Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.44951864C>A | CA402321606 | SETBP1 | c.2524C>A (p.Leu842Met) c.2602C>A (p.Leu868Met) c.2047C>A (p.Leu683Met) | |
18 | g.44951864C>G | CA402321608 | SETBP1 | c.2524C>G (p.Leu842Val) c.2602C>G (p.Leu868Val) c.2047C>G (p.Leu683Val) | gnomAD v4 |
18 | g.44951864C>T | CA503982134 | SETBP1 | c.2524C>T (p.Leu842=) c.2602C>T (p.Leu868=) c.2047C>T (p.Leu683=) | |
18 | g.44951865T>A | CA402321610 | SETBP1 | c.2525T>A (p.Leu842Gln) c.2603T>A (p.Leu868Gln) c.2048T>A (p.Leu683Gln) | |
18 | g.44951865T>C | CA402321611 | SETBP1 | c.2525T>C (p.Leu842Pro) c.2603T>C (p.Leu868Pro) c.2048T>C (p.Leu683Pro) | |
18 | g.44951865T>G | CA402321612 | SETBP1 | c.2525T>G (p.Leu842Arg) c.2603T>G (p.Leu868Arg) c.2048T>G (p.Leu683Arg) | |
18 | g.44951866G>A | CA503982135 | SETBP1 | c.2526G>A (p.Leu842=) c.2604G>A (p.Leu868=) c.2049G>A (p.Leu683=) | |
18 | g.44951866G>C | CA503982136 | SETBP1 | c.2526G>C (p.Leu842=) c.2604G>C (p.Leu868=) c.2049G>C (p.Leu683=) | |
18 | g.44951866G>T | CA503982137 | SETBP1 | c.2526G>T (p.Leu842=) c.2604G>T (p.Leu868=) c.2049G>T (p.Leu683=) | |
18 | g.44951867T>A | CA402321613 | SETBP1 | c.2527T>A (p.Cys843Ser) c.2605T>A (p.Cys869Ser) c.2050T>A (p.Cys684Ser) | |
18 | g.44951867T>C | CA402321614 | SETBP1 | c.2527T>C (p.Cys843Arg) c.2605T>C (p.Cys869Arg) c.2050T>C (p.Cys684Arg) | |
18 | g.44951867T>G | CA402321615 | SETBP1 | c.2527T>G (p.Cys843Gly) c.2605T>G (p.Cys869Gly) c.2050T>G (p.Cys684Gly) | |
18 | g.44951868G>A | CA402321620 | SETBP1 | c.2528G>A (p.Cys843Tyr) c.2606G>A (p.Cys869Tyr) c.2051G>A (p.Cys684Tyr) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44951868G>C | CA402321619 | SETBP1 | c.2528G>C (p.Cys843Ser) c.2606G>C (p.Cys869Ser) c.2051G>C (p.Cys684Ser) | |
18 | g.44951868G= | CA2300140757 | SETBP1 | c.2528G= (p.Cys843=) c.2606G= (p.Cys869=) c.2051G= (p.Cys684=) | |
18 | g.44951868G>T | CA402321617 | SETBP1 | c.2528G>T (p.Cys843Phe) c.2606G>T (p.Cys869Phe) c.2051G>T (p.Cys684Phe) | |
18 | g.44951869C>A | CA402321623 | SETBP1 | c.2529C>A (p.Cys843Ter) c.2607C>A (p.Cys869Ter) c.2052C>A (p.Cys684Ter) | |
18 | g.44951869C= | CA2300140758 | SETBP1 | c.2529C= (p.Cys843=) c.2607C= (p.Cys869=) c.2052C= (p.Cys684=) | |
18 | g.44951869C>G | CA402321621 | SETBP1 | c.2529C>G (p.Cys843Trp) c.2607C>G (p.Cys869Trp) c.2052C>G (p.Cys684Trp) | |
18 | g.44951869C>T | CA8945756 | SETBP1 | c.2529C>T (p.Cys843=) c.2607C>T (p.Cys869=) c.2052C>T (p.Cys684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.44951870G>A | CA402321625 | SETBP1 | c.2530G>A (p.Glu844Lys) c.2608G>A (p.Glu870Lys) c.2053G>A (p.Glu685Lys) | ClinVar COSMIC |
18 | g.44951870G>C | CA402321626 | SETBP1 | c.2530G>C (p.Glu844Gln) c.2608G>C (p.Glu870Gln) c.2053G>C (p.Glu685Gln) | |
18 | g.44951870G>T | CA402321628 | SETBP1 | c.2530G>T (p.Glu844Ter) c.2608G>T (p.Glu870Ter) c.2053G>T (p.Glu685Ter) | |
18 | g.44951871A>C | CA402321629 | SETBP1 | c.2531A>C (p.Glu844Ala) c.2609A>C (p.Glu870Ala) c.2054A>C (p.Glu685Ala) | |
18 | g.44951871A>G | CA402321630 | SETBP1 | c.2531A>G (p.Glu844Gly) c.2609A>G (p.Glu870Gly) c.2054A>G (p.Glu685Gly) | |
18 | g.44951871A>T | CA402321632 | SETBP1 | c.2531A>T (p.Glu844Val) c.2609A>T (p.Glu870Val) c.2054A>T (p.Glu685Val) | |
18 | g.44951872G>A | CA503982141 | SETBP1 | c.2532G>A (p.Glu844=) c.2610G>A (p.Glu870=) c.2055G>A (p.Glu685=) | |
18 | g.44951872G>C | CA402321633 | SETBP1 | c.2532G>C (p.Glu844Asp) c.2610G>C (p.Glu870Asp) c.2055G>C (p.Glu685Asp) | |
18 | g.44951872G>T | CA402321635 | SETBP1 | c.2532G>T (p.Glu844Asp) c.2610G>T (p.Glu870Asp) c.2055G>T (p.Glu685Asp) | |
18 | g.44951873A>C | CA402321636 | SETBP1 | c.2533A>C (p.Ile845Leu) c.2611A>C (p.Ile871Leu) c.2056A>C (p.Ile686Leu) | |
18 | g.44951873A>G | CA402321638 | SETBP1 | c.2533A>G (p.Ile845Val) c.2611A>G (p.Ile871Val) c.2056A>G (p.Ile686Val) | |
18 | g.44951873A>T | CA402321639 | SETBP1 | c.2533A>T (p.Ile845Phe) c.2611A>T (p.Ile871Phe) c.2056A>T (p.Ile686Phe) | |
18 | g.44951874T>A | CA402321644 | SETBP1 | c.2534T>A (p.Ile845Asn) c.2612T>A (p.Ile871Asn) c.2057T>A (p.Ile686Asn) | |
18 | g.44951874T>C | CA402321643 | SETBP1 | c.2534T>C (p.Ile845Thr) c.2612T>C (p.Ile871Thr) c.2057T>C (p.Ile686Thr) | gnomAD v4 |
18 | g.44951874T>G | CA402321641 | SETBP1 | c.2534T>G (p.Ile845Ser) c.2612T>G (p.Ile871Ser) c.2057T>G (p.Ile686Ser) | gnomAD v4 |
18 | g.44951875T>A | CA503982144 | SETBP1 | c.2535T>A (p.Ile845=) c.2613T>A (p.Ile871=) c.2058T>A (p.Ile686=) | |
18 | g.44951875T>C | CA503982145 | SETBP1 | c.2535T>C (p.Ile845=) c.2613T>C (p.Ile871=) c.2058T>C (p.Ile686=) | |
18 | g.44951875T>G | CA402321646 | SETBP1 | c.2535T>G (p.Ile845Met) c.2613T>G (p.Ile871Met) c.2058T>G (p.Ile686Met) | |
18 | g.44951876G>A | CA402321647 | SETBP1 | c.2536G>A (p.Gly846Ser) c.2614G>A (p.Gly872Ser) c.2059G>A (p.Gly687Ser) | |
18 | g.44951876G>C | CA402321648 | SETBP1 | c.2536G>C (p.Gly846Arg) c.2614G>C (p.Gly872Arg) c.2059G>C (p.Gly687Arg) | |
18 | g.44951876G>T | CA402321650 | SETBP1 | c.2536G>T (p.Gly846Cys) c.2614G>T (p.Gly872Cys) c.2059G>T (p.Gly687Cys) | |
18 | g.44951877G>A | CA402321651 | SETBP1 | c.2537G>A (p.Gly846Asp) c.2615G>A (p.Gly872Asp) c.2060G>A (p.Gly687Asp) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44951877G>C | CA402321653 | SETBP1 | c.2537G>C (p.Gly846Ala) c.2615G>C (p.Gly872Ala) c.2060G>C (p.Gly687Ala) | |
18 | g.44951877G= | CA2300140759 | SETBP1 | c.2537G= (p.Gly846=) c.2615G= (p.Gly872=) c.2060G= (p.Gly687=) | |
18 | g.44951877G>T | CA402321654 | SETBP1 | c.2537G>T (p.Gly846Val) c.2615G>T (p.Gly872Val) c.2060G>T (p.Gly687Val) | |
18 | g.44951878C>A | CA503982149 | SETBP1 | c.2538C>A (p.Gly846=) c.2616C>A (p.Gly872=) c.2061C>A (p.Gly687=) | |
18 | g.44951878C= | CA2300140760 | SETBP1 | c.2538C= (p.Gly846=) c.2616C= (p.Gly872=) c.2061C= (p.Gly687=) | |
18 | g.44951878C>G | CA503982148 | SETBP1 | c.2538C>G (p.Gly846=) c.2616C>G (p.Gly872=) c.2061C>G (p.Gly687=) | |
18 | g.44951878C>T | CA299698553 | SETBP1 | c.2538C>T (p.Gly846=) c.2616C>T (p.Gly872=) c.2061C>T (p.Gly687=) | dbSNP |
18 | g.44951879T>A | CA402321657 | SETBP1 | c.2539T>A (p.Ser847Thr) c.2617T>A (p.Ser873Thr) c.2062T>A (p.Ser688Thr) | |
18 | g.44951879T>C | CA402321659 | SETBP1 | c.2539T>C (p.Ser847Pro) c.2617T>C (p.Ser873Pro) c.2062T>C (p.Ser688Pro) | gnomAD v4 |
18 | g.44951879T>G | CA402321660 | SETBP1 | c.2539T>G (p.Ser847Ala) c.2617T>G (p.Ser873Ala) c.2062T>G (p.Ser688Ala) | |
18 | g.44951880C>A | CA402321662 | SETBP1 | c.2540C>A (p.Ser847Tyr) c.2618C>A (p.Ser873Tyr) c.2063C>A (p.Ser688Tyr) | |
18 | g.44951880C= | CA2300140761 | SETBP1 | c.2540C= (p.Ser847=) c.2618C= (p.Ser873=) c.2063C= (p.Ser688=) | |
18 | g.44951880C>G | CA402321664 | SETBP1 | c.2540C>G (p.Ser847Cys) c.2618C>G (p.Ser873Cys) c.2063C>G (p.Ser688Cys) | ClinVar dbSNP |
18 | g.44951880C>T | CA402321665 | SETBP1 | c.2540C>T (p.Ser847Phe) c.2618C>T (p.Ser873Phe) c.2063C>T (p.Ser688Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951881C>A | CA503982155 | SETBP1 | c.2541C>A (p.Ser847=) c.2619C>A (p.Ser873=) c.2064C>A (p.Ser688=) | |
18 | g.44951881C>G | CA503982153 | SETBP1 | c.2541C>G (p.Ser847=) c.2619C>G (p.Ser873=) c.2064C>G (p.Ser688=) | |
18 | g.44951881C>T | CA503982151 | SETBP1 | c.2541C>T (p.Ser847=) c.2619C>T (p.Ser873=) c.2064C>T (p.Ser688=) | COSMIC |
18 | g.44951882C>A | CA402321667 | SETBP1 | c.2542C>A (p.Leu848Ile) c.2620C>A (p.Leu874Ile) c.2065C>A (p.Leu689Ile) | |
18 | g.44951882C= | CA2300140762 | SETBP1 | c.2542C= (p.Leu848=) c.2620C= (p.Leu874=) c.2065C= (p.Leu689=) | |
18 | g.44951882C>G | CA402321666 | SETBP1 | c.2542C>G (p.Leu848Val) c.2620C>G (p.Leu874Val) c.2065C>G (p.Leu689Val) | |
18 | g.44951882C>T | CA8945757 | SETBP1 | c.2542C>T (p.Leu848=) c.2620C>T (p.Leu874=) c.2065C>T (p.Leu689=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
18 | g.44951883T>A | CA402321668 | SETBP1 | c.2543T>A (p.Leu848Gln) c.2621T>A (p.Leu874Gln) c.2066T>A (p.Leu689Gln) | |
18 | g.44951883T>C | CA402321669 | SETBP1 | c.2543T>C (p.Leu848Pro) c.2621T>C (p.Leu874Pro) c.2066T>C (p.Leu689Pro) | |
18 | g.44951883T>G | CA402321670 | SETBP1 | c.2543T>G (p.Leu848Arg) c.2621T>G (p.Leu874Arg) c.2066T>G (p.Leu689Arg) | |
18 | g.44951884A= | CA2300140763 | SETBP1 | c.2544A= (p.Leu848=) c.2622A= (p.Leu874=) c.2067A= (p.Leu689=) | |
18 | g.44951884A>C | CA503982156 | SETBP1 | c.2544A>C (p.Leu848=) c.2622A>C (p.Leu874=) c.2067A>C (p.Leu689=) | |
18 | g.44951884A>G | CA503982158 | SETBP1 | c.2544A>G (p.Leu848=) c.2622A>G (p.Leu874=) c.2067A>G (p.Leu689=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44951884A>T | CA503982157 | SETBP1 | c.2544A>T (p.Leu848=) c.2622A>T (p.Leu874=) c.2067A>T (p.Leu689=) | |
18 | g.44951885A>C | CA402321671 | SETBP1 | c.2545A>C (p.Lys849Gln) c.2623A>C (p.Lys875Gln) c.2068A>C (p.Lys690Gln) | |
18 | g.44951885A>G | CA402321672 | SETBP1 | c.2545A>G (p.Lys849Glu) c.2623A>G (p.Lys875Glu) c.2068A>G (p.Lys690Glu) | |
18 | g.44951885A>T | CA402321673 | SETBP1 | c.2545A>T (p.Lys849Ter) c.2623A>T (p.Lys875Ter) c.2068A>T (p.Lys690Ter) | |
18 | g.44951886A= | CA2300140764 | SETBP1 | c.2546A= (p.Lys849=) c.2624A= (p.Lys875=) c.2069A= (p.Lys690=) | |
18 | g.44951886A>C | CA402321676 | SETBP1 | c.2546A>C (p.Lys849Thr) c.2624A>C (p.Lys875Thr) c.2069A>C (p.Lys690Thr) | |
18 | g.44951886A>G | CA402321674 | SETBP1 | c.2546A>G (p.Lys849Arg) c.2624A>G (p.Lys875Arg) c.2069A>G (p.Lys690Arg) | dbSNP |
18 | g.44951886A>T | CA402321675 | SETBP1 | c.2546A>T (p.Lys849Met) c.2624A>T (p.Lys875Met) c.2069A>T (p.Lys690Met) | dbSNP |
18 | g.44951887G>A | CA503982160 | SETBP1 | c.2547G>A (p.Lys849=) c.2625G>A (p.Lys875=) c.2070G>A (p.Lys690=) | gnomAD v4 |
18 | g.44951887G>C | CA402321677 | SETBP1 | c.2547G>C (p.Lys849Asn) c.2625G>C (p.Lys875Asn) c.2070G>C (p.Lys690Asn) | |
18 | g.44951887G>T | CA402321678 | SETBP1 | c.2547G>T (p.Lys849Asn) c.2625G>T (p.Lys875Asn) c.2070G>T (p.Lys690Asn) | |
18 | g.44951888G>A | CA402321679 | SETBP1 | c.2548G>A (p.Glu850Lys) c.2626G>A (p.Glu876Lys) c.2071G>A (p.Glu691Lys) | |
18 | g.44951888G>C | CA402321680 | SETBP1 | c.2548G>C (p.Glu850Gln) c.2626G>C (p.Glu876Gln) c.2071G>C (p.Glu691Gln) | |
18 | g.44951888G>T | CA402321681 | SETBP1 | c.2548G>T (p.Glu850Ter) c.2626G>T (p.Glu876Ter) c.2071G>T (p.Glu691Ter) | |
18 | g.44951889A>C | CA402321684 | SETBP1 | c.2549A>C (p.Glu850Ala) c.2627A>C (p.Glu876Ala) c.2072A>C (p.Glu691Ala) | |
18 | g.44951889A>G | CA402321682 | SETBP1 | c.2549A>G (p.Glu850Gly) c.2627A>G (p.Glu876Gly) c.2072A>G (p.Glu691Gly) | |
18 | g.44951889A>T | CA402321683 | SETBP1 | c.2549A>T (p.Glu850Val) c.2627A>T (p.Glu876Val) c.2072A>T (p.Glu691Val) | |
18 | g.44951890A>C | CA402321685 | SETBP1 | c.2550A>C (p.Glu850Asp) c.2628A>C (p.Glu876Asp) c.2073A>C (p.Glu691Asp) | |
18 | g.44951890A>G | CA503982162 | SETBP1 | c.2550A>G (p.Glu850=) c.2628A>G (p.Glu876=) c.2073A>G (p.Glu691=) | |
18 | g.44951890A>T | CA402321686 | SETBP1 | c.2550A>T (p.Glu850Asp) c.2628A>T (p.Glu876Asp) c.2073A>T (p.Glu691Asp) | gnomAD v4 |
18 | g.44951891A>C | CA402321687 | SETBP1 | c.2551A>C (p.Ile851Leu) c.2629A>C (p.Ile877Leu) c.2074A>C (p.Ile692Leu) | |
18 | g.44951891A>G | CA402321688 | SETBP1 | c.2551A>G (p.Ile851Val) c.2629A>G (p.Ile877Val) c.2074A>G (p.Ile692Val) | |
18 | g.44951891A>T | CA402321689 | SETBP1 | c.2551A>T (p.Ile851Phe) c.2629A>T (p.Ile877Phe) c.2074A>T (p.Ile692Phe) | |
18 | g.44951892T>A | CA402321690 | SETBP1 | c.2552T>A (p.Ile851Asn) c.2630T>A (p.Ile877Asn) c.2075T>A (p.Ile692Asn) | |
18 | g.44951892T>C | CA402321691 | SETBP1 | c.2552T>C (p.Ile851Thr) c.2630T>C (p.Ile877Thr) c.2075T>C (p.Ile692Thr) | |
18 | g.44951892T>G | CA402321692 | SETBP1 | c.2552T>G (p.Ile851Ser) c.2630T>G (p.Ile877Ser) c.2075T>G (p.Ile692Ser) | |
18 | g.44951893C>A | CA503982164 | SETBP1 | c.2553C>A (p.Ile851=) c.2631C>A (p.Ile877=) c.2076C>A (p.Ile692=) | gnomAD v4 |
18 | g.44951893C= | CA2300140765 | SETBP1 | c.2553C= (p.Ile851=) c.2631C= (p.Ile877=) c.2076C= (p.Ile692=) | |
18 | g.44951893C>G | CA402321693 | SETBP1 | c.2553C>G (p.Ile851Met) c.2631C>G (p.Ile877Met) c.2076C>G (p.Ile692Met) | |
18 | g.44951893C>T | CA503982165 | SETBP1 | c.2553C>T (p.Ile851=) c.2631C>T (p.Ile877=) c.2076C>T (p.Ile692=) | dbSNP |
18 | g.44951894A>C | CA402321694 | SETBP1 | c.2554A>C (p.Thr852Pro) c.2632A>C (p.Thr878Pro) c.2077A>C (p.Thr693Pro) | |
18 | g.44951894A>G | CA402321695 | SETBP1 | c.2554A>G (p.Thr852Ala) c.2632A>G (p.Thr878Ala) c.2077A>G (p.Thr693Ala) | |
18 | g.44951894A>T | CA402321696 | SETBP1 | c.2554A>T (p.Thr852Ser) c.2632A>T (p.Thr878Ser) c.2077A>T (p.Thr693Ser) | |
18 | g.44951895C>A | CA402321697 | SETBP1 | c.2555C>A (p.Thr852Lys) c.2633C>A (p.Thr878Lys) c.2078C>A (p.Thr693Lys) | |
18 | g.44951895C= | CA2300140766 | SETBP1 | c.2555C= (p.Thr852=) c.2633C= (p.Thr878=) c.2078C= (p.Thr693=) | |
18 | g.44951895C>G | CA402321698 | SETBP1 | c.2555C>G (p.Thr852Arg) c.2633C>G (p.Thr878Arg) c.2078C>G (p.Thr693Arg) | |
18 | g.44951895C>T | CA8945758 | SETBP1 | c.2555C>T (p.Thr852Met) c.2633C>T (p.Thr878Met) c.2078C>T (p.Thr693Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.44951896G>A | CA8945760 | SETBP1 | c.2556G>A (p.Thr852=) c.2634G>A (p.Thr878=) c.2079G>A (p.Thr693=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951896G>C | CA8945759 | SETBP1 | c.2556G>C (p.Thr852=) c.2634G>C (p.Thr878=) c.2079G>C (p.Thr693=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951896G= | CA2300140767 | SETBP1 | c.2556G= (p.Thr852=) c.2634G= (p.Thr878=) c.2079G= (p.Thr693=) | |
18 | g.44951896G>T | CA299698564 | SETBP1 | c.2556G>T (p.Thr852=) c.2634G>T (p.Thr878=) c.2079G>T (p.Thr693=) | dbSNP |
18 | g.44951897C>A | CA402321699 | SETBP1 | c.2557C>A (p.Leu853Met) c.2635C>A (p.Leu879Met) c.2080C>A (p.Leu694Met) | COSMIC |
18 | g.44951897C>G | CA402321700 | SETBP1 | c.2557C>G (p.Leu853Val) c.2635C>G (p.Leu879Val) c.2080C>G (p.Leu694Val) | |
18 | g.44951897C>T | CA503982071 | SETBP1 | c.2557C>T (p.Leu853=) c.2635C>T (p.Leu879=) c.2080C>T (p.Leu694=) | gnomAD v4 |
18 | g.44951898T>A | CA402321701 | SETBP1 | c.2558T>A (p.Leu853Gln) c.2636T>A (p.Leu879Gln) c.2081T>A (p.Leu694Gln) | |
18 | g.44951898T>C | CA402321702 | SETBP1 | c.2558T>C (p.Leu853Pro) c.2636T>C (p.Leu879Pro) c.2081T>C (p.Leu694Pro) | |
18 | g.44951898T>G | CA402321703 | SETBP1 | c.2558T>G (p.Leu853Arg) c.2636T>G (p.Leu879Arg) c.2081T>G (p.Leu694Arg) | |
18 | g.44951899G>A | CA503982073 | SETBP1 | c.2559G>A (p.Leu853=) c.2637G>A (p.Leu879=) c.2082G>A (p.Leu694=) | |
18 | g.44951899G>C | CA503982074 | SETBP1 | c.2559G>C (p.Leu853=) c.2637G>C (p.Leu879=) c.2082G>C (p.Leu694=) | |
18 | g.44951899G>T | CA503982075 | SETBP1 | c.2559G>T (p.Leu853=) c.2637G>T (p.Leu879=) c.2082G>T (p.Leu694=) | |
18 | g.44951900T>A | CA402321704 | SETBP1 | c.2560T>A (p.Ser854Thr) c.2638T>A (p.Ser880Thr) c.2083T>A (p.Ser695Thr) | |
18 | g.44951900T>C | CA402321705 | SETBP1 | c.2560T>C (p.Ser854Pro) c.2638T>C (p.Ser880Pro) c.2083T>C (p.Ser695Pro) | |
18 | g.44951900T>G | CA402321706 | SETBP1 | c.2560T>G (p.Ser854Ala) c.2638T>G (p.Ser880Ala) c.2083T>G (p.Ser695Ala) | |
18 | g.44951901C>A | CA402321707 | SETBP1 | c.2561C>A (p.Ser854Tyr) c.2639C>A (p.Ser880Tyr) c.2084C>A (p.Ser695Tyr) | ClinVar dbSNP |
18 | g.44951901C= | CA2300140768 | SETBP1 | c.2561C= (p.Ser854=) c.2639C= (p.Ser880=) c.2084C= (p.Ser695=) | |
18 | g.44951901C>G | CA402321708 | SETBP1 | c.2561C>G (p.Ser854Cys) c.2639C>G (p.Ser880Cys) c.2084C>G (p.Ser695Cys) | |
18 | g.44951901C>T | CA402321709 | SETBP1 | c.2561C>T (p.Ser854Phe) c.2639C>T (p.Ser880Phe) c.2084C>T (p.Ser695Phe) | ClinVar dbSNP |
18 | g.44951902C>A | CA503982079 | SETBP1 | c.2562C>A (p.Ser854=) c.2640C>A (p.Ser880=) c.2085C>A (p.Ser695=) | |
18 | g.44951902C= | CA2300140769 | SETBP1 | c.2562C= (p.Ser854=) c.2640C= (p.Ser880=) c.2085C= (p.Ser695=) | |
18 | g.44951902C>G | CA299698576 | SETBP1 | c.2562C>G (p.Ser854=) c.2640C>G (p.Ser880=) c.2085C>G (p.Ser695=) | dbSNP gnomAD v2 gnomAD v4 |
18 | g.44951902C>T | CA503982080 | SETBP1 | c.2562C>T (p.Ser854=) c.2640C>T (p.Ser880=) c.2085C>T (p.Ser695=) | gnomAD v4 |
18 | g.44951903C>A | CA402321712 | SETBP1 | c.2563C>A (p.Pro855Thr) c.2641C>A (p.Pro881Thr) c.2086C>A (p.Pro696Thr) | ClinVar dbSNP |
18 | g.44951903C>G | CA402321711 | SETBP1 | c.2563C>G (p.Pro855Ala) c.2641C>G (p.Pro881Ala) c.2086C>G (p.Pro696Ala) | dbSNP |
18 | g.44951903C>T | CA402321710 | SETBP1 | c.2563C>T (p.Pro855Ser) c.2641C>T (p.Pro881Ser) c.2086C>T (p.Pro696Ser) | |
18 | g.44951904C>A | CA402321713 | SETBP1 | c.2564C>A (p.Pro855His) c.2642C>A (p.Pro881His) c.2087C>A (p.Pro696His) | ClinVar dbSNP |
18 | g.44951904C>G | CA402321714 | SETBP1 | c.2564C>G (p.Pro855Arg) c.2642C>G (p.Pro881Arg) c.2087C>G (p.Pro696Arg) | |
18 | g.44951904C>T | CA402321715 | SETBP1 | c.2564C>T (p.Pro855Leu) c.2642C>T (p.Pro881Leu) c.2087C>T (p.Pro696Leu) | ClinVar |
18 | g.44951905T>A | CA503982084 | SETBP1 | c.2565T>A (p.Pro855=) c.2643T>A (p.Pro881=) c.2088T>A (p.Pro696=) | gnomAD v4 |
18 | g.44951905T>C | CA503982085 | SETBP1 | c.2565T>C (p.Pro855=) c.2643T>C (p.Pro881=) c.2088T>C (p.Pro696=) | gnomAD v4 |
18 | g.44951905T>G | CA503982086 | SETBP1 | c.2565T>G (p.Pro855=) c.2643T>G (p.Pro881=) c.2088T>G (p.Pro696=) | |
18 | g.44951906G>A | CA402321716 | SETBP1 | c.2566G>A (p.Val856Met) c.2644G>A (p.Val882Met) c.2089G>A (p.Val697Met) | COSMIC |
18 | g.44951906G>C | CA402321717 | SETBP1 | c.2566G>C (p.Val856Leu) c.2644G>C (p.Val882Leu) c.2089G>C (p.Val697Leu) | |
18 | g.44951906G= | CA2300140770 | SETBP1 | c.2566G= (p.Val856=) c.2644G= (p.Val882=) c.2089G= (p.Val697=) | |
18 | g.44951906G>T | CA8945761 | SETBP1 | c.2566G>T (p.Val856Leu) c.2644G>T (p.Val882Leu) c.2089G>T (p.Val697Leu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
18 | g.44951907T>A | CA402321718 | SETBP1 | c.2567T>A (p.Val856Glu) c.2645T>A (p.Val882Glu) c.2090T>A (p.Val697Glu) | |
18 | g.44951907T>C | CA402321719 | SETBP1 | c.2567T>C (p.Val856Ala) c.2645T>C (p.Val882Ala) c.2090T>C (p.Val697Ala) | |
18 | g.44951907T>G | CA402321720 | SETBP1 | c.2567T>G (p.Val856Gly) c.2645T>G (p.Val882Gly) c.2090T>G (p.Val697Gly) | |
18 | g.44951908G>A | CA503982089 | SETBP1 | c.2568G>A (p.Val856=) c.2646G>A (p.Val882=) c.2091G>A (p.Val697=) | |
18 | g.44951908G>C | CA503982088 | SETBP1 | c.2568G>C (p.Val856=) c.2646G>C (p.Val882=) c.2091G>C (p.Val697=) | |
18 | g.44951908G>T | CA503982087 | SETBP1 | c.2568G>T (p.Val856=) c.2646G>T (p.Val882=) c.2091G>T (p.Val697=) | |
18 | g.44951909A>C | CA402321721 | SETBP1 | c.2569A>C (p.Ser857Arg) c.2647A>C (p.Ser883Arg) c.2092A>C (p.Ser698Arg) | |
18 | g.44951909A>G | CA402321722 | SETBP1 | c.2569A>G (p.Ser857Gly) c.2647A>G (p.Ser883Gly) c.2092A>G (p.Ser698Gly) | |
18 | g.44951909A>T | CA402321723 | SETBP1 | c.2569A>T (p.Ser857Cys) c.2647A>T (p.Ser883Cys) c.2092A>T (p.Ser698Cys) | |
18 | g.44951910G>A | CA402321726 | SETBP1 | c.2570G>A (p.Ser857Asn) c.2648G>A (p.Ser883Asn) c.2093G>A (p.Ser698Asn) | ClinVar dbSNP |
18 | g.44951910G>C | CA402321725 | SETBP1 | c.2570G>C (p.Ser857Thr) c.2648G>C (p.Ser883Thr) c.2093G>C (p.Ser698Thr) | |
18 | g.44951910G>T | CA402321724 | SETBP1 | c.2570G>T (p.Ser857Ile) c.2648G>T (p.Ser883Ile) c.2093G>T (p.Ser698Ile) | |
18 | g.44951911C>A | CA402321727 | SETBP1 | c.2571C>A (p.Ser857Arg) c.2649C>A (p.Ser883Arg) c.2094C>A (p.Ser698Arg) | |
18 | g.44951911C= | CA2300140771 | SETBP1 | c.2571C= (p.Ser857=) c.2649C= (p.Ser883=) c.2094C= (p.Ser698=) | |
18 | g.44951911C>G | CA402321728 | SETBP1 | c.2571C>G (p.Ser857Arg) c.2649C>G (p.Ser883Arg) c.2094C>G (p.Ser698Arg) | |
18 | g.44951911C>T | CA8945762 | SETBP1 | c.2571C>T (p.Ser857=) c.2649C>T (p.Ser883=) c.2094C>T (p.Ser698=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951912G>A | CA402321729 | SETBP1 | c.2572G>A (p.Glu858Lys) c.2650G>A (p.Glu884Lys) c.2095G>A (p.Glu699Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.44951912G>C | CA402321730 | SETBP1 | c.2572G>C (p.Glu858Gln) c.2650G>C (p.Glu884Gln) c.2095G>C (p.Glu699Gln) | |
18 | g.44951912G= | CA2300140772 | SETBP1 | c.2572G= (p.Glu858=) c.2650G= (p.Glu884=) c.2095G= (p.Glu699=) | |
18 | g.44951912G>T | CA402321731 | SETBP1 | c.2572G>T (p.Glu858Ter) c.2650G>T (p.Glu884Ter) c.2095G>T (p.Glu699Ter) | |
18 | g.44951913A>C | CA402321734 | SETBP1 | c.2573A>C (p.Glu858Ala) c.2651A>C (p.Glu884Ala) c.2096A>C (p.Glu699Ala) | |
18 | g.44951913A>G | CA402321732 | SETBP1 | c.2573A>G (p.Glu858Gly) c.2651A>G (p.Glu884Gly) c.2096A>G (p.Glu699Gly) | |
18 | g.44951913A>T | CA402321733 | SETBP1 | c.2573A>T (p.Glu858Val) c.2651A>T (p.Glu884Val) c.2096A>T (p.Glu699Val) | |
18 | g.44951914G>A | CA503982096 | SETBP1 | c.2574G>A (p.Glu858=) c.2652G>A (p.Glu884=) c.2097G>A (p.Glu699=) | |
18 | g.44951914G>C | CA402321735 | SETBP1 | c.2574G>C (p.Glu858Asp) c.2652G>C (p.Glu884Asp) c.2097G>C (p.Glu699Asp) | |
18 | g.44951914G>T | CA402321736 | SETBP1 | c.2574G>T (p.Glu858Asp) c.2652G>T (p.Glu884Asp) c.2097G>T (p.Glu699Asp) | gnomAD v4 |
18 | g.44951915T>A | CA402321737 | SETBP1 | c.2575T>A (p.Ser859Thr) c.2653T>A (p.Ser885Thr) c.2098T>A (p.Ser700Thr) | |
18 | g.44951915T>C | CA402321738 | SETBP1 | c.2575T>C (p.Ser859Pro) c.2653T>C (p.Ser885Pro) c.2098T>C (p.Ser700Pro) | |
18 | g.44951915T>G | CA402321739 | SETBP1 | c.2575T>G (p.Ser859Ala) c.2653T>G (p.Ser885Ala) c.2098T>G (p.Ser700Ala) | |
18 | g.44951916C>A | CA402321740 | SETBP1 | c.2576C>A (p.Ser859Tyr) c.2654C>A (p.Ser885Tyr) c.2099C>A (p.Ser700Tyr) | |
18 | g.44951916C>G | CA402321742 | SETBP1 | c.2576C>G (p.Ser859Cys) c.2654C>G (p.Ser885Cys) c.2099C>G (p.Ser700Cys) | |
18 | g.44951916C>T | CA402321741 | SETBP1 | c.2576C>T (p.Ser859Phe) c.2654C>T (p.Ser885Phe) c.2099C>T (p.Ser700Phe) | |
18 | g.44951917C>A | CA503982100 | SETBP1 | c.2577C>A (p.Ser859=) c.2655C>A (p.Ser885=) c.2100C>A (p.Ser700=) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44951917C= | CA2300140773 | SETBP1 | c.2577C= (p.Ser859=) c.2655C= (p.Ser885=) c.2100C= (p.Ser700=) | |
18 | g.44951917C>G | CA503982101 | SETBP1 | c.2577C>G (p.Ser859=) c.2655C>G (p.Ser885=) c.2100C>G (p.Ser700=) | |
18 | g.44951917C>T | CA503982102 | SETBP1 | c.2577C>T (p.Ser859=) c.2655C>T (p.Ser885=) c.2100C>T (p.Ser700=) | |
18 | g.44951918C>A | CA402321743 | SETBP1 | c.2578C>A (p.His860Asn) c.2656C>A (p.His886Asn) c.2101C>A (p.His701Asn) | |
18 | g.44951918C= | CA2300140774 | SETBP1 | c.2578C= (p.His860=) c.2656C= (p.His886=) c.2101C= (p.His701=) | |
18 | g.44951918C>G | CA402321744 | SETBP1 | c.2578C>G (p.His860Asp) c.2656C>G (p.His886Asp) c.2101C>G (p.His701Asp) | |
18 | g.44951918C>T | CA402321745 | SETBP1 | c.2578C>T (p.His860Tyr) c.2656C>T (p.His886Tyr) c.2101C>T (p.His701Tyr) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.44951919A>C | CA402321746 | SETBP1 | c.2579A>C (p.His860Pro) c.2657A>C (p.His886Pro) c.2102A>C (p.His701Pro) | |
18 | g.44951919A>G | CA402321747 | SETBP1 | c.2579A>G (p.His860Arg) c.2657A>G (p.His886Arg) c.2102A>G (p.His701Arg) | |
18 | g.44951919A>T | CA402321748 | SETBP1 | c.2579A>T (p.His860Leu) c.2657A>T (p.His886Leu) c.2102A>T (p.His701Leu) | |
18 | g.44951920C>A | CA402321749 | SETBP1 | c.2580C>A (p.His860Gln) c.2658C>A (p.His886Gln) c.2103C>A (p.His701Gln) | |
18 | g.44951920C>G | CA402321750 | SETBP1 | c.2580C>G (p.His860Gln) c.2658C>G (p.His886Gln) c.2103C>G (p.His701Gln) | |
18 | g.44951920C>T | CA503982107 | SETBP1 | c.2580C>T (p.His860=) c.2658C>T (p.His886=) c.2103C>T (p.His701=) | |
18 | g.44951921A>C | CA402321751 | SETBP1 | c.2581A>C (p.Ser861Arg) c.2659A>C (p.Ser887Arg) c.2104A>C (p.Ser702Arg) | |
18 | g.44951921A>G | CA402321752 | SETBP1 | c.2581A>G (p.Ser861Gly) c.2659A>G (p.Ser887Gly) c.2104A>G (p.Ser702Gly) | |
18 | g.44951921A>T | CA402321753 | SETBP1 | c.2581A>T (p.Ser861Cys) c.2659A>T (p.Ser887Cys) c.2104A>T (p.Ser702Cys) | |
18 | g.44951922G>A | CA402321755 | SETBP1 | c.2582G>A (p.Ser861Asn) c.2660G>A (p.Ser887Asn) c.2105G>A (p.Ser702Asn) | |
18 | g.44951922G>C | CA402321756 | SETBP1 | c.2582G>C (p.Ser861Thr) c.2660G>C (p.Ser887Thr) c.2105G>C (p.Ser702Thr) | |
18 | g.44951922G>T | CA402321754 | SETBP1 | c.2582G>T (p.Ser861Ile) c.2660G>T (p.Ser887Ile) c.2105G>T (p.Ser702Ile) | |
18 | g.44951923T>A | CA402321757 | SETBP1 | c.2583T>A (p.Ser861Arg) c.2661T>A (p.Ser887Arg) c.2106T>A (p.Ser702Arg) | |
18 | g.44951923T>C | CA503982109 | SETBP1 | c.2583T>C (p.Ser861=) c.2661T>C (p.Ser887=) c.2106T>C (p.Ser702=) | ClinVar dbSNP |
18 | g.44951923T>G | CA402321758 | SETBP1 | c.2583T>G (p.Ser861Arg) c.2661T>G (p.Ser887Arg) c.2106T>G (p.Ser702Arg) | |
18 | g.44951923T= | CA2300140775 | SETBP1 | c.2583T= (p.Ser861=) c.2661T= (p.Ser887=) c.2106T= (p.Ser702=) | |
18 | g.44951924G>A | CA402321759 | SETBP1 | c.2584G>A (p.Glu862Lys) c.2662G>A (p.Glu888Lys) c.2107G>A (p.Glu703Lys) | |
18 | g.44951924G>C | CA402321761 | SETBP1 | c.2584G>C (p.Glu862Gln) c.2662G>C (p.Glu888Gln) c.2107G>C (p.Glu703Gln) | |
18 | g.44951924G>T | CA402321760 | SETBP1 | c.2584G>T (p.Glu862Ter) c.2662G>T (p.Glu888Ter) c.2107G>T (p.Glu703Ter) | |
18 | g.44951925A>C | CA402321762 | SETBP1 | c.2585A>C (p.Glu862Ala) c.2663A>C (p.Glu888Ala) c.2108A>C (p.Glu703Ala) | COSMIC |
18 | g.44951925A>G | CA402321763 | SETBP1 | c.2585A>G (p.Glu862Gly) c.2663A>G (p.Glu888Gly) c.2108A>G (p.Glu703Gly) | |
18 | g.44951925A>T | CA402321764 | SETBP1 | c.2585A>T (p.Glu862Val) c.2663A>T (p.Glu888Val) c.2108A>T (p.Glu703Val) | |
18 | g.44951926G>A | CA8945763 | SETBP1 | c.2586G>A (p.Glu862=) c.2664G>A (p.Glu888=) c.2109G>A (p.Glu703=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951926G>C | CA402321765 | SETBP1 | c.2586G>C (p.Glu862Asp) c.2664G>C (p.Glu888Asp) c.2109G>C (p.Glu703Asp) | |
18 | g.44951926G= | CA2300140776 | SETBP1 | c.2586G= (p.Glu862=) c.2664G= (p.Glu888=) c.2109G= (p.Glu703=) | |
18 | g.44951926G>T | CA402321766 | SETBP1 | c.2586G>T (p.Glu862Asp) c.2664G>T (p.Glu888Asp) c.2109G>T (p.Glu703Asp) | |
18 | g.44951927G>A | CA402321767 | SETBP1 | c.2587G>A (p.Glu863Lys) c.2665G>A (p.Glu889Lys) c.2110G>A (p.Glu704Lys) | COSMIC |
18 | g.44951927G>C | CA402321768 | SETBP1 | c.2587G>C (p.Glu863Gln) c.2665G>C (p.Glu889Gln) c.2110G>C (p.Glu704Gln) | |
18 | g.44951927G>T | CA402321769 | SETBP1 | c.2587G>T (p.Glu863Ter) c.2665G>T (p.Glu889Ter) c.2110G>T (p.Glu704Ter) | |
18 | g.44951928A>C | CA402321770 | SETBP1 | c.2588A>C (p.Glu863Ala) c.2666A>C (p.Glu889Ala) c.2111A>C (p.Glu704Ala) | |
18 | g.44951928A>G | CA402321771 | SETBP1 | c.2588A>G (p.Glu863Gly) c.2666A>G (p.Glu889Gly) c.2111A>G (p.Glu704Gly) | |
18 | g.44951928A>T | CA402321772 | SETBP1 | c.2588A>T (p.Glu863Val) c.2666A>T (p.Glu889Val) c.2111A>T (p.Glu704Val) | |
18 | g.44951929G>A | CA503982113 | SETBP1 | c.2589G>A (p.Glu863=) c.2667G>A (p.Glu889=) c.2112G>A (p.Glu704=) | |
18 | g.44951929G>C | CA402321774 | SETBP1 | c.2589G>C (p.Glu863Asp) c.2667G>C (p.Glu889Asp) c.2112G>C (p.Glu704Asp) | |
18 | g.44951929G>T | CA402321773 | SETBP1 | c.2589G>T (p.Glu863Asp) c.2667G>T (p.Glu889Asp) c.2112G>T (p.Glu704Asp) | |
18 | g.44951930A>C | CA402321775 | SETBP1 | c.2590A>C (p.Thr864Pro) c.2668A>C (p.Thr890Pro) c.2113A>C (p.Thr705Pro) | |
18 | g.44951930A>G | CA402321776 | SETBP1 | c.2590A>G (p.Thr864Ala) c.2668A>G (p.Thr890Ala) c.2113A>G (p.Thr705Ala) | |
18 | g.44951930A>T | CA402321777 | SETBP1 | c.2590A>T (p.Thr864Ser) c.2668A>T (p.Thr890Ser) c.2113A>T (p.Thr705Ser) | |
18 | g.44951931C>A | CA402321778 | SETBP1 | c.2591C>A (p.Thr864Lys) c.2669C>A (p.Thr890Lys) c.2114C>A (p.Thr705Lys) | |
18 | g.44951931C= | CA2300140777 | SETBP1 | c.2591C= (p.Thr864=) c.2669C= (p.Thr890=) c.2114C= (p.Thr705=) | |
18 | g.44951931C>G | CA402321779 | SETBP1 | c.2591C>G (p.Thr864Arg) c.2669C>G (p.Thr890Arg) c.2114C>G (p.Thr705Arg) | |
18 | g.44951931C>T | CA402321780 | SETBP1 | c.2591C>T (p.Thr864Met) c.2669C>T (p.Thr890Met) c.2114C>T (p.Thr705Met) | ClinVar dbSNP gnomAD v4 COSMIC |
18 | g.44951932G>A | CA8945764 | SETBP1 | c.2592G>A (p.Thr864=) c.2670G>A (p.Thr890=) c.2115G>A (p.Thr705=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.44951932G>C | CA503982117 | SETBP1 | c.2592G>C (p.Thr864=) c.2670G>C (p.Thr890=) c.2115G>C (p.Thr705=) | gnomAD v4 |
18 | g.44951932G= | CA2300140778 | SETBP1 | c.2592G= (p.Thr864=) c.2670G= (p.Thr890=) c.2115G= (p.Thr705=) | |
18 | g.44951932G>T | CA503982118 | SETBP1 | c.2592G>T (p.Thr864=) c.2670G>T (p.Thr890=) c.2115G>T (p.Thr705=) | |
18 | g.44951933A>C | CA402321781 | SETBP1 | c.2593A>C (p.Ile865Leu) c.2671A>C (p.Ile891Leu) c.2116A>C (p.Ile706Leu) | |
18 | g.44951933A>G | CA402321783 | SETBP1 | c.2593A>G (p.Ile865Val) c.2671A>G (p.Ile891Val) c.2116A>G (p.Ile706Val) | |
18 | g.44951933A>T | CA402321782 | SETBP1 | c.2593A>T (p.Ile865Phe) c.2671A>T (p.Ile891Phe) c.2116A>T (p.Ile706Phe) | |
18 | g.44951934T>A | CA402321784 | SETBP1 | c.2594T>A (p.Ile865Asn) c.2672T>A (p.Ile891Asn) c.2117T>A (p.Ile706Asn) | gnomAD v4 COSMIC |
18 | g.44951934T>C | CA402321785 | SETBP1 | c.2594T>C (p.Ile865Thr) c.2672T>C (p.Ile891Thr) c.2117T>C (p.Ile706Thr) | |
18 | g.44951934T>G | CA402321786 | SETBP1 | c.2594T>G (p.Ile865Ser) c.2672T>G (p.Ile891Ser) c.2117T>G (p.Ile706Ser) | |
18 | g.44951935C>A | CA503982119 | SETBP1 | c.2595C>A (p.Ile865=) c.2673C>A (p.Ile891=) c.2118C>A (p.Ile706=) | ClinVar dbSNP |
18 | g.44951935C= | CA2300140779 | SETBP1 | c.2595C= (p.Ile865=) c.2673C= (p.Ile891=) c.2118C= (p.Ile706=) | |
18 | g.44951935C>G | CA402321787 | SETBP1 | c.2595C>G (p.Ile865Met) c.2673C>G (p.Ile891Met) c.2118C>G (p.Ile706Met) | |
18 | g.44951935C>T | CA503982120 | SETBP1 | c.2595C>T (p.Ile865=) c.2673C>T (p.Ile891=) c.2118C>T (p.Ile706=) | |
18 | g.44951936C>A | CA402321790 | SETBP1 | c.2596C>A (p.Pro866Thr) c.2674C>A (p.Pro892Thr) c.2119C>A (p.Pro707Thr) | |
18 | g.44951936C>G | CA402321788 | SETBP1 | c.2596C>G (p.Pro866Ala) c.2674C>G (p.Pro892Ala) c.2119C>G (p.Pro707Ala) | |
18 | g.44951936C>T | CA402321789 | SETBP1 | c.2596C>T (p.Pro866Ser) c.2674C>T (p.Pro892Ser) c.2119C>T (p.Pro707Ser) | |
18 | g.44951937C>A | CA402321791 | SETBP1 | c.2597C>A (p.Pro866His) c.2675C>A (p.Pro892His) c.2120C>A (p.Pro707His) | |
18 | g.44951937C>G | CA402321792 | SETBP1 | c.2597C>G (p.Pro866Arg) c.2675C>G (p.Pro892Arg) c.2120C>G (p.Pro707Arg) | |
18 | g.44951937C>T | CA402321793 | SETBP1 | c.2597C>T (p.Pro866Leu) c.2675C>T (p.Pro892Leu) c.2120C>T (p.Pro707Leu) | |
18 | g.44951938C>A | CA503982125 | SETBP1 | c.2598C>A (p.Pro866=) c.2676C>A (p.Pro892=) c.2121C>A (p.Pro707=) | |
18 | g.44951938C>G | CA503982127 | SETBP1 | c.2598C>G (p.Pro866=) c.2676C>G (p.Pro892=) c.2121C>G (p.Pro707=) | gnomAD v4 |
18 | g.44951938C>T | CA503982129 | SETBP1 | c.2598C>T (p.Pro866=) c.2676C>T (p.Pro892=) c.2121C>T (p.Pro707=) | |
18 | g.44951939A>C | CA402321794 | SETBP1 | c.2599A>C (p.Ser867Arg) c.2677A>C (p.Ser893Arg) c.2122A>C (p.Ser708Arg) | |
18 | g.44951939A>G | CA402321795 | SETBP1 | c.2599A>G (p.Ser867Gly) c.2677A>G (p.Ser893Gly) c.2122A>G (p.Ser708Gly) | |
18 | g.44951939A>T | CA402321796 | SETBP1 | c.2599A>T (p.Ser867Cys) c.2677A>T (p.Ser893Cys) c.2122A>T (p.Ser708Cys) | |
18 | g.44951940G>A | CA402321799 | SETBP1 | c.2600G>A (p.Ser867Asn) c.2678G>A (p.Ser893Asn) c.2123G>A (p.Ser708Asn) | |
18 | g.44951940G>C | CA402321798 | SETBP1 | c.2600G>C (p.Ser867Thr) c.2678G>C (p.Ser893Thr) c.2123G>C (p.Ser708Thr) | |
18 | g.44951940G>T | CA402321797 | SETBP1 | c.2600G>T (p.Ser867Ile) c.2678G>T (p.Ser893Ile) c.2123G>T (p.Ser708Ile) | |
18 | g.44951941C>A | CA402321800 | SETBP1 | c.2601C>A (p.Ser867Arg) c.2679C>A (p.Ser893Arg) c.2124C>A (p.Ser708Arg) | ClinVar COSMIC |
18 | g.44951941C= | CA2300140780 | SETBP1 | c.2601C= (p.Ser867=) c.2679C= (p.Ser893=) c.2124C= (p.Ser708=) | |
18 | g.44951941C>G | CA402321801 | SETBP1 | c.2601C>G (p.Ser867Arg) c.2679C>G (p.Ser893Arg) c.2124C>G (p.Ser708Arg) | |
18 | g.44951941C>T | CA8945765 | SETBP1 | c.2601C>T (p.Ser867=) c.2679C>T (p.Ser893=) c.2124C>T (p.Ser708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
18 | g.44951942G>A | CA114716 | SETBP1 | c.2602G>A (p.Asp868Asn) c.2680G>A (p.Asp894Asn) c.2125G>A (p.Asp709Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
18 | g.44951942G>C | CA173390 | SETBP1 | c.2602G>C (p.Asp868His) c.2680G>C (p.Asp894His) c.2125G>C (p.Asp709His) | ClinVar dbSNP |
18 | g.44951942G= | CA2300140781 | SETBP1 | c.2602G= (p.Asp868=) c.2680G= (p.Asp894=) c.2125G= (p.Asp709=) | |
18 | g.44951942G>T | CA402321802 | SETBP1 | c.2602G>T (p.Asp868Tyr) c.2680G>T (p.Asp894Tyr) c.2125G>T (p.Asp709Tyr) | dbSNP COSMIC |
18 | g.44951943A= | CA2300140782 | SETBP1 | c.2603A= (p.Asp868=) c.2681A= (p.Asp894=) c.2126A= (p.Asp709=) | |
18 | g.44951943A>C | CA114717 | SETBP1 | c.2603A>C (p.Asp868Ala) c.2681A>C (p.Asp894Ala) c.2126A>C (p.Asp709Ala) | ClinVar dbSNP |
18 | g.44951943A>G | CA402321804 | SETBP1 | c.2603A>G (p.Asp868Gly) c.2681A>G (p.Asp894Gly) c.2126A>G (p.Asp709Gly) | |
18 | g.44951943A>T | CA402321803 | SETBP1 | c.2603A>T (p.Asp868Val) c.2681A>T (p.Asp894Val) c.2126A>T (p.Asp709Val) | |
18 | g.44951944C>A | CA402321805 | SETBP1 | c.2604C>A (p.Asp868Glu) c.2682C>A (p.Asp894Glu) c.2127C>A (p.Asp709Glu) | |
18 | g.44951944C= | CA2300140783 | SETBP1 | c.2604C= (p.Asp868=) c.2682C= (p.Asp894=) c.2127C= (p.Asp709=) | |
18 | g.44951944C>G | CA402321806 | SETBP1 | c.2604C>G (p.Asp868Glu) c.2682C>G (p.Asp894Glu) c.2127C>G (p.Asp709Glu) | |
18 | g.44951944C>T | CA503982133 | SETBP1 | c.2604C>T (p.Asp868=) c.2682C>T (p.Asp894=) c.2127C>T (p.Asp709=) | dbSNP |
18 | g.44951945A>C | CA402321807 | SETBP1 | c.2605A>C (p.Ser869Arg) c.2683A>C (p.Ser895Arg) c.2128A>C (p.Ser710Arg) | COSMIC |
18 | g.44951945A>G | CA402321808 | SETBP1 | c.2605A>G (p.Ser869Gly) c.2683A>G (p.Ser895Gly) c.2128A>G (p.Ser710Gly) | |
18 | g.44951945A>T | CA402321809 | SETBP1 | c.2605A>T (p.Ser869Cys) c.2683A>T (p.Ser895Cys) c.2128A>T (p.Ser710Cys) | |
18 | g.44951946G>A | CA402321810 | SETBP1 | c.2606G>A (p.Ser869Asn) c.2684G>A (p.Ser895Asn) c.2129G>A (p.Ser710Asn) | ClinVar gnomAD v4 COSMIC |
18 | g.44951946G>C | CA402321811 | SETBP1 | c.2606G>C (p.Ser869Thr) c.2684G>C (p.Ser895Thr) c.2129G>C (p.Ser710Thr) | |
18 | g.44951946G>T | CA402321812 | SETBP1 | c.2606G>T (p.Ser869Ile) c.2684G>T (p.Ser895Ile) c.2129G>T (p.Ser710Ile) | |
18 | g.44951947C>A | CA402321813 | SETBP1 | c.2607C>A (p.Ser869Arg) c.2685C>A (p.Ser895Arg) c.2130C>A (p.Ser710Arg) | COSMIC |
18 | g.44951947C= | CA2300140784 | SETBP1 | c.2607C= (p.Ser869=) c.2685C= (p.Ser895=) c.2130C= (p.Ser710=) | |
18 | g.44951947C>G | CA402321814 | SETBP1 | c.2607C>G (p.Ser869Arg) c.2685C>G (p.Ser895Arg) c.2130C>G (p.Ser710Arg) | ClinVar |
18 | g.44951947C>T | CA8945766 | SETBP1 | c.2607C>T (p.Ser869=) c.2685C>T (p.Ser895=) c.2130C>T (p.Ser710=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951948G>A | CA114719 | SETBP1 | c.2608G>A (p.Gly870Ser) c.2686G>A (p.Gly896Ser) c.2131G>A (p.Gly711Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
18 | g.44951948G>C | CA402321816 | SETBP1 | c.2608G>C (p.Gly870Arg) c.2686G>C (p.Gly896Arg) c.2131G>C (p.Gly711Arg) | COSMIC |
18 | g.44951948G= | CA2300140785 | SETBP1 | c.2608G= (p.Gly870=) c.2686G= (p.Gly896=) c.2131G= (p.Gly711=) | |
18 | g.44951948G>T | CA402321815 | SETBP1 | c.2608G>T (p.Gly870Cys) c.2686G>T (p.Gly896Cys) c.2131G>T (p.Gly711Cys) | |
18 | g.44951949G>A | CA114718 | SETBP1 | c.2609G>A (p.Gly870Asp) c.2687G>A (p.Gly896Asp) c.2132G>A (p.Gly711Asp) | ClinVar dbSNP |
18 | g.44951949G>C | CA402321818 | SETBP1 | c.2609G>C (p.Gly870Ala) c.2687G>C (p.Gly896Ala) c.2132G>C (p.Gly711Ala) | |
18 | g.44951949G= | CA2300140786 | SETBP1 | c.2609G= (p.Gly870=) c.2687G= (p.Gly896=) c.2132G= (p.Gly711=) | |
18 | g.44951949G>T | CA402321817 | SETBP1 | c.2609G>T (p.Gly870Val) c.2687G>T (p.Gly896Val) c.2132G>T (p.Gly711Val) | dbSNP |
18 | g.44951950C>A | CA503982138 | SETBP1 | c.2610C>A (p.Gly870=) c.2688C>A (p.Gly896=) c.2133C>A (p.Gly711=) | |
18 | g.44951950C>G | CA503982139 | SETBP1 | c.2610C>G (p.Gly870=) c.2688C>G (p.Gly896=) c.2133C>G (p.Gly711=) | |
18 | g.44951950C>T | CA503982140 | SETBP1 | c.2610C>T (p.Gly870=) c.2688C>T (p.Gly896=) c.2133C>T (p.Gly711=) | |
18 | g.44951951A>C | CA402321819 | SETBP1 | c.2611A>C (p.Ile871Leu) c.2689A>C (p.Ile897Leu) c.2134A>C (p.Ile712Leu) | |
18 | g.44951951A>G | CA402321820 | SETBP1 | c.2611A>G (p.Ile871Val) c.2689A>G (p.Ile897Val) c.2134A>G (p.Ile712Val) | |
18 | g.44951951A>T | CA402321821 | SETBP1 | c.2611A>T (p.Ile871Phe) c.2689A>T (p.Ile897Phe) c.2134A>T (p.Ile712Phe) | |
18 | g.44951952T>A | CA402321822 | SETBP1 | c.2612T>A (p.Ile871Asn) c.2690T>A (p.Ile897Asn) c.2135T>A (p.Ile712Asn) | |
18 | g.44951952T>C | CA114715 | SETBP1 | c.2612T>C (p.Ile871Thr) c.2690T>C (p.Ile897Thr) c.2135T>C (p.Ile712Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
18 | g.44951952T>G | CA402321823 | SETBP1 | c.2612T>G (p.Ile871Ser) c.2690T>G (p.Ile897Ser) c.2135T>G (p.Ile712Ser) | ClinVar dbSNP |
18 | g.44951952T= | CA2300140787 | SETBP1 | c.2612T= (p.Ile871=) c.2690T= (p.Ile897=) c.2135T= (p.Ile712=) | |
18 | g.44951953T>A | CA503982142 | SETBP1 | c.2613T>A (p.Ile871=) c.2691T>A (p.Ile897=) c.2136T>A (p.Ile712=) | |
18 | g.44951953T>C | CA503982143 | SETBP1 | c.2613T>C (p.Ile871=) c.2691T>C (p.Ile897=) c.2136T>C (p.Ile712=) | COSMIC |
18 | g.44951953T>G | CA402321824 | SETBP1 | c.2613T>G (p.Ile871Met) c.2691T>G (p.Ile897Met) c.2136T>G (p.Ile712Met) | |
18 | g.44951953T= | CA2300140788 | SETBP1 | c.2613T= (p.Ile871=) c.2691T= (p.Ile897=) c.2136T= (p.Ile712=) | |
18 | g.44951954G>A | CA402321825 | SETBP1 | c.2614G>A (p.Gly872Arg) c.2692G>A (p.Gly898Arg) c.2137G>A (p.Gly713Arg) | ClinVar dbSNP |
18 | g.44951954G>C | CA402321826 | SETBP1 | c.2614G>C (p.Gly872Arg) c.2692G>C (p.Gly898Arg) c.2137G>C (p.Gly713Arg) | |
18 | g.44951954G= | CA2300140789 | SETBP1 | c.2614G= (p.Gly872=) c.2692G= (p.Gly898=) c.2137G= (p.Gly713=) | |
18 | g.44951954G>T | CA402321827 | SETBP1 | c.2614G>T (p.Gly872Trp) c.2692G>T (p.Gly898Trp) c.2137G>T (p.Gly713Trp) | |
18 | g.44951956dup | CA299698615 | SETBP1 | c.2616dup (p.Thr873AspfsTer8) c.2694dup (p.Thr899AspfsTer8) c.2139dup (p.Thr714AspfsTer8) | dbSNP |
18 | g.44951955G>A | CA402321830 | SETBP1 | c.2615G>A (p.Gly872Glu) c.2693G>A (p.Gly898Glu) c.2138G>A (p.Gly713Glu) | |
18 | g.44951955G>C | CA402321829 | SETBP1 | c.2615G>C (p.Gly872Ala) c.2693G>C (p.Gly898Ala) c.2138G>C (p.Gly713Ala) | |
18 | g.44951955G>T | CA402321828 | SETBP1 | c.2615G>T (p.Gly872Val) c.2693G>T (p.Gly898Val) c.2138G>T (p.Gly713Val) | |
18 | g.44951956G>A | CA503982146 | SETBP1 | c.2616G>A (p.Gly872=) c.2694G>A (p.Gly898=) c.2139G>A (p.Gly713=) | ClinVar |
18 | g.44951956G>C | CA299698620 | SETBP1 | c.2616G>C (p.Gly872=) c.2694G>C (p.Gly898=) c.2139G>C (p.Gly713=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951956G= | CA2300140790 | SETBP1 | c.2616G= (p.Gly872=) c.2694G= (p.Gly898=) c.2139G= (p.Gly713=) | |
18 | g.44951956G>T | CA503982147 | SETBP1 | c.2616G>T (p.Gly872=) c.2694G>T (p.Gly898=) c.2139G>T (p.Gly713=) | |
18 | g.44951957A>C | CA402321831 | SETBP1 | c.2617A>C (p.Thr873Pro) c.2695A>C (p.Thr899Pro) c.2140A>C (p.Thr714Pro) | |
18 | g.44951957A>G | CA402321832 | SETBP1 | c.2617A>G (p.Thr873Ala) c.2695A>G (p.Thr899Ala) c.2140A>G (p.Thr714Ala) | |
18 | g.44951957A>T | CA402321833 | SETBP1 | c.2617A>T (p.Thr873Ser) c.2695A>T (p.Thr899Ser) c.2140A>T (p.Thr714Ser) | |
18 | g.44951958C>A | CA402321834 | SETBP1 | c.2618C>A (p.Thr873Lys) c.2696C>A (p.Thr899Lys) c.2141C>A (p.Thr714Lys) | |
18 | g.44951958C>G | CA402321835 | SETBP1 | c.2618C>G (p.Thr873Arg) c.2696C>G (p.Thr899Arg) c.2141C>G (p.Thr714Arg) | COSMIC |
18 | g.44951958C>T | CA402321836 | SETBP1 | c.2618C>T (p.Thr873Ile) c.2696C>T (p.Thr899Ile) c.2141C>T (p.Thr714Ile) | |
18 | g.44951959A>C | CA503982150 | SETBP1 | c.2619A>C (p.Thr873=) c.2697A>C (p.Thr899=) c.2142A>C (p.Thr714=) | |
18 | g.44951959A>G | CA503982152 | SETBP1 | c.2619A>G (p.Thr873=) c.2697A>G (p.Thr899=) c.2142A>G (p.Thr714=) | gnomAD v4 |
18 | g.44951959A>T | CA503982154 | SETBP1 | c.2619A>T (p.Thr873=) c.2697A>T (p.Thr899=) c.2142A>T (p.Thr714=) | |
18 | g.44951960G>A | CA402321837 | SETBP1 | c.2620G>A (p.Asp874Asn) c.2698G>A (p.Asp900Asn) c.2143G>A (p.Asp715Asn) | |
18 | g.44951960G>C | CA402321838 | SETBP1 | c.2620G>C (p.Asp874His) c.2698G>C (p.Asp900His) c.2143G>C (p.Asp715His) | |
18 | g.44951960G>T | CA402321839 | SETBP1 | c.2620G>T (p.Asp874Tyr) c.2698G>T (p.Asp900Tyr) c.2143G>T (p.Asp715Tyr) | COSMIC |
18 | g.44951960_44951963delinsGACA | CA2300140791 | SETBP1 | c.2620_2623delinsGACA (p.Asp874=) c.2698_2701delinsGACA (p.Asp900=) c.2143_2146delinsGACA (p.Asp715=) | |
18 | g.44951961A= | CA2300140792 | SETBP1 | c.2621A= (p.Asp874=) c.2699A= (p.Asp900=) c.2144A= (p.Asp715=) | |
18 | g.44951961A>C | CA402321840 | SETBP1 | c.2621A>C (p.Asp874Ala) c.2699A>C (p.Asp900Ala) c.2144A>C (p.Asp715Ala) | |
18 | g.44951961A>G | CA402321841 | SETBP1 | c.2621A>G (p.Asp874Gly) c.2699A>G (p.Asp900Gly) c.2144A>G (p.Asp715Gly) | ClinVar dbSNP |
18 | g.44951961A>T | CA402321842 | SETBP1 | c.2621A>T (p.Asp874Val) c.2699A>T (p.Asp900Val) c.2144A>T (p.Asp715Val) | |
18 | g.44951967_44951969del | CA299698629 | SETBP1 | c.2627_2629del (p.Asn876del) c.2705_2707del (p.Asn902del) c.2150_2152del (p.Asn717del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
18 | g.44951962C>A | CA402321843 | SETBP1 | c.2622C>A (p.Asp874Glu) c.2700C>A (p.Asp900Glu) c.2145C>A (p.Asp715Glu) | |
18 | g.44951962C>G | CA402321844 | SETBP1 | c.2622C>G (p.Asp874Glu) c.2700C>G (p.Asp900Glu) c.2145C>G (p.Asp715Glu) | |
18 | g.44951962C>T | CA503982159 | SETBP1 | c.2622C>T (p.Asp874=) c.2700C>T (p.Asp900=) c.2145C>T (p.Asp715=) | ClinVar dbSNP gnomAD v4 |
18 | g.44951963A>C | CA402321845 | SETBP1 | c.2623A>C (p.Asn875His) c.2701A>C (p.Asn901His) c.2146A>C (p.Asn716His) | |
18 | g.44951963A>G | CA402321846 | SETBP1 | c.2623A>G (p.Asn875Asp) c.2701A>G (p.Asn901Asp) c.2146A>G (p.Asn716Asp) | |
18 | g.44951963A>T | CA402321847 | SETBP1 | c.2623A>T (p.Asn875Tyr) c.2701A>T (p.Asn901Tyr) c.2146A>T (p.Asn716Tyr) | |
18 | g.44951964A= | CA2300140793 | SETBP1 | c.2624A= (p.Asn875=) c.2702A= (p.Asn901=) c.2147A= (p.Asn716=) | |
18 | g.44951964A>C | CA402321848 | SETBP1 | c.2624A>C (p.Asn875Thr) c.2702A>C (p.Asn901Thr) c.2147A>C (p.Asn716Thr) | |
18 | g.44951964A>G | CA402321849 | SETBP1 | c.2624A>G (p.Asn875Ser) c.2702A>G (p.Asn901Ser) c.2147A>G (p.Asn716Ser) | dbSNP |
18 | g.44951964A>T | CA402321850 | SETBP1 | c.2624A>T (p.Asn875Ile) c.2702A>T (p.Asn901Ile) c.2147A>T (p.Asn716Ile) |