Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.44951812T>A | CA402321431 | SETBP1 | c.2472T>A (p.Ser824Arg) c.2550T>A (p.Ser850Arg) c.1995T>A (p.Ser665Arg) | |
18 | g.44951812T>C | CA503982072 | SETBP1 | c.2472T>C (p.Ser824=) c.2550T>C (p.Ser850=) c.1995T>C (p.Ser665=) | |
18 | g.44951812T>G | CA402321430 | SETBP1 | c.2472T>G (p.Ser824Arg) c.2550T>G (p.Ser850Arg) c.1995T>G (p.Ser665Arg) | |
18 | g.44951813G>A | CA402321433 | SETBP1 | c.2473G>A (p.Gly825Arg) c.2551G>A (p.Gly851Arg) c.1996G>A (p.Gly666Arg) | |
18 | g.44951813G>C | CA402321436 | SETBP1 | c.2473G>C (p.Gly825Arg) c.2551G>C (p.Gly851Arg) c.1996G>C (p.Gly666Arg) | |
18 | g.44951813G>T | CA402321435 | SETBP1 | c.2473G>T (p.Gly825Ter) c.2551G>T (p.Gly851Ter) c.1996G>T (p.Gly666Ter) | |
18 | g.44951814G>A | CA402321437 | SETBP1 | c.2474G>A (p.Gly825Glu) c.2552G>A (p.Gly851Glu) c.1997G>A (p.Gly666Glu) | |
18 | g.44951814G>C | CA402321440 | SETBP1 | c.2474G>C (p.Gly825Ala) c.2552G>C (p.Gly851Ala) c.1997G>C (p.Gly666Ala) | |
18 | g.44951814G>T | CA402321439 | SETBP1 | c.2474G>T (p.Gly825Val) c.2552G>T (p.Gly851Val) c.1997G>T (p.Gly666Val) | |
18 | g.44951815A>C | CA503982078 | SETBP1 | c.2475A>C (p.Gly825=) c.2553A>C (p.Gly851=) c.1998A>C (p.Gly666=) | |
18 | g.44951815A>G | CA503982077 | SETBP1 | c.2475A>G (p.Gly825=) c.2553A>G (p.Gly851=) c.1998A>G (p.Gly666=) | |
18 | g.44951815A>T | CA503982076 | SETBP1 | c.2475A>T (p.Gly825=) c.2553A>T (p.Gly851=) c.1998A>T (p.Gly666=) | |
18 | g.44951816A>C | CA402321441 | SETBP1 | c.2476A>C (p.Thr826Pro) c.2554A>C (p.Thr852Pro) c.1999A>C (p.Thr667Pro) | |
18 | g.44951816A>G | CA402321443 | SETBP1 | c.2476A>G (p.Thr826Ala) c.2554A>G (p.Thr852Ala) c.1999A>G (p.Thr667Ala) | |
18 | g.44951816A>T | CA402321445 | SETBP1 | c.2476A>T (p.Thr826Ser) c.2554A>T (p.Thr852Ser) c.1999A>T (p.Thr667Ser) | |
18 | g.44951817C>A | CA402321446 | SETBP1 | c.2477C>A (p.Thr826Asn) c.2555C>A (p.Thr852Asn) c.2000C>A (p.Thr667Asn) | |
18 | g.44951817C>G | CA402321448 | SETBP1 | c.2477C>G (p.Thr826Ser) c.2555C>G (p.Thr852Ser) c.2000C>G (p.Thr667Ser) | |
18 | g.44951817C>T | CA402321449 | SETBP1 | c.2477C>T (p.Thr826Ile) c.2555C>T (p.Thr852Ile) c.2000C>T (p.Thr667Ile) | |
18 | g.44951818C>A | CA503982081 | SETBP1 | c.2478C>A (p.Thr826=) c.2556C>A (p.Thr852=) c.2001C>A (p.Thr667=) | |
18 | g.44951818C>G | CA503982082 | SETBP1 | c.2478C>G (p.Thr826=) c.2556C>G (p.Thr852=) c.2001C>G (p.Thr667=) | |
18 | g.44951818C>T | CA503982083 | SETBP1 | c.2478C>T (p.Thr826=) c.2556C>T (p.Thr852=) c.2001C>T (p.Thr667=) | gnomAD v4 |
18 | g.44951819T>A | CA402321454 | SETBP1 | c.2479T>A (p.Trp827Arg) c.2557T>A (p.Trp853Arg) c.2002T>A (p.Trp668Arg) | |
18 | g.44951819T>C | CA402321452 | SETBP1 | c.2479T>C (p.Trp827Arg) c.2557T>C (p.Trp853Arg) c.2002T>C (p.Trp668Arg) | ClinVar dbSNP |
18 | g.44951819T>G | CA402321451 | SETBP1 | c.2479T>G (p.Trp827Gly) c.2557T>G (p.Trp853Gly) c.2002T>G (p.Trp668Gly) | |
18 | g.44951819T= | CA2300140744 | SETBP1 | c.2479T= (p.Trp827=) c.2557T= (p.Trp853=) c.2002T= (p.Trp668=) | |
18 | g.44951820G>A | CA402321455 | SETBP1 | c.2480G>A (p.Trp827Ter) c.2558G>A (p.Trp853Ter) c.2003G>A (p.Trp668Ter) | ClinVar dbSNP |
18 | g.44951820G>C | CA402321456 | SETBP1 | c.2480G>C (p.Trp827Ser) c.2558G>C (p.Trp853Ser) c.2003G>C (p.Trp668Ser) | |
18 | g.44951820G>T | CA402321457 | SETBP1 | c.2480G>T (p.Trp827Leu) c.2558G>T (p.Trp853Leu) c.2003G>T (p.Trp668Leu) | |
18 | g.44951821G>A | CA402321458 | SETBP1 | c.2481G>A (p.Trp827Ter) c.2559G>A (p.Trp853Ter) c.2004G>A (p.Trp668Ter) | COSMIC |
18 | g.44951821G>C | CA402321460 | SETBP1 | c.2481G>C (p.Trp827Cys) c.2559G>C (p.Trp853Cys) c.2004G>C (p.Trp668Cys) | |
18 | g.44951821G>T | CA402321461 | SETBP1 | c.2481G>T (p.Trp827Cys) c.2559G>T (p.Trp853Cys) c.2004G>T (p.Trp668Cys) | |
18 | g.44951822A>C | CA402321462 | SETBP1 | c.2482A>C (p.Lys828Gln) c.2560A>C (p.Lys854Gln) c.2005A>C (p.Lys669Gln) | |
18 | g.44951822A>G | CA402321464 | SETBP1 | c.2482A>G (p.Lys828Glu) c.2560A>G (p.Lys854Glu) c.2005A>G (p.Lys669Glu) | |
18 | g.44951822A>T | CA402321463 | SETBP1 | c.2482A>T (p.Lys828Ter) c.2560A>T (p.Lys854Ter) c.2005A>T (p.Lys669Ter) | |
18 | g.44951823A= | CA2300140745 | SETBP1 | c.2483A= (p.Lys828=) c.2561A= (p.Lys854=) c.2006A= (p.Lys669=) | |
18 | g.44951823A>C | CA402321466 | SETBP1 | c.2483A>C (p.Lys828Thr) c.2561A>C (p.Lys854Thr) c.2006A>C (p.Lys669Thr) | |
18 | g.44951823A>G | CA402321468 | SETBP1 | c.2483A>G (p.Lys828Arg) c.2561A>G (p.Lys854Arg) c.2006A>G (p.Lys669Arg) | dbSNP |
18 | g.44951823A>T | CA402321469 | SETBP1 | c.2483A>T (p.Lys828Met) c.2561A>T (p.Lys854Met) c.2006A>T (p.Lys669Met) | |
18 | g.44951824G>A | CA299698529 | SETBP1 | c.2484G>A (p.Lys828=) c.2562G>A (p.Lys854=) c.2007G>A (p.Lys669=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951824G>C | CA402321471 | SETBP1 | c.2484G>C (p.Lys828Asn) c.2562G>C (p.Lys854Asn) c.2007G>C (p.Lys669Asn) | gnomAD v4 |
18 | g.44951824G= | CA2300140746 | SETBP1 | c.2484G= (p.Lys828=) c.2562G= (p.Lys854=) c.2007G= (p.Lys669=) | |
18 | g.44951824G>T | CA402321473 | SETBP1 | c.2484G>T (p.Lys828Asn) c.2562G>T (p.Lys854Asn) c.2007G>T (p.Lys669Asn) | |
18 | g.44951825C>A | CA402321474 | SETBP1 | c.2485C>A (p.Leu829Met) c.2563C>A (p.Leu855Met) c.2008C>A (p.Leu670Met) | |
18 | g.44951825C= | CA2300140747 | SETBP1 | c.2485C= (p.Leu829=) c.2563C= (p.Leu855=) c.2008C= (p.Leu670=) | |
18 | g.44951825C>G | CA402321476 | SETBP1 | c.2485C>G (p.Leu829Val) c.2563C>G (p.Leu855Val) c.2008C>G (p.Leu670Val) | |
18 | g.44951825C>T | CA299698534 | SETBP1 | c.2485C>T (p.Leu829=) c.2563C>T (p.Leu855=) c.2008C>T (p.Leu670=) | dbSNP |
18 | g.44951826T>A | CA402321479 | SETBP1 | c.2486T>A (p.Leu829Gln) c.2564T>A (p.Leu855Gln) c.2009T>A (p.Leu670Gln) | dbSNP |
18 | g.44951826T>C | CA402321480 | SETBP1 | c.2486T>C (p.Leu829Pro) c.2564T>C (p.Leu855Pro) c.2009T>C (p.Leu670Pro) | |
18 | g.44951826T>G | CA402321481 | SETBP1 | c.2486T>G (p.Leu829Arg) c.2564T>G (p.Leu855Arg) c.2009T>G (p.Leu670Arg) | gnomAD v4 |
18 | g.44951826T= | CA2300140748 | SETBP1 | c.2486T= (p.Leu829=) c.2564T= (p.Leu855=) c.2009T= (p.Leu670=) |