c.1850A= (p.Asn617=)
2g.98396855A>CCA347834074CNGA3c.1685A>C (p.Asn562Thr)
c.1697A>C (p.Asn566Thr)
c.1631A>C (p.Asn544Thr)
c.1796A>C (p.Asn599Thr)
c.1850A>C (p.Asn617Thr)
2g.98396855A>GCA347834075CNGA3c.1685A>G (p.Asn562Ser)
c.1697A>G (p.Asn566Ser)
c.1631A>G (p.Asn544Ser)
c.1796A>G (p.Asn599Ser)
c.1850A>G (p.Asn617Ser)
 dbSNP
2g.98396855A>TCA347834076CNGA3c.1685A>T (p.Asn562Ile)
c.1697A>T (p.Asn566Ile)
c.1631A>T (p.Asn544Ile)
c.1796A>T (p.Asn599Ile)
c.1850A>T (p.Asn617Ile)
2g.98396856C>ACA347834077CNGA3c.1686C>A (p.Asn562Lys)
c.1698C>A (p.Asn566Lys)
c.1632C>A (p.Asn544Lys)
c.1797C>A (p.Asn599Lys)
c.1851C>A (p.Asn617Lys)
 ClinVar dbSNP gnomAD v4
2g.98396856C=CA1273420099CNGA3c.1686C= (p.Asn562=)
c.1698C= (p.Asn566=)
c.1632C= (p.Asn544=)
c.1797C= (p.Asn599=)
c.1851C= (p.Asn617=)
2g.98396856C>GCA347834078CNGA3c.1686C>G (p.Asn562Lys)
c.1698C>G (p.Asn566Lys)
c.1632C>G (p.Asn544Lys)
c.1797C>G (p.Asn599Lys)
c.1851C>G (p.Asn617Lys)
2g.98396856C>TCA427819839CNGA3c.1686C>T (p.Asn562=)
c.1698C>T (p.Asn566=)
c.1632C>T (p.Asn544=)
c.1797C>T (p.Asn599=)
c.1851C>T (p.Asn617=)
2g.98396857C>ACA347834079CNGA3c.1687C>A (p.Arg563Ser)
c.1699C>A (p.Arg567Ser)
c.1633C>A (p.Arg545Ser)
c.1798C>A (p.Arg600Ser)
c.1852C>A (p.Arg618Ser)
 COSMIC
2g.98396857C=CA1273420100CNGA3c.1687C= (p.Arg563=)
c.1699C= (p.Arg567=)
c.1633C= (p.Arg545=)
c.1798C= (p.Arg600=)
c.1852C= (p.Arg618=)
2g.98396857C>GCA347834080CNGA3c.1687C>G (p.Arg563Gly)
c.1699C>G (p.Arg567Gly)
c.1633C>G (p.Arg545Gly)
c.1798C>G (p.Arg600Gly)
c.1852C>G (p.Arg618Gly)
2g.98396857C>TCA1794066CNGA3c.1687C>T (p.Arg563Cys)
c.1699C>T (p.Arg567Cys)
c.1633C>T (p.Arg545Cys)
c.1798C>T (p.Arg600Cys)
c.1852C>T (p.Arg618Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396858G>ACA1794067CNGA3c.1688G>A (p.Arg563His)
c.1700G>A (p.Arg567His)
c.1634G>A (p.Arg545His)
c.1799G>A (p.Arg600His)
c.1853G>A (p.Arg618His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396858G>CCA347834082CNGA3c.1688G>C (p.Arg563Pro)
c.1700G>C (p.Arg567Pro)
c.1634G>C (p.Arg545Pro)
c.1799G>C (p.Arg600Pro)
c.1853G>C (p.Arg618Pro)
2g.98396858G=CA1273420101CNGA3c.1688G= (p.Arg563=)
c.1700G= (p.Arg567=)
c.1634G= (p.Arg545=)
c.1799G= (p.Arg600=)
c.1853G= (p.Arg618=)
2g.98396858G>TCA347834081CNGA3c.1688G>T (p.Arg563Leu)
c.1700G>T (p.Arg567Leu)
c.1634G>T (p.Arg545Leu)
c.1799G>T (p.Arg600Leu)
c.1853G>T (p.Arg618Leu)
 gnomAD v4
2g.98396859C>ACA427819852CNGA3c.1689C>A (p.Arg563=)
c.1701C>A (p.Arg567=)
c.1635C>A (p.Arg545=)
c.1800C>A (p.Arg600=)
c.1854C>A (p.Arg618=)
2g.98396859C=CA1273420102CNGA3c.1689C= (p.Arg563=)
c.1701C= (p.Arg567=)
c.1635C= (p.Arg545=)
c.1800C= (p.Arg600=)
c.1854C= (p.Arg618=)
2g.98396859C>GCA427819849CNGA3c.1689C>G (p.Arg563=)
c.1701C>G (p.Arg567=)
c.1635C>G (p.Arg545=)
c.1800C>G (p.Arg600=)
c.1854C>G (p.Arg618=)
2g.98396859C>TCA427819850CNGA3c.1689C>T (p.Arg563=)
c.1701C>T (p.Arg567=)
c.1635C>T (p.Arg545=)
c.1800C>T (p.Arg600=)
c.1854C>T (p.Arg618=)
 dbSNP gnomAD v4
2g.98396860A>CCA427819853CNGA3c.1690A>C (p.Arg564=)
c.1702A>C (p.Arg568=)
c.1636A>C (p.Arg546=)
c.1801A>C (p.Arg601=)
c.1855A>C (p.Arg619=)
2g.98396860A>GCA347834083CNGA3c.1690A>G (p.Arg564Gly)
c.1702A>G (p.Arg568Gly)
c.1636A>G (p.Arg546Gly)
c.1801A>G (p.Arg601Gly)
c.1855A>G (p.Arg619Gly)
 gnomAD v4
2g.98396860A>TCA347834084CNGA3c.1690A>T (p.Arg564Trp)
c.1702A>T (p.Arg568Trp)
c.1636A>T (p.Arg546Trp)
c.1801A>T (p.Arg601Trp)
c.1855A>T (p.Arg619Trp)
2g.98396861G>ACA347834085CNGA3c.1691G>A (p.Arg564Lys)
c.1703G>A (p.Arg568Lys)
c.1637G>A (p.Arg546Lys)
c.1802G>A (p.Arg601Lys)
c.1856G>A (p.Arg619Lys)
2g.98396861G>CCA347834086CNGA3c.1691G>C (p.Arg564Thr)
c.1703G>C (p.Arg568Thr)
c.1637G>C (p.Arg546Thr)
c.1802G>C (p.Arg601Thr)
c.1856G>C (p.Arg619Thr)
 gnomAD v4
2g.98396861G>TCA347834087CNGA3c.1691G>T (p.Arg564Met)
c.1703G>T (p.Arg568Met)
c.1637G>T (p.Arg546Met)
c.1802G>T (p.Arg601Met)
c.1856G>T (p.Arg619Met)
2g.98396862G>ACA1794068CNGA3c.1692G>A (p.Arg564=)
c.1704G>A (p.Arg568=)
c.1638G>A (p.Arg546=)
c.1803G>A (p.Arg601=)
c.1857G>A (p.Arg619=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396862G>CCA347834088CNGA3c.1692G>C (p.Arg564Ser)
c.1704G>C (p.Arg568Ser)
c.1638G>C (p.Arg546Ser)
c.1803G>C (p.Arg601Ser)
c.1857G>C (p.Arg619Ser)
2g.98396862G=CA1273420103CNGA3c.1692G= (p.Arg564=)
c.1704G= (p.Arg568=)
c.1638G= (p.Arg546=)
c.1803G= (p.Arg601=)
c.1857G= (p.Arg619=)
2g.98396862G>TCA1794069CNGA3c.1692G>T (p.Arg564Ser)
c.1704G>T (p.Arg568Ser)
c.1638G>T (p.Arg546Ser)
c.1803G>T (p.Arg601Ser)
c.1857G>T (p.Arg619Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396863A>CCA347834089CNGA3c.1693A>C (p.Thr565Pro)
c.1705A>C (p.Thr569Pro)
c.1639A>C (p.Thr547Pro)
c.1804A>C (p.Thr602Pro)
c.1858A>C (p.Thr620Pro)
2g.98396863A>GCA347834090CNGA3c.1693A>G (p.Thr565Ala)
c.1705A>G (p.Thr569Ala)
c.1639A>G (p.Thr547Ala)
c.1804A>G (p.Thr602Ala)
c.1858A>G (p.Thr620Ala)
2g.98396863A>TCA347834091CNGA3c.1693A>T (p.Thr565Ser)
c.1705A>T (p.Thr569Ser)
c.1639A>T (p.Thr547Ser)
c.1804A>T (p.Thr602Ser)
c.1858A>T (p.Thr620Ser)
2g.98396864C>ACA347834092CNGA3c.1694C>A (p.Thr565Lys)
c.1706C>A (p.Thr569Lys)
c.1640C>A (p.Thr547Lys)
c.1805C>A (p.Thr602Lys)
c.1859C>A (p.Thr620Lys)
2g.98396864C=CA1273420104CNGA3c.1694C= (p.Thr565=)
c.1706C= (p.Thr569=)
c.1640C= (p.Thr547=)
c.1805C= (p.Thr602=)
c.1859C= (p.Thr620=)
2g.98396864C>GCA347834093CNGA3c.1694C>G (p.Thr565Arg)
c.1706C>G (p.Thr569Arg)
c.1640C>G (p.Thr547Arg)
c.1805C>G (p.Thr602Arg)
c.1859C>G (p.Thr620Arg)
2g.98396864C>TCA1794070CNGA3c.1694C>T (p.Thr565Met)
c.1706C>T (p.Thr569Met)
c.1640C>T (p.Thr547Met)
c.1805C>T (p.Thr602Met)
c.1859C>T (p.Thr620Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396865G>ACA1794071CNGA3c.1695G>A (p.Thr565=)
c.1707G>A (p.Thr569=)
c.1641G>A (p.Thr547=)
c.1806G>A (p.Thr602=)
c.1860G>A (p.Thr620=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396865G>CCA427819868CNGA3c.1695G>C (p.Thr565=)
c.1707G>C (p.Thr569=)
c.1641G>C (p.Thr547=)
c.1806G>C (p.Thr602=)
c.1860G>C (p.Thr620=)
2g.98396865G=CA1273420105CNGA3c.1695G= (p.Thr565=)
c.1707G= (p.Thr569=)
c.1641G= (p.Thr547=)
c.1806G= (p.Thr602=)
c.1860G= (p.Thr620=)
2g.98396865G>TCA427819869CNGA3c.1695G>T (p.Thr565=)
c.1707G>T (p.Thr569=)
c.1641G>T (p.Thr547=)
c.1806G>T (p.Thr602=)
c.1860G>T (p.Thr620=)
2g.98396866G>ACA347834095CNGA3c.1696G>A (p.Ala566Thr)
c.1708G>A (p.Ala570Thr)
c.1642G>A (p.Ala548Thr)
c.1807G>A (p.Ala603Thr)
c.1861G>A (p.Ala621Thr)
 COSMIC
2g.98396866G>CCA347834094CNGA3c.1696G>C (p.Ala566Pro)
c.1708G>C (p.Ala570Pro)
c.1642G>C (p.Ala548Pro)
c.1807G>C (p.Ala603Pro)
c.1861G>C (p.Ala621Pro)
2g.98396866G=CA1273420106CNGA3c.1696G= (p.Ala566=)
c.1708G= (p.Ala570=)
c.1642G= (p.Ala548=)
c.1807G= (p.Ala603=)
c.1861G= (p.Ala621=)
2g.98396866G>TCA1794072CNGA3c.1696G>T (p.Ala566Ser)
c.1708G>T (p.Ala570Ser)
c.1642G>T (p.Ala548Ser)
c.1807G>T (p.Ala603Ser)
c.1861G>T (p.Ala621Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched