Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.52402588_52402616delCA645529862BAP1c.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
3g.52402604_52402676delCA645529863BAP1c.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
3g.52402608_52402623delCA2573137279BAP1c.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
3g.52402608G>ACA129103BAP1c.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
3g.52402608G>CCA353096129BAP1c.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
3g.52402608G=CA1364834827BAP1c.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=)
3g.52402608G>TCA353096130BAP1c.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)
3g.52402609A>CCA433885692BAP1c.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=)
3g.52402609A>GCA433885693BAP1c.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
3g.52402609A>TCA433885694BAP1c.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
3g.52402610G>ACA353096132BAP1c.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)
3g.52402610G>CCA353096133BAP1c.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)
3g.52402610G>TCA353096134BAP1c.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)
3g.52402611C>ACA353096136BAP1c.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
3g.52402611C>GCA353096140BAP1c.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
3g.52402611C>TCA353096138BAP1c.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
3g.52402612delCA645529864BAP1c.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
3g.52402612C>ACA433885695BAP1c.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=)
3g.52402612C>GCA433885696BAP1c.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
3g.52402612C>TCA433885697BAP1c.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
3g.52402615_52402633delCA645529865BAP1c.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
3g.52402613A>CCA353096144BAP1c.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)
3g.52402613A>GCA353096146BAP1c.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)
3g.52402613A>TCA353096151BAP1c.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
3g.52402614G>ACA433885698BAP1c.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
3g.52402614G>CCA353096152BAP1c.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
3g.52402614G>TCA353096153BAP1c.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)
3g.52402615C>ACA353096155BAP1c.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
3g.52402615C>GCA353096159BAP1c.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
3g.52402615C>TCA353096161BAP1c.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
3g.52402616A>CCA353096165BAP1c.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)
3g.52402616A>GCA353096167BAP1c.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
3g.52402616A>TCA353096168BAP1c.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
3g.52402616dupCA645529866BAP1c.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
3g.52402617T>ACA353096170BAP1c.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)
3g.52402617T>CCA353096173BAP1c.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
3g.52402617T>GCA353096172BAP1c.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
3g.52402617dupCA433885699BAP1c.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?)
3g.52402618G>ACA2436617BAP1c.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
3g.52402618G>CCA433885701BAP1c.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
3g.52402618G=CA1364834830BAP1c.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=)
3g.52402618G>TCA433885700BAP1c.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=)
3g.52402619G>ACA353096180BAP1c.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
3g.52402619G>CCA353096176BAP1c.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
3g.52402619G=CA1364834832BAP1c.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=)
3g.52402619G>TCA353096178BAP1c.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
3g.52402620A>CCA353096181BAP1c.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)
3g.52402620A>GCA353096183BAP1c.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
3g.52402620A>TCA353096185BAP1c.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
3g.52402621G>ACA433885702BAP1c.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

Number of alleles fetched