Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.44950463G>ACA402317836SETBP1c.1123G>A (p.Asp375Asn)
c.1201G>A (p.Asp401Asn)
c.646G>A (p.Asp216Asn)
18g.44950463G>CCA402317838SETBP1c.1123G>C (p.Asp375His)
c.1201G>C (p.Asp401His)
c.646G>C (p.Asp216His)
18g.44950463G>TCA402317839SETBP1c.1123G>T (p.Asp375Tyr)
c.1201G>T (p.Asp401Tyr)
c.646G>T (p.Asp216Tyr)
18g.44950464A=CA2300140387SETBP1c.1124A= (p.Asp375=)
c.1202A= (p.Asp401=)
c.647A= (p.Asp216=)
18g.44950464A>CCA402317843SETBP1c.1124A>C (p.Asp375Ala)
c.1202A>C (p.Asp401Ala)
c.647A>C (p.Asp216Ala)
18g.44950464A>GCA402317842SETBP1c.1124A>G (p.Asp375Gly)
c.1202A>G (p.Asp401Gly)
c.647A>G (p.Asp216Gly)
 dbSNP gnomAD v4
18g.44950464A>TCA402317841SETBP1c.1124A>T (p.Asp375Val)
c.1202A>T (p.Asp401Val)
c.647A>T (p.Asp216Val)
18g.44950465T>ACA402317844SETBP1c.1125T>A (p.Asp375Glu)
c.1203T>A (p.Asp401Glu)
c.648T>A (p.Asp216Glu)
18g.44950465T>CCA503981390SETBP1c.1125T>C (p.Asp375=)
c.1203T>C (p.Asp401=)
c.648T>C (p.Asp216=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.44950465T>GCA402317846SETBP1c.1125T>G (p.Asp375Glu)
c.1203T>G (p.Asp401Glu)
c.648T>G (p.Asp216Glu)
18g.44950465T=CA2300140388SETBP1c.1125T= (p.Asp375=)
c.1203T= (p.Asp401=)
c.648T= (p.Asp216=)
18g.44950466A>CCA402317847SETBP1c.1126A>C (p.Ser376Arg)
c.1204A>C (p.Ser402Arg)
c.649A>C (p.Ser217Arg)
18g.44950466A>GCA402317848SETBP1c.1126A>G (p.Ser376Gly)
c.1204A>G (p.Ser402Gly)
c.649A>G (p.Ser217Gly)
18g.44950466A>TCA402317850SETBP1c.1126A>T (p.Ser376Cys)
c.1204A>T (p.Ser402Cys)
c.649A>T (p.Ser217Cys)
18g.44950467G>ACA402317852SETBP1c.1127G>A (p.Ser376Asn)
c.1205G>A (p.Ser402Asn)
c.650G>A (p.Ser217Asn)
18g.44950467G>CCA402317853SETBP1c.1127G>C (p.Ser376Thr)
c.1205G>C (p.Ser402Thr)
c.650G>C (p.Ser217Thr)
18g.44950467G>TCA402317855SETBP1c.1127G>T (p.Ser376Ile)
c.1205G>T (p.Ser402Ile)
c.650G>T (p.Ser217Ile)
 COSMIC
18g.44950468T>ACA402317856SETBP1c.1128T>A (p.Ser376Arg)
c.1206T>A (p.Ser402Arg)
c.651T>A (p.Ser217Arg)
18g.44950468T>CCA503981391SETBP1c.1128T>C (p.Ser376=)
c.1206T>C (p.Ser402=)
c.651T>C (p.Ser217=)
 ClinVar gnomAD v4
18g.44950468T>GCA402317857SETBP1c.1128T>G (p.Ser376Arg)
c.1206T>G (p.Ser402Arg)
c.651T>G (p.Ser217Arg)
18g.44950469G>ACA402317858SETBP1c.1129G>A (p.Ala377Thr)
c.1207G>A (p.Ala403Thr)
c.652G>A (p.Ala218Thr)
 gnomAD v4
18g.44950469G>CCA402317859SETBP1c.1129G>C (p.Ala377Pro)
c.1207G>C (p.Ala403Pro)
c.652G>C (p.Ala218Pro)
18g.44950469G>TCA402317860SETBP1c.1129G>T (p.Ala377Ser)
c.1207G>T (p.Ala403Ser)
c.652G>T (p.Ala218Ser)
18g.44950470C>ACA402317864SETBP1c.1130C>A (p.Ala377Asp)
c.1208C>A (p.Ala403Asp)
c.653C>A (p.Ala218Asp)
18g.44950470C>GCA402317865SETBP1c.1130C>G (p.Ala377Gly)
c.1208C>G (p.Ala403Gly)
c.653C>G (p.Ala218Gly)
18g.44950470C>TCA402317862SETBP1c.1130C>T (p.Ala377Val)
c.1208C>T (p.Ala403Val)
c.653C>T (p.Ala218Val)
18g.44950471C>ACA299696927SETBP1c.1131C>A (p.Ala377=)
c.1209C>A (p.Ala403=)
c.654C>A (p.Ala218=)
 dbSNP
18g.44950471C=CA2300140389SETBP1c.1131C= (p.Ala377=)
c.1209C= (p.Ala403=)
c.654C= (p.Ala218=)
18g.44950471C>GCA503981392SETBP1c.1131C>G (p.Ala377=)
c.1209C>G (p.Ala403=)
c.654C>G (p.Ala218=)
18g.44950471C>TCA503981393SETBP1c.1131C>T (p.Ala377=)
c.1209C>T (p.Ala403=)
c.654C>T (p.Ala218=)
18g.44950472C>ACA402317867SETBP1c.1132C>A (p.Gln378Lys)
c.1210C>A (p.Gln404Lys)
c.655C>A (p.Gln219Lys)
18g.44950472C>GCA402317869SETBP1c.1132C>G (p.Gln378Glu)
c.1210C>G (p.Gln404Glu)
c.655C>G (p.Gln219Glu)
 gnomAD v4
18g.44950472C>TCA402317870SETBP1c.1132C>T (p.Gln378Ter)
c.1210C>T (p.Gln404Ter)
c.655C>T (p.Gln219Ter)
18g.44950473A=CA2300140390SETBP1c.1133A= (p.Gln378=)
c.1211A= (p.Gln404=)
c.656A= (p.Gln219=)
18g.44950473A>CCA402317871SETBP1c.1133A>C (p.Gln378Pro)
c.1211A>C (p.Gln404Pro)
c.656A>C (p.Gln219Pro)
18g.44950473A>GCA8945560SETBP1c.1133A>G (p.Gln378Arg)
c.1211A>G (p.Gln404Arg)
c.656A>G (p.Gln219Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44950473A>TCA402317872SETBP1c.1133A>T (p.Gln378Leu)
c.1211A>T (p.Gln404Leu)
c.656A>T (p.Gln219Leu)
18g.44950474A>CCA402317873SETBP1c.1134A>C (p.Gln378His)
c.1212A>C (p.Gln404His)
c.657A>C (p.Gln219His)
 COSMIC
18g.44950474A>GCA503981394SETBP1c.1134A>G (p.Gln378=)
c.1212A>G (p.Gln404=)
c.657A>G (p.Gln219=)
18g.44950474A>TCA402317874SETBP1c.1134A>T (p.Gln378His)
c.1212A>T (p.Gln404His)
c.657A>T (p.Gln219His)
18g.44950475G>ACA402317875SETBP1c.1135G>A (p.Glu379Lys)
c.1213G>A (p.Glu405Lys)
c.658G>A (p.Glu220Lys)
18g.44950475G>CCA402317876SETBP1c.1135G>C (p.Glu379Gln)
c.1213G>C (p.Glu405Gln)
c.658G>C (p.Glu220Gln)
18g.44950475G>TCA402317877SETBP1c.1135G>T (p.Glu379Ter)
c.1213G>T (p.Glu405Ter)
c.658G>T (p.Glu220Ter)
18g.44950476A=CA2300140391SETBP1c.1136A= (p.Glu379=)
c.1214A= (p.Glu405=)
c.659A= (p.Glu220=)
18g.44950476A>CCA402317880SETBP1c.1136A>C (p.Glu379Ala)
c.1214A>C (p.Glu405Ala)
c.659A>C (p.Glu220Ala)
18g.44950476A>GCA402317879SETBP1c.1136A>G (p.Glu379Gly)
c.1214A>G (p.Glu405Gly)
c.659A>G (p.Glu220Gly)
 dbSNP gnomAD v2 gnomAD v4
18g.44950476A>TCA402317878SETBP1c.1136A>T (p.Glu379Val)
c.1214A>T (p.Glu405Val)
c.659A>T (p.Glu220Val)
18g.44950477G>ACA8945561SETBP1c.1137G>A (p.Glu379=)
c.1215G>A (p.Glu405=)
c.660G>A (p.Glu220=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.44950477G>CCA402317881SETBP1c.1137G>C (p.Glu379Asp)
c.1215G>C (p.Glu405Asp)
c.660G>C (p.Glu220Asp)
18g.44950477G=CA2300140392SETBP1c.1137G= (p.Glu379=)
c.1215G= (p.Glu405=)
c.660G= (p.Glu220=)

Number of alleles fetched