Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.36936936G>A | CA10020670 | HLCS | c.950C>T (p.Ser317Phe) c.509C>T (p.Ser170Phe) n.992C>T n.966C>T c.338C>T (p.Ser113Phe) n.951C>T n.809C>T | dbSNP ExAC gnomAD v2 |
21 | g.36936936G>C | CA320395631 | HLCS | c.950C>G (p.Ser317Cys) c.509C>G (p.Ser170Cys) n.992C>G n.966C>G c.338C>G (p.Ser113Cys) n.951C>G n.809C>G | dbSNP gnomAD v3 gnomAD v4 |
21 | g.36936936G= | CA2388237003 | HLCS | c.950C= (p.Ser317=) c.509C= (p.Ser170=) n.992C= n.966C= c.338C= (p.Ser113=) n.951C= n.809C= | |
21 | g.36936936G>T | CA409912889 | HLCS | c.950C>A (p.Ser317Tyr) c.509C>A (p.Ser170Tyr) n.992C>A n.966C>A c.338C>A (p.Ser113Tyr) n.951C>A n.809C>A | |
21 | g.36936937A= | CA2388237004 | HLCS | c.949T= (p.Ser317=) c.508T= (p.Ser170=) n.991T= n.965T= c.337T= (p.Ser113=) n.950T= n.808T= | |
21 | g.36936937A>C | CA409912891 | HLCS | c.949T>G (p.Ser317Ala) c.508T>G (p.Ser170Ala) n.991T>G n.965T>G c.337T>G (p.Ser113Ala) n.950T>G n.808T>G | |
21 | g.36936937A>G | CA409912892 | HLCS | c.949T>C (p.Ser317Pro) c.508T>C (p.Ser170Pro) n.991T>C n.965T>C c.337T>C (p.Ser113Pro) n.950T>C n.808T>C | dbSNP gnomAD v4 |
21 | g.36936937A>T | CA409912890 | HLCS | c.949T>A (p.Ser317Thr) c.508T>A (p.Ser170Thr) n.991T>A n.965T>A c.337T>A (p.Ser113Thr) n.950T>A n.808T>A | |
21 | g.36936938G>A | CA512325932 | HLCS | c.948C>T (p.Gly316=) c.507C>T (p.Gly169=) n.990C>T n.964C>T c.336C>T (p.Gly112=) n.949C>T n.807C>T | |
21 | g.36936938G>C | CA512325930 | HLCS | c.948C>G (p.Gly316=) c.507C>G (p.Gly169=) n.990C>G n.964C>G c.336C>G (p.Gly112=) n.949C>G n.807C>G | |
21 | g.36936938G>T | CA512325931 | HLCS | c.948C>A (p.Gly316=) c.507C>A (p.Gly169=) n.990C>A n.964C>A c.336C>A (p.Gly112=) n.949C>A n.807C>A | |
21 | g.36936939C>A | CA409912893 | HLCS | c.947G>T (p.Gly316Val) c.506G>T (p.Gly169Val) n.989G>T n.963G>T c.335G>T (p.Gly112Val) n.948G>T n.806G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936939C= | CA2388237005 | HLCS | c.947G= (p.Gly316=) c.506G= (p.Gly169=) n.989G= n.963G= c.335G= (p.Gly112=) n.948G= n.806G= | |
21 | g.36936939C>G | CA409912894 | HLCS | c.947G>C (p.Gly316Ala) c.506G>C (p.Gly169Ala) n.989G>C n.963G>C c.335G>C (p.Gly112Ala) n.948G>C n.806G>C | |
21 | g.36936939C>T | CA409912895 | HLCS | c.947G>A (p.Gly316Asp) c.506G>A (p.Gly169Asp) n.989G>A n.963G>A c.335G>A (p.Gly112Asp) n.948G>A n.806G>A | |
21 | g.36936940C>A | CA409912896 | HLCS | c.946G>T (p.Gly316Cys) c.505G>T (p.Gly169Cys) n.988G>T n.962G>T c.334G>T (p.Gly112Cys) n.947G>T n.805G>T | ClinVar dbSNP gnomAD v4 |
21 | g.36936940C= | CA2388237006 | HLCS | c.946G= (p.Gly316=) c.505G= (p.Gly169=) n.988G= n.962G= c.334G= (p.Gly112=) n.947G= n.805G= | |
21 | g.36936940C>G | CA409912897 | HLCS | c.946G>C (p.Gly316Arg) c.505G>C (p.Gly169Arg) n.988G>C n.962G>C c.334G>C (p.Gly112Arg) n.947G>C n.805G>C | |
21 | g.36936940C>T | CA409912898 | HLCS | c.946G>A (p.Gly316Ser) c.505G>A (p.Gly169Ser) n.988G>A n.962G>A c.334G>A (p.Gly112Ser) n.947G>A n.805G>A | |
21 | g.36936941C>A | CA512325933 | HLCS | c.945G>T (p.Val315=) c.504G>T (p.Val168=) n.987G>T n.961G>T c.333G>T (p.Val111=) n.946G>T n.804G>T | ClinVar dbSNP |
21 | g.36936941C>G | CA512325934 | HLCS | c.945G>C (p.Val315=) c.504G>C (p.Val168=) n.987G>C n.961G>C c.333G>C (p.Val111=) n.946G>C n.804G>C | |
21 | g.36936941C>T | CA512325935 | HLCS | c.945G>A (p.Val315=) c.504G>A (p.Val168=) n.987G>A n.961G>A c.333G>A (p.Val111=) n.946G>A n.804G>A | |
21 | g.36936942A= | CA2388237007 | HLCS | c.944T= (p.Val315=) c.503T= (p.Val168=) n.986T= n.960T= c.332T= (p.Val111=) n.945T= n.803T= | |
21 | g.36936942A>C | CA409912899 | HLCS | c.944T>G (p.Val315Gly) c.503T>G (p.Val168Gly) n.986T>G n.960T>G c.332T>G (p.Val111Gly) n.945T>G n.803T>G | |
21 | g.36936942A>G | CA10020671 | HLCS | c.944T>C (p.Val315Ala) c.503T>C (p.Val168Ala) n.986T>C n.960T>C c.332T>C (p.Val111Ala) n.945T>C n.803T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.36936942A>T | CA409912900 | HLCS | c.944T>A (p.Val315Glu) c.503T>A (p.Val168Glu) n.986T>A n.960T>A c.332T>A (p.Val111Glu) n.945T>A n.803T>A | |
21 | g.36936943C>A | CA409912901 | HLCS | c.943G>T (p.Val315Leu) c.502G>T (p.Val168Leu) n.985G>T n.959G>T c.331G>T (p.Val111Leu) n.944G>T n.802G>T | |
21 | g.36936943C>G | CA409912902 | HLCS | c.943G>C (p.Val315Leu) c.502G>C (p.Val168Leu) n.985G>C n.959G>C c.331G>C (p.Val111Leu) n.944G>C n.802G>C | |
21 | g.36936943C>T | CA409912903 | HLCS | c.943G>A (p.Val315Met) c.502G>A (p.Val168Met) n.985G>A n.959G>A c.331G>A (p.Val111Met) n.944G>A n.802G>A | gnomAD v4 |
21 | g.36936944A= | CA2388237008 | HLCS | c.942T= (p.Tyr314=) c.501T= (p.Tyr167=) n.984T= n.958T= c.330T= (p.Tyr110=) n.943T= n.801T= | |
21 | g.36936944A>C | CA409912904 | HLCS | c.942T>G (p.Tyr314Ter) c.501T>G (p.Tyr167Ter) n.984T>G n.958T>G c.330T>G (p.Tyr110Ter) n.943T>G n.801T>G | |
21 | g.36936944A>G | CA512325937 | HLCS | c.942T>C (p.Tyr314=) c.501T>C (p.Tyr167=) n.984T>C n.958T>C c.330T>C (p.Tyr110=) n.943T>C n.801T>C | ClinVar dbSNP gnomAD v2 |
21 | g.36936944A>T | CA409912905 | HLCS | c.942T>A (p.Tyr314Ter) c.501T>A (p.Tyr167Ter) n.984T>A n.958T>A c.330T>A (p.Tyr110Ter) n.943T>A n.801T>A | |
21 | g.36936945T>A | CA409912907 | HLCS | c.941A>T (p.Tyr314Phe) c.500A>T (p.Tyr167Phe) n.983A>T n.957A>T c.329A>T (p.Tyr110Phe) n.942A>T n.800A>T | |
21 | g.36936945T>C | CA10020672 | HLCS | c.941A>G (p.Tyr314Cys) c.500A>G (p.Tyr167Cys) n.983A>G n.957A>G c.329A>G (p.Tyr110Cys) n.942A>G n.800A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.36936945T>G | CA409912906 | HLCS | c.941A>C (p.Tyr314Ser) c.500A>C (p.Tyr167Ser) n.983A>C n.957A>C c.329A>C (p.Tyr110Ser) n.942A>C n.800A>C | ClinVar dbSNP gnomAD v4 |
21 | g.36936945T= | CA2388237009 | HLCS | c.941A= (p.Tyr314=) c.500A= (p.Tyr167=) n.983A= n.957A= c.329A= (p.Tyr110=) n.942A= n.800A= | |
21 | g.36936946A>C | CA409912908 | HLCS | c.940T>G (p.Tyr314Asp) c.499T>G (p.Tyr167Asp) n.982T>G n.956T>G c.328T>G (p.Tyr110Asp) n.941T>G n.799T>G | |
21 | g.36936946A>G | CA409912910 | HLCS | c.940T>C (p.Tyr314His) c.499T>C (p.Tyr167His) n.982T>C n.956T>C c.328T>C (p.Tyr110His) n.941T>C n.799T>C | |
21 | g.36936946A>T | CA409912909 | HLCS | c.940T>A (p.Tyr314Asn) c.499T>A (p.Tyr167Asn) n.982T>A n.956T>A c.328T>A (p.Tyr110Asn) n.941T>A n.799T>A | |
21 | g.36936947G>A | CA512325941 | HLCS | c.939C>T (p.Leu313=) c.498C>T (p.Leu166=) n.981C>T n.955C>T c.327C>T (p.Leu109=) n.940C>T n.798C>T | |
21 | g.36936947G>C | CA10020673 | HLCS | c.939C>G (p.Leu313=) c.498C>G (p.Leu166=) n.981C>G n.955C>G c.327C>G (p.Leu109=) n.940C>G n.798C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936947G= | CA2388237010 | HLCS | c.939C= (p.Leu313=) c.498C= (p.Leu166=) n.981C= n.955C= c.327C= (p.Leu109=) n.940C= n.798C= | |
21 | g.36936947G>T | CA512325942 | HLCS | c.939C>A (p.Leu313=) c.498C>A (p.Leu166=) n.981C>A n.955C>A c.327C>A (p.Leu109=) n.940C>A n.798C>A | |
21 | g.36936948A>C | CA409912911 | HLCS | c.938T>G (p.Leu313Arg) c.497T>G (p.Leu166Arg) n.980T>G n.954T>G c.326T>G (p.Leu109Arg) n.939T>G n.797T>G | |
21 | g.36936948A>G | CA409912912 | HLCS | c.938T>C (p.Leu313Pro) c.497T>C (p.Leu166Pro) n.980T>C n.954T>C c.326T>C (p.Leu109Pro) n.939T>C n.797T>C | |
21 | g.36936948A>T | CA409912913 | HLCS | c.938T>A (p.Leu313His) c.497T>A (p.Leu166His) n.980T>A n.954T>A c.326T>A (p.Leu109His) n.939T>A n.797T>A | |
21 | g.36936949G>A | CA409912914 | HLCS | c.937C>T (p.Leu313Phe) c.496C>T (p.Leu166Phe) n.979C>T n.953C>T c.325C>T (p.Leu109Phe) n.938C>T n.796C>T | gnomAD v4 |
21 | g.36936949G>C | CA409912915 | HLCS | c.937C>G (p.Leu313Val) c.496C>G (p.Leu166Val) n.979C>G n.953C>G c.325C>G (p.Leu109Val) n.938C>G n.796C>G | |
21 | g.36936949G>T | CA409912916 | HLCS | c.937C>A (p.Leu313Ile) c.496C>A (p.Leu166Ile) n.979C>A n.953C>A c.325C>A (p.Leu109Ile) n.938C>A n.796C>A | |
21 | g.36936950G>A | CA512325946 | HLCS | c.936C>T (p.Leu312=) c.495C>T (p.Leu165=) n.978C>T n.952C>T c.324C>T (p.Leu108=) n.937C>T n.795C>T | gnomAD v4 |
21 | g.36936950G>C | CA512325943 | HLCS | c.936C>G (p.Leu312=) c.495C>G (p.Leu165=) n.978C>G n.952C>G c.324C>G (p.Leu108=) n.937C>G n.795C>G | |
21 | g.36936950G>T | CA512325944 | HLCS | c.936C>A (p.Leu312=) c.495C>A (p.Leu165=) n.978C>A n.952C>A c.324C>A (p.Leu108=) n.937C>A n.795C>A | |
21 | g.36936951A>C | CA409912917 | HLCS | c.935T>G (p.Leu312Arg) c.494T>G (p.Leu165Arg) n.977T>G n.951T>G c.323T>G (p.Leu108Arg) n.936T>G n.794T>G | |
21 | g.36936951A>G | CA409912918 | HLCS | c.935T>C (p.Leu312Pro) c.494T>C (p.Leu165Pro) n.977T>C n.951T>C c.323T>C (p.Leu108Pro) n.936T>C n.794T>C | |
21 | g.36936951A>T | CA409912919 | HLCS | c.935T>A (p.Leu312His) c.494T>A (p.Leu165His) n.977T>A n.951T>A c.323T>A (p.Leu108His) n.936T>A n.794T>A | |
21 | g.36936952G>A | CA409912920 | HLCS | c.934C>T (p.Leu312Phe) c.493C>T (p.Leu165Phe) n.976C>T n.950C>T c.322C>T (p.Leu108Phe) n.935C>T n.793C>T | gnomAD v4 |
21 | g.36936952G>C | CA409912921 | HLCS | c.934C>G (p.Leu312Val) c.493C>G (p.Leu165Val) n.976C>G n.950C>G c.322C>G (p.Leu108Val) n.935C>G n.793C>G | |
21 | g.36936952G>T | CA409912922 | HLCS | c.934C>A (p.Leu312Ile) c.493C>A (p.Leu165Ile) n.976C>A n.950C>A c.322C>A (p.Leu108Ile) n.935C>A n.793C>A | |
21 | g.36936953G>A | CA16608501 | HLCS | c.933C>T (p.Ile311=) c.492C>T (p.Ile164=) n.975C>T n.949C>T c.321C>T (p.Ile107=) n.934C>T n.792C>T | ClinVar dbSNP |
21 | g.36936953G>C | CA409912923 | HLCS | c.933C>G (p.Ile311Met) c.492C>G (p.Ile164Met) n.975C>G n.949C>G c.321C>G (p.Ile107Met) n.934C>G n.792C>G | |
21 | g.36936953G= | CA2388237011 | HLCS | c.933C= (p.Ile311=) c.492C= (p.Ile164=) n.975C= n.949C= c.321C= (p.Ile107=) n.934C= n.792C= | |
21 | g.36936953G>T | CA512325948 | HLCS | c.933C>A (p.Ile311=) c.492C>A (p.Ile164=) n.975C>A n.949C>A c.321C>A (p.Ile107=) n.934C>A n.792C>A | |
21 | g.36936954A>C | CA409912924 | HLCS | c.932T>G (p.Ile311Ser) c.491T>G (p.Ile164Ser) n.974T>G n.948T>G c.320T>G (p.Ile107Ser) n.933T>G n.791T>G | |
21 | g.36936954A>G | CA409912925 | HLCS | c.932T>C (p.Ile311Thr) c.491T>C (p.Ile164Thr) n.974T>C n.948T>C c.320T>C (p.Ile107Thr) n.933T>C n.791T>C | |
21 | g.36936954A>T | CA409912926 | HLCS | c.932T>A (p.Ile311Asn) c.491T>A (p.Ile164Asn) n.974T>A n.948T>A c.320T>A (p.Ile107Asn) n.933T>A n.791T>A | |
21 | g.36936955T>A | CA409912927 | HLCS | c.931A>T (p.Ile311Phe) c.490A>T (p.Ile164Phe) n.973A>T n.947A>T c.319A>T (p.Ile107Phe) n.932A>T n.790A>T | |
21 | g.36936955T>C | CA409912928 | HLCS | c.931A>G (p.Ile311Val) c.490A>G (p.Ile164Val) n.973A>G n.947A>G c.319A>G (p.Ile107Val) n.932A>G n.790A>G | dbSNP |
21 | g.36936955T>G | CA409912929 | HLCS | c.931A>C (p.Ile311Leu) c.490A>C (p.Ile164Leu) n.973A>C n.947A>C c.319A>C (p.Ile107Leu) n.932A>C n.790A>C | |
21 | g.36936955T= | CA2388237012 | HLCS | c.931A= (p.Ile311=) c.490A= (p.Ile164=) n.973A= n.947A= c.319A= (p.Ile107=) n.932A= n.790A= | |
21 | g.36936956G>A | CA512325950 | HLCS | c.930C>T (p.Asn310=) c.489C>T (p.Asn163=) n.972C>T n.946C>T c.318C>T (p.Asn106=) n.931C>T n.789C>T | |
21 | g.36936956G>C | CA409912930 | HLCS | c.930C>G (p.Asn310Lys) c.489C>G (p.Asn163Lys) n.972C>G n.946C>G c.318C>G (p.Asn106Lys) n.931C>G n.789C>G | |
21 | g.36936956G>T | CA409912931 | HLCS | c.930C>A (p.Asn310Lys) c.489C>A (p.Asn163Lys) n.972C>A n.946C>A c.318C>A (p.Asn106Lys) n.931C>A n.789C>A | |
21 | g.36936957T>A | CA409912932 | HLCS | c.929A>T (p.Asn310Ile) c.488A>T (p.Asn163Ile) n.971A>T n.945A>T c.317A>T (p.Asn106Ile) n.930A>T n.788A>T | |
21 | g.36936957T>C | CA409912933 | HLCS | c.929A>G (p.Asn310Ser) c.488A>G (p.Asn163Ser) n.971A>G n.945A>G c.317A>G (p.Asn106Ser) n.930A>G n.788A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936957T>G | CA409912934 | HLCS | c.929A>C (p.Asn310Thr) c.488A>C (p.Asn163Thr) n.971A>C n.945A>C c.317A>C (p.Asn106Thr) n.930A>C n.788A>C | |
21 | g.36936957T= | CA2388237013 | HLCS | c.929A= (p.Asn310=) c.488A= (p.Asn163=) n.971A= n.945A= c.317A= (p.Asn106=) n.930A= n.788A= | |
21 | g.36936958del | CA2695201449 | HLCS | c.929del (p.Asn310ThrfsTer?) c.488del (p.Asn163ThrfsTer?) n.971del n.945del c.317del (p.Asn106ThrfsTer?) n.930del n.788del | ClinVar |
21 | g.36936958T>A | CA409912935 | HLCS | c.928A>T (p.Asn310Tyr) c.487A>T (p.Asn163Tyr) n.970A>T n.944A>T c.316A>T (p.Asn106Tyr) n.929A>T n.787A>T | |
21 | g.36936958T>C | CA409912936 | HLCS | c.928A>G (p.Asn310Asp) c.487A>G (p.Asn163Asp) n.970A>G n.944A>G c.316A>G (p.Asn106Asp) n.929A>G n.787A>G | gnomAD v4 |
21 | g.36936958T>G | CA409912937 | HLCS | c.928A>C (p.Asn310His) c.487A>C (p.Asn163His) n.970A>C n.944A>C c.316A>C (p.Asn106His) n.929A>C n.787A>C | |
21 | g.36936958_36936959delinsTG | CA2388237014 | HLCS | c.927_928delinsCA (p.Pro309=) c.486_487delinsCA (p.Pro162=) n.969_970delinsCA n.943_944delinsCA c.315_316delinsCA (p.Pro105=) n.928_929delinsCA n.786_787delinsCA | |
21 | g.36936959G>A | CA512325951 | HLCS | c.927C>T (p.Pro309=) c.486C>T (p.Pro162=) n.969C>T n.943C>T c.315C>T (p.Pro105=) n.928C>T n.786C>T | |
21 | g.36936959G>C | CA512325953 | HLCS | c.927C>G (p.Pro309=) c.486C>G (p.Pro162=) n.969C>G n.943C>G c.315C>G (p.Pro105=) n.928C>G n.786C>G | |
21 | g.36936959G>T | CA512325952 | HLCS | c.927C>A (p.Pro309=) c.486C>A (p.Pro162=) n.969C>A n.943C>A c.315C>A (p.Pro105=) n.928C>A n.786C>A | ClinVar |
21 | g.36936961del | CA638055757 | HLCS | c.927del (p.Asn310ThrfsTer?) c.486del (p.Asn163ThrfsTer?) n.969del n.943del c.315del (p.Asn106ThrfsTer?) n.928del n.786del | dbSNP gnomAD v2 gnomAD v4 |
21 | g.36936960G>A | CA10020674 | HLCS | c.926C>T (p.Pro309Leu) c.485C>T (p.Pro162Leu) n.968C>T n.942C>T c.314C>T (p.Pro105Leu) n.927C>T n.785C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.36936960G>C | CA409912939 | HLCS | c.926C>G (p.Pro309Arg) c.485C>G (p.Pro162Arg) n.968C>G n.942C>G c.314C>G (p.Pro105Arg) n.927C>G n.785C>G | dbSNP gnomAD v3 gnomAD v4 |
21 | g.36936960G= | CA2388237015 | HLCS | c.926C= (p.Pro309=) c.485C= (p.Pro162=) n.968C= n.942C= c.314C= (p.Pro105=) n.927C= n.785C= | |
21 | g.36936960G>T | CA409912938 | HLCS | c.926C>A (p.Pro309His) c.485C>A (p.Pro162His) n.968C>A n.942C>A c.314C>A (p.Pro105His) n.927C>A n.785C>A | gnomAD v4 |
21 | g.36936961G>A | CA409912940 | HLCS | c.925C>T (p.Pro309Ser) c.484C>T (p.Pro162Ser) n.967C>T n.941C>T c.313C>T (p.Pro105Ser) n.926C>T n.784C>T | |
21 | g.36936961G>C | CA409912941 | HLCS | c.925C>G (p.Pro309Ala) c.484C>G (p.Pro162Ala) n.967C>G n.941C>G c.313C>G (p.Pro105Ala) n.926C>G n.784C>G | |
21 | g.36936961G>T | CA409912942 | HLCS | c.925C>A (p.Pro309Thr) c.484C>A (p.Pro162Thr) n.967C>A n.941C>A c.313C>A (p.Pro105Thr) n.926C>A n.784C>A | |
21 | g.36936962T>A | CA512325955 | HLCS | c.924A>T (p.Ala308=) c.483A>T (p.Ala161=) n.966A>T n.940A>T c.312A>T (p.Ala104=) n.925A>T n.783A>T | |
21 | g.36936962T>C | CA512325956 | HLCS | c.924A>G (p.Ala308=) c.483A>G (p.Ala161=) n.966A>G n.940A>G c.312A>G (p.Ala104=) n.925A>G n.783A>G | ClinVar |
21 | g.36936962T>G | CA512325957 | HLCS | c.924A>C (p.Ala308=) c.483A>C (p.Ala161=) n.966A>C n.940A>C c.312A>C (p.Ala104=) n.925A>C n.783A>C | |
21 | g.36936963G>A | CA409912943 | HLCS | c.923C>T (p.Ala308Val) c.482C>T (p.Ala161Val) n.965C>T n.939C>T c.311C>T (p.Ala104Val) n.924C>T n.782C>T | gnomAD v4 |
21 | g.36936963G>C | CA409912944 | HLCS | c.923C>G (p.Ala308Gly) c.482C>G (p.Ala161Gly) n.965C>G n.939C>G c.311C>G (p.Ala104Gly) n.924C>G n.782C>G | |
21 | g.36936963G>T | CA409912945 | HLCS | c.923C>A (p.Ala308Glu) c.482C>A (p.Ala161Glu) n.965C>A n.939C>A c.311C>A (p.Ala104Glu) n.924C>A n.782C>A | |
21 | g.36936964C>A | CA10020675 | HLCS | c.922G>T (p.Ala308Ser) c.481G>T (p.Ala161Ser) n.964G>T n.938G>T c.310G>T (p.Ala104Ser) n.923G>T n.781G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936964C= | CA2388237016 | HLCS | c.922G= (p.Ala308=) c.481G= (p.Ala161=) n.964G= n.938G= c.310G= (p.Ala104=) n.923G= n.781G= | |
21 | g.36936964C>G | CA409912946 | HLCS | c.922G>C (p.Ala308Pro) c.481G>C (p.Ala161Pro) n.964G>C n.938G>C c.310G>C (p.Ala104Pro) n.923G>C n.781G>C | |
21 | g.36936964C>T | CA409912947 | HLCS | c.922G>A (p.Ala308Thr) c.481G>A (p.Ala161Thr) n.964G>A n.938G>A c.310G>A (p.Ala104Thr) n.923G>A n.781G>A | gnomAD v4 COSMIC |
21 | g.36936965C>A | CA409912948 | HLCS | c.921G>T (p.Lys307Asn) c.480G>T (p.Lys160Asn) n.963G>T n.937G>T c.309G>T (p.Lys103Asn) n.922G>T n.780G>T | |
21 | g.36936965C= | CA2388237017 | HLCS | c.921G= (p.Lys307=) c.480G= (p.Lys160=) n.963G= n.937G= c.309G= (p.Lys103=) n.922G= n.780G= | |
21 | g.36936965C>G | CA409912949 | HLCS | c.921G>C (p.Lys307Asn) c.480G>C (p.Lys160Asn) n.963G>C n.937G>C c.309G>C (p.Lys103Asn) n.922G>C n.780G>C | dbSNP |
21 | g.36936965C>T | CA512325961 | HLCS | c.921G>A (p.Lys307=) c.480G>A (p.Lys160=) n.963G>A n.937G>A c.309G>A (p.Lys103=) n.922G>A n.780G>A | |
21 | g.36936966T>A | CA409912950 | HLCS | c.920A>T (p.Lys307Met) c.479A>T (p.Lys160Met) n.962A>T n.936A>T c.308A>T (p.Lys103Met) n.921A>T n.779A>T | |
21 | g.36936966T>C | CA409912951 | HLCS | c.920A>G (p.Lys307Arg) c.479A>G (p.Lys160Arg) n.962A>G n.936A>G c.308A>G (p.Lys103Arg) n.921A>G n.779A>G | |
21 | g.36936966T>G | CA409912952 | HLCS | c.920A>C (p.Lys307Thr) c.479A>C (p.Lys160Thr) n.962A>C n.936A>C c.308A>C (p.Lys103Thr) n.921A>C n.779A>C | |
21 | g.36936967T>A | CA409912953 | HLCS | c.919A>T (p.Lys307Ter) c.478A>T (p.Lys160Ter) n.961A>T n.935A>T c.307A>T (p.Lys103Ter) n.920A>T n.778A>T | |
21 | g.36936967T>C | CA10020676 | HLCS | c.919A>G (p.Lys307Glu) c.478A>G (p.Lys160Glu) n.961A>G n.935A>G c.307A>G (p.Lys103Glu) n.920A>G n.778A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936967T>G | CA409912954 | HLCS | c.919A>C (p.Lys307Gln) c.478A>C (p.Lys160Gln) n.961A>C n.935A>C c.307A>C (p.Lys103Gln) n.920A>C n.778A>C | |
21 | g.36936967T= | CA2388237018 | HLCS | c.919A= (p.Lys307=) c.478A= (p.Lys160=) n.961A= n.935A= c.307A= (p.Lys103=) n.920A= n.778A= | |
21 | g.36936968T>A | CA512325962 | HLCS | c.918A>T (p.Gly306=) c.477A>T (p.Gly159=) n.960A>T n.934A>T c.306A>T (p.Gly102=) n.919A>T n.777A>T | gnomAD v4 |
21 | g.36936968T>C | CA10020677 | HLCS | c.918A>G (p.Gly306=) c.477A>G (p.Gly159=) n.960A>G n.934A>G c.306A>G (p.Gly102=) n.919A>G n.777A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936968T>G | CA512325964 | HLCS | c.918A>C (p.Gly306=) c.477A>C (p.Gly159=) n.960A>C n.934A>C c.306A>C (p.Gly102=) n.919A>C n.777A>C | |
21 | g.36936968T= | CA2388237019 | HLCS | c.918A= (p.Gly306=) c.477A= (p.Gly159=) n.960A= n.934A= c.306A= (p.Gly102=) n.919A= n.777A= | |
21 | g.36936969C>A | CA409912955 | HLCS | c.917G>T (p.Gly306Val) c.476G>T (p.Gly159Val) n.959G>T n.933G>T c.305G>T (p.Gly102Val) n.918G>T n.776G>T | dbSNP gnomAD v2 gnomAD v4 |
21 | g.36936969C= | CA2388237020 | HLCS | c.917G= (p.Gly306=) c.476G= (p.Gly159=) n.959G= n.933G= c.305G= (p.Gly102=) n.918G= n.776G= | |
21 | g.36936969C>G | CA409912956 | HLCS | c.917G>C (p.Gly306Ala) c.476G>C (p.Gly159Ala) n.959G>C n.933G>C c.305G>C (p.Gly102Ala) n.918G>C n.776G>C | |
21 | g.36936969C>T | CA409912957 | HLCS | c.917G>A (p.Gly306Glu) c.476G>A (p.Gly159Glu) n.959G>A n.933G>A c.305G>A (p.Gly102Glu) n.918G>A n.776G>A | |
21 | g.36936970C>A | CA409912958 | HLCS | c.916G>T (p.Gly306Ter) c.475G>T (p.Gly159Ter) n.958G>T n.932G>T c.304G>T (p.Gly102Ter) n.917G>T n.775G>T | |
21 | g.36936970C>G | CA409912959 | HLCS | c.916G>C (p.Gly306Arg) c.475G>C (p.Gly159Arg) n.958G>C n.932G>C c.304G>C (p.Gly102Arg) n.917G>C n.775G>C | |
21 | g.36936970C>T | CA409912960 | HLCS | c.916G>A (p.Gly306Arg) c.475G>A (p.Gly159Arg) n.958G>A n.932G>A c.304G>A (p.Gly102Arg) n.917G>A n.775G>A | |
21 | g.36936971C>A | CA512325967 | HLCS | c.915G>T (p.Thr305=) c.474G>T (p.Thr158=) n.957G>T n.931G>T c.303G>T (p.Thr101=) n.916G>T n.774G>T | |
21 | g.36936971C= | CA2388237021 | HLCS | c.915G= (p.Thr305=) c.474G= (p.Thr158=) n.957G= n.931G= c.303G= (p.Thr101=) n.916G= n.774G= | |
21 | g.36936971C>G | CA512325968 | HLCS | c.915G>C (p.Thr305=) c.474G>C (p.Thr158=) n.957G>C n.931G>C c.303G>C (p.Thr101=) n.916G>C n.774G>C | |
21 | g.36936971C>T | CA320395686 | HLCS | c.915G>A (p.Thr305=) c.474G>A (p.Thr158=) n.957G>A n.931G>A c.303G>A (p.Thr101=) n.916G>A n.774G>A | ClinVar dbSNP gnomAD v4 |
21 | g.36936972G>A | CA312605 | HLCS | c.914C>T (p.Thr305Met) c.473C>T (p.Thr158Met) n.956C>T n.930C>T c.302C>T (p.Thr101Met) n.915C>T n.773C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936972G>C | CA409912961 | HLCS | c.914C>G (p.Thr305Arg) c.473C>G (p.Thr158Arg) n.956C>G n.930C>G c.302C>G (p.Thr101Arg) n.915C>G n.773C>G | dbSNP |
21 | g.36936972G= | CA2388237022 | HLCS | c.914C= (p.Thr305=) c.473C= (p.Thr158=) n.956C= n.930C= c.302C= (p.Thr101=) n.915C= n.773C= | |
21 | g.36936972G>T | CA409912962 | HLCS | c.914C>A (p.Thr305Lys) c.473C>A (p.Thr158Lys) n.956C>A n.930C>A c.302C>A (p.Thr101Lys) n.915C>A n.773C>A | |
21 | g.36936973T>A | CA409912963 | HLCS | c.913A>T (p.Thr305Ser) c.472A>T (p.Thr158Ser) n.955A>T n.929A>T c.301A>T (p.Thr101Ser) n.914A>T n.772A>T | |
21 | g.36936973T>C | CA409912965 | HLCS | c.913A>G (p.Thr305Ala) c.472A>G (p.Thr158Ala) n.955A>G n.929A>G c.301A>G (p.Thr101Ala) n.914A>G n.772A>G | |
21 | g.36936973T>G | CA409912964 | HLCS | c.913A>C (p.Thr305Pro) c.472A>C (p.Thr158Pro) n.955A>C n.929A>C c.301A>C (p.Thr101Pro) n.914A>C n.772A>C | dbSNP gnomAD v4 |
21 | g.36936973T= | CA2388237023 | HLCS | c.913A= (p.Thr305=) c.472A= (p.Thr158=) n.955A= n.929A= c.301A= (p.Thr101=) n.914A= n.772A= | |
21 | g.36936973_36936975del | CA2654438664 | HLCS | c.911_913del (p.Leu304_Thr305delinsPro) c.470_472del (p.Leu157_Thr158delinsPro) n.953_955del n.927_929del c.299_301del (p.Leu100_Thr101delinsPro) n.912_914del n.770_772del | gnomAD v4 |
21 | g.36936974G>A | CA512325971 | HLCS | c.912C>T (p.Leu304=) c.471C>T (p.Leu157=) n.954C>T n.928C>T c.300C>T (p.Leu100=) n.913C>T n.771C>T | |
21 | g.36936974G>C | CA512325969 | HLCS | c.912C>G (p.Leu304=) c.471C>G (p.Leu157=) n.954C>G n.928C>G c.300C>G (p.Leu100=) n.913C>G n.771C>G | |
21 | g.36936974G>T | CA512325970 | HLCS | c.912C>A (p.Leu304=) c.471C>A (p.Leu157=) n.954C>A n.928C>A c.300C>A (p.Leu100=) n.913C>A n.771C>A | |
21 | g.36936975A>C | CA409912966 | HLCS | c.911T>G (p.Leu304Arg) c.470T>G (p.Leu157Arg) n.953T>G n.927T>G c.299T>G (p.Leu100Arg) n.912T>G n.770T>G | |
21 | g.36936975A>G | CA409912968 | HLCS | c.911T>C (p.Leu304Pro) c.470T>C (p.Leu157Pro) n.953T>C n.927T>C c.299T>C (p.Leu100Pro) n.912T>C n.770T>C | |
21 | g.36936975A>T | CA409912967 | HLCS | c.911T>A (p.Leu304His) c.470T>A (p.Leu157His) n.953T>A n.927T>A c.299T>A (p.Leu100His) n.912T>A n.770T>A | |
21 | g.36936976G>A | CA10020678 | HLCS | c.910C>T (p.Leu304Phe) c.469C>T (p.Leu157Phe) n.952C>T n.926C>T c.298C>T (p.Leu100Phe) n.911C>T n.769C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936976G>C | CA409912969 | HLCS | c.910C>G (p.Leu304Val) c.469C>G (p.Leu157Val) n.952C>G n.926C>G c.298C>G (p.Leu100Val) n.911C>G n.769C>G | |
21 | g.36936976G= | CA2388237024 | HLCS | c.910C= (p.Leu304=) c.469C= (p.Leu157=) n.952C= n.926C= c.298C= (p.Leu100=) n.911C= n.769C= | |
21 | g.36936976G>T | CA409912970 | HLCS | c.910C>A (p.Leu304Ile) c.469C>A (p.Leu157Ile) n.952C>A n.926C>A c.298C>A (p.Leu100Ile) n.911C>A n.769C>A | |
21 | g.36936977G>A | CA512325972 | HLCS | c.909C>T (p.Asn303=) c.468C>T (p.Asn156=) n.951C>T n.925C>T c.297C>T (p.Asn99=) n.910C>T n.768C>T | |
21 | g.36936977G>C | CA409912971 | HLCS | c.909C>G (p.Asn303Lys) c.468C>G (p.Asn156Lys) n.951C>G n.925C>G c.297C>G (p.Asn99Lys) n.910C>G n.768C>G | |
21 | g.36936977G= | CA2388237025 | HLCS | c.909C= (p.Asn303=) c.468C= (p.Asn156=) n.951C= n.925C= c.297C= (p.Asn99=) n.910C= n.768C= | |
21 | g.36936977G>T | CA409912972 | HLCS | c.909C>A (p.Asn303Lys) c.468C>A (p.Asn156Lys) n.951C>A n.925C>A c.297C>A (p.Asn99Lys) n.910C>A n.768C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
21 | g.36936978T>A | CA320395694 | HLCS | c.908A>T (p.Asn303Ile) c.467A>T (p.Asn156Ile) n.950A>T n.924A>T c.296A>T (p.Asn99Ile) n.909A>T n.767A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936978T>C | CA409912973 | HLCS | c.908A>G (p.Asn303Ser) c.467A>G (p.Asn156Ser) n.950A>G n.924A>G c.296A>G (p.Asn99Ser) n.909A>G n.767A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936978T>G | CA409912974 | HLCS | c.908A>C (p.Asn303Thr) c.467A>C (p.Asn156Thr) n.950A>C n.924A>C c.296A>C (p.Asn99Thr) n.909A>C n.767A>C | |
21 | g.36936978T= | CA2388237026 | HLCS | c.908A= (p.Asn303=) c.467A= (p.Asn156=) n.950A= n.924A= c.296A= (p.Asn99=) n.909A= n.767A= | |
21 | g.36936979del | CA2654438665 | HLCS | c.908del (p.Asn303ThrfsTer?) c.467del (p.Asn156ThrfsTer?) n.950del n.924del c.296del (p.Asn99ThrfsTer?) n.909del n.767del | gnomAD v4 |
21 | g.36936979T>A | CA409912975 | HLCS | c.907A>T (p.Asn303Tyr) c.466A>T (p.Asn156Tyr) n.949A>T n.923A>T c.295A>T (p.Asn99Tyr) n.908A>T n.766A>T | |
21 | g.36936979T>C | CA409912976 | HLCS | c.907A>G (p.Asn303Asp) c.466A>G (p.Asn156Asp) n.949A>G n.923A>G c.295A>G (p.Asn99Asp) n.908A>G n.766A>G | |
21 | g.36936979T>G | CA409912977 | HLCS | c.907A>C (p.Asn303His) c.466A>C (p.Asn156His) n.949A>C n.923A>C c.295A>C (p.Asn99His) n.908A>C n.766A>C | |
21 | g.36936979_36936981delinsTGA | CA2388237027 | HLCS | c.905_907delinsTCA (p.Val302=) c.464_466delinsTCA (p.Val155=) n.947_949delinsTCA n.921_923delinsTCA c.293_295delinsTCA (p.Val98=) n.906_908delinsTCA n.764_766delinsTCA | |
21 | g.36936980G>A | CA512325974 | HLCS | c.906C>T (p.Val302=) c.465C>T (p.Val155=) n.948C>T n.922C>T c.294C>T (p.Val98=) n.907C>T n.765C>T | |
21 | g.36936980G>C | CA512325975 | HLCS | c.906C>G (p.Val302=) c.465C>G (p.Val155=) n.948C>G n.922C>G c.294C>G (p.Val98=) n.907C>G n.765C>G | |
21 | g.36936980G>T | CA512325976 | HLCS | c.906C>A (p.Val302=) c.465C>A (p.Val155=) n.948C>A n.922C>A c.294C>A (p.Val98=) n.907C>A n.765C>A | |
21 | g.36936980_36936981del | CA10020679 | HLCS | c.905_906del (p.Val302GlufsTer?) c.464_465del (p.Val155GlufsTer?) n.947_948del n.921_922del c.293_294del (p.Val98GlufsTer?) n.906_907del n.764_765del | dbSNP ExAC |
21 | g.36936981A>C | CA409912980 | HLCS | c.905T>G (p.Val302Gly) c.464T>G (p.Val155Gly) n.947T>G n.921T>G c.293T>G (p.Val98Gly) n.906T>G n.764T>G | |
21 | g.36936981A>G | CA409912978 | HLCS | c.905T>C (p.Val302Ala) c.464T>C (p.Val155Ala) n.947T>C n.921T>C c.293T>C (p.Val98Ala) n.906T>C n.764T>C | |
21 | g.36936981A>T | CA409912979 | HLCS | c.905T>A (p.Val302Asp) c.464T>A (p.Val155Asp) n.947T>A n.921T>A c.293T>A (p.Val98Asp) n.906T>A n.764T>A | |
21 | g.36936982C>A | CA409912981 | HLCS | c.904G>T (p.Val302Phe) c.463G>T (p.Val155Phe) n.946G>T n.920G>T c.292G>T (p.Val98Phe) n.905G>T n.763G>T | |
21 | g.36936982C>G | CA409912982 | HLCS | c.904G>C (p.Val302Leu) c.463G>C (p.Val155Leu) n.946G>C n.920G>C c.292G>C (p.Val98Leu) n.905G>C n.763G>C | |
21 | g.36936982C>T | CA409912983 | HLCS | c.904G>A (p.Val302Ile) c.463G>A (p.Val155Ile) n.946G>A n.920G>A c.292G>A (p.Val98Ile) n.905G>A n.763G>A | gnomAD v4 |
21 | g.36936983T>A | CA409912984 | HLCS | c.903A>T (p.Arg301Ser) c.462A>T (p.Arg154Ser) n.945A>T n.919A>T c.291A>T (p.Arg97Ser) n.904A>T n.762A>T | |
21 | g.36936983T>C | CA512325978 | HLCS | c.903A>G (p.Arg301=) c.462A>G (p.Arg154=) n.945A>G n.919A>G c.291A>G (p.Arg97=) n.904A>G n.762A>G | |
21 | g.36936983T>G | CA409912985 | HLCS | c.903A>C (p.Arg301Ser) c.462A>C (p.Arg154Ser) n.945A>C n.919A>C c.291A>C (p.Arg97Ser) n.904A>C n.762A>C | |
21 | g.36936984C>A | CA409912986 | HLCS | c.902G>T (p.Arg301Ile) c.461G>T (p.Arg154Ile) n.944G>T n.918G>T c.290G>T (p.Arg97Ile) n.903G>T n.761G>T | |
21 | g.36936984C= | CA2388237028 | HLCS | c.902G= (p.Arg301=) c.461G= (p.Arg154=) n.944G= n.918G= c.290G= (p.Arg97=) n.903G= n.761G= | |
21 | g.36936984C>G | CA409912987 | HLCS | c.902G>C (p.Arg301Thr) c.461G>C (p.Arg154Thr) n.944G>C n.918G>C c.290G>C (p.Arg97Thr) n.903G>C n.761G>C | |
21 | g.36936984C>T | CA409912988 | HLCS | c.902G>A (p.Arg301Lys) c.461G>A (p.Arg154Lys) n.944G>A n.918G>A c.290G>A (p.Arg97Lys) n.903G>A n.761G>A | dbSNP |
21 | g.36936985T>A | CA409912989 | HLCS | c.901A>T (p.Arg301Ter) c.460A>T (p.Arg154Ter) n.943A>T n.917A>T c.289A>T (p.Arg97Ter) n.902A>T n.760A>T | |
21 | g.36936985T>C | CA409912990 | HLCS | c.901A>G (p.Arg301Gly) c.460A>G (p.Arg154Gly) n.943A>G n.917A>G c.289A>G (p.Arg97Gly) n.902A>G n.760A>G | |
21 | g.36936985T>G | CA512325981 | HLCS | c.901A>C (p.Arg301=) c.460A>C (p.Arg154=) n.943A>C n.917A>C c.289A>C (p.Arg97=) n.902A>C n.760A>C | |
21 | g.36936986C>A | CA409912992 | HLCS | c.900G>T (p.Arg300Ser) c.459G>T (p.Arg153Ser) n.942G>T n.916G>T c.288G>T (p.Arg96Ser) n.901G>T n.759G>T | |
21 | g.36936986C= | CA2388237029 | HLCS | c.900G= (p.Arg300=) c.459G= (p.Arg153=) n.942G= n.916G= c.288G= (p.Arg96=) n.901G= n.759G= | |
21 | g.36936986C>G | CA409912991 | HLCS | c.900G>C (p.Arg300Ser) c.459G>C (p.Arg153Ser) n.942G>C n.916G>C c.288G>C (p.Arg96Ser) n.901G>C n.759G>C | |
21 | g.36936986C>T | CA10020680 | HLCS | c.900G>A (p.Arg300=) c.459G>A (p.Arg153=) n.942G>A n.916G>A c.288G>A (p.Arg96=) n.901G>A n.759G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936987C>A | CA409912993 | HLCS | c.899G>T (p.Arg300Met) c.458G>T (p.Arg153Met) n.941G>T n.915G>T c.287G>T (p.Arg96Met) n.900G>T n.758G>T | |
21 | g.36936987C= | CA2388237030 | HLCS | c.899G= (p.Arg300=) c.458G= (p.Arg153=) n.941G= n.915G= c.287G= (p.Arg96=) n.900G= n.758G= | |
21 | g.36936987C>G | CA409912994 | HLCS | c.899G>C (p.Arg300Thr) c.458G>C (p.Arg153Thr) n.941G>C n.915G>C c.287G>C (p.Arg96Thr) n.900G>C n.758G>C | |
21 | g.36936987C>T | CA10020681 | HLCS | c.899G>A (p.Arg300Lys) c.458G>A (p.Arg153Lys) n.941G>A n.915G>A c.287G>A (p.Arg96Lys) n.900G>A n.758G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36936988T>A | CA409912995 | HLCS | c.898A>T (p.Arg300Trp) c.457A>T (p.Arg153Trp) n.940A>T n.914A>T c.286A>T (p.Arg96Trp) n.899A>T n.757A>T | |
21 | g.36936988T>C | CA409912996 | HLCS | c.898A>G (p.Arg300Gly) c.457A>G (p.Arg153Gly) n.940A>G n.914A>G c.286A>G (p.Arg96Gly) n.899A>G n.757A>G | dbSNP gnomAD v2 gnomAD v4 |
21 | g.36936988T>G | CA512325806 | HLCS | c.898A>C (p.Arg300=) c.457A>C (p.Arg153=) n.940A>C n.914A>C c.286A>C (p.Arg96=) n.899A>C n.757A>C | |
21 | g.36936988T= | CA2388237031 | HLCS | c.898A= (p.Arg300=) c.457A= (p.Arg153=) n.940A= n.914A= c.286A= (p.Arg96=) n.899A= n.757A= | |
21 | g.36936989C>A | CA512325807 | HLCS | c.897G>T (p.Gly299=) c.456G>T (p.Gly152=) n.939G>T n.913G>T c.285G>T (p.Gly95=) n.898G>T n.756G>T | |
21 | g.36936989C>G | CA512325809 | HLCS | c.897G>C (p.Gly299=) c.456G>C (p.Gly152=) n.939G>C n.913G>C c.285G>C (p.Gly95=) n.898G>C n.756G>C | |
21 | g.36936989C>T | CA512325810 | HLCS | c.897G>A (p.Gly299=) c.456G>A (p.Gly152=) n.939G>A n.913G>A c.285G>A (p.Gly95=) n.898G>A n.756G>A | |
21 | g.36936990C>A | CA409912997 | HLCS | c.896G>T (p.Gly299Val) c.455G>T (p.Gly152Val) n.938G>T n.912G>T c.284G>T (p.Gly95Val) n.897G>T n.755G>T | gnomAD v4 |
21 | g.36936990C>G | CA409912998 | HLCS | c.896G>C (p.Gly299Ala) c.455G>C (p.Gly152Ala) n.938G>C n.912G>C c.284G>C (p.Gly95Ala) n.897G>C n.755G>C | |
21 | g.36936990C>T | CA409912999 | HLCS | c.896G>A (p.Gly299Glu) c.455G>A (p.Gly152Glu) n.938G>A n.912G>A c.284G>A (p.Gly95Glu) n.897G>A n.755G>A | gnomAD v4 |
21 | g.36936991C>A | CA409913000 | HLCS | c.895G>T (p.Gly299Trp) c.454G>T (p.Gly152Trp) n.937G>T n.911G>T c.283G>T (p.Gly95Trp) n.896G>T n.754G>T | |
21 | g.36936991C= | CA2388237032 | HLCS | c.895G= (p.Gly299=) c.454G= (p.Gly152=) n.937G= n.911G= c.283G= (p.Gly95=) n.896G= n.754G= | |
21 | g.36936991C>G | CA409913001 | HLCS | c.895G>C (p.Gly299Arg) c.454G>C (p.Gly152Arg) n.937G>C n.911G>C c.283G>C (p.Gly95Arg) n.896G>C n.754G>C | |
21 | g.36936991C>T | CA409913002 | HLCS | c.895G>A (p.Gly299Arg) c.454G>A (p.Gly152Arg) n.937G>A n.911G>A c.283G>A (p.Gly95Arg) n.896G>A n.754G>A | dbSNP |
21 | g.36936992T>A | CA409913003 | HLCS | c.894A>T (p.Glu298Asp) c.453A>T (p.Glu151Asp) n.936A>T n.910A>T c.282A>T (p.Glu94Asp) n.895A>T n.753A>T | dbSNP |
21 | g.36936992T>C | CA512325813 | HLCS | c.894A>G (p.Glu298=) c.453A>G (p.Glu151=) n.936A>G n.910A>G c.282A>G (p.Glu94=) n.895A>G n.753A>G | |
21 | g.36936992T>G | CA409913004 | HLCS | c.894A>C (p.Glu298Asp) c.453A>C (p.Glu151Asp) n.936A>C n.910A>C c.282A>C (p.Glu94Asp) n.895A>C n.753A>C | |
21 | g.36936993T>A | CA409913007 | HLCS | c.893A>T (p.Glu298Val) c.452A>T (p.Glu151Val) n.935A>T n.909A>T c.281A>T (p.Glu94Val) n.894A>T n.752A>T | |
21 | g.36936993T>C | CA409913005 | HLCS | c.893A>G (p.Glu298Gly) c.452A>G (p.Glu151Gly) n.935A>G n.909A>G c.281A>G (p.Glu94Gly) n.894A>G n.752A>G | |
21 | g.36936993T>G | CA409913006 | HLCS | c.893A>C (p.Glu298Ala) c.452A>C (p.Glu151Ala) n.935A>C n.909A>C c.281A>C (p.Glu94Ala) n.894A>C n.752A>C | |
21 | g.36936994C>A | CA409913008 | HLCS | c.892G>T (p.Glu298Ter) c.451G>T (p.Glu151Ter) n.934G>T n.908G>T c.280G>T (p.Glu94Ter) n.893G>T n.751G>T | |
21 | g.36936994C>G | CA409913009 | HLCS | c.892G>C (p.Glu298Gln) c.451G>C (p.Glu151Gln) n.934G>C n.908G>C c.280G>C (p.Glu94Gln) n.893G>C n.751G>C | |
21 | g.36936994C>T | CA409913010 | HLCS | c.892G>A (p.Glu298Lys) c.451G>A (p.Glu151Lys) n.934G>A n.908G>A c.280G>A (p.Glu94Lys) n.893G>A n.751G>A | |
21 | g.36936995T>A | CA409913011 | HLCS | c.891A>T (p.Arg297Ser) c.450A>T (p.Arg150Ser) n.933A>T n.907A>T c.279A>T (p.Arg93Ser) n.892A>T n.750A>T | |
21 | g.36936995T>C | CA512325816 | HLCS | c.891A>G (p.Arg297=) c.450A>G (p.Arg150=) n.933A>G n.907A>G c.279A>G (p.Arg93=) n.892A>G n.750A>G | |
21 | g.36936995T>G | CA409913012 | HLCS | c.891A>C (p.Arg297Ser) c.450A>C (p.Arg150Ser) n.933A>C n.907A>C c.279A>C (p.Arg93Ser) n.892A>C n.750A>C | |
21 | g.36936996C>A | CA409913013 | HLCS | c.890G>T (p.Arg297Ile) c.449G>T (p.Arg150Ile) n.932G>T n.906G>T c.278G>T (p.Arg93Ile) n.891G>T n.749G>T | |
21 | g.36936996C= | CA2388237033 | HLCS | c.890G= (p.Arg297=) c.449G= (p.Arg150=) n.932G= n.906G= c.278G= (p.Arg93=) n.891G= n.749G= | |
21 | g.36936996C>G | CA409913014 | HLCS | c.890G>C (p.Arg297Thr) c.449G>C (p.Arg150Thr) n.932G>C n.906G>C c.278G>C (p.Arg93Thr) n.891G>C n.749G>C | |
21 | g.36936996C>T | CA320395700 | HLCS | c.890G>A (p.Arg297Lys) c.449G>A (p.Arg150Lys) n.932G>A n.906G>A c.278G>A (p.Arg93Lys) n.891G>A n.749G>A | dbSNP gnomAD v4 |
21 | g.36936997T>A | CA409913015 | HLCS | c.889A>T (p.Arg297Ter) c.448A>T (p.Arg150Ter) n.931A>T n.905A>T c.277A>T (p.Arg93Ter) n.890A>T n.748A>T | |
21 | g.36936997T>C | CA409913016 | HLCS | c.889A>G (p.Arg297Gly) c.448A>G (p.Arg150Gly) n.931A>G n.905A>G c.277A>G (p.Arg93Gly) n.890A>G n.748A>G | |
21 | g.36936997T>G | CA512325817 | HLCS | c.889A>C (p.Arg297=) c.448A>C (p.Arg150=) n.931A>C n.905A>C c.277A>C (p.Arg93=) n.890A>C n.748A>C | |
21 | g.36936998T>A | CA409913017 | HLCS | c.888A>T (p.Glu296Asp) c.447A>T (p.Glu149Asp) n.930A>T n.904A>T c.276A>T (p.Glu92Asp) n.889A>T n.747A>T | |
21 | g.36936998T>C | CA512325818 | HLCS | c.888A>G (p.Glu296=) c.447A>G (p.Glu149=) n.930A>G n.904A>G c.276A>G (p.Glu92=) n.889A>G n.747A>G | |
21 | g.36936998T>G | CA409913018 | HLCS | c.888A>C (p.Glu296Asp) c.447A>C (p.Glu149Asp) n.930A>C n.904A>C c.276A>C (p.Glu92Asp) n.889A>C n.747A>C | |
21 | g.36936999T>A | CA409913020 | HLCS | c.887A>T (p.Glu296Val) c.446A>T (p.Glu149Val) n.929A>T n.903A>T c.275A>T (p.Glu92Val) n.888A>T n.746A>T | |
21 | g.36936999T>C | CA409913021 | HLCS | c.887A>G (p.Glu296Gly) c.446A>G (p.Glu149Gly) n.929A>G n.903A>G c.275A>G (p.Glu92Gly) n.888A>G n.746A>G | |
21 | g.36936999T>G | CA409913019 | HLCS | c.887A>C (p.Glu296Ala) c.446A>C (p.Glu149Ala) n.929A>C n.903A>C c.275A>C (p.Glu92Ala) n.888A>C n.746A>C | |
21 | g.36937000C>A | CA409913023 | HLCS | c.886G>T (p.Glu296Ter) c.445G>T (p.Glu149Ter) n.928G>T n.902G>T c.274G>T (p.Glu92Ter) n.887G>T n.745G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.36937000C= | CA2388237034 | HLCS | c.886G= (p.Glu296=) c.445G= (p.Glu149=) n.928G= n.902G= c.274G= (p.Glu92=) n.887G= n.745G= | |
21 | g.36937000C>G | CA409913022 | HLCS | c.886G>C (p.Glu296Gln) c.445G>C (p.Glu149Gln) n.928G>C n.902G>C c.274G>C (p.Glu92Gln) n.887G>C n.745G>C | |
21 | g.36937000C>T | CA10020682 | HLCS | c.886G>A (p.Glu296Lys) c.445G>A (p.Glu149Lys) n.928G>A n.902G>A c.274G>A (p.Glu92Lys) n.887G>A n.745G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36937001G>A | CA10020683 | HLCS | c.885C>T (p.Pro295=) c.444C>T (p.Pro148=) n.927C>T n.901C>T c.273C>T (p.Pro91=) n.886C>T n.744C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36937001G>C | CA512325823 | HLCS | c.885C>G (p.Pro295=) c.444C>G (p.Pro148=) n.927C>G n.901C>G c.273C>G (p.Pro91=) n.886C>G n.744C>G | |
21 | g.36937001G= | CA2388237035 | HLCS | c.885C= (p.Pro295=) c.444C= (p.Pro148=) n.927C= n.901C= c.273C= (p.Pro91=) n.886C= n.744C= | |
21 | g.36937001G>T | CA512325824 | HLCS | c.885C>A (p.Pro295=) c.444C>A (p.Pro148=) n.927C>A n.901C>A c.273C>A (p.Pro91=) n.886C>A n.744C>A | dbSNP |
21 | g.36937005dup | CA2654438666 | HLCS | c.885dup (p.Glu296ArgfsTer?) c.444dup (p.Glu149ArgfsTer?) n.927dup n.901dup c.273dup (p.Glu92ArgfsTer?) n.886dup n.744dup | gnomAD v4 |
21 | g.36937002G>A | CA409913024 | HLCS | c.884C>T (p.Pro295Leu) c.443C>T (p.Pro148Leu) n.926C>T n.900C>T c.272C>T (p.Pro91Leu) n.885C>T n.743C>T | |
21 | g.36937002G>C | CA409913025 | HLCS | c.884C>G (p.Pro295Arg) c.443C>G (p.Pro148Arg) n.926C>G n.900C>G c.272C>G (p.Pro91Arg) n.885C>G n.743C>G | |
21 | g.36937002G>T | CA409913026 | HLCS | c.884C>A (p.Pro295His) c.443C>A (p.Pro148His) n.926C>A n.900C>A c.272C>A (p.Pro91His) n.885C>A n.743C>A | |
21 | g.36937003G>A | CA409913029 | HLCS | c.883C>T (p.Pro295Ser) c.442C>T (p.Pro148Ser) n.925C>T n.899C>T c.271C>T (p.Pro91Ser) n.884C>T n.742C>T | dbSNP gnomAD v3 gnomAD v4 |
21 | g.36937003G>C | CA409913028 | HLCS | c.883C>G (p.Pro295Ala) c.442C>G (p.Pro148Ala) n.925C>G n.899C>G c.271C>G (p.Pro91Ala) n.884C>G n.742C>G | |
21 | g.36937003G= | CA2388237036 | HLCS | c.883C= (p.Pro295=) c.442C= (p.Pro148=) n.925C= n.899C= c.271C= (p.Pro91=) n.884C= n.742C= | |
21 | g.36937003G>T | CA409913027 | HLCS | c.883C>A (p.Pro295Thr) c.442C>A (p.Pro148Thr) n.925C>A n.899C>A c.271C>A (p.Pro91Thr) n.884C>A n.742C>A | |
21 | g.36937004G>A | CA512325829 | HLCS | c.882C>T (p.Ser294=) c.441C>T (p.Ser147=) n.924C>T n.898C>T c.270C>T (p.Ser90=) n.883C>T n.741C>T | ClinVar |
21 | g.36937004G>C | CA512325830 | HLCS | c.882C>G (p.Ser294=) c.441C>G (p.Ser147=) n.924C>G n.898C>G c.270C>G (p.Ser90=) n.883C>G n.741C>G | |
21 | g.36937004G>T | CA512325831 | HLCS | c.882C>A (p.Ser294=) c.441C>A (p.Ser147=) n.924C>A n.898C>A c.270C>A (p.Ser90=) n.883C>A n.741C>A | |
21 | g.36937005G>A | CA409913030 | HLCS | c.881C>T (p.Ser294Phe) c.440C>T (p.Ser147Phe) n.923C>T n.897C>T c.269C>T (p.Ser90Phe) n.882C>T n.740C>T | |
21 | g.36937005G>C | CA409913031 | HLCS | c.881C>G (p.Ser294Cys) c.440C>G (p.Ser147Cys) n.923C>G n.897C>G c.269C>G (p.Ser90Cys) n.882C>G n.740C>G | |
21 | g.36937005G>T | CA409913032 | HLCS | c.881C>A (p.Ser294Tyr) c.440C>A (p.Ser147Tyr) n.923C>A n.897C>A c.269C>A (p.Ser90Tyr) n.882C>A n.740C>A | |
21 | g.36937006A>C | CA409913033 | HLCS | c.880T>G (p.Ser294Ala) c.439T>G (p.Ser147Ala) n.922T>G n.896T>G c.268T>G (p.Ser90Ala) n.881T>G n.739T>G | |
21 | g.36937006A>G | CA409913034 | HLCS | c.880T>C (p.Ser294Pro) c.439T>C (p.Ser147Pro) n.922T>C n.896T>C c.268T>C (p.Ser90Pro) n.881T>C n.739T>C | |
21 | g.36937006A>T | CA409913035 | HLCS | c.880T>A (p.Ser294Thr) c.439T>A (p.Ser147Thr) n.922T>A n.896T>A c.268T>A (p.Ser90Thr) n.881T>A n.739T>A | |
21 | g.36937007G>A | CA512325834 | HLCS | c.879C>T (p.Thr293=) c.438C>T (p.Thr146=) n.921C>T n.895C>T c.267C>T (p.Thr89=) n.880C>T n.738C>T | ClinVar |
21 | g.36937007G>C | CA512325832 | HLCS | c.879C>G (p.Thr293=) c.438C>G (p.Thr146=) n.921C>G n.895C>G c.267C>G (p.Thr89=) n.880C>G n.738C>G | |
21 | g.36937007G>T | CA512325833 | HLCS | c.879C>A (p.Thr293=) c.438C>A (p.Thr146=) n.921C>A n.895C>A c.267C>A (p.Thr89=) n.880C>A n.738C>A | |
21 | g.36937008G>A | CA10020684 | HLCS | c.878C>T (p.Thr293Ile) c.437C>T (p.Thr146Ile) n.920C>T n.894C>T c.266C>T (p.Thr89Ile) n.879C>T n.737C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.36937008G>C | CA409913036 | HLCS | c.878C>G (p.Thr293Ser) c.437C>G (p.Thr146Ser) n.920C>G n.894C>G c.266C>G (p.Thr89Ser) n.879C>G n.737C>G | |
21 | g.36937008G= | CA2388237037 | HLCS | c.878C= (p.Thr293=) c.437C= (p.Thr146=) n.920C= n.894C= c.266C= (p.Thr89=) n.879C= n.737C= | |
21 | g.36937008G>T | CA409913037 | HLCS | c.878C>A (p.Thr293Asn) c.437C>A (p.Thr146Asn) n.920C>A n.894C>A c.266C>A (p.Thr89Asn) n.879C>A n.737C>A | gnomAD v4 |
21 | g.36937009T>A | CA409913038 | HLCS | c.877A>T (p.Thr293Ser) c.436A>T (p.Thr146Ser) n.919A>T n.893A>T c.265A>T (p.Thr89Ser) n.878A>T n.736A>T | |
21 | g.36937009T>C | CA409913039 | HLCS | c.877A>G (p.Thr293Ala) c.436A>G (p.Thr146Ala) n.919A>G n.893A>G c.265A>G (p.Thr89Ala) n.878A>G n.736A>G | |
21 | g.36937009T>G | CA409913040 | HLCS | c.877A>C (p.Thr293Pro) c.436A>C (p.Thr146Pro) n.919A>C n.893A>C c.265A>C (p.Thr89Pro) n.878A>C n.736A>C | |
21 | g.36937011_36937012del | CA2543073141 | HLCS | c.876_877del (p.Glu292AspfsTer?) c.435_436del (p.Glu145AspfsTer?) n.918_919del n.892_893del c.264_265del (p.Glu88AspfsTer?) n.877_878del n.735_736del | |
21 | g.36937010C>A | CA409913041 | HLCS | c.876G>T (p.Glu292Asp) c.435G>T (p.Glu145Asp) n.918G>T n.892G>T c.264G>T (p.Glu88Asp) n.877G>T n.735G>T | |
21 | g.36937010C= | CA2388237038 | HLCS | c.876G= (p.Glu292=) c.435G= (p.Glu145=) n.918G= n.892G= c.264G= (p.Glu88=) n.877G= n.735G= | |
21 | g.36937010C>G | CA409913042 | HLCS | c.876G>C (p.Glu292Asp) c.435G>C (p.Glu145Asp) n.918G>C n.892G>C c.264G>C (p.Glu88Asp) n.877G>C n.735G>C | |
21 | g.36937010C>T | CA512325839 | HLCS | c.876G>A (p.Glu292=) c.435G>A (p.Glu145=) n.918G>A n.892G>A c.264G>A (p.Glu88=) n.877G>A n.735G>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.36937011T>A | CA409913043 | HLCS | c.875A>T (p.Glu292Val) c.434A>T (p.Glu145Val) n.917A>T n.891A>T c.263A>T (p.Glu88Val) n.876A>T n.734A>T | |
21 | g.36937011T>C | CA409913044 | HLCS | c.875A>G (p.Glu292Gly) c.434A>G (p.Glu145Gly) n.917A>G n.891A>G c.263A>G (p.Glu88Gly) n.876A>G n.734A>G | |
21 | g.36937011T>G | CA409913045 | HLCS | c.875A>C (p.Glu292Ala) c.434A>C (p.Glu145Ala) n.917A>C n.891A>C c.263A>C (p.Glu88Ala) n.876A>C n.734A>C | |
21 | g.36937012C>A | CA409913046 | HLCS | c.874G>T (p.Glu292Ter) c.433G>T (p.Glu145Ter) n.916G>T n.890G>T c.262G>T (p.Glu88Ter) n.875G>T n.733G>T | |
21 | g.36937012C>G | CA409913047 | HLCS | c.874G>C (p.Glu292Gln) c.433G>C (p.Glu145Gln) n.916G>C n.890G>C c.262G>C (p.Glu88Gln) n.875G>C n.733G>C | |
21 | g.36937012C>T | CA409913048 | HLCS | c.874G>A (p.Glu292Lys) c.433G>A (p.Glu145Lys) n.916G>A n.890G>A c.262G>A (p.Glu88Lys) n.875G>A n.733G>A | |
21 | g.36937013A>C | CA409913049 | HLCS | c.873T>G (p.Asp291Glu) c.432T>G (p.Asp144Glu) n.915T>G n.889T>G c.261T>G (p.Asp87Glu) n.874T>G n.732T>G | gnomAD v4 |
21 | g.36937013A>G | CA512325845 | HLCS | c.873T>C (p.Asp291=) c.432T>C (p.Asp144=) n.915T>C n.889T>C c.261T>C (p.Asp87=) n.874T>C n.732T>C | ClinVar |
21 | g.36937013A>T | CA409913050 | HLCS | c.873T>A (p.Asp291Glu) c.432T>A (p.Asp144Glu) n.915T>A n.889T>A c.261T>A (p.Asp87Glu) n.874T>A n.732T>A | |
21 | g.36937014T>A | CA409913053 | HLCS | c.872A>T (p.Asp291Val) c.431A>T (p.Asp144Val) n.914A>T n.888A>T c.260A>T (p.Asp87Val) n.873A>T n.731A>T | |
21 | g.36937014T>C | CA409913051 | HLCS | c.872A>G (p.Asp291Gly) c.431A>G (p.Asp144Gly) n.914A>G n.888A>G c.260A>G (p.Asp87Gly) n.873A>G n.731A>G | |
21 | g.36937014T>G | CA409913052 | HLCS | c.872A>C (p.Asp291Ala) c.431A>C (p.Asp144Ala) n.914A>C n.888A>C c.260A>C (p.Asp87Ala) n.873A>C n.731A>C | |
21 | g.36937014_36937017delinsTCAG | CA2388237039 | HLCS | c.869_872delinsCTGA (p.Ala290=) c.428_431delinsCTGA (p.Ala143=) n.911_914delinsCTGA n.885_888delinsCTGA c.257_260delinsCTGA (p.Ala86=) n.870_873delinsCTGA n.728_731delinsCTGA | |
21 | g.36937015C>A | CA409913054 | HLCS | c.871G>T (p.Asp291Tyr) c.430G>T (p.Asp144Tyr) n.913G>T n.887G>T c.259G>T (p.Asp87Tyr) n.872G>T n.730G>T | |
21 | g.36937015C>G | CA409913055 | HLCS | c.871G>C (p.Asp291His) c.430G>C (p.Asp144His) n.913G>C n.887G>C c.259G>C (p.Asp87His) n.872G>C n.730G>C | |
21 | g.36937015C>T | CA409913056 | HLCS | c.871G>A (p.Asp291Asn) c.430G>A (p.Asp144Asn) n.913G>A n.887G>A c.259G>A (p.Asp87Asn) n.872G>A n.730G>A | |
21 | g.36937017_36937019del | CA10020685 | HLCS | c.869_871del (p.Ala290del) c.428_430del (p.Ala143del) n.911_913del n.885_887del c.257_259del (p.Ala86del) n.870_872del n.728_730del | dbSNP ExAC gnomAD v2 |
21 | g.36937016A>C | CA512325851 | HLCS | c.870T>G (p.Ala290=) c.429T>G (p.Ala143=) n.912T>G n.886T>G c.258T>G (p.Ala86=) n.871T>G n.729T>G | |
21 | g.36937016A>G | CA512325847 | HLCS | c.870T>C (p.Ala290=) c.429T>C (p.Ala143=) n.912T>C n.886T>C c.258T>C (p.Ala86=) n.871T>C n.729T>C | |
21 | g.36937016A>T | CA512325848 | HLCS | c.870T>A (p.Ala290=) c.429T>A (p.Ala143=) n.912T>A n.886T>A c.258T>A (p.Ala86=) n.871T>A n.729T>A | |
21 | g.36937017G>A | CA409913057 | HLCS | c.869C>T (p.Ala290Val) c.428C>T (p.Ala143Val) n.911C>T n.885C>T c.257C>T (p.Ala86Val) n.870C>T n.728C>T | |
21 | g.36937017G>C | CA409913058 | HLCS | c.869C>G (p.Ala290Gly) c.428C>G (p.Ala143Gly) n.911C>G n.885C>G c.257C>G (p.Ala86Gly) n.870C>G n.728C>G | gnomAD v4 |
21 | g.36937017G>T | CA409913059 | HLCS | c.869C>A (p.Ala290Asp) c.428C>A (p.Ala143Asp) n.911C>A n.885C>A c.257C>A (p.Ala86Asp) n.870C>A n.728C>A | dbSNP |
21 | g.36937018C>A | CA409913060 | HLCS | c.868G>T (p.Ala290Ser) c.427G>T (p.Ala143Ser) n.910G>T n.884G>T c.256G>T (p.Ala86Ser) n.869G>T n.727G>T | |
21 | g.36937018C= | CA2388237040 | HLCS | c.868G= (p.Ala290=) c.427G= (p.Ala143=) n.910G= n.884G= c.256G= (p.Ala86=) n.869G= n.727G= | |
21 | g.36937018C>G | CA409913061 | HLCS | c.868G>C (p.Ala290Pro) c.427G>C (p.Ala143Pro) n.910G>C n.884G>C c.256G>C (p.Ala86Pro) n.869G>C n.727G>C | |
21 | g.36937018C>T | CA409913062 | HLCS | c.868G>A (p.Ala290Thr) c.427G>A (p.Ala143Thr) n.910G>A n.884G>A c.256G>A (p.Ala86Thr) n.869G>A n.727G>A | dbSNP |
21 | g.36937019A= | CA2388237041 | HLCS | c.867T= (p.Val289=) c.426T= (p.Val142=) n.909T= n.883T= c.255T= (p.Val85=) n.868T= n.726T= | |
21 | g.36937019A>C | CA512325855 | HLCS | c.867T>G (p.Val289=) c.426T>G (p.Val142=) n.909T>G n.883T>G c.255T>G (p.Val85=) n.868T>G n.726T>G | dbSNP gnomAD v2 |
21 | g.36937019A>G | CA512325856 | HLCS | c.867T>C (p.Val289=) c.426T>C (p.Val142=) n.909T>C n.883T>C c.255T>C (p.Val85=) n.868T>C n.726T>C | |
21 | g.36937019A>T | CA512325857 | HLCS | c.867T>A (p.Val289=) c.426T>A (p.Val142=) n.909T>A n.883T>A c.255T>A (p.Val85=) n.868T>A n.726T>A | |
21 | g.36937020A= | CA2388237042 | HLCS | c.866T= (p.Val289=) c.425T= (p.Val142=) n.908T= n.882T= c.254T= (p.Val85=) n.867T= n.725T= | |
21 | g.36937020A>C | CA409913063 | HLCS | c.866T>G (p.Val289Gly) c.425T>G (p.Val142Gly) n.908T>G n.882T>G c.254T>G (p.Val85Gly) n.867T>G n.725T>G | dbSNP |
21 | g.36937020A>G | CA409913064 | HLCS | c.866T>C (p.Val289Ala) c.425T>C (p.Val142Ala) n.908T>C n.882T>C c.254T>C (p.Val85Ala) n.867T>C n.725T>C | |
21 | g.36937020A>T | CA409913065 | HLCS | c.866T>A (p.Val289Asp) c.425T>A (p.Val142Asp) n.908T>A n.882T>A c.254T>A (p.Val85Asp) n.867T>A n.725T>A | |
21 | g.36937021C>A | CA409913067 | HLCS | c.865G>T (p.Val289Phe) c.424G>T (p.Val142Phe) n.907G>T n.881G>T c.253G>T (p.Val85Phe) n.866G>T n.724G>T | |
21 | g.36937021C= | CA2388237043 | HLCS | c.865G= (p.Val289=) c.424G= (p.Val142=) n.907G= n.881G= c.253G= (p.Val85=) n.866G= n.724G= | |
21 | g.36937021C>G | CA409913066 | HLCS | c.865G>C (p.Val289Leu) c.424G>C (p.Val142Leu) n.907G>C n.881G>C c.253G>C (p.Val85Leu) n.866G>C n.724G>C | |
21 | g.36937021C>T | CA10020686 | HLCS | c.865G>A (p.Val289Ile) c.424G>A (p.Val142Ile) n.907G>A n.881G>A c.253G>A (p.Val85Ile) n.866G>A n.724G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36937022A>C | CA409913068 | HLCS | c.864T>G (p.Ser288Arg) c.423T>G (p.Ser141Arg) n.906T>G n.880T>G c.252T>G (p.Ser84Arg) n.865T>G n.723T>G | |
21 | g.36937022A>G | CA512325859 | HLCS | c.864T>C (p.Ser288=) c.423T>C (p.Ser141=) n.906T>C n.880T>C c.252T>C (p.Ser84=) n.865T>C n.723T>C | |
21 | g.36937022A>T | CA409913069 | HLCS | c.864T>A (p.Ser288Arg) c.423T>A (p.Ser141Arg) n.906T>A n.880T>A c.252T>A (p.Ser84Arg) n.865T>A n.723T>A | |
21 | g.36937022_36937023delinsAC | CA2388237044 | HLCS | c.863_864delinsGT (p.Ser288=) c.422_423delinsGT (p.Ser141=) n.905_906delinsGT n.879_880delinsGT c.251_252delinsGT (p.Ser84=) n.864_865delinsGT n.722_723delinsGT | |
21 | g.36937022_36937024delinsACT | CA2388237045 | HLCS | c.862_864delinsAGT (p.Ser288=) c.421_423delinsAGT (p.Ser141=) n.904_906delinsAGT n.878_880delinsAGT c.250_252delinsAGT (p.Ser84=) n.863_865delinsAGT n.721_723delinsAGT | |
21 | g.36937023del | CA320395721 | HLCS | c.863del (p.Ser288MetfsTer?) c.422del (p.Ser141MetfsTer?) n.905del n.879del c.251del (p.Ser84MetfsTer?) n.864del n.722del | ClinVar dbSNP |
21 | g.36937023C>A | CA409913070 | HLCS | c.863G>T (p.Ser288Ile) c.422G>T (p.Ser141Ile) n.905G>T n.879G>T c.251G>T (p.Ser84Ile) n.864G>T n.722G>T | |
21 | g.36937023C= | CA2388237047 | HLCS | c.863G= (p.Ser288=) c.422G= (p.Ser141=) n.905G= n.879G= c.251G= (p.Ser84=) n.864G= n.722G= | |
21 | g.36937023C>G | CA320395727 | HLCS | c.863G>C (p.Ser288Thr) c.422G>C (p.Ser141Thr) n.905G>C n.879G>C c.251G>C (p.Ser84Thr) n.864G>C n.722G>C | dbSNP |
21 | g.36937023C>T | CA409913071 | HLCS | c.863G>A (p.Ser288Asn) c.422G>A (p.Ser141Asn) n.905G>A n.879G>A c.251G>A (p.Ser84Asn) n.864G>A n.722G>A | dbSNP gnomAD v2 gnomAD v4 |
21 | g.36937026_36937027del | CA2388237046 | HLCS | c.862_863del (p.Ser288CysfsTer3) c.421_422del (p.Ser141CysfsTer3) n.904_905del n.878_879del c.250_251del (p.Ser84CysfsTer3) n.863_864del n.721_722del | dbSNP |
21 | g.36937024T>A | CA409913072 | HLCS | c.862A>T (p.Ser288Cys) c.421A>T (p.Ser141Cys) n.904A>T n.878A>T c.250A>T (p.Ser84Cys) n.863A>T n.721A>T | |
21 | g.36937024T>C | CA409913073 | HLCS | c.862A>G (p.Ser288Gly) c.421A>G (p.Ser141Gly) n.904A>G n.878A>G c.250A>G (p.Ser84Gly) n.863A>G n.721A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36937024T>G | CA409913074 | HLCS | c.862A>C (p.Ser288Arg) c.421A>C (p.Ser141Arg) n.904A>C n.878A>C c.250A>C (p.Ser84Arg) n.863A>C n.721A>C | gnomAD v4 |
21 | g.36937024T= | CA2388237048 | HLCS | c.862A= (p.Ser288=) c.421A= (p.Ser141=) n.904A= n.878A= c.250A= (p.Ser84=) n.863A= n.721A= | |
21 | g.36937025C>A | CA409913075 | HLCS | c.861G>T (p.Glu287Asp) c.420G>T (p.Glu140Asp) n.903G>T n.877G>T c.249G>T (p.Glu83Asp) n.862G>T n.720G>T | |
21 | g.36937025C= | CA2388237049 | HLCS | c.861G= (p.Glu287=) c.420G= (p.Glu140=) n.903G= n.877G= c.249G= (p.Glu83=) n.862G= n.720G= | |
21 | g.36937025C>G | CA409913076 | HLCS | c.861G>C (p.Glu287Asp) c.420G>C (p.Glu140Asp) n.903G>C n.877G>C c.249G>C (p.Glu83Asp) n.862G>C n.720G>C | gnomAD v4 |
21 | g.36937025C>T | CA512325863 | HLCS | c.861G>A (p.Glu287=) c.420G>A (p.Glu140=) n.903G>A n.877G>A c.249G>A (p.Glu83=) n.862G>A n.720G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.36937026T>A | CA409913077 | HLCS | c.860A>T (p.Glu287Val) c.419A>T (p.Glu140Val) n.902A>T n.876A>T c.248A>T (p.Glu83Val) n.861A>T n.719A>T | |
21 | g.36937026T>C | CA409913078 | HLCS | c.860A>G (p.Glu287Gly) c.419A>G (p.Glu140Gly) n.902A>G n.876A>G c.248A>G (p.Glu83Gly) n.861A>G n.719A>G | |
21 | g.36937026T>G | CA409913079 | HLCS | c.860A>C (p.Glu287Ala) c.419A>C (p.Glu140Ala) n.902A>C n.876A>C c.248A>C (p.Glu83Ala) n.861A>C n.719A>C | |
21 | g.36937027C>A | CA409913081 | HLCS | c.859G>T (p.Glu287Ter) c.418G>T (p.Glu140Ter) n.901G>T n.875G>T c.247G>T (p.Glu83Ter) n.860G>T n.718G>T | |
21 | g.36937027C>G | CA409913082 | HLCS | c.859G>C (p.Glu287Gln) c.418G>C (p.Glu140Gln) n.901G>C n.875G>C c.247G>C (p.Glu83Gln) n.860G>C n.718G>C | |
21 | g.36937027C>T | CA409913080 | HLCS | c.859G>A (p.Glu287Lys) c.418G>A (p.Glu140Lys) n.901G>A n.875G>A c.247G>A (p.Glu83Lys) n.860G>A n.718G>A | |
21 | g.36937028C>A | CA409913083 | HLCS | c.858G>T (p.Leu286Phe) c.417G>T (p.Leu139Phe) n.900G>T n.874G>T c.246G>T (p.Leu82Phe) n.859G>T n.717G>T | |
21 | g.36937028C>G | CA409913084 | HLCS | c.858G>C (p.Leu286Phe) c.417G>C (p.Leu139Phe) n.900G>C n.874G>C c.246G>C (p.Leu82Phe) n.859G>C n.717G>C | |
21 | g.36937028C>T | CA512325865 | HLCS | c.858G>A (p.Leu286=) c.417G>A (p.Leu139=) n.900G>A n.874G>A c.246G>A (p.Leu82=) n.859G>A n.717G>A | |
21 | g.36937029A= | CA2388237050 | HLCS | c.857T= (p.Leu286=) c.416T= (p.Leu139=) n.899T= n.873T= c.245T= (p.Leu82=) n.858T= n.716T= | |
21 | g.36937029A>C | CA409913085 | HLCS | c.857T>G (p.Leu286Trp) c.416T>G (p.Leu139Trp) n.899T>G n.873T>G c.245T>G (p.Leu82Trp) n.858T>G n.716T>G | gnomAD v4 |
21 | g.36937029A>G | CA409913086 | HLCS | c.857T>C (p.Leu286Ser) c.416T>C (p.Leu139Ser) n.899T>C n.873T>C c.245T>C (p.Leu82Ser) n.858T>C n.716T>C | |
21 | g.36937029A>T | CA10020687 | HLCS | c.857T>A (p.Leu286Ter) c.416T>A (p.Leu139Ter) n.899T>A n.873T>A c.245T>A (p.Leu82Ter) n.858T>A n.716T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.36937031del | CA2695201450 | HLCS | c.857del (p.Leu286TrpfsTer?) c.416del (p.Leu139TrpfsTer?) n.899del n.873del c.245del (p.Leu82TrpfsTer?) n.858del n.716del | ClinVar |
21 | g.36937030A= | CA2388237051 | HLCS | c.856T= (p.Leu286=) c.415T= (p.Leu139=) n.898T= n.872T= c.244T= (p.Leu82=) n.857T= n.715T= | |
21 | g.36937030A>C | CA409913087 | HLCS | c.856T>G (p.Leu286Val) c.415T>G (p.Leu139Val) n.898T>G n.872T>G c.244T>G (p.Leu82Val) n.857T>G n.715T>G | |
21 | g.36937030A>G | CA512325869 | HLCS | c.856T>C (p.Leu286=) c.415T>C (p.Leu139=) n.898T>C n.872T>C c.244T>C (p.Leu82=) n.857T>C n.715T>C | gnomAD v4 |
21 | g.36937030A>T | CA10020688 | HLCS | c.856T>A (p.Leu286Met) c.415T>A (p.Leu139Met) n.898T>A n.872T>A c.244T>A (p.Leu82Met) n.857T>A n.715T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
21 | g.36937031A>C | CA409913088 | HLCS | c.855T>G (p.Ser285Arg) c.414T>G (p.Ser138Arg) n.897T>G n.871T>G c.243T>G (p.Ser81Arg) n.856T>G n.714T>G | |
21 | g.36937031A>G | CA512325871 | HLCS | c.855T>C (p.Ser285=) c.414T>C (p.Ser138=) n.897T>C n.871T>C c.243T>C (p.Ser81=) n.856T>C n.714T>C | |
21 | g.36937031A>T | CA409913089 | HLCS | c.855T>A (p.Ser285Arg) c.414T>A (p.Ser138Arg) n.897T>A n.871T>A c.243T>A (p.Ser81Arg) n.856T>A n.714T>A | |
21 | g.36937032C>A | CA409913090 | HLCS | c.854G>T (p.Ser285Ile) c.413G>T (p.Ser138Ile) n.896G>T n.870G>T c.242G>T (p.Ser81Ile) n.855G>T n.713G>T | |
21 | g.36937032C= | CA2388237052 | HLCS | c.854G= (p.Ser285=) c.413G= (p.Ser138=) n.896G= n.870G= c.242G= (p.Ser81=) n.855G= n.713G= | |
21 | g.36937032C>G | CA409913091 | HLCS | c.854G>C (p.Ser285Thr) c.413G>C (p.Ser138Thr) n.896G>C n.870G>C c.242G>C (p.Ser81Thr) n.855G>C n.713G>C | |
21 | g.36937032C>T | CA10020689 | HLCS | c.854G>A (p.Ser285Asn) c.413G>A (p.Ser138Asn) n.896G>A n.870G>A c.242G>A (p.Ser81Asn) n.855G>A n.713G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36937033T>A | CA409913092 | HLCS | c.853A>T (p.Ser285Cys) c.412A>T (p.Ser138Cys) n.895A>T n.869A>T c.241A>T (p.Ser81Cys) n.854A>T n.712A>T | |
21 | g.36937033T>C | CA10020690 | HLCS | c.853A>G (p.Ser285Gly) c.412A>G (p.Ser138Gly) n.895A>G n.869A>G c.241A>G (p.Ser81Gly) n.854A>G n.712A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
21 | g.36937033T>G | CA409913093 | HLCS | c.853A>C (p.Ser285Arg) c.412A>C (p.Ser138Arg) n.895A>C n.869A>C c.241A>C (p.Ser81Arg) n.854A>C n.712A>C | |
21 | g.36937033T= | CA2388237053 | HLCS | c.853A= (p.Ser285=) c.412A= (p.Ser138=) n.895A= n.869A= c.241A= (p.Ser81=) n.854A= n.712A= | |
21 | g.36937034G>A | CA512325873 | HLCS | c.852C>T (p.Ser284=) c.411C>T (p.Ser137=) n.894C>T n.868C>T c.240C>T (p.Ser80=) n.853C>T n.711C>T | |
21 | g.36937034G>C | CA409913094 | HLCS | c.852C>G (p.Ser284Arg) c.411C>G (p.Ser137Arg) n.894C>G n.868C>G c.240C>G (p.Ser80Arg) n.853C>G n.711C>G | |
21 | g.36937034G>T | CA409913095 | HLCS | c.852C>A (p.Ser284Arg) c.411C>A (p.Ser137Arg) n.894C>A n.868C>A c.240C>A (p.Ser80Arg) n.853C>A n.711C>A | |
21 | g.36937035C>A | CA409913096 | HLCS | c.851G>T (p.Ser284Ile) c.410G>T (p.Ser137Ile) n.893G>T n.867G>T c.239G>T (p.Ser80Ile) n.852G>T n.710G>T | |
21 | g.36937035C>G | CA409913097 | HLCS | c.851G>C (p.Ser284Thr) c.410G>C (p.Ser137Thr) n.893G>C n.867G>C c.239G>C (p.Ser80Thr) n.852G>C n.710G>C | |
21 | g.36937035C>T | CA409913098 | HLCS | c.851G>A (p.Ser284Asn) c.410G>A (p.Ser137Asn) n.893G>A n.867G>A c.239G>A (p.Ser80Asn) n.852G>A n.710G>A | |
21 | g.36937036T>A | CA409913099 | HLCS | c.850A>T (p.Ser284Cys) c.409A>T (p.Ser137Cys) n.892A>T n.866A>T c.238A>T (p.Ser80Cys) n.851A>T n.709A>T | |
21 | g.36937036T>C | CA409913100 | HLCS | c.850A>G (p.Ser284Gly) c.409A>G (p.Ser137Gly) n.892A>G n.866A>G c.238A>G (p.Ser80Gly) n.851A>G n.709A>G | gnomAD v4 |
21 | g.36937036T>G | CA409913101 | HLCS | c.850A>C (p.Ser284Arg) c.409A>C (p.Ser137Arg) n.892A>C n.866A>C c.238A>C (p.Ser80Arg) n.851A>C n.709A>C |