Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.199348909G>ACA350387733SATB2c.611C>T (p.Ala204Val)
c.965C>T (p.Ala322Val)
c.347-76237C>T (n.347-76237C>T)
c.619C>T
c.788C>T (p.Ala263Val)
n.604C>T
c.791C>T (p.Ala264Val)
c.542C>T (p.Ala181Val)
 gnomAD v4
2g.199348909G>CCA350387735SATB2c.611C>G (p.Ala204Gly)
c.965C>G (p.Ala322Gly)
c.347-76237C>G (n.347-76237C>G)
c.619C>G
c.788C>G (p.Ala263Gly)
n.604C>G
c.791C>G (p.Ala264Gly)
c.542C>G (p.Ala181Gly)
2g.199348909G>TCA350387736SATB2c.611C>A (p.Ala204Asp)
c.965C>A (p.Ala322Asp)
c.347-76237C>A (n.347-76237C>A)
c.619C>A
c.788C>A (p.Ala263Asp)
n.604C>A
c.791C>A (p.Ala264Asp)
c.542C>A (p.Ala181Asp)
2g.199348910C>ACA350387742SATB2c.610G>T (p.Ala204Ser)
c.964G>T (p.Ala322Ser)
c.347-76238G>T (n.347-76238G>T)
c.618G>T
c.787G>T (p.Ala263Ser)
n.603G>T
c.790G>T (p.Ala264Ser)
c.541G>T (p.Ala181Ser)
2g.199348910C>GCA350387739SATB2c.610G>C (p.Ala204Pro)
c.964G>C (p.Ala322Pro)
c.347-76238G>C (n.347-76238G>C)
c.618G>C
c.787G>C (p.Ala263Pro)
n.603G>C
c.790G>C (p.Ala264Pro)
c.541G>C (p.Ala181Pro)
2g.199348910C>TCA350387740SATB2c.610G>A (p.Ala204Thr)
c.964G>A (p.Ala322Thr)
c.347-76238G>A (n.347-76238G>A)
c.618G>A
c.787G>A (p.Ala263Thr)
n.603G>A
c.790G>A (p.Ala264Thr)
c.541G>A (p.Ala181Thr)
2g.199348911A>CCA350387743SATB2c.609T>G (p.Ile203Met)
c.963T>G (p.Ile321Met)
c.347-76239T>G (n.347-76239T>G)
c.617T>G
c.786T>G (p.Ile262Met)
n.602T>G
c.789T>G (p.Ile263Met)
c.540T>G (p.Ile180Met)
2g.199348911A>GCA430835273SATB2c.609T>C (p.Ile203=)
c.963T>C (p.Ile321=)
c.347-76239T>C (n.347-76239T>C)
c.617T>C
c.786T>C (p.Ile262=)
n.602T>C
c.789T>C (p.Ile263=)
c.540T>C (p.Ile180=)
2g.199348911A>TCA430835272SATB2c.609T>A (p.Ile203=)
c.963T>A (p.Ile321=)
c.347-76239T>A (n.347-76239T>A)
c.617T>A
c.786T>A (p.Ile262=)
n.602T>A
c.789T>A (p.Ile263=)
c.540T>A (p.Ile180=)
2g.199348912A=CA1320151679SATB2c.608T= (p.Ile203=)
c.962T= (p.Ile321=)
c.347-76240T= (n.347-76240T=)
c.616T=
c.785T= (p.Ile262=)
n.601T=
c.788T= (p.Ile263=)
c.539T= (p.Ile180=)
2g.199348912A>CCA350387744SATB2c.608T>G (p.Ile203Ser)
c.962T>G (p.Ile321Ser)
c.347-76240T>G (n.347-76240T>G)
c.616T>G
c.785T>G (p.Ile262Ser)
n.601T>G
c.788T>G (p.Ile263Ser)
c.539T>G (p.Ile180Ser)
2g.199348912A>GCA350387745SATB2c.608T>C (p.Ile203Thr)
c.962T>C (p.Ile321Thr)
c.347-76240T>C (n.347-76240T>C)
c.616T>C
c.785T>C (p.Ile262Thr)
n.601T>C
c.788T>C (p.Ile263Thr)
c.539T>C (p.Ile180Thr)
 gnomAD v4
2g.199348912A>TCA350387746SATB2c.608T>A (p.Ile203Asn)
c.962T>A (p.Ile321Asn)
c.347-76240T>A (n.347-76240T>A)
c.616T>A
c.785T>A (p.Ile262Asn)
n.601T>A
c.788T>A (p.Ile263Asn)
c.539T>A (p.Ile180Asn)
2g.199348912_199348913insGCA1320151680SATB2c.607_608insC (p.Ile203ThrfsTer4)
c.961_962insC (p.Ile321ThrfsTer4)
c.347-76241_347-76240insC (n.347-76241_347-76240insC)
c.615_616insC
c.784_785insC (p.Ile262ThrfsTer4)
n.600_601insC
c.787_788insC (p.Ile263ThrfsTer4)
c.538_539insC (p.Ile180ThrfsTer4)
 dbSNP
2g.199348913T>ACA350387747SATB2c.607A>T (p.Ile203Phe)
c.961A>T (p.Ile321Phe)
c.347-76241A>T (n.347-76241A>T)
c.615A>T
c.784A>T (p.Ile262Phe)
n.600A>T
c.787A>T (p.Ile263Phe)
c.538A>T (p.Ile180Phe)
2g.199348913T>CCA350387748SATB2c.607A>G (p.Ile203Val)
c.961A>G (p.Ile321Val)
c.347-76241A>G (n.347-76241A>G)
c.615A>G
c.784A>G (p.Ile262Val)
n.600A>G
c.787A>G (p.Ile263Val)
c.538A>G (p.Ile180Val)
2g.199348913T>GCA350387749SATB2c.607A>C (p.Ile203Leu)
c.961A>C (p.Ile321Leu)
c.347-76241A>C (n.347-76241A>C)
c.615A>C
c.784A>C (p.Ile262Leu)
n.600A>C
c.787A>C (p.Ile263Leu)
c.538A>C (p.Ile180Leu)
2g.199348914C>ACA350387750SATB2c.606G>T (p.Gln202His)
c.960G>T (p.Gln320His)
c.347-76242G>T (n.347-76242G>T)
c.614G>T
c.783G>T (p.Gln261His)
n.599G>T
c.786G>T (p.Gln262His)
c.537G>T (p.Gln179His)
 dbSNP gnomAD v2
2g.199348914C=CA1320151681SATB2c.606G= (p.Gln202=)
c.960G= (p.Gln320=)
c.347-76242G= (n.347-76242G=)
c.614G=
c.783G= (p.Gln261=)
n.599G=
c.786G= (p.Gln262=)
c.537G= (p.Gln179=)
2g.199348914C>GCA350387751SATB2c.606G>C (p.Gln202His)
c.960G>C (p.Gln320His)
c.347-76242G>C (n.347-76242G>C)
c.614G>C
c.783G>C (p.Gln261His)
n.599G>C
c.786G>C (p.Gln262His)
c.537G>C (p.Gln179His)
2g.199348914C>TCA430835275SATB2c.606G>A (p.Gln202=)
c.960G>A (p.Gln320=)
c.347-76242G>A (n.347-76242G>A)
c.614G>A
c.783G>A (p.Gln261=)
n.599G>A
c.786G>A (p.Gln262=)
c.537G>A (p.Gln179=)
2g.199348915T>ACA350387752SATB2c.605A>T (p.Gln202Leu)
c.959A>T (p.Gln320Leu)
c.347-76243A>T (n.347-76243A>T)
c.613A>T
c.782A>T (p.Gln261Leu)
n.598A>T
c.785A>T (p.Gln262Leu)
c.536A>T (p.Gln179Leu)
2g.199348915T>CCA350387753SATB2c.605A>G (p.Gln202Arg)
c.959A>G (p.Gln320Arg)
c.347-76243A>G (n.347-76243A>G)
c.613A>G
c.782A>G (p.Gln261Arg)
n.598A>G
c.785A>G (p.Gln262Arg)
c.536A>G (p.Gln179Arg)
2g.199348915T>GCA350387754SATB2c.605A>C (p.Gln202Pro)
c.959A>C (p.Gln320Pro)
c.347-76243A>C (n.347-76243A>C)
c.613A>C
c.782A>C (p.Gln261Pro)
n.598A>C
c.785A>C (p.Gln262Pro)
c.536A>C (p.Gln179Pro)
2g.199348916G>ACA350387757SATB2c.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)
2g.199348916G>CCA350387756SATB2c.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)
2g.199348916G>TCA350387755SATB2c.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)
2g.199348917T>ACA350387759SATB2c.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)
2g.199348917T>CCA430835277SATB2c.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
2g.199348917T>GCA350387758SATB2c.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)
2g.199348918T>ACA350387760SATB2c.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)
2g.199348918T>CCA350387761SATB2c.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)
2g.199348918T>GCA350387762SATB2c.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)
2g.199348919G>ACA350387763SATB2c.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
2g.199348919G>CCA350387764SATB2c.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)
2g.199348919G>TCA350387765SATB2c.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)
2g.199348920delCA2662538444SATB2c.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
2g.199348920G>ACA430835278SATB2c.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
2g.199348920G>CCA350387766SATB2c.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)
2g.199348920G>TCA350387767SATB2c.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)
2g.199348921T>ACA350387768SATB2c.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)
2g.199348921T>CCA350387769SATB2c.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)
2g.199348921T>GCA350387770SATB2c.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)
2g.199348922T>ACA350387772SATB2c.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)
2g.199348922T>CCA350387773SATB2c.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)
2g.199348922T>GCA350387771SATB2c.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)
2g.199348923T>ACA430835282SATB2c.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=)
2g.199348923T>CCA350387774SATB2c.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)
2g.199348923T>GCA430835283SATB2c.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=)
2g.199348924A>CCA350387775SATB2c.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)
2g.199348924A>GCA350387776SATB2c.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)
2g.199348924A>TCA350387777SATB2c.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)
2g.199348925T>ACA350387780SATB2c.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)
2g.199348925T>CCA350387779SATB2c.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)
2g.199348925T>GCA350387778SATB2c.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)
2g.199348926C>ACA430835289SATB2c.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=)
2g.199348926C>GCA430835286SATB2c.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=)
2g.199348926C>TCA430835288SATB2c.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
2g.199348927A>CCA350387781SATB2c.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)
2g.199348927A>GCA350387782SATB2c.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)
2g.199348927A>TCA350387783SATB2c.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)
2g.199348928G>ACA64251728SATB2c.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
2g.199348928G>CCA350387784SATB2c.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)
2g.199348928G=CA1320151682SATB2c.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=)
2g.199348928G>TCA350387785SATB2c.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)
2g.199348929A>CCA350387786SATB2c.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)
2g.199348929A>GCA430835290SATB2c.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=)
2g.199348929A>TCA350387787SATB2c.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)
2g.199348930T>ACA350387789SATB2c.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)
2g.199348930T>CCA350387790SATB2c.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)
2g.199348930T>GCA350387788SATB2c.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)
2g.199348931G>ACA350387791SATB2c.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)
2g.199348931G>CCA350387792SATB2c.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)
2g.199348931G>TCA350387793SATB2c.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)
2g.199348932G>ACA2045983SATB2c.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
2g.199348932G>CCA430835293SATB2c.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
2g.199348932G=CA1320151683SATB2c.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=)
2g.199348932G>TCA430835292SATB2c.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=)
2g.199348933G>ACA350387794SATB2c.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)
2g.199348933G>CCA350387795SATB2c.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)
2g.199348933G>TCA350387796SATB2c.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)
2g.199348934C>ACA350387797SATB2c.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)
2g.199348934C>GCA350387798SATB2c.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)
2g.199348934C>TCA350387799SATB2c.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
2g.199348935C>ACA350387800SATB2c.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
2g.199348935C>GCA350387801SATB2c.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)
2g.199348935C>TCA350387802SATB2c.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)
2g.199348936A>CCA350387805SATB2c.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)
2g.199348936A>GCA350387804SATB2c.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
2g.199348936A>TCA350387803SATB2c.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)
2g.199348937T>ACA350387806SATB2c.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)
2g.199348937T>CCA350387807SATB2c.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)
2g.199348937T>GCA350387808SATB2c.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)
2g.199348938G>ACA2045984SATB2c.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
2g.199348938G>CCA430835299SATB2c.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=)
2g.199348938G=CA1320151684SATB2c.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=)
2g.199348938G>TCA430835298SATB2c.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=)
2g.199348939G>ACA2045985SATB2c.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
2g.199348939G>CCA350387809SATB2c.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)
2g.199348939G=CA1320151685SATB2c.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=)
2g.199348939G>TCA350387810SATB2c.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)
2g.199348940C>ACA350387811SATB2c.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)
2g.199348940C>GCA350387812SATB2c.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)
2g.199348940C>TCA350387813SATB2c.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)
2g.199348941T>ACA430835301SATB2c.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=)
2g.199348941T>CCA350387814SATB2c.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)
2g.199348941T>GCA430835302SATB2c.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=)
2g.199348942A>CCA350387815SATB2c.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)
2g.199348942A>GCA350387816SATB2c.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)
2g.199348942A>TCA350387817SATB2c.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)
2g.199348943T>ACA350387819SATB2c.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)
2g.199348943T>CCA350387820SATB2c.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)
2g.199348943T>GCA350387818SATB2c.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)
2g.199348944T>ACA350387821SATB2c.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)
2g.199348944T>CCA430835306SATB2c.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
2g.199348944T>GCA350387822SATB2c.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)
2g.199348944_199348945insGTTGCCTTACAACA2586970964SATB2c.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)
2g.199348945T>ACA350387823SATB2c.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)
2g.199348945T>CCA350387824SATB2c.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)
2g.199348945T>GCA350387825SATB2c.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)
2g.199348946G>ACA350387826SATB2c.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)
2g.199348946G>CCA350387827SATB2c.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)
2g.199348946G>TCA350387828SATB2c.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)
2g.199348950_199348961dupCA2739292308SATB2c.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)
2g.199348947T>ACA350387829SATB2c.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)
2g.199348947T>CCA430835308SATB2c.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
2g.199348947T>GCA350387830SATB2c.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
2g.199348947T=CA1320151686SATB2c.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=)
2g.199348948T>ACA350387831SATB2c.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)
2g.199348948T>CCA350387832SATB2c.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)
2g.199348948T>GCA350387833SATB2c.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)
2g.199348949G>ACA350387834SATB2c.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
2g.199348949G>CCA350387836SATB2c.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)
2g.199348949G=CA1320151687SATB2c.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=)
2g.199348949G>TCA350387835SATB2c.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)
2g.199348950C>ACA350387837SATB2c.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)
2g.199348950C>GCA350387838SATB2c.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)
2g.199348950C>TCA430835311SATB2c.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=)
2g.199348951C>ACA350387839SATB2c.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)
2g.199348951C>GCA350387840SATB2c.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)
2g.199348951C>TCA350387841SATB2c.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)
2g.199348952T>ACA350387842SATB2c.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)
2g.199348952T>CCA350387843SATB2c.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
2g.199348952T>GCA430835314SATB2c.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=)
2g.199348953T>ACA430835315SATB2c.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=)
2g.199348953T>CCA430835316SATB2c.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=)
2g.199348953T>GCA430835317SATB2c.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=)
2g.199348954A>CCA350387844SATB2c.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)
2g.199348954A>GCA350387845SATB2c.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)
2g.199348954A>TCA350387846SATB2c.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)
2g.199348955C>ACA350387849SATB2c.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)
2g.199348955C>GCA350387848SATB2c.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)
2g.199348955C>TCA350387847SATB2c.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)
2g.199348956A>CCA430835321SATB2c.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=)
2g.199348956A>GCA430835322SATB2c.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=)
2g.199348956A>TCA430835323SATB2c.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=)
2g.199348957A=CA1320151688SATB2c.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=)
2g.199348957A>CCA350387850SATB2c.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)
2g.199348957A>GCA350387852SATB2c.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)
2g.199348957A>TCA350387851SATB2c.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
2g.199348958G>ACA350387853SATB2c.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
2g.199348958G>CCA350387854SATB2c.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)
2g.199348958G=CA1320151689SATB2c.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=)
2g.199348958G>TCA350387855SATB2c.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
2g.199348959T>ACA350387856SATB2c.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)
2g.199348959T>CCA430835324SATB2c.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
2g.199348959T>GCA350387857SATB2c.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)
2g.199348959T=CA1320151690SATB2c.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=)
2g.199348960T>ACA350387860SATB2c.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)
2g.199348960T>CCA350387859SATB2c.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)
2g.199348960T>GCA350387858SATB2c.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)
2g.199348961G>ACA350387861SATB2c.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
2g.199348961G>CCA350387862SATB2c.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)
2g.199348961G>TCA350387863SATB2c.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)
2g.199348962T>ACA430835326SATB2c.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
2g.199348962T>CCA430835327SATB2c.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=)
2g.199348962T>GCA430835328SATB2c.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=)
2g.199348962T=CA1320151691SATB2c.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=)
2g.199348963G>ACA350387864SATB2c.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
2g.199348963G>CCA350387865SATB2c.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
2g.199348963G>TCA350387866SATB2c.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)
2g.199348964G>ACA350387869SATB2c.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)
2g.199348964G>CCA350387867SATB2c.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)
2g.199348964G>TCA350387868SATB2c.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)
2g.199348965A>CCA350387870SATB2c.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)
2g.199348965A>GCA430835332SATB2c.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
2g.199348965A>TCA350387871SATB2c.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)
2g.199348966C>ACA350387872SATB2c.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)
2g.199348966C=CA1320151692SATB2c.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=)
2g.199348966C>GCA350387873SATB2c.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)
2g.199348966C>TCA350387874SATB2c.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
2g.199348967T>ACA350387875SATB2c.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)
2g.199348967T>CCA350387876SATB2c.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)
2g.199348967T>GCA350387877SATB2c.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)
2g.199348968A=CA1320151693SATB2c.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=)
2g.199348968A>CCA430835335SATB2c.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=)
2g.199348968A>GCA2045986SATB2c.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
2g.199348968A>TCA430835334SATB2c.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=)
2g.199348969A>CCA350387878SATB2c.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)
2g.199348969A>GCA350387879SATB2c.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)
2g.199348969A>TCA350387880SATB2c.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)
2g.199348970G>ACA350387881SATB2c.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)
2g.199348970G>CCA350387883SATB2c.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)
2g.199348970G>TCA350387882SATB2c.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)
2g.199348971C>ACA350387884SATB2c.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)
2g.199348971C>GCA350387885SATB2c.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)
2g.199348971C>TCA430835337SATB2c.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
2g.199348972T>ACA350387886SATB2c.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)
2g.199348972T>CCA350387887SATB2c.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)
2g.199348972T>GCA350387888SATB2c.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)
2g.199348973G>ACA350387889SATB2c.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)
2g.199348973G>CCA350387890SATB2c.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)
2g.199348973G>TCA350387891SATB2c.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)
2g.199348974G>ACA430835338SATB2c.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
2g.199348974G>CCA430835339SATB2c.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=)
2g.199348974G>TCA430835340SATB2c.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=)
2g.199348975G>ACA350387892SATB2c.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)
2g.199348975G>CCA350387893SATB2c.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)
2g.199348975G>TCA350387894SATB2c.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
2g.199348976G>ACA350387897SATB2c.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
2g.199348976G>CCA350387896SATB2c.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)
2g.199348976G=CA1320151694SATB2c.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=)
2g.199348976G>TCA350387895SATB2c.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
2g.199348977A=CA1320151695SATB2c.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=)
2g.199348977A>CCA430835342SATB2c.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=)
2g.199348977A>GCA430835343SATB2c.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=)
2g.199348977A>TCA430835347SATB2c.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=)
2g.199348977_199348978insAAACCAACCA1320151697SATB2c.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
2g.199348978G>ACA350387898SATB2c.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)
2g.199348978G>CCA350387899SATB2c.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
2g.199348978G>TCA350387900SATB2c.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)
2g.199348978_199348979delinsGACA1320151696SATB2c.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=)
2g.199348979A>CCA350387901SATB2c.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)
2g.199348979A>GCA350387902SATB2c.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)
2g.199348979A>TCA350387903SATB2c.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)
2g.199348981delCA658657193SATB2c.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
2g.199348980A=CA1320151698SATB2c.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=)
2g.199348980A>CCA430835349SATB2c.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=)
2g.199348980A>GCA430835350SATB2c.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
2g.199348980A>TCA2045987SATB2c.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
2g.199348981A>CCA350387904SATB2c.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)
2g.199348981A>GCA350387905SATB2c.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)
2g.199348981A>TCA350387906SATB2c.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)
2g.199348982G>ACA350387907SATB2c.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
2g.199348982G>CCA350387908SATB2c.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)
2g.199348982G>TCA350387909SATB2c.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)
2g.199348983A>CCA430835351SATB2c.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=)
2g.199348983A>GCA430835352SATB2c.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=)
2g.199348983A>TCA430835353SATB2c.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=)
2g.199348984A>CCA350387912SATB2c.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)
2g.199348984A>GCA350387911SATB2c.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)
2g.199348984A>TCA350387910SATB2c.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)
2g.199348985G>ACA2045988SATB2c.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
2g.199348985G>CCA350387913SATB2c.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
2g.199348985G=CA1320151699SATB2c.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=)
2g.199348985G>TCA350387914SATB2c.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
2g.199348986A>CCA430835357SATB2c.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=)
2g.199348986A>GCA430835358SATB2c.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=)
2g.199348986A>TCA430835359SATB2c.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=)
2g.199348987C>ACA350387915SATB2c.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)
2g.199348987C>GCA350387916SATB2c.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)
2g.199348987C>TCA350387917SATB2c.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)
2g.199348988C>ACA350387918SATB2c.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)
2g.199348988C>GCA350387919SATB2c.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)
2g.199348988C>TCA350387920SATB2c.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
2g.199348989A=CA1320151700SATB2c.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=)
2g.199348989A>CCA430835362SATB2c.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=)
2g.199348989A>GCA2045989SATB2c.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
2g.199348989A>TCA430835365SATB2c.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=)
2g.199348990G>ACA350387921SATB2c.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
2g.199348990G>CCA350387922SATB2c.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)
2g.199348990G=CA1320151701SATB2c.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=)
2g.199348990G>TCA350387923SATB2c.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)
2g.199348991G>ACA350387924SATB2c.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
2g.199348991G>CCA350387925SATB2c.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)
2g.199348991G>TCA350387926SATB2c.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)
2g.199348992G>ACA430835367SATB2c.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=)
2g.199348992G>CCA350387928SATB2c.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)
2g.199348992G>TCA350387927SATB2c.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
2g.199348993C>ACA350387929SATB2c.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)
2g.199348993C=CA1320151702SATB2c.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=)
2g.199348993C>GCA350387930SATB2c.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)
2g.199348993C>TCA2045990SATB2c.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
2g.199348994T>ACA350387931SATB2c.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)
2g.199348994T>CCA350387932SATB2c.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)
2g.199348994T>GCA350387933SATB2c.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)
2g.199348995_199348997dupCA538919092SATB2c.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
2g.199348995C>ACA350387934SATB2c.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)
2g.199348995C=CA1320151703SATB2c.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=)
2g.199348995C>GCA350387935SATB2c.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)
2g.199348995C>TCA64251729SATB2c.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
2g.199348996A=CA1320151704SATB2c.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=)
2g.199348996A>CCA350387936SATB2c.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
2g.199348996A>GCA350387937SATB2c.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
2g.199348996A>TCA350387938SATB2c.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)
2g.199348997T>ACA350387940SATB2c.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)
2g.199348997T>CCA2045991SATB2c.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
2g.199348997T>GCA350387939SATB2c.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)
2g.199348997T=CA1320151705SATB2c.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=)
2g.199348998G>ACA430835371SATB2c.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=)
2g.199348998G>CCA350387941SATB2c.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)
2g.199348998G>TCA430835370SATB2c.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=)
2g.199348999A>CCA350387942SATB2c.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)
2g.199348999A>GCA350387943SATB2c.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)
2g.199348999A>TCA350387944SATB2c.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)
2g.199349000T>ACA350387945SATB2c.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)
2g.199349000T>CCA350387946SATB2c.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
2g.199349000T>GCA350387947SATB2c.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
2g.199349001G>ACA430835373SATB2c.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
2g.199349001G>CCA430835375SATB2c.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=)
2g.199349001G>TCA430835374SATB2c.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=)
2g.199349002G>ACA350387948SATB2c.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)
2g.199349002G>CCA350387949SATB2c.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)
2g.199349002G>TCA350387950SATB2c.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)
2g.199349003G>ACA350387951SATB2c.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
2g.199349003G>CCA350387952SATB2c.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)
2g.199349003G>TCA350387953SATB2c.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)
2g.199349004C>ACA350387955SATB2c.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)
2g.199349004C=CA1320151706SATB2c.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=)
2g.199349004C>GCA350387954SATB2c.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)
2g.199349004C>TCA430835378SATB2c.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
2g.199349005T>ACA350387956SATB2c.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
2g.199349005T>CCA350387957SATB2c.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)
2g.199349005T>GCA350387958SATB2c.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)
2g.199349006G>ACA16042461SATB2c.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
2g.199349006G>CCA350387959SATB2c.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)
2g.199349006G=CA1320151707SATB2c.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=)
2g.199349006G>TCA350387960SATB2c.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)
2g.199349007delCA2525997083SATB2c.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)
2g.199349007T>ACA350387961SATB2c.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)
2g.199349007T>CCA2045992SATB2c.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
2g.199349007T>GCA350387962SATB2c.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)
2g.199349007T=CA1320151708SATB2c.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=)
2g.199349008A>CCA350387963SATB2c.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
2g.199349008A>GCA350387964SATB2c.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)
2g.199349008A>TCA350387965SATB2c.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)
2g.199349009A>CCA350387966SATB2c.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)
2g.199349009A>GCA430835380SATB2c.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=)
2g.199349009A>TCA350387967SATB2c.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)

Number of alleles fetched