UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.71756759G>A | CA439795773 | GC | c.987C>T (p.Pro329=) n.871C>T c.1044C>T (p.Pro348=) | |
| 4 | g.71756759G>C | CA439795774 | GC | c.987C>G (p.Pro329=) n.871C>G c.1044C>G (p.Pro348=) | |
| 4 | g.71756759G>T | CA439795775 | GC | c.987C>A (p.Pro329=) n.871C>A c.1044C>A (p.Pro348=) | |
| 4 | g.71756760G>A | CA357204735 | GC | c.986C>T (p.Pro329Leu) n.870C>T c.1043C>T (p.Pro348Leu) | |
| 4 | g.71756760G>C | CA357204736 | GC | c.986C>G (p.Pro329Arg) n.870C>G c.1043C>G (p.Pro348Arg) | |
| 4 | g.71756760G>T | CA357204737 | GC | c.986C>A (p.Pro329His) n.870C>A c.1043C>A (p.Pro348His) | |
| 4 | g.71756761G>A | CA357204738 | GC | c.985C>T (p.Pro329Ser) n.869C>T c.1042C>T (p.Pro348Ser) | |
| 4 | g.71756761G>C | CA357204739 | GC | c.985C>G (p.Pro329Ala) n.869C>G c.1042C>G (p.Pro348Ala) | |
| 4 | g.71756761G>T | CA357204740 | GC | c.985C>A (p.Pro329Thr) n.869C>A c.1042C>A (p.Pro348Thr) | |
| 4 | g.71756762C>A | CA357204741 | GC | c.984G>T (p.Leu328Phe) n.868G>T c.1041G>T (p.Leu347Phe) | |
| 4 | g.71756762C>G | CA357204742 | GC | c.984G>C (p.Leu328Phe) n.868G>C c.1041G>C (p.Leu347Phe) | |
| 4 | g.71756762C>T | CA439795776 | GC | c.984G>A (p.Leu328=) n.868G>A c.1041G>A (p.Leu347=) | |
| 4 | g.71756763A>C | CA357204743 | GC | c.983T>G (p.Leu328Trp) n.867T>G c.1040T>G (p.Leu347Trp) | gnomAD v4 |
| 4 | g.71756763A>G | CA357204744 | GC | c.983T>C (p.Leu328Ser) n.867T>C c.1040T>C (p.Leu347Ser) | |
| 4 | g.71756763A>T | CA357204745 | GC | c.983T>A (p.Leu328Ter) n.867T>A c.1040T>A (p.Leu347Ter) | |
| 4 | g.71756764A= | CA1467373190 | GC | c.982T= (p.Leu328=) n.866T= c.1039T= (p.Leu347=) | |
| 4 | g.71756764A>C | CA2955529 | GC | c.982T>G (p.Leu328Val) n.866T>G c.1039T>G (p.Leu347Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756764A>G | CA2955528 | GC | c.982T>C (p.Leu328=) n.866T>C c.1039T>C (p.Leu347=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756764A>T | CA357204746 | GC | c.982T>A (p.Leu328Met) n.866T>A c.1039T>A (p.Leu347Met) | |
| 4 | g.71756765C>A | CA357204747 | GC | c.981G>T (p.Glu327Asp) n.865G>T c.1038G>T (p.Glu346Asp) | dbSNP |
| 4 | g.71756765C= | CA1467373191 | GC | c.981G= (p.Glu327=) n.865G= c.1038G= (p.Glu346=) | |
| 4 | g.71756765C>G | CA357204748 | GC | c.981G>C (p.Glu327Asp) n.865G>C c.1038G>C (p.Glu346Asp) | |
| 4 | g.71756765C>T | CA2955530 | GC | c.981G>A (p.Glu327=) n.865G>A c.1038G>A (p.Glu346=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756766T>A | CA357204749 | GC | c.980A>T (p.Glu327Val) n.864A>T c.1037A>T (p.Glu346Val) | |
| 4 | g.71756766T>C | CA357204751 | GC | c.980A>G (p.Glu327Gly) n.864A>G c.1037A>G (p.Glu346Gly) | |
| 4 | g.71756766T>G | CA357204750 | GC | c.980A>C (p.Glu327Ala) n.864A>C c.1037A>C (p.Glu346Ala) | |
| 4 | g.71756767C>A | CA357204752 | GC | c.979G>T (p.Glu327Ter) n.863G>T c.1036G>T (p.Glu346Ter) | |
| 4 | g.71756767C= | CA1467373192 | GC | c.979G= (p.Glu327=) n.863G= c.1036G= (p.Glu346=) | |
| 4 | g.71756767C>G | CA357204753 | GC | c.979G>C (p.Glu327Gln) n.863G>C c.1036G>C (p.Glu346Gln) | gnomAD v4 |
| 4 | g.71756767C>T | CA99065758 | GC | c.979G>A (p.Glu327Lys) n.863G>A c.1036G>A (p.Glu346Lys) | dbSNP gnomAD v4 |
| 4 | g.71756768T>A | CA439795777 | GC | c.978A>T (p.Val326=) n.862A>T c.1035A>T (p.Val345=) | |
| 4 | g.71756768T>C | CA439795778 | GC | c.978A>G (p.Val326=) n.862A>G c.1035A>G (p.Val345=) | |
| 4 | g.71756768T>G | CA439795779 | GC | c.978A>C (p.Val326=) n.862A>C c.1035A>C (p.Val345=) | |
| 4 | g.71756769A>C | CA357204754 | GC | c.977T>G (p.Val326Gly) n.861T>G c.1034T>G (p.Val345Gly) | |
| 4 | g.71756769A>G | CA357204755 | GC | c.977T>C (p.Val326Ala) n.861T>C c.1034T>C (p.Val345Ala) | gnomAD v4 |
| 4 | g.71756769A>T | CA357204756 | GC | c.977T>A (p.Val326Glu) n.861T>A c.1034T>A (p.Val345Glu) | |
| 4 | g.71756770C>A | CA357204757 | GC | c.976G>T (p.Val326Leu) n.860G>T c.1033G>T (p.Val345Leu) | |
| 4 | g.71756770C>G | CA357204758 | GC | c.976G>C (p.Val326Leu) n.860G>C c.1033G>C (p.Val345Leu) | |
| 4 | g.71756770C>T | CA357204759 | GC | c.976G>A (p.Val326Ile) n.860G>A c.1033G>A (p.Val345Ile) | |
| 4 | g.71756771A= | CA1467373193 | GC | c.975T= (p.Asp325=) n.859T= c.1032T= (p.Asp344=) | |
| 4 | g.71756771A>C | CA357204760 | GC | c.975T>G (p.Asp325Glu) n.859T>G c.1032T>G (p.Asp344Glu) | COSMIC COSMIC |
| 4 | g.71756771A>G | CA439795780 | GC | c.975T>C (p.Asp325=) n.859T>C c.1032T>C (p.Asp344=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756771A>T | CA357204761 | GC | c.975T>A (p.Asp325Glu) n.859T>A c.1032T>A (p.Asp344Glu) | |
| 4 | g.71756772T>A | CA2955531 | GC | c.974A>T (p.Asp325Val) n.858A>T c.1031A>T (p.Asp344Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756772T>C | CA357204763 | GC | c.974A>G (p.Asp325Gly) n.858A>G c.1031A>G (p.Asp344Gly) | |
| 4 | g.71756772T>G | CA357204762 | GC | c.974A>C (p.Asp325Ala) n.858A>C c.1031A>C (p.Asp344Ala) | |
| 4 | g.71756772T= | CA1467373194 | GC | c.974A= (p.Asp325=) n.858A= c.1031A= (p.Asp344=) | |
| 4 | g.71756773C>A | CA357204764 | GC | c.973G>T (p.Asp325Tyr) n.857G>T c.1030G>T (p.Asp344Tyr) | |
| 4 | g.71756773C>G | CA357204765 | GC | c.973G>C (p.Asp325His) n.857G>C c.1030G>C (p.Asp344His) | |
| 4 | g.71756773C>T | CA357204766 | GC | c.973G>A (p.Asp325Asn) n.857G>A c.1030G>A (p.Asp344Asn) | |
| 4 | g.71756774T>A | CA439795781 | GC | c.972A>T (p.Pro324=) n.856A>T c.1029A>T (p.Pro343=) | |
| 4 | g.71756774T>C | CA439795783 | GC | c.972A>G (p.Pro324=) n.856A>G c.1029A>G (p.Pro343=) | |
| 4 | g.71756774T>G | CA439795782 | GC | c.972A>C (p.Pro324=) n.856A>C c.1029A>C (p.Pro343=) | |
| 4 | g.71756775G>A | CA357204767 | GC | c.971C>T (p.Pro324Leu) n.855C>T c.1028C>T (p.Pro343Leu) | gnomAD v4 |
| 4 | g.71756775G>C | CA357204768 | GC | c.971C>G (p.Pro324Arg) n.855C>G c.1028C>G (p.Pro343Arg) | |
| 4 | g.71756775G>T | CA357204769 | GC | c.971C>A (p.Pro324Gln) n.855C>A c.1028C>A (p.Pro343Gln) | |
| 4 | g.71756776G>A | CA357204770 | GC | c.970C>T (p.Pro324Ser) n.854C>T c.1027C>T (p.Pro343Ser) | |
| 4 | g.71756776G>C | CA357204771 | GC | c.970C>G (p.Pro324Ala) n.854C>G c.1027C>G (p.Pro343Ala) | |
| 4 | g.71756776G>T | CA357204772 | GC | c.970C>A (p.Pro324Thr) n.854C>A c.1027C>A (p.Pro343Thr) | |
| 4 | g.71756777A>C | CA439795784 | GC | c.969T>G (p.Leu323=) n.853T>G c.1026T>G (p.Leu342=) | |
| 4 | g.71756777A>G | CA439795785 | GC | c.969T>C (p.Leu323=) n.853T>C c.1026T>C (p.Leu342=) | |
| 4 | g.71756777A>T | CA439795786 | GC | c.969T>A (p.Leu323=) n.853T>A c.1026T>A (p.Leu342=) | |
| 4 | g.71756778A>C | CA357204774 | GC | c.968T>G (p.Leu323Arg) n.852T>G c.1025T>G (p.Leu342Arg) | |
| 4 | g.71756778A>G | CA357204775 | GC | c.968T>C (p.Leu323Pro) n.852T>C c.1025T>C (p.Leu342Pro) | |
| 4 | g.71756778A>T | CA357204773 | GC | c.968T>A (p.Leu323His) n.852T>A c.1025T>A (p.Leu342His) | |
| 4 | g.71756779G>A | CA357204776 | GC | c.967C>T (p.Leu323Phe) n.851C>T c.1024C>T (p.Leu342Phe) | gnomAD v4 |
| 4 | g.71756779G>C | CA357204777 | GC | c.967C>G (p.Leu323Val) n.851C>G c.1024C>G (p.Leu342Val) | |
| 4 | g.71756779G>T | CA357204778 | GC | c.967C>A (p.Leu323Ile) n.851C>A c.1024C>A (p.Leu342Ile) | COSMIC COSMIC |
| 4 | g.71756780C>A | CA357204779 | GC | c.966G>T (p.Glu322Asp) n.850G>T c.1023G>T (p.Glu341Asp) | |
| 4 | g.71756780C>G | CA357204780 | GC | c.966G>C (p.Glu322Asp) n.850G>C c.1023G>C (p.Glu341Asp) | |
| 4 | g.71756780C>T | CA439795787 | GC | c.966G>A (p.Glu322=) n.850G>A c.1023G>A (p.Glu341=) | |
| 4 | g.71756781T>A | CA357204781 | GC | c.965A>T (p.Glu322Val) n.849A>T c.1022A>T (p.Glu341Val) | |
| 4 | g.71756781T>C | CA357204782 | GC | c.965A>G (p.Glu322Gly) n.849A>G c.1022A>G (p.Glu341Gly) | |
| 4 | g.71756781T>G | CA357204783 | GC | c.965A>C (p.Glu322Ala) n.849A>C c.1022A>C (p.Glu341Ala) | |
| 4 | g.71756782C>A | CA357204784 | GC | c.964G>T (p.Glu322Ter) n.848G>T c.1021G>T (p.Glu341Ter) | |
| 4 | g.71756782C= | CA1467373195 | GC | c.964G= (p.Glu322=) n.848G= c.1021G= (p.Glu341=) | |
| 4 | g.71756782C>G | CA357204785 | GC | c.964G>C (p.Glu322Gln) n.848G>C c.1021G>C (p.Glu341Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71756782C>T | CA2955532 | GC | c.964G>A (p.Glu322Lys) n.848G>A c.1021G>A (p.Glu341Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756783G>A | CA2955533 | GC | c.963C>T (p.Pro321=) n.847C>T c.1020C>T (p.Pro340=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756783G>C | CA439795789 | GC | c.963C>G (p.Pro321=) n.847C>G c.1020C>G (p.Pro340=) | |
| 4 | g.71756783G= | CA1467373196 | GC | c.963C= (p.Pro321=) n.847C= c.1020C= (p.Pro340=) | |
| 4 | g.71756783G>T | CA439795788 | GC | c.963C>A (p.Pro321=) n.847C>A c.1020C>A (p.Pro340=) | |
| 4 | g.71756783_71756786del | CA2561821230 | GC | c.960_963del (p.Pro321SerfsTer5) n.844_847del c.1017_1020del (p.Pro340SerfsTer5) | |
| 4 | g.71756784_71756786del | CA2670941961 | GC | c.961_963del (p.Pro321del) n.845_847del c.1018_1020del (p.Pro340del) | gnomAD v4 |
| 4 | g.71756784G>A | CA357204788 | GC | c.962C>T (p.Pro321Leu) n.846C>T c.1019C>T (p.Pro340Leu) | |
| 4 | g.71756784G>C | CA357204786 | GC | c.962C>G (p.Pro321Arg) n.846C>G c.1019C>G (p.Pro340Arg) | |
| 4 | g.71756784G>T | CA357204787 | GC | c.962C>A (p.Pro321His) n.846C>A c.1019C>A (p.Pro340His) | |
| 4 | g.71756785G>A | CA357204789 | GC | c.961C>T (p.Pro321Ser) n.845C>T c.1018C>T (p.Pro340Ser) | |
| 4 | g.71756785G>C | CA357204790 | GC | c.961C>G (p.Pro321Ala) n.845C>G c.1018C>G (p.Pro340Ala) | |
| 4 | g.71756785G= | CA1467373197 | GC | c.961C= (p.Pro321=) n.845C= c.1018C= (p.Pro340=) | |
| 4 | g.71756785G>T | CA357204791 | GC | c.961C>A (p.Pro321Thr) n.845C>A c.1018C>A (p.Pro340Thr) | dbSNP gnomAD v4 |
| 4 | g.71756786G>A | CA2955534 | GC | c.960C>T (p.Leu320=) n.844C>T c.1017C>T (p.Leu339=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756786G>C | CA439795790 | GC | c.960C>G (p.Leu320=) n.844C>G c.1017C>G (p.Leu339=) | |
| 4 | g.71756786G= | CA1467373198 | GC | c.960C= (p.Leu320=) n.844C= c.1017C= (p.Leu339=) | |
| 4 | g.71756786G>T | CA439795791 | GC | c.960C>A (p.Leu320=) n.844C>A c.1017C>A (p.Leu339=) | |
| 4 | g.71756787A>C | CA357204792 | GC | c.959T>G (p.Leu320Arg) n.843T>G c.1016T>G (p.Leu339Arg) | |
| 4 | g.71756787A>G | CA357204793 | GC | c.959T>C (p.Leu320Pro) n.843T>C c.1016T>C (p.Leu339Pro) | |
| 4 | g.71756787A>T | CA357204794 | GC | c.959T>A (p.Leu320His) n.843T>A c.1016T>A (p.Leu339His) | |
| 4 | g.71756788G>A | CA357204795 | GC | c.958C>T (p.Leu320Phe) n.842C>T c.1015C>T (p.Leu339Phe) | dbSNP gnomAD v4 |
| 4 | g.71756788G>C | CA2955535 | GC | c.958C>G (p.Leu320Val) n.842C>G c.1015C>G (p.Leu339Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756788G= | CA1467373199 | GC | c.958C= (p.Leu320=) n.842C= c.1015C= (p.Leu339=) | |
| 4 | g.71756788G>T | CA357204796 | GC | c.958C>A (p.Leu320Ile) n.842C>A c.1015C>A (p.Leu339Ile) | gnomAD v4 COSMIC COSMIC |
| 4 | g.71756788_71756789insGTC | CA2512625029 | GC | c.957_958insGAC (p.Gln319_Leu320insAsp) n.841_842insGAC c.1014_1015insGAC (p.Gln338_Leu339insAsp) | |
| 4 | g.71756789T>A | CA357204797 | GC | c.957A>T (p.Gln319His) n.841A>T c.1014A>T (p.Gln338His) | |
| 4 | g.71756789T>C | CA439795792 | GC | c.957A>G (p.Gln319=) n.841A>G c.1014A>G (p.Gln338=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71756789T>G | CA357204798 | GC | c.957A>C (p.Gln319His) n.841A>C c.1014A>C (p.Gln338His) | gnomAD v4 |
| 4 | g.71756789T= | CA1467373200 | GC | c.957A= (p.Gln319=) n.841A= c.1014A= (p.Gln338=) | |
| 4 | g.71756790T>A | CA357204800 | GC | c.956A>T (p.Gln319Leu) n.840A>T c.1013A>T (p.Gln338Leu) | |
| 4 | g.71756790T>C | CA357204801 | GC | c.956A>G (p.Gln319Arg) n.840A>G c.1013A>G (p.Gln338Arg) | |
| 4 | g.71756790T>G | CA357204799 | GC | c.956A>C (p.Gln319Pro) n.840A>C c.1013A>C (p.Gln338Pro) | |
| 4 | g.71756791G>A | CA357204803 | GC | c.955C>T (p.Gln319Ter) n.839C>T c.1012C>T (p.Gln338Ter) | |
| 4 | g.71756791G>C | CA2955536 | GC | c.955C>G (p.Gln319Glu) n.839C>G c.1012C>G (p.Gln338Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756791G= | CA1467373201 | GC | c.955C= (p.Gln319=) n.839C= c.1012C= (p.Gln338=) | |
| 4 | g.71756791G>T | CA357204802 | GC | c.955C>A (p.Gln319Lys) n.839C>A c.1012C>A (p.Gln338Lys) | |
| 4 | g.71756793dup | CA2528762129 | GC | c.955dup (p.Gln319ProfsTer18) n.839dup c.1012dup (p.Gln338ProfsTer18) | |
| 4 | g.71756792G>A | CA2955537 | GC | c.954C>T (p.Ala318=) n.838C>T c.1011C>T (p.Ala337=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756792G>C | CA439795793 | GC | c.954C>G (p.Ala318=) n.838C>G c.1011C>G (p.Ala337=) | |
| 4 | g.71756792G= | CA1467373202 | GC | c.954C= (p.Ala318=) n.838C= c.1011C= (p.Ala337=) | |
| 4 | g.71756792G>T | CA439795794 | GC | c.954C>A (p.Ala318=) n.838C>A c.1011C>A (p.Ala337=) | |
| 4 | g.71756793G>A | CA357204804 | GC | c.953C>T (p.Ala318Val) n.837C>T c.1010C>T (p.Ala337Val) | gnomAD v4 COSMIC COSMIC |
| 4 | g.71756793G>C | CA357204805 | GC | c.953C>G (p.Ala318Gly) n.837C>G c.1010C>G (p.Ala337Gly) | |
| 4 | g.71756793G= | CA1467373203 | GC | c.953C= (p.Ala318=) n.837C= c.1010C= (p.Ala337=) | |
| 4 | g.71756793G>T | CA357204806 | GC | c.953C>A (p.Ala318Asp) n.837C>A c.1010C>A (p.Ala337Asp) | dbSNP gnomAD v4 |
| 4 | g.71756794C>A | CA357204807 | GC | c.952G>T (p.Ala318Ser) n.836G>T c.1009G>T (p.Ala337Ser) | |
| 4 | g.71756794C>G | CA357204808 | GC | c.952G>C (p.Ala318Pro) n.836G>C c.1009G>C (p.Ala337Pro) | |
| 4 | g.71756794C>T | CA357204809 | GC | c.952G>A (p.Ala318Thr) n.836G>A c.1009G>A (p.Ala337Thr) | |
| 4 | g.71756795A>C | CA439795795 | GC | c.951T>G (p.Ala317=) n.835T>G c.1008T>G (p.Ala336=) | |
| 4 | g.71756795A>G | CA439795796 | GC | c.951T>C (p.Ala317=) n.835T>C c.1008T>C (p.Ala336=) | |
| 4 | g.71756795A>T | CA439795797 | GC | c.951T>A (p.Ala317=) n.835T>A c.1008T>A (p.Ala336=) | |
| 4 | g.71756796G>A | CA357204810 | GC | c.950C>T (p.Ala317Val) n.834C>T c.1007C>T (p.Ala336Val) | gnomAD v4 |
| 4 | g.71756796G>C | CA357204811 | GC | c.950C>G (p.Ala317Gly) n.834C>G c.1007C>G (p.Ala336Gly) | |
| 4 | g.71756796G>T | CA357204812 | GC | c.950C>A (p.Ala317Asp) n.834C>A c.1007C>A (p.Ala336Asp) | |
| 4 | g.71756797C>A | CA357204814 | GC | c.949G>T (p.Ala317Ser) n.833G>T c.1006G>T (p.Ala336Ser) | |
| 4 | g.71756797C= | CA1467373204 | GC | c.949G= (p.Ala317=) n.833G= c.1006G= (p.Ala336=) | |
| 4 | g.71756797C>G | CA357204813 | GC | c.949G>C (p.Ala317Pro) n.833G>C c.1006G>C (p.Ala336Pro) | |
| 4 | g.71756797C>T | CA99065801 | GC | c.949G>A (p.Ala317Thr) n.833G>A c.1006G>A (p.Ala336Thr) | dbSNP |
| 4 | g.71756798T>A | CA439795798 | GC | c.948A>T (p.Pro316=) n.832A>T c.1005A>T (p.Pro335=) | |
| 4 | g.71756798T>C | CA439795799 | GC | c.948A>G (p.Pro316=) n.832A>G c.1005A>G (p.Pro335=) | |
| 4 | g.71756798T>G | CA439795800 | GC | c.948A>C (p.Pro316=) n.832A>C c.1005A>C (p.Pro335=) | |
| 4 | g.71756799G>A | CA357204815 | GC | c.947C>T (p.Pro316Leu) n.831C>T c.1004C>T (p.Pro335Leu) | |
| 4 | g.71756799G>C | CA357204816 | GC | c.947C>G (p.Pro316Arg) n.831C>G c.1004C>G (p.Pro335Arg) | |
| 4 | g.71756799G>T | CA357204817 | GC | c.947C>A (p.Pro316Gln) n.831C>A c.1004C>A (p.Pro335Gln) | |
| 4 | g.71756800G>A | CA357204818 | GC | c.946C>T (p.Pro316Ser) n.830C>T c.1003C>T (p.Pro335Ser) | |
| 4 | g.71756800G>C | CA357204819 | GC | c.946C>G (p.Pro316Ala) n.830C>G c.1003C>G (p.Pro335Ala) | |
| 4 | g.71756800G>T | CA357204820 | GC | c.946C>A (p.Pro316Thr) n.830C>A c.1003C>A (p.Pro335Thr) | |
| 4 | g.71756801C>A | CA357204821 | GC | c.945G>T (p.Met315Ile) n.829G>T c.1002G>T (p.Met334Ile) | |
| 4 | g.71756801C= | CA1467373205 | GC | c.945G= (p.Met315=) n.829G= c.1002G= (p.Met334=) | |
| 4 | g.71756801C>G | CA357204822 | GC | c.945G>C (p.Met315Ile) n.829G>C c.1002G>C (p.Met334Ile) | |
| 4 | g.71756801C>T | CA2955538 | GC | c.945G>A (p.Met315Ile) n.829G>A c.1002G>A (p.Met334Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756802A= | CA1467373206 | GC | c.944T= (p.Met315=) n.828T= c.1001T= (p.Met334=) | |
| 4 | g.71756802A>C | CA357204823 | GC | c.944T>G (p.Met315Arg) n.828T>G c.1001T>G (p.Met334Arg) | |
| 4 | g.71756802A>G | CA2955539 | GC | c.944T>C (p.Met315Thr) n.828T>C c.1001T>C (p.Met334Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756802A>T | CA357204824 | GC | c.944T>A (p.Met315Lys) n.828T>A c.1001T>A (p.Met334Lys) | |
| 4 | g.71756803T>A | CA357204826 | GC | c.943A>T (p.Met315Leu) n.827A>T c.1000A>T (p.Met334Leu) | |
| 4 | g.71756803T>C | CA357204827 | GC | c.943A>G (p.Met315Val) n.827A>G c.1000A>G (p.Met334Val) | |
| 4 | g.71756803T>G | CA357204825 | GC | c.943A>C (p.Met315Leu) n.827A>C c.1000A>C (p.Met334Leu) | |
| 4 | g.71756804G>A | CA439795801 | GC | c.942C>T (p.Phe314=) n.826C>T c.999C>T (p.Phe333=) | COSMIC COSMIC |
| 4 | g.71756804G>C | CA357204828 | GC | c.942C>G (p.Phe314Leu) n.826C>G c.999C>G (p.Phe333Leu) | gnomAD v4 |
| 4 | g.71756804G>T | CA357204829 | GC | c.942C>A (p.Phe314Leu) n.826C>A c.999C>A (p.Phe333Leu) | |
| 4 | g.71756805A>C | CA357204830 | GC | c.941T>G (p.Phe314Cys) n.825T>G c.998T>G (p.Phe333Cys) | |
| 4 | g.71756805A>G | CA357204831 | GC | c.941T>C (p.Phe314Ser) n.825T>C c.998T>C (p.Phe333Ser) | |
| 4 | g.71756805A>T | CA357204832 | GC | c.941T>A (p.Phe314Tyr) n.825T>A c.998T>A (p.Phe333Tyr) | |
| 4 | g.71756806A= | CA1467373207 | GC | c.940T= (p.Phe314=) n.824T= c.997T= (p.Phe333=) | |
| 4 | g.71756806A>C | CA357204833 | GC | c.940T>G (p.Phe314Val) n.824T>G c.997T>G (p.Phe333Val) | dbSNP COSMIC COSMIC |
| 4 | g.71756806A>G | CA357204834 | GC | c.940T>C (p.Phe314Leu) n.824T>C c.997T>C (p.Phe333Leu) | |
| 4 | g.71756806A>T | CA357204835 | GC | c.940T>A (p.Phe314Ile) n.824T>A c.997T>A (p.Phe333Ile) | gnomAD v4 |
| 4 | g.71756807G>A | CA439795802 | GC | c.939C>T (p.Tyr313=) n.823C>T c.996C>T (p.Tyr332=) | dbSNP gnomAD v4 |
| 4 | g.71756807G>C | CA357204836 | GC | c.939C>G (p.Tyr313Ter) n.823C>G c.996C>G (p.Tyr332Ter) | |
| 4 | g.71756807G= | CA1467373208 | GC | c.939C= (p.Tyr313=) n.823C= c.996C= (p.Tyr332=) | |
| 4 | g.71756807G>T | CA357204837 | GC | c.939C>A (p.Tyr313Ter) n.823C>A c.996C>A (p.Tyr332Ter) | |
| 4 | g.71756808T>A | CA357204838 | GC | c.938A>T (p.Tyr313Phe) n.822A>T c.995A>T (p.Tyr332Phe) | |
| 4 | g.71756808T>C | CA357204839 | GC | c.938A>G (p.Tyr313Cys) n.822A>G c.995A>G (p.Tyr332Cys) | |
| 4 | g.71756808T>G | CA357204840 | GC | c.938A>C (p.Tyr313Ser) n.822A>C c.995A>C (p.Tyr332Ser) | |
| 4 | g.71756808dup | CA2670941962 | GC | c.938dup (p.Tyr313Ter) n.822dup c.995dup (p.Tyr332Ter) | gnomAD v4 |
| 4 | g.71756809A= | CA1467373209 | GC | c.937T= (p.Tyr313=) n.821T= c.994T= (p.Tyr332=) | |
| 4 | g.71756809A>C | CA357204842 | GC | c.937T>G (p.Tyr313Asp) n.821T>G c.994T>G (p.Tyr332Asp) | gnomAD v4 |
| 4 | g.71756809A>G | CA2955540 | GC | c.937T>C (p.Tyr313His) n.821T>C c.994T>C (p.Tyr332His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756809A>T | CA357204841 | GC | c.937T>A (p.Tyr313Asn) n.821T>A c.994T>A (p.Tyr332Asn) | COSMIC |
| 4 | g.71756810A= | CA1467373210 | GC | c.936T= (p.Thr312=) n.820T= c.993T= (p.Thr331=) | |
| 4 | g.71756810A>C | CA439795803 | GC | c.936T>G (p.Thr312=) n.820T>G c.993T>G (p.Thr331=) | |
| 4 | g.71756810A>G | CA439795804 | GC | c.936T>C (p.Thr312=) n.820T>C c.993T>C (p.Thr331=) | dbSNP |
| 4 | g.71756810A>T | CA439795805 | GC | c.936T>A (p.Thr312=) n.820T>A c.993T>A (p.Thr331=) | |
| 4 | g.71756811G>A | CA357204843 | GC | c.935C>T (p.Thr312Ile) n.819C>T c.992C>T (p.Thr331Ile) | dbSNP gnomAD v4 |
| 4 | g.71756811G>C | CA357204844 | GC | c.935C>G (p.Thr312Ser) n.819C>G c.992C>G (p.Thr331Ser) | |
| 4 | g.71756811G= | CA1467373211 | GC | c.935C= (p.Thr312=) n.819C= c.992C= (p.Thr331=) | |
| 4 | g.71756811G>T | CA357204845 | GC | c.935C>A (p.Thr312Asn) n.819C>A c.992C>A (p.Thr331Asn) | gnomAD v4 |
| 4 | g.71756812T>A | CA357204846 | GC | c.934A>T (p.Thr312Ser) n.818A>T c.991A>T (p.Thr331Ser) | |
| 4 | g.71756812T>C | CA357204847 | GC | c.934A>G (p.Thr312Ala) n.818A>G c.991A>G (p.Thr331Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756812T>G | CA357204848 | GC | c.934A>C (p.Thr312Pro) n.818A>C c.991A>C (p.Thr331Pro) | |
| 4 | g.71756812T= | CA1467373212 | GC | c.934A= (p.Thr312=) n.818A= c.991A= (p.Thr331=) | |
| 4 | g.71756813G>A | CA439795806 | GC | c.933C>T (p.Cys311=) n.817C>T c.990C>T (p.Cys330=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756813G>C | CA357204849 | GC | c.933C>G (p.Cys311Trp) n.817C>G c.990C>G (p.Cys330Trp) | |
| 4 | g.71756813G= | CA1467373213 | GC | c.933C= (p.Cys311=) n.817C= c.990C= (p.Cys330=) | |
| 4 | g.71756813G>T | CA357204850 | GC | c.933C>A (p.Cys311Ter) n.817C>A c.990C>A (p.Cys330Ter) | |
| 4 | g.71756814C>A | CA2955541 | GC | c.932G>T (p.Cys311Phe) n.816G>T c.989G>T (p.Cys330Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71756814C= | CA1467373214 | GC | c.932G= (p.Cys311=) n.816G= c.989G= (p.Cys330=) | |
| 4 | g.71756814C>G | CA357204851 | GC | c.932G>C (p.Cys311Ser) n.816G>C c.989G>C (p.Cys330Ser) | |
| 4 | g.71756814C>T | CA357204852 | GC | c.932G>A (p.Cys311Tyr) n.816G>A c.989G>A (p.Cys330Tyr) | dbSNP gnomAD v4 |
| 4 | g.71756815A>C | CA357204853 | GC | c.931T>G (p.Cys311Gly) n.815T>G c.988T>G (p.Cys330Gly) | |
| 4 | g.71756815A>G | CA357204854 | GC | c.931T>C (p.Cys311Arg) n.815T>C c.988T>C (p.Cys330Arg) | |
| 4 | g.71756815A>T | CA357204855 | GC | c.931T>A (p.Cys311Ser) n.815T>A c.988T>A (p.Cys330Ser) | |
| 4 | g.71756816C>A | CA439795807 | GC | c.930G>T (p.Val310=) n.814G>T c.987G>T (p.Val329=) | gnomAD v4 |
| 4 | g.71756816C>G | CA439795809 | GC | c.930G>C (p.Val310=) n.814G>C c.987G>C (p.Val329=) | |
| 4 | g.71756816C>T | CA439795808 | GC | c.930G>A (p.Val310=) n.814G>A c.987G>A (p.Val329=) | gnomAD v4 |
| 4 | g.71756817A>C | CA357204857 | GC | c.929T>G (p.Val310Gly) n.813T>G c.986T>G (p.Val329Gly) | gnomAD v4 |
| 4 | g.71756817A>G | CA357204858 | GC | c.929T>C (p.Val310Ala) n.813T>C c.986T>C (p.Val329Ala) | |
| 4 | g.71756817A>T | CA357204856 | GC | c.929T>A (p.Val310Glu) n.813T>A c.986T>A (p.Val329Glu) | COSMIC COSMIC |
| 4 | g.71756818C>A | CA357204860 | GC | c.928G>T (p.Val310Leu) n.812G>T c.985G>T (p.Val329Leu) | |
| 4 | g.71756818C= | CA1467373215 | GC | c.928G= (p.Val310=) n.812G= c.985G= (p.Val329=) | |
| 4 | g.71756818C>G | CA357204859 | GC | c.928G>C (p.Val310Leu) n.812G>C c.985G>C (p.Val329Leu) | |
| 4 | g.71756818C>T | CA357204861 | GC | c.928G>A (p.Val310Met) n.812G>A c.985G>A (p.Val329Met) | dbSNP |
| 4 | g.71756819A>C | CA357204862 | GC | c.927T>G (p.Phe309Leu) n.811T>G c.984T>G (p.Phe328Leu) | |
| 4 | g.71756819A>G | CA439795810 | GC | c.927T>C (p.Phe309=) n.811T>C c.984T>C (p.Phe328=) | |
| 4 | g.71756819A>T | CA357204863 | GC | c.927T>A (p.Phe309Leu) n.811T>A c.984T>A (p.Phe328Leu) | |
| 4 | g.71756820A= | CA1467373216 | GC | c.926T= (p.Phe309=) n.810T= c.983T= (p.Phe328=) | |
| 4 | g.71756820A>C | CA99065834 | GC | c.926T>G (p.Phe309Cys) n.810T>G c.983T>G (p.Phe328Cys) | dbSNP |
| 4 | g.71756820A>G | CA357204864 | GC | c.926T>C (p.Phe309Ser) n.810T>C c.983T>C (p.Phe328Ser) | |
| 4 | g.71756820A>T | CA357204865 | GC | c.926T>A (p.Phe309Tyr) n.810T>A c.983T>A (p.Phe328Tyr) | |
| 4 | g.71756821A>C | CA357204866 | GC | c.925T>G (p.Phe309Val) n.809T>G c.982T>G (p.Phe328Val) | |
| 4 | g.71756821A>G | CA357204867 | GC | c.925T>C (p.Phe309Leu) n.809T>C c.982T>C (p.Phe328Leu) | |
| 4 | g.71756821A>T | CA357204868 | GC | c.925T>A (p.Phe309Ile) n.809T>A c.982T>A (p.Phe328Ile) | |
| 4 | g.71756822A= | CA1467373217 | GC | c.924T= (p.Val308=) n.808T= c.981T= (p.Val327=) | |
| 4 | g.71756822A>C | CA439795811 | GC | c.924T>G (p.Val308=) n.808T>G c.981T>G (p.Val327=) | |
| 4 | g.71756822A>G | CA439795813 | GC | c.924T>C (p.Val308=) n.808T>C c.981T>C (p.Val327=) | |
| 4 | g.71756822A>T | CA439795812 | GC | c.924T>A (p.Val308=) n.808T>A c.981T>A (p.Val327=) | dbSNP |
| 4 | g.71756823A= | CA1467373218 | GC | c.923T= (p.Val308=) n.807T= c.980T= (p.Val327=) | |
| 4 | g.71756823A>C | CA357204871 | GC | c.923T>G (p.Val308Gly) n.807T>G c.980T>G (p.Val327Gly) | dbSNP |
| 4 | g.71756823A>G | CA357204870 | GC | c.923T>C (p.Val308Ala) n.807T>C c.980T>C (p.Val327Ala) | |
| 4 | g.71756823A>T | CA357204869 | GC | c.923T>A (p.Val308Asp) n.807T>A c.980T>A (p.Val327Asp) | |
| 4 | g.71756824C>A | CA357204872 | GC | c.922G>T (p.Val308Phe) n.806G>T c.979G>T (p.Val327Phe) | dbSNP gnomAD v4 |
| 4 | g.71756824C= | CA1467373219 | GC | c.922G= (p.Val308=) n.806G= c.979G= (p.Val327=) | |
| 4 | g.71756824C>G | CA357204873 | GC | c.922G>C (p.Val308Leu) n.806G>C c.979G>C (p.Val327Leu) | |
| 4 | g.71756824C>T | CA2955542 | GC | c.922G>A (p.Val308Ile) n.806G>A c.979G>A (p.Val327Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756825G>A | CA2955543 | GC | c.921C>T (p.Asp307=) n.805C>T c.978C>T (p.Asp326=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756825G>C | CA357204874 | GC | c.921C>G (p.Asp307Glu) n.805C>G c.978C>G (p.Asp326Glu) | |
| 4 | g.71756825G= | CA1467373220 | GC | c.921C= (p.Asp307=) n.805C= c.978C= (p.Asp326=) | |
| 4 | g.71756825G>T | CA357204875 | GC | c.921C>A (p.Asp307Glu) n.805C>A c.978C>A (p.Asp326Glu) | |
| 4 | g.71756826T>A | CA357204876 | GC | c.920A>T (p.Asp307Val) n.804A>T c.977A>T (p.Asp326Val) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.71756826T>C | CA357204878 | GC | c.920A>G (p.Asp307Gly) n.804A>G c.977A>G (p.Asp326Gly) | |
| 4 | g.71756826T>G | CA357204877 | GC | c.920A>C (p.Asp307Ala) n.804A>C c.977A>C (p.Asp326Ala) | |
| 4 | g.71756826T= | CA1467373221 | GC | c.920A= (p.Asp307=) n.804A= c.977A= (p.Asp326=) | |
| 4 | g.71756827C>A | CA357204879 | GC | c.919G>T (p.Asp307Tyr) n.803G>T c.976G>T (p.Asp326Tyr) | |
| 4 | g.71756827C= | CA1467373222 | GC | c.919G= (p.Asp307=) n.803G= c.976G= (p.Asp326=) | |
| 4 | g.71756827C>G | CA357204880 | GC | c.919G>C (p.Asp307His) n.803G>C c.976G>C (p.Asp326His) | |
| 4 | g.71756827C>T | CA357204881 | GC | c.919G>A (p.Asp307Asn) n.803G>A c.976G>A (p.Asp326Asn) | dbSNP gnomAD v4 |
| 4 | g.71756828C>A | CA357204882 | GC | c.918G>T (p.Met306Ile) n.802G>T c.975G>T (p.Met325Ile) | gnomAD v4 |
| 4 | g.71756828C>G | CA357204883 | GC | c.918G>C (p.Met306Ile) n.802G>C c.975G>C (p.Met325Ile) | gnomAD v4 |
| 4 | g.71756828C>T | CA357204884 | GC | c.918G>A (p.Met306Ile) n.802G>A c.975G>A (p.Met325Ile) | COSMIC COSMIC |
| 4 | g.71756829A= | CA1467373223 | GC | c.917T= (p.Met306=) n.801T= c.974T= (p.Met325=) | |
| 4 | g.71756829A>C | CA357204885 | GC | c.917T>G (p.Met306Arg) n.801T>G c.974T>G (p.Met325Arg) | |
| 4 | g.71756829A>G | CA357204886 | GC | c.917T>C (p.Met306Thr) n.801T>C c.974T>C (p.Met325Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71756829A>T | CA357204887 | GC | c.917T>A (p.Met306Lys) n.801T>A c.974T>A (p.Met325Lys) | |
| 4 | g.71756830T>A | CA357204888 | GC | c.916A>T (p.Met306Leu) n.800A>T c.973A>T (p.Met325Leu) | COSMIC COSMIC |
| 4 | g.71756830T>C | CA357204889 | GC | c.916A>G (p.Met306Val) n.800A>G c.973A>G (p.Met325Val) | gnomAD v4 |
| 4 | g.71756830T>G | CA357204890 | GC | c.916A>C (p.Met306Leu) n.800A>C c.973A>C (p.Met325Leu) | |
| 4 | g.71756831G>A | CA439795814 | GC | c.915C>T (p.Ala305=) n.799C>T c.972C>T (p.Ala324=) | |
| 4 | g.71756831G>C | CA439795815 | GC | c.915C>G (p.Ala305=) n.799C>G c.972C>G (p.Ala324=) | |
| 4 | g.71756831G>T | CA439795816 | GC | c.915C>A (p.Ala305=) n.799C>A c.972C>A (p.Ala324=) | |
| 4 | g.71756832G>A | CA2955544 | GC | c.914C>T (p.Ala305Val) n.798C>T c.971C>T (p.Ala324Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.71756832G>C | CA357204891 | GC | c.914C>G (p.Ala305Gly) n.798C>G c.971C>G (p.Ala324Gly) | dbSNP gnomAD v4 |
| 4 | g.71756832G= | CA1467373224 | GC | c.914C= (p.Ala305=) n.798C= c.971C= (p.Ala324=) | |
| 4 | g.71756832G>T | CA357204892 | GC | c.914C>A (p.Ala305Asp) n.798C>A c.971C>A (p.Ala324Asp) | |
| 4 | g.71756833C>A | CA357204893 | GC | c.913G>T (p.Ala305Ser) n.797G>T c.970G>T (p.Ala324Ser) | |
| 4 | g.71756833C= | CA1467373225 | GC | c.913G= (p.Ala305=) n.797G= c.970G= (p.Ala324=) | |
| 4 | g.71756833C>G | CA357204894 | GC | c.913G>C (p.Ala305Pro) n.797G>C c.970G>C (p.Ala324Pro) | dbSNP |
| 4 | g.71756833C>T | CA357204895 | GC | c.913G>A (p.Ala305Thr) n.797G>A c.970G>A (p.Ala324Thr) | |
| 4 | g.71756834T>A | CA439795817 | GC | c.912A>T (p.Thr304=) n.796A>T c.969A>T (p.Thr323=) | |
| 4 | g.71756834T>C | CA439795818 | GC | c.912A>G (p.Thr304=) n.796A>G c.969A>G (p.Thr323=) | |
| 4 | g.71756834T>G | CA439795819 | GC | c.912A>C (p.Thr304=) n.796A>C c.969A>C (p.Thr323=) | |
| 4 | g.71756834T= | CA1467373226 | GC | c.912A= (p.Thr304=) n.796A= c.969A= (p.Thr323=) | |
| 4 | g.71756835G>A | CA2955545 | GC | c.911C>T (p.Thr304Ile) n.795C>T c.968C>T (p.Thr323Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756835G>C | CA357204896 | GC | c.911C>G (p.Thr304Arg) n.795C>G c.968C>G (p.Thr323Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71756835G= | CA1467373227 | GC | c.911C= (p.Thr304=) n.795C= c.968C= (p.Thr323=) | |
| 4 | g.71756835G>T | CA357204897 | GC | c.911C>A (p.Thr304Lys) n.795C>A c.968C>A (p.Thr323Lys) | |
| 4 | g.71756835dup | CA99065854 | GC | c.911dup (p.Ala305SerfsTer?) n.795dup c.968dup (p.Ala324SerfsTer?) | dbSNP |
| 4 | g.71756836T>A | CA357204898 | GC | c.910A>T (p.Thr304Ser) n.794A>T c.967A>T (p.Thr323Ser) | dbSNP |
| 4 | g.71756836T>C | CA357204899 | GC | c.910A>G (p.Thr304Ala) n.794A>G c.967A>G (p.Thr323Ala) | |
| 4 | g.71756836T>G | CA357204900 | GC | c.910A>C (p.Thr304Pro) n.794A>C c.967A>C (p.Thr323Pro) | gnomAD v4 |
| 4 | g.71756836T= | CA1467373228 | GC | c.910A= (p.Thr304=) n.794A= c.967A= (p.Thr323=) | |
| 4 | g.71756837T>A | CA357204901 | GC | c.909A>T (p.Lys303Asn) n.793A>T c.966A>T (p.Lys322Asn) | |
| 4 | g.71756837T>C | CA439795821 | GC | c.909A>G (p.Lys303=) n.793A>G c.966A>G (p.Lys322=) | |
| 4 | g.71756837T>G | CA357204902 | GC | c.909A>C (p.Lys303Asn) n.793A>C c.966A>C (p.Lys322Asn) | |
| 4 | g.71756838T>A | CA357204905 | GC | c.908A>T (p.Lys303Ile) n.792A>T c.965A>T (p.Lys322Ile) | |
| 4 | g.71756838T>C | CA357204904 | GC | c.908A>G (p.Lys303Arg) n.792A>G c.965A>G (p.Lys322Arg) | |
| 4 | g.71756838T>G | CA357204903 | GC | c.908A>C (p.Lys303Thr) n.792A>C c.965A>C (p.Lys322Thr) | |
| 4 | g.71756839T>A | CA357204906 | GC | c.907A>T (p.Lys303Ter) n.791A>T c.964A>T (p.Lys322Ter) | |
| 4 | g.71756839T>C | CA357204907 | GC | c.907A>G (p.Lys303Glu) n.791A>G c.964A>G (p.Lys322Glu) | |
| 4 | g.71756839T>G | CA357204908 | GC | c.907A>C (p.Lys303Gln) n.791A>C c.964A>C (p.Lys322Gln) | |
| 4 | g.71756840T>A | CA357204909 | GC | c.906A>T (p.Glu302Asp) n.790A>T c.963A>T (p.Glu321Asp) | |
| 4 | g.71756840T>C | CA439795822 | GC | c.906A>G (p.Glu302=) n.790A>G c.963A>G (p.Glu321=) | dbSNP |
| 4 | g.71756840T>G | CA357204910 | GC | c.906A>C (p.Glu302Asp) n.790A>C c.963A>C (p.Glu321Asp) | |
| 4 | g.71756840T= | CA1467373229 | GC | c.906A= (p.Glu302=) n.790A= c.963A= (p.Glu321=) | |
| 4 | g.71756841T>A | CA357204911 | GC | c.905A>T (p.Glu302Val) n.789A>T c.962A>T (p.Glu321Val) | |
| 4 | g.71756841T>C | CA357204912 | GC | c.905A>G (p.Glu302Gly) n.789A>G c.962A>G (p.Glu321Gly) | |
| 4 | g.71756841T>G | CA357204913 | GC | c.905A>C (p.Glu302Ala) n.789A>C c.962A>C (p.Glu321Ala) | |
| 4 | g.71756842C>A | CA357204914 | GC | c.904G>T (p.Glu302Ter) n.788G>T c.961G>T (p.Glu321Ter) | |
| 4 | g.71756842C= | CA1467373230 | GC | c.904G= (p.Glu302=) n.788G= c.961G= (p.Glu321=) | |
| 4 | g.71756842C>G | CA357204915 | GC | c.904G>C (p.Glu302Gln) n.788G>C c.961G>C (p.Glu321Gln) | |
| 4 | g.71756842C>T | CA357204916 | GC | c.904G>A (p.Glu302Lys) n.788G>A c.961G>A (p.Glu321Lys) | dbSNP gnomAD v4 |
| 4 | g.71756843T>A | CA357204917 | GC | c.903A>T (p.Gln301His) n.787A>T c.960A>T (p.Gln320His) | |
| 4 | g.71756843T>C | CA439795823 | GC | c.903A>G (p.Gln301=) n.787A>G c.960A>G (p.Gln320=) | gnomAD v4 |
| 4 | g.71756843T>G | CA357204918 | GC | c.903A>C (p.Gln301His) n.787A>C c.960A>C (p.Gln320His) | |
| 4 | g.71756844T>A | CA357204919 | GC | c.902A>T (p.Gln301Leu) n.786A>T c.959A>T (p.Gln320Leu) | |
| 4 | g.71756844T>C | CA357204920 | GC | c.902A>G (p.Gln301Arg) n.786A>G c.959A>G (p.Gln320Arg) | |
| 4 | g.71756844T>G | CA2955546 | GC | c.902A>C (p.Gln301Pro) n.786A>C c.959A>C (p.Gln320Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756844T= | CA1467373231 | GC | c.902A= (p.Gln301=) n.786A= c.959A= (p.Gln320=) | |
| 4 | g.71756845G>A | CA2955547 | GC | c.901C>T (p.Gln301Ter) n.785C>T c.958C>T (p.Gln320Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756845G>C | CA357204921 | GC | c.901C>G (p.Gln301Glu) n.785C>G c.958C>G (p.Gln320Glu) | |
| 4 | g.71756845G= | CA1467373232 | GC | c.901C= (p.Gln301=) n.785C= c.958C= (p.Gln320=) | |
| 4 | g.71756845G>T | CA99065862 | GC | c.901C>A (p.Gln301Lys) n.785C>A c.958C>A (p.Gln320Lys) | dbSNP gnomAD v4 |
| 4 | g.71756846A>C | CA357204922 | GC | c.900T>G (p.Cys300Trp) n.784T>G c.957T>G (p.Cys319Trp) | |
| 4 | g.71756846A>G | CA439795824 | GC | c.900T>C (p.Cys300=) n.784T>C c.957T>C (p.Cys319=) | |
| 4 | g.71756846A>T | CA357204923 | GC | c.900T>A (p.Cys300Ter) n.784T>A c.957T>A (p.Cys319Ter) | |
| 4 | g.71756847C>A | CA357204924 | GC | c.899G>T (p.Cys300Phe) n.783G>T c.956G>T (p.Cys319Phe) | |
| 4 | g.71756847C= | CA1467373233 | GC | c.899G= (p.Cys300=) n.783G= c.956G= (p.Cys319=) | |
| 4 | g.71756847C>G | CA357204925 | GC | c.899G>C (p.Cys300Ser) n.783G>C c.956G>C (p.Cys319Ser) | |
| 4 | g.71756847C>T | CA357204926 | GC | c.899G>A (p.Cys300Tyr) n.783G>A c.956G>A (p.Cys319Tyr) | dbSNP gnomAD v4 |
| 4 | g.71756848A= | CA1467373234 | GC | c.898T= (p.Cys300=) n.782T= c.955T= (p.Cys319=) | |
| 4 | g.71756848A>C | CA357204927 | GC | c.898T>G (p.Cys300Gly) n.782T>G c.955T>G (p.Cys319Gly) | |
| 4 | g.71756848A>G | CA2955548 | GC | c.898T>C (p.Cys300Arg) n.782T>C c.955T>C (p.Cys319Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.71756848A>T | CA357204928 | GC | c.898T>A (p.Cys300Ser) n.782T>A c.955T>A (p.Cys319Ser) | |
| 4 | g.71756849A= | CA1467373235 | GC | c.897T= (p.Cys299=) n.781T= c.954T= (p.Cys318=) | |
| 4 | g.71756849A>C | CA357204929 | GC | c.897T>G (p.Cys299Trp) n.781T>G c.954T>G (p.Cys318Trp) | |
| 4 | g.71756849A>G | CA2955549 | GC | c.897T>C (p.Cys299=) n.781T>C c.954T>C (p.Cys318=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756849A>T | CA357204930 | GC | c.897T>A (p.Cys299Ter) n.781T>A c.954T>A (p.Cys318Ter) | |
| 4 | g.71756850C>A | CA357204933 | GC | c.896G>T (p.Cys299Phe) n.780G>T c.953G>T (p.Cys318Phe) | |
| 4 | g.71756850C>G | CA357204931 | GC | c.896G>C (p.Cys299Ser) n.780G>C c.953G>C (p.Cys318Ser) | |
| 4 | g.71756850C>T | CA357204932 | GC | c.896G>A (p.Cys299Tyr) n.780G>A c.953G>A (p.Cys318Tyr) | gnomAD v4 |
| 4 | g.71756851A= | CA1467373236 | GC | c.895T= (p.Cys299=) n.779T= c.952T= (p.Cys318=) | |
| 4 | g.71756851A>C | CA357204934 | GC | c.895T>G (p.Cys299Gly) n.779T>G c.952T>G (p.Cys318Gly) | |
| 4 | g.71756851A>G | CA357204935 | GC | c.895T>C (p.Cys299Arg) n.779T>C c.952T>C (p.Cys318Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.71756851A>T | CA357204936 | GC | c.895T>A (p.Cys299Ser) n.779T>A c.952T>A (p.Cys318Ser) | |
| 4 | g.71756852G>A | CA439795825 | GC | c.894C>T (p.Asp298=) n.778C>T c.951C>T (p.Asp317=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756852G>C | CA99065873 | GC | c.894C>G (p.Asp298Glu) n.778C>G c.951C>G (p.Asp317Glu) | dbSNP |
| 4 | g.71756852G= | CA1467373237 | GC | c.894C= (p.Asp298=) n.778C= c.951C= (p.Asp317=) | |
| 4 | g.71756852G>T | CA357204937 | GC | c.894C>A (p.Asp298Glu) n.778C>A c.951C>A (p.Asp317Glu) | |
| 4 | g.71756853T>A | CA357204938 | GC | c.893A>T (p.Asp298Val) n.777A>T c.950A>T (p.Asp317Val) | |
| 4 | g.71756853T>C | CA357204939 | GC | c.893A>G (p.Asp298Gly) n.777A>G c.950A>G (p.Asp317Gly) | dbSNP |
| 4 | g.71756853T>G | CA357204940 | GC | c.893A>C (p.Asp298Ala) n.777A>C c.950A>C (p.Asp317Ala) | |
| 4 | g.71756854C>A | CA357204941 | GC | c.892G>T (p.Asp298Tyr) n.776G>T c.949G>T (p.Asp317Tyr) | |
| 4 | g.71756854C>G | CA357204942 | GC | c.892G>C (p.Asp298His) n.776G>C c.949G>C (p.Asp317His) | gnomAD v4 |
| 4 | g.71756854C>T | CA357204943 | GC | c.892G>A (p.Asp298Asn) n.776G>A c.949G>A (p.Asp317Asn) | gnomAD v4 |
| 4 | g.71756855T>A | CA357204945 | GC | c.891A>T (p.Glu297Asp) n.775A>T c.948A>T (p.Glu316Asp) | |
| 4 | g.71756855T>C | CA439795826 | GC | c.891A>G (p.Glu297=) n.775A>G c.948A>G (p.Glu316=) | dbSNP |
| 4 | g.71756855T>G | CA357204944 | GC | c.891A>C (p.Glu297Asp) n.775A>C c.948A>C (p.Glu316Asp) | |
| 4 | g.71756855T= | CA1467373238 | GC | c.891A= (p.Glu297=) n.775A= c.948A= (p.Glu316=) | |
| 4 | g.71756855_71756856del | CA2524549929 | GC | c.890_891del (p.Glu297GlyfsTer?) n.774_775del c.947_948del (p.Glu316GlyfsTer?) | |
| 4 | g.71756856T>A | CA357204946 | GC | c.890A>T (p.Glu297Val) n.774A>T c.947A>T (p.Glu316Val) | |
| 4 | g.71756856T>C | CA357204947 | GC | c.890A>G (p.Glu297Gly) n.774A>G c.947A>G (p.Glu316Gly) | |
| 4 | g.71756856T>G | CA357204948 | GC | c.890A>C (p.Glu297Ala) n.774A>C c.947A>C (p.Glu316Ala) | |
| 4 | g.71756857C>A | CA357204949 | GC | c.889G>T (p.Glu297Ter) n.773G>T c.946G>T (p.Glu316Ter) | |
| 4 | g.71756857C>G | CA357204950 | GC | c.889G>C (p.Glu297Gln) n.773G>C c.946G>C (p.Glu316Gln) | dbSNP |
| 4 | g.71756857C>T | CA357204951 | GC | c.889G>A (p.Glu297Lys) n.773G>A c.946G>A (p.Glu316Lys) | |
| 4 | g.71756857_71756858insGT | CA2506207256 | GC | c.888_889insAC (p.Glu297ThrfsTer?) n.772_773insAC c.945_946insAC (p.Glu316ThrfsTer?) | |
| 4 | g.71756858A>C | CA357204952 | GC | c.888T>G (p.Phe296Leu) n.772T>G c.945T>G (p.Phe315Leu) | |
| 4 | g.71756858A>G | CA439795827 | GC | c.888T>C (p.Phe296=) n.772T>C c.945T>C (p.Phe315=) | |
| 4 | g.71756858A>T | CA357204953 | GC | c.888T>A (p.Phe296Leu) n.772T>A c.945T>A (p.Phe315Leu) | |
| 4 | g.71756859A= | CA1467373239 | GC | c.887T= (p.Phe296=) n.771T= c.944T= (p.Phe315=) | |
| 4 | g.71756859A>C | CA357204954 | GC | c.887T>G (p.Phe296Cys) n.771T>G c.944T>G (p.Phe315Cys) | gnomAD v4 |
| 4 | g.71756859A>G | CA357204955 | GC | c.887T>C (p.Phe296Ser) n.771T>C c.944T>C (p.Phe315Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.71756859A>T | CA357204956 | GC | c.887T>A (p.Phe296Tyr) n.771T>A c.944T>A (p.Phe315Tyr) |