Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.199348709G>ACA16604085SATB2c.811C>T (p.Arg271Cys)
c.1165C>T (p.Arg389Cys)
c.347-76037C>T (n.347-76037C>T)
c.819C>T
c.988C>T (p.Arg330Cys)
n.804C>T
c.991C>T (p.Arg331Cys)
c.742C>T (p.Arg248Cys)
 ClinVar dbSNP COSMIC
2g.199348709G>CCA350387029SATB2c.811C>G (p.Arg271Gly)
c.1165C>G (p.Arg389Gly)
c.347-76037C>G (n.347-76037C>G)
c.819C>G
c.988C>G (p.Arg330Gly)
n.804C>G
c.991C>G (p.Arg331Gly)
c.742C>G (p.Arg248Gly)
2g.199348709G=CA1320151627SATB2c.811C= (p.Arg271=)
c.1165C= (p.Arg389=)
c.347-76037C= (n.347-76037C=)
c.819C=
c.988C= (p.Arg330=)
n.804C=
c.991C= (p.Arg331=)
c.742C= (p.Arg248=)
2g.199348709G>TCA350387028SATB2c.811C>A (p.Arg271Ser)
c.1165C>A (p.Arg389Ser)
c.347-76037C>A (n.347-76037C>A)
c.819C>A
c.988C>A (p.Arg330Ser)
n.804C>A
c.991C>A (p.Arg331Ser)
c.742C>A (p.Arg248Ser)
2g.199348710G>ACA430835062SATB2c.810C>T (p.Asn270=)
c.1164C>T (p.Asn388=)
c.347-76038C>T (n.347-76038C>T)
c.818C>T
c.987C>T (p.Asn329=)
n.803C>T
c.990C>T (p.Asn330=)
c.741C>T (p.Asn247=)
2g.199348710G>CCA350387030SATB2c.810C>G (p.Asn270Lys)
c.1164C>G (p.Asn388Lys)
c.347-76038C>G (n.347-76038C>G)
c.818C>G
c.987C>G (p.Asn329Lys)
n.803C>G
c.990C>G (p.Asn330Lys)
c.741C>G (p.Asn247Lys)
2g.199348710G>TCA350387031SATB2c.810C>A (p.Asn270Lys)
c.1164C>A (p.Asn388Lys)
c.347-76038C>A (n.347-76038C>A)
c.818C>A
c.987C>A (p.Asn329Lys)
n.803C>A
c.990C>A (p.Asn330Lys)
c.741C>A (p.Asn247Lys)
2g.199348711T>ACA350387032SATB2c.809A>T (p.Asn270Ile)
c.1163A>T (p.Asn388Ile)
c.347-76039A>T (n.347-76039A>T)
c.817A>T
c.986A>T (p.Asn329Ile)
n.802A>T
c.989A>T (p.Asn330Ile)
c.740A>T (p.Asn247Ile)
2g.199348711T>CCA350387033SATB2c.809A>G (p.Asn270Ser)
c.1163A>G (p.Asn388Ser)
c.347-76039A>G (n.347-76039A>G)
c.817A>G
c.986A>G (p.Asn329Ser)
n.802A>G
c.989A>G (p.Asn330Ser)
c.740A>G (p.Asn247Ser)
 gnomAD v4
2g.199348711T>GCA350387034SATB2c.809A>C (p.Asn270Thr)
c.1163A>C (p.Asn388Thr)
c.347-76039A>C (n.347-76039A>C)
c.817A>C
c.986A>C (p.Asn329Thr)
n.802A>C
c.989A>C (p.Asn330Thr)
c.740A>C (p.Asn247Thr)
2g.199348712T>ACA350387035SATB2c.808A>T (p.Asn270Tyr)
c.1162A>T (p.Asn388Tyr)
c.347-76040A>T (n.347-76040A>T)
c.816A>T
c.985A>T (p.Asn329Tyr)
n.801A>T
c.988A>T (p.Asn330Tyr)
c.739A>T (p.Asn247Tyr)
2g.199348712T>CCA350387036SATB2c.808A>G (p.Asn270Asp)
c.1162A>G (p.Asn388Asp)
c.347-76040A>G (n.347-76040A>G)
c.816A>G
c.985A>G (p.Asn329Asp)
n.801A>G
c.988A>G (p.Asn330Asp)
c.739A>G (p.Asn247Asp)
2g.199348712T>GCA350387037SATB2c.808A>C (p.Asn270His)
c.1162A>C (p.Asn388His)
c.347-76040A>C (n.347-76040A>C)
c.816A>C
c.985A>C (p.Asn329His)
n.801A>C
c.988A>C (p.Asn330His)
c.739A>C (p.Asn247His)
2g.199348713G>ACA430835064SATB2c.807C>T (p.Phe269=)
c.1161C>T (p.Phe387=)
c.347-76041C>T (n.347-76041C>T)
c.815C>T
c.984C>T (p.Phe328=)
n.800C>T
c.987C>T (p.Phe329=)
c.738C>T (p.Phe246=)
2g.199348713G>CCA350387038SATB2c.807C>G (p.Phe269Leu)
c.1161C>G (p.Phe387Leu)
c.347-76041C>G (n.347-76041C>G)
c.815C>G
c.984C>G (p.Phe328Leu)
n.800C>G
c.987C>G (p.Phe329Leu)
c.738C>G (p.Phe246Leu)
2g.199348713G>TCA350387039SATB2c.807C>A (p.Phe269Leu)
c.1161C>A (p.Phe387Leu)
c.347-76041C>A (n.347-76041C>A)
c.815C>A
c.984C>A (p.Phe328Leu)
n.800C>A
c.987C>A (p.Phe329Leu)
c.738C>A (p.Phe246Leu)
 gnomAD v4
2g.199348714A>CCA350387040SATB2c.806T>G (p.Phe269Cys)
c.1160T>G (p.Phe387Cys)
c.347-76042T>G (n.347-76042T>G)
c.814T>G
c.983T>G (p.Phe328Cys)
n.799T>G
c.986T>G (p.Phe329Cys)
c.737T>G (p.Phe246Cys)
2g.199348714A>GCA350387041SATB2c.806T>C (p.Phe269Ser)
c.1160T>C (p.Phe387Ser)
c.347-76042T>C (n.347-76042T>C)
c.814T>C
c.983T>C (p.Phe328Ser)
n.799T>C
c.986T>C (p.Phe329Ser)
c.737T>C (p.Phe246Ser)
2g.199348714A>TCA350387042SATB2c.806T>A (p.Phe269Tyr)
c.1160T>A (p.Phe387Tyr)
c.347-76042T>A (n.347-76042T>A)
c.814T>A
c.983T>A (p.Phe328Tyr)
n.799T>A
c.986T>A (p.Phe329Tyr)
c.737T>A (p.Phe246Tyr)
2g.199348715A>CCA350387045SATB2c.805T>G (p.Phe269Val)
c.1159T>G (p.Phe387Val)
c.347-76043T>G (n.347-76043T>G)
c.813T>G
c.982T>G (p.Phe328Val)
n.798T>G
c.985T>G (p.Phe329Val)
c.736T>G (p.Phe246Val)
2g.199348715A>GCA350387044SATB2c.805T>C (p.Phe269Leu)
c.1159T>C (p.Phe387Leu)
c.347-76043T>C (n.347-76043T>C)
c.813T>C
c.982T>C (p.Phe328Leu)
n.798T>C
c.985T>C (p.Phe329Leu)
c.736T>C (p.Phe246Leu)
2g.199348715A>TCA350387043SATB2c.805T>A (p.Phe269Ile)
c.1159T>A (p.Phe387Ile)
c.347-76043T>A (n.347-76043T>A)
c.813T>A
c.982T>A (p.Phe328Ile)
n.798T>A
c.985T>A (p.Phe329Ile)
c.736T>A (p.Phe246Ile)
2g.199348716T>ACA430835065SATB2c.804A>T (p.Ala268=)
c.1158A>T (p.Ala386=)
c.347-76044A>T (n.347-76044A>T)
c.812A>T
c.981A>T (p.Ala327=)
n.797A>T
c.984A>T (p.Ala328=)
c.735A>T (p.Ala245=)
2g.199348716T>CCA430835067SATB2c.804A>G (p.Ala268=)
c.1158A>G (p.Ala386=)
c.347-76044A>G (n.347-76044A>G)
c.812A>G
c.981A>G (p.Ala327=)
n.797A>G
c.984A>G (p.Ala328=)
c.735A>G (p.Ala245=)
 COSMIC
2g.199348716T>GCA430835066SATB2c.804A>C (p.Ala268=)
c.1158A>C (p.Ala386=)
c.347-76044A>C (n.347-76044A>C)
c.812A>C
c.981A>C (p.Ala327=)
n.797A>C
c.984A>C (p.Ala328=)
c.735A>C (p.Ala245=)
2g.199348717G>ACA350387046SATB2c.803C>T (p.Ala268Val)
c.1157C>T (p.Ala386Val)
c.347-76045C>T (n.347-76045C>T)
c.811C>T
c.980C>T (p.Ala327Val)
n.796C>T
c.983C>T (p.Ala328Val)
c.734C>T (p.Ala245Val)
2g.199348717G>CCA350387047SATB2c.803C>G (p.Ala268Gly)
c.1157C>G (p.Ala386Gly)
c.347-76045C>G (n.347-76045C>G)
c.811C>G
c.980C>G (p.Ala327Gly)
n.796C>G
c.983C>G (p.Ala328Gly)
c.734C>G (p.Ala245Gly)
2g.199348717G>TCA350387048SATB2c.803C>A (p.Ala268Glu)
c.1157C>A (p.Ala386Glu)
c.347-76045C>A (n.347-76045C>A)
c.811C>A
c.980C>A (p.Ala327Glu)
n.796C>A
c.983C>A (p.Ala328Glu)
c.734C>A (p.Ala245Glu)
 gnomAD v3 gnomAD v4 COSMIC
2g.199348718C>ACA350387049SATB2c.802G>T (p.Ala268Ser)
c.1156G>T (p.Ala386Ser)
c.347-76046G>T (n.347-76046G>T)
c.810G>T
c.979G>T (p.Ala327Ser)
n.795G>T
c.982G>T (p.Ala328Ser)
c.733G>T (p.Ala245Ser)
 dbSNP gnomAD v4
2g.199348718C=CA1320151628SATB2c.802G= (p.Ala268=)
c.1156G= (p.Ala386=)
c.347-76046G= (n.347-76046G=)
c.810G=
c.979G= (p.Ala327=)
n.795G=
c.982G= (p.Ala328=)
c.733G= (p.Ala245=)
2g.199348718C>GCA350387050SATB2c.802G>C (p.Ala268Pro)
c.1156G>C (p.Ala386Pro)
c.347-76046G>C (n.347-76046G>C)
c.810G>C
c.979G>C (p.Ala327Pro)
n.795G>C
c.982G>C (p.Ala328Pro)
c.733G>C (p.Ala245Pro)
2g.199348718C>TCA350387051SATB2c.802G>A (p.Ala268Thr)
c.1156G>A (p.Ala386Thr)
c.347-76046G>A (n.347-76046G>A)
c.810G>A
c.979G>A (p.Ala327Thr)
n.795G>A
c.982G>A (p.Ala328Thr)
c.733G>A (p.Ala245Thr)
2g.199348719C>ACA430835069SATB2c.801G>T (p.Val267=)
c.1155G>T (p.Val385=)
c.347-76047G>T (n.347-76047G>T)
c.809G>T
c.978G>T (p.Val326=)
n.794G>T
c.981G>T (p.Val327=)
c.732G>T (p.Val244=)
2g.199348719C=CA1320151629SATB2c.801G= (p.Val267=)
c.1155G= (p.Val385=)
c.347-76047G= (n.347-76047G=)
c.809G=
c.978G= (p.Val326=)
n.794G=
c.981G= (p.Val327=)
c.732G= (p.Val244=)
2g.199348719C>GCA430835070SATB2c.801G>C (p.Val267=)
c.1155G>C (p.Val385=)
c.347-76047G>C (n.347-76047G>C)
c.809G>C
c.978G>C (p.Val326=)
n.794G>C
c.981G>C (p.Val327=)
c.732G>C (p.Val244=)
2g.199348719C>TCA2045968SATB2c.801G>A (p.Val267=)
c.1155G>A (p.Val385=)
c.347-76047G>A (n.347-76047G>A)
c.809G>A
c.978G>A (p.Val326=)
n.794G>A
c.981G>A (p.Val327=)
c.732G>A (p.Val244=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.199348720A>CCA350387052SATB2c.800T>G (p.Val267Gly)
c.1154T>G (p.Val385Gly)
c.347-76048T>G (n.347-76048T>G)
c.808T>G
c.977T>G (p.Val326Gly)
n.793T>G
c.980T>G (p.Val327Gly)
c.731T>G (p.Val244Gly)
2g.199348720A>GCA350387053SATB2c.800T>C (p.Val267Ala)
c.1154T>C (p.Val385Ala)
c.347-76048T>C (n.347-76048T>C)
c.808T>C
c.977T>C (p.Val326Ala)
n.793T>C
c.980T>C (p.Val327Ala)
c.731T>C (p.Val244Ala)
2g.199348720A>TCA350387054SATB2c.800T>A (p.Val267Glu)
c.1154T>A (p.Val385Glu)
c.347-76048T>A (n.347-76048T>A)
c.808T>A
c.977T>A (p.Val326Glu)
n.793T>A
c.980T>A (p.Val327Glu)
c.731T>A (p.Val244Glu)
2g.199348721delCA2573051829SATB2c.799del (p.Val267TrpfsTer28)
c.1153del (p.Val385TrpfsTer28)
c.347-76049del (n.347-76049del)
c.807del
c.976del (p.Val326TrpfsTer28)
n.792del
c.979del (p.Val327TrpfsTer28)
c.730del (p.Val244TrpfsTer28)
 ClinVar dbSNP
2g.199348721C>ACA350387055SATB2c.799G>T (p.Val267Leu)
c.1153G>T (p.Val385Leu)
c.347-76049G>T (n.347-76049G>T)
c.807G>T
c.976G>T (p.Val326Leu)
n.792G>T
c.979G>T (p.Val327Leu)
c.730G>T (p.Val244Leu)
 gnomAD v4
2g.199348721C>GCA350387056SATB2c.799G>C (p.Val267Leu)
c.1153G>C (p.Val385Leu)
c.347-76049G>C (n.347-76049G>C)
c.807G>C
c.976G>C (p.Val326Leu)
n.792G>C
c.979G>C (p.Val327Leu)
c.730G>C (p.Val244Leu)
2g.199348721C>TCA350387057SATB2c.799G>A (p.Val267Met)
c.1153G>A (p.Val385Met)
c.347-76049G>A (n.347-76049G>A)
c.807G>A
c.976G>A (p.Val326Met)
n.792G>A
c.979G>A (p.Val327Met)
c.730G>A (p.Val244Met)
2g.199348722T>ACA350387059SATB2c.798A>T (p.Arg266Ser)
c.1152A>T (p.Arg384Ser)
c.347-76050A>T (n.347-76050A>T)
c.806A>T
c.975A>T (p.Arg325Ser)
n.791A>T
c.978A>T (p.Arg326Ser)
c.729A>T (p.Arg243Ser)
2g.199348722T>CCA430835072SATB2c.798A>G (p.Arg266=)
c.1152A>G (p.Arg384=)
c.347-76050A>G (n.347-76050A>G)
c.806A>G
c.975A>G (p.Arg325=)
n.791A>G
c.978A>G (p.Arg326=)
c.729A>G (p.Arg243=)
2g.199348722T>GCA350387058SATB2c.798A>C (p.Arg266Ser)
c.1152A>C (p.Arg384Ser)
c.347-76050A>C (n.347-76050A>C)
c.806A>C
c.975A>C (p.Arg325Ser)
n.791A>C
c.978A>C (p.Arg326Ser)
c.729A>C (p.Arg243Ser)
2g.199348723C>ACA350387060SATB2c.797G>T (p.Arg266Ile)
c.1151G>T (p.Arg384Ile)
c.347-76051G>T (n.347-76051G>T)
c.805G>T
c.974G>T (p.Arg325Ile)
n.790G>T
c.977G>T (p.Arg326Ile)
c.728G>T (p.Arg243Ile)
2g.199348723C>GCA350387061SATB2c.797G>C (p.Arg266Thr)
c.1151G>C (p.Arg384Thr)
c.347-76051G>C (n.347-76051G>C)
c.805G>C
c.974G>C (p.Arg325Thr)
n.790G>C
c.977G>C (p.Arg326Thr)
c.728G>C (p.Arg243Thr)
2g.199348723C>TCA350387062SATB2c.797G>A (p.Arg266Lys)
c.1151G>A (p.Arg384Lys)
c.347-76051G>A (n.347-76051G>A)
c.805G>A
c.974G>A (p.Arg325Lys)
n.790G>A
c.977G>A (p.Arg326Lys)
c.728G>A (p.Arg243Lys)
2g.199348724T>ACA350387063SATB2c.796A>T (p.Arg266Ter)
c.1150A>T (p.Arg384Ter)
c.347-76052A>T (n.347-76052A>T)
c.804A>T
c.973A>T (p.Arg325Ter)
n.789A>T
c.976A>T (p.Arg326Ter)
c.727A>T (p.Arg243Ter)

Number of alleles fetched