Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.52027983_52027994del | CA2670598630 | SGCB | c.731_742del (p.Gly244_Met247del) c.434_445del (p.Gly145_Met148del) c.521_532del (p.Gly174_Met177del) | gnomAD v4 |
4 | g.52027988dup | CA2695199374 | SGCB | c.734dup (p.Asn246Ter) c.437dup (p.Asn147Ter) c.524dup (p.Asn176Ter) | ClinVar |
4 | g.52027988C>A | CA356875779 | SGCB | c.733G>T (p.Gly245Cys) c.436G>T (p.Gly146Cys) c.523G>T (p.Gly175Cys) | |
4 | g.52027988C>G | CA356875777 | SGCB | c.733G>C (p.Gly245Arg) c.436G>C (p.Gly146Arg) c.523G>C (p.Gly175Arg) | |
4 | g.52027988C>T | CA356875778 | SGCB | c.733G>A (p.Gly245Ser) c.436G>A (p.Gly146Ser) c.523G>A (p.Gly175Ser) | |
4 | g.52027989A>C | CA439273624 | SGCB | c.732T>G (p.Gly244=) c.435T>G (p.Gly145=) c.522T>G (p.Gly174=) | |
4 | g.52027989A>G | CA439273626 | SGCB | c.732T>C (p.Gly244=) c.435T>C (p.Gly145=) c.522T>C (p.Gly174=) | |
4 | g.52027989A>T | CA439273627 | SGCB | c.732T>A (p.Gly244=) c.435T>A (p.Gly145=) c.522T>A (p.Gly174=) | |
4 | g.52027990C>A | CA356875780 | SGCB | c.731G>T (p.Gly244Val) c.434G>T (p.Gly145Val) c.521G>T (p.Gly174Val) | gnomAD v4 |
4 | g.52027990C= | CA1457429123 | SGCB | c.731G= (p.Gly244=) c.434G= (p.Gly145=) c.521G= (p.Gly174=) | |
4 | g.52027990C>G | CA356875781 | SGCB | c.731G>C (p.Gly244Ala) c.434G>C (p.Gly145Ala) c.521G>C (p.Gly174Ala) | |
4 | g.52027990C>T | CA2918309 | SGCB | c.731G>A (p.Gly244Asp) c.434G>A (p.Gly145Asp) c.521G>A (p.Gly174Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027991C>A | CA356875784 | SGCB | c.730G>T (p.Gly244Cys) c.433G>T (p.Gly145Cys) c.520G>T (p.Gly174Cys) | |
4 | g.52027991C>G | CA356875783 | SGCB | c.730G>C (p.Gly244Arg) c.433G>C (p.Gly145Arg) c.520G>C (p.Gly174Arg) | gnomAD v4 |
4 | g.52027991C>T | CA356875782 | SGCB | c.730G>A (p.Gly244Ser) c.433G>A (p.Gly145Ser) c.520G>A (p.Gly174Ser) | |
4 | g.52027992C>A | CA356875785 | SGCB | c.729G>T (p.Met243Ile) c.432G>T (p.Met144Ile) c.519G>T (p.Met173Ile) | |
4 | g.52027992C>G | CA356875786 | SGCB | c.729G>C (p.Met243Ile) c.432G>C (p.Met144Ile) c.519G>C (p.Met173Ile) | ClinVar dbSNP gnomAD v4 |
4 | g.52027992C>T | CA356875787 | SGCB | c.729G>A (p.Met243Ile) c.432G>A (p.Met144Ile) c.519G>A (p.Met173Ile) | |
4 | g.52027993A>C | CA356875788 | SGCB | c.728T>G (p.Met243Arg) c.431T>G (p.Met144Arg) c.518T>G (p.Met173Arg) | |
4 | g.52027993A>G | CA356875789 | SGCB | c.728T>C (p.Met243Thr) c.431T>C (p.Met144Thr) c.518T>C (p.Met173Thr) | |
4 | g.52027993A>T | CA356875790 | SGCB | c.728T>A (p.Met243Lys) c.431T>A (p.Met144Lys) c.518T>A (p.Met173Lys) | |
4 | g.52027994T>A | CA356875791 | SGCB | c.727A>T (p.Met243Leu) c.430A>T (p.Met144Leu) c.517A>T (p.Met173Leu) | gnomAD v4 |
4 | g.52027994T>C | CA2918310 | SGCB | c.727A>G (p.Met243Val) c.430A>G (p.Met144Val) c.517A>G (p.Met173Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52027994T>G | CA356875792 | SGCB | c.727A>C (p.Met243Leu) c.430A>C (p.Met144Leu) c.517A>C (p.Met173Leu) | |
4 | g.52027994T= | CA1457429124 | SGCB | c.727A= (p.Met243=) c.430A= (p.Met144=) c.517A= (p.Met173=) | |
4 | g.52027995G>A | CA2918311 | SGCB | c.726C>T (p.His242=) c.429C>T (p.His143=) c.516C>T (p.His172=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52027995G>C | CA356875793 | SGCB | c.726C>G (p.His242Gln) c.429C>G (p.His143Gln) c.516C>G (p.His172Gln) | |
4 | g.52027995G= | CA1457429125 | SGCB | c.726C= (p.His242=) c.429C= (p.His143=) c.516C= (p.His172=) | |
4 | g.52027995G>T | CA356875794 | SGCB | c.726C>A (p.His242Gln) c.429C>A (p.His143Gln) c.516C>A (p.His172Gln) | |
4 | g.52027996T>A | CA356875795 | SGCB | c.725A>T (p.His242Leu) c.428A>T (p.His143Leu) c.515A>T (p.His172Leu) | |
4 | g.52027996T>C | CA356875796 | SGCB | c.725A>G (p.His242Arg) c.428A>G (p.His143Arg) c.515A>G (p.His172Arg) | |
4 | g.52027996T>G | CA356875797 | SGCB | c.725A>C (p.His242Pro) c.428A>C (p.His143Pro) c.515A>C (p.His172Pro) | ClinVar dbSNP gnomAD v4 |
4 | g.52027996T= | CA1457429126 | SGCB | c.725A= (p.His242=) c.428A= (p.His143=) c.515A= (p.His172=) | |
4 | g.52027997G>A | CA356875798 | SGCB | c.724C>T (p.His242Tyr) c.427C>T (p.His143Tyr) c.514C>T (p.His172Tyr) | |
4 | g.52027997G>C | CA356875799 | SGCB | c.724C>G (p.His242Asp) c.427C>G (p.His143Asp) c.514C>G (p.His172Asp) | |
4 | g.52027997G>T | CA356875800 | SGCB | c.724C>A (p.His242Asn) c.427C>A (p.His143Asn) c.514C>A (p.His172Asn) | |
4 | g.52027998A>C | CA356875801 | SGCB | c.723T>G (p.Phe241Leu) c.426T>G (p.Phe142Leu) c.513T>G (p.Phe171Leu) | gnomAD v4 |
4 | g.52027998A>G | CA439273636 | SGCB | c.723T>C (p.Phe241=) c.426T>C (p.Phe142=) c.513T>C (p.Phe171=) | |
4 | g.52027998A>T | CA356875802 | SGCB | c.723T>A (p.Phe241Leu) c.426T>A (p.Phe142Leu) c.513T>A (p.Phe171Leu) | |
4 | g.52027999A>C | CA356875805 | SGCB | c.722T>G (p.Phe241Cys) c.425T>G (p.Phe142Cys) c.512T>G (p.Phe171Cys) | |
4 | g.52027999A>G | CA356875804 | SGCB | c.722T>C (p.Phe241Ser) c.425T>C (p.Phe142Ser) c.512T>C (p.Phe171Ser) | |
4 | g.52027999A>T | CA356875803 | SGCB | c.722T>A (p.Phe241Tyr) c.425T>A (p.Phe142Tyr) c.512T>A (p.Phe171Tyr) | |
4 | g.52028000A= | CA1457429127 | SGCB | c.721T= (p.Phe241=) c.424T= (p.Phe142=) c.511T= (p.Phe171=) | |
4 | g.52028000A>C | CA356875806 | SGCB | c.721T>G (p.Phe241Val) c.424T>G (p.Phe142Val) c.511T>G (p.Phe171Val) | |
4 | g.52028000A>G | CA356875807 | SGCB | c.721T>C (p.Phe241Leu) c.424T>C (p.Phe142Leu) c.511T>C (p.Phe171Leu) | |
4 | g.52028000A>T | CA356875808 | SGCB | c.721T>A (p.Phe241Ile) c.424T>A (p.Phe142Ile) c.511T>A (p.Phe171Ile) | dbSNP |
4 | g.52028001T>A | CA356875809 | SGCB | c.720A>T (p.Glu240Asp) c.423A>T (p.Glu141Asp) c.510A>T (p.Glu170Asp) | |
4 | g.52028001T>C | CA439273639 | SGCB | c.720A>G (p.Glu240=) c.423A>G (p.Glu141=) c.510A>G (p.Glu170=) | |
4 | g.52028001T>G | CA356875810 | SGCB | c.720A>C (p.Glu240Asp) c.423A>C (p.Glu141Asp) c.510A>C (p.Glu170Asp) | |
4 | g.52028002T>A | CA2918312 | SGCB | c.719A>T (p.Glu240Val) c.422A>T (p.Glu141Val) c.509A>T (p.Glu170Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028002T>C | CA356875811 | SGCB | c.719A>G (p.Glu240Gly) c.422A>G (p.Glu141Gly) c.509A>G (p.Glu170Gly) | |
4 | g.52028002T>G | CA356875812 | SGCB | c.719A>C (p.Glu240Ala) c.422A>C (p.Glu141Ala) c.509A>C (p.Glu170Ala) | gnomAD v4 |
4 | g.52028002T= | CA1457429128 | SGCB | c.719A= (p.Glu240=) c.422A= (p.Glu141=) c.509A= (p.Glu170=) | |
4 | g.52028003C>A | CA356875813 | SGCB | c.718G>T (p.Glu240Ter) c.421G>T (p.Glu141Ter) c.508G>T (p.Glu170Ter) | |
4 | g.52028003C= | CA1457429129 | SGCB | c.718G= (p.Glu240=) c.421G= (p.Glu141=) c.508G= (p.Glu170=) | |
4 | g.52028003C>G | CA356875814 | SGCB | c.718G>C (p.Glu240Gln) c.421G>C (p.Glu141Gln) c.508G>C (p.Glu170Gln) | |
4 | g.52028003C>T | CA356875815 | SGCB | c.718G>A (p.Glu240Lys) c.421G>A (p.Glu141Lys) c.508G>A (p.Glu170Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.52028004A>C | CA356875816 | SGCB | c.717T>G (p.Ile239Met) c.420T>G (p.Ile140Met) c.507T>G (p.Ile169Met) | |
4 | g.52028004A>G | CA439273644 | SGCB | c.717T>C (p.Ile239=) c.420T>C (p.Ile140=) c.507T>C (p.Ile169=) | |
4 | g.52028004A>T | CA439273645 | SGCB | c.717T>A (p.Ile239=) c.420T>A (p.Ile140=) c.507T>A (p.Ile169=) | |
4 | g.52028005A= | CA1457429130 | SGCB | c.716T= (p.Ile239=) c.419T= (p.Ile140=) c.506T= (p.Ile169=) | |
4 | g.52028005A>C | CA356875818 | SGCB | c.716T>G (p.Ile239Ser) c.419T>G (p.Ile140Ser) c.506T>G (p.Ile169Ser) | |
4 | g.52028005A>G | CA2918313 | SGCB | c.716T>C (p.Ile239Thr) c.419T>C (p.Ile140Thr) c.506T>C (p.Ile169Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028005A>T | CA356875817 | SGCB | c.716T>A (p.Ile239Asn) c.419T>A (p.Ile140Asn) c.506T>A (p.Ile169Asn) | |
4 | g.52028006T>A | CA356875819 | SGCB | c.715A>T (p.Ile239Phe) c.418A>T (p.Ile140Phe) c.505A>T (p.Ile169Phe) | |
4 | g.52028006T>C | CA96776361 | SGCB | c.715A>G (p.Ile239Val) c.418A>G (p.Ile140Val) c.505A>G (p.Ile169Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028006T>G | CA356875820 | SGCB | c.715A>C (p.Ile239Leu) c.418A>C (p.Ile140Leu) c.505A>C (p.Ile169Leu) | |
4 | g.52028006T= | CA1457429131 | SGCB | c.715A= (p.Ile239=) c.418A= (p.Ile140=) c.505A= (p.Ile169=) | |
4 | g.52028007G>A | CA439273651 | SGCB | c.714C>T (p.Thr238=) c.417C>T (p.Thr139=) c.504C>T (p.Thr168=) | COSMIC |
4 | g.52028007G>C | CA439273653 | SGCB | c.714C>G (p.Thr238=) c.417C>G (p.Thr139=) c.504C>G (p.Thr168=) | |
4 | g.52028007G>T | CA439273652 | SGCB | c.714C>A (p.Thr238=) c.417C>A (p.Thr139=) c.504C>A (p.Thr168=) | |
4 | g.52028008G>A | CA356875821 | SGCB | c.713C>T (p.Thr238Ile) c.416C>T (p.Thr139Ile) c.503C>T (p.Thr168Ile) | |
4 | g.52028008G>C | CA356875822 | SGCB | c.713C>G (p.Thr238Ser) c.416C>G (p.Thr139Ser) c.503C>G (p.Thr168Ser) | |
4 | g.52028008G>T | CA356875823 | SGCB | c.713C>A (p.Thr238Asn) c.416C>A (p.Thr139Asn) c.503C>A (p.Thr168Asn) | |
4 | g.52028009T>A | CA356875824 | SGCB | c.712A>T (p.Thr238Ser) c.415A>T (p.Thr139Ser) c.502A>T (p.Thr168Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028009T>C | CA356875826 | SGCB | c.712A>G (p.Thr238Ala) c.415A>G (p.Thr139Ala) c.502A>G (p.Thr168Ala) | |
4 | g.52028009T>G | CA356875825 | SGCB | c.712A>C (p.Thr238Pro) c.415A>C (p.Thr139Pro) c.502A>C (p.Thr168Pro) | |
4 | g.52028009T= | CA1457429132 | SGCB | c.712A= (p.Thr238=) c.415A= (p.Thr139=) c.502A= (p.Thr168=) | |
4 | g.52028010T>A | CA356875827 | SGCB | c.711A>T (p.Lys237Asn) c.414A>T (p.Lys138Asn) c.501A>T (p.Lys167Asn) | |
4 | g.52028010T>C | CA439273660 | SGCB | c.711A>G (p.Lys237=) c.414A>G (p.Lys138=) c.501A>G (p.Lys167=) | |
4 | g.52028010T>G | CA356875828 | SGCB | c.711A>C (p.Lys237Asn) c.414A>C (p.Lys138Asn) c.501A>C (p.Lys167Asn) | |
4 | g.52028011T>A | CA356875829 | SGCB | c.710A>T (p.Lys237Ile) c.413A>T (p.Lys138Ile) c.500A>T (p.Lys167Ile) | |
4 | g.52028011T>C | CA356875830 | SGCB | c.710A>G (p.Lys237Arg) c.413A>G (p.Lys138Arg) c.500A>G (p.Lys167Arg) | |
4 | g.52028011T>G | CA356875831 | SGCB | c.710A>C (p.Lys237Thr) c.413A>C (p.Lys138Thr) c.500A>C (p.Lys167Thr) | |
4 | g.52028012T>A | CA356875833 | SGCB | c.709A>T (p.Lys237Ter) c.412A>T (p.Lys138Ter) c.499A>T (p.Lys167Ter) | |
4 | g.52028012T>C | CA356875834 | SGCB | c.709A>G (p.Lys237Glu) c.412A>G (p.Lys138Glu) c.499A>G (p.Lys167Glu) | |
4 | g.52028012T>G | CA356875832 | SGCB | c.709A>C (p.Lys237Gln) c.412A>C (p.Lys138Gln) c.499A>C (p.Lys167Gln) | |
4 | g.52028013G>A | CA2918314 | SGCB | c.708C>T (p.Gly236=) c.411C>T (p.Gly137=) c.498C>T (p.Gly166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028013G>C | CA439273663 | SGCB | c.708C>G (p.Gly236=) c.411C>G (p.Gly137=) c.498C>G (p.Gly166=) | |
4 | g.52028013G= | CA1457429133 | SGCB | c.708C= (p.Gly236=) c.411C= (p.Gly137=) c.498C= (p.Gly166=) | |
4 | g.52028013G>T | CA439273664 | SGCB | c.708C>A (p.Gly236=) c.411C>A (p.Gly137=) c.498C>A (p.Gly166=) | |
4 | g.52028024_52028025insAAGCCCATAATGAA | CA2580071061 | SGCB | c.708_709insTTTTCATTATGGGC (p.Lys237PhefsTer18) c.411_412insTTTTCATTATGGGC (p.Lys138PhefsTer18) c.498_499insTTTTCATTATGGGC (p.Lys167PhefsTer18) | ClinVar |
4 | g.52028014C>A | CA356875835 | SGCB | c.707G>T (p.Gly236Val) c.410G>T (p.Gly137Val) c.497G>T (p.Gly166Val) | |
4 | g.52028014C= | CA1457429134 | SGCB | c.707G= (p.Gly236=) c.410G= (p.Gly137=) c.497G= (p.Gly166=) | |
4 | g.52028014C>G | CA356875837 | SGCB | c.707G>C (p.Gly236Ala) c.410G>C (p.Gly137Ala) c.497G>C (p.Gly166Ala) | |
4 | g.52028014C>T | CA356875836 | SGCB | c.707G>A (p.Gly236Asp) c.410G>A (p.Gly137Asp) c.497G>A (p.Gly166Asp) | ClinVar dbSNP gnomAD v4 |
4 | g.52028015C>A | CA356875838 | SGCB | c.706G>T (p.Gly236Cys) c.409G>T (p.Gly137Cys) c.496G>T (p.Gly166Cys) | |
4 | g.52028015C>G | CA356875840 | SGCB | c.706G>C (p.Gly236Arg) c.409G>C (p.Gly137Arg) c.496G>C (p.Gly166Arg) | |
4 | g.52028015C>T | CA356875839 | SGCB | c.706G>A (p.Gly236Ser) c.409G>A (p.Gly137Ser) c.496G>A (p.Gly166Ser) | |
4 | g.52028016C>A | CA356875841 | SGCB | c.705G>T (p.Met235Ile) c.408G>T (p.Met136Ile) c.495G>T (p.Met165Ile) | |
4 | g.52028016C= | CA1457429135 | SGCB | c.705G= (p.Met235=) c.408G= (p.Met136=) c.495G= (p.Met165=) | |
4 | g.52028016C>G | CA356875843 | SGCB | c.705G>C (p.Met235Ile) c.408G>C (p.Met136Ile) c.495G>C (p.Met165Ile) | gnomAD v4 |
4 | g.52028016C>T | CA356875842 | SGCB | c.705G>A (p.Met235Ile) c.408G>A (p.Met136Ile) c.495G>A (p.Met165Ile) | dbSNP |
4 | g.52028017A>C | CA356875844 | SGCB | c.704T>G (p.Met235Arg) c.407T>G (p.Met136Arg) c.494T>G (p.Met165Arg) | |
4 | g.52028017A>G | CA356875845 | SGCB | c.704T>C (p.Met235Thr) c.407T>C (p.Met136Thr) c.494T>C (p.Met165Thr) | gnomAD v3 gnomAD v4 |
4 | g.52028017A>T | CA356875846 | SGCB | c.704T>A (p.Met235Lys) c.407T>A (p.Met136Lys) c.494T>A (p.Met165Lys) | |
4 | g.52028018T>A | CA356875847 | SGCB | c.703A>T (p.Met235Leu) c.406A>T (p.Met136Leu) c.493A>T (p.Met165Leu) | |
4 | g.52028018T>C | CA356875848 | SGCB | c.703A>G (p.Met235Val) c.406A>G (p.Met136Val) c.493A>G (p.Met165Val) | gnomAD v4 |
4 | g.52028018T>G | CA356875849 | SGCB | c.703A>C (p.Met235Leu) c.406A>C (p.Met136Leu) c.493A>C (p.Met165Leu) | |
4 | g.52028018dup | CA2695199375 | SGCB | c.703dup (p.Met235AsnfsTer6) c.406dup (p.Met136AsnfsTer6) c.493dup (p.Met165AsnfsTer6) | ClinVar |
4 | g.52028018_52028022delinsTAATG | CA1457429136 | SGCB | c.699_703delinsCATTA (p.Phe233=) c.402_406delinsCATTA (p.Phe134=) c.489_493delinsCATTA (p.Phe163=) | |
4 | g.52028019A>C | CA356875850 | SGCB | c.702T>G (p.Ile234Met) c.405T>G (p.Ile135Met) c.492T>G (p.Ile164Met) | |
4 | g.52028019A>G | CA439273673 | SGCB | c.702T>C (p.Ile234=) c.405T>C (p.Ile135=) c.492T>C (p.Ile164=) | COSMIC |
4 | g.52028019A>T | CA439273674 | SGCB | c.702T>A (p.Ile234=) c.405T>A (p.Ile135=) c.492T>A (p.Ile164=) | |
4 | g.52028019_52028020del | CA2670598631 | SGCB | c.701_702del (p.Ile234AsnfsTer6) c.404_405del (p.Ile135AsnfsTer6) c.491_492del (p.Ile164AsnfsTer6) | gnomAD v4 |
4 | g.52028022_52028025del | CA16040953 | SGCB | c.699_702del (p.Phe233LeufsTer16) c.402_405del (p.Phe134LeufsTer16) c.489_492del (p.Phe163LeufsTer16) | ClinVar dbSNP |
4 | g.52028020A>C | CA356875851 | SGCB | c.701T>G (p.Ile234Ser) c.404T>G (p.Ile135Ser) c.491T>G (p.Ile164Ser) | |
4 | g.52028020A>G | CA356875852 | SGCB | c.701T>C (p.Ile234Thr) c.404T>C (p.Ile135Thr) c.491T>C (p.Ile164Thr) | |
4 | g.52028020A>T | CA356875853 | SGCB | c.701T>A (p.Ile234Asn) c.404T>A (p.Ile135Asn) c.491T>A (p.Ile164Asn) | |
4 | g.52028021T>A | CA356875854 | SGCB | c.700A>T (p.Ile234Phe) c.403A>T (p.Ile135Phe) c.490A>T (p.Ile164Phe) | |
4 | g.52028021T>C | CA356875856 | SGCB | c.700A>G (p.Ile234Val) c.403A>G (p.Ile135Val) c.490A>G (p.Ile164Val) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028021T>G | CA356875855 | SGCB | c.700A>C (p.Ile234Leu) c.403A>C (p.Ile135Leu) c.490A>C (p.Ile164Leu) | |
4 | g.52028021T= | CA1457429137 | SGCB | c.700A= (p.Ile234=) c.403A= (p.Ile135=) c.490A= (p.Ile164=) | |
4 | g.52028022G>A | CA439273677 | SGCB | c.699C>T (p.Phe233=) c.402C>T (p.Phe134=) c.489C>T (p.Phe163=) | dbSNP |
4 | g.52028022G>C | CA356875857 | SGCB | c.699C>G (p.Phe233Leu) c.402C>G (p.Phe134Leu) c.489C>G (p.Phe163Leu) | |
4 | g.52028022G= | CA1457429138 | SGCB | c.699C= (p.Phe233=) c.402C= (p.Phe134=) c.489C= (p.Phe163=) | |
4 | g.52028022G>T | CA356875858 | SGCB | c.699C>A (p.Phe233Leu) c.402C>A (p.Phe134Leu) c.489C>A (p.Phe163Leu) | |
4 | g.52028023A= | CA1457429140 | SGCB | c.698T= (p.Phe233=) c.401T= (p.Phe134=) c.488T= (p.Phe163=) | |
4 | g.52028023A>C | CA356875859 | SGCB | c.698T>G (p.Phe233Cys) c.401T>G (p.Phe134Cys) c.488T>G (p.Phe163Cys) | |
4 | g.52028023A>G | CA356875860 | SGCB | c.698T>C (p.Phe233Ser) c.401T>C (p.Phe134Ser) c.488T>C (p.Phe163Ser) | ClinVar dbSNP gnomAD v4 |
4 | g.52028023A>T | CA356875861 | SGCB | c.698T>A (p.Phe233Tyr) c.401T>A (p.Phe134Tyr) c.488T>A (p.Phe163Tyr) | gnomAD v4 |
4 | g.52028023_52028033delinsAATACACCTTC | CA1457429139 | SGCB | c.688_698delinsGAAGGTGTATT (p.Glu230=) c.391_401delinsGAAGGTGTATT (p.Glu131=) c.478_488delinsGAAGGTGTATT (p.Glu160=) | |
4 | g.52028024A>C | CA356875973 | SGCB | c.697T>G (p.Phe233Val) c.400T>G (p.Phe134Val) c.487T>G (p.Phe163Val) | |
4 | g.52028024A>G | CA356875975 | SGCB | c.697T>C (p.Phe233Leu) c.400T>C (p.Phe134Leu) c.487T>C (p.Phe163Leu) | |
4 | g.52028024A>T | CA356875977 | SGCB | c.697T>A (p.Phe233Ile) c.400T>A (p.Phe134Ile) c.487T>A (p.Phe163Ile) | |
4 | g.52028026_52028035del | CA2918315 | SGCB | c.688_697del (p.Glu230SerfsTer17) c.391_400del (p.Glu131SerfsTer17) c.478_487del (p.Glu160SerfsTer17) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028025T>A | CA439273742 | SGCB | c.696A>T (p.Val232=) c.399A>T (p.Val133=) c.486A>T (p.Val162=) | |
4 | g.52028025T>C | CA439273743 | SGCB | c.696A>G (p.Val232=) c.399A>G (p.Val133=) c.486A>G (p.Val162=) | |
4 | g.52028025T>G | CA439273744 | SGCB | c.696A>C (p.Val232=) c.399A>C (p.Val133=) c.486A>C (p.Val162=) | |
4 | g.52028025_52028026insTT | CA2670598632 | SGCB | c.696_697insAA (p.Phe233AsnfsTer18) c.399_400insAA (p.Phe134AsnfsTer18) c.486_487insAA (p.Phe163AsnfsTer18) | gnomAD v4 |
4 | g.52028026A= | CA1457429141 | SGCB | c.695T= (p.Val232=) c.398T= (p.Val133=) c.485T= (p.Val162=) | |
4 | g.52028026A>C | CA356875983 | SGCB | c.695T>G (p.Val232Gly) c.398T>G (p.Val133Gly) c.485T>G (p.Val162Gly) | gnomAD v4 |
4 | g.52028026A>G | CA2918316 | SGCB | c.695T>C (p.Val232Ala) c.398T>C (p.Val133Ala) c.485T>C (p.Val162Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028026A>T | CA356875980 | SGCB | c.695T>A (p.Val232Glu) c.398T>A (p.Val133Glu) c.485T>A (p.Val162Glu) | |
4 | g.52028027C>A | CA356875985 | SGCB | c.694G>T (p.Val232Leu) c.397G>T (p.Val133Leu) c.484G>T (p.Val162Leu) | |
4 | g.52028027C= | CA1457429142 | SGCB | c.694G= (p.Val232=) c.397G= (p.Val133=) c.484G= (p.Val162=) | |
4 | g.52028027C>G | CA356875987 | SGCB | c.694G>C (p.Val232Leu) c.397G>C (p.Val133Leu) c.484G>C (p.Val162Leu) | |
4 | g.52028027C>T | CA356875988 | SGCB | c.694G>A (p.Val232Ile) c.397G>A (p.Val133Ile) c.484G>A (p.Val162Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028028A>C | CA439273746 | SGCB | c.693T>G (p.Gly231=) c.396T>G (p.Gly132=) c.483T>G (p.Gly161=) | |
4 | g.52028028A>G | CA439273747 | SGCB | c.693T>C (p.Gly231=) c.396T>C (p.Gly132=) c.483T>C (p.Gly161=) | |
4 | g.52028028A>T | CA439273748 | SGCB | c.693T>A (p.Gly231=) c.396T>A (p.Gly132=) c.483T>A (p.Gly161=) | |
4 | g.52028029C>A | CA356875991 | SGCB | c.692G>T (p.Gly231Val) c.395G>T (p.Gly132Val) c.482G>T (p.Gly161Val) | COSMIC |
4 | g.52028029C= | CA1457429143 | SGCB | c.692G= (p.Gly231=) c.395G= (p.Gly132=) c.482G= (p.Gly161=) | |
4 | g.52028029C>G | CA356875992 | SGCB | c.692G>C (p.Gly231Ala) c.395G>C (p.Gly132Ala) c.482G>C (p.Gly161Ala) | |
4 | g.52028029C>T | CA2918317 | SGCB | c.692G>A (p.Gly231Asp) c.395G>A (p.Gly132Asp) c.482G>A (p.Gly161Asp) | dbSNP ExAC gnomAD v2 |
4 | g.52028030C>A | CA356875997 | SGCB | c.691G>T (p.Gly231Cys) c.394G>T (p.Gly132Cys) c.481G>T (p.Gly161Cys) | |
4 | g.52028030C>G | CA356875999 | SGCB | c.691G>C (p.Gly231Arg) c.394G>C (p.Gly132Arg) c.481G>C (p.Gly161Arg) | |
4 | g.52028030C>T | CA356876001 | SGCB | c.691G>A (p.Gly231Ser) c.394G>A (p.Gly132Ser) c.481G>A (p.Gly161Ser) | ClinVar |
4 | g.52028031T>A | CA356876003 | SGCB | c.690A>T (p.Glu230Asp) c.393A>T (p.Glu131Asp) c.480A>T (p.Glu160Asp) | |
4 | g.52028031T>C | CA439273750 | SGCB | c.690A>G (p.Glu230=) c.393A>G (p.Glu131=) c.480A>G (p.Glu160=) | |
4 | g.52028031T>G | CA356876006 | SGCB | c.690A>C (p.Glu230Asp) c.393A>C (p.Glu131Asp) c.480A>C (p.Glu160Asp) | ClinVar |
4 | g.52028032T>A | CA356876011 | SGCB | c.689A>T (p.Glu230Val) c.392A>T (p.Glu131Val) c.479A>T (p.Glu160Val) | gnomAD v4 |
4 | g.52028032T>C | CA356876010 | SGCB | c.689A>G (p.Glu230Gly) c.392A>G (p.Glu131Gly) c.479A>G (p.Glu160Gly) | |
4 | g.52028032T>G | CA356876008 | SGCB | c.689A>C (p.Glu230Ala) c.392A>C (p.Glu131Ala) c.479A>C (p.Glu160Ala) | |
4 | g.52028033C>A | CA356876014 | SGCB | c.688G>T (p.Glu230Ter) c.391G>T (p.Glu131Ter) c.478G>T (p.Glu160Ter) | gnomAD v4 |
4 | g.52028033C>G | CA356876016 | SGCB | c.688G>C (p.Glu230Gln) c.391G>C (p.Glu131Gln) c.478G>C (p.Glu160Gln) | |
4 | g.52028033C>T | CA356876017 | SGCB | c.688G>A (p.Glu230Lys) c.391G>A (p.Glu131Lys) c.478G>A (p.Glu160Lys) | |
4 | g.52028034A= | CA1457429144 | SGCB | c.687T= (p.Asn229=) c.390T= (p.Asn130=) c.477T= (p.Asn159=) | |
4 | g.52028034A>C | CA356876020 | SGCB | c.687T>G (p.Asn229Lys) c.390T>G (p.Asn130Lys) c.477T>G (p.Asn159Lys) | |
4 | g.52028034A>G | CA2918318 | SGCB | c.687T>C (p.Asn229=) c.390T>C (p.Asn130=) c.477T>C (p.Asn159=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028034A>T | CA356876023 | SGCB | c.687T>A (p.Asn229Lys) c.390T>A (p.Asn130Lys) c.477T>A (p.Asn159Lys) | |
4 | g.52028034dup | CA2670598633 | SGCB | c.687dup (p.Glu230Ter) c.390dup (p.Glu131Ter) c.477dup (p.Glu160Ter) | gnomAD v4 |
4 | g.52028035T>A | CA356876024 | SGCB | c.686A>T (p.Asn229Ile) c.389A>T (p.Asn130Ile) c.476A>T (p.Asn159Ile) | |
4 | g.52028035T>C | CA356876025 | SGCB | c.686A>G (p.Asn229Ser) c.389A>G (p.Asn130Ser) c.476A>G (p.Asn159Ser) | |
4 | g.52028035T>G | CA356876026 | SGCB | c.686A>C (p.Asn229Thr) c.389A>C (p.Asn130Thr) c.476A>C (p.Asn159Thr) | |
4 | g.52028036T>A | CA356876029 | SGCB | c.685A>T (p.Asn229Tyr) c.388A>T (p.Asn130Tyr) c.475A>T (p.Asn159Tyr) | |
4 | g.52028036T>C | CA356876031 | SGCB | c.685A>G (p.Asn229Asp) c.388A>G (p.Asn130Asp) c.475A>G (p.Asn159Asp) | |
4 | g.52028036T>G | CA356876032 | SGCB | c.685A>C (p.Asn229His) c.388A>C (p.Asn130His) c.475A>C (p.Asn159His) | |
4 | g.52028037T>A | CA439273755 | SGCB | c.684A>T (p.Gly228=) c.387A>T (p.Gly129=) c.474A>T (p.Gly158=) | |
4 | g.52028037T>C | CA2918319 | SGCB | c.684A>G (p.Gly228=) c.387A>G (p.Gly129=) c.474A>G (p.Gly158=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028037T>G | CA439273754 | SGCB | c.684A>C (p.Gly228=) c.387A>C (p.Gly129=) c.474A>C (p.Gly158=) | |
4 | g.52028037T= | CA1457429145 | SGCB | c.684A= (p.Gly228=) c.387A= (p.Gly129=) c.474A= (p.Gly158=) | |
4 | g.52028038C>A | CA356876038 | SGCB | c.683G>T (p.Gly228Val) c.386G>T (p.Gly129Val) c.473G>T (p.Gly158Val) | |
4 | g.52028038C= | CA1457429146 | SGCB | c.683G= (p.Gly228=) c.386G= (p.Gly129=) c.473G= (p.Gly158=) | |
4 | g.52028038C>G | CA356876040 | SGCB | c.683G>C (p.Gly228Ala) c.386G>C (p.Gly129Ala) c.473G>C (p.Gly158Ala) | COSMIC |
4 | g.52028038C>T | CA356876035 | SGCB | c.683G>A (p.Gly228Glu) c.386G>A (p.Gly129Glu) c.473G>A (p.Gly158Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028039C>A | CA356876045 | SGCB | c.682G>T (p.Gly228Ter) c.385G>T (p.Gly129Ter) c.472G>T (p.Gly158Ter) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028039C= | CA1457429147 | SGCB | c.682G= (p.Gly228=) c.385G= (p.Gly129=) c.472G= (p.Gly158=) | |
4 | g.52028039C>G | CA356876042 | SGCB | c.682G>C (p.Gly228Arg) c.385G>C (p.Gly129Arg) c.472G>C (p.Gly158Arg) | |
4 | g.52028039C>T | CA356876043 | SGCB | c.682G>A (p.Gly228Arg) c.385G>A (p.Gly129Arg) c.472G>A (p.Gly158Arg) | |
4 | g.52028040A>C | CA439273757 | SGCB | c.681T>G (p.Arg227=) c.384T>G (p.Arg128=) c.471T>G (p.Arg157=) | |
4 | g.52028040A>G | CA439273758 | SGCB | c.681T>C (p.Arg227=) c.384T>C (p.Arg128=) c.471T>C (p.Arg157=) | |
4 | g.52028040A>T | CA439273759 | SGCB | c.681T>A (p.Arg227=) c.384T>A (p.Arg128=) c.471T>A (p.Arg157=) | ClinVar gnomAD v4 |
4 | g.52028041C>A | CA356876049 | SGCB | c.680G>T (p.Arg227Leu) c.383G>T (p.Arg128Leu) c.470G>T (p.Arg157Leu) | gnomAD v4 COSMIC |
4 | g.52028041C= | CA1457429148 | SGCB | c.680G= (p.Arg227=) c.383G= (p.Arg128=) c.470G= (p.Arg157=) | |
4 | g.52028041C>G | CA356876050 | SGCB | c.680G>C (p.Arg227Pro) c.383G>C (p.Arg128Pro) c.470G>C (p.Arg157Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.52028041C>T | CA2918320 | SGCB | c.680G>A (p.Arg227His) c.383G>A (p.Arg128His) c.470G>A (p.Arg157His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028042G>A | CA2918321 | SGCB | c.679C>T (p.Arg227Cys) c.382C>T (p.Arg128Cys) c.469C>T (p.Arg157Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028042G>C | CA356876055 | SGCB | c.679C>G (p.Arg227Gly) c.382C>G (p.Arg128Gly) c.469C>G (p.Arg157Gly) | gnomAD v4 |
4 | g.52028042G= | CA1457429149 | SGCB | c.679C= (p.Arg227=) c.382C= (p.Arg128=) c.469C= (p.Arg157=) | |
4 | g.52028042G>T | CA356876057 | SGCB | c.679C>A (p.Arg227Ser) c.382C>A (p.Arg128Ser) c.469C>A (p.Arg157Ser) | |
4 | g.52028043C>A | CA439273761 | SGCB | c.678G>T (p.Val226=) c.381G>T (p.Val127=) c.468G>T (p.Val156=) | |
4 | g.52028043C>G | CA439273762 | SGCB | c.678G>C (p.Val226=) c.381G>C (p.Val127=) c.468G>C (p.Val156=) | |
4 | g.52028043C>T | CA439273763 | SGCB | c.678G>A (p.Val226=) c.381G>A (p.Val127=) c.468G>A (p.Val156=) | ClinVar dbSNP gnomAD v4 |
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 |