Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50150115_50150159dupCA1139663471SOS2c.2234_2278dup (p.Ile759_Glu760insGlyValSerHisAsnIleThrPheGluSerProProProProIle)
c.2135_2179dup (p.Ile726_Glu727insGlyValSerHisAsnIleThrPheGluSerProProProProIle)
c.2054_2098dup (p.Ile699_Glu700insGlyValSerHisAsnIleThrPheGluSerProProProProIle)
c.2195_2239dup (p.Ile746_Glu747insGlyValSerHisAsnIleThrPheGluSerProProProProIle)
ClinVar dbSNP
14g.50150143A>CCA389643871SOS2c.2249T>G (p.Ile750Ser)
c.2150T>G (p.Ile717Ser)
c.2069T>G (p.Ile690Ser)
c.2210T>G (p.Ile737Ser)
ClinVar gnomAD v4
14g.50150143A>GCA389643873SOS2c.2249T>C (p.Ile750Thr)
c.2150T>C (p.Ile717Thr)
c.2069T>C (p.Ile690Thr)
c.2210T>C (p.Ile737Thr)
14g.50150143A>TCA389643872SOS2c.2249T>A (p.Ile750Asn)
c.2150T>A (p.Ile717Asn)
c.2069T>A (p.Ile690Asn)
c.2210T>A (p.Ile737Asn)
14g.50150144T>ACA389643874SOS2c.2248A>T (p.Ile750Phe)
c.2149A>T (p.Ile717Phe)
c.2068A>T (p.Ile690Phe)
c.2209A>T (p.Ile737Phe)
14g.50150144T>CCA389643875SOS2c.2248A>G (p.Ile750Val)
c.2149A>G (p.Ile717Val)
c.2068A>G (p.Ile690Val)
c.2209A>G (p.Ile737Val)
14g.50150144T>GCA389643876SOS2c.2248A>C (p.Ile750Leu)
c.2149A>C (p.Ile717Leu)
c.2068A>C (p.Ile690Leu)
c.2209A>C (p.Ile737Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50150144T=CA2136039649SOS2c.2248A= (p.Ile750=)
c.2149A= (p.Ile717=)
c.2068A= (p.Ile690=)
c.2209A= (p.Ile737=)
14g.50150145A>CCA389643877SOS2c.2247T>G (p.Asn749Lys)
c.2148T>G (p.Asn716Lys)
c.2067T>G (p.Asn689Lys)
c.2208T>G (p.Asn736Lys)
14g.50150145A>GCA486174985SOS2c.2247T>C (p.Asn749=)
c.2148T>C (p.Asn716=)
c.2067T>C (p.Asn689=)
c.2208T>C (p.Asn736=)
14g.50150145A>TCA389643878SOS2c.2247T>A (p.Asn749Lys)
c.2148T>A (p.Asn716Lys)
c.2067T>A (p.Asn689Lys)
c.2208T>A (p.Asn736Lys)
14g.50150146T>ACA389643879SOS2c.2246A>T (p.Asn749Ile)
c.2147A>T (p.Asn716Ile)
c.2066A>T (p.Asn689Ile)
c.2207A>T (p.Asn736Ile)
14g.50150146T>CCA7177082SOS2c.2246A>G (p.Asn749Ser)
c.2147A>G (p.Asn716Ser)
c.2066A>G (p.Asn689Ser)
c.2207A>G (p.Asn736Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150146T>GCA389643880SOS2c.2246A>C (p.Asn749Thr)
c.2147A>C (p.Asn716Thr)
c.2066A>C (p.Asn689Thr)
c.2207A>C (p.Asn736Thr)
gnomAD v4
14g.50150146T=CA2136039653SOS2c.2246A= (p.Asn749=)
c.2147A= (p.Asn716=)
c.2066A= (p.Asn689=)
c.2207A= (p.Asn736=)
14g.50150147T>ACA389643881SOS2c.2245A>T (p.Asn749Tyr)
c.2146A>T (p.Asn716Tyr)
c.2065A>T (p.Asn689Tyr)
c.2206A>T (p.Asn736Tyr)
14g.50150147T>CCA7177083SOS2c.2245A>G (p.Asn749Asp)
c.2146A>G (p.Asn716Asp)
c.2065A>G (p.Asn689Asp)
c.2206A>G (p.Asn736Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150147T>GCA389643882SOS2c.2245A>C (p.Asn749His)
c.2146A>C (p.Asn716His)
c.2065A>C (p.Asn689His)
c.2206A>C (p.Asn736His)
14g.50150147T=CA2136039657SOS2c.2245A= (p.Asn749=)
c.2146A= (p.Asn716=)
c.2065A= (p.Asn689=)
c.2206A= (p.Asn736=)
14g.50150148A>CCA389643883SOS2c.2244T>G (p.His748Gln)
c.2145T>G (p.His715Gln)
c.2064T>G (p.His688Gln)
c.2205T>G (p.His735Gln)
14g.50150148A>GCA486174986SOS2c.2244T>C (p.His748=)
c.2145T>C (p.His715=)
c.2064T>C (p.His688=)
c.2205T>C (p.His735=)
gnomAD v4
14g.50150148A>TCA389643884SOS2c.2244T>A (p.His748Gln)
c.2145T>A (p.His715Gln)
c.2064T>A (p.His688Gln)
c.2205T>A (p.His735Gln)
14g.50150149T>ACA389643885SOS2c.2243A>T (p.His748Leu)
c.2144A>T (p.His715Leu)
c.2063A>T (p.His688Leu)
c.2204A>T (p.His735Leu)
14g.50150149T>CCA7177084SOS2c.2243A>G (p.His748Arg)
c.2144A>G (p.His715Arg)
c.2063A>G (p.His688Arg)
c.2204A>G (p.His735Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150149T>GCA260729896SOS2c.2243A>C (p.His748Pro)
c.2144A>C (p.His715Pro)
c.2063A>C (p.His688Pro)
c.2204A>C (p.His735Pro)
dbSNP gnomAD v4
14g.50150149T=CA2136039662SOS2c.2243A= (p.His748=)
c.2144A= (p.His715=)
c.2063A= (p.His688=)
c.2204A= (p.His735=)
14g.50150150G>ACA389643886SOS2c.2242C>T (p.His748Tyr)
c.2143C>T (p.His715Tyr)
c.2062C>T (p.His688Tyr)
c.2203C>T (p.His735Tyr)
14g.50150150G>CCA389643887SOS2c.2242C>G (p.His748Asp)
c.2143C>G (p.His715Asp)
c.2062C>G (p.His688Asp)
c.2203C>G (p.His735Asp)
14g.50150150G>TCA389643888SOS2c.2242C>A (p.His748Asn)
c.2143C>A (p.His715Asn)
c.2062C>A (p.His688Asn)
c.2203C>A (p.His735Asn)
14g.50150151G>ACA486174987SOS2c.2241C>T (p.Ser747=)
c.2142C>T (p.Ser714=)
c.2061C>T (p.Ser687=)
c.2202C>T (p.Ser734=)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.50150151G>CCA389643889SOS2c.2241C>G (p.Ser747Arg)
c.2142C>G (p.Ser714Arg)
c.2061C>G (p.Ser687Arg)
c.2202C>G (p.Ser734Arg)
14g.50150151G=CA2136039665SOS2c.2241C= (p.Ser747=)
c.2142C= (p.Ser714=)
c.2061C= (p.Ser687=)
c.2202C= (p.Ser734=)
14g.50150151G>TCA389643890SOS2c.2241C>A (p.Ser747Arg)
c.2142C>A (p.Ser714Arg)
c.2061C>A (p.Ser687Arg)
c.2202C>A (p.Ser734Arg)
14g.50150152C>ACA389643891SOS2c.2240G>T (p.Ser747Ile)
c.2141G>T (p.Ser714Ile)
c.2060G>T (p.Ser687Ile)
c.2201G>T (p.Ser734Ile)
14g.50150152C>GCA389643892SOS2c.2240G>C (p.Ser747Thr)
c.2141G>C (p.Ser714Thr)
c.2060G>C (p.Ser687Thr)
c.2201G>C (p.Ser734Thr)
14g.50150152C>TCA389643893SOS2c.2240G>A (p.Ser747Asn)
c.2141G>A (p.Ser714Asn)
c.2060G>A (p.Ser687Asn)
c.2201G>A (p.Ser734Asn)
ClinVar gnomAD v4
14g.50150153T>ACA389643894SOS2c.2239A>T (p.Ser747Cys)
c.2140A>T (p.Ser714Cys)
c.2059A>T (p.Ser687Cys)
c.2200A>T (p.Ser734Cys)
14g.50150153T>CCA389643895SOS2c.2239A>G (p.Ser747Gly)
c.2140A>G (p.Ser714Gly)
c.2059A>G (p.Ser687Gly)
c.2200A>G (p.Ser734Gly)
14g.50150153T>GCA389643896SOS2c.2239A>C (p.Ser747Arg)
c.2140A>C (p.Ser714Arg)
c.2059A>C (p.Ser687Arg)
c.2200A>C (p.Ser734Arg)
14g.50150154T>ACA486174988SOS2c.2238A>T (p.Val746=)
c.2139A>T (p.Val713=)
c.2058A>T (p.Val686=)
c.2199A>T (p.Val733=)
14g.50150154T>CCA7177085SOS2c.2238A>G (p.Val746=)
c.2139A>G (p.Val713=)
c.2058A>G (p.Val686=)
c.2199A>G (p.Val733=)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.50150154T>GCA486174989SOS2c.2238A>C (p.Val746=)
c.2139A>C (p.Val713=)
c.2058A>C (p.Val686=)
c.2199A>C (p.Val733=)
14g.50150154T=CA2136039666SOS2c.2238A= (p.Val746=)
c.2139A= (p.Val713=)
c.2058A= (p.Val686=)
c.2199A= (p.Val733=)
14g.50150155A>CCA389643898SOS2c.2237T>G (p.Val746Gly)
c.2138T>G (p.Val713Gly)
c.2057T>G (p.Val686Gly)
c.2198T>G (p.Val733Gly)
14g.50150155A>GCA389643897SOS2c.2237T>C (p.Val746Ala)
c.2138T>C (p.Val713Ala)
c.2057T>C (p.Val686Ala)
c.2198T>C (p.Val733Ala)
14g.50150155A>TCA389643899SOS2c.2237T>A (p.Val746Glu)
c.2138T>A (p.Val713Glu)
c.2057T>A (p.Val686Glu)
c.2198T>A (p.Val733Glu)
14g.50150156C>ACA389643900SOS2c.2236G>T (p.Val746Leu)
c.2137G>T (p.Val713Leu)
c.2056G>T (p.Val686Leu)
c.2197G>T (p.Val733Leu)
14g.50150156C=CA2136039667SOS2c.2236G= (p.Val746=)
c.2137G= (p.Val713=)
c.2056G= (p.Val686=)
c.2197G= (p.Val733=)
14g.50150156C>GCA389643901SOS2c.2236G>C (p.Val746Leu)
c.2137G>C (p.Val713Leu)
c.2056G>C (p.Val686Leu)
c.2197G>C (p.Val733Leu)
14g.50150156C>TCA260729908SOS2c.2236G>A (p.Val746Ile)
c.2137G>A (p.Val713Ile)
c.2056G>A (p.Val686Ile)
c.2197G>A (p.Val733Ile)
ClinVar dbSNP gnomAD v4
14g.50150157T>ACA486174990SOS2c.2235A>T (p.Gly745=)
c.2136A>T (p.Gly712=)
c.2055A>T (p.Gly685=)
c.2196A>T (p.Gly732=)
14g.50150157T>CCA486174991SOS2c.2235A>G (p.Gly745=)
c.2136A>G (p.Gly712=)
c.2055A>G (p.Gly685=)
c.2196A>G (p.Gly732=)
14g.50150157T>GCA486174992SOS2c.2235A>C (p.Gly745=)
c.2136A>C (p.Gly712=)
c.2055A>C (p.Gly685=)
c.2196A>C (p.Gly732=)
gnomAD v4
14g.50150158C>ACA389643902SOS2c.2234G>T (p.Gly745Val)
c.2135G>T (p.Gly712Val)
c.2054G>T (p.Gly685Val)
c.2195G>T (p.Gly732Val)
14g.50150158C=CA2136039668SOS2c.2234G= (p.Gly745=)
c.2135G= (p.Gly712=)
c.2054G= (p.Gly685=)
c.2195G= (p.Gly732=)
14g.50150158C>GCA389643903SOS2c.2234G>C (p.Gly745Ala)
c.2135G>C (p.Gly712Ala)
c.2054G>C (p.Gly685Ala)
c.2195G>C (p.Gly732Ala)
gnomAD v4
14g.50150158C>TCA260729910SOS2c.2234G>A (p.Gly745Glu)
c.2135G>A (p.Gly712Glu)
c.2054G>A (p.Gly685Glu)
c.2195G>A (p.Gly732Glu)
dbSNP
14g.50150159C>ACA389643904SOS2c.2233G>T (p.Gly745Ter)
c.2134G>T (p.Gly712Ter)
c.2053G>T (p.Gly685Ter)
c.2194G>T (p.Gly732Ter)
gnomAD v4
14g.50150159C>GCA389643905SOS2c.2233G>C (p.Gly745Arg)
c.2134G>C (p.Gly712Arg)
c.2053G>C (p.Gly685Arg)
c.2194G>C (p.Gly732Arg)
14g.50150159C>TCA389643906SOS2c.2233G>A (p.Gly745Arg)
c.2134G>A (p.Gly712Arg)
c.2053G>A (p.Gly685Arg)
c.2194G>A (p.Gly732Arg)
ClinVar dbSNP gnomAD v4
14g.50150160G>ACA7177086SOS2c.2232C>T (p.Asn744=)
c.2133C>T (p.Asn711=)
c.2052C>T (p.Asn684=)
c.2193C>T (p.Asn731=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150160G>CCA389643907SOS2c.2232C>G (p.Asn744Lys)
c.2133C>G (p.Asn711Lys)
c.2052C>G (p.Asn684Lys)
c.2193C>G (p.Asn731Lys)
14g.50150160G=CA2136039670SOS2c.2232C= (p.Asn744=)
c.2133C= (p.Asn711=)
c.2052C= (p.Asn684=)
c.2193C= (p.Asn731=)
14g.50150160G>TCA389643908SOS2c.2232C>A (p.Asn744Lys)
c.2133C>A (p.Asn711Lys)
c.2052C>A (p.Asn684Lys)
c.2193C>A (p.Asn731Lys)
14g.50150160_50150161delinsACCA2573149967SOS2c.2231_2232delinsGT (p.Asn744Ser)
c.2132_2133delinsGT (p.Asn711Ser)
c.2051_2052delinsGT (p.Asn684Ser)
c.2192_2193delinsGT (p.Asn731Ser)
ClinVar
14g.50150161T>ACA389643911SOS2c.2231A>T (p.Asn744Ile)
c.2132A>T (p.Asn711Ile)
c.2051A>T (p.Asn684Ile)
c.2192A>T (p.Asn731Ile)
14g.50150161T>CCA389643909SOS2c.2231A>G (p.Asn744Ser)
c.2132A>G (p.Asn711Ser)
c.2051A>G (p.Asn684Ser)
c.2192A>G (p.Asn731Ser)
14g.50150161T>GCA389643910SOS2c.2231A>C (p.Asn744Thr)
c.2132A>C (p.Asn711Thr)
c.2051A>C (p.Asn684Thr)
c.2192A>C (p.Asn731Thr)
14g.50150161_50150257dupCA1139663472SOS2c.2162-27_2231dup
c.2063-27_2132dup
c.1982-27_2051dup
c.2123-27_2192dup
ClinVar dbSNP
14g.50150162T>ACA389643912SOS2c.2230A>T (p.Asn744Tyr)
c.2131A>T (p.Asn711Tyr)
c.2050A>T (p.Asn684Tyr)
c.2191A>T (p.Asn731Tyr)
14g.50150162T>CCA389643913SOS2c.2230A>G (p.Asn744Asp)
c.2131A>G (p.Asn711Asp)
c.2050A>G (p.Asn684Asp)
c.2191A>G (p.Asn731Asp)
14g.50150162T>GCA389643914SOS2c.2230A>C (p.Asn744His)
c.2131A>C (p.Asn711His)
c.2050A>C (p.Asn684His)
c.2191A>C (p.Asn731His)
14g.50150163T>ACA486174995SOS2c.2229A>T (p.Ala743=)
c.2130A>T (p.Ala710=)
c.2049A>T (p.Ala683=)
c.2190A>T (p.Ala730=)
14g.50150163T>CCA486174994SOS2c.2229A>G (p.Ala743=)
c.2130A>G (p.Ala710=)
c.2049A>G (p.Ala683=)
c.2190A>G (p.Ala730=)
14g.50150163T>GCA486174993SOS2c.2229A>C (p.Ala743=)
c.2130A>C (p.Ala710=)
c.2049A>C (p.Ala683=)
c.2190A>C (p.Ala730=)
14g.50150164G>ACA389643915SOS2c.2228C>T (p.Ala743Val)
c.2129C>T (p.Ala710Val)
c.2048C>T (p.Ala683Val)
c.2189C>T (p.Ala730Val)
14g.50150164G>CCA7177087SOS2c.2228C>G (p.Ala743Gly)
c.2129C>G (p.Ala710Gly)
c.2048C>G (p.Ala683Gly)
c.2189C>G (p.Ala730Gly)
ClinVar dbSNP ExAC gnomAD v2
14g.50150164G=CA2136039677SOS2c.2228C= (p.Ala743=)
c.2129C= (p.Ala710=)
c.2048C= (p.Ala683=)
c.2189C= (p.Ala730=)
14g.50150164G>TCA389643916SOS2c.2228C>A (p.Ala743Glu)
c.2129C>A (p.Ala710Glu)
c.2048C>A (p.Ala683Glu)
c.2189C>A (p.Ala730Glu)
14g.50150166_50150171delCA2624771064SOS2c.2223_2228del (p.Gln742_Ala743del)
c.2124_2129del (p.Gln709_Ala710del)
c.2043_2048del (p.Gln682_Ala683del)
c.2184_2189del (p.Gln729_Ala730del)
gnomAD v4
14g.50150165C>ACA389643917SOS2c.2227G>T (p.Ala743Ser)
c.2128G>T (p.Ala710Ser)
c.2047G>T (p.Ala683Ser)
c.2188G>T (p.Ala730Ser)
gnomAD v4
14g.50150165C>GCA389643918SOS2c.2227G>C (p.Ala743Pro)
c.2128G>C (p.Ala710Pro)
c.2047G>C (p.Ala683Pro)
c.2188G>C (p.Ala730Pro)
14g.50150165C>TCA389643919SOS2c.2227G>A (p.Ala743Thr)
c.2128G>A (p.Ala710Thr)
c.2047G>A (p.Ala683Thr)
c.2188G>A (p.Ala730Thr)
14g.50150166C>ACA389643920SOS2c.2226G>T (p.Gln742His)
c.2127G>T (p.Gln709His)
c.2046G>T (p.Gln682His)
c.2187G>T (p.Gln729His)
14g.50150166C>GCA389643921SOS2c.2226G>C (p.Gln742His)
c.2127G>C (p.Gln709His)
c.2046G>C (p.Gln682His)
c.2187G>C (p.Gln729His)
14g.50150166C>TCA486174996SOS2c.2226G>A (p.Gln742=)
c.2127G>A (p.Gln709=)
c.2046G>A (p.Gln682=)
c.2187G>A (p.Gln729=)
14g.50150167T>ACA389643923SOS2c.2225A>T (p.Gln742Leu)
c.2126A>T (p.Gln709Leu)
c.2045A>T (p.Gln682Leu)
c.2186A>T (p.Gln729Leu)
14g.50150167T>CCA389643924SOS2c.2225A>G (p.Gln742Arg)
c.2126A>G (p.Gln709Arg)
c.2045A>G (p.Gln682Arg)
c.2186A>G (p.Gln729Arg)
gnomAD v4
14g.50150167T>GCA389643922SOS2c.2225A>C (p.Gln742Pro)
c.2126A>C (p.Gln709Pro)
c.2045A>C (p.Gln682Pro)
c.2186A>C (p.Gln729Pro)
gnomAD v4
14g.50150167_50150168delinsTGCA2136039682SOS2c.2224_2225delinsCA (p.Gln742=)
c.2125_2126delinsCA (p.Gln709=)
c.2044_2045delinsCA (p.Gln682=)
c.2185_2186delinsCA (p.Gln729=)
14g.50150168delCA706556679SOS2c.2224del (p.Gln742ArgfsTer5)
c.2125del (p.Gln709ArgfsTer5)
c.2044del (p.Gln682ArgfsTer5)
c.2185del (p.Gln729ArgfsTer5)
dbSNP
14g.50150168G>ACA389643925SOS2c.2224C>T (p.Gln742Ter)
c.2125C>T (p.Gln709Ter)
c.2044C>T (p.Gln682Ter)
c.2185C>T (p.Gln729Ter)
14g.50150168G>CCA389643926SOS2c.2224C>G (p.Gln742Glu)
c.2125C>G (p.Gln709Glu)
c.2044C>G (p.Gln682Glu)
c.2185C>G (p.Gln729Glu)
14g.50150168G>TCA389643927SOS2c.2224C>A (p.Gln742Lys)
c.2125C>A (p.Gln709Lys)
c.2044C>A (p.Gln682Lys)
c.2185C>A (p.Gln729Lys)
14g.50150169A>CCA486174997SOS2c.2223T>G (p.Ala741=)
c.2124T>G (p.Ala708=)
c.2043T>G (p.Ala681=)
c.2184T>G (p.Ala728=)
14g.50150169A>GCA486174998SOS2c.2223T>C (p.Ala741=)
c.2124T>C (p.Ala708=)
c.2043T>C (p.Ala681=)
c.2184T>C (p.Ala728=)
gnomAD v4
14g.50150169A>TCA486174999SOS2c.2223T>A (p.Ala741=)
c.2124T>A (p.Ala708=)
c.2043T>A (p.Ala681=)
c.2184T>A (p.Ala728=)
14g.50150170G>ACA389643928SOS2c.2222C>T (p.Ala741Val)
c.2123C>T (p.Ala708Val)
c.2042C>T (p.Ala681Val)
c.2183C>T (p.Ala728Val)
14g.50150170G>CCA389643929SOS2c.2222C>G (p.Ala741Gly)
c.2123C>G (p.Ala708Gly)
c.2042C>G (p.Ala681Gly)
c.2183C>G (p.Ala728Gly)
14g.50150170G>TCA389643930SOS2c.2222C>A (p.Ala741Asp)
c.2123C>A (p.Ala708Asp)
c.2042C>A (p.Ala681Asp)
c.2183C>A (p.Ala728Asp)
14g.50150171C>ACA389643933SOS2c.2221G>T (p.Ala741Ser)
c.2122G>T (p.Ala708Ser)
c.2041G>T (p.Ala681Ser)
c.2182G>T (p.Ala728Ser)
14g.50150171C=CA2136039685SOS2c.2221G= (p.Ala741=)
c.2122G= (p.Ala708=)
c.2041G= (p.Ala681=)
c.2182G= (p.Ala728=)
14g.50150171C>GCA389643931SOS2c.2221G>C (p.Ala741Pro)
c.2122G>C (p.Ala708Pro)
c.2041G>C (p.Ala681Pro)
c.2182G>C (p.Ala728Pro)
14g.50150171C>TCA389643932SOS2c.2221G>A (p.Ala741Thr)
c.2122G>A (p.Ala708Thr)
c.2041G>A (p.Ala681Thr)
c.2182G>A (p.Ala728Thr)
ClinVar dbSNP gnomAD v4
14g.50150172T>ACA7177089SOS2c.2220A>T (p.Gln740His)
c.2121A>T (p.Gln707His)
c.2040A>T (p.Gln680His)
c.2181A>T (p.Gln727His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
14g.50150172T>CCA486175000SOS2c.2220A>G (p.Gln740=)
c.2121A>G (p.Gln707=)
c.2040A>G (p.Gln680=)
c.2181A>G (p.Gln727=)
14g.50150172T>GCA7177088SOS2c.2220A>C (p.Gln740His)
c.2121A>C (p.Gln707His)
c.2040A>C (p.Gln680His)
c.2181A>C (p.Gln727His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150172T=CA2136039689SOS2c.2220A= (p.Gln740=)
c.2121A= (p.Gln707=)
c.2040A= (p.Gln680=)
c.2181A= (p.Gln727=)
14g.50150173T>ACA389643934SOS2c.2219A>T (p.Gln740Leu)
c.2120A>T (p.Gln707Leu)
c.2039A>T (p.Gln680Leu)
c.2180A>T (p.Gln727Leu)
14g.50150173T>CCA389643935SOS2c.2219A>G (p.Gln740Arg)
c.2120A>G (p.Gln707Arg)
c.2039A>G (p.Gln680Arg)
c.2180A>G (p.Gln727Arg)
14g.50150173T>GCA389643936SOS2c.2219A>C (p.Gln740Pro)
c.2120A>C (p.Gln707Pro)
c.2039A>C (p.Gln680Pro)
c.2180A>C (p.Gln727Pro)
14g.50150174G>ACA389643937SOS2c.2218C>T (p.Gln740Ter)
c.2119C>T (p.Gln707Ter)
c.2038C>T (p.Gln680Ter)
c.2179C>T (p.Gln727Ter)
14g.50150174G>CCA389643939SOS2c.2218C>G (p.Gln740Glu)
c.2119C>G (p.Gln707Glu)
c.2038C>G (p.Gln680Glu)
c.2179C>G (p.Gln727Glu)
14g.50150174G>TCA389643938SOS2c.2218C>A (p.Gln740Lys)
c.2119C>A (p.Gln707Lys)
c.2038C>A (p.Gln680Lys)
c.2179C>A (p.Gln727Lys)
14g.50150175C>ACA7177091SOS2c.2217G>T (p.Lys739Asn)
c.2118G>T (p.Lys706Asn)
c.2037G>T (p.Lys679Asn)
c.2178G>T (p.Lys726Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150175C=CA2136039693SOS2c.2217G= (p.Lys739=)
c.2118G= (p.Lys706=)
c.2037G= (p.Lys679=)
c.2178G= (p.Lys726=)
14g.50150175C>GCA389643940SOS2c.2217G>C (p.Lys739Asn)
c.2118G>C (p.Lys706Asn)
c.2037G>C (p.Lys679Asn)
c.2178G>C (p.Lys726Asn)
14g.50150175C>TCA7177090SOS2c.2217G>A (p.Lys739=)
c.2118G>A (p.Lys706=)
c.2037G>A (p.Lys679=)
c.2178G>A (p.Lys726=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150176T>ACA389643941SOS2c.2216A>T (p.Lys739Met)
c.2117A>T (p.Lys706Met)
c.2036A>T (p.Lys679Met)
c.2177A>T (p.Lys726Met)
14g.50150176T>CCA389643942SOS2c.2216A>G (p.Lys739Arg)
c.2117A>G (p.Lys706Arg)
c.2036A>G (p.Lys679Arg)
c.2177A>G (p.Lys726Arg)
14g.50150176T>GCA389643943SOS2c.2216A>C (p.Lys739Thr)
c.2117A>C (p.Lys706Thr)
c.2036A>C (p.Lys679Thr)
c.2177A>C (p.Lys726Thr)
14g.50150177T>ACA389643944SOS2c.2215A>T (p.Lys739Ter)
c.2116A>T (p.Lys706Ter)
c.2035A>T (p.Lys679Ter)
c.2176A>T (p.Lys726Ter)
14g.50150177T>CCA389643945SOS2c.2215A>G (p.Lys739Glu)
c.2116A>G (p.Lys706Glu)
c.2035A>G (p.Lys679Glu)
c.2176A>G (p.Lys726Glu)
14g.50150177T>GCA389643946SOS2c.2215A>C (p.Lys739Gln)
c.2116A>C (p.Lys706Gln)
c.2035A>C (p.Lys679Gln)
c.2176A>C (p.Lys726Gln)
14g.50150178C>ACA389643947SOS2c.2214G>T (p.Lys738Asn)
c.2115G>T (p.Lys705Asn)
c.2034G>T (p.Lys678Asn)
c.2175G>T (p.Lys725Asn)
14g.50150178C>GCA389643948SOS2c.2214G>C (p.Lys738Asn)
c.2115G>C (p.Lys705Asn)
c.2034G>C (p.Lys678Asn)
c.2175G>C (p.Lys725Asn)
14g.50150178C>TCA486175001SOS2c.2214G>A (p.Lys738=)
c.2115G>A (p.Lys705=)
c.2034G>A (p.Lys678=)
c.2175G>A (p.Lys725=)
ClinVar gnomAD v4
14g.50150179T>ACA389643950SOS2c.2213A>T (p.Lys738Met)
c.2114A>T (p.Lys705Met)
c.2033A>T (p.Lys678Met)
c.2174A>T (p.Lys725Met)
14g.50150179T>CCA7177092SOS2c.2213A>G (p.Lys738Arg)
c.2114A>G (p.Lys705Arg)
c.2033A>G (p.Lys678Arg)
c.2174A>G (p.Lys725Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.50150179T>GCA389643949SOS2c.2213A>C (p.Lys738Thr)
c.2114A>C (p.Lys705Thr)
c.2033A>C (p.Lys678Thr)
c.2174A>C (p.Lys725Thr)
14g.50150179T=CA2136039696SOS2c.2213A= (p.Lys738=)
c.2114A= (p.Lys705=)
c.2033A= (p.Lys678=)
c.2174A= (p.Lys725=)
14g.50150180T>ACA389643951SOS2c.2212A>T (p.Lys738Ter)
c.2113A>T (p.Lys705Ter)
c.2032A>T (p.Lys678Ter)
c.2173A>T (p.Lys725Ter)
14g.50150180T>CCA389643953SOS2c.2212A>G (p.Lys738Glu)
c.2113A>G (p.Lys705Glu)
c.2032A>G (p.Lys678Glu)
c.2173A>G (p.Lys725Glu)
14g.50150180T>GCA389643952SOS2c.2212A>C (p.Lys738Gln)
c.2113A>C (p.Lys705Gln)
c.2032A>C (p.Lys678Gln)
c.2173A>C (p.Lys725Gln)
14g.50150181C>ACA389643954SOS2c.2211G>T (p.Arg737Ser)
c.2112G>T (p.Arg704Ser)
c.2031G>T (p.Arg677Ser)
c.2172G>T (p.Arg724Ser)
14g.50150181C>GCA389643955SOS2c.2211G>C (p.Arg737Ser)
c.2112G>C (p.Arg704Ser)
c.2031G>C (p.Arg677Ser)
c.2172G>C (p.Arg724Ser)
14g.50150181C>TCA486175002SOS2c.2211G>A (p.Arg737=)
c.2112G>A (p.Arg704=)
c.2031G>A (p.Arg677=)
c.2172G>A (p.Arg724=)
14g.50150182C>ACA389643956SOS2c.2210G>T (p.Arg737Met)
c.2111G>T (p.Arg704Met)
c.2030G>T (p.Arg677Met)
c.2171G>T (p.Arg724Met)
14g.50150182C>GCA389643957SOS2c.2210G>C (p.Arg737Thr)
c.2111G>C (p.Arg704Thr)
c.2030G>C (p.Arg677Thr)
c.2171G>C (p.Arg724Thr)
14g.50150182C>TCA389643958SOS2c.2210G>A (p.Arg737Lys)
c.2111G>A (p.Arg704Lys)
c.2030G>A (p.Arg677Lys)
c.2171G>A (p.Arg724Lys)
14g.50150183T>ACA389643959SOS2c.2209A>T (p.Arg737Trp)
c.2110A>T (p.Arg704Trp)
c.2029A>T (p.Arg677Trp)
c.2170A>T (p.Arg724Trp)
gnomAD v4
14g.50150183T>CCA389643960SOS2c.2209A>G (p.Arg737Gly)
c.2110A>G (p.Arg704Gly)
c.2029A>G (p.Arg677Gly)
c.2170A>G (p.Arg724Gly)
14g.50150183T>GCA486175003SOS2c.2209A>C (p.Arg737=)
c.2110A>C (p.Arg704=)
c.2029A>C (p.Arg677=)
c.2170A>C (p.Arg724=)
14g.50150184C>ACA389643961SOS2c.2208G>T (p.Arg736Ser)
c.2109G>T (p.Arg703Ser)
c.2028G>T (p.Arg676Ser)
c.2169G>T (p.Arg723Ser)
14g.50150184C>GCA389643962SOS2c.2208G>C (p.Arg736Ser)
c.2109G>C (p.Arg703Ser)
c.2028G>C (p.Arg676Ser)
c.2169G>C (p.Arg723Ser)
14g.50150184C>TCA486175004SOS2c.2208G>A (p.Arg736=)
c.2109G>A (p.Arg703=)
c.2028G>A (p.Arg676=)
c.2169G>A (p.Arg723=)
14g.50150185C>ACA389643963SOS2c.2207G>T (p.Arg736Met)
c.2108G>T (p.Arg703Met)
c.2027G>T (p.Arg676Met)
c.2168G>T (p.Arg723Met)
14g.50150185C=CA2136039699SOS2c.2207G= (p.Arg736=)
c.2108G= (p.Arg703=)
c.2027G= (p.Arg676=)
c.2168G= (p.Arg723=)
14g.50150185C>GCA389643964SOS2c.2207G>C (p.Arg736Thr)
c.2108G>C (p.Arg703Thr)
c.2027G>C (p.Arg676Thr)
c.2168G>C (p.Arg723Thr)
14g.50150185C>TCA7177093SOS2c.2207G>A (p.Arg736Lys)
c.2108G>A (p.Arg703Lys)
c.2027G>A (p.Arg676Lys)
c.2168G>A (p.Arg723Lys)
dbSNP ExAC gnomAD v2
14g.50150186T>ACA389643965SOS2c.2206A>T (p.Arg736Trp)
c.2107A>T (p.Arg703Trp)
c.2026A>T (p.Arg676Trp)
c.2167A>T (p.Arg723Trp)
14g.50150186T>CCA389643966SOS2c.2206A>G (p.Arg736Gly)
c.2107A>G (p.Arg703Gly)
c.2026A>G (p.Arg676Gly)
c.2167A>G (p.Arg723Gly)
gnomAD v4
14g.50150186T>GCA486175005SOS2c.2206A>C (p.Arg736=)
c.2107A>C (p.Arg703=)
c.2026A>C (p.Arg676=)
c.2167A>C (p.Arg723=)
14g.50150187G>ACA486175007SOS2c.2205C>T (p.Ile735=)
c.2106C>T (p.Ile702=)
c.2025C>T (p.Ile675=)
c.2166C>T (p.Ile722=)
14g.50150187G>CCA389643967SOS2c.2205C>G (p.Ile735Met)
c.2106C>G (p.Ile702Met)
c.2025C>G (p.Ile675Met)
c.2166C>G (p.Ile722Met)
14g.50150187G>TCA486175006SOS2c.2205C>A (p.Ile735=)
c.2106C>A (p.Ile702=)
c.2025C>A (p.Ile675=)
c.2166C>A (p.Ile722=)
gnomAD v4
14g.50150188A>CCA389643970SOS2c.2204T>G (p.Ile735Ser)
c.2105T>G (p.Ile702Ser)
c.2024T>G (p.Ile675Ser)
c.2165T>G (p.Ile722Ser)
14g.50150188A>GCA389643969SOS2c.2204T>C (p.Ile735Thr)
c.2105T>C (p.Ile702Thr)
c.2024T>C (p.Ile675Thr)
c.2165T>C (p.Ile722Thr)
14g.50150188A>TCA389643968SOS2c.2204T>A (p.Ile735Asn)
c.2105T>A (p.Ile702Asn)
c.2024T>A (p.Ile675Asn)
c.2165T>A (p.Ile722Asn)
ClinVar gnomAD v4
14g.50150189T>ACA389643971SOS2c.2203A>T (p.Ile735Phe)
c.2104A>T (p.Ile702Phe)
c.2023A>T (p.Ile675Phe)
c.2164A>T (p.Ile722Phe)
14g.50150189T>CCA389643972SOS2c.2203A>G (p.Ile735Val)
c.2104A>G (p.Ile702Val)
c.2023A>G (p.Ile675Val)
c.2164A>G (p.Ile722Val)
ClinVar dbSNP gnomAD v2 gnomAD v4
14g.50150189T>GCA389643973SOS2c.2203A>C (p.Ile735Leu)
c.2104A>C (p.Ile702Leu)
c.2023A>C (p.Ile675Leu)
c.2164A>C (p.Ile722Leu)
14g.50150189T=CA2136039705SOS2c.2203A= (p.Ile735=)
c.2104A= (p.Ile702=)
c.2023A= (p.Ile675=)
c.2164A= (p.Ile722=)
14g.50150190G>ACA7177094SOS2c.2202C>T (p.Ile734=)
c.2103C>T (p.Ile701=)
c.2022C>T (p.Ile674=)
c.2163C>T (p.Ile721=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
14g.50150190G>CCA389643974SOS2c.2202C>G (p.Ile734Met)
c.2103C>G (p.Ile701Met)
c.2022C>G (p.Ile674Met)
c.2163C>G (p.Ile721Met)
14g.50150190G=CA2136039708SOS2c.2202C= (p.Ile734=)
c.2103C= (p.Ile701=)
c.2022C= (p.Ile674=)
c.2163C= (p.Ile721=)
14g.50150190G>TCA486175008SOS2c.2202C>A (p.Ile734=)
c.2103C>A (p.Ile701=)
c.2022C>A (p.Ile674=)
c.2163C>A (p.Ile721=)
14g.50150191A=CA2136039714SOS2c.2201T= (p.Ile734=)
c.2102T= (p.Ile701=)
c.2021T= (p.Ile674=)
c.2162T= (p.Ile721=)
14g.50150191A>CCA389643975SOS2c.2201T>G (p.Ile734Ser)
c.2102T>G (p.Ile701Ser)
c.2021T>G (p.Ile674Ser)
c.2162T>G (p.Ile721Ser)
dbSNP gnomAD v2 gnomAD v4
14g.50150191A>GCA389643976SOS2c.2201T>C (p.Ile734Thr)
c.2102T>C (p.Ile701Thr)
c.2021T>C (p.Ile674Thr)
c.2162T>C (p.Ile721Thr)
dbSNP
14g.50150191A>TCA389643977SOS2c.2201T>A (p.Ile734Asn)
c.2102T>A (p.Ile701Asn)
c.2021T>A (p.Ile674Asn)
c.2162T>A (p.Ile721Asn)
gnomAD v4
14g.50150192T>ACA389643978SOS2c.2200A>T (p.Ile734Phe)
c.2101A>T (p.Ile701Phe)
c.2020A>T (p.Ile674Phe)
c.2161A>T (p.Ile721Phe)
gnomAD v4
14g.50150192T>CCA389643979SOS2c.2200A>G (p.Ile734Val)
c.2101A>G (p.Ile701Val)
c.2020A>G (p.Ile674Val)
c.2161A>G (p.Ile721Val)
dbSNP gnomAD v3 gnomAD v4
14g.50150192T>GCA389643980SOS2c.2200A>C (p.Ile734Leu)
c.2101A>C (p.Ile701Leu)
c.2020A>C (p.Ile674Leu)
c.2161A>C (p.Ile721Leu)
14g.50150192T=CA2136039717SOS2c.2200A= (p.Ile734=)
c.2101A= (p.Ile701=)
c.2020A= (p.Ile674=)
c.2161A= (p.Ile721=)
14g.50150193C>ACA389643981SOS2c.2199G>T (p.Lys733Asn)
c.2100G>T (p.Lys700Asn)
c.2019G>T (p.Lys673Asn)
c.2160G>T (p.Lys720Asn)
14g.50150193C=CA2136039719SOS2c.2199G= (p.Lys733=)
c.2100G= (p.Lys700=)
c.2019G= (p.Lys673=)
c.2160G= (p.Lys720=)
14g.50150193C>GCA389643982SOS2c.2199G>C (p.Lys733Asn)
c.2100G>C (p.Lys700Asn)
c.2019G>C (p.Lys673Asn)
c.2160G>C (p.Lys720Asn)
gnomAD v4
14g.50150193C>TCA486175009SOS2c.2199G>A (p.Lys733=)
c.2100G>A (p.Lys700=)
c.2019G>A (p.Lys673=)
c.2160G>A (p.Lys720=)
dbSNP gnomAD v4
14g.50150194T>ACA389643985SOS2c.2198A>T (p.Lys733Met)
c.2099A>T (p.Lys700Met)
c.2018A>T (p.Lys673Met)
c.2159A>T (p.Lys720Met)
14g.50150194T>CCA389643984SOS2c.2198A>G (p.Lys733Arg)
c.2099A>G (p.Lys700Arg)
c.2018A>G (p.Lys673Arg)
c.2159A>G (p.Lys720Arg)
14g.50150194T>GCA389643983SOS2c.2198A>C (p.Lys733Thr)
c.2099A>C (p.Lys700Thr)
c.2018A>C (p.Lys673Thr)
c.2159A>C (p.Lys720Thr)
14g.50150195delCA2624771065SOS2c.2198del (p.Lys733ArgfsTer14)
c.2099del (p.Lys700ArgfsTer14)
c.2018del (p.Lys673ArgfsTer14)
c.2159del (p.Lys720ArgfsTer14)
gnomAD v4
14g.50150195T>ACA389643986SOS2c.2197A>T (p.Lys733Ter)
c.2098A>T (p.Lys700Ter)
c.2017A>T (p.Lys673Ter)
c.2158A>T (p.Lys720Ter)
14g.50150195T>CCA389643987SOS2c.2197A>G (p.Lys733Glu)
c.2098A>G (p.Lys700Glu)
c.2017A>G (p.Lys673Glu)
c.2158A>G (p.Lys720Glu)
14g.50150195T>GCA389643988SOS2c.2197A>C (p.Lys733Gln)
c.2098A>C (p.Lys700Gln)
c.2017A>C (p.Lys673Gln)
c.2158A>C (p.Lys720Gln)
14g.50150196A=CA2136039722SOS2c.2196T= (p.Ala732=)
c.2097T= (p.Ala699=)
c.2016T= (p.Ala672=)
c.2157T= (p.Ala719=)
14g.50150196A>CCA486175010SOS2c.2196T>G (p.Ala732=)
c.2097T>G (p.Ala699=)
c.2016T>G (p.Ala672=)
c.2157T>G (p.Ala719=)
14g.50150196A>GCA7177095SOS2c.2196T>C (p.Ala732=)
c.2097T>C (p.Ala699=)
c.2016T>C (p.Ala672=)
c.2157T>C (p.Ala719=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150196A>TCA486175011SOS2c.2196T>A (p.Ala732=)
c.2097T>A (p.Ala699=)
c.2016T>A (p.Ala672=)
c.2157T>A (p.Ala719=)
14g.50150197G>ACA389643989SOS2c.2195C>T (p.Ala732Val)
c.2096C>T (p.Ala699Val)
c.2015C>T (p.Ala672Val)
c.2156C>T (p.Ala719Val)
14g.50150197G>CCA389643990SOS2c.2195C>G (p.Ala732Gly)
c.2096C>G (p.Ala699Gly)
c.2015C>G (p.Ala672Gly)
c.2156C>G (p.Ala719Gly)
14g.50150197G>TCA389643991SOS2c.2195C>A (p.Ala732Asp)
c.2096C>A (p.Ala699Asp)
c.2015C>A (p.Ala672Asp)
c.2156C>A (p.Ala719Asp)
14g.50150198C>ACA389643992SOS2c.2194G>T (p.Ala732Ser)
c.2095G>T (p.Ala699Ser)
c.2014G>T (p.Ala672Ser)
c.2155G>T (p.Ala719Ser)
14g.50150198C=CA2136039725SOS2c.2194G= (p.Ala732=)
c.2095G= (p.Ala699=)
c.2014G= (p.Ala672=)
c.2155G= (p.Ala719=)
14g.50150198C>GCA389643993SOS2c.2194G>C (p.Ala732Pro)
c.2095G>C (p.Ala699Pro)
c.2014G>C (p.Ala672Pro)
c.2155G>C (p.Ala719Pro)
14g.50150198C>TCA260729950SOS2c.2194G>A (p.Ala732Thr)
c.2095G>A (p.Ala699Thr)
c.2014G>A (p.Ala672Thr)
c.2155G>A (p.Ala719Thr)
dbSNP
14g.50150199A>CCA389643994SOS2c.2193T>G (p.Ile731Met)
c.2094T>G (p.Ile698Met)
c.2013T>G (p.Ile671Met)
c.2154T>G (p.Ile718Met)
ClinVar
14g.50150199A>GCA486175012SOS2c.2193T>C (p.Ile731=)
c.2094T>C (p.Ile698=)
c.2013T>C (p.Ile671=)
c.2154T>C (p.Ile718=)
dbSNP
14g.50150199A>TCA486175013SOS2c.2193T>A (p.Ile731=)
c.2094T>A (p.Ile698=)
c.2013T>A (p.Ile671=)
c.2154T>A (p.Ile718=)
gnomAD v4
14g.50150200A=CA2136039727SOS2c.2192T= (p.Ile731=)
c.2093T= (p.Ile698=)
c.2012T= (p.Ile671=)
c.2153T= (p.Ile718=)
14g.50150200A>CCA389643995SOS2c.2192T>G (p.Ile731Ser)
c.2093T>G (p.Ile698Ser)
c.2012T>G (p.Ile671Ser)
c.2153T>G (p.Ile718Ser)
14g.50150200A>GCA389643996SOS2c.2192T>C (p.Ile731Thr)
c.2093T>C (p.Ile698Thr)
c.2012T>C (p.Ile671Thr)
c.2153T>C (p.Ile718Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50150200A>TCA389643997SOS2c.2192T>A (p.Ile731Asn)
c.2093T>A (p.Ile698Asn)
c.2012T>A (p.Ile671Asn)
c.2153T>A (p.Ile718Asn)
14g.50150201T>ACA389643998SOS2c.2191A>T (p.Ile731Phe)
c.2092A>T (p.Ile698Phe)
c.2011A>T (p.Ile671Phe)
c.2152A>T (p.Ile718Phe)
14g.50150201T>CCA7177096SOS2c.2191A>G (p.Ile731Val)
c.2092A>G (p.Ile698Val)
c.2011A>G (p.Ile671Val)
c.2152A>G (p.Ile718Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150201T>GCA389643999SOS2c.2191A>C (p.Ile731Leu)
c.2092A>C (p.Ile698Leu)
c.2011A>C (p.Ile671Leu)
c.2152A>C (p.Ile718Leu)
14g.50150201T=CA2136039729SOS2c.2191A= (p.Ile731=)
c.2092A= (p.Ile698=)
c.2011A= (p.Ile671=)
c.2152A= (p.Ile718=)
14g.50150202T>ACA486175014SOS2c.2190A>T (p.Ser730=)
c.2091A>T (p.Ser697=)
c.2010A>T (p.Ser670=)
c.2151A>T (p.Ser717=)
14g.50150202T>CCA486175015SOS2c.2190A>G (p.Ser730=)
c.2091A>G (p.Ser697=)
c.2010A>G (p.Ser670=)
c.2151A>G (p.Ser717=)
ClinVar dbSNP gnomAD v3 gnomAD v4
14g.50150202T>GCA486175016SOS2c.2190A>C (p.Ser730=)
c.2091A>C (p.Ser697=)
c.2010A>C (p.Ser670=)
c.2151A>C (p.Ser717=)
ClinVar
14g.50150202T=CA2136039734SOS2c.2190A= (p.Ser730=)
c.2091A= (p.Ser697=)
c.2010A= (p.Ser670=)
c.2151A= (p.Ser717=)
14g.50150203G>ACA7177097SOS2c.2189C>T (p.Ser730Leu)
c.2090C>T (p.Ser697Leu)
c.2009C>T (p.Ser670Leu)
c.2150C>T (p.Ser717Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.50150203G>CCA389644000SOS2c.2189C>G (p.Ser730Ter)
c.2090C>G (p.Ser697Ter)
c.2009C>G (p.Ser670Ter)
c.2150C>G (p.Ser717Ter)
14g.50150203G=CA2136039736SOS2c.2189C= (p.Ser730=)
c.2090C= (p.Ser697=)
c.2009C= (p.Ser670=)
c.2150C= (p.Ser717=)
14g.50150203G>TCA389644001SOS2c.2189C>A (p.Ser730Ter)
c.2090C>A (p.Ser697Ter)
c.2009C>A (p.Ser670Ter)
c.2150C>A (p.Ser717Ter)
14g.50150204A>CCA389644002SOS2c.2188T>G (p.Ser730Ala)
c.2089T>G (p.Ser697Ala)
c.2008T>G (p.Ser670Ala)
c.2149T>G (p.Ser717Ala)
14g.50150204A>GCA389644003SOS2c.2188T>C (p.Ser730Pro)
c.2089T>C (p.Ser697Pro)
c.2008T>C (p.Ser670Pro)
c.2149T>C (p.Ser717Pro)
14g.50150204A>TCA389644004SOS2c.2188T>A (p.Ser730Thr)
c.2089T>A (p.Ser697Thr)
c.2008T>A (p.Ser670Thr)
c.2149T>A (p.Ser717Thr)
14g.50150205C>ACA389644005SOS2c.2187G>T (p.Glu729Asp)
c.2088G>T (p.Glu696Asp)
c.2007G>T (p.Glu669Asp)
c.2148G>T (p.Glu716Asp)
14g.50150205C>GCA389644006SOS2c.2187G>C (p.Glu729Asp)
c.2088G>C (p.Glu696Asp)
c.2007G>C (p.Glu669Asp)
c.2148G>C (p.Glu716Asp)
14g.50150205C>TCA486175017SOS2c.2187G>A (p.Glu729=)
c.2088G>A (p.Glu696=)
c.2007G>A (p.Glu669=)
c.2148G>A (p.Glu716=)
14g.50150206T>ACA389644007SOS2c.2186A>T (p.Glu729Val)
c.2087A>T (p.Glu696Val)
c.2006A>T (p.Glu669Val)
c.2147A>T (p.Glu716Val)
14g.50150206T>CCA389644008SOS2c.2186A>G (p.Glu729Gly)
c.2087A>G (p.Glu696Gly)
c.2006A>G (p.Glu669Gly)
c.2147A>G (p.Glu716Gly)
14g.50150206T>GCA389644009SOS2c.2186A>C (p.Glu729Ala)
c.2087A>C (p.Glu696Ala)
c.2006A>C (p.Glu669Ala)
c.2147A>C (p.Glu716Ala)
14g.50150207C>ACA389644010SOS2c.2185G>T (p.Glu729Ter)
c.2086G>T (p.Glu696Ter)
c.2005G>T (p.Glu669Ter)
c.2146G>T (p.Glu716Ter)
14g.50150207C>GCA389644012SOS2c.2185G>C (p.Glu729Gln)
c.2086G>C (p.Glu696Gln)
c.2005G>C (p.Glu669Gln)
c.2146G>C (p.Glu716Gln)
gnomAD v4
14g.50150207C>TCA389644011SOS2c.2185G>A (p.Glu729Lys)
c.2086G>A (p.Glu696Lys)
c.2005G>A (p.Glu669Lys)
c.2146G>A (p.Glu716Lys)
14g.50150208T>ACA486175018SOS2c.2184A>T (p.Val728=)
c.2085A>T (p.Val695=)
c.2004A>T (p.Val668=)
c.2145A>T (p.Val715=)
14g.50150208T>CCA486175019SOS2c.2184A>G (p.Val728=)
c.2085A>G (p.Val695=)
c.2004A>G (p.Val668=)
c.2145A>G (p.Val715=)
dbSNP gnomAD v3 gnomAD v4
14g.50150208T>GCA7177098SOS2c.2184A>C (p.Val728=)
c.2085A>C (p.Val695=)
c.2004A>C (p.Val668=)
c.2145A>C (p.Val715=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150208T=CA2136039738SOS2c.2184A= (p.Val728=)
c.2085A= (p.Val695=)
c.2004A= (p.Val668=)
c.2145A= (p.Val715=)
14g.50150209A>CCA389644013SOS2c.2183T>G (p.Val728Gly)
c.2084T>G (p.Val695Gly)
c.2003T>G (p.Val668Gly)
c.2144T>G (p.Val715Gly)
14g.50150209A>GCA389644014SOS2c.2183T>C (p.Val728Ala)
c.2084T>C (p.Val695Ala)
c.2003T>C (p.Val668Ala)
c.2144T>C (p.Val715Ala)
14g.50150209A>TCA389644015SOS2c.2183T>A (p.Val728Glu)
c.2084T>A (p.Val695Glu)
c.2003T>A (p.Val668Glu)
c.2144T>A (p.Val715Glu)
14g.50150210C>ACA389644016SOS2c.2182G>T (p.Val728Leu)
c.2083G>T (p.Val695Leu)
c.2002G>T (p.Val668Leu)
c.2143G>T (p.Val715Leu)
14g.50150210C>GCA389644017SOS2c.2182G>C (p.Val728Leu)
c.2083G>C (p.Val695Leu)
c.2002G>C (p.Val668Leu)
c.2143G>C (p.Val715Leu)
14g.50150210C>TCA389644018SOS2c.2182G>A (p.Val728Ile)
c.2083G>A (p.Val695Ile)
c.2002G>A (p.Val668Ile)
c.2143G>A (p.Val715Ile)
ClinVar dbSNP gnomAD v4
14g.50150211C>ACA389644019SOS2c.2181G>T (p.Trp727Cys)
c.2082G>T (p.Trp694Cys)
c.2001G>T (p.Trp667Cys)
c.2142G>T (p.Trp714Cys)
14g.50150211C>GCA389644020SOS2c.2181G>C (p.Trp727Cys)
c.2082G>C (p.Trp694Cys)
c.2001G>C (p.Trp667Cys)
c.2142G>C (p.Trp714Cys)
14g.50150211C>TCA389644021SOS2c.2181G>A (p.Trp727Ter)
c.2082G>A (p.Trp694Ter)
c.2001G>A (p.Trp667Ter)
c.2142G>A (p.Trp714Ter)
14g.50150212C>ACA389644022SOS2c.2180G>T (p.Trp727Leu)
c.2081G>T (p.Trp694Leu)
c.2000G>T (p.Trp667Leu)
c.2141G>T (p.Trp714Leu)
ClinVar gnomAD v4
14g.50150212C>GCA389644023SOS2c.2180G>C (p.Trp727Ser)
c.2081G>C (p.Trp694Ser)
c.2000G>C (p.Trp667Ser)
c.2141G>C (p.Trp714Ser)
14g.50150212C>TCA389644024SOS2c.2180G>A (p.Trp727Ter)
c.2081G>A (p.Trp694Ter)
c.2000G>A (p.Trp667Ter)
c.2141G>A (p.Trp714Ter)
14g.50150213A>CCA389644027SOS2c.2179T>G (p.Trp727Gly)
c.2080T>G (p.Trp694Gly)
c.1999T>G (p.Trp667Gly)
c.2140T>G (p.Trp714Gly)
14g.50150213A>GCA389644026SOS2c.2179T>C (p.Trp727Arg)
c.2080T>C (p.Trp694Arg)
c.1999T>C (p.Trp667Arg)
c.2140T>C (p.Trp714Arg)
14g.50150213A>TCA389644025SOS2c.2179T>A (p.Trp727Arg)
c.2080T>A (p.Trp694Arg)
c.1999T>A (p.Trp667Arg)
c.2140T>A (p.Trp714Arg)
14g.50150214T>ACA389644028SOS2c.2178A>T (p.Lys726Asn)
c.2079A>T (p.Lys693Asn)
c.1998A>T (p.Lys666Asn)
c.2139A>T (p.Lys713Asn)
gnomAD v4
14g.50150214T>CCA486175020SOS2c.2178A>G (p.Lys726=)
c.2079A>G (p.Lys693=)
c.1998A>G (p.Lys666=)
c.2139A>G (p.Lys713=)
14g.50150214T>GCA389644029SOS2c.2178A>C (p.Lys726Asn)
c.2079A>C (p.Lys693Asn)
c.1998A>C (p.Lys666Asn)
c.2139A>C (p.Lys713Asn)
14g.50150219dupCA2624771066SOS2c.2178dup (p.Trp727MetfsTer7)
c.2079dup (p.Trp694MetfsTer7)
c.1998dup (p.Trp667MetfsTer7)
c.2139dup (p.Trp714MetfsTer7)
gnomAD v4
14g.50150219delCA2624771067SOS2c.2178del (p.Lys726AsnfsTer3)
c.2079del (p.Lys693AsnfsTer3)
c.1998del (p.Lys666AsnfsTer3)
c.2139del (p.Lys713AsnfsTer3)
gnomAD v4
14g.50150215T>ACA389644030SOS2c.2177A>T (p.Lys726Ile)
c.2078A>T (p.Lys693Ile)
c.1997A>T (p.Lys666Ile)
c.2138A>T (p.Lys713Ile)
14g.50150215T>CCA389644031SOS2c.2177A>G (p.Lys726Arg)
c.2078A>G (p.Lys693Arg)
c.1997A>G (p.Lys666Arg)
c.2138A>G (p.Lys713Arg)
14g.50150215T>GCA389644032SOS2c.2177A>C (p.Lys726Thr)
c.2078A>C (p.Lys693Thr)
c.1997A>C (p.Lys666Thr)
c.2138A>C (p.Lys713Thr)
14g.50150216T>ACA389644033SOS2c.2176A>T (p.Lys726Ter)
c.2077A>T (p.Lys693Ter)
c.1996A>T (p.Lys666Ter)
c.2137A>T (p.Lys713Ter)
14g.50150216T>CCA389644034SOS2c.2176A>G (p.Lys726Glu)
c.2077A>G (p.Lys693Glu)
c.1996A>G (p.Lys666Glu)
c.2137A>G (p.Lys713Glu)
dbSNP gnomAD v2 gnomAD v4
14g.50150216T>GCA389644035SOS2c.2176A>C (p.Lys726Gln)
c.2077A>C (p.Lys693Gln)
c.1996A>C (p.Lys666Gln)
c.2137A>C (p.Lys713Gln)
14g.50150216T=CA2136039741SOS2c.2176A= (p.Lys726=)
c.2077A= (p.Lys693=)
c.1996A= (p.Lys666=)
c.2137A= (p.Lys713=)
14g.50150217T>ACA389644036SOS2c.2175A>T (p.Lys725Asn)
c.2076A>T (p.Lys692Asn)
c.1995A>T (p.Lys665Asn)
c.2136A>T (p.Lys712Asn)
14g.50150217T>CCA486175021SOS2c.2175A>G (p.Lys725=)
c.2076A>G (p.Lys692=)
c.1995A>G (p.Lys665=)
c.2136A>G (p.Lys712=)
14g.50150217T>GCA389644037SOS2c.2175A>C (p.Lys725Asn)
c.2076A>C (p.Lys692Asn)
c.1995A>C (p.Lys665Asn)
c.2136A>C (p.Lys712Asn)
14g.50150218T>ACA389644038SOS2c.2174A>T (p.Lys725Ile)
c.2075A>T (p.Lys692Ile)
c.1994A>T (p.Lys665Ile)
c.2135A>T (p.Lys712Ile)
14g.50150218T>CCA389644039SOS2c.2174A>G (p.Lys725Arg)
c.2075A>G (p.Lys692Arg)
c.1994A>G (p.Lys665Arg)
c.2135A>G (p.Lys712Arg)
14g.50150218T>GCA389644040SOS2c.2174A>C (p.Lys725Thr)
c.2075A>C (p.Lys692Thr)
c.1994A>C (p.Lys665Thr)
c.2135A>C (p.Lys712Thr)
14g.50150219T>ACA389644042SOS2c.2173A>T (p.Lys725Ter)
c.2074A>T (p.Lys692Ter)
c.1993A>T (p.Lys665Ter)
c.2134A>T (p.Lys712Ter)
14g.50150219T>CCA389644043SOS2c.2173A>G (p.Lys725Glu)
c.2074A>G (p.Lys692Glu)
c.1993A>G (p.Lys665Glu)
c.2134A>G (p.Lys712Glu)
14g.50150219T>GCA389644041SOS2c.2173A>C (p.Lys725Gln)
c.2074A>C (p.Lys692Gln)
c.1993A>C (p.Lys665Gln)
c.2134A>C (p.Lys712Gln)
14g.50150220C>ACA389644044SOS2c.2172G>T (p.Met724Ile)
c.2073G>T (p.Met691Ile)
c.1992G>T (p.Met664Ile)
c.2133G>T (p.Met711Ile)
14g.50150220C=CA2136039745SOS2c.2172G= (p.Met724=)
c.2073G= (p.Met691=)
c.1992G= (p.Met664=)
c.2133G= (p.Met711=)
14g.50150220C>GCA389644045SOS2c.2172G>C (p.Met724Ile)
c.2073G>C (p.Met691Ile)
c.1992G>C (p.Met664Ile)
c.2133G>C (p.Met711Ile)
dbSNP
14g.50150220C>TCA7177099SOS2c.2172G>A (p.Met724Ile)
c.2073G>A (p.Met691Ile)
c.1992G>A (p.Met664Ile)
c.2133G>A (p.Met711Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
14g.50150221A>CCA389644046SOS2c.2171T>G (p.Met724Arg)
c.2072T>G (p.Met691Arg)
c.1991T>G (p.Met664Arg)
c.2132T>G (p.Met711Arg)
14g.50150221A>GCA389644047SOS2c.2171T>C (p.Met724Thr)
c.2072T>C (p.Met691Thr)
c.1991T>C (p.Met664Thr)
c.2132T>C (p.Met711Thr)
14g.50150221A>TCA389644048SOS2c.2171T>A (p.Met724Lys)
c.2072T>A (p.Met691Lys)
c.1991T>A (p.Met664Lys)
c.2132T>A (p.Met711Lys)
14g.50150222T>ACA389644049SOS2c.2170A>T (p.Met724Leu)
c.2071A>T (p.Met691Leu)
c.1990A>T (p.Met664Leu)
c.2131A>T (p.Met711Leu)
gnomAD v4
14g.50150222T>CCA389644050SOS2c.2170A>G (p.Met724Val)
c.2071A>G (p.Met691Val)
c.1990A>G (p.Met664Val)
c.2131A>G (p.Met711Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50150222T>GCA389644051SOS2c.2170A>C (p.Met724Leu)
c.2071A>C (p.Met691Leu)
c.1990A>C (p.Met664Leu)
c.2131A>C (p.Met711Leu)
14g.50150222T=CA2136039748SOS2c.2170A= (p.Met724=)
c.2071A= (p.Met691=)
c.1990A= (p.Met664=)
c.2131A= (p.Met711=)
14g.50150223A>CCA486175022SOS2c.2169T>G (p.Ala723=)
c.2070T>G (p.Ala690=)
c.1989T>G (p.Ala663=)
c.2130T>G (p.Ala710=)
14g.50150223A>GCA486175023SOS2c.2169T>C (p.Ala723=)
c.2070T>C (p.Ala690=)
c.1989T>C (p.Ala663=)
c.2130T>C (p.Ala710=)
14g.50150223A>TCA486175024SOS2c.2169T>A (p.Ala723=)
c.2070T>A (p.Ala690=)
c.1989T>A (p.Ala663=)
c.2130T>A (p.Ala710=)
gnomAD v4
14g.50150224G>ACA389644052SOS2c.2168C>T (p.Ala723Val)
c.2069C>T (p.Ala690Val)
c.1988C>T (p.Ala663Val)
c.2129C>T (p.Ala710Val)
ClinVar dbSNP gnomAD v4
14g.50150224G>CCA389644053SOS2c.2168C>G (p.Ala723Gly)
c.2069C>G (p.Ala690Gly)
c.1988C>G (p.Ala663Gly)
c.2129C>G (p.Ala710Gly)
14g.50150224G=CA2136039751SOS2c.2168C= (p.Ala723=)
c.2069C= (p.Ala690=)
c.1988C= (p.Ala663=)
c.2129C= (p.Ala710=)
14g.50150224G>TCA389644054SOS2c.2168C>A (p.Ala723Asp)
c.2069C>A (p.Ala690Asp)
c.1988C>A (p.Ala663Asp)
c.2129C>A (p.Ala710Asp)
gnomAD v4
14g.50150225C>ACA389644057SOS2c.2167G>T (p.Ala723Ser)
c.2068G>T (p.Ala690Ser)
c.1987G>T (p.Ala663Ser)
c.2128G>T (p.Ala710Ser)
14g.50150225C>GCA389644055SOS2c.2167G>C (p.Ala723Pro)
c.2068G>C (p.Ala690Pro)
c.1987G>C (p.Ala663Pro)
c.2128G>C (p.Ala710Pro)
14g.50150225C>TCA389644056SOS2c.2167G>A (p.Ala723Thr)
c.2068G>A (p.Ala690Thr)
c.1987G>A (p.Ala663Thr)
c.2128G>A (p.Ala710Thr)
gnomAD v4
14g.50150226T>ACA7177100SOS2c.2166A>T (p.Lys722Asn)
c.2067A>T (p.Lys689Asn)
c.1986A>T (p.Lys662Asn)
c.2127A>T (p.Lys709Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150226T>CCA486175025SOS2c.2166A>G (p.Lys722=)
c.2067A>G (p.Lys689=)
c.1986A>G (p.Lys662=)
c.2127A>G (p.Lys709=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50150226T>GCA389644058SOS2c.2166A>C (p.Lys722Asn)
c.2067A>C (p.Lys689Asn)
c.1986A>C (p.Lys662Asn)
c.2127A>C (p.Lys709Asn)
14g.50150226T=CA2136039754SOS2c.2166A= (p.Lys722=)
c.2067A= (p.Lys689=)
c.1986A= (p.Lys662=)
c.2127A= (p.Lys709=)
14g.50150228delCA2624771068SOS2c.2166del (p.Ala723LeufsTer2)
c.2067del (p.Ala690LeufsTer2)
c.1986del (p.Ala663LeufsTer2)
c.2127del (p.Ala710LeufsTer2)
gnomAD v4
14g.50150227T>ACA389644059SOS2c.2165A>T (p.Lys722Ile)
c.2066A>T (p.Lys689Ile)
c.1985A>T (p.Lys662Ile)
c.2126A>T (p.Lys709Ile)
14g.50150227T>CCA389644060SOS2c.2165A>G (p.Lys722Arg)
c.2066A>G (p.Lys689Arg)
c.1985A>G (p.Lys662Arg)
c.2126A>G (p.Lys709Arg)
14g.50150227T>GCA389644061SOS2c.2165A>C (p.Lys722Thr)
c.2066A>C (p.Lys689Thr)
c.1985A>C (p.Lys662Thr)
c.2126A>C (p.Lys709Thr)
14g.50150228T>ACA389644062SOS2c.2164A>T (p.Lys722Ter)
c.2065A>T (p.Lys689Ter)
c.1984A>T (p.Lys662Ter)
c.2125A>T (p.Lys709Ter)
gnomAD v4
14g.50150228T>CCA389644063SOS2c.2164A>G (p.Lys722Glu)
c.2065A>G (p.Lys689Glu)
c.1984A>G (p.Lys662Glu)
c.2125A>G (p.Lys709Glu)
gnomAD v4
14g.50150228T>GCA389644064SOS2c.2164A>C (p.Lys722Gln)
c.2065A>C (p.Lys689Gln)
c.1984A>C (p.Lys662Gln)
c.2125A>C (p.Lys709Gln)
gnomAD v4
14g.50150229C>ACA486175026SOS2c.2163G>T (p.Gly721=)
c.2064G>T (p.Gly688=)
c.1983G>T (p.Gly661=)
c.2124G>T (p.Gly708=)
14g.50150229C>GCA486175027SOS2c.2163G>C (p.Gly721=)
c.2064G>C (p.Gly688=)
c.1983G>C (p.Gly661=)
c.2124G>C (p.Gly708=)
14g.50150229C>TCA486175028SOS2c.2163G>A (p.Gly721=)
c.2064G>A (p.Gly688=)
c.1983G>A (p.Gly661=)
c.2124G>A (p.Gly708=)
gnomAD v4
14g.50150230C>ACA389644065SOS2c.2162G>T (p.Gly721Val)
c.2063G>T (p.Gly688Val)
c.1982G>T (p.Gly661Val)
c.2123G>T (p.Gly708Val)
14g.50150230C=CA2136039757SOS2c.2162G= (p.Gly721=)
c.2063G= (p.Gly688=)
c.1982G= (p.Gly661=)
c.2123G= (p.Gly708=)
14g.50150230C>GCA389644066SOS2c.2162G>C (p.Gly721Ala)
c.2063G>C (p.Gly688Ala)
c.1982G>C (p.Gly661Ala)
c.2123G>C (p.Gly708Ala)
14g.50150230C>TCA389644067SOS2c.2162G>A (p.Gly721Glu)
c.2063G>A (p.Gly688Glu)
c.1982G>A (p.Gly661Glu)
c.2123G>A (p.Gly708Glu)
dbSNP
14g.50150231C>ACA389644069SOS2c.2162-1G>T (n.2162-1G>T)
c.2063-1G>T (n.2063-1G>T)
c.1982-1G>T (n.1982-1G>T)
c.2123-1G>T (n.2123-1G>T)
14g.50150231C>GCA389644070SOS2c.2162-1G>C (n.2162-1G>C)
c.2063-1G>C (n.2063-1G>C)
c.1982-1G>C (n.1982-1G>C)
c.2123-1G>C (n.2123-1G>C)
14g.50150231C>TCA389644068SOS2c.2162-1G>A (n.2162-1G>A)
c.2063-1G>A (n.2063-1G>A)
c.1982-1G>A (n.1982-1G>A)
c.2123-1G>A (n.2123-1G>A)
14g.50150232T>ACA389644072SOS2c.2162-2A>T (n.2162-2A>T)
c.2063-2A>T (n.2063-2A>T)
c.1982-2A>T (n.1982-2A>T)
c.2123-2A>T (n.2123-2A>T)
gnomAD v4
14g.50150232T>CCA389644071SOS2c.2162-2A>G (n.2162-2A>G)
c.2063-2A>G (n.2063-2A>G)
c.1982-2A>G (n.1982-2A>G)
c.2123-2A>G (n.2123-2A>G)
gnomAD v4
14g.50150232T>GCA389644073SOS2c.2162-2A>C (n.2162-2A>C)
c.2063-2A>C (n.2063-2A>C)
c.1982-2A>C (n.1982-2A>C)
c.2123-2A>C (n.2123-2A>C)
14g.50150233G>TCA2624771069SOS2c.2162-3C>A (n.2162-3C>A)
c.2063-3C>A (n.2063-3C>A)
c.1982-3C>A (n.1982-3C>A)
c.2123-3C>A (n.2123-3C>A)
gnomAD v4
14g.50150234G=CA2136039764SOS2c.2162-4C= (n.2162-4C=)
c.2063-4C= (n.2063-4C=)
c.1982-4C= (n.1982-4C=)
c.2123-4C= (n.2123-4C=)
14g.50150234G>TCA7177101SOS2c.2162-4C>A (n.2162-4C>A)
c.2063-4C>A (n.2063-4C>A)
c.1982-4C>A (n.1982-4C>A)
c.2123-4C>A (n.2123-4C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150235A>GCA2624771070SOS2c.2162-5T>C (n.2162-5T>C)
c.2063-5T>C (n.2063-5T>C)
c.1982-5T>C (n.1982-5T>C)
c.2123-5T>C (n.2123-5T>C)
gnomAD v4
14g.50150239delCA2624771071SOS2c.2162-5del (n.2162-5del)
c.2063-5del (n.2063-5del)
c.1982-5del (n.1982-5del)
c.2123-5del (n.2123-5del)
gnomAD v4
14g.50150236A=CA2136039767SOS2c.2162-6T= (n.2162-6T=)
c.2063-6T= (n.2063-6T=)
c.1982-6T= (n.1982-6T=)
c.2123-6T= (n.2123-6T=)
14g.50150236A>GCA2136039769SOS2c.2162-6T>C (n.2162-6T>C)
c.2063-6T>C (n.2063-6T>C)
c.1982-6T>C (n.1982-6T>C)
c.2123-6T>C (n.2123-6T>C)
dbSNP
14g.50150236A>TCA2739279492SOS2c.2162-6T>A (n.2162-6T>A)
c.2063-6T>A (n.2063-6T>A)
c.1982-6T>A (n.1982-6T>A)
c.2123-6T>A (n.2123-6T>A)
ClinVar
14g.50150237A=CA2136039772SOS2c.2162-7T= (n.2162-7T=)
c.2063-7T= (n.2063-7T=)
c.1982-7T= (n.1982-7T=)
c.2123-7T= (n.2123-7T=)
14g.50150237A>TCA614274479SOS2c.2162-7T>A (n.2162-7T>A)
c.2063-7T>A (n.2063-7T>A)
c.1982-7T>A (n.1982-7T>A)
c.2123-7T>A (n.2123-7T>A)
dbSNP gnomAD v2 gnomAD v4
14g.50150239A=CA2136039777SOS2c.2162-9T= (n.2162-9T=)
c.2063-9T= (n.2063-9T=)
c.1982-9T= (n.1982-9T=)
c.2123-9T= (n.2123-9T=)
14g.50150239A>CCA614274480SOS2c.2162-9T>G (n.2162-9T>G)
c.2063-9T>G (n.2063-9T>G)
c.1982-9T>G (n.1982-9T>G)
c.2123-9T>G (n.2123-9T>G)
dbSNP gnomAD v2 gnomAD v4
14g.50150239A>GCA614274481SOS2c.2162-9T>C (n.2162-9T>C)
c.2063-9T>C (n.2063-9T>C)
c.1982-9T>C (n.1982-9T>C)
c.2123-9T>C (n.2123-9T>C)
dbSNP gnomAD v2 gnomAD v4
14g.50150240G>ACA7177102SOS2c.2162-10C>T (n.2162-10C>T)
c.2063-10C>T (n.2063-10C>T)
c.1982-10C>T (n.1982-10C>T)
c.2123-10C>T (n.2123-10C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150240G>CCA2136039787SOS2c.2162-10C>G (n.2162-10C>G)
c.2063-10C>G (n.2063-10C>G)
c.1982-10C>G (n.1982-10C>G)
c.2123-10C>G (n.2123-10C>G)
ClinVar dbSNP gnomAD v4
14g.50150240G=CA2136039785SOS2c.2162-10C= (n.2162-10C=)
c.2063-10C= (n.2063-10C=)
c.1982-10C= (n.1982-10C=)
c.2123-10C= (n.2123-10C=)
14g.50150240G>TCA614274482SOS2c.2162-10C>A (n.2162-10C>A)
c.2063-10C>A (n.2063-10C>A)
c.1982-10C>A (n.1982-10C>A)
c.2123-10C>A (n.2123-10C>A)
dbSNP gnomAD v2 gnomAD v4
14g.50150241A=CA2136039790SOS2c.2162-11T= (n.2162-11T=)
c.2063-11T= (n.2063-11T=)
c.1982-11T= (n.1982-11T=)
c.2123-11T= (n.2123-11T=)
14g.50150241A>GCA7177103SOS2c.2162-11T>C (n.2162-11T>C)
c.2063-11T>C (n.2063-11T>C)
c.1982-11T>C (n.1982-11T>C)
c.2123-11T>C (n.2123-11T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150242A=CA2136039793SOS2c.2162-12T= (n.2162-12T=)
c.2063-12T= (n.2063-12T=)
c.1982-12T= (n.1982-12T=)
c.2123-12T= (n.2123-12T=)
14g.50150242A>GCA7177104SOS2c.2162-12T>C (n.2162-12T>C)
c.2063-12T>C (n.2063-12T>C)
c.1982-12T>C (n.1982-12T>C)
c.2123-12T>C (n.2123-12T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.50150245_50150246dupCA2575520421SOS2c.2162-13_2162-12dup (n.2162-13_2162-12dup)
c.2063-13_2063-12dup (n.2063-13_2063-12dup)
c.1982-13_1982-12dup (n.1982-13_1982-12dup)
c.2123-13_2123-12dup (n.2123-13_2123-12dup)
gnomAD v4
14g.50150243C>ACA614274483SOS2c.2162-13G>T (n.2162-13G>T)
c.2063-13G>T (n.2063-13G>T)
c.1982-13G>T (n.1982-13G>T)
c.2123-13G>T (n.2123-13G>T)
dbSNP gnomAD v2 gnomAD v4
14g.50150243C=CA2136039798SOS2c.2162-13G= (n.2162-13G=)
c.2063-13G= (n.2063-13G=)
c.1982-13G= (n.1982-13G=)
c.2123-13G= (n.2123-13G=)
14g.50150243C>GCA614274484SOS2c.2162-13G>C (n.2162-13G>C)
c.2063-13G>C (n.2063-13G>C)
c.1982-13G>C (n.1982-13G>C)
c.2123-13G>C (n.2123-13G>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.50150243C>TCA7177105SOS2c.2162-13G>A (n.2162-13G>A)
c.2063-13G>A (n.2063-13G>A)
c.1982-13G>A (n.1982-13G>A)
c.2123-13G>A (n.2123-13G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched