Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.52028044A>C | CA356876059 | SGCB | c.677T>G (p.Val226Gly) c.380T>G (p.Val127Gly) c.467T>G (p.Val156Gly) | |
4 | g.52028044A>G | CA356876061 | SGCB | c.677T>C (p.Val226Ala) c.380T>C (p.Val127Ala) c.467T>C (p.Val156Ala) | |
4 | g.52028044A>T | CA356876064 | SGCB | c.677T>A (p.Val226Glu) c.380T>A (p.Val127Glu) c.467T>A (p.Val156Glu) | |
4 | g.52028045C>A | CA356876072 | SGCB | c.676G>T (p.Val226Leu) c.379G>T (p.Val127Leu) c.466G>T (p.Val156Leu) | gnomAD v4 |
4 | g.52028045C>G | CA356876069 | SGCB | c.676G>C (p.Val226Leu) c.379G>C (p.Val127Leu) c.466G>C (p.Val156Leu) | |
4 | g.52028045C>T | CA356876067 | SGCB | c.676G>A (p.Val226Met) c.379G>A (p.Val127Met) c.466G>A (p.Val156Met) | |
4 | g.52028046A>C | CA356876073 | SGCB | c.675T>G (p.Ile225Met) c.378T>G (p.Ile126Met) c.465T>G (p.Ile155Met) | |
4 | g.52028046A>G | CA439273766 | SGCB | c.675T>C (p.Ile225=) c.378T>C (p.Ile126=) c.465T>C (p.Ile155=) | ClinVar |
4 | g.52028046A>T | CA439273767 | SGCB | c.675T>A (p.Ile225=) c.378T>A (p.Ile126=) c.465T>A (p.Ile155=) | gnomAD v4 |
4 | g.52028047A= | CA1457429150 | SGCB | c.674T= (p.Ile225=) c.377T= (p.Ile126=) c.464T= (p.Ile155=) | |
4 | g.52028047A>C | CA356876076 | SGCB | c.674T>G (p.Ile225Ser) c.377T>G (p.Ile126Ser) c.464T>G (p.Ile155Ser) | |
4 | g.52028047A>G | CA2918322 | SGCB | c.674T>C (p.Ile225Thr) c.377T>C (p.Ile126Thr) c.464T>C (p.Ile155Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028047A>T | CA356876079 | SGCB | c.674T>A (p.Ile225Asn) c.377T>A (p.Ile126Asn) c.464T>A (p.Ile155Asn) | |
4 | g.52028048T>A | CA356876082 | SGCB | c.673A>T (p.Ile225Phe) c.376A>T (p.Ile126Phe) c.463A>T (p.Ile155Phe) | |
4 | g.52028048T>C | CA356876084 | SGCB | c.673A>G (p.Ile225Val) c.376A>G (p.Ile126Val) c.463A>G (p.Ile155Val) | gnomAD v4 |
4 | g.52028048T>G | CA356876087 | SGCB | c.673A>C (p.Ile225Leu) c.376A>C (p.Ile126Leu) c.463A>C (p.Ile155Leu) | |
4 | g.52028049A>C | CA439273770 | SGCB | c.672T>G (p.Ala224=) c.375T>G (p.Ala125=) c.462T>G (p.Ala154=) | |
4 | g.52028049A>G | CA439273772 | SGCB | c.672T>C (p.Ala224=) c.375T>C (p.Ala125=) c.462T>C (p.Ala154=) | gnomAD v4 |
4 | g.52028049A>T | CA439273773 | SGCB | c.672T>A (p.Ala224=) c.375T>A (p.Ala125=) c.462T>A (p.Ala154=) | |
4 | g.52028050G>A | CA356876088 | SGCB | c.671C>T (p.Ala224Val) c.374C>T (p.Ala125Val) c.461C>T (p.Ala154Val) | |
4 | g.52028050G>C | CA356876090 | SGCB | c.671C>G (p.Ala224Gly) c.374C>G (p.Ala125Gly) c.461C>G (p.Ala154Gly) | |
4 | g.52028050G= | CA1457429151 | SGCB | c.671C= (p.Ala224=) c.374C= (p.Ala125=) c.461C= (p.Ala154=) | |
4 | g.52028050G>T | CA356876091 | SGCB | c.671C>A (p.Ala224Asp) c.374C>A (p.Ala125Asp) c.461C>A (p.Ala154Asp) | dbSNP gnomAD v4 |
4 | g.52028051C>A | CA356876093 | SGCB | c.670G>T (p.Ala224Ser) c.373G>T (p.Ala125Ser) c.460G>T (p.Ala154Ser) | |
4 | g.52028051C>G | CA356876096 | SGCB | c.670G>C (p.Ala224Pro) c.373G>C (p.Ala125Pro) c.460G>C (p.Ala154Pro) | |
4 | g.52028051C>T | CA356876100 | SGCB | c.670G>A (p.Ala224Thr) c.373G>A (p.Ala125Thr) c.460G>A (p.Ala154Thr) | |
4 | g.52028052A>C | CA439273775 | SGCB | c.669T>G (p.Arg223=) c.372T>G (p.Arg124=) c.459T>G (p.Arg153=) | |
4 | g.52028052A>G | CA439273776 | SGCB | c.669T>C (p.Arg223=) c.372T>C (p.Arg124=) c.459T>C (p.Arg153=) | |
4 | g.52028052A>T | CA439273777 | SGCB | c.669T>A (p.Arg223=) c.372T>A (p.Arg124=) c.459T>A (p.Arg153=) | |
4 | g.52028053C>A | CA356876105 | SGCB | c.668G>T (p.Arg223Leu) c.371G>T (p.Arg124Leu) c.458G>T (p.Arg153Leu) | |
4 | g.52028053C= | CA1457429152 | SGCB | c.668G= (p.Arg223=) c.371G= (p.Arg124=) c.458G= (p.Arg153=) | |
4 | g.52028053C>G | CA356876107 | SGCB | c.668G>C (p.Arg223Pro) c.371G>C (p.Arg124Pro) c.458G>C (p.Arg153Pro) | |
4 | g.52028053C>T | CA2918323 | SGCB | c.668G>A (p.Arg223His) c.371G>A (p.Arg124His) c.458G>A (p.Arg153His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028054G>A | CA96780948 | SGCB | c.667C>T (p.Arg223Cys) c.370C>T (p.Arg124Cys) c.457C>T (p.Arg153Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.52028054G>C | CA356876110 | SGCB | c.667C>G (p.Arg223Gly) c.370C>G (p.Arg124Gly) c.457C>G (p.Arg153Gly) | |
4 | g.52028054G= | CA1457429153 | SGCB | c.667C= (p.Arg223=) c.370C= (p.Arg124=) c.457C= (p.Arg153=) | |
4 | g.52028054G>T | CA356876113 | SGCB | c.667C>A (p.Arg223Ser) c.370C>A (p.Arg124Ser) c.457C>A (p.Arg153Ser) | gnomAD v4 |
4 | g.52028055C>A | CA439273779 | SGCB | c.666G>T (p.Gly222=) c.369G>T (p.Gly123=) c.456G>T (p.Gly152=) | |
4 | g.52028055C>G | CA439273780 | SGCB | c.666G>C (p.Gly222=) c.369G>C (p.Gly123=) c.456G>C (p.Gly152=) | |
4 | g.52028055C>T | CA439273781 | SGCB | c.666G>A (p.Gly222=) c.369G>A (p.Gly123=) c.456G>A (p.Gly152=) | |
4 | g.52028056C>A | CA356876118 | SGCB | c.665G>T (p.Gly222Val) c.368G>T (p.Gly123Val) c.455G>T (p.Gly152Val) | |
4 | g.52028056C>G | CA356876120 | SGCB | c.665G>C (p.Gly222Ala) c.368G>C (p.Gly123Ala) c.455G>C (p.Gly152Ala) | |
4 | g.52028056C>T | CA356876121 | SGCB | c.665G>A (p.Gly222Glu) c.368G>A (p.Gly123Glu) c.455G>A (p.Gly152Glu) | |
4 | g.52028057C>A | CA356876128 | SGCB | c.664G>T (p.Gly222Trp) c.367G>T (p.Gly123Trp) c.454G>T (p.Gly152Trp) | |
4 | g.52028057C= | CA1457429154 | SGCB | c.664G= (p.Gly222=) c.367G= (p.Gly123=) c.454G= (p.Gly152=) | |
4 | g.52028057C>G | CA356876123 | SGCB | c.664G>C (p.Gly222Arg) c.367G>C (p.Gly123Arg) c.454G>C (p.Gly152Arg) | |
4 | g.52028057C>T | CA356876126 | SGCB | c.664G>A (p.Gly222Arg) c.367G>A (p.Gly123Arg) c.454G>A (p.Gly152Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028058A>C | CA356876130 | SGCB | c.663T>G (p.Asp221Glu) c.366T>G (p.Asp122Glu) c.453T>G (p.Asp151Glu) | |
4 | g.52028058A>G | CA439273786 | SGCB | c.663T>C (p.Asp221=) c.366T>C (p.Asp122=) c.453T>C (p.Asp151=) | |
4 | g.52028058A>T | CA356876131 | SGCB | c.663T>A (p.Asp221Glu) c.366T>A (p.Asp122Glu) c.453T>A (p.Asp151Glu) | |
4 | g.52028059T>A | CA356876134 | SGCB | c.662A>T (p.Asp221Val) c.365A>T (p.Asp122Val) c.452A>T (p.Asp151Val) | |
4 | g.52028059T>C | CA356876136 | SGCB | c.662A>G (p.Asp221Gly) c.365A>G (p.Asp122Gly) c.452A>G (p.Asp151Gly) | |
4 | g.52028059T>G | CA356876138 | SGCB | c.662A>C (p.Asp221Ala) c.365A>C (p.Asp122Ala) c.452A>C (p.Asp151Ala) | |
4 | g.52028060C>A | CA356876141 | SGCB | c.661G>T (p.Asp221Tyr) c.364G>T (p.Asp122Tyr) c.451G>T (p.Asp151Tyr) | |
4 | g.52028060C>G | CA356876144 | SGCB | c.661G>C (p.Asp221His) c.364G>C (p.Asp122His) c.451G>C (p.Asp151His) | |
4 | g.52028060C>T | CA356876143 | SGCB | c.661G>A (p.Asp221Asn) c.364G>A (p.Asp122Asn) c.451G>A (p.Asp151Asn) | |
4 | g.52028061A>C | CA439273789 | SGCB | c.660T>G (p.Val220=) c.363T>G (p.Val121=) c.450T>G (p.Val150=) | |
4 | g.52028061A>G | CA439273790 | SGCB | c.660T>C (p.Val220=) c.363T>C (p.Val121=) c.450T>C (p.Val150=) | ClinVar dbSNP |
4 | g.52028061A>T | CA439273791 | SGCB | c.660T>A (p.Val220=) c.363T>A (p.Val121=) c.450T>A (p.Val150=) | |
4 | g.52028062A>C | CA356876147 | SGCB | c.659T>G (p.Val220Gly) c.362T>G (p.Val121Gly) c.449T>G (p.Val150Gly) | |
4 | g.52028062A>G | CA356876149 | SGCB | c.659T>C (p.Val220Ala) c.362T>C (p.Val121Ala) c.449T>C (p.Val150Ala) | |
4 | g.52028062A>T | CA356876150 | SGCB | c.659T>A (p.Val220Asp) c.362T>A (p.Val121Asp) c.449T>A (p.Val150Asp) | |
4 | g.52028063C>A | CA356876153 | SGCB | c.658G>T (p.Val220Phe) c.361G>T (p.Val121Phe) c.448G>T (p.Val150Phe) | |
4 | g.52028063C>G | CA356876155 | SGCB | c.658G>C (p.Val220Leu) c.361G>C (p.Val121Leu) c.448G>C (p.Val150Leu) | |
4 | g.52028063C>T | CA356876157 | SGCB | c.658G>A (p.Val220Ile) c.361G>A (p.Val121Ile) c.448G>A (p.Val150Ile) | |
4 | g.52028063_52028065delinsCTT | CA1457429155 | SGCB | c.656_658delinsAAG (p.Lys219=) c.359_361delinsAAG (p.Lys120=) c.446_448delinsAAG (p.Lys149=) | |
4 | g.52028064T>A | CA356876158 | SGCB | c.657A>T (p.Lys219Asn) c.360A>T (p.Lys120Asn) c.447A>T (p.Lys149Asn) | |
4 | g.52028064T>C | CA439273796 | SGCB | c.657A>G (p.Lys219=) c.360A>G (p.Lys120=) c.447A>G (p.Lys149=) | |
4 | g.52028064T>G | CA356876159 | SGCB | c.657A>C (p.Lys219Asn) c.360A>C (p.Lys120Asn) c.447A>C (p.Lys149Asn) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028064T= | CA1457429156 | SGCB | c.657A= (p.Lys219=) c.360A= (p.Lys120=) c.447A= (p.Lys149=) | |
4 | g.52028067dup | CA2670598634 | SGCB | c.657dup (p.Val220SerfsTer2) c.360dup (p.Val121SerfsTer2) c.447dup (p.Val150SerfsTer2) | gnomAD v4 |
4 | g.52028067del | CA2918324 | SGCB | c.657del (p.Val220LeufsTer?) c.360del (p.Val121LeufsTer?) c.447del (p.Val150LeufsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028066_52028067del | CA551340682 | SGCB | c.656_657del (p.Lys219SerfsTer2) c.359_360del (p.Lys120SerfsTer2) c.446_447del (p.Lys149SerfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028065T>A | CA356876163 | SGCB | c.656A>T (p.Lys219Ile) c.359A>T (p.Lys120Ile) c.446A>T (p.Lys149Ile) | |
4 | g.52028065T>C | CA356876166 | SGCB | c.656A>G (p.Lys219Arg) c.359A>G (p.Lys120Arg) c.446A>G (p.Lys149Arg) | |
4 | g.52028065T>G | CA356876167 | SGCB | c.656A>C (p.Lys219Thr) c.359A>C (p.Lys120Thr) c.446A>C (p.Lys149Thr) | |
4 | g.52028066T>A | CA356876174 | SGCB | c.655A>T (p.Lys219Ter) c.358A>T (p.Lys120Ter) c.445A>T (p.Lys149Ter) | |
4 | g.52028066T>C | CA356876172 | SGCB | c.655A>G (p.Lys219Glu) c.358A>G (p.Lys120Glu) c.445A>G (p.Lys149Glu) | |
4 | g.52028066T>G | CA356876170 | SGCB | c.655A>C (p.Lys219Gln) c.358A>C (p.Lys120Gln) c.445A>C (p.Lys149Gln) | |
4 | g.52028066T= | CA1457429157 | SGCB | c.655A= (p.Lys219=) c.358A= (p.Lys120=) c.445A= (p.Lys149=) | |
4 | g.52028067T>A | CA439273801 | SGCB | c.654A>T (p.Ile218=) c.357A>T (p.Ile119=) c.444A>T (p.Ile148=) | |
4 | g.52028067T>C | CA356876176 | SGCB | c.654A>G (p.Ile218Met) c.357A>G (p.Ile119Met) c.444A>G (p.Ile148Met) | |
4 | g.52028067T>G | CA439273804 | SGCB | c.654A>C (p.Ile218=) c.357A>C (p.Ile119=) c.444A>C (p.Ile148=) | |
4 | g.52028070_52028071dup | CA2918325 | SGCB | c.653_654dup (p.Lys219Ter) c.356_357dup (p.Lys120Ter) c.443_444dup (p.Lys149Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028070_52028071del | CA913106930 | SGCB | c.653_654del (p.Ile218LysfsTer3) c.356_357del (p.Ile119LysfsTer3) c.443_444del (p.Ile148LysfsTer3) | |
4 | g.52028068A= | CA1457429158 | SGCB | c.653T= (p.Ile218=) c.356T= (p.Ile119=) c.443T= (p.Ile148=) | |
4 | g.52028068A>C | CA356876177 | SGCB | c.653T>G (p.Ile218Arg) c.356T>G (p.Ile119Arg) c.443T>G (p.Ile148Arg) | |
4 | g.52028068A>G | CA356876179 | SGCB | c.653T>C (p.Ile218Thr) c.356T>C (p.Ile119Thr) c.443T>C (p.Ile148Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028068A>T | CA356876178 | SGCB | c.653T>A (p.Ile218Lys) c.356T>A (p.Ile119Lys) c.443T>A (p.Ile148Lys) | |
4 | g.52028069T>A | CA356876182 | SGCB | c.652A>T (p.Ile218Leu) c.355A>T (p.Ile119Leu) c.442A>T (p.Ile148Leu) | |
4 | g.52028069T>C | CA356876184 | SGCB | c.652A>G (p.Ile218Val) c.355A>G (p.Ile119Val) c.442A>G (p.Ile148Val) | gnomAD v4 |
4 | g.52028069T>G | CA356876187 | SGCB | c.652A>C (p.Ile218Leu) c.355A>C (p.Ile119Leu) c.442A>C (p.Ile148Leu) | |
4 | g.52028070A>C | CA356876188 | SGCB | c.651T>G (p.Asn217Lys) c.354T>G (p.Asn118Lys) c.441T>G (p.Asn147Lys) | |
4 | g.52028070A>G | CA439273808 | SGCB | c.651T>C (p.Asn217=) c.354T>C (p.Asn118=) c.441T>C (p.Asn147=) | gnomAD v4 |
4 | g.52028070A>T | CA356876190 | SGCB | c.651T>A (p.Asn217Lys) c.354T>A (p.Asn118Lys) c.441T>A (p.Asn147Lys) | |
4 | g.52028070_52028071delinsAT | CA1457429159 | SGCB | c.650_651delinsAT (p.Asn217=) c.353_354delinsAT (p.Asn118=) c.440_441delinsAT (p.Asn147=) | |
4 | g.52028071T>A | CA356876192 | SGCB | c.650A>T (p.Asn217Ile) c.353A>T (p.Asn118Ile) c.440A>T (p.Asn147Ile) | |
4 | g.52028071T>C | CA356876194 | SGCB | c.650A>G (p.Asn217Ser) c.353A>G (p.Asn118Ser) c.440A>G (p.Asn147Ser) | gnomAD v4 |
4 | g.52028071T>G | CA356876196 | SGCB | c.650A>C (p.Asn217Thr) c.353A>C (p.Asn118Thr) c.440A>C (p.Asn147Thr) | |
4 | g.52028073del | CA658822650 | SGCB | c.650del (p.Asn217IlefsTer2) c.353del (p.Asn118IlefsTer2) c.440del (p.Asn147IlefsTer2) | ClinVar dbSNP |
4 | g.52028072T>A | CA356876199 | SGCB | c.649A>T (p.Asn217Tyr) c.352A>T (p.Asn118Tyr) c.439A>T (p.Asn147Tyr) | |
4 | g.52028072T>C | CA356876200 | SGCB | c.649A>G (p.Asn217Asp) c.352A>G (p.Asn118Asp) c.439A>G (p.Asn147Asp) | |
4 | g.52028072T>G | CA356876203 | SGCB | c.649A>C (p.Asn217His) c.352A>C (p.Asn118His) c.439A>C (p.Asn147His) | |
4 | g.52028073T>A | CA356876204 | SGCB | c.648A>T (p.Leu216Phe) c.351A>T (p.Leu117Phe) c.438A>T (p.Leu146Phe) | |
4 | g.52028073T>C | CA439273813 | SGCB | c.648A>G (p.Leu216=) c.351A>G (p.Leu117=) c.438A>G (p.Leu146=) | |
4 | g.52028073T>G | CA356876206 | SGCB | c.648A>C (p.Leu216Phe) c.351A>C (p.Leu117Phe) c.438A>C (p.Leu146Phe) | |
4 | g.52028074A>C | CA356876209 | SGCB | c.647T>G (p.Leu216Ter) c.350T>G (p.Leu117Ter) c.437T>G (p.Leu146Ter) | |
4 | g.52028074A>G | CA356876214 | SGCB | c.647T>C (p.Leu216Ser) c.350T>C (p.Leu117Ser) c.437T>C (p.Leu146Ser) | |
4 | g.52028074A>T | CA356876211 | SGCB | c.647T>A (p.Leu216Ter) c.350T>A (p.Leu117Ter) c.437T>A (p.Leu146Ter) | |
4 | g.52028075A= | CA1457429160 | SGCB | c.646T= (p.Leu216=) c.349T= (p.Leu117=) c.436T= (p.Leu146=) | |
4 | g.52028075A>C | CA356876216 | SGCB | c.646T>G (p.Leu216Val) c.349T>G (p.Leu117Val) c.436T>G (p.Leu146Val) | |
4 | g.52028075A>G | CA439273814 | SGCB | c.646T>C (p.Leu216=) c.349T>C (p.Leu117=) c.436T>C (p.Leu146=) | |
4 | g.52028075A>T | CA356876217 | SGCB | c.646T>A (p.Leu216Ile) c.349T>A (p.Leu117Ile) c.436T>A (p.Leu146Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028076A>C | CA356876219 | SGCB | c.645T>G (p.Asp215Glu) c.348T>G (p.Asp116Glu) c.435T>G (p.Asp145Glu) | |
4 | g.52028076A>G | CA439273815 | SGCB | c.645T>C (p.Asp215=) c.348T>C (p.Asp116=) c.435T>C (p.Asp145=) | gnomAD v4 |
4 | g.52028076A>T | CA356876220 | SGCB | c.645T>A (p.Asp215Glu) c.348T>A (p.Asp116Glu) c.435T>A (p.Asp145Glu) | |
4 | g.52028077T>A | CA356876222 | SGCB | c.644A>T (p.Asp215Val) c.347A>T (p.Asp116Val) c.434A>T (p.Asp145Val) | ClinVar |
4 | g.52028077T>C | CA356876223 | SGCB | c.644A>G (p.Asp215Gly) c.347A>G (p.Asp116Gly) c.434A>G (p.Asp145Gly) | |
4 | g.52028077T>G | CA356876225 | SGCB | c.644A>C (p.Asp215Ala) c.347A>C (p.Asp116Ala) c.434A>C (p.Asp145Ala) | |
4 | g.52028078C>A | CA2918326 | SGCB | c.643G>T (p.Asp215Tyr) c.346G>T (p.Asp116Tyr) c.433G>T (p.Asp145Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028078C= | CA1457429161 | SGCB | c.643G= (p.Asp215=) c.346G= (p.Asp116=) c.433G= (p.Asp145=) | |
4 | g.52028078C>G | CA356876228 | SGCB | c.643G>C (p.Asp215His) c.346G>C (p.Asp116His) c.433G>C (p.Asp145His) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028078C>T | CA356876231 | SGCB | c.643G>A (p.Asp215Asn) c.346G>A (p.Asp116Asn) c.433G>A (p.Asp145Asn) | |
4 | g.52028079A>C | CA356876233 | SGCB | c.642T>G (p.Ser214Arg) c.345T>G (p.Ser115Arg) c.432T>G (p.Ser144Arg) | |
4 | g.52028079A>G | CA439273819 | SGCB | c.642T>C (p.Ser214=) c.345T>C (p.Ser115=) c.432T>C (p.Ser144=) | |
4 | g.52028079A>T | CA356876235 | SGCB | c.642T>A (p.Ser214Arg) c.345T>A (p.Ser115Arg) c.432T>A (p.Ser144Arg) | |
4 | g.52028080C>A | CA2918327 | SGCB | c.641G>T (p.Ser214Ile) c.344G>T (p.Ser115Ile) c.431G>T (p.Ser144Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028080C= | CA1457429162 | SGCB | c.641G= (p.Ser214=) c.344G= (p.Ser115=) c.431G= (p.Ser144=) | |
4 | g.52028080C>G | CA356876239 | SGCB | c.641G>C (p.Ser214Thr) c.344G>C (p.Ser115Thr) c.431G>C (p.Ser144Thr) | |
4 | g.52028080C>T | CA356876241 | SGCB | c.641G>A (p.Ser214Asn) c.344G>A (p.Ser115Asn) c.431G>A (p.Ser144Asn) | |
4 | g.52028081T>A | CA2918328 | SGCB | c.640A>T (p.Ser214Cys) c.343A>T (p.Ser115Cys) c.430A>T (p.Ser144Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.52028081T>C | CA356876245 | SGCB | c.640A>G (p.Ser214Gly) c.343A>G (p.Ser115Gly) c.430A>G (p.Ser144Gly) | |
4 | g.52028081T>G | CA356876246 | SGCB | c.640A>C (p.Ser214Arg) c.343A>C (p.Ser115Arg) c.430A>C (p.Ser144Arg) | |
4 | g.52028081T= | CA1457429163 | SGCB | c.640A= (p.Ser214=) c.343A= (p.Ser115=) c.430A= (p.Ser144=) | |
4 | g.52028082G>A | CA439273823 | SGCB | c.639C>T (p.Thr213=) c.342C>T (p.Thr114=) c.429C>T (p.Thr143=) | ClinVar dbSNP |
4 | g.52028082G>C | CA96780974 | SGCB | c.639C>G (p.Thr213=) c.342C>G (p.Thr114=) c.429C>G (p.Thr143=) | dbSNP |
4 | g.52028082G= | CA1457429164 | SGCB | c.639C= (p.Thr213=) c.342C= (p.Thr114=) c.429C= (p.Thr143=) | |
4 | g.52028082G>T | CA439273824 | SGCB | c.639C>A (p.Thr213=) c.342C>A (p.Thr114=) c.429C>A (p.Thr143=) | |
4 | g.52028082_52028083insTTTAAATAT | CA2918329 | SGCB | c.638_639insATATTTAAA (p.Thr213_Ser214insTyrLeuAsn) c.341_342insATATTTAAA (p.Thr114_Ser115insTyrLeuAsn) c.428_429insATATTTAAA (p.Thr143_Ser144insTyrLeuAsn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028083G>A | CA2918330 | SGCB | c.638C>T (p.Thr213Ile) c.341C>T (p.Thr114Ile) c.428C>T (p.Thr143Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028083G>C | CA356876253 | SGCB | c.638C>G (p.Thr213Ser) c.341C>G (p.Thr114Ser) c.428C>G (p.Thr143Ser) | |
4 | g.52028083G= | CA1457429165 | SGCB | c.638C= (p.Thr213=) c.341C= (p.Thr114=) c.428C= (p.Thr143=) | |
4 | g.52028083G>T | CA356876250 | SGCB | c.638C>A (p.Thr213Asn) c.341C>A (p.Thr114Asn) c.428C>A (p.Thr143Asn) | |
4 | g.52028084T>A | CA356876257 | SGCB | c.637A>T (p.Thr213Ser) c.340A>T (p.Thr114Ser) c.427A>T (p.Thr143Ser) | |
4 | g.52028084T>C | CA356876259 | SGCB | c.637A>G (p.Thr213Ala) c.340A>G (p.Thr114Ala) c.427A>G (p.Thr143Ala) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028084T>G | CA356876262 | SGCB | c.637A>C (p.Thr213Pro) c.340A>C (p.Thr114Pro) c.427A>C (p.Thr143Pro) | |
4 | g.52028084T= | CA1457429166 | SGCB | c.637A= (p.Thr213=) c.340A= (p.Thr114=) c.427A= (p.Thr143=) | |
4 | g.52028085A>C | CA439273825 | SGCB | c.636T>G (p.Ala212=) c.339T>G (p.Ala113=) c.426T>G (p.Ala142=) | |
4 | g.52028085A>G | CA439273827 | SGCB | c.636T>C (p.Ala212=) c.339T>C (p.Ala113=) c.426T>C (p.Ala142=) | ClinVar |
4 | g.52028085A>T | CA439273826 | SGCB | c.636T>A (p.Ala212=) c.339T>A (p.Ala113=) c.426T>A (p.Ala142=) | |
4 | g.52028086G>A | CA356876263 | SGCB | c.635C>T (p.Ala212Val) c.338C>T (p.Ala113Val) c.425C>T (p.Ala142Val) | |
4 | g.52028086G>C | CA356876268 | SGCB | c.635C>G (p.Ala212Gly) c.338C>G (p.Ala113Gly) c.425C>G (p.Ala142Gly) | |
4 | g.52028086G>T | CA356876266 | SGCB | c.635C>A (p.Ala212Asp) c.338C>A (p.Ala113Asp) c.425C>A (p.Ala142Asp) | |
4 | g.52028087C>A | CA356876271 | SGCB | c.634G>T (p.Ala212Ser) c.337G>T (p.Ala113Ser) c.424G>T (p.Ala142Ser) | |
4 | g.52028087C>G | CA356876273 | SGCB | c.634G>C (p.Ala212Pro) c.337G>C (p.Ala113Pro) c.424G>C (p.Ala142Pro) | |
4 | g.52028087C>T | CA356876275 | SGCB | c.634G>A (p.Ala212Thr) c.337G>A (p.Ala113Thr) c.424G>A (p.Ala142Thr) | gnomAD v4 |
4 | g.52028088A= | CA1457429167 | SGCB | c.633T= (p.Asn211=) c.336T= (p.Asn112=) c.423T= (p.Asn141=) | |
4 | g.52028088A>C | CA356876277 | SGCB | c.633T>G (p.Asn211Lys) c.336T>G (p.Asn112Lys) c.423T>G (p.Asn141Lys) | |
4 | g.52028088A>G | CA439273830 | SGCB | c.633T>C (p.Asn211=) c.336T>C (p.Asn112=) c.423T>C (p.Asn141=) | |
4 | g.52028088A>T | CA2918331 | SGCB | c.633T>A (p.Asn211Lys) c.336T>A (p.Asn112Lys) c.423T>A (p.Asn141Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028089T>A | CA356876280 | SGCB | c.632A>T (p.Asn211Ile) c.335A>T (p.Asn112Ile) c.422A>T (p.Asn141Ile) | |
4 | g.52028089T>C | CA2918332 | SGCB | c.632A>G (p.Asn211Ser) c.335A>G (p.Asn112Ser) c.422A>G (p.Asn141Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028089T>G | CA356876283 | SGCB | c.632A>C (p.Asn211Thr) c.335A>C (p.Asn112Thr) c.422A>C (p.Asn141Thr) | |
4 | g.52028089T= | CA1457429168 | SGCB | c.632A= (p.Asn211=) c.335A= (p.Asn112=) c.422A= (p.Asn141=) | |
4 | g.52028090T>A | CA356876285 | SGCB | c.631A>T (p.Asn211Tyr) c.334A>T (p.Asn112Tyr) c.421A>T (p.Asn141Tyr) | |
4 | g.52028090T>C | CA356876288 | SGCB | c.631A>G (p.Asn211Asp) c.334A>G (p.Asn112Asp) c.421A>G (p.Asn141Asp) | |
4 | g.52028090T>G | CA356876290 | SGCB | c.631A>C (p.Asn211His) c.334A>C (p.Asn112His) c.421A>C (p.Asn141His) | |
4 | g.52028091G>A | CA439273832 | SGCB | c.630C>T (p.Ser210=) c.333C>T (p.Ser111=) c.420C>T (p.Ser140=) | ClinVar dbSNP |
4 | g.52028091G>C | CA356876295 | SGCB | c.630C>G (p.Ser210Arg) c.333C>G (p.Ser111Arg) c.420C>G (p.Ser140Arg) | ClinVar |
4 | g.52028091G>T | CA356876293 | SGCB | c.630C>A (p.Ser210Arg) c.333C>A (p.Ser111Arg) c.420C>A (p.Ser140Arg) | ClinVar |
4 | g.52028092C>A | CA96781013 | SGCB | c.629G>T (p.Ser210Ile) c.332G>T (p.Ser111Ile) c.419G>T (p.Ser140Ile) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028092C= | CA1457429169 | SGCB | c.629G= (p.Ser210=) c.332G= (p.Ser111=) c.419G= (p.Ser140=) | |
4 | g.52028092C>G | CA356876300 | SGCB | c.629G>C (p.Ser210Thr) c.332G>C (p.Ser111Thr) c.419G>C (p.Ser140Thr) | |
4 | g.52028092C>T | CA356876302 | SGCB | c.629G>A (p.Ser210Asn) c.332G>A (p.Ser111Asn) c.419G>A (p.Ser140Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028095_52028102del | CA2918333 | SGCB | c.622_629del c.325_332del c.412_419del | ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028093T>A | CA356876305 | SGCB | c.628A>T (p.Ser210Cys) c.331A>T (p.Ser111Cys) c.418A>T (p.Ser140Cys) | |
4 | g.52028093T>C | CA356876307 | SGCB | c.628A>G (p.Ser210Gly) c.331A>G (p.Ser111Gly) c.418A>G (p.Ser140Gly) | |
4 | g.52028093T>G | CA356876308 | SGCB | c.628A>C (p.Ser210Arg) c.331A>C (p.Ser111Arg) c.418A>C (p.Ser140Arg) | |
4 | g.52028094G>A | CA439273834 | SGCB | c.627C>T (p.Thr209=) c.330C>T (p.Thr110=) c.417C>T (p.Thr139=) | ClinVar dbSNP gnomAD v4 |
4 | g.52028094G>C | CA439273836 | SGCB | c.627C>G (p.Thr209=) c.330C>G (p.Thr110=) c.417C>G (p.Thr139=) | |
4 | g.52028094G= | CA1457429170 | SGCB | c.627C= (p.Thr209=) c.330C= (p.Thr110=) c.417C= (p.Thr139=) | |
4 | g.52028094G>T | CA439273833 | SGCB | c.627C>A (p.Thr209=) c.330C>A (p.Thr110=) c.417C>A (p.Thr139=) | |
4 | g.52028095G>A | CA356876310 | SGCB | c.626C>T (p.Thr209Ile) c.329C>T (p.Thr110Ile) c.416C>T (p.Thr139Ile) | ClinVar dbSNP |
4 | g.52028095G>C | CA356876311 | SGCB | c.626C>G (p.Thr209Ser) c.329C>G (p.Thr110Ser) c.416C>G (p.Thr139Ser) | |
4 | g.52028095G>T | CA356876313 | SGCB | c.626C>A (p.Thr209Asn) c.329C>A (p.Thr110Asn) c.416C>A (p.Thr139Asn) | |
4 | g.52028096T>A | CA356876315 | SGCB | c.625A>T (p.Thr209Ser) c.328A>T (p.Thr110Ser) c.415A>T (p.Thr139Ser) | |
4 | g.52028096T>C | CA356876318 | SGCB | c.625A>G (p.Thr209Ala) c.328A>G (p.Thr110Ala) c.415A>G (p.Thr139Ala) | |
4 | g.52028096T>G | CA356876316 | SGCB | c.625A>C (p.Thr209Pro) c.328A>C (p.Thr110Pro) c.415A>C (p.Thr139Pro) | |
4 | g.52028097A>C | CA356876320 | SGCB | c.624T>G (p.Ile208Met) c.327T>G (p.Ile109Met) c.414T>G (p.Ile138Met) | |
4 | g.52028097A>G | CA439273839 | SGCB | c.624T>C (p.Ile208=) c.327T>C (p.Ile109=) c.414T>C (p.Ile138=) | |
4 | g.52028097A>T | CA439273840 | SGCB | c.624T>A (p.Ile208=) c.327T>A (p.Ile109=) c.414T>A (p.Ile138=) | |
4 | g.52028098A>C | CA356876322 | SGCB | c.623T>G (p.Ile208Ser) c.326T>G (p.Ile109Ser) c.413T>G (p.Ile138Ser) | |
4 | g.52028098A>G | CA356876324 | SGCB | c.623T>C (p.Ile208Thr) c.326T>C (p.Ile109Thr) c.413T>C (p.Ile138Thr) | |
4 | g.52028098A>T | CA356876327 | SGCB | c.623T>A (p.Ile208Asn) c.326T>A (p.Ile109Asn) c.413T>A (p.Ile138Asn) | |
4 | g.52028099T>A | CA356876328 | SGCB | c.622A>T (p.Ile208Phe) c.325A>T (p.Ile109Phe) c.412A>T (p.Ile138Phe) | |
4 | g.52028099T>C | CA356876332 | SGCB | c.622A>G (p.Ile208Val) c.325A>G (p.Ile109Val) c.412A>G (p.Ile138Val) | |
4 | g.52028099T>G | CA356876329 | SGCB | c.622A>C (p.Ile208Leu) c.325A>C (p.Ile109Leu) c.412A>C (p.Ile138Leu) | |
4 | g.52028100C>A | CA356876335 | SGCB | c.622-1G>T (n.622-1G>T) c.325-1G>T (n.325-1G>T) c.412-1G>T (n.412-1G>T) | ClinVar |
4 | g.52028100C>G | CA356876337 | SGCB | c.622-1G>C (n.622-1G>C) c.325-1G>C (n.325-1G>C) c.412-1G>C (n.412-1G>C) | ClinVar dbSNP |
4 | g.52028100C>T | CA356876339 | SGCB | c.622-1G>A (n.622-1G>A) c.325-1G>A (n.325-1G>A) c.412-1G>A (n.412-1G>A) | |
4 | g.52028100_52028101insCTTTCAGTAGATGCCTTT | CA2670598635 | SGCB | c.622-2_622-1insAAAGGCATCTACTGAAAG (n.622-2_622-1insAAAGGCATCTACTGAAAG) c.325-2_325-1insAAAGGCATCTACTGAAAG (n.325-2_325-1insAAAGGCATCTACTGAAAG) c.412-2_412-1insAAAGGCATCTACTGAAAG (n.412-2_412-1insAAAGGCATCTACTGAAAG) | gnomAD v4 |
4 | g.52028101T>A | CA356876341 | SGCB | c.622-2A>T (n.622-2A>T) c.325-2A>T (n.325-2A>T) c.412-2A>T (n.412-2A>T) | |
4 | g.52028101T>C | CA2918334 | SGCB | c.622-2A>G (n.622-2A>G) c.325-2A>G (n.325-2A>G) c.412-2A>G (n.412-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028101T>G | CA356876345 | SGCB | c.622-2A>C (n.622-2A>C) c.325-2A>C (n.325-2A>C) c.412-2A>C (n.412-2A>C) | |
4 | g.52028101T= | CA1457429171 | SGCB | c.622-2A= (n.622-2A=) c.325-2A= (n.325-2A=) c.412-2A= (n.412-2A=) | |
4 | g.52028106A= | CA1457429172 | SGCB | c.622-7T= (n.622-7T=) c.325-7T= (n.325-7T=) c.412-7T= (n.412-7T=) | |
4 | g.52028106A>C | CA2918335 | SGCB | c.622-7T>G (n.622-7T>G) c.325-7T>G (n.325-7T>G) c.412-7T>G (n.412-7T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028107T>C | CA2670598636 | SGCB | c.622-8A>G (n.622-8A>G) c.325-8A>G (n.325-8A>G) c.412-8A>G (n.412-8A>G) | gnomAD v4 |
4 | g.52028108T>C | CA2670598637 | SGCB | c.622-9A>G (n.622-9A>G) c.325-9A>G (n.325-9A>G) c.412-9A>G (n.412-9A>G) | gnomAD v4 |
4 | g.52028108T>G | CA796078615 | SGCB | c.622-9A>C (n.622-9A>C) c.325-9A>C (n.325-9A>C) c.412-9A>C (n.412-9A>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028108T= | CA1457429173 | SGCB | c.622-9A= (n.622-9A=) c.325-9A= (n.325-9A=) c.412-9A= (n.412-9A=) | |
4 | g.52028109T>C | CA2670598638 | SGCB | c.622-10A>G (n.622-10A>G) c.325-10A>G (n.325-10A>G) c.412-10A>G (n.412-10A>G) | ClinVar gnomAD v4 |
4 | g.52028109_52028110delinsTA | CA1457429174 | SGCB | c.622-11_622-10delinsTA (n.622-11_622-10delinsTA) c.325-11_325-10delinsTA (n.325-11_325-10delinsTA) c.412-11_412-10delinsTA (n.412-11_412-10delinsTA) | |
4 | g.52028110A= | CA1457429175 | SGCB | c.622-11T= (n.622-11T=) c.325-11T= (n.325-11T=) c.412-11T= (n.412-11T=) | |
4 | g.52028110A>T | CA2918336 | SGCB | c.622-11T>A (n.622-11T>A) c.325-11T>A (n.325-11T>A) c.412-11T>A (n.412-11T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028115dup | CA551340690 | SGCB | c.622-11dup (n.622-11dup) c.325-11dup (n.325-11dup) c.412-11dup (n.412-11dup) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028115del | CA796078620 | SGCB | c.622-11del (n.622-11del) c.325-11del (n.325-11del) c.412-11del (n.412-11del) | ClinVar dbSNP gnomAD v4 |
4 | g.52028111A= | CA1457429176 | SGCB | c.622-12T= (n.622-12T=) c.325-12T= (n.325-12T=) c.412-12T= (n.412-12T=) | |
4 | g.52028111A>C | CA2918337 | SGCB | c.622-12T>G (n.622-12T>G) c.325-12T>G (n.325-12T>G) c.412-12T>G (n.412-12T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028114A= | CA1457429177 | SGCB | c.622-15T= (n.622-15T=) c.325-15T= (n.325-15T=) c.412-15T= (n.412-15T=) | |
4 | g.52028114A>C | CA1062470155 | SGCB | c.622-15T>G (n.622-15T>G) c.325-15T>G (n.325-15T>G) c.412-15T>G (n.412-15T>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028115A= | CA1457429178 | SGCB | c.622-16T= (n.622-16T=) c.325-16T= (n.325-16T=) c.412-16T= (n.412-16T=) | |
4 | g.52028115A>G | CA2918338 | SGCB | c.622-16T>C (n.622-16T>C) c.325-16T>C (n.325-16T>C) c.412-16T>C (n.412-16T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028116C>A | CA2918339 | SGCB | c.622-17G>T (n.622-17G>T) c.325-17G>T (n.325-17G>T) c.412-17G>T (n.412-17G>T) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.52028116C= | CA1457429179 | SGCB | c.622-17G= (n.622-17G=) c.325-17G= (n.325-17G=) c.412-17G= (n.412-17G=) | |
4 | g.52028116C>G | CA551340704 | SGCB | c.622-17G>C (n.622-17G>C) c.325-17G>C (n.325-17G>C) c.412-17G>C (n.412-17G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028116C>T | CA551340708 | SGCB | c.622-17G>A (n.622-17G>A) c.325-17G>A (n.325-17G>A) c.412-17G>A (n.412-17G>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028118A>G | CA2578086612 | SGCB | c.622-19T>C (n.622-19T>C) c.325-19T>C (n.325-19T>C) c.412-19T>C (n.412-19T>C) | gnomAD v4 |
4 | g.52028121_52028132del | CA2573137891 | SGCB | c.622-30_622-19del (n.622-30_622-19del) c.325-30_325-19del (n.325-30_325-19del) c.412-30_412-19del (n.412-30_412-19del) | ClinVar dbSNP |
4 | g.52028119G>A | CA2761641251 | SGCB | c.622-20C>T (n.622-20C>T) c.325-20C>T (n.325-20C>T) c.412-20C>T (n.412-20C>T) | |
4 | g.52028119G= | CA1457429180 | SGCB | c.622-20C= (n.622-20C=) c.325-20C= (n.325-20C=) c.412-20C= (n.412-20C=) | |
4 | g.52028119G>T | CA96781042 | SGCB | c.622-20C>A (n.622-20C>A) c.325-20C>A (n.325-20C>A) c.412-20C>A (n.412-20C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028120T>A | CA2761641252 | SGCB | c.622-21A>T (n.622-21A>T) c.325-21A>T (n.325-21A>T) c.412-21A>T (n.412-21A>T) | |
4 | g.52028120T>C | CA551340711 | SGCB | c.622-21A>G (n.622-21A>G) c.325-21A>G (n.325-21A>G) c.412-21A>G (n.412-21A>G) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028120T= | CA1457429181 | SGCB | c.622-21A= (n.622-21A=) c.325-21A= (n.325-21A=) c.412-21A= (n.412-21A=) | |
4 | g.52028122C= | CA1457429182 | SGCB | c.622-23G= (n.622-23G=) c.325-23G= (n.325-23G=) c.412-23G= (n.412-23G=) | |
4 | g.52028122C>G | CA1457429183 | SGCB | c.622-23G>C (n.622-23G>C) c.325-23G>C (n.325-23G>C) c.412-23G>C (n.412-23G>C) | dbSNP gnomAD v4 |
4 | g.52028122C>T | CA2918340 | SGCB | c.622-23G>A (n.622-23G>A) c.325-23G>A (n.325-23G>A) c.412-23G>A (n.412-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028123T>A | CA2578086613 | SGCB | c.622-24A>T (n.622-24A>T) c.325-24A>T (n.325-24A>T) c.412-24A>T (n.412-24A>T) | |
4 | g.52028123T>C | CA96781062 | SGCB | c.622-24A>G (n.622-24A>G) c.325-24A>G (n.325-24A>G) c.412-24A>G (n.412-24A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028123T= | CA1457429184 | SGCB | c.622-24A= (n.622-24A=) c.325-24A= (n.325-24A=) c.412-24A= (n.412-24A=) | |
4 | g.52028124A= | CA1457429185 | SGCB | c.622-25T= (n.622-25T=) c.325-25T= (n.325-25T=) c.412-25T= (n.412-25T=) | |
4 | g.52028124A>G | CA2918341 | SGCB | c.622-25T>C (n.622-25T>C) c.325-25T>C (n.325-25T>C) c.412-25T>C (n.412-25T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028125A= | CA1457429186 | SGCB | c.622-26T= (n.622-26T=) c.325-26T= (n.325-26T=) c.412-26T= (n.412-26T=) | |
4 | g.52028125A>T | CA551340722 | SGCB | c.622-26T>A (n.622-26T>A) c.325-26T>A (n.325-26T>A) c.412-26T>A (n.412-26T>A) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028126A= | CA1457429187 | SGCB | c.622-27T= (n.622-27T=) c.325-27T= (n.325-27T=) c.412-27T= (n.412-27T=) | |
4 | g.52028126A>G | CA551340725 | SGCB | c.622-27T>C (n.622-27T>C) c.325-27T>C (n.325-27T>C) c.412-27T>C (n.412-27T>C) | dbSNP gnomAD v2 |
4 | g.52028127A= | CA1457429188 | SGCB | c.622-28T= (n.622-28T=) c.325-28T= (n.325-28T=) c.412-28T= (n.412-28T=) | |
4 | g.52028127A>G | CA551340730 | SGCB | c.622-28T>C (n.622-28T>C) c.325-28T>C (n.325-28T>C) c.412-28T>C (n.412-28T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028128A= | CA1457429189 | SGCB | c.622-29T= (n.622-29T=) c.325-29T= (n.325-29T=) c.412-29T= (n.412-29T=) | |
4 | g.52028128A>G | CA1457429190 | SGCB | c.622-29T>C (n.622-29T>C) c.325-29T>C (n.325-29T>C) c.412-29T>C (n.412-29T>C) | dbSNP |
4 | g.52028129G>C | CA439273843 | SGCB | c.622-30C>G (n.622-30C>G) c.325-30C>G (n.325-30C>G) c.412-30C>G (n.412-30C>G) | gnomAD v4 |
4 | g.52028129G>T | CA2670598639 | SGCB | c.622-30C>A (n.622-30C>A) c.325-30C>A (n.325-30C>A) c.412-30C>A (n.412-30C>A) | gnomAD v4 |
4 | g.52028131G>A | CA2918342 | SGCB | c.622-32C>T (n.622-32C>T) c.325-32C>T (n.325-32C>T) c.412-32C>T (n.412-32C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028131G= | CA1457429191 | SGCB | c.622-32C= (n.622-32C=) c.325-32C= (n.325-32C=) c.412-32C= (n.412-32C=) | |
4 | g.52028131G>T | CA2578086614 | SGCB | c.622-32C>A (n.622-32C>A) c.325-32C>A (n.325-32C>A) c.412-32C>A (n.412-32C>A) | gnomAD v4 |
4 | g.52028132T>C | CA2670598640 | SGCB | c.622-33A>G (n.622-33A>G) c.325-33A>G (n.325-33A>G) c.412-33A>G (n.412-33A>G) | gnomAD v4 |
4 | g.52028134T>C | CA2670598641 | SGCB | c.622-35A>G (n.622-35A>G) c.325-35A>G (n.325-35A>G) c.412-35A>G (n.412-35A>G) | gnomAD v4 |
4 | g.52028134T>G | CA2918343 | SGCB | c.622-35A>C (n.622-35A>C) c.325-35A>C (n.325-35A>C) c.412-35A>C (n.412-35A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028134T= | CA1457429192 | SGCB | c.622-35A= (n.622-35A=) c.325-35A= (n.325-35A=) c.412-35A= (n.412-35A=) | |
4 | g.52028135C= | CA1457429193 | SGCB | c.622-36G= (n.622-36G=) c.325-36G= (n.325-36G=) c.412-36G= (n.412-36G=) | |
4 | g.52028135C>G | CA96781077 | SGCB | c.622-36G>C (n.622-36G>C) c.325-36G>C (n.325-36G>C) c.412-36G>C (n.412-36G>C) | dbSNP gnomAD v4 |
4 | g.52028135C>T | CA2918344 | SGCB | c.622-36G>A (n.622-36G>A) c.325-36G>A (n.325-36G>A) c.412-36G>A (n.412-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028137A>G | CA2670598642 | SGCB | c.622-38T>C (n.622-38T>C) c.325-38T>C (n.325-38T>C) c.412-38T>C (n.412-38T>C) | gnomAD v4 |
4 | g.52028138A= | CA1457429194 | SGCB | c.622-39T= (n.622-39T=) c.325-39T= (n.325-39T=) c.412-39T= (n.412-39T=) | |
4 | g.52028138A>T | CA2918345 | SGCB | c.622-39T>A (n.622-39T>A) c.325-39T>A (n.325-39T>A) c.412-39T>A (n.412-39T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028140T>G | CA2670598643 | SGCB | c.622-41A>C (n.622-41A>C) c.325-41A>C (n.325-41A>C) c.412-41A>C (n.412-41A>C) | gnomAD v4 |
4 | g.52028143A>G | CA2670598644 | SGCB | c.622-44T>C (n.622-44T>C) c.325-44T>C (n.325-44T>C) c.412-44T>C (n.412-44T>C) | gnomAD v4 |