Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.52402352A>C | CA353094242 | BAP1 | c.2126T>G (p.Leu709Arg) c.2072T>G (p.Leu691Arg) n.799T>G c.325T>G c.698T>G (p.Leu233Arg) c.2195T>G (p.Leu732Arg) c.2150T>G (p.Leu717Arg) c.2141T>G (p.Leu714Arg) c.2081T>G (p.Leu694Arg) | |
3 | g.52402352A>G | CA353094238 | BAP1 | c.2126T>C (p.Leu709Pro) c.2072T>C (p.Leu691Pro) n.799T>C c.325T>C c.698T>C (p.Leu233Pro) c.2195T>C (p.Leu732Pro) c.2150T>C (p.Leu717Pro) c.2141T>C (p.Leu714Pro) c.2081T>C (p.Leu694Pro) | dbSNP gnomAD v4 |
3 | g.52402352A>T | CA353094240 | BAP1 | c.2126T>A (p.Leu709His) c.2072T>A (p.Leu691His) n.799T>A c.325T>A c.698T>A (p.Leu233His) c.2195T>A (p.Leu732His) c.2150T>A (p.Leu717His) c.2141T>A (p.Leu714His) c.2081T>A (p.Leu694His) | gnomAD v4 |
3 | g.52402353G>A | CA353094245 | BAP1 | c.2125C>T (p.Leu709Phe) c.2071C>T (p.Leu691Phe) n.798C>T c.324C>T c.697C>T (p.Leu233Phe) c.2194C>T (p.Leu732Phe) c.2149C>T (p.Leu717Phe) c.2140C>T (p.Leu714Phe) c.2080C>T (p.Leu694Phe) | dbSNP gnomAD v4 |
3 | g.52402353G>C | CA353094247 | BAP1 | c.2125C>G (p.Leu709Val) c.2071C>G (p.Leu691Val) n.798C>G c.324C>G c.697C>G (p.Leu233Val) c.2194C>G (p.Leu732Val) c.2149C>G (p.Leu717Val) c.2140C>G (p.Leu714Val) c.2080C>G (p.Leu694Val) | |
3 | g.52402353G>T | CA353094248 | BAP1 | c.2125C>A (p.Leu709Ile) c.2071C>A (p.Leu691Ile) n.798C>A c.324C>A c.697C>A (p.Leu233Ile) c.2194C>A (p.Leu732Ile) c.2149C>A (p.Leu717Ile) c.2140C>A (p.Leu714Ile) c.2080C>A (p.Leu694Ile) | gnomAD v4 |
3 | g.52402353_52402354delinsGC | CA1364834510 | BAP1 | c.2124_2125delinsGC (p.Arg708=) c.2070_2071delinsGC (p.Arg690=) n.797_798delinsGC c.323_324delinsGC c.696_697delinsGC (p.Arg232=) c.2193_2194delinsGC (p.Arg731=) c.2148_2149delinsGC (p.Arg716=) c.2139_2140delinsGC (p.Arg713=) c.2079_2080delinsGC (p.Arg693=) | |
3 | g.52402353_52402354delinsTA | CA1364834512 | BAP1 | c.2124_2125delinsTA (p.Leu709Ile) c.2070_2071delinsTA (p.Leu691Ile) n.797_798delinsTA c.323_324delinsTA c.696_697delinsTA (p.Leu233Ile) c.2193_2194delinsTA (p.Leu732Ile) c.2148_2149delinsTA (p.Leu717Ile) c.2139_2140delinsTA (p.Leu714Ile) c.2079_2080delinsTA (p.Leu694Ile) | ClinVar dbSNP |
3 | g.52402354C>A | CA433885924 | BAP1 | c.2124G>T (p.Arg708=) c.2070G>T (p.Arg690=) n.797G>T c.323G>T c.696G>T (p.Arg232=) c.2193G>T (p.Arg731=) c.2148G>T (p.Arg716=) c.2139G>T (p.Arg713=) c.2079G>T (p.Arg693=) | ClinVar gnomAD v4 |
3 | g.52402354C= | CA1364834514 | BAP1 | c.2124G= (p.Arg708=) c.2070G= (p.Arg690=) n.797G= c.323G= c.696G= (p.Arg232=) c.2193G= (p.Arg731=) c.2148G= (p.Arg716=) c.2139G= (p.Arg713=) c.2079G= (p.Arg693=) | |
3 | g.52402354C>G | CA433885927 | BAP1 | c.2124G>C (p.Arg708=) c.2070G>C (p.Arg690=) n.797G>C c.323G>C c.696G>C (p.Arg232=) c.2193G>C (p.Arg731=) c.2148G>C (p.Arg716=) c.2139G>C (p.Arg713=) c.2079G>C (p.Arg693=) | ClinVar |
3 | g.52402354C>T | CA433885925 | BAP1 | c.2124G>A (p.Arg708=) c.2070G>A (p.Arg690=) n.797G>A c.323G>A c.696G>A (p.Arg232=) c.2193G>A (p.Arg731=) c.2148G>A (p.Arg716=) c.2139G>A (p.Arg713=) c.2079G>A (p.Arg693=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402355C>A | CA353094252 | BAP1 | c.2123G>T (p.Arg708Leu) c.2069G>T (p.Arg690Leu) n.796G>T c.322G>T c.695G>T (p.Arg232Leu) c.2192G>T (p.Arg731Leu) c.2147G>T (p.Arg716Leu) c.2138G>T (p.Arg713Leu) c.2078G>T (p.Arg693Leu) | |
3 | g.52402355C= | CA1364834518 | BAP1 | c.2123G= (p.Arg708=) c.2069G= (p.Arg690=) n.796G= c.322G= c.695G= (p.Arg232=) c.2192G= (p.Arg731=) c.2147G= (p.Arg716=) c.2138G= (p.Arg713=) c.2078G= (p.Arg693=) | |
3 | g.52402355C>G | CA353094253 | BAP1 | c.2123G>C (p.Arg708Pro) c.2069G>C (p.Arg690Pro) n.796G>C c.322G>C c.695G>C (p.Arg232Pro) c.2192G>C (p.Arg731Pro) c.2147G>C (p.Arg716Pro) c.2138G>C (p.Arg713Pro) c.2078G>C (p.Arg693Pro) | |
3 | g.52402355C>T | CA353094254 | BAP1 | c.2123G>A (p.Arg708Gln) c.2069G>A (p.Arg690Gln) n.796G>A c.322G>A c.695G>A (p.Arg232Gln) c.2192G>A (p.Arg731Gln) c.2147G>A (p.Arg716Gln) c.2138G>A (p.Arg713Gln) c.2078G>A (p.Arg693Gln) | ClinVar dbSNP gnomAD v4 |
3 | g.52402356G>A | CA353094255 | BAP1 | c.2122C>T (p.Arg708Trp) c.2068C>T (p.Arg690Trp) n.795C>T c.321C>T c.694C>T (p.Arg232Trp) c.2191C>T (p.Arg731Trp) c.2146C>T (p.Arg716Trp) c.2137C>T (p.Arg713Trp) c.2077C>T (p.Arg693Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402356G>C | CA353094256 | BAP1 | c.2122C>G (p.Arg708Gly) c.2068C>G (p.Arg690Gly) n.795C>G c.321C>G c.694C>G (p.Arg232Gly) c.2191C>G (p.Arg731Gly) c.2146C>G (p.Arg716Gly) c.2137C>G (p.Arg713Gly) c.2077C>G (p.Arg693Gly) | |
3 | g.52402356G= | CA1364834520 | BAP1 | c.2122C= (p.Arg708=) c.2068C= (p.Arg690=) n.795C= c.321C= c.694C= (p.Arg232=) c.2191C= (p.Arg731=) c.2146C= (p.Arg716=) c.2137C= (p.Arg713=) c.2077C= (p.Arg693=) | |
3 | g.52402356G>T | CA433885936 | BAP1 | c.2122C>A (p.Arg708=) c.2068C>A (p.Arg690=) n.795C>A c.321C>A c.694C>A (p.Arg232=) c.2191C>A (p.Arg731=) c.2146C>A (p.Arg716=) c.2137C>A (p.Arg713=) c.2077C>A (p.Arg693=) | gnomAD v4 |
3 | g.52402357G>A | CA2436586 | BAP1 | c.2121C>T (p.Gly707=) c.2067C>T (p.Gly689=) n.794C>T c.320C>T c.693C>T (p.Gly231=) c.2190C>T (p.Gly730=) c.2145C>T (p.Gly715=) c.2136C>T (p.Gly712=) c.2076C>T (p.Gly692=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52402357G>C | CA433885940 | BAP1 | c.2121C>G (p.Gly707=) c.2067C>G (p.Gly689=) n.794C>G c.320C>G c.693C>G (p.Gly231=) c.2190C>G (p.Gly730=) c.2145C>G (p.Gly715=) c.2136C>G (p.Gly712=) c.2076C>G (p.Gly692=) | dbSNP |
3 | g.52402357G= | CA1364834523 | BAP1 | c.2121C= (p.Gly707=) c.2067C= (p.Gly689=) n.794C= c.320C= c.693C= (p.Gly231=) c.2190C= (p.Gly730=) c.2145C= (p.Gly715=) c.2136C= (p.Gly712=) c.2076C= (p.Gly692=) | |
3 | g.52402357G>T | CA433885942 | BAP1 | c.2121C>A (p.Gly707=) c.2067C>A (p.Gly689=) n.794C>A c.320C>A c.693C>A (p.Gly231=) c.2190C>A (p.Gly730=) c.2145C>A (p.Gly715=) c.2136C>A (p.Gly712=) c.2076C>A (p.Gly692=) | gnomAD v4 |
3 | g.52402358C>A | CA353094258 | BAP1 | c.2120G>T (p.Gly707Val) c.2066G>T (p.Gly689Val) n.793G>T c.319G>T c.692G>T (p.Gly231Val) c.2189G>T (p.Gly730Val) c.2144G>T (p.Gly715Val) c.2135G>T (p.Gly712Val) c.2075G>T (p.Gly692Val) | dbSNP gnomAD v4 |
3 | g.52402358C>G | CA353094262 | BAP1 | c.2120G>C (p.Gly707Ala) c.2066G>C (p.Gly689Ala) n.793G>C c.319G>C c.692G>C (p.Gly231Ala) c.2189G>C (p.Gly730Ala) c.2144G>C (p.Gly715Ala) c.2135G>C (p.Gly712Ala) c.2075G>C (p.Gly692Ala) | |
3 | g.52402358C>T | CA353094264 | BAP1 | c.2120G>A (p.Gly707Asp) c.2066G>A (p.Gly689Asp) n.793G>A c.319G>A c.692G>A (p.Gly231Asp) c.2189G>A (p.Gly730Asp) c.2144G>A (p.Gly715Asp) c.2135G>A (p.Gly712Asp) c.2075G>A (p.Gly692Asp) | dbSNP gnomAD v4 |
3 | g.52402359C>A | CA353094267 | BAP1 | c.2119G>T (p.Gly707Cys) c.2065G>T (p.Gly689Cys) n.792G>T c.318G>T c.691G>T (p.Gly231Cys) c.2188G>T (p.Gly730Cys) c.2143G>T (p.Gly715Cys) c.2134G>T (p.Gly712Cys) c.2074G>T (p.Gly692Cys) | gnomAD v4 |
3 | g.52402359C= | CA1364834525 | BAP1 | c.2119G= (p.Gly707=) c.2065G= (p.Gly689=) n.792G= c.318G= c.691G= (p.Gly231=) c.2188G= (p.Gly730=) c.2143G= (p.Gly715=) c.2134G= (p.Gly712=) c.2074G= (p.Gly692=) | |
3 | g.52402359C>G | CA353094270 | BAP1 | c.2119G>C (p.Gly707Arg) c.2065G>C (p.Gly689Arg) n.792G>C c.318G>C c.691G>C (p.Gly231Arg) c.2188G>C (p.Gly730Arg) c.2143G>C (p.Gly715Arg) c.2134G>C (p.Gly712Arg) c.2074G>C (p.Gly692Arg) | |
3 | g.52402359C>T | CA353094269 | BAP1 | c.2119G>A (p.Gly707Ser) c.2065G>A (p.Gly689Ser) n.792G>A c.318G>A c.691G>A (p.Gly231Ser) c.2188G>A (p.Gly730Ser) c.2143G>A (p.Gly715Ser) c.2134G>A (p.Gly712Ser) c.2074G>A (p.Gly692Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402360G>A | CA2436587 | BAP1 | c.2118C>T (p.Ile706=) c.2064C>T (p.Ile688=) n.791C>T c.317C>T c.690C>T (p.Ile230=) c.2187C>T (p.Ile729=) c.2142C>T (p.Ile714=) c.2133C>T (p.Ile711=) c.2073C>T (p.Ile691=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402360G>C | CA353094273 | BAP1 | c.2118C>G (p.Ile706Met) c.2064C>G (p.Ile688Met) n.791C>G c.317C>G c.690C>G (p.Ile230Met) c.2187C>G (p.Ile729Met) c.2142C>G (p.Ile714Met) c.2133C>G (p.Ile711Met) c.2073C>G (p.Ile691Met) | |
3 | g.52402360G= | CA1364834527 | BAP1 | c.2118C= (p.Ile706=) c.2064C= (p.Ile688=) n.791C= c.317C= c.690C= (p.Ile230=) c.2187C= (p.Ile729=) c.2142C= (p.Ile714=) c.2133C= (p.Ile711=) c.2073C= (p.Ile691=) | |
3 | g.52402360G>T | CA2436588 | BAP1 | c.2118C>A (p.Ile706=) c.2064C>A (p.Ile688=) n.791C>A c.317C>A c.690C>A (p.Ile230=) c.2187C>A (p.Ile729=) c.2142C>A (p.Ile714=) c.2133C>A (p.Ile711=) c.2073C>A (p.Ile691=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402361A>C | CA353094276 | BAP1 | c.2117T>G (p.Ile706Ser) c.2063T>G (p.Ile688Ser) n.790T>G c.316T>G c.689T>G (p.Ile230Ser) c.2186T>G (p.Ile729Ser) c.2141T>G (p.Ile714Ser) c.2132T>G (p.Ile711Ser) c.2072T>G (p.Ile691Ser) | |
3 | g.52402361A>G | CA353094277 | BAP1 | c.2117T>C (p.Ile706Thr) c.2063T>C (p.Ile688Thr) n.790T>C c.316T>C c.689T>C (p.Ile230Thr) c.2186T>C (p.Ile729Thr) c.2141T>C (p.Ile714Thr) c.2132T>C (p.Ile711Thr) c.2072T>C (p.Ile691Thr) | |
3 | g.52402361A>T | CA353094279 | BAP1 | c.2117T>A (p.Ile706Asn) c.2063T>A (p.Ile688Asn) n.790T>A c.316T>A c.689T>A (p.Ile230Asn) c.2186T>A (p.Ile729Asn) c.2141T>A (p.Ile714Asn) c.2132T>A (p.Ile711Asn) c.2072T>A (p.Ile691Asn) | |
3 | g.52402362T>A | CA353094280 | BAP1 | c.2116A>T (p.Ile706Phe) c.2062A>T (p.Ile688Phe) n.789A>T c.315A>T c.688A>T (p.Ile230Phe) c.2185A>T (p.Ile729Phe) c.2140A>T (p.Ile714Phe) c.2131A>T (p.Ile711Phe) c.2071A>T (p.Ile691Phe) | |
3 | g.52402362T>C | CA353094281 | BAP1 | c.2116A>G (p.Ile706Val) c.2062A>G (p.Ile688Val) n.789A>G c.315A>G c.688A>G (p.Ile230Val) c.2185A>G (p.Ile729Val) c.2140A>G (p.Ile714Val) c.2131A>G (p.Ile711Val) c.2071A>G (p.Ile691Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402362T>G | CA353094283 | BAP1 | c.2116A>C (p.Ile706Leu) c.2062A>C (p.Ile688Leu) n.789A>C c.315A>C c.688A>C (p.Ile230Leu) c.2185A>C (p.Ile729Leu) c.2140A>C (p.Ile714Leu) c.2131A>C (p.Ile711Leu) c.2071A>C (p.Ile691Leu) | |
3 | g.52402362T= | CA1364834530 | BAP1 | c.2116A= (p.Ile706=) c.2062A= (p.Ile688=) n.789A= c.315A= c.688A= (p.Ile230=) c.2185A= (p.Ile729=) c.2140A= (p.Ile714=) c.2131A= (p.Ile711=) c.2071A= (p.Ile691=) | |
3 | g.52402363G>A | CA433885951 | BAP1 | c.2115C>T (p.Ser705=) c.2061C>T (p.Ser687=) n.788C>T c.314C>T c.687C>T (p.Ser229=) c.2184C>T (p.Ser728=) c.2139C>T (p.Ser713=) c.2130C>T (p.Ser710=) c.2070C>T (p.Ser690=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402363G>C | CA353094285 | BAP1 | c.2115C>G (p.Ser705Arg) c.2061C>G (p.Ser687Arg) n.788C>G c.314C>G c.687C>G (p.Ser229Arg) c.2184C>G (p.Ser728Arg) c.2139C>G (p.Ser713Arg) c.2130C>G (p.Ser710Arg) c.2070C>G (p.Ser690Arg) | ClinVar gnomAD v4 |
3 | g.52402363G= | CA1364834532 | BAP1 | c.2115C= (p.Ser705=) c.2061C= (p.Ser687=) n.788C= c.314C= c.687C= (p.Ser229=) c.2184C= (p.Ser728=) c.2139C= (p.Ser713=) c.2130C= (p.Ser710=) c.2070C= (p.Ser690=) | |
3 | g.52402363G>T | CA353094286 | BAP1 | c.2115C>A (p.Ser705Arg) c.2061C>A (p.Ser687Arg) n.788C>A c.314C>A c.687C>A (p.Ser229Arg) c.2184C>A (p.Ser728Arg) c.2139C>A (p.Ser713Arg) c.2130C>A (p.Ser710Arg) c.2070C>A (p.Ser690Arg) | gnomAD v4 |
3 | g.52402364C>A | CA353094294 | BAP1 | c.2114G>T (p.Ser705Ile) c.2060G>T (p.Ser687Ile) n.787G>T c.313G>T c.686G>T (p.Ser229Ile) c.2183G>T (p.Ser728Ile) c.2138G>T (p.Ser713Ile) c.2129G>T (p.Ser710Ile) c.2069G>T (p.Ser690Ile) | gnomAD v4 |
3 | g.52402364C= | CA1364834536 | BAP1 | c.2114G= (p.Ser705=) c.2060G= (p.Ser687=) n.787G= c.313G= c.686G= (p.Ser229=) c.2183G= (p.Ser728=) c.2138G= (p.Ser713=) c.2129G= (p.Ser710=) c.2069G= (p.Ser690=) | |
3 | g.52402364C>G | CA353094292 | BAP1 | c.2114G>C (p.Ser705Thr) c.2060G>C (p.Ser687Thr) n.787G>C c.313G>C c.686G>C (p.Ser229Thr) c.2183G>C (p.Ser728Thr) c.2138G>C (p.Ser713Thr) c.2129G>C (p.Ser710Thr) c.2069G>C (p.Ser690Thr) | ClinVar dbSNP |
3 | g.52402364C>T | CA353094289 | BAP1 | c.2114G>A (p.Ser705Asn) c.2060G>A (p.Ser687Asn) n.787G>A c.313G>A c.686G>A (p.Ser229Asn) c.2183G>A (p.Ser728Asn) c.2138G>A (p.Ser713Asn) c.2129G>A (p.Ser710Asn) c.2069G>A (p.Ser690Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.52402365T>A | CA353094296 | BAP1 | c.2113A>T (p.Ser705Cys) c.2059A>T (p.Ser687Cys) n.786A>T c.312A>T c.685A>T (p.Ser229Cys) c.2182A>T (p.Ser728Cys) c.2137A>T (p.Ser713Cys) c.2128A>T (p.Ser710Cys) c.2068A>T (p.Ser690Cys) | |
3 | g.52402365T>C | CA353094297 | BAP1 | c.2113A>G (p.Ser705Gly) c.2059A>G (p.Ser687Gly) n.786A>G c.312A>G c.685A>G (p.Ser229Gly) c.2182A>G (p.Ser728Gly) c.2137A>G (p.Ser713Gly) c.2128A>G (p.Ser710Gly) c.2068A>G (p.Ser690Gly) | gnomAD v4 |
3 | g.52402365T>G | CA353094299 | BAP1 | c.2113A>C (p.Ser705Arg) c.2059A>C (p.Ser687Arg) n.786A>C c.312A>C c.685A>C (p.Ser229Arg) c.2182A>C (p.Ser728Arg) c.2137A>C (p.Ser713Arg) c.2128A>C (p.Ser710Arg) c.2068A>C (p.Ser690Arg) | |
3 | g.52402366G>A | CA433885957 | BAP1 | c.2112C>T (p.Val704=) c.2058C>T (p.Val686=) n.785C>T c.311C>T c.684C>T (p.Val228=) c.2181C>T (p.Val727=) c.2136C>T (p.Val712=) c.2127C>T (p.Val709=) c.2067C>T (p.Val689=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402366G>C | CA433885958 | BAP1 | c.2112C>G (p.Val704=) c.2058C>G (p.Val686=) n.785C>G c.311C>G c.684C>G (p.Val228=) c.2181C>G (p.Val727=) c.2136C>G (p.Val712=) c.2127C>G (p.Val709=) c.2067C>G (p.Val689=) | |
3 | g.52402366G= | CA1364834538 | BAP1 | c.2112C= (p.Val704=) c.2058C= (p.Val686=) n.785C= c.311C= c.684C= (p.Val228=) c.2181C= (p.Val727=) c.2136C= (p.Val712=) c.2127C= (p.Val709=) c.2067C= (p.Val689=) | |
3 | g.52402366G>T | CA433885961 | BAP1 | c.2112C>A (p.Val704=) c.2058C>A (p.Val686=) n.785C>A c.311C>A c.684C>A (p.Val228=) c.2181C>A (p.Val727=) c.2136C>A (p.Val712=) c.2127C>A (p.Val709=) c.2067C>A (p.Val689=) | gnomAD v4 |
3 | g.52402367A= | CA1364834541 | BAP1 | c.2111T= (p.Val704=) c.2057T= (p.Val686=) n.784T= c.310T= c.683T= (p.Val228=) c.2180T= (p.Val727=) c.2135T= (p.Val712=) c.2126T= (p.Val709=) c.2066T= (p.Val689=) | |
3 | g.52402367A>C | CA353094302 | BAP1 | c.2111T>G (p.Val704Gly) c.2057T>G (p.Val686Gly) n.784T>G c.310T>G c.683T>G (p.Val228Gly) c.2180T>G (p.Val727Gly) c.2135T>G (p.Val712Gly) c.2126T>G (p.Val709Gly) c.2066T>G (p.Val689Gly) | |
3 | g.52402367A>G | CA353094304 | BAP1 | c.2111T>C (p.Val704Ala) c.2057T>C (p.Val686Ala) n.784T>C c.310T>C c.683T>C (p.Val228Ala) c.2180T>C (p.Val727Ala) c.2135T>C (p.Val712Ala) c.2126T>C (p.Val709Ala) c.2066T>C (p.Val689Ala) | ClinVar dbSNP |
3 | g.52402367A>T | CA353094306 | BAP1 | c.2111T>A (p.Val704Asp) c.2057T>A (p.Val686Asp) n.784T>A c.310T>A c.683T>A (p.Val228Asp) c.2180T>A (p.Val727Asp) c.2135T>A (p.Val712Asp) c.2126T>A (p.Val709Asp) c.2066T>A (p.Val689Asp) | |
3 | g.52402368C>A | CA353094307 | BAP1 | c.2110G>T (p.Val704Phe) c.2056G>T (p.Val686Phe) n.783G>T c.309G>T c.682G>T (p.Val228Phe) c.2179G>T (p.Val727Phe) c.2134G>T (p.Val712Phe) c.2125G>T (p.Val709Phe) c.2065G>T (p.Val689Phe) | ClinVar dbSNP |
3 | g.52402368C= | CA1364834545 | BAP1 | c.2110G= (p.Val704=) c.2056G= (p.Val686=) n.783G= c.309G= c.682G= (p.Val228=) c.2179G= (p.Val727=) c.2134G= (p.Val712=) c.2125G= (p.Val709=) c.2065G= (p.Val689=) | |
3 | g.52402368C>G | CA353094308 | BAP1 | c.2110G>C (p.Val704Leu) c.2056G>C (p.Val686Leu) n.783G>C c.309G>C c.682G>C (p.Val228Leu) c.2179G>C (p.Val727Leu) c.2134G>C (p.Val712Leu) c.2125G>C (p.Val709Leu) c.2065G>C (p.Val689Leu) | |
3 | g.52402368C>T | CA353094311 | BAP1 | c.2110G>A (p.Val704Ile) c.2056G>A (p.Val686Ile) n.783G>A c.309G>A c.682G>A (p.Val228Ile) c.2179G>A (p.Val727Ile) c.2134G>A (p.Val712Ile) c.2125G>A (p.Val709Ile) c.2065G>A (p.Val689Ile) | ClinVar |
3 | g.52402371dup | CA645529853 | BAP1 | c.2110dup (p.Val704GlyfsTer13) c.2056dup (p.Val686GlyfsTer13) n.783dup c.309dup c.682dup (p.Val228GlyfsTer13) c.2179dup (p.Val727GlyfsTer13) c.2134dup (p.Val712GlyfsTer13) c.2125dup (p.Val709GlyfsTer13) c.2065dup (p.Val689GlyfsTer13) | COSMIC |
3 | g.52402370_52402371dup | CA2825001267 | BAP1 | c.2109_2110dup (p.Val704GlyfsTer?) c.2055_2056dup (p.Val686GlyfsTer?) n.782_783dup c.308_309dup c.681_682dup (p.Val228GlyfsTer?) c.2178_2179dup (p.Val727GlyfsTer?) c.2133_2134dup (p.Val712GlyfsTer?) c.2124_2125dup (p.Val709GlyfsTer?) c.2064_2065dup (p.Val689GlyfsTer?) | ClinVar |
3 | g.52402371del | CA433885963 | BAP1 | c.2110del (p.Val704SerfsTer?) c.2056del (p.Val686SerfsTer?) n.783del c.309del c.682del (p.Val228SerfsTer?) c.2179del (p.Val727SerfsTer?) c.2134del (p.Val712SerfsTer?) c.2125del (p.Val709SerfsTer?) c.2065del (p.Val689SerfsTer?) | COSMIC |
3 | g.52402368_52402369insG | CA433885966 | BAP1 | c.2109_2110insC (p.Val704ArgfsTer13) c.2055_2056insC (p.Val686ArgfsTer13) n.782_783insC c.308_309insC c.681_682insC (p.Val228ArgfsTer13) c.2178_2179insC (p.Val727ArgfsTer13) c.2133_2134insC (p.Val712ArgfsTer13) c.2124_2125insC (p.Val709ArgfsTer13) c.2064_2065insC (p.Val689ArgfsTer13) | |
3 | g.52402369C>A | CA433885969 | BAP1 | c.2109G>T (p.Gly703=) c.2055G>T (p.Gly685=) n.782G>T c.308G>T c.681G>T (p.Gly227=) c.2178G>T (p.Gly726=) c.2133G>T (p.Gly711=) c.2124G>T (p.Gly708=) c.2064G>T (p.Gly688=) | gnomAD v4 |
3 | g.52402369C>G | CA433885970 | BAP1 | c.2109G>C (p.Gly703=) c.2055G>C (p.Gly685=) n.782G>C c.308G>C c.681G>C (p.Gly227=) c.2178G>C (p.Gly726=) c.2133G>C (p.Gly711=) c.2124G>C (p.Gly708=) c.2064G>C (p.Gly688=) | |
3 | g.52402369C>T | CA433885967 | BAP1 | c.2109G>A (p.Gly703=) c.2055G>A (p.Gly685=) n.782G>A c.308G>A c.681G>A (p.Gly227=) c.2178G>A (p.Gly726=) c.2133G>A (p.Gly711=) c.2124G>A (p.Gly708=) c.2064G>A (p.Gly688=) | ClinVar gnomAD v4 |
3 | g.52402370C>A | CA353094313 | BAP1 | c.2108G>T (p.Gly703Val) c.2054G>T (p.Gly685Val) n.781G>T c.307G>T c.680G>T (p.Gly227Val) c.2177G>T (p.Gly726Val) c.2132G>T (p.Gly711Val) c.2123G>T (p.Gly708Val) c.2063G>T (p.Gly688Val) | |
3 | g.52402370C>G | CA353094316 | BAP1 | c.2108G>C (p.Gly703Ala) c.2054G>C (p.Gly685Ala) n.781G>C c.307G>C c.680G>C (p.Gly227Ala) c.2177G>C (p.Gly726Ala) c.2132G>C (p.Gly711Ala) c.2123G>C (p.Gly708Ala) c.2063G>C (p.Gly688Ala) | |
3 | g.52402370C>T | CA353094317 | BAP1 | c.2108G>A (p.Gly703Glu) c.2054G>A (p.Gly685Glu) n.781G>A c.307G>A c.680G>A (p.Gly227Glu) c.2177G>A (p.Gly726Glu) c.2132G>A (p.Gly711Glu) c.2123G>A (p.Gly708Glu) c.2063G>A (p.Gly688Glu) | |
3 | g.52402371C>A | CA353094322 | BAP1 | c.2107G>T (p.Gly703Trp) c.2053G>T (p.Gly685Trp) n.780G>T c.306G>T c.679G>T (p.Gly227Trp) c.2176G>T (p.Gly726Trp) c.2131G>T (p.Gly711Trp) c.2122G>T (p.Gly708Trp) c.2062G>T (p.Gly688Trp) | |
3 | g.52402371C>G | CA353094324 | BAP1 | c.2107G>C (p.Gly703Arg) c.2053G>C (p.Gly685Arg) n.780G>C c.306G>C c.679G>C (p.Gly227Arg) c.2176G>C (p.Gly726Arg) c.2131G>C (p.Gly711Arg) c.2122G>C (p.Gly708Arg) c.2062G>C (p.Gly688Arg) | |
3 | g.52402371C>T | CA353094320 | BAP1 | c.2107G>A (p.Gly703Arg) c.2053G>A (p.Gly685Arg) n.780G>A c.306G>A c.679G>A (p.Gly227Arg) c.2176G>A (p.Gly726Arg) c.2131G>A (p.Gly711Arg) c.2122G>A (p.Gly708Arg) c.2062G>A (p.Gly688Arg) | gnomAD v4 |
3 | g.52402372T>A | CA353094330 | BAP1 | c.2106A>T (p.Gln702His) c.2052A>T (p.Gln684His) n.779A>T c.305A>T c.678A>T (p.Gln226His) c.2175A>T (p.Gln725His) c.2130A>T (p.Gln710His) c.2121A>T (p.Gln707His) c.2061A>T (p.Gln687His) | gnomAD v4 |
3 | g.52402372T>C | CA433885975 | BAP1 | c.2106A>G (p.Gln702=) c.2052A>G (p.Gln684=) n.779A>G c.305A>G c.678A>G (p.Gln226=) c.2175A>G (p.Gln725=) c.2130A>G (p.Gln710=) c.2121A>G (p.Gln707=) c.2061A>G (p.Gln687=) | gnomAD v4 |
3 | g.52402372T>G | CA353094328 | BAP1 | c.2106A>C (p.Gln702His) c.2052A>C (p.Gln684His) n.779A>C c.305A>C c.678A>C (p.Gln226His) c.2175A>C (p.Gln725His) c.2130A>C (p.Gln710His) c.2121A>C (p.Gln707His) c.2061A>C (p.Gln687His) | |
3 | g.52402373dup | CA645529854 | BAP1 | c.2106dup (p.Gly703ArgfsTer14) c.2052dup (p.Gly685ArgfsTer14) n.779dup c.305dup c.678dup (p.Gly227ArgfsTer14) c.2175dup (p.Gly726ArgfsTer14) c.2130dup (p.Gly711ArgfsTer14) c.2121dup (p.Gly708ArgfsTer14) c.2061dup (p.Gly688ArgfsTer14) | COSMIC |
3 | g.52402373T>A | CA353094336 | BAP1 | c.2105A>T (p.Gln702Leu) c.2051A>T (p.Gln684Leu) n.778A>T c.304A>T c.677A>T (p.Gln226Leu) c.2174A>T (p.Gln725Leu) c.2129A>T (p.Gln710Leu) c.2120A>T (p.Gln707Leu) c.2060A>T (p.Gln687Leu) | |
3 | g.52402373T>C | CA353094337 | BAP1 | c.2105A>G (p.Gln702Arg) c.2051A>G (p.Gln684Arg) n.778A>G c.304A>G c.677A>G (p.Gln226Arg) c.2174A>G (p.Gln725Arg) c.2129A>G (p.Gln710Arg) c.2120A>G (p.Gln707Arg) c.2060A>G (p.Gln687Arg) | |
3 | g.52402373T>G | CA353094340 | BAP1 | c.2105A>C (p.Gln702Pro) c.2051A>C (p.Gln684Pro) n.778A>C c.304A>C c.677A>C (p.Gln226Pro) c.2174A>C (p.Gln725Pro) c.2129A>C (p.Gln710Pro) c.2120A>C (p.Gln707Pro) c.2060A>C (p.Gln687Pro) | |
3 | g.52402373_52402398del | CA645529855 | BAP1 | c.2080_2105del (p.Gln694ArgfsTer14) c.2026_2051del (p.Gln676ArgfsTer14) n.753_778del c.279_304del c.652_677del (p.Gln218ArgfsTer14) c.2149_2174del (p.Gln717ArgfsTer14) c.2104_2129del (p.Gln702ArgfsTer14) c.2095_2120del (p.Gln699ArgfsTer14) c.2035_2060del (p.Gln679ArgfsTer14) | COSMIC |
3 | g.52402374G>A | CA353094344 | BAP1 | c.2104C>T (p.Gln702Ter) c.2050C>T (p.Gln684Ter) n.777C>T c.303C>T c.676C>T (p.Gln226Ter) c.2173C>T (p.Gln725Ter) c.2128C>T (p.Gln710Ter) c.2119C>T (p.Gln707Ter) c.2059C>T (p.Gln687Ter) | gnomAD v4 |
3 | g.52402374G>C | CA353094346 | BAP1 | c.2104C>G (p.Gln702Glu) c.2050C>G (p.Gln684Glu) n.777C>G c.303C>G c.676C>G (p.Gln226Glu) c.2173C>G (p.Gln725Glu) c.2128C>G (p.Gln710Glu) c.2119C>G (p.Gln707Glu) c.2059C>G (p.Gln687Glu) | |
3 | g.52402374G>T | CA353094347 | BAP1 | c.2104C>A (p.Gln702Lys) c.2050C>A (p.Gln684Lys) n.777C>A c.303C>A c.676C>A (p.Gln226Lys) c.2173C>A (p.Gln725Lys) c.2128C>A (p.Gln710Lys) c.2119C>A (p.Gln707Lys) c.2059C>A (p.Gln687Lys) | gnomAD v4 |
3 | g.52402375G>A | CA2436589 | BAP1 | c.2103C>T (p.Arg701=) c.2049C>T (p.Arg683=) n.776C>T c.302C>T c.675C>T (p.Arg225=) c.2172C>T (p.Arg724=) c.2127C>T (p.Arg709=) c.2118C>T (p.Arg706=) c.2058C>T (p.Arg686=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52402375G>C | CA433885980 | BAP1 | c.2103C>G (p.Arg701=) c.2049C>G (p.Arg683=) n.776C>G c.302C>G c.675C>G (p.Arg225=) c.2172C>G (p.Arg724=) c.2127C>G (p.Arg709=) c.2118C>G (p.Arg706=) c.2058C>G (p.Arg686=) | |
3 | g.52402375G= | CA1364834549 | BAP1 | c.2103C= (p.Arg701=) c.2049C= (p.Arg683=) n.776C= c.302C= c.675C= (p.Arg225=) c.2172C= (p.Arg724=) c.2127C= (p.Arg709=) c.2118C= (p.Arg706=) c.2058C= (p.Arg686=) | |
3 | g.52402375G>T | CA433885981 | BAP1 | c.2103C>A (p.Arg701=) c.2049C>A (p.Arg683=) n.776C>A c.302C>A c.675C>A (p.Arg225=) c.2172C>A (p.Arg724=) c.2127C>A (p.Arg709=) c.2118C>A (p.Arg706=) c.2058C>A (p.Arg686=) | gnomAD v4 |
3 | g.52402376C>A | CA353094350 | BAP1 | c.2102G>T (p.Arg701Leu) c.2048G>T (p.Arg683Leu) n.775G>T c.301G>T c.674G>T (p.Arg225Leu) c.2171G>T (p.Arg724Leu) c.2126G>T (p.Arg709Leu) c.2117G>T (p.Arg706Leu) c.2057G>T (p.Arg686Leu) | gnomAD v4 |
3 | g.52402376C= | CA1364834551 | BAP1 | c.2102G= (p.Arg701=) c.2048G= (p.Arg683=) n.775G= c.301G= c.674G= (p.Arg225=) c.2171G= (p.Arg724=) c.2126G= (p.Arg709=) c.2117G= (p.Arg706=) c.2057G= (p.Arg686=) | |
3 | g.52402376C>G | CA353094353 | BAP1 | c.2102G>C (p.Arg701Pro) c.2048G>C (p.Arg683Pro) n.775G>C c.301G>C c.674G>C (p.Arg225Pro) c.2171G>C (p.Arg724Pro) c.2126G>C (p.Arg709Pro) c.2117G>C (p.Arg706Pro) c.2057G>C (p.Arg686Pro) | |
3 | g.52402376C>T | CA353094355 | BAP1 | c.2102G>A (p.Arg701His) c.2048G>A (p.Arg683His) n.775G>A c.301G>A c.674G>A (p.Arg225His) c.2171G>A (p.Arg724His) c.2126G>A (p.Arg709His) c.2117G>A (p.Arg706His) c.2057G>A (p.Arg686His) | ClinVar dbSNP gnomAD v4 |
3 | g.52402377G>A | CA353094358 | BAP1 | c.2101C>T (p.Arg701Cys) c.2047C>T (p.Arg683Cys) n.774C>T c.300C>T c.673C>T (p.Arg225Cys) c.2170C>T (p.Arg724Cys) c.2125C>T (p.Arg709Cys) c.2116C>T (p.Arg706Cys) c.2056C>T (p.Arg686Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.52402377G>C | CA353094361 | BAP1 | c.2101C>G (p.Arg701Gly) c.2047C>G (p.Arg683Gly) n.774C>G c.300C>G c.673C>G (p.Arg225Gly) c.2170C>G (p.Arg724Gly) c.2125C>G (p.Arg709Gly) c.2116C>G (p.Arg706Gly) c.2056C>G (p.Arg686Gly) | |
3 | g.52402377G= | CA1364834553 | BAP1 | c.2101C= (p.Arg701=) c.2047C= (p.Arg683=) n.774C= c.300C= c.673C= (p.Arg225=) c.2170C= (p.Arg724=) c.2125C= (p.Arg709=) c.2116C= (p.Arg706=) c.2056C= (p.Arg686=) | |
3 | g.52402377G>T | CA353094363 | BAP1 | c.2101C>A (p.Arg701Ser) c.2047C>A (p.Arg683Ser) n.774C>A c.300C>A c.673C>A (p.Arg225Ser) c.2170C>A (p.Arg724Ser) c.2125C>A (p.Arg709Ser) c.2116C>A (p.Arg706Ser) c.2056C>A (p.Arg686Ser) | gnomAD v4 |
3 | g.52402378C>A | CA433885990 | BAP1 | c.2100G>T (p.Arg700=) c.2046G>T (p.Arg682=) n.773G>T c.299G>T c.672G>T (p.Arg224=) c.2169G>T (p.Arg723=) c.2124G>T (p.Arg708=) c.2115G>T (p.Arg705=) c.2055G>T (p.Arg685=) | |
3 | g.52402378C= | CA1364834555 | BAP1 | c.2100G= (p.Arg700=) c.2046G= (p.Arg682=) n.773G= c.299G= c.672G= (p.Arg224=) c.2169G= (p.Arg723=) c.2124G= (p.Arg708=) c.2115G= (p.Arg705=) c.2055G= (p.Arg685=) | |
3 | g.52402378C>G | CA433885991 | BAP1 | c.2100G>C (p.Arg700=) c.2046G>C (p.Arg682=) n.773G>C c.299G>C c.672G>C (p.Arg224=) c.2169G>C (p.Arg723=) c.2124G>C (p.Arg708=) c.2115G>C (p.Arg705=) c.2055G>C (p.Arg685=) | |
3 | g.52402378C>T | CA433885989 | BAP1 | c.2100G>A (p.Arg700=) c.2046G>A (p.Arg682=) n.773G>A c.299G>A c.672G>A (p.Arg224=) c.2169G>A (p.Arg723=) c.2124G>A (p.Arg708=) c.2115G>A (p.Arg705=) c.2055G>A (p.Arg685=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402379del | CA2573052217 | BAP1 | c.2100del (p.Arg701AlafsTer?) c.2046del (p.Arg683AlafsTer?) n.773del c.299del c.672del (p.Arg225AlafsTer?) c.2169del (p.Arg724AlafsTer?) c.2124del (p.Arg709AlafsTer?) c.2115del (p.Arg706AlafsTer?) c.2055del (p.Arg686AlafsTer?) | ClinVar dbSNP |
3 | g.52402379C>A | CA353094366 | BAP1 | c.2099G>T (p.Arg700Leu) c.2045G>T (p.Arg682Leu) n.772G>T c.298G>T c.671G>T (p.Arg224Leu) c.2168G>T (p.Arg723Leu) c.2123G>T (p.Arg708Leu) c.2114G>T (p.Arg705Leu) c.2054G>T (p.Arg685Leu) | |
3 | g.52402379C= | CA1364834556 | BAP1 | c.2099G= (p.Arg700=) c.2045G= (p.Arg682=) n.772G= c.298G= c.671G= (p.Arg224=) c.2168G= (p.Arg723=) c.2123G= (p.Arg708=) c.2114G= (p.Arg705=) c.2054G= (p.Arg685=) | |
3 | g.52402379C>G | CA353094370 | BAP1 | c.2099G>C (p.Arg700Pro) c.2045G>C (p.Arg682Pro) n.772G>C c.298G>C c.671G>C (p.Arg224Pro) c.2168G>C (p.Arg723Pro) c.2123G>C (p.Arg708Pro) c.2114G>C (p.Arg705Pro) c.2054G>C (p.Arg685Pro) | ClinVar |
3 | g.52402379C>T | CA353094368 | BAP1 | c.2099G>A (p.Arg700Gln) c.2045G>A (p.Arg682Gln) n.772G>A c.298G>A c.671G>A (p.Arg224Gln) c.2168G>A (p.Arg723Gln) c.2123G>A (p.Arg708Gln) c.2114G>A (p.Arg705Gln) c.2054G>A (p.Arg685Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
3 | g.52402380G>A | CA353094373 | BAP1 | c.2098C>T (p.Arg700Trp) c.2044C>T (p.Arg682Trp) n.771C>T c.297C>T c.670C>T (p.Arg224Trp) c.2167C>T (p.Arg723Trp) c.2122C>T (p.Arg708Trp) c.2113C>T (p.Arg705Trp) c.2053C>T (p.Arg685Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402380G>C | CA353094375 | BAP1 | c.2098C>G (p.Arg700Gly) c.2044C>G (p.Arg682Gly) n.771C>G c.297C>G c.670C>G (p.Arg224Gly) c.2167C>G (p.Arg723Gly) c.2122C>G (p.Arg708Gly) c.2113C>G (p.Arg705Gly) c.2053C>G (p.Arg685Gly) | |
3 | g.52402380G= | CA1364834558 | BAP1 | c.2098C= (p.Arg700=) c.2044C= (p.Arg682=) n.771C= c.297C= c.670C= (p.Arg224=) c.2167C= (p.Arg723=) c.2122C= (p.Arg708=) c.2113C= (p.Arg705=) c.2053C= (p.Arg685=) | |
3 | g.52402380G>T | CA433885999 | BAP1 | c.2098C>A (p.Arg700=) c.2044C>A (p.Arg682=) n.771C>A c.297C>A c.670C>A (p.Arg224=) c.2167C>A (p.Arg723=) c.2122C>A (p.Arg708=) c.2113C>A (p.Arg705=) c.2053C>A (p.Arg685=) | gnomAD v4 |
3 | g.52402381C>A | CA433886000 | BAP1 | c.2097G>T (p.Arg699=) c.2043G>T (p.Arg681=) n.770G>T c.296G>T c.669G>T (p.Arg223=) c.2166G>T (p.Arg722=) c.2121G>T (p.Arg707=) c.2112G>T (p.Arg704=) c.2052G>T (p.Arg684=) | gnomAD v4 |
3 | g.52402381C>G | CA433886006 | BAP1 | c.2097G>C (p.Arg699=) c.2043G>C (p.Arg681=) n.770G>C c.296G>C c.669G>C (p.Arg223=) c.2166G>C (p.Arg722=) c.2121G>C (p.Arg707=) c.2112G>C (p.Arg704=) c.2052G>C (p.Arg684=) | |
3 | g.52402381C>T | CA433886007 | BAP1 | c.2097G>A (p.Arg699=) c.2043G>A (p.Arg681=) n.770G>A c.296G>A c.669G>A (p.Arg223=) c.2166G>A (p.Arg722=) c.2121G>A (p.Arg707=) c.2112G>A (p.Arg704=) c.2052G>A (p.Arg684=) | |
3 | g.52402382del | CA645529856 | BAP1 | c.2097del (p.Arg700GlyfsTer?) c.2043del (p.Arg682GlyfsTer?) n.770del c.296del c.669del (p.Arg224GlyfsTer?) c.2166del (p.Arg723GlyfsTer?) c.2121del (p.Arg708GlyfsTer?) c.2112del (p.Arg705GlyfsTer?) c.2052del (p.Arg685GlyfsTer?) | COSMIC |
3 | g.52402382C>A | CA353094377 | BAP1 | c.2096G>T (p.Arg699Leu) c.2042G>T (p.Arg681Leu) n.769G>T c.295G>T c.668G>T (p.Arg223Leu) c.2165G>T (p.Arg722Leu) c.2120G>T (p.Arg707Leu) c.2111G>T (p.Arg704Leu) c.2051G>T (p.Arg684Leu) | ClinVar gnomAD v4 |
3 | g.52402382C= | CA1364834562 | BAP1 | c.2096G= (p.Arg699=) c.2042G= (p.Arg681=) n.769G= c.295G= c.668G= (p.Arg223=) c.2165G= (p.Arg722=) c.2120G= (p.Arg707=) c.2111G= (p.Arg704=) c.2051G= (p.Arg684=) | |
3 | g.52402382C>G | CA353094380 | BAP1 | c.2096G>C (p.Arg699Pro) c.2042G>C (p.Arg681Pro) n.769G>C c.295G>C c.668G>C (p.Arg223Pro) c.2165G>C (p.Arg722Pro) c.2120G>C (p.Arg707Pro) c.2111G>C (p.Arg704Pro) c.2051G>C (p.Arg684Pro) | |
3 | g.52402382C>T | CA353094381 | BAP1 | c.2096G>A (p.Arg699Gln) c.2042G>A (p.Arg681Gln) n.769G>A c.295G>A c.668G>A (p.Arg223Gln) c.2165G>A (p.Arg722Gln) c.2120G>A (p.Arg707Gln) c.2111G>A (p.Arg704Gln) c.2051G>A (p.Arg684Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402383_52402384del | CA645529857 | BAP1 | c.2095_2096del (p.Arg699AlafsTer17) c.2041_2042del (p.Arg681AlafsTer17) n.768_769del c.294_295del c.667_668del (p.Arg223AlafsTer17) c.2164_2165del (p.Arg722AlafsTer17) c.2119_2120del (p.Arg707AlafsTer17) c.2110_2111del (p.Arg704AlafsTer17) c.2050_2051del (p.Arg684AlafsTer17) | COSMIC |
3 | g.52402384_52402387del | CA2739292488 | BAP1 | c.2093_2096del (p.Val698GlyfsTer?) c.2039_2042del (p.Val680GlyfsTer?) n.766_769del c.292_295del c.665_668del (p.Val222GlyfsTer?) c.2162_2165del (p.Val721GlyfsTer?) c.2117_2120del (p.Val706GlyfsTer?) c.2108_2111del (p.Val703GlyfsTer?) c.2048_2051del (p.Val683GlyfsTer?) | |
3 | g.52402383G>A | CA353094382 | BAP1 | c.2095C>T (p.Arg699Trp) c.2041C>T (p.Arg681Trp) n.768C>T c.294C>T c.667C>T (p.Arg223Trp) c.2164C>T (p.Arg722Trp) c.2119C>T (p.Arg707Trp) c.2110C>T (p.Arg704Trp) c.2050C>T (p.Arg684Trp) | ClinVar dbSNP gnomAD v4 |
3 | g.52402383G>C | CA353094385 | BAP1 | c.2095C>G (p.Arg699Gly) c.2041C>G (p.Arg681Gly) n.768C>G c.294C>G c.667C>G (p.Arg223Gly) c.2164C>G (p.Arg722Gly) c.2119C>G (p.Arg707Gly) c.2110C>G (p.Arg704Gly) c.2050C>G (p.Arg684Gly) | |
3 | g.52402383G= | CA1364834565 | BAP1 | c.2095C= (p.Arg699=) c.2041C= (p.Arg681=) n.768C= c.294C= c.667C= (p.Arg223=) c.2164C= (p.Arg722=) c.2119C= (p.Arg707=) c.2110C= (p.Arg704=) c.2050C= (p.Arg684=) | |
3 | g.52402383G>T | CA2436590 | BAP1 | c.2095C>A (p.Arg699=) c.2041C>A (p.Arg681=) n.768C>A c.294C>A c.667C>A (p.Arg223=) c.2164C>A (p.Arg722=) c.2119C>A (p.Arg707=) c.2110C>A (p.Arg704=) c.2050C>A (p.Arg684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402384C>A | CA433886015 | BAP1 | c.2094G>T (p.Val698=) c.2040G>T (p.Val680=) n.767G>T c.293G>T c.666G>T (p.Val222=) c.2163G>T (p.Val721=) c.2118G>T (p.Val706=) c.2109G>T (p.Val703=) c.2049G>T (p.Val683=) | |
3 | g.52402384C>G | CA433886018 | BAP1 | c.2094G>C (p.Val698=) c.2040G>C (p.Val680=) n.767G>C c.293G>C c.666G>C (p.Val222=) c.2163G>C (p.Val721=) c.2118G>C (p.Val706=) c.2109G>C (p.Val703=) c.2049G>C (p.Val683=) | ClinVar |
3 | g.52402384C>T | CA433886019 | BAP1 | c.2094G>A (p.Val698=) c.2040G>A (p.Val680=) n.767G>A c.293G>A c.666G>A (p.Val222=) c.2163G>A (p.Val721=) c.2118G>A (p.Val706=) c.2109G>A (p.Val703=) c.2049G>A (p.Val683=) | |
3 | g.52402385A>C | CA353094387 | BAP1 | c.2093T>G (p.Val698Gly) c.2039T>G (p.Val680Gly) n.766T>G c.292T>G c.665T>G (p.Val222Gly) c.2162T>G (p.Val721Gly) c.2117T>G (p.Val706Gly) c.2108T>G (p.Val703Gly) c.2048T>G (p.Val683Gly) | |
3 | g.52402385A>G | CA353094389 | BAP1 | c.2093T>C (p.Val698Ala) c.2039T>C (p.Val680Ala) n.766T>C c.292T>C c.665T>C (p.Val222Ala) c.2162T>C (p.Val721Ala) c.2117T>C (p.Val706Ala) c.2108T>C (p.Val703Ala) c.2048T>C (p.Val683Ala) | dbSNP gnomAD v4 |
3 | g.52402385A>T | CA353094390 | BAP1 | c.2093T>A (p.Val698Glu) c.2039T>A (p.Val680Glu) n.766T>A c.292T>A c.665T>A (p.Val222Glu) c.2162T>A (p.Val721Glu) c.2117T>A (p.Val706Glu) c.2108T>A (p.Val703Glu) c.2048T>A (p.Val683Glu) | gnomAD v4 |
3 | g.52402386C>A | CA353094397 | BAP1 | c.2092G>T (p.Val698Leu) c.2038G>T (p.Val680Leu) n.765G>T c.291G>T c.664G>T (p.Val222Leu) c.2161G>T (p.Val721Leu) c.2116G>T (p.Val706Leu) c.2107G>T (p.Val703Leu) c.2047G>T (p.Val683Leu) | |
3 | g.52402386C= | CA1364834568 | BAP1 | c.2092G= (p.Val698=) c.2038G= (p.Val680=) n.765G= c.291G= c.664G= (p.Val222=) c.2161G= (p.Val721=) c.2116G= (p.Val706=) c.2107G= (p.Val703=) c.2047G= (p.Val683=) | |
3 | g.52402386C>G | CA353094394 | BAP1 | c.2092G>C (p.Val698Leu) c.2038G>C (p.Val680Leu) n.765G>C c.291G>C c.664G>C (p.Val222Leu) c.2161G>C (p.Val721Leu) c.2116G>C (p.Val706Leu) c.2107G>C (p.Val703Leu) c.2047G>C (p.Val683Leu) | dbSNP |
3 | g.52402386C>T | CA2436591 | BAP1 | c.2092G>A (p.Val698Met) c.2038G>A (p.Val680Met) n.765G>A c.291G>A c.664G>A (p.Val222Met) c.2161G>A (p.Val721Met) c.2116G>A (p.Val706Met) c.2107G>A (p.Val703Met) c.2047G>A (p.Val683Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402387G>A | CA2436592 | BAP1 | c.2091C>T (p.Ser697=) c.2037C>T (p.Ser679=) n.764C>T c.290C>T c.663C>T (p.Ser221=) c.2160C>T (p.Ser720=) c.2115C>T (p.Ser705=) c.2106C>T (p.Ser702=) c.2046C>T (p.Ser682=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402387G>C | CA433886026 | BAP1 | c.2091C>G (p.Ser697=) c.2037C>G (p.Ser679=) n.764C>G c.290C>G c.663C>G (p.Ser221=) c.2160C>G (p.Ser720=) c.2115C>G (p.Ser705=) c.2106C>G (p.Ser702=) c.2046C>G (p.Ser682=) | |
3 | g.52402387G= | CA1364834570 | BAP1 | c.2091C= (p.Ser697=) c.2037C= (p.Ser679=) n.764C= c.290C= c.663C= (p.Ser221=) c.2160C= (p.Ser720=) c.2115C= (p.Ser705=) c.2106C= (p.Ser702=) c.2046C= (p.Ser682=) | |
3 | g.52402387G>T | CA433886027 | BAP1 | c.2091C>A (p.Ser697=) c.2037C>A (p.Ser679=) n.764C>A c.290C>A c.663C>A (p.Ser221=) c.2160C>A (p.Ser720=) c.2115C>A (p.Ser705=) c.2106C>A (p.Ser702=) c.2046C>A (p.Ser682=) | gnomAD v4 |
3 | g.52402388G>A | CA353094401 | BAP1 | c.2090C>T (p.Ser697Phe) c.2036C>T (p.Ser679Phe) n.763C>T c.289C>T c.662C>T (p.Ser221Phe) c.2159C>T (p.Ser720Phe) c.2114C>T (p.Ser705Phe) c.2105C>T (p.Ser702Phe) c.2045C>T (p.Ser682Phe) | |
3 | g.52402388G>C | CA353094404 | BAP1 | c.2090C>G (p.Ser697Cys) c.2036C>G (p.Ser679Cys) n.763C>G c.289C>G c.662C>G (p.Ser221Cys) c.2159C>G (p.Ser720Cys) c.2114C>G (p.Ser705Cys) c.2105C>G (p.Ser702Cys) c.2045C>G (p.Ser682Cys) | COSMIC |
3 | g.52402388G>T | CA353094406 | BAP1 | c.2090C>A (p.Ser697Tyr) c.2036C>A (p.Ser679Tyr) n.763C>A c.289C>A c.662C>A (p.Ser221Tyr) c.2159C>A (p.Ser720Tyr) c.2114C>A (p.Ser705Tyr) c.2105C>A (p.Ser702Tyr) c.2045C>A (p.Ser682Tyr) | gnomAD v4 |
3 | g.52402389A>C | CA353094409 | BAP1 | c.2089T>G (p.Ser697Ala) c.2035T>G (p.Ser679Ala) n.762T>G c.288T>G c.661T>G (p.Ser221Ala) c.2158T>G (p.Ser720Ala) c.2113T>G (p.Ser705Ala) c.2104T>G (p.Ser702Ala) c.2044T>G (p.Ser682Ala) | |
3 | g.52402389A>G | CA353094411 | BAP1 | c.2089T>C (p.Ser697Pro) c.2035T>C (p.Ser679Pro) n.762T>C c.288T>C c.661T>C (p.Ser221Pro) c.2158T>C (p.Ser720Pro) c.2113T>C (p.Ser705Pro) c.2104T>C (p.Ser702Pro) c.2044T>C (p.Ser682Pro) | |
3 | g.52402389A>T | CA353094414 | BAP1 | c.2089T>A (p.Ser697Thr) c.2035T>A (p.Ser679Thr) n.762T>A c.288T>A c.661T>A (p.Ser221Thr) c.2158T>A (p.Ser720Thr) c.2113T>A (p.Ser705Thr) c.2104T>A (p.Ser702Thr) c.2044T>A (p.Ser682Thr) | |
3 | g.52402390G>A | CA433886038 | BAP1 | c.2088C>T (p.Ile696=) c.2034C>T (p.Ile678=) n.761C>T c.287C>T c.660C>T (p.Ile220=) c.2157C>T (p.Ile719=) c.2112C>T (p.Ile704=) c.2103C>T (p.Ile701=) c.2043C>T (p.Ile681=) | ClinVar dbSNP |
3 | g.52402390G>C | CA2436593 | BAP1 | c.2088C>G (p.Ile696Met) c.2034C>G (p.Ile678Met) n.761C>G c.287C>G c.660C>G (p.Ile220Met) c.2157C>G (p.Ile719Met) c.2112C>G (p.Ile704Met) c.2103C>G (p.Ile701Met) c.2043C>G (p.Ile681Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52402390G= | CA1364834574 | BAP1 | c.2088C= (p.Ile696=) c.2034C= (p.Ile678=) n.761C= c.287C= c.660C= (p.Ile220=) c.2157C= (p.Ile719=) c.2112C= (p.Ile704=) c.2103C= (p.Ile701=) c.2043C= (p.Ile681=) | |
3 | g.52402390G>T | CA433886041 | BAP1 | c.2088C>A (p.Ile696=) c.2034C>A (p.Ile678=) n.761C>A c.287C>A c.660C>A (p.Ile220=) c.2157C>A (p.Ile719=) c.2112C>A (p.Ile704=) c.2103C>A (p.Ile701=) c.2043C>A (p.Ile681=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402391A>C | CA353094422 | BAP1 | c.2087T>G (p.Ile696Ser) c.2033T>G (p.Ile678Ser) n.760T>G c.286T>G c.659T>G (p.Ile220Ser) c.2156T>G (p.Ile719Ser) c.2111T>G (p.Ile704Ser) c.2102T>G (p.Ile701Ser) c.2042T>G (p.Ile681Ser) | |
3 | g.52402391A>G | CA353094424 | BAP1 | c.2087T>C (p.Ile696Thr) c.2033T>C (p.Ile678Thr) n.760T>C c.286T>C c.659T>C (p.Ile220Thr) c.2156T>C (p.Ile719Thr) c.2111T>C (p.Ile704Thr) c.2102T>C (p.Ile701Thr) c.2042T>C (p.Ile681Thr) | |
3 | g.52402391A>T | CA353094426 | BAP1 | c.2087T>A (p.Ile696Asn) c.2033T>A (p.Ile678Asn) n.760T>A c.286T>A c.659T>A (p.Ile220Asn) c.2156T>A (p.Ile719Asn) c.2111T>A (p.Ile704Asn) c.2102T>A (p.Ile701Asn) c.2042T>A (p.Ile681Asn) | |
3 | g.52402392T>A | CA353094428 | BAP1 | c.2086A>T (p.Ile696Phe) c.2032A>T (p.Ile678Phe) n.759A>T c.285A>T c.658A>T (p.Ile220Phe) c.2155A>T (p.Ile719Phe) c.2110A>T (p.Ile704Phe) c.2101A>T (p.Ile701Phe) c.2041A>T (p.Ile681Phe) | |
3 | g.52402392T>C | CA353094430 | BAP1 | c.2086A>G (p.Ile696Val) c.2032A>G (p.Ile678Val) n.759A>G c.285A>G c.658A>G (p.Ile220Val) c.2155A>G (p.Ile719Val) c.2110A>G (p.Ile704Val) c.2101A>G (p.Ile701Val) c.2041A>G (p.Ile681Val) | ClinVar dbSNP gnomAD v4 |
3 | g.52402392T>G | CA353094432 | BAP1 | c.2086A>C (p.Ile696Leu) c.2032A>C (p.Ile678Leu) n.759A>C c.285A>C c.658A>C (p.Ile220Leu) c.2155A>C (p.Ile719Leu) c.2110A>C (p.Ile704Leu) c.2101A>C (p.Ile701Leu) c.2041A>C (p.Ile681Leu) | |
3 | g.52402392T= | CA1364834582 | BAP1 | c.2086A= (p.Ile696=) c.2032A= (p.Ile678=) n.759A= c.285A= c.658A= (p.Ile220=) c.2155A= (p.Ile719=) c.2110A= (p.Ile704=) c.2101A= (p.Ile701=) c.2041A= (p.Ile681=) | |
3 | g.52402393del | CA645529858 | BAP1 | c.2085del (p.Asn695LysfsTer?) c.2031del (p.Asn677LysfsTer?) n.758del c.284del c.657del (p.Asn219LysfsTer?) c.2154del (p.Asn718LysfsTer?) c.2109del (p.Asn703LysfsTer?) c.2100del (p.Asn700LysfsTer?) c.2040del (p.Asn680LysfsTer?) | COSMIC |
3 | g.52402393G>A | CA433886059 | BAP1 | c.2085C>T (p.Asn695=) c.2031C>T (p.Asn677=) n.758C>T c.284C>T c.657C>T (p.Asn219=) c.2154C>T (p.Asn718=) c.2109C>T (p.Asn703=) c.2100C>T (p.Asn700=) c.2040C>T (p.Asn680=) | ClinVar dbSNP |
3 | g.52402393G>C | CA353094436 | BAP1 | c.2085C>G (p.Asn695Lys) c.2031C>G (p.Asn677Lys) n.758C>G c.284C>G c.657C>G (p.Asn219Lys) c.2154C>G (p.Asn718Lys) c.2109C>G (p.Asn703Lys) c.2100C>G (p.Asn700Lys) c.2040C>G (p.Asn680Lys) | dbSNP |
3 | g.52402393G>T | CA353094435 | BAP1 | c.2085C>A (p.Asn695Lys) c.2031C>A (p.Asn677Lys) n.758C>A c.284C>A c.657C>A (p.Asn219Lys) c.2154C>A (p.Asn718Lys) c.2109C>A (p.Asn703Lys) c.2100C>A (p.Asn700Lys) c.2040C>A (p.Asn680Lys) | gnomAD v4 |
3 | g.52402394T>A | CA353094438 | BAP1 | c.2084A>T (p.Asn695Ile) c.2030A>T (p.Asn677Ile) n.757A>T c.283A>T c.656A>T (p.Asn219Ile) c.2153A>T (p.Asn718Ile) c.2108A>T (p.Asn703Ile) c.2099A>T (p.Asn700Ile) c.2039A>T (p.Asn680Ile) | |
3 | g.52402394T>C | CA353094441 | BAP1 | c.2084A>G (p.Asn695Ser) c.2030A>G (p.Asn677Ser) n.757A>G c.283A>G c.656A>G (p.Asn219Ser) c.2153A>G (p.Asn718Ser) c.2108A>G (p.Asn703Ser) c.2099A>G (p.Asn700Ser) c.2039A>G (p.Asn680Ser) | gnomAD v4 |
3 | g.52402394T>G | CA353094443 | BAP1 | c.2084A>C (p.Asn695Thr) c.2030A>C (p.Asn677Thr) n.757A>C c.283A>C c.656A>C (p.Asn219Thr) c.2153A>C (p.Asn718Thr) c.2108A>C (p.Asn703Thr) c.2099A>C (p.Asn700Thr) c.2039A>C (p.Asn680Thr) | |
3 | g.52402395T>A | CA353094446 | BAP1 | c.2083A>T (p.Asn695Tyr) c.2029A>T (p.Asn677Tyr) n.756A>T c.282A>T c.655A>T (p.Asn219Tyr) c.2152A>T (p.Asn718Tyr) c.2107A>T (p.Asn703Tyr) c.2098A>T (p.Asn700Tyr) c.2038A>T (p.Asn680Tyr) | |
3 | g.52402395T>C | CA353094448 | BAP1 | c.2083A>G (p.Asn695Asp) c.2029A>G (p.Asn677Asp) n.756A>G c.282A>G c.655A>G (p.Asn219Asp) c.2152A>G (p.Asn718Asp) c.2107A>G (p.Asn703Asp) c.2098A>G (p.Asn700Asp) c.2038A>G (p.Asn680Asp) | |
3 | g.52402395T>G | CA353094451 | BAP1 | c.2083A>C (p.Asn695His) c.2029A>C (p.Asn677His) n.756A>C c.282A>C c.655A>C (p.Asn219His) c.2152A>C (p.Asn718His) c.2107A>C (p.Asn703His) c.2098A>C (p.Asn700His) c.2038A>C (p.Asn680His) | |
3 | g.52402396_52402397del | CA2840121455 | BAP1 | c.2082_2083del (p.Asn695HisfsTer21) c.2028_2029del (p.Asn677HisfsTer21) n.755_756del c.281_282del c.654_655del (p.Asn219HisfsTer21) c.2151_2152del (p.Asn718HisfsTer21) c.2106_2107del (p.Asn703HisfsTer21) c.2097_2098del (p.Asn700HisfsTer21) c.2037_2038del (p.Asn680HisfsTer21) | |
3 | g.52402396C>A | CA353094452 | BAP1 | c.2082G>T (p.Gln694His) c.2028G>T (p.Gln676His) n.755G>T c.281G>T c.654G>T (p.Gln218His) c.2151G>T (p.Gln717His) c.2106G>T (p.Gln702His) c.2097G>T (p.Gln699His) c.2037G>T (p.Gln679His) | gnomAD v4 |
3 | g.52402396C= | CA1364834585 | BAP1 | c.2082G= (p.Gln694=) c.2028G= (p.Gln676=) n.755G= c.281G= c.654G= (p.Gln218=) c.2151G= (p.Gln717=) c.2106G= (p.Gln702=) c.2097G= (p.Gln699=) c.2037G= (p.Gln679=) | |
3 | g.52402396C>G | CA353094453 | BAP1 | c.2082G>C (p.Gln694His) c.2028G>C (p.Gln676His) n.755G>C c.281G>C c.654G>C (p.Gln218His) c.2151G>C (p.Gln717His) c.2106G>C (p.Gln702His) c.2097G>C (p.Gln699His) c.2037G>C (p.Gln679His) | COSMIC |
3 | g.52402396C>T | CA433886077 | BAP1 | c.2082G>A (p.Gln694=) c.2028G>A (p.Gln676=) n.755G>A c.281G>A c.654G>A (p.Gln218=) c.2151G>A (p.Gln717=) c.2106G>A (p.Gln702=) c.2097G>A (p.Gln699=) c.2037G>A (p.Gln679=) | ClinVar dbSNP |
3 | g.52402397T>A | CA353094454 | BAP1 | c.2081A>T (p.Gln694Leu) c.2027A>T (p.Gln676Leu) n.754A>T c.280A>T c.653A>T (p.Gln218Leu) c.2150A>T (p.Gln717Leu) c.2105A>T (p.Gln702Leu) c.2096A>T (p.Gln699Leu) c.2036A>T (p.Gln679Leu) | |
3 | g.52402397T>C | CA353094462 | BAP1 | c.2081A>G (p.Gln694Arg) c.2027A>G (p.Gln676Arg) n.754A>G c.280A>G c.653A>G (p.Gln218Arg) c.2150A>G (p.Gln717Arg) c.2105A>G (p.Gln702Arg) c.2096A>G (p.Gln699Arg) c.2036A>G (p.Gln679Arg) | |
3 | g.52402397T>G | CA353094465 | BAP1 | c.2081A>C (p.Gln694Pro) c.2027A>C (p.Gln676Pro) n.754A>C c.280A>C c.653A>C (p.Gln218Pro) c.2150A>C (p.Gln717Pro) c.2105A>C (p.Gln702Pro) c.2096A>C (p.Gln699Pro) c.2036A>C (p.Gln679Pro) | |
3 | g.52402398G>A | CA353094469 | BAP1 | c.2080C>T (p.Gln694Ter) c.2026C>T (p.Gln676Ter) n.753C>T c.279C>T c.652C>T (p.Gln218Ter) c.2149C>T (p.Gln717Ter) c.2104C>T (p.Gln702Ter) c.2095C>T (p.Gln699Ter) c.2035C>T (p.Gln679Ter) | ClinVar gnomAD v4 |
3 | g.52402398G>C | CA353094471 | BAP1 | c.2080C>G (p.Gln694Glu) c.2026C>G (p.Gln676Glu) n.753C>G c.279C>G c.652C>G (p.Gln218Glu) c.2149C>G (p.Gln717Glu) c.2104C>G (p.Gln702Glu) c.2095C>G (p.Gln699Glu) c.2035C>G (p.Gln679Glu) | |
3 | g.52402398G>T | CA353094474 | BAP1 | c.2080C>A (p.Gln694Lys) c.2026C>A (p.Gln676Lys) n.753C>A c.279C>A c.652C>A (p.Gln218Lys) c.2149C>A (p.Gln717Lys) c.2104C>A (p.Gln702Lys) c.2095C>A (p.Gln699Lys) c.2035C>A (p.Gln679Lys) | gnomAD v4 |
3 | g.52402399C>A | CA353094477 | BAP1 | c.2079G>T (p.Glu693Asp) c.2025G>T (p.Glu675Asp) n.752G>T c.278G>T c.651G>T (p.Glu217Asp) c.2148G>T (p.Glu716Asp) c.2103G>T (p.Glu701Asp) c.2094G>T (p.Glu698Asp) c.2034G>T (p.Glu678Asp) | gnomAD v4 |
3 | g.52402399C= | CA1364834589 | BAP1 | c.2079G= (p.Glu693=) c.2025G= (p.Glu675=) n.752G= c.278G= c.651G= (p.Glu217=) c.2148G= (p.Glu716=) c.2103G= (p.Glu701=) c.2094G= (p.Glu698=) c.2034G= (p.Glu678=) | |
3 | g.52402399C>G | CA353094480 | BAP1 | c.2079G>C (p.Glu693Asp) c.2025G>C (p.Glu675Asp) n.752G>C c.278G>C c.651G>C (p.Glu217Asp) c.2148G>C (p.Glu716Asp) c.2103G>C (p.Glu701Asp) c.2094G>C (p.Glu698Asp) c.2034G>C (p.Glu678Asp) | |
3 | g.52402399C>T | CA74739886 | BAP1 | c.2079G>A (p.Glu693=) c.2025G>A (p.Glu675=) n.752G>A c.278G>A c.651G>A (p.Glu217=) c.2148G>A (p.Glu716=) c.2103G>A (p.Glu701=) c.2094G>A (p.Glu698=) c.2034G>A (p.Glu678=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52402399dup | CA645529859 | BAP1 | c.2079dup (p.Gln694AlafsTer23) c.2025dup (p.Gln676AlafsTer23) n.752dup c.278dup c.651dup (p.Gln218AlafsTer23) c.2148dup (p.Gln717AlafsTer23) c.2103dup (p.Gln702AlafsTer23) c.2094dup (p.Gln699AlafsTer23) c.2034dup (p.Gln679AlafsTer23) | COSMIC |
3 | g.52402400T>A | CA353094483 | BAP1 | c.2078A>T (p.Glu693Val) c.2024A>T (p.Glu675Val) n.751A>T c.277A>T c.650A>T (p.Glu217Val) c.2147A>T (p.Glu716Val) c.2102A>T (p.Glu701Val) c.2093A>T (p.Glu698Val) c.2033A>T (p.Glu678Val) | |
3 | g.52402400T>C | CA353094486 | BAP1 | c.2078A>G (p.Glu693Gly) c.2024A>G (p.Glu675Gly) n.751A>G c.277A>G c.650A>G (p.Glu217Gly) c.2147A>G (p.Glu716Gly) c.2102A>G (p.Glu701Gly) c.2093A>G (p.Glu698Gly) c.2033A>G (p.Glu678Gly) | |
3 | g.52402400T>G | CA353094484 | BAP1 | c.2078A>C (p.Glu693Ala) c.2024A>C (p.Glu675Ala) n.751A>C c.277A>C c.650A>C (p.Glu217Ala) c.2147A>C (p.Glu716Ala) c.2102A>C (p.Glu701Ala) c.2093A>C (p.Glu698Ala) c.2033A>C (p.Glu678Ala) | |
3 | g.52402401C>A | CA353094488 | BAP1 | c.2077G>T (p.Glu693Ter) c.2023G>T (p.Glu675Ter) n.750G>T c.276G>T c.649G>T (p.Glu217Ter) c.2146G>T (p.Glu716Ter) c.2101G>T (p.Glu701Ter) c.2092G>T (p.Glu698Ter) c.2032G>T (p.Glu678Ter) | gnomAD v4 COSMIC |
3 | g.52402401C>G | CA353094490 | BAP1 | c.2077G>C (p.Glu693Gln) c.2023G>C (p.Glu675Gln) n.750G>C c.276G>C c.649G>C (p.Glu217Gln) c.2146G>C (p.Glu716Gln) c.2101G>C (p.Glu701Gln) c.2092G>C (p.Glu698Gln) c.2032G>C (p.Glu678Gln) | |
3 | g.52402401C>T | CA353094493 | BAP1 | c.2077G>A (p.Glu693Lys) c.2023G>A (p.Glu675Lys) n.750G>A c.276G>A c.649G>A (p.Glu217Lys) c.2146G>A (p.Glu716Lys) c.2101G>A (p.Glu701Lys) c.2092G>A (p.Glu698Lys) c.2032G>A (p.Glu678Lys) | gnomAD v4 |
3 | g.52402402C>A | CA433886091 | BAP1 | c.2076G>T (p.Val692=) c.2022G>T (p.Val674=) n.749G>T c.275G>T c.648G>T (p.Val216=) c.2145G>T (p.Val715=) c.2100G>T (p.Val700=) c.2091G>T (p.Val697=) c.2031G>T (p.Val677=) | gnomAD v4 |
3 | g.52402402C= | CA1364834593 | BAP1 | c.2076G= (p.Val692=) c.2022G= (p.Val674=) n.749G= c.275G= c.648G= (p.Val216=) c.2145G= (p.Val715=) c.2100G= (p.Val700=) c.2091G= (p.Val697=) c.2031G= (p.Val677=) | |
3 | g.52402402C>G | CA433886100 | BAP1 | c.2076G>C (p.Val692=) c.2022G>C (p.Val674=) n.749G>C c.275G>C c.648G>C (p.Val216=) c.2145G>C (p.Val715=) c.2100G>C (p.Val700=) c.2091G>C (p.Val697=) c.2031G>C (p.Val677=) | |
3 | g.52402402C>T | CA2436594 | BAP1 | c.2076G>A (p.Val692=) c.2022G>A (p.Val674=) n.749G>A c.275G>A c.648G>A (p.Val216=) c.2145G>A (p.Val715=) c.2100G>A (p.Val700=) c.2091G>A (p.Val697=) c.2031G>A (p.Val677=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402403A>C | CA353094497 | BAP1 | c.2075T>G (p.Val692Gly) c.2021T>G (p.Val674Gly) n.748T>G c.274T>G c.647T>G (p.Val216Gly) c.2144T>G (p.Val715Gly) c.2099T>G (p.Val700Gly) c.2090T>G (p.Val697Gly) c.2030T>G (p.Val677Gly) | dbSNP |
3 | g.52402403A>G | CA353094499 | BAP1 | c.2075T>C (p.Val692Ala) c.2021T>C (p.Val674Ala) n.748T>C c.274T>C c.647T>C (p.Val216Ala) c.2144T>C (p.Val715Ala) c.2099T>C (p.Val700Ala) c.2090T>C (p.Val697Ala) c.2030T>C (p.Val677Ala) | |
3 | g.52402403A>T | CA353094501 | BAP1 | c.2075T>A (p.Val692Glu) c.2021T>A (p.Val674Glu) n.748T>A c.274T>A c.647T>A (p.Val216Glu) c.2144T>A (p.Val715Glu) c.2099T>A (p.Val700Glu) c.2090T>A (p.Val697Glu) c.2030T>A (p.Val677Glu) | dbSNP |
3 | g.52402404C>A | CA353094503 | BAP1 | c.2074G>T (p.Val692Leu) c.2020G>T (p.Val674Leu) n.747G>T c.273G>T c.646G>T (p.Val216Leu) c.2143G>T (p.Val715Leu) c.2098G>T (p.Val700Leu) c.2089G>T (p.Val697Leu) c.2029G>T (p.Val677Leu) | gnomAD v4 |
3 | g.52402404C>G | CA353094506 | BAP1 | c.2074G>C (p.Val692Leu) c.2020G>C (p.Val674Leu) n.747G>C c.273G>C c.646G>C (p.Val216Leu) c.2143G>C (p.Val715Leu) c.2098G>C (p.Val700Leu) c.2089G>C (p.Val697Leu) c.2029G>C (p.Val677Leu) | |
3 | g.52402404C>T | CA353094509 | BAP1 | c.2074G>A (p.Val692Met) c.2020G>A (p.Val674Met) n.747G>A c.273G>A c.646G>A (p.Val216Met) c.2143G>A (p.Val715Met) c.2098G>A (p.Val700Met) c.2089G>A (p.Val697Met) c.2029G>A (p.Val677Met) | |
3 | g.52402405del | CA433886118 | BAP1 | c.2073del (p.Val692TrpfsTer?) c.2019del (p.Val674TrpfsTer?) n.746del c.272del c.645del (p.Val216TrpfsTer?) c.2142del (p.Val715TrpfsTer?) c.2097del (p.Val700TrpfsTer?) c.2088del (p.Val697TrpfsTer?) c.2028del (p.Val677TrpfsTer?) | COSMIC |
3 | g.52402405T>A | CA433886124 | BAP1 | c.2073A>T (p.Leu691=) c.2019A>T (p.Leu673=) n.746A>T c.272A>T c.645A>T (p.Leu215=) c.2142A>T (p.Leu714=) c.2097A>T (p.Leu699=) c.2088A>T (p.Leu696=) c.2028A>T (p.Leu676=) | |
3 | g.52402405T>C | CA433886120 | BAP1 | c.2073A>G (p.Leu691=) c.2019A>G (p.Leu673=) n.746A>G c.272A>G c.645A>G (p.Leu215=) c.2142A>G (p.Leu714=) c.2097A>G (p.Leu699=) c.2088A>G (p.Leu696=) c.2028A>G (p.Leu676=) | ClinVar dbSNP |
3 | g.52402405T>G | CA433886119 | BAP1 | c.2073A>C (p.Leu691=) c.2019A>C (p.Leu673=) n.746A>C c.272A>C c.645A>C (p.Leu215=) c.2142A>C (p.Leu714=) c.2097A>C (p.Leu699=) c.2088A>C (p.Leu696=) c.2028A>C (p.Leu676=) | ClinVar dbSNP |
3 | g.52402405T= | CA1364834598 | BAP1 | c.2073A= (p.Leu691=) c.2019A= (p.Leu673=) n.746A= c.272A= c.645A= (p.Leu215=) c.2142A= (p.Leu714=) c.2097A= (p.Leu699=) c.2088A= (p.Leu696=) c.2028A= (p.Leu676=) | |
3 | g.52402406del | CA433886127 | BAP1 | c.2072del (p.Leu691GlnfsTer?) c.2018del (p.Leu673GlnfsTer?) n.745del c.271del c.644del (p.Leu215GlnfsTer?) c.2141del (p.Leu714GlnfsTer?) c.2096del (p.Leu699GlnfsTer?) c.2087del (p.Leu696GlnfsTer?) c.2027del (p.Leu676GlnfsTer?) | COSMIC |
3 | g.52402406A>C | CA353094512 | BAP1 | c.2072T>G (p.Leu691Arg) c.2018T>G (p.Leu673Arg) n.745T>G c.271T>G c.644T>G (p.Leu215Arg) c.2141T>G (p.Leu714Arg) c.2096T>G (p.Leu699Arg) c.2087T>G (p.Leu696Arg) c.2027T>G (p.Leu676Arg) | |
3 | g.52402406A>G | CA353094514 | BAP1 | c.2072T>C (p.Leu691Pro) c.2018T>C (p.Leu673Pro) n.745T>C c.271T>C c.644T>C (p.Leu215Pro) c.2141T>C (p.Leu714Pro) c.2096T>C (p.Leu699Pro) c.2087T>C (p.Leu696Pro) c.2027T>C (p.Leu676Pro) | gnomAD v4 |
3 | g.52402406A>T | CA353094515 | BAP1 | c.2072T>A (p.Leu691Gln) c.2018T>A (p.Leu673Gln) n.745T>A c.271T>A c.644T>A (p.Leu215Gln) c.2141T>A (p.Leu714Gln) c.2096T>A (p.Leu699Gln) c.2087T>A (p.Leu696Gln) c.2027T>A (p.Leu676Gln) | |
3 | g.52402407G>A | CA433886128 | BAP1 | c.2071C>T (p.Leu691=) c.2017C>T (p.Leu673=) n.744C>T c.270C>T c.643C>T (p.Leu215=) c.2140C>T (p.Leu714=) c.2095C>T (p.Leu699=) c.2086C>T (p.Leu696=) c.2026C>T (p.Leu676=) | ClinVar dbSNP gnomAD v4 |
3 | g.52402407G>C | CA353094518 | BAP1 | c.2071C>G (p.Leu691Val) c.2017C>G (p.Leu673Val) n.744C>G c.270C>G c.643C>G (p.Leu215Val) c.2140C>G (p.Leu714Val) c.2095C>G (p.Leu699Val) c.2086C>G (p.Leu696Val) c.2026C>G (p.Leu676Val) | gnomAD v4 COSMIC |
3 | g.52402407G= | CA1364834602 | BAP1 | c.2071C= (p.Leu691=) c.2017C= (p.Leu673=) n.744C= c.270C= c.643C= (p.Leu215=) c.2140C= (p.Leu714=) c.2095C= (p.Leu699=) c.2086C= (p.Leu696=) c.2026C= (p.Leu676=) | |
3 | g.52402407G>T | CA353094520 | BAP1 | c.2071C>A (p.Leu691Ile) c.2017C>A (p.Leu673Ile) n.744C>A c.270C>A c.643C>A (p.Leu215Ile) c.2140C>A (p.Leu714Ile) c.2095C>A (p.Leu699Ile) c.2086C>A (p.Leu696Ile) c.2026C>A (p.Leu676Ile) | gnomAD v4 |
3 | g.52402408G>A | CA433886129 | BAP1 | c.2070C>T (p.Asn690=) c.2016C>T (p.Asn672=) n.743C>T c.269C>T c.642C>T (p.Asn214=) c.2139C>T (p.Asn713=) c.2094C>T (p.Asn698=) c.2085C>T (p.Asn695=) c.2025C>T (p.Asn675=) | ClinVar dbSNP gnomAD v4 |
3 | g.52402408G>C | CA353094523 | BAP1 | c.2070C>G (p.Asn690Lys) c.2016C>G (p.Asn672Lys) n.743C>G c.269C>G c.642C>G (p.Asn214Lys) c.2139C>G (p.Asn713Lys) c.2094C>G (p.Asn698Lys) c.2085C>G (p.Asn695Lys) c.2025C>G (p.Asn675Lys) | ClinVar dbSNP |
3 | g.52402408G= | CA1364834605 | BAP1 | c.2070C= (p.Asn690=) c.2016C= (p.Asn672=) n.743C= c.269C= c.642C= (p.Asn214=) c.2139C= (p.Asn713=) c.2094C= (p.Asn698=) c.2085C= (p.Asn695=) c.2025C= (p.Asn675=) | |
3 | g.52402408G>T | CA353094524 | BAP1 | c.2070C>A (p.Asn690Lys) c.2016C>A (p.Asn672Lys) n.743C>A c.269C>A c.642C>A (p.Asn214Lys) c.2139C>A (p.Asn713Lys) c.2094C>A (p.Asn698Lys) c.2085C>A (p.Asn695Lys) c.2025C>A (p.Asn675Lys) | ClinVar dbSNP |
3 | g.52402409T>A | CA353094527 | BAP1 | c.2069A>T (p.Asn690Ile) c.2015A>T (p.Asn672Ile) n.742A>T c.268A>T c.641A>T (p.Asn214Ile) c.2138A>T (p.Asn713Ile) c.2093A>T (p.Asn698Ile) c.2084A>T (p.Asn695Ile) c.2024A>T (p.Asn675Ile) | dbSNP gnomAD v4 |
3 | g.52402409T>C | CA353094530 | BAP1 | c.2069A>G (p.Asn690Ser) c.2015A>G (p.Asn672Ser) n.742A>G c.268A>G c.641A>G (p.Asn214Ser) c.2138A>G (p.Asn713Ser) c.2093A>G (p.Asn698Ser) c.2084A>G (p.Asn695Ser) c.2024A>G (p.Asn675Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.52402409T>G | CA353094533 | BAP1 | c.2069A>C (p.Asn690Thr) c.2015A>C (p.Asn672Thr) n.742A>C c.268A>C c.641A>C (p.Asn214Thr) c.2138A>C (p.Asn713Thr) c.2093A>C (p.Asn698Thr) c.2084A>C (p.Asn695Thr) c.2024A>C (p.Asn675Thr) | |
3 | g.52402409T= | CA1364834607 | BAP1 | c.2069A= (p.Asn690=) c.2015A= (p.Asn672=) n.742A= c.268A= c.641A= (p.Asn214=) c.2138A= (p.Asn713=) c.2093A= (p.Asn698=) c.2084A= (p.Asn695=) c.2024A= (p.Asn675=) | |
3 | g.52402410T>A | CA353094534 | BAP1 | c.2068A>T (p.Asn690Tyr) c.2014A>T (p.Asn672Tyr) n.741A>T c.267A>T c.640A>T (p.Asn214Tyr) c.2137A>T (p.Asn713Tyr) c.2092A>T (p.Asn698Tyr) c.2083A>T (p.Asn695Tyr) c.2023A>T (p.Asn675Tyr) | |
3 | g.52402410T>C | CA353094535 | BAP1 | c.2068A>G (p.Asn690Asp) c.2014A>G (p.Asn672Asp) n.741A>G c.267A>G c.640A>G (p.Asn214Asp) c.2137A>G (p.Asn713Asp) c.2092A>G (p.Asn698Asp) c.2083A>G (p.Asn695Asp) c.2023A>G (p.Asn675Asp) | ClinVar dbSNP |
3 | g.52402410T>G | CA353094537 | BAP1 | c.2068A>C (p.Asn690His) c.2014A>C (p.Asn672His) n.741A>C c.267A>C c.640A>C (p.Asn214His) c.2137A>C (p.Asn713His) c.2092A>C (p.Asn698His) c.2083A>C (p.Asn695His) c.2023A>C (p.Asn675His) | |
3 | g.52402410T= | CA1364834609 | BAP1 | c.2068A= (p.Asn690=) c.2014A= (p.Asn672=) n.741A= c.267A= c.640A= (p.Asn214=) c.2137A= (p.Asn713=) c.2092A= (p.Asn698=) c.2083A= (p.Asn695=) c.2023A= (p.Asn675=) | |
3 | g.52402411G>A | CA433886142 | BAP1 | c.2067C>T (p.Ala689=) c.2013C>T (p.Ala671=) n.740C>T c.266C>T c.639C>T (p.Ala213=) c.2136C>T (p.Ala712=) c.2091C>T (p.Ala697=) c.2082C>T (p.Ala694=) c.2022C>T (p.Ala674=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402411G>C | CA433886143 | BAP1 | c.2067C>G (p.Ala689=) c.2013C>G (p.Ala671=) n.740C>G c.266C>G c.639C>G (p.Ala213=) c.2136C>G (p.Ala712=) c.2091C>G (p.Ala697=) c.2082C>G (p.Ala694=) c.2022C>G (p.Ala674=) | |
3 | g.52402411G= | CA1364834615 | BAP1 | c.2067C= (p.Ala689=) c.2013C= (p.Ala671=) n.740C= c.266C= c.639C= (p.Ala213=) c.2136C= (p.Ala712=) c.2091C= (p.Ala697=) c.2082C= (p.Ala694=) c.2022C= (p.Ala674=) | |
3 | g.52402411G>T | CA433886144 | BAP1 | c.2067C>A (p.Ala689=) c.2013C>A (p.Ala671=) n.740C>A c.266C>A c.639C>A (p.Ala213=) c.2136C>A (p.Ala712=) c.2091C>A (p.Ala697=) c.2082C>A (p.Ala694=) c.2022C>A (p.Ala674=) | gnomAD v4 |
3 | g.52402412G>A | CA353094540 | BAP1 | c.2066C>T (p.Ala689Val) c.2012C>T (p.Ala671Val) n.739C>T c.265C>T c.638C>T (p.Ala213Val) c.2135C>T (p.Ala712Val) c.2090C>T (p.Ala697Val) c.2081C>T (p.Ala694Val) c.2021C>T (p.Ala674Val) | ClinVar gnomAD v4 |
3 | g.52402412G>C | CA2436595 | BAP1 | c.2066C>G (p.Ala689Gly) c.2012C>G (p.Ala671Gly) n.739C>G c.265C>G c.638C>G (p.Ala213Gly) c.2135C>G (p.Ala712Gly) c.2090C>G (p.Ala697Gly) c.2081C>G (p.Ala694Gly) c.2021C>G (p.Ala674Gly) | dbSNP ExAC gnomAD v2 |
3 | g.52402412G= | CA1364834620 | BAP1 | c.2066C= (p.Ala689=) c.2012C= (p.Ala671=) n.739C= c.265C= c.638C= (p.Ala213=) c.2135C= (p.Ala712=) c.2090C= (p.Ala697=) c.2081C= (p.Ala694=) c.2021C= (p.Ala674=) | |
3 | g.52402412G>T | CA353094543 | BAP1 | c.2066C>A (p.Ala689Asp) c.2012C>A (p.Ala671Asp) n.739C>A c.265C>A c.638C>A (p.Ala213Asp) c.2135C>A (p.Ala712Asp) c.2090C>A (p.Ala697Asp) c.2081C>A (p.Ala694Asp) c.2021C>A (p.Ala674Asp) | gnomAD v4 |
3 | g.52402413C>A | CA353094548 | BAP1 | c.2065G>T (p.Ala689Ser) c.2011G>T (p.Ala671Ser) n.738G>T c.264G>T c.637G>T (p.Ala213Ser) c.2134G>T (p.Ala712Ser) c.2089G>T (p.Ala697Ser) c.2080G>T (p.Ala694Ser) c.2020G>T (p.Ala674Ser) | dbSNP gnomAD v4 |
3 | g.52402413C= | CA1364834623 | BAP1 | c.2065G= (p.Ala689=) c.2011G= (p.Ala671=) n.738G= c.264G= c.637G= (p.Ala213=) c.2134G= (p.Ala712=) c.2089G= (p.Ala697=) c.2080G= (p.Ala694=) c.2020G= (p.Ala674=) | |
3 | g.52402413C>G | CA353094545 | BAP1 | c.2065G>C (p.Ala689Pro) c.2011G>C (p.Ala671Pro) n.738G>C c.264G>C c.637G>C (p.Ala213Pro) c.2134G>C (p.Ala712Pro) c.2089G>C (p.Ala697Pro) c.2080G>C (p.Ala694Pro) c.2020G>C (p.Ala674Pro) | ClinVar dbSNP |
3 | g.52402413C>T | CA353094544 | BAP1 | c.2065G>A (p.Ala689Thr) c.2011G>A (p.Ala671Thr) n.738G>A c.264G>A c.637G>A (p.Ala213Thr) c.2134G>A (p.Ala712Thr) c.2089G>A (p.Ala697Thr) c.2080G>A (p.Ala694Thr) c.2020G>A (p.Ala674Thr) | dbSNP gnomAD v4 |
3 | g.52402414C>A | CA433886153 | BAP1 | c.2064G>T (p.Leu688=) c.2010G>T (p.Leu670=) n.737G>T c.263G>T c.636G>T (p.Leu212=) c.2133G>T (p.Leu711=) c.2088G>T (p.Leu696=) c.2079G>T (p.Leu693=) c.2019G>T (p.Leu673=) | |
3 | g.52402414C>G | CA433886154 | BAP1 | c.2064G>C (p.Leu688=) c.2010G>C (p.Leu670=) n.737G>C c.263G>C c.636G>C (p.Leu212=) c.2133G>C (p.Leu711=) c.2088G>C (p.Leu696=) c.2079G>C (p.Leu693=) c.2019G>C (p.Leu673=) | |
3 | g.52402414C>T | CA433886155 | BAP1 | c.2064G>A (p.Leu688=) c.2010G>A (p.Leu670=) n.737G>A c.263G>A c.636G>A (p.Leu212=) c.2133G>A (p.Leu711=) c.2088G>A (p.Leu696=) c.2079G>A (p.Leu693=) c.2019G>A (p.Leu673=) | ClinVar dbSNP gnomAD v4 |
3 | g.52402415A>C | CA353094551 | BAP1 | c.2063T>G (p.Leu688Arg) c.2009T>G (p.Leu670Arg) n.736T>G c.262T>G c.635T>G (p.Leu212Arg) c.2132T>G (p.Leu711Arg) c.2087T>G (p.Leu696Arg) c.2078T>G (p.Leu693Arg) c.2018T>G (p.Leu673Arg) | |
3 | g.52402415A>G | CA353094552 | BAP1 | c.2063T>C (p.Leu688Pro) c.2009T>C (p.Leu670Pro) n.736T>C c.262T>C c.635T>C (p.Leu212Pro) c.2132T>C (p.Leu711Pro) c.2087T>C (p.Leu696Pro) c.2078T>C (p.Leu693Pro) c.2018T>C (p.Leu673Pro) | ClinVar gnomAD v4 |
3 | g.52402415A>T | CA353094553 | BAP1 | c.2063T>A (p.Leu688Gln) c.2009T>A (p.Leu670Gln) n.736T>A c.262T>A c.635T>A (p.Leu212Gln) c.2132T>A (p.Leu711Gln) c.2087T>A (p.Leu696Gln) c.2078T>A (p.Leu693Gln) c.2018T>A (p.Leu673Gln) | gnomAD v4 |
3 | g.52402416G>A | CA433886161 | BAP1 | c.2062C>T (p.Leu688=) c.2008C>T (p.Leu670=) n.735C>T c.261C>T c.634C>T (p.Leu212=) c.2131C>T (p.Leu711=) c.2086C>T (p.Leu696=) c.2077C>T (p.Leu693=) c.2017C>T (p.Leu673=) | ClinVar dbSNP gnomAD v4 |
3 | g.52402416G>C | CA353094554 | BAP1 | c.2062C>G (p.Leu688Val) c.2008C>G (p.Leu670Val) n.735C>G c.261C>G c.634C>G (p.Leu212Val) c.2131C>G (p.Leu711Val) c.2086C>G (p.Leu696Val) c.2077C>G (p.Leu693Val) c.2017C>G (p.Leu673Val) | |
3 | g.52402416G= | CA1364834626 | BAP1 | c.2062C= (p.Leu688=) c.2008C= (p.Leu670=) n.735C= c.261C= c.634C= (p.Leu212=) c.2131C= (p.Leu711=) c.2086C= (p.Leu696=) c.2077C= (p.Leu693=) c.2017C= (p.Leu673=) | |
3 | g.52402416G>T | CA353094556 | BAP1 | c.2062C>A (p.Leu688Met) c.2008C>A (p.Leu670Met) n.735C>A c.261C>A c.634C>A (p.Leu212Met) c.2131C>A (p.Leu711Met) c.2086C>A (p.Leu696Met) c.2077C>A (p.Leu693Met) c.2017C>A (p.Leu673Met) | gnomAD v4 |
3 | g.52402417C>A | CA353094559 | BAP1 | c.2061G>T (p.Met687Ile) c.2007G>T (p.Met669Ile) n.734G>T c.260G>T c.633G>T (p.Met211Ile) c.2130G>T (p.Met710Ile) c.2085G>T (p.Met695Ile) c.2076G>T (p.Met692Ile) c.2016G>T (p.Met672Ile) | gnomAD v4 |
3 | g.52402417C= | CA1364834630 | BAP1 | c.2061G= (p.Met687=) c.2007G= (p.Met669=) n.734G= c.260G= c.633G= (p.Met211=) c.2130G= (p.Met710=) c.2085G= (p.Met695=) c.2076G= (p.Met692=) c.2016G= (p.Met672=) | |
3 | g.52402417C>G | CA74739887 | BAP1 | c.2061G>C (p.Met687Ile) c.2007G>C (p.Met669Ile) n.734G>C c.260G>C c.633G>C (p.Met211Ile) c.2130G>C (p.Met710Ile) c.2085G>C (p.Met695Ile) c.2076G>C (p.Met692Ile) c.2016G>C (p.Met672Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.52402417C>T | CA74739888 | BAP1 | c.2061G>A (p.Met687Ile) c.2007G>A (p.Met669Ile) n.734G>A c.260G>A c.633G>A (p.Met211Ile) c.2130G>A (p.Met710Ile) c.2085G>A (p.Met695Ile) c.2076G>A (p.Met692Ile) c.2016G>A (p.Met672Ile) | ClinVar dbSNP |
3 | g.52402418A= | CA1364834636 | BAP1 | c.2060T= (p.Met687=) c.2006T= (p.Met669=) n.733T= c.259T= c.632T= (p.Met211=) c.2129T= (p.Met710=) c.2084T= (p.Met695=) c.2075T= (p.Met692=) c.2015T= (p.Met672=) | |
3 | g.52402418A>C | CA353094562 | BAP1 | c.2060T>G (p.Met687Arg) c.2006T>G (p.Met669Arg) n.733T>G c.259T>G c.632T>G (p.Met211Arg) c.2129T>G (p.Met710Arg) c.2084T>G (p.Met695Arg) c.2075T>G (p.Met692Arg) c.2015T>G (p.Met672Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.52402418A>G | CA353094565 | BAP1 | c.2060T>C (p.Met687Thr) c.2006T>C (p.Met669Thr) n.733T>C c.259T>C c.632T>C (p.Met211Thr) c.2129T>C (p.Met710Thr) c.2084T>C (p.Met695Thr) c.2075T>C (p.Met692Thr) c.2015T>C (p.Met672Thr) | ClinVar dbSNP |
3 | g.52402418A>T | CA353094568 | BAP1 | c.2060T>A (p.Met687Lys) c.2006T>A (p.Met669Lys) n.733T>A c.259T>A c.632T>A (p.Met211Lys) c.2129T>A (p.Met710Lys) c.2084T>A (p.Met695Lys) c.2075T>A (p.Met692Lys) c.2015T>A (p.Met672Lys) | |
3 | g.52402419T>A | CA353094571 | BAP1 | c.2059A>T (p.Met687Leu) c.2005A>T (p.Met669Leu) n.732A>T c.258A>T c.631A>T (p.Met211Leu) c.2128A>T (p.Met710Leu) c.2083A>T (p.Met695Leu) c.2074A>T (p.Met692Leu) c.2014A>T (p.Met672Leu) | |
3 | g.52402419T>C | CA353094574 | BAP1 | c.2059A>G (p.Met687Val) c.2005A>G (p.Met669Val) n.732A>G c.258A>G c.631A>G (p.Met211Val) c.2128A>G (p.Met710Val) c.2083A>G (p.Met695Val) c.2074A>G (p.Met692Val) c.2014A>G (p.Met672Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402419T>G | CA353094576 | BAP1 | c.2059A>C (p.Met687Leu) c.2005A>C (p.Met669Leu) n.732A>C c.258A>C c.631A>C (p.Met211Leu) c.2128A>C (p.Met710Leu) c.2083A>C (p.Met695Leu) c.2074A>C (p.Met692Leu) c.2014A>C (p.Met672Leu) | |
3 | g.52402419T= | CA1364834639 | BAP1 | c.2059A= (p.Met687=) c.2005A= (p.Met669=) n.732A= c.258A= c.631A= (p.Met211=) c.2128A= (p.Met710=) c.2083A= (p.Met695=) c.2074A= (p.Met692=) c.2014A= (p.Met672=) | |
3 | g.52402420G>A | CA433886174 | BAP1 | c.2058C>T (p.Gly686=) c.2004C>T (p.Gly668=) n.731C>T c.257C>T c.630C>T (p.Gly210=) c.2127C>T (p.Gly709=) c.2082C>T (p.Gly694=) c.2073C>T (p.Gly691=) c.2013C>T (p.Gly671=) | gnomAD v4 |
3 | g.52402420G>C | CA433886175 | BAP1 | c.2058C>G (p.Gly686=) c.2004C>G (p.Gly668=) n.731C>G c.257C>G c.630C>G (p.Gly210=) c.2127C>G (p.Gly709=) c.2082C>G (p.Gly694=) c.2073C>G (p.Gly691=) c.2013C>G (p.Gly671=) | |
3 | g.52402420G>T | CA433886176 | BAP1 | c.2058C>A (p.Gly686=) c.2004C>A (p.Gly668=) n.731C>A c.257C>A c.630C>A (p.Gly210=) c.2127C>A (p.Gly709=) c.2082C>A (p.Gly694=) c.2073C>A (p.Gly691=) c.2013C>A (p.Gly671=) | gnomAD v4 |
3 | g.52402421C>A | CA353094580 | BAP1 | c.2057G>T (p.Gly686Val) c.2003G>T (p.Gly668Val) n.730G>T c.256G>T c.629G>T (p.Gly210Val) c.2126G>T (p.Gly709Val) c.2081G>T (p.Gly694Val) c.2072G>T (p.Gly691Val) c.2012G>T (p.Gly671Val) | |
3 | g.52402421C>G | CA353094584 | BAP1 | c.2057G>C (p.Gly686Ala) c.2003G>C (p.Gly668Ala) n.730G>C c.256G>C c.629G>C (p.Gly210Ala) c.2126G>C (p.Gly709Ala) c.2081G>C (p.Gly694Ala) c.2072G>C (p.Gly691Ala) c.2012G>C (p.Gly671Ala) | |
3 | g.52402421C>T | CA353094582 | BAP1 | c.2057G>A (p.Gly686Asp) c.2003G>A (p.Gly668Asp) n.730G>A c.256G>A c.629G>A (p.Gly210Asp) c.2126G>A (p.Gly709Asp) c.2081G>A (p.Gly694Asp) c.2072G>A (p.Gly691Asp) c.2012G>A (p.Gly671Asp) | dbSNP gnomAD v4 COSMIC |
3 | g.52402422C>A | CA353094587 | BAP1 | c.2057-1G>T (n.2057-1G>T) c.2003-1G>T (n.2003-1G>T) n.730-1G>T c.256-1G>T c.629-1G>T (n.629-1G>T) c.2126-1G>T (n.2126-1G>T) c.2081-1G>T (n.2081-1G>T) c.2072-1G>T (n.2072-1G>T) c.2012-1G>T (n.2012-1G>T) | gnomAD v4 |
3 | g.52402422C= | CA1364834641 | BAP1 | c.2057-1G= (n.2057-1G=) c.2003-1G= (n.2003-1G=) n.730-1G= c.256-1G= c.629-1G= (n.629-1G=) c.2126-1G= (n.2126-1G=) c.2081-1G= (n.2081-1G=) c.2072-1G= (n.2072-1G=) c.2012-1G= (n.2012-1G=) | |
3 | g.52402422C>G | CA353094591 | BAP1 | c.2057-1G>C (n.2057-1G>C) c.2003-1G>C (n.2003-1G>C) n.730-1G>C c.256-1G>C c.629-1G>C (n.629-1G>C) c.2126-1G>C (n.2126-1G>C) c.2081-1G>C (n.2081-1G>C) c.2072-1G>C (n.2072-1G>C) c.2012-1G>C (n.2012-1G>C) | |
3 | g.52402422C>T | CA353094593 | BAP1 | c.2057-1G>A (n.2057-1G>A) c.2003-1G>A (n.2003-1G>A) n.730-1G>A c.256-1G>A c.629-1G>A (n.629-1G>A) c.2126-1G>A (n.2126-1G>A) c.2081-1G>A (n.2081-1G>A) c.2072-1G>A (n.2072-1G>A) c.2012-1G>A (n.2012-1G>A) | dbSNP gnomAD v2 |
3 | g.52402423del | CA645529860 | BAP1 | c.2057-2del (n.2057-2del) c.2003-2del (n.2003-2del) n.730-2del c.256-2del c.629-2del (n.629-2del) c.2126-2del (n.2126-2del) c.2081-2del (n.2081-2del) c.2072-2del (n.2072-2del) c.2012-2del (n.2012-2del) | COSMIC |
3 | g.52402423T>A | CA353094596 | BAP1 | c.2057-2A>T (n.2057-2A>T) c.2003-2A>T (n.2003-2A>T) n.730-2A>T c.256-2A>T c.629-2A>T (n.629-2A>T) c.2126-2A>T (n.2126-2A>T) c.2081-2A>T (n.2081-2A>T) c.2072-2A>T (n.2072-2A>T) c.2012-2A>T (n.2012-2A>T) | |
3 | g.52402423T>C | CA129101 | BAP1 | c.2057-2A>G (n.2057-2A>G) c.2003-2A>G (n.2003-2A>G) n.730-2A>G c.256-2A>G c.629-2A>G (n.629-2A>G) c.2126-2A>G (n.2126-2A>G) c.2081-2A>G (n.2081-2A>G) c.2072-2A>G (n.2072-2A>G) c.2012-2A>G (n.2012-2A>G) | ClinVar dbSNP |
3 | g.52402423T>G | CA353094598 | BAP1 | c.2057-2A>C (n.2057-2A>C) c.2003-2A>C (n.2003-2A>C) n.730-2A>C c.256-2A>C c.629-2A>C (n.629-2A>C) c.2126-2A>C (n.2126-2A>C) c.2081-2A>C (n.2081-2A>C) c.2072-2A>C (n.2072-2A>C) c.2012-2A>C (n.2012-2A>C) | ClinVar |
3 | g.52402423T= | CA1364834644 | BAP1 | c.2057-2A= (n.2057-2A=) c.2003-2A= (n.2003-2A=) n.730-2A= c.256-2A= c.629-2A= (n.629-2A=) c.2126-2A= (n.2126-2A=) c.2081-2A= (n.2081-2A=) c.2072-2A= (n.2072-2A=) c.2012-2A= (n.2012-2A=) | |
3 | g.52402424G>A | CA916081432 | BAP1 | c.2057-3C>T (n.2057-3C>T) c.2003-3C>T (n.2003-3C>T) n.730-3C>T c.256-3C>T c.629-3C>T (n.629-3C>T) c.2126-3C>T (n.2126-3C>T) c.2081-3C>T (n.2081-3C>T) c.2072-3C>T (n.2072-3C>T) c.2012-3C>T (n.2012-3C>T) | ClinVar dbSNP |
3 | g.52402424G>C | CA2580616475 | BAP1 | c.2057-3C>G (n.2057-3C>G) c.2003-3C>G (n.2003-3C>G) n.730-3C>G c.256-3C>G c.629-3C>G (n.629-3C>G) c.2126-3C>G (n.2126-3C>G) c.2081-3C>G (n.2081-3C>G) c.2072-3C>G (n.2072-3C>G) c.2012-3C>G (n.2012-3C>G) | ClinVar |
3 | g.52402424G= | CA1364834646 | BAP1 | c.2057-3C= (n.2057-3C=) c.2003-3C= (n.2003-3C=) n.730-3C= c.256-3C= c.629-3C= (n.629-3C=) c.2126-3C= (n.2126-3C=) c.2081-3C= (n.2081-3C=) c.2072-3C= (n.2072-3C=) c.2012-3C= (n.2012-3C=) | |
3 | g.52402425C>A | CA2436596 | BAP1 | c.2057-4G>T (n.2057-4G>T) c.2003-4G>T (n.2003-4G>T) n.730-4G>T c.256-4G>T c.629-4G>T (n.629-4G>T) c.2126-4G>T (n.2126-4G>T) c.2081-4G>T (n.2081-4G>T) c.2072-4G>T (n.2072-4G>T) c.2012-4G>T (n.2012-4G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.52402425C= | CA1364834649 | BAP1 | c.2057-4G= (n.2057-4G=) c.2003-4G= (n.2003-4G=) n.730-4G= c.256-4G= c.629-4G= (n.629-4G=) c.2126-4G= (n.2126-4G=) c.2081-4G= (n.2081-4G=) c.2072-4G= (n.2072-4G=) c.2012-4G= (n.2012-4G=) | |
3 | g.52402425C>G | CA2702540302 | BAP1 | c.2057-4G>C (n.2057-4G>C) c.2003-4G>C (n.2003-4G>C) n.730-4G>C c.256-4G>C c.629-4G>C (n.629-4G>C) c.2126-4G>C (n.2126-4G>C) c.2081-4G>C (n.2081-4G>C) c.2072-4G>C (n.2072-4G>C) c.2012-4G>C (n.2012-4G>C) | dbSNP |
3 | g.52402425C>T | CA2436597 | BAP1 | c.2057-4G>A (n.2057-4G>A) c.2003-4G>A (n.2003-4G>A) n.730-4G>A c.256-4G>A c.629-4G>A (n.629-4G>A) c.2126-4G>A (n.2126-4G>A) c.2081-4G>A (n.2081-4G>A) c.2072-4G>A (n.2072-4G>A) c.2012-4G>A (n.2012-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402426G>A | CA2436598 | BAP1 | c.2057-5C>T (n.2057-5C>T) c.2003-5C>T (n.2003-5C>T) n.730-5C>T c.256-5C>T c.629-5C>T (n.629-5C>T) c.2126-5C>T (n.2126-5C>T) c.2081-5C>T (n.2081-5C>T) c.2072-5C>T (n.2072-5C>T) c.2012-5C>T (n.2012-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402426G>C | CA645529861 | BAP1 | c.2057-5C>G (n.2057-5C>G) c.2003-5C>G (n.2003-5C>G) n.730-5C>G c.256-5C>G c.629-5C>G (n.629-5C>G) c.2126-5C>G (n.2126-5C>G) c.2081-5C>G (n.2081-5C>G) c.2072-5C>G (n.2072-5C>G) c.2012-5C>G (n.2012-5C>G) | ClinVar gnomAD v4 COSMIC |
3 | g.52402426G= | CA1364834654 | BAP1 | c.2057-5C= (n.2057-5C=) c.2003-5C= (n.2003-5C=) n.730-5C= c.256-5C= c.629-5C= (n.629-5C=) c.2126-5C= (n.2126-5C=) c.2081-5C= (n.2081-5C=) c.2072-5C= (n.2072-5C=) c.2012-5C= (n.2012-5C=) | |
3 | g.52402426G>T | CA2666006578 | BAP1 | c.2057-5C>A (n.2057-5C>A) c.2003-5C>A (n.2003-5C>A) n.730-5C>A c.256-5C>A c.629-5C>A (n.629-5C>A) c.2126-5C>A (n.2126-5C>A) c.2081-5C>A (n.2081-5C>A) c.2072-5C>A (n.2072-5C>A) c.2012-5C>A (n.2012-5C>A) | gnomAD v4 |
3 | g.52402427A>T | CA2838871972 | BAP1 | c.2057-6T>A (n.2057-6T>A) c.2003-6T>A (n.2003-6T>A) n.730-6T>A c.256-6T>A c.629-6T>A (n.629-6T>A) c.2126-6T>A (n.2126-6T>A) c.2081-6T>A (n.2081-6T>A) c.2072-6T>A (n.2072-6T>A) c.2012-6T>A (n.2012-6T>A) | |
3 | g.52402429G>A | CA2573137273 | BAP1 | c.2057-8C>T (n.2057-8C>T) c.2003-8C>T (n.2003-8C>T) n.730-8C>T c.256-8C>T c.629-8C>T (n.629-8C>T) c.2126-8C>T (n.2126-8C>T) c.2081-8C>T (n.2081-8C>T) c.2072-8C>T (n.2072-8C>T) c.2012-8C>T (n.2012-8C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.52402429G>C | CA2580070167 | BAP1 | c.2057-8C>G (n.2057-8C>G) c.2003-8C>G (n.2003-8C>G) n.730-8C>G c.256-8C>G c.629-8C>G (n.629-8C>G) c.2126-8C>G (n.2126-8C>G) c.2081-8C>G (n.2081-8C>G) c.2072-8C>G (n.2072-8C>G) c.2012-8C>G (n.2012-8C>G) | ClinVar |
3 | g.52402429G>T | CA2666006579 | BAP1 | c.2057-8C>A (n.2057-8C>A) c.2003-8C>A (n.2003-8C>A) n.730-8C>A c.256-8C>A c.629-8C>A (n.629-8C>A) c.2126-8C>A (n.2126-8C>A) c.2081-8C>A (n.2081-8C>A) c.2072-8C>A (n.2072-8C>A) c.2012-8C>A (n.2012-8C>A) | gnomAD v4 |
3 | g.52402431G>A | CA2580070168 | BAP1 | c.2057-10C>T (n.2057-10C>T) c.2003-10C>T (n.2003-10C>T) n.730-10C>T c.256-10C>T c.629-10C>T (n.629-10C>T) c.2126-10C>T (n.2126-10C>T) c.2081-10C>T (n.2081-10C>T) c.2072-10C>T (n.2072-10C>T) c.2012-10C>T (n.2012-10C>T) | ClinVar gnomAD v4 |
3 | g.52402431G>T | CA2666006582 | BAP1 | c.2057-10C>A (n.2057-10C>A) c.2003-10C>A (n.2003-10C>A) n.730-10C>A c.256-10C>A c.629-10C>A (n.629-10C>A) c.2126-10C>A (n.2126-10C>A) c.2081-10C>A (n.2081-10C>A) c.2072-10C>A (n.2072-10C>A) c.2012-10C>A (n.2012-10C>A) | gnomAD v4 |
3 | g.52402432G>A | CA1047968435 | BAP1 | c.2057-11C>T (n.2057-11C>T) c.2003-11C>T (n.2003-11C>T) n.730-11C>T c.256-11C>T c.629-11C>T (n.629-11C>T) c.2126-11C>T (n.2126-11C>T) c.2081-11C>T (n.2081-11C>T) c.2072-11C>T (n.2072-11C>T) c.2012-11C>T (n.2012-11C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.52402432G= | CA1364834656 | BAP1 | c.2057-11C= (n.2057-11C=) c.2003-11C= (n.2003-11C=) n.730-11C= c.256-11C= c.629-11C= (n.629-11C=) c.2126-11C= (n.2126-11C=) c.2081-11C= (n.2081-11C=) c.2072-11C= (n.2072-11C=) c.2012-11C= (n.2012-11C=) | |
3 | g.52402432G>T | CA2666006586 | BAP1 | c.2057-11C>A (n.2057-11C>A) c.2003-11C>A (n.2003-11C>A) n.730-11C>A c.256-11C>A c.629-11C>A (n.629-11C>A) c.2126-11C>A (n.2126-11C>A) c.2081-11C>A (n.2081-11C>A) c.2072-11C>A (n.2072-11C>A) c.2012-11C>A (n.2012-11C>A) | gnomAD v4 |
3 | g.52402432_52402433delinsGT | CA1364834657 | BAP1 | c.2057-12_2057-11delinsAC (n.2057-12_2057-11delinsAC) c.2003-12_2003-11delinsAC (n.2003-12_2003-11delinsAC) n.730-12_730-11delinsAC c.256-12_256-11delinsAC c.629-12_629-11delinsAC (n.629-12_629-11delinsAC) c.2126-12_2126-11delinsAC (n.2126-12_2126-11delinsAC) c.2081-12_2081-11delinsAC (n.2081-12_2081-11delinsAC) c.2072-12_2072-11delinsAC (n.2072-12_2072-11delinsAC) c.2012-12_2012-11delinsAC (n.2012-12_2012-11delinsAC) | |
3 | g.52402433del | CA2436599 | BAP1 | c.2057-12del (n.2057-12del) c.2003-12del (n.2003-12del) n.730-12del c.256-12del c.629-12del (n.629-12del) c.2126-12del (n.2126-12del) c.2081-12del (n.2081-12del) c.2072-12del (n.2072-12del) c.2012-12del (n.2012-12del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52402433T>A | CA2666006594 | BAP1 | c.2057-12A>T (n.2057-12A>T) c.2003-12A>T (n.2003-12A>T) n.730-12A>T c.256-12A>T c.629-12A>T (n.629-12A>T) c.2126-12A>T (n.2126-12A>T) c.2081-12A>T (n.2081-12A>T) c.2072-12A>T (n.2072-12A>T) c.2012-12A>T (n.2012-12A>T) | gnomAD v4 |
3 | g.52402433T>C | CA74739897 | BAP1 | c.2057-12A>G (n.2057-12A>G) c.2003-12A>G (n.2003-12A>G) n.730-12A>G c.256-12A>G c.629-12A>G (n.629-12A>G) c.2126-12A>G (n.2126-12A>G) c.2081-12A>G (n.2081-12A>G) c.2072-12A>G (n.2072-12A>G) c.2012-12A>G (n.2012-12A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402433T>G | CA2580070169 | BAP1 | c.2057-12A>C (n.2057-12A>C) c.2003-12A>C (n.2003-12A>C) n.730-12A>C c.256-12A>C c.629-12A>C (n.629-12A>C) c.2126-12A>C (n.2126-12A>C) c.2081-12A>C (n.2081-12A>C) c.2072-12A>C (n.2072-12A>C) c.2012-12A>C (n.2012-12A>C) | ClinVar |
3 | g.52402433T= | CA1364834659 | BAP1 | c.2057-12A= (n.2057-12A=) c.2003-12A= (n.2003-12A=) n.730-12A= c.256-12A= c.629-12A= (n.629-12A=) c.2126-12A= (n.2126-12A=) c.2081-12A= (n.2081-12A=) c.2072-12A= (n.2072-12A=) c.2012-12A= (n.2012-12A=) | |
3 | g.52402434A>G | CA2666006597 | BAP1 | c.2057-13T>C (n.2057-13T>C) c.2003-13T>C (n.2003-13T>C) n.730-13T>C c.256-13T>C c.629-13T>C (n.629-13T>C) c.2126-13T>C (n.2126-13T>C) c.2081-13T>C (n.2081-13T>C) c.2072-13T>C (n.2072-13T>C) c.2012-13T>C (n.2012-13T>C) | gnomAD v4 |
3 | g.52402435G>T | CA2666006599 | BAP1 | c.2057-14C>A (n.2057-14C>A) c.2003-14C>A (n.2003-14C>A) n.730-14C>A c.256-14C>A c.629-14C>A (n.629-14C>A) c.2126-14C>A (n.2126-14C>A) c.2081-14C>A (n.2081-14C>A) c.2072-14C>A (n.2072-14C>A) c.2012-14C>A (n.2012-14C>A) | gnomAD v4 |
3 | g.52402436A>T | CA2702822620 | BAP1 | c.2057-15T>A (n.2057-15T>A) c.2003-15T>A (n.2003-15T>A) n.730-15T>A c.256-15T>A c.629-15T>A (n.629-15T>A) c.2126-15T>A (n.2126-15T>A) c.2081-15T>A (n.2081-15T>A) c.2072-15T>A (n.2072-15T>A) c.2012-15T>A (n.2012-15T>A) | dbSNP |
3 | g.52402437G>A | CA658683341 | BAP1 | c.2057-16C>T (n.2057-16C>T) c.2003-16C>T (n.2003-16C>T) n.730-16C>T c.256-16C>T c.629-16C>T (n.629-16C>T) c.2126-16C>T (n.2126-16C>T) c.2081-16C>T (n.2081-16C>T) c.2072-16C>T (n.2072-16C>T) c.2012-16C>T (n.2012-16C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.52402437G>C | CA74739900 | BAP1 | c.2057-16C>G (n.2057-16C>G) c.2003-16C>G (n.2003-16C>G) n.730-16C>G c.256-16C>G c.629-16C>G (n.629-16C>G) c.2126-16C>G (n.2126-16C>G) c.2081-16C>G (n.2081-16C>G) c.2072-16C>G (n.2072-16C>G) c.2012-16C>G (n.2012-16C>G) | dbSNP |
3 | g.52402437G= | CA1364834661 | BAP1 | c.2057-16C= (n.2057-16C=) c.2003-16C= (n.2003-16C=) n.730-16C= c.256-16C= c.629-16C= (n.629-16C=) c.2126-16C= (n.2126-16C=) c.2081-16C= (n.2081-16C=) c.2072-16C= (n.2072-16C=) c.2012-16C= (n.2012-16C=) | |
3 | g.52402438A= | CA1364834664 | BAP1 | c.2057-17T= (n.2057-17T=) c.2003-17T= (n.2003-17T=) n.730-17T= c.256-17T= c.629-17T= (n.629-17T=) c.2126-17T= (n.2126-17T=) c.2081-17T= (n.2081-17T=) c.2072-17T= (n.2072-17T=) c.2012-17T= (n.2012-17T=) | |
3 | g.52402438A>C | CA913188113 | BAP1 | c.2057-17T>G (n.2057-17T>G) c.2003-17T>G (n.2003-17T>G) n.730-17T>G c.256-17T>G c.629-17T>G (n.629-17T>G) c.2126-17T>G (n.2126-17T>G) c.2081-17T>G (n.2081-17T>G) c.2072-17T>G (n.2072-17T>G) c.2012-17T>G (n.2012-17T>G) | ClinVar dbSNP gnomAD v4 |
3 | g.52402438A>G | CA2666006608 | BAP1 | c.2057-17T>C (n.2057-17T>C) c.2003-17T>C (n.2003-17T>C) n.730-17T>C c.256-17T>C c.629-17T>C (n.629-17T>C) c.2126-17T>C (n.2126-17T>C) c.2081-17T>C (n.2081-17T>C) c.2072-17T>C (n.2072-17T>C) c.2012-17T>C (n.2012-17T>C) | gnomAD v4 |
3 | g.52402439C>A | CA2666006614 | BAP1 | c.2057-18G>T (n.2057-18G>T) c.2003-18G>T (n.2003-18G>T) n.730-18G>T c.256-18G>T c.629-18G>T (n.629-18G>T) c.2126-18G>T (n.2126-18G>T) c.2081-18G>T (n.2081-18G>T) c.2072-18G>T (n.2072-18G>T) c.2012-18G>T (n.2012-18G>T) | gnomAD v4 |
3 | g.52402439C= | CA1364834666 | BAP1 | c.2057-18G= (n.2057-18G=) c.2003-18G= (n.2003-18G=) n.730-18G= c.256-18G= c.629-18G= (n.629-18G=) c.2126-18G= (n.2126-18G=) c.2081-18G= (n.2081-18G=) c.2072-18G= (n.2072-18G=) c.2012-18G= (n.2012-18G=) | |
3 | g.52402439C>G | CA2577782153 | BAP1 | c.2057-18G>C (n.2057-18G>C) c.2003-18G>C (n.2003-18G>C) n.730-18G>C c.256-18G>C c.629-18G>C (n.629-18G>C) c.2126-18G>C (n.2126-18G>C) c.2081-18G>C (n.2081-18G>C) c.2072-18G>C (n.2072-18G>C) c.2012-18G>C (n.2012-18G>C) | ClinVar dbSNP |
3 | g.52402439C>T | CA2436600 | BAP1 | c.2057-18G>A (n.2057-18G>A) c.2003-18G>A (n.2003-18G>A) n.730-18G>A c.256-18G>A c.629-18G>A (n.629-18G>A) c.2126-18G>A (n.2126-18G>A) c.2081-18G>A (n.2081-18G>A) c.2072-18G>A (n.2072-18G>A) c.2012-18G>A (n.2012-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.52402440C>A | CA2666006621 | BAP1 | c.2057-19G>T (n.2057-19G>T) c.2003-19G>T (n.2003-19G>T) n.730-19G>T c.256-19G>T c.629-19G>T (n.629-19G>T) c.2126-19G>T (n.2126-19G>T) c.2081-19G>T (n.2081-19G>T) c.2072-19G>T (n.2072-19G>T) c.2012-19G>T (n.2012-19G>T) | gnomAD v4 |
3 | g.52402440C= | CA1364834668 | BAP1 | c.2057-19G= (n.2057-19G=) c.2003-19G= (n.2003-19G=) n.730-19G= c.256-19G= c.629-19G= (n.629-19G=) c.2126-19G= (n.2126-19G=) c.2081-19G= (n.2081-19G=) c.2072-19G= (n.2072-19G=) c.2012-19G= (n.2012-19G=) | |
3 | g.52402440C>T | CA543056468 | BAP1 | c.2057-19G>A (n.2057-19G>A) c.2003-19G>A (n.2003-19G>A) n.730-19G>A c.256-19G>A c.629-19G>A (n.629-19G>A) c.2126-19G>A (n.2126-19G>A) c.2081-19G>A (n.2081-19G>A) c.2072-19G>A (n.2072-19G>A) c.2012-19G>A (n.2012-19G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402441C>A | CA2666006631 | BAP1 | c.2057-20G>T (n.2057-20G>T) c.2003-20G>T (n.2003-20G>T) n.730-20G>T c.256-20G>T c.629-20G>T (n.629-20G>T) c.2126-20G>T (n.2126-20G>T) c.2081-20G>T (n.2081-20G>T) c.2072-20G>T (n.2072-20G>T) c.2012-20G>T (n.2012-20G>T) | gnomAD v4 |
3 | g.52402441C= | CA1364834671 | BAP1 | c.2057-20G= (n.2057-20G=) c.2003-20G= (n.2003-20G=) n.730-20G= c.256-20G= c.629-20G= (n.629-20G=) c.2126-20G= (n.2126-20G=) c.2081-20G= (n.2081-20G=) c.2072-20G= (n.2072-20G=) c.2012-20G= (n.2012-20G=) | |
3 | g.52402441C>T | CA1139658107 | BAP1 | c.2057-20G>A (n.2057-20G>A) c.2003-20G>A (n.2003-20G>A) n.730-20G>A c.256-20G>A c.629-20G>A (n.629-20G>A) c.2126-20G>A (n.2126-20G>A) c.2081-20G>A (n.2081-20G>A) c.2072-20G>A (n.2072-20G>A) c.2012-20G>A (n.2012-20G>A) | ClinVar dbSNP |
3 | g.52402441_52402442delinsCT | CA1364834670 | BAP1 | c.2057-21_2057-20delinsAG (n.2057-21_2057-20delinsAG) c.2003-21_2003-20delinsAG (n.2003-21_2003-20delinsAG) n.730-21_730-20delinsAG c.256-21_256-20delinsAG c.629-21_629-20delinsAG (n.629-21_629-20delinsAG) c.2126-21_2126-20delinsAG (n.2126-21_2126-20delinsAG) c.2081-21_2081-20delinsAG (n.2081-21_2081-20delinsAG) c.2072-21_2072-20delinsAG (n.2072-21_2072-20delinsAG) c.2012-21_2012-20delinsAG (n.2012-21_2012-20delinsAG) | |
3 | g.52402442T>A | CA2666006654 | BAP1 | c.2057-21A>T (n.2057-21A>T) c.2003-21A>T (n.2003-21A>T) n.730-21A>T c.256-21A>T c.629-21A>T (n.629-21A>T) c.2126-21A>T (n.2126-21A>T) c.2081-21A>T (n.2081-21A>T) c.2072-21A>T (n.2072-21A>T) c.2012-21A>T (n.2012-21A>T) | gnomAD v4 |
3 | g.52402442T>C | CA2840121458 | BAP1 | c.2057-21A>G (n.2057-21A>G) c.2003-21A>G (n.2003-21A>G) n.730-21A>G c.256-21A>G c.629-21A>G (n.629-21A>G) c.2126-21A>G (n.2126-21A>G) c.2081-21A>G (n.2081-21A>G) c.2072-21A>G (n.2072-21A>G) c.2012-21A>G (n.2012-21A>G) | |
3 | g.52402443del | CA543056469 | BAP1 | c.2057-21del (n.2057-21del) c.2003-21del (n.2003-21del) n.730-21del c.256-21del c.629-21del (n.629-21del) c.2126-21del (n.2126-21del) c.2081-21del (n.2081-21del) c.2072-21del (n.2072-21del) c.2012-21del (n.2012-21del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402443T>C | CA2840121459 | BAP1 | c.2057-22A>G (n.2057-22A>G) c.2003-22A>G (n.2003-22A>G) n.730-22A>G c.256-22A>G c.629-22A>G (n.629-22A>G) c.2126-22A>G (n.2126-22A>G) c.2081-22A>G (n.2081-22A>G) c.2072-22A>G (n.2072-22A>G) c.2012-22A>G (n.2012-22A>G) | |
3 | g.52402443T>G | CA235380 | BAP1 | c.2057-22A>C (n.2057-22A>C) c.2003-22A>C (n.2003-22A>C) n.730-22A>C c.256-22A>C c.629-22A>C (n.629-22A>C) c.2126-22A>C (n.2126-22A>C) c.2081-22A>C (n.2081-22A>C) c.2072-22A>C (n.2072-22A>C) c.2012-22A>C (n.2012-22A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402443T= | CA1364834675 | BAP1 | c.2057-22A= (n.2057-22A=) c.2003-22A= (n.2003-22A=) n.730-22A= c.256-22A= c.629-22A= (n.629-22A=) c.2126-22A= (n.2126-22A=) c.2081-22A= (n.2081-22A=) c.2072-22A= (n.2072-22A=) c.2012-22A= (n.2012-22A=) | |
3 | g.52402444G>A | CA543056470 | BAP1 | c.2057-23C>T (n.2057-23C>T) c.2003-23C>T (n.2003-23C>T) n.730-23C>T c.256-23C>T c.629-23C>T (n.629-23C>T) c.2126-23C>T (n.2126-23C>T) c.2081-23C>T (n.2081-23C>T) c.2072-23C>T (n.2072-23C>T) c.2012-23C>T (n.2012-23C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402444G= | CA1364834678 | BAP1 | c.2057-23C= (n.2057-23C=) c.2003-23C= (n.2003-23C=) n.730-23C= c.256-23C= c.629-23C= (n.629-23C=) c.2126-23C= (n.2126-23C=) c.2081-23C= (n.2081-23C=) c.2072-23C= (n.2072-23C=) c.2012-23C= (n.2012-23C=) | |
3 | g.52402444G>T | CA2666006663 | BAP1 | c.2057-23C>A (n.2057-23C>A) c.2003-23C>A (n.2003-23C>A) n.730-23C>A c.256-23C>A c.629-23C>A (n.629-23C>A) c.2126-23C>A (n.2126-23C>A) c.2081-23C>A (n.2081-23C>A) c.2072-23C>A (n.2072-23C>A) c.2012-23C>A (n.2012-23C>A) | gnomAD v4 |
3 | g.52402445A>G | CA2577782159 | BAP1 | c.2057-24T>C (n.2057-24T>C) c.2003-24T>C (n.2003-24T>C) n.730-24T>C c.256-24T>C c.629-24T>C (n.629-24T>C) c.2126-24T>C (n.2126-24T>C) c.2081-24T>C (n.2081-24T>C) c.2072-24T>C (n.2072-24T>C) c.2012-24T>C (n.2012-24T>C) | gnomAD v4 |
3 | g.52402446G>A | CA2702822625 | BAP1 | c.2057-25C>T (n.2057-25C>T) c.2003-25C>T (n.2003-25C>T) n.730-25C>T c.256-25C>T c.629-25C>T (n.629-25C>T) c.2126-25C>T (n.2126-25C>T) c.2081-25C>T (n.2081-25C>T) c.2072-25C>T (n.2072-25C>T) c.2012-25C>T (n.2012-25C>T) | dbSNP |
3 | g.52402448_52402467del | CA2666006666 | BAP1 | c.2057-44_2057-25del (n.2057-44_2057-25del) c.2003-44_2003-25del (n.2003-44_2003-25del) n.730-44_730-25del c.256-44_256-25del c.629-44_629-25del (n.629-44_629-25del) c.2126-44_2126-25del (n.2126-44_2126-25del) c.2081-44_2081-25del (n.2081-44_2081-25del) c.2072-44_2072-25del (n.2072-44_2072-25del) c.2012-44_2012-25del (n.2012-44_2012-25del) | gnomAD v4 |
3 | g.52402447_52402471del | CA2577782162 | BAP1 | c.2057-49_2057-25del (n.2057-49_2057-25del) c.2003-49_2003-25del (n.2003-49_2003-25del) n.730-49_730-25del c.256-49_256-25del c.629-49_629-25del (n.629-49_629-25del) c.2126-49_2126-25del (n.2126-49_2126-25del) c.2081-49_2081-25del (n.2081-49_2081-25del) c.2072-49_2072-25del (n.2072-49_2072-25del) c.2012-49_2012-25del (n.2012-49_2012-25del) | gnomAD v4 |
3 | g.52402447C>A | CA2666006678 | BAP1 | c.2057-26G>T (n.2057-26G>T) c.2003-26G>T (n.2003-26G>T) n.730-26G>T c.256-26G>T c.629-26G>T (n.629-26G>T) c.2126-26G>T (n.2126-26G>T) c.2081-26G>T (n.2081-26G>T) c.2072-26G>T (n.2072-26G>T) c.2012-26G>T (n.2012-26G>T) | gnomAD v4 |
3 | g.52402447C= | CA1364834680 | BAP1 | c.2057-26G= (n.2057-26G=) c.2003-26G= (n.2003-26G=) n.730-26G= c.256-26G= c.629-26G= (n.629-26G=) c.2126-26G= (n.2126-26G=) c.2081-26G= (n.2081-26G=) c.2072-26G= (n.2072-26G=) c.2012-26G= (n.2012-26G=) | |
3 | g.52402447C>G | CA543056471 | BAP1 | c.2057-26G>C (n.2057-26G>C) c.2003-26G>C (n.2003-26G>C) n.730-26G>C c.256-26G>C c.629-26G>C (n.629-26G>C) c.2126-26G>C (n.2126-26G>C) c.2081-26G>C (n.2081-26G>C) c.2072-26G>C (n.2072-26G>C) c.2012-26G>C (n.2012-26G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402447C>T | CA543056472 | BAP1 | c.2057-26G>A (n.2057-26G>A) c.2003-26G>A (n.2003-26G>A) n.730-26G>A c.256-26G>A c.629-26G>A (n.629-26G>A) c.2126-26G>A (n.2126-26G>A) c.2081-26G>A (n.2081-26G>A) c.2072-26G>A (n.2072-26G>A) c.2012-26G>A (n.2012-26G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402451_52402471del | CA2666006677 | BAP1 | c.2057-46_2057-26del (n.2057-46_2057-26del) c.2003-46_2003-26del (n.2003-46_2003-26del) n.730-46_730-26del c.256-46_256-26del c.629-46_629-26del (n.629-46_629-26del) c.2126-46_2126-26del (n.2126-46_2126-26del) c.2081-46_2081-26del (n.2081-46_2081-26del) c.2072-46_2072-26del (n.2072-46_2072-26del) c.2012-46_2012-26del (n.2012-46_2012-26del) | gnomAD v4 |
3 | g.52402448A= | CA1364834681 | BAP1 | c.2057-27T= (n.2057-27T=) c.2003-27T= (n.2003-27T=) n.730-27T= c.256-27T= c.629-27T= (n.629-27T=) c.2126-27T= (n.2126-27T=) c.2081-27T= (n.2081-27T=) c.2072-27T= (n.2072-27T=) c.2012-27T= (n.2012-27T=) | |
3 | g.52402448A>G | CA1364834682 | BAP1 | c.2057-27T>C (n.2057-27T>C) c.2003-27T>C (n.2003-27T>C) n.730-27T>C c.256-27T>C c.629-27T>C (n.629-27T>C) c.2126-27T>C (n.2126-27T>C) c.2081-27T>C (n.2081-27T>C) c.2072-27T>C (n.2072-27T>C) c.2012-27T>C (n.2012-27T>C) | dbSNP gnomAD v4 |
3 | g.52402448A>T | CA2666006679 | BAP1 | c.2057-27T>A (n.2057-27T>A) c.2003-27T>A (n.2003-27T>A) n.730-27T>A c.256-27T>A c.629-27T>A (n.629-27T>A) c.2126-27T>A (n.2126-27T>A) c.2081-27T>A (n.2081-27T>A) c.2072-27T>A (n.2072-27T>A) c.2012-27T>A (n.2012-27T>A) | gnomAD v4 |
3 | g.52402449G>T | CA2666006682 | BAP1 | c.2057-28C>A (n.2057-28C>A) c.2003-28C>A (n.2003-28C>A) n.730-28C>A c.256-28C>A c.629-28C>A (n.629-28C>A) c.2126-28C>A (n.2126-28C>A) c.2081-28C>A (n.2081-28C>A) c.2072-28C>A (n.2072-28C>A) c.2012-28C>A (n.2012-28C>A) | gnomAD v4 |
3 | g.52402450G>A | CA2522099558 | BAP1 | c.2057-29C>T (n.2057-29C>T) c.2003-29C>T (n.2003-29C>T) n.730-29C>T c.256-29C>T c.629-29C>T (n.629-29C>T) c.2126-29C>T (n.2126-29C>T) c.2081-29C>T (n.2081-29C>T) c.2072-29C>T (n.2072-29C>T) c.2012-29C>T (n.2012-29C>T) | gnomAD v4 |
3 | g.52402450G>T | CA2666006686 | BAP1 | c.2057-29C>A (n.2057-29C>A) c.2003-29C>A (n.2003-29C>A) n.730-29C>A c.256-29C>A c.629-29C>A (n.629-29C>A) c.2126-29C>A (n.2126-29C>A) c.2081-29C>A (n.2081-29C>A) c.2072-29C>A (n.2072-29C>A) c.2012-29C>A (n.2012-29C>A) | gnomAD v4 |
3 | g.52402451T>A | CA1364834684 | BAP1 | c.2057-30A>T (n.2057-30A>T) c.2003-30A>T (n.2003-30A>T) n.730-30A>T c.256-30A>T c.629-30A>T (n.629-30A>T) c.2126-30A>T (n.2126-30A>T) c.2081-30A>T (n.2081-30A>T) c.2072-30A>T (n.2072-30A>T) c.2012-30A>T (n.2012-30A>T) | dbSNP |
3 | g.52402451T>C | CA2666006689 | BAP1 | c.2057-30A>G (n.2057-30A>G) c.2003-30A>G (n.2003-30A>G) n.730-30A>G c.256-30A>G c.629-30A>G (n.629-30A>G) c.2126-30A>G (n.2126-30A>G) c.2081-30A>G (n.2081-30A>G) c.2072-30A>G (n.2072-30A>G) c.2012-30A>G (n.2012-30A>G) | gnomAD v4 |
3 | g.52402451T= | CA1364834683 | BAP1 | c.2057-30A= (n.2057-30A=) c.2003-30A= (n.2003-30A=) n.730-30A= c.256-30A= c.629-30A= (n.629-30A=) c.2126-30A= (n.2126-30A=) c.2081-30A= (n.2081-30A=) c.2072-30A= (n.2072-30A=) c.2012-30A= (n.2012-30A=) | |
3 | g.52402452G>A | CA2666006692 | BAP1 | c.2057-31C>T (n.2057-31C>T) c.2003-31C>T (n.2003-31C>T) n.730-31C>T c.256-31C>T c.629-31C>T (n.629-31C>T) c.2126-31C>T (n.2126-31C>T) c.2081-31C>T (n.2081-31C>T) c.2072-31C>T (n.2072-31C>T) c.2012-31C>T (n.2012-31C>T) | dbSNP gnomAD v4 |