Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.39022732_39022737dupCA2749574490SOS1n.1573_1578dup
c.460_465dup (p.Gln155_Met156insGluGln)
n.1914_1919dup
n.1700_1705dup
c.1582_1587dup (p.Gln529_Met530insGluGln)
c.1693_1698dup (p.Gln566_Met567insGluGln)
c.1786_1791dup (p.Gln597_Met598insGluGln)
c.1672_1677dup (p.Gln559_Met560insGluGln)
c.1669_1674dup (p.Gln558_Met559insGluGln)
c.1522_1527dup (p.Gln509_Met510insGluGln)
c.628_633dup (p.Gln211_Met212insGluGln)
2g.39022738_39022739delCA645529322SOS1n.1571_1572del
c.458_459del (p.Glu153GlyfsTer7)
n.1912_1913del
n.1698_1699del
c.1580_1581del (p.Glu527GlyfsTer7)
c.1691_1692del (p.Glu564GlyfsTer7)
c.1784_1785del (p.Glu595GlyfsTer7)
c.1670_1671del (p.Glu557GlyfsTer7)
c.1667_1668del (p.Glu556GlyfsTer7)
c.1520_1521del (p.Glu507GlyfsTer7)
c.626_627del (p.Glu209GlyfsTer7)
COSMIC
2g.39022737T>ACA346365607SOS1n.1571A>T
c.458A>T (p.Glu153Val)
n.1912A>T
n.1698A>T
c.1580A>T (p.Glu527Val)
c.1691A>T (p.Glu564Val)
c.1784A>T (p.Glu595Val)
c.1670A>T (p.Glu557Val)
c.1667A>T (p.Glu556Val)
c.1520A>T (p.Glu507Val)
c.626A>T (p.Glu209Val)
2g.39022737T>CCA1624561SOS1n.1571A>G
c.458A>G (p.Glu153Gly)
n.1912A>G
n.1698A>G
c.1580A>G (p.Glu527Gly)
c.1691A>G (p.Glu564Gly)
c.1784A>G (p.Glu595Gly)
c.1670A>G (p.Glu557Gly)
c.1667A>G (p.Glu556Gly)
c.1520A>G (p.Glu507Gly)
c.626A>G (p.Glu209Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022737T>GCA346365606SOS1n.1571A>C
c.458A>C (p.Glu153Ala)
n.1912A>C
n.1698A>C
c.1580A>C (p.Glu527Ala)
c.1691A>C (p.Glu564Ala)
c.1784A>C (p.Glu595Ala)
c.1670A>C (p.Glu557Ala)
c.1667A>C (p.Glu556Ala)
c.1520A>C (p.Glu507Ala)
c.626A>C (p.Glu209Ala)
dbSNP
2g.39022737T=CA1246139367SOS1n.1571A=
c.458A= (p.Glu153=)
n.1912A=
n.1698A=
c.1580A= (p.Glu527=)
c.1691A= (p.Glu564=)
c.1784A= (p.Glu595=)
c.1670A= (p.Glu557=)
c.1667A= (p.Glu556=)
c.1520A= (p.Glu507=)
c.626A= (p.Glu209=)
2g.39022738C>ACA346365608SOS1n.1570G>T
c.457G>T (p.Glu153Ter)
n.1911G>T
n.1697G>T
c.1579G>T (p.Glu527Ter)
c.1690G>T (p.Glu564Ter)
c.1783G>T (p.Glu595Ter)
c.1669G>T (p.Glu557Ter)
c.1666G>T (p.Glu556Ter)
c.1519G>T (p.Glu507Ter)
c.625G>T (p.Glu209Ter)
2g.39022738C=CA1246139371SOS1n.1570G=
c.457G= (p.Glu153=)
n.1911G=
n.1697G=
c.1579G= (p.Glu527=)
c.1690G= (p.Glu564=)
c.1783G= (p.Glu595=)
c.1669G= (p.Glu557=)
c.1666G= (p.Glu556=)
c.1519G= (p.Glu507=)
c.625G= (p.Glu209=)
2g.39022738C>GCA346365609SOS1n.1570G>C
c.457G>C (p.Glu153Gln)
n.1911G>C
n.1697G>C
c.1579G>C (p.Glu527Gln)
c.1690G>C (p.Glu564Gln)
c.1783G>C (p.Glu595Gln)
c.1669G>C (p.Glu557Gln)
c.1666G>C (p.Glu556Gln)
c.1519G>C (p.Glu507Gln)
c.625G>C (p.Glu209Gln)
gnomAD v4
2g.39022738C>TCA346365610SOS1n.1570G>A
c.457G>A (p.Glu153Lys)
n.1911G>A
n.1697G>A
c.1579G>A (p.Glu527Lys)
c.1690G>A (p.Glu564Lys)
c.1783G>A (p.Glu595Lys)
c.1669G>A (p.Glu557Lys)
c.1666G>A (p.Glu556Lys)
c.1519G>A (p.Glu507Lys)
c.625G>A (p.Glu209Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39022739T>ACA346365611SOS1n.1569A>T
c.456A>T (p.Lys152Asn)
n.1910A>T
n.1696A>T
c.1578A>T (p.Lys526Asn)
c.1689A>T (p.Lys563Asn)
c.1782A>T (p.Lys594Asn)
c.1668A>T (p.Lys556Asn)
c.1665A>T (p.Lys555Asn)
c.1518A>T (p.Lys506Asn)
c.624A>T (p.Lys208Asn)
2g.39022739T>CCA1624562SOS1n.1569A>G
c.456A>G (p.Lys152=)
n.1910A>G
n.1696A>G
c.1578A>G (p.Lys526=)
c.1689A>G (p.Lys563=)
c.1782A>G (p.Lys594=)
c.1668A>G (p.Lys556=)
c.1665A>G (p.Lys555=)
c.1518A>G (p.Lys506=)
c.624A>G (p.Lys208=)
ClinVar dbSNP ExAC gnomAD v2
2g.39022739T>GCA346365612SOS1n.1569A>C
c.456A>C (p.Lys152Asn)
n.1910A>C
n.1696A>C
c.1578A>C (p.Lys526Asn)
c.1689A>C (p.Lys563Asn)
c.1782A>C (p.Lys594Asn)
c.1668A>C (p.Lys556Asn)
c.1665A>C (p.Lys555Asn)
c.1518A>C (p.Lys506Asn)
c.624A>C (p.Lys208Asn)
gnomAD v4
2g.39022739T=CA1246139375SOS1n.1569A=
c.456A= (p.Lys152=)
n.1910A=
n.1696A=
c.1578A= (p.Lys526=)
c.1689A= (p.Lys563=)
c.1782A= (p.Lys594=)
c.1668A= (p.Lys556=)
c.1665A= (p.Lys555=)
c.1518A= (p.Lys506=)
c.624A= (p.Lys208=)
2g.39022740T>ACA346365613SOS1n.1568A>T
c.455A>T (p.Lys152Ile)
n.1909A>T
n.1695A>T
c.1577A>T (p.Lys526Ile)
c.1688A>T (p.Lys563Ile)
c.1781A>T (p.Lys594Ile)
c.1667A>T (p.Lys556Ile)
c.1664A>T (p.Lys555Ile)
c.1517A>T (p.Lys506Ile)
c.623A>T (p.Lys208Ile)
2g.39022740T>CCA1624563SOS1n.1568A>G
c.455A>G (p.Lys152Arg)
n.1909A>G
n.1695A>G
c.1577A>G (p.Lys526Arg)
c.1688A>G (p.Lys563Arg)
c.1781A>G (p.Lys594Arg)
c.1667A>G (p.Lys556Arg)
c.1664A>G (p.Lys555Arg)
c.1517A>G (p.Lys506Arg)
c.623A>G (p.Lys208Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022740T>GCA346365614SOS1n.1568A>C
c.455A>C (p.Lys152Thr)
n.1909A>C
n.1695A>C
c.1577A>C (p.Lys526Thr)
c.1688A>C (p.Lys563Thr)
c.1781A>C (p.Lys594Thr)
c.1667A>C (p.Lys556Thr)
c.1664A>C (p.Lys555Thr)
c.1517A>C (p.Lys506Thr)
c.623A>C (p.Lys208Thr)
2g.39022740T=CA1246139377SOS1n.1568A=
c.455A= (p.Lys152=)
n.1909A=
n.1695A=
c.1577A= (p.Lys526=)
c.1688A= (p.Lys563=)
c.1781A= (p.Lys594=)
c.1667A= (p.Lys556=)
c.1664A= (p.Lys555=)
c.1517A= (p.Lys506=)
c.623A= (p.Lys208=)
2g.39022741T>ACA346365615SOS1n.1567A>T
c.454A>T (p.Lys152Ter)
n.1908A>T
n.1694A>T
c.1576A>T (p.Lys526Ter)
c.1687A>T (p.Lys563Ter)
c.1780A>T (p.Lys594Ter)
c.1666A>T (p.Lys556Ter)
c.1663A>T (p.Lys555Ter)
c.1516A>T (p.Lys506Ter)
c.622A>T (p.Lys208Ter)
2g.39022741T>CCA346365616SOS1n.1567A>G
c.454A>G (p.Lys152Glu)
n.1908A>G
n.1694A>G
c.1576A>G (p.Lys526Glu)
c.1687A>G (p.Lys563Glu)
c.1780A>G (p.Lys594Glu)
c.1666A>G (p.Lys556Glu)
c.1663A>G (p.Lys555Glu)
c.1516A>G (p.Lys506Glu)
c.622A>G (p.Lys208Glu)
2g.39022741T>GCA346365617SOS1n.1567A>C
c.454A>C (p.Lys152Gln)
n.1908A>C
n.1694A>C
c.1576A>C (p.Lys526Gln)
c.1687A>C (p.Lys563Gln)
c.1780A>C (p.Lys594Gln)
c.1666A>C (p.Lys556Gln)
c.1663A>C (p.Lys555Gln)
c.1516A>C (p.Lys506Gln)
c.622A>C (p.Lys208Gln)
2g.39022742C>ACA346365618SOS1n.1566G>T
c.453G>T (p.Glu151Asp)
n.1907G>T
n.1693G>T
c.1575G>T (p.Glu525Asp)
c.1686G>T (p.Glu562Asp)
c.1779G>T (p.Glu593Asp)
c.1665G>T (p.Glu555Asp)
c.1662G>T (p.Glu554Asp)
c.1515G>T (p.Glu505Asp)
c.621G>T (p.Glu207Asp)
ClinVar dbSNP
2g.39022742C=CA1246139381SOS1n.1566G=
c.453G= (p.Glu151=)
n.1907G=
n.1693G=
c.1575G= (p.Glu525=)
c.1686G= (p.Glu562=)
c.1779G= (p.Glu593=)
c.1665G= (p.Glu555=)
c.1662G= (p.Glu554=)
c.1515G= (p.Glu505=)
c.621G= (p.Glu207=)
2g.39022742C>GCA45674453SOS1n.1566G>C
c.453G>C (p.Glu151Asp)
n.1907G>C
n.1693G>C
c.1575G>C (p.Glu525Asp)
c.1686G>C (p.Glu562Asp)
c.1779G>C (p.Glu593Asp)
c.1665G>C (p.Glu555Asp)
c.1662G>C (p.Glu554Asp)
c.1515G>C (p.Glu505Asp)
c.621G>C (p.Glu207Asp)
dbSNP gnomAD v3 gnomAD v4
2g.39022742C>TCA425866565SOS1n.1566G>A
c.453G>A (p.Glu151=)
n.1907G>A
n.1693G>A
c.1575G>A (p.Glu525=)
c.1686G>A (p.Glu562=)
c.1779G>A (p.Glu593=)
c.1665G>A (p.Glu555=)
c.1662G>A (p.Glu554=)
c.1515G>A (p.Glu505=)
c.621G>A (p.Glu207=)
2g.39022743T>ACA346365619SOS1n.1565A>T
c.452A>T (p.Glu151Val)
n.1906A>T
n.1692A>T
c.1574A>T (p.Glu525Val)
c.1685A>T (p.Glu562Val)
c.1778A>T (p.Glu593Val)
c.1664A>T (p.Glu555Val)
c.1661A>T (p.Glu554Val)
c.1514A>T (p.Glu505Val)
c.620A>T (p.Glu207Val)
2g.39022743T>CCA346365620SOS1n.1565A>G
c.452A>G (p.Glu151Gly)
n.1906A>G
n.1692A>G
c.1574A>G (p.Glu525Gly)
c.1685A>G (p.Glu562Gly)
c.1778A>G (p.Glu593Gly)
c.1664A>G (p.Glu555Gly)
c.1661A>G (p.Glu554Gly)
c.1514A>G (p.Glu505Gly)
c.620A>G (p.Glu207Gly)
gnomAD v4
2g.39022743T>GCA346365621SOS1n.1565A>C
c.452A>C (p.Glu151Ala)
n.1906A>C
n.1692A>C
c.1574A>C (p.Glu525Ala)
c.1685A>C (p.Glu562Ala)
c.1778A>C (p.Glu593Ala)
c.1664A>C (p.Glu555Ala)
c.1661A>C (p.Glu554Ala)
c.1514A>C (p.Glu505Ala)
c.620A>C (p.Glu207Ala)
2g.39022744C>ACA346365622SOS1n.1564G>T
c.451G>T (p.Glu151Ter)
n.1905G>T
n.1691G>T
c.1573G>T (p.Glu525Ter)
c.1684G>T (p.Glu562Ter)
c.1777G>T (p.Glu593Ter)
c.1663G>T (p.Glu555Ter)
c.1660G>T (p.Glu554Ter)
c.1513G>T (p.Glu505Ter)
c.619G>T (p.Glu207Ter)
2g.39022744C>GCA346365623SOS1n.1564G>C
c.451G>C (p.Glu151Gln)
n.1905G>C
n.1691G>C
c.1573G>C (p.Glu525Gln)
c.1684G>C (p.Glu562Gln)
c.1777G>C (p.Glu593Gln)
c.1663G>C (p.Glu555Gln)
c.1660G>C (p.Glu554Gln)
c.1513G>C (p.Glu505Gln)
c.619G>C (p.Glu207Gln)
2g.39022744C>TCA346365624SOS1n.1564G>A
c.451G>A (p.Glu151Lys)
n.1905G>A
n.1691G>A
c.1573G>A (p.Glu525Lys)
c.1684G>A (p.Glu562Lys)
c.1777G>A (p.Glu593Lys)
c.1663G>A (p.Glu555Lys)
c.1660G>A (p.Glu554Lys)
c.1513G>A (p.Glu505Lys)
c.619G>A (p.Glu207Lys)
2g.39022745T>ACA346365625SOS1n.1563A>T
c.450A>T (p.Glu150Asp)
n.1904A>T
n.1690A>T
c.1572A>T (p.Glu524Asp)
c.1683A>T (p.Glu561Asp)
c.1776A>T (p.Glu592Asp)
c.1662A>T (p.Glu554Asp)
c.1659A>T (p.Glu553Asp)
c.1512A>T (p.Glu504Asp)
c.618A>T (p.Glu206Asp)
2g.39022745T>CCA425866567SOS1n.1563A>G
c.450A>G (p.Glu150=)
n.1904A>G
n.1690A>G
c.1572A>G (p.Glu524=)
c.1683A>G (p.Glu561=)
c.1776A>G (p.Glu592=)
c.1662A>G (p.Glu554=)
c.1659A>G (p.Glu553=)
c.1512A>G (p.Glu504=)
c.618A>G (p.Glu206=)
2g.39022745T>GCA346365626SOS1n.1563A>C
c.450A>C (p.Glu150Asp)
n.1904A>C
n.1690A>C
c.1572A>C (p.Glu524Asp)
c.1683A>C (p.Glu561Asp)
c.1776A>C (p.Glu592Asp)
c.1662A>C (p.Glu554Asp)
c.1659A>C (p.Glu553Asp)
c.1512A>C (p.Glu504Asp)
c.618A>C (p.Glu206Asp)
2g.39022746T>ACA346365627SOS1n.1562A>T
c.449A>T (p.Glu150Val)
n.1903A>T
n.1689A>T
c.1571A>T (p.Glu524Val)
c.1682A>T (p.Glu561Val)
c.1775A>T (p.Glu592Val)
c.1661A>T (p.Glu554Val)
c.1658A>T (p.Glu553Val)
c.1511A>T (p.Glu504Val)
c.617A>T (p.Glu206Val)
2g.39022746T>CCA1624564SOS1n.1562A>G
c.449A>G (p.Glu150Gly)
n.1903A>G
n.1689A>G
c.1571A>G (p.Glu524Gly)
c.1682A>G (p.Glu561Gly)
c.1775A>G (p.Glu592Gly)
c.1661A>G (p.Glu554Gly)
c.1658A>G (p.Glu553Gly)
c.1511A>G (p.Glu504Gly)
c.617A>G (p.Glu206Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022746T>GCA346365628SOS1n.1562A>C
c.449A>C (p.Glu150Ala)
n.1903A>C
n.1689A>C
c.1571A>C (p.Glu524Ala)
c.1682A>C (p.Glu561Ala)
c.1775A>C (p.Glu592Ala)
c.1661A>C (p.Glu554Ala)
c.1658A>C (p.Glu553Ala)
c.1511A>C (p.Glu504Ala)
c.617A>C (p.Glu206Ala)
2g.39022746T=CA1246139386SOS1n.1562A=
c.449A= (p.Glu150=)
n.1903A=
n.1689A=
c.1571A= (p.Glu524=)
c.1682A= (p.Glu561=)
c.1775A= (p.Glu592=)
c.1661A= (p.Glu554=)
c.1658A= (p.Glu553=)
c.1511A= (p.Glu504=)
c.617A= (p.Glu206=)
2g.39022747C>ACA346365629SOS1n.1561G>T
c.448G>T (p.Glu150Ter)
n.1902G>T
n.1688G>T
c.1570G>T (p.Glu524Ter)
c.1681G>T (p.Glu561Ter)
c.1774G>T (p.Glu592Ter)
c.1660G>T (p.Glu554Ter)
c.1657G>T (p.Glu553Ter)
c.1510G>T (p.Glu504Ter)
c.616G>T (p.Glu206Ter)
2g.39022747C=CA1246139389SOS1n.1561G=
c.448G= (p.Glu150=)
n.1902G=
n.1688G=
c.1570G= (p.Glu524=)
c.1681G= (p.Glu561=)
c.1774G= (p.Glu592=)
c.1660G= (p.Glu554=)
c.1657G= (p.Glu553=)
c.1510G= (p.Glu504=)
c.616G= (p.Glu206=)
2g.39022747C>GCA346365630SOS1n.1561G>C
c.448G>C (p.Glu150Gln)
n.1902G>C
n.1688G>C
c.1570G>C (p.Glu524Gln)
c.1681G>C (p.Glu561Gln)
c.1774G>C (p.Glu592Gln)
c.1660G>C (p.Glu554Gln)
c.1657G>C (p.Glu553Gln)
c.1510G>C (p.Glu504Gln)
c.616G>C (p.Glu206Gln)
2g.39022747C>TCA346365631SOS1n.1561G>A
c.448G>A (p.Glu150Lys)
n.1902G>A
n.1688G>A
c.1570G>A (p.Glu524Lys)
c.1681G>A (p.Glu561Lys)
c.1774G>A (p.Glu592Lys)
c.1660G>A (p.Glu554Lys)
c.1657G>A (p.Glu553Lys)
c.1510G>A (p.Glu504Lys)
c.616G>A (p.Glu206Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022748C>ACA346365632SOS1n.1560G>T
c.447G>T (p.Gln149His)
n.1901G>T
n.1687G>T
c.1569G>T (p.Gln523His)
c.1680G>T (p.Gln560His)
c.1773G>T (p.Gln591His)
c.1659G>T (p.Gln553His)
c.1656G>T (p.Gln552His)
c.1509G>T (p.Gln503His)
c.615G>T (p.Gln205His)
2g.39022748C>GCA346365633SOS1n.1560G>C
c.447G>C (p.Gln149His)
n.1901G>C
n.1687G>C
c.1569G>C (p.Gln523His)
c.1680G>C (p.Gln560His)
c.1773G>C (p.Gln591His)
c.1659G>C (p.Gln553His)
c.1656G>C (p.Gln552His)
c.1509G>C (p.Gln503His)
c.615G>C (p.Gln205His)
2g.39022748C>TCA425866570SOS1n.1560G>A
c.447G>A (p.Gln149=)
n.1901G>A
n.1687G>A
c.1569G>A (p.Gln523=)
c.1680G>A (p.Gln560=)
c.1773G>A (p.Gln591=)
c.1659G>A (p.Gln553=)
c.1656G>A (p.Gln552=)
c.1509G>A (p.Gln503=)
c.615G>A (p.Gln205=)
2g.39022749T>ACA346365634SOS1n.1559A>T
c.446A>T (p.Gln149Leu)
n.1900A>T
n.1686A>T
c.1568A>T (p.Gln523Leu)
c.1679A>T (p.Gln560Leu)
c.1772A>T (p.Gln591Leu)
c.1658A>T (p.Gln553Leu)
c.1655A>T (p.Gln552Leu)
c.1508A>T (p.Gln503Leu)
c.614A>T (p.Gln205Leu)
2g.39022749T>CCA346365635SOS1n.1559A>G
c.446A>G (p.Gln149Arg)
n.1900A>G
n.1686A>G
c.1568A>G (p.Gln523Arg)
c.1679A>G (p.Gln560Arg)
c.1772A>G (p.Gln591Arg)
c.1658A>G (p.Gln553Arg)
c.1655A>G (p.Gln552Arg)
c.1508A>G (p.Gln503Arg)
c.614A>G (p.Gln205Arg)
2g.39022749T>GCA346365636SOS1n.1559A>C
c.446A>C (p.Gln149Pro)
n.1900A>C
n.1686A>C
c.1568A>C (p.Gln523Pro)
c.1679A>C (p.Gln560Pro)
c.1772A>C (p.Gln591Pro)
c.1658A>C (p.Gln553Pro)
c.1655A>C (p.Gln552Pro)
c.1508A>C (p.Gln503Pro)
c.614A>C (p.Gln205Pro)
2g.39022750G>ACA346365637SOS1n.1558C>T
c.445C>T (p.Gln149Ter)
n.1899C>T
n.1685C>T
c.1567C>T (p.Gln523Ter)
c.1678C>T (p.Gln560Ter)
c.1771C>T (p.Gln591Ter)
c.1657C>T (p.Gln553Ter)
c.1654C>T (p.Gln552Ter)
c.1507C>T (p.Gln503Ter)
c.613C>T (p.Gln205Ter)
2g.39022750G>CCA346365638SOS1n.1558C>G
c.445C>G (p.Gln149Glu)
n.1899C>G
n.1685C>G
c.1567C>G (p.Gln523Glu)
c.1678C>G (p.Gln560Glu)
c.1771C>G (p.Gln591Glu)
c.1657C>G (p.Gln553Glu)
c.1654C>G (p.Gln552Glu)
c.1507C>G (p.Gln503Glu)
c.613C>G (p.Gln205Glu)
2g.39022750G>TCA346365639SOS1n.1558C>A
c.445C>A (p.Gln149Lys)
n.1899C>A
n.1685C>A
c.1567C>A (p.Gln523Lys)
c.1678C>A (p.Gln560Lys)
c.1771C>A (p.Gln591Lys)
c.1657C>A (p.Gln553Lys)
c.1654C>A (p.Gln552Lys)
c.1507C>A (p.Gln503Lys)
c.613C>A (p.Gln205Lys)
2g.39022751T>ACA425866573SOS1n.1557A>T
c.444A>T (p.Leu148=)
n.1898A>T
n.1684A>T
c.1566A>T (p.Leu522=)
c.1677A>T (p.Leu559=)
c.1770A>T (p.Leu590=)
c.1656A>T (p.Leu552=)
c.1653A>T (p.Leu551=)
c.1506A>T (p.Leu502=)
c.612A>T (p.Leu204=)
2g.39022751T>CCA1624565SOS1n.1557A>G
c.444A>G (p.Leu148=)
n.1898A>G
n.1684A>G
c.1566A>G (p.Leu522=)
c.1677A>G (p.Leu559=)
c.1770A>G (p.Leu590=)
c.1656A>G (p.Leu552=)
c.1653A>G (p.Leu551=)
c.1506A>G (p.Leu502=)
c.612A>G (p.Leu204=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022751T>GCA425866574SOS1n.1557A>C
c.444A>C (p.Leu148=)
n.1898A>C
n.1684A>C
c.1566A>C (p.Leu522=)
c.1677A>C (p.Leu559=)
c.1770A>C (p.Leu590=)
c.1656A>C (p.Leu552=)
c.1653A>C (p.Leu551=)
c.1506A>C (p.Leu502=)
c.612A>C (p.Leu204=)
2g.39022751T=CA1246139391SOS1n.1557A=
c.444A= (p.Leu148=)
n.1898A=
n.1684A=
c.1566A= (p.Leu522=)
c.1677A= (p.Leu559=)
c.1770A= (p.Leu590=)
c.1656A= (p.Leu552=)
c.1653A= (p.Leu551=)
c.1506A= (p.Leu502=)
c.612A= (p.Leu204=)
2g.39022752A=CA1246139393SOS1n.1556T=
c.443T= (p.Leu148=)
n.1897T=
n.1683T=
c.1565T= (p.Leu522=)
c.1676T= (p.Leu559=)
c.1769T= (p.Leu590=)
c.1655T= (p.Leu552=)
c.1652T= (p.Leu551=)
c.1505T= (p.Leu502=)
c.611T= (p.Leu204=)
2g.39022752A>CCA346365640SOS1n.1556T>G
c.443T>G (p.Leu148Arg)
n.1897T>G
n.1683T>G
c.1565T>G (p.Leu522Arg)
c.1676T>G (p.Leu559Arg)
c.1769T>G (p.Leu590Arg)
c.1655T>G (p.Leu552Arg)
c.1652T>G (p.Leu551Arg)
c.1505T>G (p.Leu502Arg)
c.611T>G (p.Leu204Arg)
2g.39022752A>GCA346365641SOS1n.1556T>C
c.443T>C (p.Leu148Pro)
n.1897T>C
n.1683T>C
c.1565T>C (p.Leu522Pro)
c.1676T>C (p.Leu559Pro)
c.1769T>C (p.Leu590Pro)
c.1655T>C (p.Leu552Pro)
c.1652T>C (p.Leu551Pro)
c.1505T>C (p.Leu502Pro)
c.611T>C (p.Leu204Pro)
dbSNP gnomAD v4
2g.39022752A>TCA346365642SOS1n.1556T>A
c.443T>A (p.Leu148Gln)
n.1897T>A
n.1683T>A
c.1565T>A (p.Leu522Gln)
c.1676T>A (p.Leu559Gln)
c.1769T>A (p.Leu590Gln)
c.1655T>A (p.Leu552Gln)
c.1652T>A (p.Leu551Gln)
c.1505T>A (p.Leu502Gln)
c.611T>A (p.Leu204Gln)
2g.39022753G>ACA425866576SOS1n.1555C>T
c.442C>T (p.Leu148=)
n.1896C>T
n.1682C>T
c.1564C>T (p.Leu522=)
c.1675C>T (p.Leu559=)
c.1768C>T (p.Leu590=)
c.1654C>T (p.Leu552=)
c.1651C>T (p.Leu551=)
c.1504C>T (p.Leu502=)
c.610C>T (p.Leu204=)
2g.39022753G>CCA346365643SOS1n.1555C>G
c.442C>G (p.Leu148Val)
n.1896C>G
n.1682C>G
c.1564C>G (p.Leu522Val)
c.1675C>G (p.Leu559Val)
c.1768C>G (p.Leu590Val)
c.1654C>G (p.Leu552Val)
c.1651C>G (p.Leu551Val)
c.1504C>G (p.Leu502Val)
c.610C>G (p.Leu204Val)
2g.39022753G>TCA346365644SOS1n.1555C>A
c.442C>A (p.Leu148Ile)
n.1896C>A
n.1682C>A
c.1564C>A (p.Leu522Ile)
c.1675C>A (p.Leu559Ile)
c.1768C>A (p.Leu590Ile)
c.1654C>A (p.Leu552Ile)
c.1651C>A (p.Leu551Ile)
c.1504C>A (p.Leu502Ile)
c.610C>A (p.Leu204Ile)
ClinVar
2g.39022754C>ACA346365646SOS1n.1554G>T
c.441G>T (p.Met147Ile)
n.1895G>T
n.1681G>T
c.1563G>T (p.Met521Ile)
c.1674G>T (p.Met558Ile)
c.1767G>T (p.Met589Ile)
c.1653G>T (p.Met551Ile)
c.1650G>T (p.Met550Ile)
c.1503G>T (p.Met501Ile)
c.609G>T (p.Met203Ile)
gnomAD v4
2g.39022754C=CA1246139397SOS1n.1554G=
c.441G= (p.Met147=)
n.1895G=
n.1681G=
c.1563G= (p.Met521=)
c.1674G= (p.Met558=)
c.1767G= (p.Met589=)
c.1653G= (p.Met551=)
c.1650G= (p.Met550=)
c.1503G= (p.Met501=)
c.609G= (p.Met203=)
2g.39022754C>GCA346365645SOS1n.1554G>C
c.441G>C (p.Met147Ile)
n.1895G>C
n.1681G>C
c.1563G>C (p.Met521Ile)
c.1674G>C (p.Met558Ile)
c.1767G>C (p.Met589Ile)
c.1653G>C (p.Met551Ile)
c.1650G>C (p.Met550Ile)
c.1503G>C (p.Met501Ile)
c.609G>C (p.Met203Ile)
2g.39022754C>TCA1624566SOS1n.1554G>A
c.441G>A (p.Met147Ile)
n.1895G>A
n.1681G>A
c.1563G>A (p.Met521Ile)
c.1674G>A (p.Met558Ile)
c.1767G>A (p.Met589Ile)
c.1653G>A (p.Met551Ile)
c.1650G>A (p.Met550Ile)
c.1503G>A (p.Met501Ile)
c.609G>A (p.Met203Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022755A=CA1246139403SOS1n.1553T=
c.440T= (p.Met147=)
n.1894T=
n.1680T=
c.1562T= (p.Met521=)
c.1673T= (p.Met558=)
c.1766T= (p.Met589=)
c.1652T= (p.Met551=)
c.1649T= (p.Met550=)
c.1502T= (p.Met501=)
c.608T= (p.Met203=)
2g.39022755A>CCA346365647SOS1n.1553T>G
c.440T>G (p.Met147Arg)
n.1894T>G
n.1680T>G
c.1562T>G (p.Met521Arg)
c.1673T>G (p.Met558Arg)
c.1766T>G (p.Met589Arg)
c.1652T>G (p.Met551Arg)
c.1649T>G (p.Met550Arg)
c.1502T>G (p.Met501Arg)
c.608T>G (p.Met203Arg)
2g.39022755A>GCA45674496SOS1n.1553T>C
c.440T>C (p.Met147Thr)
n.1894T>C
n.1680T>C
c.1562T>C (p.Met521Thr)
c.1673T>C (p.Met558Thr)
c.1766T>C (p.Met589Thr)
c.1652T>C (p.Met551Thr)
c.1649T>C (p.Met550Thr)
c.1502T>C (p.Met501Thr)
c.608T>C (p.Met203Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022755A>TCA346365648SOS1n.1553T>A
c.440T>A (p.Met147Lys)
n.1894T>A
n.1680T>A
c.1562T>A (p.Met521Lys)
c.1673T>A (p.Met558Lys)
c.1766T>A (p.Met589Lys)
c.1652T>A (p.Met551Lys)
c.1649T>A (p.Met550Lys)
c.1502T>A (p.Met501Lys)
c.608T>A (p.Met203Lys)
2g.39022755_39022768delinsTTCA2586964743SOS1n.1540_1553delinsAA
c.427_440delinsAA (p.Leu143_Met147delinsLys)
n.1881_1894delinsAA
n.1667_1680delinsAA
c.1549_1562delinsAA (p.Leu517_Met521delinsLys)
c.1660_1673delinsAA (p.Leu554_Met558delinsLys)
c.1753_1766delinsAA (p.Leu585_Met589delinsLys)
c.1639_1652delinsAA (p.Leu547_Met551delinsLys)
c.1636_1649delinsAA (p.Leu546_Met550delinsLys)
c.1489_1502delinsAA (p.Leu497_Met501delinsLys)
c.595_608delinsAA (p.Leu199_Met203delinsLys)
2g.39022756T>ACA346365649SOS1n.1552A>T
c.439A>T (p.Met147Leu)
n.1893A>T
n.1679A>T
c.1561A>T (p.Met521Leu)
c.1672A>T (p.Met558Leu)
c.1765A>T (p.Met589Leu)
c.1651A>T (p.Met551Leu)
c.1648A>T (p.Met550Leu)
c.1501A>T (p.Met501Leu)
c.607A>T (p.Met203Leu)
2g.39022756T>CCA1624567SOS1n.1552A>G
c.439A>G (p.Met147Val)
n.1893A>G
n.1679A>G
c.1561A>G (p.Met521Val)
c.1672A>G (p.Met558Val)
c.1765A>G (p.Met589Val)
c.1651A>G (p.Met551Val)
c.1648A>G (p.Met550Val)
c.1501A>G (p.Met501Val)
c.607A>G (p.Met203Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022756T>GCA346365650SOS1n.1552A>C
c.439A>C (p.Met147Leu)
n.1893A>C
n.1679A>C
c.1561A>C (p.Met521Leu)
c.1672A>C (p.Met558Leu)
c.1765A>C (p.Met589Leu)
c.1651A>C (p.Met551Leu)
c.1648A>C (p.Met550Leu)
c.1501A>C (p.Met501Leu)
c.607A>C (p.Met203Leu)
2g.39022756T=CA1246139412SOS1n.1552A=
c.439A= (p.Met147=)
n.1893A=
n.1679A=
c.1561A= (p.Met521=)
c.1672A= (p.Met558=)
c.1765A= (p.Met589=)
c.1651A= (p.Met551=)
c.1648A= (p.Met550=)
c.1501A= (p.Met501=)
c.607A= (p.Met203=)
2g.39022757T>ACA425866578SOS1n.1551A>T
c.438A>T (p.Thr146=)
n.1892A>T
n.1678A>T
c.1560A>T (p.Thr520=)
c.1671A>T (p.Thr557=)
c.1764A>T (p.Thr588=)
c.1650A>T (p.Thr550=)
c.1647A>T (p.Thr549=)
c.1500A>T (p.Thr500=)
c.606A>T (p.Thr202=)
2g.39022757T>CCA425866580SOS1n.1551A>G
c.438A>G (p.Thr146=)
n.1892A>G
n.1678A>G
c.1560A>G (p.Thr520=)
c.1671A>G (p.Thr557=)
c.1764A>G (p.Thr588=)
c.1650A>G (p.Thr550=)
c.1647A>G (p.Thr549=)
c.1500A>G (p.Thr500=)
c.606A>G (p.Thr202=)
2g.39022757T>GCA425866581SOS1n.1551A>C
c.438A>C (p.Thr146=)
n.1892A>C
n.1678A>C
c.1560A>C (p.Thr520=)
c.1671A>C (p.Thr557=)
c.1764A>C (p.Thr588=)
c.1650A>C (p.Thr550=)
c.1647A>C (p.Thr549=)
c.1500A>C (p.Thr500=)
c.606A>C (p.Thr202=)
2g.39022758G>ACA346365651SOS1n.1550C>T
c.437C>T (p.Thr146Ile)
n.1891C>T
n.1677C>T
c.1559C>T (p.Thr520Ile)
c.1670C>T (p.Thr557Ile)
c.1763C>T (p.Thr588Ile)
c.1649C>T (p.Thr550Ile)
c.1646C>T (p.Thr549Ile)
c.1499C>T (p.Thr500Ile)
c.605C>T (p.Thr202Ile)
ClinVar dbSNP gnomAD v4
2g.39022758G>CCA346365652SOS1n.1550C>G
c.437C>G (p.Thr146Arg)
n.1891C>G
n.1677C>G
c.1559C>G (p.Thr520Arg)
c.1670C>G (p.Thr557Arg)
c.1763C>G (p.Thr588Arg)
c.1649C>G (p.Thr550Arg)
c.1646C>G (p.Thr549Arg)
c.1499C>G (p.Thr500Arg)
c.605C>G (p.Thr202Arg)
dbSNP gnomAD v2 gnomAD v4
2g.39022758G=CA1246139415SOS1n.1550C=
c.437C= (p.Thr146=)
n.1891C=
n.1677C=
c.1559C= (p.Thr520=)
c.1670C= (p.Thr557=)
c.1763C= (p.Thr588=)
c.1649C= (p.Thr550=)
c.1646C= (p.Thr549=)
c.1499C= (p.Thr500=)
c.605C= (p.Thr202=)
2g.39022758G>TCA346365653SOS1n.1550C>A
c.437C>A (p.Thr146Lys)
n.1891C>A
n.1677C>A
c.1559C>A (p.Thr520Lys)
c.1670C>A (p.Thr557Lys)
c.1763C>A (p.Thr588Lys)
c.1649C>A (p.Thr550Lys)
c.1646C>A (p.Thr549Lys)
c.1499C>A (p.Thr500Lys)
c.605C>A (p.Thr202Lys)
2g.39022759T>ACA346365654SOS1n.1549A>T
c.436A>T (p.Thr146Ser)
n.1890A>T
n.1676A>T
c.1558A>T (p.Thr520Ser)
c.1669A>T (p.Thr557Ser)
c.1762A>T (p.Thr588Ser)
c.1648A>T (p.Thr550Ser)
c.1645A>T (p.Thr549Ser)
c.1498A>T (p.Thr500Ser)
c.604A>T (p.Thr202Ser)
2g.39022759T>CCA346365655SOS1n.1549A>G
c.436A>G (p.Thr146Ala)
n.1890A>G
n.1676A>G
c.1558A>G (p.Thr520Ala)
c.1669A>G (p.Thr557Ala)
c.1762A>G (p.Thr588Ala)
c.1648A>G (p.Thr550Ala)
c.1645A>G (p.Thr549Ala)
c.1498A>G (p.Thr500Ala)
c.604A>G (p.Thr202Ala)
2g.39022759T>GCA346365656SOS1n.1549A>C
c.436A>C (p.Thr146Pro)
n.1890A>C
n.1676A>C
c.1558A>C (p.Thr520Pro)
c.1669A>C (p.Thr557Pro)
c.1762A>C (p.Thr588Pro)
c.1648A>C (p.Thr550Pro)
c.1645A>C (p.Thr549Pro)
c.1498A>C (p.Thr500Pro)
c.604A>C (p.Thr202Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.39022759T=CA1246139417SOS1n.1549A=
c.436A= (p.Thr146=)
n.1890A=
n.1676A=
c.1558A= (p.Thr520=)
c.1669A= (p.Thr557=)
c.1762A= (p.Thr588=)
c.1648A= (p.Thr550=)
c.1645A= (p.Thr549=)
c.1498A= (p.Thr500=)
c.604A= (p.Thr202=)
2g.39022760T>ACA425866583SOS1n.1548A>T
c.435A>T (p.Val145=)
n.1889A>T
n.1675A>T
c.1557A>T (p.Val519=)
c.1668A>T (p.Val556=)
c.1761A>T (p.Val587=)
c.1647A>T (p.Val549=)
c.1644A>T (p.Val548=)
c.1497A>T (p.Val499=)
c.603A>T (p.Val201=)
2g.39022760T>CCA425866584SOS1n.1548A>G
c.435A>G (p.Val145=)
n.1889A>G
n.1675A>G
c.1557A>G (p.Val519=)
c.1668A>G (p.Val556=)
c.1761A>G (p.Val587=)
c.1647A>G (p.Val549=)
c.1644A>G (p.Val548=)
c.1497A>G (p.Val499=)
c.603A>G (p.Val201=)
2g.39022760T>GCA235352SOS1n.1548A>C
c.435A>C (p.Val145=)
n.1889A>C
n.1675A>C
c.1557A>C (p.Val519=)
c.1668A>C (p.Val556=)
c.1761A>C (p.Val587=)
c.1647A>C (p.Val549=)
c.1644A>C (p.Val548=)
c.1497A>C (p.Val499=)
c.603A>C (p.Val201=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022760T=CA1246139420SOS1n.1548A=
c.435A= (p.Val145=)
n.1889A=
n.1675A=
c.1557A= (p.Val519=)
c.1668A= (p.Val556=)
c.1761A= (p.Val587=)
c.1647A= (p.Val549=)
c.1644A= (p.Val548=)
c.1497A= (p.Val499=)
c.603A= (p.Val201=)
2g.39022761A=CA1246139423SOS1n.1547T=
c.434T= (p.Val145=)
n.1888T=
n.1674T=
c.1556T= (p.Val519=)
c.1667T= (p.Val556=)
c.1760T= (p.Val587=)
c.1646T= (p.Val549=)
c.1643T= (p.Val548=)
c.1496T= (p.Val499=)
c.602T= (p.Val201=)
2g.39022761A>CCA346365659SOS1n.1547T>G
c.434T>G (p.Val145Gly)
n.1888T>G
n.1674T>G
c.1556T>G (p.Val519Gly)
c.1667T>G (p.Val556Gly)
c.1760T>G (p.Val587Gly)
c.1646T>G (p.Val549Gly)
c.1643T>G (p.Val548Gly)
c.1496T>G (p.Val499Gly)
c.602T>G (p.Val201Gly)
2g.39022761A>GCA346365658SOS1n.1547T>C
c.434T>C (p.Val145Ala)
n.1888T>C
n.1674T>C
c.1556T>C (p.Val519Ala)
c.1667T>C (p.Val556Ala)
c.1760T>C (p.Val587Ala)
c.1646T>C (p.Val549Ala)
c.1643T>C (p.Val548Ala)
c.1496T>C (p.Val499Ala)
c.602T>C (p.Val201Ala)
dbSNP
2g.39022761A>TCA346365657SOS1n.1547T>A
c.434T>A (p.Val145Glu)
n.1888T>A
n.1674T>A
c.1556T>A (p.Val519Glu)
c.1667T>A (p.Val556Glu)
c.1760T>A (p.Val587Glu)
c.1646T>A (p.Val549Glu)
c.1643T>A (p.Val548Glu)
c.1496T>A (p.Val499Glu)
c.602T>A (p.Val201Glu)
dbSNP
2g.39022762C>ACA346365660SOS1n.1546G>T
c.433G>T (p.Val145Leu)
n.1887G>T
n.1673G>T
c.1555G>T (p.Val519Leu)
c.1666G>T (p.Val556Leu)
c.1759G>T (p.Val587Leu)
c.1645G>T (p.Val549Leu)
c.1642G>T (p.Val548Leu)
c.1495G>T (p.Val499Leu)
c.601G>T (p.Val201Leu)
dbSNP gnomAD v3 gnomAD v4
2g.39022762C=CA1246139426SOS1n.1546G=
c.433G= (p.Val145=)
n.1887G=
n.1673G=
c.1555G= (p.Val519=)
c.1666G= (p.Val556=)
c.1759G= (p.Val587=)
c.1645G= (p.Val549=)
c.1642G= (p.Val548=)
c.1495G= (p.Val499=)
c.601G= (p.Val201=)
2g.39022762C>GCA1624568SOS1n.1546G>C
c.433G>C (p.Val145Leu)
n.1887G>C
n.1673G>C
c.1555G>C (p.Val519Leu)
c.1666G>C (p.Val556Leu)
c.1759G>C (p.Val587Leu)
c.1645G>C (p.Val549Leu)
c.1642G>C (p.Val548Leu)
c.1495G>C (p.Val499Leu)
c.601G>C (p.Val201Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022762C>TCA346365661SOS1n.1546G>A
c.433G>A (p.Val145Ile)
n.1887G>A
n.1673G>A
c.1555G>A (p.Val519Ile)
c.1666G>A (p.Val556Ile)
c.1759G>A (p.Val587Ile)
c.1645G>A (p.Val549Ile)
c.1642G>A (p.Val548Ile)
c.1495G>A (p.Val499Ile)
c.601G>A (p.Val201Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39022763A=CA1246139433SOS1n.1545T=
c.432T= (p.Asp144=)
n.1886T=
n.1672T=
c.1554T= (p.Asp518=)
c.1665T= (p.Asp555=)
c.1758T= (p.Asp586=)
c.1644T= (p.Asp548=)
c.1641T= (p.Asp547=)
c.1494T= (p.Asp498=)
c.600T= (p.Asp200=)
2g.39022763A>CCA346365662SOS1n.1545T>G
c.432T>G (p.Asp144Glu)
n.1886T>G
n.1672T>G
c.1554T>G (p.Asp518Glu)
c.1665T>G (p.Asp555Glu)
c.1758T>G (p.Asp586Glu)
c.1644T>G (p.Asp548Glu)
c.1641T>G (p.Asp547Glu)
c.1494T>G (p.Asp498Glu)
c.600T>G (p.Asp200Glu)
2g.39022763A>GCA425866588SOS1n.1545T>C
c.432T>C (p.Asp144=)
n.1886T>C
n.1672T>C
c.1554T>C (p.Asp518=)
c.1665T>C (p.Asp555=)
c.1758T>C (p.Asp586=)
c.1644T>C (p.Asp548=)
c.1641T>C (p.Asp547=)
c.1494T>C (p.Asp498=)
c.600T>C (p.Asp200=)
dbSNP gnomAD v3 gnomAD v4
2g.39022763A>TCA346365663SOS1n.1545T>A
c.432T>A (p.Asp144Glu)
n.1886T>A
n.1672T>A
c.1554T>A (p.Asp518Glu)
c.1665T>A (p.Asp555Glu)
c.1758T>A (p.Asp586Glu)
c.1644T>A (p.Asp548Glu)
c.1641T>A (p.Asp547Glu)
c.1494T>A (p.Asp498Glu)
c.600T>A (p.Asp200Glu)
2g.39022764T>ACA346365664SOS1n.1544A>T
c.431A>T (p.Asp144Val)
n.1885A>T
n.1671A>T
c.1553A>T (p.Asp518Val)
c.1664A>T (p.Asp555Val)
c.1757A>T (p.Asp586Val)
c.1643A>T (p.Asp548Val)
c.1640A>T (p.Asp547Val)
c.1493A>T (p.Asp498Val)
c.599A>T (p.Asp200Val)
gnomAD v4
2g.39022764T>CCA346365665SOS1n.1544A>G
c.431A>G (p.Asp144Gly)
n.1885A>G
n.1671A>G
c.1553A>G (p.Asp518Gly)
c.1664A>G (p.Asp555Gly)
c.1757A>G (p.Asp586Gly)
c.1643A>G (p.Asp548Gly)
c.1640A>G (p.Asp547Gly)
c.1493A>G (p.Asp498Gly)
c.599A>G (p.Asp200Gly)
2g.39022764T>GCA346365666SOS1n.1544A>C
c.431A>C (p.Asp144Ala)
n.1885A>C
n.1671A>C
c.1553A>C (p.Asp518Ala)
c.1664A>C (p.Asp555Ala)
c.1757A>C (p.Asp586Ala)
c.1643A>C (p.Asp548Ala)
c.1640A>C (p.Asp547Ala)
c.1493A>C (p.Asp498Ala)
c.599A>C (p.Asp200Ala)
ClinVar
2g.39022766_39022777delCA2586964748SOS1n.1533_1544del
c.420_431del (p.Glu140_Leu143del)
n.1874_1885del
n.1660_1671del
c.1542_1553del (p.Glu514_Leu517del)
c.1653_1664del (p.Glu551_Leu554del)
c.1746_1757del (p.Glu582_Leu585del)
c.1632_1643del (p.Glu544_Leu547del)
c.1629_1640del (p.Glu543_Leu546del)
c.1482_1493del (p.Glu494_Leu497del)
c.588_599del (p.Glu196_Leu199del)
2g.39022765C>ACA346365667SOS1n.1543G>T
c.430G>T (p.Asp144Tyr)
n.1884G>T
n.1670G>T
c.1552G>T (p.Asp518Tyr)
c.1663G>T (p.Asp555Tyr)
c.1756G>T (p.Asp586Tyr)
c.1642G>T (p.Asp548Tyr)
c.1639G>T (p.Asp547Tyr)
c.1492G>T (p.Asp498Tyr)
c.598G>T (p.Asp200Tyr)
2g.39022765C>GCA346365668SOS1n.1543G>C
c.430G>C (p.Asp144His)
n.1884G>C
n.1670G>C
c.1552G>C (p.Asp518His)
c.1663G>C (p.Asp555His)
c.1756G>C (p.Asp586His)
c.1642G>C (p.Asp548His)
c.1639G>C (p.Asp547His)
c.1492G>C (p.Asp498His)
c.598G>C (p.Asp200His)
2g.39022765C>TCA346365669SOS1n.1543G>A
c.430G>A (p.Asp144Asn)
n.1884G>A
n.1670G>A
c.1552G>A (p.Asp518Asn)
c.1663G>A (p.Asp555Asn)
c.1756G>A (p.Asp586Asn)
c.1642G>A (p.Asp548Asn)
c.1639G>A (p.Asp547Asn)
c.1492G>A (p.Asp498Asn)
c.598G>A (p.Asp200Asn)
ClinVar
2g.39022766A>CCA425866590SOS1n.1542T>G
c.429T>G (p.Leu143=)
n.1883T>G
n.1669T>G
c.1551T>G (p.Leu517=)
c.1662T>G (p.Leu554=)
c.1755T>G (p.Leu585=)
c.1641T>G (p.Leu547=)
c.1638T>G (p.Leu546=)
c.1491T>G (p.Leu497=)
c.597T>G (p.Leu199=)
2g.39022766A>GCA425866591SOS1n.1542T>C
c.429T>C (p.Leu143=)
n.1883T>C
n.1669T>C
c.1551T>C (p.Leu517=)
c.1662T>C (p.Leu554=)
c.1755T>C (p.Leu585=)
c.1641T>C (p.Leu547=)
c.1638T>C (p.Leu546=)
c.1491T>C (p.Leu497=)
c.597T>C (p.Leu199=)
2g.39022766A>TCA425866592SOS1n.1542T>A
c.429T>A (p.Leu143=)
n.1883T>A
n.1669T>A
c.1551T>A (p.Leu517=)
c.1662T>A (p.Leu554=)
c.1755T>A (p.Leu585=)
c.1641T>A (p.Leu547=)
c.1638T>A (p.Leu546=)
c.1491T>A (p.Leu497=)
c.597T>A (p.Leu199=)
2g.39022767A>CCA346365670SOS1n.1541T>G
c.428T>G (p.Leu143Arg)
n.1882T>G
n.1668T>G
c.1550T>G (p.Leu517Arg)
c.1661T>G (p.Leu554Arg)
c.1754T>G (p.Leu585Arg)
c.1640T>G (p.Leu547Arg)
c.1637T>G (p.Leu546Arg)
c.1490T>G (p.Leu497Arg)
c.596T>G (p.Leu199Arg)
gnomAD v4
2g.39022767A>GCA346365671SOS1n.1541T>C
c.428T>C (p.Leu143Pro)
n.1882T>C
n.1668T>C
c.1550T>C (p.Leu517Pro)
c.1661T>C (p.Leu554Pro)
c.1754T>C (p.Leu585Pro)
c.1640T>C (p.Leu547Pro)
c.1637T>C (p.Leu546Pro)
c.1490T>C (p.Leu497Pro)
c.596T>C (p.Leu199Pro)
2g.39022767A>TCA346365672SOS1n.1541T>A
c.428T>A (p.Leu143His)
n.1882T>A
n.1668T>A
c.1550T>A (p.Leu517His)
c.1661T>A (p.Leu554His)
c.1754T>A (p.Leu585His)
c.1640T>A (p.Leu547His)
c.1637T>A (p.Leu546His)
c.1490T>A (p.Leu497His)
c.596T>A (p.Leu199His)
2g.39022768G>ACA1624569SOS1n.1540C>T
c.427C>T (p.Leu143Phe)
n.1881C>T
n.1667C>T
c.1549C>T (p.Leu517Phe)
c.1660C>T (p.Leu554Phe)
c.1753C>T (p.Leu585Phe)
c.1639C>T (p.Leu547Phe)
c.1636C>T (p.Leu546Phe)
c.1489C>T (p.Leu497Phe)
c.595C>T (p.Leu199Phe)
dbSNP ExAC gnomAD v2
2g.39022768G>CCA346365674SOS1n.1540C>G
c.427C>G (p.Leu143Val)
n.1881C>G
n.1667C>G
c.1549C>G (p.Leu517Val)
c.1660C>G (p.Leu554Val)
c.1753C>G (p.Leu585Val)
c.1639C>G (p.Leu547Val)
c.1636C>G (p.Leu546Val)
c.1489C>G (p.Leu497Val)
c.595C>G (p.Leu199Val)
2g.39022768G=CA1246139440SOS1n.1540C=
c.427C= (p.Leu143=)
n.1881C=
n.1667C=
c.1549C= (p.Leu517=)
c.1660C= (p.Leu554=)
c.1753C= (p.Leu585=)
c.1639C= (p.Leu547=)
c.1636C= (p.Leu546=)
c.1489C= (p.Leu497=)
c.595C= (p.Leu199=)
2g.39022768G>TCA346365673SOS1n.1540C>A
c.427C>A (p.Leu143Ile)
n.1881C>A
n.1667C>A
c.1549C>A (p.Leu517Ile)
c.1660C>A (p.Leu554Ile)
c.1753C>A (p.Leu585Ile)
c.1639C>A (p.Leu547Ile)
c.1636C>A (p.Leu546Ile)
c.1489C>A (p.Leu497Ile)
c.595C>A (p.Leu199Ile)
ClinVar dbSNP
2g.39022769C>ACA346365675SOS1n.1539G>T
c.426G>T (p.Met142Ile)
n.1880G>T
n.1666G>T
c.1548G>T (p.Met516Ile)
c.1659G>T (p.Met553Ile)
c.1752G>T (p.Met584Ile)
c.1638G>T (p.Met546Ile)
c.1635G>T (p.Met545Ile)
c.1488G>T (p.Met496Ile)
c.594G>T (p.Met198Ile)
2g.39022769C=CA1246139444SOS1n.1539G=
c.426G= (p.Met142=)
n.1880G=
n.1666G=
c.1548G= (p.Met516=)
c.1659G= (p.Met553=)
c.1752G= (p.Met584=)
c.1638G= (p.Met546=)
c.1635G= (p.Met545=)
c.1488G= (p.Met496=)
c.594G= (p.Met198=)
2g.39022769C>GCA346365676SOS1n.1539G>C
c.426G>C (p.Met142Ile)
n.1880G>C
n.1666G>C
c.1548G>C (p.Met516Ile)
c.1659G>C (p.Met553Ile)
c.1752G>C (p.Met584Ile)
c.1638G>C (p.Met546Ile)
c.1635G>C (p.Met545Ile)
c.1488G>C (p.Met496Ile)
c.594G>C (p.Met198Ile)
gnomAD v4
2g.39022769C>TCA10613342SOS1n.1539G>A
c.426G>A (p.Met142Ile)
n.1880G>A
n.1666G>A
c.1548G>A (p.Met516Ile)
c.1659G>A (p.Met553Ile)
c.1752G>A (p.Met584Ile)
c.1638G>A (p.Met546Ile)
c.1635G>A (p.Met545Ile)
c.1488G>A (p.Met496Ile)
c.594G>A (p.Met198Ile)
ClinVar dbSNP
2g.39022770A=CA1246139449SOS1n.1538T=
c.425T= (p.Met142=)
n.1879T=
n.1665T=
c.1547T= (p.Met516=)
c.1658T= (p.Met553=)
c.1751T= (p.Met584=)
c.1637T= (p.Met546=)
c.1634T= (p.Met545=)
c.1487T= (p.Met496=)
c.593T= (p.Met198=)
2g.39022770A>CCA346365677SOS1n.1538T>G
c.425T>G (p.Met142Arg)
n.1879T>G
n.1665T>G
c.1547T>G (p.Met516Arg)
c.1658T>G (p.Met553Arg)
c.1751T>G (p.Met584Arg)
c.1637T>G (p.Met546Arg)
c.1634T>G (p.Met545Arg)
c.1487T>G (p.Met496Arg)
c.593T>G (p.Met198Arg)
2g.39022770A>GCA346365678SOS1n.1538T>C
c.425T>C (p.Met142Thr)
n.1879T>C
n.1665T>C
c.1547T>C (p.Met516Thr)
c.1658T>C (p.Met553Thr)
c.1751T>C (p.Met584Thr)
c.1637T>C (p.Met546Thr)
c.1634T>C (p.Met545Thr)
c.1487T>C (p.Met496Thr)
c.593T>C (p.Met198Thr)
ClinVar dbSNP gnomAD v4
2g.39022770A>TCA346365679SOS1n.1538T>A
c.425T>A (p.Met142Lys)
n.1879T>A
n.1665T>A
c.1547T>A (p.Met516Lys)
c.1658T>A (p.Met553Lys)
c.1751T>A (p.Met584Lys)
c.1637T>A (p.Met546Lys)
c.1634T>A (p.Met545Lys)
c.1487T>A (p.Met496Lys)
c.593T>A (p.Met198Lys)
2g.39022771T>ACA346365680SOS1n.1537A>T
c.424A>T (p.Met142Leu)
n.1878A>T
n.1664A>T
c.1546A>T (p.Met516Leu)
c.1657A>T (p.Met553Leu)
c.1750A>T (p.Met584Leu)
c.1636A>T (p.Met546Leu)
c.1633A>T (p.Met545Leu)
c.1486A>T (p.Met496Leu)
c.592A>T (p.Met198Leu)
2g.39022771T>CCA346365681SOS1n.1537A>G
c.424A>G (p.Met142Val)
n.1878A>G
n.1664A>G
c.1546A>G (p.Met516Val)
c.1657A>G (p.Met553Val)
c.1750A>G (p.Met584Val)
c.1636A>G (p.Met546Val)
c.1633A>G (p.Met545Val)
c.1486A>G (p.Met496Val)
c.592A>G (p.Met198Val)
2g.39022771T>GCA346365682SOS1n.1537A>C
c.424A>C (p.Met142Leu)
n.1878A>C
n.1664A>C
c.1546A>C (p.Met516Leu)
c.1657A>C (p.Met553Leu)
c.1750A>C (p.Met584Leu)
c.1636A>C (p.Met546Leu)
c.1633A>C (p.Met545Leu)
c.1486A>C (p.Met496Leu)
c.592A>C (p.Met198Leu)
2g.39022772C>ACA261730SOS1n.1536G>T
c.423G>T (p.Arg141Ser)
n.1877G>T
n.1663G>T
c.1545G>T (p.Arg515Ser)
c.1656G>T (p.Arg552Ser)
c.1749G>T (p.Arg583Ser)
c.1635G>T (p.Arg545Ser)
c.1632G>T (p.Arg544Ser)
c.1485G>T (p.Arg495Ser)
c.591G>T (p.Arg197Ser)
ClinVar dbSNP gnomAD v4
2g.39022772C=CA1246139455SOS1n.1536G=
c.423G= (p.Arg141=)
n.1877G=
n.1663G=
c.1545G= (p.Arg515=)
c.1656G= (p.Arg552=)
c.1749G= (p.Arg583=)
c.1635G= (p.Arg545=)
c.1632G= (p.Arg544=)
c.1485G= (p.Arg495=)
c.591G= (p.Arg197=)
2g.39022772C>GCA256580SOS1n.1536G>C
c.423G>C (p.Arg141Ser)
n.1877G>C
n.1663G>C
c.1545G>C (p.Arg515Ser)
c.1656G>C (p.Arg552Ser)
c.1749G>C (p.Arg583Ser)
c.1635G>C (p.Arg545Ser)
c.1632G>C (p.Arg544Ser)
c.1485G>C (p.Arg495Ser)
c.591G>C (p.Arg197Ser)
ClinVar dbSNP gnomAD v4 COSMIC
2g.39022772C>TCA425866597SOS1n.1536G>A
c.423G>A (p.Arg141=)
n.1877G>A
n.1663G>A
c.1545G>A (p.Arg515=)
c.1656G>A (p.Arg552=)
c.1749G>A (p.Arg583=)
c.1635G>A (p.Arg545=)
c.1632G>A (p.Arg544=)
c.1485G>A (p.Arg495=)
c.591G>A (p.Arg197=)
gnomAD v4
2g.39022772_39022775delinsCCTTCA1246139460SOS1n.1533_1536delinsAAGG
c.420_423delinsAAGG (p.Glu140=)
n.1874_1877delinsAAGG
n.1660_1663delinsAAGG
c.1542_1545delinsAAGG (p.Glu514=)
c.1653_1656delinsAAGG (p.Glu551=)
c.1746_1749delinsAAGG (p.Glu582=)
c.1632_1635delinsAAGG (p.Glu544=)
c.1629_1632delinsAAGG (p.Glu543=)
c.1482_1485delinsAAGG (p.Glu494=)
c.588_591delinsAAGG (p.Glu196=)
2g.39022773C>ACA16616762SOS1n.1535G>T
c.422G>T (p.Arg141Met)
n.1876G>T
n.1662G>T
c.1544G>T (p.Arg515Met)
c.1655G>T (p.Arg552Met)
c.1748G>T (p.Arg583Met)
c.1634G>T (p.Arg545Met)
c.1631G>T (p.Arg544Met)
c.1484G>T (p.Arg495Met)
c.590G>T (p.Arg197Met)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.39022773C=CA1246139470SOS1n.1535G=
c.422G= (p.Arg141=)
n.1876G=
n.1662G=
c.1544G= (p.Arg515=)
c.1655G= (p.Arg552=)
c.1748G= (p.Arg583=)
c.1634G= (p.Arg545=)
c.1631G= (p.Arg544=)
c.1484G= (p.Arg495=)
c.590G= (p.Arg197=)
2g.39022773C>GCA261728SOS1n.1535G>C
c.422G>C (p.Arg141Thr)
n.1876G>C
n.1662G>C
c.1544G>C (p.Arg515Thr)
c.1655G>C (p.Arg552Thr)
c.1748G>C (p.Arg583Thr)
c.1634G>C (p.Arg545Thr)
c.1631G>C (p.Arg544Thr)
c.1484G>C (p.Arg495Thr)
c.590G>C (p.Arg197Thr)
ClinVar dbSNP
2g.39022773C>TCA261726SOS1n.1535G>A
c.422G>A (p.Arg141Lys)
n.1876G>A
n.1662G>A
c.1544G>A (p.Arg515Lys)
c.1655G>A (p.Arg552Lys)
c.1748G>A (p.Arg583Lys)
c.1634G>A (p.Arg545Lys)
c.1631G>A (p.Arg544Lys)
c.1484G>A (p.Arg495Lys)
c.590G>A (p.Arg197Lys)
ClinVar dbSNP gnomAD v4 COSMIC
2g.39022773_39022775delCA915943755SOS1n.1533_1535del
c.420_422del (p.Arg141del)
n.1874_1876del
n.1660_1662del
c.1542_1544del (p.Arg515del)
c.1653_1655del (p.Arg552del)
c.1746_1748del (p.Arg583del)
c.1632_1634del (p.Arg545del)
c.1629_1631del (p.Arg544del)
c.1482_1484del (p.Arg495del)
c.588_590del (p.Arg197del)
ClinVar dbSNP
2g.39022774T>ACA16042455SOS1n.1534A>T
c.421A>T (p.Arg141Trp)
n.1875A>T
n.1661A>T
c.1543A>T (p.Arg515Trp)
c.1654A>T (p.Arg552Trp)
c.1747A>T (p.Arg583Trp)
c.1633A>T (p.Arg545Trp)
c.1630A>T (p.Arg544Trp)
c.1483A>T (p.Arg495Trp)
c.589A>T (p.Arg197Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022774T>CCA235350SOS1n.1534A>G
c.421A>G (p.Arg141Gly)
n.1875A>G
n.1661A>G
c.1543A>G (p.Arg515Gly)
c.1654A>G (p.Arg552Gly)
c.1747A>G (p.Arg583Gly)
c.1633A>G (p.Arg545Gly)
c.1630A>G (p.Arg544Gly)
c.1483A>G (p.Arg495Gly)
c.589A>G (p.Arg197Gly)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39022774T>GCA425866598SOS1n.1534A>C
c.421A>C (p.Arg141=)
n.1875A>C
n.1661A>C
c.1543A>C (p.Arg515=)
c.1654A>C (p.Arg552=)
c.1747A>C (p.Arg583=)
c.1633A>C (p.Arg545=)
c.1630A>C (p.Arg544=)
c.1483A>C (p.Arg495=)
c.589A>C (p.Arg197=)
2g.39022774T=CA1246139482SOS1n.1534A=
c.421A= (p.Arg141=)
n.1875A=
n.1661A=
c.1543A= (p.Arg515=)
c.1654A= (p.Arg552=)
c.1747A= (p.Arg583=)
c.1633A= (p.Arg545=)
c.1630A= (p.Arg544=)
c.1483A= (p.Arg495=)
c.589A= (p.Arg197=)
2g.39022775T>ACA346365683SOS1n.1533A>T
c.420A>T (p.Glu140Asp)
n.1874A>T
n.1660A>T
c.1542A>T (p.Glu514Asp)
c.1653A>T (p.Glu551Asp)
c.1746A>T (p.Glu582Asp)
c.1632A>T (p.Glu544Asp)
c.1629A>T (p.Glu543Asp)
c.1482A>T (p.Glu494Asp)
c.588A>T (p.Glu196Asp)
2g.39022775T>CCA425866599SOS1n.1533A>G
c.420A>G (p.Glu140=)
n.1874A>G
n.1660A>G
c.1542A>G (p.Glu514=)
c.1653A>G (p.Glu551=)
c.1746A>G (p.Glu582=)
c.1632A>G (p.Glu544=)
c.1629A>G (p.Glu543=)
c.1482A>G (p.Glu494=)
c.588A>G (p.Glu196=)
2g.39022775T>GCA346365684SOS1n.1533A>C
c.420A>C (p.Glu140Asp)
n.1874A>C
n.1660A>C
c.1542A>C (p.Glu514Asp)
c.1653A>C (p.Glu551Asp)
c.1746A>C (p.Glu582Asp)
c.1632A>C (p.Glu544Asp)
c.1629A>C (p.Glu543Asp)
c.1482A>C (p.Glu494Asp)
c.588A>C (p.Glu196Asp)
2g.39022776T>ACA346365685SOS1n.1532A>T
c.419A>T (p.Glu140Val)
n.1873A>T
n.1659A>T
c.1541A>T (p.Glu514Val)
c.1652A>T (p.Glu551Val)
c.1745A>T (p.Glu582Val)
c.1631A>T (p.Glu544Val)
c.1628A>T (p.Glu543Val)
c.1481A>T (p.Glu494Val)
c.587A>T (p.Glu196Val)
2g.39022776T>CCA346365686SOS1n.1532A>G
c.419A>G (p.Glu140Gly)
n.1873A>G
n.1659A>G
c.1541A>G (p.Glu514Gly)
c.1652A>G (p.Glu551Gly)
c.1745A>G (p.Glu582Gly)
c.1631A>G (p.Glu544Gly)
c.1628A>G (p.Glu543Gly)
c.1481A>G (p.Glu494Gly)
c.587A>G (p.Glu196Gly)
ClinVar dbSNP
2g.39022776T>GCA346365687SOS1n.1532A>C
c.419A>C (p.Glu140Ala)
n.1873A>C
n.1659A>C
c.1541A>C (p.Glu514Ala)
c.1652A>C (p.Glu551Ala)
c.1745A>C (p.Glu582Ala)
c.1631A>C (p.Glu544Ala)
c.1628A>C (p.Glu543Ala)
c.1481A>C (p.Glu494Ala)
c.587A>C (p.Glu196Ala)
2g.39022777C>ACA346365688SOS1n.1531G>T
c.418G>T (p.Glu140Ter)
n.1872G>T
n.1658G>T
c.1540G>T (p.Glu514Ter)
c.1651G>T (p.Glu551Ter)
c.1744G>T (p.Glu582Ter)
c.1630G>T (p.Glu544Ter)
c.1627G>T (p.Glu543Ter)
c.1480G>T (p.Glu494Ter)
c.586G>T (p.Glu196Ter)
2g.39022777C>GCA346365689SOS1n.1531G>C
c.418G>C (p.Glu140Gln)
n.1872G>C
n.1658G>C
c.1540G>C (p.Glu514Gln)
c.1651G>C (p.Glu551Gln)
c.1744G>C (p.Glu582Gln)
c.1630G>C (p.Glu544Gln)
c.1627G>C (p.Glu543Gln)
c.1480G>C (p.Glu494Gln)
c.586G>C (p.Glu196Gln)
gnomAD v4
2g.39022777C>TCA346365690SOS1n.1531G>A
c.418G>A (p.Glu140Lys)
n.1872G>A
n.1658G>A
c.1540G>A (p.Glu514Lys)
c.1651G>A (p.Glu551Lys)
c.1744G>A (p.Glu582Lys)
c.1630G>A (p.Glu544Lys)
c.1627G>A (p.Glu543Lys)
c.1480G>A (p.Glu494Lys)
c.586G>A (p.Glu196Lys)
gnomAD v4
2g.39022777_39022780delinsCCAGCA1246139487SOS1n.1528_1531delinsCTGG
c.415_418delinsCTGG (p.Leu139=)
n.1869_1872delinsCTGG
n.1655_1658delinsCTGG
c.1537_1540delinsCTGG (p.Leu513=)
c.1648_1651delinsCTGG (p.Leu550=)
c.1741_1744delinsCTGG (p.Leu581=)
c.1627_1630delinsCTGG (p.Leu543=)
c.1624_1627delinsCTGG (p.Leu542=)
c.1477_1480delinsCTGG (p.Leu493=)
c.583_586delinsCTGG (p.Leu195=)
2g.39022778C>ACA425866601SOS1n.1530G>T
c.417G>T (p.Leu139=)
n.1871G>T
n.1657G>T
c.1539G>T (p.Leu513=)
c.1650G>T (p.Leu550=)
c.1743G>T (p.Leu581=)
c.1629G>T (p.Leu543=)
c.1626G>T (p.Leu542=)
c.1479G>T (p.Leu493=)
c.585G>T (p.Leu195=)
2g.39022778C>GCA425866603SOS1n.1530G>C
c.417G>C (p.Leu139=)
n.1871G>C
n.1657G>C
c.1539G>C (p.Leu513=)
c.1650G>C (p.Leu550=)
c.1743G>C (p.Leu581=)
c.1629G>C (p.Leu543=)
c.1626G>C (p.Leu542=)
c.1479G>C (p.Leu493=)
c.585G>C (p.Leu195=)
2g.39022778C>TCA425866604SOS1n.1530G>A
c.417G>A (p.Leu139=)
n.1871G>A
n.1657G>A
c.1539G>A (p.Leu513=)
c.1650G>A (p.Leu550=)
c.1743G>A (p.Leu581=)
c.1629G>A (p.Leu543=)
c.1626G>A (p.Leu542=)
c.1479G>A (p.Leu493=)
c.585G>A (p.Leu195=)
gnomAD v4
2g.39022778_39022780delCA916082172SOS1n.1528_1530del
c.415_417del (p.Leu139del)
n.1869_1871del
n.1655_1657del
c.1537_1539del (p.Leu513del)
c.1648_1650del (p.Leu550del)
c.1741_1743del (p.Leu581del)
c.1627_1629del (p.Leu543del)
c.1624_1626del (p.Leu542del)
c.1477_1479del (p.Leu493del)
c.583_585del (p.Leu195del)
ClinVar dbSNP
2g.39022779A=CA1246139498SOS1n.1529T=
c.416T= (p.Leu139=)
n.1870T=
n.1656T=
c.1538T= (p.Leu513=)
c.1649T= (p.Leu550=)
c.1742T= (p.Leu581=)
c.1628T= (p.Leu543=)
c.1625T= (p.Leu542=)
c.1478T= (p.Leu493=)
c.584T= (p.Leu195=)
2g.39022779A>CCA346365691SOS1n.1529T>G
c.416T>G (p.Leu139Arg)
n.1870T>G
n.1656T>G
c.1538T>G (p.Leu513Arg)
c.1649T>G (p.Leu550Arg)
c.1742T>G (p.Leu581Arg)
c.1628T>G (p.Leu543Arg)
c.1625T>G (p.Leu542Arg)
c.1478T>G (p.Leu493Arg)
c.584T>G (p.Leu195Arg)
dbSNP gnomAD v2 gnomAD v4
2g.39022779A>GCA261724SOS1n.1529T>C
c.416T>C (p.Leu139Pro)
n.1870T>C
n.1656T>C
c.1538T>C (p.Leu513Pro)
c.1649T>C (p.Leu550Pro)
c.1742T>C (p.Leu581Pro)
c.1628T>C (p.Leu543Pro)
c.1625T>C (p.Leu542Pro)
c.1478T>C (p.Leu493Pro)
c.584T>C (p.Leu195Pro)
ClinVar dbSNP gnomAD v4
2g.39022779A>TCA346365692SOS1n.1529T>A
c.416T>A (p.Leu139Gln)
n.1870T>A
n.1656T>A
c.1538T>A (p.Leu513Gln)
c.1649T>A (p.Leu550Gln)
c.1742T>A (p.Leu581Gln)
c.1628T>A (p.Leu543Gln)
c.1625T>A (p.Leu542Gln)
c.1478T>A (p.Leu493Gln)
c.584T>A (p.Leu195Gln)
2g.39022780G>ACA425866606SOS1n.1528C>T
c.415C>T (p.Leu139=)
n.1869C>T
n.1655C>T
c.1537C>T (p.Leu513=)
c.1648C>T (p.Leu550=)
c.1741C>T (p.Leu581=)
c.1627C>T (p.Leu543=)
c.1624C>T (p.Leu542=)
c.1477C>T (p.Leu493=)
c.583C>T (p.Leu195=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.39022780G>CCA346365693SOS1n.1528C>G
c.415C>G (p.Leu139Val)
n.1869C>G
n.1655C>G
c.1537C>G (p.Leu513Val)
c.1648C>G (p.Leu550Val)
c.1741C>G (p.Leu581Val)
c.1627C>G (p.Leu543Val)
c.1624C>G (p.Leu542Val)
c.1477C>G (p.Leu493Val)
c.583C>G (p.Leu195Val)
2g.39022780G=CA1246139506SOS1n.1528C=
c.415C= (p.Leu139=)
n.1869C=
n.1655C=
c.1537C= (p.Leu513=)
c.1648C= (p.Leu550=)
c.1741C= (p.Leu581=)
c.1627C= (p.Leu543=)
c.1624C= (p.Leu542=)
c.1477C= (p.Leu493=)
c.583C= (p.Leu195=)
2g.39022780G>TCA346365694SOS1n.1528C>A
c.415C>A (p.Leu139Met)
n.1869C>A
n.1655C>A
c.1537C>A (p.Leu513Met)
c.1648C>A (p.Leu550Met)
c.1741C>A (p.Leu581Met)
c.1627C>A (p.Leu543Met)
c.1624C>A (p.Leu542Met)
c.1477C>A (p.Leu493Met)
c.583C>A (p.Leu195Met)
2g.39022781T>ACA425866607SOS1n.1527A>T
c.414A>T (p.Thr138=)
n.1868A>T
n.1654A>T
c.1536A>T (p.Thr512=)
c.1647A>T (p.Thr549=)
c.1740A>T (p.Thr580=)
c.1626A>T (p.Thr542=)
c.1623A>T (p.Thr541=)
c.1476A>T (p.Thr492=)
c.582A>T (p.Thr194=)
2g.39022781T>CCA293658SOS1n.1527A>G
c.414A>G (p.Thr138=)
n.1868A>G
n.1654A>G
c.1536A>G (p.Thr512=)
c.1647A>G (p.Thr549=)
c.1740A>G (p.Thr580=)
c.1626A>G (p.Thr542=)
c.1623A>G (p.Thr541=)
c.1476A>G (p.Thr492=)
c.582A>G (p.Thr194=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022781T>GCA425866609SOS1n.1527A>C
c.414A>C (p.Thr138=)
n.1868A>C
n.1654A>C
c.1536A>C (p.Thr512=)
c.1647A>C (p.Thr549=)
c.1740A>C (p.Thr580=)
c.1626A>C (p.Thr542=)
c.1623A>C (p.Thr541=)
c.1476A>C (p.Thr492=)
c.582A>C (p.Thr194=)
2g.39022781T=CA1246139514SOS1n.1527A=
c.414A= (p.Thr138=)
n.1868A=
n.1654A=
c.1536A= (p.Thr512=)
c.1647A= (p.Thr549=)
c.1740A= (p.Thr580=)
c.1626A= (p.Thr542=)
c.1623A= (p.Thr541=)
c.1476A= (p.Thr492=)
c.582A= (p.Thr194=)
2g.39022782G>ACA346365695SOS1n.1526C>T
c.413C>T (p.Thr138Ile)
n.1867C>T
n.1653C>T
c.1535C>T (p.Thr512Ile)
c.1646C>T (p.Thr549Ile)
c.1739C>T (p.Thr580Ile)
c.1625C>T (p.Thr542Ile)
c.1622C>T (p.Thr541Ile)
c.1475C>T (p.Thr492Ile)
c.581C>T (p.Thr194Ile)
dbSNP
2g.39022782G>CCA346365696SOS1n.1526C>G
c.413C>G (p.Thr138Arg)
n.1867C>G
n.1653C>G
c.1535C>G (p.Thr512Arg)
c.1646C>G (p.Thr549Arg)
c.1739C>G (p.Thr580Arg)
c.1625C>G (p.Thr542Arg)
c.1622C>G (p.Thr541Arg)
c.1475C>G (p.Thr492Arg)
c.581C>G (p.Thr194Arg)
2g.39022782G=CA1246139517SOS1n.1526C=
c.413C= (p.Thr138=)
n.1867C=
n.1653C=
c.1535C= (p.Thr512=)
c.1646C= (p.Thr549=)
c.1739C= (p.Thr580=)
c.1625C= (p.Thr542=)
c.1622C= (p.Thr541=)
c.1475C= (p.Thr492=)
c.581C= (p.Thr194=)
2g.39022782G>TCA297273SOS1n.1526C>A
c.413C>A (p.Thr138Lys)
n.1867C>A
n.1653C>A
c.1535C>A (p.Thr512Lys)
c.1646C>A (p.Thr549Lys)
c.1739C>A (p.Thr580Lys)
c.1625C>A (p.Thr542Lys)
c.1622C>A (p.Thr541Lys)
c.1475C>A (p.Thr492Lys)
c.581C>A (p.Thr194Lys)
ClinVar dbSNP
2g.39022783T>ACA346365697SOS1n.1525A>T
c.412A>T (p.Thr138Ser)
n.1866A>T
n.1652A>T
c.1534A>T (p.Thr512Ser)
c.1645A>T (p.Thr549Ser)
c.1738A>T (p.Thr580Ser)
c.1624A>T (p.Thr542Ser)
c.1621A>T (p.Thr541Ser)
c.1474A>T (p.Thr492Ser)
c.580A>T (p.Thr194Ser)
2g.39022783T>CCA346365698SOS1n.1525A>G
c.412A>G (p.Thr138Ala)
n.1866A>G
n.1652A>G
c.1534A>G (p.Thr512Ala)
c.1645A>G (p.Thr549Ala)
c.1738A>G (p.Thr580Ala)
c.1624A>G (p.Thr542Ala)
c.1621A>G (p.Thr541Ala)
c.1474A>G (p.Thr492Ala)
c.580A>G (p.Thr194Ala)
ClinVar dbSNP gnomAD v4
2g.39022783T>GCA346365699SOS1n.1525A>C
c.412A>C (p.Thr138Pro)
n.1866A>C
n.1652A>C
c.1534A>C (p.Thr512Pro)
c.1645A>C (p.Thr549Pro)
c.1738A>C (p.Thr580Pro)
c.1624A>C (p.Thr542Pro)
c.1621A>C (p.Thr541Pro)
c.1474A>C (p.Thr492Pro)
c.580A>C (p.Thr194Pro)
2g.39022783T=CA1246139526SOS1n.1525A=
c.412A= (p.Thr138=)
n.1866A=
n.1652A=
c.1534A= (p.Thr512=)
c.1645A= (p.Thr549=)
c.1738A= (p.Thr580=)
c.1624A= (p.Thr542=)
c.1621A= (p.Thr541=)
c.1474A= (p.Thr492=)
c.580A= (p.Thr194=)
2g.39022784A=CA1246139530SOS1n.1524T=
c.411T= (p.Ser137=)
n.1865T=
n.1651T=
c.1533T= (p.Ser511=)
c.1644T= (p.Ser548=)
c.1737T= (p.Ser579=)
c.1623T= (p.Ser541=)
c.1620T= (p.Ser540=)
c.1473T= (p.Ser491=)
c.579T= (p.Ser193=)
2g.39022784A>CCA346365700SOS1n.1524T>G
c.411T>G (p.Ser137Arg)
n.1865T>G
n.1651T>G
c.1533T>G (p.Ser511Arg)
c.1644T>G (p.Ser548Arg)
c.1737T>G (p.Ser579Arg)
c.1623T>G (p.Ser541Arg)
c.1620T>G (p.Ser540Arg)
c.1473T>G (p.Ser491Arg)
c.579T>G (p.Ser193Arg)
2g.39022784A>GCA425866612SOS1n.1524T>C
c.411T>C (p.Ser137=)
n.1865T>C
n.1651T>C
c.1533T>C (p.Ser511=)
c.1644T>C (p.Ser548=)
c.1737T>C (p.Ser579=)
c.1623T>C (p.Ser541=)
c.1620T>C (p.Ser540=)
c.1473T>C (p.Ser491=)
c.579T>C (p.Ser193=)
2g.39022784A>TCA297272SOS1n.1524T>A
c.411T>A (p.Ser137Arg)
n.1865T>A
n.1651T>A
c.1533T>A (p.Ser511Arg)
c.1644T>A (p.Ser548Arg)
c.1737T>A (p.Ser579Arg)
c.1623T>A (p.Ser541Arg)
c.1620T>A (p.Ser540Arg)
c.1473T>A (p.Ser491Arg)
c.579T>A (p.Ser193Arg)
ClinVar dbSNP
2g.39022785C>ACA346365701SOS1n.1523G>T
c.410G>T (p.Ser137Ile)
n.1864G>T
n.1650G>T
c.1532G>T (p.Ser511Ile)
c.1643G>T (p.Ser548Ile)
c.1736G>T (p.Ser579Ile)
c.1622G>T (p.Ser541Ile)
c.1619G>T (p.Ser540Ile)
c.1472G>T (p.Ser491Ile)
c.578G>T (p.Ser193Ile)
2g.39022785C>GCA346365702SOS1n.1523G>C
c.410G>C (p.Ser137Thr)
n.1864G>C
n.1650G>C
c.1532G>C (p.Ser511Thr)
c.1643G>C (p.Ser548Thr)
c.1736G>C (p.Ser579Thr)
c.1622G>C (p.Ser541Thr)
c.1619G>C (p.Ser540Thr)
c.1472G>C (p.Ser491Thr)
c.578G>C (p.Ser193Thr)
2g.39022785C>TCA346365703SOS1n.1523G>A
c.410G>A (p.Ser137Asn)
n.1864G>A
n.1650G>A
c.1532G>A (p.Ser511Asn)
c.1643G>A (p.Ser548Asn)
c.1736G>A (p.Ser579Asn)
c.1622G>A (p.Ser541Asn)
c.1619G>A (p.Ser540Asn)
c.1472G>A (p.Ser491Asn)
c.578G>A (p.Ser193Asn)
COSMIC
2g.39022786T>ACA346365704SOS1n.1522A>T
c.409A>T (p.Ser137Cys)
n.1863A>T
n.1649A>T
c.1531A>T (p.Ser511Cys)
c.1642A>T (p.Ser548Cys)
c.1735A>T (p.Ser579Cys)
c.1621A>T (p.Ser541Cys)
c.1618A>T (p.Ser540Cys)
c.1471A>T (p.Ser491Cys)
c.577A>T (p.Ser193Cys)
2g.39022786T>CCA346365705SOS1n.1522A>G
c.409A>G (p.Ser137Gly)
n.1863A>G
n.1649A>G
c.1531A>G (p.Ser511Gly)
c.1642A>G (p.Ser548Gly)
c.1735A>G (p.Ser579Gly)
c.1621A>G (p.Ser541Gly)
c.1618A>G (p.Ser540Gly)
c.1471A>G (p.Ser491Gly)
c.577A>G (p.Ser193Gly)
COSMIC
2g.39022786T>GCA234977SOS1n.1522A>C
c.409A>C (p.Ser137Arg)
n.1863A>C
n.1649A>C
c.1531A>C (p.Ser511Arg)
c.1642A>C (p.Ser548Arg)
c.1735A>C (p.Ser579Arg)
c.1621A>C (p.Ser541Arg)
c.1618A>C (p.Ser540Arg)
c.1471A>C (p.Ser491Arg)
c.577A>C (p.Ser193Arg)
ClinVar dbSNP gnomAD v4
2g.39022786T=CA1246139535SOS1n.1522A=
c.409A= (p.Ser137=)
n.1863A=
n.1649A=
c.1531A= (p.Ser511=)
c.1642A= (p.Ser548=)
c.1735A= (p.Ser579=)
c.1621A= (p.Ser541=)
c.1618A= (p.Ser540=)
c.1471A= (p.Ser491=)
c.577A= (p.Ser193=)
2g.39022787C>ACA425866616SOS1n.1521G>T
c.408G>T (p.Arg136=)
n.1862G>T
n.1648G>T
c.1530G>T (p.Arg510=)
c.1641G>T (p.Arg547=)
c.1734G>T (p.Arg578=)
c.1620G>T (p.Arg540=)
c.1617G>T (p.Arg539=)
c.1470G>T (p.Arg490=)
c.576G>T (p.Arg192=)
2g.39022787C>GCA425866617SOS1n.1521G>C
c.408G>C (p.Arg136=)
n.1862G>C
n.1648G>C
c.1530G>C (p.Arg510=)
c.1641G>C (p.Arg547=)
c.1734G>C (p.Arg578=)
c.1620G>C (p.Arg540=)
c.1617G>C (p.Arg539=)
c.1470G>C (p.Arg490=)
c.576G>C (p.Arg192=)
2g.39022787C>TCA425866618SOS1n.1521G>A
c.408G>A (p.Arg136=)
n.1862G>A
n.1648G>A
c.1530G>A (p.Arg510=)
c.1641G>A (p.Arg547=)
c.1734G>A (p.Arg578=)
c.1620G>A (p.Arg540=)
c.1617G>A (p.Arg539=)
c.1470G>A (p.Arg490=)
c.576G>A (p.Arg192=)
2g.39022788C>ACA346365707SOS1n.1520G>T
c.407G>T (p.Arg136Leu)
n.1861G>T
n.1647G>T
c.1529G>T (p.Arg510Leu)
c.1640G>T (p.Arg547Leu)
c.1733G>T (p.Arg578Leu)
c.1619G>T (p.Arg540Leu)
c.1616G>T (p.Arg539Leu)
c.1469G>T (p.Arg490Leu)
c.575G>T (p.Arg192Leu)
2g.39022788C=CA1246139542SOS1n.1520G=
c.407G= (p.Arg136=)
n.1861G=
n.1647G=
c.1529G= (p.Arg510=)
c.1640G= (p.Arg547=)
c.1733G= (p.Arg578=)
c.1619G= (p.Arg540=)
c.1616G= (p.Arg539=)
c.1469G= (p.Arg490=)
c.575G= (p.Arg192=)
2g.39022788C>GCA346365706SOS1n.1520G>C
c.407G>C (p.Arg136Pro)
n.1861G>C
n.1647G>C
c.1529G>C (p.Arg510Pro)
c.1640G>C (p.Arg547Pro)
c.1733G>C (p.Arg578Pro)
c.1619G>C (p.Arg540Pro)
c.1616G>C (p.Arg539Pro)
c.1469G>C (p.Arg490Pro)
c.575G>C (p.Arg192Pro)
2g.39022788C>TCA1624570SOS1n.1520G>A
c.407G>A (p.Arg136Gln)
n.1861G>A
n.1647G>A
c.1529G>A (p.Arg510Gln)
c.1640G>A (p.Arg547Gln)
c.1733G>A (p.Arg578Gln)
c.1619G>A (p.Arg540Gln)
c.1616G>A (p.Arg539Gln)
c.1469G>A (p.Arg490Gln)
c.575G>A (p.Arg192Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022789G>ACA346365708SOS1n.1519C>T
c.406C>T (p.Arg136Trp)
n.1860C>T
n.1646C>T
c.1528C>T (p.Arg510Trp)
c.1639C>T (p.Arg547Trp)
c.1732C>T (p.Arg578Trp)
c.1618C>T (p.Arg540Trp)
c.1615C>T (p.Arg539Trp)
c.1468C>T (p.Arg490Trp)
c.574C>T (p.Arg192Trp)
gnomAD v4 COSMIC
2g.39022789G>CCA346365709SOS1n.1519C>G
c.406C>G (p.Arg136Gly)
n.1860C>G
n.1646C>G
c.1528C>G (p.Arg510Gly)
c.1639C>G (p.Arg547Gly)
c.1732C>G (p.Arg578Gly)
c.1618C>G (p.Arg540Gly)
c.1615C>G (p.Arg539Gly)
c.1468C>G (p.Arg490Gly)
c.574C>G (p.Arg192Gly)
2g.39022789G>TCA425866619SOS1n.1519C>A
c.406C>A (p.Arg136=)
n.1860C>A
n.1646C>A
c.1528C>A (p.Arg510=)
c.1639C>A (p.Arg547=)
c.1732C>A (p.Arg578=)
c.1618C>A (p.Arg540=)
c.1615C>A (p.Arg539=)
c.1468C>A (p.Arg490=)
c.574C>A (p.Arg192=)
2g.39022790G>ACA1624571SOS1n.1518C>T
c.405C>T (p.Tyr135=)
n.1859C>T
n.1645C>T
c.1527C>T (p.Tyr509=)
c.1638C>T (p.Tyr546=)
c.1731C>T (p.Tyr577=)
c.1617C>T (p.Tyr539=)
c.1614C>T (p.Tyr538=)
c.1467C>T (p.Tyr489=)
c.573C>T (p.Tyr191=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022790G>CCA346365710SOS1n.1518C>G
c.405C>G (p.Tyr135Ter)
n.1859C>G
n.1645C>G
c.1527C>G (p.Tyr509Ter)
c.1638C>G (p.Tyr546Ter)
c.1731C>G (p.Tyr577Ter)
c.1617C>G (p.Tyr539Ter)
c.1614C>G (p.Tyr538Ter)
c.1467C>G (p.Tyr489Ter)
c.573C>G (p.Tyr191Ter)
2g.39022790G=CA1246139547SOS1n.1518C=
c.405C= (p.Tyr135=)
n.1859C=
n.1645C=
c.1527C= (p.Tyr509=)
c.1638C= (p.Tyr546=)
c.1731C= (p.Tyr577=)
c.1617C= (p.Tyr539=)
c.1614C= (p.Tyr538=)
c.1467C= (p.Tyr489=)
c.573C= (p.Tyr191=)
2g.39022790G>TCA346365711SOS1n.1518C>A
c.405C>A (p.Tyr135Ter)
n.1859C>A
n.1645C>A
c.1527C>A (p.Tyr509Ter)
c.1638C>A (p.Tyr546Ter)
c.1731C>A (p.Tyr577Ter)
c.1617C>A (p.Tyr539Ter)
c.1614C>A (p.Tyr538Ter)
c.1467C>A (p.Tyr489Ter)
c.573C>A (p.Tyr191Ter)
2g.39022791T>ACA346365712SOS1n.1517A>T
c.404A>T (p.Tyr135Phe)
n.1858A>T
n.1644A>T
c.1526A>T (p.Tyr509Phe)
c.1637A>T (p.Tyr546Phe)
c.1730A>T (p.Tyr577Phe)
c.1616A>T (p.Tyr539Phe)
c.1613A>T (p.Tyr538Phe)
c.1466A>T (p.Tyr489Phe)
c.572A>T (p.Tyr191Phe)
2g.39022791T>CCA346365713SOS1n.1517A>G
c.404A>G (p.Tyr135Cys)
n.1858A>G
n.1644A>G
c.1526A>G (p.Tyr509Cys)
c.1637A>G (p.Tyr546Cys)
c.1730A>G (p.Tyr577Cys)
c.1616A>G (p.Tyr539Cys)
c.1613A>G (p.Tyr538Cys)
c.1466A>G (p.Tyr489Cys)
c.572A>G (p.Tyr191Cys)
2g.39022791T>GCA346365714SOS1n.1517A>C
c.404A>C (p.Tyr135Ser)
n.1858A>C
n.1644A>C
c.1526A>C (p.Tyr509Ser)
c.1637A>C (p.Tyr546Ser)
c.1730A>C (p.Tyr577Ser)
c.1616A>C (p.Tyr539Ser)
c.1613A>C (p.Tyr538Ser)
c.1466A>C (p.Tyr489Ser)
c.572A>C (p.Tyr191Ser)
ClinVar dbSNP
2g.39022792A>CCA346365715SOS1n.1516T>G
c.403T>G (p.Tyr135Asp)
n.1857T>G
n.1643T>G
c.1525T>G (p.Tyr509Asp)
c.1636T>G (p.Tyr546Asp)
c.1729T>G (p.Tyr577Asp)
c.1615T>G (p.Tyr539Asp)
c.1612T>G (p.Tyr538Asp)
c.1465T>G (p.Tyr489Asp)
c.571T>G (p.Tyr191Asp)
2g.39022792A>GCA346365716SOS1n.1516T>C
c.403T>C (p.Tyr135His)
n.1857T>C
n.1643T>C
c.1525T>C (p.Tyr509His)
c.1636T>C (p.Tyr546His)
c.1729T>C (p.Tyr577His)
c.1615T>C (p.Tyr539His)
c.1612T>C (p.Tyr538His)
c.1465T>C (p.Tyr489His)
c.571T>C (p.Tyr191His)
2g.39022792A>TCA346365717SOS1n.1516T>A
c.403T>A (p.Tyr135Asn)
n.1857T>A
n.1643T>A
c.1525T>A (p.Tyr509Asn)
c.1636T>A (p.Tyr546Asn)
c.1729T>A (p.Tyr577Asn)
c.1615T>A (p.Tyr539Asn)
c.1612T>A (p.Tyr538Asn)
c.1465T>A (p.Tyr489Asn)
c.571T>A (p.Tyr191Asn)
2g.39022793C>ACA346365718SOS1n.1515G>T
c.402G>T (p.Gln134His)
n.1856G>T
n.1642G>T
c.1524G>T (p.Gln508His)
c.1635G>T (p.Gln545His)
c.1728G>T (p.Gln576His)
c.1614G>T (p.Gln538His)
c.1611G>T (p.Gln537His)
c.1464G>T (p.Gln488His)
c.570G>T (p.Gln190His)
2g.39022793C=CA1246139554SOS1n.1515G=
c.402G= (p.Gln134=)
n.1856G=
n.1642G=
c.1524G= (p.Gln508=)
c.1635G= (p.Gln545=)
c.1728G= (p.Gln576=)
c.1614G= (p.Gln538=)
c.1611G= (p.Gln537=)
c.1464G= (p.Gln488=)
c.570G= (p.Gln190=)
2g.39022793C>GCA346365719SOS1n.1515G>C
c.402G>C (p.Gln134His)
n.1856G>C
n.1642G>C
c.1524G>C (p.Gln508His)
c.1635G>C (p.Gln545His)
c.1728G>C (p.Gln576His)
c.1614G>C (p.Gln538His)
c.1611G>C (p.Gln537His)
c.1464G>C (p.Gln488His)
c.570G>C (p.Gln190His)
2g.39022793C>TCA425866622SOS1n.1515G>A
c.402G>A (p.Gln134=)
n.1856G>A
n.1642G>A
c.1524G>A (p.Gln508=)
c.1635G>A (p.Gln545=)
c.1728G>A (p.Gln576=)
c.1614G>A (p.Gln538=)
c.1611G>A (p.Gln537=)
c.1464G>A (p.Gln488=)
c.570G>A (p.Gln190=)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022794T>ACA346365721SOS1n.1514A>T
c.401A>T (p.Gln134Leu)
n.1855A>T
n.1641A>T
c.1523A>T (p.Gln508Leu)
c.1634A>T (p.Gln545Leu)
c.1727A>T (p.Gln576Leu)
c.1613A>T (p.Gln538Leu)
c.1610A>T (p.Gln537Leu)
c.1463A>T (p.Gln488Leu)
c.569A>T (p.Gln190Leu)
2g.39022794T>CCA1624572SOS1n.1514A>G
c.401A>G (p.Gln134Arg)
n.1855A>G
n.1641A>G
c.1523A>G (p.Gln508Arg)
c.1634A>G (p.Gln545Arg)
c.1727A>G (p.Gln576Arg)
c.1613A>G (p.Gln538Arg)
c.1610A>G (p.Gln537Arg)
c.1463A>G (p.Gln488Arg)
c.569A>G (p.Gln190Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022794T>GCA346365720SOS1n.1514A>C
c.401A>C (p.Gln134Pro)
n.1855A>C
n.1641A>C
c.1523A>C (p.Gln508Pro)
c.1634A>C (p.Gln545Pro)
c.1727A>C (p.Gln576Pro)
c.1613A>C (p.Gln538Pro)
c.1610A>C (p.Gln537Pro)
c.1463A>C (p.Gln488Pro)
c.569A>C (p.Gln190Pro)
gnomAD v4
2g.39022794T=CA1246139557SOS1n.1514A=
c.401A= (p.Gln134=)
n.1855A=
n.1641A=
c.1523A= (p.Gln508=)
c.1634A= (p.Gln545=)
c.1727A= (p.Gln576=)
c.1613A= (p.Gln538=)
c.1610A= (p.Gln537=)
c.1463A= (p.Gln488=)
c.569A= (p.Gln190=)
2g.39022794_39022802delCA2586964754SOS1n.1506_1514del
c.393_401del (p.Ile131_Gln134delinsMet)
n.1847_1855del
n.1633_1641del
c.1515_1523del (p.Ile505_Gln508delinsMet)
c.1626_1634del (p.Ile542_Gln545delinsMet)
c.1719_1727del (p.Ile573_Gln576delinsMet)
c.1605_1613del (p.Ile535_Gln538delinsMet)
c.1602_1610del (p.Ile534_Gln537delinsMet)
c.1455_1463del (p.Ile485_Gln488delinsMet)
c.561_569del (p.Ile187_Gln190delinsMet)
2g.39022795G>ACA346365722SOS1n.1513C>T
c.400C>T (p.Gln134Ter)
n.1854C>T
n.1640C>T
c.1522C>T (p.Gln508Ter)
c.1633C>T (p.Gln545Ter)
c.1726C>T (p.Gln576Ter)
c.1612C>T (p.Gln538Ter)
c.1609C>T (p.Gln537Ter)
c.1462C>T (p.Gln488Ter)
c.568C>T (p.Gln190Ter)
gnomAD v4
2g.39022795G>CCA346365723SOS1n.1513C>G
c.400C>G (p.Gln134Glu)
n.1854C>G
n.1640C>G
c.1522C>G (p.Gln508Glu)
c.1633C>G (p.Gln545Glu)
c.1726C>G (p.Gln576Glu)
c.1612C>G (p.Gln538Glu)
c.1609C>G (p.Gln537Glu)
c.1462C>G (p.Gln488Glu)
c.568C>G (p.Gln190Glu)
2g.39022795G>TCA346365724SOS1n.1513C>A
c.400C>A (p.Gln134Lys)
n.1854C>A
n.1640C>A
c.1522C>A (p.Gln508Lys)
c.1633C>A (p.Gln545Lys)
c.1726C>A (p.Gln576Lys)
c.1612C>A (p.Gln538Lys)
c.1609C>A (p.Gln537Lys)
c.1462C>A (p.Gln488Lys)
c.568C>A (p.Gln190Lys)
2g.39022795_39022798delinsTTTTCA2580066438SOS1n.1510_1513delinsAAAA
c.397_400delinsAAAA (p.Leu133_Gln134delinsLysLys)
n.1851_1854delinsAAAA
n.1637_1640delinsAAAA
c.1519_1522delinsAAAA (p.Leu507_Gln508delinsLysLys)
c.1630_1633delinsAAAA (p.Leu544_Gln545delinsLysLys)
c.1723_1726delinsAAAA (p.Leu575_Gln576delinsLysLys)
c.1609_1612delinsAAAA (p.Leu537_Gln538delinsLysLys)
c.1606_1609delinsAAAA (p.Leu536_Gln537delinsLysLys)
c.1459_1462delinsAAAA (p.Leu487_Gln488delinsLysLys)
c.565_568delinsAAAA (p.Leu189_Gln190delinsLysLys)
ClinVar dbSNP
2g.39022796T>ACA346365725SOS1n.1512A>T
c.399A>T (p.Leu133Phe)
n.1853A>T
n.1639A>T
c.1521A>T (p.Leu507Phe)
c.1632A>T (p.Leu544Phe)
c.1725A>T (p.Leu575Phe)
c.1611A>T (p.Leu537Phe)
c.1608A>T (p.Leu536Phe)
c.1461A>T (p.Leu487Phe)
c.567A>T (p.Leu189Phe)
2g.39022796T>CCA425866623SOS1n.1512A>G
c.399A>G (p.Leu133=)
n.1853A>G
n.1639A>G
c.1521A>G (p.Leu507=)
c.1632A>G (p.Leu544=)
c.1725A>G (p.Leu575=)
c.1611A>G (p.Leu537=)
c.1608A>G (p.Leu536=)
c.1461A>G (p.Leu487=)
c.567A>G (p.Leu189=)
2g.39022796T>GCA346365726SOS1n.1512A>C
c.399A>C (p.Leu133Phe)
n.1853A>C
n.1639A>C
c.1521A>C (p.Leu507Phe)
c.1632A>C (p.Leu544Phe)
c.1725A>C (p.Leu575Phe)
c.1611A>C (p.Leu537Phe)
c.1608A>C (p.Leu536Phe)
c.1461A>C (p.Leu487Phe)
c.567A>C (p.Leu189Phe)
dbSNP
2g.39022796T=CA1246139560SOS1n.1512A=
c.399A= (p.Leu133=)
n.1853A=
n.1639A=
c.1521A= (p.Leu507=)
c.1632A= (p.Leu544=)
c.1725A= (p.Leu575=)
c.1611A= (p.Leu537=)
c.1608A= (p.Leu536=)
c.1461A= (p.Leu487=)
c.567A= (p.Leu189=)
2g.39022797A>CCA346365727SOS1n.1511T>G
c.398T>G (p.Leu133Ter)
n.1852T>G
n.1638T>G
c.1520T>G (p.Leu507Ter)
c.1631T>G (p.Leu544Ter)
c.1724T>G (p.Leu575Ter)
c.1610T>G (p.Leu537Ter)
c.1607T>G (p.Leu536Ter)
c.1460T>G (p.Leu487Ter)
c.566T>G (p.Leu189Ter)
2g.39022797A>GCA346365728SOS1n.1511T>C
c.398T>C (p.Leu133Ser)
n.1852T>C
n.1638T>C
c.1520T>C (p.Leu507Ser)
c.1631T>C (p.Leu544Ser)
c.1724T>C (p.Leu575Ser)
c.1610T>C (p.Leu537Ser)
c.1607T>C (p.Leu536Ser)
c.1460T>C (p.Leu487Ser)
c.566T>C (p.Leu189Ser)
gnomAD v4
2g.39022797A>TCA346365729SOS1n.1511T>A
c.398T>A (p.Leu133Ter)
n.1852T>A
n.1638T>A
c.1520T>A (p.Leu507Ter)
c.1631T>A (p.Leu544Ter)
c.1724T>A (p.Leu575Ter)
c.1610T>A (p.Leu537Ter)
c.1607T>A (p.Leu536Ter)
c.1460T>A (p.Leu487Ter)
c.566T>A (p.Leu189Ter)
2g.39022798A>CCA346365730SOS1n.1510T>G
c.397T>G (p.Leu133Val)
n.1851T>G
n.1637T>G
c.1519T>G (p.Leu507Val)
c.1630T>G (p.Leu544Val)
c.1723T>G (p.Leu575Val)
c.1609T>G (p.Leu537Val)
c.1606T>G (p.Leu536Val)
c.1459T>G (p.Leu487Val)
c.565T>G (p.Leu189Val)
2g.39022798A>GCA425866624SOS1n.1510T>C
c.397T>C (p.Leu133=)
n.1851T>C
n.1637T>C
c.1519T>C (p.Leu507=)
c.1630T>C (p.Leu544=)
c.1723T>C (p.Leu575=)
c.1609T>C (p.Leu537=)
c.1606T>C (p.Leu536=)
c.1459T>C (p.Leu487=)
c.565T>C (p.Leu189=)
2g.39022798A>TCA346365731SOS1n.1510T>A
c.397T>A (p.Leu133Ile)
n.1851T>A
n.1637T>A
c.1519T>A (p.Leu507Ile)
c.1630T>A (p.Leu544Ile)
c.1723T>A (p.Leu575Ile)
c.1609T>A (p.Leu537Ile)
c.1606T>A (p.Leu536Ile)
c.1459T>A (p.Leu487Ile)
c.565T>A (p.Leu189Ile)
2g.39022799A=CA1246139562SOS1n.1509T=
c.396T= (p.Ser132=)
n.1850T=
n.1636T=
c.1518T= (p.Ser506=)
c.1629T= (p.Ser543=)
c.1722T= (p.Ser574=)
c.1608T= (p.Ser536=)
c.1605T= (p.Ser535=)
c.1458T= (p.Ser486=)
c.564T= (p.Ser188=)
2g.39022799A>CCA425866625SOS1n.1509T>G
c.396T>G (p.Ser132=)
n.1850T>G
n.1636T>G
c.1518T>G (p.Ser506=)
c.1629T>G (p.Ser543=)
c.1722T>G (p.Ser574=)
c.1608T>G (p.Ser536=)
c.1605T>G (p.Ser535=)
c.1458T>G (p.Ser486=)
c.564T>G (p.Ser188=)
dbSNP gnomAD v3 gnomAD v4
2g.39022799A>GCA425866626SOS1n.1509T>C
c.396T>C (p.Ser132=)
n.1850T>C
n.1636T>C
c.1518T>C (p.Ser506=)
c.1629T>C (p.Ser543=)
c.1722T>C (p.Ser574=)
c.1608T>C (p.Ser536=)
c.1605T>C (p.Ser535=)
c.1458T>C (p.Ser486=)
c.564T>C (p.Ser188=)
2g.39022799A>TCA425866627SOS1n.1509T>A
c.396T>A (p.Ser132=)
n.1850T>A
n.1636T>A
c.1518T>A (p.Ser506=)
c.1629T>A (p.Ser543=)
c.1722T>A (p.Ser574=)
c.1608T>A (p.Ser536=)
c.1605T>A (p.Ser535=)
c.1458T>A (p.Ser486=)
c.564T>A (p.Ser188=)
2g.39022800G>ACA346365732SOS1n.1508C>T
c.395C>T (p.Ser132Phe)
n.1849C>T
n.1635C>T
c.1517C>T (p.Ser506Phe)
c.1628C>T (p.Ser543Phe)
c.1721C>T (p.Ser574Phe)
c.1607C>T (p.Ser536Phe)
c.1604C>T (p.Ser535Phe)
c.1457C>T (p.Ser486Phe)
c.563C>T (p.Ser188Phe)
gnomAD v4
2g.39022800G>CCA346365733SOS1n.1508C>G
c.395C>G (p.Ser132Cys)
n.1849C>G
n.1635C>G
c.1517C>G (p.Ser506Cys)
c.1628C>G (p.Ser543Cys)
c.1721C>G (p.Ser574Cys)
c.1607C>G (p.Ser536Cys)
c.1604C>G (p.Ser535Cys)
c.1457C>G (p.Ser486Cys)
c.563C>G (p.Ser188Cys)
gnomAD v4
2g.39022800G>TCA346365734SOS1n.1508C>A
c.395C>A (p.Ser132Tyr)
n.1849C>A
n.1635C>A
c.1517C>A (p.Ser506Tyr)
c.1628C>A (p.Ser543Tyr)
c.1721C>A (p.Ser574Tyr)
c.1607C>A (p.Ser536Tyr)
c.1604C>A (p.Ser535Tyr)
c.1457C>A (p.Ser486Tyr)
c.563C>A (p.Ser188Tyr)
2g.39022801A=CA1246139566SOS1n.1507T=
c.394T= (p.Ser132=)
n.1848T=
n.1634T=
c.1516T= (p.Ser506=)
c.1627T= (p.Ser543=)
c.1720T= (p.Ser574=)
c.1606T= (p.Ser536=)
c.1603T= (p.Ser535=)
c.1456T= (p.Ser486=)
c.562T= (p.Ser188=)
2g.39022801A>CCA346365736SOS1n.1507T>G
c.394T>G (p.Ser132Ala)
n.1848T>G
n.1634T>G
c.1516T>G (p.Ser506Ala)
c.1627T>G (p.Ser543Ala)
c.1720T>G (p.Ser574Ala)
c.1606T>G (p.Ser536Ala)
c.1603T>G (p.Ser535Ala)
c.1456T>G (p.Ser486Ala)
c.562T>G (p.Ser188Ala)
2g.39022801A>GCA16042484SOS1n.1507T>C
c.394T>C (p.Ser132Pro)
n.1848T>C
n.1634T>C
c.1516T>C (p.Ser506Pro)
c.1627T>C (p.Ser543Pro)
c.1720T>C (p.Ser574Pro)
c.1606T>C (p.Ser536Pro)
c.1603T>C (p.Ser535Pro)
c.1456T>C (p.Ser486Pro)
c.562T>C (p.Ser188Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39022801A>TCA346365735SOS1n.1507T>A
c.394T>A (p.Ser132Thr)
n.1848T>A
n.1634T>A
c.1516T>A (p.Ser506Thr)
c.1627T>A (p.Ser543Thr)
c.1720T>A (p.Ser574Thr)
c.1606T>A (p.Ser536Thr)
c.1603T>A (p.Ser535Thr)
c.1456T>A (p.Ser486Thr)
c.562T>A (p.Ser188Thr)
2g.39022802T>ACA425866628SOS1n.1506A>T
c.393A>T (p.Ile131=)
n.1847A>T
n.1633A>T
c.1515A>T (p.Ile505=)
c.1626A>T (p.Ile542=)
c.1719A>T (p.Ile573=)
c.1605A>T (p.Ile535=)
c.1602A>T (p.Ile534=)
c.1455A>T (p.Ile485=)
c.561A>T (p.Ile187=)
2g.39022802T>CCA1624573SOS1n.1506A>G
c.393A>G (p.Ile131Met)
n.1847A>G
n.1633A>G
c.1515A>G (p.Ile505Met)
c.1626A>G (p.Ile542Met)
c.1719A>G (p.Ile573Met)
c.1605A>G (p.Ile535Met)
c.1602A>G (p.Ile534Met)
c.1455A>G (p.Ile485Met)
c.561A>G (p.Ile187Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022802T>GCA425866629SOS1n.1506A>C
c.393A>C (p.Ile131=)
n.1847A>C
n.1633A>C
c.1515A>C (p.Ile505=)
c.1626A>C (p.Ile542=)
c.1719A>C (p.Ile573=)
c.1605A>C (p.Ile535=)
c.1602A>C (p.Ile534=)
c.1455A>C (p.Ile485=)
c.561A>C (p.Ile187=)
2g.39022802T=CA1246139571SOS1n.1506A=
c.393A= (p.Ile131=)
n.1847A=
n.1633A=
c.1515A= (p.Ile505=)
c.1626A= (p.Ile542=)
c.1719A= (p.Ile573=)
c.1605A= (p.Ile535=)
c.1602A= (p.Ile534=)
c.1455A= (p.Ile485=)
c.561A= (p.Ile187=)
2g.39022803A>CCA346365737SOS1n.1505T>G
c.392T>G (p.Ile131Arg)
n.1846T>G
n.1632T>G
c.1514T>G (p.Ile505Arg)
c.1625T>G (p.Ile542Arg)
c.1718T>G (p.Ile573Arg)
c.1604T>G (p.Ile535Arg)
c.1601T>G (p.Ile534Arg)
c.1454T>G (p.Ile485Arg)
c.560T>G (p.Ile187Arg)
2g.39022803A>GCA346365738SOS1n.1505T>C
c.392T>C (p.Ile131Thr)
n.1846T>C
n.1632T>C
c.1514T>C (p.Ile505Thr)
c.1625T>C (p.Ile542Thr)
c.1718T>C (p.Ile573Thr)
c.1604T>C (p.Ile535Thr)
c.1601T>C (p.Ile534Thr)
c.1454T>C (p.Ile485Thr)
c.560T>C (p.Ile187Thr)
2g.39022803A>TCA346365739SOS1n.1505T>A
c.392T>A (p.Ile131Lys)
n.1846T>A
n.1632T>A
c.1514T>A (p.Ile505Lys)
c.1625T>A (p.Ile542Lys)
c.1718T>A (p.Ile573Lys)
c.1604T>A (p.Ile535Lys)
c.1601T>A (p.Ile534Lys)
c.1454T>A (p.Ile485Lys)
c.560T>A (p.Ile187Lys)
2g.39022804T>ACA346365740SOS1n.1504A>T
c.391A>T (p.Ile131Leu)
n.1845A>T
n.1631A>T
c.1513A>T (p.Ile505Leu)
c.1624A>T (p.Ile542Leu)
c.1717A>T (p.Ile573Leu)
c.1603A>T (p.Ile535Leu)
c.1600A>T (p.Ile534Leu)
c.1453A>T (p.Ile485Leu)
c.559A>T (p.Ile187Leu)
gnomAD v4
2g.39022804T>CCA1624574SOS1n.1504A>G
c.391A>G (p.Ile131Val)
n.1845A>G
n.1631A>G
c.1513A>G (p.Ile505Val)
c.1624A>G (p.Ile542Val)
c.1717A>G (p.Ile573Val)
c.1603A>G (p.Ile535Val)
c.1600A>G (p.Ile534Val)
c.1453A>G (p.Ile485Val)
c.559A>G (p.Ile187Val)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022804T>GCA346365741SOS1n.1504A>C
c.391A>C (p.Ile131Leu)
n.1845A>C
n.1631A>C
c.1513A>C (p.Ile505Leu)
c.1624A>C (p.Ile542Leu)
c.1717A>C (p.Ile573Leu)
c.1603A>C (p.Ile535Leu)
c.1600A>C (p.Ile534Leu)
c.1453A>C (p.Ile485Leu)
c.559A>C (p.Ile187Leu)
gnomAD v4
2g.39022804T=CA1246139580SOS1n.1504A=
c.391A= (p.Ile131=)
n.1845A=
n.1631A=
c.1513A= (p.Ile505=)
c.1624A= (p.Ile542=)
c.1717A= (p.Ile573=)
c.1603A= (p.Ile535=)
c.1600A= (p.Ile534=)
c.1453A= (p.Ile485=)
c.559A= (p.Ile187=)
2g.39022805C>ACA346365742SOS1n.1503G>T
c.390G>T (p.Leu130Phe)
n.1844G>T
n.1630G>T
c.1512G>T (p.Leu504Phe)
c.1623G>T (p.Leu541Phe)
c.1716G>T (p.Leu572Phe)
c.1602G>T (p.Leu534Phe)
c.1599G>T (p.Leu533Phe)
c.1452G>T (p.Leu484Phe)
c.558G>T (p.Leu186Phe)
2g.39022805C=CA1246139586SOS1n.1503G=
c.390G= (p.Leu130=)
n.1844G=
n.1630G=
c.1512G= (p.Leu504=)
c.1623G= (p.Leu541=)
c.1716G= (p.Leu572=)
c.1602G= (p.Leu534=)
c.1599G= (p.Leu533=)
c.1452G= (p.Leu484=)
c.558G= (p.Leu186=)
2g.39022805C>GCA346365743SOS1n.1503G>C
c.390G>C (p.Leu130Phe)
n.1844G>C
n.1630G>C
c.1512G>C (p.Leu504Phe)
c.1623G>C (p.Leu541Phe)
c.1716G>C (p.Leu572Phe)
c.1602G>C (p.Leu534Phe)
c.1599G>C (p.Leu533Phe)
c.1452G>C (p.Leu484Phe)
c.558G>C (p.Leu186Phe)
2g.39022805C>TCA1624575SOS1n.1503G>A
c.390G>A (p.Leu130=)
n.1844G>A
n.1630G>A
c.1512G>A (p.Leu504=)
c.1623G>A (p.Leu541=)
c.1716G>A (p.Leu572=)
c.1602G>A (p.Leu534=)
c.1599G>A (p.Leu533=)
c.1452G>A (p.Leu484=)
c.558G>A (p.Leu186=)
dbSNP ExAC gnomAD v2
2g.39022806A>CCA346365744SOS1n.1502T>G
c.389T>G (p.Leu130Trp)
n.1843T>G
n.1629T>G
c.1511T>G (p.Leu504Trp)
c.1622T>G (p.Leu541Trp)
c.1715T>G (p.Leu572Trp)
c.1601T>G (p.Leu534Trp)
c.1598T>G (p.Leu533Trp)
c.1451T>G (p.Leu484Trp)
c.557T>G (p.Leu186Trp)
2g.39022806A>GCA346365745SOS1n.1502T>C
c.389T>C (p.Leu130Ser)
n.1843T>C
n.1629T>C
c.1511T>C (p.Leu504Ser)
c.1622T>C (p.Leu541Ser)
c.1715T>C (p.Leu572Ser)
c.1601T>C (p.Leu534Ser)
c.1598T>C (p.Leu533Ser)
c.1451T>C (p.Leu484Ser)
c.557T>C (p.Leu186Ser)
2g.39022806A>TCA346365746SOS1n.1502T>A
c.389T>A (p.Leu130Ter)
n.1843T>A
n.1629T>A
c.1511T>A (p.Leu504Ter)
c.1622T>A (p.Leu541Ter)
c.1715T>A (p.Leu572Ter)
c.1601T>A (p.Leu534Ter)
c.1598T>A (p.Leu533Ter)
c.1451T>A (p.Leu484Ter)
c.557T>A (p.Leu186Ter)
2g.39022807A=CA1246139593SOS1n.1501T=
c.388T= (p.Leu130=)
n.1842T=
n.1628T=
c.1510T= (p.Leu504=)
c.1621T= (p.Leu541=)
c.1714T= (p.Leu572=)
c.1600T= (p.Leu534=)
c.1597T= (p.Leu533=)
c.1450T= (p.Leu484=)
c.556T= (p.Leu186=)
2g.39022807A>CCA346365748SOS1n.1501T>G
c.388T>G (p.Leu130Val)
n.1842T>G
n.1628T>G
c.1510T>G (p.Leu504Val)
c.1621T>G (p.Leu541Val)
c.1714T>G (p.Leu572Val)
c.1600T>G (p.Leu534Val)
c.1597T>G (p.Leu533Val)
c.1450T>G (p.Leu484Val)
c.556T>G (p.Leu186Val)
2g.39022807A>GCA1624576SOS1n.1501T>C
c.388T>C (p.Leu130=)
n.1842T>C
n.1628T>C
c.1510T>C (p.Leu504=)
c.1621T>C (p.Leu541=)
c.1714T>C (p.Leu572=)
c.1600T>C (p.Leu534=)
c.1597T>C (p.Leu533=)
c.1450T>C (p.Leu484=)
c.556T>C (p.Leu186=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022807A>TCA346365747SOS1n.1501T>A
c.388T>A (p.Leu130Met)
n.1842T>A
n.1628T>A
c.1510T>A (p.Leu504Met)
c.1621T>A (p.Leu541Met)
c.1714T>A (p.Leu572Met)
c.1600T>A (p.Leu534Met)
c.1597T>A (p.Leu533Met)
c.1450T>A (p.Leu484Met)
c.556T>A (p.Leu186Met)
2g.39022808T>ACA425866633SOS1n.1500A>T
c.387A>T (p.Ala129=)
n.1841A>T
n.1627A>T
c.1509A>T (p.Ala503=)
c.1620A>T (p.Ala540=)
c.1713A>T (p.Ala571=)
c.1599A>T (p.Ala533=)
c.1596A>T (p.Ala532=)
c.1449A>T (p.Ala483=)
c.555A>T (p.Ala185=)
2g.39022808T>CCA425866632SOS1n.1500A>G
c.387A>G (p.Ala129=)
n.1841A>G
n.1627A>G
c.1509A>G (p.Ala503=)
c.1620A>G (p.Ala540=)
c.1713A>G (p.Ala571=)
c.1599A>G (p.Ala533=)
c.1596A>G (p.Ala532=)
c.1449A>G (p.Ala483=)
c.555A>G (p.Ala185=)
2g.39022808T>GCA425866631SOS1n.1500A>C
c.387A>C (p.Ala129=)
n.1841A>C
n.1627A>C
c.1509A>C (p.Ala503=)
c.1620A>C (p.Ala540=)
c.1713A>C (p.Ala571=)
c.1599A>C (p.Ala533=)
c.1596A>C (p.Ala532=)
c.1449A>C (p.Ala483=)
c.555A>C (p.Ala185=)
2g.39022809G>ACA346365749SOS1n.1499C>T
c.386C>T (p.Ala129Val)
n.1840C>T
n.1626C>T
c.1508C>T (p.Ala503Val)
c.1619C>T (p.Ala540Val)
c.1712C>T (p.Ala571Val)
c.1598C>T (p.Ala533Val)
c.1595C>T (p.Ala532Val)
c.1448C>T (p.Ala483Val)
c.554C>T (p.Ala185Val)
ClinVar dbSNP
2g.39022809G>CCA346365750SOS1n.1499C>G
c.386C>G (p.Ala129Gly)
n.1840C>G
n.1626C>G
c.1508C>G (p.Ala503Gly)
c.1619C>G (p.Ala540Gly)
c.1712C>G (p.Ala571Gly)
c.1598C>G (p.Ala533Gly)
c.1595C>G (p.Ala532Gly)
c.1448C>G (p.Ala483Gly)
c.554C>G (p.Ala185Gly)
2g.39022809G>TCA346365751SOS1n.1499C>A
c.386C>A (p.Ala129Glu)
n.1840C>A
n.1626C>A
c.1508C>A (p.Ala503Glu)
c.1619C>A (p.Ala540Glu)
c.1712C>A (p.Ala571Glu)
c.1598C>A (p.Ala533Glu)
c.1595C>A (p.Ala532Glu)
c.1448C>A (p.Ala483Glu)
c.554C>A (p.Ala185Glu)
2g.39022810C>ACA346365752SOS1n.1498G>T
c.385G>T (p.Ala129Ser)
n.1839G>T
n.1625G>T
c.1507G>T (p.Ala503Ser)
c.1618G>T (p.Ala540Ser)
c.1711G>T (p.Ala571Ser)
c.1597G>T (p.Ala533Ser)
c.1594G>T (p.Ala532Ser)
c.1447G>T (p.Ala483Ser)
c.553G>T (p.Ala185Ser)
2g.39022810C>GCA346365753SOS1n.1498G>C
c.385G>C (p.Ala129Pro)
n.1839G>C
n.1625G>C
c.1507G>C (p.Ala503Pro)
c.1618G>C (p.Ala540Pro)
c.1711G>C (p.Ala571Pro)
c.1597G>C (p.Ala533Pro)
c.1594G>C (p.Ala532Pro)
c.1447G>C (p.Ala483Pro)
c.553G>C (p.Ala185Pro)
2g.39022810C>TCA346365754SOS1n.1498G>A
c.385G>A (p.Ala129Thr)
n.1839G>A
n.1625G>A
c.1507G>A (p.Ala503Thr)
c.1618G>A (p.Ala540Thr)
c.1711G>A (p.Ala571Thr)
c.1597G>A (p.Ala533Thr)
c.1594G>A (p.Ala532Thr)
c.1447G>A (p.Ala483Thr)
c.553G>A (p.Ala185Thr)
gnomAD v4
2g.39022811T>ACA425866635SOS1n.1497A>T
c.384A>T (p.Ala128=)
n.1838A>T
n.1624A>T
c.1506A>T (p.Ala502=)
c.1617A>T (p.Ala539=)
c.1710A>T (p.Ala570=)
c.1596A>T (p.Ala532=)
c.1593A>T (p.Ala531=)
c.1446A>T (p.Ala482=)
c.552A>T (p.Ala184=)
2g.39022811T>CCA425866636SOS1n.1497A>G
c.384A>G (p.Ala128=)
n.1838A>G
n.1624A>G
c.1506A>G (p.Ala502=)
c.1617A>G (p.Ala539=)
c.1710A>G (p.Ala570=)
c.1596A>G (p.Ala532=)
c.1593A>G (p.Ala531=)
c.1446A>G (p.Ala482=)
c.552A>G (p.Ala184=)
2g.39022811T>GCA425866637SOS1n.1497A>C
c.384A>C (p.Ala128=)
n.1838A>C
n.1624A>C
c.1506A>C (p.Ala502=)
c.1617A>C (p.Ala539=)
c.1710A>C (p.Ala570=)
c.1596A>C (p.Ala532=)
c.1593A>C (p.Ala531=)
c.1446A>C (p.Ala482=)
c.552A>C (p.Ala184=)
2g.39022812G>ACA346365757SOS1n.1496C>T
c.383C>T (p.Ala128Val)
n.1837C>T
n.1623C>T
c.1505C>T (p.Ala502Val)
c.1616C>T (p.Ala539Val)
c.1709C>T (p.Ala570Val)
c.1595C>T (p.Ala532Val)
c.1592C>T (p.Ala531Val)
c.1445C>T (p.Ala482Val)
c.551C>T (p.Ala184Val)
2g.39022812G>CCA346365756SOS1n.1496C>G
c.383C>G (p.Ala128Gly)
n.1837C>G
n.1623C>G
c.1505C>G (p.Ala502Gly)
c.1616C>G (p.Ala539Gly)
c.1709C>G (p.Ala570Gly)
c.1595C>G (p.Ala532Gly)
c.1592C>G (p.Ala531Gly)
c.1445C>G (p.Ala482Gly)
c.551C>G (p.Ala184Gly)
2g.39022812G>TCA346365755SOS1n.1496C>A
c.383C>A (p.Ala128Glu)
n.1837C>A
n.1623C>A
c.1505C>A (p.Ala502Glu)
c.1616C>A (p.Ala539Glu)
c.1709C>A (p.Ala570Glu)
c.1595C>A (p.Ala532Glu)
c.1592C>A (p.Ala531Glu)
c.1445C>A (p.Ala482Glu)
c.551C>A (p.Ala184Glu)
2g.39022813C>ACA346365758SOS1n.1495G>T
c.382G>T (p.Ala128Ser)
n.1836G>T
n.1622G>T
c.1504G>T (p.Ala502Ser)
c.1615G>T (p.Ala539Ser)
c.1708G>T (p.Ala570Ser)
c.1594G>T (p.Ala532Ser)
c.1591G>T (p.Ala531Ser)
c.1444G>T (p.Ala482Ser)
c.550G>T (p.Ala184Ser)
2g.39022813C>GCA346365759SOS1n.1495G>C
c.382G>C (p.Ala128Pro)
n.1836G>C
n.1622G>C
c.1504G>C (p.Ala502Pro)
c.1615G>C (p.Ala539Pro)
c.1708G>C (p.Ala570Pro)
c.1594G>C (p.Ala532Pro)
c.1591G>C (p.Ala531Pro)
c.1444G>C (p.Ala482Pro)
c.550G>C (p.Ala184Pro)
2g.39022813C>TCA346365760SOS1n.1495G>A
c.382G>A (p.Ala128Thr)
n.1836G>A
n.1622G>A
c.1504G>A (p.Ala502Thr)
c.1615G>A (p.Ala539Thr)
c.1708G>A (p.Ala570Thr)
c.1594G>A (p.Ala532Thr)
c.1591G>A (p.Ala531Thr)
c.1444G>A (p.Ala482Thr)
c.550G>A (p.Ala184Thr)
gnomAD v4
2g.39022814C>ACA346365761SOS1n.1494G>T
c.381G>T (p.Met127Ile)
n.1835G>T
n.1621G>T
c.1503G>T (p.Met501Ile)
c.1614G>T (p.Met538Ile)
c.1707G>T (p.Met569Ile)
c.1593G>T (p.Met531Ile)
c.1590G>T (p.Met530Ile)
c.1443G>T (p.Met481Ile)
c.549G>T (p.Met183Ile)
2g.39022814C=CA1246139604SOS1n.1494G=
c.381G= (p.Met127=)
n.1835G=
n.1621G=
c.1503G= (p.Met501=)
c.1614G= (p.Met538=)
c.1707G= (p.Met569=)
c.1593G= (p.Met531=)
c.1590G= (p.Met530=)
c.1443G= (p.Met481=)
c.549G= (p.Met183=)
2g.39022814C>GCA346365762SOS1n.1494G>C
c.381G>C (p.Met127Ile)
n.1835G>C
n.1621G>C
c.1503G>C (p.Met501Ile)
c.1614G>C (p.Met538Ile)
c.1707G>C (p.Met569Ile)
c.1593G>C (p.Met531Ile)
c.1590G>C (p.Met530Ile)
c.1443G>C (p.Met481Ile)
c.549G>C (p.Met183Ile)
2g.39022814C>TCA346365763SOS1n.1494G>A
c.381G>A (p.Met127Ile)
n.1835G>A
n.1621G>A
c.1503G>A (p.Met501Ile)
c.1614G>A (p.Met538Ile)
c.1707G>A (p.Met569Ile)
c.1593G>A (p.Met531Ile)
c.1590G>A (p.Met530Ile)
c.1443G>A (p.Met481Ile)
c.549G>A (p.Met183Ile)
dbSNP gnomAD v3 gnomAD v4
2g.39022815A=CA1246139607SOS1n.1493T=
c.380T= (p.Met127=)
n.1834T=
n.1620T=
c.1502T= (p.Met501=)
c.1613T= (p.Met538=)
c.1706T= (p.Met569=)
c.1592T= (p.Met531=)
c.1589T= (p.Met530=)
c.1442T= (p.Met481=)
c.548T= (p.Met183=)
2g.39022815A>CCA346365764SOS1n.1493T>G
c.380T>G (p.Met127Arg)
n.1834T>G
n.1620T>G
c.1502T>G (p.Met501Arg)
c.1613T>G (p.Met538Arg)
c.1706T>G (p.Met569Arg)
c.1592T>G (p.Met531Arg)
c.1589T>G (p.Met530Arg)
c.1442T>G (p.Met481Arg)
c.548T>G (p.Met183Arg)
2g.39022815A>GCA346365766SOS1n.1493T>C
c.380T>C (p.Met127Thr)
n.1834T>C
n.1620T>C
c.1502T>C (p.Met501Thr)
c.1613T>C (p.Met538Thr)
c.1706T>C (p.Met569Thr)
c.1592T>C (p.Met531Thr)
c.1589T>C (p.Met530Thr)
c.1442T>C (p.Met481Thr)
c.548T>C (p.Met183Thr)
dbSNP gnomAD v3 gnomAD v4
2g.39022815A>TCA346365765SOS1n.1493T>A
c.380T>A (p.Met127Lys)
n.1834T>A
n.1620T>A
c.1502T>A (p.Met501Lys)
c.1613T>A (p.Met538Lys)
c.1706T>A (p.Met569Lys)
c.1592T>A (p.Met531Lys)
c.1589T>A (p.Met530Lys)
c.1442T>A (p.Met481Lys)
c.548T>A (p.Met183Lys)
2g.39022816T>ACA346365767SOS1n.1492A>T
c.379A>T (p.Met127Leu)
n.1833A>T
n.1619A>T
c.1501A>T (p.Met501Leu)
c.1612A>T (p.Met538Leu)
c.1705A>T (p.Met569Leu)
c.1591A>T (p.Met531Leu)
c.1588A>T (p.Met530Leu)
c.1441A>T (p.Met481Leu)
c.547A>T (p.Met183Leu)
2g.39022816T>CCA346365768SOS1n.1492A>G
c.379A>G (p.Met127Val)
n.1833A>G
n.1619A>G
c.1501A>G (p.Met501Val)
c.1612A>G (p.Met538Val)
c.1705A>G (p.Met569Val)
c.1591A>G (p.Met531Val)
c.1588A>G (p.Met530Val)
c.1441A>G (p.Met481Val)
c.547A>G (p.Met183Val)
2g.39022816T>GCA346365769SOS1n.1492A>C
c.379A>C (p.Met127Leu)
n.1833A>C
n.1619A>C
c.1501A>C (p.Met501Leu)
c.1612A>C (p.Met538Leu)
c.1705A>C (p.Met569Leu)
c.1591A>C (p.Met531Leu)
c.1588A>C (p.Met530Leu)
c.1441A>C (p.Met481Leu)
c.547A>C (p.Met183Leu)
2g.39022817C>ACA346365770SOS1n.1491G>T
c.378G>T (p.Trp126Cys)
n.1832G>T
n.1618G>T
c.1500G>T (p.Trp500Cys)
c.1611G>T (p.Trp537Cys)
c.1704G>T (p.Trp568Cys)
c.1590G>T (p.Trp530Cys)
c.1587G>T (p.Trp529Cys)
c.1440G>T (p.Trp480Cys)
c.546G>T (p.Trp182Cys)
2g.39022817C=CA1246139610SOS1n.1491G=
c.378G= (p.Trp126=)
n.1832G=
n.1618G=
c.1500G= (p.Trp500=)
c.1611G= (p.Trp537=)
c.1704G= (p.Trp568=)
c.1590G= (p.Trp530=)
c.1587G= (p.Trp529=)
c.1440G= (p.Trp480=)
c.546G= (p.Trp182=)
2g.39022817C>GCA346365771SOS1n.1491G>C
c.378G>C (p.Trp126Cys)
n.1832G>C
n.1618G>C
c.1500G>C (p.Trp500Cys)
c.1611G>C (p.Trp537Cys)
c.1704G>C (p.Trp568Cys)
c.1590G>C (p.Trp530Cys)
c.1587G>C (p.Trp529Cys)
c.1440G>C (p.Trp480Cys)
c.546G>C (p.Trp182Cys)
ClinVar dbSNP gnomAD v4
2g.39022817C>TCA346365772SOS1n.1491G>A
c.378G>A (p.Trp126Ter)
n.1832G>A
n.1618G>A
c.1500G>A (p.Trp500Ter)
c.1611G>A (p.Trp537Ter)
c.1704G>A (p.Trp568Ter)
c.1590G>A (p.Trp530Ter)
c.1587G>A (p.Trp529Ter)
c.1440G>A (p.Trp480Ter)
c.546G>A (p.Trp182Ter)
2g.39022818C>ACA346365773SOS1n.1490G>T
c.377G>T (p.Trp126Leu)
n.1831G>T
n.1617G>T
c.1499G>T (p.Trp500Leu)
c.1610G>T (p.Trp537Leu)
c.1703G>T (p.Trp568Leu)
c.1589G>T (p.Trp530Leu)
c.1586G>T (p.Trp529Leu)
c.1439G>T (p.Trp480Leu)
c.545G>T (p.Trp182Leu)
2g.39022818C>GCA346365774SOS1n.1490G>C
c.377G>C (p.Trp126Ser)
n.1831G>C
n.1617G>C
c.1499G>C (p.Trp500Ser)
c.1610G>C (p.Trp537Ser)
c.1703G>C (p.Trp568Ser)
c.1589G>C (p.Trp530Ser)
c.1586G>C (p.Trp529Ser)
c.1439G>C (p.Trp480Ser)
c.545G>C (p.Trp182Ser)
2g.39022818C>TCA346365775SOS1n.1490G>A
c.377G>A (p.Trp126Ter)
n.1831G>A
n.1617G>A
c.1499G>A (p.Trp500Ter)
c.1610G>A (p.Trp537Ter)
c.1703G>A (p.Trp568Ter)
c.1589G>A (p.Trp530Ter)
c.1586G>A (p.Trp529Ter)
c.1439G>A (p.Trp480Ter)
c.545G>A (p.Trp182Ter)
2g.39022819A>CCA346365776SOS1n.1489T>G
c.376T>G (p.Trp126Gly)
n.1830T>G
n.1616T>G
c.1498T>G (p.Trp500Gly)
c.1609T>G (p.Trp537Gly)
c.1702T>G (p.Trp568Gly)
c.1588T>G (p.Trp530Gly)
c.1585T>G (p.Trp529Gly)
c.1438T>G (p.Trp480Gly)
c.544T>G (p.Trp182Gly)
2g.39022819A>GCA346365777SOS1n.1489T>C
c.376T>C (p.Trp126Arg)
n.1830T>C
n.1616T>C
c.1498T>C (p.Trp500Arg)
c.1609T>C (p.Trp537Arg)
c.1702T>C (p.Trp568Arg)
c.1588T>C (p.Trp530Arg)
c.1585T>C (p.Trp529Arg)
c.1438T>C (p.Trp480Arg)
c.544T>C (p.Trp182Arg)
2g.39022819A>TCA346365778SOS1n.1489T>A
c.376T>A (p.Trp126Arg)
n.1830T>A
n.1616T>A
c.1498T>A (p.Trp500Arg)
c.1609T>A (p.Trp537Arg)
c.1702T>A (p.Trp568Arg)
c.1588T>A (p.Trp530Arg)
c.1585T>A (p.Trp529Arg)
c.1438T>A (p.Trp480Arg)
c.544T>A (p.Trp182Arg)
2g.39022820A=CA1246139613SOS1n.1488T=
c.375T= (p.Asn125=)
n.1829T=
n.1615T=
c.1497T= (p.Asn499=)
c.1608T= (p.Asn536=)
c.1701T= (p.Asn567=)
c.1587T= (p.Asn529=)
c.1584T= (p.Asn528=)
c.1437T= (p.Asn479=)
c.543T= (p.Asn181=)
2g.39022820A>CCA346365779SOS1n.1488T>G
c.375T>G (p.Asn125Lys)
n.1829T>G
n.1615T>G
c.1497T>G (p.Asn499Lys)
c.1608T>G (p.Asn536Lys)
c.1701T>G (p.Asn567Lys)
c.1587T>G (p.Asn529Lys)
c.1584T>G (p.Asn528Lys)
c.1437T>G (p.Asn479Lys)
c.543T>G (p.Asn181Lys)
2g.39022820A>GCA1624577SOS1n.1488T>C
c.375T>C (p.Asn125=)
n.1829T>C
n.1615T>C
c.1497T>C (p.Asn499=)
c.1608T>C (p.Asn536=)
c.1701T>C (p.Asn567=)
c.1587T>C (p.Asn529=)
c.1584T>C (p.Asn528=)
c.1437T>C (p.Asn479=)
c.543T>C (p.Asn181=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022820A>TCA346365780SOS1n.1488T>A
c.375T>A (p.Asn125Lys)
n.1829T>A
n.1615T>A
c.1497T>A (p.Asn499Lys)
c.1608T>A (p.Asn536Lys)
c.1701T>A (p.Asn567Lys)
c.1587T>A (p.Asn529Lys)
c.1584T>A (p.Asn528Lys)
c.1437T>A (p.Asn479Lys)
c.543T>A (p.Asn181Lys)
2g.39022821T>ACA346365781SOS1n.1487A>T
c.374A>T (p.Asn125Ile)
n.1828A>T
n.1614A>T
c.1496A>T (p.Asn499Ile)
c.1607A>T (p.Asn536Ile)
c.1700A>T (p.Asn567Ile)
c.1586A>T (p.Asn529Ile)
c.1583A>T (p.Asn528Ile)
c.1436A>T (p.Asn479Ile)
c.542A>T (p.Asn181Ile)
2g.39022821T>CCA346365782SOS1n.1487A>G
c.374A>G (p.Asn125Ser)
n.1828A>G
n.1614A>G
c.1496A>G (p.Asn499Ser)
c.1607A>G (p.Asn536Ser)
c.1700A>G (p.Asn567Ser)
c.1586A>G (p.Asn529Ser)
c.1583A>G (p.Asn528Ser)
c.1436A>G (p.Asn479Ser)
c.542A>G (p.Asn181Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022821T>GCA346365783SOS1n.1487A>C
c.374A>C (p.Asn125Thr)
n.1828A>C
n.1614A>C
c.1496A>C (p.Asn499Thr)
c.1607A>C (p.Asn536Thr)
c.1700A>C (p.Asn567Thr)
c.1586A>C (p.Asn529Thr)
c.1583A>C (p.Asn528Thr)
c.1436A>C (p.Asn479Thr)
c.542A>C (p.Asn181Thr)
2g.39022821T=CA1246139615SOS1n.1487A=
c.374A= (p.Asn125=)
n.1828A=
n.1614A=
c.1496A= (p.Asn499=)
c.1607A= (p.Asn536=)
c.1700A= (p.Asn567=)
c.1586A= (p.Asn529=)
c.1583A= (p.Asn528=)
c.1436A= (p.Asn479=)
c.542A= (p.Asn181=)
2g.39022822T>ACA346365784SOS1n.1486A>T
c.373A>T (p.Asn125Tyr)
n.1827A>T
n.1613A>T
c.1495A>T (p.Asn499Tyr)
c.1606A>T (p.Asn536Tyr)
c.1699A>T (p.Asn567Tyr)
c.1585A>T (p.Asn529Tyr)
c.1582A>T (p.Asn528Tyr)
c.1435A>T (p.Asn479Tyr)
c.541A>T (p.Asn181Tyr)
2g.39022822T>CCA346365785SOS1n.1486A>G
c.373A>G (p.Asn125Asp)
n.1827A>G
n.1613A>G
c.1495A>G (p.Asn499Asp)
c.1606A>G (p.Asn536Asp)
c.1699A>G (p.Asn567Asp)
c.1585A>G (p.Asn529Asp)
c.1582A>G (p.Asn528Asp)
c.1435A>G (p.Asn479Asp)
c.541A>G (p.Asn181Asp)
2g.39022822T>GCA346365786SOS1n.1486A>C
c.373A>C (p.Asn125His)
n.1827A>C
n.1613A>C
c.1495A>C (p.Asn499His)
c.1606A>C (p.Asn536His)
c.1699A>C (p.Asn567His)
c.1585A>C (p.Asn529His)
c.1582A>C (p.Asn528His)
c.1435A>C (p.Asn479His)
c.541A>C (p.Asn181His)
2g.39022823G>ACA425866643SOS1n.1485C>T
c.372C>T (p.Asn124=)
n.1826C>T
n.1612C>T
c.1494C>T (p.Asn498=)
c.1605C>T (p.Asn535=)
c.1698C>T (p.Asn566=)
c.1584C>T (p.Asn528=)
c.1581C>T (p.Asn527=)
c.1434C>T (p.Asn478=)
c.540C>T (p.Asn180=)
2g.39022823G>CCA346365787SOS1n.1485C>G
c.372C>G (p.Asn124Lys)
n.1826C>G
n.1612C>G
c.1494C>G (p.Asn498Lys)
c.1605C>G (p.Asn535Lys)
c.1698C>G (p.Asn566Lys)
c.1584C>G (p.Asn528Lys)
c.1581C>G (p.Asn527Lys)
c.1434C>G (p.Asn478Lys)
c.540C>G (p.Asn180Lys)
2g.39022823G>TCA346365788SOS1n.1485C>A
c.372C>A (p.Asn124Lys)
n.1826C>A
n.1612C>A
c.1494C>A (p.Asn498Lys)
c.1605C>A (p.Asn535Lys)
c.1698C>A (p.Asn566Lys)
c.1584C>A (p.Asn528Lys)
c.1581C>A (p.Asn527Lys)
c.1434C>A (p.Asn478Lys)
c.540C>A (p.Asn180Lys)
2g.39022824T>ACA1624578SOS1n.1484A>T
c.371A>T (p.Asn124Ile)
n.1825A>T
n.1611A>T
c.1493A>T (p.Asn498Ile)
c.1604A>T (p.Asn535Ile)
c.1697A>T (p.Asn566Ile)
c.1583A>T (p.Asn528Ile)
c.1580A>T (p.Asn527Ile)
c.1433A>T (p.Asn478Ile)
c.539A>T (p.Asn180Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022824T>CCA346365789SOS1n.1484A>G
c.371A>G (p.Asn124Ser)
n.1825A>G
n.1611A>G
c.1493A>G (p.Asn498Ser)
c.1604A>G (p.Asn535Ser)
c.1697A>G (p.Asn566Ser)
c.1583A>G (p.Asn528Ser)
c.1580A>G (p.Asn527Ser)
c.1433A>G (p.Asn478Ser)
c.539A>G (p.Asn180Ser)
COSMIC
2g.39022824T>GCA346365790SOS1n.1484A>C
c.371A>C (p.Asn124Thr)
n.1825A>C
n.1611A>C
c.1493A>C (p.Asn498Thr)
c.1604A>C (p.Asn535Thr)
c.1697A>C (p.Asn566Thr)
c.1583A>C (p.Asn528Thr)
c.1580A>C (p.Asn527Thr)
c.1433A>C (p.Asn478Thr)
c.539A>C (p.Asn180Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39022824T=CA1246139619SOS1n.1484A=
c.371A= (p.Asn124=)
n.1825A=
n.1611A=
c.1493A= (p.Asn498=)
c.1604A= (p.Asn535=)
c.1697A= (p.Asn566=)
c.1583A= (p.Asn528=)
c.1580A= (p.Asn527=)
c.1433A= (p.Asn478=)
c.539A= (p.Asn180=)
2g.39022825T>ACA346365791SOS1n.1483A>T
c.370A>T (p.Asn124Tyr)
n.1824A>T
n.1610A>T
c.1492A>T (p.Asn498Tyr)
c.1603A>T (p.Asn535Tyr)
c.1696A>T (p.Asn566Tyr)
c.1582A>T (p.Asn528Tyr)
c.1579A>T (p.Asn527Tyr)
c.1432A>T (p.Asn478Tyr)
c.538A>T (p.Asn180Tyr)
2g.39022825T>CCA346365792SOS1n.1483A>G
c.370A>G (p.Asn124Asp)
n.1824A>G
n.1610A>G
c.1492A>G (p.Asn498Asp)
c.1603A>G (p.Asn535Asp)
c.1696A>G (p.Asn566Asp)
c.1582A>G (p.Asn528Asp)
c.1579A>G (p.Asn527Asp)
c.1432A>G (p.Asn478Asp)
c.538A>G (p.Asn180Asp)
2g.39022825T>GCA346365793SOS1n.1483A>C
c.370A>C (p.Asn124His)
n.1824A>C
n.1610A>C
c.1492A>C (p.Asn498His)
c.1603A>C (p.Asn535His)
c.1696A>C (p.Asn566His)
c.1582A>C (p.Asn528His)
c.1579A>C (p.Asn527His)
c.1432A>C (p.Asn478His)
c.538A>C (p.Asn180His)
2g.39022826T>ACA346365794SOS1n.1482A>T
c.369A>T (p.Lys123Asn)
n.1823A>T
n.1609A>T
c.1491A>T (p.Lys497Asn)
c.1602A>T (p.Lys534Asn)
c.1695A>T (p.Lys565Asn)
c.1581A>T (p.Lys527Asn)
c.1578A>T (p.Lys526Asn)
c.1431A>T (p.Lys477Asn)
c.537A>T (p.Lys179Asn)
2g.39022826T>CCA425866645SOS1n.1482A>G
c.369A>G (p.Lys123=)
n.1823A>G
n.1609A>G
c.1491A>G (p.Lys497=)
c.1602A>G (p.Lys534=)
c.1695A>G (p.Lys565=)
c.1581A>G (p.Lys527=)
c.1578A>G (p.Lys526=)
c.1431A>G (p.Lys477=)
c.537A>G (p.Lys179=)
2g.39022826T>GCA346365795SOS1n.1482A>C
c.369A>C (p.Lys123Asn)
n.1823A>C
n.1609A>C
c.1491A>C (p.Lys497Asn)
c.1602A>C (p.Lys534Asn)
c.1695A>C (p.Lys565Asn)
c.1581A>C (p.Lys527Asn)
c.1578A>C (p.Lys526Asn)
c.1431A>C (p.Lys477Asn)
c.537A>C (p.Lys179Asn)
2g.39022827T>ACA346365796SOS1n.1481A>T
c.368A>T (p.Lys123Ile)
n.1822A>T
n.1608A>T
c.1490A>T (p.Lys497Ile)
c.1601A>T (p.Lys534Ile)
c.1694A>T (p.Lys565Ile)
c.1580A>T (p.Lys527Ile)
c.1577A>T (p.Lys526Ile)
c.1430A>T (p.Lys477Ile)
c.536A>T (p.Lys179Ile)
2g.39022827T>CCA346365797SOS1n.1481A>G
c.368A>G (p.Lys123Arg)
n.1822A>G
n.1608A>G
c.1490A>G (p.Lys497Arg)
c.1601A>G (p.Lys534Arg)
c.1694A>G (p.Lys565Arg)
c.1580A>G (p.Lys527Arg)
c.1577A>G (p.Lys526Arg)
c.1430A>G (p.Lys477Arg)
c.536A>G (p.Lys179Arg)
2g.39022827T>GCA346365798SOS1n.1481A>C
c.368A>C (p.Lys123Thr)
n.1822A>C
n.1608A>C
c.1490A>C (p.Lys497Thr)
c.1601A>C (p.Lys534Thr)
c.1694A>C (p.Lys565Thr)
c.1580A>C (p.Lys527Thr)
c.1577A>C (p.Lys526Thr)
c.1430A>C (p.Lys477Thr)
c.536A>C (p.Lys179Thr)
2g.39022828T>ACA346365799SOS1n.1480A>T
c.367A>T (p.Lys123Ter)
n.1821A>T
n.1607A>T
c.1489A>T (p.Lys497Ter)
c.1600A>T (p.Lys534Ter)
c.1693A>T (p.Lys565Ter)
c.1579A>T (p.Lys527Ter)
c.1576A>T (p.Lys526Ter)
c.1429A>T (p.Lys477Ter)
c.535A>T (p.Lys179Ter)
2g.39022828T>CCA346365800SOS1n.1480A>G
c.367A>G (p.Lys123Glu)
n.1821A>G
n.1607A>G
c.1489A>G (p.Lys497Glu)
c.1600A>G (p.Lys534Glu)
c.1693A>G (p.Lys565Glu)
c.1579A>G (p.Lys527Glu)
c.1576A>G (p.Lys526Glu)
c.1429A>G (p.Lys477Glu)
c.535A>G (p.Lys179Glu)
ClinVar dbSNP
2g.39022828T>GCA346365801SOS1n.1480A>C
c.367A>C (p.Lys123Gln)
n.1821A>C
n.1607A>C
c.1489A>C (p.Lys497Gln)
c.1600A>C (p.Lys534Gln)
c.1693A>C (p.Lys565Gln)
c.1579A>C (p.Lys527Gln)
c.1576A>C (p.Lys526Gln)
c.1429A>C (p.Lys477Gln)
c.535A>C (p.Lys179Gln)
2g.39022828T=CA1246139624SOS1n.1480A=
c.367A= (p.Lys123=)
n.1821A=
n.1607A=
c.1489A= (p.Lys497=)
c.1600A= (p.Lys534=)
c.1693A= (p.Lys565=)
c.1579A= (p.Lys527=)
c.1576A= (p.Lys526=)
c.1429A= (p.Lys477=)
c.535A= (p.Lys179=)
2g.39022829C>ACA346365802SOS1n.1479G>T
c.366G>T (p.Glu122Asp)
n.1820G>T
n.1606G>T
c.1488G>T (p.Glu496Asp)
c.1599G>T (p.Glu533Asp)
c.1692G>T (p.Glu564Asp)
c.1578G>T (p.Glu526Asp)
c.1575G>T (p.Glu525Asp)
c.1428G>T (p.Glu476Asp)
c.534G>T (p.Glu178Asp)
2g.39022829C>GCA346365803SOS1n.1479G>C
c.366G>C (p.Glu122Asp)
n.1820G>C
n.1606G>C
c.1488G>C (p.Glu496Asp)
c.1599G>C (p.Glu533Asp)
c.1692G>C (p.Glu564Asp)
c.1578G>C (p.Glu526Asp)
c.1575G>C (p.Glu525Asp)
c.1428G>C (p.Glu476Asp)
c.534G>C (p.Glu178Asp)
2g.39022829C>TCA425866647SOS1n.1479G>A
c.366G>A (p.Glu122=)
n.1820G>A
n.1606G>A
c.1488G>A (p.Glu496=)
c.1599G>A (p.Glu533=)
c.1692G>A (p.Glu564=)
c.1578G>A (p.Glu526=)
c.1575G>A (p.Glu525=)
c.1428G>A (p.Glu476=)
c.534G>A (p.Glu178=)
gnomAD v4
2g.39022830T>ACA346365804SOS1n.1478A>T
c.365A>T (p.Glu122Val)
n.1819A>T
n.1605A>T
c.1487A>T (p.Glu496Val)
c.1598A>T (p.Glu533Val)
c.1691A>T (p.Glu564Val)
c.1577A>T (p.Glu526Val)
c.1574A>T (p.Glu525Val)
c.1427A>T (p.Glu476Val)
c.533A>T (p.Glu178Val)
2g.39022830T>CCA346365805SOS1n.1478A>G
c.365A>G (p.Glu122Gly)
n.1819A>G
n.1605A>G
c.1487A>G (p.Glu496Gly)
c.1598A>G (p.Glu533Gly)
c.1691A>G (p.Glu564Gly)
c.1577A>G (p.Glu526Gly)
c.1574A>G (p.Glu525Gly)
c.1427A>G (p.Glu476Gly)
c.533A>G (p.Glu178Gly)
2g.39022830T>GCA346365806SOS1n.1478A>C
c.365A>C (p.Glu122Ala)
n.1819A>C
n.1605A>C
c.1487A>C (p.Glu496Ala)
c.1598A>C (p.Glu533Ala)
c.1691A>C (p.Glu564Ala)
c.1577A>C (p.Glu526Ala)
c.1574A>C (p.Glu525Ala)
c.1427A>C (p.Glu476Ala)
c.533A>C (p.Glu178Ala)
2g.39022831C>ACA346365807SOS1n.1477G>T
c.364G>T (p.Glu122Ter)
n.1818G>T
n.1604G>T
c.1486G>T (p.Glu496Ter)
c.1597G>T (p.Glu533Ter)
c.1690G>T (p.Glu564Ter)
c.1576G>T (p.Glu526Ter)
c.1573G>T (p.Glu525Ter)
c.1426G>T (p.Glu476Ter)
c.532G>T (p.Glu178Ter)
2g.39022831C=CA1246139626SOS1n.1477G=
c.364G= (p.Glu122=)
n.1818G=
n.1604G=
c.1486G= (p.Glu496=)
c.1597G= (p.Glu533=)
c.1690G= (p.Glu564=)
c.1576G= (p.Glu526=)
c.1573G= (p.Glu525=)
c.1426G= (p.Glu476=)
c.532G= (p.Glu178=)
2g.39022831C>GCA346365808SOS1n.1477G>C
c.364G>C (p.Glu122Gln)
n.1818G>C
n.1604G>C
c.1486G>C (p.Glu496Gln)
c.1597G>C (p.Glu533Gln)
c.1690G>C (p.Glu564Gln)
c.1576G>C (p.Glu526Gln)
c.1573G>C (p.Glu525Gln)
c.1426G>C (p.Glu476Gln)
c.532G>C (p.Glu178Gln)
2g.39022831C>TCA45674592SOS1n.1477G>A
c.364G>A (p.Glu122Lys)
n.1818G>A
n.1604G>A
c.1486G>A (p.Glu496Lys)
c.1597G>A (p.Glu533Lys)
c.1690G>A (p.Glu564Lys)
c.1576G>A (p.Glu526Lys)
c.1573G>A (p.Glu525Lys)
c.1426G>A (p.Glu476Lys)
c.532G>A (p.Glu178Lys)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39022832T>ACA346365809SOS1n.1476A>T
c.363A>T (p.Glu121Asp)
n.1817A>T
n.1603A>T
c.1485A>T (p.Glu495Asp)
c.1596A>T (p.Glu532Asp)
c.1689A>T (p.Glu563Asp)
c.1575A>T (p.Glu525Asp)
c.1572A>T (p.Glu524Asp)
c.1425A>T (p.Glu475Asp)
c.531A>T (p.Glu177Asp)
2g.39022832T>CCA425866649SOS1n.1476A>G
c.363A>G (p.Glu121=)
n.1817A>G
n.1603A>G
c.1485A>G (p.Glu495=)
c.1596A>G (p.Glu532=)
c.1689A>G (p.Glu563=)
c.1575A>G (p.Glu525=)
c.1572A>G (p.Glu524=)
c.1425A>G (p.Glu475=)
c.531A>G (p.Glu177=)
ClinVar
2g.39022832T>GCA346365810SOS1n.1476A>C
c.363A>C (p.Glu121Asp)
n.1817A>C
n.1603A>C
c.1485A>C (p.Glu495Asp)
c.1596A>C (p.Glu532Asp)
c.1689A>C (p.Glu563Asp)
c.1575A>C (p.Glu525Asp)
c.1572A>C (p.Glu524Asp)
c.1425A>C (p.Glu475Asp)
c.531A>C (p.Glu177Asp)
2g.39022833T>ACA346365811SOS1n.1475A>T
c.362A>T (p.Glu121Val)
n.1816A>T
n.1602A>T
c.1484A>T (p.Glu495Val)
c.1595A>T (p.Glu532Val)
c.1688A>T (p.Glu563Val)
c.1574A>T (p.Glu525Val)
c.1571A>T (p.Glu524Val)
c.1424A>T (p.Glu475Val)
c.530A>T (p.Glu177Val)
2g.39022833T>CCA346365812SOS1n.1475A>G
c.362A>G (p.Glu121Gly)
n.1816A>G
n.1602A>G
c.1484A>G (p.Glu495Gly)
c.1595A>G (p.Glu532Gly)
c.1688A>G (p.Glu563Gly)
c.1574A>G (p.Glu525Gly)
c.1571A>G (p.Glu524Gly)
c.1424A>G (p.Glu475Gly)
c.530A>G (p.Glu177Gly)
2g.39022833T>GCA346365813SOS1n.1475A>C
c.362A>C (p.Glu121Ala)
n.1816A>C
n.1602A>C
c.1484A>C (p.Glu495Ala)
c.1595A>C (p.Glu532Ala)
c.1688A>C (p.Glu563Ala)
c.1574A>C (p.Glu525Ala)
c.1571A>C (p.Glu524Ala)
c.1424A>C (p.Glu475Ala)
c.530A>C (p.Glu177Ala)
2g.39022834C>ACA346365814SOS1n.1474G>T
c.361G>T (p.Glu121Ter)
n.1815G>T
n.1601G>T
c.1483G>T (p.Glu495Ter)
c.1594G>T (p.Glu532Ter)
c.1687G>T (p.Glu563Ter)
c.1573G>T (p.Glu525Ter)
c.1570G>T (p.Glu524Ter)
c.1423G>T (p.Glu475Ter)
c.529G>T (p.Glu177Ter)
2g.39022834C>GCA346365815SOS1n.1474G>C
c.361G>C (p.Glu121Gln)
n.1815G>C
n.1601G>C
c.1483G>C (p.Glu495Gln)
c.1594G>C (p.Glu532Gln)
c.1687G>C (p.Glu563Gln)
c.1573G>C (p.Glu525Gln)
c.1570G>C (p.Glu524Gln)
c.1423G>C (p.Glu475Gln)
c.529G>C (p.Glu177Gln)
2g.39022834C>TCA346365816SOS1n.1474G>A
c.361G>A (p.Glu121Lys)
n.1815G>A
n.1601G>A
c.1483G>A (p.Glu495Lys)
c.1594G>A (p.Glu532Lys)
c.1687G>A (p.Glu563Lys)
c.1573G>A (p.Glu525Lys)
c.1570G>A (p.Glu524Lys)
c.1423G>A (p.Glu475Lys)
c.529G>A (p.Glu177Lys)
ClinVar gnomAD v4
2g.39022835A>CCA425866651SOS1n.1473T>G
c.360T>G (p.Ala120=)
n.1814T>G
n.1600T>G
c.1482T>G (p.Ala494=)
c.1593T>G (p.Ala531=)
c.1686T>G (p.Ala562=)
c.1572T>G (p.Ala524=)
c.1569T>G (p.Ala523=)
c.1422T>G (p.Ala474=)
c.528T>G (p.Ala176=)
2g.39022835A>GCA425866653SOS1n.1473T>C
c.360T>C (p.Ala120=)
n.1814T>C
n.1600T>C
c.1482T>C (p.Ala494=)
c.1593T>C (p.Ala531=)
c.1686T>C (p.Ala562=)
c.1572T>C (p.Ala524=)
c.1569T>C (p.Ala523=)
c.1422T>C (p.Ala474=)
c.528T>C (p.Ala176=)
2g.39022835A>TCA425866652SOS1n.1473T>A
c.360T>A (p.Ala120=)
n.1814T>A
n.1600T>A
c.1482T>A (p.Ala494=)
c.1593T>A (p.Ala531=)
c.1686T>A (p.Ala562=)
c.1572T>A (p.Ala524=)
c.1569T>A (p.Ala523=)
c.1422T>A (p.Ala474=)
c.528T>A (p.Ala176=)
2g.39022836G>ACA346365819SOS1n.1472C>T
c.359C>T (p.Ala120Val)
n.1813C>T
n.1599C>T
c.1481C>T (p.Ala494Val)
c.1592C>T (p.Ala531Val)
c.1685C>T (p.Ala562Val)
c.1571C>T (p.Ala524Val)
c.1568C>T (p.Ala523Val)
c.1421C>T (p.Ala474Val)
c.527C>T (p.Ala176Val)
2g.39022836G>CCA346365818SOS1n.1472C>G
c.359C>G (p.Ala120Gly)
n.1813C>G
n.1599C>G
c.1481C>G (p.Ala494Gly)
c.1592C>G (p.Ala531Gly)
c.1685C>G (p.Ala562Gly)
c.1571C>G (p.Ala524Gly)
c.1568C>G (p.Ala523Gly)
c.1421C>G (p.Ala474Gly)
c.527C>G (p.Ala176Gly)
2g.39022836G>TCA346365817SOS1n.1472C>A
c.359C>A (p.Ala120Asp)
n.1813C>A
n.1599C>A
c.1481C>A (p.Ala494Asp)
c.1592C>A (p.Ala531Asp)
c.1685C>A (p.Ala562Asp)
c.1571C>A (p.Ala524Asp)
c.1568C>A (p.Ala523Asp)
c.1421C>A (p.Ala474Asp)
c.527C>A (p.Ala176Asp)
2g.39022837C>ACA346365820SOS1n.1471G>T
c.358G>T (p.Ala120Ser)
n.1812G>T
n.1598G>T
c.1480G>T (p.Ala494Ser)
c.1591G>T (p.Ala531Ser)
c.1684G>T (p.Ala562Ser)
c.1570G>T (p.Ala524Ser)
c.1567G>T (p.Ala523Ser)
c.1420G>T (p.Ala474Ser)
c.526G>T (p.Ala176Ser)
2g.39022837C>GCA346365821SOS1n.1471G>C
c.358G>C (p.Ala120Pro)
n.1812G>C
n.1598G>C
c.1480G>C (p.Ala494Pro)
c.1591G>C (p.Ala531Pro)
c.1684G>C (p.Ala562Pro)
c.1570G>C (p.Ala524Pro)
c.1567G>C (p.Ala523Pro)
c.1420G>C (p.Ala474Pro)
c.526G>C (p.Ala176Pro)
2g.39022837C>TCA346365822SOS1n.1471G>A
c.358G>A (p.Ala120Thr)
n.1812G>A
n.1598G>A
c.1480G>A (p.Ala494Thr)
c.1591G>A (p.Ala531Thr)
c.1684G>A (p.Ala562Thr)
c.1570G>A (p.Ala524Thr)
c.1567G>A (p.Ala523Thr)
c.1420G>A (p.Ala474Thr)
c.526G>A (p.Ala176Thr)
gnomAD v4

Number of alleles fetched