Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.44951812T>ACA402321431SETBP1c.2472T>A (p.Ser824Arg)
c.2550T>A (p.Ser850Arg)
c.1995T>A (p.Ser665Arg)
18g.44951812T>CCA503982072SETBP1c.2472T>C (p.Ser824=)
c.2550T>C (p.Ser850=)
c.1995T>C (p.Ser665=)
18g.44951812T>GCA402321430SETBP1c.2472T>G (p.Ser824Arg)
c.2550T>G (p.Ser850Arg)
c.1995T>G (p.Ser665Arg)
18g.44951813G>ACA402321433SETBP1c.2473G>A (p.Gly825Arg)
c.2551G>A (p.Gly851Arg)
c.1996G>A (p.Gly666Arg)
18g.44951813G>CCA402321436SETBP1c.2473G>C (p.Gly825Arg)
c.2551G>C (p.Gly851Arg)
c.1996G>C (p.Gly666Arg)
18g.44951813G>TCA402321435SETBP1c.2473G>T (p.Gly825Ter)
c.2551G>T (p.Gly851Ter)
c.1996G>T (p.Gly666Ter)
18g.44951814G>ACA402321437SETBP1c.2474G>A (p.Gly825Glu)
c.2552G>A (p.Gly851Glu)
c.1997G>A (p.Gly666Glu)
18g.44951814G>CCA402321440SETBP1c.2474G>C (p.Gly825Ala)
c.2552G>C (p.Gly851Ala)
c.1997G>C (p.Gly666Ala)
18g.44951814G>TCA402321439SETBP1c.2474G>T (p.Gly825Val)
c.2552G>T (p.Gly851Val)
c.1997G>T (p.Gly666Val)
18g.44951815A>CCA503982078SETBP1c.2475A>C (p.Gly825=)
c.2553A>C (p.Gly851=)
c.1998A>C (p.Gly666=)
18g.44951815A>GCA503982077SETBP1c.2475A>G (p.Gly825=)
c.2553A>G (p.Gly851=)
c.1998A>G (p.Gly666=)
18g.44951815A>TCA503982076SETBP1c.2475A>T (p.Gly825=)
c.2553A>T (p.Gly851=)
c.1998A>T (p.Gly666=)
18g.44951816A>CCA402321441SETBP1c.2476A>C (p.Thr826Pro)
c.2554A>C (p.Thr852Pro)
c.1999A>C (p.Thr667Pro)
18g.44951816A>GCA402321443SETBP1c.2476A>G (p.Thr826Ala)
c.2554A>G (p.Thr852Ala)
c.1999A>G (p.Thr667Ala)
18g.44951816A>TCA402321445SETBP1c.2476A>T (p.Thr826Ser)
c.2554A>T (p.Thr852Ser)
c.1999A>T (p.Thr667Ser)
18g.44951817C>ACA402321446SETBP1c.2477C>A (p.Thr826Asn)
c.2555C>A (p.Thr852Asn)
c.2000C>A (p.Thr667Asn)
18g.44951817C>GCA402321448SETBP1c.2477C>G (p.Thr826Ser)
c.2555C>G (p.Thr852Ser)
c.2000C>G (p.Thr667Ser)
18g.44951817C>TCA402321449SETBP1c.2477C>T (p.Thr826Ile)
c.2555C>T (p.Thr852Ile)
c.2000C>T (p.Thr667Ile)
18g.44951818C>ACA503982081SETBP1c.2478C>A (p.Thr826=)
c.2556C>A (p.Thr852=)
c.2001C>A (p.Thr667=)
18g.44951818C>GCA503982082SETBP1c.2478C>G (p.Thr826=)
c.2556C>G (p.Thr852=)
c.2001C>G (p.Thr667=)
18g.44951818C>TCA503982083SETBP1c.2478C>T (p.Thr826=)
c.2556C>T (p.Thr852=)
c.2001C>T (p.Thr667=)
gnomAD v4
18g.44951819T>ACA402321454SETBP1c.2479T>A (p.Trp827Arg)
c.2557T>A (p.Trp853Arg)
c.2002T>A (p.Trp668Arg)
18g.44951819T>CCA402321452SETBP1c.2479T>C (p.Trp827Arg)
c.2557T>C (p.Trp853Arg)
c.2002T>C (p.Trp668Arg)
ClinVar dbSNP
18g.44951819T>GCA402321451SETBP1c.2479T>G (p.Trp827Gly)
c.2557T>G (p.Trp853Gly)
c.2002T>G (p.Trp668Gly)
18g.44951819T=CA2300140744SETBP1c.2479T= (p.Trp827=)
c.2557T= (p.Trp853=)
c.2002T= (p.Trp668=)
18g.44951820G>ACA402321455SETBP1c.2480G>A (p.Trp827Ter)
c.2558G>A (p.Trp853Ter)
c.2003G>A (p.Trp668Ter)
ClinVar dbSNP
18g.44951820G>CCA402321456SETBP1c.2480G>C (p.Trp827Ser)
c.2558G>C (p.Trp853Ser)
c.2003G>C (p.Trp668Ser)
18g.44951820G>TCA402321457SETBP1c.2480G>T (p.Trp827Leu)
c.2558G>T (p.Trp853Leu)
c.2003G>T (p.Trp668Leu)
18g.44951821G>ACA402321458SETBP1c.2481G>A (p.Trp827Ter)
c.2559G>A (p.Trp853Ter)
c.2004G>A (p.Trp668Ter)
COSMIC
18g.44951821G>CCA402321460SETBP1c.2481G>C (p.Trp827Cys)
c.2559G>C (p.Trp853Cys)
c.2004G>C (p.Trp668Cys)
18g.44951821G>TCA402321461SETBP1c.2481G>T (p.Trp827Cys)
c.2559G>T (p.Trp853Cys)
c.2004G>T (p.Trp668Cys)
18g.44951822A>CCA402321462SETBP1c.2482A>C (p.Lys828Gln)
c.2560A>C (p.Lys854Gln)
c.2005A>C (p.Lys669Gln)
18g.44951822A>GCA402321464SETBP1c.2482A>G (p.Lys828Glu)
c.2560A>G (p.Lys854Glu)
c.2005A>G (p.Lys669Glu)
18g.44951822A>TCA402321463SETBP1c.2482A>T (p.Lys828Ter)
c.2560A>T (p.Lys854Ter)
c.2005A>T (p.Lys669Ter)
18g.44951823A=CA2300140745SETBP1c.2483A= (p.Lys828=)
c.2561A= (p.Lys854=)
c.2006A= (p.Lys669=)
18g.44951823A>CCA402321466SETBP1c.2483A>C (p.Lys828Thr)
c.2561A>C (p.Lys854Thr)
c.2006A>C (p.Lys669Thr)
18g.44951823A>GCA402321468SETBP1c.2483A>G (p.Lys828Arg)
c.2561A>G (p.Lys854Arg)
c.2006A>G (p.Lys669Arg)
dbSNP
18g.44951823A>TCA402321469SETBP1c.2483A>T (p.Lys828Met)
c.2561A>T (p.Lys854Met)
c.2006A>T (p.Lys669Met)
18g.44951824G>ACA299698529SETBP1c.2484G>A (p.Lys828=)
c.2562G>A (p.Lys854=)
c.2007G>A (p.Lys669=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44951824G>CCA402321471SETBP1c.2484G>C (p.Lys828Asn)
c.2562G>C (p.Lys854Asn)
c.2007G>C (p.Lys669Asn)
gnomAD v4
18g.44951824G=CA2300140746SETBP1c.2484G= (p.Lys828=)
c.2562G= (p.Lys854=)
c.2007G= (p.Lys669=)
18g.44951824G>TCA402321473SETBP1c.2484G>T (p.Lys828Asn)
c.2562G>T (p.Lys854Asn)
c.2007G>T (p.Lys669Asn)
18g.44951825C>ACA402321474SETBP1c.2485C>A (p.Leu829Met)
c.2563C>A (p.Leu855Met)
c.2008C>A (p.Leu670Met)
18g.44951825C=CA2300140747SETBP1c.2485C= (p.Leu829=)
c.2563C= (p.Leu855=)
c.2008C= (p.Leu670=)
18g.44951825C>GCA402321476SETBP1c.2485C>G (p.Leu829Val)
c.2563C>G (p.Leu855Val)
c.2008C>G (p.Leu670Val)
18g.44951825C>TCA299698534SETBP1c.2485C>T (p.Leu829=)
c.2563C>T (p.Leu855=)
c.2008C>T (p.Leu670=)
dbSNP
18g.44951826T>ACA402321479SETBP1c.2486T>A (p.Leu829Gln)
c.2564T>A (p.Leu855Gln)
c.2009T>A (p.Leu670Gln)
dbSNP
18g.44951826T>CCA402321480SETBP1c.2486T>C (p.Leu829Pro)
c.2564T>C (p.Leu855Pro)
c.2009T>C (p.Leu670Pro)
18g.44951826T>GCA402321481SETBP1c.2486T>G (p.Leu829Arg)
c.2564T>G (p.Leu855Arg)
c.2009T>G (p.Leu670Arg)
gnomAD v4
18g.44951826T=CA2300140748SETBP1c.2486T= (p.Leu829=)
c.2564T= (p.Leu855=)
c.2009T= (p.Leu670=)

Number of alleles fetched