Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.52028798_52028800delinsCAT | CA1457429545 | SGCB | c.551_553delinsATG (p.Tyr184=) c.634_636delinsATG c.254_256delinsATG (p.Tyr85=) c.341_343delinsATG (p.Tyr114=) | |
4 | g.52028799A= | CA1457429547 | SGCB | c.552T= (p.Tyr184=) c.635T= c.255T= (p.Tyr85=) c.342T= (p.Tyr114=) | |
4 | g.52028799A>C | CA119851 | SGCB | c.552T>G (p.Tyr184Ter) c.635T>G c.255T>G (p.Tyr85Ter) c.342T>G (p.Tyr114Ter) | ClinVar dbSNP |
4 | g.52028799A>G | CA439273983 | SGCB | c.552T>C (p.Tyr184=) c.635T>C c.255T>C (p.Tyr85=) c.342T>C (p.Tyr114=) | |
4 | g.52028799A>T | CA356876801 | SGCB | c.552T>A (p.Tyr184Ter) c.635T>A c.255T>A (p.Tyr85Ter) c.342T>A (p.Tyr114Ter) | |
4 | g.52028800_52028801del | CA16040954 | SGCB | c.551_552del (p.Tyr184Ter) c.634_635del c.254_255del (p.Tyr85Ter) c.341_342del (p.Tyr114Ter) | ClinVar dbSNP |
4 | g.52028800T>A | CA356876803 | SGCB | c.551A>T (p.Tyr184Phe) c.634A>T c.254A>T (p.Tyr85Phe) c.341A>T (p.Tyr114Phe) | |
4 | g.52028800T>C | CA356876804 | SGCB | c.551A>G (p.Tyr184Cys) c.634A>G c.254A>G (p.Tyr85Cys) c.341A>G (p.Tyr114Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028800T>G | CA356876806 | SGCB | c.551A>C (p.Tyr184Ser) c.634A>C c.254A>C (p.Tyr85Ser) c.341A>C (p.Tyr114Ser) | |
4 | g.52028800T= | CA1457429548 | SGCB | c.551A= (p.Tyr184=) c.634A= c.254A= (p.Tyr85=) c.341A= (p.Tyr114=) | |
4 | g.52028800_52028810del | CA2586973771 | SGCB | c.541_551del (p.Ser181Ter) c.624_634del c.244_254del (p.Ser82Ter) c.331_341del (p.Ser111Ter) | gnomAD v4 |
4 | g.52028801A= | CA1457429549 | SGCB | c.550T= (p.Tyr184=) c.633T= c.253T= (p.Tyr85=) c.340T= (p.Tyr114=) | |
4 | g.52028801A>C | CA356876810 | SGCB | c.550T>G (p.Tyr184Asp) c.633T>G c.253T>G (p.Tyr85Asp) c.340T>G (p.Tyr114Asp) | |
4 | g.52028801A>G | CA356876812 | SGCB | c.550T>C (p.Tyr184His) c.633T>C c.253T>C (p.Tyr85His) c.340T>C (p.Tyr114His) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028801A>T | CA356876814 | SGCB | c.550T>A (p.Tyr184Asn) c.633T>A c.253T>A (p.Tyr85Asn) c.340T>A (p.Tyr114Asn) | |
4 | g.52028802G>A | CA439273987 | SGCB | c.549C>T (p.Asp183=) c.632C>T c.252C>T (p.Asp84=) c.339C>T (p.Asp113=) | |
4 | g.52028802G>C | CA356876815 | SGCB | c.549C>G (p.Asp183Glu) c.632C>G c.252C>G (p.Asp84Glu) c.339C>G (p.Asp113Glu) | gnomAD v4 |
4 | g.52028802G>T | CA356876817 | SGCB | c.549C>A (p.Asp183Glu) c.632C>A c.252C>A (p.Asp84Glu) c.339C>A (p.Asp113Glu) | |
4 | g.52028803T>A | CA356876819 | SGCB | c.548A>T (p.Asp183Val) c.631A>T c.251A>T (p.Asp84Val) c.338A>T (p.Asp113Val) | |
4 | g.52028803T>C | CA356876820 | SGCB | c.548A>G (p.Asp183Gly) c.631A>G c.251A>G (p.Asp84Gly) c.338A>G (p.Asp113Gly) | |
4 | g.52028803T>G | CA356876821 | SGCB | c.548A>C (p.Asp183Ala) c.631A>C c.251A>C (p.Asp84Ala) c.338A>C (p.Asp113Ala) | |
4 | g.52028804C>A | CA356876827 | SGCB | c.547G>T (p.Asp183Tyr) c.630G>T c.250G>T (p.Asp84Tyr) c.337G>T (p.Asp113Tyr) | dbSNP |
4 | g.52028804C>G | CA356876825 | SGCB | c.547G>C (p.Asp183His) c.630G>C c.250G>C (p.Asp84His) c.337G>C (p.Asp113His) | |
4 | g.52028804C>T | CA356876823 | SGCB | c.547G>A (p.Asp183Asn) c.630G>A c.250G>A (p.Asp84Asn) c.337G>A (p.Asp113Asn) | |
4 | g.52028807_52028811del | CA2697546695 | SGCB | c.543_547del (p.Ser181ArgfsTer3) c.626_630del c.246_250del (p.Ser82ArgfsTer3) c.333_337del (p.Ser111ArgfsTer3) | ClinVar |
4 | g.52028805T>A | CA439273991 | SGCB | c.546A>T (p.Thr182=) c.629A>T c.249A>T (p.Thr83=) c.336A>T (p.Thr112=) | |
4 | g.52028805T>C | CA439273990 | SGCB | c.546A>G (p.Thr182=) c.629A>G c.249A>G (p.Thr83=) c.336A>G (p.Thr112=) | ClinVar gnomAD v4 |
4 | g.52028805T>G | CA439273989 | SGCB | c.546A>C (p.Thr182=) c.629A>C c.249A>C (p.Thr83=) c.336A>C (p.Thr112=) | |
4 | g.52028806G>A | CA356876829 | SGCB | c.545C>T (p.Thr182Ile) c.628C>T c.248C>T (p.Thr83Ile) c.335C>T (p.Thr112Ile) | COSMIC |
4 | g.52028806G>C | CA356876830 | SGCB | c.545C>G (p.Thr182Arg) c.628C>G c.248C>G (p.Thr83Arg) c.335C>G (p.Thr112Arg) | |
4 | g.52028806G= | CA1457429550 | SGCB | c.545C= (p.Thr182=) c.628C= c.248C= (p.Thr83=) c.335C= (p.Thr112=) | |
4 | g.52028806G>T | CA356876832 | SGCB | c.545C>A (p.Thr182Lys) c.628C>A c.248C>A (p.Thr83Lys) c.335C>A (p.Thr112Lys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.52028807T>A | CA356876834 | SGCB | c.544A>T (p.Thr182Ser) c.627A>T c.247A>T (p.Thr83Ser) c.334A>T (p.Thr112Ser) | |
4 | g.52028807T>C | CA356876835 | SGCB | c.544A>G (p.Thr182Ala) c.627A>G c.247A>G (p.Thr83Ala) c.334A>G (p.Thr112Ala) | ClinVar |
4 | g.52028807T>G | CA2918367 | SGCB | c.544A>C (p.Thr182Pro) c.627A>C c.247A>C (p.Thr83Pro) c.334A>C (p.Thr112Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028807T= | CA1457429551 | SGCB | c.544A= (p.Thr182=) c.627A= c.247A= (p.Thr83=) c.334A= (p.Thr112=) | |
4 | g.52028808G>A | CA2918368 | SGCB | c.543C>T (p.Ser181=) c.626C>T c.246C>T (p.Ser82=) c.333C>T (p.Ser111=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.52028808G>C | CA356876839 | SGCB | c.543C>G (p.Ser181Arg) c.626C>G c.246C>G (p.Ser82Arg) c.333C>G (p.Ser111Arg) | gnomAD v4 |
4 | g.52028808G= | CA1457429552 | SGCB | c.543C= (p.Ser181=) c.626C= c.246C= (p.Ser82=) c.333C= (p.Ser111=) | |
4 | g.52028808G>T | CA356876840 | SGCB | c.543C>A (p.Ser181Arg) c.626C>A c.246C>A (p.Ser82Arg) c.333C>A (p.Ser111Arg) | |
4 | g.52028809C>A | CA356876841 | SGCB | c.542G>T (p.Ser181Ile) c.625G>T c.245G>T (p.Ser82Ile) c.332G>T (p.Ser111Ile) | |
4 | g.52028809C>G | CA356876843 | SGCB | c.542G>C (p.Ser181Thr) c.625G>C c.245G>C (p.Ser82Thr) c.332G>C (p.Ser111Thr) | |
4 | g.52028809C>T | CA356876844 | SGCB | c.542G>A (p.Ser181Asn) c.625G>A c.245G>A (p.Ser82Asn) c.332G>A (p.Ser111Asn) | |
4 | g.52028810T>A | CA356876848 | SGCB | c.541A>T (p.Ser181Cys) c.624A>T c.244A>T (p.Ser82Cys) c.331A>T (p.Ser111Cys) | |
4 | g.52028810T>C | CA356876847 | SGCB | c.541A>G (p.Ser181Gly) c.624A>G c.244A>G (p.Ser82Gly) c.331A>G (p.Ser111Gly) | |
4 | g.52028810T>G | CA356876846 | SGCB | c.541A>C (p.Ser181Arg) c.624A>C c.244A>C (p.Ser82Arg) c.331A>C (p.Ser111Arg) | |
4 | g.52028811G>A | CA439273998 | SGCB | c.540C>T (p.Phe180=) c.623C>T c.243C>T (p.Phe81=) c.330C>T (p.Phe110=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.52028811G>C | CA356876850 | SGCB | c.540C>G (p.Phe180Leu) c.623C>G c.243C>G (p.Phe81Leu) c.330C>G (p.Phe110Leu) | |
4 | g.52028811G= | CA1457429553 | SGCB | c.540C= (p.Phe180=) c.623C= c.243C= (p.Phe81=) c.330C= (p.Phe110=) | |
4 | g.52028811G>T | CA356876851 | SGCB | c.540C>A (p.Phe180Leu) c.623C>A c.243C>A (p.Phe81Leu) c.330C>A (p.Phe110Leu) |