Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.50150115_50150159dup | CA1139663471 | SOS2 | c.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 |
14 | g.50150157T>A | CA486174990 | SOS2 | c.2235A>T (p.Gly745=) c.2136A>T (p.Gly712=) c.2055A>T (p.Gly685=) c.2196A>T (p.Gly732=) | |
14 | g.50150157T>C | CA486174991 | SOS2 | c.2235A>G (p.Gly745=) c.2136A>G (p.Gly712=) c.2055A>G (p.Gly685=) c.2196A>G (p.Gly732=) | |
14 | g.50150157T>G | CA486174992 | SOS2 | c.2235A>C (p.Gly745=) c.2136A>C (p.Gly712=) c.2055A>C (p.Gly685=) c.2196A>C (p.Gly732=) | gnomAD v4 |
14 | g.50150158C>A | CA389643902 | SOS2 | c.2234G>T (p.Gly745Val) c.2135G>T (p.Gly712Val) c.2054G>T (p.Gly685Val) c.2195G>T (p.Gly732Val) | |
14 | g.50150158C= | CA2136039668 | SOS2 | c.2234G= (p.Gly745=) c.2135G= (p.Gly712=) c.2054G= (p.Gly685=) c.2195G= (p.Gly732=) | |
14 | g.50150158C>G | CA389643903 | SOS2 | c.2234G>C (p.Gly745Ala) c.2135G>C (p.Gly712Ala) c.2054G>C (p.Gly685Ala) c.2195G>C (p.Gly732Ala) | gnomAD v4 |
14 | g.50150158C>T | CA260729910 | SOS2 | c.2234G>A (p.Gly745Glu) c.2135G>A (p.Gly712Glu) c.2054G>A (p.Gly685Glu) c.2195G>A (p.Gly732Glu) | dbSNP |
14 | g.50150159C>A | CA389643904 | SOS2 | c.2233G>T (p.Gly745Ter) c.2134G>T (p.Gly712Ter) c.2053G>T (p.Gly685Ter) c.2194G>T (p.Gly732Ter) | gnomAD v4 |
14 | g.50150159C>G | CA389643905 | SOS2 | c.2233G>C (p.Gly745Arg) c.2134G>C (p.Gly712Arg) c.2053G>C (p.Gly685Arg) c.2194G>C (p.Gly732Arg) | |
14 | g.50150159C>T | CA389643906 | SOS2 | c.2233G>A (p.Gly745Arg) c.2134G>A (p.Gly712Arg) c.2053G>A (p.Gly685Arg) c.2194G>A (p.Gly732Arg) | ClinVar dbSNP gnomAD v4 |
14 | g.50150160G>A | CA7177086 | SOS2 | c.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 |
14 | g.50150160G>C | CA389643907 | SOS2 | c.2232C>G (p.Asn744Lys) c.2133C>G (p.Asn711Lys) c.2052C>G (p.Asn684Lys) c.2193C>G (p.Asn731Lys) | |
14 | g.50150160G= | CA2136039670 | SOS2 | c.2232C= (p.Asn744=) c.2133C= (p.Asn711=) c.2052C= (p.Asn684=) c.2193C= (p.Asn731=) | |
14 | g.50150160G>T | CA389643908 | SOS2 | c.2232C>A (p.Asn744Lys) c.2133C>A (p.Asn711Lys) c.2052C>A (p.Asn684Lys) c.2193C>A (p.Asn731Lys) | |
14 | g.50150160_50150161delinsAC | CA2573149967 | SOS2 | c.2231_2232delinsGT (p.Asn744Ser) c.2132_2133delinsGT (p.Asn711Ser) c.2051_2052delinsGT (p.Asn684Ser) c.2192_2193delinsGT (p.Asn731Ser) | ClinVar |
14 | g.50150161T>A | CA389643911 | SOS2 | c.2231A>T (p.Asn744Ile) c.2132A>T (p.Asn711Ile) c.2051A>T (p.Asn684Ile) c.2192A>T (p.Asn731Ile) | |
14 | g.50150161T>C | CA389643909 | SOS2 | c.2231A>G (p.Asn744Ser) c.2132A>G (p.Asn711Ser) c.2051A>G (p.Asn684Ser) c.2192A>G (p.Asn731Ser) | |
14 | g.50150161T>G | CA389643910 | SOS2 | c.2231A>C (p.Asn744Thr) c.2132A>C (p.Asn711Thr) c.2051A>C (p.Asn684Thr) c.2192A>C (p.Asn731Thr) | |
14 | g.50150161_50150257dup | CA1139663472 | SOS2 | c.2162-27_2231dup c.2063-27_2132dup c.1982-27_2051dup c.2123-27_2192dup | ClinVar dbSNP |
14 | g.50150162T>A | CA389643912 | SOS2 | c.2230A>T (p.Asn744Tyr) c.2131A>T (p.Asn711Tyr) c.2050A>T (p.Asn684Tyr) c.2191A>T (p.Asn731Tyr) | |
14 | g.50150162T>C | CA389643913 | SOS2 | c.2230A>G (p.Asn744Asp) c.2131A>G (p.Asn711Asp) c.2050A>G (p.Asn684Asp) c.2191A>G (p.Asn731Asp) | |
14 | g.50150162T>G | CA389643914 | SOS2 | c.2230A>C (p.Asn744His) c.2131A>C (p.Asn711His) c.2050A>C (p.Asn684His) c.2191A>C (p.Asn731His) | |
14 | g.50150163T>A | CA486174995 | SOS2 | c.2229A>T (p.Ala743=) c.2130A>T (p.Ala710=) c.2049A>T (p.Ala683=) c.2190A>T (p.Ala730=) | |
14 | g.50150163T>C | CA486174994 | SOS2 | c.2229A>G (p.Ala743=) c.2130A>G (p.Ala710=) c.2049A>G (p.Ala683=) c.2190A>G (p.Ala730=) | |
14 | g.50150163T>G | CA486174993 | SOS2 | c.2229A>C (p.Ala743=) c.2130A>C (p.Ala710=) c.2049A>C (p.Ala683=) c.2190A>C (p.Ala730=) | |
14 | g.50150164G>A | CA389643915 | SOS2 | c.2228C>T (p.Ala743Val) c.2129C>T (p.Ala710Val) c.2048C>T (p.Ala683Val) c.2189C>T (p.Ala730Val) | |
14 | g.50150164G>C | CA7177087 | SOS2 | c.2228C>G (p.Ala743Gly) c.2129C>G (p.Ala710Gly) c.2048C>G (p.Ala683Gly) c.2189C>G (p.Ala730Gly) | ClinVar dbSNP ExAC gnomAD v2 |
14 | g.50150164G= | CA2136039677 | SOS2 | c.2228C= (p.Ala743=) c.2129C= (p.Ala710=) c.2048C= (p.Ala683=) c.2189C= (p.Ala730=) | |
14 | g.50150164G>T | CA389643916 | SOS2 | c.2228C>A (p.Ala743Glu) c.2129C>A (p.Ala710Glu) c.2048C>A (p.Ala683Glu) c.2189C>A (p.Ala730Glu) | |
14 | g.50150166_50150171del | CA2624771064 | SOS2 | c.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 |
14 | g.50150165C>A | CA389643917 | SOS2 | c.2227G>T (p.Ala743Ser) c.2128G>T (p.Ala710Ser) c.2047G>T (p.Ala683Ser) c.2188G>T (p.Ala730Ser) | gnomAD v4 |
14 | g.50150165C>G | CA389643918 | SOS2 | c.2227G>C (p.Ala743Pro) c.2128G>C (p.Ala710Pro) c.2047G>C (p.Ala683Pro) c.2188G>C (p.Ala730Pro) | |
14 | g.50150165C>T | CA389643919 | SOS2 | c.2227G>A (p.Ala743Thr) c.2128G>A (p.Ala710Thr) c.2047G>A (p.Ala683Thr) c.2188G>A (p.Ala730Thr) | |
14 | g.50150166C>A | CA389643920 | SOS2 | c.2226G>T (p.Gln742His) c.2127G>T (p.Gln709His) c.2046G>T (p.Gln682His) c.2187G>T (p.Gln729His) | |
14 | g.50150166C>G | CA389643921 | SOS2 | c.2226G>C (p.Gln742His) c.2127G>C (p.Gln709His) c.2046G>C (p.Gln682His) c.2187G>C (p.Gln729His) | |
14 | g.50150166C>T | CA486174996 | SOS2 | c.2226G>A (p.Gln742=) c.2127G>A (p.Gln709=) c.2046G>A (p.Gln682=) c.2187G>A (p.Gln729=) | |
14 | g.50150167T>A | CA389643923 | SOS2 | c.2225A>T (p.Gln742Leu) c.2126A>T (p.Gln709Leu) c.2045A>T (p.Gln682Leu) c.2186A>T (p.Gln729Leu) | |
14 | g.50150167T>C | CA389643924 | SOS2 | c.2225A>G (p.Gln742Arg) c.2126A>G (p.Gln709Arg) c.2045A>G (p.Gln682Arg) c.2186A>G (p.Gln729Arg) | gnomAD v4 |
14 | g.50150167T>G | CA389643922 | SOS2 | c.2225A>C (p.Gln742Pro) c.2126A>C (p.Gln709Pro) c.2045A>C (p.Gln682Pro) c.2186A>C (p.Gln729Pro) | gnomAD v4 |
14 | g.50150167_50150168delinsTG | CA2136039682 | SOS2 | c.2224_2225delinsCA (p.Gln742=) c.2125_2126delinsCA (p.Gln709=) c.2044_2045delinsCA (p.Gln682=) c.2185_2186delinsCA (p.Gln729=) | |
14 | g.50150168del | CA706556679 | SOS2 | c.2224del (p.Gln742ArgfsTer5) c.2125del (p.Gln709ArgfsTer5) c.2044del (p.Gln682ArgfsTer5) c.2185del (p.Gln729ArgfsTer5) | dbSNP |
14 | g.50150168G>A | CA389643925 | SOS2 | c.2224C>T (p.Gln742Ter) c.2125C>T (p.Gln709Ter) c.2044C>T (p.Gln682Ter) c.2185C>T (p.Gln729Ter) | |
14 | g.50150168G>C | CA389643926 | SOS2 | c.2224C>G (p.Gln742Glu) c.2125C>G (p.Gln709Glu) c.2044C>G (p.Gln682Glu) c.2185C>G (p.Gln729Glu) | |
14 | g.50150168G>T | CA389643927 | SOS2 | c.2224C>A (p.Gln742Lys) c.2125C>A (p.Gln709Lys) c.2044C>A (p.Gln682Lys) c.2185C>A (p.Gln729Lys) | |
14 | g.50150169A>C | CA486174997 | SOS2 | c.2223T>G (p.Ala741=) c.2124T>G (p.Ala708=) c.2043T>G (p.Ala681=) c.2184T>G (p.Ala728=) | |
14 | g.50150169A>G | CA486174998 | SOS2 | c.2223T>C (p.Ala741=) c.2124T>C (p.Ala708=) c.2043T>C (p.Ala681=) c.2184T>C (p.Ala728=) | gnomAD v4 |
14 | g.50150169A>T | CA486174999 | SOS2 | c.2223T>A (p.Ala741=) c.2124T>A (p.Ala708=) c.2043T>A (p.Ala681=) c.2184T>A (p.Ala728=) | |
14 | g.50150170G>A | CA389643928 | SOS2 | c.2222C>T (p.Ala741Val) c.2123C>T (p.Ala708Val) c.2042C>T (p.Ala681Val) c.2183C>T (p.Ala728Val) | |
14 | g.50150170G>C | CA389643929 | SOS2 | c.2222C>G (p.Ala741Gly) c.2123C>G (p.Ala708Gly) c.2042C>G (p.Ala681Gly) c.2183C>G (p.Ala728Gly) | |
14 | g.50150170G>T | CA389643930 | SOS2 | c.2222C>A (p.Ala741Asp) c.2123C>A (p.Ala708Asp) c.2042C>A (p.Ala681Asp) c.2183C>A (p.Ala728Asp) | |
14 | g.50150171C>A | CA389643933 | SOS2 | c.2221G>T (p.Ala741Ser) c.2122G>T (p.Ala708Ser) c.2041G>T (p.Ala681Ser) c.2182G>T (p.Ala728Ser) | |
14 | g.50150171C= | CA2136039685 | SOS2 | c.2221G= (p.Ala741=) c.2122G= (p.Ala708=) c.2041G= (p.Ala681=) c.2182G= (p.Ala728=) | |
14 | g.50150171C>G | CA389643931 | SOS2 | c.2221G>C (p.Ala741Pro) c.2122G>C (p.Ala708Pro) c.2041G>C (p.Ala681Pro) c.2182G>C (p.Ala728Pro) | |
14 | g.50150171C>T | CA389643932 | SOS2 | c.2221G>A (p.Ala741Thr) c.2122G>A (p.Ala708Thr) c.2041G>A (p.Ala681Thr) c.2182G>A (p.Ala728Thr) | ClinVar dbSNP gnomAD v4 |
14 | g.50150172T>A | CA7177089 | SOS2 | c.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 |
14 | g.50150172T>C | CA486175000 | SOS2 | c.2220A>G (p.Gln740=) c.2121A>G (p.Gln707=) c.2040A>G (p.Gln680=) c.2181A>G (p.Gln727=) | |
14 | g.50150172T>G | CA7177088 | SOS2 | c.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 |
14 | g.50150172T= | CA2136039689 | SOS2 | c.2220A= (p.Gln740=) c.2121A= (p.Gln707=) c.2040A= (p.Gln680=) c.2181A= (p.Gln727=) | |
14 | g.50150173T>A | CA389643934 | SOS2 | c.2219A>T (p.Gln740Leu) c.2120A>T (p.Gln707Leu) c.2039A>T (p.Gln680Leu) c.2180A>T (p.Gln727Leu) | |
14 | g.50150173T>C | CA389643935 | SOS2 | c.2219A>G (p.Gln740Arg) c.2120A>G (p.Gln707Arg) c.2039A>G (p.Gln680Arg) c.2180A>G (p.Gln727Arg) | |
14 | g.50150173T>G | CA389643936 | SOS2 | c.2219A>C (p.Gln740Pro) c.2120A>C (p.Gln707Pro) c.2039A>C (p.Gln680Pro) c.2180A>C (p.Gln727Pro) | |
14 | g.50150174G>A | CA389643937 | SOS2 | c.2218C>T (p.Gln740Ter) c.2119C>T (p.Gln707Ter) c.2038C>T (p.Gln680Ter) c.2179C>T (p.Gln727Ter) | |
14 | g.50150174G>C | CA389643939 | SOS2 | c.2218C>G (p.Gln740Glu) c.2119C>G (p.Gln707Glu) c.2038C>G (p.Gln680Glu) c.2179C>G (p.Gln727Glu) | |
14 | g.50150174G>T | CA389643938 | SOS2 | c.2218C>A (p.Gln740Lys) c.2119C>A (p.Gln707Lys) c.2038C>A (p.Gln680Lys) c.2179C>A (p.Gln727Lys) | |
14 | g.50150175C>A | CA7177091 | SOS2 | c.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 |
14 | g.50150175C= | CA2136039693 | SOS2 | c.2217G= (p.Lys739=) c.2118G= (p.Lys706=) c.2037G= (p.Lys679=) c.2178G= (p.Lys726=) | |
14 | g.50150175C>G | CA389643940 | SOS2 | c.2217G>C (p.Lys739Asn) c.2118G>C (p.Lys706Asn) c.2037G>C (p.Lys679Asn) c.2178G>C (p.Lys726Asn) | |
14 | g.50150175C>T | CA7177090 | SOS2 | c.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 |
14 | g.50150176T>A | CA389643941 | SOS2 | c.2216A>T (p.Lys739Met) c.2117A>T (p.Lys706Met) c.2036A>T (p.Lys679Met) c.2177A>T (p.Lys726Met) | |
14 | g.50150176T>C | CA389643942 | SOS2 | c.2216A>G (p.Lys739Arg) c.2117A>G (p.Lys706Arg) c.2036A>G (p.Lys679Arg) c.2177A>G (p.Lys726Arg) | |
14 | g.50150176T>G | CA389643943 | SOS2 | c.2216A>C (p.Lys739Thr) c.2117A>C (p.Lys706Thr) c.2036A>C (p.Lys679Thr) c.2177A>C (p.Lys726Thr) | |
14 | g.50150177T>A | CA389643944 | SOS2 | c.2215A>T (p.Lys739Ter) c.2116A>T (p.Lys706Ter) c.2035A>T (p.Lys679Ter) c.2176A>T (p.Lys726Ter) | |
14 | g.50150177T>C | CA389643945 | SOS2 | c.2215A>G (p.Lys739Glu) c.2116A>G (p.Lys706Glu) c.2035A>G (p.Lys679Glu) c.2176A>G (p.Lys726Glu) | |
14 | g.50150177T>G | CA389643946 | SOS2 | c.2215A>C (p.Lys739Gln) c.2116A>C (p.Lys706Gln) c.2035A>C (p.Lys679Gln) c.2176A>C (p.Lys726Gln) | |
14 | g.50150178C>A | CA389643947 | SOS2 | c.2214G>T (p.Lys738Asn) c.2115G>T (p.Lys705Asn) c.2034G>T (p.Lys678Asn) c.2175G>T (p.Lys725Asn) | |
14 | g.50150178C>G | CA389643948 | SOS2 | c.2214G>C (p.Lys738Asn) c.2115G>C (p.Lys705Asn) c.2034G>C (p.Lys678Asn) c.2175G>C (p.Lys725Asn) | |
14 | g.50150178C>T | CA486175001 | SOS2 | c.2214G>A (p.Lys738=) c.2115G>A (p.Lys705=) c.2034G>A (p.Lys678=) c.2175G>A (p.Lys725=) | ClinVar gnomAD v4 |
14 | g.50150179T>A | CA389643950 | SOS2 | c.2213A>T (p.Lys738Met) c.2114A>T (p.Lys705Met) c.2033A>T (p.Lys678Met) c.2174A>T (p.Lys725Met) | |
14 | g.50150179T>C | CA7177092 | SOS2 | c.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 |
14 | g.50150179T>G | CA389643949 | SOS2 | c.2213A>C (p.Lys738Thr) c.2114A>C (p.Lys705Thr) c.2033A>C (p.Lys678Thr) c.2174A>C (p.Lys725Thr) | |
14 | g.50150179T= | CA2136039696 | SOS2 | c.2213A= (p.Lys738=) c.2114A= (p.Lys705=) c.2033A= (p.Lys678=) c.2174A= (p.Lys725=) | |
14 | g.50150180T>A | CA389643951 | SOS2 | c.2212A>T (p.Lys738Ter) c.2113A>T (p.Lys705Ter) c.2032A>T (p.Lys678Ter) c.2173A>T (p.Lys725Ter) | |
14 | g.50150180T>C | CA389643953 | SOS2 | c.2212A>G (p.Lys738Glu) c.2113A>G (p.Lys705Glu) c.2032A>G (p.Lys678Glu) c.2173A>G (p.Lys725Glu) | |
14 | g.50150180T>G | CA389643952 | SOS2 | c.2212A>C (p.Lys738Gln) c.2113A>C (p.Lys705Gln) c.2032A>C (p.Lys678Gln) c.2173A>C (p.Lys725Gln) | |
14 | g.50150181C>A | CA389643954 | SOS2 | c.2211G>T (p.Arg737Ser) c.2112G>T (p.Arg704Ser) c.2031G>T (p.Arg677Ser) c.2172G>T (p.Arg724Ser) | |
14 | g.50150181C>G | CA389643955 | SOS2 | c.2211G>C (p.Arg737Ser) c.2112G>C (p.Arg704Ser) c.2031G>C (p.Arg677Ser) c.2172G>C (p.Arg724Ser) | |
14 | g.50150181C>T | CA486175002 | SOS2 | c.2211G>A (p.Arg737=) c.2112G>A (p.Arg704=) c.2031G>A (p.Arg677=) c.2172G>A (p.Arg724=) | |
14 | g.50150182C>A | CA389643956 | SOS2 | c.2210G>T (p.Arg737Met) c.2111G>T (p.Arg704Met) c.2030G>T (p.Arg677Met) c.2171G>T (p.Arg724Met) | |
14 | g.50150182C>G | CA389643957 | SOS2 | c.2210G>C (p.Arg737Thr) c.2111G>C (p.Arg704Thr) c.2030G>C (p.Arg677Thr) c.2171G>C (p.Arg724Thr) | |
14 | g.50150182C>T | CA389643958 | SOS2 | c.2210G>A (p.Arg737Lys) c.2111G>A (p.Arg704Lys) c.2030G>A (p.Arg677Lys) c.2171G>A (p.Arg724Lys) | |
14 | g.50150183T>A | CA389643959 | SOS2 | c.2209A>T (p.Arg737Trp) c.2110A>T (p.Arg704Trp) c.2029A>T (p.Arg677Trp) c.2170A>T (p.Arg724Trp) | gnomAD v4 |
14 | g.50150183T>C | CA389643960 | SOS2 | c.2209A>G (p.Arg737Gly) c.2110A>G (p.Arg704Gly) c.2029A>G (p.Arg677Gly) c.2170A>G (p.Arg724Gly) | |
14 | g.50150183T>G | CA486175003 | SOS2 | c.2209A>C (p.Arg737=) c.2110A>C (p.Arg704=) c.2029A>C (p.Arg677=) c.2170A>C (p.Arg724=) | |
14 | g.50150184C>A | CA389643961 | SOS2 | c.2208G>T (p.Arg736Ser) c.2109G>T (p.Arg703Ser) c.2028G>T (p.Arg676Ser) c.2169G>T (p.Arg723Ser) | |
14 | g.50150184C>G | CA389643962 | SOS2 | c.2208G>C (p.Arg736Ser) c.2109G>C (p.Arg703Ser) c.2028G>C (p.Arg676Ser) c.2169G>C (p.Arg723Ser) | |
14 | g.50150184C>T | CA486175004 | SOS2 | c.2208G>A (p.Arg736=) c.2109G>A (p.Arg703=) c.2028G>A (p.Arg676=) c.2169G>A (p.Arg723=) | |
14 | g.50150185C>A | CA389643963 | SOS2 | c.2207G>T (p.Arg736Met) c.2108G>T (p.Arg703Met) c.2027G>T (p.Arg676Met) c.2168G>T (p.Arg723Met) | |
14 | g.50150185C= | CA2136039699 | SOS2 | c.2207G= (p.Arg736=) c.2108G= (p.Arg703=) c.2027G= (p.Arg676=) c.2168G= (p.Arg723=) | |
14 | g.50150185C>G | CA389643964 | SOS2 | c.2207G>C (p.Arg736Thr) c.2108G>C (p.Arg703Thr) c.2027G>C (p.Arg676Thr) c.2168G>C (p.Arg723Thr) | |
14 | g.50150185C>T | CA7177093 | SOS2 | c.2207G>A (p.Arg736Lys) c.2108G>A (p.Arg703Lys) c.2027G>A (p.Arg676Lys) c.2168G>A (p.Arg723Lys) | dbSNP ExAC gnomAD v2 |
14 | g.50150186T>A | CA389643965 | SOS2 | c.2206A>T (p.Arg736Trp) c.2107A>T (p.Arg703Trp) c.2026A>T (p.Arg676Trp) c.2167A>T (p.Arg723Trp) | |
14 | g.50150186T>C | CA389643966 | SOS2 | c.2206A>G (p.Arg736Gly) c.2107A>G (p.Arg703Gly) c.2026A>G (p.Arg676Gly) c.2167A>G (p.Arg723Gly) | gnomAD v4 |
14 | g.50150186T>G | CA486175005 | SOS2 | c.2206A>C (p.Arg736=) c.2107A>C (p.Arg703=) c.2026A>C (p.Arg676=) c.2167A>C (p.Arg723=) | |
14 | g.50150187G>A | CA486175007 | SOS2 | c.2205C>T (p.Ile735=) c.2106C>T (p.Ile702=) c.2025C>T (p.Ile675=) c.2166C>T (p.Ile722=) | |
14 | g.50150187G>C | CA389643967 | SOS2 | c.2205C>G (p.Ile735Met) c.2106C>G (p.Ile702Met) c.2025C>G (p.Ile675Met) c.2166C>G (p.Ile722Met) | |
14 | g.50150187G>T | CA486175006 | SOS2 | c.2205C>A (p.Ile735=) c.2106C>A (p.Ile702=) c.2025C>A (p.Ile675=) c.2166C>A (p.Ile722=) | gnomAD v4 |
14 | g.50150188A>C | CA389643970 | SOS2 | c.2204T>G (p.Ile735Ser) c.2105T>G (p.Ile702Ser) c.2024T>G (p.Ile675Ser) c.2165T>G (p.Ile722Ser) | |
14 | g.50150188A>G | CA389643969 | SOS2 | c.2204T>C (p.Ile735Thr) c.2105T>C (p.Ile702Thr) c.2024T>C (p.Ile675Thr) c.2165T>C (p.Ile722Thr) | |
14 | g.50150188A>T | CA389643968 | SOS2 | c.2204T>A (p.Ile735Asn) c.2105T>A (p.Ile702Asn) c.2024T>A (p.Ile675Asn) c.2165T>A (p.Ile722Asn) | ClinVar gnomAD v4 |
14 | g.50150189T>A | CA389643971 | SOS2 | c.2203A>T (p.Ile735Phe) c.2104A>T (p.Ile702Phe) c.2023A>T (p.Ile675Phe) c.2164A>T (p.Ile722Phe) | |
14 | g.50150189T>C | CA389643972 | SOS2 | c.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 |
14 | g.50150189T>G | CA389643973 | SOS2 | c.2203A>C (p.Ile735Leu) c.2104A>C (p.Ile702Leu) c.2023A>C (p.Ile675Leu) c.2164A>C (p.Ile722Leu) | |
14 | g.50150189T= | CA2136039705 | SOS2 | c.2203A= (p.Ile735=) c.2104A= (p.Ile702=) c.2023A= (p.Ile675=) c.2164A= (p.Ile722=) | |
14 | g.50150190G>A | CA7177094 | SOS2 | c.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 |
14 | g.50150190G>C | CA389643974 | SOS2 | c.2202C>G (p.Ile734Met) c.2103C>G (p.Ile701Met) c.2022C>G (p.Ile674Met) c.2163C>G (p.Ile721Met) | |
14 | g.50150190G= | CA2136039708 | SOS2 | c.2202C= (p.Ile734=) c.2103C= (p.Ile701=) c.2022C= (p.Ile674=) c.2163C= (p.Ile721=) | |
14 | g.50150190G>T | CA486175008 | SOS2 | c.2202C>A (p.Ile734=) c.2103C>A (p.Ile701=) c.2022C>A (p.Ile674=) c.2163C>A (p.Ile721=) | |
14 | g.50150191A= | CA2136039714 | SOS2 | c.2201T= (p.Ile734=) c.2102T= (p.Ile701=) c.2021T= (p.Ile674=) c.2162T= (p.Ile721=) | |
14 | g.50150191A>C | CA389643975 | SOS2 | c.2201T>G (p.Ile734Ser) c.2102T>G (p.Ile701Ser) c.2021T>G (p.Ile674Ser) c.2162T>G (p.Ile721Ser) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50150191A>G | CA389643976 | SOS2 | c.2201T>C (p.Ile734Thr) c.2102T>C (p.Ile701Thr) c.2021T>C (p.Ile674Thr) c.2162T>C (p.Ile721Thr) | dbSNP |
14 | g.50150191A>T | CA389643977 | SOS2 | c.2201T>A (p.Ile734Asn) c.2102T>A (p.Ile701Asn) c.2021T>A (p.Ile674Asn) c.2162T>A (p.Ile721Asn) | gnomAD v4 |
14 | g.50150192T>A | CA389643978 | SOS2 | c.2200A>T (p.Ile734Phe) c.2101A>T (p.Ile701Phe) c.2020A>T (p.Ile674Phe) c.2161A>T (p.Ile721Phe) | gnomAD v4 |
14 | g.50150192T>C | CA389643979 | SOS2 | c.2200A>G (p.Ile734Val) c.2101A>G (p.Ile701Val) c.2020A>G (p.Ile674Val) c.2161A>G (p.Ile721Val) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50150192T>G | CA389643980 | SOS2 | c.2200A>C (p.Ile734Leu) c.2101A>C (p.Ile701Leu) c.2020A>C (p.Ile674Leu) c.2161A>C (p.Ile721Leu) | |
14 | g.50150192T= | CA2136039717 | SOS2 | c.2200A= (p.Ile734=) c.2101A= (p.Ile701=) c.2020A= (p.Ile674=) c.2161A= (p.Ile721=) | |
14 | g.50150193C>A | CA389643981 | SOS2 | c.2199G>T (p.Lys733Asn) c.2100G>T (p.Lys700Asn) c.2019G>T (p.Lys673Asn) c.2160G>T (p.Lys720Asn) | |
14 | g.50150193C= | CA2136039719 | SOS2 | c.2199G= (p.Lys733=) c.2100G= (p.Lys700=) c.2019G= (p.Lys673=) c.2160G= (p.Lys720=) | |
14 | g.50150193C>G | CA389643982 | SOS2 | c.2199G>C (p.Lys733Asn) c.2100G>C (p.Lys700Asn) c.2019G>C (p.Lys673Asn) c.2160G>C (p.Lys720Asn) | gnomAD v4 |
14 | g.50150193C>T | CA486175009 | SOS2 | c.2199G>A (p.Lys733=) c.2100G>A (p.Lys700=) c.2019G>A (p.Lys673=) c.2160G>A (p.Lys720=) | dbSNP gnomAD v4 |
14 | g.50150194T>A | CA389643985 | SOS2 | c.2198A>T (p.Lys733Met) c.2099A>T (p.Lys700Met) c.2018A>T (p.Lys673Met) c.2159A>T (p.Lys720Met) | |
14 | g.50150194T>C | CA389643984 | SOS2 | c.2198A>G (p.Lys733Arg) c.2099A>G (p.Lys700Arg) c.2018A>G (p.Lys673Arg) c.2159A>G (p.Lys720Arg) | |
14 | g.50150194T>G | CA389643983 | SOS2 | c.2198A>C (p.Lys733Thr) c.2099A>C (p.Lys700Thr) c.2018A>C (p.Lys673Thr) c.2159A>C (p.Lys720Thr) | |
14 | g.50150195del | CA2624771065 | SOS2 | c.2198del (p.Lys733ArgfsTer14) c.2099del (p.Lys700ArgfsTer14) c.2018del (p.Lys673ArgfsTer14) c.2159del (p.Lys720ArgfsTer14) | gnomAD v4 |
14 | g.50150195T>A | CA389643986 | SOS2 | c.2197A>T (p.Lys733Ter) c.2098A>T (p.Lys700Ter) c.2017A>T (p.Lys673Ter) c.2158A>T (p.Lys720Ter) | |
14 | g.50150195T>C | CA389643987 | SOS2 | c.2197A>G (p.Lys733Glu) c.2098A>G (p.Lys700Glu) c.2017A>G (p.Lys673Glu) c.2158A>G (p.Lys720Glu) | |
14 | g.50150195T>G | CA389643988 | SOS2 | c.2197A>C (p.Lys733Gln) c.2098A>C (p.Lys700Gln) c.2017A>C (p.Lys673Gln) c.2158A>C (p.Lys720Gln) | |
14 | g.50150196A= | CA2136039722 | SOS2 | c.2196T= (p.Ala732=) c.2097T= (p.Ala699=) c.2016T= (p.Ala672=) c.2157T= (p.Ala719=) | |
14 | g.50150196A>C | CA486175010 | SOS2 | c.2196T>G (p.Ala732=) c.2097T>G (p.Ala699=) c.2016T>G (p.Ala672=) c.2157T>G (p.Ala719=) | |
14 | g.50150196A>G | CA7177095 | SOS2 | c.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 |
14 | g.50150196A>T | CA486175011 | SOS2 | c.2196T>A (p.Ala732=) c.2097T>A (p.Ala699=) c.2016T>A (p.Ala672=) c.2157T>A (p.Ala719=) | |
14 | g.50150197G>A | CA389643989 | SOS2 | c.2195C>T (p.Ala732Val) c.2096C>T (p.Ala699Val) c.2015C>T (p.Ala672Val) c.2156C>T (p.Ala719Val) | |
14 | g.50150197G>C | CA389643990 | SOS2 | c.2195C>G (p.Ala732Gly) c.2096C>G (p.Ala699Gly) c.2015C>G (p.Ala672Gly) c.2156C>G (p.Ala719Gly) | |
14 | g.50150197G>T | CA389643991 | SOS2 | c.2195C>A (p.Ala732Asp) c.2096C>A (p.Ala699Asp) c.2015C>A (p.Ala672Asp) c.2156C>A (p.Ala719Asp) | |
14 | g.50150198C>A | CA389643992 | SOS2 | c.2194G>T (p.Ala732Ser) c.2095G>T (p.Ala699Ser) c.2014G>T (p.Ala672Ser) c.2155G>T (p.Ala719Ser) | |
14 | g.50150198C= | CA2136039725 | SOS2 | c.2194G= (p.Ala732=) c.2095G= (p.Ala699=) c.2014G= (p.Ala672=) c.2155G= (p.Ala719=) | |
14 | g.50150198C>G | CA389643993 | SOS2 | c.2194G>C (p.Ala732Pro) c.2095G>C (p.Ala699Pro) c.2014G>C (p.Ala672Pro) c.2155G>C (p.Ala719Pro) | |
14 | g.50150198C>T | CA260729950 | SOS2 | c.2194G>A (p.Ala732Thr) c.2095G>A (p.Ala699Thr) c.2014G>A (p.Ala672Thr) c.2155G>A (p.Ala719Thr) | dbSNP |
14 | g.50150199A>C | CA389643994 | SOS2 | c.2193T>G (p.Ile731Met) c.2094T>G (p.Ile698Met) c.2013T>G (p.Ile671Met) c.2154T>G (p.Ile718Met) | ClinVar |
14 | g.50150199A>G | CA486175012 | SOS2 | c.2193T>C (p.Ile731=) c.2094T>C (p.Ile698=) c.2013T>C (p.Ile671=) c.2154T>C (p.Ile718=) | dbSNP |
14 | g.50150199A>T | CA486175013 | SOS2 | c.2193T>A (p.Ile731=) c.2094T>A (p.Ile698=) c.2013T>A (p.Ile671=) c.2154T>A (p.Ile718=) | gnomAD v4 |
14 | g.50150200A= | CA2136039727 | SOS2 | c.2192T= (p.Ile731=) c.2093T= (p.Ile698=) c.2012T= (p.Ile671=) c.2153T= (p.Ile718=) | |
14 | g.50150200A>C | CA389643995 | SOS2 | c.2192T>G (p.Ile731Ser) c.2093T>G (p.Ile698Ser) c.2012T>G (p.Ile671Ser) c.2153T>G (p.Ile718Ser) | |
14 | g.50150200A>G | CA389643996 | SOS2 | c.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 |
14 | g.50150200A>T | CA389643997 | SOS2 | c.2192T>A (p.Ile731Asn) c.2093T>A (p.Ile698Asn) c.2012T>A (p.Ile671Asn) c.2153T>A (p.Ile718Asn) | |
14 | g.50150201T>A | CA389643998 | SOS2 | c.2191A>T (p.Ile731Phe) c.2092A>T (p.Ile698Phe) c.2011A>T (p.Ile671Phe) c.2152A>T (p.Ile718Phe) | |
14 | g.50150201T>C | CA7177096 | SOS2 | c.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 |
14 | g.50150201T>G | CA389643999 | SOS2 | c.2191A>C (p.Ile731Leu) c.2092A>C (p.Ile698Leu) c.2011A>C (p.Ile671Leu) c.2152A>C (p.Ile718Leu) | |
14 | g.50150201T= | CA2136039729 | SOS2 | c.2191A= (p.Ile731=) c.2092A= (p.Ile698=) c.2011A= (p.Ile671=) c.2152A= (p.Ile718=) | |
14 | g.50150202T>A | CA486175014 | SOS2 | c.2190A>T (p.Ser730=) c.2091A>T (p.Ser697=) c.2010A>T (p.Ser670=) c.2151A>T (p.Ser717=) | |
14 | g.50150202T>C | CA486175015 | SOS2 | c.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 |
14 | g.50150202T>G | CA486175016 | SOS2 | c.2190A>C (p.Ser730=) c.2091A>C (p.Ser697=) c.2010A>C (p.Ser670=) c.2151A>C (p.Ser717=) | ClinVar |
14 | g.50150202T= | CA2136039734 | SOS2 | c.2190A= (p.Ser730=) c.2091A= (p.Ser697=) c.2010A= (p.Ser670=) c.2151A= (p.Ser717=) | |
14 | g.50150203G>A | CA7177097 | SOS2 | c.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 |
14 | g.50150203G>C | CA389644000 | SOS2 | c.2189C>G (p.Ser730Ter) c.2090C>G (p.Ser697Ter) c.2009C>G (p.Ser670Ter) c.2150C>G (p.Ser717Ter) | |
14 | g.50150203G= | CA2136039736 | SOS2 | c.2189C= (p.Ser730=) c.2090C= (p.Ser697=) c.2009C= (p.Ser670=) c.2150C= (p.Ser717=) | |
14 | g.50150203G>T | CA389644001 | SOS2 | c.2189C>A (p.Ser730Ter) c.2090C>A (p.Ser697Ter) c.2009C>A (p.Ser670Ter) c.2150C>A (p.Ser717Ter) | |
14 | g.50150204A>C | CA389644002 | SOS2 | c.2188T>G (p.Ser730Ala) c.2089T>G (p.Ser697Ala) c.2008T>G (p.Ser670Ala) c.2149T>G (p.Ser717Ala) | |
14 | g.50150204A>G | CA389644003 | SOS2 | c.2188T>C (p.Ser730Pro) c.2089T>C (p.Ser697Pro) c.2008T>C (p.Ser670Pro) c.2149T>C (p.Ser717Pro) | |
14 | g.50150204A>T | CA389644004 | SOS2 | c.2188T>A (p.Ser730Thr) c.2089T>A (p.Ser697Thr) c.2008T>A (p.Ser670Thr) c.2149T>A (p.Ser717Thr) | |
14 | g.50150205C>A | CA389644005 | SOS2 | c.2187G>T (p.Glu729Asp) c.2088G>T (p.Glu696Asp) c.2007G>T (p.Glu669Asp) c.2148G>T (p.Glu716Asp) | |
14 | g.50150205C>G | CA389644006 | SOS2 | c.2187G>C (p.Glu729Asp) c.2088G>C (p.Glu696Asp) c.2007G>C (p.Glu669Asp) c.2148G>C (p.Glu716Asp) | |
14 | g.50150205C>T | CA486175017 | SOS2 | c.2187G>A (p.Glu729=) c.2088G>A (p.Glu696=) c.2007G>A (p.Glu669=) c.2148G>A (p.Glu716=) | |
14 | g.50150206T>A | CA389644007 | SOS2 | c.2186A>T (p.Glu729Val) c.2087A>T (p.Glu696Val) c.2006A>T (p.Glu669Val) c.2147A>T (p.Glu716Val) | |
14 | g.50150206T>C | CA389644008 | SOS2 | c.2186A>G (p.Glu729Gly) c.2087A>G (p.Glu696Gly) c.2006A>G (p.Glu669Gly) c.2147A>G (p.Glu716Gly) | |
14 | g.50150206T>G | CA389644009 | SOS2 | c.2186A>C (p.Glu729Ala) c.2087A>C (p.Glu696Ala) c.2006A>C (p.Glu669Ala) c.2147A>C (p.Glu716Ala) | |
14 | g.50150207C>A | CA389644010 | SOS2 | c.2185G>T (p.Glu729Ter) c.2086G>T (p.Glu696Ter) c.2005G>T (p.Glu669Ter) c.2146G>T (p.Glu716Ter) | |
14 | g.50150207C>G | CA389644012 | SOS2 | c.2185G>C (p.Glu729Gln) c.2086G>C (p.Glu696Gln) c.2005G>C (p.Glu669Gln) c.2146G>C (p.Glu716Gln) | gnomAD v4 |
14 | g.50150207C>T | CA389644011 | SOS2 | c.2185G>A (p.Glu729Lys) c.2086G>A (p.Glu696Lys) c.2005G>A (p.Glu669Lys) c.2146G>A (p.Glu716Lys) | |
14 | g.50150208T>A | CA486175018 | SOS2 | c.2184A>T (p.Val728=) c.2085A>T (p.Val695=) c.2004A>T (p.Val668=) c.2145A>T (p.Val715=) | |
14 | g.50150208T>C | CA486175019 | SOS2 | c.2184A>G (p.Val728=) c.2085A>G (p.Val695=) c.2004A>G (p.Val668=) c.2145A>G (p.Val715=) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.50150208T>G | CA7177098 | SOS2 | c.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 |
14 | g.50150208T= | CA2136039738 | SOS2 | c.2184A= (p.Val728=) c.2085A= (p.Val695=) c.2004A= (p.Val668=) c.2145A= (p.Val715=) | |
14 | g.50150209A>C | CA389644013 | SOS2 | c.2183T>G (p.Val728Gly) c.2084T>G (p.Val695Gly) c.2003T>G (p.Val668Gly) c.2144T>G (p.Val715Gly) | |
14 | g.50150209A>G | CA389644014 | SOS2 | c.2183T>C (p.Val728Ala) c.2084T>C (p.Val695Ala) c.2003T>C (p.Val668Ala) c.2144T>C (p.Val715Ala) | |
14 | g.50150209A>T | CA389644015 | SOS2 | c.2183T>A (p.Val728Glu) c.2084T>A (p.Val695Glu) c.2003T>A (p.Val668Glu) c.2144T>A (p.Val715Glu) | |
14 | g.50150210C>A | CA389644016 | SOS2 | c.2182G>T (p.Val728Leu) c.2083G>T (p.Val695Leu) c.2002G>T (p.Val668Leu) c.2143G>T (p.Val715Leu) | |
14 | g.50150210C>G | CA389644017 | SOS2 | c.2182G>C (p.Val728Leu) c.2083G>C (p.Val695Leu) c.2002G>C (p.Val668Leu) c.2143G>C (p.Val715Leu) | |
14 | g.50150210C>T | CA389644018 | SOS2 | c.2182G>A (p.Val728Ile) c.2083G>A (p.Val695Ile) c.2002G>A (p.Val668Ile) c.2143G>A (p.Val715Ile) | ClinVar dbSNP gnomAD v4 |
14 | g.50150211C>A | CA389644019 | SOS2 | c.2181G>T (p.Trp727Cys) c.2082G>T (p.Trp694Cys) c.2001G>T (p.Trp667Cys) c.2142G>T (p.Trp714Cys) | |
14 | g.50150211C>G | CA389644020 | SOS2 | c.2181G>C (p.Trp727Cys) c.2082G>C (p.Trp694Cys) c.2001G>C (p.Trp667Cys) c.2142G>C (p.Trp714Cys) | |
14 | g.50150211C>T | CA389644021 | SOS2 | c.2181G>A (p.Trp727Ter) c.2082G>A (p.Trp694Ter) c.2001G>A (p.Trp667Ter) c.2142G>A (p.Trp714Ter) | |
14 | g.50150212C>A | CA389644022 | SOS2 | c.2180G>T (p.Trp727Leu) c.2081G>T (p.Trp694Leu) c.2000G>T (p.Trp667Leu) c.2141G>T (p.Trp714Leu) | ClinVar gnomAD v4 |
14 | g.50150212C>G | CA389644023 | SOS2 | c.2180G>C (p.Trp727Ser) c.2081G>C (p.Trp694Ser) c.2000G>C (p.Trp667Ser) c.2141G>C (p.Trp714Ser) | |
14 | g.50150212C>T | CA389644024 | SOS2 | c.2180G>A (p.Trp727Ter) c.2081G>A (p.Trp694Ter) c.2000G>A (p.Trp667Ter) c.2141G>A (p.Trp714Ter) | |
14 | g.50150213A>C | CA389644027 | SOS2 | c.2179T>G (p.Trp727Gly) c.2080T>G (p.Trp694Gly) c.1999T>G (p.Trp667Gly) c.2140T>G (p.Trp714Gly) | |
14 | g.50150213A>G | CA389644026 | SOS2 | c.2179T>C (p.Trp727Arg) c.2080T>C (p.Trp694Arg) c.1999T>C (p.Trp667Arg) c.2140T>C (p.Trp714Arg) | |
14 | g.50150213A>T | CA389644025 | SOS2 | c.2179T>A (p.Trp727Arg) c.2080T>A (p.Trp694Arg) c.1999T>A (p.Trp667Arg) c.2140T>A (p.Trp714Arg) | |
14 | g.50150214T>A | CA389644028 | SOS2 | c.2178A>T (p.Lys726Asn) c.2079A>T (p.Lys693Asn) c.1998A>T (p.Lys666Asn) c.2139A>T (p.Lys713Asn) | gnomAD v4 |
14 | g.50150214T>C | CA486175020 | SOS2 | c.2178A>G (p.Lys726=) c.2079A>G (p.Lys693=) c.1998A>G (p.Lys666=) c.2139A>G (p.Lys713=) | |
14 | g.50150214T>G | CA389644029 | SOS2 | c.2178A>C (p.Lys726Asn) c.2079A>C (p.Lys693Asn) c.1998A>C (p.Lys666Asn) c.2139A>C (p.Lys713Asn) | |
14 | g.50150219dup | CA2624771066 | SOS2 | c.2178dup (p.Trp727MetfsTer7) c.2079dup (p.Trp694MetfsTer7) c.1998dup (p.Trp667MetfsTer7) c.2139dup (p.Trp714MetfsTer7) | gnomAD v4 |
14 | g.50150219del | CA2624771067 | SOS2 | c.2178del (p.Lys726AsnfsTer3) c.2079del (p.Lys693AsnfsTer3) c.1998del (p.Lys666AsnfsTer3) c.2139del (p.Lys713AsnfsTer3) | gnomAD v4 |
14 | g.50150215T>A | CA389644030 | SOS2 | c.2177A>T (p.Lys726Ile) c.2078A>T (p.Lys693Ile) c.1997A>T (p.Lys666Ile) c.2138A>T (p.Lys713Ile) | |
14 | g.50150215T>C | CA389644031 | SOS2 | c.2177A>G (p.Lys726Arg) c.2078A>G (p.Lys693Arg) c.1997A>G (p.Lys666Arg) c.2138A>G (p.Lys713Arg) | |
14 | g.50150215T>G | CA389644032 | SOS2 | c.2177A>C (p.Lys726Thr) c.2078A>C (p.Lys693Thr) c.1997A>C (p.Lys666Thr) c.2138A>C (p.Lys713Thr) | |
14 | g.50150216T>A | CA389644033 | SOS2 | c.2176A>T (p.Lys726Ter) c.2077A>T (p.Lys693Ter) c.1996A>T (p.Lys666Ter) c.2137A>T (p.Lys713Ter) | |
14 | g.50150216T>C | CA389644034 | SOS2 | c.2176A>G (p.Lys726Glu) c.2077A>G (p.Lys693Glu) c.1996A>G (p.Lys666Glu) c.2137A>G (p.Lys713Glu) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50150216T>G | CA389644035 | SOS2 | c.2176A>C (p.Lys726Gln) c.2077A>C (p.Lys693Gln) c.1996A>C (p.Lys666Gln) c.2137A>C (p.Lys713Gln) | |
14 | g.50150216T= | CA2136039741 | SOS2 | c.2176A= (p.Lys726=) c.2077A= (p.Lys693=) c.1996A= (p.Lys666=) c.2137A= (p.Lys713=) | |
14 | g.50150217T>A | CA389644036 | SOS2 | c.2175A>T (p.Lys725Asn) c.2076A>T (p.Lys692Asn) c.1995A>T (p.Lys665Asn) c.2136A>T (p.Lys712Asn) | |
14 | g.50150217T>C | CA486175021 | SOS2 | c.2175A>G (p.Lys725=) c.2076A>G (p.Lys692=) c.1995A>G (p.Lys665=) c.2136A>G (p.Lys712=) | |
14 | g.50150217T>G | CA389644037 | SOS2 | c.2175A>C (p.Lys725Asn) c.2076A>C (p.Lys692Asn) c.1995A>C (p.Lys665Asn) c.2136A>C (p.Lys712Asn) | |
14 | g.50150218T>A | CA389644038 | SOS2 | c.2174A>T (p.Lys725Ile) c.2075A>T (p.Lys692Ile) c.1994A>T (p.Lys665Ile) c.2135A>T (p.Lys712Ile) | |
14 | g.50150218T>C | CA389644039 | SOS2 | c.2174A>G (p.Lys725Arg) c.2075A>G (p.Lys692Arg) c.1994A>G (p.Lys665Arg) c.2135A>G (p.Lys712Arg) | |
14 | g.50150218T>G | CA389644040 | SOS2 | c.2174A>C (p.Lys725Thr) c.2075A>C (p.Lys692Thr) c.1994A>C (p.Lys665Thr) c.2135A>C (p.Lys712Thr) | |
14 | g.50150219T>A | CA389644042 | SOS2 | c.2173A>T (p.Lys725Ter) c.2074A>T (p.Lys692Ter) c.1993A>T (p.Lys665Ter) c.2134A>T (p.Lys712Ter) | |
14 | g.50150219T>C | CA389644043 | SOS2 | c.2173A>G (p.Lys725Glu) c.2074A>G (p.Lys692Glu) c.1993A>G (p.Lys665Glu) c.2134A>G (p.Lys712Glu) | |
14 | g.50150219T>G | CA389644041 | SOS2 | c.2173A>C (p.Lys725Gln) c.2074A>C (p.Lys692Gln) c.1993A>C (p.Lys665Gln) c.2134A>C (p.Lys712Gln) | |
14 | g.50150220C>A | CA389644044 | SOS2 | c.2172G>T (p.Met724Ile) c.2073G>T (p.Met691Ile) c.1992G>T (p.Met664Ile) c.2133G>T (p.Met711Ile) | |
14 | g.50150220C= | CA2136039745 | SOS2 | c.2172G= (p.Met724=) c.2073G= (p.Met691=) c.1992G= (p.Met664=) c.2133G= (p.Met711=) | |
14 | g.50150220C>G | CA389644045 | SOS2 | c.2172G>C (p.Met724Ile) c.2073G>C (p.Met691Ile) c.1992G>C (p.Met664Ile) c.2133G>C (p.Met711Ile) | dbSNP |
14 | g.50150220C>T | CA7177099 | SOS2 | c.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 |
14 | g.50150221A>C | CA389644046 | SOS2 | c.2171T>G (p.Met724Arg) c.2072T>G (p.Met691Arg) c.1991T>G (p.Met664Arg) c.2132T>G (p.Met711Arg) | |
14 | g.50150221A>G | CA389644047 | SOS2 | c.2171T>C (p.Met724Thr) c.2072T>C (p.Met691Thr) c.1991T>C (p.Met664Thr) c.2132T>C (p.Met711Thr) | |
14 | g.50150221A>T | CA389644048 | SOS2 | c.2171T>A (p.Met724Lys) c.2072T>A (p.Met691Lys) c.1991T>A (p.Met664Lys) c.2132T>A (p.Met711Lys) | |
14 | g.50150222T>A | CA389644049 | SOS2 | c.2170A>T (p.Met724Leu) c.2071A>T (p.Met691Leu) c.1990A>T (p.Met664Leu) c.2131A>T (p.Met711Leu) | gnomAD v4 |
14 | g.50150222T>C | CA389644050 | SOS2 | c.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 |
14 | g.50150222T>G | CA389644051 | SOS2 | c.2170A>C (p.Met724Leu) c.2071A>C (p.Met691Leu) c.1990A>C (p.Met664Leu) c.2131A>C (p.Met711Leu) | |
14 | g.50150222T= | CA2136039748 | SOS2 | c.2170A= (p.Met724=) c.2071A= (p.Met691=) c.1990A= (p.Met664=) c.2131A= (p.Met711=) | |
14 | g.50150223A>C | CA486175022 | SOS2 | c.2169T>G (p.Ala723=) c.2070T>G (p.Ala690=) c.1989T>G (p.Ala663=) c.2130T>G (p.Ala710=) | |
14 | g.50150223A>G | CA486175023 | SOS2 | c.2169T>C (p.Ala723=) c.2070T>C (p.Ala690=) c.1989T>C (p.Ala663=) c.2130T>C (p.Ala710=) | |
14 | g.50150223A>T | CA486175024 | SOS2 | c.2169T>A (p.Ala723=) c.2070T>A (p.Ala690=) c.1989T>A (p.Ala663=) c.2130T>A (p.Ala710=) | gnomAD v4 |
14 | g.50150224G>A | CA389644052 | SOS2 | c.2168C>T (p.Ala723Val) c.2069C>T (p.Ala690Val) c.1988C>T (p.Ala663Val) c.2129C>T (p.Ala710Val) | ClinVar dbSNP gnomAD v4 |
14 | g.50150224G>C | CA389644053 | SOS2 | c.2168C>G (p.Ala723Gly) c.2069C>G (p.Ala690Gly) c.1988C>G (p.Ala663Gly) c.2129C>G (p.Ala710Gly) | |
14 | g.50150224G= | CA2136039751 | SOS2 | c.2168C= (p.Ala723=) c.2069C= (p.Ala690=) c.1988C= (p.Ala663=) c.2129C= (p.Ala710=) | |
14 | g.50150224G>T | CA389644054 | SOS2 | c.2168C>A (p.Ala723Asp) c.2069C>A (p.Ala690Asp) c.1988C>A (p.Ala663Asp) c.2129C>A (p.Ala710Asp) | gnomAD v4 |
14 | g.50150225C>A | CA389644057 | SOS2 | c.2167G>T (p.Ala723Ser) c.2068G>T (p.Ala690Ser) c.1987G>T (p.Ala663Ser) c.2128G>T (p.Ala710Ser) | |
14 | g.50150225C>G | CA389644055 | SOS2 | c.2167G>C (p.Ala723Pro) c.2068G>C (p.Ala690Pro) c.1987G>C (p.Ala663Pro) c.2128G>C (p.Ala710Pro) | |
14 | g.50150225C>T | CA389644056 | SOS2 | c.2167G>A (p.Ala723Thr) c.2068G>A (p.Ala690Thr) c.1987G>A (p.Ala663Thr) c.2128G>A (p.Ala710Thr) | gnomAD v4 |
14 | g.50150226T>A | CA7177100 | SOS2 | c.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 |
14 | g.50150226T>C | CA486175025 | SOS2 | c.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 |
14 | g.50150226T>G | CA389644058 | SOS2 | c.2166A>C (p.Lys722Asn) c.2067A>C (p.Lys689Asn) c.1986A>C (p.Lys662Asn) c.2127A>C (p.Lys709Asn) | |
14 | g.50150226T= | CA2136039754 | SOS2 | c.2166A= (p.Lys722=) c.2067A= (p.Lys689=) c.1986A= (p.Lys662=) c.2127A= (p.Lys709=) | |
14 | g.50150228del | CA2624771068 | SOS2 | c.2166del (p.Ala723LeufsTer2) c.2067del (p.Ala690LeufsTer2) c.1986del (p.Ala663LeufsTer2) c.2127del (p.Ala710LeufsTer2) | gnomAD v4 |
14 | g.50150227T>A | CA389644059 | SOS2 | c.2165A>T (p.Lys722Ile) c.2066A>T (p.Lys689Ile) c.1985A>T (p.Lys662Ile) c.2126A>T (p.Lys709Ile) | |
14 | g.50150227T>C | CA389644060 | SOS2 | c.2165A>G (p.Lys722Arg) c.2066A>G (p.Lys689Arg) c.1985A>G (p.Lys662Arg) c.2126A>G (p.Lys709Arg) | |
14 | g.50150227T>G | CA389644061 | SOS2 | c.2165A>C (p.Lys722Thr) c.2066A>C (p.Lys689Thr) c.1985A>C (p.Lys662Thr) c.2126A>C (p.Lys709Thr) | |
14 | g.50150228T>A | CA389644062 | SOS2 | c.2164A>T (p.Lys722Ter) c.2065A>T (p.Lys689Ter) c.1984A>T (p.Lys662Ter) c.2125A>T (p.Lys709Ter) | gnomAD v4 |
14 | g.50150228T>C | CA389644063 | SOS2 | c.2164A>G (p.Lys722Glu) c.2065A>G (p.Lys689Glu) c.1984A>G (p.Lys662Glu) c.2125A>G (p.Lys709Glu) | gnomAD v4 |
14 | g.50150228T>G | CA389644064 | SOS2 | c.2164A>C (p.Lys722Gln) c.2065A>C (p.Lys689Gln) c.1984A>C (p.Lys662Gln) c.2125A>C (p.Lys709Gln) | gnomAD v4 |
14 | g.50150229C>A | CA486175026 | SOS2 | c.2163G>T (p.Gly721=) c.2064G>T (p.Gly688=) c.1983G>T (p.Gly661=) c.2124G>T (p.Gly708=) | |
14 | g.50150229C>G | CA486175027 | SOS2 | c.2163G>C (p.Gly721=) c.2064G>C (p.Gly688=) c.1983G>C (p.Gly661=) c.2124G>C (p.Gly708=) | |
14 | g.50150229C>T | CA486175028 | SOS2 | c.2163G>A (p.Gly721=) c.2064G>A (p.Gly688=) c.1983G>A (p.Gly661=) c.2124G>A (p.Gly708=) | gnomAD v4 |
14 | g.50150230C>A | CA389644065 | SOS2 | c.2162G>T (p.Gly721Val) c.2063G>T (p.Gly688Val) c.1982G>T (p.Gly661Val) c.2123G>T (p.Gly708Val) | |
14 | g.50150230C= | CA2136039757 | SOS2 | c.2162G= (p.Gly721=) c.2063G= (p.Gly688=) c.1982G= (p.Gly661=) c.2123G= (p.Gly708=) | |
14 | g.50150230C>G | CA389644066 | SOS2 | c.2162G>C (p.Gly721Ala) c.2063G>C (p.Gly688Ala) c.1982G>C (p.Gly661Ala) c.2123G>C (p.Gly708Ala) | |
14 | g.50150230C>T | CA389644067 | SOS2 | c.2162G>A (p.Gly721Glu) c.2063G>A (p.Gly688Glu) c.1982G>A (p.Gly661Glu) c.2123G>A (p.Gly708Glu) | dbSNP |
14 | g.50150231C>A | CA389644069 | SOS2 | c.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) | |
14 | g.50150231C>G | CA389644070 | SOS2 | c.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) | |
14 | g.50150231C>T | CA389644068 | SOS2 | c.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) | |
14 | g.50150232T>A | CA389644072 | SOS2 | c.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 |
14 | g.50150232T>C | CA389644071 | SOS2 | c.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 |
14 | g.50150232T>G | CA389644073 | SOS2 | c.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) | |
14 | g.50150233G>T | CA2624771069 | SOS2 | c.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 |
14 | g.50150234G= | CA2136039764 | SOS2 | c.2162-4C= (n.2162-4C=) c.2063-4C= (n.2063-4C=) c.1982-4C= (n.1982-4C=) c.2123-4C= (n.2123-4C=) | |
14 | g.50150234G>T | CA7177101 | SOS2 | c.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 |
14 | g.50150235A>G | CA2624771070 | SOS2 | c.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 |
14 | g.50150239del | CA2624771071 | SOS2 | c.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 |
14 | g.50150236A= | CA2136039767 | SOS2 | c.2162-6T= (n.2162-6T=) c.2063-6T= (n.2063-6T=) c.1982-6T= (n.1982-6T=) c.2123-6T= (n.2123-6T=) | |
14 | g.50150236A>G | CA2136039769 | SOS2 | c.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 |
14 | g.50150236A>T | CA2739279492 | SOS2 | c.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 |
14 | g.50150237A= | CA2136039772 | SOS2 | c.2162-7T= (n.2162-7T=) c.2063-7T= (n.2063-7T=) c.1982-7T= (n.1982-7T=) c.2123-7T= (n.2123-7T=) | |
14 | g.50150237A>T | CA614274479 | SOS2 | c.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 |
14 | g.50150239A= | CA2136039777 | SOS2 | c.2162-9T= (n.2162-9T=) c.2063-9T= (n.2063-9T=) c.1982-9T= (n.1982-9T=) c.2123-9T= (n.2123-9T=) | |
14 | g.50150239A>C | CA614274480 | SOS2 | c.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 |
14 | g.50150239A>G | CA614274481 | SOS2 | c.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 |
14 | g.50150240G>A | CA7177102 | SOS2 | c.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 |
14 | g.50150240G>C | CA2136039787 | SOS2 | c.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 |
14 | g.50150240G= | CA2136039785 | SOS2 | c.2162-10C= (n.2162-10C=) c.2063-10C= (n.2063-10C=) c.1982-10C= (n.1982-10C=) c.2123-10C= (n.2123-10C=) | |
14 | g.50150240G>T | CA614274482 | SOS2 | c.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 |
14 | g.50150241A= | CA2136039790 | SOS2 | c.2162-11T= (n.2162-11T=) c.2063-11T= (n.2063-11T=) c.1982-11T= (n.1982-11T=) c.2123-11T= (n.2123-11T=) | |
14 | g.50150241A>G | CA7177103 | SOS2 | c.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 |
14 | g.50150242A= | CA2136039793 | SOS2 | c.2162-12T= (n.2162-12T=) c.2063-12T= (n.2063-12T=) c.1982-12T= (n.1982-12T=) c.2123-12T= (n.2123-12T=) | |
14 | g.50150242A>G | CA7177104 | SOS2 | c.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 |
14 | g.50150245_50150246dup | CA2575520421 | SOS2 | c.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 |
14 | g.50150243C>A | CA614274483 | SOS2 | c.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 |
14 | g.50150243C= | CA2136039798 | SOS2 | c.2162-13G= (n.2162-13G=) c.2063-13G= (n.2063-13G=) c.1982-13G= (n.1982-13G=) c.2123-13G= (n.2123-13G=) | |
14 | g.50150243C>G | CA614274484 | SOS2 | c.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 |
14 | g.50150243C>T | CA7177105 | SOS2 | c.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 |
14 | g.50150244A= | CA2136039800 | SOS2 | c.2162-14T= (n.2162-14T=) c.2063-14T= (n.2063-14T=) c.1982-14T= (n.1982-14T=) c.2123-14T= (n.2123-14T=) | |
14 | g.50150244A>G | CA2136039801 | SOS2 | c.2162-14T>C (n.2162-14T>C) c.2063-14T>C (n.2063-14T>C) c.1982-14T>C (n.1982-14T>C) c.2123-14T>C (n.2123-14T>C) | dbSNP |
14 | g.50150245C>A | CA2624771072 | SOS2 | c.2162-15G>T (n.2162-15G>T) c.2063-15G>T (n.2063-15G>T) c.1982-15G>T (n.1982-15G>T) c.2123-15G>T (n.2123-15G>T) | gnomAD v4 |
14 | g.50150245C= | CA2136039803 | SOS2 | c.2162-15G= (n.2162-15G=) c.2063-15G= (n.2063-15G=) c.1982-15G= (n.1982-15G=) c.2123-15G= (n.2123-15G=) | |
14 | g.50150245C>T | CA7177106 | SOS2 | c.2162-15G>A (n.2162-15G>A) c.2063-15G>A (n.2063-15G>A) c.1982-15G>A (n.1982-15G>A) c.2123-15G>A (n.2123-15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50150245_50150247delinsCAT | CA2136039805 | SOS2 | c.2162-17_2162-15delinsATG (n.2162-17_2162-15delinsATG) c.2063-17_2063-15delinsATG (n.2063-17_2063-15delinsATG) c.1982-17_1982-15delinsATG (n.1982-17_1982-15delinsATG) c.2123-17_2123-15delinsATG (n.2123-17_2123-15delinsATG) | |
14 | g.50150246A= | CA2136039808 | SOS2 | c.2162-16T= (n.2162-16T=) c.2063-16T= (n.2063-16T=) c.1982-16T= (n.1982-16T=) c.2123-16T= (n.2123-16T=) | |
14 | g.50150246A>G | CA7177107 | SOS2 | c.2162-16T>C (n.2162-16T>C) c.2063-16T>C (n.2063-16T>C) c.1982-16T>C (n.1982-16T>C) c.2123-16T>C (n.2123-16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.50150247_50150248del | CA706556879 | SOS2 | c.2162-17_2162-16del (n.2162-17_2162-16del) c.2063-17_2063-16del (n.2063-17_2063-16del) c.1982-17_1982-16del (n.1982-17_1982-16del) c.2123-17_2123-16del (n.2123-17_2123-16del) | dbSNP |
14 | g.50150247T>A | CA2575520422 | SOS2 | c.2162-17A>T (n.2162-17A>T) c.2063-17A>T (n.2063-17A>T) c.1982-17A>T (n.1982-17A>T) c.2123-17A>T (n.2123-17A>T) | gnomAD v4 |
14 | g.50150248A= | CA2136039810 | SOS2 | c.2162-18T= (n.2162-18T=) c.2063-18T= (n.2063-18T=) c.1982-18T= (n.1982-18T=) c.2123-18T= (n.2123-18T=) | |
14 | g.50150248A>G | CA7177108 | SOS2 | c.2162-18T>C (n.2162-18T>C) c.2063-18T>C (n.2063-18T>C) c.1982-18T>C (n.1982-18T>C) c.2123-18T>C (n.2123-18T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.50150251G>A | CA2624771073 | SOS2 | c.2162-21C>T (n.2162-21C>T) c.2063-21C>T (n.2063-21C>T) c.1982-21C>T (n.1982-21C>T) c.2123-21C>T (n.2123-21C>T) | gnomAD v4 |
14 | g.50150251G>T | CA2624771074 | SOS2 | c.2162-21C>A (n.2162-21C>A) c.2063-21C>A (n.2063-21C>A) c.1982-21C>A (n.1982-21C>A) c.2123-21C>A (n.2123-21C>A) | gnomAD v4 |
14 | g.50150253A>G | CA2624771075 | SOS2 | c.2162-23T>C (n.2162-23T>C) c.2063-23T>C (n.2063-23T>C) c.1982-23T>C (n.1982-23T>C) c.2123-23T>C (n.2123-23T>C) | gnomAD v4 |
14 | g.50150254A>T | CA2624771076 | SOS2 | c.2162-24T>A (n.2162-24T>A) c.2063-24T>A (n.2063-24T>A) c.1982-24T>A (n.1982-24T>A) c.2123-24T>A (n.2123-24T>A) | gnomAD v4 |
14 | g.50150256A= | CA2136039813 | SOS2 | c.2162-26T= (n.2162-26T=) c.2063-26T= (n.2063-26T=) c.1982-26T= (n.1982-26T=) c.2123-26T= (n.2123-26T=) | |
14 | g.50150256A>T | CA260729982 | SOS2 | c.2162-26T>A (n.2162-26T>A) c.2063-26T>A (n.2063-26T>A) c.1982-26T>A (n.1982-26T>A) c.2123-26T>A (n.2123-26T>A) | dbSNP gnomAD v4 |
14 | g.50150257T>C | CA614274485 | SOS2 | c.2162-27A>G (n.2162-27A>G) c.2063-27A>G (n.2063-27A>G) c.1982-27A>G (n.1982-27A>G) c.2123-27A>G (n.2123-27A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.50150257T= | CA2136039816 | SOS2 | c.2162-27A= (n.2162-27A=) c.2063-27A= (n.2063-27A=) c.1982-27A= (n.1982-27A=) c.2123-27A= (n.2123-27A=) |