Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.44951674_44951855delCA2825002687SETBP1c.2334_2515del (p.Leu779PhefsTer23)
c.2412_2593del (p.Leu805PhefsTer23)
c.1857_2038del (p.Leu620PhefsTer23)
 ClinVar
18g.44951765C>ACA402321258SETBP1c.2425C>A (p.Gln809Lys)
c.2503C>A (p.Gln835Lys)
c.1948C>A (p.Gln650Lys)
18g.44951765C=CA2300140726SETBP1c.2425C= (p.Gln809=)
c.2503C= (p.Gln835=)
c.1948C= (p.Gln650=)
18g.44951765C>GCA402321259SETBP1c.2425C>G (p.Gln809Glu)
c.2503C>G (p.Gln835Glu)
c.1948C>G (p.Gln650Glu)
18g.44951765C>TCA402321261SETBP1c.2425C>T (p.Gln809Ter)
c.2503C>T (p.Gln835Ter)
c.1948C>T (p.Gln650Ter)
 ClinVar dbSNP
18g.44951766A=CA2300140727SETBP1c.2426A= (p.Gln809=)
c.2504A= (p.Gln835=)
c.1949A= (p.Gln650=)
18g.44951766A>CCA402321263SETBP1c.2426A>C (p.Gln809Pro)
c.2504A>C (p.Gln835Pro)
c.1949A>C (p.Gln650Pro)
18g.44951766A>GCA402321264SETBP1c.2426A>G (p.Gln809Arg)
c.2504A>G (p.Gln835Arg)
c.1949A>G (p.Gln650Arg)
18g.44951766A>TCA402321266SETBP1c.2426A>T (p.Gln809Leu)
c.2504A>T (p.Gln835Leu)
c.1949A>T (p.Gln650Leu)
 dbSNP
18g.44951767G>ACA503982041SETBP1c.2427G>A (p.Gln809=)
c.2505G>A (p.Gln835=)
c.1950G>A (p.Gln650=)
18g.44951767G>CCA402321269SETBP1c.2427G>C (p.Gln809His)
c.2505G>C (p.Gln835His)
c.1950G>C (p.Gln650His)
18g.44951767G>TCA402321268SETBP1c.2427G>T (p.Gln809His)
c.2505G>T (p.Gln835His)
c.1950G>T (p.Gln650His)
18g.44951768C>ACA402321271SETBP1c.2428C>A (p.Pro810Thr)
c.2506C>A (p.Pro836Thr)
c.1951C>A (p.Pro651Thr)
18g.44951768C>GCA402321272SETBP1c.2428C>G (p.Pro810Ala)
c.2506C>G (p.Pro836Ala)
c.1951C>G (p.Pro651Ala)
18g.44951768C>TCA402321273SETBP1c.2428C>T (p.Pro810Ser)
c.2506C>T (p.Pro836Ser)
c.1951C>T (p.Pro651Ser)
18g.44951769C>ACA402321275SETBP1c.2429C>A (p.Pro810His)
c.2507C>A (p.Pro836His)
c.1952C>A (p.Pro651His)
18g.44951769C>GCA402321277SETBP1c.2429C>G (p.Pro810Arg)
c.2507C>G (p.Pro836Arg)
c.1952C>G (p.Pro651Arg)
18g.44951769C>TCA402321279SETBP1c.2429C>T (p.Pro810Leu)
c.2507C>T (p.Pro836Leu)
c.1952C>T (p.Pro651Leu)
18g.44951770C>ACA503982042SETBP1c.2430C>A (p.Pro810=)
c.2508C>A (p.Pro836=)
c.1953C>A (p.Pro651=)
18g.44951770C>GCA503982043SETBP1c.2430C>G (p.Pro810=)
c.2508C>G (p.Pro836=)
c.1953C>G (p.Pro651=)
18g.44951770C>TCA503982044SETBP1c.2430C>T (p.Pro810=)
c.2508C>T (p.Pro836=)
c.1953C>T (p.Pro651=)
 gnomAD v4
18g.44951771A=CA2300140728SETBP1c.2431A= (p.Ile811=)
c.2509A= (p.Ile837=)
c.1954A= (p.Ile652=)
18g.44951771A>CCA402321280SETBP1c.2431A>C (p.Ile811Leu)
c.2509A>C (p.Ile837Leu)
c.1954A>C (p.Ile652Leu)
18g.44951771A>GCA402321282SETBP1c.2431A>G (p.Ile811Val)
c.2509A>G (p.Ile837Val)
c.1954A>G (p.Ile652Val)
 dbSNP gnomAD v4
18g.44951771A>TCA402321284SETBP1c.2431A>T (p.Ile811Phe)
c.2509A>T (p.Ile837Phe)
c.1954A>T (p.Ile652Phe)
 dbSNP gnomAD v4
18g.44951772T>ACA402321285SETBP1c.2432T>A (p.Ile811Asn)
c.2510T>A (p.Ile837Asn)
c.1955T>A (p.Ile652Asn)
18g.44951772T>CCA402321286SETBP1c.2432T>C (p.Ile811Thr)
c.2510T>C (p.Ile837Thr)
c.1955T>C (p.Ile652Thr)
18g.44951772T>GCA402321288SETBP1c.2432T>G (p.Ile811Ser)
c.2510T>G (p.Ile837Ser)
c.1955T>G (p.Ile652Ser)
18g.44951773C>ACA503982045SETBP1c.2433C>A (p.Ile811=)
c.2511C>A (p.Ile837=)
c.1956C>A (p.Ile652=)
18g.44951773C=CA2300140729SETBP1c.2433C= (p.Ile811=)
c.2511C= (p.Ile837=)
c.1956C= (p.Ile652=)
18g.44951773C>GCA402321290SETBP1c.2433C>G (p.Ile811Met)
c.2511C>G (p.Ile837Met)
c.1956C>G (p.Ile652Met)
18g.44951773C>TCA8945751SETBP1c.2433C>T (p.Ile811=)
c.2511C>T (p.Ile837=)
c.1956C>T (p.Ile652=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44951774A=CA2300140730SETBP1c.2434A= (p.Ser812=)
c.2512A= (p.Ser838=)
c.1957A= (p.Ser653=)
18g.44951774A>CCA402321292SETBP1c.2434A>C (p.Ser812Arg)
c.2512A>C (p.Ser838Arg)
c.1957A>C (p.Ser653Arg)
 dbSNP gnomAD v4
18g.44951774A>GCA402321294SETBP1c.2434A>G (p.Ser812Gly)
c.2512A>G (p.Ser838Gly)
c.1957A>G (p.Ser653Gly)
18g.44951774A>TCA402321296SETBP1c.2434A>T (p.Ser812Cys)
c.2512A>T (p.Ser838Cys)
c.1957A>T (p.Ser653Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44951775delCA2812309506SETBP1c.2435del (p.Ser812MetfsTer23)
c.2513del (p.Ser838MetfsTer23)
c.1958del (p.Ser653MetfsTer23)
18g.44951775G>ACA402321298SETBP1c.2435G>A (p.Ser812Asn)
c.2513G>A (p.Ser838Asn)
c.1958G>A (p.Ser653Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44951775G>CCA402321299SETBP1c.2435G>C (p.Ser812Thr)
c.2513G>C (p.Ser838Thr)
c.1958G>C (p.Ser653Thr)
18g.44951775G=CA2300140731SETBP1c.2435G= (p.Ser812=)
c.2513G= (p.Ser838=)
c.1958G= (p.Ser653=)
18g.44951775G>TCA402321300SETBP1c.2435G>T (p.Ser812Ile)
c.2513G>T (p.Ser838Ile)
c.1958G>T (p.Ser653Ile)
18g.44951776T>ACA402321301SETBP1c.2436T>A (p.Ser812Arg)
c.2514T>A (p.Ser838Arg)
c.1959T>A (p.Ser653Arg)
18g.44951776T>CCA503982046SETBP1c.2436T>C (p.Ser812=)
c.2514T>C (p.Ser838=)
c.1959T>C (p.Ser653=)
18g.44951776T>GCA402321303SETBP1c.2436T>G (p.Ser812Arg)
c.2514T>G (p.Ser838Arg)
c.1959T>G (p.Ser653Arg)
18g.44951777G>ACA402321305SETBP1c.2437G>A (p.Ala813Thr)
c.2515G>A (p.Ala839Thr)
c.1960G>A (p.Ala654Thr)
18g.44951777G>CCA402321307SETBP1c.2437G>C (p.Ala813Pro)
c.2515G>C (p.Ala839Pro)
c.1960G>C (p.Ala654Pro)
18g.44951777G>TCA402321308SETBP1c.2437G>T (p.Ala813Ser)
c.2515G>T (p.Ala839Ser)
c.1960G>T (p.Ala654Ser)
18g.44951778C>ACA402321313SETBP1c.2438C>A (p.Ala813Asp)
c.2516C>A (p.Ala839Asp)
c.1961C>A (p.Ala654Asp)
18g.44951778C=CA2300140732SETBP1c.2438C= (p.Ala813=)
c.2516C= (p.Ala839=)
c.1961C= (p.Ala654=)
18g.44951778C>GCA402321312SETBP1c.2438C>G (p.Ala813Gly)
c.2516C>G (p.Ala839Gly)
c.1961C>G (p.Ala654Gly)
18g.44951778C>TCA402321310SETBP1c.2438C>T (p.Ala813Val)
c.2516C>T (p.Ala839Val)
c.1961C>T (p.Ala654Val)
 dbSNP gnomAD v2 gnomAD v4
18g.44951779T>ACA503982047SETBP1c.2439T>A (p.Ala813=)
c.2517T>A (p.Ala839=)
c.1962T>A (p.Ala654=)
18g.44951779T>CCA503982048SETBP1c.2439T>C (p.Ala813=)
c.2517T>C (p.Ala839=)
c.1962T>C (p.Ala654=)
18g.44951779T>GCA503982049SETBP1c.2439T>G (p.Ala813=)
c.2517T>G (p.Ala839=)
c.1962T>G (p.Ala654=)
18g.44951780C>ACA402321315SETBP1c.2440C>A (p.Leu814Ile)
c.2518C>A (p.Leu840Ile)
c.1963C>A (p.Leu655Ile)
18g.44951780C>GCA402321317SETBP1c.2440C>G (p.Leu814Val)
c.2518C>G (p.Leu840Val)
c.1963C>G (p.Leu655Val)
18g.44951780C>TCA402321318SETBP1c.2440C>T (p.Leu814Phe)
c.2518C>T (p.Leu840Phe)
c.1963C>T (p.Leu655Phe)
18g.44951781T>ACA402321320SETBP1c.2441T>A (p.Leu814His)
c.2519T>A (p.Leu840His)
c.1964T>A (p.Leu655His)
18g.44951781T>CCA299698494SETBP1c.2441T>C (p.Leu814Pro)
c.2519T>C (p.Leu840Pro)
c.1964T>C (p.Leu655Pro)
 dbSNP
18g.44951781T>GCA402321322SETBP1c.2441T>G (p.Leu814Arg)
c.2519T>G (p.Leu840Arg)
c.1964T>G (p.Leu655Arg)
18g.44951781T=CA2300140733SETBP1c.2441T= (p.Leu814=)
c.2519T= (p.Leu840=)
c.1964T= (p.Leu655=)
18g.44951782T>ACA503982050SETBP1c.2442T>A (p.Leu814=)
c.2520T>A (p.Leu840=)
c.1965T>A (p.Leu655=)
18g.44951782T>CCA503982051SETBP1c.2442T>C (p.Leu814=)
c.2520T>C (p.Leu840=)
c.1965T>C (p.Leu655=)
18g.44951782T>GCA503982052SETBP1c.2442T>G (p.Leu814=)
c.2520T>G (p.Leu840=)
c.1965T>G (p.Leu655=)
18g.44951783C>ACA402321324SETBP1c.2443C>A (p.Pro815Thr)
c.2521C>A (p.Pro841Thr)
c.1966C>A (p.Pro656Thr)
18g.44951783C>GCA402321326SETBP1c.2443C>G (p.Pro815Ala)
c.2521C>G (p.Pro841Ala)
c.1966C>G (p.Pro656Ala)
 gnomAD v4
18g.44951783C>TCA402321327SETBP1c.2443C>T (p.Pro815Ser)
c.2521C>T (p.Pro841Ser)
c.1966C>T (p.Pro656Ser)
 COSMIC
18g.44951784C>ACA402321329SETBP1c.2444C>A (p.Pro815Gln)
c.2522C>A (p.Pro841Gln)
c.1967C>A (p.Pro656Gln)
18g.44951784C=CA2300140734SETBP1c.2444C= (p.Pro815=)
c.2522C= (p.Pro841=)
c.1967C= (p.Pro656=)
18g.44951784C>GCA402321330SETBP1c.2444C>G (p.Pro815Arg)
c.2522C>G (p.Pro841Arg)
c.1967C>G (p.Pro656Arg)
18g.44951784C>TCA402321331SETBP1c.2444C>T (p.Pro815Leu)
c.2522C>T (p.Pro841Leu)
c.1967C>T (p.Pro656Leu)
 dbSNP gnomAD v3 gnomAD v4
18g.44951785A=CA2300140735SETBP1c.2445A= (p.Pro815=)
c.2523A= (p.Pro841=)
c.1968A= (p.Pro656=)
18g.44951785A>CCA503982053SETBP1c.2445A>C (p.Pro815=)
c.2523A>C (p.Pro841=)
c.1968A>C (p.Pro656=)
18g.44951785A>GCA503982054SETBP1c.2445A>G (p.Pro815=)
c.2523A>G (p.Pro841=)
c.1968A>G (p.Pro656=)
 dbSNP gnomAD v4
18g.44951785A>TCA503982055SETBP1c.2445A>T (p.Pro815=)
c.2523A>T (p.Pro841=)
c.1968A>T (p.Pro656=)
18g.44951786A>CCA402321334SETBP1c.2446A>C (p.Thr816Pro)
c.2524A>C (p.Thr842Pro)
c.1969A>C (p.Thr657Pro)
18g.44951786A>GCA402321335SETBP1c.2446A>G (p.Thr816Ala)
c.2524A>G (p.Thr842Ala)
c.1969A>G (p.Thr657Ala)
 gnomAD v4
18g.44951786A>TCA402321333SETBP1c.2446A>T (p.Thr816Ser)
c.2524A>T (p.Thr842Ser)
c.1969A>T (p.Thr657Ser)
18g.44951787C>ACA402321339SETBP1c.2447C>A (p.Thr816Asn)
c.2525C>A (p.Thr842Asn)
c.1970C>A (p.Thr657Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.44951787C=CA2300140736SETBP1c.2447C= (p.Thr816=)
c.2525C= (p.Thr842=)
c.1970C= (p.Thr657=)
18g.44951787C>GCA8945752SETBP1c.2447C>G (p.Thr816Ser)
c.2525C>G (p.Thr842Ser)
c.1970C>G (p.Thr657Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.44951787C>TCA402321337SETBP1c.2447C>T (p.Thr816Ile)
c.2525C>T (p.Thr842Ile)
c.1970C>T (p.Thr657Ile)
 gnomAD v4
18g.44951788C>ACA503982056SETBP1c.2448C>A (p.Thr816=)
c.2526C>A (p.Thr842=)
c.1971C>A (p.Thr657=)
18g.44951788C>GCA503982057SETBP1c.2448C>G (p.Thr816=)
c.2526C>G (p.Thr842=)
c.1971C>G (p.Thr657=)
18g.44951788C>TCA503982058SETBP1c.2448C>T (p.Thr816=)
c.2526C>T (p.Thr842=)
c.1971C>T (p.Thr657=)
 gnomAD v4
18g.44951789A>CCA402321341SETBP1c.2449A>C (p.Lys817Gln)
c.2527A>C (p.Lys843Gln)
c.1972A>C (p.Lys658Gln)
18g.44951789A>GCA402321342SETBP1c.2449A>G (p.Lys817Glu)
c.2527A>G (p.Lys843Glu)
c.1972A>G (p.Lys658Glu)
18g.44951789A>TCA402321344SETBP1c.2449A>T (p.Lys817Ter)
c.2527A>T (p.Lys843Ter)
c.1972A>T (p.Lys658Ter)
18g.44951790A>CCA402321345SETBP1c.2450A>C (p.Lys817Thr)
c.2528A>C (p.Lys843Thr)
c.1973A>C (p.Lys658Thr)
18g.44951790A>GCA402321346SETBP1c.2450A>G (p.Lys817Arg)
c.2528A>G (p.Lys843Arg)
c.1973A>G (p.Lys658Arg)
18g.44951790A>TCA402321348SETBP1c.2450A>T (p.Lys817Ile)
c.2528A>T (p.Lys843Ile)
c.1973A>T (p.Lys658Ile)
18g.44951791A>CCA402321350SETBP1c.2451A>C (p.Lys817Asn)
c.2529A>C (p.Lys843Asn)
c.1974A>C (p.Lys658Asn)
18g.44951791A>GCA503982059SETBP1c.2451A>G (p.Lys817=)
c.2529A>G (p.Lys843=)
c.1974A>G (p.Lys658=)
18g.44951791A>TCA402321352SETBP1c.2451A>T (p.Lys817Asn)
c.2529A>T (p.Lys843Asn)
c.1974A>T (p.Lys658Asn)
18g.44951792A>CCA402321353SETBP1c.2452A>C (p.Thr818Pro)
c.2530A>C (p.Thr844Pro)
c.1975A>C (p.Thr659Pro)
18g.44951792A>GCA402321354SETBP1c.2452A>G (p.Thr818Ala)
c.2530A>G (p.Thr844Ala)
c.1975A>G (p.Thr659Ala)
18g.44951792A>TCA402321356SETBP1c.2452A>T (p.Thr818Ser)
c.2530A>T (p.Thr844Ser)
c.1975A>T (p.Thr659Ser)
 gnomAD v4
18g.44951793C>ACA402321358SETBP1c.2453C>A (p.Thr818Asn)
c.2531C>A (p.Thr844Asn)
c.1976C>A (p.Thr659Asn)
18g.44951793C=CA2300140737SETBP1c.2453C= (p.Thr818=)
c.2531C= (p.Thr844=)
c.1976C= (p.Thr659=)
18g.44951793C>GCA402321360SETBP1c.2453C>G (p.Thr818Ser)
c.2531C>G (p.Thr844Ser)
c.1976C>G (p.Thr659Ser)
18g.44951793C>TCA402321359SETBP1c.2453C>T (p.Thr818Ile)
c.2531C>T (p.Thr844Ile)
c.1976C>T (p.Thr659Ile)
 dbSNP gnomAD v4
18g.44951794C>ACA503982060SETBP1c.2454C>A (p.Thr818=)
c.2532C>A (p.Thr844=)
c.1977C>A (p.Thr659=)
18g.44951794C>GCA503982062SETBP1c.2454C>G (p.Thr818=)
c.2532C>G (p.Thr844=)
c.1977C>G (p.Thr659=)
18g.44951794C>TCA503982061SETBP1c.2454C>T (p.Thr818=)
c.2532C>T (p.Thr844=)
c.1977C>T (p.Thr659=)
18g.44951795C>ACA402321361SETBP1c.2455C>A (p.Gln819Lys)
c.2533C>A (p.Gln845Lys)
c.1978C>A (p.Gln660Lys)
18g.44951795C>GCA402321362SETBP1c.2455C>G (p.Gln819Glu)
c.2533C>G (p.Gln845Glu)
c.1978C>G (p.Gln660Glu)
18g.44951795C>TCA402321363SETBP1c.2455C>T (p.Gln819Ter)
c.2533C>T (p.Gln845Ter)
c.1978C>T (p.Gln660Ter)
18g.44951796A>CCA402321365SETBP1c.2456A>C (p.Gln819Pro)
c.2534A>C (p.Gln845Pro)
c.1979A>C (p.Gln660Pro)
18g.44951796A>GCA402321367SETBP1c.2456A>G (p.Gln819Arg)
c.2534A>G (p.Gln845Arg)
c.1979A>G (p.Gln660Arg)
18g.44951796A>TCA402321369SETBP1c.2456A>T (p.Gln819Leu)
c.2534A>T (p.Gln845Leu)
c.1979A>T (p.Gln660Leu)
18g.44951799delCA645613020SETBP1c.2459del (p.Lys820ArgfsTer15)
c.2537del (p.Lys846ArgfsTer15)
c.1982del (p.Lys661ArgfsTer15)
 COSMIC
18g.44951797A>CCA402321370SETBP1c.2457A>C (p.Gln819His)
c.2535A>C (p.Gln845His)
c.1980A>C (p.Gln660His)
18g.44951797A>GCA503982063SETBP1c.2457A>G (p.Gln819=)
c.2535A>G (p.Gln845=)
c.1980A>G (p.Gln660=)
18g.44951797A>TCA402321371SETBP1c.2457A>T (p.Gln819His)
c.2535A>T (p.Gln845His)
c.1980A>T (p.Gln660His)
18g.44951798A=CA2300140738SETBP1c.2458A= (p.Lys820=)
c.2536A= (p.Lys846=)
c.1981A= (p.Lys661=)
18g.44951798A>CCA402321374SETBP1c.2458A>C (p.Lys820Gln)
c.2536A>C (p.Lys846Gln)
c.1981A>C (p.Lys661Gln)
18g.44951798A>GCA402321375SETBP1c.2458A>G (p.Lys820Glu)
c.2536A>G (p.Lys846Glu)
c.1981A>G (p.Lys661Glu)
 dbSNP gnomAD v3 gnomAD v4
18g.44951798A>TCA402321377SETBP1c.2458A>T (p.Lys820Ter)
c.2536A>T (p.Lys846Ter)
c.1981A>T (p.Lys661Ter)
18g.44951799A=CA2300140739SETBP1c.2459A= (p.Lys820=)
c.2537A= (p.Lys846=)
c.1982A= (p.Lys661=)
18g.44951799A>CCA402321380SETBP1c.2459A>C (p.Lys820Thr)
c.2537A>C (p.Lys846Thr)
c.1982A>C (p.Lys661Thr)
 gnomAD v4
18g.44951799A>GCA402321381SETBP1c.2459A>G (p.Lys820Arg)
c.2537A>G (p.Lys846Arg)
c.1982A>G (p.Lys661Arg)
18g.44951799A>TCA402321378SETBP1c.2459A>T (p.Lys820Met)
c.2537A>T (p.Lys846Met)
c.1982A>T (p.Lys661Met)
 dbSNP
18g.44951800G>ACA503982064SETBP1c.2460G>A (p.Lys820=)
c.2538G>A (p.Lys846=)
c.1983G>A (p.Lys661=)
 dbSNP gnomAD v4
18g.44951800G>CCA402321383SETBP1c.2460G>C (p.Lys820Asn)
c.2538G>C (p.Lys846Asn)
c.1983G>C (p.Lys661Asn)
18g.44951800G=CA2300140740SETBP1c.2460G= (p.Lys820=)
c.2538G= (p.Lys846=)
c.1983G= (p.Lys661=)
18g.44951800G>TCA402321385SETBP1c.2460G>T (p.Lys820Asn)
c.2538G>T (p.Lys846Asn)
c.1983G>T (p.Lys661Asn)
18g.44951801G>ACA402321386SETBP1c.2461G>A (p.Gly821Arg)
c.2539G>A (p.Gly847Arg)
c.1984G>A (p.Gly662Arg)
18g.44951801G>CCA402321388SETBP1c.2461G>C (p.Gly821Arg)
c.2539G>C (p.Gly847Arg)
c.1984G>C (p.Gly662Arg)
18g.44951801G>TCA402321390SETBP1c.2461G>T (p.Gly821Ter)
c.2539G>T (p.Gly847Ter)
c.1984G>T (p.Gly662Ter)
18g.44951802G>ACA402321392SETBP1c.2462G>A (p.Gly821Glu)
c.2540G>A (p.Gly847Glu)
c.1985G>A (p.Gly662Glu)
18g.44951802G>CCA402321393SETBP1c.2462G>C (p.Gly821Ala)
c.2540G>C (p.Gly847Ala)
c.1985G>C (p.Gly662Ala)
18g.44951802G>TCA402321394SETBP1c.2462G>T (p.Gly821Val)
c.2540G>T (p.Gly847Val)
c.1985G>T (p.Gly662Val)
18g.44951802_44951803delinsGACA2300140741SETBP1c.2462_2463delinsGA (p.Gly821=)
c.2540_2541delinsGA (p.Gly847=)
c.1985_1986delinsGA (p.Gly662=)
18g.44951803A>CCA503982065SETBP1c.2463A>C (p.Gly821=)
c.2541A>C (p.Gly847=)
c.1986A>C (p.Gly662=)
18g.44951803A>GCA503982066SETBP1c.2463A>G (p.Gly821=)
c.2541A>G (p.Gly847=)
c.1986A>G (p.Gly662=)
18g.44951803A>TCA503982067SETBP1c.2463A>T (p.Gly821=)
c.2541A>T (p.Gly847=)
c.1986A>T (p.Gly662=)
18g.44951804delCA170958SETBP1c.2464del (p.Ile822TyrfsTer13)
c.2542del (p.Ile848TyrfsTer13)
c.1987del (p.Ile663TyrfsTer13)
 ClinVar dbSNP
18g.44951804A>CCA402321396SETBP1c.2464A>C (p.Ile822Leu)
c.2542A>C (p.Ile848Leu)
c.1987A>C (p.Ile663Leu)
18g.44951804A>GCA402321398SETBP1c.2464A>G (p.Ile822Val)
c.2542A>G (p.Ile848Val)
c.1987A>G (p.Ile663Val)
18g.44951804A>TCA402321399SETBP1c.2464A>T (p.Ile822Leu)
c.2542A>T (p.Ile848Leu)
c.1987A>T (p.Ile663Leu)
18g.44951805T>ACA402321402SETBP1c.2465T>A (p.Ile822Lys)
c.2543T>A (p.Ile848Lys)
c.1988T>A (p.Ile663Lys)
18g.44951805T>CCA402321404SETBP1c.2465T>C (p.Ile822Thr)
c.2543T>C (p.Ile848Thr)
c.1988T>C (p.Ile663Thr)
18g.44951805T>GCA402321401SETBP1c.2465T>G (p.Ile822Arg)
c.2543T>G (p.Ile848Arg)
c.1988T>G (p.Ile663Arg)
18g.44951806A>CCA503982068SETBP1c.2466A>C (p.Ile822=)
c.2544A>C (p.Ile848=)
c.1989A>C (p.Ile663=)
18g.44951806A>GCA402321406SETBP1c.2466A>G (p.Ile822Met)
c.2544A>G (p.Ile848Met)
c.1989A>G (p.Ile663Met)
18g.44951806A>TCA503982069SETBP1c.2466A>T (p.Ile822=)
c.2544A>T (p.Ile848=)
c.1989A>T (p.Ile663=)
18g.44951807C>ACA402321407SETBP1c.2467C>A (p.His823Asn)
c.2545C>A (p.His849Asn)
c.1990C>A (p.His664Asn)
18g.44951807C>GCA402321409SETBP1c.2467C>G (p.His823Asp)
c.2545C>G (p.His849Asp)
c.1990C>G (p.His664Asp)
18g.44951807C>TCA402321410SETBP1c.2467C>T (p.His823Tyr)
c.2545C>T (p.His849Tyr)
c.1990C>T (p.His664Tyr)
 gnomAD v4
18g.44951808A>CCA402321412SETBP1c.2468A>C (p.His823Pro)
c.2546A>C (p.His849Pro)
c.1991A>C (p.His664Pro)
18g.44951808A>GCA402321413SETBP1c.2468A>G (p.His823Arg)
c.2546A>G (p.His849Arg)
c.1991A>G (p.His664Arg)
18g.44951808A>TCA402321415SETBP1c.2468A>T (p.His823Leu)
c.2546A>T (p.His849Leu)
c.1991A>T (p.His664Leu)
18g.44951809C>ACA402321417SETBP1c.2469C>A (p.His823Gln)
c.2547C>A (p.His849Gln)
c.1992C>A (p.His664Gln)
18g.44951809C=CA2300140742SETBP1c.2469C= (p.His823=)
c.2547C= (p.His849=)
c.1992C= (p.His664=)
18g.44951809C>GCA402321418SETBP1c.2469C>G (p.His823Gln)
c.2547C>G (p.His849Gln)
c.1992C>G (p.His664Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.44951809C>TCA503982070SETBP1c.2469C>T (p.His823=)
c.2547C>T (p.His849=)
c.1992C>T (p.His664=)
18g.44951810A=CA2300140743SETBP1c.2470A= (p.Ser824=)
c.2548A= (p.Ser850=)
c.1993A= (p.Ser665=)
18g.44951810A>CCA402321420SETBP1c.2470A>C (p.Ser824Arg)
c.2548A>C (p.Ser850Arg)
c.1993A>C (p.Ser665Arg)
18g.44951810A>GCA402321421SETBP1c.2470A>G (p.Ser824Gly)
c.2548A>G (p.Ser850Gly)
c.1993A>G (p.Ser665Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.44951810A>TCA402321423SETBP1c.2470A>T (p.Ser824Cys)
c.2548A>T (p.Ser850Cys)
c.1993A>T (p.Ser665Cys)
18g.44951811G>ACA402321425SETBP1c.2471G>A (p.Ser824Asn)
c.2549G>A (p.Ser850Asn)
c.1994G>A (p.Ser665Asn)
 gnomAD v4
18g.44951811G>CCA402321427SETBP1c.2471G>C (p.Ser824Thr)
c.2549G>C (p.Ser850Thr)
c.1994G>C (p.Ser665Thr)
18g.44951811G>TCA402321428SETBP1c.2471G>T (p.Ser824Ile)
c.2549G>T (p.Ser850Ile)
c.1994G>T (p.Ser665Ile)
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=)
18g.44951827G>ACA503982090SETBP1c.2487G>A (p.Leu829=)
c.2565G>A (p.Leu855=)
c.2010G>A (p.Leu670=)
18g.44951827G>CCA503982091SETBP1c.2487G>C (p.Leu829=)
c.2565G>C (p.Leu855=)
c.2010G>C (p.Leu670=)
18g.44951827G>TCA503982092SETBP1c.2487G>T (p.Leu829=)
c.2565G>T (p.Leu855=)
c.2010G>T (p.Leu670=)
18g.44951828T>ACA402321483SETBP1c.2488T>A (p.Ser830Thr)
c.2566T>A (p.Ser856Thr)
c.2011T>A (p.Ser671Thr)
18g.44951828T>CCA402321487SETBP1c.2488T>C (p.Ser830Pro)
c.2566T>C (p.Ser856Pro)
c.2011T>C (p.Ser671Pro)
18g.44951828T>GCA402321485SETBP1c.2488T>G (p.Ser830Ala)
c.2566T>G (p.Ser856Ala)
c.2011T>G (p.Ser671Ala)
18g.44951829C>ACA402321489SETBP1c.2489C>A (p.Ser830Tyr)
c.2567C>A (p.Ser856Tyr)
c.2012C>A (p.Ser671Tyr)
18g.44951829C>GCA402321490SETBP1c.2489C>G (p.Ser830Cys)
c.2567C>G (p.Ser856Cys)
c.2012C>G (p.Ser671Cys)
18g.44951829C>TCA402321492SETBP1c.2489C>T (p.Ser830Phe)
c.2567C>T (p.Ser856Phe)
c.2012C>T (p.Ser671Phe)
 COSMIC
18g.44951830T>ACA503982095SETBP1c.2490T>A (p.Ser830=)
c.2568T>A (p.Ser856=)
c.2013T>A (p.Ser671=)
18g.44951830T>CCA503982094SETBP1c.2490T>C (p.Ser830=)
c.2568T>C (p.Ser856=)
c.2013T>C (p.Ser671=)
18g.44951830T>GCA503982093SETBP1c.2490T>G (p.Ser830=)
c.2568T>G (p.Ser856=)
c.2013T>G (p.Ser671=)
18g.44951831C>ACA402321494SETBP1c.2491C>A (p.Pro831Thr)
c.2569C>A (p.Pro857Thr)
c.2014C>A (p.Pro672Thr)
18g.44951831C>GCA402321495SETBP1c.2491C>G (p.Pro831Ala)
c.2569C>G (p.Pro857Ala)
c.2014C>G (p.Pro672Ala)
 dbSNP
18g.44951831C>TCA402321497SETBP1c.2491C>T (p.Pro831Ser)
c.2569C>T (p.Pro857Ser)
c.2014C>T (p.Pro672Ser)
 gnomAD v4
18g.44951832C>ACA402321499SETBP1c.2492C>A (p.Pro831Gln)
c.2570C>A (p.Pro857Gln)
c.2015C>A (p.Pro672Gln)
 COSMIC
18g.44951832C>GCA402321500SETBP1c.2492C>G (p.Pro831Arg)
c.2570C>G (p.Pro857Arg)
c.2015C>G (p.Pro672Arg)
18g.44951832C>TCA402321502SETBP1c.2492C>T (p.Pro831Leu)
c.2570C>T (p.Pro857Leu)
c.2015C>T (p.Pro672Leu)
18g.44951833A>CCA503982097SETBP1c.2493A>C (p.Pro831=)
c.2571A>C (p.Pro857=)
c.2016A>C (p.Pro672=)
 ClinVar
18g.44951833A>GCA503982098SETBP1c.2493A>G (p.Pro831=)
c.2571A>G (p.Pro857=)
c.2016A>G (p.Pro672=)
18g.44951833A>TCA503982099SETBP1c.2493A>T (p.Pro831=)
c.2571A>T (p.Pro857=)
c.2016A>T (p.Pro672=)
18g.44951834C>ACA402321503SETBP1c.2494C>A (p.Pro832Thr)
c.2572C>A (p.Pro858Thr)
c.2017C>A (p.Pro673Thr)
18g.44951834C=CA2300140749SETBP1c.2494C= (p.Pro832=)
c.2572C= (p.Pro858=)
c.2017C= (p.Pro673=)
18g.44951834C>GCA402321504SETBP1c.2494C>G (p.Pro832Ala)
c.2572C>G (p.Pro858Ala)
c.2017C>G (p.Pro673Ala)
18g.44951834C>TCA402321505SETBP1c.2494C>T (p.Pro832Ser)
c.2572C>T (p.Pro858Ser)
c.2017C>T (p.Pro673Ser)
 dbSNP gnomAD v2
18g.44951835C>ACA402321511SETBP1c.2495C>A (p.Pro832His)
c.2573C>A (p.Pro858His)
c.2018C>A (p.Pro673His)
 dbSNP
18g.44951835C=CA2300140750SETBP1c.2495C= (p.Pro832=)
c.2573C= (p.Pro858=)
c.2018C= (p.Pro673=)
18g.44951835C>GCA402321507SETBP1c.2495C>G (p.Pro832Arg)
c.2573C>G (p.Pro858Arg)
c.2018C>G (p.Pro673Arg)
18g.44951835C>TCA402321509SETBP1c.2495C>T (p.Pro832Leu)
c.2573C>T (p.Pro858Leu)
c.2018C>T (p.Pro673Leu)
 COSMIC
18g.44951836C>ACA503982103SETBP1c.2496C>A (p.Pro832=)
c.2574C>A (p.Pro858=)
c.2019C>A (p.Pro673=)
18g.44951836C>GCA503982104SETBP1c.2496C>G (p.Pro832=)
c.2574C>G (p.Pro858=)
c.2019C>G (p.Pro673=)
18g.44951836C>TCA503982105SETBP1c.2496C>T (p.Pro832=)
c.2574C>T (p.Pro858=)
c.2019C>T (p.Pro673=)
18g.44951837A>CCA503982106SETBP1c.2497A>C (p.Arg833=)
c.2575A>C (p.Arg859=)
c.2020A>C (p.Arg674=)
18g.44951837A>GCA402321512SETBP1c.2497A>G (p.Arg833Gly)
c.2575A>G (p.Arg859Gly)
c.2020A>G (p.Arg674Gly)
18g.44951837A>TCA402321513SETBP1c.2497A>T (p.Arg833Ter)
c.2575A>T (p.Arg859Ter)
c.2020A>T (p.Arg674Ter)
 COSMIC
18g.44951838G>ACA402321515SETBP1c.2498G>A (p.Arg833Lys)
c.2576G>A (p.Arg859Lys)
c.2021G>A (p.Arg674Lys)
 gnomAD v4
18g.44951838G>CCA402321516SETBP1c.2498G>C (p.Arg833Thr)
c.2576G>C (p.Arg859Thr)
c.2021G>C (p.Arg674Thr)
 gnomAD v4
18g.44951838G>TCA402321518SETBP1c.2498G>T (p.Arg833Ile)
c.2576G>T (p.Arg859Ile)
c.2021G>T (p.Arg674Ile)
18g.44951839A>CCA402321519SETBP1c.2499A>C (p.Arg833Ser)
c.2577A>C (p.Arg859Ser)
c.2022A>C (p.Arg674Ser)
18g.44951839A>GCA503982108SETBP1c.2499A>G (p.Arg833=)
c.2577A>G (p.Arg859=)
c.2022A>G (p.Arg674=)
18g.44951839A>TCA402321521SETBP1c.2499A>T (p.Arg833Ser)
c.2577A>T (p.Arg859Ser)
c.2022A>T (p.Arg674Ser)
18g.44951840C>ACA402321522SETBP1c.2500C>A (p.Leu834Met)
c.2578C>A (p.Leu860Met)
c.2023C>A (p.Leu675Met)
 dbSNP
18g.44951840C=CA2300140751SETBP1c.2500C= (p.Leu834=)
c.2578C= (p.Leu860=)
c.2023C= (p.Leu675=)
18g.44951840C>GCA402321524SETBP1c.2500C>G (p.Leu834Val)
c.2578C>G (p.Leu860Val)
c.2023C>G (p.Leu675Val)
18g.44951840C>TCA8945753SETBP1c.2500C>T (p.Leu834=)
c.2578C>T (p.Leu860=)
c.2023C>T (p.Leu675=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44951841T>ACA402321529SETBP1c.2501T>A (p.Leu834Gln)
c.2579T>A (p.Leu860Gln)
c.2024T>A (p.Leu675Gln)
18g.44951841T>CCA402321528SETBP1c.2501T>C (p.Leu834Pro)
c.2579T>C (p.Leu860Pro)
c.2024T>C (p.Leu675Pro)
18g.44951841T>GCA402321526SETBP1c.2501T>G (p.Leu834Arg)
c.2579T>G (p.Leu860Arg)
c.2024T>G (p.Leu675Arg)
18g.44951842G>ACA503982110SETBP1c.2502G>A (p.Leu834=)
c.2580G>A (p.Leu860=)
c.2025G>A (p.Leu675=)
18g.44951842G>CCA503982111SETBP1c.2502G>C (p.Leu834=)
c.2580G>C (p.Leu860=)
c.2025G>C (p.Leu675=)
18g.44951842G>TCA503982112SETBP1c.2502G>T (p.Leu834=)
c.2580G>T (p.Leu860=)
c.2025G>T (p.Leu675=)
18g.44951843A=CA2300140752SETBP1c.2503A= (p.Met835=)
c.2581A= (p.Met861=)
c.2026A= (p.Met676=)
18g.44951843A>CCA402321530SETBP1c.2503A>C (p.Met835Leu)
c.2581A>C (p.Met861Leu)
c.2026A>C (p.Met676Leu)
18g.44951843A>GCA402321534SETBP1c.2503A>G (p.Met835Val)
c.2581A>G (p.Met861Val)
c.2026A>G (p.Met676Val)
 dbSNP
18g.44951843A>TCA402321532SETBP1c.2503A>T (p.Met835Leu)
c.2581A>T (p.Met861Leu)
c.2026A>T (p.Met676Leu)
18g.44951844T>ACA402321536SETBP1c.2504T>A (p.Met835Lys)
c.2582T>A (p.Met861Lys)
c.2027T>A (p.Met676Lys)
 ClinVar
18g.44951844T>CCA402321537SETBP1c.2504T>C (p.Met835Thr)
c.2582T>C (p.Met861Thr)
c.2027T>C (p.Met676Thr)
18g.44951844T>GCA402321538SETBP1c.2504T>G (p.Met835Arg)
c.2582T>G (p.Met861Arg)
c.2027T>G (p.Met676Arg)
18g.44951845G>ACA402321539SETBP1c.2505G>A (p.Met835Ile)
c.2583G>A (p.Met861Ile)
c.2028G>A (p.Met676Ile)
 gnomAD v4
18g.44951845G>CCA402321541SETBP1c.2505G>C (p.Met835Ile)
c.2583G>C (p.Met861Ile)
c.2028G>C (p.Met676Ile)
18g.44951845G>TCA402321542SETBP1c.2505G>T (p.Met835Ile)
c.2583G>T (p.Met861Ile)
c.2028G>T (p.Met676Ile)
18g.44951846G>ACA402321544SETBP1c.2506G>A (p.Ala836Thr)
c.2584G>A (p.Ala862Thr)
c.2029G>A (p.Ala677Thr)
 ClinVar gnomAD v4
18g.44951846G>CCA402321546SETBP1c.2506G>C (p.Ala836Pro)
c.2584G>C (p.Ala862Pro)
c.2029G>C (p.Ala677Pro)
18g.44951846G>TCA402321547SETBP1c.2506G>T (p.Ala836Ser)
c.2584G>T (p.Ala862Ser)
c.2029G>T (p.Ala677Ser)
18g.44951847C>ACA402321549SETBP1c.2507C>A (p.Ala836Asp)
c.2585C>A (p.Ala862Asp)
c.2030C>A (p.Ala677Asp)
18g.44951847C>GCA402321551SETBP1c.2507C>G (p.Ala836Gly)
c.2585C>G (p.Ala862Gly)
c.2030C>G (p.Ala677Gly)
18g.44951847C>TCA402321552SETBP1c.2507C>T (p.Ala836Val)
c.2585C>T (p.Ala862Val)
c.2030C>T (p.Ala677Val)
18g.44951848C>ACA503982114SETBP1c.2508C>A (p.Ala836=)
c.2586C>A (p.Ala862=)
c.2031C>A (p.Ala677=)
18g.44951848C>GCA503982115SETBP1c.2508C>G (p.Ala836=)
c.2586C>G (p.Ala862=)
c.2031C>G (p.Ala677=)
18g.44951848C>TCA503982116SETBP1c.2508C>T (p.Ala836=)
c.2586C>T (p.Ala862=)
c.2031C>T (p.Ala677=)
18g.44951849A>CCA402321554SETBP1c.2509A>C (p.Asn837His)
c.2587A>C (p.Asn863His)
c.2032A>C (p.Asn678His)
18g.44951849A>GCA402321556SETBP1c.2509A>G (p.Asn837Asp)
c.2587A>G (p.Asn863Asp)
c.2032A>G (p.Asn678Asp)
18g.44951849A>TCA402321555SETBP1c.2509A>T (p.Asn837Tyr)
c.2587A>T (p.Asn863Tyr)
c.2032A>T (p.Asn678Tyr)
18g.44951850A>CCA402321558SETBP1c.2510A>C (p.Asn837Thr)
c.2588A>C (p.Asn863Thr)
c.2033A>C (p.Asn678Thr)
18g.44951850A>GCA402321560SETBP1c.2510A>G (p.Asn837Ser)
c.2588A>G (p.Asn863Ser)
c.2033A>G (p.Asn678Ser)
 gnomAD v4
18g.44951850A>TCA402321561SETBP1c.2510A>T (p.Asn837Ile)
c.2588A>T (p.Asn863Ile)
c.2033A>T (p.Asn678Ile)
18g.44951851C>ACA402321563SETBP1c.2511C>A (p.Asn837Lys)
c.2589C>A (p.Asn863Lys)
c.2034C>A (p.Asn678Lys)
18g.44951851C=CA2300140753SETBP1c.2511C= (p.Asn837=)
c.2589C= (p.Asn863=)
c.2034C= (p.Asn678=)
18g.44951851C>GCA402321564SETBP1c.2511C>G (p.Asn837Lys)
c.2589C>G (p.Asn863Lys)
c.2034C>G (p.Asn678Lys)
18g.44951851C>TCA8945754SETBP1c.2511C>T (p.Asn837=)
c.2589C>T (p.Asn863=)
c.2034C>T (p.Asn678=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44951852T>ACA402321567SETBP1c.2512T>A (p.Ser838Thr)
c.2590T>A (p.Ser864Thr)
c.2035T>A (p.Ser679Thr)
18g.44951852T>CCA402321568SETBP1c.2512T>C (p.Ser838Pro)
c.2590T>C (p.Ser864Pro)
c.2035T>C (p.Ser679Pro)
18g.44951852T>GCA402321570SETBP1c.2512T>G (p.Ser838Ala)
c.2590T>G (p.Ser864Ala)
c.2035T>G (p.Ser679Ala)
18g.44951852_44951853delinsTCCA2300140754SETBP1c.2512_2513delinsTC (p.Ser838=)
c.2590_2591delinsTC (p.Ser864=)
c.2035_2036delinsTC (p.Ser679=)
18g.44951853C>ACA402321572SETBP1c.2513C>A (p.Ser838Tyr)
c.2591C>A (p.Ser864Tyr)
c.2036C>A (p.Ser679Tyr)
18g.44951853C>GCA402321574SETBP1c.2513C>G (p.Ser838Cys)
c.2591C>G (p.Ser864Cys)
c.2036C>G (p.Ser679Cys)
18g.44951853C>TCA402321571SETBP1c.2513C>T (p.Ser838Phe)
c.2591C>T (p.Ser864Phe)
c.2036C>T (p.Ser679Phe)
18g.44951856delCA1139666045SETBP1c.2516del (p.Pro839LeufsTer10)
c.2594del (p.Pro865LeufsTer10)
c.2039del (p.Pro680LeufsTer10)
 ClinVar dbSNP
18g.44951854C>ACA503982121SETBP1c.2514C>A (p.Ser838=)
c.2592C>A (p.Ser864=)
c.2037C>A (p.Ser679=)
 gnomAD v4
18g.44951854C>GCA503982122SETBP1c.2514C>G (p.Ser838=)
c.2592C>G (p.Ser864=)
c.2037C>G (p.Ser679=)
18g.44951854C>TCA503982123SETBP1c.2514C>T (p.Ser838=)
c.2592C>T (p.Ser864=)
c.2037C>T (p.Ser679=)
18g.44951855C>ACA402321575SETBP1c.2515C>A (p.Pro839Thr)
c.2593C>A (p.Pro865Thr)
c.2038C>A (p.Pro680Thr)
18g.44951855C>GCA402321577SETBP1c.2515C>G (p.Pro839Ala)
c.2593C>G (p.Pro865Ala)
c.2038C>G (p.Pro680Ala)
18g.44951855C>TCA402321578SETBP1c.2515C>T (p.Pro839Ser)
c.2593C>T (p.Pro865Ser)
c.2038C>T (p.Pro680Ser)
 gnomAD v4
18g.44951856C>ACA402321580SETBP1c.2516C>A (p.Pro839His)
c.2594C>A (p.Pro865His)
c.2039C>A (p.Pro680His)
18g.44951856C>GCA402321581SETBP1c.2516C>G (p.Pro839Arg)
c.2594C>G (p.Pro865Arg)
c.2039C>G (p.Pro680Arg)
18g.44951856C>TCA402321582SETBP1c.2516C>T (p.Pro839Leu)
c.2594C>T (p.Pro865Leu)
c.2039C>T (p.Pro680Leu)
18g.44951857T>ACA503982124SETBP1c.2517T>A (p.Pro839=)
c.2595T>A (p.Pro865=)
c.2040T>A (p.Pro680=)
18g.44951857T>CCA503982128SETBP1c.2517T>C (p.Pro839=)
c.2595T>C (p.Pro865=)
c.2040T>C (p.Pro680=)
18g.44951857T>GCA503982126SETBP1c.2517T>G (p.Pro839=)
c.2595T>G (p.Pro865=)
c.2040T>G (p.Pro680=)
18g.44951858T>ACA402321584SETBP1c.2518T>A (p.Ser840Thr)
c.2596T>A (p.Ser866Thr)
c.2041T>A (p.Ser681Thr)
18g.44951858T>CCA402321585SETBP1c.2518T>C (p.Ser840Pro)
c.2596T>C (p.Ser866Pro)
c.2041T>C (p.Ser681Pro)
 ClinVar
18g.44951858T>GCA402321586SETBP1c.2518T>G (p.Ser840Ala)
c.2596T>G (p.Ser866Ala)
c.2041T>G (p.Ser681Ala)
18g.44951859C>ACA402321588SETBP1c.2519C>A (p.Ser840Ter)
c.2597C>A (p.Ser866Ter)
c.2042C>A (p.Ser681Ter)
18g.44951859C>GCA402321590SETBP1c.2519C>G (p.Ser840Ter)
c.2597C>G (p.Ser866Ter)
c.2042C>G (p.Ser681Ter)
18g.44951859C>TCA402321592SETBP1c.2519C>T (p.Ser840Leu)
c.2597C>T (p.Ser866Leu)
c.2042C>T (p.Ser681Leu)
18g.44951860A>CCA503982130SETBP1c.2520A>C (p.Ser840=)
c.2598A>C (p.Ser866=)
c.2043A>C (p.Ser681=)
18g.44951860A>GCA503982131SETBP1c.2520A>G (p.Ser840=)
c.2598A>G (p.Ser866=)
c.2043A>G (p.Ser681=)
18g.44951860A>TCA503982132SETBP1c.2520A>T (p.Ser840=)
c.2598A>T (p.Ser866=)
c.2043A>T (p.Ser681=)
18g.44951861C>ACA402321595SETBP1c.2521C>A (p.His841Asn)
c.2599C>A (p.His867Asn)
c.2044C>A (p.His682Asn)
18g.44951861C>GCA402321597SETBP1c.2521C>G (p.His841Asp)
c.2599C>G (p.His867Asp)
c.2044C>G (p.His682Asp)
18g.44951861C>TCA402321593SETBP1c.2521C>T (p.His841Tyr)
c.2599C>T (p.His867Tyr)
c.2044C>T (p.His682Tyr)
 gnomAD v4
18g.44951862A=CA2300140755SETBP1c.2522A= (p.His841=)
c.2600A= (p.His867=)
c.2045A= (p.His682=)
18g.44951862A>CCA402321598SETBP1c.2522A>C (p.His841Pro)
c.2600A>C (p.His867Pro)
c.2045A>C (p.His682Pro)
 dbSNP gnomAD v2
18g.44951862A>GCA402321600SETBP1c.2522A>G (p.His841Arg)
c.2600A>G (p.His867Arg)
c.2045A>G (p.His682Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
18g.44951862A>TCA402321601SETBP1c.2522A>T (p.His841Leu)
c.2600A>T (p.His867Leu)
c.2045A>T (p.His682Leu)
18g.44951863C>ACA402321603SETBP1c.2523C>A (p.His841Gln)
c.2601C>A (p.His867Gln)
c.2046C>A (p.His682Gln)
 gnomAD v4
18g.44951863C=CA2300140756SETBP1c.2523C= (p.His841=)
c.2601C= (p.His867=)
c.2046C= (p.His682=)
18g.44951863C>GCA402321605SETBP1c.2523C>G (p.His841Gln)
c.2601C>G (p.His867Gln)
c.2046C>G (p.His682Gln)
18g.44951863C>TCA8945755SETBP1c.2523C>T (p.His841=)
c.2601C>T (p.His867=)
c.2046C>T (p.His682=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44951864C>ACA402321606SETBP1c.2524C>A (p.Leu842Met)
c.2602C>A (p.Leu868Met)
c.2047C>A (p.Leu683Met)
18g.44951864C>GCA402321608SETBP1c.2524C>G (p.Leu842Val)
c.2602C>G (p.Leu868Val)
c.2047C>G (p.Leu683Val)
 gnomAD v4
18g.44951864C>TCA503982134SETBP1c.2524C>T (p.Leu842=)
c.2602C>T (p.Leu868=)
c.2047C>T (p.Leu683=)
18g.44951865T>ACA402321610SETBP1c.2525T>A (p.Leu842Gln)
c.2603T>A (p.Leu868Gln)
c.2048T>A (p.Leu683Gln)
18g.44951865T>CCA402321611SETBP1c.2525T>C (p.Leu842Pro)
c.2603T>C (p.Leu868Pro)
c.2048T>C (p.Leu683Pro)
18g.44951865T>GCA402321612SETBP1c.2525T>G (p.Leu842Arg)
c.2603T>G (p.Leu868Arg)
c.2048T>G (p.Leu683Arg)

Number of alleles fetched