Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.44951959A>CCA503982150SETBP1c.2619A>C (p.Thr873=)
c.2697A>C (p.Thr899=)
c.2142A>C (p.Thr714=)
18g.44951959A>GCA503982152SETBP1c.2619A>G (p.Thr873=)
c.2697A>G (p.Thr899=)
c.2142A>G (p.Thr714=)
 gnomAD v4
18g.44951959A>TCA503982154SETBP1c.2619A>T (p.Thr873=)
c.2697A>T (p.Thr899=)
c.2142A>T (p.Thr714=)
18g.44951960G>ACA402321837SETBP1c.2620G>A (p.Asp874Asn)
c.2698G>A (p.Asp900Asn)
c.2143G>A (p.Asp715Asn)
18g.44951960G>CCA402321838SETBP1c.2620G>C (p.Asp874His)
c.2698G>C (p.Asp900His)
c.2143G>C (p.Asp715His)
18g.44951960G>TCA402321839SETBP1c.2620G>T (p.Asp874Tyr)
c.2698G>T (p.Asp900Tyr)
c.2143G>T (p.Asp715Tyr)
 COSMIC
18g.44951960_44951963delinsGACACA2300140791SETBP1c.2620_2623delinsGACA (p.Asp874=)
c.2698_2701delinsGACA (p.Asp900=)
c.2143_2146delinsGACA (p.Asp715=)
18g.44951961A=CA2300140792SETBP1c.2621A= (p.Asp874=)
c.2699A= (p.Asp900=)
c.2144A= (p.Asp715=)
18g.44951961A>CCA402321840SETBP1c.2621A>C (p.Asp874Ala)
c.2699A>C (p.Asp900Ala)
c.2144A>C (p.Asp715Ala)
18g.44951961A>GCA402321841SETBP1c.2621A>G (p.Asp874Gly)
c.2699A>G (p.Asp900Gly)
c.2144A>G (p.Asp715Gly)
 ClinVar dbSNP
18g.44951961A>TCA402321842SETBP1c.2621A>T (p.Asp874Val)
c.2699A>T (p.Asp900Val)
c.2144A>T (p.Asp715Val)
18g.44951967_44951969delCA299698629SETBP1c.2627_2629del (p.Asn876del)
c.2705_2707del (p.Asn902del)
c.2150_2152del (p.Asn717del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44951962C>ACA402321843SETBP1c.2622C>A (p.Asp874Glu)
c.2700C>A (p.Asp900Glu)
c.2145C>A (p.Asp715Glu)
18g.44951962C>GCA402321844SETBP1c.2622C>G (p.Asp874Glu)
c.2700C>G (p.Asp900Glu)
c.2145C>G (p.Asp715Glu)
18g.44951962C>TCA503982159SETBP1c.2622C>T (p.Asp874=)
c.2700C>T (p.Asp900=)
c.2145C>T (p.Asp715=)
 ClinVar dbSNP gnomAD v4
18g.44951963A>CCA402321845SETBP1c.2623A>C (p.Asn875His)
c.2701A>C (p.Asn901His)
c.2146A>C (p.Asn716His)
18g.44951963A>GCA402321846SETBP1c.2623A>G (p.Asn875Asp)
c.2701A>G (p.Asn901Asp)
c.2146A>G (p.Asn716Asp)
18g.44951963A>TCA402321847SETBP1c.2623A>T (p.Asn875Tyr)
c.2701A>T (p.Asn901Tyr)
c.2146A>T (p.Asn716Tyr)
18g.44951964A=CA2300140793SETBP1c.2624A= (p.Asn875=)
c.2702A= (p.Asn901=)
c.2147A= (p.Asn716=)
18g.44951964A>CCA402321848SETBP1c.2624A>C (p.Asn875Thr)
c.2702A>C (p.Asn901Thr)
c.2147A>C (p.Asn716Thr)
18g.44951964A>GCA402321849SETBP1c.2624A>G (p.Asn875Ser)
c.2702A>G (p.Asn901Ser)
c.2147A>G (p.Asn716Ser)
 dbSNP
18g.44951964A>TCA402321850SETBP1c.2624A>T (p.Asn875Ile)
c.2702A>T (p.Asn901Ile)
c.2147A>T (p.Asn716Ile)
18g.44951965C>ACA402321851SETBP1c.2625C>A (p.Asn875Lys)
c.2703C>A (p.Asn901Lys)
c.2148C>A (p.Asn716Lys)
18g.44951965C>GCA402321852SETBP1c.2625C>G (p.Asn875Lys)
c.2703C>G (p.Asn901Lys)
c.2148C>G (p.Asn716Lys)
18g.44951965C>TCA503982161SETBP1c.2625C>T (p.Asn875=)
c.2703C>T (p.Asn901=)
c.2148C>T (p.Asn716=)
 gnomAD v3 gnomAD v4
18g.44951966A>CCA402321853SETBP1c.2626A>C (p.Asn876His)
c.2704A>C (p.Asn902His)
c.2149A>C (p.Asn717His)
18g.44951966A>GCA402321854SETBP1c.2626A>G (p.Asn876Asp)
c.2704A>G (p.Asn902Asp)
c.2149A>G (p.Asn717Asp)
18g.44951966A>TCA402321855SETBP1c.2626A>T (p.Asn876Tyr)
c.2704A>T (p.Asn902Tyr)
c.2149A>T (p.Asn717Tyr)
18g.44951967A=CA2300140794SETBP1c.2627A= (p.Asn876=)
c.2705A= (p.Asn902=)
c.2150A= (p.Asn717=)
18g.44951967A>CCA402321856SETBP1c.2627A>C (p.Asn876Thr)
c.2705A>C (p.Asn902Thr)
c.2150A>C (p.Asn717Thr)
18g.44951967A>GCA402321857SETBP1c.2627A>G (p.Asn876Ser)
c.2705A>G (p.Asn902Ser)
c.2150A>G (p.Asn717Ser)
 dbSNP gnomAD v4
18g.44951967A>TCA402321858SETBP1c.2627A>T (p.Asn876Ile)
c.2705A>T (p.Asn902Ile)
c.2150A>T (p.Asn717Ile)
18g.44951968C>ACA402321859SETBP1c.2628C>A (p.Asn876Lys)
c.2706C>A (p.Asn902Lys)
c.2151C>A (p.Asn717Lys)
18g.44951968C>GCA402321860SETBP1c.2628C>G (p.Asn876Lys)
c.2706C>G (p.Asn902Lys)
c.2151C>G (p.Asn717Lys)
18g.44951968C>TCA503982163SETBP1c.2628C>T (p.Asn876=)
c.2706C>T (p.Asn902=)
c.2151C>T (p.Asn717=)
 gnomAD v4
18g.44951969A>CCA402321861SETBP1c.2629A>C (p.Ser877Arg)
c.2707A>C (p.Ser903Arg)
c.2152A>C (p.Ser718Arg)
18g.44951969A>GCA402321862SETBP1c.2629A>G (p.Ser877Gly)
c.2707A>G (p.Ser903Gly)
c.2152A>G (p.Ser718Gly)
18g.44951969A>TCA402321863SETBP1c.2629A>T (p.Ser877Cys)
c.2707A>T (p.Ser903Cys)
c.2152A>T (p.Ser718Cys)
18g.44951970G>ACA402321864SETBP1c.2630G>A (p.Ser877Asn)
c.2708G>A (p.Ser903Asn)
c.2153G>A (p.Ser718Asn)
18g.44951970G>CCA402321865SETBP1c.2630G>C (p.Ser877Thr)
c.2708G>C (p.Ser903Thr)
c.2153G>C (p.Ser718Thr)
18g.44951970G>TCA402321866SETBP1c.2630G>T (p.Ser877Ile)
c.2708G>T (p.Ser903Ile)
c.2153G>T (p.Ser718Ile)
18g.44951971C>ACA402321867SETBP1c.2631C>A (p.Ser877Arg)
c.2709C>A (p.Ser903Arg)
c.2154C>A (p.Ser718Arg)
18g.44951971C=CA2300140795SETBP1c.2631C= (p.Ser877=)
c.2709C= (p.Ser903=)
c.2154C= (p.Ser718=)
18g.44951971C>GCA402321868SETBP1c.2631C>G (p.Ser877Arg)
c.2709C>G (p.Ser903Arg)
c.2154C>G (p.Ser718Arg)
18g.44951971C>TCA503982166SETBP1c.2631C>T (p.Ser877=)
c.2709C>T (p.Ser903=)
c.2154C>T (p.Ser718=)
 dbSNP gnomAD v4
18g.44951972A=CA2300140796SETBP1c.2632A= (p.Thr878=)
c.2710A= (p.Thr904=)
c.2155A= (p.Thr719=)
18g.44951972A>CCA402321869SETBP1c.2632A>C (p.Thr878Pro)
c.2710A>C (p.Thr904Pro)
c.2155A>C (p.Thr719Pro)
18g.44951972A>GCA402321870SETBP1c.2632A>G (p.Thr878Ala)
c.2710A>G (p.Thr904Ala)
c.2155A>G (p.Thr719Ala)
 dbSNP gnomAD v2 gnomAD v4
18g.44951972A>TCA402321871SETBP1c.2632A>T (p.Thr878Ser)
c.2710A>T (p.Thr904Ser)
c.2155A>T (p.Thr719Ser)
18g.44951973C>ACA402321872SETBP1c.2633C>A (p.Thr878Asn)
c.2711C>A (p.Thr904Asn)
c.2156C>A (p.Thr719Asn)

Number of alleles fetched