Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.41147864_41147870delCA658793992EP300c.*79_*85del (n.*79_*85del)
c.1949_1955del
c.2159_2165del (p.Met720SerfsTer?)
c.2081_2087del (p.Met694SerfsTer?)
c.203_209del (p.Met68SerfsTer?)
n.292_298del
22g.41147867C>ACA411689992EP300c.*82C>A (n.*82C>A)
c.1952C>A
c.2162C>A (p.Ala721Asp)
c.2084C>A (p.Ala695Asp)
c.206C>A (p.Ala69Asp)
n.295C>A
 dbSNP
22g.41147867C>GCA411689993EP300c.*82C>G (n.*82C>G)
c.1952C>G
c.2162C>G (p.Ala721Gly)
c.2084C>G (p.Ala695Gly)
c.206C>G (p.Ala69Gly)
n.295C>G
 dbSNP
22g.41147867C>TCA411689994EP300c.*82C>T (n.*82C>T)
c.1952C>T
c.2162C>T (p.Ala721Val)
c.2084C>T (p.Ala695Val)
c.206C>T (p.Ala69Val)
n.295C>T
 dbSNP
22g.41147869dupCA10584654EP300c.*84dup (n.*84dup)
c.1954dup
c.2164dup (p.Gln722ProfsTer?)
c.2086dup (p.Gln696ProfsTer?)
c.208dup (p.Gln70ProfsTer?)
n.297dup
 ClinVar dbSNP
22g.41147868C>ACA514640180EP300c.*83C>A (n.*83C>A)
c.1953C>A
c.2163C>A (p.Ala721=)
c.2085C>A (p.Ala695=)
c.207C>A (p.Ala69=)
n.296C>A
 dbSNP gnomAD v4
22g.41147868C>GCA514640178EP300c.*83C>G (n.*83C>G)
c.1953C>G
c.2163C>G (p.Ala721=)
c.2085C>G (p.Ala695=)
c.207C>G (p.Ala69=)
n.296C>G
 dbSNP gnomAD v4
22g.41147868C>TCA514640176EP300c.*83C>T (n.*83C>T)
c.1953C>T
c.2163C>T (p.Ala721=)
c.2085C>T (p.Ala695=)
c.207C>T (p.Ala69=)
n.296C>T
 dbSNP
22g.41147869C>ACA411689996EP300c.*84C>A (n.*84C>A)
c.1954C>A
c.2164C>A (p.Gln722Lys)
c.2086C>A (p.Gln696Lys)
c.208C>A (p.Gln70Lys)
n.297C>A
 dbSNP gnomAD v2 gnomAD v4
22g.41147869C=CA2406101896EP300c.*84C= (n.*84C=)
c.1954C=
c.2164C= (p.Gln722=)
c.2086C= (p.Gln696=)
c.208C= (p.Gln70=)
n.297C=
22g.41147869C>GCA411689997EP300c.*84C>G (n.*84C>G)
c.1954C>G
c.2164C>G (p.Gln722Glu)
c.2086C>G (p.Gln696Glu)
c.208C>G (p.Gln70Glu)
n.297C>G
22g.41147869C>TCA411689999EP300c.*84C>T (n.*84C>T)
c.1954C>T
c.2164C>T (p.Gln722Ter)
c.2086C>T (p.Gln696Ter)
c.208C>T (p.Gln70Ter)
n.297C>T
 dbSNP
22g.41147870A=CA2406101897EP300c.*85A= (n.*85A=)
c.1955A=
c.2165A= (p.Gln722=)
c.2087A= (p.Gln696=)
c.209A= (p.Gln70=)
n.298A=
22g.41147870A>CCA411690003EP300c.*85A>C (n.*85A>C)
c.1955A>C
c.2165A>C (p.Gln722Pro)
c.2087A>C (p.Gln696Pro)
c.209A>C (p.Gln70Pro)
n.298A>C
 dbSNP
22g.41147870A>GCA10252767EP300c.*85A>G (n.*85A>G)
c.1955A>G
c.2165A>G (p.Gln722Arg)
c.2087A>G (p.Gln696Arg)
c.209A>G (p.Gln70Arg)
n.298A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.41147870A>TCA411690001EP300c.*85A>T (n.*85A>T)
c.1955A>T
c.2165A>T (p.Gln722Leu)
c.2087A>T (p.Gln696Leu)
c.209A>T (p.Gln70Leu)
n.298A>T
 dbSNP gnomAD v4
22g.41147871G>ACA514640192EP300c.*86G>A (n.*86G>A)
c.1956G>A
c.2166G>A (p.Gln722=)
c.2088G>A (p.Gln696=)
c.210G>A (p.Gln70=)
n.299G>A
 dbSNP
22g.41147871G>CCA411690004EP300c.*86G>C (n.*86G>C)
c.1956G>C
c.2166G>C (p.Gln722His)
c.2088G>C (p.Gln696His)
c.210G>C (p.Gln70His)
n.299G>C
22g.41147871G>TCA411690005EP300c.*86G>T (n.*86G>T)
c.1956G>T
c.2166G>T (p.Gln722His)
c.2088G>T (p.Gln696His)
c.210G>T (p.Gln70His)
n.299G>T
22g.41147872C>ACA411690007EP300c.*87C>A (n.*87C>A)
c.1957C>A
c.2167C>A (p.Pro723Thr)
c.2089C>A (p.Pro697Thr)
c.211C>A (p.Pro71Thr)
n.300C>A
 ClinVar dbSNP
22g.41147872C=CA2406101898EP300c.*87C= (n.*87C=)
c.1957C=
c.2167C= (p.Pro723=)
c.2089C= (p.Pro697=)
c.211C= (p.Pro71=)
n.300C=
22g.41147872C>GCA411690009EP300c.*87C>G (n.*87C>G)
c.1957C>G
c.2167C>G (p.Pro723Ala)
c.2089C>G (p.Pro697Ala)
c.211C>G (p.Pro71Ala)
n.300C>G
 dbSNP
22g.41147872C>TCA10252768EP300c.*87C>T (n.*87C>T)
c.1957C>T
c.2167C>T (p.Pro723Ser)
c.2089C>T (p.Pro697Ser)
c.211C>T (p.Pro71Ser)
n.300C>T
 dbSNP ExAC gnomAD v4
22g.41147873C>ACA411690011EP300c.*88C>A (n.*88C>A)
c.1958C>A
c.2168C>A (p.Pro723His)
c.2090C>A (p.Pro697His)
c.212C>A (p.Pro71His)
n.301C>A
 dbSNP
22g.41147873C>GCA411690013EP300c.*88C>G (n.*88C>G)
c.1958C>G
c.2168C>G (p.Pro723Arg)
c.2090C>G (p.Pro697Arg)
c.212C>G (p.Pro71Arg)
n.301C>G
 dbSNP
22g.41147873C>TCA411690012EP300c.*88C>T (n.*88C>T)
c.1958C>T
c.2168C>T (p.Pro723Leu)
c.2090C>T (p.Pro697Leu)
c.212C>T (p.Pro71Leu)
n.301C>T
 dbSNP
22g.41147874C>ACA514640218EP300c.*89C>A (n.*89C>A)
c.1959C>A
c.2169C>A (p.Pro723=)
c.2091C>A (p.Pro697=)
c.213C>A (p.Pro71=)
n.302C>A
 dbSNP
22g.41147874C=CA2406101899EP300c.*89C= (n.*89C=)
c.1959C=
c.2169C= (p.Pro723=)
c.2091C= (p.Pro697=)
c.213C= (p.Pro71=)
n.302C=
22g.41147874C>GCA324534712EP300c.*89C>G (n.*89C>G)
c.1959C>G
c.2169C>G (p.Pro723=)
c.2091C>G (p.Pro697=)
c.213C>G (p.Pro71=)
n.302C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.41147874C>TCA514640215EP300c.*89C>T (n.*89C>T)
c.1959C>T
c.2169C>T (p.Pro723=)
c.2091C>T (p.Pro697=)
c.213C>T (p.Pro71=)
n.302C>T
 dbSNP
22g.41147875C>ACA411690015EP300c.*90C>A (n.*90C>A)
c.1960C>A
c.2170C>A (p.Pro724Thr)
c.2092C>A (p.Pro698Thr)
c.214C>A (p.Pro72Thr)
n.303C>A
22g.41147875C=CA2406101900EP300c.*90C= (n.*90C=)
c.1960C=
c.2170C= (p.Pro724=)
c.2092C= (p.Pro698=)
c.214C= (p.Pro72=)
n.303C=
22g.41147875C>GCA10252769EP300c.*90C>G (n.*90C>G)
c.1960C>G
c.2170C>G (p.Pro724Ala)
c.2092C>G (p.Pro698Ala)
c.214C>G (p.Pro72Ala)
n.303C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
22g.41147875C>TCA411690017EP300c.*90C>T (n.*90C>T)
c.1960C>T
c.2170C>T (p.Pro724Ser)
c.2092C>T (p.Pro698Ser)
c.214C>T (p.Pro72Ser)
n.303C>T
 dbSNP
22g.41147876C>ACA411690019EP300c.*91C>A (n.*91C>A)
c.1961C>A
c.2171C>A (p.Pro724His)
c.2093C>A (p.Pro698His)
c.215C>A (p.Pro72His)
n.304C>A
 dbSNP
22g.41147876C=CA2406101901EP300c.*91C= (n.*91C=)
c.1961C=
c.2171C= (p.Pro724=)
c.2093C= (p.Pro698=)
c.215C= (p.Pro72=)
n.304C=
22g.41147876C>GCA324534716EP300c.*91C>G (n.*91C>G)
c.1961C>G
c.2171C>G (p.Pro724Arg)
c.2093C>G (p.Pro698Arg)
c.215C>G (p.Pro72Arg)
n.304C>G
 dbSNP gnomAD v4
22g.41147876C>TCA411690020EP300c.*91C>T (n.*91C>T)
c.1961C>T
c.2171C>T (p.Pro724Leu)
c.2093C>T (p.Pro698Leu)
c.215C>T (p.Pro72Leu)
n.304C>T
 dbSNP
22g.41147877T>ACA514640246EP300c.*92T>A (n.*92T>A)
c.1962T>A
c.2172T>A (p.Pro724=)
c.2094T>A (p.Pro698=)
c.216T>A (p.Pro72=)
n.305T>A
 gnomAD v4
22g.41147877T>CCA514640242EP300c.*92T>C (n.*92T>C)
c.1962T>C
c.2172T>C (p.Pro724=)
c.2094T>C (p.Pro698=)
c.216T>C (p.Pro72=)
n.305T>C
 dbSNP
22g.41147877T>GCA514640239EP300c.*92T>G (n.*92T>G)
c.1962T>G
c.2172T>G (p.Pro724=)
c.2094T>G (p.Pro698=)
c.216T>G (p.Pro72=)
n.305T>G
22g.41147878A=CA2406101902EP300c.*93A= (n.*93A=)
c.1963A=
c.2173A= (p.Ile725=)
c.2095A= (p.Ile699=)
c.217A= (p.Ile73=)
n.306A=
22g.41147878A>CCA411690022EP300c.*93A>C (n.*93A>C)
c.1963A>C
c.2173A>C (p.Ile725Leu)
c.2095A>C (p.Ile699Leu)
c.217A>C (p.Ile73Leu)
n.306A>C
 gnomAD v4
22g.41147878A>GCA158483EP300c.*93A>G (n.*93A>G)
c.1963A>G
c.2173A>G (p.Ile725Val)
c.2095A>G (p.Ile699Val)
c.217A>G (p.Ile73Val)
n.306A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.41147878A>TCA411690024EP300c.*93A>T (n.*93A>T)
c.1963A>T
c.2173A>T (p.Ile725Phe)
c.2095A>T (p.Ile699Phe)
c.217A>T (p.Ile73Phe)
n.306A>T
 dbSNP gnomAD v4
22g.41147879T>ACA411690025EP300c.*94T>A (n.*94T>A)
c.1964T>A
c.2174T>A (p.Ile725Asn)
c.2096T>A (p.Ile699Asn)
c.218T>A (p.Ile73Asn)
n.307T>A
 dbSNP
22g.41147879T>CCA10252770EP300c.*94T>C (n.*94T>C)
c.1964T>C
c.2174T>C (p.Ile725Thr)
c.2096T>C (p.Ile699Thr)
c.218T>C (p.Ile73Thr)
n.307T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.41147879T>GCA411690027EP300c.*94T>G (n.*94T>G)
c.1964T>G
c.2174T>G (p.Ile725Ser)
c.2096T>G (p.Ile699Ser)
c.218T>G (p.Ile73Ser)
n.307T>G
22g.41147879T=CA2406101903EP300c.*94T= (n.*94T=)
c.1964T=
c.2174T= (p.Ile725=)
c.2096T= (p.Ile699=)
c.218T= (p.Ile73=)
n.307T=
22g.41147880T>ACA514640265EP300c.*95T>A (n.*95T>A)
c.1965T>A
c.2175T>A (p.Ile725=)
c.2097T>A (p.Ile699=)
c.219T>A (p.Ile73=)
n.308T>A
 gnomAD v4

Number of alleles fetched