Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.199348916G>A | CA350387757 | SATB2 | c.604C>T (p.Gln202Ter) c.958C>T (p.Gln320Ter) c.347-76244C>T (n.347-76244C>T) c.612C>T c.781C>T (p.Gln261Ter) n.597C>T c.784C>T (p.Gln262Ter) c.535C>T (p.Gln179Ter) | |
2 | g.199348916G>C | CA350387756 | SATB2 | c.604C>G (p.Gln202Glu) c.958C>G (p.Gln320Glu) c.347-76244C>G (n.347-76244C>G) c.612C>G c.781C>G (p.Gln261Glu) n.597C>G c.784C>G (p.Gln262Glu) c.535C>G (p.Gln179Glu) | |
2 | g.199348916G>T | CA350387755 | SATB2 | c.604C>A (p.Gln202Lys) c.958C>A (p.Gln320Lys) c.347-76244C>A (n.347-76244C>A) c.612C>A c.781C>A (p.Gln261Lys) n.597C>A c.784C>A (p.Gln262Lys) c.535C>A (p.Gln179Lys) | |
2 | g.199348917T>A | CA350387759 | SATB2 | c.603A>T (p.Gln201His) c.957A>T (p.Gln319His) c.347-76245A>T (n.347-76245A>T) c.611A>T c.780A>T (p.Gln260His) n.596A>T c.783A>T (p.Gln261His) c.534A>T (p.Gln178His) | |
2 | g.199348917T>C | CA430835277 | SATB2 | c.603A>G (p.Gln201=) c.957A>G (p.Gln319=) c.347-76245A>G (n.347-76245A>G) c.611A>G c.780A>G (p.Gln260=) n.596A>G c.783A>G (p.Gln261=) c.534A>G (p.Gln178=) | gnomAD v4 |
2 | g.199348917T>G | CA350387758 | SATB2 | c.603A>C (p.Gln201His) c.957A>C (p.Gln319His) c.347-76245A>C (n.347-76245A>C) c.611A>C c.780A>C (p.Gln260His) n.596A>C c.783A>C (p.Gln261His) c.534A>C (p.Gln178His) | |
2 | g.199348918T>A | CA350387760 | SATB2 | c.602A>T (p.Gln201Leu) c.956A>T (p.Gln319Leu) c.347-76246A>T (n.347-76246A>T) c.610A>T c.779A>T (p.Gln260Leu) n.595A>T c.782A>T (p.Gln261Leu) c.533A>T (p.Gln178Leu) | |
2 | g.199348918T>C | CA350387761 | SATB2 | c.602A>G (p.Gln201Arg) c.956A>G (p.Gln319Arg) c.347-76246A>G (n.347-76246A>G) c.610A>G c.779A>G (p.Gln260Arg) n.595A>G c.782A>G (p.Gln261Arg) c.533A>G (p.Gln178Arg) | |
2 | g.199348918T>G | CA350387762 | SATB2 | c.602A>C (p.Gln201Pro) c.956A>C (p.Gln319Pro) c.347-76246A>C (n.347-76246A>C) c.610A>C c.779A>C (p.Gln260Pro) n.595A>C c.782A>C (p.Gln261Pro) c.533A>C (p.Gln178Pro) | |
2 | g.199348919G>A | CA350387763 | SATB2 | c.601C>T (p.Gln201Ter) c.955C>T (p.Gln319Ter) c.347-76247C>T (n.347-76247C>T) c.609C>T c.778C>T (p.Gln260Ter) n.594C>T c.781C>T (p.Gln261Ter) c.532C>T (p.Gln178Ter) | ClinVar |
2 | g.199348919G>C | CA350387764 | SATB2 | c.601C>G (p.Gln201Glu) c.955C>G (p.Gln319Glu) c.347-76247C>G (n.347-76247C>G) c.609C>G c.778C>G (p.Gln260Glu) n.594C>G c.781C>G (p.Gln261Glu) c.532C>G (p.Gln178Glu) | |
2 | g.199348919G>T | CA350387765 | SATB2 | c.601C>A (p.Gln201Lys) c.955C>A (p.Gln319Lys) c.347-76247C>A (n.347-76247C>A) c.609C>A c.778C>A (p.Gln260Lys) n.594C>A c.781C>A (p.Gln261Lys) c.532C>A (p.Gln178Lys) | |
2 | g.199348920del | CA2662538444 | SATB2 | c.601del (p.Gln201AsnfsTer22) c.955del (p.Gln319AsnfsTer22) c.347-76247del (n.347-76247del) c.609del c.778del (p.Gln260AsnfsTer22) n.594del c.781del (p.Gln261AsnfsTer22) c.532del (p.Gln178AsnfsTer22) | gnomAD v4 |
2 | g.199348920G>A | CA430835278 | SATB2 | c.600C>T (p.Asn200=) c.954C>T (p.Asn318=) c.347-76248C>T (n.347-76248C>T) c.608C>T c.777C>T (p.Asn259=) n.593C>T c.780C>T (p.Asn260=) c.531C>T (p.Asn177=) | gnomAD v4 |
2 | g.199348920G>C | CA350387766 | SATB2 | c.600C>G (p.Asn200Lys) c.954C>G (p.Asn318Lys) c.347-76248C>G (n.347-76248C>G) c.608C>G c.777C>G (p.Asn259Lys) n.593C>G c.780C>G (p.Asn260Lys) c.531C>G (p.Asn177Lys) | |
2 | g.199348920G>T | CA350387767 | SATB2 | c.600C>A (p.Asn200Lys) c.954C>A (p.Asn318Lys) c.347-76248C>A (n.347-76248C>A) c.608C>A c.777C>A (p.Asn259Lys) n.593C>A c.780C>A (p.Asn260Lys) c.531C>A (p.Asn177Lys) | |
2 | g.199348921T>A | CA350387768 | SATB2 | c.599A>T (p.Asn200Ile) c.953A>T (p.Asn318Ile) c.347-76249A>T (n.347-76249A>T) c.607A>T c.776A>T (p.Asn259Ile) n.592A>T c.779A>T (p.Asn260Ile) c.530A>T (p.Asn177Ile) | |
2 | g.199348921T>C | CA350387769 | SATB2 | c.599A>G (p.Asn200Ser) c.953A>G (p.Asn318Ser) c.347-76249A>G (n.347-76249A>G) c.607A>G c.776A>G (p.Asn259Ser) n.592A>G c.779A>G (p.Asn260Ser) c.530A>G (p.Asn177Ser) | |
2 | g.199348921T>G | CA350387770 | SATB2 | c.599A>C (p.Asn200Thr) c.953A>C (p.Asn318Thr) c.347-76249A>C (n.347-76249A>C) c.607A>C c.776A>C (p.Asn259Thr) n.592A>C c.779A>C (p.Asn260Thr) c.530A>C (p.Asn177Thr) | |
2 | g.199348922T>A | CA350387772 | SATB2 | c.598A>T (p.Asn200Tyr) c.952A>T (p.Asn318Tyr) c.347-76250A>T (n.347-76250A>T) c.606A>T c.775A>T (p.Asn259Tyr) n.591A>T c.778A>T (p.Asn260Tyr) c.529A>T (p.Asn177Tyr) | |
2 | g.199348922T>C | CA350387773 | SATB2 | c.598A>G (p.Asn200Asp) c.952A>G (p.Asn318Asp) c.347-76250A>G (n.347-76250A>G) c.606A>G c.775A>G (p.Asn259Asp) n.591A>G c.778A>G (p.Asn260Asp) c.529A>G (p.Asn177Asp) | |
2 | g.199348922T>G | CA350387771 | SATB2 | c.598A>C (p.Asn200His) c.952A>C (p.Asn318His) c.347-76250A>C (n.347-76250A>C) c.606A>C c.775A>C (p.Asn259His) n.591A>C c.778A>C (p.Asn260His) c.529A>C (p.Asn177His) | |
2 | g.199348923T>A | CA430835282 | SATB2 | c.597A>T (p.Ile199=) c.951A>T (p.Ile317=) c.347-76251A>T (n.347-76251A>T) c.605A>T c.774A>T (p.Ile258=) n.590A>T c.777A>T (p.Ile259=) c.528A>T (p.Ile176=) | |
2 | g.199348923T>C | CA350387774 | SATB2 | c.597A>G (p.Ile199Met) c.951A>G (p.Ile317Met) c.347-76251A>G (n.347-76251A>G) c.605A>G c.774A>G (p.Ile258Met) n.590A>G c.777A>G (p.Ile259Met) c.528A>G (p.Ile176Met) | |
2 | g.199348923T>G | CA430835283 | SATB2 | c.597A>C (p.Ile199=) c.951A>C (p.Ile317=) c.347-76251A>C (n.347-76251A>C) c.605A>C c.774A>C (p.Ile258=) n.590A>C c.777A>C (p.Ile259=) c.528A>C (p.Ile176=) | |
2 | g.199348924A>C | CA350387775 | SATB2 | c.596T>G (p.Ile199Arg) c.950T>G (p.Ile317Arg) c.347-76252T>G (n.347-76252T>G) c.604T>G c.773T>G (p.Ile258Arg) n.589T>G c.776T>G (p.Ile259Arg) c.527T>G (p.Ile176Arg) | |
2 | g.199348924A>G | CA350387776 | SATB2 | c.596T>C (p.Ile199Thr) c.950T>C (p.Ile317Thr) c.347-76252T>C (n.347-76252T>C) c.604T>C c.773T>C (p.Ile258Thr) n.589T>C c.776T>C (p.Ile259Thr) c.527T>C (p.Ile176Thr) | |
2 | g.199348924A>T | CA350387777 | SATB2 | c.596T>A (p.Ile199Lys) c.950T>A (p.Ile317Lys) c.347-76252T>A (n.347-76252T>A) c.604T>A c.773T>A (p.Ile258Lys) n.589T>A c.776T>A (p.Ile259Lys) c.527T>A (p.Ile176Lys) | |
2 | g.199348925T>A | CA350387780 | SATB2 | c.595A>T (p.Ile199Leu) c.949A>T (p.Ile317Leu) c.347-76253A>T (n.347-76253A>T) c.603A>T c.772A>T (p.Ile258Leu) n.588A>T c.775A>T (p.Ile259Leu) c.526A>T (p.Ile176Leu) | |
2 | g.199348925T>C | CA350387779 | SATB2 | c.595A>G (p.Ile199Val) c.949A>G (p.Ile317Val) c.347-76253A>G (n.347-76253A>G) c.603A>G c.772A>G (p.Ile258Val) n.588A>G c.775A>G (p.Ile259Val) c.526A>G (p.Ile176Val) | |
2 | g.199348925T>G | CA350387778 | SATB2 | c.595A>C (p.Ile199Leu) c.949A>C (p.Ile317Leu) c.347-76253A>C (n.347-76253A>C) c.603A>C c.772A>C (p.Ile258Leu) n.588A>C c.775A>C (p.Ile259Leu) c.526A>C (p.Ile176Leu) | |
2 | g.199348926C>A | CA430835289 | SATB2 | c.594G>T (p.Leu198=) c.948G>T (p.Leu316=) c.347-76254G>T (n.347-76254G>T) c.602G>T c.771G>T (p.Leu257=) n.587G>T c.774G>T (p.Leu258=) c.525G>T (p.Leu175=) | |
2 | g.199348926C>G | CA430835286 | SATB2 | c.594G>C (p.Leu198=) c.948G>C (p.Leu316=) c.347-76254G>C (n.347-76254G>C) c.602G>C c.771G>C (p.Leu257=) n.587G>C c.774G>C (p.Leu258=) c.525G>C (p.Leu175=) | |
2 | g.199348926C>T | CA430835288 | SATB2 | c.594G>A (p.Leu198=) c.948G>A (p.Leu316=) c.347-76254G>A (n.347-76254G>A) c.602G>A c.771G>A (p.Leu257=) n.587G>A c.774G>A (p.Leu258=) c.525G>A (p.Leu175=) | gnomAD v4 |
2 | g.199348927A>C | CA350387781 | SATB2 | c.593T>G (p.Leu198Arg) c.947T>G (p.Leu316Arg) c.347-76255T>G (n.347-76255T>G) c.601T>G c.770T>G (p.Leu257Arg) n.586T>G c.773T>G (p.Leu258Arg) c.524T>G (p.Leu175Arg) | |
2 | g.199348927A>G | CA350387782 | SATB2 | c.593T>C (p.Leu198Pro) c.947T>C (p.Leu316Pro) c.347-76255T>C (n.347-76255T>C) c.601T>C c.770T>C (p.Leu257Pro) n.586T>C c.773T>C (p.Leu258Pro) c.524T>C (p.Leu175Pro) | |
2 | g.199348927A>T | CA350387783 | SATB2 | c.593T>A (p.Leu198Gln) c.947T>A (p.Leu316Gln) c.347-76255T>A (n.347-76255T>A) c.601T>A c.770T>A (p.Leu257Gln) n.586T>A c.773T>A (p.Leu258Gln) c.524T>A (p.Leu175Gln) | |
2 | g.199348928G>A | CA64251728 | SATB2 | c.592C>T (p.Leu198=) c.946C>T (p.Leu316=) c.347-76256C>T (n.347-76256C>T) c.600C>T c.769C>T (p.Leu257=) n.585C>T c.772C>T (p.Leu258=) c.523C>T (p.Leu175=) | dbSNP gnomAD v4 |
2 | g.199348928G>C | CA350387784 | SATB2 | c.592C>G (p.Leu198Val) c.946C>G (p.Leu316Val) c.347-76256C>G (n.347-76256C>G) c.600C>G c.769C>G (p.Leu257Val) n.585C>G c.772C>G (p.Leu258Val) c.523C>G (p.Leu175Val) | |
2 | g.199348928G= | CA1320151682 | SATB2 | c.592C= (p.Leu198=) c.946C= (p.Leu316=) c.347-76256C= (n.347-76256C=) c.600C= c.769C= (p.Leu257=) n.585C= c.772C= (p.Leu258=) c.523C= (p.Leu175=) | |
2 | g.199348928G>T | CA350387785 | SATB2 | c.592C>A (p.Leu198Met) c.946C>A (p.Leu316Met) c.347-76256C>A (n.347-76256C>A) c.600C>A c.769C>A (p.Leu257Met) n.585C>A c.772C>A (p.Leu258Met) c.523C>A (p.Leu175Met) | |
2 | g.199348929A>C | CA350387786 | SATB2 | c.591T>G (p.His197Gln) c.945T>G (p.His315Gln) c.347-76257T>G (n.347-76257T>G) c.599T>G c.768T>G (p.His256Gln) n.584T>G c.771T>G (p.His257Gln) c.522T>G (p.His174Gln) | |
2 | g.199348929A>G | CA430835290 | SATB2 | c.591T>C (p.His197=) c.945T>C (p.His315=) c.347-76257T>C (n.347-76257T>C) c.599T>C c.768T>C (p.His256=) n.584T>C c.771T>C (p.His257=) c.522T>C (p.His174=) | |
2 | g.199348929A>T | CA350387787 | SATB2 | c.591T>A (p.His197Gln) c.945T>A (p.His315Gln) c.347-76257T>A (n.347-76257T>A) c.599T>A c.768T>A (p.His256Gln) n.584T>A c.771T>A (p.His257Gln) c.522T>A (p.His174Gln) | |
2 | g.199348930T>A | CA350387789 | SATB2 | c.590A>T (p.His197Leu) c.944A>T (p.His315Leu) c.347-76258A>T (n.347-76258A>T) c.598A>T c.767A>T (p.His256Leu) n.583A>T c.770A>T (p.His257Leu) c.521A>T (p.His174Leu) | |
2 | g.199348930T>C | CA350387790 | SATB2 | c.590A>G (p.His197Arg) c.944A>G (p.His315Arg) c.347-76258A>G (n.347-76258A>G) c.598A>G c.767A>G (p.His256Arg) n.583A>G c.770A>G (p.His257Arg) c.521A>G (p.His174Arg) | |
2 | g.199348930T>G | CA350387788 | SATB2 | c.590A>C (p.His197Pro) c.944A>C (p.His315Pro) c.347-76258A>C (n.347-76258A>C) c.598A>C c.767A>C (p.His256Pro) n.583A>C c.770A>C (p.His257Pro) c.521A>C (p.His174Pro) | |
2 | g.199348931G>A | CA350387791 | SATB2 | c.589C>T (p.His197Tyr) c.943C>T (p.His315Tyr) c.347-76259C>T (n.347-76259C>T) c.597C>T c.766C>T (p.His256Tyr) n.582C>T c.769C>T (p.His257Tyr) c.520C>T (p.His174Tyr) | |
2 | g.199348931G>C | CA350387792 | SATB2 | c.589C>G (p.His197Asp) c.943C>G (p.His315Asp) c.347-76259C>G (n.347-76259C>G) c.597C>G c.766C>G (p.His256Asp) n.582C>G c.769C>G (p.His257Asp) c.520C>G (p.His174Asp) | |
2 | g.199348931G>T | CA350387793 | SATB2 | c.589C>A (p.His197Asn) c.943C>A (p.His315Asn) c.347-76259C>A (n.347-76259C>A) c.597C>A c.766C>A (p.His256Asn) n.582C>A c.769C>A (p.His257Asn) c.520C>A (p.His174Asn) | |
2 | g.199348932G>A | CA2045983 | SATB2 | c.588C>T (p.Ala196=) c.942C>T (p.Ala314=) c.347-76260C>T (n.347-76260C>T) c.596C>T c.765C>T (p.Ala255=) n.581C>T c.768C>T (p.Ala256=) c.519C>T (p.Ala173=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.199348932G>C | CA430835293 | SATB2 | c.588C>G (p.Ala196=) c.942C>G (p.Ala314=) c.347-76260C>G (n.347-76260C>G) c.596C>G c.765C>G (p.Ala255=) n.581C>G c.768C>G (p.Ala256=) c.519C>G (p.Ala173=) | ClinVar |
2 | g.199348932G= | CA1320151683 | SATB2 | c.588C= (p.Ala196=) c.942C= (p.Ala314=) c.347-76260C= (n.347-76260C=) c.596C= c.765C= (p.Ala255=) n.581C= c.768C= (p.Ala256=) c.519C= (p.Ala173=) | |
2 | g.199348932G>T | CA430835292 | SATB2 | c.588C>A (p.Ala196=) c.942C>A (p.Ala314=) c.347-76260C>A (n.347-76260C>A) c.596C>A c.765C>A (p.Ala255=) n.581C>A c.768C>A (p.Ala256=) c.519C>A (p.Ala173=) | |
2 | g.199348933G>A | CA350387794 | SATB2 | c.587C>T (p.Ala196Val) c.941C>T (p.Ala314Val) c.347-76261C>T (n.347-76261C>T) c.595C>T c.764C>T (p.Ala255Val) n.580C>T c.767C>T (p.Ala256Val) c.518C>T (p.Ala173Val) | |
2 | g.199348933G>C | CA350387795 | SATB2 | c.587C>G (p.Ala196Gly) c.941C>G (p.Ala314Gly) c.347-76261C>G (n.347-76261C>G) c.595C>G c.764C>G (p.Ala255Gly) n.580C>G c.767C>G (p.Ala256Gly) c.518C>G (p.Ala173Gly) | |
2 | g.199348933G>T | CA350387796 | SATB2 | c.587C>A (p.Ala196Asp) c.941C>A (p.Ala314Asp) c.347-76261C>A (n.347-76261C>A) c.595C>A c.764C>A (p.Ala255Asp) n.580C>A c.767C>A (p.Ala256Asp) c.518C>A (p.Ala173Asp) | |
2 | g.199348934C>A | CA350387797 | SATB2 | c.586G>T (p.Ala196Ser) c.940G>T (p.Ala314Ser) c.347-76262G>T (n.347-76262G>T) c.594G>T c.763G>T (p.Ala255Ser) n.579G>T c.766G>T (p.Ala256Ser) c.517G>T (p.Ala173Ser) | |
2 | g.199348934C>G | CA350387798 | SATB2 | c.586G>C (p.Ala196Pro) c.940G>C (p.Ala314Pro) c.347-76262G>C (n.347-76262G>C) c.594G>C c.763G>C (p.Ala255Pro) n.579G>C c.766G>C (p.Ala256Pro) c.517G>C (p.Ala173Pro) | |
2 | g.199348934C>T | CA350387799 | SATB2 | c.586G>A (p.Ala196Thr) c.940G>A (p.Ala314Thr) c.347-76262G>A (n.347-76262G>A) c.594G>A c.763G>A (p.Ala255Thr) n.579G>A c.766G>A (p.Ala256Thr) c.517G>A (p.Ala173Thr) | COSMIC |
2 | g.199348935C>A | CA350387800 | SATB2 | c.585G>T (p.Met195Ile) c.939G>T (p.Met313Ile) c.347-76263G>T (n.347-76263G>T) c.593G>T c.762G>T (p.Met254Ile) n.578G>T c.765G>T (p.Met255Ile) c.516G>T (p.Met172Ile) | COSMIC |
2 | g.199348935C>G | CA350387801 | SATB2 | c.585G>C (p.Met195Ile) c.939G>C (p.Met313Ile) c.347-76263G>C (n.347-76263G>C) c.593G>C c.762G>C (p.Met254Ile) n.578G>C c.765G>C (p.Met255Ile) c.516G>C (p.Met172Ile) | |
2 | g.199348935C>T | CA350387802 | SATB2 | c.585G>A (p.Met195Ile) c.939G>A (p.Met313Ile) c.347-76263G>A (n.347-76263G>A) c.593G>A c.762G>A (p.Met254Ile) n.578G>A c.765G>A (p.Met255Ile) c.516G>A (p.Met172Ile) | |
2 | g.199348936A>C | CA350387805 | SATB2 | c.584T>G (p.Met195Arg) c.938T>G (p.Met313Arg) c.347-76264T>G (n.347-76264T>G) c.592T>G c.761T>G (p.Met254Arg) n.577T>G c.764T>G (p.Met255Arg) c.515T>G (p.Met172Arg) | |
2 | g.199348936A>G | CA350387804 | SATB2 | c.584T>C (p.Met195Thr) c.938T>C (p.Met313Thr) c.347-76264T>C (n.347-76264T>C) c.592T>C c.761T>C (p.Met254Thr) n.577T>C c.764T>C (p.Met255Thr) c.515T>C (p.Met172Thr) | gnomAD v4 |
2 | g.199348936A>T | CA350387803 | SATB2 | c.584T>A (p.Met195Lys) c.938T>A (p.Met313Lys) c.347-76264T>A (n.347-76264T>A) c.592T>A c.761T>A (p.Met254Lys) n.577T>A c.764T>A (p.Met255Lys) c.515T>A (p.Met172Lys) | |
2 | g.199348937T>A | CA350387806 | SATB2 | c.583A>T (p.Met195Leu) c.937A>T (p.Met313Leu) c.347-76265A>T (n.347-76265A>T) c.591A>T c.760A>T (p.Met254Leu) n.576A>T c.763A>T (p.Met255Leu) c.514A>T (p.Met172Leu) | |
2 | g.199348937T>C | CA350387807 | SATB2 | c.583A>G (p.Met195Val) c.937A>G (p.Met313Val) c.347-76265A>G (n.347-76265A>G) c.591A>G c.760A>G (p.Met254Val) n.576A>G c.763A>G (p.Met255Val) c.514A>G (p.Met172Val) | |
2 | g.199348937T>G | CA350387808 | SATB2 | c.583A>C (p.Met195Leu) c.937A>C (p.Met313Leu) c.347-76265A>C (n.347-76265A>C) c.591A>C c.760A>C (p.Met254Leu) n.576A>C c.763A>C (p.Met255Leu) c.514A>C (p.Met172Leu) | |
2 | g.199348938G>A | CA2045984 | SATB2 | c.582C>T (p.Ala194=) c.936C>T (p.Ala312=) c.347-76266C>T (n.347-76266C>T) c.590C>T c.759C>T (p.Ala253=) n.575C>T c.762C>T (p.Ala254=) c.513C>T (p.Ala171=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.199348938G>C | CA430835299 | SATB2 | c.582C>G (p.Ala194=) c.936C>G (p.Ala312=) c.347-76266C>G (n.347-76266C>G) c.590C>G c.759C>G (p.Ala253=) n.575C>G c.762C>G (p.Ala254=) c.513C>G (p.Ala171=) | |
2 | g.199348938G= | CA1320151684 | SATB2 | c.582C= (p.Ala194=) c.936C= (p.Ala312=) c.347-76266C= (n.347-76266C=) c.590C= c.759C= (p.Ala253=) n.575C= c.762C= (p.Ala254=) c.513C= (p.Ala171=) | |
2 | g.199348938G>T | CA430835298 | SATB2 | c.582C>A (p.Ala194=) c.936C>A (p.Ala312=) c.347-76266C>A (n.347-76266C>A) c.590C>A c.759C>A (p.Ala253=) n.575C>A c.762C>A (p.Ala254=) c.513C>A (p.Ala171=) | |
2 | g.199348939G>A | CA2045985 | SATB2 | c.581C>T (p.Ala194Val) c.935C>T (p.Ala312Val) c.347-76267C>T (n.347-76267C>T) c.589C>T c.758C>T (p.Ala253Val) n.574C>T c.761C>T (p.Ala254Val) c.512C>T (p.Ala171Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.199348939G>C | CA350387809 | SATB2 | c.581C>G (p.Ala194Gly) c.935C>G (p.Ala312Gly) c.347-76267C>G (n.347-76267C>G) c.589C>G c.758C>G (p.Ala253Gly) n.574C>G c.761C>G (p.Ala254Gly) c.512C>G (p.Ala171Gly) | |
2 | g.199348939G= | CA1320151685 | SATB2 | c.581C= (p.Ala194=) c.935C= (p.Ala312=) c.347-76267C= (n.347-76267C=) c.589C= c.758C= (p.Ala253=) n.574C= c.761C= (p.Ala254=) c.512C= (p.Ala171=) | |
2 | g.199348939G>T | CA350387810 | SATB2 | c.581C>A (p.Ala194Asp) c.935C>A (p.Ala312Asp) c.347-76267C>A (n.347-76267C>A) c.589C>A c.758C>A (p.Ala253Asp) n.574C>A c.761C>A (p.Ala254Asp) c.512C>A (p.Ala171Asp) | |
2 | g.199348940C>A | CA350387811 | SATB2 | c.580G>T (p.Ala194Ser) c.934G>T (p.Ala312Ser) c.347-76268G>T (n.347-76268G>T) c.588G>T c.757G>T (p.Ala253Ser) n.573G>T c.760G>T (p.Ala254Ser) c.511G>T (p.Ala171Ser) | |
2 | g.199348940C>G | CA350387812 | SATB2 | c.580G>C (p.Ala194Pro) c.934G>C (p.Ala312Pro) c.347-76268G>C (n.347-76268G>C) c.588G>C c.757G>C (p.Ala253Pro) n.573G>C c.760G>C (p.Ala254Pro) c.511G>C (p.Ala171Pro) | |
2 | g.199348940C>T | CA350387813 | SATB2 | c.580G>A (p.Ala194Thr) c.934G>A (p.Ala312Thr) c.347-76268G>A (n.347-76268G>A) c.588G>A c.757G>A (p.Ala253Thr) n.573G>A c.760G>A (p.Ala254Thr) c.511G>A (p.Ala171Thr) | |
2 | g.199348941T>A | CA430835301 | SATB2 | c.579A>T (p.Ile193=) c.933A>T (p.Ile311=) c.347-76269A>T (n.347-76269A>T) c.587A>T c.756A>T (p.Ile252=) n.572A>T c.759A>T (p.Ile253=) c.510A>T (p.Ile170=) | |
2 | g.199348941T>C | CA350387814 | SATB2 | c.579A>G (p.Ile193Met) c.933A>G (p.Ile311Met) c.347-76269A>G (n.347-76269A>G) c.587A>G c.756A>G (p.Ile252Met) n.572A>G c.759A>G (p.Ile253Met) c.510A>G (p.Ile170Met) | |
2 | g.199348941T>G | CA430835302 | SATB2 | c.579A>C (p.Ile193=) c.933A>C (p.Ile311=) c.347-76269A>C (n.347-76269A>C) c.587A>C c.756A>C (p.Ile252=) n.572A>C c.759A>C (p.Ile253=) c.510A>C (p.Ile170=) | |
2 | g.199348942A>C | CA350387815 | SATB2 | c.578T>G (p.Ile193Arg) c.932T>G (p.Ile311Arg) c.347-76270T>G (n.347-76270T>G) c.586T>G c.755T>G (p.Ile252Arg) n.571T>G c.758T>G (p.Ile253Arg) c.509T>G (p.Ile170Arg) | |
2 | g.199348942A>G | CA350387816 | SATB2 | c.578T>C (p.Ile193Thr) c.932T>C (p.Ile311Thr) c.347-76270T>C (n.347-76270T>C) c.586T>C c.755T>C (p.Ile252Thr) n.571T>C c.758T>C (p.Ile253Thr) c.509T>C (p.Ile170Thr) | |
2 | g.199348942A>T | CA350387817 | SATB2 | c.578T>A (p.Ile193Lys) c.932T>A (p.Ile311Lys) c.347-76270T>A (n.347-76270T>A) c.586T>A c.755T>A (p.Ile252Lys) n.571T>A c.758T>A (p.Ile253Lys) c.509T>A (p.Ile170Lys) | |
2 | g.199348943T>A | CA350387819 | SATB2 | c.577A>T (p.Ile193Leu) c.931A>T (p.Ile311Leu) c.347-76271A>T (n.347-76271A>T) c.585A>T c.754A>T (p.Ile252Leu) n.570A>T c.757A>T (p.Ile253Leu) c.508A>T (p.Ile170Leu) | |
2 | g.199348943T>C | CA350387820 | SATB2 | c.577A>G (p.Ile193Val) c.931A>G (p.Ile311Val) c.347-76271A>G (n.347-76271A>G) c.585A>G c.754A>G (p.Ile252Val) n.570A>G c.757A>G (p.Ile253Val) c.508A>G (p.Ile170Val) | |
2 | g.199348943T>G | CA350387818 | SATB2 | c.577A>C (p.Ile193Leu) c.931A>C (p.Ile311Leu) c.347-76271A>C (n.347-76271A>C) c.585A>C c.754A>C (p.Ile252Leu) n.570A>C c.757A>C (p.Ile253Leu) c.508A>C (p.Ile170Leu) | |
2 | g.199348944T>A | CA350387821 | SATB2 | c.576A>T (p.Gln192His) c.930A>T (p.Gln310His) c.347-76272A>T (n.347-76272A>T) c.584A>T c.753A>T (p.Gln251His) n.569A>T c.756A>T (p.Gln252His) c.507A>T (p.Gln169His) | |
2 | g.199348944T>C | CA430835306 | SATB2 | c.576A>G (p.Gln192=) c.930A>G (p.Gln310=) c.347-76272A>G (n.347-76272A>G) c.584A>G c.753A>G (p.Gln251=) n.569A>G c.756A>G (p.Gln252=) c.507A>G (p.Gln169=) | gnomAD v4 |
2 | g.199348944T>G | CA350387822 | SATB2 | c.576A>C (p.Gln192His) c.930A>C (p.Gln310His) c.347-76272A>C (n.347-76272A>C) c.584A>C c.753A>C (p.Gln251His) n.569A>C c.756A>C (p.Gln252His) c.507A>C (p.Gln169His) | |
2 | g.199348944_199348945insGTTGCCTTACAA | CA2586970964 | SATB2 | c.575_576insTTGTAAGGCAAC (p.Gln192delinsHisCysLysAlaThr) c.929_930insTTGTAAGGCAAC (p.Gln310delinsHisCysLysAlaThr) c.347-76273_347-76272insTTGTAAGGCAAC (n.347-76273_347-76272insTTGTAAGGCAAC) c.583_584insTTGTAAGGCAAC c.752_753insTTGTAAGGCAAC (p.Gln251delinsHisCysLysAlaThr) n.568_569insTTGTAAGGCAAC c.755_756insTTGTAAGGCAAC (p.Gln252delinsHisCysLysAlaThr) c.506_507insTTGTAAGGCAAC (p.Gln169delinsHisCysLysAlaThr) | |
2 | g.199348945T>A | CA350387823 | SATB2 | c.575A>T (p.Gln192Leu) c.929A>T (p.Gln310Leu) c.347-76273A>T (n.347-76273A>T) c.583A>T c.752A>T (p.Gln251Leu) n.568A>T c.755A>T (p.Gln252Leu) c.506A>T (p.Gln169Leu) | |
2 | g.199348945T>C | CA350387824 | SATB2 | c.575A>G (p.Gln192Arg) c.929A>G (p.Gln310Arg) c.347-76273A>G (n.347-76273A>G) c.583A>G c.752A>G (p.Gln251Arg) n.568A>G c.755A>G (p.Gln252Arg) c.506A>G (p.Gln169Arg) | |
2 | g.199348945T>G | CA350387825 | SATB2 | c.575A>C (p.Gln192Pro) c.929A>C (p.Gln310Pro) c.347-76273A>C (n.347-76273A>C) c.583A>C c.752A>C (p.Gln251Pro) n.568A>C c.755A>C (p.Gln252Pro) c.506A>C (p.Gln169Pro) | |
2 | g.199348946G>A | CA350387826 | SATB2 | c.574C>T (p.Gln192Ter) c.928C>T (p.Gln310Ter) c.347-76274C>T (n.347-76274C>T) c.582C>T c.751C>T (p.Gln251Ter) n.567C>T c.754C>T (p.Gln252Ter) c.505C>T (p.Gln169Ter) | |
2 | g.199348946G>C | CA350387827 | SATB2 | c.574C>G (p.Gln192Glu) c.928C>G (p.Gln310Glu) c.347-76274C>G (n.347-76274C>G) c.582C>G c.751C>G (p.Gln251Glu) n.567C>G c.754C>G (p.Gln252Glu) c.505C>G (p.Gln169Glu) | |
2 | g.199348946G>T | CA350387828 | SATB2 | c.574C>A (p.Gln192Lys) c.928C>A (p.Gln310Lys) c.347-76274C>A (n.347-76274C>A) c.582C>A c.751C>A (p.Gln251Lys) n.567C>A c.754C>A (p.Gln252Lys) c.505C>A (p.Gln169Lys) | |
2 | g.199348950_199348961dup | CA2739292308 | SATB2 | c.563_574dup (p.Gln191_Gln192insLeuValArgGln) c.917_928dup (p.Gln309_Gln310insLeuValArgGln) c.347-76285_347-76274dup (n.347-76285_347-76274dup) c.571_582dup c.740_751dup (p.Gln250_Gln251insLeuValArgGln) n.556_567dup c.743_754dup (p.Gln251_Gln252insLeuValArgGln) c.494_505dup (p.Gln168_Gln169insLeuValArgGln) | |
2 | g.199348947T>A | CA350387829 | SATB2 | c.573A>T (p.Gln191His) c.927A>T (p.Gln309His) c.347-76275A>T (n.347-76275A>T) c.581A>T c.750A>T (p.Gln250His) n.566A>T c.753A>T (p.Gln251His) c.504A>T (p.Gln168His) | |
2 | g.199348947T>C | CA430835308 | SATB2 | c.573A>G (p.Gln191=) c.927A>G (p.Gln309=) c.347-76275A>G (n.347-76275A>G) c.581A>G c.750A>G (p.Gln250=) n.566A>G c.753A>G (p.Gln251=) c.504A>G (p.Gln168=) | ClinVar dbSNP gnomAD v4 |
2 | g.199348947T>G | CA350387830 | SATB2 | c.573A>C (p.Gln191His) c.927A>C (p.Gln309His) c.347-76275A>C (n.347-76275A>C) c.581A>C c.750A>C (p.Gln250His) n.566A>C c.753A>C (p.Gln251His) c.504A>C (p.Gln168His) | ClinVar |
2 | g.199348947T= | CA1320151686 | SATB2 | c.573A= (p.Gln191=) c.927A= (p.Gln309=) c.347-76275A= (n.347-76275A=) c.581A= c.750A= (p.Gln250=) n.566A= c.753A= (p.Gln251=) c.504A= (p.Gln168=) | |
2 | g.199348948T>A | CA350387831 | SATB2 | c.572A>T (p.Gln191Leu) c.926A>T (p.Gln309Leu) c.347-76276A>T (n.347-76276A>T) c.580A>T c.749A>T (p.Gln250Leu) n.565A>T c.752A>T (p.Gln251Leu) c.503A>T (p.Gln168Leu) | |
2 | g.199348948T>C | CA350387832 | SATB2 | c.572A>G (p.Gln191Arg) c.926A>G (p.Gln309Arg) c.347-76276A>G (n.347-76276A>G) c.580A>G c.749A>G (p.Gln250Arg) n.565A>G c.752A>G (p.Gln251Arg) c.503A>G (p.Gln168Arg) | |
2 | g.199348948T>G | CA350387833 | SATB2 | c.572A>C (p.Gln191Pro) c.926A>C (p.Gln309Pro) c.347-76276A>C (n.347-76276A>C) c.580A>C c.749A>C (p.Gln250Pro) n.565A>C c.752A>C (p.Gln251Pro) c.503A>C (p.Gln168Pro) | |
2 | g.199348949G>A | CA350387834 | SATB2 | c.571C>T (p.Gln191Ter) c.925C>T (p.Gln309Ter) c.347-76277C>T (n.347-76277C>T) c.579C>T c.748C>T (p.Gln250Ter) n.564C>T c.751C>T (p.Gln251Ter) c.502C>T (p.Gln168Ter) | ClinVar dbSNP |
2 | g.199348949G>C | CA350387836 | SATB2 | c.571C>G (p.Gln191Glu) c.925C>G (p.Gln309Glu) c.347-76277C>G (n.347-76277C>G) c.579C>G c.748C>G (p.Gln250Glu) n.564C>G c.751C>G (p.Gln251Glu) c.502C>G (p.Gln168Glu) | |
2 | g.199348949G= | CA1320151687 | SATB2 | c.571C= (p.Gln191=) c.925C= (p.Gln309=) c.347-76277C= (n.347-76277C=) c.579C= c.748C= (p.Gln250=) n.564C= c.751C= (p.Gln251=) c.502C= (p.Gln168=) | |
2 | g.199348949G>T | CA350387835 | SATB2 | c.571C>A (p.Gln191Lys) c.925C>A (p.Gln309Lys) c.347-76277C>A (n.347-76277C>A) c.579C>A c.748C>A (p.Gln250Lys) n.564C>A c.751C>A (p.Gln251Lys) c.502C>A (p.Gln168Lys) | |
2 | g.199348950C>A | CA350387837 | SATB2 | c.570G>T (p.Arg190Ser) c.924G>T (p.Arg308Ser) c.347-76278G>T (n.347-76278G>T) c.578G>T c.747G>T (p.Arg249Ser) n.563G>T c.750G>T (p.Arg250Ser) c.501G>T (p.Arg167Ser) | |
2 | g.199348950C>G | CA350387838 | SATB2 | c.570G>C (p.Arg190Ser) c.924G>C (p.Arg308Ser) c.347-76278G>C (n.347-76278G>C) c.578G>C c.747G>C (p.Arg249Ser) n.563G>C c.750G>C (p.Arg250Ser) c.501G>C (p.Arg167Ser) | |
2 | g.199348950C>T | CA430835311 | SATB2 | c.570G>A (p.Arg190=) c.924G>A (p.Arg308=) c.347-76278G>A (n.347-76278G>A) c.578G>A c.747G>A (p.Arg249=) n.563G>A c.750G>A (p.Arg250=) c.501G>A (p.Arg167=) | |
2 | g.199348951C>A | CA350387839 | SATB2 | c.569G>T (p.Arg190Met) c.923G>T (p.Arg308Met) c.347-76279G>T (n.347-76279G>T) c.577G>T c.746G>T (p.Arg249Met) n.562G>T c.749G>T (p.Arg250Met) c.500G>T (p.Arg167Met) | |
2 | g.199348951C>G | CA350387840 | SATB2 | c.569G>C (p.Arg190Thr) c.923G>C (p.Arg308Thr) c.347-76279G>C (n.347-76279G>C) c.577G>C c.746G>C (p.Arg249Thr) n.562G>C c.749G>C (p.Arg250Thr) c.500G>C (p.Arg167Thr) | |
2 | g.199348951C>T | CA350387841 | SATB2 | c.569G>A (p.Arg190Lys) c.923G>A (p.Arg308Lys) c.347-76279G>A (n.347-76279G>A) c.577G>A c.746G>A (p.Arg249Lys) n.562G>A c.749G>A (p.Arg250Lys) c.500G>A (p.Arg167Lys) | |
2 | g.199348952T>A | CA350387842 | SATB2 | c.568A>T (p.Arg190Trp) c.922A>T (p.Arg308Trp) c.347-76280A>T (n.347-76280A>T) c.576A>T c.745A>T (p.Arg249Trp) n.561A>T c.748A>T (p.Arg250Trp) c.499A>T (p.Arg167Trp) | |
2 | g.199348952T>C | CA350387843 | SATB2 | c.568A>G (p.Arg190Gly) c.922A>G (p.Arg308Gly) c.347-76280A>G (n.347-76280A>G) c.576A>G c.745A>G (p.Arg249Gly) n.561A>G c.748A>G (p.Arg250Gly) c.499A>G (p.Arg167Gly) | gnomAD v4 |
2 | g.199348952T>G | CA430835314 | SATB2 | c.568A>C (p.Arg190=) c.922A>C (p.Arg308=) c.347-76280A>C (n.347-76280A>C) c.576A>C c.745A>C (p.Arg249=) n.561A>C c.748A>C (p.Arg250=) c.499A>C (p.Arg167=) | |
2 | g.199348953T>A | CA430835315 | SATB2 | c.567A>T (p.Val189=) c.921A>T (p.Val307=) c.347-76281A>T (n.347-76281A>T) c.575A>T c.744A>T (p.Val248=) n.560A>T c.747A>T (p.Val249=) c.498A>T (p.Val166=) | |
2 | g.199348953T>C | CA430835316 | SATB2 | c.567A>G (p.Val189=) c.921A>G (p.Val307=) c.347-76281A>G (n.347-76281A>G) c.575A>G c.744A>G (p.Val248=) n.560A>G c.747A>G (p.Val249=) c.498A>G (p.Val166=) | |
2 | g.199348953T>G | CA430835317 | SATB2 | c.567A>C (p.Val189=) c.921A>C (p.Val307=) c.347-76281A>C (n.347-76281A>C) c.575A>C c.744A>C (p.Val248=) n.560A>C c.747A>C (p.Val249=) c.498A>C (p.Val166=) | |
2 | g.199348954A>C | CA350387844 | SATB2 | c.566T>G (p.Val189Gly) c.920T>G (p.Val307Gly) c.347-76282T>G (n.347-76282T>G) c.574T>G c.743T>G (p.Val248Gly) n.559T>G c.746T>G (p.Val249Gly) c.497T>G (p.Val166Gly) | |
2 | g.199348954A>G | CA350387845 | SATB2 | c.566T>C (p.Val189Ala) c.920T>C (p.Val307Ala) c.347-76282T>C (n.347-76282T>C) c.574T>C c.743T>C (p.Val248Ala) n.559T>C c.746T>C (p.Val249Ala) c.497T>C (p.Val166Ala) | |
2 | g.199348954A>T | CA350387846 | SATB2 | c.566T>A (p.Val189Glu) c.920T>A (p.Val307Glu) c.347-76282T>A (n.347-76282T>A) c.574T>A c.743T>A (p.Val248Glu) n.559T>A c.746T>A (p.Val249Glu) c.497T>A (p.Val166Glu) | |
2 | g.199348955C>A | CA350387849 | SATB2 | c.565G>T (p.Val189Leu) c.919G>T (p.Val307Leu) c.347-76283G>T (n.347-76283G>T) c.573G>T c.742G>T (p.Val248Leu) n.558G>T c.745G>T (p.Val249Leu) c.496G>T (p.Val166Leu) | |
2 | g.199348955C>G | CA350387848 | SATB2 | c.565G>C (p.Val189Leu) c.919G>C (p.Val307Leu) c.347-76283G>C (n.347-76283G>C) c.573G>C c.742G>C (p.Val248Leu) n.558G>C c.745G>C (p.Val249Leu) c.496G>C (p.Val166Leu) | |
2 | g.199348955C>T | CA350387847 | SATB2 | c.565G>A (p.Val189Ile) c.919G>A (p.Val307Ile) c.347-76283G>A (n.347-76283G>A) c.573G>A c.742G>A (p.Val248Ile) n.558G>A c.745G>A (p.Val249Ile) c.496G>A (p.Val166Ile) | |
2 | g.199348956A>C | CA430835321 | SATB2 | c.564T>G (p.Leu188=) c.918T>G (p.Leu306=) c.347-76284T>G (n.347-76284T>G) c.572T>G c.741T>G (p.Leu247=) n.557T>G c.744T>G (p.Leu248=) c.495T>G (p.Leu165=) | |
2 | g.199348956A>G | CA430835322 | SATB2 | c.564T>C (p.Leu188=) c.918T>C (p.Leu306=) c.347-76284T>C (n.347-76284T>C) c.572T>C c.741T>C (p.Leu247=) n.557T>C c.744T>C (p.Leu248=) c.495T>C (p.Leu165=) | |
2 | g.199348956A>T | CA430835323 | SATB2 | c.564T>A (p.Leu188=) c.918T>A (p.Leu306=) c.347-76284T>A (n.347-76284T>A) c.572T>A c.741T>A (p.Leu247=) n.557T>A c.744T>A (p.Leu248=) c.495T>A (p.Leu165=) | |
2 | g.199348957A= | CA1320151688 | SATB2 | c.563T= (p.Leu188=) c.917T= (p.Leu306=) c.347-76285T= (n.347-76285T=) c.571T= c.740T= (p.Leu247=) n.556T= c.743T= (p.Leu248=) c.494T= (p.Leu165=) | |
2 | g.199348957A>C | CA350387850 | SATB2 | c.563T>G (p.Leu188Arg) c.917T>G (p.Leu306Arg) c.347-76285T>G (n.347-76285T>G) c.571T>G c.740T>G (p.Leu247Arg) n.556T>G c.743T>G (p.Leu248Arg) c.494T>G (p.Leu165Arg) | |
2 | g.199348957A>G | CA350387852 | SATB2 | c.563T>C (p.Leu188Pro) c.917T>C (p.Leu306Pro) c.347-76285T>C (n.347-76285T>C) c.571T>C c.740T>C (p.Leu247Pro) n.556T>C c.743T>C (p.Leu248Pro) c.494T>C (p.Leu165Pro) | |
2 | g.199348957A>T | CA350387851 | SATB2 | c.563T>A (p.Leu188His) c.917T>A (p.Leu306His) c.347-76285T>A (n.347-76285T>A) c.571T>A c.740T>A (p.Leu247His) n.556T>A c.743T>A (p.Leu248His) c.494T>A (p.Leu165His) | ClinVar dbSNP |
2 | g.199348958G>A | CA350387853 | SATB2 | c.562C>T (p.Leu188Phe) c.916C>T (p.Leu306Phe) c.347-76286C>T (n.347-76286C>T) c.570C>T c.739C>T (p.Leu247Phe) n.555C>T c.742C>T (p.Leu248Phe) c.493C>T (p.Leu165Phe) | dbSNP |
2 | g.199348958G>C | CA350387854 | SATB2 | c.562C>G (p.Leu188Val) c.916C>G (p.Leu306Val) c.347-76286C>G (n.347-76286C>G) c.570C>G c.739C>G (p.Leu247Val) n.555C>G c.742C>G (p.Leu248Val) c.493C>G (p.Leu165Val) | |
2 | g.199348958G= | CA1320151689 | SATB2 | c.562C= (p.Leu188=) c.916C= (p.Leu306=) c.347-76286C= (n.347-76286C=) c.570C= c.739C= (p.Leu247=) n.555C= c.742C= (p.Leu248=) c.493C= (p.Leu165=) | |
2 | g.199348958G>T | CA350387855 | SATB2 | c.562C>A (p.Leu188Ile) c.916C>A (p.Leu306Ile) c.347-76286C>A (n.347-76286C>A) c.570C>A c.739C>A (p.Leu247Ile) n.555C>A c.742C>A (p.Leu248Ile) c.493C>A (p.Leu165Ile) | COSMIC |
2 | g.199348959T>A | CA350387856 | SATB2 | c.561A>T (p.Gln187His) c.915A>T (p.Gln305His) c.347-76287A>T (n.347-76287A>T) c.569A>T c.738A>T (p.Gln246His) n.554A>T c.741A>T (p.Gln247His) c.492A>T (p.Gln164His) | |
2 | g.199348959T>C | CA430835324 | SATB2 | c.561A>G (p.Gln187=) c.915A>G (p.Gln305=) c.347-76287A>G (n.347-76287A>G) c.569A>G c.738A>G (p.Gln246=) n.554A>G c.741A>G (p.Gln247=) c.492A>G (p.Gln164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.199348959T>G | CA350387857 | SATB2 | c.561A>C (p.Gln187His) c.915A>C (p.Gln305His) c.347-76287A>C (n.347-76287A>C) c.569A>C c.738A>C (p.Gln246His) n.554A>C c.741A>C (p.Gln247His) c.492A>C (p.Gln164His) | |
2 | g.199348959T= | CA1320151690 | SATB2 | c.561A= (p.Gln187=) c.915A= (p.Gln305=) c.347-76287A= (n.347-76287A=) c.569A= c.738A= (p.Gln246=) n.554A= c.741A= (p.Gln247=) c.492A= (p.Gln164=) | |
2 | g.199348960T>A | CA350387860 | SATB2 | c.560A>T (p.Gln187Leu) c.914A>T (p.Gln305Leu) c.347-76288A>T (n.347-76288A>T) c.568A>T c.737A>T (p.Gln246Leu) n.553A>T c.740A>T (p.Gln247Leu) c.491A>T (p.Gln164Leu) | |
2 | g.199348960T>C | CA350387859 | SATB2 | c.560A>G (p.Gln187Arg) c.914A>G (p.Gln305Arg) c.347-76288A>G (n.347-76288A>G) c.568A>G c.737A>G (p.Gln246Arg) n.553A>G c.740A>G (p.Gln247Arg) c.491A>G (p.Gln164Arg) | |
2 | g.199348960T>G | CA350387858 | SATB2 | c.560A>C (p.Gln187Pro) c.914A>C (p.Gln305Pro) c.347-76288A>C (n.347-76288A>C) c.568A>C c.737A>C (p.Gln246Pro) n.553A>C c.740A>C (p.Gln247Pro) c.491A>C (p.Gln164Pro) | |
2 | g.199348961G>A | CA350387861 | SATB2 | c.559C>T (p.Gln187Ter) c.913C>T (p.Gln305Ter) c.347-76289C>T (n.347-76289C>T) c.567C>T c.736C>T (p.Gln246Ter) n.552C>T c.739C>T (p.Gln247Ter) c.490C>T (p.Gln164Ter) | ClinVar |
2 | g.199348961G>C | CA350387862 | SATB2 | c.559C>G (p.Gln187Glu) c.913C>G (p.Gln305Glu) c.347-76289C>G (n.347-76289C>G) c.567C>G c.736C>G (p.Gln246Glu) n.552C>G c.739C>G (p.Gln247Glu) c.490C>G (p.Gln164Glu) | |
2 | g.199348961G>T | CA350387863 | SATB2 | c.559C>A (p.Gln187Lys) c.913C>A (p.Gln305Lys) c.347-76289C>A (n.347-76289C>A) c.567C>A c.736C>A (p.Gln246Lys) n.552C>A c.739C>A (p.Gln247Lys) c.490C>A (p.Gln164Lys) | |
2 | g.199348962T>A | CA430835326 | SATB2 | c.558A>T (p.Pro186=) c.912A>T (p.Pro304=) c.347-76290A>T (n.347-76290A>T) c.566A>T c.735A>T (p.Pro245=) n.551A>T c.738A>T (p.Pro246=) c.489A>T (p.Pro163=) | ClinVar dbSNP |
2 | g.199348962T>C | CA430835327 | SATB2 | c.558A>G (p.Pro186=) c.912A>G (p.Pro304=) c.347-76290A>G (n.347-76290A>G) c.566A>G c.735A>G (p.Pro245=) n.551A>G c.738A>G (p.Pro246=) c.489A>G (p.Pro163=) | |
2 | g.199348962T>G | CA430835328 | SATB2 | c.558A>C (p.Pro186=) c.912A>C (p.Pro304=) c.347-76290A>C (n.347-76290A>C) c.566A>C c.735A>C (p.Pro245=) n.551A>C c.738A>C (p.Pro246=) c.489A>C (p.Pro163=) | |
2 | g.199348962T= | CA1320151691 | SATB2 | c.558A= (p.Pro186=) c.912A= (p.Pro304=) c.347-76290A= (n.347-76290A=) c.566A= c.735A= (p.Pro245=) n.551A= c.738A= (p.Pro246=) c.489A= (p.Pro163=) | |
2 | g.199348963G>A | CA350387864 | SATB2 | c.557C>T (p.Pro186Leu) c.911C>T (p.Pro304Leu) c.347-76291C>T (n.347-76291C>T) c.565C>T c.734C>T (p.Pro245Leu) n.550C>T c.737C>T (p.Pro246Leu) c.488C>T (p.Pro163Leu) | ClinVar dbSNP |
2 | g.199348963G>C | CA350387865 | SATB2 | c.557C>G (p.Pro186Arg) c.911C>G (p.Pro304Arg) c.347-76291C>G (n.347-76291C>G) c.565C>G c.734C>G (p.Pro245Arg) n.550C>G c.737C>G (p.Pro246Arg) c.488C>G (p.Pro163Arg) | ClinVar |
2 | g.199348963G>T | CA350387866 | SATB2 | c.557C>A (p.Pro186Gln) c.911C>A (p.Pro304Gln) c.347-76291C>A (n.347-76291C>A) c.565C>A c.734C>A (p.Pro245Gln) n.550C>A c.737C>A (p.Pro246Gln) c.488C>A (p.Pro163Gln) | |
2 | g.199348964G>A | CA350387869 | SATB2 | c.556C>T (p.Pro186Ser) c.910C>T (p.Pro304Ser) c.347-76292C>T (n.347-76292C>T) c.564C>T c.733C>T (p.Pro245Ser) n.549C>T c.736C>T (p.Pro246Ser) c.487C>T (p.Pro163Ser) | |
2 | g.199348964G>C | CA350387867 | SATB2 | c.556C>G (p.Pro186Ala) c.910C>G (p.Pro304Ala) c.347-76292C>G (n.347-76292C>G) c.564C>G c.733C>G (p.Pro245Ala) n.549C>G c.736C>G (p.Pro246Ala) c.487C>G (p.Pro163Ala) | |
2 | g.199348964G>T | CA350387868 | SATB2 | c.556C>A (p.Pro186Thr) c.910C>A (p.Pro304Thr) c.347-76292C>A (n.347-76292C>A) c.564C>A c.733C>A (p.Pro245Thr) n.549C>A c.736C>A (p.Pro246Thr) c.487C>A (p.Pro163Thr) | |
2 | g.199348965A>C | CA350387870 | SATB2 | c.555T>G (p.Ser185Arg) c.909T>G (p.Ser303Arg) c.347-76293T>G (n.347-76293T>G) c.563T>G c.732T>G (p.Ser244Arg) n.548T>G c.735T>G (p.Ser245Arg) c.486T>G (p.Ser162Arg) | |
2 | g.199348965A>G | CA430835332 | SATB2 | c.555T>C (p.Ser185=) c.909T>C (p.Ser303=) c.347-76293T>C (n.347-76293T>C) c.563T>C c.732T>C (p.Ser244=) n.548T>C c.735T>C (p.Ser245=) c.486T>C (p.Ser162=) | ClinVar |
2 | g.199348965A>T | CA350387871 | SATB2 | c.555T>A (p.Ser185Arg) c.909T>A (p.Ser303Arg) c.347-76293T>A (n.347-76293T>A) c.563T>A c.732T>A (p.Ser244Arg) n.548T>A c.735T>A (p.Ser245Arg) c.486T>A (p.Ser162Arg) | |
2 | g.199348966C>A | CA350387872 | SATB2 | c.554G>T (p.Ser185Ile) c.908G>T (p.Ser303Ile) c.347-76294G>T (n.347-76294G>T) c.562G>T c.731G>T (p.Ser244Ile) n.547G>T c.734G>T (p.Ser245Ile) c.485G>T (p.Ser162Ile) | |
2 | g.199348966C= | CA1320151692 | SATB2 | c.554G= (p.Ser185=) c.908G= (p.Ser303=) c.347-76294G= (n.347-76294G=) c.562G= c.731G= (p.Ser244=) n.547G= c.734G= (p.Ser245=) c.485G= (p.Ser162=) | |
2 | g.199348966C>G | CA350387873 | SATB2 | c.554G>C (p.Ser185Thr) c.908G>C (p.Ser303Thr) c.347-76294G>C (n.347-76294G>C) c.562G>C c.731G>C (p.Ser244Thr) n.547G>C c.734G>C (p.Ser245Thr) c.485G>C (p.Ser162Thr) | |
2 | g.199348966C>T | CA350387874 | SATB2 | c.554G>A (p.Ser185Asn) c.908G>A (p.Ser303Asn) c.347-76294G>A (n.347-76294G>A) c.562G>A c.731G>A (p.Ser244Asn) n.547G>A c.734G>A (p.Ser245Asn) c.485G>A (p.Ser162Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.199348967T>A | CA350387875 | SATB2 | c.553A>T (p.Ser185Cys) c.907A>T (p.Ser303Cys) c.347-76295A>T (n.347-76295A>T) c.561A>T c.730A>T (p.Ser244Cys) n.546A>T c.733A>T (p.Ser245Cys) c.484A>T (p.Ser162Cys) | |
2 | g.199348967T>C | CA350387876 | SATB2 | c.553A>G (p.Ser185Gly) c.907A>G (p.Ser303Gly) c.347-76295A>G (n.347-76295A>G) c.561A>G c.730A>G (p.Ser244Gly) n.546A>G c.733A>G (p.Ser245Gly) c.484A>G (p.Ser162Gly) | |
2 | g.199348967T>G | CA350387877 | SATB2 | c.553A>C (p.Ser185Arg) c.907A>C (p.Ser303Arg) c.347-76295A>C (n.347-76295A>C) c.561A>C c.730A>C (p.Ser244Arg) n.546A>C c.733A>C (p.Ser245Arg) c.484A>C (p.Ser162Arg) | |
2 | g.199348968A= | CA1320151693 | SATB2 | c.552T= (p.Leu184=) c.906T= (p.Leu302=) c.347-76296T= (n.347-76296T=) c.560T= c.729T= (p.Leu243=) n.545T= c.732T= (p.Leu244=) c.483T= (p.Leu161=) | |
2 | g.199348968A>C | CA430835335 | SATB2 | c.552T>G (p.Leu184=) c.906T>G (p.Leu302=) c.347-76296T>G (n.347-76296T>G) c.560T>G c.729T>G (p.Leu243=) n.545T>G c.732T>G (p.Leu244=) c.483T>G (p.Leu161=) | |
2 | g.199348968A>G | CA2045986 | SATB2 | c.552T>C (p.Leu184=) c.906T>C (p.Leu302=) c.347-76296T>C (n.347-76296T>C) c.560T>C c.729T>C (p.Leu243=) n.545T>C c.732T>C (p.Leu244=) c.483T>C (p.Leu161=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.199348968A>T | CA430835334 | SATB2 | c.552T>A (p.Leu184=) c.906T>A (p.Leu302=) c.347-76296T>A (n.347-76296T>A) c.560T>A c.729T>A (p.Leu243=) n.545T>A c.732T>A (p.Leu244=) c.483T>A (p.Leu161=) | |
2 | g.199348969A>C | CA350387878 | SATB2 | c.551T>G (p.Leu184Arg) c.905T>G (p.Leu302Arg) c.347-76297T>G (n.347-76297T>G) c.559T>G c.728T>G (p.Leu243Arg) n.544T>G c.731T>G (p.Leu244Arg) c.482T>G (p.Leu161Arg) | |
2 | g.199348969A>G | CA350387879 | SATB2 | c.551T>C (p.Leu184Pro) c.905T>C (p.Leu302Pro) c.347-76297T>C (n.347-76297T>C) c.559T>C c.728T>C (p.Leu243Pro) n.544T>C c.731T>C (p.Leu244Pro) c.482T>C (p.Leu161Pro) | |
2 | g.199348969A>T | CA350387880 | SATB2 | c.551T>A (p.Leu184His) c.905T>A (p.Leu302His) c.347-76297T>A (n.347-76297T>A) c.559T>A c.728T>A (p.Leu243His) n.544T>A c.731T>A (p.Leu244His) c.482T>A (p.Leu161His) | |
2 | g.199348970G>A | CA350387881 | SATB2 | c.550C>T (p.Leu184Phe) c.904C>T (p.Leu302Phe) c.347-76298C>T (n.347-76298C>T) c.558C>T c.727C>T (p.Leu243Phe) n.543C>T c.730C>T (p.Leu244Phe) c.481C>T (p.Leu161Phe) | |
2 | g.199348970G>C | CA350387883 | SATB2 | c.550C>G (p.Leu184Val) c.904C>G (p.Leu302Val) c.347-76298C>G (n.347-76298C>G) c.558C>G c.727C>G (p.Leu243Val) n.543C>G c.730C>G (p.Leu244Val) c.481C>G (p.Leu161Val) | |
2 | g.199348970G>T | CA350387882 | SATB2 | c.550C>A (p.Leu184Ile) c.904C>A (p.Leu302Ile) c.347-76298C>A (n.347-76298C>A) c.558C>A c.727C>A (p.Leu243Ile) n.543C>A c.730C>A (p.Leu244Ile) c.481C>A (p.Leu161Ile) | |
2 | g.199348971C>A | CA350387884 | SATB2 | c.549G>T (p.Gln183His) c.903G>T (p.Gln301His) c.347-76299G>T (n.347-76299G>T) c.557G>T c.726G>T (p.Gln242His) n.542G>T c.729G>T (p.Gln243His) c.480G>T (p.Gln160His) | |
2 | g.199348971C>G | CA350387885 | SATB2 | c.549G>C (p.Gln183His) c.903G>C (p.Gln301His) c.347-76299G>C (n.347-76299G>C) c.557G>C c.726G>C (p.Gln242His) n.542G>C c.729G>C (p.Gln243His) c.480G>C (p.Gln160His) | |
2 | g.199348971C>T | CA430835337 | SATB2 | c.549G>A (p.Gln183=) c.903G>A (p.Gln301=) c.347-76299G>A (n.347-76299G>A) c.557G>A c.726G>A (p.Gln242=) n.542G>A c.729G>A (p.Gln243=) c.480G>A (p.Gln160=) | gnomAD v4 |
2 | g.199348972T>A | CA350387886 | SATB2 | c.548A>T (p.Gln183Leu) c.902A>T (p.Gln301Leu) c.347-76300A>T (n.347-76300A>T) c.556A>T c.725A>T (p.Gln242Leu) n.541A>T c.728A>T (p.Gln243Leu) c.479A>T (p.Gln160Leu) | |
2 | g.199348972T>C | CA350387887 | SATB2 | c.548A>G (p.Gln183Arg) c.902A>G (p.Gln301Arg) c.347-76300A>G (n.347-76300A>G) c.556A>G c.725A>G (p.Gln242Arg) n.541A>G c.728A>G (p.Gln243Arg) c.479A>G (p.Gln160Arg) | |
2 | g.199348972T>G | CA350387888 | SATB2 | c.548A>C (p.Gln183Pro) c.902A>C (p.Gln301Pro) c.347-76300A>C (n.347-76300A>C) c.556A>C c.725A>C (p.Gln242Pro) n.541A>C c.728A>C (p.Gln243Pro) c.479A>C (p.Gln160Pro) | |
2 | g.199348973G>A | CA350387889 | SATB2 | c.547C>T (p.Gln183Ter) c.901C>T (p.Gln301Ter) c.347-76301C>T (n.347-76301C>T) c.555C>T c.724C>T (p.Gln242Ter) n.540C>T c.727C>T (p.Gln243Ter) c.478C>T (p.Gln160Ter) | |
2 | g.199348973G>C | CA350387890 | SATB2 | c.547C>G (p.Gln183Glu) c.901C>G (p.Gln301Glu) c.347-76301C>G (n.347-76301C>G) c.555C>G c.724C>G (p.Gln242Glu) n.540C>G c.727C>G (p.Gln243Glu) c.478C>G (p.Gln160Glu) | |
2 | g.199348973G>T | CA350387891 | SATB2 | c.547C>A (p.Gln183Lys) c.901C>A (p.Gln301Lys) c.347-76301C>A (n.347-76301C>A) c.555C>A c.724C>A (p.Gln242Lys) n.540C>A c.727C>A (p.Gln243Lys) c.478C>A (p.Gln160Lys) | |
2 | g.199348974G>A | CA430835338 | SATB2 | c.546C>T (p.Pro182=) c.900C>T (p.Pro300=) c.347-76302C>T (n.347-76302C>T) c.554C>T c.723C>T (p.Pro241=) n.539C>T c.726C>T (p.Pro242=) c.477C>T (p.Pro159=) | gnomAD v4 COSMIC |
2 | g.199348974G>C | CA430835339 | SATB2 | c.546C>G (p.Pro182=) c.900C>G (p.Pro300=) c.347-76302C>G (n.347-76302C>G) c.554C>G c.723C>G (p.Pro241=) n.539C>G c.726C>G (p.Pro242=) c.477C>G (p.Pro159=) | |
2 | g.199348974G>T | CA430835340 | SATB2 | c.546C>A (p.Pro182=) c.900C>A (p.Pro300=) c.347-76302C>A (n.347-76302C>A) c.554C>A c.723C>A (p.Pro241=) n.539C>A c.726C>A (p.Pro242=) c.477C>A (p.Pro159=) | |
2 | g.199348975G>A | CA350387892 | SATB2 | c.545C>T (p.Pro182Leu) c.899C>T (p.Pro300Leu) c.347-76303C>T (n.347-76303C>T) c.553C>T c.722C>T (p.Pro241Leu) n.538C>T c.725C>T (p.Pro242Leu) c.476C>T (p.Pro159Leu) | |
2 | g.199348975G>C | CA350387893 | SATB2 | c.545C>G (p.Pro182Arg) c.899C>G (p.Pro300Arg) c.347-76303C>G (n.347-76303C>G) c.553C>G c.722C>G (p.Pro241Arg) n.538C>G c.725C>G (p.Pro242Arg) c.476C>G (p.Pro159Arg) | |
2 | g.199348975G>T | CA350387894 | SATB2 | c.545C>A (p.Pro182His) c.899C>A (p.Pro300His) c.347-76303C>A (n.347-76303C>A) c.553C>A c.722C>A (p.Pro241His) n.538C>A c.725C>A (p.Pro242His) c.476C>A (p.Pro159His) | gnomAD v4 |
2 | g.199348976G>A | CA350387897 | SATB2 | c.544C>T (p.Pro182Ser) c.898C>T (p.Pro300Ser) c.347-76304C>T (n.347-76304C>T) c.552C>T c.721C>T (p.Pro241Ser) n.537C>T c.724C>T (p.Pro242Ser) c.475C>T (p.Pro159Ser) | dbSNP gnomAD v4 |
2 | g.199348976G>C | CA350387896 | SATB2 | c.544C>G (p.Pro182Ala) c.898C>G (p.Pro300Ala) c.347-76304C>G (n.347-76304C>G) c.552C>G c.721C>G (p.Pro241Ala) n.537C>G c.724C>G (p.Pro242Ala) c.475C>G (p.Pro159Ala) | |
2 | g.199348976G= | CA1320151694 | SATB2 | c.544C= (p.Pro182=) c.898C= (p.Pro300=) c.347-76304C= (n.347-76304C=) c.552C= c.721C= (p.Pro241=) n.537C= c.724C= (p.Pro242=) c.475C= (p.Pro159=) | |
2 | g.199348976G>T | CA350387895 | SATB2 | c.544C>A (p.Pro182Thr) c.898C>A (p.Pro300Thr) c.347-76304C>A (n.347-76304C>A) c.552C>A c.721C>A (p.Pro241Thr) n.537C>A c.724C>A (p.Pro242Thr) c.475C>A (p.Pro159Thr) | gnomAD v4 |
2 | g.199348977A= | CA1320151695 | SATB2 | c.543T= (p.Ser181=) c.897T= (p.Ser299=) c.347-76305T= (n.347-76305T=) c.551T= c.720T= (p.Ser240=) n.536T= c.723T= (p.Ser241=) c.474T= (p.Ser158=) | |
2 | g.199348977A>C | CA430835342 | SATB2 | c.543T>G (p.Ser181=) c.897T>G (p.Ser299=) c.347-76305T>G (n.347-76305T>G) c.551T>G c.720T>G (p.Ser240=) n.536T>G c.723T>G (p.Ser241=) c.474T>G (p.Ser158=) | |
2 | g.199348977A>G | CA430835343 | SATB2 | c.543T>C (p.Ser181=) c.897T>C (p.Ser299=) c.347-76305T>C (n.347-76305T>C) c.551T>C c.720T>C (p.Ser240=) n.536T>C c.723T>C (p.Ser241=) c.474T>C (p.Ser158=) | |
2 | g.199348977A>T | CA430835347 | SATB2 | c.543T>A (p.Ser181=) c.897T>A (p.Ser299=) c.347-76305T>A (n.347-76305T>A) c.551T>A c.720T>A (p.Ser240=) n.536T>A c.723T>A (p.Ser241=) c.474T>A (p.Ser158=) | |
2 | g.199348977_199348978insAAACCAAC | CA1320151697 | SATB2 | c.542_543insGTTGGTTT (p.Pro182LeufsTer11) c.896_897insGTTGGTTT (p.Pro300LeufsTer11) c.347-76306_347-76305insGTTGGTTT (n.347-76306_347-76305insGTTGGTTT) c.550_551insGTTGGTTT c.719_720insGTTGGTTT (p.Pro241LeufsTer11) n.535_536insGTTGGTTT c.722_723insGTTGGTTT (p.Pro242LeufsTer11) c.473_474insGTTGGTTT (p.Pro159LeufsTer11) | dbSNP |
2 | g.199348978G>A | CA350387898 | SATB2 | c.542C>T (p.Ser181Phe) c.896C>T (p.Ser299Phe) c.347-76306C>T (n.347-76306C>T) c.550C>T c.719C>T (p.Ser240Phe) n.535C>T c.722C>T (p.Ser241Phe) c.473C>T (p.Ser158Phe) | |
2 | g.199348978G>C | CA350387899 | SATB2 | c.542C>G (p.Ser181Cys) c.896C>G (p.Ser299Cys) c.347-76306C>G (n.347-76306C>G) c.550C>G c.719C>G (p.Ser240Cys) n.535C>G c.722C>G (p.Ser241Cys) c.473C>G (p.Ser158Cys) | COSMIC |
2 | g.199348978G>T | CA350387900 | SATB2 | c.542C>A (p.Ser181Tyr) c.896C>A (p.Ser299Tyr) c.347-76306C>A (n.347-76306C>A) c.550C>A c.719C>A (p.Ser240Tyr) n.535C>A c.722C>A (p.Ser241Tyr) c.473C>A (p.Ser158Tyr) | |
2 | g.199348978_199348979delinsGA | CA1320151696 | SATB2 | c.541_542delinsTC (p.Ser181=) c.895_896delinsTC (p.Ser299=) c.347-76307_347-76306delinsTC (n.347-76307_347-76306delinsTC) c.549_550delinsTC c.718_719delinsTC (p.Ser240=) n.534_535delinsTC c.721_722delinsTC (p.Ser241=) c.472_473delinsTC (p.Ser158=) | |
2 | g.199348979A>C | CA350387901 | SATB2 | c.541T>G (p.Ser181Ala) c.895T>G (p.Ser299Ala) c.347-76307T>G (n.347-76307T>G) c.549T>G c.718T>G (p.Ser240Ala) n.534T>G c.721T>G (p.Ser241Ala) c.472T>G (p.Ser158Ala) | |
2 | g.199348979A>G | CA350387902 | SATB2 | c.541T>C (p.Ser181Pro) c.895T>C (p.Ser299Pro) c.347-76307T>C (n.347-76307T>C) c.549T>C c.718T>C (p.Ser240Pro) n.534T>C c.721T>C (p.Ser241Pro) c.472T>C (p.Ser158Pro) | |
2 | g.199348979A>T | CA350387903 | SATB2 | c.541T>A (p.Ser181Thr) c.895T>A (p.Ser299Thr) c.347-76307T>A (n.347-76307T>A) c.549T>A c.718T>A (p.Ser240Thr) n.534T>A c.721T>A (p.Ser241Thr) c.472T>A (p.Ser158Thr) | |
2 | g.199348981del | CA658657193 | SATB2 | c.541del (p.Ser181LeufsTer9) c.895del (p.Ser299LeufsTer9) c.347-76307del (n.347-76307del) c.549del c.718del (p.Ser240LeufsTer9) n.534del c.721del (p.Ser241LeufsTer9) c.472del (p.Ser158LeufsTer9) | ClinVar dbSNP |
2 | g.199348980A= | CA1320151698 | SATB2 | c.540T= (p.Leu180=) c.894T= (p.Leu298=) c.347-76308T= (n.347-76308T=) c.548T= c.717T= (p.Leu239=) n.533T= c.720T= (p.Leu240=) c.471T= (p.Leu157=) | |
2 | g.199348980A>C | CA430835349 | SATB2 | c.540T>G (p.Leu180=) c.894T>G (p.Leu298=) c.347-76308T>G (n.347-76308T>G) c.548T>G c.717T>G (p.Leu239=) n.533T>G c.720T>G (p.Leu240=) c.471T>G (p.Leu157=) | |
2 | g.199348980A>G | CA430835350 | SATB2 | c.540T>C (p.Leu180=) c.894T>C (p.Leu298=) c.347-76308T>C (n.347-76308T>C) c.548T>C c.717T>C (p.Leu239=) n.533T>C c.720T>C (p.Leu240=) c.471T>C (p.Leu157=) | gnomAD v4 |
2 | g.199348980A>T | CA2045987 | SATB2 | c.540T>A (p.Leu180=) c.894T>A (p.Leu298=) c.347-76308T>A (n.347-76308T>A) c.548T>A c.717T>A (p.Leu239=) n.533T>A c.720T>A (p.Leu240=) c.471T>A (p.Leu157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.199348981A>C | CA350387904 | SATB2 | c.539T>G (p.Leu180Arg) c.893T>G (p.Leu298Arg) c.347-76309T>G (n.347-76309T>G) c.547T>G c.716T>G (p.Leu239Arg) n.532T>G c.719T>G (p.Leu240Arg) c.470T>G (p.Leu157Arg) | |
2 | g.199348981A>G | CA350387905 | SATB2 | c.539T>C (p.Leu180Pro) c.893T>C (p.Leu298Pro) c.347-76309T>C (n.347-76309T>C) c.547T>C c.716T>C (p.Leu239Pro) n.532T>C c.719T>C (p.Leu240Pro) c.470T>C (p.Leu157Pro) | |
2 | g.199348981A>T | CA350387906 | SATB2 | c.539T>A (p.Leu180His) c.893T>A (p.Leu298His) c.347-76309T>A (n.347-76309T>A) c.547T>A c.716T>A (p.Leu239His) n.532T>A c.719T>A (p.Leu240His) c.470T>A (p.Leu157His) | |
2 | g.199348982G>A | CA350387907 | SATB2 | c.538C>T (p.Leu180Phe) c.892C>T (p.Leu298Phe) c.347-76310C>T (n.347-76310C>T) c.546C>T c.715C>T (p.Leu239Phe) n.531C>T c.718C>T (p.Leu240Phe) c.469C>T (p.Leu157Phe) | gnomAD v4 |
2 | g.199348982G>C | CA350387908 | SATB2 | c.538C>G (p.Leu180Val) c.892C>G (p.Leu298Val) c.347-76310C>G (n.347-76310C>G) c.546C>G c.715C>G (p.Leu239Val) n.531C>G c.718C>G (p.Leu240Val) c.469C>G (p.Leu157Val) | |
2 | g.199348982G>T | CA350387909 | SATB2 | c.538C>A (p.Leu180Ile) c.892C>A (p.Leu298Ile) c.347-76310C>A (n.347-76310C>A) c.546C>A c.715C>A (p.Leu239Ile) n.531C>A c.718C>A (p.Leu240Ile) c.469C>A (p.Leu157Ile) | |
2 | g.199348983A>C | CA430835351 | SATB2 | c.537T>G (p.Leu179=) c.891T>G (p.Leu297=) c.347-76311T>G (n.347-76311T>G) c.545T>G c.714T>G (p.Leu238=) n.530T>G c.717T>G (p.Leu239=) c.468T>G (p.Leu156=) | |
2 | g.199348983A>G | CA430835352 | SATB2 | c.537T>C (p.Leu179=) c.891T>C (p.Leu297=) c.347-76311T>C (n.347-76311T>C) c.545T>C c.714T>C (p.Leu238=) n.530T>C c.717T>C (p.Leu239=) c.468T>C (p.Leu156=) | |
2 | g.199348983A>T | CA430835353 | SATB2 | c.537T>A (p.Leu179=) c.891T>A (p.Leu297=) c.347-76311T>A (n.347-76311T>A) c.545T>A c.714T>A (p.Leu238=) n.530T>A c.717T>A (p.Leu239=) c.468T>A (p.Leu156=) | |
2 | g.199348984A>C | CA350387912 | SATB2 | c.536T>G (p.Leu179Arg) c.890T>G (p.Leu297Arg) c.347-76312T>G (n.347-76312T>G) c.544T>G c.713T>G (p.Leu238Arg) n.529T>G c.716T>G (p.Leu239Arg) c.467T>G (p.Leu156Arg) | |
2 | g.199348984A>G | CA350387911 | SATB2 | c.536T>C (p.Leu179Pro) c.890T>C (p.Leu297Pro) c.347-76312T>C (n.347-76312T>C) c.544T>C c.713T>C (p.Leu238Pro) n.529T>C c.716T>C (p.Leu239Pro) c.467T>C (p.Leu156Pro) | |
2 | g.199348984A>T | CA350387910 | SATB2 | c.536T>A (p.Leu179His) c.890T>A (p.Leu297His) c.347-76312T>A (n.347-76312T>A) c.544T>A c.713T>A (p.Leu238His) n.529T>A c.716T>A (p.Leu239His) c.467T>A (p.Leu156His) | |
2 | g.199348985G>A | CA2045988 | SATB2 | c.535C>T (p.Leu179Phe) c.889C>T (p.Leu297Phe) c.347-76313C>T (n.347-76313C>T) c.543C>T c.712C>T (p.Leu238Phe) n.528C>T c.715C>T (p.Leu239Phe) c.466C>T (p.Leu156Phe) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.199348985G>C | CA350387913 | SATB2 | c.535C>G (p.Leu179Val) c.889C>G (p.Leu297Val) c.347-76313C>G (n.347-76313C>G) c.543C>G c.712C>G (p.Leu238Val) n.528C>G c.715C>G (p.Leu239Val) c.466C>G (p.Leu156Val) | dbSNP |
2 | g.199348985G= | CA1320151699 | SATB2 | c.535C= (p.Leu179=) c.889C= (p.Leu297=) c.347-76313C= (n.347-76313C=) c.543C= c.712C= (p.Leu238=) n.528C= c.715C= (p.Leu239=) c.466C= (p.Leu156=) | |
2 | g.199348985G>T | CA350387914 | SATB2 | c.535C>A (p.Leu179Ile) c.889C>A (p.Leu297Ile) c.347-76313C>A (n.347-76313C>A) c.543C>A c.712C>A (p.Leu238Ile) n.528C>A c.715C>A (p.Leu239Ile) c.466C>A (p.Leu156Ile) | gnomAD v4 |
2 | g.199348986A>C | CA430835357 | SATB2 | c.534T>G (p.Gly178=) c.888T>G (p.Gly296=) c.347-76314T>G (n.347-76314T>G) c.542T>G c.711T>G (p.Gly237=) n.527T>G c.714T>G (p.Gly238=) c.465T>G (p.Gly155=) | |
2 | g.199348986A>G | CA430835358 | SATB2 | c.534T>C (p.Gly178=) c.888T>C (p.Gly296=) c.347-76314T>C (n.347-76314T>C) c.542T>C c.711T>C (p.Gly237=) n.527T>C c.714T>C (p.Gly238=) c.465T>C (p.Gly155=) | |
2 | g.199348986A>T | CA430835359 | SATB2 | c.534T>A (p.Gly178=) c.888T>A (p.Gly296=) c.347-76314T>A (n.347-76314T>A) c.542T>A c.711T>A (p.Gly237=) n.527T>A c.714T>A (p.Gly238=) c.465T>A (p.Gly155=) | |
2 | g.199348987C>A | CA350387915 | SATB2 | c.533G>T (p.Gly178Val) c.887G>T (p.Gly296Val) c.347-76315G>T (n.347-76315G>T) c.541G>T c.710G>T (p.Gly237Val) n.526G>T c.713G>T (p.Gly238Val) c.464G>T (p.Gly155Val) | |
2 | g.199348987C>G | CA350387916 | SATB2 | c.533G>C (p.Gly178Ala) c.887G>C (p.Gly296Ala) c.347-76315G>C (n.347-76315G>C) c.541G>C c.710G>C (p.Gly237Ala) n.526G>C c.713G>C (p.Gly238Ala) c.464G>C (p.Gly155Ala) | |
2 | g.199348987C>T | CA350387917 | SATB2 | c.533G>A (p.Gly178Asp) c.887G>A (p.Gly296Asp) c.347-76315G>A (n.347-76315G>A) c.541G>A c.710G>A (p.Gly237Asp) n.526G>A c.713G>A (p.Gly238Asp) c.464G>A (p.Gly155Asp) | |
2 | g.199348988C>A | CA350387918 | SATB2 | c.532G>T (p.Gly178Cys) c.886G>T (p.Gly296Cys) c.347-76316G>T (n.347-76316G>T) c.540G>T c.709G>T (p.Gly237Cys) n.525G>T c.712G>T (p.Gly238Cys) c.463G>T (p.Gly155Cys) | |
2 | g.199348988C>G | CA350387919 | SATB2 | c.532G>C (p.Gly178Arg) c.886G>C (p.Gly296Arg) c.347-76316G>C (n.347-76316G>C) c.540G>C c.709G>C (p.Gly237Arg) n.525G>C c.712G>C (p.Gly238Arg) c.463G>C (p.Gly155Arg) | |
2 | g.199348988C>T | CA350387920 | SATB2 | c.532G>A (p.Gly178Ser) c.886G>A (p.Gly296Ser) c.347-76316G>A (n.347-76316G>A) c.540G>A c.709G>A (p.Gly237Ser) n.525G>A c.712G>A (p.Gly238Ser) c.463G>A (p.Gly155Ser) | gnomAD v4 COSMIC |
2 | g.199348989A= | CA1320151700 | SATB2 | c.531T= (p.Pro177=) c.885T= (p.Pro295=) c.347-76317T= (n.347-76317T=) c.539T= c.708T= (p.Pro236=) n.524T= c.711T= (p.Pro237=) c.462T= (p.Pro154=) | |
2 | g.199348989A>C | CA430835362 | SATB2 | c.531T>G (p.Pro177=) c.885T>G (p.Pro295=) c.347-76317T>G (n.347-76317T>G) c.539T>G c.708T>G (p.Pro236=) n.524T>G c.711T>G (p.Pro237=) c.462T>G (p.Pro154=) | |
2 | g.199348989A>G | CA2045989 | SATB2 | c.531T>C (p.Pro177=) c.885T>C (p.Pro295=) c.347-76317T>C (n.347-76317T>C) c.539T>C c.708T>C (p.Pro236=) n.524T>C c.711T>C (p.Pro237=) c.462T>C (p.Pro154=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.199348989A>T | CA430835365 | SATB2 | c.531T>A (p.Pro177=) c.885T>A (p.Pro295=) c.347-76317T>A (n.347-76317T>A) c.539T>A c.708T>A (p.Pro236=) n.524T>A c.711T>A (p.Pro237=) c.462T>A (p.Pro154=) | |
2 | g.199348990G>A | CA350387921 | SATB2 | c.530C>T (p.Pro177Leu) c.884C>T (p.Pro295Leu) c.347-76318C>T (n.347-76318C>T) c.538C>T c.707C>T (p.Pro236Leu) n.523C>T c.710C>T (p.Pro237Leu) c.461C>T (p.Pro154Leu) | dbSNP |
2 | g.199348990G>C | CA350387922 | SATB2 | c.530C>G (p.Pro177Arg) c.884C>G (p.Pro295Arg) c.347-76318C>G (n.347-76318C>G) c.538C>G c.707C>G (p.Pro236Arg) n.523C>G c.710C>G (p.Pro237Arg) c.461C>G (p.Pro154Arg) | |
2 | g.199348990G= | CA1320151701 | SATB2 | c.530C= (p.Pro177=) c.884C= (p.Pro295=) c.347-76318C= (n.347-76318C=) c.538C= c.707C= (p.Pro236=) n.523C= c.710C= (p.Pro237=) c.461C= (p.Pro154=) | |
2 | g.199348990G>T | CA350387923 | SATB2 | c.530C>A (p.Pro177His) c.884C>A (p.Pro295His) c.347-76318C>A (n.347-76318C>A) c.538C>A c.707C>A (p.Pro236His) n.523C>A c.710C>A (p.Pro237His) c.461C>A (p.Pro154His) | |
2 | g.199348991G>A | CA350387924 | SATB2 | c.529C>T (p.Pro177Ser) c.883C>T (p.Pro295Ser) c.347-76319C>T (n.347-76319C>T) c.537C>T c.706C>T (p.Pro236Ser) n.522C>T c.709C>T (p.Pro237Ser) c.460C>T (p.Pro154Ser) | gnomAD v4 |
2 | g.199348991G>C | CA350387925 | SATB2 | c.529C>G (p.Pro177Ala) c.883C>G (p.Pro295Ala) c.347-76319C>G (n.347-76319C>G) c.537C>G c.706C>G (p.Pro236Ala) n.522C>G c.709C>G (p.Pro237Ala) c.460C>G (p.Pro154Ala) | |
2 | g.199348991G>T | CA350387926 | SATB2 | c.529C>A (p.Pro177Thr) c.883C>A (p.Pro295Thr) c.347-76319C>A (n.347-76319C>A) c.537C>A c.706C>A (p.Pro236Thr) n.522C>A c.709C>A (p.Pro237Thr) c.460C>A (p.Pro154Thr) | |
2 | g.199348992G>A | CA430835367 | SATB2 | c.528C>T (p.Ser176=) c.882C>T (p.Ser294=) c.347-76320C>T (n.347-76320C>T) c.536C>T c.705C>T (p.Ser235=) n.521C>T c.708C>T (p.Ser236=) c.459C>T (p.Ser153=) | |
2 | g.199348992G>C | CA350387928 | SATB2 | c.528C>G (p.Ser176Arg) c.882C>G (p.Ser294Arg) c.347-76320C>G (n.347-76320C>G) c.536C>G c.705C>G (p.Ser235Arg) n.521C>G c.708C>G (p.Ser236Arg) c.459C>G (p.Ser153Arg) | |
2 | g.199348992G>T | CA350387927 | SATB2 | c.528C>A (p.Ser176Arg) c.882C>A (p.Ser294Arg) c.347-76320C>A (n.347-76320C>A) c.536C>A c.705C>A (p.Ser235Arg) n.521C>A c.708C>A (p.Ser236Arg) c.459C>A (p.Ser153Arg) | COSMIC |
2 | g.199348993C>A | CA350387929 | SATB2 | c.527G>T (p.Ser176Ile) c.881G>T (p.Ser294Ile) c.347-76321G>T (n.347-76321G>T) c.535G>T c.704G>T (p.Ser235Ile) n.520G>T c.707G>T (p.Ser236Ile) c.458G>T (p.Ser153Ile) | |
2 | g.199348993C= | CA1320151702 | SATB2 | c.527G= (p.Ser176=) c.881G= (p.Ser294=) c.347-76321G= (n.347-76321G=) c.535G= c.704G= (p.Ser235=) n.520G= c.707G= (p.Ser236=) c.458G= (p.Ser153=) | |
2 | g.199348993C>G | CA350387930 | SATB2 | c.527G>C (p.Ser176Thr) c.881G>C (p.Ser294Thr) c.347-76321G>C (n.347-76321G>C) c.535G>C c.704G>C (p.Ser235Thr) n.520G>C c.707G>C (p.Ser236Thr) c.458G>C (p.Ser153Thr) | |
2 | g.199348993C>T | CA2045990 | SATB2 | c.527G>A (p.Ser176Asn) c.881G>A (p.Ser294Asn) c.347-76321G>A (n.347-76321G>A) c.535G>A c.704G>A (p.Ser235Asn) n.520G>A c.707G>A (p.Ser236Asn) c.458G>A (p.Ser153Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.199348994T>A | CA350387931 | SATB2 | c.526A>T (p.Ser176Cys) c.880A>T (p.Ser294Cys) c.347-76322A>T (n.347-76322A>T) c.534A>T c.703A>T (p.Ser235Cys) n.519A>T c.706A>T (p.Ser236Cys) c.457A>T (p.Ser153Cys) | |
2 | g.199348994T>C | CA350387932 | SATB2 | c.526A>G (p.Ser176Gly) c.880A>G (p.Ser294Gly) c.347-76322A>G (n.347-76322A>G) c.534A>G c.703A>G (p.Ser235Gly) n.519A>G c.706A>G (p.Ser236Gly) c.457A>G (p.Ser153Gly) | |
2 | g.199348994T>G | CA350387933 | SATB2 | c.526A>C (p.Ser176Arg) c.880A>C (p.Ser294Arg) c.347-76322A>C (n.347-76322A>C) c.534A>C c.703A>C (p.Ser235Arg) n.519A>C c.706A>C (p.Ser236Arg) c.457A>C (p.Ser153Arg) | |
2 | g.199348995_199348997dup | CA538919092 | SATB2 | c.524_526dup (p.Met175_Ser176insMet) c.878_880dup (p.Met293_Ser294insMet) c.347-76324_347-76322dup (n.347-76324_347-76322dup) c.532_534dup c.701_703dup (p.Met234_Ser235insMet) n.517_519dup c.704_706dup (p.Met235_Ser236insMet) c.455_457dup (p.Met152_Ser153insMet) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.199348995C>A | CA350387934 | SATB2 | c.525G>T (p.Met175Ile) c.879G>T (p.Met293Ile) c.347-76323G>T (n.347-76323G>T) c.533G>T c.702G>T (p.Met234Ile) n.518G>T c.705G>T (p.Met235Ile) c.456G>T (p.Met152Ile) | |
2 | g.199348995C= | CA1320151703 | SATB2 | c.525G= (p.Met175=) c.879G= (p.Met293=) c.347-76323G= (n.347-76323G=) c.533G= c.702G= (p.Met234=) n.518G= c.705G= (p.Met235=) c.456G= (p.Met152=) | |
2 | g.199348995C>G | CA350387935 | SATB2 | c.525G>C (p.Met175Ile) c.879G>C (p.Met293Ile) c.347-76323G>C (n.347-76323G>C) c.533G>C c.702G>C (p.Met234Ile) n.518G>C c.705G>C (p.Met235Ile) c.456G>C (p.Met152Ile) | |
2 | g.199348995C>T | CA64251729 | SATB2 | c.525G>A (p.Met175Ile) c.879G>A (p.Met293Ile) c.347-76323G>A (n.347-76323G>A) c.533G>A c.702G>A (p.Met234Ile) n.518G>A c.705G>A (p.Met235Ile) c.456G>A (p.Met152Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.199348996A= | CA1320151704 | SATB2 | c.524T= (p.Met175=) c.878T= (p.Met293=) c.347-76324T= (n.347-76324T=) c.532T= c.701T= (p.Met234=) n.517T= c.704T= (p.Met235=) c.455T= (p.Met152=) | |
2 | g.199348996A>C | CA350387936 | SATB2 | c.524T>G (p.Met175Arg) c.878T>G (p.Met293Arg) c.347-76324T>G (n.347-76324T>G) c.532T>G c.701T>G (p.Met234Arg) n.517T>G c.704T>G (p.Met235Arg) c.455T>G (p.Met152Arg) | gnomAD v4 |
2 | g.199348996A>G | CA350387937 | SATB2 | c.524T>C (p.Met175Thr) c.878T>C (p.Met293Thr) c.347-76324T>C (n.347-76324T>C) c.532T>C c.701T>C (p.Met234Thr) n.517T>C c.704T>C (p.Met235Thr) c.455T>C (p.Met152Thr) | dbSNP |
2 | g.199348996A>T | CA350387938 | SATB2 | c.524T>A (p.Met175Lys) c.878T>A (p.Met293Lys) c.347-76324T>A (n.347-76324T>A) c.532T>A c.701T>A (p.Met234Lys) n.517T>A c.704T>A (p.Met235Lys) c.455T>A (p.Met152Lys) | |
2 | g.199348997T>A | CA350387940 | SATB2 | c.523A>T (p.Met175Leu) c.877A>T (p.Met293Leu) c.347-76325A>T (n.347-76325A>T) c.531A>T c.700A>T (p.Met234Leu) n.516A>T c.703A>T (p.Met235Leu) c.454A>T (p.Met152Leu) | |
2 | g.199348997T>C | CA2045991 | SATB2 | c.523A>G (p.Met175Val) c.877A>G (p.Met293Val) c.347-76325A>G (n.347-76325A>G) c.531A>G c.700A>G (p.Met234Val) n.516A>G c.703A>G (p.Met235Val) c.454A>G (p.Met152Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.199348997T>G | CA350387939 | SATB2 | c.523A>C (p.Met175Leu) c.877A>C (p.Met293Leu) c.347-76325A>C (n.347-76325A>C) c.531A>C c.700A>C (p.Met234Leu) n.516A>C c.703A>C (p.Met235Leu) c.454A>C (p.Met152Leu) | |
2 | g.199348997T= | CA1320151705 | SATB2 | c.523A= (p.Met175=) c.877A= (p.Met293=) c.347-76325A= (n.347-76325A=) c.531A= c.700A= (p.Met234=) n.516A= c.703A= (p.Met235=) c.454A= (p.Met152=) | |
2 | g.199348998G>A | CA430835371 | SATB2 | c.522C>T (p.Ile174=) c.876C>T (p.Ile292=) c.347-76326C>T (n.347-76326C>T) c.530C>T c.699C>T (p.Ile233=) n.515C>T c.702C>T (p.Ile234=) c.453C>T (p.Ile151=) | |
2 | g.199348998G>C | CA350387941 | SATB2 | c.522C>G (p.Ile174Met) c.876C>G (p.Ile292Met) c.347-76326C>G (n.347-76326C>G) c.530C>G c.699C>G (p.Ile233Met) n.515C>G c.702C>G (p.Ile234Met) c.453C>G (p.Ile151Met) | |
2 | g.199348998G>T | CA430835370 | SATB2 | c.522C>A (p.Ile174=) c.876C>A (p.Ile292=) c.347-76326C>A (n.347-76326C>A) c.530C>A c.699C>A (p.Ile233=) n.515C>A c.702C>A (p.Ile234=) c.453C>A (p.Ile151=) | |
2 | g.199348999A>C | CA350387942 | SATB2 | c.521T>G (p.Ile174Ser) c.875T>G (p.Ile292Ser) c.347-76327T>G (n.347-76327T>G) c.529T>G c.698T>G (p.Ile233Ser) n.514T>G c.701T>G (p.Ile234Ser) c.452T>G (p.Ile151Ser) | |
2 | g.199348999A>G | CA350387943 | SATB2 | c.521T>C (p.Ile174Thr) c.875T>C (p.Ile292Thr) c.347-76327T>C (n.347-76327T>C) c.529T>C c.698T>C (p.Ile233Thr) n.514T>C c.701T>C (p.Ile234Thr) c.452T>C (p.Ile151Thr) | |
2 | g.199348999A>T | CA350387944 | SATB2 | c.521T>A (p.Ile174Asn) c.875T>A (p.Ile292Asn) c.347-76327T>A (n.347-76327T>A) c.529T>A c.698T>A (p.Ile233Asn) n.514T>A c.701T>A (p.Ile234Asn) c.452T>A (p.Ile151Asn) | |
2 | g.199349000T>A | CA350387945 | SATB2 | c.520A>T (p.Ile174Phe) c.874A>T (p.Ile292Phe) c.347-76328A>T (n.347-76328A>T) c.528A>T c.697A>T (p.Ile233Phe) n.513A>T c.700A>T (p.Ile234Phe) c.451A>T (p.Ile151Phe) | |
2 | g.199349000T>C | CA350387946 | SATB2 | c.520A>G (p.Ile174Val) c.874A>G (p.Ile292Val) c.347-76328A>G (n.347-76328A>G) c.528A>G c.697A>G (p.Ile233Val) n.513A>G c.700A>G (p.Ile234Val) c.451A>G (p.Ile151Val) | gnomAD v4 |
2 | g.199349000T>G | CA350387947 | SATB2 | c.520A>C (p.Ile174Leu) c.874A>C (p.Ile292Leu) c.347-76328A>C (n.347-76328A>C) c.528A>C c.697A>C (p.Ile233Leu) n.513A>C c.700A>C (p.Ile234Leu) c.451A>C (p.Ile151Leu) | ClinVar gnomAD v4 |
2 | g.199349001G>A | CA430835373 | SATB2 | c.519C>T (p.Pro173=) c.873C>T (p.Pro291=) c.347-76329C>T (n.347-76329C>T) c.527C>T c.696C>T (p.Pro232=) n.512C>T c.699C>T (p.Pro233=) c.450C>T (p.Pro150=) | gnomAD v4 |
2 | g.199349001G>C | CA430835375 | SATB2 | c.519C>G (p.Pro173=) c.873C>G (p.Pro291=) c.347-76329C>G (n.347-76329C>G) c.527C>G c.696C>G (p.Pro232=) n.512C>G c.699C>G (p.Pro233=) c.450C>G (p.Pro150=) | |
2 | g.199349001G>T | CA430835374 | SATB2 | c.519C>A (p.Pro173=) c.873C>A (p.Pro291=) c.347-76329C>A (n.347-76329C>A) c.527C>A c.696C>A (p.Pro232=) n.512C>A c.699C>A (p.Pro233=) c.450C>A (p.Pro150=) | |
2 | g.199349002G>A | CA350387948 | SATB2 | c.518C>T (p.Pro173Leu) c.872C>T (p.Pro291Leu) c.347-76330C>T (n.347-76330C>T) c.526C>T c.695C>T (p.Pro232Leu) n.511C>T c.698C>T (p.Pro233Leu) c.449C>T (p.Pro150Leu) | |
2 | g.199349002G>C | CA350387949 | SATB2 | c.518C>G (p.Pro173Arg) c.872C>G (p.Pro291Arg) c.347-76330C>G (n.347-76330C>G) c.526C>G c.695C>G (p.Pro232Arg) n.511C>G c.698C>G (p.Pro233Arg) c.449C>G (p.Pro150Arg) | |
2 | g.199349002G>T | CA350387950 | SATB2 | c.518C>A (p.Pro173His) c.872C>A (p.Pro291His) c.347-76330C>A (n.347-76330C>A) c.526C>A c.695C>A (p.Pro232His) n.511C>A c.698C>A (p.Pro233His) c.449C>A (p.Pro150His) | |
2 | g.199349003G>A | CA350387951 | SATB2 | c.517C>T (p.Pro173Ser) c.871C>T (p.Pro291Ser) c.347-76331C>T (n.347-76331C>T) c.525C>T c.694C>T (p.Pro232Ser) n.510C>T c.697C>T (p.Pro233Ser) c.448C>T (p.Pro150Ser) | gnomAD v4 |
2 | g.199349003G>C | CA350387952 | SATB2 | c.517C>G (p.Pro173Ala) c.871C>G (p.Pro291Ala) c.347-76331C>G (n.347-76331C>G) c.525C>G c.694C>G (p.Pro232Ala) n.510C>G c.697C>G (p.Pro233Ala) c.448C>G (p.Pro150Ala) | |
2 | g.199349003G>T | CA350387953 | SATB2 | c.517C>A (p.Pro173Thr) c.871C>A (p.Pro291Thr) c.347-76331C>A (n.347-76331C>A) c.525C>A c.694C>A (p.Pro232Thr) n.510C>A c.697C>A (p.Pro233Thr) c.448C>A (p.Pro150Thr) | |
2 | g.199349004C>A | CA350387955 | SATB2 | c.516G>T (p.Gln172His) c.870G>T (p.Gln290His) c.347-76332G>T (n.347-76332G>T) c.524G>T c.693G>T (p.Gln231His) n.509G>T c.696G>T (p.Gln232His) c.447G>T (p.Gln149His) | |
2 | g.199349004C= | CA1320151706 | SATB2 | c.516G= (p.Gln172=) c.870G= (p.Gln290=) c.347-76332G= (n.347-76332G=) c.524G= c.693G= (p.Gln231=) n.509G= c.696G= (p.Gln232=) c.447G= (p.Gln149=) | |
2 | g.199349004C>G | CA350387954 | SATB2 | c.516G>C (p.Gln172His) c.870G>C (p.Gln290His) c.347-76332G>C (n.347-76332G>C) c.524G>C c.693G>C (p.Gln231His) n.509G>C c.696G>C (p.Gln232His) c.447G>C (p.Gln149His) | |
2 | g.199349004C>T | CA430835378 | SATB2 | c.516G>A (p.Gln172=) c.870G>A (p.Gln290=) c.347-76332G>A (n.347-76332G>A) c.524G>A c.693G>A (p.Gln231=) n.509G>A c.696G>A (p.Gln232=) c.447G>A (p.Gln149=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.199349005T>A | CA350387956 | SATB2 | c.515A>T (p.Gln172Leu) c.869A>T (p.Gln290Leu) c.347-76333A>T (n.347-76333A>T) c.523A>T c.692A>T (p.Gln231Leu) n.508A>T c.695A>T (p.Gln232Leu) c.446A>T (p.Gln149Leu) | COSMIC |
2 | g.199349005T>C | CA350387957 | SATB2 | c.515A>G (p.Gln172Arg) c.869A>G (p.Gln290Arg) c.347-76333A>G (n.347-76333A>G) c.523A>G c.692A>G (p.Gln231Arg) n.508A>G c.695A>G (p.Gln232Arg) c.446A>G (p.Gln149Arg) | |
2 | g.199349005T>G | CA350387958 | SATB2 | c.515A>C (p.Gln172Pro) c.869A>C (p.Gln290Pro) c.347-76333A>C (n.347-76333A>C) c.523A>C c.692A>C (p.Gln231Pro) n.508A>C c.695A>C (p.Gln232Pro) c.446A>C (p.Gln149Pro) | |
2 | g.199349006G>A | CA16042461 | SATB2 | c.514C>T (p.Gln172Ter) c.868C>T (p.Gln290Ter) c.347-76334C>T (n.347-76334C>T) c.522C>T c.691C>T (p.Gln231Ter) n.507C>T c.694C>T (p.Gln232Ter) c.445C>T (p.Gln149Ter) | ClinVar dbSNP |
2 | g.199349006G>C | CA350387959 | SATB2 | c.514C>G (p.Gln172Glu) c.868C>G (p.Gln290Glu) c.347-76334C>G (n.347-76334C>G) c.522C>G c.691C>G (p.Gln231Glu) n.507C>G c.694C>G (p.Gln232Glu) c.445C>G (p.Gln149Glu) | |
2 | g.199349006G= | CA1320151707 | SATB2 | c.514C= (p.Gln172=) c.868C= (p.Gln290=) c.347-76334C= (n.347-76334C=) c.522C= c.691C= (p.Gln231=) n.507C= c.694C= (p.Gln232=) c.445C= (p.Gln149=) | |
2 | g.199349006G>T | CA350387960 | SATB2 | c.514C>A (p.Gln172Lys) c.868C>A (p.Gln290Lys) c.347-76334C>A (n.347-76334C>A) c.522C>A c.691C>A (p.Gln231Lys) n.507C>A c.694C>A (p.Gln232Lys) c.445C>A (p.Gln149Lys) | |
2 | g.199349007del | CA2525997083 | SATB2 | c.513del (p.Leu171PhefsTer5) c.867del (p.Leu289PhefsTer5) c.347-76335del (n.347-76335del) c.521del c.690del (p.Leu230PhefsTer5) n.506del c.693del (p.Leu231PhefsTer5) c.444del (p.Leu148PhefsTer5) | |
2 | g.199349007T>A | CA350387961 | SATB2 | c.513A>T (p.Leu171Phe) c.867A>T (p.Leu289Phe) c.347-76335A>T (n.347-76335A>T) c.521A>T c.690A>T (p.Leu230Phe) n.506A>T c.693A>T (p.Leu231Phe) c.444A>T (p.Leu148Phe) | |
2 | g.199349007T>C | CA2045992 | SATB2 | c.513A>G (p.Leu171=) c.867A>G (p.Leu289=) c.347-76335A>G (n.347-76335A>G) c.521A>G c.690A>G (p.Leu230=) n.506A>G c.693A>G (p.Leu231=) c.444A>G (p.Leu148=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.199349007T>G | CA350387962 | SATB2 | c.513A>C (p.Leu171Phe) c.867A>C (p.Leu289Phe) c.347-76335A>C (n.347-76335A>C) c.521A>C c.690A>C (p.Leu230Phe) n.506A>C c.693A>C (p.Leu231Phe) c.444A>C (p.Leu148Phe) | |
2 | g.199349007T= | CA1320151708 | SATB2 | c.513A= (p.Leu171=) c.867A= (p.Leu289=) c.347-76335A= (n.347-76335A=) c.521A= c.690A= (p.Leu230=) n.506A= c.693A= (p.Leu231=) c.444A= (p.Leu148=) | |
2 | g.199349008A>C | CA350387963 | SATB2 | c.512T>G (p.Leu171Ter) c.866T>G (p.Leu289Ter) c.347-76336T>G (n.347-76336T>G) c.520T>G c.689T>G (p.Leu230Ter) n.505T>G c.692T>G (p.Leu231Ter) c.443T>G (p.Leu148Ter) | ClinVar |
2 | g.199349008A>G | CA350387964 | SATB2 | c.512T>C (p.Leu171Ser) c.866T>C (p.Leu289Ser) c.347-76336T>C (n.347-76336T>C) c.520T>C c.689T>C (p.Leu230Ser) n.505T>C c.692T>C (p.Leu231Ser) c.443T>C (p.Leu148Ser) | |
2 | g.199349008A>T | CA350387965 | SATB2 | c.512T>A (p.Leu171Ter) c.866T>A (p.Leu289Ter) c.347-76336T>A (n.347-76336T>A) c.520T>A c.689T>A (p.Leu230Ter) n.505T>A c.692T>A (p.Leu231Ter) c.443T>A (p.Leu148Ter) | |
2 | g.199349009A>C | CA350387966 | SATB2 | c.511T>G (p.Leu171Val) c.865T>G (p.Leu289Val) c.347-76337T>G (n.347-76337T>G) c.519T>G c.688T>G (p.Leu230Val) n.504T>G c.691T>G (p.Leu231Val) c.442T>G (p.Leu148Val) | |
2 | g.199349009A>G | CA430835380 | SATB2 | c.511T>C (p.Leu171=) c.865T>C (p.Leu289=) c.347-76337T>C (n.347-76337T>C) c.519T>C c.688T>C (p.Leu230=) n.504T>C c.691T>C (p.Leu231=) c.442T>C (p.Leu148=) | |
2 | g.199349009A>T | CA350387967 | SATB2 | c.511T>A (p.Leu171Ile) c.865T>A (p.Leu289Ile) c.347-76337T>A (n.347-76337T>A) c.519T>A c.688T>A (p.Leu230Ile) n.504T>A c.691T>A (p.Leu231Ile) c.442T>A (p.Leu148Ile) | |
2 | g.199349010T>A | CA430835381 | SATB2 | c.510A>T (p.Ala170=) c.864A>T (p.Ala288=) c.347-76338A>T (n.347-76338A>T) c.518A>T c.687A>T (p.Ala229=) n.503A>T c.690A>T (p.Ala230=) c.441A>T (p.Ala147=) | |
2 | g.199349010T>C | CA430835382 | SATB2 | c.510A>G (p.Ala170=) c.864A>G (p.Ala288=) c.347-76338A>G (n.347-76338A>G) c.518A>G c.687A>G (p.Ala229=) n.503A>G c.690A>G (p.Ala230=) c.441A>G (p.Ala147=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.199349010T>G | CA430835383 | SATB2 | c.510A>C (p.Ala170=) c.864A>C (p.Ala288=) c.347-76338A>C (n.347-76338A>C) c.518A>C c.687A>C (p.Ala229=) n.503A>C c.690A>C (p.Ala230=) c.441A>C (p.Ala147=) | |
2 | g.199349010T= | CA1320151709 | SATB2 | c.510A= (p.Ala170=) c.864A= (p.Ala288=) c.347-76338A= (n.347-76338A=) c.518A= c.687A= (p.Ala229=) n.503A= c.690A= (p.Ala230=) c.441A= (p.Ala147=) | |
2 | g.199349011del | CA2547993245 | SATB2 | c.509del (p.Ala170AspfsTer6) c.863del (p.Ala288AspfsTer6) c.347-76339del (n.347-76339del) c.517del c.686del (p.Ala229AspfsTer6) n.502del c.689del (p.Ala230AspfsTer6) c.440del (p.Ala147AspfsTer6) | |
2 | g.199349011G>A | CA350387969 | SATB2 | c.509C>T (p.Ala170Val) c.863C>T (p.Ala288Val) c.347-76339C>T (n.347-76339C>T) c.517C>T c.686C>T (p.Ala229Val) n.502C>T c.689C>T (p.Ala230Val) c.440C>T (p.Ala147Val) | |
2 | g.199349011G>C | CA350387970 | SATB2 | c.509C>G (p.Ala170Gly) c.863C>G (p.Ala288Gly) c.347-76339C>G (n.347-76339C>G) c.517C>G c.686C>G (p.Ala229Gly) n.502C>G c.689C>G (p.Ala230Gly) c.440C>G (p.Ala147Gly) | |
2 | g.199349011G>T | CA350387968 | SATB2 | c.509C>A (p.Ala170Glu) c.863C>A (p.Ala288Glu) c.347-76339C>A (n.347-76339C>A) c.517C>A c.686C>A (p.Ala229Glu) n.502C>A c.689C>A (p.Ala230Glu) c.440C>A (p.Ala147Glu) | |
2 | g.199349012C>A | CA350387971 | SATB2 | c.508G>T (p.Ala170Ser) c.862G>T (p.Ala288Ser) c.347-76340G>T (n.347-76340G>T) c.516G>T c.685G>T (p.Ala229Ser) n.501G>T c.688G>T (p.Ala230Ser) c.439G>T (p.Ala147Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.199349012C= | CA1320151710 | SATB2 | c.508G= (p.Ala170=) c.862G= (p.Ala288=) c.347-76340G= (n.347-76340G=) c.516G= c.685G= (p.Ala229=) n.501G= c.688G= (p.Ala230=) c.439G= (p.Ala147=) | |
2 | g.199349012C>G | CA350387972 | SATB2 | c.508G>C (p.Ala170Pro) c.862G>C (p.Ala288Pro) c.347-76340G>C (n.347-76340G>C) c.516G>C c.685G>C (p.Ala229Pro) n.501G>C c.688G>C (p.Ala230Pro) c.439G>C (p.Ala147Pro) | |
2 | g.199349012C>T | CA2045993 | SATB2 | c.508G>A (p.Ala170Thr) c.862G>A (p.Ala288Thr) c.347-76340G>A (n.347-76340G>A) c.516G>A c.685G>A (p.Ala229Thr) n.501G>A c.688G>A (p.Ala230Thr) c.439G>A (p.Ala147Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.199349013G>A | CA2045994 | SATB2 | c.507C>T (p.Pro169=) c.861C>T (p.Pro287=) c.347-76341C>T (n.347-76341C>T) c.515C>T c.684C>T (p.Pro228=) n.500C>T c.687C>T (p.Pro229=) c.438C>T (p.Pro146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.199349013G>C | CA430835385 | SATB2 | c.507C>G (p.Pro169=) c.861C>G (p.Pro287=) c.347-76341C>G (n.347-76341C>G) c.515C>G c.684C>G (p.Pro228=) n.500C>G c.687C>G (p.Pro229=) c.438C>G (p.Pro146=) | dbSNP |
2 | g.199349013G= | CA1320151711 | SATB2 | c.507C= (p.Pro169=) c.861C= (p.Pro287=) c.347-76341C= (n.347-76341C=) c.515C= c.684C= (p.Pro228=) n.500C= c.687C= (p.Pro229=) c.438C= (p.Pro146=) | |
2 | g.199349013G>T | CA430835386 | SATB2 | c.507C>A (p.Pro169=) c.861C>A (p.Pro287=) c.347-76341C>A (n.347-76341C>A) c.515C>A c.684C>A (p.Pro228=) n.500C>A c.687C>A (p.Pro229=) c.438C>A (p.Pro146=) | |
2 | g.199349013_199349014insTT | CA2556791152 | SATB2 | c.506_507insAA (p.Ala170ThrfsTer7) c.860_861insAA (p.Ala288ThrfsTer7) c.347-76342_347-76341insAA (n.347-76342_347-76341insAA) c.514_515insAA c.683_684insAA (p.Ala229ThrfsTer7) n.499_500insAA c.686_687insAA (p.Ala230ThrfsTer7) c.437_438insAA (p.Ala147ThrfsTer7) | |
2 | g.199349014G>A | CA350387975 | SATB2 | c.506C>T (p.Pro169Leu) c.860C>T (p.Pro287Leu) c.347-76342C>T (n.347-76342C>T) c.514C>T c.683C>T (p.Pro228Leu) n.499C>T c.686C>T (p.Pro229Leu) c.437C>T (p.Pro146Leu) | |
2 | g.199349014G>C | CA350387973 | SATB2 | c.506C>G (p.Pro169Arg) c.860C>G (p.Pro287Arg) c.347-76342C>G (n.347-76342C>G) c.514C>G c.683C>G (p.Pro228Arg) n.499C>G c.686C>G (p.Pro229Arg) c.437C>G (p.Pro146Arg) | |
2 | g.199349014G>T | CA350387974 | SATB2 | c.506C>A (p.Pro169His) c.860C>A (p.Pro287His) c.347-76342C>A (n.347-76342C>A) c.514C>A c.683C>A (p.Pro228His) n.499C>A c.686C>A (p.Pro229His) c.437C>A (p.Pro146His) | |
2 | g.199349015G>A | CA2045995 | SATB2 | c.505C>T (p.Pro169Ser) c.859C>T (p.Pro287Ser) c.347-76343C>T (n.347-76343C>T) c.513C>T c.682C>T (p.Pro228Ser) n.498C>T c.685C>T (p.Pro229Ser) c.436C>T (p.Pro146Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.199349015G>C | CA350387976 | SATB2 | c.505C>G (p.Pro169Ala) c.859C>G (p.Pro287Ala) c.347-76343C>G (n.347-76343C>G) c.513C>G c.682C>G (p.Pro228Ala) n.498C>G c.685C>G (p.Pro229Ala) c.436C>G (p.Pro146Ala) | |
2 | g.199349015G= | CA1320151712 | SATB2 | c.505C= (p.Pro169=) c.859C= (p.Pro287=) c.347-76343C= (n.347-76343C=) c.513C= c.682C= (p.Pro228=) n.498C= c.685C= (p.Pro229=) c.436C= (p.Pro146=) | |
2 | g.199349015G>T | CA350387977 | SATB2 | c.505C>A (p.Pro169Thr) c.859C>A (p.Pro287Thr) c.347-76343C>A (n.347-76343C>A) c.513C>A c.682C>A (p.Pro228Thr) n.498C>A c.685C>A (p.Pro229Thr) c.436C>A (p.Pro146Thr) | gnomAD v4 |
2 | g.199349016C>A | CA2045996 | SATB2 | c.504G>T (p.Val168=) c.858G>T (p.Val286=) c.347-76344G>T (n.347-76344G>T) c.512G>T c.681G>T (p.Val227=) n.497G>T c.684G>T (p.Val228=) c.435G>T (p.Val145=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.199349016C= | CA1320151713 | SATB2 | c.504G= (p.Val168=) c.858G= (p.Val286=) c.347-76344G= (n.347-76344G=) c.512G= c.681G= (p.Val227=) n.497G= c.684G= (p.Val228=) c.435G= (p.Val145=) | |
2 | g.199349016C>G | CA430835389 | SATB2 | c.504G>C (p.Val168=) c.858G>C (p.Val286=) c.347-76344G>C (n.347-76344G>C) c.512G>C c.681G>C (p.Val227=) n.497G>C c.684G>C (p.Val228=) c.435G>C (p.Val145=) | |
2 | g.199349016C>T | CA430835388 | SATB2 | c.504G>A (p.Val168=) c.858G>A (p.Val286=) c.347-76344G>A (n.347-76344G>A) c.512G>A c.681G>A (p.Val227=) n.497G>A c.684G>A (p.Val228=) c.435G>A (p.Val145=) |