Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36217412C>ACA373424256CLTA,GNEc.2215G>T (p.Gly739Cys)
c.1945G>T (p.Gly649Cys)
c.2122G>T (p.Gly708Cys)
c.1900G>T (p.Gly634Cys)
c.485+13233C>A (n.485+13233C>A)
c.1792G>T (p.Gly598Cys)
c.2107G>T (p.Gly703Cys)
c.2062G>T (p.Gly688Cys)
c.1969G>T (p.Gly657Cys)
9g.36217412C=CA1846323710CLTA,GNEc.2215G= (p.Gly739=)
c.1945G= (p.Gly649=)
c.2122G= (p.Gly708=)
c.1900G= (p.Gly634=)
c.485+13233C= (n.485+13233C=)
c.1792G= (p.Gly598=)
c.2107G= (p.Gly703=)
c.2062G= (p.Gly688=)
c.1969G= (p.Gly657=)
9g.36217412C>GCA373424258CLTA,GNEc.2215G>C (p.Gly739Arg)
c.1945G>C (p.Gly649Arg)
c.2122G>C (p.Gly708Arg)
c.1900G>C (p.Gly634Arg)
c.485+13233C>G (n.485+13233C>G)
c.1792G>C (p.Gly598Arg)
c.2107G>C (p.Gly703Arg)
c.2062G>C (p.Gly688Arg)
c.1969G>C (p.Gly657Arg)
9g.36217412C>TCA373424260CLTA,GNEc.2215G>A (p.Gly739Ser)
c.1945G>A (p.Gly649Ser)
c.2122G>A (p.Gly708Ser)
c.1900G>A (p.Gly634Ser)
c.485+13233C>T (n.485+13233C>T)
c.1792G>A (p.Gly598Ser)
c.2107G>A (p.Gly703Ser)
c.2062G>A (p.Gly688Ser)
c.1969G>A (p.Gly657Ser)
 ClinVar dbSNP gnomAD v4
9g.36217413C>ACA464494592CLTA,GNEc.2214G>T (p.Leu738=)
c.1944G>T (p.Leu648=)
c.2121G>T (p.Leu707=)
c.1899G>T (p.Leu633=)
c.485+13234C>A (n.485+13234C>A)
c.1791G>T (p.Leu597=)
c.2106G>T (p.Leu702=)
c.2061G>T (p.Leu687=)
c.1968G>T (p.Leu656=)
9g.36217413C>GCA464494593CLTA,GNEc.2214G>C (p.Leu738=)
c.1944G>C (p.Leu648=)
c.2121G>C (p.Leu707=)
c.1899G>C (p.Leu633=)
c.485+13234C>G (n.485+13234C>G)
c.1791G>C (p.Leu597=)
c.2106G>C (p.Leu702=)
c.2061G>C (p.Leu687=)
c.1968G>C (p.Leu656=)
 gnomAD v4
9g.36217413C>TCA464494594CLTA,GNEc.2214G>A (p.Leu738=)
c.1944G>A (p.Leu648=)
c.2121G>A (p.Leu707=)
c.1899G>A (p.Leu633=)
c.485+13234C>T (n.485+13234C>T)
c.1791G>A (p.Leu597=)
c.2106G>A (p.Leu702=)
c.2061G>A (p.Leu687=)
c.1968G>A (p.Leu656=)
9g.36217414A=CA1846323720CLTA,GNEc.2213T= (p.Leu738=)
c.1943T= (p.Leu648=)
c.2120T= (p.Leu707=)
c.1898T= (p.Leu633=)
c.485+13235A= (n.485+13235A=)
c.1790T= (p.Leu597=)
c.2105T= (p.Leu702=)
c.2060T= (p.Leu687=)
c.1967T= (p.Leu656=)
9g.36217414A>CCA373424263CLTA,GNEc.2213T>G (p.Leu738Arg)
c.1943T>G (p.Leu648Arg)
c.2120T>G (p.Leu707Arg)
c.1898T>G (p.Leu633Arg)
c.485+13235A>C (n.485+13235A>C)
c.1790T>G (p.Leu597Arg)
c.2105T>G (p.Leu702Arg)
c.2060T>G (p.Leu687Arg)
c.1967T>G (p.Leu656Arg)
9g.36217414A>GCA10606347CLTA,GNEc.2213T>C (p.Leu738Pro)
c.1943T>C (p.Leu648Pro)
c.2120T>C (p.Leu707Pro)
c.1898T>C (p.Leu633Pro)
c.485+13235A>G (n.485+13235A>G)
c.1790T>C (p.Leu597Pro)
c.2105T>C (p.Leu702Pro)
c.2060T>C (p.Leu687Pro)
c.1967T>C (p.Leu656Pro)
 ClinVar dbSNP
9g.36217414A>TCA373424262CLTA,GNEc.2213T>A (p.Leu738Gln)
c.1943T>A (p.Leu648Gln)
c.2120T>A (p.Leu707Gln)
c.1898T>A (p.Leu633Gln)
c.485+13235A>T (n.485+13235A>T)
c.1790T>A (p.Leu597Gln)
c.2105T>A (p.Leu702Gln)
c.2060T>A (p.Leu687Gln)
c.1967T>A (p.Leu656Gln)
9g.36217415G>ACA5056344CLTA,GNEc.2212C>T (p.Leu738=)
c.1942C>T (p.Leu648=)
c.2119C>T (p.Leu707=)
c.1897C>T (p.Leu633=)
c.485+13236G>A (n.485+13236G>A)
c.1789C>T (p.Leu597=)
c.2104C>T (p.Leu702=)
c.2059C>T (p.Leu687=)
c.1966C>T (p.Leu656=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36217415G>CCA373424266CLTA,GNEc.2212C>G (p.Leu738Val)
c.1942C>G (p.Leu648Val)
c.2119C>G (p.Leu707Val)
c.1897C>G (p.Leu633Val)
c.485+13236G>C (n.485+13236G>C)
c.1789C>G (p.Leu597Val)
c.2104C>G (p.Leu702Val)
c.2059C>G (p.Leu687Val)
c.1966C>G (p.Leu656Val)
9g.36217415G=CA1846323725CLTA,GNEc.2212C= (p.Leu738=)
c.1942C= (p.Leu648=)
c.2119C= (p.Leu707=)
c.1897C= (p.Leu633=)
c.485+13236G= (n.485+13236G=)
c.1789C= (p.Leu597=)
c.2104C= (p.Leu702=)
c.2059C= (p.Leu687=)
c.1966C= (p.Leu656=)
9g.36217415G>TCA373424268CLTA,GNEc.2212C>A (p.Leu738Met)
c.1942C>A (p.Leu648Met)
c.2119C>A (p.Leu707Met)
c.1897C>A (p.Leu633Met)
c.485+13236G>T (n.485+13236G>T)
c.1789C>A (p.Leu597Met)
c.2104C>A (p.Leu702Met)
c.2059C>A (p.Leu687Met)
c.1966C>A (p.Leu656Met)
9g.36217416C>ACA464494595CLTA,GNEc.2211G>T (p.Leu737=)
c.1941G>T (p.Leu647=)
c.2118G>T (p.Leu706=)
c.1896G>T (p.Leu632=)
c.485+13237C>A (n.485+13237C>A)
c.1788G>T (p.Leu596=)
c.2103G>T (p.Leu701=)
c.2058G>T (p.Leu686=)
c.1965G>T (p.Leu655=)
 ClinVar gnomAD v4
9g.36217416C=CA1846323732CLTA,GNEc.2211G= (p.Leu737=)
c.1941G= (p.Leu647=)
c.2118G= (p.Leu706=)
c.1896G= (p.Leu632=)
c.485+13237C= (n.485+13237C=)
c.1788G= (p.Leu596=)
c.2103G= (p.Leu701=)
c.2058G= (p.Leu686=)
c.1965G= (p.Leu655=)
9g.36217416C>GCA464494596CLTA,GNEc.2211G>C (p.Leu737=)
c.1941G>C (p.Leu647=)
c.2118G>C (p.Leu706=)
c.1896G>C (p.Leu632=)
c.485+13237C>G (n.485+13237C>G)
c.1788G>C (p.Leu596=)
c.2103G>C (p.Leu701=)
c.2058G>C (p.Leu686=)
c.1965G>C (p.Leu655=)
9g.36217416C>TCA464494597CLTA,GNEc.2211G>A (p.Leu737=)
c.1941G>A (p.Leu647=)
c.2118G>A (p.Leu706=)
c.1896G>A (p.Leu632=)
c.485+13237C>T (n.485+13237C>T)
c.1788G>A (p.Leu596=)
c.2103G>A (p.Leu701=)
c.2058G>A (p.Leu686=)
c.1965G>A (p.Leu655=)
 ClinVar dbSNP
9g.36217416dupCA588147029CLTA,GNEc.2211dup (p.Leu738AlafsTer?)
c.1941dup (p.Leu648AlafsTer?)
c.2118dup (p.Leu707AlafsTer?)
c.1896dup (p.Leu633AlafsTer?)
c.485+13237dup (n.485+13237dup)
c.1788dup (p.Leu597AlafsTer?)
c.2103dup (p.Leu702AlafsTer?)
c.2058dup (p.Leu687AlafsTer?)
c.1965dup (p.Leu656AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.36217417A=CA1846323736CLTA,GNEc.2210T= (p.Leu737=)
c.1940T= (p.Leu647=)
c.2117T= (p.Leu706=)
c.1895T= (p.Leu632=)
c.485+13238A= (n.485+13238A=)
c.1787T= (p.Leu596=)
c.2102T= (p.Leu701=)
c.2057T= (p.Leu686=)
c.1964T= (p.Leu655=)
9g.36217417A>CCA373424270CLTA,GNEc.2210T>G (p.Leu737Arg)
c.1940T>G (p.Leu647Arg)
c.2117T>G (p.Leu706Arg)
c.1895T>G (p.Leu632Arg)
c.485+13238A>C (n.485+13238A>C)
c.1787T>G (p.Leu596Arg)
c.2102T>G (p.Leu701Arg)
c.2057T>G (p.Leu686Arg)
c.1964T>G (p.Leu655Arg)
 dbSNP
9g.36217417A>GCA373424271CLTA,GNEc.2210T>C (p.Leu737Pro)
c.1940T>C (p.Leu647Pro)
c.2117T>C (p.Leu706Pro)
c.1895T>C (p.Leu632Pro)
c.485+13238A>G (n.485+13238A>G)
c.1787T>C (p.Leu596Pro)
c.2102T>C (p.Leu701Pro)
c.2057T>C (p.Leu686Pro)
c.1964T>C (p.Leu655Pro)
9g.36217417A>TCA373424272CLTA,GNEc.2210T>A (p.Leu737Gln)
c.1940T>A (p.Leu647Gln)
c.2117T>A (p.Leu706Gln)
c.1895T>A (p.Leu632Gln)
c.485+13238A>T (n.485+13238A>T)
c.1787T>A (p.Leu596Gln)
c.2102T>A (p.Leu701Gln)
c.2057T>A (p.Leu686Gln)
c.1964T>A (p.Leu655Gln)
 gnomAD v4
9g.36217417_36217419delinsAGGCA1846323734CLTA,GNEc.2208_2210delinsCCT (p.Ala736=)
c.1938_1940delinsCCT (p.Ala646=)
c.2115_2117delinsCCT (p.Ala705=)
c.1893_1895delinsCCT (p.Ala631=)
c.485+13238_485+13240delinsAGG (n.485+13238_485+13240delinsAGG)
c.1785_1787delinsCCT (p.Ala595=)
c.2100_2102delinsCCT (p.Ala700=)
c.2055_2057delinsCCT (p.Ala685=)
c.1962_1964delinsCCT (p.Ala654=)
9g.36217418G>ACA464494598CLTA,GNEc.2209C>T (p.Leu737=)
c.1939C>T (p.Leu647=)
c.2116C>T (p.Leu706=)
c.1894C>T (p.Leu632=)
c.485+13239G>A (n.485+13239G>A)
c.1786C>T (p.Leu596=)
c.2101C>T (p.Leu701=)
c.2056C>T (p.Leu686=)
c.1963C>T (p.Leu655=)
 dbSNP
9g.36217418G>CCA373424273CLTA,GNEc.2209C>G (p.Leu737Val)
c.1939C>G (p.Leu647Val)
c.2116C>G (p.Leu706Val)
c.1894C>G (p.Leu632Val)
c.485+13239G>C (n.485+13239G>C)
c.1786C>G (p.Leu596Val)
c.2101C>G (p.Leu701Val)
c.2056C>G (p.Leu686Val)
c.1963C>G (p.Leu655Val)
 gnomAD v4
9g.36217418G=CA1846323743CLTA,GNEc.2209C= (p.Leu737=)
c.1939C= (p.Leu647=)
c.2116C= (p.Leu706=)
c.1894C= (p.Leu632=)
c.485+13239G= (n.485+13239G=)
c.1786C= (p.Leu596=)
c.2101C= (p.Leu701=)
c.2056C= (p.Leu686=)
c.1963C= (p.Leu655=)
9g.36217418G>TCA373424275CLTA,GNEc.2209C>A (p.Leu737Met)
c.1939C>A (p.Leu647Met)
c.2116C>A (p.Leu706Met)
c.1894C>A (p.Leu632Met)
c.485+13239G>T (n.485+13239G>T)
c.1786C>A (p.Leu596Met)
c.2101C>A (p.Leu701Met)
c.2056C>A (p.Leu686Met)
c.1963C>A (p.Leu655Met)
9g.36217419_36217420delCA588147030CLTA,GNEc.2208_2209del (p.Leu737AlafsTer?)
c.1938_1939del (p.Leu647AlafsTer?)
c.2115_2116del (p.Leu706AlafsTer?)
c.1893_1894del (p.Leu632AlafsTer?)
c.485+13240_485+13241del (n.485+13240_485+13241del)
c.1785_1786del (p.Leu596AlafsTer?)
c.2100_2101del (p.Leu701AlafsTer?)
c.2055_2056del (p.Leu686AlafsTer?)
c.1962_1963del (p.Leu655AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.36217419G>ACA464494599CLTA,GNEc.2208C>T (p.Ala736=)
c.1938C>T (p.Ala646=)
c.2115C>T (p.Ala705=)
c.1893C>T (p.Ala631=)
c.485+13240G>A (n.485+13240G>A)
c.1785C>T (p.Ala595=)
c.2100C>T (p.Ala700=)
c.2055C>T (p.Ala685=)
c.1962C>T (p.Ala654=)
9g.36217419G>CCA464494600CLTA,GNEc.2208C>G (p.Ala736=)
c.1938C>G (p.Ala646=)
c.2115C>G (p.Ala705=)
c.1893C>G (p.Ala631=)
c.485+13240G>C (n.485+13240G>C)
c.1785C>G (p.Ala595=)
c.2100C>G (p.Ala700=)
c.2055C>G (p.Ala685=)
c.1962C>G (p.Ala654=)
9g.36217419G>TCA464494601CLTA,GNEc.2208C>A (p.Ala736=)
c.1938C>A (p.Ala646=)
c.2115C>A (p.Ala705=)
c.1893C>A (p.Ala631=)
c.485+13240G>T (n.485+13240G>T)
c.1785C>A (p.Ala595=)
c.2100C>A (p.Ala700=)
c.2055C>A (p.Ala685=)
c.1962C>A (p.Ala654=)
9g.36217420G>ACA373424277CLTA,GNEc.2207C>T (p.Ala736Val)
c.1937C>T (p.Ala646Val)
c.2114C>T (p.Ala705Val)
c.1892C>T (p.Ala631Val)
c.485+13241G>A (n.485+13241G>A)
c.1784C>T (p.Ala595Val)
c.2099C>T (p.Ala700Val)
c.2054C>T (p.Ala685Val)
c.1961C>T (p.Ala654Val)
9g.36217420G>CCA373424278CLTA,GNEc.2207C>G (p.Ala736Gly)
c.1937C>G (p.Ala646Gly)
c.2114C>G (p.Ala705Gly)
c.1892C>G (p.Ala631Gly)
c.485+13241G>C (n.485+13241G>C)
c.1784C>G (p.Ala595Gly)
c.2099C>G (p.Ala700Gly)
c.2054C>G (p.Ala685Gly)
c.1961C>G (p.Ala654Gly)
 dbSNP
9g.36217420G=CA1846323752CLTA,GNEc.2207C= (p.Ala736=)
c.1937C= (p.Ala646=)
c.2114C= (p.Ala705=)
c.1892C= (p.Ala631=)
c.485+13241G= (n.485+13241G=)
c.1784C= (p.Ala595=)
c.2099C= (p.Ala700=)
c.2054C= (p.Ala685=)
c.1961C= (p.Ala654=)
9g.36217420G>TCA373424280CLTA,GNEc.2207C>A (p.Ala736Asp)
c.1937C>A (p.Ala646Asp)
c.2114C>A (p.Ala705Asp)
c.1892C>A (p.Ala631Asp)
c.485+13241G>T (n.485+13241G>T)
c.1784C>A (p.Ala595Asp)
c.2099C>A (p.Ala700Asp)
c.2054C>A (p.Ala685Asp)
c.1961C>A (p.Ala654Asp)
9g.36217421C>ACA373424282CLTA,GNEc.2206G>T (p.Ala736Ser)
c.1936G>T (p.Ala646Ser)
c.2113G>T (p.Ala705Ser)
c.1891G>T (p.Ala631Ser)
c.485+13242C>A (n.485+13242C>A)
c.1783G>T (p.Ala595Ser)
c.2098G>T (p.Ala700Ser)
c.2053G>T (p.Ala685Ser)
c.1960G>T (p.Ala654Ser)
9g.36217421C=CA1846323758CLTA,GNEc.2206G= (p.Ala736=)
c.1936G= (p.Ala646=)
c.2113G= (p.Ala705=)
c.1891G= (p.Ala631=)
c.485+13242C= (n.485+13242C=)
c.1783G= (p.Ala595=)
c.2098G= (p.Ala700=)
c.2053G= (p.Ala685=)
c.1960G= (p.Ala654=)
9g.36217421C>GCA373424283CLTA,GNEc.2206G>C (p.Ala736Pro)
c.1936G>C (p.Ala646Pro)
c.2113G>C (p.Ala705Pro)
c.1891G>C (p.Ala631Pro)
c.485+13242C>G (n.485+13242C>G)
c.1783G>C (p.Ala595Pro)
c.2098G>C (p.Ala700Pro)
c.2053G>C (p.Ala685Pro)
c.1960G>C (p.Ala654Pro)
 dbSNP
9g.36217421C>TCA5056345CLTA,GNEc.2206G>A (p.Ala736Thr)
c.1936G>A (p.Ala646Thr)
c.2113G>A (p.Ala705Thr)
c.1891G>A (p.Ala631Thr)
c.485+13242C>T (n.485+13242C>T)
c.1783G>A (p.Ala595Thr)
c.2098G>A (p.Ala700Thr)
c.2053G>A (p.Ala685Thr)
c.1960G>A (p.Ala654Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36217421_36217422insTCA588147031CLTA,GNEc.2205_2206insA (p.Ala736SerfsTer?)
c.1935_1936insA (p.Ala646SerfsTer?)
c.2112_2113insA (p.Ala705SerfsTer?)
c.1890_1891insA (p.Ala631SerfsTer?)
c.485+13242_485+13243insT (n.485+13242_485+13243insT)
c.1782_1783insA (p.Ala595SerfsTer?)
c.2097_2098insA (p.Ala700SerfsTer?)
c.2052_2053insA (p.Ala685SerfsTer?)
c.1959_1960insA (p.Ala654SerfsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.36217422G>ACA5056346CLTA,GNEc.2205C>T (p.Pro735=)
c.1935C>T (p.Pro645=)
c.2112C>T (p.Pro704=)
c.1890C>T (p.Pro630=)
c.485+13243G>A (n.485+13243G>A)
c.1782C>T (p.Pro594=)
c.2097C>T (p.Pro699=)
c.2052C>T (p.Pro684=)
c.1959C>T (p.Pro653=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36217422G>CCA464494602CLTA,GNEc.2205C>G (p.Pro735=)
c.1935C>G (p.Pro645=)
c.2112C>G (p.Pro704=)
c.1890C>G (p.Pro630=)
c.485+13243G>C (n.485+13243G>C)
c.1782C>G (p.Pro594=)
c.2097C>G (p.Pro699=)
c.2052C>G (p.Pro684=)
c.1959C>G (p.Pro653=)
9g.36217422G=CA1846323772CLTA,GNEc.2205C= (p.Pro735=)
c.1935C= (p.Pro645=)
c.2112C= (p.Pro704=)
c.1890C= (p.Pro630=)
c.485+13243G= (n.485+13243G=)
c.1782C= (p.Pro594=)
c.2097C= (p.Pro699=)
c.2052C= (p.Pro684=)
c.1959C= (p.Pro653=)
9g.36217422G>TCA464494603CLTA,GNEc.2205C>A (p.Pro735=)
c.1935C>A (p.Pro645=)
c.2112C>A (p.Pro704=)
c.1890C>A (p.Pro630=)
c.485+13243G>T (n.485+13243G>T)
c.1782C>A (p.Pro594=)
c.2097C>A (p.Pro699=)
c.2052C>A (p.Pro684=)
c.1959C>A (p.Pro653=)
9g.36217425delCA2695206249CLTA,GNEc.2205del (p.Ala736ProfsTer?)
c.1935del (p.Ala646ProfsTer?)
c.2112del (p.Ala705ProfsTer?)
c.1890del (p.Ala631ProfsTer?)
c.485+13246del (n.485+13246del)
c.1782del (p.Ala595ProfsTer?)
c.2097del (p.Ala700ProfsTer?)
c.2052del (p.Ala685ProfsTer?)
c.1959del (p.Ala654ProfsTer?)
9g.36217422_36217423insCCA2545287472CLTA,GNEc.2204_2205insG (p.Ala736ArgfsTer?)
c.1934_1935insG (p.Ala646ArgfsTer?)
c.2111_2112insG (p.Ala705ArgfsTer?)
c.1889_1890insG (p.Ala631ArgfsTer?)
c.485+13243_485+13244insC (n.485+13243_485+13244insC)
c.1781_1782insG (p.Ala595ArgfsTer?)
c.2096_2097insG (p.Ala700ArgfsTer?)
c.2051_2052insG (p.Ala685ArgfsTer?)
c.1958_1959insG (p.Ala654ArgfsTer?)
9g.36217423G>ACA373424288CLTA,GNEc.2204C>T (p.Pro735Leu)
c.1934C>T (p.Pro645Leu)
c.2111C>T (p.Pro704Leu)
c.1889C>T (p.Pro630Leu)
c.485+13244G>A (n.485+13244G>A)
c.1781C>T (p.Pro594Leu)
c.2096C>T (p.Pro699Leu)
c.2051C>T (p.Pro684Leu)
c.1958C>T (p.Pro653Leu)
9g.36217423G>CCA373424286CLTA,GNEc.2204C>G (p.Pro735Arg)
c.1934C>G (p.Pro645Arg)
c.2111C>G (p.Pro704Arg)
c.1889C>G (p.Pro630Arg)
c.485+13244G>C (n.485+13244G>C)
c.1781C>G (p.Pro594Arg)
c.2096C>G (p.Pro699Arg)
c.2051C>G (p.Pro684Arg)
c.1958C>G (p.Pro653Arg)

Number of alleles fetched