Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.52402339C>ACA433885891BAP1c.2139G>T (p.Arg713=)
c.2085G>T (p.Arg695=)
n.812G>T
c.338G>T
c.711G>T (p.Arg237=)
c.2208G>T (p.Arg736=)
c.2163G>T (p.Arg721=)
c.2154G>T (p.Arg718=)
c.2094G>T (p.Arg698=)
3g.52402339C=CA1364834495BAP1c.2139G= (p.Arg713=)
c.2085G= (p.Arg695=)
n.812G=
c.338G=
c.711G= (p.Arg237=)
c.2208G= (p.Arg736=)
c.2163G= (p.Arg721=)
c.2154G= (p.Arg718=)
c.2094G= (p.Arg698=)
3g.52402339C>GCA433885894BAP1c.2139G>C (p.Arg713=)
c.2085G>C (p.Arg695=)
n.812G>C
c.338G>C
c.711G>C (p.Arg237=)
c.2208G>C (p.Arg736=)
c.2163G>C (p.Arg721=)
c.2154G>C (p.Arg718=)
c.2094G>C (p.Arg698=)
3g.52402339C>TCA433885895BAP1c.2139G>A (p.Arg713=)
c.2085G>A (p.Arg695=)
n.812G>A
c.338G>A
c.711G>A (p.Arg237=)
c.2208G>A (p.Arg736=)
c.2163G>A (p.Arg721=)
c.2154G>A (p.Arg718=)
c.2094G>A (p.Arg698=)
 dbSNP
3g.52402340C>ACA353094168BAP1c.2138G>T (p.Arg713Leu)
c.2084G>T (p.Arg695Leu)
n.811G>T
c.337G>T
c.710G>T (p.Arg237Leu)
c.2207G>T (p.Arg736Leu)
c.2162G>T (p.Arg721Leu)
c.2153G>T (p.Arg718Leu)
c.2093G>T (p.Arg698Leu)
3g.52402340C=CA1364834497BAP1c.2138G= (p.Arg713=)
c.2084G= (p.Arg695=)
n.811G=
c.337G=
c.710G= (p.Arg237=)
c.2207G= (p.Arg736=)
c.2162G= (p.Arg721=)
c.2153G= (p.Arg718=)
c.2093G= (p.Arg698=)
3g.52402340C>GCA353094171BAP1c.2138G>C (p.Arg713Pro)
c.2084G>C (p.Arg695Pro)
n.811G>C
c.337G>C
c.710G>C (p.Arg237Pro)
c.2207G>C (p.Arg736Pro)
c.2162G>C (p.Arg721Pro)
c.2153G>C (p.Arg718Pro)
c.2093G>C (p.Arg698Pro)
3g.52402340C>TCA353094173BAP1c.2138G>A (p.Arg713Gln)
c.2084G>A (p.Arg695Gln)
n.811G>A
c.337G>A
c.710G>A (p.Arg237Gln)
c.2207G>A (p.Arg736Gln)
c.2162G>A (p.Arg721Gln)
c.2153G>A (p.Arg718Gln)
c.2093G>A (p.Arg698Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52402341G>ACA353094179BAP1c.2137C>T (p.Arg713Trp)
c.2083C>T (p.Arg695Trp)
n.810C>T
c.336C>T
c.709C>T (p.Arg237Trp)
c.2206C>T (p.Arg736Trp)
c.2161C>T (p.Arg721Trp)
c.2152C>T (p.Arg718Trp)
c.2092C>T (p.Arg698Trp)
 ClinVar dbSNP gnomAD v4 COSMIC
3g.52402341G>CCA353094181BAP1c.2137C>G (p.Arg713Gly)
c.2083C>G (p.Arg695Gly)
n.810C>G
c.336C>G
c.709C>G (p.Arg237Gly)
c.2206C>G (p.Arg736Gly)
c.2161C>G (p.Arg721Gly)
c.2152C>G (p.Arg718Gly)
c.2092C>G (p.Arg698Gly)
 dbSNP
3g.52402341G=CA1364834499BAP1c.2137C= (p.Arg713=)
c.2083C= (p.Arg695=)
n.810C=
c.336C=
c.709C= (p.Arg237=)
c.2206C= (p.Arg736=)
c.2161C= (p.Arg721=)
c.2152C= (p.Arg718=)
c.2092C= (p.Arg698=)
3g.52402341G>TCA433885897BAP1c.2137C>A (p.Arg713=)
c.2083C>A (p.Arg695=)
n.810C>A
c.336C>A
c.709C>A (p.Arg237=)
c.2206C>A (p.Arg736=)
c.2161C>A (p.Arg721=)
c.2152C>A (p.Arg718=)
c.2092C>A (p.Arg698=)
 gnomAD v4
3g.52402342C>ACA353094184BAP1c.2136G>T (p.Gln712His)
c.2082G>T (p.Gln694His)
n.809G>T
c.335G>T
c.708G>T (p.Gln236His)
c.2205G>T (p.Gln735His)
c.2160G>T (p.Gln720His)
c.2151G>T (p.Gln717His)
c.2091G>T (p.Gln697His)
 gnomAD v4
3g.52402342C=CA1364834502BAP1c.2136G= (p.Gln712=)
c.2082G= (p.Gln694=)
n.809G=
c.335G=
c.708G= (p.Gln236=)
c.2205G= (p.Gln735=)
c.2160G= (p.Gln720=)
c.2151G= (p.Gln717=)
c.2091G= (p.Gln697=)
3g.52402342C>GCA353094192BAP1c.2136G>C (p.Gln712His)
c.2082G>C (p.Gln694His)
n.809G>C
c.335G>C
c.708G>C (p.Gln236His)
c.2205G>C (p.Gln735His)
c.2160G>C (p.Gln720His)
c.2151G>C (p.Gln717His)
c.2091G>C (p.Gln697His)
3g.52402342C>TCA433885900BAP1c.2136G>A (p.Gln712=)
c.2082G>A (p.Gln694=)
n.809G>A
c.335G>A
c.708G>A (p.Gln236=)
c.2205G>A (p.Gln735=)
c.2160G>A (p.Gln720=)
c.2151G>A (p.Gln717=)
c.2091G>A (p.Gln697=)
 dbSNP gnomAD v2 gnomAD v4
3g.52402343T>ACA353094193BAP1c.2135A>T (p.Gln712Leu)
c.2081A>T (p.Gln694Leu)
n.808A>T
c.334A>T
c.707A>T (p.Gln236Leu)
c.2204A>T (p.Gln735Leu)
c.2159A>T (p.Gln720Leu)
c.2150A>T (p.Gln717Leu)
c.2090A>T (p.Gln697Leu)
3g.52402343T>CCA353094194BAP1c.2135A>G (p.Gln712Arg)
c.2081A>G (p.Gln694Arg)
n.808A>G
c.334A>G
c.707A>G (p.Gln236Arg)
c.2204A>G (p.Gln735Arg)
c.2159A>G (p.Gln720Arg)
c.2150A>G (p.Gln717Arg)
c.2090A>G (p.Gln697Arg)
3g.52402343T>GCA353094195BAP1c.2135A>C (p.Gln712Pro)
c.2081A>C (p.Gln694Pro)
n.808A>C
c.334A>C
c.707A>C (p.Gln236Pro)
c.2204A>C (p.Gln735Pro)
c.2159A>C (p.Gln720Pro)
c.2150A>C (p.Gln717Pro)
c.2090A>C (p.Gln697Pro)
 ClinVar dbSNP gnomAD v4
3g.52402344G>ACA353094197BAP1c.2134C>T (p.Gln712Ter)
c.2080C>T (p.Gln694Ter)
n.807C>T
c.333C>T
c.706C>T (p.Gln236Ter)
c.2203C>T (p.Gln735Ter)
c.2158C>T (p.Gln720Ter)
c.2149C>T (p.Gln717Ter)
c.2089C>T (p.Gln697Ter)
 gnomAD v4 COSMIC
3g.52402344G>CCA353094199BAP1c.2134C>G (p.Gln712Glu)
c.2080C>G (p.Gln694Glu)
n.807C>G
c.333C>G
c.706C>G (p.Gln236Glu)
c.2203C>G (p.Gln735Glu)
c.2158C>G (p.Gln720Glu)
c.2149C>G (p.Gln717Glu)
c.2089C>G (p.Gln697Glu)
3g.52402344G>TCA353094200BAP1c.2134C>A (p.Gln712Lys)
c.2080C>A (p.Gln694Lys)
n.807C>A
c.333C>A
c.706C>A (p.Gln236Lys)
c.2203C>A (p.Gln735Lys)
c.2158C>A (p.Gln720Lys)
c.2149C>A (p.Gln717Lys)
c.2089C>A (p.Gln697Lys)
 gnomAD v4
3g.52402345C>ACA353094203BAP1c.2133G>T (p.Lys711Asn)
c.2079G>T (p.Lys693Asn)
n.806G>T
c.332G>T
c.705G>T (p.Lys235Asn)
c.2202G>T (p.Lys734Asn)
c.2157G>T (p.Lys719Asn)
c.2148G>T (p.Lys716Asn)
c.2088G>T (p.Lys696Asn)
 ClinVar dbSNP gnomAD v4
3g.52402345C>GCA353094204BAP1c.2133G>C (p.Lys711Asn)
c.2079G>C (p.Lys693Asn)
n.806G>C
c.332G>C
c.705G>C (p.Lys235Asn)
c.2202G>C (p.Lys734Asn)
c.2157G>C (p.Lys719Asn)
c.2148G>C (p.Lys716Asn)
c.2088G>C (p.Lys696Asn)
 dbSNP
3g.52402345C>TCA433885908BAP1c.2133G>A (p.Lys711=)
c.2079G>A (p.Lys693=)
n.806G>A
c.332G>A
c.705G>A (p.Lys235=)
c.2202G>A (p.Lys734=)
c.2157G>A (p.Lys719=)
c.2148G>A (p.Lys716=)
c.2088G>A (p.Lys696=)
 ClinVar dbSNP gnomAD v4
3g.52402346T>ACA353094206BAP1c.2132A>T (p.Lys711Met)
c.2078A>T (p.Lys693Met)
n.805A>T
c.331A>T
c.704A>T (p.Lys235Met)
c.2201A>T (p.Lys734Met)
c.2156A>T (p.Lys719Met)
c.2147A>T (p.Lys716Met)
c.2087A>T (p.Lys696Met)
 gnomAD v4
3g.52402346T>CCA353094207BAP1c.2132A>G (p.Lys711Arg)
c.2078A>G (p.Lys693Arg)
n.805A>G
c.331A>G
c.704A>G (p.Lys235Arg)
c.2201A>G (p.Lys734Arg)
c.2156A>G (p.Lys719Arg)
c.2147A>G (p.Lys716Arg)
c.2087A>G (p.Lys696Arg)
3g.52402346T>GCA353094209BAP1c.2132A>C (p.Lys711Thr)
c.2078A>C (p.Lys693Thr)
n.805A>C
c.331A>C
c.704A>C (p.Lys235Thr)
c.2201A>C (p.Lys734Thr)
c.2156A>C (p.Lys719Thr)
c.2147A>C (p.Lys716Thr)
c.2087A>C (p.Lys696Thr)
3g.52402347delCA645529852BAP1c.2132del (p.Lys711SerfsTer25)
c.2078del (p.Lys693SerfsTer25)
n.805del
c.331del
c.704del (p.Lys235SerfsTer25)
c.2201del (p.Lys734SerfsTer25)
c.2156del (p.Lys719SerfsTer25)
c.2147del (p.Lys716SerfsTer25)
c.2087del (p.Lys696SerfsTer25)
 COSMIC
3g.52402347T>ACA353094212BAP1c.2131A>T (p.Lys711Ter)
c.2077A>T (p.Lys693Ter)
n.804A>T
c.330A>T
c.703A>T (p.Lys235Ter)
c.2200A>T (p.Lys734Ter)
c.2155A>T (p.Lys719Ter)
c.2146A>T (p.Lys716Ter)
c.2086A>T (p.Lys696Ter)
3g.52402347T>CCA353094213BAP1c.2131A>G (p.Lys711Glu)
c.2077A>G (p.Lys693Glu)
n.804A>G
c.330A>G
c.703A>G (p.Lys235Glu)
c.2200A>G (p.Lys734Glu)
c.2155A>G (p.Lys719Glu)
c.2146A>G (p.Lys716Glu)
c.2086A>G (p.Lys696Glu)
 dbSNP
3g.52402347T>GCA353094215BAP1c.2131A>C (p.Lys711Gln)
c.2077A>C (p.Lys693Gln)
n.804A>C
c.330A>C
c.703A>C (p.Lys235Gln)
c.2200A>C (p.Lys734Gln)
c.2155A>C (p.Lys719Gln)
c.2146A>C (p.Lys716Gln)
c.2086A>C (p.Lys696Gln)
3g.52402347T=CA1364834504BAP1c.2131A= (p.Lys711=)
c.2077A= (p.Lys693=)
n.804A=
c.330A=
c.703A= (p.Lys235=)
c.2200A= (p.Lys734=)
c.2155A= (p.Lys719=)
c.2146A= (p.Lys716=)
c.2086A= (p.Lys696=)
3g.52402348G>ACA433885910BAP1c.2130C>T (p.His710=)
c.2076C>T (p.His692=)
n.803C>T
c.329C>T
c.702C>T (p.His234=)
c.2199C>T (p.His733=)
c.2154C>T (p.His718=)
c.2145C>T (p.His715=)
c.2085C>T (p.His695=)
 dbSNP gnomAD v2 gnomAD v4
3g.52402348G>CCA353094222BAP1c.2130C>G (p.His710Gln)
c.2076C>G (p.His692Gln)
n.803C>G
c.329C>G
c.702C>G (p.His234Gln)
c.2199C>G (p.His733Gln)
c.2154C>G (p.His718Gln)
c.2145C>G (p.His715Gln)
c.2085C>G (p.His695Gln)
3g.52402348G=CA1364834506BAP1c.2130C= (p.His710=)
c.2076C= (p.His692=)
n.803C=
c.329C=
c.702C= (p.His234=)
c.2199C= (p.His733=)
c.2154C= (p.His718=)
c.2145C= (p.His715=)
c.2085C= (p.His695=)
3g.52402348G>TCA353094220BAP1c.2130C>A (p.His710Gln)
c.2076C>A (p.His692Gln)
n.803C>A
c.329C>A
c.702C>A (p.His234Gln)
c.2199C>A (p.His733Gln)
c.2154C>A (p.His718Gln)
c.2145C>A (p.His715Gln)
c.2085C>A (p.His695Gln)
 gnomAD v4
3g.52402349T>ACA353094225BAP1c.2129A>T (p.His710Leu)
c.2075A>T (p.His692Leu)
n.802A>T
c.328A>T
c.701A>T (p.His234Leu)
c.2198A>T (p.His733Leu)
c.2153A>T (p.His718Leu)
c.2144A>T (p.His715Leu)
c.2084A>T (p.His695Leu)
 dbSNP
3g.52402349T>CCA353094228BAP1c.2129A>G (p.His710Arg)
c.2075A>G (p.His692Arg)
n.802A>G
c.328A>G
c.701A>G (p.His234Arg)
c.2198A>G (p.His733Arg)
c.2153A>G (p.His718Arg)
c.2144A>G (p.His715Arg)
c.2084A>G (p.His695Arg)
3g.52402349T>GCA353094230BAP1c.2129A>C (p.His710Pro)
c.2075A>C (p.His692Pro)
n.802A>C
c.328A>C
c.701A>C (p.His234Pro)
c.2198A>C (p.His733Pro)
c.2153A>C (p.His718Pro)
c.2144A>C (p.His715Pro)
c.2084A>C (p.His695Pro)
3g.52402350G>ACA353094232BAP1c.2128C>T (p.His710Tyr)
c.2074C>T (p.His692Tyr)
n.801C>T
c.327C>T
c.700C>T (p.His234Tyr)
c.2197C>T (p.His733Tyr)
c.2152C>T (p.His718Tyr)
c.2143C>T (p.His715Tyr)
c.2083C>T (p.His695Tyr)
3g.52402350G>CCA353094234BAP1c.2128C>G (p.His710Asp)
c.2074C>G (p.His692Asp)
n.801C>G
c.327C>G
c.700C>G (p.His234Asp)
c.2197C>G (p.His733Asp)
c.2152C>G (p.His718Asp)
c.2143C>G (p.His715Asp)
c.2083C>G (p.His695Asp)
3g.52402350G>TCA353094236BAP1c.2128C>A (p.His710Asn)
c.2074C>A (p.His692Asn)
n.801C>A
c.327C>A
c.700C>A (p.His234Asn)
c.2197C>A (p.His733Asn)
c.2152C>A (p.His718Asn)
c.2143C>A (p.His715Asn)
c.2083C>A (p.His695Asn)
 gnomAD v4
3g.52402351G>ACA433885919BAP1c.2127C>T (p.Leu709=)
c.2073C>T (p.Leu691=)
n.800C>T
c.326C>T
c.699C>T (p.Leu233=)
c.2196C>T (p.Leu732=)
c.2151C>T (p.Leu717=)
c.2142C>T (p.Leu714=)
c.2082C>T (p.Leu694=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.52402351G>CCA433885920BAP1c.2127C>G (p.Leu709=)
c.2073C>G (p.Leu691=)
n.800C>G
c.326C>G
c.699C>G (p.Leu233=)
c.2196C>G (p.Leu732=)
c.2151C>G (p.Leu717=)
c.2142C>G (p.Leu714=)
c.2082C>G (p.Leu694=)
3g.52402351G=CA1364834508BAP1c.2127C= (p.Leu709=)
c.2073C= (p.Leu691=)
n.800C=
c.326C=
c.699C= (p.Leu233=)
c.2196C= (p.Leu732=)
c.2151C= (p.Leu717=)
c.2142C= (p.Leu714=)
c.2082C= (p.Leu694=)
3g.52402351G>TCA433885921BAP1c.2127C>A (p.Leu709=)
c.2073C>A (p.Leu691=)
n.800C>A
c.326C>A
c.699C>A (p.Leu233=)
c.2196C>A (p.Leu732=)
c.2151C>A (p.Leu717=)
c.2142C>A (p.Leu714=)
c.2082C>A (p.Leu694=)
 gnomAD v4
3g.52402352A>CCA353094242BAP1c.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)
3g.52402352A>GCA353094238BAP1c.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
3g.52402352A>TCA353094240BAP1c.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
3g.52402353G>ACA353094245BAP1c.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
3g.52402353G>CCA353094247BAP1c.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)
3g.52402353G>TCA353094248BAP1c.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
3g.52402353_52402354delinsGCCA1364834510BAP1c.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=)
3g.52402353_52402354delinsTACA1364834512BAP1c.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
3g.52402354C>ACA433885924BAP1c.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
3g.52402354C=CA1364834514BAP1c.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=)
3g.52402354C>GCA433885927BAP1c.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
3g.52402354C>TCA433885925BAP1c.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
3g.52402355C>ACA353094252BAP1c.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)
3g.52402355C=CA1364834518BAP1c.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=)
3g.52402355C>GCA353094253BAP1c.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)
3g.52402355C>TCA353094254BAP1c.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
3g.52402356G>ACA353094255BAP1c.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
3g.52402356G>CCA353094256BAP1c.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)
3g.52402356G=CA1364834520BAP1c.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=)
3g.52402356G>TCA433885936BAP1c.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
3g.52402357G>ACA2436586BAP1c.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
3g.52402357G>CCA433885940BAP1c.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
3g.52402357G=CA1364834523BAP1c.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=)
3g.52402357G>TCA433885942BAP1c.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
3g.52402358C>ACA353094258BAP1c.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
3g.52402358C>GCA353094262BAP1c.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)
3g.52402358C>TCA353094264BAP1c.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
3g.52402359C>ACA353094267BAP1c.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
3g.52402359C=CA1364834525BAP1c.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=)
3g.52402359C>GCA353094270BAP1c.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)
3g.52402359C>TCA353094269BAP1c.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
3g.52402360G>ACA2436587BAP1c.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
3g.52402360G>CCA353094273BAP1c.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)
3g.52402360G=CA1364834527BAP1c.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=)
3g.52402360G>TCA2436588BAP1c.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
3g.52402361A>CCA353094276BAP1c.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)
3g.52402361A>GCA353094277BAP1c.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)
3g.52402361A>TCA353094279BAP1c.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)
3g.52402362T>ACA353094280BAP1c.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)
3g.52402362T>CCA353094281BAP1c.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
3g.52402362T>GCA353094283BAP1c.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)
3g.52402362T=CA1364834530BAP1c.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=)
3g.52402363G>ACA433885951BAP1c.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
3g.52402363G>CCA353094285BAP1c.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
3g.52402363G=CA1364834532BAP1c.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=)
3g.52402363G>TCA353094286BAP1c.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
3g.52402364C>ACA353094294BAP1c.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
3g.52402364C=CA1364834536BAP1c.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=)
3g.52402364C>GCA353094292BAP1c.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
3g.52402364C>TCA353094289BAP1c.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
3g.52402365T>ACA353094296BAP1c.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)
3g.52402365T>CCA353094297BAP1c.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
3g.52402365T>GCA353094299BAP1c.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)
3g.52402366G>ACA433885957BAP1c.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
3g.52402366G>CCA433885958BAP1c.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=)
3g.52402366G=CA1364834538BAP1c.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=)
3g.52402366G>TCA433885961BAP1c.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
3g.52402367A=CA1364834541BAP1c.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=)
3g.52402367A>CCA353094302BAP1c.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)
3g.52402367A>GCA353094304BAP1c.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
3g.52402367A>TCA353094306BAP1c.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)
3g.52402368C>ACA353094307BAP1c.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
3g.52402368C=CA1364834545BAP1c.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=)
3g.52402368C>GCA353094308BAP1c.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)
3g.52402368C>TCA353094311BAP1c.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
3g.52402371dupCA645529853BAP1c.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
3g.52402371delCA433885963BAP1c.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
3g.52402368_52402369insGCA433885966BAP1c.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)
3g.52402369C>ACA433885969BAP1c.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
3g.52402369C>GCA433885970BAP1c.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=)
3g.52402369C>TCA433885967BAP1c.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
3g.52402370C>ACA353094313BAP1c.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)
3g.52402370C>GCA353094316BAP1c.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)
3g.52402370C>TCA353094317BAP1c.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)
3g.52402371C>ACA353094322BAP1c.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)
3g.52402371C>GCA353094324BAP1c.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)
3g.52402371C>TCA353094320BAP1c.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
3g.52402372T>ACA353094330BAP1c.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
3g.52402372T>CCA433885975BAP1c.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
3g.52402372T>GCA353094328BAP1c.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)
3g.52402373dupCA645529854BAP1c.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
3g.52402373T>ACA353094336BAP1c.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)
3g.52402373T>CCA353094337BAP1c.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)
3g.52402373T>GCA353094340BAP1c.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)
3g.52402373_52402398delCA645529855BAP1c.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
3g.52402374G>ACA353094344BAP1c.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
3g.52402374G>CCA353094346BAP1c.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)
3g.52402374G>TCA353094347BAP1c.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
3g.52402375G>ACA2436589BAP1c.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
3g.52402375G>CCA433885980BAP1c.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=)
3g.52402375G=CA1364834549BAP1c.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=)
3g.52402375G>TCA433885981BAP1c.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
3g.52402376C>ACA353094350BAP1c.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
3g.52402376C=CA1364834551BAP1c.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=)
3g.52402376C>GCA353094353BAP1c.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)
3g.52402376C>TCA353094355BAP1c.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
3g.52402377G>ACA353094358BAP1c.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
3g.52402377G>CCA353094361BAP1c.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)
3g.52402377G=CA1364834553BAP1c.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=)
3g.52402377G>TCA353094363BAP1c.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
3g.52402378C>ACA433885990BAP1c.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=)
3g.52402378C=CA1364834555BAP1c.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=)
3g.52402378C>GCA433885991BAP1c.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=)
3g.52402378C>TCA433885989BAP1c.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
3g.52402379delCA2573052217BAP1c.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
3g.52402379C>ACA353094366BAP1c.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)
3g.52402379C=CA1364834556BAP1c.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=)
3g.52402379C>GCA353094370BAP1c.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
3g.52402379C>TCA353094368BAP1c.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
3g.52402380G>ACA353094373BAP1c.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
3g.52402380G>CCA353094375BAP1c.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)
3g.52402380G=CA1364834558BAP1c.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=)
3g.52402380G>TCA433885999BAP1c.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
3g.52402381C>ACA433886000BAP1c.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
3g.52402381C>GCA433886006BAP1c.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=)
3g.52402381C>TCA433886007BAP1c.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=)
3g.52402382delCA645529856BAP1c.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
3g.52402382C>ACA353094377BAP1c.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
3g.52402382C=CA1364834562BAP1c.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=)
3g.52402382C>GCA353094380BAP1c.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)
3g.52402382C>TCA353094381BAP1c.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
3g.52402383_52402384delCA645529857BAP1c.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
3g.52402384_52402387delCA2739292488BAP1c.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?)
3g.52402383G>ACA353094382BAP1c.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
3g.52402383G>CCA353094385BAP1c.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)
3g.52402383G=CA1364834565BAP1c.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=)
3g.52402383G>TCA2436590BAP1c.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
3g.52402384C>ACA433886015BAP1c.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=)
3g.52402384C>GCA433886018BAP1c.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
3g.52402384C>TCA433886019BAP1c.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=)
3g.52402385A>CCA353094387BAP1c.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)
3g.52402385A>GCA353094389BAP1c.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
3g.52402385A>TCA353094390BAP1c.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
3g.52402386C>ACA353094397BAP1c.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)
3g.52402386C=CA1364834568BAP1c.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=)
3g.52402386C>GCA353094394BAP1c.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
3g.52402386C>TCA2436591BAP1c.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
3g.52402387G>ACA2436592BAP1c.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
3g.52402387G>CCA433886026BAP1c.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=)
3g.52402387G=CA1364834570BAP1c.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=)
3g.52402387G>TCA433886027BAP1c.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
3g.52402388G>ACA353094401BAP1c.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)
3g.52402388G>CCA353094404BAP1c.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
3g.52402388G>TCA353094406BAP1c.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
3g.52402389A>CCA353094409BAP1c.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)
3g.52402389A>GCA353094411BAP1c.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)
3g.52402389A>TCA353094414BAP1c.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)
3g.52402390G>ACA433886038BAP1c.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
3g.52402390G>CCA2436593BAP1c.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)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.52402390G=CA1364834574BAP1c.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=)
3g.52402390G>TCA433886041BAP1c.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
3g.52402391A>CCA353094422BAP1c.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)
3g.52402391A>GCA353094424BAP1c.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)
3g.52402391A>TCA353094426BAP1c.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)
3g.52402392T>ACA353094428BAP1c.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)
3g.52402392T>CCA353094430BAP1c.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
3g.52402392T>GCA353094432BAP1c.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)
3g.52402392T=CA1364834582BAP1c.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=)
3g.52402393delCA645529858BAP1c.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
3g.52402393G>ACA433886059BAP1c.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
3g.52402393G>CCA353094436BAP1c.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
3g.52402393G>TCA353094435BAP1c.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
3g.52402394T>ACA353094438BAP1c.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)
3g.52402394T>CCA353094441BAP1c.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
3g.52402394T>GCA353094443BAP1c.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)
3g.52402395T>ACA353094446BAP1c.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)
3g.52402395T>CCA353094448BAP1c.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)
3g.52402395T>GCA353094451BAP1c.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)
3g.52402396C>ACA353094452BAP1c.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
3g.52402396C=CA1364834585BAP1c.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=)
3g.52402396C>GCA353094453BAP1c.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
3g.52402396C>TCA433886077BAP1c.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
3g.52402397T>ACA353094454BAP1c.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)
3g.52402397T>CCA353094462BAP1c.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)
3g.52402397T>GCA353094465BAP1c.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)
3g.52402398G>ACA353094469BAP1c.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
3g.52402398G>CCA353094471BAP1c.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)
3g.52402398G>TCA353094474BAP1c.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
3g.52402399C>ACA353094477BAP1c.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
3g.52402399C=CA1364834589BAP1c.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=)
3g.52402399C>GCA353094480BAP1c.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)
3g.52402399C>TCA74739886BAP1c.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
3g.52402399dupCA645529859BAP1c.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
3g.52402400T>ACA353094483BAP1c.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)
3g.52402400T>CCA353094486BAP1c.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)
3g.52402400T>GCA353094484BAP1c.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)
3g.52402401C>ACA353094488BAP1c.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
3g.52402401C>GCA353094490BAP1c.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)
3g.52402401C>TCA353094493BAP1c.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
3g.52402402C>ACA433886091BAP1c.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
3g.52402402C=CA1364834593BAP1c.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=)
3g.52402402C>GCA433886100BAP1c.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=)
3g.52402402C>TCA2436594BAP1c.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
3g.52402403A>CCA353094497BAP1c.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
3g.52402403A>GCA353094499BAP1c.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)
3g.52402403A>TCA353094501BAP1c.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
3g.52402404C>ACA353094503BAP1c.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
3g.52402404C>GCA353094506BAP1c.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)
3g.52402404C>TCA353094509BAP1c.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)
3g.52402405delCA433886118BAP1c.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
3g.52402405T>ACA433886124BAP1c.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=)
3g.52402405T>CCA433886120BAP1c.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
3g.52402405T>GCA433886119BAP1c.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
3g.52402405T=CA1364834598BAP1c.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=)
3g.52402406delCA433886127BAP1c.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
3g.52402406A>CCA353094512BAP1c.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)
3g.52402406A>GCA353094514BAP1c.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
3g.52402406A>TCA353094515BAP1c.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)
3g.52402407G>ACA433886128BAP1c.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
3g.52402407G>CCA353094518BAP1c.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
3g.52402407G=CA1364834602BAP1c.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=)
3g.52402407G>TCA353094520BAP1c.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
3g.52402408G>ACA433886129BAP1c.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
3g.52402408G>CCA353094523BAP1c.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
3g.52402408G=CA1364834605BAP1c.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=)
3g.52402408G>TCA353094524BAP1c.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
3g.52402409T>ACA353094527BAP1c.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
3g.52402409T>CCA353094530BAP1c.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
3g.52402409T>GCA353094533BAP1c.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)
3g.52402409T=CA1364834607BAP1c.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=)
3g.52402410T>ACA353094534BAP1c.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)
3g.52402410T>CCA353094535BAP1c.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
3g.52402410T>GCA353094537BAP1c.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)
3g.52402410T=CA1364834609BAP1c.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=)
3g.52402411G>ACA433886142BAP1c.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
3g.52402411G>CCA433886143BAP1c.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=)
3g.52402411G=CA1364834615BAP1c.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=)
3g.52402411G>TCA433886144BAP1c.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
3g.52402412G>ACA353094540BAP1c.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
3g.52402412G>CCA2436595BAP1c.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
3g.52402412G=CA1364834620BAP1c.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=)
3g.52402412G>TCA353094543BAP1c.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
3g.52402413C>ACA353094548BAP1c.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
3g.52402413C=CA1364834623BAP1c.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=)
3g.52402413C>GCA353094545BAP1c.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
3g.52402413C>TCA353094544BAP1c.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
3g.52402414C>ACA433886153BAP1c.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=)
3g.52402414C>GCA433886154BAP1c.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=)
3g.52402414C>TCA433886155BAP1c.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
3g.52402415A>CCA353094551BAP1c.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)
3g.52402415A>GCA353094552BAP1c.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
3g.52402415A>TCA353094553BAP1c.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
3g.52402416G>ACA433886161BAP1c.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
3g.52402416G>CCA353094554BAP1c.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)
3g.52402416G=CA1364834626BAP1c.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=)
3g.52402416G>TCA353094556BAP1c.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
3g.52402417C>ACA353094559BAP1c.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
3g.52402417C=CA1364834630BAP1c.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=)
3g.52402417C>GCA74739887BAP1c.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
3g.52402417C>TCA74739888BAP1c.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
3g.52402418A=CA1364834636BAP1c.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=)
3g.52402418A>CCA353094562BAP1c.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
3g.52402418A>GCA353094565BAP1c.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
3g.52402418A>TCA353094568BAP1c.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)
3g.52402419T>ACA353094571BAP1c.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)
3g.52402419T>CCA353094574BAP1c.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
3g.52402419T>GCA353094576BAP1c.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)
3g.52402419T=CA1364834639BAP1c.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=)
3g.52402420G>ACA433886174BAP1c.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
3g.52402420G>CCA433886175BAP1c.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=)
3g.52402420G>TCA433886176BAP1c.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
3g.52402421C>ACA353094580BAP1c.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)
3g.52402421C>GCA353094584BAP1c.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)
3g.52402421C>TCA353094582BAP1c.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
3g.52402422C>ACA353094587BAP1c.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
3g.52402422C=CA1364834641BAP1c.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=)
3g.52402422C>GCA353094591BAP1c.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)
3g.52402422C>TCA353094593BAP1c.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
3g.52402423delCA645529860BAP1c.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
3g.52402423T>ACA353094596BAP1c.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)
3g.52402423T>CCA129101BAP1c.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
3g.52402423T>GCA353094598BAP1c.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
3g.52402423T=CA1364834644BAP1c.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=)
3g.52402424G>ACA916081432BAP1c.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
3g.52402424G>CCA2580616475BAP1c.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
3g.52402424G=CA1364834646BAP1c.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=)
3g.52402425C>ACA2436596BAP1c.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
3g.52402425C=CA1364834649BAP1c.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=)
3g.52402425C>GCA2702540302BAP1c.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
3g.52402425C>TCA2436597BAP1c.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
3g.52402426G>ACA2436598BAP1c.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
3g.52402426G>CCA645529861BAP1c.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
3g.52402426G=CA1364834654BAP1c.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=)
3g.52402426G>TCA2666006578BAP1c.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
3g.52402429G>ACA2573137273BAP1c.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
3g.52402429G>CCA2580070167BAP1c.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
3g.52402429G>TCA2666006579BAP1c.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
3g.52402431G>ACA2580070168BAP1c.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
3g.52402431G>TCA2666006582BAP1c.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
3g.52402432G>ACA1047968435BAP1c.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
3g.52402432G=CA1364834656BAP1c.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=)
3g.52402432G>TCA2666006586BAP1c.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
3g.52402432_52402433delinsGTCA1364834657BAP1c.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)
3g.52402433delCA2436599BAP1c.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
3g.52402433T>ACA2666006594BAP1c.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
3g.52402433T>CCA74739897BAP1c.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
3g.52402433T>GCA2580070169BAP1c.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
3g.52402433T=CA1364834659BAP1c.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=)
3g.52402434A>GCA2666006597BAP1c.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
3g.52402435G>TCA2666006599BAP1c.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
3g.52402436A>TCA2702822620BAP1c.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
3g.52402437G>ACA658683341BAP1c.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
3g.52402437G>CCA74739900BAP1c.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
3g.52402437G=CA1364834661BAP1c.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=)
3g.52402438A=CA1364834664BAP1c.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=)
3g.52402438A>CCA913188113BAP1c.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
3g.52402438A>GCA2666006608BAP1c.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
3g.52402439C>ACA2666006614BAP1c.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
3g.52402439C=CA1364834666BAP1c.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=)
3g.52402439C>GCA2577782153BAP1c.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
3g.52402439C>TCA2436600BAP1c.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

Number of alleles fetched