Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
18g.44951866G>ACA503982135SETBP1c.2526G>A (p.Leu842=)
c.2604G>A (p.Leu868=)
c.2049G>A (p.Leu683=)
18g.44951866G>CCA503982136SETBP1c.2526G>C (p.Leu842=)
c.2604G>C (p.Leu868=)
c.2049G>C (p.Leu683=)
18g.44951866G>TCA503982137SETBP1c.2526G>T (p.Leu842=)
c.2604G>T (p.Leu868=)
c.2049G>T (p.Leu683=)
18g.44951867T>ACA402321613SETBP1c.2527T>A (p.Cys843Ser)
c.2605T>A (p.Cys869Ser)
c.2050T>A (p.Cys684Ser)

Number of alleles fetched