Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.52402588_52402616del | CA645529862 | BAP1 | c.2047_2056+19del c.1993_2002+19del n.720_729+19del c.246_255+19del c.619_628+19del c.2116_2125+19del c.2071_2080+19del c.2062_2071+19del c.2002_2011+19del | COSMIC |
3 | g.52402604_52402676del | CA645529863 | BAP1 | c.1984_2056del c.1930_2002del n.657_729del c.183_255del c.556_628del c.2053_2125del c.2008_2080del c.1999_2071del c.1939_2011del | COSMIC |
3 | g.52402608_52402623del | CA2573137279 | BAP1 | c.2036_2051del (p.Ile679ArgfsTer8) c.1982_1997del (p.Ile661ArgfsTer8) n.709_724del c.235_250del c.608_623del (p.Ile203ArgfsTer8) c.2105_2120del (p.Ile702ArgfsTer8) c.2060_2075del (p.Ile687ArgfsTer8) c.2051_2066del (p.Ile684ArgfsTer8) c.1991_2006del (p.Ile664ArgfsTer8) | dbSNP |
3 | g.52402608G>A | CA129103 | BAP1 | c.2050C>T (p.Gln684Ter) c.1996C>T (p.Gln666Ter) n.723C>T c.249C>T c.622C>T (p.Gln208Ter) c.2119C>T (p.Gln707Ter) c.2074C>T (p.Gln692Ter) c.2065C>T (p.Gln689Ter) c.2005C>T (p.Gln669Ter) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
3 | g.52402608G>C | CA353096129 | BAP1 | c.2050C>G (p.Gln684Glu) c.1996C>G (p.Gln666Glu) n.723C>G c.249C>G c.622C>G (p.Gln208Glu) c.2119C>G (p.Gln707Glu) c.2074C>G (p.Gln692Glu) c.2065C>G (p.Gln689Glu) c.2005C>G (p.Gln669Glu) | dbSNP gnomAD v4 |
3 | g.52402608G= | CA1364834827 | BAP1 | c.2050C= (p.Gln684=) c.1996C= (p.Gln666=) n.723C= c.249C= c.622C= (p.Gln208=) c.2119C= (p.Gln707=) c.2074C= (p.Gln692=) c.2065C= (p.Gln689=) c.2005C= (p.Gln669=) | |
3 | g.52402608G>T | CA353096130 | BAP1 | c.2050C>A (p.Gln684Lys) c.1996C>A (p.Gln666Lys) n.723C>A c.249C>A c.622C>A (p.Gln208Lys) c.2119C>A (p.Gln707Lys) c.2074C>A (p.Gln692Lys) c.2065C>A (p.Gln689Lys) c.2005C>A (p.Gln669Lys) | |
3 | g.52402609A>C | CA433885692 | BAP1 | c.2049T>G (p.Ala683=) c.1995T>G (p.Ala665=) n.722T>G c.248T>G c.621T>G (p.Ala207=) c.2118T>G (p.Ala706=) c.2073T>G (p.Ala691=) c.2064T>G (p.Ala688=) c.2004T>G (p.Ala668=) | |
3 | g.52402609A>G | CA433885693 | BAP1 | c.2049T>C (p.Ala683=) c.1995T>C (p.Ala665=) n.722T>C c.248T>C c.621T>C (p.Ala207=) c.2118T>C (p.Ala706=) c.2073T>C (p.Ala691=) c.2064T>C (p.Ala688=) c.2004T>C (p.Ala668=) | dbSNP |
3 | g.52402609A>T | CA433885694 | BAP1 | c.2049T>A (p.Ala683=) c.1995T>A (p.Ala665=) n.722T>A c.248T>A c.621T>A (p.Ala207=) c.2118T>A (p.Ala706=) c.2073T>A (p.Ala691=) c.2064T>A (p.Ala688=) c.2004T>A (p.Ala668=) | dbSNP |
3 | g.52402610G>A | CA353096132 | BAP1 | c.2048C>T (p.Ala683Val) c.1994C>T (p.Ala665Val) n.721C>T c.247C>T c.620C>T (p.Ala207Val) c.2117C>T (p.Ala706Val) c.2072C>T (p.Ala691Val) c.2063C>T (p.Ala688Val) c.2003C>T (p.Ala668Val) | |
3 | g.52402610G>C | CA353096133 | BAP1 | c.2048C>G (p.Ala683Gly) c.1994C>G (p.Ala665Gly) n.721C>G c.247C>G c.620C>G (p.Ala207Gly) c.2117C>G (p.Ala706Gly) c.2072C>G (p.Ala691Gly) c.2063C>G (p.Ala688Gly) c.2003C>G (p.Ala668Gly) | |
3 | g.52402610G>T | CA353096134 | BAP1 | c.2048C>A (p.Ala683Asp) c.1994C>A (p.Ala665Asp) n.721C>A c.247C>A c.620C>A (p.Ala207Asp) c.2117C>A (p.Ala706Asp) c.2072C>A (p.Ala691Asp) c.2063C>A (p.Ala688Asp) c.2003C>A (p.Ala668Asp) | |
3 | g.52402611C>A | CA353096136 | BAP1 | c.2047G>T (p.Ala683Ser) c.1993G>T (p.Ala665Ser) n.720G>T c.246G>T c.619G>T (p.Ala207Ser) c.2116G>T (p.Ala706Ser) c.2071G>T (p.Ala691Ser) c.2062G>T (p.Ala688Ser) c.2002G>T (p.Ala668Ser) | dbSNP |
3 | g.52402611C>G | CA353096140 | BAP1 | c.2047G>C (p.Ala683Pro) c.1993G>C (p.Ala665Pro) n.720G>C c.246G>C c.619G>C (p.Ala207Pro) c.2116G>C (p.Ala706Pro) c.2071G>C (p.Ala691Pro) c.2062G>C (p.Ala688Pro) c.2002G>C (p.Ala668Pro) | ClinVar dbSNP |
3 | g.52402611C>T | CA353096138 | BAP1 | c.2047G>A (p.Ala683Thr) c.1993G>A (p.Ala665Thr) n.720G>A c.246G>A c.619G>A (p.Ala207Thr) c.2116G>A (p.Ala706Thr) c.2071G>A (p.Ala691Thr) c.2062G>A (p.Ala688Thr) c.2002G>A (p.Ala668Thr) | dbSNP |
3 | g.52402612del | CA645529864 | BAP1 | c.2047del (p.Ala683LeufsTer9) c.1993del (p.Ala665LeufsTer9) n.720del c.246del c.619del (p.Ala207LeufsTer9) c.2116del (p.Ala706LeufsTer9) c.2071del (p.Ala691LeufsTer9) c.2062del (p.Ala688LeufsTer9) c.2002del (p.Ala668LeufsTer9) | COSMIC |
3 | g.52402612C>A | CA433885695 | BAP1 | c.2046G>T (p.Leu682=) c.1992G>T (p.Leu664=) n.719G>T c.245G>T c.618G>T (p.Leu206=) c.2115G>T (p.Leu705=) c.2070G>T (p.Leu690=) c.2061G>T (p.Leu687=) c.2001G>T (p.Leu667=) | |
3 | g.52402612C>G | CA433885696 | BAP1 | c.2046G>C (p.Leu682=) c.1992G>C (p.Leu664=) n.719G>C c.245G>C c.618G>C (p.Leu206=) c.2115G>C (p.Leu705=) c.2070G>C (p.Leu690=) c.2061G>C (p.Leu687=) c.2001G>C (p.Leu667=) | dbSNP |
3 | g.52402612C>T | CA433885697 | BAP1 | c.2046G>A (p.Leu682=) c.1992G>A (p.Leu664=) n.719G>A c.245G>A c.618G>A (p.Leu206=) c.2115G>A (p.Leu705=) c.2070G>A (p.Leu690=) c.2061G>A (p.Leu687=) c.2001G>A (p.Leu667=) | dbSNP |
3 | g.52402615_52402633del | CA645529865 | BAP1 | c.2028_2046del (p.Cys676TrpfsTer10) c.1974_1992del (p.Cys658TrpfsTer10) n.701_719del c.227_245del c.600_618del (p.Cys200TrpfsTer10) c.2097_2115del (p.Cys699TrpfsTer10) c.2052_2070del (p.Cys684TrpfsTer10) c.2043_2061del (p.Cys681TrpfsTer10) c.1983_2001del (p.Cys661TrpfsTer10) | COSMIC |
3 | g.52402613A>C | CA353096144 | BAP1 | c.2045T>G (p.Leu682Arg) c.1991T>G (p.Leu664Arg) n.718T>G c.244T>G c.617T>G (p.Leu206Arg) c.2114T>G (p.Leu705Arg) c.2069T>G (p.Leu690Arg) c.2060T>G (p.Leu687Arg) c.2000T>G (p.Leu667Arg) | |
3 | g.52402613A>G | CA353096146 | BAP1 | c.2045T>C (p.Leu682Pro) c.1991T>C (p.Leu664Pro) n.718T>C c.244T>C c.617T>C (p.Leu206Pro) c.2114T>C (p.Leu705Pro) c.2069T>C (p.Leu690Pro) c.2060T>C (p.Leu687Pro) c.2000T>C (p.Leu667Pro) | |
3 | g.52402613A>T | CA353096151 | BAP1 | c.2045T>A (p.Leu682Gln) c.1991T>A (p.Leu664Gln) n.718T>A c.244T>A c.617T>A (p.Leu206Gln) c.2114T>A (p.Leu705Gln) c.2069T>A (p.Leu690Gln) c.2060T>A (p.Leu687Gln) c.2000T>A (p.Leu667Gln) | dbSNP |
3 | g.52402614G>A | CA433885698 | BAP1 | c.2044C>T (p.Leu682=) c.1990C>T (p.Leu664=) n.717C>T c.243C>T c.616C>T (p.Leu206=) c.2113C>T (p.Leu705=) c.2068C>T (p.Leu690=) c.2059C>T (p.Leu687=) c.1999C>T (p.Leu667=) | ClinVar dbSNP |
3 | g.52402614G>C | CA353096152 | BAP1 | c.2044C>G (p.Leu682Val) c.1990C>G (p.Leu664Val) n.717C>G c.243C>G c.616C>G (p.Leu206Val) c.2113C>G (p.Leu705Val) c.2068C>G (p.Leu690Val) c.2059C>G (p.Leu687Val) c.1999C>G (p.Leu667Val) | dbSNP |
3 | g.52402614G>T | CA353096153 | BAP1 | c.2044C>A (p.Leu682Met) c.1990C>A (p.Leu664Met) n.717C>A c.243C>A c.616C>A (p.Leu206Met) c.2113C>A (p.Leu705Met) c.2068C>A (p.Leu690Met) c.2059C>A (p.Leu687Met) c.1999C>A (p.Leu667Met) | |
3 | g.52402615C>A | CA353096155 | BAP1 | c.2043G>T (p.Met681Ile) c.1989G>T (p.Met663Ile) n.716G>T c.242G>T c.615G>T (p.Met205Ile) c.2112G>T (p.Met704Ile) c.2067G>T (p.Met689Ile) c.2058G>T (p.Met686Ile) c.1998G>T (p.Met666Ile) | dbSNP |
3 | g.52402615C>G | CA353096159 | BAP1 | c.2043G>C (p.Met681Ile) c.1989G>C (p.Met663Ile) n.716G>C c.242G>C c.615G>C (p.Met205Ile) c.2112G>C (p.Met704Ile) c.2067G>C (p.Met689Ile) c.2058G>C (p.Met686Ile) c.1998G>C (p.Met666Ile) | dbSNP |
3 | g.52402615C>T | CA353096161 | BAP1 | c.2043G>A (p.Met681Ile) c.1989G>A (p.Met663Ile) n.716G>A c.242G>A c.615G>A (p.Met205Ile) c.2112G>A (p.Met704Ile) c.2067G>A (p.Met689Ile) c.2058G>A (p.Met686Ile) c.1998G>A (p.Met666Ile) | dbSNP |
3 | g.52402616A>C | CA353096165 | BAP1 | c.2042T>G (p.Met681Arg) c.1988T>G (p.Met663Arg) n.715T>G c.241T>G c.614T>G (p.Met205Arg) c.2111T>G (p.Met704Arg) c.2066T>G (p.Met689Arg) c.2057T>G (p.Met686Arg) c.1997T>G (p.Met666Arg) | |
3 | g.52402616A>G | CA353096167 | BAP1 | c.2042T>C (p.Met681Thr) c.1988T>C (p.Met663Thr) n.715T>C c.241T>C c.614T>C (p.Met205Thr) c.2111T>C (p.Met704Thr) c.2066T>C (p.Met689Thr) c.2057T>C (p.Met686Thr) c.1997T>C (p.Met666Thr) | dbSNP gnomAD v4 |
3 | g.52402616A>T | CA353096168 | BAP1 | c.2042T>A (p.Met681Lys) c.1988T>A (p.Met663Lys) n.715T>A c.241T>A c.614T>A (p.Met205Lys) c.2111T>A (p.Met704Lys) c.2066T>A (p.Met689Lys) c.2057T>A (p.Met686Lys) c.1997T>A (p.Met666Lys) | dbSNP |
3 | g.52402616dup | CA645529866 | BAP1 | c.2042dup (p.Met681IlefsTer?) c.1988dup (p.Met663IlefsTer?) n.715dup c.241dup c.614dup (p.Met205IlefsTer?) c.2111dup (p.Met704IlefsTer?) c.2066dup (p.Met689IlefsTer?) c.2057dup (p.Met686IlefsTer?) c.1997dup (p.Met666IlefsTer?) | COSMIC |
3 | g.52402617T>A | CA353096170 | BAP1 | c.2041A>T (p.Met681Leu) c.1987A>T (p.Met663Leu) n.714A>T c.240A>T c.613A>T (p.Met205Leu) c.2110A>T (p.Met704Leu) c.2065A>T (p.Met689Leu) c.2056A>T (p.Met686Leu) c.1996A>T (p.Met666Leu) | |
3 | g.52402617T>C | CA353096173 | BAP1 | c.2041A>G (p.Met681Val) c.1987A>G (p.Met663Val) n.714A>G c.240A>G c.613A>G (p.Met205Val) c.2110A>G (p.Met704Val) c.2065A>G (p.Met689Val) c.2056A>G (p.Met686Val) c.1996A>G (p.Met666Val) | ClinVar |
3 | g.52402617T>G | CA353096172 | BAP1 | c.2041A>C (p.Met681Leu) c.1987A>C (p.Met663Leu) n.714A>C c.240A>C c.613A>C (p.Met205Leu) c.2110A>C (p.Met704Leu) c.2065A>C (p.Met689Leu) c.2056A>C (p.Met686Leu) c.1996A>C (p.Met666Leu) | gnomAD v4 |
3 | g.52402617dup | CA433885699 | BAP1 | c.2041dup (p.Met681AsnfsTer?) c.1987dup (p.Met663AsnfsTer?) n.714dup c.240dup c.613dup (p.Met205AsnfsTer?) c.2110dup (p.Met704AsnfsTer?) c.2065dup (p.Met689AsnfsTer?) c.2056dup (p.Met686AsnfsTer?) c.1996dup (p.Met666AsnfsTer?) | |
3 | g.52402618G>A | CA2436617 | BAP1 | c.2040C>T (p.Ser680=) c.1986C>T (p.Ser662=) n.713C>T c.239C>T c.612C>T (p.Ser204=) c.2109C>T (p.Ser703=) c.2064C>T (p.Ser688=) c.2055C>T (p.Ser685=) c.1995C>T (p.Ser665=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.52402618G>C | CA433885701 | BAP1 | c.2040C>G (p.Ser680=) c.1986C>G (p.Ser662=) n.713C>G c.239C>G c.612C>G (p.Ser204=) c.2109C>G (p.Ser703=) c.2064C>G (p.Ser688=) c.2055C>G (p.Ser685=) c.1995C>G (p.Ser665=) | dbSNP |
3 | g.52402618G= | CA1364834830 | BAP1 | c.2040C= (p.Ser680=) c.1986C= (p.Ser662=) n.713C= c.239C= c.612C= (p.Ser204=) c.2109C= (p.Ser703=) c.2064C= (p.Ser688=) c.2055C= (p.Ser685=) c.1995C= (p.Ser665=) | |
3 | g.52402618G>T | CA433885700 | BAP1 | c.2040C>A (p.Ser680=) c.1986C>A (p.Ser662=) n.713C>A c.239C>A c.612C>A (p.Ser204=) c.2109C>A (p.Ser703=) c.2064C>A (p.Ser688=) c.2055C>A (p.Ser685=) c.1995C>A (p.Ser665=) | |
3 | g.52402619G>A | CA353096180 | BAP1 | c.2039C>T (p.Ser680Phe) c.1985C>T (p.Ser662Phe) n.712C>T c.238C>T c.611C>T (p.Ser204Phe) c.2108C>T (p.Ser703Phe) c.2063C>T (p.Ser688Phe) c.2054C>T (p.Ser685Phe) c.1994C>T (p.Ser665Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.52402619G>C | CA353096176 | BAP1 | c.2039C>G (p.Ser680Cys) c.1985C>G (p.Ser662Cys) n.712C>G c.238C>G c.611C>G (p.Ser204Cys) c.2108C>G (p.Ser703Cys) c.2063C>G (p.Ser688Cys) c.2054C>G (p.Ser685Cys) c.1994C>G (p.Ser665Cys) | dbSNP gnomAD v4 |
3 | g.52402619G= | CA1364834832 | BAP1 | c.2039C= (p.Ser680=) c.1985C= (p.Ser662=) n.712C= c.238C= c.611C= (p.Ser204=) c.2108C= (p.Ser703=) c.2063C= (p.Ser688=) c.2054C= (p.Ser685=) c.1994C= (p.Ser665=) | |
3 | g.52402619G>T | CA353096178 | BAP1 | c.2039C>A (p.Ser680Tyr) c.1985C>A (p.Ser662Tyr) n.712C>A c.238C>A c.611C>A (p.Ser204Tyr) c.2108C>A (p.Ser703Tyr) c.2063C>A (p.Ser688Tyr) c.2054C>A (p.Ser685Tyr) c.1994C>A (p.Ser665Tyr) | dbSNP |
3 | g.52402620A>C | CA353096181 | BAP1 | c.2038T>G (p.Ser680Ala) c.1984T>G (p.Ser662Ala) n.711T>G c.237T>G c.610T>G (p.Ser204Ala) c.2107T>G (p.Ser703Ala) c.2062T>G (p.Ser688Ala) c.2053T>G (p.Ser685Ala) c.1993T>G (p.Ser665Ala) | |
3 | g.52402620A>G | CA353096183 | BAP1 | c.2038T>C (p.Ser680Pro) c.1984T>C (p.Ser662Pro) n.711T>C c.237T>C c.610T>C (p.Ser204Pro) c.2107T>C (p.Ser703Pro) c.2062T>C (p.Ser688Pro) c.2053T>C (p.Ser685Pro) c.1993T>C (p.Ser665Pro) | dbSNP |
3 | g.52402620A>T | CA353096185 | BAP1 | c.2038T>A (p.Ser680Thr) c.1984T>A (p.Ser662Thr) n.711T>A c.237T>A c.610T>A (p.Ser204Thr) c.2107T>A (p.Ser703Thr) c.2062T>A (p.Ser688Thr) c.2053T>A (p.Ser685Thr) c.1993T>A (p.Ser665Thr) | dbSNP |
3 | g.52402621G>A | CA433885702 | BAP1 | c.2037C>T (p.Ile679=) c.1983C>T (p.Ile661=) n.710C>T c.236C>T c.609C>T (p.Ile203=) c.2106C>T (p.Ile702=) c.2061C>T (p.Ile687=) c.2052C>T (p.Ile684=) c.1992C>T (p.Ile664=) | ClinVar dbSNP gnomAD v4 |