Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.46066559C>ACA399986270KANSL1c.1826G>T (p.Ser609Ile)
n.552G>T
c.560G>T (p.Ser187Ile)
n.2064G>T
c.997G>T
n.623G>T
c.1724G>T (p.Ser575Ile)
c.596G>T (p.Ser199Ile)
 dbSNP gnomAD v4
17g.46066559C=CA2262127371KANSL1c.1826G= (p.Ser609=)
n.552G=
c.560G= (p.Ser187=)
n.2064G=
c.997G=
n.623G=
c.1724G= (p.Ser575=)
c.596G= (p.Ser199=)
17g.46066559C>GCA399986271KANSL1c.1826G>C (p.Ser609Thr)
n.552G>C
c.560G>C (p.Ser187Thr)
n.2064G>C
c.997G>C
n.623G>C
c.1724G>C (p.Ser575Thr)
c.596G>C (p.Ser199Thr)
17g.46066559C>TCA8618721KANSL1c.1826G>A (p.Ser609Asn)
n.552G>A
c.560G>A (p.Ser187Asn)
n.2064G>A
c.997G>A
n.623G>A
c.1724G>A (p.Ser575Asn)
c.596G>A (p.Ser199Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46066560T>ACA399986274KANSL1c.1825A>T (p.Ser609Cys)
n.551A>T
c.559A>T (p.Ser187Cys)
n.2063A>T
c.996A>T
n.622A>T
c.1723A>T (p.Ser575Cys)
c.595A>T (p.Ser199Cys)
17g.46066560T>CCA399986275KANSL1c.1825A>G (p.Ser609Gly)
n.551A>G
c.559A>G (p.Ser187Gly)
n.2063A>G
c.996A>G
n.622A>G
c.1723A>G (p.Ser575Gly)
c.595A>G (p.Ser199Gly)
17g.46066560T>GCA399986277KANSL1c.1825A>C (p.Ser609Arg)
n.551A>C
c.559A>C (p.Ser187Arg)
n.2063A>C
c.996A>C
n.622A>C
c.1723A>C (p.Ser575Arg)
c.595A>C (p.Ser199Arg)
17g.46066561G>ACA8618722KANSL1c.1824C>T (p.Asn608=)
n.550C>T
c.558C>T (p.Asn186=)
n.2062C>T
c.995C>T
n.621C>T
c.1722C>T (p.Asn574=)
c.594C>T (p.Asn198=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46066561G>CCA399986280KANSL1c.1824C>G (p.Asn608Lys)
n.550C>G
c.558C>G (p.Asn186Lys)
n.2062C>G
c.995C>G
n.621C>G
c.1722C>G (p.Asn574Lys)
c.594C>G (p.Asn198Lys)
 dbSNP
17g.46066561G=CA2262127372KANSL1c.1824C= (p.Asn608=)
n.550C=
c.558C= (p.Asn186=)
n.2062C=
c.995C=
n.621C=
c.1722C= (p.Asn574=)
c.594C= (p.Asn198=)
17g.46066561G>TCA399986282KANSL1c.1824C>A (p.Asn608Lys)
n.550C>A
c.558C>A (p.Asn186Lys)
n.2062C>A
c.995C>A
n.621C>A
c.1722C>A (p.Asn574Lys)
c.594C>A (p.Asn198Lys)
17g.46066562T>ACA399986286KANSL1c.1823A>T (p.Asn608Ile)
n.549A>T
c.557A>T (p.Asn186Ile)
n.2061A>T
c.994A>T
n.620A>T
c.1721A>T (p.Asn574Ile)
c.593A>T (p.Asn198Ile)
17g.46066562T>CCA8618723KANSL1c.1823A>G (p.Asn608Ser)
n.549A>G
c.557A>G (p.Asn186Ser)
n.2061A>G
c.994A>G
n.620A>G
c.1721A>G (p.Asn574Ser)
c.593A>G (p.Asn198Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46066562T>GCA399986288KANSL1c.1823A>C (p.Asn608Thr)
n.549A>C
c.557A>C (p.Asn186Thr)
n.2061A>C
c.994A>C
n.620A>C
c.1721A>C (p.Asn574Thr)
c.593A>C (p.Asn198Thr)
17g.46066562T=CA2262127373KANSL1c.1823A= (p.Asn608=)
n.549A=
c.557A= (p.Asn186=)
n.2061A=
c.994A=
n.620A=
c.1721A= (p.Asn574=)
c.593A= (p.Asn198=)
17g.46066563T>ACA8618725KANSL1c.1822A>T (p.Asn608Tyr)
n.548A>T
c.556A>T (p.Asn186Tyr)
n.2060A>T
c.993A>T
n.619A>T
c.1720A>T (p.Asn574Tyr)
c.592A>T (p.Asn198Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46066563T>CCA8618724KANSL1c.1822A>G (p.Asn608Asp)
n.548A>G
c.556A>G (p.Asn186Asp)
n.2060A>G
c.993A>G
n.619A>G
c.1720A>G (p.Asn574Asp)
c.592A>G (p.Asn198Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46066563T>GCA399986293KANSL1c.1822A>C (p.Asn608His)
n.548A>C
c.556A>C (p.Asn186His)
n.2060A>C
c.993A>C
n.619A>C
c.1720A>C (p.Asn574His)
c.592A>C (p.Asn198His)
17g.46066563T=CA2262127374KANSL1c.1822A= (p.Asn608=)
n.548A=
c.556A= (p.Asn186=)
n.2060A=
c.993A=
n.619A=
c.1720A= (p.Asn574=)
c.592A= (p.Asn198=)
17g.46066564G>ACA291125516KANSL1c.1821C>T (p.Pro607=)
n.547C>T
c.555C>T (p.Pro185=)
n.2059C>T
c.992C>T
n.618C>T
c.1719C>T (p.Pro573=)
c.591C>T (p.Pro197=)
 dbSNP
17g.46066564G>CCA500370738KANSL1c.1821C>G (p.Pro607=)
n.547C>G
c.555C>G (p.Pro185=)
n.2059C>G
c.992C>G
n.618C>G
c.1719C>G (p.Pro573=)
c.591C>G (p.Pro197=)
17g.46066564G=CA2262127375KANSL1c.1821C= (p.Pro607=)
n.547C=
c.555C= (p.Pro185=)
n.2059C=
c.992C=
n.618C=
c.1719C= (p.Pro573=)
c.591C= (p.Pro197=)
17g.46066564G>TCA500370737KANSL1c.1821C>A (p.Pro607=)
n.547C>A
c.555C>A (p.Pro185=)
n.2059C>A
c.992C>A
n.618C>A
c.1719C>A (p.Pro573=)
c.591C>A (p.Pro197=)
17g.46066565G>ACA399986296KANSL1c.1820C>T (p.Pro607Leu)
n.546C>T
c.554C>T (p.Pro185Leu)
n.2058C>T
c.991C>T
n.617C>T
c.1718C>T (p.Pro573Leu)
c.590C>T (p.Pro197Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46066565G>CCA399986297KANSL1c.1820C>G (p.Pro607Arg)
n.546C>G
c.554C>G (p.Pro185Arg)
n.2058C>G
c.991C>G
n.617C>G
c.1718C>G (p.Pro573Arg)
c.590C>G (p.Pro197Arg)
17g.46066565G=CA2262127376KANSL1c.1820C= (p.Pro607=)
n.546C=
c.554C= (p.Pro185=)
n.2058C=
c.991C=
n.617C=
c.1718C= (p.Pro573=)
c.590C= (p.Pro197=)
17g.46066565G>TCA399986298KANSL1c.1820C>A (p.Pro607His)
n.546C>A
c.554C>A (p.Pro185His)
n.2058C>A
c.991C>A
n.617C>A
c.1718C>A (p.Pro573His)
c.590C>A (p.Pro197His)
 dbSNP gnomAD v4
17g.46066566G>ACA399986300KANSL1c.1819C>T (p.Pro607Ser)
n.545C>T
c.553C>T (p.Pro185Ser)
n.2057C>T
c.990C>T
n.616C>T
c.1717C>T (p.Pro573Ser)
c.589C>T (p.Pro197Ser)
17g.46066566G>CCA399986303KANSL1c.1819C>G (p.Pro607Ala)
n.545C>G
c.553C>G (p.Pro185Ala)
n.2057C>G
c.990C>G
n.616C>G
c.1717C>G (p.Pro573Ala)
c.589C>G (p.Pro197Ala)
17g.46066566G>TCA399986304KANSL1c.1819C>A (p.Pro607Thr)
n.545C>A
c.553C>A (p.Pro185Thr)
n.2057C>A
c.990C>A
n.616C>A
c.1717C>A (p.Pro573Thr)
c.589C>A (p.Pro197Thr)
17g.46066567T>ACA500370741KANSL1c.1818A>T (p.Arg606=)
n.544A>T
c.552A>T (p.Arg184=)
n.2056A>T
c.989A>T
n.615A>T
c.1716A>T (p.Arg572=)
c.588A>T (p.Arg196=)
17g.46066567T>CCA500370739KANSL1c.1818A>G (p.Arg606=)
n.544A>G
c.552A>G (p.Arg184=)
n.2056A>G
c.989A>G
n.615A>G
c.1716A>G (p.Arg572=)
c.588A>G (p.Arg196=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46066567T>GCA500370740KANSL1c.1818A>C (p.Arg606=)
n.544A>C
c.552A>C (p.Arg184=)
n.2056A>C
c.989A>C
n.615A>C
c.1716A>C (p.Arg572=)
c.588A>C (p.Arg196=)
17g.46066567T=CA2262127377KANSL1c.1818A= (p.Arg606=)
n.544A=
c.552A= (p.Arg184=)
n.2056A=
c.989A=
n.615A=
c.1716A= (p.Arg572=)
c.588A= (p.Arg196=)
17g.46066568C>ACA399986307KANSL1c.1817G>T (p.Arg606Leu)
n.543G>T
c.551G>T (p.Arg184Leu)
n.2055G>T
c.988G>T
n.614G>T
c.1715G>T (p.Arg572Leu)
c.587G>T (p.Arg196Leu)
17g.46066568C=CA2262127378KANSL1c.1817G= (p.Arg606=)
n.543G=
c.551G= (p.Arg184=)
n.2055G=
c.988G=
n.614G=
c.1715G= (p.Arg572=)
c.587G= (p.Arg196=)
17g.46066568C>GCA399986310KANSL1c.1817G>C (p.Arg606Pro)
n.543G>C
c.551G>C (p.Arg184Pro)
n.2055G>C
c.988G>C
n.614G>C
c.1715G>C (p.Arg572Pro)
c.587G>C (p.Arg196Pro)
17g.46066568C>TCA8618726KANSL1c.1817G>A (p.Arg606Gln)
n.543G>A
c.551G>A (p.Arg184Gln)
n.2055G>A
c.988G>A
n.614G>A
c.1715G>A (p.Arg572Gln)
c.587G>A (p.Arg196Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46066569G>ACA342801KANSL1c.1816C>T (p.Arg606Ter)
n.542C>T
c.550C>T (p.Arg184Ter)
n.2054C>T
c.987C>T
n.613C>T
c.1714C>T (p.Arg572Ter)
c.586C>T (p.Arg196Ter)
 ClinVar dbSNP gnomAD v4
17g.46066569G>CCA8618727KANSL1c.1816C>G (p.Arg606Gly)
n.542C>G
c.550C>G (p.Arg184Gly)
n.2054C>G
c.987C>G
n.613C>G
c.1714C>G (p.Arg572Gly)
c.586C>G (p.Arg196Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.46066569G=CA2262127379KANSL1c.1816C= (p.Arg606=)
n.542C=
c.550C= (p.Arg184=)
n.2054C=
c.987C=
n.613C=
c.1714C= (p.Arg572=)
c.586C= (p.Arg196=)
17g.46066569G>TCA500370742KANSL1c.1816C>A (p.Arg606=)
n.542C>A
c.550C>A (p.Arg184=)
n.2054C>A
c.987C>A
n.613C>A
c.1714C>A (p.Arg572=)
c.586C>A (p.Arg196=)
17g.46066570A>CCA500370744KANSL1c.1815T>G (p.Val605=)
n.541T>G
c.549T>G (p.Val183=)
n.2053T>G
c.986T>G
n.612T>G
c.1713T>G (p.Val571=)
c.585T>G (p.Val195=)
17g.46066570A>GCA500370745KANSL1c.1815T>C (p.Val605=)
n.541T>C
c.549T>C (p.Val183=)
n.2053T>C
c.986T>C
n.612T>C
c.1713T>C (p.Val571=)
c.585T>C (p.Val195=)
17g.46066570A>TCA500370743KANSL1c.1815T>A (p.Val605=)
n.541T>A
c.549T>A (p.Val183=)
n.2053T>A
c.986T>A
n.612T>A
c.1713T>A (p.Val571=)
c.585T>A (p.Val195=)
17g.46066571A>CCA399986314KANSL1c.1814T>G (p.Val605Gly)
n.540T>G
c.548T>G (p.Val183Gly)
n.2052T>G
c.985T>G
n.611T>G
c.1712T>G (p.Val571Gly)
c.584T>G (p.Val195Gly)
17g.46066571A>GCA399986316KANSL1c.1814T>C (p.Val605Ala)
n.540T>C
c.548T>C (p.Val183Ala)
n.2052T>C
c.985T>C
n.611T>C
c.1712T>C (p.Val571Ala)
c.584T>C (p.Val195Ala)
17g.46066571A>TCA399986317KANSL1c.1814T>A (p.Val605Asp)
n.540T>A
c.548T>A (p.Val183Asp)
n.2052T>A
c.985T>A
n.611T>A
c.1712T>A (p.Val571Asp)
c.584T>A (p.Val195Asp)
17g.46066572C>ACA399986320KANSL1c.1813G>T (p.Val605Phe)
n.539G>T
c.547G>T (p.Val183Phe)
n.2051G>T
c.984G>T
n.610G>T
c.1711G>T (p.Val571Phe)
c.583G>T (p.Val195Phe)
17g.46066572C>GCA399986322KANSL1c.1813G>C (p.Val605Leu)
n.539G>C
c.547G>C (p.Val183Leu)
n.2051G>C
c.984G>C
n.610G>C
c.1711G>C (p.Val571Leu)
c.583G>C (p.Val195Leu)
 gnomAD v4
17g.46066572C>TCA399986323KANSL1c.1813G>A (p.Val605Ile)
n.539G>A
c.547G>A (p.Val183Ile)
n.2051G>A
c.984G>A
n.610G>A
c.1711G>A (p.Val571Ile)
c.583G>A (p.Val195Ile)
 gnomAD v4
17g.46066573A=CA2262127380KANSL1c.1812T= (p.Leu604=)
n.538T=
c.546T= (p.Leu182=)
n.2050T=
c.983T=
n.609T=
c.1710T= (p.Leu570=)
c.582T= (p.Leu194=)
17g.46066573A>CCA500370748KANSL1c.1812T>G (p.Leu604=)
n.538T>G
c.546T>G (p.Leu182=)
n.2050T>G
c.983T>G
n.609T>G
c.1710T>G (p.Leu570=)
c.582T>G (p.Leu194=)
 dbSNP gnomAD v3 gnomAD v4
17g.46066573A>GCA500370746KANSL1c.1812T>C (p.Leu604=)
n.538T>C
c.546T>C (p.Leu182=)
n.2050T>C
c.983T>C
n.609T>C
c.1710T>C (p.Leu570=)
c.582T>C (p.Leu194=)
17g.46066573A>TCA500370747KANSL1c.1812T>A (p.Leu604=)
n.538T>A
c.546T>A (p.Leu182=)
n.2050T>A
c.983T>A
n.609T>A
c.1710T>A (p.Leu570=)
c.582T>A (p.Leu194=)
17g.46066574A>CCA399986328KANSL1c.1811T>G (p.Leu604Arg)
n.537T>G
c.545T>G (p.Leu182Arg)
n.2049T>G
c.982T>G
n.608T>G
c.1709T>G (p.Leu570Arg)
c.581T>G (p.Leu194Arg)
17g.46066574A>GCA399986326KANSL1c.1811T>C (p.Leu604Pro)
n.537T>C
c.545T>C (p.Leu182Pro)
n.2049T>C
c.982T>C
n.608T>C
c.1709T>C (p.Leu570Pro)
c.581T>C (p.Leu194Pro)
17g.46066574A>TCA399986327KANSL1c.1811T>A (p.Leu604His)
n.537T>A
c.545T>A (p.Leu182His)
n.2049T>A
c.982T>A
n.608T>A
c.1709T>A (p.Leu570His)
c.581T>A (p.Leu194His)
17g.46066575G>ACA399986332KANSL1c.1810C>T (p.Leu604Phe)
n.536C>T
c.544C>T (p.Leu182Phe)
n.2048C>T
c.981C>T
n.607C>T
c.1708C>T (p.Leu570Phe)
c.580C>T (p.Leu194Phe)
 gnomAD v4
17g.46066575G>CCA399986333KANSL1c.1810C>G (p.Leu604Val)
n.536C>G
c.544C>G (p.Leu182Val)
n.2048C>G
c.981C>G
n.607C>G
c.1708C>G (p.Leu570Val)
c.580C>G (p.Leu194Val)
17g.46066575G>TCA399986335KANSL1c.1810C>A (p.Leu604Ile)
n.536C>A
c.544C>A (p.Leu182Ile)
n.2048C>A
c.981C>A
n.607C>A
c.1708C>A (p.Leu570Ile)
c.580C>A (p.Leu194Ile)
17g.46066576C>ACA399986337KANSL1c.1809G>T (p.Arg603Ser)
n.535G>T
c.543G>T (p.Arg181Ser)
n.2047G>T
c.980G>T
n.606G>T
c.1707G>T (p.Arg569Ser)
c.579G>T (p.Arg193Ser)
17g.46066576C=CA2262127381KANSL1c.1809G= (p.Arg603=)
n.535G=
c.543G= (p.Arg181=)
n.2047G=
c.980G=
n.606G=
c.1707G= (p.Arg569=)
c.579G= (p.Arg193=)
17g.46066576C>GCA8618728KANSL1c.1809G>C (p.Arg603Ser)
n.535G>C
c.543G>C (p.Arg181Ser)
n.2047G>C
c.980G>C
n.606G>C
c.1707G>C (p.Arg569Ser)
c.579G>C (p.Arg193Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46066576C>TCA500370749KANSL1c.1809G>A (p.Arg603=)
n.535G>A
c.543G>A (p.Arg181=)
n.2047G>A
c.980G>A
n.606G>A
c.1707G>A (p.Arg569=)
c.579G>A (p.Arg193=)
17g.46066577C>ACA399986343KANSL1c.1808G>T (p.Arg603Met)
n.534G>T
c.542G>T (p.Arg181Met)
n.2046G>T
c.979G>T
n.605G>T
c.1706G>T (p.Arg569Met)
c.578G>T (p.Arg193Met)
 COSMIC
17g.46066577C>GCA399986339KANSL1c.1808G>C (p.Arg603Thr)
n.534G>C
c.542G>C (p.Arg181Thr)
n.2046G>C
c.979G>C
n.605G>C
c.1706G>C (p.Arg569Thr)
c.578G>C (p.Arg193Thr)
17g.46066577C>TCA399986341KANSL1c.1808G>A (p.Arg603Lys)
n.534G>A
c.542G>A (p.Arg181Lys)
n.2046G>A
c.979G>A
n.605G>A
c.1706G>A (p.Arg569Lys)
c.578G>A (p.Arg193Lys)
17g.46066578T>ACA399986346KANSL1c.1807A>T (p.Arg603Trp)
n.533A>T
c.541A>T (p.Arg181Trp)
n.2045A>T
c.978A>T
n.604A>T
c.1705A>T (p.Arg569Trp)
c.577A>T (p.Arg193Trp)
17g.46066578T>CCA399986347KANSL1c.1807A>G (p.Arg603Gly)
n.533A>G
c.541A>G (p.Arg181Gly)
n.2045A>G
c.978A>G
n.604A>G
c.1705A>G (p.Arg569Gly)
c.577A>G (p.Arg193Gly)
17g.46066578T>GCA500370750KANSL1c.1807A>C (p.Arg603=)
n.533A>C
c.541A>C (p.Arg181=)
n.2045A>C
c.978A>C
n.604A>C
c.1705A>C (p.Arg569=)
c.577A>C (p.Arg193=)
17g.46066579C>ACA500370752KANSL1c.1806G>T (p.Arg602=)
n.532G>T
c.540G>T (p.Arg180=)
n.2044G>T
c.977G>T
n.603G>T
c.1704G>T (p.Arg568=)
c.576G>T (p.Arg192=)
17g.46066579C>GCA500370753KANSL1c.1806G>C (p.Arg602=)
n.532G>C
c.540G>C (p.Arg180=)
n.2044G>C
c.977G>C
n.603G>C
c.1704G>C (p.Arg568=)
c.576G>C (p.Arg192=)
17g.46066579C>TCA500370751KANSL1c.1806G>A (p.Arg602=)
n.532G>A
c.540G>A (p.Arg180=)
n.2044G>A
c.977G>A
n.603G>A
c.1704G>A (p.Arg568=)
c.576G>A (p.Arg192=)
17g.46066580C>ACA399986350KANSL1c.1805G>T (p.Arg602Leu)
n.531G>T
c.539G>T (p.Arg180Leu)
n.2043G>T
c.976G>T
n.602G>T
c.1703G>T (p.Arg568Leu)
c.575G>T (p.Arg192Leu)
17g.46066580C=CA2262127382KANSL1c.1805G= (p.Arg602=)
n.531G=
c.539G= (p.Arg180=)
n.2043G=
c.976G=
n.602G=
c.1703G= (p.Arg568=)
c.575G= (p.Arg192=)
17g.46066580C>GCA399986352KANSL1c.1805G>C (p.Arg602Pro)
n.531G>C
c.539G>C (p.Arg180Pro)
n.2043G>C
c.976G>C
n.602G>C
c.1703G>C (p.Arg568Pro)
c.575G>C (p.Arg192Pro)
17g.46066580C>TCA399986354KANSL1c.1805G>A (p.Arg602Gln)
n.531G>A
c.539G>A (p.Arg180Gln)
n.2043G>A
c.976G>A
n.602G>A
c.1703G>A (p.Arg568Gln)
c.575G>A (p.Arg192Gln)
 dbSNP gnomAD v2 gnomAD v4
17g.46066581G>ACA399986356KANSL1c.1804C>T (p.Arg602Trp)
n.530C>T
c.538C>T (p.Arg180Trp)
n.2042C>T
c.975C>T
n.601C>T
c.1702C>T (p.Arg568Trp)
c.574C>T (p.Arg192Trp)
 gnomAD v4
17g.46066581G>CCA399986359KANSL1c.1804C>G (p.Arg602Gly)
n.530C>G
c.538C>G (p.Arg180Gly)
n.2042C>G
c.975C>G
n.601C>G
c.1702C>G (p.Arg568Gly)
c.574C>G (p.Arg192Gly)
17g.46066581G>TCA500370754KANSL1c.1804C>A (p.Arg602=)
n.530C>A
c.538C>A (p.Arg180=)
n.2042C>A
c.975C>A
n.601C>A
c.1702C>A (p.Arg568=)
c.574C>A (p.Arg192=)
17g.46066582C>ACA399986361KANSL1c.1803G>T (p.Lys601Asn)
n.529G>T
c.537G>T (p.Lys179Asn)
n.2041G>T
c.974G>T
n.600G>T
c.1701G>T (p.Lys567Asn)
c.573G>T (p.Lys191Asn)
17g.46066582C=CA2262127383KANSL1c.1803G= (p.Lys601=)
n.529G=
c.537G= (p.Lys179=)
n.2041G=
c.974G=
n.600G=
c.1701G= (p.Lys567=)
c.573G= (p.Lys191=)
17g.46066582C>GCA399986362KANSL1c.1803G>C (p.Lys601Asn)
n.529G>C
c.537G>C (p.Lys179Asn)
n.2041G>C
c.974G>C
n.600G>C
c.1701G>C (p.Lys567Asn)
c.573G>C (p.Lys191Asn)
17g.46066582C>TCA500370755KANSL1c.1803G>A (p.Lys601=)
n.529G>A
c.537G>A (p.Lys179=)
n.2041G>A
c.974G>A
n.600G>A
c.1701G>A (p.Lys567=)
c.573G>A (p.Lys191=)
 dbSNP
17g.46066583T>ACA399986364KANSL1c.1802A>T (p.Lys601Met)
n.528A>T
c.536A>T (p.Lys179Met)
n.2040A>T
c.973A>T
n.599A>T
c.1700A>T (p.Lys567Met)
c.572A>T (p.Lys191Met)
17g.46066583T>CCA399986366KANSL1c.1802A>G (p.Lys601Arg)
n.528A>G
c.536A>G (p.Lys179Arg)
n.2040A>G
c.973A>G
n.599A>G
c.1700A>G (p.Lys567Arg)
c.572A>G (p.Lys191Arg)
17g.46066583T>GCA399986368KANSL1c.1802A>C (p.Lys601Thr)
n.528A>C
c.536A>C (p.Lys179Thr)
n.2040A>C
c.973A>C
n.599A>C
c.1700A>C (p.Lys567Thr)
c.572A>C (p.Lys191Thr)
 dbSNP
17g.46066583T=CA2262127384KANSL1c.1802A= (p.Lys601=)
n.528A=
c.536A= (p.Lys179=)
n.2040A=
c.973A=
n.599A=
c.1700A= (p.Lys567=)
c.572A= (p.Lys191=)
17g.46066584dupCA2580093987KANSL1c.1802dup (p.Arg602AlafsTer27)
n.528dup
c.536dup (p.Arg180AlafsTer27)
n.2040dup
c.973dup
n.599dup
c.1700dup (p.Arg568AlafsTer27)
c.572dup (p.Arg192AlafsTer27)
 ClinVar
17g.46066584T>ACA399986370KANSL1c.1801A>T (p.Lys601Ter)
n.527A>T
c.535A>T (p.Lys179Ter)
n.2039A>T
c.972A>T
n.598A>T
c.1699A>T (p.Lys567Ter)
c.571A>T (p.Lys191Ter)
17g.46066584T>CCA399986374KANSL1c.1801A>G (p.Lys601Glu)
n.527A>G
c.535A>G (p.Lys179Glu)
n.2039A>G
c.972A>G
n.598A>G
c.1699A>G (p.Lys567Glu)
c.571A>G (p.Lys191Glu)
17g.46066584T>GCA399986372KANSL1c.1801A>C (p.Lys601Gln)
n.527A>C
c.535A>C (p.Lys179Gln)
n.2039A>C
c.972A>C
n.598A>C
c.1699A>C (p.Lys567Gln)
c.571A>C (p.Lys191Gln)
17g.46066585C>ACA399986376KANSL1c.1800G>T (p.Lys600Asn)
n.526G>T
c.534G>T (p.Lys178Asn)
n.2038G>T
c.971G>T
n.597G>T
c.1698G>T (p.Lys566Asn)
c.570G>T (p.Lys190Asn)
17g.46066585C>GCA399986378KANSL1c.1800G>C (p.Lys600Asn)
n.526G>C
c.534G>C (p.Lys178Asn)
n.2038G>C
c.971G>C
n.597G>C
c.1698G>C (p.Lys566Asn)
c.570G>C (p.Lys190Asn)
17g.46066585C>TCA500370756KANSL1c.1800G>A (p.Lys600=)
n.526G>A
c.534G>A (p.Lys178=)
n.2038G>A
c.971G>A
n.597G>A
c.1698G>A (p.Lys566=)
c.570G>A (p.Lys190=)
17g.46066586T>ACA399986380KANSL1c.1799A>T (p.Lys600Met)
n.525A>T
c.533A>T (p.Lys178Met)
n.2037A>T
c.970A>T
n.596A>T
c.1697A>T (p.Lys566Met)
c.569A>T (p.Lys190Met)
17g.46066586T>CCA8618729KANSL1c.1799A>G (p.Lys600Arg)
n.525A>G
c.533A>G (p.Lys178Arg)
n.2037A>G
c.970A>G
n.596A>G
c.1697A>G (p.Lys566Arg)
c.569A>G (p.Lys190Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46066586T>GCA399986383KANSL1c.1799A>C (p.Lys600Thr)
n.525A>C
c.533A>C (p.Lys178Thr)
n.2037A>C
c.970A>C
n.596A>C
c.1697A>C (p.Lys566Thr)
c.569A>C (p.Lys190Thr)
17g.46066586T=CA2262127385KANSL1c.1799A= (p.Lys600=)
n.525A=
c.533A= (p.Lys178=)
n.2037A=
c.970A=
n.596A=
c.1697A= (p.Lys566=)
c.569A= (p.Lys190=)
17g.46066587T>ACA399986386KANSL1c.1798A>T (p.Lys600Ter)
n.524A>T
c.532A>T (p.Lys178Ter)
n.2036A>T
c.969A>T
n.595A>T
c.1696A>T (p.Lys566Ter)
c.568A>T (p.Lys190Ter)
17g.46066587T>CCA399986388KANSL1c.1798A>G (p.Lys600Glu)
n.524A>G
c.532A>G (p.Lys178Glu)
n.2036A>G
c.969A>G
n.595A>G
c.1696A>G (p.Lys566Glu)
c.568A>G (p.Lys190Glu)
17g.46066587T>GCA399986390KANSL1c.1798A>C (p.Lys600Gln)
n.524A>C
c.532A>C (p.Lys178Gln)
n.2036A>C
c.969A>C
n.595A>C
c.1696A>C (p.Lys566Gln)
c.568A>C (p.Lys190Gln)
17g.46066588A>CCA399986392KANSL1c.1797T>G (p.Cys599Trp)
n.523T>G
c.531T>G (p.Cys177Trp)
n.2035T>G
c.968T>G
n.594T>G
c.1695T>G (p.Cys565Trp)
c.567T>G (p.Cys189Trp)
17g.46066588A>GCA500370757KANSL1c.1797T>C (p.Cys599=)
n.523T>C
c.531T>C (p.Cys177=)
n.2035T>C
c.968T>C
n.594T>C
c.1695T>C (p.Cys565=)
c.567T>C (p.Cys189=)
17g.46066588A>TCA399986394KANSL1c.1797T>A (p.Cys599Ter)
n.523T>A
c.531T>A (p.Cys177Ter)
n.2035T>A
c.968T>A
n.594T>A
c.1695T>A (p.Cys565Ter)
c.567T>A (p.Cys189Ter)
17g.46066589C>ACA399986395KANSL1c.1796G>T (p.Cys599Phe)
n.522G>T
c.530G>T (p.Cys177Phe)
n.2034G>T
c.967G>T
n.593G>T
c.1694G>T (p.Cys565Phe)
c.566G>T (p.Cys189Phe)
17g.46066589C=CA2262127386KANSL1c.1796G= (p.Cys599=)
n.522G=
c.530G= (p.Cys177=)
n.2034G=
c.967G=
n.593G=
c.1694G= (p.Cys565=)
c.566G= (p.Cys189=)
17g.46066589C>GCA399986397KANSL1c.1796G>C (p.Cys599Ser)
n.522G>C
c.530G>C (p.Cys177Ser)
n.2034G>C
c.967G>C
n.593G>C
c.1694G>C (p.Cys565Ser)
c.566G>C (p.Cys189Ser)
17g.46066589C>TCA8618730KANSL1c.1796G>A (p.Cys599Tyr)
n.522G>A
c.530G>A (p.Cys177Tyr)
n.2034G>A
c.967G>A
n.593G>A
c.1694G>A (p.Cys565Tyr)
c.566G>A (p.Cys189Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46066590A>CCA399986399KANSL1c.1795T>G (p.Cys599Gly)
n.521T>G
c.529T>G (p.Cys177Gly)
n.2033T>G
c.966T>G
n.592T>G
c.1693T>G (p.Cys565Gly)
c.565T>G (p.Cys189Gly)
17g.46066590A>GCA399986403KANSL1c.1795T>C (p.Cys599Arg)
n.521T>C
c.529T>C (p.Cys177Arg)
n.2033T>C
c.966T>C
n.592T>C
c.1693T>C (p.Cys565Arg)
c.565T>C (p.Cys189Arg)
17g.46066590A>TCA399986401KANSL1c.1795T>A (p.Cys599Ser)
n.521T>A
c.529T>A (p.Cys177Ser)
n.2033T>A
c.966T>A
n.592T>A
c.1693T>A (p.Cys565Ser)
c.565T>A (p.Cys189Ser)
17g.46066591G>ACA500370758KANSL1c.1794C>T (p.Ser598=)
n.520C>T
c.528C>T (p.Ser176=)
n.2032C>T
c.965C>T
n.591C>T
c.1692C>T (p.Ser564=)
c.564C>T (p.Ser188=)
 gnomAD v4
17g.46066591G>CCA399986405KANSL1c.1794C>G (p.Ser598Arg)
n.520C>G
c.528C>G (p.Ser176Arg)
n.2032C>G
c.965C>G
n.591C>G
c.1692C>G (p.Ser564Arg)
c.564C>G (p.Ser188Arg)
17g.46066591G=CA2262127387KANSL1c.1794C= (p.Ser598=)
n.520C=
c.528C= (p.Ser176=)
n.2032C=
c.965C=
n.591C=
c.1692C= (p.Ser564=)
c.564C= (p.Ser188=)
17g.46066591G>TCA8618731KANSL1c.1794C>A (p.Ser598Arg)
n.520C>A
c.528C>A (p.Ser176Arg)
n.2032C>A
c.965C>A
n.591C>A
c.1692C>A (p.Ser564Arg)
c.564C>A (p.Ser188Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46066592C>ACA399986408KANSL1c.1793G>T (p.Ser598Ile)
n.519G>T
c.527G>T (p.Ser176Ile)
n.2031G>T
c.964G>T
n.590G>T
c.1691G>T (p.Ser564Ile)
c.563G>T (p.Ser188Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.46066592C=CA2262127388KANSL1c.1793G= (p.Ser598=)
n.519G=
c.527G= (p.Ser176=)
n.2031G=
c.964G=
n.590G=
c.1691G= (p.Ser564=)
c.563G= (p.Ser188=)
17g.46066592C>GCA399986410KANSL1c.1793G>C (p.Ser598Thr)
n.519G>C
c.527G>C (p.Ser176Thr)
n.2031G>C
c.964G>C
n.590G>C
c.1691G>C (p.Ser564Thr)
c.563G>C (p.Ser188Thr)
17g.46066592C>TCA399986412KANSL1c.1793G>A (p.Ser598Asn)
n.519G>A
c.527G>A (p.Ser176Asn)
n.2031G>A
c.964G>A
n.590G>A
c.1691G>A (p.Ser564Asn)
c.563G>A (p.Ser188Asn)
17g.46066593T>ACA399986414KANSL1c.1792A>T (p.Ser598Cys)
n.518A>T
c.526A>T (p.Ser176Cys)
n.2030A>T
c.963A>T
n.589A>T
c.1690A>T (p.Ser564Cys)
c.562A>T (p.Ser188Cys)
17g.46066593T>CCA399986417KANSL1c.1792A>G (p.Ser598Gly)
n.518A>G
c.526A>G (p.Ser176Gly)
n.2030A>G
c.963A>G
n.589A>G
c.1690A>G (p.Ser564Gly)
c.562A>G (p.Ser188Gly)
17g.46066593T>GCA399986418KANSL1c.1792A>C (p.Ser598Arg)
n.518A>C
c.526A>C (p.Ser176Arg)
n.2030A>C
c.963A>C
n.589A>C
c.1690A>C (p.Ser564Arg)
c.562A>C (p.Ser188Arg)
17g.46066594C>ACA500370759KANSL1c.1791G>T (p.Leu597=)
n.517G>T
c.525G>T (p.Leu175=)
n.2029G>T
c.962G>T
n.588G>T
c.1689G>T (p.Leu563=)
c.561G>T (p.Leu187=)
17g.46066594C>GCA500370760KANSL1c.1791G>C (p.Leu597=)
n.517G>C
c.525G>C (p.Leu175=)
n.2029G>C
c.962G>C
n.588G>C
c.1689G>C (p.Leu563=)
c.561G>C (p.Leu187=)
17g.46066594C>TCA500370761KANSL1c.1791G>A (p.Leu597=)
n.517G>A
c.525G>A (p.Leu175=)
n.2029G>A
c.962G>A
n.588G>A
c.1689G>A (p.Leu563=)
c.561G>A (p.Leu187=)
17g.46066595A>CCA399986421KANSL1c.1790T>G (p.Leu597Arg)
n.516T>G
c.524T>G (p.Leu175Arg)
n.2028T>G
c.961T>G
n.587T>G
c.1688T>G (p.Leu563Arg)
c.560T>G (p.Leu187Arg)
 gnomAD v4
17g.46066595A>GCA399986423KANSL1c.1790T>C (p.Leu597Pro)
n.516T>C
c.524T>C (p.Leu175Pro)
n.2028T>C
c.961T>C
n.587T>C
c.1688T>C (p.Leu563Pro)
c.560T>C (p.Leu187Pro)
17g.46066595A>TCA399986425KANSL1c.1790T>A (p.Leu597Gln)
n.516T>A
c.524T>A (p.Leu175Gln)
n.2028T>A
c.961T>A
n.587T>A
c.1688T>A (p.Leu563Gln)
c.560T>A (p.Leu187Gln)
17g.46066596G>ACA500370762KANSL1c.1789C>T (p.Leu597=)
n.515C>T
c.523C>T (p.Leu175=)
n.2027C>T
c.960C>T
n.586C>T
c.1687C>T (p.Leu563=)
c.559C>T (p.Leu187=)
 gnomAD v4
17g.46066596G>CCA399986428KANSL1c.1789C>G (p.Leu597Val)
n.515C>G
c.523C>G (p.Leu175Val)
n.2027C>G
c.960C>G
n.586C>G
c.1687C>G (p.Leu563Val)
c.559C>G (p.Leu187Val)
17g.46066596G>TCA399986429KANSL1c.1789C>A (p.Leu597Met)
n.515C>A
c.523C>A (p.Leu175Met)
n.2027C>A
c.960C>A
n.586C>A
c.1687C>A (p.Leu563Met)
c.559C>A (p.Leu187Met)
17g.46066597T>ACA500370765KANSL1c.1788A>T (p.Val596=)
n.514A>T
c.522A>T (p.Val174=)
n.2026A>T
c.959A>T
n.585A>T
c.1686A>T (p.Val562=)
c.558A>T (p.Val186=)
17g.46066597T>CCA500370764KANSL1c.1788A>G (p.Val596=)
n.514A>G
c.522A>G (p.Val174=)
n.2026A>G
c.959A>G
n.585A>G
c.1686A>G (p.Val562=)
c.558A>G (p.Val186=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46066597T>GCA500370763KANSL1c.1788A>C (p.Val596=)
n.514A>C
c.522A>C (p.Val174=)
n.2026A>C
c.959A>C
n.585A>C
c.1686A>C (p.Val562=)
c.558A>C (p.Val186=)
17g.46066597T=CA2262127389KANSL1c.1788A= (p.Val596=)
n.514A=
c.522A= (p.Val174=)
n.2026A=
c.959A=
n.585A=
c.1686A= (p.Val562=)
c.558A= (p.Val186=)
17g.46066598A>CCA399986432KANSL1c.1787T>G (p.Val596Gly)
n.513T>G
c.521T>G (p.Val174Gly)
n.2025T>G
c.958T>G
n.584T>G
c.1685T>G (p.Val562Gly)
c.557T>G (p.Val186Gly)
17g.46066598A>GCA399986436KANSL1c.1787T>C (p.Val596Ala)
n.513T>C
c.521T>C (p.Val174Ala)
n.2025T>C
c.958T>C
n.584T>C
c.1685T>C (p.Val562Ala)
c.557T>C (p.Val186Ala)
17g.46066598A>TCA399986434KANSL1c.1787T>A (p.Val596Glu)
n.513T>A
c.521T>A (p.Val174Glu)
n.2025T>A
c.958T>A
n.584T>A
c.1685T>A (p.Val562Glu)
c.557T>A (p.Val186Glu)
17g.46066599C>ACA399986438KANSL1c.1786G>T (p.Val596Leu)
n.512G>T
c.520G>T (p.Val174Leu)
n.2024G>T
c.957G>T
n.583G>T
c.1684G>T (p.Val562Leu)
c.556G>T (p.Val186Leu)
 dbSNP gnomAD v2
17g.46066599C=CA2262127390KANSL1c.1786G= (p.Val596=)
n.512G=
c.520G= (p.Val174=)
n.2024G=
c.957G=
n.583G=
c.1684G= (p.Val562=)
c.556G= (p.Val186=)
17g.46066599C>GCA399986440KANSL1c.1786G>C (p.Val596Leu)
n.512G>C
c.520G>C (p.Val174Leu)
n.2024G>C
c.957G>C
n.583G>C
c.1684G>C (p.Val562Leu)
c.556G>C (p.Val186Leu)
17g.46066599C>TCA399986441KANSL1c.1786G>A (p.Val596Ile)
n.512G>A
c.520G>A (p.Val174Ile)
n.2024G>A
c.957G>A
n.583G>A
c.1684G>A (p.Val562Ile)
c.556G>A (p.Val186Ile)
17g.46066600A>CCA500370768KANSL1c.1785T>G (p.Pro595=)
n.511T>G
c.519T>G (p.Pro173=)
n.2023T>G
c.956T>G
n.582T>G
c.1683T>G (p.Pro561=)
c.555T>G (p.Pro185=)
17g.46066600A>GCA500370767KANSL1c.1785T>C (p.Pro595=)
n.511T>C
c.519T>C (p.Pro173=)
n.2023T>C
c.956T>C
n.582T>C
c.1683T>C (p.Pro561=)
c.555T>C (p.Pro185=)
17g.46066600A>TCA500370766KANSL1c.1785T>A (p.Pro595=)
n.511T>A
c.519T>A (p.Pro173=)
n.2023T>A
c.956T>A
n.582T>A
c.1683T>A (p.Pro561=)
c.555T>A (p.Pro185=)
17g.46066601G>ACA399986444KANSL1c.1784C>T (p.Pro595Leu)
n.510C>T
c.518C>T (p.Pro173Leu)
n.2022C>T
c.955C>T
n.581C>T
c.1682C>T (p.Pro561Leu)
c.554C>T (p.Pro185Leu)
17g.46066601G>CCA399986446KANSL1c.1784C>G (p.Pro595Arg)
n.510C>G
c.518C>G (p.Pro173Arg)
n.2022C>G
c.955C>G
n.581C>G
c.1682C>G (p.Pro561Arg)
c.554C>G (p.Pro185Arg)
17g.46066601G>TCA399986447KANSL1c.1784C>A (p.Pro595His)
n.510C>A
c.518C>A (p.Pro173His)
n.2022C>A
c.955C>A
n.581C>A
c.1682C>A (p.Pro561His)
c.554C>A (p.Pro185His)
17g.46066602G>ACA399986450KANSL1c.1783C>T (p.Pro595Ser)
n.509C>T
c.517C>T (p.Pro173Ser)
n.2021C>T
c.954C>T
n.580C>T
c.1681C>T (p.Pro561Ser)
c.553C>T (p.Pro185Ser)
17g.46066602G>CCA291125567KANSL1c.1783C>G (p.Pro595Ala)
n.509C>G
c.517C>G (p.Pro173Ala)
n.2021C>G
c.954C>G
n.580C>G
c.1681C>G (p.Pro561Ala)
c.553C>G (p.Pro185Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.46066602G=CA2262127391KANSL1c.1783C= (p.Pro595=)
n.509C=
c.517C= (p.Pro173=)
n.2021C=
c.954C=
n.580C=
c.1681C= (p.Pro561=)
c.553C= (p.Pro185=)
17g.46066602G>TCA399986452KANSL1c.1783C>A (p.Pro595Thr)
n.509C>A
c.517C>A (p.Pro173Thr)
n.2021C>A
c.954C>A
n.580C>A
c.1681C>A (p.Pro561Thr)
c.553C>A (p.Pro185Thr)
17g.46066603A=CA2262127392KANSL1c.1782T= (p.Arg594=)
n.508T=
c.516T= (p.Arg172=)
n.2020T=
c.953T=
n.579T=
c.1680T= (p.Arg560=)
c.552T= (p.Arg184=)
17g.46066603A>CCA500370771KANSL1c.1782T>G (p.Arg594=)
n.508T>G
c.516T>G (p.Arg172=)
n.2020T>G
c.953T>G
n.579T>G
c.1680T>G (p.Arg560=)
c.552T>G (p.Arg184=)
17g.46066603A>GCA500370769KANSL1c.1782T>C (p.Arg594=)
n.508T>C
c.516T>C (p.Arg172=)
n.2020T>C
c.953T>C
n.579T>C
c.1680T>C (p.Arg560=)
c.552T>C (p.Arg184=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46066603A>TCA500370770KANSL1c.1782T>A (p.Arg594=)
n.508T>A
c.516T>A (p.Arg172=)
n.2020T>A
c.953T>A
n.579T>A
c.1680T>A (p.Arg560=)
c.552T>A (p.Arg184=)
17g.46066604C>ACA399986454KANSL1c.1781G>T (p.Arg594Leu)
n.507G>T
c.515G>T (p.Arg172Leu)
n.2019G>T
c.952G>T
n.578G>T
c.1679G>T (p.Arg560Leu)
c.551G>T (p.Arg184Leu)
 COSMIC
17g.46066604C=CA2262127393KANSL1c.1781G= (p.Arg594=)
n.507G=
c.515G= (p.Arg172=)
n.2019G=
c.952G=
n.578G=
c.1679G= (p.Arg560=)
c.551G= (p.Arg184=)
17g.46066604C>GCA399986456KANSL1c.1781G>C (p.Arg594Pro)
n.507G>C
c.515G>C (p.Arg172Pro)
n.2019G>C
c.952G>C
n.578G>C
c.1679G>C (p.Arg560Pro)
c.551G>C (p.Arg184Pro)
 ClinVar dbSNP
17g.46066604C>TCA16607703KANSL1c.1781G>A (p.Arg594His)
n.507G>A
c.515G>A (p.Arg172His)
n.2019G>A
c.952G>A
n.578G>A
c.1679G>A (p.Arg560His)
c.551G>A (p.Arg184His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46066605G>ACA399986459KANSL1c.1780C>T (p.Arg594Cys)
n.506C>T
c.514C>T (p.Arg172Cys)
n.2018C>T
c.951C>T
n.577C>T
c.1678C>T (p.Arg560Cys)
c.550C>T (p.Arg184Cys)
 dbSNP gnomAD v3 gnomAD v4
17g.46066605G>CCA399986463KANSL1c.1780C>G (p.Arg594Gly)
n.506C>G
c.514C>G (p.Arg172Gly)
n.2018C>G
c.951C>G
n.577C>G
c.1678C>G (p.Arg560Gly)
c.550C>G (p.Arg184Gly)
17g.46066605G=CA2262127394KANSL1c.1780C= (p.Arg594=)
n.506C=
c.514C= (p.Arg172=)
n.2018C=
c.951C=
n.577C=
c.1678C= (p.Arg560=)
c.550C= (p.Arg184=)
17g.46066605G>TCA399986460KANSL1c.1780C>A (p.Arg594Ser)
n.506C>A
c.514C>A (p.Arg172Ser)
n.2018C>A
c.951C>A
n.577C>A
c.1678C>A (p.Arg560Ser)
c.550C>A (p.Arg184Ser)
17g.46066606T>ACA500370772KANSL1c.1779A>T (p.Thr593=)
n.505A>T
c.513A>T (p.Thr171=)
n.2017A>T
c.950A>T
n.576A>T
c.1677A>T (p.Thr559=)
c.549A>T (p.Thr183=)
17g.46066606T>CCA8618732KANSL1c.1779A>G (p.Thr593=)
n.505A>G
c.513A>G (p.Thr171=)
n.2017A>G
c.950A>G
n.576A>G
c.1677A>G (p.Thr559=)
c.549A>G (p.Thr183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46066606T>GCA291125570KANSL1c.1779A>C (p.Thr593=)
n.505A>C
c.513A>C (p.Thr171=)
n.2017A>C
c.950A>C
n.576A>C
c.1677A>C (p.Thr559=)
c.549A>C (p.Thr183=)
 dbSNP
17g.46066606T=CA2262127395KANSL1c.1779A= (p.Thr593=)
n.505A=
c.513A= (p.Thr171=)
n.2017A=
c.950A=
n.576A=
c.1677A= (p.Thr559=)
c.549A= (p.Thr183=)
17g.46066607G>ACA399986467KANSL1c.1778C>T (p.Thr593Ile)
n.504C>T
c.512C>T (p.Thr171Ile)
n.2016C>T
c.949C>T
n.575C>T
c.1676C>T (p.Thr559Ile)
c.548C>T (p.Thr183Ile)
17g.46066607G>CCA399986468KANSL1c.1778C>G (p.Thr593Arg)
n.504C>G
c.512C>G (p.Thr171Arg)
n.2016C>G
c.949C>G
n.575C>G
c.1676C>G (p.Thr559Arg)
c.548C>G (p.Thr183Arg)
17g.46066607G>TCA399986469KANSL1c.1778C>A (p.Thr593Lys)
n.504C>A
c.512C>A (p.Thr171Lys)
n.2016C>A
c.949C>A
n.575C>A
c.1676C>A (p.Thr559Lys)
c.548C>A (p.Thr183Lys)
17g.46066608T>ACA399986470KANSL1c.1777A>T (p.Thr593Ser)
n.503A>T
c.511A>T (p.Thr171Ser)
n.2015A>T
c.948A>T
n.574A>T
c.1675A>T (p.Thr559Ser)
c.547A>T (p.Thr183Ser)
17g.46066608T>CCA399986471KANSL1c.1777A>G (p.Thr593Ala)
n.503A>G
c.511A>G (p.Thr171Ala)
n.2015A>G
c.948A>G
n.574A>G
c.1675A>G (p.Thr559Ala)
c.547A>G (p.Thr183Ala)
 gnomAD v4
17g.46066608T>GCA399986474KANSL1c.1777A>C (p.Thr593Pro)
n.503A>C
c.511A>C (p.Thr171Pro)
n.2015A>C
c.948A>C
n.574A>C
c.1675A>C (p.Thr559Pro)
c.547A>C (p.Thr183Pro)
17g.46066609C>ACA500370773KANSL1c.1776G>T (p.Arg592=)
n.502G>T
c.510G>T (p.Arg170=)
n.2014G>T
c.947G>T
n.573G>T
c.1674G>T (p.Arg558=)
c.546G>T (p.Arg182=)
17g.46066609C>GCA500370774KANSL1c.1776G>C (p.Arg592=)
n.502G>C
c.510G>C (p.Arg170=)
n.2014G>C
c.947G>C
n.573G>C
c.1674G>C (p.Arg558=)
c.546G>C (p.Arg182=)
17g.46066609C>TCA500370775KANSL1c.1776G>A (p.Arg592=)
n.502G>A
c.510G>A (p.Arg170=)
n.2014G>A
c.947G>A
n.573G>A
c.1674G>A (p.Arg558=)
c.546G>A (p.Arg182=)
17g.46066610dupCA658781640KANSL1c.1776dup (p.Thr593AspfsTer8)
n.502dup
c.510dup (p.Thr171AspfsTer8)
n.2014dup
c.947dup
n.573dup
c.1674dup (p.Thr559AspfsTer8)
c.546dup (p.Thr183AspfsTer8)
17g.46066610C>ACA399986475KANSL1c.1775G>T (p.Arg592Leu)
n.501G>T
c.509G>T (p.Arg170Leu)
n.2013G>T
c.946G>T
n.572G>T
c.1673G>T (p.Arg558Leu)
c.545G>T (p.Arg182Leu)
17g.46066610C>GCA399986476KANSL1c.1775G>C (p.Arg592Pro)
n.501G>C
c.509G>C (p.Arg170Pro)
n.2013G>C
c.946G>C
n.572G>C
c.1673G>C (p.Arg558Pro)
c.545G>C (p.Arg182Pro)
17g.46066610C>TCA399986478KANSL1c.1775G>A (p.Arg592Gln)
n.501G>A
c.509G>A (p.Arg170Gln)
n.2013G>A
c.946G>A
n.572G>A
c.1673G>A (p.Arg558Gln)
c.545G>A (p.Arg182Gln)
 ClinVar COSMIC
17g.46066611G>ACA399986479KANSL1c.1774C>T (p.Arg592Trp)
n.500C>T
c.508C>T (p.Arg170Trp)
n.2012C>T
c.945C>T
n.571C>T
c.1672C>T (p.Arg558Trp)
c.544C>T (p.Arg182Trp)
 ClinVar dbSNP
17g.46066611G>CCA399986481KANSL1c.1774C>G (p.Arg592Gly)
n.500C>G
c.508C>G (p.Arg170Gly)
n.2012C>G
c.945C>G
n.571C>G
c.1672C>G (p.Arg558Gly)
c.544C>G (p.Arg182Gly)
 ClinVar dbSNP
17g.46066611G=CA2262127396KANSL1c.1774C= (p.Arg592=)
n.500C=
c.508C= (p.Arg170=)
n.2012C=
c.945C=
n.571C=
c.1672C= (p.Arg558=)
c.544C= (p.Arg182=)
17g.46066611G>TCA8618733KANSL1c.1774C>A (p.Arg592=)
n.500C>A
c.508C>A (p.Arg170=)
n.2012C>A
c.945C>A
n.571C>A
c.1672C>A (p.Arg558=)
c.544C>A (p.Arg182=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46066612G>ACA500370776KANSL1c.1773C>T (p.Ala591=)
n.499C>T
c.507C>T (p.Ala169=)
n.2011C>T
c.944C>T
n.570C>T
c.1671C>T (p.Ala557=)
c.543C>T (p.Ala181=)
17g.46066612G>CCA500370777KANSL1c.1773C>G (p.Ala591=)
n.499C>G
c.507C>G (p.Ala169=)
n.2011C>G
c.944C>G
n.570C>G
c.1671C>G (p.Ala557=)
c.543C>G (p.Ala181=)
 ClinVar dbSNP
17g.46066612G=CA2262127397KANSL1c.1773C= (p.Ala591=)
n.499C=
c.507C= (p.Ala169=)
n.2011C=
c.944C=
n.570C=
c.1671C= (p.Ala557=)
c.543C= (p.Ala181=)
17g.46066612G>TCA500370778KANSL1c.1773C>A (p.Ala591=)
n.499C>A
c.507C>A (p.Ala169=)
n.2011C>A
c.944C>A
n.570C>A
c.1671C>A (p.Ala557=)
c.543C>A (p.Ala181=)
17g.46066613G>ACA399986484KANSL1c.1772C>T (p.Ala591Val)
n.498C>T
c.506C>T (p.Ala169Val)
n.2010C>T
c.943C>T
n.569C>T
c.1670C>T (p.Ala557Val)
c.542C>T (p.Ala181Val)
17g.46066613G>CCA399986485KANSL1c.1772C>G (p.Ala591Gly)
n.498C>G
c.506C>G (p.Ala169Gly)
n.2010C>G
c.943C>G
n.569C>G
c.1670C>G (p.Ala557Gly)
c.542C>G (p.Ala181Gly)
17g.46066613G>TCA399986487KANSL1c.1772C>A (p.Ala591Asp)
n.498C>A
c.506C>A (p.Ala169Asp)
n.2010C>A
c.943C>A
n.569C>A
c.1670C>A (p.Ala557Asp)
c.542C>A (p.Ala181Asp)
17g.46066614C>ACA8618734KANSL1c.1771G>T (p.Ala591Ser)
n.497G>T
c.505G>T (p.Ala169Ser)
n.2009G>T
c.942G>T
n.568G>T
c.1669G>T (p.Ala557Ser)
c.541G>T (p.Ala181Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.46066614C=CA2262127398KANSL1c.1771G= (p.Ala591=)
n.497G=
c.505G= (p.Ala169=)
n.2009G=
c.942G=
n.568G=
c.1669G= (p.Ala557=)
c.541G= (p.Ala181=)
17g.46066614C>GCA399986489KANSL1c.1771G>C (p.Ala591Pro)
n.497G>C
c.505G>C (p.Ala169Pro)
n.2009G>C
c.942G>C
n.568G>C
c.1669G>C (p.Ala557Pro)
c.541G>C (p.Ala181Pro)
17g.46066614C>TCA399986491KANSL1c.1771G>A (p.Ala591Thr)
n.497G>A
c.505G>A (p.Ala169Thr)
n.2009G>A
c.942G>A
n.568G>A
c.1669G>A (p.Ala557Thr)
c.541G>A (p.Ala181Thr)
 ClinVar
17g.46066615T>ACA500370779KANSL1c.1770A>T (p.Ala590=)
n.496A>T
c.504A>T (p.Ala168=)
n.2008A>T
c.941A>T
n.567A>T
c.1668A>T (p.Ala556=)
c.540A>T (p.Ala180=)
17g.46066615T>CCA500370781KANSL1c.1770A>G (p.Ala590=)
n.496A>G
c.504A>G (p.Ala168=)
n.2008A>G
c.941A>G
n.567A>G
c.1668A>G (p.Ala556=)
c.540A>G (p.Ala180=)
 dbSNP gnomAD v2 gnomAD v4
17g.46066615T>GCA500370780KANSL1c.1770A>C (p.Ala590=)
n.496A>C
c.504A>C (p.Ala168=)
n.2008A>C
c.941A>C
n.567A>C
c.1668A>C (p.Ala556=)
c.540A>C (p.Ala180=)
 dbSNP gnomAD v2 gnomAD v4
17g.46066615T=CA2262127399KANSL1c.1770A= (p.Ala590=)
n.496A=
c.504A= (p.Ala168=)
n.2008A=
c.941A=
n.567A=
c.1668A= (p.Ala556=)
c.540A= (p.Ala180=)
17g.46066616G>ACA399986494KANSL1c.1769C>T (p.Ala590Val)
n.495C>T
c.503C>T (p.Ala168Val)
n.2007C>T
c.940C>T
n.566C>T
c.1667C>T (p.Ala556Val)
c.539C>T (p.Ala180Val)
17g.46066616G>CCA399986496KANSL1c.1769C>G (p.Ala590Gly)
n.495C>G
c.503C>G (p.Ala168Gly)
n.2007C>G
c.940C>G
n.566C>G
c.1667C>G (p.Ala556Gly)
c.539C>G (p.Ala180Gly)
17g.46066616G>TCA399986498KANSL1c.1769C>A (p.Ala590Glu)
n.495C>A
c.503C>A (p.Ala168Glu)
n.2007C>A
c.940C>A
n.566C>A
c.1667C>A (p.Ala556Glu)
c.539C>A (p.Ala180Glu)
17g.46066616_46066617delinsCTCA1139665667KANSL1c.1768_1769delinsAG (p.Ala590Arg)
n.494_495delinsAG
c.502_503delinsAG (p.Ala168Arg)
n.2006_2007delinsAG
c.939_940delinsAG
n.565_566delinsAG
c.1666_1667delinsAG (p.Ala556Arg)
c.538_539delinsAG (p.Ala180Arg)
 ClinVar dbSNP
17g.46066616_46066617delinsGCCA2262127400KANSL1c.1768_1769delinsGC (p.Ala590=)
n.494_495delinsGC
c.502_503delinsGC (p.Ala168=)
n.2006_2007delinsGC
c.939_940delinsGC
n.565_566delinsGC
c.1666_1667delinsGC (p.Ala556=)
c.538_539delinsGC (p.Ala180=)
17g.46066616_46066620delCA2695226195KANSL1c.1765_1769del (p.Val589SerfsTer10)
n.491_495del
c.499_503del (p.Val167SerfsTer10)
n.2003_2007del
c.936_940del
n.562_566del
c.1663_1667del (p.Val555SerfsTer10)
c.535_539del (p.Val179SerfsTer10)
17g.46066617C>ACA399986500KANSL1c.1768G>T (p.Ala590Ser)
n.494G>T
c.502G>T (p.Ala168Ser)
n.2006G>T
c.939G>T
n.565G>T
c.1666G>T (p.Ala556Ser)
c.538G>T (p.Ala180Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46066617C=CA2262127401KANSL1c.1768G= (p.Ala590=)
n.494G=
c.502G= (p.Ala168=)
n.2006G=
c.939G=
n.565G=
c.1666G= (p.Ala556=)
c.538G= (p.Ala180=)
17g.46066617C>GCA399986502KANSL1c.1768G>C (p.Ala590Pro)
n.494G>C
c.502G>C (p.Ala168Pro)
n.2006G>C
c.939G>C
n.565G>C
c.1666G>C (p.Ala556Pro)
c.538G>C (p.Ala180Pro)
17g.46066617C>TCA399986504KANSL1c.1768G>A (p.Ala590Thr)
n.494G>A
c.502G>A (p.Ala168Thr)
n.2006G>A
c.939G>A
n.565G>A
c.1666G>A (p.Ala556Thr)
c.538G>A (p.Ala180Thr)
17g.46066618C>ACA500370783KANSL1c.1767G>T (p.Val589=)
n.493G>T
c.501G>T (p.Val167=)
n.2005G>T
c.938G>T
n.564G>T
c.1665G>T (p.Val555=)
c.537G>T (p.Val179=)
17g.46066618C>GCA500370782KANSL1c.1767G>C (p.Val589=)
n.493G>C
c.501G>C (p.Val167=)
n.2005G>C
c.938G>C
n.564G>C
c.1665G>C (p.Val555=)
c.537G>C (p.Val179=)
17g.46066618C>TCA500370784KANSL1c.1767G>A (p.Val589=)
n.493G>A
c.501G>A (p.Val167=)
n.2005G>A
c.938G>A
n.564G>A
c.1665G>A (p.Val555=)
c.537G>A (p.Val179=)
17g.46066619A>CCA399986508KANSL1c.1766T>G (p.Val589Gly)
n.492T>G
c.500T>G (p.Val167Gly)
n.2004T>G
c.937T>G
n.563T>G
c.1664T>G (p.Val555Gly)
c.536T>G (p.Val179Gly)
17g.46066619A>GCA399986510KANSL1c.1766T>C (p.Val589Ala)
n.492T>C
c.500T>C (p.Val167Ala)
n.2004T>C
c.937T>C
n.563T>C
c.1664T>C (p.Val555Ala)
c.536T>C (p.Val179Ala)
17g.46066619A>TCA399986507KANSL1c.1766T>A (p.Val589Glu)
n.492T>A
c.500T>A (p.Val167Glu)
n.2004T>A
c.937T>A
n.563T>A
c.1664T>A (p.Val555Glu)
c.536T>A (p.Val179Glu)
17g.46066620C>ACA399986512KANSL1c.1765G>T (p.Val589Leu)
n.491G>T
c.499G>T (p.Val167Leu)
n.2003G>T
c.936G>T
n.562G>T
c.1663G>T (p.Val555Leu)
c.535G>T (p.Val179Leu)
 ClinVar
17g.46066620C=CA2262127402KANSL1c.1765G= (p.Val589=)
n.491G=
c.499G= (p.Val167=)
n.2003G=
c.936G=
n.562G=
c.1663G= (p.Val555=)
c.535G= (p.Val179=)
17g.46066620C>GCA399986515KANSL1c.1765G>C (p.Val589Leu)
n.491G>C
c.499G>C (p.Val167Leu)
n.2003G>C
c.936G>C
n.562G>C
c.1663G>C (p.Val555Leu)
c.535G>C (p.Val179Leu)
17g.46066620C>TCA399986516KANSL1c.1765G>A (p.Val589Met)
n.491G>A
c.499G>A (p.Val167Met)
n.2003G>A
c.936G>A
n.562G>A
c.1663G>A (p.Val555Met)
c.535G>A (p.Val179Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.46066621A>CCA399986521KANSL1c.1764T>G (p.Cys588Trp)
n.490T>G
c.498T>G (p.Cys166Trp)
n.2002T>G
c.935T>G
n.561T>G
c.1662T>G (p.Cys554Trp)
c.534T>G (p.Cys178Trp)
17g.46066621A>GCA500370785KANSL1c.1764T>C (p.Cys588=)
n.490T>C
c.498T>C (p.Cys166=)
n.2002T>C
c.935T>C
n.561T>C
c.1662T>C (p.Cys554=)
c.534T>C (p.Cys178=)
17g.46066621A>TCA399986524KANSL1c.1764T>A (p.Cys588Ter)
n.490T>A
c.498T>A (p.Cys166Ter)
n.2002T>A
c.935T>A
n.561T>A
c.1662T>A (p.Cys554Ter)
c.534T>A (p.Cys178Ter)
17g.46066622C>ACA399986537KANSL1c.1763G>T (p.Cys588Phe)
n.489G>T
c.497G>T (p.Cys166Phe)
n.2001G>T
c.934G>T
n.560G>T
c.1661G>T (p.Cys554Phe)
c.533G>T (p.Cys178Phe)
17g.46066622C=CA2262127403KANSL1c.1763G= (p.Cys588=)
n.489G=
c.497G= (p.Cys166=)
n.2001G=
c.934G=
n.560G=
c.1661G= (p.Cys554=)
c.533G= (p.Cys178=)
17g.46066622C>GCA399986531KANSL1c.1763G>C (p.Cys588Ser)
n.489G>C
c.497G>C (p.Cys166Ser)
n.2001G>C
c.934G>C
n.560G>C
c.1661G>C (p.Cys554Ser)
c.533G>C (p.Cys178Ser)
 dbSNP gnomAD v2 gnomAD v4
17g.46066622C>TCA399986534KANSL1c.1763G>A (p.Cys588Tyr)
n.489G>A
c.497G>A (p.Cys166Tyr)
n.2001G>A
c.934G>A
n.560G>A
c.1661G>A (p.Cys554Tyr)
c.533G>A (p.Cys178Tyr)
 dbSNP gnomAD v3 gnomAD v4
17g.46066623A=CA2262127404KANSL1c.1762T= (p.Cys588=)
n.488T=
c.496T= (p.Cys166=)
n.2000T=
c.933T=
n.559T=
c.1660T= (p.Cys554=)
c.532T= (p.Cys178=)
17g.46066623A>CCA399986541KANSL1c.1762T>G (p.Cys588Gly)
n.488T>G
c.496T>G (p.Cys166Gly)
n.2000T>G
c.933T>G
n.559T>G
c.1660T>G (p.Cys554Gly)
c.532T>G (p.Cys178Gly)
17g.46066623A>GCA8618735KANSL1c.1762T>C (p.Cys588Arg)
n.488T>C
c.496T>C (p.Cys166Arg)
n.2000T>C
c.933T>C
n.559T>C
c.1660T>C (p.Cys554Arg)
c.532T>C (p.Cys178Arg)
 dbSNP ExAC gnomAD v2
17g.46066623A>TCA399986545KANSL1c.1762T>A (p.Cys588Ser)
n.488T>A
c.496T>A (p.Cys166Ser)
n.2000T>A
c.933T>A
n.559T>A
c.1660T>A (p.Cys554Ser)
c.532T>A (p.Cys178Ser)
17g.46066624G>ACA500370786KANSL1c.1761C>T (p.Thr587=)
n.487C>T
c.495C>T (p.Thr165=)
n.1999C>T
c.932C>T
n.558C>T
c.1659C>T (p.Thr553=)
c.531C>T (p.Thr177=)
17g.46066624G>CCA500370788KANSL1c.1761C>G (p.Thr587=)
n.487C>G
c.495C>G (p.Thr165=)
n.1999C>G
c.932C>G
n.558C>G
c.1659C>G (p.Thr553=)
c.531C>G (p.Thr177=)
17g.46066624G>TCA500370787KANSL1c.1761C>A (p.Thr587=)
n.487C>A
c.495C>A (p.Thr165=)
n.1999C>A
c.932C>A
n.558C>A
c.1659C>A (p.Thr553=)
c.531C>A (p.Thr177=)
17g.46066625G>ACA399986549KANSL1c.1760C>T (p.Thr587Ile)
n.486C>T
c.494C>T (p.Thr165Ile)
n.1998C>T
c.931C>T
n.557C>T
c.1658C>T (p.Thr553Ile)
c.530C>T (p.Thr177Ile)
 gnomAD v4
17g.46066625G>CCA399986552KANSL1c.1760C>G (p.Thr587Ser)
n.486C>G
c.494C>G (p.Thr165Ser)
n.1998C>G
c.931C>G
n.557C>G
c.1658C>G (p.Thr553Ser)
c.530C>G (p.Thr177Ser)
17g.46066625G=CA2262127405KANSL1c.1760C= (p.Thr587=)
n.486C=
c.494C= (p.Thr165=)
n.1998C=
c.931C=
n.557C=
c.1658C= (p.Thr553=)
c.530C= (p.Thr177=)
17g.46066625G>TCA399986555KANSL1c.1760C>A (p.Thr587Asn)
n.486C>A
c.494C>A (p.Thr165Asn)
n.1998C>A
c.931C>A
n.557C>A
c.1658C>A (p.Thr553Asn)
c.530C>A (p.Thr177Asn)
 ClinVar dbSNP
17g.46066626T>ACA399986562KANSL1c.1759A>T (p.Thr587Ser)
n.485A>T
c.493A>T (p.Thr165Ser)
n.1997A>T
c.930A>T
n.556A>T
c.1657A>T (p.Thr553Ser)
c.529A>T (p.Thr177Ser)
17g.46066626T>CCA399986564KANSL1c.1759A>G (p.Thr587Ala)
n.485A>G
c.493A>G (p.Thr165Ala)
n.1997A>G
c.930A>G
n.556A>G
c.1657A>G (p.Thr553Ala)
c.529A>G (p.Thr177Ala)
17g.46066626T>GCA399986559KANSL1c.1759A>C (p.Thr587Pro)
n.485A>C
c.493A>C (p.Thr165Pro)
n.1997A>C
c.930A>C
n.556A>C
c.1657A>C (p.Thr553Pro)
c.529A>C (p.Thr177Pro)
17g.46066627G>ACA500370790KANSL1c.1758C>T (p.Gly586=)
n.484C>T
c.492C>T (p.Gly164=)
n.1996C>T
c.929C>T
n.555C>T
c.1656C>T (p.Gly552=)
c.528C>T (p.Gly176=)
 dbSNP gnomAD v3 gnomAD v4
17g.46066627G>CCA500370789KANSL1c.1758C>G (p.Gly586=)
n.484C>G
c.492C>G (p.Gly164=)
n.1996C>G
c.929C>G
n.555C>G
c.1656C>G (p.Gly552=)
c.528C>G (p.Gly176=)
17g.46066627G=CA2262127406KANSL1c.1758C= (p.Gly586=)
n.484C=
c.492C= (p.Gly164=)
n.1996C=
c.929C=
n.555C=
c.1656C= (p.Gly552=)
c.528C= (p.Gly176=)
17g.46066627G>TCA500370791KANSL1c.1758C>A (p.Gly586=)
n.484C>A
c.492C>A (p.Gly164=)
n.1996C>A
c.929C>A
n.555C>A
c.1656C>A (p.Gly552=)
c.528C>A (p.Gly176=)
17g.46066628C>ACA399986568KANSL1c.1757G>T (p.Gly586Val)
n.483G>T
c.491G>T (p.Gly164Val)
n.1995G>T
c.928G>T
n.554G>T
c.1655G>T (p.Gly552Val)
c.527G>T (p.Gly176Val)
17g.46066628C>GCA399986567KANSL1c.1757G>C (p.Gly586Ala)
n.483G>C
c.491G>C (p.Gly164Ala)
n.1995G>C
c.928G>C
n.554G>C
c.1655G>C (p.Gly552Ala)
c.527G>C (p.Gly176Ala)
17g.46066628C>TCA399986572KANSL1c.1757G>A (p.Gly586Asp)
n.483G>A
c.491G>A (p.Gly164Asp)
n.1995G>A
c.928G>A
n.554G>A
c.1655G>A (p.Gly552Asp)
c.527G>A (p.Gly176Asp)
17g.46066629C>ACA399986576KANSL1c.1756G>T (p.Gly586Cys)
n.482G>T
c.490G>T (p.Gly164Cys)
n.1994G>T
c.927G>T
n.553G>T
c.1654G>T (p.Gly552Cys)
c.526G>T (p.Gly176Cys)
17g.46066629C>GCA399986582KANSL1c.1756G>C (p.Gly586Arg)
n.482G>C
c.490G>C (p.Gly164Arg)
n.1994G>C
c.927G>C
n.553G>C
c.1654G>C (p.Gly552Arg)
c.526G>C (p.Gly176Arg)
17g.46066629C>TCA399986579KANSL1c.1756G>A (p.Gly586Ser)
n.482G>A
c.490G>A (p.Gly164Ser)
n.1994G>A
c.927G>A
n.553G>A
c.1654G>A (p.Gly552Ser)
c.526G>A (p.Gly176Ser)
 ClinVar
17g.46066630A>CCA399986585KANSL1c.1755T>G (p.Asp585Glu)
n.481T>G
c.489T>G (p.Asp163Glu)
n.1993T>G
c.926T>G
n.552T>G
c.1653T>G (p.Asp551Glu)
c.525T>G (p.Asp175Glu)
17g.46066630A>GCA500370792KANSL1c.1755T>C (p.Asp585=)
n.481T>C
c.489T>C (p.Asp163=)
n.1993T>C
c.926T>C
n.552T>C
c.1653T>C (p.Asp551=)
c.525T>C (p.Asp175=)
 ClinVar
17g.46066630A>TCA399986590KANSL1c.1755T>A (p.Asp585Glu)
n.481T>A
c.489T>A (p.Asp163Glu)
n.1993T>A
c.926T>A
n.552T>A
c.1653T>A (p.Asp551Glu)
c.525T>A (p.Asp175Glu)
17g.46066631T>ACA399986594KANSL1c.1754A>T (p.Asp585Val)
n.480A>T
c.488A>T (p.Asp163Val)
n.1992A>T
c.925A>T
n.551A>T
c.1652A>T (p.Asp551Val)
c.524A>T (p.Asp175Val)
17g.46066631T>CCA399986596KANSL1c.1754A>G (p.Asp585Gly)
n.480A>G
c.488A>G (p.Asp163Gly)
n.1992A>G
c.925A>G
n.551A>G
c.1652A>G (p.Asp551Gly)
c.524A>G (p.Asp175Gly)
17g.46066631T>GCA399986598KANSL1c.1754A>C (p.Asp585Ala)
n.480A>C
c.488A>C (p.Asp163Ala)
n.1992A>C
c.925A>C
n.551A>C
c.1652A>C (p.Asp551Ala)
c.524A>C (p.Asp175Ala)
17g.46066632C>ACA399986600KANSL1c.1753G>T (p.Asp585Tyr)
n.479G>T
c.487G>T (p.Asp163Tyr)
n.1991G>T
c.924G>T
n.550G>T
c.1651G>T (p.Asp551Tyr)
c.523G>T (p.Asp175Tyr)
 gnomAD v4
17g.46066632C=CA2262127407KANSL1c.1753G= (p.Asp585=)
n.479G=
c.487G= (p.Asp163=)
n.1991G=
c.924G=
n.550G=
c.1651G= (p.Asp551=)
c.523G= (p.Asp175=)
17g.46066632C>GCA399986602KANSL1c.1753G>C (p.Asp585His)
n.479G>C
c.487G>C (p.Asp163His)
n.1991G>C
c.924G>C
n.550G>C
c.1651G>C (p.Asp551His)
c.523G>C (p.Asp175His)
 ClinVar
17g.46066632C>TCA399986604KANSL1c.1753G>A (p.Asp585Asn)
n.479G>A
c.487G>A (p.Asp163Asn)
n.1991G>A
c.924G>A
n.550G>A
c.1651G>A (p.Asp551Asn)
c.523G>A (p.Asp175Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46066633A=CA2262127408KANSL1c.1752T= (p.Ser584=)
n.478T=
c.486T= (p.Ser162=)
n.1990T=
c.923T=
n.549T=
c.1650T= (p.Ser550=)
c.522T= (p.Ser174=)
17g.46066633A>CCA500370798KANSL1c.1752T>G (p.Ser584=)
n.478T>G
c.486T>G (p.Ser162=)
n.1990T>G
c.923T>G
n.549T>G
c.1650T>G (p.Ser550=)
c.522T>G (p.Ser174=)
17g.46066633A>GCA500370795KANSL1c.1752T>C (p.Ser584=)
n.478T>C
c.486T>C (p.Ser162=)
n.1990T>C
c.923T>C
n.549T>C
c.1650T>C (p.Ser550=)
c.522T>C (p.Ser174=)
17g.46066633A>TCA500370796KANSL1c.1752T>A (p.Ser584=)
n.478T>A
c.486T>A (p.Ser162=)
n.1990T>A
c.923T>A
n.549T>A
c.1650T>A (p.Ser550=)
c.522T>A (p.Ser174=)
 dbSNP gnomAD v2 gnomAD v4
17g.46066634G>ACA8618736KANSL1c.1751C>T (p.Ser584Phe)
n.477C>T
c.485C>T (p.Ser162Phe)
n.1989C>T
c.922C>T
n.548C>T
c.1649C>T (p.Ser550Phe)
c.521C>T (p.Ser174Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46066634G>CCA399986612KANSL1c.1751C>G (p.Ser584Cys)
n.477C>G
c.485C>G (p.Ser162Cys)
n.1989C>G
c.922C>G
n.548C>G
c.1649C>G (p.Ser550Cys)
c.521C>G (p.Ser174Cys)
17g.46066634G=CA2262127409KANSL1c.1751C= (p.Ser584=)
n.477C=
c.485C= (p.Ser162=)
n.1989C=
c.922C=
n.548C=
c.1649C= (p.Ser550=)
c.521C= (p.Ser174=)
17g.46066634G>TCA399986615KANSL1c.1751C>A (p.Ser584Tyr)
n.477C>A
c.485C>A (p.Ser162Tyr)
n.1989C>A
c.922C>A
n.548C>A
c.1649C>A (p.Ser550Tyr)
c.521C>A (p.Ser174Tyr)
17g.46066635A>CCA399986627KANSL1c.1750T>G (p.Ser584Ala)
n.476T>G
c.484T>G (p.Ser162Ala)
n.1988T>G
c.921T>G
n.547T>G
c.1648T>G (p.Ser550Ala)
c.520T>G (p.Ser174Ala)
17g.46066635A>GCA399986624KANSL1c.1750T>C (p.Ser584Pro)
n.476T>C
c.484T>C (p.Ser162Pro)
n.1988T>C
c.921T>C
n.547T>C
c.1648T>C (p.Ser550Pro)
c.520T>C (p.Ser174Pro)
17g.46066635A>TCA399986621KANSL1c.1750T>A (p.Ser584Thr)
n.476T>A
c.484T>A (p.Ser162Thr)
n.1988T>A
c.921T>A
n.547T>A
c.1648T>A (p.Ser550Thr)
c.520T>A (p.Ser174Thr)
17g.46066636T>ACA500370804KANSL1c.1749A>T (p.Ser583=)
n.475A>T
c.483A>T (p.Ser161=)
n.1987A>T
c.920A>T
n.546A>T
c.1647A>T (p.Ser549=)
c.519A>T (p.Ser173=)
17g.46066636T>CCA500370805KANSL1c.1749A>G (p.Ser583=)
n.475A>G
c.483A>G (p.Ser161=)
n.1987A>G
c.920A>G
n.546A>G
c.1647A>G (p.Ser549=)
c.519A>G (p.Ser173=)
17g.46066636T>GCA500370802KANSL1c.1749A>C (p.Ser583=)
n.475A>C
c.483A>C (p.Ser161=)
n.1987A>C
c.920A>C
n.546A>C
c.1647A>C (p.Ser549=)
c.519A>C (p.Ser173=)
17g.46066637G>ACA399986631KANSL1c.1748C>T (p.Ser583Leu)
n.474C>T
c.482C>T (p.Ser161Leu)
n.1986C>T
c.919C>T
n.545C>T
c.1646C>T (p.Ser549Leu)
c.518C>T (p.Ser173Leu)
 dbSNP gnomAD v2
17g.46066637G>CCA399986633KANSL1c.1748C>G (p.Ser583Ter)
n.474C>G
c.482C>G (p.Ser161Ter)
n.1986C>G
c.919C>G
n.545C>G
c.1646C>G (p.Ser549Ter)
c.518C>G (p.Ser173Ter)
17g.46066637G=CA2262127410KANSL1c.1748C= (p.Ser583=)
n.474C=
c.482C= (p.Ser161=)
n.1986C=
c.919C=
n.545C=
c.1646C= (p.Ser549=)
c.518C= (p.Ser173=)
17g.46066637G>TCA399986637KANSL1c.1748C>A (p.Ser583Ter)
n.474C>A
c.482C>A (p.Ser161Ter)
n.1986C>A
c.919C>A
n.545C>A
c.1646C>A (p.Ser549Ter)
c.518C>A (p.Ser173Ter)
17g.46066638A>CCA399986641KANSL1c.1747T>G (p.Ser583Ala)
n.473T>G
c.481T>G (p.Ser161Ala)
n.1985T>G
c.918T>G
n.544T>G
c.1645T>G (p.Ser549Ala)
c.517T>G (p.Ser173Ala)
17g.46066638A>GCA399986642KANSL1c.1747T>C (p.Ser583Pro)
n.473T>C
c.481T>C (p.Ser161Pro)
n.1985T>C
c.918T>C
n.544T>C
c.1645T>C (p.Ser549Pro)
c.517T>C (p.Ser173Pro)
17g.46066638A>TCA399986646KANSL1c.1747T>A (p.Ser583Thr)
n.473T>A
c.481T>A (p.Ser161Thr)
n.1985T>A
c.918T>A
n.544T>A
c.1645T>A (p.Ser549Thr)
c.517T>A (p.Ser173Thr)
17g.46066639T>ACA500370807KANSL1c.1746A>T (p.Ser582=)
n.472A>T
c.480A>T (p.Ser160=)
n.1984A>T
c.917A>T
n.543A>T
c.1644A>T (p.Ser548=)
c.516A>T (p.Ser172=)
17g.46066639T>CCA291125635KANSL1c.1746A>G (p.Ser582=)
n.472A>G
c.480A>G (p.Ser160=)
n.1984A>G
c.917A>G
n.543A>G
c.1644A>G (p.Ser548=)
c.516A>G (p.Ser172=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.46066639T>GCA500370808KANSL1c.1746A>C (p.Ser582=)
n.472A>C
c.480A>C (p.Ser160=)
n.1984A>C
c.917A>C
n.543A>C
c.1644A>C (p.Ser548=)
c.516A>C (p.Ser172=)
17g.46066639T=CA2262127411KANSL1c.1746A= (p.Ser582=)
n.472A=
c.480A= (p.Ser160=)
n.1984A=
c.917A=
n.543A=
c.1644A= (p.Ser548=)
c.516A= (p.Ser172=)
17g.46066640G>ACA399986651KANSL1c.1745C>T (p.Ser582Leu)
n.471C>T
c.479C>T (p.Ser160Leu)
n.1983C>T
c.916C>T
n.542C>T
c.1643C>T (p.Ser548Leu)
c.515C>T (p.Ser172Leu)
17g.46066640G>CCA399986654KANSL1c.1745C>G (p.Ser582Ter)
n.471C>G
c.479C>G (p.Ser160Ter)
n.1983C>G
c.916C>G
n.542C>G
c.1643C>G (p.Ser548Ter)
c.515C>G (p.Ser172Ter)
17g.46066640G>TCA399986657KANSL1c.1745C>A (p.Ser582Ter)
n.471C>A
c.479C>A (p.Ser160Ter)
n.1983C>A
c.916C>A
n.542C>A
c.1643C>A (p.Ser548Ter)
c.515C>A (p.Ser172Ter)
17g.46066641A>CCA399986660KANSL1c.1744T>G (p.Ser582Ala)
n.470T>G
c.478T>G (p.Ser160Ala)
n.1982T>G
c.915T>G
n.541T>G
c.1642T>G (p.Ser548Ala)
c.514T>G (p.Ser172Ala)
17g.46066641A>GCA399986663KANSL1c.1744T>C (p.Ser582Pro)
n.470T>C
c.478T>C (p.Ser160Pro)
n.1982T>C
c.915T>C
n.541T>C
c.1642T>C (p.Ser548Pro)
c.514T>C (p.Ser172Pro)
17g.46066641A>TCA399986666KANSL1c.1744T>A (p.Ser582Thr)
n.470T>A
c.478T>A (p.Ser160Thr)
n.1982T>A
c.915T>A
n.541T>A
c.1642T>A (p.Ser548Thr)
c.514T>A (p.Ser172Thr)
17g.46066642A>CCA500370813KANSL1c.1743T>G (p.Ser581=)
n.469T>G
c.477T>G (p.Ser159=)
n.1981T>G
c.914T>G
n.540T>G
c.1641T>G (p.Ser547=)
c.513T>G (p.Ser171=)
17g.46066642A>GCA500370811KANSL1c.1743T>C (p.Ser581=)
n.469T>C
c.477T>C (p.Ser159=)
n.1981T>C
c.914T>C
n.540T>C
c.1641T>C (p.Ser547=)
c.513T>C (p.Ser171=)
17g.46066642A>TCA500370814KANSL1c.1743T>A (p.Ser581=)
n.469T>A
c.477T>A (p.Ser159=)
n.1981T>A
c.914T>A
n.540T>A
c.1641T>A (p.Ser547=)
c.513T>A (p.Ser171=)
 gnomAD v4
17g.46066643G>ACA399986677KANSL1c.1742C>T (p.Ser581Phe)
n.468C>T
c.476C>T (p.Ser159Phe)
n.1980C>T
c.913C>T
n.539C>T
c.1640C>T (p.Ser547Phe)
c.512C>T (p.Ser171Phe)
 gnomAD v4
17g.46066643G>CCA399986675KANSL1c.1742C>G (p.Ser581Cys)
n.468C>G
c.476C>G (p.Ser159Cys)
n.1980C>G
c.913C>G
n.539C>G
c.1640C>G (p.Ser547Cys)
c.512C>G (p.Ser171Cys)
 gnomAD v4
17g.46066643G>TCA399986672KANSL1c.1742C>A (p.Ser581Tyr)
n.468C>A
c.476C>A (p.Ser159Tyr)
n.1980C>A
c.913C>A
n.539C>A
c.1640C>A (p.Ser547Tyr)
c.512C>A (p.Ser171Tyr)
17g.46066644A>CCA399986689KANSL1c.1741T>G (p.Ser581Ala)
n.467T>G
c.475T>G (p.Ser159Ala)
n.1979T>G
c.912T>G
n.538T>G
c.1639T>G (p.Ser547Ala)
c.511T>G (p.Ser171Ala)
17g.46066644A>GCA399986682KANSL1c.1741T>C (p.Ser581Pro)
n.467T>C
c.475T>C (p.Ser159Pro)
n.1979T>C
c.912T>C
n.538T>C
c.1639T>C (p.Ser547Pro)
c.511T>C (p.Ser171Pro)
17g.46066644A>TCA399986685KANSL1c.1741T>A (p.Ser581Thr)
n.467T>A
c.475T>A (p.Ser159Thr)
n.1979T>A
c.912T>A
n.538T>A
c.1639T>A (p.Ser547Thr)
c.511T>A (p.Ser171Thr)
17g.46066645G>ACA500370820KANSL1c.1740C>T (p.Val580=)
n.466C>T
c.474C>T (p.Val158=)
n.1978C>T
c.911C>T
n.537C>T
c.1638C>T (p.Val546=)
c.510C>T (p.Val170=)
 dbSNP gnomAD v2 gnomAD v4
17g.46066645G>CCA500370819KANSL1c.1740C>G (p.Val580=)
n.466C>G
c.474C>G (p.Val158=)
n.1978C>G
c.911C>G
n.537C>G
c.1638C>G (p.Val546=)
c.510C>G (p.Val170=)
17g.46066645G=CA2262127412KANSL1c.1740C= (p.Val580=)
n.466C=
c.474C= (p.Val158=)
n.1978C=
c.911C=
n.537C=
c.1638C= (p.Val546=)
c.510C= (p.Val170=)
17g.46066645G>TCA500370817KANSL1c.1740C>A (p.Val580=)
n.466C>A
c.474C>A (p.Val158=)
n.1978C>A
c.911C>A
n.537C>A
c.1638C>A (p.Val546=)
c.510C>A (p.Val170=)
17g.46066646A>CCA399986693KANSL1c.1739T>G (p.Val580Gly)
n.465T>G
c.473T>G (p.Val158Gly)
n.1977T>G
c.910T>G
n.536T>G
c.1637T>G (p.Val546Gly)
c.509T>G (p.Val170Gly)
17g.46066646A>GCA399986696KANSL1c.1739T>C (p.Val580Ala)
n.465T>C
c.473T>C (p.Val158Ala)
n.1977T>C
c.910T>C
n.536T>C
c.1637T>C (p.Val546Ala)
c.509T>C (p.Val170Ala)
17g.46066646A>TCA399986700KANSL1c.1739T>A (p.Val580Asp)
n.465T>A
c.473T>A (p.Val158Asp)
n.1977T>A
c.910T>A
n.536T>A
c.1637T>A (p.Val546Asp)
c.509T>A (p.Val170Asp)
17g.46066647C>ACA399986704KANSL1c.1738G>T (p.Val580Phe)
n.464G>T
c.472G>T (p.Val158Phe)
n.1976G>T
c.909G>T
n.535G>T
c.1636G>T (p.Val546Phe)
c.508G>T (p.Val170Phe)
 ClinVar gnomAD v4
17g.46066647C=CA2262127413KANSL1c.1738G= (p.Val580=)
n.464G=
c.472G= (p.Val158=)
n.1976G=
c.909G=
n.535G=
c.1636G= (p.Val546=)
c.508G= (p.Val170=)
17g.46066647C>GCA8618738KANSL1c.1738G>C (p.Val580Leu)
n.464G>C
c.472G>C (p.Val158Leu)
n.1976G>C
c.909G>C
n.535G>C
c.1636G>C (p.Val546Leu)
c.508G>C (p.Val170Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.46066647C>TCA8618737KANSL1c.1738G>A (p.Val580Ile)
n.464G>A
c.472G>A (p.Val158Ile)
n.1976G>A
c.909G>A
n.535G>A
c.1636G>A (p.Val546Ile)
c.508G>A (p.Val170Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.46066648G>ACA8618739KANSL1c.1737C>T (p.Leu579=)
n.463C>T
c.471C>T (p.Leu157=)
n.1975C>T
c.908C>T
n.534C>T
c.1635C>T (p.Leu545=)
c.507C>T (p.Leu169=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.46066648G>CCA500370822KANSL1c.1737C>G (p.Leu579=)
n.463C>G
c.471C>G (p.Leu157=)
n.1975C>G
c.908C>G
n.534C>G
c.1635C>G (p.Leu545=)
c.507C>G (p.Leu169=)
17g.46066648G=CA2262127414KANSL1c.1737C= (p.Leu579=)
n.463C=
c.471C= (p.Leu157=)
n.1975C=
c.908C=
n.534C=
c.1635C= (p.Leu545=)
c.507C= (p.Leu169=)
17g.46066648G>TCA500370823KANSL1c.1737C>A (p.Leu579=)
n.463C>A
c.471C>A (p.Leu157=)
n.1975C>A
c.908C>A
n.534C>A
c.1635C>A (p.Leu545=)
c.507C>A (p.Leu169=)
17g.46066649A>CCA399986716KANSL1c.1736T>G (p.Leu579Arg)
n.462T>G
c.470T>G (p.Leu157Arg)
n.1974T>G
c.907T>G
n.533T>G
c.1634T>G (p.Leu545Arg)
c.506T>G (p.Leu169Arg)
17g.46066649A>GCA399986718KANSL1c.1736T>C (p.Leu579Pro)
n.462T>C
c.470T>C (p.Leu157Pro)
n.1974T>C
c.907T>C
n.533T>C
c.1634T>C (p.Leu545Pro)
c.506T>C (p.Leu169Pro)
17g.46066649A>TCA399986721KANSL1c.1736T>A (p.Leu579His)
n.462T>A
c.470T>A (p.Leu157His)
n.1974T>A
c.907T>A
n.533T>A
c.1634T>A (p.Leu545His)
c.506T>A (p.Leu169His)
17g.46066650G>ACA399986734KANSL1c.1735C>T (p.Leu579Phe)
n.461C>T
c.469C>T (p.Leu157Phe)
n.1973C>T
c.906C>T
n.532C>T
c.1633C>T (p.Leu545Phe)
c.505C>T (p.Leu169Phe)
17g.46066650G>CCA399986731KANSL1c.1735C>G (p.Leu579Val)
n.461C>G
c.469C>G (p.Leu157Val)
n.1973C>G
c.906C>G
n.532C>G
c.1633C>G (p.Leu545Val)
c.505C>G (p.Leu169Val)
17g.46066650G>TCA399986728KANSL1c.1735C>A (p.Leu579Ile)
n.461C>A
c.469C>A (p.Leu157Ile)
n.1973C>A
c.906C>A
n.532C>A
c.1633C>A (p.Leu545Ile)
c.505C>A (p.Leu169Ile)
17g.46066651A>CCA399986737KANSL1c.1734T>G (p.Asn578Lys)
n.460T>G
c.468T>G (p.Asn156Lys)
n.1972T>G
c.905T>G
n.531T>G
c.1632T>G (p.Asn544Lys)
c.504T>G (p.Asn168Lys)
17g.46066651A>GCA500370827KANSL1c.1734T>C (p.Asn578=)
n.460T>C
c.468T>C (p.Asn156=)
n.1972T>C
c.905T>C
n.531T>C
c.1632T>C (p.Asn544=)
c.504T>C (p.Asn168=)
17g.46066651A>TCA399986739KANSL1c.1734T>A (p.Asn578Lys)
n.460T>A
c.468T>A (p.Asn156Lys)
n.1972T>A
c.905T>A
n.531T>A
c.1632T>A (p.Asn544Lys)
c.504T>A (p.Asn168Lys)
17g.46066652T>ACA399986745KANSL1c.1733A>T (p.Asn578Ile)
n.459A>T
c.467A>T (p.Asn156Ile)
n.1971A>T
c.904A>T
n.530A>T
c.1631A>T (p.Asn544Ile)
c.503A>T (p.Asn168Ile)
17g.46066652T>CCA399986748KANSL1c.1733A>G (p.Asn578Ser)
n.459A>G
c.467A>G (p.Asn156Ser)
n.1971A>G
c.904A>G
n.530A>G
c.1631A>G (p.Asn544Ser)
c.503A>G (p.Asn168Ser)
 gnomAD v4
17g.46066652T>GCA399986752KANSL1c.1733A>C (p.Asn578Thr)
n.459A>C
c.467A>C (p.Asn156Thr)
n.1971A>C
c.904A>C
n.530A>C
c.1631A>C (p.Asn544Thr)
c.503A>C (p.Asn168Thr)
17g.46066653T>ACA399986756KANSL1c.1732A>T (p.Asn578Tyr)
n.458A>T
c.466A>T (p.Asn156Tyr)
n.1970A>T
c.903A>T
n.529A>T
c.1630A>T (p.Asn544Tyr)
c.502A>T (p.Asn168Tyr)
17g.46066653T>CCA399986759KANSL1c.1732A>G (p.Asn578Asp)
n.458A>G
c.466A>G (p.Asn156Asp)
n.1970A>G
c.903A>G
n.529A>G
c.1630A>G (p.Asn544Asp)
c.502A>G (p.Asn168Asp)
17g.46066653T>GCA399986761KANSL1c.1732A>C (p.Asn578His)
n.458A>C
c.466A>C (p.Asn156His)
n.1970A>C
c.903A>C
n.529A>C
c.1630A>C (p.Asn544His)
c.502A>C (p.Asn168His)
17g.46066654C>ACA500370831KANSL1c.1731G>T (p.Leu577=)
n.457G>T
c.465G>T (p.Leu155=)
n.1969G>T
c.902G>T
n.528G>T
c.1629G>T (p.Leu543=)
c.501G>T (p.Leu167=)
17g.46066654C=CA2262127415KANSL1c.1731G= (p.Leu577=)
n.457G=
c.465G= (p.Leu155=)
n.1969G=
c.902G=
n.528G=
c.1629G= (p.Leu543=)
c.501G= (p.Leu167=)
17g.46066654C>GCA500370832KANSL1c.1731G>C (p.Leu577=)
n.457G>C
c.465G>C (p.Leu155=)
n.1969G>C
c.902G>C
n.528G>C
c.1629G>C (p.Leu543=)
c.501G>C (p.Leu167=)
17g.46066654C>TCA500370834KANSL1c.1731G>A (p.Leu577=)
n.457G>A
c.465G>A (p.Leu155=)
n.1969G>A
c.902G>A
n.528G>A
c.1629G>A (p.Leu543=)
c.501G>A (p.Leu167=)
 dbSNP gnomAD v2 gnomAD v4
17g.46066655A>CCA399986776KANSL1c.1730T>G (p.Leu577Arg)
n.456T>G
c.464T>G (p.Leu155Arg)
n.1968T>G
c.901T>G
n.527T>G
c.1628T>G (p.Leu543Arg)
c.500T>G (p.Leu167Arg)
17g.46066655A>GCA399986779KANSL1c.1730T>C (p.Leu577Pro)
n.456T>C
c.464T>C (p.Leu155Pro)
n.1968T>C
c.901T>C
n.527T>C
c.1628T>C (p.Leu543Pro)
c.500T>C (p.Leu167Pro)
17g.46066655A>TCA399986782KANSL1c.1730T>A (p.Leu577Gln)
n.456T>A
c.464T>A (p.Leu155Gln)
n.1968T>A
c.901T>A
n.527T>A
c.1628T>A (p.Leu543Gln)
c.500T>A (p.Leu167Gln)
17g.46066656G>ACA500370836KANSL1c.1729C>T (p.Leu577=)
n.455C>T
c.463C>T (p.Leu155=)
n.1967C>T
c.900C>T
n.526C>T
c.1627C>T (p.Leu543=)
c.499C>T (p.Leu167=)
17g.46066656G>CCA399986788KANSL1c.1729C>G (p.Leu577Val)
n.455C>G
c.463C>G (p.Leu155Val)
n.1967C>G
c.900C>G
n.526C>G
c.1627C>G (p.Leu543Val)
c.499C>G (p.Leu167Val)
17g.46066656G>TCA399986791KANSL1c.1729C>A (p.Leu577Met)
n.455C>A
c.463C>A (p.Leu155Met)
n.1967C>A
c.900C>A
n.526C>A
c.1627C>A (p.Leu543Met)
c.499C>A (p.Leu167Met)
17g.46066657T>ACA500370839KANSL1c.1728A>T (p.Arg576=)
n.454A>T
c.462A>T (p.Arg154=)
n.1966A>T
c.899A>T
n.525A>T
c.1626A>T (p.Arg542=)
c.498A>T (p.Arg166=)
17g.46066657T>CCA500370838KANSL1c.1728A>G (p.Arg576=)
n.454A>G
c.462A>G (p.Arg154=)
n.1966A>G
c.899A>G
n.525A>G
c.1626A>G (p.Arg542=)
c.498A>G (p.Arg166=)
17g.46066657T>GCA500370837KANSL1c.1728A>C (p.Arg576=)
n.454A>C
c.462A>C (p.Arg154=)
n.1966A>C
c.899A>C
n.525A>C
c.1626A>C (p.Arg542=)
c.498A>C (p.Arg166=)
17g.46066658C>ACA399986797KANSL1c.1727G>T (p.Arg576Leu)
n.453G>T
c.461G>T (p.Arg154Leu)
n.1965G>T
c.898G>T
n.524G>T
c.1625G>T (p.Arg542Leu)
c.497G>T (p.Arg166Leu)
 ClinVar
17g.46066658C>GCA399986798KANSL1c.1727G>C (p.Arg576Pro)
n.453G>C
c.461G>C (p.Arg154Pro)
n.1965G>C
c.898G>C
n.524G>C
c.1625G>C (p.Arg542Pro)
c.497G>C (p.Arg166Pro)
17g.46066658C>TCA399986795KANSL1c.1727G>A (p.Arg576Gln)
n.453G>A
c.461G>A (p.Arg154Gln)
n.1965G>A
c.898G>A
n.524G>A
c.1625G>A (p.Arg542Gln)
c.497G>A (p.Arg166Gln)
17g.46066659G>ACA399986803KANSL1c.1726C>T (p.Arg576Ter)
n.452C>T
c.460C>T (p.Arg154Ter)
n.1964C>T
c.897C>T
n.523C>T
c.1624C>T (p.Arg542Ter)
c.496C>T (p.Arg166Ter)
 ClinVar dbSNP COSMIC
17g.46066659G>CCA399986806KANSL1c.1726C>G (p.Arg576Gly)
n.452C>G
c.460C>G (p.Arg154Gly)
n.1964C>G
c.897C>G
n.523C>G
c.1624C>G (p.Arg542Gly)
c.496C>G (p.Arg166Gly)
17g.46066659G=CA2262127416KANSL1c.1726C= (p.Arg576=)
n.452C=
c.460C= (p.Arg154=)
n.1964C=
c.897C=
n.523C=
c.1624C= (p.Arg542=)
c.496C= (p.Arg166=)
17g.46066659G>TCA500370841KANSL1c.1726C>A (p.Arg576=)
n.452C>A
c.460C>A (p.Arg154=)
n.1964C>A
c.897C>A
n.523C>A
c.1624C>A (p.Arg542=)
c.496C>A (p.Arg166=)

Number of alleles fetched