Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.39022583G>ACA425866634SOS1n.1725C>T
c.612C>T (p.Tyr204=)
n.2066C>T
n.1852C>T
c.1734C>T (p.Tyr578=)
c.1845C>T (p.Tyr615=)
c.1938C>T (p.Tyr646=)
c.1824C>T (p.Tyr608=)
c.1821C>T (p.Tyr607=)
c.1674C>T (p.Tyr558=)
c.780C>T (p.Tyr260=)
2g.39022583G>CCA346365262SOS1n.1725C>G
c.612C>G (p.Tyr204Ter)
n.2066C>G
n.1852C>G
c.1734C>G (p.Tyr578Ter)
c.1845C>G (p.Tyr615Ter)
c.1938C>G (p.Tyr646Ter)
c.1824C>G (p.Tyr608Ter)
c.1821C>G (p.Tyr607Ter)
c.1674C>G (p.Tyr558Ter)
c.780C>G (p.Tyr260Ter)
2g.39022583G>TCA346365263SOS1n.1725C>A
c.612C>A (p.Tyr204Ter)
n.2066C>A
n.1852C>A
c.1734C>A (p.Tyr578Ter)
c.1845C>A (p.Tyr615Ter)
c.1938C>A (p.Tyr646Ter)
c.1824C>A (p.Tyr608Ter)
c.1821C>A (p.Tyr607Ter)
c.1674C>A (p.Tyr558Ter)
c.780C>A (p.Tyr260Ter)
2g.39022584T>ACA346365266SOS1n.1724A>T
c.611A>T (p.Tyr204Phe)
n.2065A>T
n.1851A>T
c.1733A>T (p.Tyr578Phe)
c.1844A>T (p.Tyr615Phe)
c.1937A>T (p.Tyr646Phe)
c.1823A>T (p.Tyr608Phe)
c.1820A>T (p.Tyr607Phe)
c.1673A>T (p.Tyr558Phe)
c.779A>T (p.Tyr260Phe)
2g.39022584T>CCA346365264SOS1n.1724A>G
c.611A>G (p.Tyr204Cys)
n.2065A>G
n.1851A>G
c.1733A>G (p.Tyr578Cys)
c.1844A>G (p.Tyr615Cys)
c.1937A>G (p.Tyr646Cys)
c.1823A>G (p.Tyr608Cys)
c.1820A>G (p.Tyr607Cys)
c.1673A>G (p.Tyr558Cys)
c.779A>G (p.Tyr260Cys)
gnomAD v4
2g.39022584T>GCA346365265SOS1n.1724A>C
c.611A>C (p.Tyr204Ser)
n.2065A>C
n.1851A>C
c.1733A>C (p.Tyr578Ser)
c.1844A>C (p.Tyr615Ser)
c.1937A>C (p.Tyr646Ser)
c.1823A>C (p.Tyr608Ser)
c.1820A>C (p.Tyr607Ser)
c.1673A>C (p.Tyr558Ser)
c.779A>C (p.Tyr260Ser)
2g.39022585A>CCA346365267SOS1n.1723T>G
c.610T>G (p.Tyr204Asp)
n.2064T>G
n.1850T>G
c.1732T>G (p.Tyr578Asp)
c.1843T>G (p.Tyr615Asp)
c.1936T>G (p.Tyr646Asp)
c.1822T>G (p.Tyr608Asp)
c.1819T>G (p.Tyr607Asp)
c.1672T>G (p.Tyr558Asp)
c.778T>G (p.Tyr260Asp)
2g.39022585A>GCA346365268SOS1n.1723T>C
c.610T>C (p.Tyr204His)
n.2064T>C
n.1850T>C
c.1732T>C (p.Tyr578His)
c.1843T>C (p.Tyr615His)
c.1936T>C (p.Tyr646His)
c.1822T>C (p.Tyr608His)
c.1819T>C (p.Tyr607His)
c.1672T>C (p.Tyr558His)
c.778T>C (p.Tyr260His)
2g.39022585A>TCA346365269SOS1n.1723T>A
c.610T>A (p.Tyr204Asn)
n.2064T>A
n.1850T>A
c.1732T>A (p.Tyr578Asn)
c.1843T>A (p.Tyr615Asn)
c.1936T>A (p.Tyr646Asn)
c.1822T>A (p.Tyr608Asn)
c.1819T>A (p.Tyr607Asn)
c.1672T>A (p.Tyr558Asn)
c.778T>A (p.Tyr260Asn)
2g.39022586C>ACA425866638SOS1n.1722G>T
c.609G>T (p.Thr203=)
n.2063G>T
n.1849G>T
c.1731G>T (p.Thr577=)
c.1842G>T (p.Thr614=)
c.1935G>T (p.Thr645=)
c.1821G>T (p.Thr607=)
c.1818G>T (p.Thr606=)
c.1671G>T (p.Thr557=)
c.777G>T (p.Thr259=)
2g.39022586C=CA1246139173SOS1n.1722G=
c.609G= (p.Thr203=)
n.2063G=
n.1849G=
c.1731G= (p.Thr577=)
c.1842G= (p.Thr614=)
c.1935G= (p.Thr645=)
c.1821G= (p.Thr607=)
c.1818G= (p.Thr606=)
c.1671G= (p.Thr557=)
c.777G= (p.Thr259=)
2g.39022586C>GCA425866639SOS1n.1722G>C
c.609G>C (p.Thr203=)
n.2063G>C
n.1849G>C
c.1731G>C (p.Thr577=)
c.1842G>C (p.Thr614=)
c.1935G>C (p.Thr645=)
c.1821G>C (p.Thr607=)
c.1818G>C (p.Thr606=)
c.1671G>C (p.Thr557=)
c.777G>C (p.Thr259=)
ClinVar dbSNP
2g.39022586C>TCA1624542SOS1n.1722G>A
c.609G>A (p.Thr203=)
n.2063G>A
n.1849G>A
c.1731G>A (p.Thr577=)
c.1842G>A (p.Thr614=)
c.1935G>A (p.Thr645=)
c.1821G>A (p.Thr607=)
c.1818G>A (p.Thr606=)
c.1671G>A (p.Thr557=)
c.777G>A (p.Thr259=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022587G>ACA346365270SOS1n.1721C>T
c.608C>T (p.Thr203Met)
n.2062C>T
n.1848C>T
c.1730C>T (p.Thr577Met)
c.1841C>T (p.Thr614Met)
c.1934C>T (p.Thr645Met)
c.1820C>T (p.Thr607Met)
c.1817C>T (p.Thr606Met)
c.1670C>T (p.Thr557Met)
c.776C>T (p.Thr259Met)
COSMIC
2g.39022587G>CCA346365271SOS1n.1721C>G
c.608C>G (p.Thr203Arg)
n.2062C>G
n.1848C>G
c.1730C>G (p.Thr577Arg)
c.1841C>G (p.Thr614Arg)
c.1934C>G (p.Thr645Arg)
c.1820C>G (p.Thr607Arg)
c.1817C>G (p.Thr606Arg)
c.1670C>G (p.Thr557Arg)
c.776C>G (p.Thr259Arg)
2g.39022587G>TCA346365272SOS1n.1721C>A
c.608C>A (p.Thr203Lys)
n.2062C>A
n.1848C>A
c.1730C>A (p.Thr577Lys)
c.1841C>A (p.Thr614Lys)
c.1934C>A (p.Thr645Lys)
c.1820C>A (p.Thr607Lys)
c.1817C>A (p.Thr606Lys)
c.1670C>A (p.Thr557Lys)
c.776C>A (p.Thr259Lys)
2g.39022588T>ACA346365273SOS1n.1720A>T
c.607A>T (p.Thr203Ser)
n.2061A>T
n.1847A>T
c.1729A>T (p.Thr577Ser)
c.1840A>T (p.Thr614Ser)
c.1933A>T (p.Thr645Ser)
c.1819A>T (p.Thr607Ser)
c.1816A>T (p.Thr606Ser)
c.1669A>T (p.Thr557Ser)
c.775A>T (p.Thr259Ser)
2g.39022588T>CCA346365274SOS1n.1720A>G
c.607A>G (p.Thr203Ala)
n.2061A>G
n.1847A>G
c.1729A>G (p.Thr577Ala)
c.1840A>G (p.Thr614Ala)
c.1933A>G (p.Thr645Ala)
c.1819A>G (p.Thr607Ala)
c.1816A>G (p.Thr606Ala)
c.1669A>G (p.Thr557Ala)
c.775A>G (p.Thr259Ala)
2g.39022588T>GCA346365275SOS1n.1720A>C
c.607A>C (p.Thr203Pro)
n.2061A>C
n.1847A>C
c.1729A>C (p.Thr577Pro)
c.1840A>C (p.Thr614Pro)
c.1933A>C (p.Thr645Pro)
c.1819A>C (p.Thr607Pro)
c.1816A>C (p.Thr606Pro)
c.1669A>C (p.Thr557Pro)
c.775A>C (p.Thr259Pro)
2g.39022589A>CCA425866640SOS1n.1719T>G
c.606T>G (p.Leu202=)
n.2060T>G
n.1846T>G
c.1728T>G (p.Leu576=)
c.1839T>G (p.Leu613=)
c.1932T>G (p.Leu644=)
c.1818T>G (p.Leu606=)
c.1815T>G (p.Leu605=)
c.1668T>G (p.Leu556=)
c.774T>G (p.Leu258=)
2g.39022589A>GCA425866641SOS1n.1719T>C
c.606T>C (p.Leu202=)
n.2060T>C
n.1846T>C
c.1728T>C (p.Leu576=)
c.1839T>C (p.Leu613=)
c.1932T>C (p.Leu644=)
c.1818T>C (p.Leu606=)
c.1815T>C (p.Leu605=)
c.1668T>C (p.Leu556=)
c.774T>C (p.Leu258=)
2g.39022589A>TCA425866642SOS1n.1719T>A
c.606T>A (p.Leu202=)
n.2060T>A
n.1846T>A
c.1728T>A (p.Leu576=)
c.1839T>A (p.Leu613=)
c.1932T>A (p.Leu644=)
c.1818T>A (p.Leu606=)
c.1815T>A (p.Leu605=)
c.1668T>A (p.Leu556=)
c.774T>A (p.Leu258=)
2g.39022590A>CCA346365276SOS1n.1718T>G
c.605T>G (p.Leu202Arg)
n.2059T>G
n.1845T>G
c.1727T>G (p.Leu576Arg)
c.1838T>G (p.Leu613Arg)
c.1931T>G (p.Leu644Arg)
c.1817T>G (p.Leu606Arg)
c.1814T>G (p.Leu605Arg)
c.1667T>G (p.Leu556Arg)
c.773T>G (p.Leu258Arg)
2g.39022590A>GCA346365277SOS1n.1718T>C
c.605T>C (p.Leu202Pro)
n.2059T>C
n.1845T>C
c.1727T>C (p.Leu576Pro)
c.1838T>C (p.Leu613Pro)
c.1931T>C (p.Leu644Pro)
c.1817T>C (p.Leu606Pro)
c.1814T>C (p.Leu605Pro)
c.1667T>C (p.Leu556Pro)
c.773T>C (p.Leu258Pro)
2g.39022590A>TCA346365278SOS1n.1718T>A
c.605T>A (p.Leu202His)
n.2059T>A
n.1845T>A
c.1727T>A (p.Leu576His)
c.1838T>A (p.Leu613His)
c.1931T>A (p.Leu644His)
c.1817T>A (p.Leu606His)
c.1814T>A (p.Leu605His)
c.1667T>A (p.Leu556His)
c.773T>A (p.Leu258His)
2g.39022591G>ACA346365281SOS1n.1717C>T
c.604C>T (p.Leu202Phe)
n.2058C>T
n.1844C>T
c.1726C>T (p.Leu576Phe)
c.1837C>T (p.Leu613Phe)
c.1930C>T (p.Leu644Phe)
c.1816C>T (p.Leu606Phe)
c.1813C>T (p.Leu605Phe)
c.1666C>T (p.Leu556Phe)
c.772C>T (p.Leu258Phe)
2g.39022591G>CCA346365279SOS1n.1717C>G
c.604C>G (p.Leu202Val)
n.2058C>G
n.1844C>G
c.1726C>G (p.Leu576Val)
c.1837C>G (p.Leu613Val)
c.1930C>G (p.Leu644Val)
c.1816C>G (p.Leu606Val)
c.1813C>G (p.Leu605Val)
c.1666C>G (p.Leu556Val)
c.772C>G (p.Leu258Val)
2g.39022591G>TCA346365280SOS1n.1717C>A
c.604C>A (p.Leu202Ile)
n.2058C>A
n.1844C>A
c.1726C>A (p.Leu576Ile)
c.1837C>A (p.Leu613Ile)
c.1930C>A (p.Leu644Ile)
c.1816C>A (p.Leu606Ile)
c.1813C>A (p.Leu605Ile)
c.1666C>A (p.Leu556Ile)
c.772C>A (p.Leu258Ile)
2g.39022592C>ACA346365282SOS1n.1716G>T
c.603G>T (p.Arg201Ser)
n.2057G>T
n.1843G>T
c.1725G>T (p.Arg575Ser)
c.1836G>T (p.Arg612Ser)
c.1929G>T (p.Arg643Ser)
c.1815G>T (p.Arg605Ser)
c.1812G>T (p.Arg604Ser)
c.1665G>T (p.Arg555Ser)
c.771G>T (p.Arg257Ser)
2g.39022592C>GCA346365283SOS1n.1716G>C
c.603G>C (p.Arg201Ser)
n.2057G>C
n.1843G>C
c.1725G>C (p.Arg575Ser)
c.1836G>C (p.Arg612Ser)
c.1929G>C (p.Arg643Ser)
c.1815G>C (p.Arg605Ser)
c.1812G>C (p.Arg604Ser)
c.1665G>C (p.Arg555Ser)
c.771G>C (p.Arg257Ser)
2g.39022592C>TCA425866644SOS1n.1716G>A
c.603G>A (p.Arg201=)
n.2057G>A
n.1843G>A
c.1725G>A (p.Arg575=)
c.1836G>A (p.Arg612=)
c.1929G>A (p.Arg643=)
c.1815G>A (p.Arg605=)
c.1812G>A (p.Arg604=)
c.1665G>A (p.Arg555=)
c.771G>A (p.Arg257=)
2g.39022593C>ACA346365284SOS1n.1715G>T
c.602G>T (p.Arg201Met)
n.2056G>T
n.1842G>T
c.1724G>T (p.Arg575Met)
c.1835G>T (p.Arg612Met)
c.1928G>T (p.Arg643Met)
c.1814G>T (p.Arg605Met)
c.1811G>T (p.Arg604Met)
c.1664G>T (p.Arg555Met)
c.770G>T (p.Arg257Met)
2g.39022593C>GCA346365285SOS1n.1715G>C
c.602G>C (p.Arg201Thr)
n.2056G>C
n.1842G>C
c.1724G>C (p.Arg575Thr)
c.1835G>C (p.Arg612Thr)
c.1928G>C (p.Arg643Thr)
c.1814G>C (p.Arg605Thr)
c.1811G>C (p.Arg604Thr)
c.1664G>C (p.Arg555Thr)
c.770G>C (p.Arg257Thr)
2g.39022593C>TCA346365286SOS1n.1715G>A
c.602G>A (p.Arg201Lys)
n.2056G>A
n.1842G>A
c.1724G>A (p.Arg575Lys)
c.1835G>A (p.Arg612Lys)
c.1928G>A (p.Arg643Lys)
c.1814G>A (p.Arg605Lys)
c.1811G>A (p.Arg604Lys)
c.1664G>A (p.Arg555Lys)
c.770G>A (p.Arg257Lys)
gnomAD v4
2g.39022594T>ACA346365287SOS1n.1714A>T
c.601A>T (p.Arg201Trp)
n.2055A>T
n.1841A>T
c.1723A>T (p.Arg575Trp)
c.1834A>T (p.Arg612Trp)
c.1927A>T (p.Arg643Trp)
c.1813A>T (p.Arg605Trp)
c.1810A>T (p.Arg604Trp)
c.1663A>T (p.Arg555Trp)
c.769A>T (p.Arg257Trp)
2g.39022594T>CCA346365288SOS1n.1714A>G
c.601A>G (p.Arg201Gly)
n.2055A>G
n.1841A>G
c.1723A>G (p.Arg575Gly)
c.1834A>G (p.Arg612Gly)
c.1927A>G (p.Arg643Gly)
c.1813A>G (p.Arg605Gly)
c.1810A>G (p.Arg604Gly)
c.1663A>G (p.Arg555Gly)
c.769A>G (p.Arg257Gly)
2g.39022594T>GCA425866646SOS1n.1714A>C
c.601A>C (p.Arg201=)
n.2055A>C
n.1841A>C
c.1723A>C (p.Arg575=)
c.1834A>C (p.Arg612=)
c.1927A>C (p.Arg643=)
c.1813A>C (p.Arg605=)
c.1810A>C (p.Arg604=)
c.1663A>C (p.Arg555=)
c.769A>C (p.Arg257=)
2g.39022595C>ACA346365289SOS1n.1713G>T
c.600G>T (p.Glu200Asp)
n.2054G>T
n.1840G>T
c.1722G>T (p.Glu574Asp)
c.1833G>T (p.Glu611Asp)
c.1926G>T (p.Glu642Asp)
c.1812G>T (p.Glu604Asp)
c.1809G>T (p.Glu603Asp)
c.1662G>T (p.Glu554Asp)
c.768G>T (p.Glu256Asp)
2g.39022595C>GCA346365290SOS1n.1713G>C
c.600G>C (p.Glu200Asp)
n.2054G>C
n.1840G>C
c.1722G>C (p.Glu574Asp)
c.1833G>C (p.Glu611Asp)
c.1926G>C (p.Glu642Asp)
c.1812G>C (p.Glu604Asp)
c.1809G>C (p.Glu603Asp)
c.1662G>C (p.Glu554Asp)
c.768G>C (p.Glu256Asp)
2g.39022595C>TCA425866648SOS1n.1713G>A
c.600G>A (p.Glu200=)
n.2054G>A
n.1840G>A
c.1722G>A (p.Glu574=)
c.1833G>A (p.Glu611=)
c.1926G>A (p.Glu642=)
c.1812G>A (p.Glu604=)
c.1809G>A (p.Glu603=)
c.1662G>A (p.Glu554=)
c.768G>A (p.Glu256=)
2g.39022596T>ACA346365291SOS1n.1712A>T
c.599A>T (p.Glu200Val)
n.2053A>T
n.1839A>T
c.1721A>T (p.Glu574Val)
c.1832A>T (p.Glu611Val)
c.1925A>T (p.Glu642Val)
c.1811A>T (p.Glu604Val)
c.1808A>T (p.Glu603Val)
c.1661A>T (p.Glu554Val)
c.767A>T (p.Glu256Val)
2g.39022596T>CCA346365292SOS1n.1712A>G
c.599A>G (p.Glu200Gly)
n.2053A>G
n.1839A>G
c.1721A>G (p.Glu574Gly)
c.1832A>G (p.Glu611Gly)
c.1925A>G (p.Glu642Gly)
c.1811A>G (p.Glu604Gly)
c.1808A>G (p.Glu603Gly)
c.1661A>G (p.Glu554Gly)
c.767A>G (p.Glu256Gly)
gnomAD v4
2g.39022596T>GCA346365293SOS1n.1712A>C
c.599A>C (p.Glu200Ala)
n.2053A>C
n.1839A>C
c.1721A>C (p.Glu574Ala)
c.1832A>C (p.Glu611Ala)
c.1925A>C (p.Glu642Ala)
c.1811A>C (p.Glu604Ala)
c.1808A>C (p.Glu603Ala)
c.1661A>C (p.Glu554Ala)
c.767A>C (p.Glu256Ala)
2g.39022597C>ACA346365294SOS1n.1711G>T
c.598G>T (p.Glu200Ter)
n.2052G>T
n.1838G>T
c.1720G>T (p.Glu574Ter)
c.1831G>T (p.Glu611Ter)
c.1924G>T (p.Glu642Ter)
c.1810G>T (p.Glu604Ter)
c.1807G>T (p.Glu603Ter)
c.1660G>T (p.Glu554Ter)
c.766G>T (p.Glu256Ter)
2g.39022597C>GCA346365296SOS1n.1711G>C
c.598G>C (p.Glu200Gln)
n.2052G>C
n.1838G>C
c.1720G>C (p.Glu574Gln)
c.1831G>C (p.Glu611Gln)
c.1924G>C (p.Glu642Gln)
c.1810G>C (p.Glu604Gln)
c.1807G>C (p.Glu603Gln)
c.1660G>C (p.Glu554Gln)
c.766G>C (p.Glu256Gln)
2g.39022597C>TCA346365295SOS1n.1711G>A
c.598G>A (p.Glu200Lys)
n.2052G>A
n.1838G>A
c.1720G>A (p.Glu574Lys)
c.1831G>A (p.Glu611Lys)
c.1924G>A (p.Glu642Lys)
c.1810G>A (p.Glu604Lys)
c.1807G>A (p.Glu603Lys)
c.1660G>A (p.Glu554Lys)
c.766G>A (p.Glu256Lys)
2g.39022598delCA2576945396SOS1n.1710del
c.597del (p.Ile199MetfsTer?)
n.2051del
n.1837del
c.1719del (p.Ile573MetfsTer?)
c.1830del (p.Ile610MetfsTer?)
c.1923del (p.Ile641MetfsTer?)
c.1809del (p.Ile603MetfsTer?)
c.1806del (p.Ile602MetfsTer?)
c.1659del (p.Ile553MetfsTer?)
c.765del (p.Ile255MetfsTer?)
2g.39022598T>ACA1624543SOS1n.1710A>T
c.597A>T (p.Ile199=)
n.2051A>T
n.1837A>T
c.1719A>T (p.Ile573=)
c.1830A>T (p.Ile610=)
c.1923A>T (p.Ile641=)
c.1809A>T (p.Ile603=)
c.1806A>T (p.Ile602=)
c.1659A>T (p.Ile553=)
c.765A>T (p.Ile255=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022598T>CCA346365297SOS1n.1710A>G
c.597A>G (p.Ile199Met)
n.2051A>G
n.1837A>G
c.1719A>G (p.Ile573Met)
c.1830A>G (p.Ile610Met)
c.1923A>G (p.Ile641Met)
c.1809A>G (p.Ile603Met)
c.1806A>G (p.Ile602Met)
c.1659A>G (p.Ile553Met)
c.765A>G (p.Ile255Met)
2g.39022598T>GCA425866650SOS1n.1710A>C
c.597A>C (p.Ile199=)
n.2051A>C
n.1837A>C
c.1719A>C (p.Ile573=)
c.1830A>C (p.Ile610=)
c.1923A>C (p.Ile641=)
c.1809A>C (p.Ile603=)
c.1806A>C (p.Ile602=)
c.1659A>C (p.Ile553=)
c.765A>C (p.Ile255=)
2g.39022598T=CA1246139177SOS1n.1710A=
c.597A= (p.Ile199=)
n.2051A=
n.1837A=
c.1719A= (p.Ile573=)
c.1830A= (p.Ile610=)
c.1923A= (p.Ile641=)
c.1809A= (p.Ile603=)
c.1806A= (p.Ile602=)
c.1659A= (p.Ile553=)
c.765A= (p.Ile255=)
2g.39022599A=CA1246139186SOS1n.1709T=
c.596T= (p.Ile199=)
n.2050T=
n.1836T=
c.1718T= (p.Ile573=)
c.1829T= (p.Ile610=)
c.1922T= (p.Ile641=)
c.1808T= (p.Ile603=)
c.1805T= (p.Ile602=)
c.1658T= (p.Ile553=)
c.764T= (p.Ile255=)
2g.39022599A>CCA346365298SOS1n.1709T>G
c.596T>G (p.Ile199Arg)
n.2050T>G
n.1836T>G
c.1718T>G (p.Ile573Arg)
c.1829T>G (p.Ile610Arg)
c.1922T>G (p.Ile641Arg)
c.1808T>G (p.Ile603Arg)
c.1805T>G (p.Ile602Arg)
c.1658T>G (p.Ile553Arg)
c.764T>G (p.Ile255Arg)
2g.39022599A>GCA1624544SOS1n.1709T>C
c.596T>C (p.Ile199Thr)
n.2050T>C
n.1836T>C
c.1718T>C (p.Ile573Thr)
c.1829T>C (p.Ile610Thr)
c.1922T>C (p.Ile641Thr)
c.1808T>C (p.Ile603Thr)
c.1805T>C (p.Ile602Thr)
c.1658T>C (p.Ile553Thr)
c.764T>C (p.Ile255Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022599A>TCA346365299SOS1n.1709T>A
c.596T>A (p.Ile199Lys)
n.2050T>A
n.1836T>A
c.1718T>A (p.Ile573Lys)
c.1829T>A (p.Ile610Lys)
c.1922T>A (p.Ile641Lys)
c.1808T>A (p.Ile603Lys)
c.1805T>A (p.Ile602Lys)
c.1658T>A (p.Ile553Lys)
c.764T>A (p.Ile255Lys)
2g.39022600T>ACA346365300SOS1n.1708A>T
c.595A>T (p.Ile199Leu)
n.2049A>T
n.1835A>T
c.1717A>T (p.Ile573Leu)
c.1828A>T (p.Ile610Leu)
c.1921A>T (p.Ile641Leu)
c.1807A>T (p.Ile603Leu)
c.1804A>T (p.Ile602Leu)
c.1657A>T (p.Ile553Leu)
c.763A>T (p.Ile255Leu)
2g.39022600T>CCA1624545SOS1n.1708A>G
c.595A>G (p.Ile199Val)
n.2049A>G
n.1835A>G
c.1717A>G (p.Ile573Val)
c.1828A>G (p.Ile610Val)
c.1921A>G (p.Ile641Val)
c.1807A>G (p.Ile603Val)
c.1804A>G (p.Ile602Val)
c.1657A>G (p.Ile553Val)
c.763A>G (p.Ile255Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022600T>GCA346365301SOS1n.1708A>C
c.595A>C (p.Ile199Leu)
n.2049A>C
n.1835A>C
c.1717A>C (p.Ile573Leu)
c.1828A>C (p.Ile610Leu)
c.1921A>C (p.Ile641Leu)
c.1807A>C (p.Ile603Leu)
c.1804A>C (p.Ile602Leu)
c.1657A>C (p.Ile553Leu)
c.763A>C (p.Ile255Leu)
2g.39022600T=CA1246139192SOS1n.1708A=
c.595A= (p.Ile199=)
n.2049A=
n.1835A=
c.1717A= (p.Ile573=)
c.1828A= (p.Ile610=)
c.1921A= (p.Ile641=)
c.1807A= (p.Ile603=)
c.1804A= (p.Ile602=)
c.1657A= (p.Ile553=)
c.763A= (p.Ile255=)
2g.39022601A>CCA425866659SOS1n.1707T>G
c.594T>G (p.Leu198=)
n.2048T>G
n.1834T>G
c.1716T>G (p.Leu572=)
c.1827T>G (p.Leu609=)
c.1920T>G (p.Leu640=)
c.1806T>G (p.Leu602=)
c.1803T>G (p.Leu601=)
c.1656T>G (p.Leu552=)
c.762T>G (p.Leu254=)
2g.39022601A>GCA425866655SOS1n.1707T>C
c.594T>C (p.Leu198=)
n.2048T>C
n.1834T>C
c.1716T>C (p.Leu572=)
c.1827T>C (p.Leu609=)
c.1920T>C (p.Leu640=)
c.1806T>C (p.Leu602=)
c.1803T>C (p.Leu601=)
c.1656T>C (p.Leu552=)
c.762T>C (p.Leu254=)
2g.39022601A>TCA425866657SOS1n.1707T>A
c.594T>A (p.Leu198=)
n.2048T>A
n.1834T>A
c.1716T>A (p.Leu572=)
c.1827T>A (p.Leu609=)
c.1920T>A (p.Leu640=)
c.1806T>A (p.Leu602=)
c.1803T>A (p.Leu601=)
c.1656T>A (p.Leu552=)
c.762T>A (p.Leu254=)
2g.39022602A>CCA346365302SOS1n.1706T>G
c.593T>G (p.Leu198Arg)
n.2047T>G
n.1833T>G
c.1715T>G (p.Leu572Arg)
c.1826T>G (p.Leu609Arg)
c.1919T>G (p.Leu640Arg)
c.1805T>G (p.Leu602Arg)
c.1802T>G (p.Leu601Arg)
c.1655T>G (p.Leu552Arg)
c.761T>G (p.Leu254Arg)
2g.39022602A>GCA346365303SOS1n.1706T>C
c.593T>C (p.Leu198Pro)
n.2047T>C
n.1833T>C
c.1715T>C (p.Leu572Pro)
c.1826T>C (p.Leu609Pro)
c.1919T>C (p.Leu640Pro)
c.1805T>C (p.Leu602Pro)
c.1802T>C (p.Leu601Pro)
c.1655T>C (p.Leu552Pro)
c.761T>C (p.Leu254Pro)
2g.39022602A>TCA346365304SOS1n.1706T>A
c.593T>A (p.Leu198His)
n.2047T>A
n.1833T>A
c.1715T>A (p.Leu572His)
c.1826T>A (p.Leu609His)
c.1919T>A (p.Leu640His)
c.1805T>A (p.Leu602His)
c.1802T>A (p.Leu601His)
c.1655T>A (p.Leu552His)
c.761T>A (p.Leu254His)
2g.39022603G>ACA45674330SOS1n.1705C>T
c.592C>T (p.Leu198Phe)
n.2046C>T
n.1832C>T
c.1714C>T (p.Leu572Phe)
c.1825C>T (p.Leu609Phe)
c.1918C>T (p.Leu640Phe)
c.1804C>T (p.Leu602Phe)
c.1801C>T (p.Leu601Phe)
c.1654C>T (p.Leu552Phe)
c.760C>T (p.Leu254Phe)
dbSNP
2g.39022603G>CCA346365305SOS1n.1705C>G
c.592C>G (p.Leu198Val)
n.2046C>G
n.1832C>G
c.1714C>G (p.Leu572Val)
c.1825C>G (p.Leu609Val)
c.1918C>G (p.Leu640Val)
c.1804C>G (p.Leu602Val)
c.1801C>G (p.Leu601Val)
c.1654C>G (p.Leu552Val)
c.760C>G (p.Leu254Val)
2g.39022603G=CA1246139196SOS1n.1705C=
c.592C= (p.Leu198=)
n.2046C=
n.1832C=
c.1714C= (p.Leu572=)
c.1825C= (p.Leu609=)
c.1918C= (p.Leu640=)
c.1804C= (p.Leu602=)
c.1801C= (p.Leu601=)
c.1654C= (p.Leu552=)
c.760C= (p.Leu254=)
2g.39022603G>TCA346365306SOS1n.1705C>A
c.592C>A (p.Leu198Ile)
n.2046C>A
n.1832C>A
c.1714C>A (p.Leu572Ile)
c.1825C>A (p.Leu609Ile)
c.1918C>A (p.Leu640Ile)
c.1804C>A (p.Leu602Ile)
c.1801C>A (p.Leu601Ile)
c.1654C>A (p.Leu552Ile)
c.760C>A (p.Leu254Ile)
2g.39022604T>ACA346365308SOS1n.1704A>T
c.591A>T (p.Lys197Asn)
n.2045A>T
n.1831A>T
c.1713A>T (p.Lys571Asn)
c.1824A>T (p.Lys608Asn)
c.1917A>T (p.Lys639Asn)
c.1803A>T (p.Lys601Asn)
c.1800A>T (p.Lys600Asn)
c.1653A>T (p.Lys551Asn)
c.759A>T (p.Lys253Asn)
2g.39022604T>CCA425866661SOS1n.1704A>G
c.591A>G (p.Lys197=)
n.2045A>G
n.1831A>G
c.1713A>G (p.Lys571=)
c.1824A>G (p.Lys608=)
c.1917A>G (p.Lys639=)
c.1803A>G (p.Lys601=)
c.1800A>G (p.Lys600=)
c.1653A>G (p.Lys551=)
c.759A>G (p.Lys253=)
2g.39022604T>GCA346365307SOS1n.1704A>C
c.591A>C (p.Lys197Asn)
n.2045A>C
n.1831A>C
c.1713A>C (p.Lys571Asn)
c.1824A>C (p.Lys608Asn)
c.1917A>C (p.Lys639Asn)
c.1803A>C (p.Lys601Asn)
c.1800A>C (p.Lys600Asn)
c.1653A>C (p.Lys551Asn)
c.759A>C (p.Lys253Asn)
2g.39022605T>ACA346365309SOS1n.1703A>T
c.590A>T (p.Lys197Ile)
n.2044A>T
n.1830A>T
c.1712A>T (p.Lys571Ile)
c.1823A>T (p.Lys608Ile)
c.1916A>T (p.Lys639Ile)
c.1802A>T (p.Lys601Ile)
c.1799A>T (p.Lys600Ile)
c.1652A>T (p.Lys551Ile)
c.758A>T (p.Lys253Ile)
2g.39022605T>CCA346365310SOS1n.1703A>G
c.590A>G (p.Lys197Arg)
n.2044A>G
n.1830A>G
c.1712A>G (p.Lys571Arg)
c.1823A>G (p.Lys608Arg)
c.1916A>G (p.Lys639Arg)
c.1802A>G (p.Lys601Arg)
c.1799A>G (p.Lys600Arg)
c.1652A>G (p.Lys551Arg)
c.758A>G (p.Lys253Arg)
2g.39022605T>GCA346365311SOS1n.1703A>C
c.590A>C (p.Lys197Thr)
n.2044A>C
n.1830A>C
c.1712A>C (p.Lys571Thr)
c.1823A>C (p.Lys608Thr)
c.1916A>C (p.Lys639Thr)
c.1802A>C (p.Lys601Thr)
c.1799A>C (p.Lys600Thr)
c.1652A>C (p.Lys551Thr)
c.758A>C (p.Lys253Thr)
2g.39022606T>ACA346365312SOS1n.1702A>T
c.589A>T (p.Lys197Ter)
n.2043A>T
n.1829A>T
c.1711A>T (p.Lys571Ter)
c.1822A>T (p.Lys608Ter)
c.1915A>T (p.Lys639Ter)
c.1801A>T (p.Lys601Ter)
c.1798A>T (p.Lys600Ter)
c.1651A>T (p.Lys551Ter)
c.757A>T (p.Lys253Ter)
2g.39022606T>CCA346365313SOS1n.1702A>G
c.589A>G (p.Lys197Glu)
n.2043A>G
n.1829A>G
c.1711A>G (p.Lys571Glu)
c.1822A>G (p.Lys608Glu)
c.1915A>G (p.Lys639Glu)
c.1801A>G (p.Lys601Glu)
c.1798A>G (p.Lys600Glu)
c.1651A>G (p.Lys551Glu)
c.757A>G (p.Lys253Glu)
2g.39022606T>GCA346365314SOS1n.1702A>C
c.589A>C (p.Lys197Gln)
n.2043A>C
n.1829A>C
c.1711A>C (p.Lys571Gln)
c.1822A>C (p.Lys608Gln)
c.1915A>C (p.Lys639Gln)
c.1801A>C (p.Lys601Gln)
c.1798A>C (p.Lys600Gln)
c.1651A>C (p.Lys551Gln)
c.757A>C (p.Lys253Gln)
2g.39022607A>CCA346365315SOS1n.1701T>G
c.588T>G (p.Ile196Met)
n.2042T>G
n.1828T>G
c.1710T>G (p.Ile570Met)
c.1821T>G (p.Ile607Met)
c.1914T>G (p.Ile638Met)
c.1800T>G (p.Ile600Met)
c.1797T>G (p.Ile599Met)
c.1650T>G (p.Ile550Met)
c.756T>G (p.Ile252Met)
2g.39022607A>GCA425866665SOS1n.1701T>C
c.588T>C (p.Ile196=)
n.2042T>C
n.1828T>C
c.1710T>C (p.Ile570=)
c.1821T>C (p.Ile607=)
c.1914T>C (p.Ile638=)
c.1800T>C (p.Ile600=)
c.1797T>C (p.Ile599=)
c.1650T>C (p.Ile550=)
c.756T>C (p.Ile252=)
2g.39022607A>TCA425866666SOS1n.1701T>A
c.588T>A (p.Ile196=)
n.2042T>A
n.1828T>A
c.1710T>A (p.Ile570=)
c.1821T>A (p.Ile607=)
c.1914T>A (p.Ile638=)
c.1800T>A (p.Ile600=)
c.1797T>A (p.Ile599=)
c.1650T>A (p.Ile550=)
c.756T>A (p.Ile252=)
2g.39022608A=CA1246139198SOS1n.1700T=
c.587T= (p.Ile196=)
n.2041T=
n.1827T=
c.1709T= (p.Ile570=)
c.1820T= (p.Ile607=)
c.1913T= (p.Ile638=)
c.1799T= (p.Ile600=)
c.1796T= (p.Ile599=)
c.1649T= (p.Ile550=)
c.755T= (p.Ile252=)
2g.39022608A>CCA346365316SOS1n.1700T>G
c.587T>G (p.Ile196Ser)
n.2041T>G
n.1827T>G
c.1709T>G (p.Ile570Ser)
c.1820T>G (p.Ile607Ser)
c.1913T>G (p.Ile638Ser)
c.1799T>G (p.Ile600Ser)
c.1796T>G (p.Ile599Ser)
c.1649T>G (p.Ile550Ser)
c.755T>G (p.Ile252Ser)
2g.39022608A>GCA1624546SOS1n.1700T>C
c.587T>C (p.Ile196Thr)
n.2041T>C
n.1827T>C
c.1709T>C (p.Ile570Thr)
c.1820T>C (p.Ile607Thr)
c.1913T>C (p.Ile638Thr)
c.1799T>C (p.Ile600Thr)
c.1796T>C (p.Ile599Thr)
c.1649T>C (p.Ile550Thr)
c.755T>C (p.Ile252Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022608A>TCA346365317SOS1n.1700T>A
c.587T>A (p.Ile196Asn)
n.2041T>A
n.1827T>A
c.1709T>A (p.Ile570Asn)
c.1820T>A (p.Ile607Asn)
c.1913T>A (p.Ile638Asn)
c.1799T>A (p.Ile600Asn)
c.1796T>A (p.Ile599Asn)
c.1649T>A (p.Ile550Asn)
c.755T>A (p.Ile252Asn)
2g.39022609T>ACA346365318SOS1n.1699A>T
c.586A>T (p.Ile196Phe)
n.2040A>T
n.1826A>T
c.1708A>T (p.Ile570Phe)
c.1819A>T (p.Ile607Phe)
c.1912A>T (p.Ile638Phe)
c.1798A>T (p.Ile600Phe)
c.1795A>T (p.Ile599Phe)
c.1648A>T (p.Ile550Phe)
c.754A>T (p.Ile252Phe)
2g.39022609T>CCA346365319SOS1n.1699A>G
c.586A>G (p.Ile196Val)
n.2040A>G
n.1826A>G
c.1708A>G (p.Ile570Val)
c.1819A>G (p.Ile607Val)
c.1912A>G (p.Ile638Val)
c.1798A>G (p.Ile600Val)
c.1795A>G (p.Ile599Val)
c.1648A>G (p.Ile550Val)
c.754A>G (p.Ile252Val)
gnomAD v4
2g.39022609T>GCA346365320SOS1n.1699A>C
c.586A>C (p.Ile196Leu)
n.2040A>C
n.1826A>C
c.1708A>C (p.Ile570Leu)
c.1819A>C (p.Ile607Leu)
c.1912A>C (p.Ile638Leu)
c.1798A>C (p.Ile600Leu)
c.1795A>C (p.Ile599Leu)
c.1648A>C (p.Ile550Leu)
c.754A>C (p.Ile252Leu)
2g.39022610A>CCA425866667SOS1n.1698T>G
c.585T>G (p.Val195=)
n.2039T>G
n.1825T>G
c.1707T>G (p.Val569=)
c.1818T>G (p.Val606=)
c.1911T>G (p.Val637=)
c.1797T>G (p.Val599=)
c.1794T>G (p.Val598=)
c.1647T>G (p.Val549=)
c.753T>G (p.Val251=)
2g.39022610A>GCA425866668SOS1n.1698T>C
c.585T>C (p.Val195=)
n.2039T>C
n.1825T>C
c.1707T>C (p.Val569=)
c.1818T>C (p.Val606=)
c.1911T>C (p.Val637=)
c.1797T>C (p.Val599=)
c.1794T>C (p.Val598=)
c.1647T>C (p.Val549=)
c.753T>C (p.Val251=)
2g.39022610A>TCA425866669SOS1n.1698T>A
c.585T>A (p.Val195=)
n.2039T>A
n.1825T>A
c.1707T>A (p.Val569=)
c.1818T>A (p.Val606=)
c.1911T>A (p.Val637=)
c.1797T>A (p.Val599=)
c.1794T>A (p.Val598=)
c.1647T>A (p.Val549=)
c.753T>A (p.Val251=)
2g.39022611A>CCA346365321SOS1n.1697T>G
c.584T>G (p.Val195Gly)
n.2038T>G
n.1824T>G
c.1706T>G (p.Val569Gly)
c.1817T>G (p.Val606Gly)
c.1910T>G (p.Val637Gly)
c.1796T>G (p.Val599Gly)
c.1793T>G (p.Val598Gly)
c.1646T>G (p.Val549Gly)
c.752T>G (p.Val251Gly)
2g.39022611A>GCA346365323SOS1n.1697T>C
c.584T>C (p.Val195Ala)
n.2038T>C
n.1824T>C
c.1706T>C (p.Val569Ala)
c.1817T>C (p.Val606Ala)
c.1910T>C (p.Val637Ala)
c.1796T>C (p.Val599Ala)
c.1793T>C (p.Val598Ala)
c.1646T>C (p.Val549Ala)
c.752T>C (p.Val251Ala)
2g.39022611A>TCA346365322SOS1n.1697T>A
c.584T>A (p.Val195Asp)
n.2038T>A
n.1824T>A
c.1706T>A (p.Val569Asp)
c.1817T>A (p.Val606Asp)
c.1910T>A (p.Val637Asp)
c.1796T>A (p.Val599Asp)
c.1793T>A (p.Val598Asp)
c.1646T>A (p.Val549Asp)
c.752T>A (p.Val251Asp)
2g.39022612C>ACA346365324SOS1n.1696G>T
c.583G>T (p.Val195Phe)
n.2037G>T
n.1823G>T
c.1705G>T (p.Val569Phe)
c.1816G>T (p.Val606Phe)
c.1909G>T (p.Val637Phe)
c.1795G>T (p.Val599Phe)
c.1792G>T (p.Val598Phe)
c.1645G>T (p.Val549Phe)
c.751G>T (p.Val251Phe)
2g.39022612C>GCA346365325SOS1n.1696G>C
c.583G>C (p.Val195Leu)
n.2037G>C
n.1823G>C
c.1705G>C (p.Val569Leu)
c.1816G>C (p.Val606Leu)
c.1909G>C (p.Val637Leu)
c.1795G>C (p.Val599Leu)
c.1792G>C (p.Val598Leu)
c.1645G>C (p.Val549Leu)
c.751G>C (p.Val251Leu)
2g.39022612C>TCA346365326SOS1n.1696G>A
c.583G>A (p.Val195Ile)
n.2037G>A
n.1823G>A
c.1705G>A (p.Val569Ile)
c.1816G>A (p.Val606Ile)
c.1909G>A (p.Val637Ile)
c.1795G>A (p.Val599Ile)
c.1792G>A (p.Val598Ile)
c.1645G>A (p.Val549Ile)
c.751G>A (p.Val251Ile)
2g.39022613A=CA1246139205SOS1n.1695T=
c.582T= (p.Thr194=)
n.2036T=
n.1822T=
c.1704T= (p.Thr568=)
c.1815T= (p.Thr605=)
c.1908T= (p.Thr636=)
c.1794T= (p.Thr598=)
c.1791T= (p.Thr597=)
c.1644T= (p.Thr548=)
c.750T= (p.Thr250=)
2g.39022613A>CCA425866673SOS1n.1695T>G
c.582T>G (p.Thr194=)
n.2036T>G
n.1822T>G
c.1704T>G (p.Thr568=)
c.1815T>G (p.Thr605=)
c.1908T>G (p.Thr636=)
c.1794T>G (p.Thr598=)
c.1791T>G (p.Thr597=)
c.1644T>G (p.Thr548=)
c.750T>G (p.Thr250=)
dbSNP gnomAD v4
2g.39022613A>GCA1624547SOS1n.1695T>C
c.582T>C (p.Thr194=)
n.2036T>C
n.1822T>C
c.1704T>C (p.Thr568=)
c.1815T>C (p.Thr605=)
c.1908T>C (p.Thr636=)
c.1794T>C (p.Thr598=)
c.1791T>C (p.Thr597=)
c.1644T>C (p.Thr548=)
c.750T>C (p.Thr250=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022613A>TCA425866674SOS1n.1695T>A
c.582T>A (p.Thr194=)
n.2036T>A
n.1822T>A
c.1704T>A (p.Thr568=)
c.1815T>A (p.Thr605=)
c.1908T>A (p.Thr636=)
c.1794T>A (p.Thr598=)
c.1791T>A (p.Thr597=)
c.1644T>A (p.Thr548=)
c.750T>A (p.Thr250=)
dbSNP gnomAD v3 gnomAD v4
2g.39022614G>ACA346365327SOS1n.1694C>T
c.581C>T (p.Thr194Ile)
n.2035C>T
n.1821C>T
c.1703C>T (p.Thr568Ile)
c.1814C>T (p.Thr605Ile)
c.1907C>T (p.Thr636Ile)
c.1793C>T (p.Thr598Ile)
c.1790C>T (p.Thr597Ile)
c.1643C>T (p.Thr548Ile)
c.749C>T (p.Thr250Ile)
gnomAD v4
2g.39022614G>CCA346365328SOS1n.1694C>G
c.581C>G (p.Thr194Ser)
n.2035C>G
n.1821C>G
c.1703C>G (p.Thr568Ser)
c.1814C>G (p.Thr605Ser)
c.1907C>G (p.Thr636Ser)
c.1793C>G (p.Thr598Ser)
c.1790C>G (p.Thr597Ser)
c.1643C>G (p.Thr548Ser)
c.749C>G (p.Thr250Ser)
2g.39022614G=CA1246139210SOS1n.1694C=
c.581C= (p.Thr194=)
n.2035C=
n.1821C=
c.1703C= (p.Thr568=)
c.1814C= (p.Thr605=)
c.1907C= (p.Thr636=)
c.1793C= (p.Thr598=)
c.1790C= (p.Thr597=)
c.1643C= (p.Thr548=)
c.749C= (p.Thr250=)
2g.39022614G>TCA1624548SOS1n.1694C>A
c.581C>A (p.Thr194Asn)
n.2035C>A
n.1821C>A
c.1703C>A (p.Thr568Asn)
c.1814C>A (p.Thr605Asn)
c.1907C>A (p.Thr636Asn)
c.1793C>A (p.Thr598Asn)
c.1790C>A (p.Thr597Asn)
c.1643C>A (p.Thr548Asn)
c.749C>A (p.Thr250Asn)
ClinVar dbSNP ExAC gnomAD v2
2g.39022615T>ACA346365329SOS1n.1693A>T
c.580A>T (p.Thr194Ser)
n.2034A>T
n.1820A>T
c.1702A>T (p.Thr568Ser)
c.1813A>T (p.Thr605Ser)
c.1906A>T (p.Thr636Ser)
c.1792A>T (p.Thr598Ser)
c.1789A>T (p.Thr597Ser)
c.1642A>T (p.Thr548Ser)
c.748A>T (p.Thr250Ser)
2g.39022615T>CCA346365330SOS1n.1693A>G
c.580A>G (p.Thr194Ala)
n.2034A>G
n.1820A>G
c.1702A>G (p.Thr568Ala)
c.1813A>G (p.Thr605Ala)
c.1906A>G (p.Thr636Ala)
c.1792A>G (p.Thr598Ala)
c.1789A>G (p.Thr597Ala)
c.1642A>G (p.Thr548Ala)
c.748A>G (p.Thr250Ala)
2g.39022615T>GCA346365331SOS1n.1693A>C
c.580A>C (p.Thr194Pro)
n.2034A>C
n.1820A>C
c.1702A>C (p.Thr568Pro)
c.1813A>C (p.Thr605Pro)
c.1906A>C (p.Thr636Pro)
c.1792A>C (p.Thr598Pro)
c.1789A>C (p.Thr597Pro)
c.1642A>C (p.Thr548Pro)
c.748A>C (p.Thr250Pro)
2g.39022616T>ACA425866676SOS1n.1692A>T
c.579A>T (p.Gly193=)
n.2033A>T
n.1819A>T
c.1701A>T (p.Gly567=)
c.1812A>T (p.Gly604=)
c.1905A>T (p.Gly635=)
c.1791A>T (p.Gly597=)
c.1788A>T (p.Gly596=)
c.1641A>T (p.Gly547=)
c.747A>T (p.Gly249=)
2g.39022616T>CCA425866677SOS1n.1692A>G
c.579A>G (p.Gly193=)
n.2033A>G
n.1819A>G
c.1701A>G (p.Gly567=)
c.1812A>G (p.Gly604=)
c.1905A>G (p.Gly635=)
c.1791A>G (p.Gly597=)
c.1788A>G (p.Gly596=)
c.1641A>G (p.Gly547=)
c.747A>G (p.Gly249=)
ClinVar dbSNP gnomAD v4
2g.39022616T>GCA425866678SOS1n.1692A>C
c.579A>C (p.Gly193=)
n.2033A>C
n.1819A>C
c.1701A>C (p.Gly567=)
c.1812A>C (p.Gly604=)
c.1905A>C (p.Gly635=)
c.1791A>C (p.Gly597=)
c.1788A>C (p.Gly596=)
c.1641A>C (p.Gly547=)
c.747A>C (p.Gly249=)
2g.39022617C>ACA346365332SOS1n.1691G>T
c.578G>T (p.Gly193Val)
n.2032G>T
n.1818G>T
c.1700G>T (p.Gly567Val)
c.1811G>T (p.Gly604Val)
c.1904G>T (p.Gly635Val)
c.1790G>T (p.Gly597Val)
c.1787G>T (p.Gly596Val)
c.1640G>T (p.Gly547Val)
c.746G>T (p.Gly249Val)
COSMIC
2g.39022617C>GCA346365333SOS1n.1691G>C
c.578G>C (p.Gly193Ala)
n.2032G>C
n.1818G>C
c.1700G>C (p.Gly567Ala)
c.1811G>C (p.Gly604Ala)
c.1904G>C (p.Gly635Ala)
c.1790G>C (p.Gly597Ala)
c.1787G>C (p.Gly596Ala)
c.1640G>C (p.Gly547Ala)
c.746G>C (p.Gly249Ala)
2g.39022617C>TCA346365334SOS1n.1691G>A
c.578G>A (p.Gly193Glu)
n.2032G>A
n.1818G>A
c.1700G>A (p.Gly567Glu)
c.1811G>A (p.Gly604Glu)
c.1904G>A (p.Gly635Glu)
c.1790G>A (p.Gly597Glu)
c.1787G>A (p.Gly596Glu)
c.1640G>A (p.Gly547Glu)
c.746G>A (p.Gly249Glu)
2g.39022618C>ACA346365335SOS1n.1690G>T
c.577G>T (p.Gly193Ter)
n.2031G>T
n.1817G>T
c.1699G>T (p.Gly567Ter)
c.1810G>T (p.Gly604Ter)
c.1903G>T (p.Gly635Ter)
c.1789G>T (p.Gly597Ter)
c.1786G>T (p.Gly596Ter)
c.1639G>T (p.Gly547Ter)
c.745G>T (p.Gly249Ter)
2g.39022618C>GCA346365337SOS1n.1690G>C
c.577G>C (p.Gly193Arg)
n.2031G>C
n.1817G>C
c.1699G>C (p.Gly567Arg)
c.1810G>C (p.Gly604Arg)
c.1903G>C (p.Gly635Arg)
c.1789G>C (p.Gly597Arg)
c.1786G>C (p.Gly596Arg)
c.1639G>C (p.Gly547Arg)
c.745G>C (p.Gly249Arg)
2g.39022618C>TCA346365336SOS1n.1690G>A
c.577G>A (p.Gly193Arg)
n.2031G>A
n.1817G>A
c.1699G>A (p.Gly567Arg)
c.1810G>A (p.Gly604Arg)
c.1903G>A (p.Gly635Arg)
c.1789G>A (p.Gly597Arg)
c.1786G>A (p.Gly596Arg)
c.1639G>A (p.Gly547Arg)
c.745G>A (p.Gly249Arg)
2g.39022619T>ACA425866681SOS1n.1689A>T
c.576A>T (p.Ala192=)
n.2030A>T
n.1816A>T
c.1698A>T (p.Ala566=)
c.1809A>T (p.Ala603=)
c.1902A>T (p.Ala634=)
c.1788A>T (p.Ala596=)
c.1785A>T (p.Ala595=)
c.1638A>T (p.Ala546=)
c.744A>T (p.Ala248=)
2g.39022619T>CCA425866679SOS1n.1689A>G
c.576A>G (p.Ala192=)
n.2030A>G
n.1816A>G
c.1698A>G (p.Ala566=)
c.1809A>G (p.Ala603=)
c.1902A>G (p.Ala634=)
c.1788A>G (p.Ala596=)
c.1785A>G (p.Ala595=)
c.1638A>G (p.Ala546=)
c.744A>G (p.Ala248=)
2g.39022619T>GCA425866680SOS1n.1689A>C
c.576A>C (p.Ala192=)
n.2030A>C
n.1816A>C
c.1698A>C (p.Ala566=)
c.1809A>C (p.Ala603=)
c.1902A>C (p.Ala634=)
c.1788A>C (p.Ala596=)
c.1785A>C (p.Ala595=)
c.1638A>C (p.Ala546=)
c.744A>C (p.Ala248=)
2g.39022620G>ACA346365338SOS1n.1688C>T
c.575C>T (p.Ala192Val)
n.2029C>T
n.1815C>T
c.1697C>T (p.Ala566Val)
c.1808C>T (p.Ala603Val)
c.1901C>T (p.Ala634Val)
c.1787C>T (p.Ala596Val)
c.1784C>T (p.Ala595Val)
c.1637C>T (p.Ala546Val)
c.743C>T (p.Ala248Val)
2g.39022620G>CCA346365339SOS1n.1688C>G
c.575C>G (p.Ala192Gly)
n.2029C>G
n.1815C>G
c.1697C>G (p.Ala566Gly)
c.1808C>G (p.Ala603Gly)
c.1901C>G (p.Ala634Gly)
c.1787C>G (p.Ala596Gly)
c.1784C>G (p.Ala595Gly)
c.1637C>G (p.Ala546Gly)
c.743C>G (p.Ala248Gly)
2g.39022620G>TCA346365340SOS1n.1688C>A
c.575C>A (p.Ala192Glu)
n.2029C>A
n.1815C>A
c.1697C>A (p.Ala566Glu)
c.1808C>A (p.Ala603Glu)
c.1901C>A (p.Ala634Glu)
c.1787C>A (p.Ala596Glu)
c.1784C>A (p.Ala595Glu)
c.1637C>A (p.Ala546Glu)
c.743C>A (p.Ala248Glu)
2g.39022621C>ACA346365341SOS1n.1687G>T
c.574G>T (p.Ala192Ser)
n.2028G>T
n.1814G>T
c.1696G>T (p.Ala566Ser)
c.1807G>T (p.Ala603Ser)
c.1900G>T (p.Ala634Ser)
c.1786G>T (p.Ala596Ser)
c.1783G>T (p.Ala595Ser)
c.1636G>T (p.Ala546Ser)
c.742G>T (p.Ala248Ser)
2g.39022621C>GCA346365342SOS1n.1687G>C
c.574G>C (p.Ala192Pro)
n.2028G>C
n.1814G>C
c.1696G>C (p.Ala566Pro)
c.1807G>C (p.Ala603Pro)
c.1900G>C (p.Ala634Pro)
c.1786G>C (p.Ala596Pro)
c.1783G>C (p.Ala595Pro)
c.1636G>C (p.Ala546Pro)
c.742G>C (p.Ala248Pro)
2g.39022621C>TCA346365343SOS1n.1687G>A
c.574G>A (p.Ala192Thr)
n.2028G>A
n.1814G>A
c.1696G>A (p.Ala566Thr)
c.1807G>A (p.Ala603Thr)
c.1900G>A (p.Ala634Thr)
c.1786G>A (p.Ala596Thr)
c.1783G>A (p.Ala595Thr)
c.1636G>A (p.Ala546Thr)
c.742G>A (p.Ala248Thr)
2g.39022622T>ACA346365344SOS1n.1686A>T
c.573A>T (p.Lys191Asn)
n.2027A>T
n.1813A>T
c.1695A>T (p.Lys565Asn)
c.1806A>T (p.Lys602Asn)
c.1899A>T (p.Lys633Asn)
c.1785A>T (p.Lys595Asn)
c.1782A>T (p.Lys594Asn)
c.1635A>T (p.Lys545Asn)
c.741A>T (p.Lys247Asn)
2g.39022622T>CCA425866682SOS1n.1686A>G
c.573A>G (p.Lys191=)
n.2027A>G
n.1813A>G
c.1695A>G (p.Lys565=)
c.1806A>G (p.Lys602=)
c.1899A>G (p.Lys633=)
c.1785A>G (p.Lys595=)
c.1782A>G (p.Lys594=)
c.1635A>G (p.Lys545=)
c.741A>G (p.Lys247=)
2g.39022622T>GCA346365345SOS1n.1686A>C
c.573A>C (p.Lys191Asn)
n.2027A>C
n.1813A>C
c.1695A>C (p.Lys565Asn)
c.1806A>C (p.Lys602Asn)
c.1899A>C (p.Lys633Asn)
c.1785A>C (p.Lys595Asn)
c.1782A>C (p.Lys594Asn)
c.1635A>C (p.Lys545Asn)
c.741A>C (p.Lys247Asn)
2g.39022623T>ACA346365346SOS1n.1685A>T
c.572A>T (p.Lys191Ile)
n.2026A>T
n.1812A>T
c.1694A>T (p.Lys565Ile)
c.1805A>T (p.Lys602Ile)
c.1898A>T (p.Lys633Ile)
c.1784A>T (p.Lys595Ile)
c.1781A>T (p.Lys594Ile)
c.1634A>T (p.Lys545Ile)
c.740A>T (p.Lys247Ile)
2g.39022623T>CCA346365347SOS1n.1685A>G
c.572A>G (p.Lys191Arg)
n.2026A>G
n.1812A>G
c.1694A>G (p.Lys565Arg)
c.1805A>G (p.Lys602Arg)
c.1898A>G (p.Lys633Arg)
c.1784A>G (p.Lys595Arg)
c.1781A>G (p.Lys594Arg)
c.1634A>G (p.Lys545Arg)
c.740A>G (p.Lys247Arg)
2g.39022623T>GCA346365348SOS1n.1685A>C
c.572A>C (p.Lys191Thr)
n.2026A>C
n.1812A>C
c.1694A>C (p.Lys565Thr)
c.1805A>C (p.Lys602Thr)
c.1898A>C (p.Lys633Thr)
c.1784A>C (p.Lys595Thr)
c.1781A>C (p.Lys594Thr)
c.1634A>C (p.Lys545Thr)
c.740A>C (p.Lys247Thr)
2g.39022624T>ACA346365350SOS1n.1684A>T
c.571A>T (p.Lys191Ter)
n.2025A>T
n.1811A>T
c.1693A>T (p.Lys565Ter)
c.1804A>T (p.Lys602Ter)
c.1897A>T (p.Lys633Ter)
c.1783A>T (p.Lys595Ter)
c.1780A>T (p.Lys594Ter)
c.1633A>T (p.Lys545Ter)
c.739A>T (p.Lys247Ter)
2g.39022624T>CCA346365351SOS1n.1684A>G
c.571A>G (p.Lys191Glu)
n.2025A>G
n.1811A>G
c.1693A>G (p.Lys565Glu)
c.1804A>G (p.Lys602Glu)
c.1897A>G (p.Lys633Glu)
c.1783A>G (p.Lys595Glu)
c.1780A>G (p.Lys594Glu)
c.1633A>G (p.Lys545Glu)
c.739A>G (p.Lys247Glu)
2g.39022624T>GCA346365349SOS1n.1684A>C
c.571A>C (p.Lys191Gln)
n.2025A>C
n.1811A>C
c.1693A>C (p.Lys565Gln)
c.1804A>C (p.Lys602Gln)
c.1897A>C (p.Lys633Gln)
c.1783A>C (p.Lys595Gln)
c.1780A>C (p.Lys594Gln)
c.1633A>C (p.Lys545Gln)
c.739A>C (p.Lys247Gln)
2g.39022625G>ACA425866683SOS1n.1683C>T
c.570C>T (p.Ile190=)
n.2024C>T
n.1810C>T
c.1692C>T (p.Ile564=)
c.1803C>T (p.Ile601=)
c.1896C>T (p.Ile632=)
c.1782C>T (p.Ile594=)
c.1779C>T (p.Ile593=)
c.1632C>T (p.Ile544=)
c.738C>T (p.Ile246=)
2g.39022625G>CCA346365352SOS1n.1683C>G
c.570C>G (p.Ile190Met)
n.2024C>G
n.1810C>G
c.1692C>G (p.Ile564Met)
c.1803C>G (p.Ile601Met)
c.1896C>G (p.Ile632Met)
c.1782C>G (p.Ile594Met)
c.1779C>G (p.Ile593Met)
c.1632C>G (p.Ile544Met)
c.738C>G (p.Ile246Met)
gnomAD v4
2g.39022625G>TCA425866684SOS1n.1683C>A
c.570C>A (p.Ile190=)
n.2024C>A
n.1810C>A
c.1692C>A (p.Ile564=)
c.1803C>A (p.Ile601=)
c.1896C>A (p.Ile632=)
c.1782C>A (p.Ile594=)
c.1779C>A (p.Ile593=)
c.1632C>A (p.Ile544=)
c.738C>A (p.Ile246=)
2g.39022626A=CA1246139213SOS1n.1682T=
c.569T= (p.Ile190=)
n.2023T=
n.1809T=
c.1691T= (p.Ile564=)
c.1802T= (p.Ile601=)
c.1895T= (p.Ile632=)
c.1781T= (p.Ile594=)
c.1778T= (p.Ile593=)
c.1631T= (p.Ile544=)
c.737T= (p.Ile246=)
2g.39022626A>CCA346365353SOS1n.1682T>G
c.569T>G (p.Ile190Ser)
n.2023T>G
n.1809T>G
c.1691T>G (p.Ile564Ser)
c.1802T>G (p.Ile601Ser)
c.1895T>G (p.Ile632Ser)
c.1781T>G (p.Ile594Ser)
c.1778T>G (p.Ile593Ser)
c.1631T>G (p.Ile544Ser)
c.737T>G (p.Ile246Ser)
2g.39022626A>GCA346365354SOS1n.1682T>C
c.569T>C (p.Ile190Thr)
n.2023T>C
n.1809T>C
c.1691T>C (p.Ile564Thr)
c.1802T>C (p.Ile601Thr)
c.1895T>C (p.Ile632Thr)
c.1781T>C (p.Ile594Thr)
c.1778T>C (p.Ile593Thr)
c.1631T>C (p.Ile544Thr)
c.737T>C (p.Ile246Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022626A>TCA346365355SOS1n.1682T>A
c.569T>A (p.Ile190Asn)
n.2023T>A
n.1809T>A
c.1691T>A (p.Ile564Asn)
c.1802T>A (p.Ile601Asn)
c.1895T>A (p.Ile632Asn)
c.1781T>A (p.Ile594Asn)
c.1778T>A (p.Ile593Asn)
c.1631T>A (p.Ile544Asn)
c.737T>A (p.Ile246Asn)
2g.39022627T>ACA346365356SOS1n.1681A>T
c.568A>T (p.Ile190Phe)
n.2022A>T
n.1808A>T
c.1690A>T (p.Ile564Phe)
c.1801A>T (p.Ile601Phe)
c.1894A>T (p.Ile632Phe)
c.1780A>T (p.Ile594Phe)
c.1777A>T (p.Ile593Phe)
c.1630A>T (p.Ile544Phe)
c.736A>T (p.Ile246Phe)
2g.39022627T>CCA346365357SOS1n.1681A>G
c.568A>G (p.Ile190Val)
n.2022A>G
n.1808A>G
c.1690A>G (p.Ile564Val)
c.1801A>G (p.Ile601Val)
c.1894A>G (p.Ile632Val)
c.1780A>G (p.Ile594Val)
c.1777A>G (p.Ile593Val)
c.1630A>G (p.Ile544Val)
c.736A>G (p.Ile246Val)
2g.39022627T>GCA346365358SOS1n.1681A>C
c.568A>C (p.Ile190Leu)
n.2022A>C
n.1808A>C
c.1690A>C (p.Ile564Leu)
c.1801A>C (p.Ile601Leu)
c.1894A>C (p.Ile632Leu)
c.1780A>C (p.Ile594Leu)
c.1777A>C (p.Ile593Leu)
c.1630A>C (p.Ile544Leu)
c.736A>C (p.Ile246Leu)
2g.39022628A=CA1246139219SOS1n.1680T=
c.567T= (p.Ile189=)
n.2021T=
n.1807T=
c.1689T= (p.Ile563=)
c.1800T= (p.Ile600=)
c.1893T= (p.Ile631=)
c.1779T= (p.Ile593=)
c.1776T= (p.Ile592=)
c.1629T= (p.Ile543=)
c.735T= (p.Ile245=)
2g.39022628A>CCA1624550SOS1n.1680T>G
c.567T>G (p.Ile189Met)
n.2021T>G
n.1807T>G
c.1689T>G (p.Ile563Met)
c.1800T>G (p.Ile600Met)
c.1893T>G (p.Ile631Met)
c.1779T>G (p.Ile593Met)
c.1776T>G (p.Ile592Met)
c.1629T>G (p.Ile543Met)
c.735T>G (p.Ile245Met)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022628A>GCA425866685SOS1n.1680T>C
c.567T>C (p.Ile189=)
n.2021T>C
n.1807T>C
c.1689T>C (p.Ile563=)
c.1800T>C (p.Ile600=)
c.1893T>C (p.Ile631=)
c.1779T>C (p.Ile593=)
c.1776T>C (p.Ile592=)
c.1629T>C (p.Ile543=)
c.735T>C (p.Ile245=)
2g.39022628A>TCA1624549SOS1n.1680T>A
c.567T>A (p.Ile189=)
n.2021T>A
n.1807T>A
c.1689T>A (p.Ile563=)
c.1800T>A (p.Ile600=)
c.1893T>A (p.Ile631=)
c.1779T>A (p.Ile593=)
c.1776T>A (p.Ile592=)
c.1629T>A (p.Ile543=)
c.735T>A (p.Ile245=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022629A>CCA346365359SOS1n.1679T>G
c.566T>G (p.Ile189Ser)
n.2020T>G
n.1806T>G
c.1688T>G (p.Ile563Ser)
c.1799T>G (p.Ile600Ser)
c.1892T>G (p.Ile631Ser)
c.1778T>G (p.Ile593Ser)
c.1775T>G (p.Ile592Ser)
c.1628T>G (p.Ile543Ser)
c.734T>G (p.Ile245Ser)
2g.39022629A>GCA346365360SOS1n.1679T>C
c.566T>C (p.Ile189Thr)
n.2020T>C
n.1806T>C
c.1688T>C (p.Ile563Thr)
c.1799T>C (p.Ile600Thr)
c.1892T>C (p.Ile631Thr)
c.1778T>C (p.Ile593Thr)
c.1775T>C (p.Ile592Thr)
c.1628T>C (p.Ile543Thr)
c.734T>C (p.Ile245Thr)
2g.39022629A>TCA346365361SOS1n.1679T>A
c.566T>A (p.Ile189Asn)
n.2020T>A
n.1806T>A
c.1688T>A (p.Ile563Asn)
c.1799T>A (p.Ile600Asn)
c.1892T>A (p.Ile631Asn)
c.1778T>A (p.Ile593Asn)
c.1775T>A (p.Ile592Asn)
c.1628T>A (p.Ile543Asn)
c.734T>A (p.Ile245Asn)
2g.39022630T>ACA346365362SOS1n.1678A>T
c.565A>T (p.Ile189Phe)
n.2019A>T
n.1805A>T
c.1687A>T (p.Ile563Phe)
c.1798A>T (p.Ile600Phe)
c.1891A>T (p.Ile631Phe)
c.1777A>T (p.Ile593Phe)
c.1774A>T (p.Ile592Phe)
c.1627A>T (p.Ile543Phe)
c.733A>T (p.Ile245Phe)
2g.39022630T>CCA1624551SOS1n.1678A>G
c.565A>G (p.Ile189Val)
n.2019A>G
n.1805A>G
c.1687A>G (p.Ile563Val)
c.1798A>G (p.Ile600Val)
c.1891A>G (p.Ile631Val)
c.1777A>G (p.Ile593Val)
c.1774A>G (p.Ile592Val)
c.1627A>G (p.Ile543Val)
c.733A>G (p.Ile245Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.39022630T>GCA45674350SOS1n.1678A>C
c.565A>C (p.Ile189Leu)
n.2019A>C
n.1805A>C
c.1687A>C (p.Ile563Leu)
c.1798A>C (p.Ile600Leu)
c.1891A>C (p.Ile631Leu)
c.1777A>C (p.Ile593Leu)
c.1774A>C (p.Ile592Leu)
c.1627A>C (p.Ile543Leu)
c.733A>C (p.Ile245Leu)
ClinVar dbSNP gnomAD v4
2g.39022630T=CA1246139225SOS1n.1678A=
c.565A= (p.Ile189=)
n.2019A=
n.1805A=
c.1687A= (p.Ile563=)
c.1798A= (p.Ile600=)
c.1891A= (p.Ile631=)
c.1777A= (p.Ile593=)
c.1774A= (p.Ile592=)
c.1627A= (p.Ile543=)
c.733A= (p.Ile245=)
2g.39022631T>ACA425866687SOS1n.1677A>T
c.564A>T (p.Pro188=)
n.2018A>T
n.1804A>T
c.1686A>T (p.Pro562=)
c.1797A>T (p.Pro599=)
c.1890A>T (p.Pro630=)
c.1776A>T (p.Pro592=)
c.1773A>T (p.Pro591=)
c.1626A>T (p.Pro542=)
c.732A>T (p.Pro244=)
2g.39022631T>CCA425866688SOS1n.1677A>G
c.564A>G (p.Pro188=)
n.2018A>G
n.1804A>G
c.1686A>G (p.Pro562=)
c.1797A>G (p.Pro599=)
c.1890A>G (p.Pro630=)
c.1776A>G (p.Pro592=)
c.1773A>G (p.Pro591=)
c.1626A>G (p.Pro542=)
c.732A>G (p.Pro244=)
2g.39022631T>GCA425866686SOS1n.1677A>C
c.564A>C (p.Pro188=)
n.2018A>C
n.1804A>C
c.1686A>C (p.Pro562=)
c.1797A>C (p.Pro599=)
c.1890A>C (p.Pro630=)
c.1776A>C (p.Pro592=)
c.1773A>C (p.Pro591=)
c.1626A>C (p.Pro542=)
c.732A>C (p.Pro244=)
2g.39022632G>ACA346365363SOS1n.1676C>T
c.563C>T (p.Pro188Leu)
n.2017C>T
n.1803C>T
c.1685C>T (p.Pro562Leu)
c.1796C>T (p.Pro599Leu)
c.1889C>T (p.Pro630Leu)
c.1775C>T (p.Pro592Leu)
c.1772C>T (p.Pro591Leu)
c.1625C>T (p.Pro542Leu)
c.731C>T (p.Pro244Leu)
2g.39022632G>CCA346365365SOS1n.1676C>G
c.563C>G (p.Pro188Arg)
n.2017C>G
n.1803C>G
c.1685C>G (p.Pro562Arg)
c.1796C>G (p.Pro599Arg)
c.1889C>G (p.Pro630Arg)
c.1775C>G (p.Pro592Arg)
c.1772C>G (p.Pro591Arg)
c.1625C>G (p.Pro542Arg)
c.731C>G (p.Pro244Arg)
2g.39022632G>TCA346365364SOS1n.1676C>A
c.563C>A (p.Pro188Gln)
n.2017C>A
n.1803C>A
c.1685C>A (p.Pro562Gln)
c.1796C>A (p.Pro599Gln)
c.1889C>A (p.Pro630Gln)
c.1775C>A (p.Pro592Gln)
c.1772C>A (p.Pro591Gln)
c.1625C>A (p.Pro542Gln)
c.731C>A (p.Pro244Gln)
2g.39022633G>ACA346365366SOS1n.1675C>T
c.562C>T (p.Pro188Ser)
n.2016C>T
n.1802C>T
c.1684C>T (p.Pro562Ser)
c.1795C>T (p.Pro599Ser)
c.1888C>T (p.Pro630Ser)
c.1774C>T (p.Pro592Ser)
c.1771C>T (p.Pro591Ser)
c.1624C>T (p.Pro542Ser)
c.730C>T (p.Pro244Ser)
2g.39022633G>CCA346365367SOS1n.1675C>G
c.562C>G (p.Pro188Ala)
n.2016C>G
n.1802C>G
c.1684C>G (p.Pro562Ala)
c.1795C>G (p.Pro599Ala)
c.1888C>G (p.Pro630Ala)
c.1774C>G (p.Pro592Ala)
c.1771C>G (p.Pro591Ala)
c.1624C>G (p.Pro542Ala)
c.730C>G (p.Pro244Ala)
2g.39022633G=CA1246139235SOS1n.1675C=
c.562C= (p.Pro188=)
n.2016C=
n.1802C=
c.1684C= (p.Pro562=)
c.1795C= (p.Pro599=)
c.1888C= (p.Pro630=)
c.1774C= (p.Pro592=)
c.1771C= (p.Pro591=)
c.1624C= (p.Pro542=)
c.730C= (p.Pro244=)
2g.39022633G>TCA346365368SOS1n.1675C>A
c.562C>A (p.Pro188Thr)
n.2016C>A
n.1802C>A
c.1684C>A (p.Pro562Thr)
c.1795C>A (p.Pro599Thr)
c.1888C>A (p.Pro630Thr)
c.1774C>A (p.Pro592Thr)
c.1771C>A (p.Pro591Thr)
c.1624C>A (p.Pro542Thr)
c.730C>A (p.Pro244Thr)
ClinVar dbSNP
2g.39022634A>CCA346365369SOS1n.1674T>G
c.561T>G (p.Ile187Met)
n.2015T>G
n.1801T>G
c.1683T>G (p.Ile561Met)
c.1794T>G (p.Ile598Met)
c.1887T>G (p.Ile629Met)
c.1773T>G (p.Ile591Met)
c.1770T>G (p.Ile590Met)
c.1623T>G (p.Ile541Met)
c.729T>G (p.Ile243Met)
2g.39022634A>GCA425866689SOS1n.1674T>C
c.561T>C (p.Ile187=)
n.2015T>C
n.1801T>C
c.1683T>C (p.Ile561=)
c.1794T>C (p.Ile598=)
c.1887T>C (p.Ile629=)
c.1773T>C (p.Ile591=)
c.1770T>C (p.Ile590=)
c.1623T>C (p.Ile541=)
c.729T>C (p.Ile243=)
2g.39022634A>TCA425866690SOS1n.1674T>A
c.561T>A (p.Ile187=)
n.2015T>A
n.1801T>A
c.1683T>A (p.Ile561=)
c.1794T>A (p.Ile598=)
c.1887T>A (p.Ile629=)
c.1773T>A (p.Ile591=)
c.1770T>A (p.Ile590=)
c.1623T>A (p.Ile541=)
c.729T>A (p.Ile243=)
2g.39022635A=CA1246139236SOS1n.1673T=
c.560T= (p.Ile187=)
n.2014T=
n.1800T=
c.1682T= (p.Ile561=)
c.1793T= (p.Ile598=)
c.1886T= (p.Ile629=)
c.1772T= (p.Ile591=)
c.1769T= (p.Ile590=)
c.1622T= (p.Ile541=)
c.728T= (p.Ile243=)
2g.39022635A>CCA346365370SOS1n.1673T>G
c.560T>G (p.Ile187Ser)
n.2014T>G
n.1800T>G
c.1682T>G (p.Ile561Ser)
c.1793T>G (p.Ile598Ser)
c.1886T>G (p.Ile629Ser)
c.1772T>G (p.Ile591Ser)
c.1769T>G (p.Ile590Ser)
c.1622T>G (p.Ile541Ser)
c.728T>G (p.Ile243Ser)
gnomAD v4
2g.39022635A>GCA1624552SOS1n.1673T>C
c.560T>C (p.Ile187Thr)
n.2014T>C
n.1800T>C
c.1682T>C (p.Ile561Thr)
c.1793T>C (p.Ile598Thr)
c.1886T>C (p.Ile629Thr)
c.1772T>C (p.Ile591Thr)
c.1769T>C (p.Ile590Thr)
c.1622T>C (p.Ile541Thr)
c.728T>C (p.Ile243Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022635A>TCA346365371SOS1n.1673T>A
c.560T>A (p.Ile187Asn)
n.2014T>A
n.1800T>A
c.1682T>A (p.Ile561Asn)
c.1793T>A (p.Ile598Asn)
c.1886T>A (p.Ile629Asn)
c.1772T>A (p.Ile591Asn)
c.1769T>A (p.Ile590Asn)
c.1622T>A (p.Ile541Asn)
c.728T>A (p.Ile243Asn)
2g.39022636T>ACA346365372SOS1n.1672A>T
c.559A>T (p.Ile187Phe)
n.2013A>T
n.1799A>T
c.1681A>T (p.Ile561Phe)
c.1792A>T (p.Ile598Phe)
c.1885A>T (p.Ile629Phe)
c.1771A>T (p.Ile591Phe)
c.1768A>T (p.Ile590Phe)
c.1621A>T (p.Ile541Phe)
c.727A>T (p.Ile243Phe)
2g.39022636T>CCA346365373SOS1n.1672A>G
c.559A>G (p.Ile187Val)
n.2013A>G
n.1799A>G
c.1681A>G (p.Ile561Val)
c.1792A>G (p.Ile598Val)
c.1885A>G (p.Ile629Val)
c.1771A>G (p.Ile591Val)
c.1768A>G (p.Ile590Val)
c.1621A>G (p.Ile541Val)
c.727A>G (p.Ile243Val)
2g.39022636T>GCA346365374SOS1n.1672A>C
c.559A>C (p.Ile187Leu)
n.2013A>C
n.1799A>C
c.1681A>C (p.Ile561Leu)
c.1792A>C (p.Ile598Leu)
c.1885A>C (p.Ile629Leu)
c.1771A>C (p.Ile591Leu)
c.1768A>C (p.Ile590Leu)
c.1621A>C (p.Ile541Leu)
c.727A>C (p.Ile243Leu)
2g.39022637T>ACA425866691SOS1n.1671A>T
c.558A>T (p.Gly186=)
n.2012A>T
n.1798A>T
c.1680A>T (p.Gly560=)
c.1791A>T (p.Gly597=)
c.1884A>T (p.Gly628=)
c.1770A>T (p.Gly590=)
c.1767A>T (p.Gly589=)
c.1620A>T (p.Gly540=)
c.726A>T (p.Gly242=)
2g.39022637T>CCA425866692SOS1n.1671A>G
c.558A>G (p.Gly186=)
n.2012A>G
n.1798A>G
c.1680A>G (p.Gly560=)
c.1791A>G (p.Gly597=)
c.1884A>G (p.Gly628=)
c.1770A>G (p.Gly590=)
c.1767A>G (p.Gly589=)
c.1620A>G (p.Gly540=)
c.726A>G (p.Gly242=)
2g.39022637T>GCA425866693SOS1n.1671A>C
c.558A>C (p.Gly186=)
n.2012A>C
n.1798A>C
c.1680A>C (p.Gly560=)
c.1791A>C (p.Gly597=)
c.1884A>C (p.Gly628=)
c.1770A>C (p.Gly590=)
c.1767A>C (p.Gly589=)
c.1620A>C (p.Gly540=)
c.726A>C (p.Gly242=)
2g.39022638C>ACA346365375SOS1n.1670G>T
c.557G>T (p.Gly186Val)
n.2011G>T
n.1797G>T
c.1679G>T (p.Gly560Val)
c.1790G>T (p.Gly597Val)
c.1883G>T (p.Gly628Val)
c.1769G>T (p.Gly590Val)
c.1766G>T (p.Gly589Val)
c.1619G>T (p.Gly540Val)
c.725G>T (p.Gly242Val)
ClinVar dbSNP
2g.39022638C>GCA346365376SOS1n.1670G>C
c.557G>C (p.Gly186Ala)
n.2011G>C
n.1797G>C
c.1679G>C (p.Gly560Ala)
c.1790G>C (p.Gly597Ala)
c.1883G>C (p.Gly628Ala)
c.1769G>C (p.Gly590Ala)
c.1766G>C (p.Gly589Ala)
c.1619G>C (p.Gly540Ala)
c.725G>C (p.Gly242Ala)
2g.39022638C>TCA346365377SOS1n.1670G>A
c.557G>A (p.Gly186Glu)
n.2011G>A
n.1797G>A
c.1679G>A (p.Gly560Glu)
c.1790G>A (p.Gly597Glu)
c.1883G>A (p.Gly628Glu)
c.1769G>A (p.Gly590Glu)
c.1766G>A (p.Gly589Glu)
c.1619G>A (p.Gly540Glu)
c.725G>A (p.Gly242Glu)
2g.39022639C>ACA346365378SOS1n.1669G>T
c.556G>T (p.Gly186Ter)
n.2010G>T
n.1796G>T
c.1678G>T (p.Gly560Ter)
c.1789G>T (p.Gly597Ter)
c.1882G>T (p.Gly628Ter)
c.1768G>T (p.Gly590Ter)
c.1765G>T (p.Gly589Ter)
c.1618G>T (p.Gly540Ter)
c.724G>T (p.Gly242Ter)
2g.39022639C>GCA346365380SOS1n.1669G>C
c.556G>C (p.Gly186Arg)
n.2010G>C
n.1796G>C
c.1678G>C (p.Gly560Arg)
c.1789G>C (p.Gly597Arg)
c.1882G>C (p.Gly628Arg)
c.1768G>C (p.Gly590Arg)
c.1765G>C (p.Gly589Arg)
c.1618G>C (p.Gly540Arg)
c.724G>C (p.Gly242Arg)
2g.39022639C>TCA346365379SOS1n.1669G>A
c.556G>A (p.Gly186Arg)
n.2010G>A
n.1796G>A
c.1678G>A (p.Gly560Arg)
c.1789G>A (p.Gly597Arg)
c.1882G>A (p.Gly628Arg)
c.1768G>A (p.Gly590Arg)
c.1765G>A (p.Gly589Arg)
c.1618G>A (p.Gly540Arg)
c.724G>A (p.Gly242Arg)
2g.39022640A>CCA425866694SOS1n.1668T>G
c.555T>G (p.Ala185=)
n.2009T>G
n.1795T>G
c.1677T>G (p.Ala559=)
c.1788T>G (p.Ala596=)
c.1881T>G (p.Ala627=)
c.1767T>G (p.Ala589=)
c.1764T>G (p.Ala588=)
c.1617T>G (p.Ala539=)
c.723T>G (p.Ala241=)
2g.39022640A>GCA425866695SOS1n.1668T>C
c.555T>C (p.Ala185=)
n.2009T>C
n.1795T>C
c.1677T>C (p.Ala559=)
c.1788T>C (p.Ala596=)
c.1881T>C (p.Ala627=)
c.1767T>C (p.Ala589=)
c.1764T>C (p.Ala588=)
c.1617T>C (p.Ala539=)
c.723T>C (p.Ala241=)
2g.39022640A>TCA425866696SOS1n.1668T>A
c.555T>A (p.Ala185=)
n.2009T>A
n.1795T>A
c.1677T>A (p.Ala559=)
c.1788T>A (p.Ala596=)
c.1881T>A (p.Ala627=)
c.1767T>A (p.Ala589=)
c.1764T>A (p.Ala588=)
c.1617T>A (p.Ala539=)
c.723T>A (p.Ala241=)
2g.39022641G>ACA346365381SOS1n.1667C>T
c.554C>T (p.Ala185Val)
n.2008C>T
n.1794C>T
c.1676C>T (p.Ala559Val)
c.1787C>T (p.Ala596Val)
c.1880C>T (p.Ala627Val)
c.1766C>T (p.Ala589Val)
c.1763C>T (p.Ala588Val)
c.1616C>T (p.Ala539Val)
c.722C>T (p.Ala241Val)
2g.39022641G>CCA346365382SOS1n.1667C>G
c.554C>G (p.Ala185Gly)
n.2008C>G
n.1794C>G
c.1676C>G (p.Ala559Gly)
c.1787C>G (p.Ala596Gly)
c.1880C>G (p.Ala627Gly)
c.1766C>G (p.Ala589Gly)
c.1763C>G (p.Ala588Gly)
c.1616C>G (p.Ala539Gly)
c.722C>G (p.Ala241Gly)
dbSNP gnomAD v3 gnomAD v4
2g.39022641G=CA1246139241SOS1n.1667C=
c.554C= (p.Ala185=)
n.2008C=
n.1794C=
c.1676C= (p.Ala559=)
c.1787C= (p.Ala596=)
c.1880C= (p.Ala627=)
c.1766C= (p.Ala589=)
c.1763C= (p.Ala588=)
c.1616C= (p.Ala539=)
c.722C= (p.Ala241=)
2g.39022641G>TCA1624553SOS1n.1667C>A
c.554C>A (p.Ala185Asp)
n.2008C>A
n.1794C>A
c.1676C>A (p.Ala559Asp)
c.1787C>A (p.Ala596Asp)
c.1880C>A (p.Ala627Asp)
c.1766C>A (p.Ala589Asp)
c.1763C>A (p.Ala588Asp)
c.1616C>A (p.Ala539Asp)
c.722C>A (p.Ala241Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022642C>ACA346365383SOS1n.1666G>T
c.553G>T (p.Ala185Ser)
n.2007G>T
n.1793G>T
c.1675G>T (p.Ala559Ser)
c.1786G>T (p.Ala596Ser)
c.1879G>T (p.Ala627Ser)
c.1765G>T (p.Ala589Ser)
c.1762G>T (p.Ala588Ser)
c.1615G>T (p.Ala539Ser)
c.721G>T (p.Ala241Ser)
2g.39022642C>GCA346365384SOS1n.1666G>C
c.553G>C (p.Ala185Pro)
n.2007G>C
n.1793G>C
c.1675G>C (p.Ala559Pro)
c.1786G>C (p.Ala596Pro)
c.1879G>C (p.Ala627Pro)
c.1765G>C (p.Ala589Pro)
c.1762G>C (p.Ala588Pro)
c.1615G>C (p.Ala539Pro)
c.721G>C (p.Ala241Pro)
gnomAD v4
2g.39022642C>TCA346365385SOS1n.1666G>A
c.553G>A (p.Ala185Thr)
n.2007G>A
n.1793G>A
c.1675G>A (p.Ala559Thr)
c.1786G>A (p.Ala596Thr)
c.1879G>A (p.Ala627Thr)
c.1765G>A (p.Ala589Thr)
c.1762G>A (p.Ala588Thr)
c.1615G>A (p.Ala539Thr)
c.721G>A (p.Ala241Thr)
2g.39022643C>ACA346365386SOS1n.1665G>T
c.552G>T (p.Lys184Asn)
n.2006G>T
n.1792G>T
c.1674G>T (p.Lys558Asn)
c.1785G>T (p.Lys595Asn)
c.1878G>T (p.Lys626Asn)
c.1764G>T (p.Lys588Asn)
c.1761G>T (p.Lys587Asn)
c.1614G>T (p.Lys538Asn)
c.720G>T (p.Lys240Asn)
2g.39022643C=CA1246139245SOS1n.1665G=
c.552G= (p.Lys184=)
n.2006G=
n.1792G=
c.1674G= (p.Lys558=)
c.1785G= (p.Lys595=)
c.1878G= (p.Lys626=)
c.1764G= (p.Lys588=)
c.1761G= (p.Lys587=)
c.1614G= (p.Lys538=)
c.720G= (p.Lys240=)
2g.39022643C>GCA45674380SOS1n.1665G>C
c.552G>C (p.Lys184Asn)
n.2006G>C
n.1792G>C
c.1674G>C (p.Lys558Asn)
c.1785G>C (p.Lys595Asn)
c.1878G>C (p.Lys626Asn)
c.1764G>C (p.Lys588Asn)
c.1761G>C (p.Lys587Asn)
c.1614G>C (p.Lys538Asn)
c.720G>C (p.Lys240Asn)
dbSNP gnomAD v4
2g.39022643C>TCA425866697SOS1n.1665G>A
c.552G>A (p.Lys184=)
n.2006G>A
n.1792G>A
c.1674G>A (p.Lys558=)
c.1785G>A (p.Lys595=)
c.1878G>A (p.Lys626=)
c.1764G>A (p.Lys588=)
c.1761G>A (p.Lys587=)
c.1614G>A (p.Lys538=)
c.720G>A (p.Lys240=)
2g.39022644T>ACA346365387SOS1n.1664A>T
c.551A>T (p.Lys184Met)
n.2005A>T
n.1791A>T
c.1673A>T (p.Lys558Met)
c.1784A>T (p.Lys595Met)
c.1877A>T (p.Lys626Met)
c.1763A>T (p.Lys588Met)
c.1760A>T (p.Lys587Met)
c.1613A>T (p.Lys538Met)
c.719A>T (p.Lys240Met)
COSMIC
2g.39022644T>CCA346365388SOS1n.1664A>G
c.551A>G (p.Lys184Arg)
n.2005A>G
n.1791A>G
c.1673A>G (p.Lys558Arg)
c.1784A>G (p.Lys595Arg)
c.1877A>G (p.Lys626Arg)
c.1763A>G (p.Lys588Arg)
c.1760A>G (p.Lys587Arg)
c.1613A>G (p.Lys538Arg)
c.719A>G (p.Lys240Arg)
2g.39022644T>GCA346365389SOS1n.1664A>C
c.551A>C (p.Lys184Thr)
n.2005A>C
n.1791A>C
c.1673A>C (p.Lys558Thr)
c.1784A>C (p.Lys595Thr)
c.1877A>C (p.Lys626Thr)
c.1763A>C (p.Lys588Thr)
c.1760A>C (p.Lys587Thr)
c.1613A>C (p.Lys538Thr)
c.719A>C (p.Lys240Thr)
2g.39022645T>ACA346365390SOS1n.1663A>T
c.550A>T (p.Lys184Ter)
n.2004A>T
n.1790A>T
c.1672A>T (p.Lys558Ter)
c.1783A>T (p.Lys595Ter)
c.1876A>T (p.Lys626Ter)
c.1762A>T (p.Lys588Ter)
c.1759A>T (p.Lys587Ter)
c.1612A>T (p.Lys538Ter)
c.718A>T (p.Lys240Ter)
2g.39022645T>CCA346365391SOS1n.1663A>G
c.550A>G (p.Lys184Glu)
n.2004A>G
n.1790A>G
c.1672A>G (p.Lys558Glu)
c.1783A>G (p.Lys595Glu)
c.1876A>G (p.Lys626Glu)
c.1762A>G (p.Lys588Glu)
c.1759A>G (p.Lys587Glu)
c.1612A>G (p.Lys538Glu)
c.718A>G (p.Lys240Glu)
dbSNP
2g.39022645T>GCA346365392SOS1n.1663A>C
c.550A>C (p.Lys184Gln)
n.2004A>C
n.1790A>C
c.1672A>C (p.Lys558Gln)
c.1783A>C (p.Lys595Gln)
c.1876A>C (p.Lys626Gln)
c.1762A>C (p.Lys588Gln)
c.1759A>C (p.Lys587Gln)
c.1612A>C (p.Lys538Gln)
c.718A>C (p.Lys240Gln)
2g.39022645T=CA1246139249SOS1n.1663A=
c.550A= (p.Lys184=)
n.2004A=
n.1790A=
c.1672A= (p.Lys558=)
c.1783A= (p.Lys595=)
c.1876A= (p.Lys626=)
c.1762A= (p.Lys588=)
c.1759A= (p.Lys587=)
c.1612A= (p.Lys538=)
c.718A= (p.Lys240=)
2g.39022646G>ACA425866698SOS1n.1662C>T
c.549C>T (p.Pro183=)
n.2003C>T
n.1789C>T
c.1671C>T (p.Pro557=)
c.1782C>T (p.Pro594=)
c.1875C>T (p.Pro625=)
c.1761C>T (p.Pro587=)
c.1758C>T (p.Pro586=)
c.1611C>T (p.Pro537=)
c.717C>T (p.Pro239=)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.39022646G>CCA425866699SOS1n.1662C>G
c.549C>G (p.Pro183=)
n.2003C>G
n.1789C>G
c.1671C>G (p.Pro557=)
c.1782C>G (p.Pro594=)
c.1875C>G (p.Pro625=)
c.1761C>G (p.Pro587=)
c.1758C>G (p.Pro586=)
c.1611C>G (p.Pro537=)
c.717C>G (p.Pro239=)
2g.39022646G=CA1246139251SOS1n.1662C=
c.549C= (p.Pro183=)
n.2003C=
n.1789C=
c.1671C= (p.Pro557=)
c.1782C= (p.Pro594=)
c.1875C= (p.Pro625=)
c.1761C= (p.Pro587=)
c.1758C= (p.Pro586=)
c.1611C= (p.Pro537=)
c.717C= (p.Pro239=)
2g.39022646G>TCA425866700SOS1n.1662C>A
c.549C>A (p.Pro183=)
n.2003C>A
n.1789C>A
c.1671C>A (p.Pro557=)
c.1782C>A (p.Pro594=)
c.1875C>A (p.Pro625=)
c.1761C>A (p.Pro587=)
c.1758C>A (p.Pro586=)
c.1611C>A (p.Pro537=)
c.717C>A (p.Pro239=)
2g.39022647G>ACA346365393SOS1n.1661C>T
c.548C>T (p.Pro183Leu)
n.2002C>T
n.1788C>T
c.1670C>T (p.Pro557Leu)
c.1781C>T (p.Pro594Leu)
c.1874C>T (p.Pro625Leu)
c.1760C>T (p.Pro587Leu)
c.1757C>T (p.Pro586Leu)
c.1610C>T (p.Pro537Leu)
c.716C>T (p.Pro239Leu)
2g.39022647G>CCA346365395SOS1n.1661C>G
c.548C>G (p.Pro183Arg)
n.2002C>G
n.1788C>G
c.1670C>G (p.Pro557Arg)
c.1781C>G (p.Pro594Arg)
c.1874C>G (p.Pro625Arg)
c.1760C>G (p.Pro587Arg)
c.1757C>G (p.Pro586Arg)
c.1610C>G (p.Pro537Arg)
c.716C>G (p.Pro239Arg)
2g.39022647G>TCA346365394SOS1n.1661C>A
c.548C>A (p.Pro183His)
n.2002C>A
n.1788C>A
c.1670C>A (p.Pro557His)
c.1781C>A (p.Pro594His)
c.1874C>A (p.Pro625His)
c.1760C>A (p.Pro587His)
c.1757C>A (p.Pro586His)
c.1610C>A (p.Pro537His)
c.716C>A (p.Pro239His)
2g.39022648G>ACA346365396SOS1n.1660C>T
c.547C>T (p.Pro183Ser)
n.2001C>T
n.1787C>T
c.1669C>T (p.Pro557Ser)
c.1780C>T (p.Pro594Ser)
c.1873C>T (p.Pro625Ser)
c.1759C>T (p.Pro587Ser)
c.1756C>T (p.Pro586Ser)
c.1609C>T (p.Pro537Ser)
c.715C>T (p.Pro239Ser)
2g.39022648G>CCA346365397SOS1n.1660C>G
c.547C>G (p.Pro183Ala)
n.2001C>G
n.1787C>G
c.1669C>G (p.Pro557Ala)
c.1780C>G (p.Pro594Ala)
c.1873C>G (p.Pro625Ala)
c.1759C>G (p.Pro587Ala)
c.1756C>G (p.Pro586Ala)
c.1609C>G (p.Pro537Ala)
c.715C>G (p.Pro239Ala)
2g.39022648G>TCA346365398SOS1n.1660C>A
c.547C>A (p.Pro183Thr)
n.2001C>A
n.1787C>A
c.1669C>A (p.Pro557Thr)
c.1780C>A (p.Pro594Thr)
c.1873C>A (p.Pro625Thr)
c.1759C>A (p.Pro587Thr)
c.1756C>A (p.Pro586Thr)
c.1609C>A (p.Pro537Thr)
c.715C>A (p.Pro239Thr)
2g.39022649C>ACA346365399SOS1n.1659G>T
c.546G>T (p.Gln182His)
n.2000G>T
n.1786G>T
c.1668G>T (p.Gln556His)
c.1779G>T (p.Gln593His)
c.1872G>T (p.Gln624His)
c.1758G>T (p.Gln586His)
c.1755G>T (p.Gln585His)
c.1608G>T (p.Gln536His)
c.714G>T (p.Gln238His)
2g.39022649C>GCA346365400SOS1n.1659G>C
c.546G>C (p.Gln182His)
n.2000G>C
n.1786G>C
c.1668G>C (p.Gln556His)
c.1779G>C (p.Gln593His)
c.1872G>C (p.Gln624His)
c.1758G>C (p.Gln586His)
c.1755G>C (p.Gln585His)
c.1608G>C (p.Gln536His)
c.714G>C (p.Gln238His)
2g.39022649C>TCA425866701SOS1n.1659G>A
c.546G>A (p.Gln182=)
n.2000G>A
n.1786G>A
c.1668G>A (p.Gln556=)
c.1779G>A (p.Gln593=)
c.1872G>A (p.Gln624=)
c.1758G>A (p.Gln586=)
c.1755G>A (p.Gln585=)
c.1608G>A (p.Gln536=)
c.714G>A (p.Gln238=)
2g.39022650T>ACA346365401SOS1n.1658A>T
c.545A>T (p.Gln182Leu)
n.1999A>T
n.1785A>T
c.1667A>T (p.Gln556Leu)
c.1778A>T (p.Gln593Leu)
c.1871A>T (p.Gln624Leu)
c.1757A>T (p.Gln586Leu)
c.1754A>T (p.Gln585Leu)
c.1607A>T (p.Gln536Leu)
c.713A>T (p.Gln238Leu)
2g.39022650T>CCA346365402SOS1n.1658A>G
c.545A>G (p.Gln182Arg)
n.1999A>G
n.1785A>G
c.1667A>G (p.Gln556Arg)
c.1778A>G (p.Gln593Arg)
c.1871A>G (p.Gln624Arg)
c.1757A>G (p.Gln586Arg)
c.1754A>G (p.Gln585Arg)
c.1607A>G (p.Gln536Arg)
c.713A>G (p.Gln238Arg)
2g.39022650T>GCA346365403SOS1n.1658A>C
c.545A>C (p.Gln182Pro)
n.1999A>C
n.1785A>C
c.1667A>C (p.Gln556Pro)
c.1778A>C (p.Gln593Pro)
c.1871A>C (p.Gln624Pro)
c.1757A>C (p.Gln586Pro)
c.1754A>C (p.Gln585Pro)
c.1607A>C (p.Gln536Pro)
c.713A>C (p.Gln238Pro)
2g.39022651G>ACA346365404SOS1n.1657C>T
c.544C>T (p.Gln182Ter)
n.1998C>T
n.1784C>T
c.1666C>T (p.Gln556Ter)
c.1777C>T (p.Gln593Ter)
c.1870C>T (p.Gln624Ter)
c.1756C>T (p.Gln586Ter)
c.1753C>T (p.Gln585Ter)
c.1606C>T (p.Gln536Ter)
c.712C>T (p.Gln238Ter)
2g.39022651G>CCA346365405SOS1n.1657C>G
c.544C>G (p.Gln182Glu)
n.1998C>G
n.1784C>G
c.1666C>G (p.Gln556Glu)
c.1777C>G (p.Gln593Glu)
c.1870C>G (p.Gln624Glu)
c.1756C>G (p.Gln586Glu)
c.1753C>G (p.Gln585Glu)
c.1606C>G (p.Gln536Glu)
c.712C>G (p.Gln238Glu)
2g.39022651G=CA1246139256SOS1n.1657C=
c.544C= (p.Gln182=)
n.1998C=
n.1784C=
c.1666C= (p.Gln556=)
c.1777C= (p.Gln593=)
c.1870C= (p.Gln624=)
c.1756C= (p.Gln586=)
c.1753C= (p.Gln585=)
c.1606C= (p.Gln536=)
c.712C= (p.Gln238=)
2g.39022651G>TCA346365406SOS1n.1657C>A
c.544C>A (p.Gln182Lys)
n.1998C>A
n.1784C>A
c.1666C>A (p.Gln556Lys)
c.1777C>A (p.Gln593Lys)
c.1870C>A (p.Gln624Lys)
c.1756C>A (p.Gln586Lys)
c.1753C>A (p.Gln585Lys)
c.1606C>A (p.Gln536Lys)
c.712C>A (p.Gln238Lys)
dbSNP
2g.39022652C>ACA346365407SOS1n.1656G>T
c.543G>T (p.Met181Ile)
n.1997G>T
n.1783G>T
c.1665G>T (p.Met555Ile)
c.1776G>T (p.Met592Ile)
c.1869G>T (p.Met623Ile)
c.1755G>T (p.Met585Ile)
c.1752G>T (p.Met584Ile)
c.1605G>T (p.Met535Ile)
c.711G>T (p.Met237Ile)
2g.39022652C>GCA346365409SOS1n.1656G>C
c.543G>C (p.Met181Ile)
n.1997G>C
n.1783G>C
c.1665G>C (p.Met555Ile)
c.1776G>C (p.Met592Ile)
c.1869G>C (p.Met623Ile)
c.1755G>C (p.Met585Ile)
c.1752G>C (p.Met584Ile)
c.1605G>C (p.Met535Ile)
c.711G>C (p.Met237Ile)
2g.39022652C>TCA346365408SOS1n.1656G>A
c.543G>A (p.Met181Ile)
n.1997G>A
n.1783G>A
c.1665G>A (p.Met555Ile)
c.1776G>A (p.Met592Ile)
c.1869G>A (p.Met623Ile)
c.1755G>A (p.Met585Ile)
c.1752G>A (p.Met584Ile)
c.1605G>A (p.Met535Ile)
c.711G>A (p.Met237Ile)
2g.39022653A=CA1246139258SOS1n.1655T=
c.542T= (p.Met181=)
n.1996T=
n.1782T=
c.1664T= (p.Met555=)
c.1775T= (p.Met592=)
c.1868T= (p.Met623=)
c.1754T= (p.Met585=)
c.1751T= (p.Met584=)
c.1604T= (p.Met535=)
c.710T= (p.Met237=)
2g.39022653A>CCA346365410SOS1n.1655T>G
c.542T>G (p.Met181Arg)
n.1996T>G
n.1782T>G
c.1664T>G (p.Met555Arg)
c.1775T>G (p.Met592Arg)
c.1868T>G (p.Met623Arg)
c.1754T>G (p.Met585Arg)
c.1751T>G (p.Met584Arg)
c.1604T>G (p.Met535Arg)
c.710T>G (p.Met237Arg)
2g.39022653A>GCA45674385SOS1n.1655T>C
c.542T>C (p.Met181Thr)
n.1996T>C
n.1782T>C
c.1664T>C (p.Met555Thr)
c.1775T>C (p.Met592Thr)
c.1868T>C (p.Met623Thr)
c.1754T>C (p.Met585Thr)
c.1751T>C (p.Met584Thr)
c.1604T>C (p.Met535Thr)
c.710T>C (p.Met237Thr)
dbSNP
2g.39022653A>TCA346365411SOS1n.1655T>A
c.542T>A (p.Met181Lys)
n.1996T>A
n.1782T>A
c.1664T>A (p.Met555Lys)
c.1775T>A (p.Met592Lys)
c.1868T>A (p.Met623Lys)
c.1754T>A (p.Met585Lys)
c.1751T>A (p.Met584Lys)
c.1604T>A (p.Met535Lys)
c.710T>A (p.Met237Lys)
2g.39022655_39022672dupCA2580611264SOS1n.1638_1655dup
c.525_542dup (p.Asn180_Met181insIleIlePheGluGluAsn)
n.1979_1996dup
n.1765_1782dup
c.1647_1664dup (p.Asn554_Met555insIleIlePheGluGluAsn)
c.1758_1775dup (p.Asn591_Met592insIleIlePheGluGluAsn)
c.1851_1868dup (p.Asn622_Met623insIleIlePheGluGluAsn)
c.1737_1754dup (p.Asn584_Met585insIleIlePheGluGluAsn)
c.1734_1751dup (p.Asn583_Met584insIleIlePheGluGluAsn)
c.1587_1604dup (p.Asn534_Met535insIleIlePheGluGluAsn)
c.693_710dup (p.Asn236_Met237insIleIlePheGluGluAsn)
ClinVar
2g.39022654T>ACA346365412SOS1n.1654A>T
c.541A>T (p.Met181Leu)
n.1995A>T
n.1781A>T
c.1663A>T (p.Met555Leu)
c.1774A>T (p.Met592Leu)
c.1867A>T (p.Met623Leu)
c.1753A>T (p.Met585Leu)
c.1750A>T (p.Met584Leu)
c.1603A>T (p.Met535Leu)
c.709A>T (p.Met237Leu)
2g.39022654T>CCA346365413SOS1n.1654A>G
c.541A>G (p.Met181Val)
n.1995A>G
n.1781A>G
c.1663A>G (p.Met555Val)
c.1774A>G (p.Met592Val)
c.1867A>G (p.Met623Val)
c.1753A>G (p.Met585Val)
c.1750A>G (p.Met584Val)
c.1603A>G (p.Met535Val)
c.709A>G (p.Met237Val)
2g.39022654T>GCA346365414SOS1n.1654A>C
c.541A>C (p.Met181Leu)
n.1995A>C
n.1781A>C
c.1663A>C (p.Met555Leu)
c.1774A>C (p.Met592Leu)
c.1867A>C (p.Met623Leu)
c.1753A>C (p.Met585Leu)
c.1750A>C (p.Met584Leu)
c.1603A>C (p.Met535Leu)
c.709A>C (p.Met237Leu)
dbSNP gnomAD v4
2g.39022654T=CA1246139261SOS1n.1654A=
c.541A= (p.Met181=)
n.1995A=
n.1781A=
c.1663A= (p.Met555=)
c.1774A= (p.Met592=)
c.1867A= (p.Met623=)
c.1753A= (p.Met585=)
c.1750A= (p.Met584=)
c.1603A= (p.Met535=)
c.709A= (p.Met237=)
2g.39022655G>ACA425866702SOS1n.1653C>T
c.540C>T (p.Asn180=)
n.1994C>T
n.1780C>T
c.1662C>T (p.Asn554=)
c.1773C>T (p.Asn591=)
c.1866C>T (p.Asn622=)
c.1752C>T (p.Asn584=)
c.1749C>T (p.Asn583=)
c.1602C>T (p.Asn534=)
c.708C>T (p.Asn236=)
ClinVar dbSNP
2g.39022655G>CCA346365415SOS1n.1653C>G
c.540C>G (p.Asn180Lys)
n.1994C>G
n.1780C>G
c.1662C>G (p.Asn554Lys)
c.1773C>G (p.Asn591Lys)
c.1866C>G (p.Asn622Lys)
c.1752C>G (p.Asn584Lys)
c.1749C>G (p.Asn583Lys)
c.1602C>G (p.Asn534Lys)
c.708C>G (p.Asn236Lys)
2g.39022655G=CA1246139265SOS1n.1653C=
c.540C= (p.Asn180=)
n.1994C=
n.1780C=
c.1662C= (p.Asn554=)
c.1773C= (p.Asn591=)
c.1866C= (p.Asn622=)
c.1752C= (p.Asn584=)
c.1749C= (p.Asn583=)
c.1602C= (p.Asn534=)
c.708C= (p.Asn236=)
2g.39022655G>TCA346365416SOS1n.1653C>A
c.540C>A (p.Asn180Lys)
n.1994C>A
n.1780C>A
c.1662C>A (p.Asn554Lys)
c.1773C>A (p.Asn591Lys)
c.1866C>A (p.Asn622Lys)
c.1752C>A (p.Asn584Lys)
c.1749C>A (p.Asn583Lys)
c.1602C>A (p.Asn534Lys)
c.708C>A (p.Asn236Lys)
gnomAD v4
2g.39022656T>ACA346365417SOS1n.1652A>T
c.539A>T (p.Asn180Ile)
n.1993A>T
n.1779A>T
c.1661A>T (p.Asn554Ile)
c.1772A>T (p.Asn591Ile)
c.1865A>T (p.Asn622Ile)
c.1751A>T (p.Asn584Ile)
c.1748A>T (p.Asn583Ile)
c.1601A>T (p.Asn534Ile)
c.707A>T (p.Asn236Ile)
2g.39022656T>CCA1624554SOS1n.1652A>G
c.539A>G (p.Asn180Ser)
n.1993A>G
n.1779A>G
c.1661A>G (p.Asn554Ser)
c.1772A>G (p.Asn591Ser)
c.1865A>G (p.Asn622Ser)
c.1751A>G (p.Asn584Ser)
c.1748A>G (p.Asn583Ser)
c.1601A>G (p.Asn534Ser)
c.707A>G (p.Asn236Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.39022656T>GCA346365418SOS1n.1652A>C
c.539A>C (p.Asn180Thr)
n.1993A>C
n.1779A>C
c.1661A>C (p.Asn554Thr)
c.1772A>C (p.Asn591Thr)
c.1865A>C (p.Asn622Thr)
c.1751A>C (p.Asn584Thr)
c.1748A>C (p.Asn583Thr)
c.1601A>C (p.Asn534Thr)
c.707A>C (p.Asn236Thr)
2g.39022656T=CA1246139272SOS1n.1652A=
c.539A= (p.Asn180=)
n.1993A=
n.1779A=
c.1661A= (p.Asn554=)
c.1772A= (p.Asn591=)
c.1865A= (p.Asn622=)
c.1751A= (p.Asn584=)
c.1748A= (p.Asn583=)
c.1601A= (p.Asn534=)
c.707A= (p.Asn236=)
2g.39022657T>ACA346365419SOS1n.1651A>T
c.538A>T (p.Asn180Tyr)
n.1992A>T
n.1778A>T
c.1660A>T (p.Asn554Tyr)
c.1771A>T (p.Asn591Tyr)
c.1864A>T (p.Asn622Tyr)
c.1750A>T (p.Asn584Tyr)
c.1747A>T (p.Asn583Tyr)
c.1600A>T (p.Asn534Tyr)
c.706A>T (p.Asn236Tyr)
COSMIC
2g.39022657T>CCA346365420SOS1n.1651A>G
c.538A>G (p.Asn180Asp)
n.1992A>G
n.1778A>G
c.1660A>G (p.Asn554Asp)
c.1771A>G (p.Asn591Asp)
c.1864A>G (p.Asn622Asp)
c.1750A>G (p.Asn584Asp)
c.1747A>G (p.Asn583Asp)
c.1600A>G (p.Asn534Asp)
c.706A>G (p.Asn236Asp)
2g.39022657T>GCA346365421SOS1n.1651A>C
c.538A>C (p.Asn180His)
n.1992A>C
n.1778A>C
c.1660A>C (p.Asn554His)
c.1771A>C (p.Asn591His)
c.1864A>C (p.Asn622His)
c.1750A>C (p.Asn584His)
c.1747A>C (p.Asn583His)
c.1600A>C (p.Asn534His)
c.706A>C (p.Asn236His)
2g.39022658C>ACA346365423SOS1n.1650G>T
c.537G>T (p.Glu179Asp)
n.1991G>T
n.1777G>T
c.1659G>T (p.Glu553Asp)
c.1770G>T (p.Glu590Asp)
c.1863G>T (p.Glu621Asp)
c.1749G>T (p.Glu583Asp)
c.1746G>T (p.Glu582Asp)
c.1599G>T (p.Glu533Asp)
c.705G>T (p.Glu235Asp)
2g.39022658C=CA1246139278SOS1n.1650G=
c.537G= (p.Glu179=)
n.1991G=
n.1777G=
c.1659G= (p.Glu553=)
c.1770G= (p.Glu590=)
c.1863G= (p.Glu621=)
c.1749G= (p.Glu583=)
c.1746G= (p.Glu582=)
c.1599G= (p.Glu533=)
c.705G= (p.Glu235=)
2g.39022658C>GCA346365422SOS1n.1650G>C
c.537G>C (p.Glu179Asp)
n.1991G>C
n.1777G>C
c.1659G>C (p.Glu553Asp)
c.1770G>C (p.Glu590Asp)
c.1863G>C (p.Glu621Asp)
c.1749G>C (p.Glu583Asp)
c.1746G>C (p.Glu582Asp)
c.1599G>C (p.Glu533Asp)
c.705G>C (p.Glu235Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022658C>TCA1624555SOS1n.1650G>A
c.537G>A (p.Glu179=)
n.1991G>A
n.1777G>A
c.1659G>A (p.Glu553=)
c.1770G>A (p.Glu590=)
c.1863G>A (p.Glu621=)
c.1749G>A (p.Glu583=)
c.1746G>A (p.Glu582=)
c.1599G>A (p.Glu533=)
c.705G>A (p.Glu235=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.39022659T>ACA346365424SOS1n.1649A>T
c.536A>T (p.Glu179Val)
n.1990A>T
n.1776A>T
c.1658A>T (p.Glu553Val)
c.1769A>T (p.Glu590Val)
c.1862A>T (p.Glu621Val)
c.1748A>T (p.Glu583Val)
c.1745A>T (p.Glu582Val)
c.1598A>T (p.Glu533Val)
c.704A>T (p.Glu235Val)
2g.39022659T>CCA346365425SOS1n.1649A>G
c.536A>G (p.Glu179Gly)
n.1990A>G
n.1776A>G
c.1658A>G (p.Glu553Gly)
c.1769A>G (p.Glu590Gly)
c.1862A>G (p.Glu621Gly)
c.1748A>G (p.Glu583Gly)
c.1745A>G (p.Glu582Gly)
c.1598A>G (p.Glu533Gly)
c.704A>G (p.Glu235Gly)
2g.39022659T>GCA346365426SOS1n.1649A>C
c.536A>C (p.Glu179Ala)
n.1990A>C
n.1776A>C
c.1658A>C (p.Glu553Ala)
c.1769A>C (p.Glu590Ala)
c.1862A>C (p.Glu621Ala)
c.1748A>C (p.Glu583Ala)
c.1745A>C (p.Glu582Ala)
c.1598A>C (p.Glu533Ala)
c.704A>C (p.Glu235Ala)
2g.39022660C>ACA346365427SOS1n.1648G>T
c.535G>T (p.Glu179Ter)
n.1989G>T
n.1775G>T
c.1657G>T (p.Glu553Ter)
c.1768G>T (p.Glu590Ter)
c.1861G>T (p.Glu621Ter)
c.1747G>T (p.Glu583Ter)
c.1744G>T (p.Glu582Ter)
c.1597G>T (p.Glu533Ter)
c.703G>T (p.Glu235Ter)
2g.39022660C=CA1246139282SOS1n.1648G=
c.535G= (p.Glu179=)
n.1989G=
n.1775G=
c.1657G= (p.Glu553=)
c.1768G= (p.Glu590=)
c.1861G= (p.Glu621=)
c.1747G= (p.Glu583=)
c.1744G= (p.Glu582=)
c.1597G= (p.Glu533=)
c.703G= (p.Glu235=)
2g.39022660C>GCA297275SOS1n.1648G>C
c.535G>C (p.Glu179Gln)
n.1989G>C
n.1775G>C
c.1657G>C (p.Glu553Gln)
c.1768G>C (p.Glu590Gln)
c.1861G>C (p.Glu621Gln)
c.1747G>C (p.Glu583Gln)
c.1744G>C (p.Glu582Gln)
c.1597G>C (p.Glu533Gln)
c.703G>C (p.Glu235Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.39022660C>TCA346365428SOS1n.1648G>A
c.535G>A (p.Glu179Lys)
n.1989G>A
n.1775G>A
c.1657G>A (p.Glu553Lys)
c.1768G>A (p.Glu590Lys)
c.1861G>A (p.Glu621Lys)
c.1747G>A (p.Glu583Lys)
c.1744G>A (p.Glu582Lys)
c.1597G>A (p.Glu533Lys)
c.703G>A (p.Glu235Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022661T>ACA346365429SOS1n.1647A>T
c.534A>T (p.Glu178Asp)
n.1988A>T
n.1774A>T
c.1656A>T (p.Glu552Asp)
c.1767A>T (p.Glu589Asp)
c.1860A>T (p.Glu620Asp)
c.1746A>T (p.Glu582Asp)
c.1743A>T (p.Glu581Asp)
c.1596A>T (p.Glu532Asp)
c.702A>T (p.Glu234Asp)
2g.39022661T>CCA425866703SOS1n.1647A>G
c.534A>G (p.Glu178=)
n.1988A>G
n.1774A>G
c.1656A>G (p.Glu552=)
c.1767A>G (p.Glu589=)
c.1860A>G (p.Glu620=)
c.1746A>G (p.Glu582=)
c.1743A>G (p.Glu581=)
c.1596A>G (p.Glu532=)
c.702A>G (p.Glu234=)
2g.39022661T>GCA346365430SOS1n.1647A>C
c.534A>C (p.Glu178Asp)
n.1988A>C
n.1774A>C
c.1656A>C (p.Glu552Asp)
c.1767A>C (p.Glu589Asp)
c.1860A>C (p.Glu620Asp)
c.1746A>C (p.Glu582Asp)
c.1743A>C (p.Glu581Asp)
c.1596A>C (p.Glu532Asp)
c.702A>C (p.Glu234Asp)
2g.39022662T>ACA346365431SOS1n.1646A>T
c.533A>T (p.Glu178Val)
n.1987A>T
n.1773A>T
c.1655A>T (p.Glu552Val)
c.1766A>T (p.Glu589Val)
c.1859A>T (p.Glu620Val)
c.1745A>T (p.Glu582Val)
c.1742A>T (p.Glu581Val)
c.1595A>T (p.Glu532Val)
c.701A>T (p.Glu234Val)
2g.39022662T>CCA346365432SOS1n.1646A>G
c.533A>G (p.Glu178Gly)
n.1987A>G
n.1773A>G
c.1655A>G (p.Glu552Gly)
c.1766A>G (p.Glu589Gly)
c.1859A>G (p.Glu620Gly)
c.1745A>G (p.Glu582Gly)
c.1742A>G (p.Glu581Gly)
c.1595A>G (p.Glu532Gly)
c.701A>G (p.Glu234Gly)
2g.39022662T>GCA346365433SOS1n.1646A>C
c.533A>C (p.Glu178Ala)
n.1987A>C
n.1773A>C
c.1655A>C (p.Glu552Ala)
c.1766A>C (p.Glu589Ala)
c.1859A>C (p.Glu620Ala)
c.1745A>C (p.Glu582Ala)
c.1742A>C (p.Glu581Ala)
c.1595A>C (p.Glu532Ala)
c.701A>C (p.Glu234Ala)
gnomAD v4
2g.39022663C>ACA346365435SOS1n.1645G>T
c.532G>T (p.Glu178Ter)
n.1986G>T
n.1772G>T
c.1654G>T (p.Glu552Ter)
c.1765G>T (p.Glu589Ter)
c.1858G>T (p.Glu620Ter)
c.1744G>T (p.Glu582Ter)
c.1741G>T (p.Glu581Ter)
c.1594G>T (p.Glu532Ter)
c.700G>T (p.Glu234Ter)
2g.39022663C>GCA346365436SOS1n.1645G>C
c.532G>C (p.Glu178Gln)
n.1986G>C
n.1772G>C
c.1654G>C (p.Glu552Gln)
c.1765G>C (p.Glu589Gln)
c.1858G>C (p.Glu620Gln)
c.1744G>C (p.Glu582Gln)
c.1741G>C (p.Glu581Gln)
c.1594G>C (p.Glu532Gln)
c.700G>C (p.Glu234Gln)
2g.39022663C>TCA346365434SOS1n.1645G>A
c.532G>A (p.Glu178Lys)
n.1986G>A
n.1772G>A
c.1654G>A (p.Glu552Lys)
c.1765G>A (p.Glu589Lys)
c.1858G>A (p.Glu620Lys)
c.1744G>A (p.Glu582Lys)
c.1741G>A (p.Glu581Lys)
c.1594G>A (p.Glu532Lys)
c.700G>A (p.Glu234Lys)
2g.39022664A>CCA346365437SOS1n.1644T>G
c.531T>G (p.Phe177Leu)
n.1985T>G
n.1771T>G
c.1653T>G (p.Phe551Leu)
c.1764T>G (p.Phe588Leu)
c.1857T>G (p.Phe619Leu)
c.1743T>G (p.Phe581Leu)
c.1740T>G (p.Phe580Leu)
c.1593T>G (p.Phe531Leu)
c.699T>G (p.Phe233Leu)
2g.39022664A>GCA425866704SOS1n.1644T>C
c.531T>C (p.Phe177=)
n.1985T>C
n.1771T>C
c.1653T>C (p.Phe551=)
c.1764T>C (p.Phe588=)
c.1857T>C (p.Phe619=)
c.1743T>C (p.Phe581=)
c.1740T>C (p.Phe580=)
c.1593T>C (p.Phe531=)
c.699T>C (p.Phe233=)
2g.39022664A>TCA346365438SOS1n.1644T>A
c.531T>A (p.Phe177Leu)
n.1985T>A
n.1771T>A
c.1653T>A (p.Phe551Leu)
c.1764T>A (p.Phe588Leu)
c.1857T>A (p.Phe619Leu)
c.1743T>A (p.Phe581Leu)
c.1740T>A (p.Phe580Leu)
c.1593T>A (p.Phe531Leu)
c.699T>A (p.Phe233Leu)
2g.39022665A>CCA346365439SOS1n.1643T>G
c.530T>G (p.Phe177Cys)
n.1984T>G
n.1770T>G
c.1652T>G (p.Phe551Cys)
c.1763T>G (p.Phe588Cys)
c.1856T>G (p.Phe619Cys)
c.1742T>G (p.Phe581Cys)
c.1739T>G (p.Phe580Cys)
c.1592T>G (p.Phe531Cys)
c.698T>G (p.Phe233Cys)
2g.39022665A>GCA346365440SOS1n.1643T>C
c.530T>C (p.Phe177Ser)
n.1984T>C
n.1770T>C
c.1652T>C (p.Phe551Ser)
c.1763T>C (p.Phe588Ser)
c.1856T>C (p.Phe619Ser)
c.1742T>C (p.Phe581Ser)
c.1739T>C (p.Phe580Ser)
c.1592T>C (p.Phe531Ser)
c.698T>C (p.Phe233Ser)
2g.39022665A>TCA346365441SOS1n.1643T>A
c.530T>A (p.Phe177Tyr)
n.1984T>A
n.1770T>A
c.1652T>A (p.Phe551Tyr)
c.1763T>A (p.Phe588Tyr)
c.1856T>A (p.Phe619Tyr)
c.1742T>A (p.Phe581Tyr)
c.1739T>A (p.Phe580Tyr)
c.1592T>A (p.Phe531Tyr)
c.698T>A (p.Phe233Tyr)
2g.39022666A=CA1246139286SOS1n.1642T=
c.529T= (p.Phe177=)
n.1983T=
n.1769T=
c.1651T= (p.Phe551=)
c.1762T= (p.Phe588=)
c.1855T= (p.Phe619=)
c.1741T= (p.Phe581=)
c.1738T= (p.Phe580=)
c.1591T= (p.Phe531=)
c.697T= (p.Phe233=)
2g.39022666A>CCA346365442SOS1n.1642T>G
c.529T>G (p.Phe177Val)
n.1983T>G
n.1769T>G
c.1651T>G (p.Phe551Val)
c.1762T>G (p.Phe588Val)
c.1855T>G (p.Phe619Val)
c.1741T>G (p.Phe581Val)
c.1738T>G (p.Phe580Val)
c.1591T>G (p.Phe531Val)
c.697T>G (p.Phe233Val)
2g.39022666A>GCA1624556SOS1n.1642T>C
c.529T>C (p.Phe177Leu)
n.1983T>C
n.1769T>C
c.1651T>C (p.Phe551Leu)
c.1762T>C (p.Phe588Leu)
c.1855T>C (p.Phe619Leu)
c.1741T>C (p.Phe581Leu)
c.1738T>C (p.Phe580Leu)
c.1591T>C (p.Phe531Leu)
c.697T>C (p.Phe233Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.39022666A>TCA346365443SOS1n.1642T>A
c.529T>A (p.Phe177Ile)
n.1983T>A
n.1769T>A
c.1651T>A (p.Phe551Ile)
c.1762T>A (p.Phe588Ile)
c.1855T>A (p.Phe619Ile)
c.1741T>A (p.Phe581Ile)
c.1738T>A (p.Phe580Ile)
c.1591T>A (p.Phe531Ile)
c.697T>A (p.Phe233Ile)
2g.39022667T>ACA425866705SOS1n.1641A>T
c.528A>T (p.Ile176=)
n.1982A>T
n.1768A>T
c.1650A>T (p.Ile550=)
c.1761A>T (p.Ile587=)
c.1854A>T (p.Ile618=)
c.1740A>T (p.Ile580=)
c.1737A>T (p.Ile579=)
c.1590A>T (p.Ile530=)
c.696A>T (p.Ile232=)
2g.39022667T>CCA346365444SOS1n.1641A>G
c.528A>G (p.Ile176Met)
n.1982A>G
n.1768A>G
c.1650A>G (p.Ile550Met)
c.1761A>G (p.Ile587Met)
c.1854A>G (p.Ile618Met)
c.1740A>G (p.Ile580Met)
c.1737A>G (p.Ile579Met)
c.1590A>G (p.Ile530Met)
c.696A>G (p.Ile232Met)
2g.39022667T>GCA425866706SOS1n.1641A>C
c.528A>C (p.Ile176=)
n.1982A>C
n.1768A>C
c.1650A>C (p.Ile550=)
c.1761A>C (p.Ile587=)
c.1854A>C (p.Ile618=)
c.1740A>C (p.Ile580=)
c.1737A>C (p.Ile579=)
c.1590A>C (p.Ile530=)
c.696A>C (p.Ile232=)
2g.39022668A=CA1246139294SOS1n.1640T=
c.527T= (p.Ile176=)
n.1981T=
n.1767T=
c.1649T= (p.Ile550=)
c.1760T= (p.Ile587=)
c.1853T= (p.Ile618=)
c.1739T= (p.Ile580=)
c.1736T= (p.Ile579=)
c.1589T= (p.Ile530=)
c.695T= (p.Ile232=)
2g.39022668A>CCA346365445SOS1n.1640T>G
c.527T>G (p.Ile176Arg)
n.1981T>G
n.1767T>G
c.1649T>G (p.Ile550Arg)
c.1760T>G (p.Ile587Arg)
c.1853T>G (p.Ile618Arg)
c.1739T>G (p.Ile580Arg)
c.1736T>G (p.Ile579Arg)
c.1589T>G (p.Ile530Arg)
c.695T>G (p.Ile232Arg)
2g.39022668A>GCA346365446SOS1n.1640T>C
c.527T>C (p.Ile176Thr)
n.1981T>C
n.1767T>C
c.1649T>C (p.Ile550Thr)
c.1760T>C (p.Ile587Thr)
c.1853T>C (p.Ile618Thr)
c.1739T>C (p.Ile580Thr)
c.1736T>C (p.Ile579Thr)
c.1589T>C (p.Ile530Thr)
c.695T>C (p.Ile232Thr)
ClinVar dbSNP
2g.39022668A>TCA346365447SOS1n.1640T>A
c.527T>A (p.Ile176Lys)
n.1981T>A
n.1767T>A
c.1649T>A (p.Ile550Lys)
c.1760T>A (p.Ile587Lys)
c.1853T>A (p.Ile618Lys)
c.1739T>A (p.Ile580Lys)
c.1736T>A (p.Ile579Lys)
c.1589T>A (p.Ile530Lys)
c.695T>A (p.Ile232Lys)
2g.39022669T>ACA346365449SOS1n.1639A>T
c.526A>T (p.Ile176Leu)
n.1980A>T
n.1766A>T
c.1648A>T (p.Ile550Leu)
c.1759A>T (p.Ile587Leu)
c.1852A>T (p.Ile618Leu)
c.1738A>T (p.Ile580Leu)
c.1735A>T (p.Ile579Leu)
c.1588A>T (p.Ile530Leu)
c.694A>T (p.Ile232Leu)
2g.39022669T>CCA346365450SOS1n.1639A>G
c.526A>G (p.Ile176Val)
n.1980A>G
n.1766A>G
c.1648A>G (p.Ile550Val)
c.1759A>G (p.Ile587Val)
c.1852A>G (p.Ile618Val)
c.1738A>G (p.Ile580Val)
c.1735A>G (p.Ile579Val)
c.1588A>G (p.Ile530Val)
c.694A>G (p.Ile232Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.39022669T>GCA346365448SOS1n.1639A>C
c.526A>C (p.Ile176Leu)
n.1980A>C
n.1766A>C
c.1648A>C (p.Ile550Leu)
c.1759A>C (p.Ile587Leu)
c.1852A>C (p.Ile618Leu)
c.1738A>C (p.Ile580Leu)
c.1735A>C (p.Ile579Leu)
c.1588A>C (p.Ile530Leu)
c.694A>C (p.Ile232Leu)
2g.39022669T=CA1246139297SOS1n.1639A=
c.526A= (p.Ile176=)
n.1980A=
n.1766A=
c.1648A= (p.Ile550=)
c.1759A= (p.Ile587=)
c.1852A= (p.Ile618=)
c.1738A= (p.Ile580=)
c.1735A= (p.Ile579=)
c.1588A= (p.Ile530=)
c.694A= (p.Ile232=)
2g.39022670A>CCA346365451SOS1n.1638T>G
c.525T>G (p.Ile175Met)
n.1979T>G
n.1765T>G
c.1647T>G (p.Ile549Met)
c.1758T>G (p.Ile586Met)
c.1851T>G (p.Ile617Met)
c.1737T>G (p.Ile579Met)
c.1734T>G (p.Ile578Met)
c.1587T>G (p.Ile529Met)
c.693T>G (p.Ile231Met)
2g.39022670A>GCA425866707SOS1n.1638T>C
c.525T>C (p.Ile175=)
n.1979T>C
n.1765T>C
c.1647T>C (p.Ile549=)
c.1758T>C (p.Ile586=)
c.1851T>C (p.Ile617=)
c.1737T>C (p.Ile579=)
c.1734T>C (p.Ile578=)
c.1587T>C (p.Ile529=)
c.693T>C (p.Ile231=)
2g.39022670A>TCA425866708SOS1n.1638T>A
c.525T>A (p.Ile175=)
n.1979T>A
n.1765T>A
c.1647T>A (p.Ile549=)
c.1758T>A (p.Ile586=)
c.1851T>A (p.Ile617=)
c.1737T>A (p.Ile579=)
c.1734T>A (p.Ile578=)
c.1587T>A (p.Ile529=)
c.693T>A (p.Ile231=)
ClinVar dbSNP
2g.39022671A>CCA346365452SOS1n.1637T>G
c.524T>G (p.Ile175Ser)
n.1978T>G
n.1764T>G
c.1646T>G (p.Ile549Ser)
c.1757T>G (p.Ile586Ser)
c.1850T>G (p.Ile617Ser)
c.1736T>G (p.Ile579Ser)
c.1733T>G (p.Ile578Ser)
c.1586T>G (p.Ile529Ser)
c.692T>G (p.Ile231Ser)
2g.39022671A>GCA346365453SOS1n.1637T>C
c.524T>C (p.Ile175Thr)
n.1978T>C
n.1764T>C
c.1646T>C (p.Ile549Thr)
c.1757T>C (p.Ile586Thr)
c.1850T>C (p.Ile617Thr)
c.1736T>C (p.Ile579Thr)
c.1733T>C (p.Ile578Thr)
c.1586T>C (p.Ile529Thr)
c.692T>C (p.Ile231Thr)
2g.39022671A>TCA346365454SOS1n.1637T>A
c.524T>A (p.Ile175Asn)
n.1978T>A
n.1764T>A
c.1646T>A (p.Ile549Asn)
c.1757T>A (p.Ile586Asn)
c.1850T>A (p.Ile617Asn)
c.1736T>A (p.Ile579Asn)
c.1733T>A (p.Ile578Asn)
c.1586T>A (p.Ile529Asn)
c.692T>A (p.Ile231Asn)
2g.39022672T>ACA346365455SOS1n.1636A>T
c.523A>T (p.Ile175Phe)
n.1977A>T
n.1763A>T
c.1645A>T (p.Ile549Phe)
c.1756A>T (p.Ile586Phe)
c.1849A>T (p.Ile617Phe)
c.1735A>T (p.Ile579Phe)
c.1732A>T (p.Ile578Phe)
c.1585A>T (p.Ile529Phe)
c.691A>T (p.Ile231Phe)
2g.39022672T>CCA346365456SOS1n.1636A>G
c.523A>G (p.Ile175Val)
n.1977A>G
n.1763A>G
c.1645A>G (p.Ile549Val)
c.1756A>G (p.Ile586Val)
c.1849A>G (p.Ile617Val)
c.1735A>G (p.Ile579Val)
c.1732A>G (p.Ile578Val)
c.1585A>G (p.Ile529Val)
c.691A>G (p.Ile231Val)
gnomAD v4
2g.39022672T>GCA346365457SOS1n.1636A>C
c.523A>C (p.Ile175Leu)
n.1977A>C
n.1763A>C
c.1645A>C (p.Ile549Leu)
c.1756A>C (p.Ile586Leu)
c.1849A>C (p.Ile617Leu)
c.1735A>C (p.Ile579Leu)
c.1732A>C (p.Ile578Leu)
c.1585A>C (p.Ile529Leu)
c.691A>C (p.Ile231Leu)
2g.39022673A>CCA346365458SOS1n.1635T>G
c.522T>G (p.Asn174Lys)
n.1976T>G
n.1762T>G
c.1644T>G (p.Asn548Lys)
c.1755T>G (p.Asn585Lys)
c.1848T>G (p.Asn616Lys)
c.1734T>G (p.Asn578Lys)
c.1731T>G (p.Asn577Lys)
c.1584T>G (p.Asn528Lys)
c.690T>G (p.Asn230Lys)
2g.39022673A>GCA425866709SOS1n.1635T>C
c.522T>C (p.Asn174=)
n.1976T>C
n.1762T>C
c.1644T>C (p.Asn548=)
c.1755T>C (p.Asn585=)
c.1848T>C (p.Asn616=)
c.1734T>C (p.Asn578=)
c.1731T>C (p.Asn577=)
c.1584T>C (p.Asn528=)
c.690T>C (p.Asn230=)
2g.39022673A>TCA346365459SOS1n.1635T>A
c.522T>A (p.Asn174Lys)
n.1976T>A
n.1762T>A
c.1644T>A (p.Asn548Lys)
c.1755T>A (p.Asn585Lys)
c.1848T>A (p.Asn616Lys)
c.1734T>A (p.Asn578Lys)
c.1731T>A (p.Asn577Lys)
c.1584T>A (p.Asn528Lys)
c.690T>A (p.Asn230Lys)
2g.39022674T>ACA346365460SOS1n.1634A>T
c.521A>T (p.Asn174Ile)
n.1975A>T
n.1761A>T
c.1643A>T (p.Asn548Ile)
c.1754A>T (p.Asn585Ile)
c.1847A>T (p.Asn616Ile)
c.1733A>T (p.Asn578Ile)
c.1730A>T (p.Asn577Ile)
c.1583A>T (p.Asn528Ile)
c.689A>T (p.Asn230Ile)
2g.39022674T>CCA45674400SOS1n.1634A>G
c.521A>G (p.Asn174Ser)
n.1975A>G
n.1761A>G
c.1643A>G (p.Asn548Ser)
c.1754A>G (p.Asn585Ser)
c.1847A>G (p.Asn616Ser)
c.1733A>G (p.Asn578Ser)
c.1730A>G (p.Asn577Ser)
c.1583A>G (p.Asn528Ser)
c.689A>G (p.Asn230Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.39022674T>GCA346365461SOS1n.1634A>C
c.521A>C (p.Asn174Thr)
n.1975A>C
n.1761A>C
c.1643A>C (p.Asn548Thr)
c.1754A>C (p.Asn585Thr)
c.1847A>C (p.Asn616Thr)
c.1733A>C (p.Asn578Thr)
c.1730A>C (p.Asn577Thr)
c.1583A>C (p.Asn528Thr)
c.689A>C (p.Asn230Thr)
COSMIC
2g.39022674T=CA1246139302SOS1n.1634A=
c.521A= (p.Asn174=)
n.1975A=
n.1761A=
c.1643A= (p.Asn548=)
c.1754A= (p.Asn585=)
c.1847A= (p.Asn616=)
c.1733A= (p.Asn578=)
c.1730A= (p.Asn577=)
c.1583A= (p.Asn528=)
c.689A= (p.Asn230=)
2g.39022675T>ACA346365462SOS1n.1633A>T
c.520A>T (p.Asn174Tyr)
n.1974A>T
n.1760A>T
c.1642A>T (p.Asn548Tyr)
c.1753A>T (p.Asn585Tyr)
c.1846A>T (p.Asn616Tyr)
c.1732A>T (p.Asn578Tyr)
c.1729A>T (p.Asn577Tyr)
c.1582A>T (p.Asn528Tyr)
c.688A>T (p.Asn230Tyr)
2g.39022675T>CCA346365463SOS1n.1633A>G
c.520A>G (p.Asn174Asp)
n.1974A>G
n.1760A>G
c.1642A>G (p.Asn548Asp)
c.1753A>G (p.Asn585Asp)
c.1846A>G (p.Asn616Asp)
c.1732A>G (p.Asn578Asp)
c.1729A>G (p.Asn577Asp)
c.1582A>G (p.Asn528Asp)
c.688A>G (p.Asn230Asp)
2g.39022675T>GCA346365464SOS1n.1633A>C
c.520A>C (p.Asn174His)
n.1974A>C
n.1760A>C
c.1642A>C (p.Asn548His)
c.1753A>C (p.Asn585His)
c.1846A>C (p.Asn616His)
c.1732A>C (p.Asn578His)
c.1729A>C (p.Asn577His)
c.1582A>C (p.Asn528His)
c.688A>C (p.Asn230His)
2g.39022676C>ACA346365465SOS1n.1632G>T
c.519G>T (p.Glu173Asp)
n.1973G>T
n.1759G>T
c.1641G>T (p.Glu547Asp)
c.1752G>T (p.Glu584Asp)
c.1845G>T (p.Glu615Asp)
c.1731G>T (p.Glu577Asp)
c.1728G>T (p.Glu576Asp)
c.1581G>T (p.Glu527Asp)
c.687G>T (p.Glu229Asp)
2g.39022676C>GCA346365466SOS1n.1632G>C
c.519G>C (p.Glu173Asp)
n.1973G>C
n.1759G>C
c.1641G>C (p.Glu547Asp)
c.1752G>C (p.Glu584Asp)
c.1845G>C (p.Glu615Asp)
c.1731G>C (p.Glu577Asp)
c.1728G>C (p.Glu576Asp)
c.1581G>C (p.Glu527Asp)
c.687G>C (p.Glu229Asp)
2g.39022676C>TCA425866710SOS1n.1632G>A
c.519G>A (p.Glu173=)
n.1973G>A
n.1759G>A
c.1641G>A (p.Glu547=)
c.1752G>A (p.Glu584=)
c.1845G>A (p.Glu615=)
c.1731G>A (p.Glu577=)
c.1728G>A (p.Glu576=)
c.1581G>A (p.Glu527=)
c.687G>A (p.Glu229=)
gnomAD v4
2g.39022677T>ACA346365467SOS1n.1631A>T
c.518A>T (p.Glu173Val)
n.1972A>T
n.1758A>T
c.1640A>T (p.Glu547Val)
c.1751A>T (p.Glu584Val)
c.1844A>T (p.Glu615Val)
c.1730A>T (p.Glu577Val)
c.1727A>T (p.Glu576Val)
c.1580A>T (p.Glu527Val)
c.686A>T (p.Glu229Val)
gnomAD v4
2g.39022677T>CCA45674404SOS1n.1631A>G
c.518A>G (p.Glu173Gly)
n.1972A>G
n.1758A>G
c.1640A>G (p.Glu547Gly)
c.1751A>G (p.Glu584Gly)
c.1844A>G (p.Glu615Gly)
c.1730A>G (p.Glu577Gly)
c.1727A>G (p.Glu576Gly)
c.1580A>G (p.Glu527Gly)
c.686A>G (p.Glu229Gly)
dbSNP gnomAD v2 gnomAD v4
2g.39022677T>GCA346365468SOS1n.1631A>C
c.518A>C (p.Glu173Ala)
n.1972A>C
n.1758A>C
c.1640A>C (p.Glu547Ala)
c.1751A>C (p.Glu584Ala)
c.1844A>C (p.Glu615Ala)
c.1730A>C (p.Glu577Ala)
c.1727A>C (p.Glu576Ala)
c.1580A>C (p.Glu527Ala)
c.686A>C (p.Glu229Ala)
2g.39022677T=CA1246139309SOS1n.1631A=
c.518A= (p.Glu173=)
n.1972A=
n.1758A=
c.1640A= (p.Glu547=)
c.1751A= (p.Glu584=)
c.1844A= (p.Glu615=)
c.1730A= (p.Glu577=)
c.1727A= (p.Glu576=)
c.1580A= (p.Glu527=)
c.686A= (p.Glu229=)
2g.39022678C>ACA346365469SOS1n.1630G>T
c.517G>T (p.Glu173Ter)
n.1971G>T
n.1757G>T
c.1639G>T (p.Glu547Ter)
c.1750G>T (p.Glu584Ter)
c.1843G>T (p.Glu615Ter)
c.1729G>T (p.Glu577Ter)
c.1726G>T (p.Glu576Ter)
c.1579G>T (p.Glu527Ter)
c.685G>T (p.Glu229Ter)
2g.39022678C=CA1246139312SOS1n.1630G=
c.517G= (p.Glu173=)
n.1971G=
n.1757G=
c.1639G= (p.Glu547=)
c.1750G= (p.Glu584=)
c.1843G= (p.Glu615=)
c.1729G= (p.Glu577=)
c.1726G= (p.Glu576=)
c.1579G= (p.Glu527=)
c.685G= (p.Glu229=)
2g.39022678C>GCA346365470SOS1n.1630G>C
c.517G>C (p.Glu173Gln)
n.1971G>C
n.1757G>C
c.1639G>C (p.Glu547Gln)
c.1750G>C (p.Glu584Gln)
c.1843G>C (p.Glu615Gln)
c.1729G>C (p.Glu577Gln)
c.1726G>C (p.Glu576Gln)
c.1579G>C (p.Glu527Gln)
c.685G>C (p.Glu229Gln)
2g.39022678C>TCA1624557SOS1n.1630G>A
c.517G>A (p.Glu173Lys)
n.1971G>A
n.1757G>A
c.1639G>A (p.Glu547Lys)
c.1750G>A (p.Glu584Lys)
c.1843G>A (p.Glu615Lys)
c.1729G>A (p.Glu577Lys)
c.1726G>A (p.Glu576Lys)
c.1579G>A (p.Glu527Lys)
c.685G>A (p.Glu229Lys)
ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
2g.39022679T>ACA346365471SOS1n.1629A>T
c.516A>T (p.Glu172Asp)
n.1970A>T
n.1756A>T
c.1638A>T (p.Glu546Asp)
c.1749A>T (p.Glu583Asp)
c.1842A>T (p.Glu614Asp)
c.1728A>T (p.Glu576Asp)
c.1725A>T (p.Glu575Asp)
c.1578A>T (p.Glu526Asp)
c.684A>T (p.Glu228Asp)
2g.39022679T>CCA425866711SOS1n.1629A>G
c.516A>G (p.Glu172=)
n.1970A>G
n.1756A>G
c.1638A>G (p.Glu546=)
c.1749A>G (p.Glu583=)
c.1842A>G (p.Glu614=)
c.1728A>G (p.Glu576=)
c.1725A>G (p.Glu575=)
c.1578A>G (p.Glu526=)
c.684A>G (p.Glu228=)
2g.39022679T>GCA346365472SOS1n.1629A>C
c.516A>C (p.Glu172Asp)
n.1970A>C
n.1756A>C
c.1638A>C (p.Glu546Asp)
c.1749A>C (p.Glu583Asp)
c.1842A>C (p.Glu614Asp)
c.1728A>C (p.Glu576Asp)
c.1725A>C (p.Glu575Asp)
c.1578A>C (p.Glu526Asp)
c.684A>C (p.Glu228Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.39022679T=CA1246139314SOS1n.1629A=
c.516A= (p.Glu172=)
n.1970A=
n.1756A=
c.1638A= (p.Glu546=)
c.1749A= (p.Glu583=)
c.1842A= (p.Glu614=)
c.1728A= (p.Glu576=)
c.1725A= (p.Glu575=)
c.1578A= (p.Glu526=)
c.684A= (p.Glu228=)
2g.39022680T>ACA346365473SOS1n.1628A>T
c.515A>T (p.Glu172Val)
n.1969A>T
n.1755A>T
c.1637A>T (p.Glu546Val)
c.1748A>T (p.Glu583Val)
c.1841A>T (p.Glu614Val)
c.1727A>T (p.Glu576Val)
c.1724A>T (p.Glu575Val)
c.1577A>T (p.Glu526Val)
c.683A>T (p.Glu228Val)
ClinVar
2g.39022680T>CCA346365474SOS1n.1628A>G
c.515A>G (p.Glu172Gly)
n.1969A>G
n.1755A>G
c.1637A>G (p.Glu546Gly)
c.1748A>G (p.Glu583Gly)
c.1841A>G (p.Glu614Gly)
c.1727A>G (p.Glu576Gly)
c.1724A>G (p.Glu575Gly)
c.1577A>G (p.Glu526Gly)
c.683A>G (p.Glu228Gly)
2g.39022680T>GCA346365475SOS1n.1628A>C
c.515A>C (p.Glu172Ala)
n.1969A>C
n.1755A>C
c.1637A>C (p.Glu546Ala)
c.1748A>C (p.Glu583Ala)
c.1841A>C (p.Glu614Ala)
c.1727A>C (p.Glu576Ala)
c.1724A>C (p.Glu575Ala)
c.1577A>C (p.Glu526Ala)
c.683A>C (p.Glu228Ala)
ClinVar
2g.39022681C>ACA346365476SOS1n.1627G>T
c.514G>T (p.Glu172Ter)
n.1968G>T
n.1754G>T
c.1636G>T (p.Glu546Ter)
c.1747G>T (p.Glu583Ter)
c.1840G>T (p.Glu614Ter)
c.1726G>T (p.Glu576Ter)
c.1723G>T (p.Glu575Ter)
c.1576G>T (p.Glu526Ter)
c.682G>T (p.Glu228Ter)
2g.39022681C>GCA346365477SOS1n.1627G>C
c.514G>C (p.Glu172Gln)
n.1968G>C
n.1754G>C
c.1636G>C (p.Glu546Gln)
c.1747G>C (p.Glu583Gln)
c.1840G>C (p.Glu614Gln)
c.1726G>C (p.Glu576Gln)
c.1723G>C (p.Glu575Gln)
c.1576G>C (p.Glu526Gln)
c.682G>C (p.Glu228Gln)
gnomAD v4
2g.39022681C>TCA346365478SOS1n.1627G>A
c.514G>A (p.Glu172Lys)
n.1968G>A
n.1754G>A
c.1636G>A (p.Glu546Lys)
c.1747G>A (p.Glu583Lys)
c.1840G>A (p.Glu614Lys)
c.1726G>A (p.Glu576Lys)
c.1723G>A (p.Glu575Lys)
c.1576G>A (p.Glu526Lys)
c.682G>A (p.Glu228Lys)
2g.39022682A=CA1246139315SOS1n.1626T=
c.513T= (p.Ser171=)
n.1967T=
n.1753T=
c.1635T= (p.Ser545=)
c.1746T= (p.Ser582=)
c.1839T= (p.Ser613=)
c.1725T= (p.Ser575=)
c.1722T= (p.Ser574=)
c.1575T= (p.Ser525=)
c.681T= (p.Ser227=)
2g.39022682A>CCA425866712SOS1n.1626T>G
c.513T>G (p.Ser171=)
n.1967T>G
n.1753T>G
c.1635T>G (p.Ser545=)
c.1746T>G (p.Ser582=)
c.1839T>G (p.Ser613=)
c.1725T>G (p.Ser575=)
c.1722T>G (p.Ser574=)
c.1575T>G (p.Ser525=)
c.681T>G (p.Ser227=)
2g.39022682A>GCA425866713SOS1n.1626T>C
c.513T>C (p.Ser171=)
n.1967T>C
n.1753T>C
c.1635T>C (p.Ser545=)
c.1746T>C (p.Ser582=)
c.1839T>C (p.Ser613=)
c.1725T>C (p.Ser575=)
c.1722T>C (p.Ser574=)
c.1575T>C (p.Ser525=)
c.681T>C (p.Ser227=)
gnomAD v4
2g.39022682A>TCA425866714SOS1n.1626T>A
c.513T>A (p.Ser171=)
n.1967T>A
n.1753T>A
c.1635T>A (p.Ser545=)
c.1746T>A (p.Ser582=)
c.1839T>A (p.Ser613=)
c.1725T>A (p.Ser575=)
c.1722T>A (p.Ser574=)
c.1575T>A (p.Ser525=)
c.681T>A (p.Ser227=)
dbSNP
2g.39022683G>ACA346365481SOS1n.1625C>T
c.512C>T (p.Ser171Phe)
n.1966C>T
n.1752C>T
c.1634C>T (p.Ser545Phe)
c.1745C>T (p.Ser582Phe)
c.1838C>T (p.Ser613Phe)
c.1724C>T (p.Ser575Phe)
c.1721C>T (p.Ser574Phe)
c.1574C>T (p.Ser525Phe)
c.680C>T (p.Ser227Phe)
2g.39022683G>CCA346365479SOS1n.1625C>G
c.512C>G (p.Ser171Cys)
n.1966C>G
n.1752C>G
c.1634C>G (p.Ser545Cys)
c.1745C>G (p.Ser582Cys)
c.1838C>G (p.Ser613Cys)
c.1724C>G (p.Ser575Cys)
c.1721C>G (p.Ser574Cys)
c.1574C>G (p.Ser525Cys)
c.680C>G (p.Ser227Cys)
2g.39022683G>TCA346365480SOS1n.1625C>A
c.512C>A (p.Ser171Tyr)
n.1966C>A
n.1752C>A
c.1634C>A (p.Ser545Tyr)
c.1745C>A (p.Ser582Tyr)
c.1838C>A (p.Ser613Tyr)
c.1724C>A (p.Ser575Tyr)
c.1721C>A (p.Ser574Tyr)
c.1574C>A (p.Ser525Tyr)
c.680C>A (p.Ser227Tyr)

Number of alleles fetched