Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48756338T>A | CA392343155 | CEP152 | c.2910A>T (p.Arg970Ser) c.2631A>T (p.Arg877Ser) c.951A>T (p.Arg317Ser) c.945A>T (p.Arg315Ser) n.3875A>T n.3861A>T | gnomAD v4 |
15 | g.48756338T>C | CA490311327 | CEP152 | c.2910A>G (p.Arg970=) c.2631A>G (p.Arg877=) c.951A>G (p.Arg317=) c.945A>G (p.Arg315=) n.3875A>G n.3861A>G | |
15 | g.48756338T>G | CA392343156 | CEP152 | c.2910A>C (p.Arg970Ser) c.2631A>C (p.Arg877Ser) c.951A>C (p.Arg317Ser) c.945A>C (p.Arg315Ser) n.3875A>C n.3861A>C | |
15 | g.48756339C>A | CA392343157 | CEP152 | c.2909G>T (p.Arg970Ile) c.2630G>T (p.Arg877Ile) c.950G>T (p.Arg317Ile) c.944G>T (p.Arg315Ile) n.3874G>T n.3860G>T | |
15 | g.48756339C>G | CA392343159 | CEP152 | c.2909G>C (p.Arg970Thr) c.2630G>C (p.Arg877Thr) c.950G>C (p.Arg317Thr) c.944G>C (p.Arg315Thr) n.3874G>C n.3860G>C | |
15 | g.48756339C>T | CA392343158 | CEP152 | c.2909G>A (p.Arg970Lys) c.2630G>A (p.Arg877Lys) c.950G>A (p.Arg317Lys) c.944G>A (p.Arg315Lys) n.3874G>A n.3860G>A | |
15 | g.48756340T>A | CA392343160 | CEP152 | c.2908A>T (p.Arg970Ter) c.2629A>T (p.Arg877Ter) c.949A>T (p.Arg317Ter) c.943A>T (p.Arg315Ter) n.3873A>T n.3859A>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756340T>C | CA392343161 | CEP152 | c.2908A>G (p.Arg970Gly) c.2629A>G (p.Arg877Gly) c.949A>G (p.Arg317Gly) c.943A>G (p.Arg315Gly) n.3873A>G n.3859A>G | |
15 | g.48756340T>G | CA490311328 | CEP152 | c.2908A>C (p.Arg970=) c.2629A>C (p.Arg877=) c.949A>C (p.Arg317=) c.943A>C (p.Arg315=) n.3873A>C n.3859A>C | |
15 | g.48756340T= | CA2175629088 | CEP152 | c.2908A= (p.Arg970=) c.2629A= (p.Arg877=) c.949A= (p.Arg317=) c.943A= (p.Arg315=) n.3873A= n.3859A= | |
15 | g.48756341G>A | CA490311329 | CEP152 | c.2907C>T (p.His969=) c.2628C>T (p.His876=) c.948C>T (p.His316=) c.942C>T (p.His314=) n.3872C>T n.3858C>T | |
15 | g.48756341G>C | CA392343162 | CEP152 | c.2907C>G (p.His969Gln) c.2628C>G (p.His876Gln) c.948C>G (p.His316Gln) c.942C>G (p.His314Gln) n.3872C>G n.3858C>G | |
15 | g.48756341G>T | CA392343163 | CEP152 | c.2907C>A (p.His969Gln) c.2628C>A (p.His876Gln) c.948C>A (p.His316Gln) c.942C>A (p.His314Gln) n.3872C>A n.3858C>A | |
15 | g.48756342T>A | CA392343164 | CEP152 | c.2906A>T (p.His969Leu) c.2627A>T (p.His876Leu) c.947A>T (p.His316Leu) c.941A>T (p.His314Leu) n.3871A>T n.3857A>T | |
15 | g.48756342T>C | CA392343165 | CEP152 | c.2906A>G (p.His969Arg) c.2627A>G (p.His876Arg) c.947A>G (p.His316Arg) c.941A>G (p.His314Arg) n.3871A>G n.3857A>G | |
15 | g.48756342T>G | CA392343166 | CEP152 | c.2906A>C (p.His969Pro) c.2627A>C (p.His876Pro) c.947A>C (p.His316Pro) c.941A>C (p.His314Pro) n.3871A>C n.3857A>C | |
15 | g.48756343G>A | CA7548448 | CEP152 | c.2905C>T (p.His969Tyr) c.2626C>T (p.His876Tyr) c.946C>T (p.His316Tyr) c.940C>T (p.His314Tyr) n.3870C>T n.3856C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756343G>C | CA392343167 | CEP152 | c.2905C>G (p.His969Asp) c.2626C>G (p.His876Asp) c.946C>G (p.His316Asp) c.940C>G (p.His314Asp) n.3870C>G n.3856C>G | |
15 | g.48756343G= | CA2175629091 | CEP152 | c.2905C= (p.His969=) c.2626C= (p.His876=) c.946C= (p.His316=) c.940C= (p.His314=) n.3870C= n.3856C= | |
15 | g.48756343G>T | CA392343168 | CEP152 | c.2905C>A (p.His969Asn) c.2626C>A (p.His876Asn) c.946C>A (p.His316Asn) c.940C>A (p.His314Asn) n.3870C>A n.3856C>A | |
15 | g.48756344G>A | CA490311330 | CEP152 | c.2904C>T (p.Ile968=) c.2625C>T (p.Ile875=) c.945C>T (p.Ile315=) c.939C>T (p.Ile313=) n.3869C>T n.3855C>T | gnomAD v4 |
15 | g.48756344G>C | CA392343169 | CEP152 | c.2904C>G (p.Ile968Met) c.2625C>G (p.Ile875Met) c.945C>G (p.Ile315Met) c.939C>G (p.Ile313Met) n.3869C>G n.3855C>G | |
15 | g.48756344G= | CA2175629095 | CEP152 | c.2904C= (p.Ile968=) c.2625C= (p.Ile875=) c.945C= (p.Ile315=) c.939C= (p.Ile313=) n.3869C= n.3855C= | |
15 | g.48756344G>T | CA490311331 | CEP152 | c.2904C>A (p.Ile968=) c.2625C>A (p.Ile875=) c.945C>A (p.Ile315=) c.939C>A (p.Ile313=) n.3869C>A n.3855C>A | dbSNP |
15 | g.48756345A>C | CA392343170 | CEP152 | c.2903T>G (p.Ile968Ser) c.2624T>G (p.Ile875Ser) c.944T>G (p.Ile315Ser) c.938T>G (p.Ile313Ser) n.3868T>G n.3854T>G | |
15 | g.48756345A>G | CA392343171 | CEP152 | c.2903T>C (p.Ile968Thr) c.2624T>C (p.Ile875Thr) c.944T>C (p.Ile315Thr) c.938T>C (p.Ile313Thr) n.3868T>C n.3854T>C | |
15 | g.48756345A>T | CA392343172 | CEP152 | c.2903T>A (p.Ile968Asn) c.2624T>A (p.Ile875Asn) c.944T>A (p.Ile315Asn) c.938T>A (p.Ile313Asn) n.3868T>A n.3854T>A | |
15 | g.48756346T>A | CA392343173 | CEP152 | c.2902A>T (p.Ile968Phe) c.2623A>T (p.Ile875Phe) c.943A>T (p.Ile315Phe) c.937A>T (p.Ile313Phe) n.3867A>T n.3853A>T | |
15 | g.48756346T>C | CA269538035 | CEP152 | c.2902A>G (p.Ile968Val) c.2623A>G (p.Ile875Val) c.943A>G (p.Ile315Val) c.937A>G (p.Ile313Val) n.3867A>G n.3853A>G | dbSNP |
15 | g.48756346T>G | CA392343174 | CEP152 | c.2902A>C (p.Ile968Leu) c.2623A>C (p.Ile875Leu) c.943A>C (p.Ile315Leu) c.937A>C (p.Ile313Leu) n.3867A>C n.3853A>C | |
15 | g.48756346T= | CA2175629098 | CEP152 | c.2902A= (p.Ile968=) c.2623A= (p.Ile875=) c.943A= (p.Ile315=) c.937A= (p.Ile313=) n.3867A= n.3853A= | |
15 | g.48756347T>A | CA392343176 | CEP152 | c.2901A>T (p.Glu967Asp) c.2622A>T (p.Glu874Asp) c.942A>T (p.Glu314Asp) c.936A>T (p.Glu312Asp) n.3866A>T n.3852A>T | |
15 | g.48756347T>C | CA10647104 | CEP152 | c.2901A>G (p.Glu967=) c.2622A>G (p.Glu874=) c.942A>G (p.Glu314=) c.936A>G (p.Glu312=) n.3866A>G n.3852A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756347T>G | CA392343175 | CEP152 | c.2901A>C (p.Glu967Asp) c.2622A>C (p.Glu874Asp) c.942A>C (p.Glu314Asp) c.936A>C (p.Glu312Asp) n.3866A>C n.3852A>C | |
15 | g.48756347T= | CA2175629107 | CEP152 | c.2901A= (p.Glu967=) c.2622A= (p.Glu874=) c.942A= (p.Glu314=) c.936A= (p.Glu312=) n.3866A= n.3852A= | |
15 | g.48756348T>A | CA392343177 | CEP152 | c.2900A>T (p.Glu967Val) c.2621A>T (p.Glu874Val) c.941A>T (p.Glu314Val) c.935A>T (p.Glu312Val) n.3865A>T n.3851A>T | |
15 | g.48756348T>C | CA392343178 | CEP152 | c.2900A>G (p.Glu967Gly) c.2621A>G (p.Glu874Gly) c.941A>G (p.Glu314Gly) c.935A>G (p.Glu312Gly) n.3865A>G n.3851A>G | |
15 | g.48756348T>G | CA392343179 | CEP152 | c.2900A>C (p.Glu967Ala) c.2621A>C (p.Glu874Ala) c.941A>C (p.Glu314Ala) c.935A>C (p.Glu312Ala) n.3865A>C n.3851A>C | |
15 | g.48756349C>A | CA392343180 | CEP152 | c.2899G>T (p.Glu967Ter) c.2620G>T (p.Glu874Ter) c.940G>T (p.Glu314Ter) c.934G>T (p.Glu312Ter) n.3864G>T n.3850G>T | |
15 | g.48756349C= | CA2175629111 | CEP152 | c.2899G= (p.Glu967=) c.2620G= (p.Glu874=) c.940G= (p.Glu314=) c.934G= (p.Glu312=) n.3864G= n.3850G= | |
15 | g.48756349C>G | CA392343181 | CEP152 | c.2899G>C (p.Glu967Gln) c.2620G>C (p.Glu874Gln) c.940G>C (p.Glu314Gln) c.934G>C (p.Glu312Gln) n.3864G>C n.3850G>C | |
15 | g.48756349C>T | CA392343182 | CEP152 | c.2899G>A (p.Glu967Lys) c.2620G>A (p.Glu874Lys) c.940G>A (p.Glu314Lys) c.934G>A (p.Glu312Lys) n.3864G>A n.3850G>A | dbSNP gnomAD v4 |
15 | g.48756350T>A | CA392343183 | CEP152 | c.2898A>T (p.Glu966Asp) c.2619A>T (p.Glu873Asp) c.939A>T (p.Glu313Asp) c.933A>T (p.Glu311Asp) n.3863A>T n.3849A>T | |
15 | g.48756350T>C | CA269538042 | CEP152 | c.2898A>G (p.Glu966=) c.2619A>G (p.Glu873=) c.939A>G (p.Glu313=) c.933A>G (p.Glu311=) n.3863A>G n.3849A>G | dbSNP gnomAD v4 |
15 | g.48756350T>G | CA392343184 | CEP152 | c.2898A>C (p.Glu966Asp) c.2619A>C (p.Glu873Asp) c.939A>C (p.Glu313Asp) c.933A>C (p.Glu311Asp) n.3863A>C n.3849A>C | |
15 | g.48756350T= | CA2175629114 | CEP152 | c.2898A= (p.Glu966=) c.2619A= (p.Glu873=) c.939A= (p.Glu313=) c.933A= (p.Glu311=) n.3863A= n.3849A= | |
15 | g.48756351T>A | CA392343185 | CEP152 | c.2897A>T (p.Glu966Val) c.2618A>T (p.Glu873Val) c.938A>T (p.Glu313Val) c.932A>T (p.Glu311Val) n.3862A>T n.3848A>T | |
15 | g.48756351T>C | CA269538046 | CEP152 | c.2897A>G (p.Glu966Gly) c.2618A>G (p.Glu873Gly) c.938A>G (p.Glu313Gly) c.932A>G (p.Glu311Gly) n.3862A>G n.3848A>G | dbSNP gnomAD v4 |
15 | g.48756351T>G | CA392343186 | CEP152 | c.2897A>C (p.Glu966Ala) c.2618A>C (p.Glu873Ala) c.938A>C (p.Glu313Ala) c.932A>C (p.Glu311Ala) n.3862A>C n.3848A>C | |
15 | g.48756351T= | CA2175629120 | CEP152 | c.2897A= (p.Glu966=) c.2618A= (p.Glu873=) c.938A= (p.Glu313=) c.932A= (p.Glu311=) n.3862A= n.3848A= | |
15 | g.48756352C>A | CA392343187 | CEP152 | c.2896G>T (p.Glu966Ter) c.2617G>T (p.Glu873Ter) c.937G>T (p.Glu313Ter) c.931G>T (p.Glu311Ter) n.3861G>T n.3847G>T | gnomAD v4 |
15 | g.48756352C= | CA2175629123 | CEP152 | c.2896G= (p.Glu966=) c.2617G= (p.Glu873=) c.937G= (p.Glu313=) c.931G= (p.Glu311=) n.3861G= n.3847G= | |
15 | g.48756352C>G | CA392343189 | CEP152 | c.2896G>C (p.Glu966Gln) c.2617G>C (p.Glu873Gln) c.937G>C (p.Glu313Gln) c.931G>C (p.Glu311Gln) n.3861G>C n.3847G>C | gnomAD v4 |
15 | g.48756352C>T | CA392343188 | CEP152 | c.2896G>A (p.Glu966Lys) c.2617G>A (p.Glu873Lys) c.937G>A (p.Glu313Lys) c.931G>A (p.Glu311Lys) n.3861G>A n.3847G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756355_48756358del | CA2575718055 | CEP152 | c.2893_2896del (p.Gln965LysfsTer18) c.2614_2617del (p.Gln872LysfsTer18) c.934_937del (p.Gln312LysfsTer18) c.928_931del (p.Gln310LysfsTer18) n.3858_3861del n.3844_3847del | gnomAD v4 |
15 | g.48756353T>A | CA392343190 | CEP152 | c.2895A>T (p.Gln965His) c.2616A>T (p.Gln872His) c.936A>T (p.Gln312His) c.930A>T (p.Gln310His) n.3860A>T n.3846A>T | |
15 | g.48756353T>C | CA490311332 | CEP152 | c.2895A>G (p.Gln965=) c.2616A>G (p.Gln872=) c.936A>G (p.Gln312=) c.930A>G (p.Gln310=) n.3860A>G n.3846A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756353T>G | CA392343191 | CEP152 | c.2895A>C (p.Gln965His) c.2616A>C (p.Gln872His) c.936A>C (p.Gln312His) c.930A>C (p.Gln310His) n.3860A>C n.3846A>C | |
15 | g.48756353T= | CA2175629127 | CEP152 | c.2895A= (p.Gln965=) c.2616A= (p.Gln872=) c.936A= (p.Gln312=) c.930A= (p.Gln310=) n.3860A= n.3846A= | |
15 | g.48756354T>A | CA392343192 | CEP152 | c.2894A>T (p.Gln965Leu) c.2615A>T (p.Gln872Leu) c.935A>T (p.Gln312Leu) c.929A>T (p.Gln310Leu) n.3859A>T n.3845A>T | |
15 | g.48756354T>C | CA269538051 | CEP152 | c.2894A>G (p.Gln965Arg) c.2615A>G (p.Gln872Arg) c.935A>G (p.Gln312Arg) c.929A>G (p.Gln310Arg) n.3859A>G n.3845A>G | dbSNP |
15 | g.48756354T>G | CA392343193 | CEP152 | c.2894A>C (p.Gln965Pro) c.2615A>C (p.Gln872Pro) c.935A>C (p.Gln312Pro) c.929A>C (p.Gln310Pro) n.3859A>C n.3845A>C | |
15 | g.48756354T= | CA2175629132 | CEP152 | c.2894A= (p.Gln965=) c.2615A= (p.Gln872=) c.935A= (p.Gln312=) c.929A= (p.Gln310=) n.3859A= n.3845A= | |
15 | g.48756355G>A | CA392343194 | CEP152 | c.2893C>T (p.Gln965Ter) c.2614C>T (p.Gln872Ter) c.934C>T (p.Gln312Ter) c.928C>T (p.Gln310Ter) n.3858C>T n.3844C>T | dbSNP |
15 | g.48756355G>C | CA7548449 | CEP152 | c.2893C>G (p.Gln965Glu) c.2614C>G (p.Gln872Glu) c.934C>G (p.Gln312Glu) c.928C>G (p.Gln310Glu) n.3858C>G n.3844C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756355G= | CA2175629138 | CEP152 | c.2893C= (p.Gln965=) c.2614C= (p.Gln872=) c.934C= (p.Gln312=) c.928C= (p.Gln310=) n.3858C= n.3844C= | |
15 | g.48756355G>T | CA392343195 | CEP152 | c.2893C>A (p.Gln965Lys) c.2614C>A (p.Gln872Lys) c.934C>A (p.Gln312Lys) c.928C>A (p.Gln310Lys) n.3858C>A n.3844C>A | |
15 | g.48756356C>A | CA392343196 | CEP152 | c.2892G>T (p.Lys964Asn) c.2613G>T (p.Lys871Asn) c.933G>T (p.Lys311Asn) c.927G>T (p.Lys309Asn) n.3857G>T n.3843G>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756356C= | CA2175629141 | CEP152 | c.2892G= (p.Lys964=) c.2613G= (p.Lys871=) c.933G= (p.Lys311=) c.927G= (p.Lys309=) n.3857G= n.3843G= | |
15 | g.48756356C>G | CA392343197 | CEP152 | c.2892G>C (p.Lys964Asn) c.2613G>C (p.Lys871Asn) c.933G>C (p.Lys311Asn) c.927G>C (p.Lys309Asn) n.3857G>C n.3843G>C | |
15 | g.48756356C>T | CA490311333 | CEP152 | c.2892G>A (p.Lys964=) c.2613G>A (p.Lys871=) c.933G>A (p.Lys311=) c.927G>A (p.Lys309=) n.3857G>A n.3843G>A | dbSNP gnomAD v4 |
15 | g.48756357T>A | CA392343198 | CEP152 | c.2891A>T (p.Lys964Met) c.2612A>T (p.Lys871Met) c.932A>T (p.Lys311Met) c.926A>T (p.Lys309Met) n.3856A>T n.3842A>T | |
15 | g.48756357T>C | CA392343199 | CEP152 | c.2891A>G (p.Lys964Arg) c.2612A>G (p.Lys871Arg) c.932A>G (p.Lys311Arg) c.926A>G (p.Lys309Arg) n.3856A>G n.3842A>G | |
15 | g.48756357T>G | CA392343200 | CEP152 | c.2891A>C (p.Lys964Thr) c.2612A>C (p.Lys871Thr) c.932A>C (p.Lys311Thr) c.926A>C (p.Lys309Thr) n.3856A>C n.3842A>C | |
15 | g.48756358T>A | CA392343201 | CEP152 | c.2890A>T (p.Lys964Ter) c.2611A>T (p.Lys871Ter) c.931A>T (p.Lys311Ter) c.925A>T (p.Lys309Ter) n.3855A>T n.3841A>T | |
15 | g.48756358T>C | CA392343203 | CEP152 | c.2890A>G (p.Lys964Glu) c.2611A>G (p.Lys871Glu) c.931A>G (p.Lys311Glu) c.925A>G (p.Lys309Glu) n.3855A>G n.3841A>G | gnomAD v4 |
15 | g.48756358T>G | CA392343202 | CEP152 | c.2890A>C (p.Lys964Gln) c.2611A>C (p.Lys871Gln) c.931A>C (p.Lys311Gln) c.925A>C (p.Lys309Gln) n.3855A>C n.3841A>C | |
15 | g.48756359T>A | CA392343204 | CEP152 | c.2889A>T (p.Glu963Asp) c.2610A>T (p.Glu870Asp) c.930A>T (p.Glu310Asp) c.924A>T (p.Glu308Asp) n.3854A>T n.3840A>T | |
15 | g.48756359T>C | CA490311334 | CEP152 | c.2889A>G (p.Glu963=) c.2610A>G (p.Glu870=) c.930A>G (p.Glu310=) c.924A>G (p.Glu308=) n.3854A>G n.3840A>G | |
15 | g.48756359T>G | CA392343205 | CEP152 | c.2889A>C (p.Glu963Asp) c.2610A>C (p.Glu870Asp) c.930A>C (p.Glu310Asp) c.924A>C (p.Glu308Asp) n.3854A>C n.3840A>C | |
15 | g.48756360T>A | CA392343206 | CEP152 | c.2888A>T (p.Glu963Val) c.2609A>T (p.Glu870Val) c.929A>T (p.Glu310Val) c.923A>T (p.Glu308Val) n.3853A>T n.3839A>T | |
15 | g.48756360T>C | CA392343207 | CEP152 | c.2888A>G (p.Glu963Gly) c.2609A>G (p.Glu870Gly) c.929A>G (p.Glu310Gly) c.923A>G (p.Glu308Gly) n.3853A>G n.3839A>G | gnomAD v4 |
15 | g.48756360T>G | CA392343208 | CEP152 | c.2888A>C (p.Glu963Ala) c.2609A>C (p.Glu870Ala) c.929A>C (p.Glu310Ala) c.923A>C (p.Glu308Ala) n.3853A>C n.3839A>C | |
15 | g.48756361C>A | CA392343209 | CEP152 | c.2887G>T (p.Glu963Ter) c.2608G>T (p.Glu870Ter) c.928G>T (p.Glu310Ter) c.922G>T (p.Glu308Ter) n.3852G>T n.3838G>T | COSMIC |
15 | g.48756361C>G | CA392343210 | CEP152 | c.2887G>C (p.Glu963Gln) c.2608G>C (p.Glu870Gln) c.928G>C (p.Glu310Gln) c.922G>C (p.Glu308Gln) n.3852G>C n.3838G>C | |
15 | g.48756361C>T | CA392343211 | CEP152 | c.2887G>A (p.Glu963Lys) c.2608G>A (p.Glu870Lys) c.928G>A (p.Glu310Lys) c.922G>A (p.Glu308Lys) n.3852G>A n.3838G>A | |
15 | g.48756362T>A | CA392343212 | CEP152 | c.2886A>T (p.Lys962Asn) c.2607A>T (p.Lys869Asn) c.927A>T (p.Lys309Asn) c.921A>T (p.Lys307Asn) n.3851A>T n.3837A>T | |
15 | g.48756362T>C | CA490311336 | CEP152 | c.2886A>G (p.Lys962=) c.2607A>G (p.Lys869=) c.927A>G (p.Lys309=) c.921A>G (p.Lys307=) n.3851A>G n.3837A>G | ClinVar |
15 | g.48756362T>G | CA392343213 | CEP152 | c.2886A>C (p.Lys962Asn) c.2607A>C (p.Lys869Asn) c.927A>C (p.Lys309Asn) c.921A>C (p.Lys307Asn) n.3851A>C n.3837A>C | COSMIC COSMIC |
15 | g.48756363T>A | CA392343215 | CEP152 | c.2885A>T (p.Lys962Ile) c.2606A>T (p.Lys869Ile) c.926A>T (p.Lys309Ile) c.920A>T (p.Lys307Ile) n.3850A>T n.3836A>T | |
15 | g.48756363T>C | CA392343216 | CEP152 | c.2885A>G (p.Lys962Arg) c.2606A>G (p.Lys869Arg) c.926A>G (p.Lys309Arg) c.920A>G (p.Lys307Arg) n.3850A>G n.3836A>G | |
15 | g.48756363T>G | CA392343214 | CEP152 | c.2885A>C (p.Lys962Thr) c.2606A>C (p.Lys869Thr) c.926A>C (p.Lys309Thr) c.920A>C (p.Lys307Thr) n.3850A>C n.3836A>C | |
15 | g.48756364T>A | CA392343217 | CEP152 | c.2884A>T (p.Lys962Ter) c.2605A>T (p.Lys869Ter) c.925A>T (p.Lys309Ter) c.919A>T (p.Lys307Ter) n.3849A>T n.3835A>T | |
15 | g.48756364T>C | CA392343218 | CEP152 | c.2884A>G (p.Lys962Glu) c.2605A>G (p.Lys869Glu) c.925A>G (p.Lys309Glu) c.919A>G (p.Lys307Glu) n.3849A>G n.3835A>G | |
15 | g.48756364T>G | CA392343219 | CEP152 | c.2884A>C (p.Lys962Gln) c.2605A>C (p.Lys869Gln) c.925A>C (p.Lys309Gln) c.919A>C (p.Lys307Gln) n.3849A>C n.3835A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756364T= | CA2175629143 | CEP152 | c.2884A= (p.Lys962=) c.2605A= (p.Lys869=) c.925A= (p.Lys309=) c.919A= (p.Lys307=) n.3849A= n.3835A= | |
15 | g.48756365G>A | CA490311337 | CEP152 | c.2883C>T (p.Asn961=) c.2604C>T (p.Asn868=) c.924C>T (p.Asn308=) c.918C>T (p.Asn306=) n.3848C>T n.3834C>T | |
15 | g.48756365G>C | CA392343220 | CEP152 | c.2883C>G (p.Asn961Lys) c.2604C>G (p.Asn868Lys) c.924C>G (p.Asn308Lys) c.918C>G (p.Asn306Lys) n.3848C>G n.3834C>G | |
15 | g.48756365G= | CA2175629146 | CEP152 | c.2883C= (p.Asn961=) c.2604C= (p.Asn868=) c.924C= (p.Asn308=) c.918C= (p.Asn306=) n.3848C= n.3834C= | |
15 | g.48756365G>T | CA392343221 | CEP152 | c.2883C>A (p.Asn961Lys) c.2604C>A (p.Asn868Lys) c.924C>A (p.Asn308Lys) c.918C>A (p.Asn306Lys) n.3848C>A n.3834C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756366T>A | CA392343223 | CEP152 | c.2882A>T (p.Asn961Ile) c.2603A>T (p.Asn868Ile) c.923A>T (p.Asn308Ile) c.917A>T (p.Asn306Ile) n.3847A>T n.3833A>T | |
15 | g.48756366T>C | CA7548450 | CEP152 | c.2882A>G (p.Asn961Ser) c.2603A>G (p.Asn868Ser) c.923A>G (p.Asn308Ser) c.917A>G (p.Asn306Ser) n.3847A>G n.3833A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756366T>G | CA392343222 | CEP152 | c.2882A>C (p.Asn961Thr) c.2603A>C (p.Asn868Thr) c.923A>C (p.Asn308Thr) c.917A>C (p.Asn306Thr) n.3847A>C n.3833A>C | |
15 | g.48756366T= | CA2175629150 | CEP152 | c.2882A= (p.Asn961=) c.2603A= (p.Asn868=) c.923A= (p.Asn308=) c.917A= (p.Asn306=) n.3847A= n.3833A= | |
15 | g.48756367T>A | CA392343224 | CEP152 | c.2881A>T (p.Asn961Tyr) c.2602A>T (p.Asn868Tyr) c.922A>T (p.Asn308Tyr) c.916A>T (p.Asn306Tyr) n.3846A>T n.3832A>T | |
15 | g.48756367T>C | CA392343225 | CEP152 | c.2881A>G (p.Asn961Asp) c.2602A>G (p.Asn868Asp) c.922A>G (p.Asn308Asp) c.916A>G (p.Asn306Asp) n.3846A>G n.3832A>G | |
15 | g.48756367T>G | CA392343226 | CEP152 | c.2881A>C (p.Asn961His) c.2602A>C (p.Asn868His) c.922A>C (p.Asn308His) c.916A>C (p.Asn306His) n.3846A>C n.3832A>C | |
15 | g.48756368C>A | CA392343227 | CEP152 | c.2880G>T (p.Trp960Cys) c.2601G>T (p.Trp867Cys) c.921G>T (p.Trp307Cys) c.915G>T (p.Trp305Cys) n.3845G>T n.3831G>T | |
15 | g.48756368C>G | CA392343228 | CEP152 | c.2880G>C (p.Trp960Cys) c.2601G>C (p.Trp867Cys) c.921G>C (p.Trp307Cys) c.915G>C (p.Trp305Cys) n.3845G>C n.3831G>C | |
15 | g.48756368C>T | CA392343229 | CEP152 | c.2880G>A (p.Trp960Ter) c.2601G>A (p.Trp867Ter) c.921G>A (p.Trp307Ter) c.915G>A (p.Trp305Ter) n.3845G>A n.3831G>A | ClinVar gnomAD v4 |
15 | g.48756369C>A | CA392343232 | CEP152 | c.2879G>T (p.Trp960Leu) c.2600G>T (p.Trp867Leu) c.920G>T (p.Trp307Leu) c.914G>T (p.Trp305Leu) n.3844G>T n.3830G>T | |
15 | g.48756369C>G | CA392343230 | CEP152 | c.2879G>C (p.Trp960Ser) c.2600G>C (p.Trp867Ser) c.920G>C (p.Trp307Ser) c.914G>C (p.Trp305Ser) n.3844G>C n.3830G>C | |
15 | g.48756369C>T | CA392343231 | CEP152 | c.2879G>A (p.Trp960Ter) c.2600G>A (p.Trp867Ter) c.920G>A (p.Trp307Ter) c.914G>A (p.Trp305Ter) n.3844G>A n.3830G>A | gnomAD v4 |
15 | g.48756370A= | CA2175629154 | CEP152 | c.2878T= (p.Trp960=) c.2599T= (p.Trp867=) c.919T= (p.Trp307=) c.913T= (p.Trp305=) n.3843T= n.3829T= | |
15 | g.48756370A>C | CA392343233 | CEP152 | c.2878T>G (p.Trp960Gly) c.2599T>G (p.Trp867Gly) c.919T>G (p.Trp307Gly) c.913T>G (p.Trp305Gly) n.3843T>G n.3829T>G | |
15 | g.48756370A>G | CA211044 | CEP152 | c.2878T>C (p.Trp960Arg) c.2599T>C (p.Trp867Arg) c.919T>C (p.Trp307Arg) c.913T>C (p.Trp305Arg) n.3843T>C n.3829T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756370A>T | CA392343234 | CEP152 | c.2878T>A (p.Trp960Arg) c.2599T>A (p.Trp867Arg) c.919T>A (p.Trp307Arg) c.913T>A (p.Trp305Arg) n.3843T>A n.3829T>A | |
15 | g.48756371T>A | CA392343235 | CEP152 | c.2877A>T (p.Glu959Asp) c.2598A>T (p.Glu866Asp) c.918A>T (p.Glu306Asp) c.912A>T (p.Glu304Asp) n.3842A>T n.3828A>T | |
15 | g.48756371T>C | CA490311338 | CEP152 | c.2877A>G (p.Glu959=) c.2598A>G (p.Glu866=) c.918A>G (p.Glu306=) c.912A>G (p.Glu304=) n.3842A>G n.3828A>G | |
15 | g.48756371T>G | CA392343236 | CEP152 | c.2877A>C (p.Glu959Asp) c.2598A>C (p.Glu866Asp) c.918A>C (p.Glu306Asp) c.912A>C (p.Glu304Asp) n.3842A>C n.3828A>C | |
15 | g.48756372T>A | CA392343237 | CEP152 | c.2876A>T (p.Glu959Val) c.2597A>T (p.Glu866Val) c.917A>T (p.Glu306Val) c.911A>T (p.Glu304Val) n.3841A>T n.3827A>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756372T>C | CA392343238 | CEP152 | c.2876A>G (p.Glu959Gly) c.2597A>G (p.Glu866Gly) c.917A>G (p.Glu306Gly) c.911A>G (p.Glu304Gly) n.3841A>G n.3827A>G | |
15 | g.48756372T>G | CA392343239 | CEP152 | c.2876A>C (p.Glu959Ala) c.2597A>C (p.Glu866Ala) c.917A>C (p.Glu306Ala) c.911A>C (p.Glu304Ala) n.3841A>C n.3827A>C | |
15 | g.48756372T= | CA2175629158 | CEP152 | c.2876A= (p.Glu959=) c.2597A= (p.Glu866=) c.917A= (p.Glu306=) c.911A= (p.Glu304=) n.3841A= n.3827A= | |
15 | g.48756373C>A | CA392343240 | CEP152 | c.2875G>T (p.Glu959Ter) c.2596G>T (p.Glu866Ter) c.916G>T (p.Glu306Ter) c.910G>T (p.Glu304Ter) n.3840G>T n.3826G>T | |
15 | g.48756373C>G | CA392343241 | CEP152 | c.2875G>C (p.Glu959Gln) c.2596G>C (p.Glu866Gln) c.916G>C (p.Glu306Gln) c.910G>C (p.Glu304Gln) n.3840G>C n.3826G>C | |
15 | g.48756373C>T | CA392343242 | CEP152 | c.2875G>A (p.Glu959Lys) c.2596G>A (p.Glu866Lys) c.916G>A (p.Glu306Lys) c.910G>A (p.Glu304Lys) n.3840G>A n.3826G>A | |
15 | g.48756374A= | CA2175629161 | CEP152 | c.2874T= (p.Ser958=) c.2595T= (p.Ser865=) c.915T= (p.Ser305=) c.909T= (p.Ser303=) n.3839T= n.3825T= | |
15 | g.48756374A>C | CA392343243 | CEP152 | c.2874T>G (p.Ser958Arg) c.2595T>G (p.Ser865Arg) c.915T>G (p.Ser305Arg) c.909T>G (p.Ser303Arg) n.3839T>G n.3825T>G | |
15 | g.48756374A>G | CA490311339 | CEP152 | c.2874T>C (p.Ser958=) c.2595T>C (p.Ser865=) c.915T>C (p.Ser305=) c.909T>C (p.Ser303=) n.3839T>C n.3825T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756374A>T | CA392343244 | CEP152 | c.2874T>A (p.Ser958Arg) c.2595T>A (p.Ser865Arg) c.915T>A (p.Ser305Arg) c.909T>A (p.Ser303Arg) n.3839T>A n.3825T>A | |
15 | g.48756375C>A | CA392343245 | CEP152 | c.2873G>T (p.Ser958Ile) c.2594G>T (p.Ser865Ile) c.914G>T (p.Ser305Ile) c.908G>T (p.Ser303Ile) n.3838G>T n.3824G>T | |
15 | g.48756375C>G | CA392343247 | CEP152 | c.2873G>C (p.Ser958Thr) c.2594G>C (p.Ser865Thr) c.914G>C (p.Ser305Thr) c.908G>C (p.Ser303Thr) n.3838G>C n.3824G>C | |
15 | g.48756375C>T | CA392343246 | CEP152 | c.2873G>A (p.Ser958Asn) c.2594G>A (p.Ser865Asn) c.914G>A (p.Ser305Asn) c.908G>A (p.Ser303Asn) n.3838G>A n.3824G>A | |
15 | g.48756376T>A | CA392343248 | CEP152 | c.2872A>T (p.Ser958Cys) c.2593A>T (p.Ser865Cys) c.913A>T (p.Ser305Cys) c.907A>T (p.Ser303Cys) n.3837A>T n.3823A>T | |
15 | g.48756376T>C | CA392343249 | CEP152 | c.2872A>G (p.Ser958Gly) c.2593A>G (p.Ser865Gly) c.913A>G (p.Ser305Gly) c.907A>G (p.Ser303Gly) n.3837A>G n.3823A>G | |
15 | g.48756376T>G | CA392343250 | CEP152 | c.2872A>C (p.Ser958Arg) c.2593A>C (p.Ser865Arg) c.913A>C (p.Ser305Arg) c.907A>C (p.Ser303Arg) n.3837A>C n.3823A>C | gnomAD v4 |
15 | g.48756377C>A | CA490311341 | CEP152 | c.2871G>T (p.Arg957=) c.2592G>T (p.Arg864=) c.912G>T (p.Arg304=) c.906G>T (p.Arg302=) n.3836G>T n.3822G>T | |
15 | g.48756377C= | CA2175629165 | CEP152 | c.2871G= (p.Arg957=) c.2592G= (p.Arg864=) c.912G= (p.Arg304=) c.906G= (p.Arg302=) n.3836G= n.3822G= | |
15 | g.48756377C>G | CA490311340 | CEP152 | c.2871G>C (p.Arg957=) c.2592G>C (p.Arg864=) c.912G>C (p.Arg304=) c.906G>C (p.Arg302=) n.3836G>C n.3822G>C | COSMIC COSMIC |
15 | g.48756377C>T | CA7548451 | CEP152 | c.2871G>A (p.Arg957=) c.2592G>A (p.Arg864=) c.912G>A (p.Arg304=) c.906G>A (p.Arg302=) n.3836G>A n.3822G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756378C>A | CA392343251 | CEP152 | c.2870G>T (p.Arg957Leu) c.2591G>T (p.Arg864Leu) c.911G>T (p.Arg304Leu) c.905G>T (p.Arg302Leu) n.3835G>T n.3821G>T | |
15 | g.48756378C= | CA2175629168 | CEP152 | c.2870G= (p.Arg957=) c.2591G= (p.Arg864=) c.911G= (p.Arg304=) c.905G= (p.Arg302=) n.3835G= n.3821G= | |
15 | g.48756378C>G | CA392343252 | CEP152 | c.2870G>C (p.Arg957Pro) c.2591G>C (p.Arg864Pro) c.911G>C (p.Arg304Pro) c.905G>C (p.Arg302Pro) n.3835G>C n.3821G>C | |
15 | g.48756378C>T | CA7548452 | CEP152 | c.2870G>A (p.Arg957Gln) c.2591G>A (p.Arg864Gln) c.911G>A (p.Arg304Gln) c.905G>A (p.Arg302Gln) n.3835G>A n.3821G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756379G>A | CA7548453 | CEP152 | c.2869C>T (p.Arg957Trp) c.2590C>T (p.Arg864Trp) c.910C>T (p.Arg304Trp) c.904C>T (p.Arg302Trp) n.3834C>T n.3820C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756379G>C | CA7548454 | CEP152 | c.2869C>G (p.Arg957Gly) c.2590C>G (p.Arg864Gly) c.910C>G (p.Arg304Gly) c.904C>G (p.Arg302Gly) n.3834C>G n.3820C>G | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.48756379G= | CA2175629172 | CEP152 | c.2869C= (p.Arg957=) c.2590C= (p.Arg864=) c.910C= (p.Arg304=) c.904C= (p.Arg302=) n.3834C= n.3820C= | |
15 | g.48756379G>T | CA490311342 | CEP152 | c.2869C>A (p.Arg957=) c.2590C>A (p.Arg864=) c.910C>A (p.Arg304=) c.904C>A (p.Arg302=) n.3834C>A n.3820C>A | |
15 | g.48756380A>C | CA490311343 | CEP152 | c.2868T>G (p.Ala956=) c.2589T>G (p.Ala863=) c.909T>G (p.Ala303=) c.903T>G (p.Ala301=) n.3833T>G n.3819T>G | |
15 | g.48756380A>G | CA490311345 | CEP152 | c.2868T>C (p.Ala956=) c.2589T>C (p.Ala863=) c.909T>C (p.Ala303=) c.903T>C (p.Ala301=) n.3833T>C n.3819T>C | |
15 | g.48756380A>T | CA490311344 | CEP152 | c.2868T>A (p.Ala956=) c.2589T>A (p.Ala863=) c.909T>A (p.Ala303=) c.903T>A (p.Ala301=) n.3833T>A n.3819T>A | |
15 | g.48756381G>A | CA7548455 | CEP152 | c.2867C>T (p.Ala956Val) c.2588C>T (p.Ala863Val) c.908C>T (p.Ala303Val) c.902C>T (p.Ala301Val) n.3832C>T n.3818C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756381G>C | CA392343253 | CEP152 | c.2867C>G (p.Ala956Gly) c.2588C>G (p.Ala863Gly) c.908C>G (p.Ala303Gly) c.902C>G (p.Ala301Gly) n.3832C>G n.3818C>G | |
15 | g.48756381G= | CA2175629179 | CEP152 | c.2867C= (p.Ala956=) c.2588C= (p.Ala863=) c.908C= (p.Ala303=) c.902C= (p.Ala301=) n.3832C= n.3818C= | |
15 | g.48756381G>T | CA392343254 | CEP152 | c.2867C>A (p.Ala956Asp) c.2588C>A (p.Ala863Asp) c.908C>A (p.Ala303Asp) c.902C>A (p.Ala301Asp) n.3832C>A n.3818C>A | |
15 | g.48756382C>A | CA7548456 | CEP152 | c.2866G>T (p.Ala956Ser) c.2587G>T (p.Ala863Ser) c.907G>T (p.Ala303Ser) c.901G>T (p.Ala301Ser) n.3831G>T n.3817G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756382C= | CA2175629184 | CEP152 | c.2866G= (p.Ala956=) c.2587G= (p.Ala863=) c.907G= (p.Ala303=) c.901G= (p.Ala301=) n.3831G= n.3817G= | |
15 | g.48756382C>G | CA392343256 | CEP152 | c.2866G>C (p.Ala956Pro) c.2587G>C (p.Ala863Pro) c.907G>C (p.Ala303Pro) c.901G>C (p.Ala301Pro) n.3831G>C n.3817G>C | |
15 | g.48756382C>T | CA392343255 | CEP152 | c.2866G>A (p.Ala956Thr) c.2587G>A (p.Ala863Thr) c.907G>A (p.Ala303Thr) c.901G>A (p.Ala301Thr) n.3831G>A n.3817G>A | |
15 | g.48756383C>A | CA392343257 | CEP152 | c.2865G>T (p.Lys955Asn) c.2586G>T (p.Lys862Asn) c.906G>T (p.Lys302Asn) c.900G>T (p.Lys300Asn) n.3830G>T n.3816G>T | |
15 | g.48756383C>G | CA392343258 | CEP152 | c.2865G>C (p.Lys955Asn) c.2586G>C (p.Lys862Asn) c.906G>C (p.Lys302Asn) c.900G>C (p.Lys300Asn) n.3830G>C n.3816G>C | |
15 | g.48756383C>T | CA490311346 | CEP152 | c.2865G>A (p.Lys955=) c.2586G>A (p.Lys862=) c.906G>A (p.Lys302=) c.900G>A (p.Lys300=) n.3830G>A n.3816G>A | |
15 | g.48756384T>A | CA7548457 | CEP152 | c.2864A>T (p.Lys955Met) c.2585A>T (p.Lys862Met) c.905A>T (p.Lys302Met) c.899A>T (p.Lys300Met) n.3829A>T n.3815A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756384T>C | CA392343259 | CEP152 | c.2864A>G (p.Lys955Arg) c.2585A>G (p.Lys862Arg) c.905A>G (p.Lys302Arg) c.899A>G (p.Lys300Arg) n.3829A>G n.3815A>G | |
15 | g.48756384T>G | CA269538144 | CEP152 | c.2864A>C (p.Lys955Thr) c.2585A>C (p.Lys862Thr) c.905A>C (p.Lys302Thr) c.899A>C (p.Lys300Thr) n.3829A>C n.3815A>C | dbSNP gnomAD v4 |
15 | g.48756384T= | CA2175629188 | CEP152 | c.2864A= (p.Lys955=) c.2585A= (p.Lys862=) c.905A= (p.Lys302=) c.899A= (p.Lys300=) n.3829A= n.3815A= | |
15 | g.48756385T>A | CA392343260 | CEP152 | c.2863A>T (p.Lys955Ter) c.2584A>T (p.Lys862Ter) c.904A>T (p.Lys302Ter) c.898A>T (p.Lys300Ter) n.3828A>T n.3814A>T | |
15 | g.48756385T>C | CA392343261 | CEP152 | c.2863A>G (p.Lys955Glu) c.2584A>G (p.Lys862Glu) c.904A>G (p.Lys302Glu) c.898A>G (p.Lys300Glu) n.3828A>G n.3814A>G | |
15 | g.48756385T>G | CA392343262 | CEP152 | c.2863A>C (p.Lys955Gln) c.2584A>C (p.Lys862Gln) c.904A>C (p.Lys302Gln) c.898A>C (p.Lys300Gln) n.3828A>C n.3814A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756385T= | CA2175629194 | CEP152 | c.2863A= (p.Lys955=) c.2584A= (p.Lys862=) c.904A= (p.Lys302=) c.898A= (p.Lys300=) n.3828A= n.3814A= | |
15 | g.48756385_48756388delinsTAGC | CA2175629196 | CEP152 | c.2860_2863delinsGCTA (p.Ala954=) c.2581_2584delinsGCTA (p.Ala861=) c.901_904delinsGCTA (p.Ala301=) c.895_898delinsGCTA (p.Ala299=) n.3825_3828delinsGCTA n.3811_3814delinsGCTA | |
15 | g.48756386A>C | CA490311347 | CEP152 | c.2862T>G (p.Ala954=) c.2583T>G (p.Ala861=) c.903T>G (p.Ala301=) c.897T>G (p.Ala299=) n.3827T>G n.3813T>G | |
15 | g.48756386A>G | CA490311348 | CEP152 | c.2862T>C (p.Ala954=) c.2583T>C (p.Ala861=) c.903T>C (p.Ala301=) c.897T>C (p.Ala299=) n.3827T>C n.3813T>C | ClinVar |
15 | g.48756386A>T | CA490311349 | CEP152 | c.2862T>A (p.Ala954=) c.2583T>A (p.Ala861=) c.903T>A (p.Ala301=) c.897T>A (p.Ala299=) n.3827T>A n.3813T>A | |
15 | g.48756386_48756388del | CA7548458 | CEP152 | c.2860_2862del (p.Ala954del) c.2581_2583del (p.Ala861del) c.901_903del (p.Ala301del) c.895_897del (p.Ala299del) n.3825_3827del n.3811_3813del | dbSNP ExAC gnomAD v2 |
15 | g.48756387G>A | CA392343263 | CEP152 | c.2861C>T (p.Ala954Val) c.2582C>T (p.Ala861Val) c.902C>T (p.Ala301Val) c.896C>T (p.Ala299Val) n.3826C>T n.3812C>T | |
15 | g.48756387G>C | CA392343264 | CEP152 | c.2861C>G (p.Ala954Gly) c.2582C>G (p.Ala861Gly) c.902C>G (p.Ala301Gly) c.896C>G (p.Ala299Gly) n.3826C>G n.3812C>G | |
15 | g.48756387G>T | CA392343265 | CEP152 | c.2861C>A (p.Ala954Asp) c.2582C>A (p.Ala861Asp) c.902C>A (p.Ala301Asp) c.896C>A (p.Ala299Asp) n.3826C>A n.3812C>A | |
15 | g.48756388C>A | CA392343268 | CEP152 | c.2860G>T (p.Ala954Ser) c.2581G>T (p.Ala861Ser) c.901G>T (p.Ala301Ser) c.895G>T (p.Ala299Ser) n.3825G>T n.3811G>T | gnomAD v4 |
15 | g.48756388C>G | CA392343267 | CEP152 | c.2860G>C (p.Ala954Pro) c.2581G>C (p.Ala861Pro) c.901G>C (p.Ala301Pro) c.895G>C (p.Ala299Pro) n.3825G>C n.3811G>C | |
15 | g.48756388C>T | CA392343266 | CEP152 | c.2860G>A (p.Ala954Thr) c.2581G>A (p.Ala861Thr) c.901G>A (p.Ala301Thr) c.895G>A (p.Ala299Thr) n.3825G>A n.3811G>A | |
15 | g.48756389T>A | CA392343269 | CEP152 | c.2859A>T (p.Leu953Phe) c.2580A>T (p.Leu860Phe) c.900A>T (p.Leu300Phe) c.894A>T (p.Leu298Phe) n.3824A>T n.3810A>T | |
15 | g.48756389T>C | CA490311350 | CEP152 | c.2859A>G (p.Leu953=) c.2580A>G (p.Leu860=) c.900A>G (p.Leu300=) c.894A>G (p.Leu298=) n.3824A>G n.3810A>G | |
15 | g.48756389T>G | CA392343270 | CEP152 | c.2859A>C (p.Leu953Phe) c.2580A>C (p.Leu860Phe) c.900A>C (p.Leu300Phe) c.894A>C (p.Leu298Phe) n.3824A>C n.3810A>C | |
15 | g.48756390A>C | CA392343271 | CEP152 | c.2858T>G (p.Leu953Ter) c.2579T>G (p.Leu860Ter) c.899T>G (p.Leu300Ter) c.893T>G (p.Leu298Ter) n.3823T>G n.3809T>G | |
15 | g.48756390A>G | CA392343272 | CEP152 | c.2858T>C (p.Leu953Ser) c.2579T>C (p.Leu860Ser) c.899T>C (p.Leu300Ser) c.893T>C (p.Leu298Ser) n.3823T>C n.3809T>C | gnomAD v4 |
15 | g.48756390A>T | CA392343273 | CEP152 | c.2858T>A (p.Leu953Ter) c.2579T>A (p.Leu860Ter) c.899T>A (p.Leu300Ter) c.893T>A (p.Leu298Ter) n.3823T>A n.3809T>A | |
15 | g.48756391A= | CA2175629203 | CEP152 | c.2857T= (p.Leu953=) c.2578T= (p.Leu860=) c.898T= (p.Leu300=) c.892T= (p.Leu298=) n.3822T= n.3808T= | |
15 | g.48756391A>C | CA392343274 | CEP152 | c.2857T>G (p.Leu953Val) c.2578T>G (p.Leu860Val) c.898T>G (p.Leu300Val) c.892T>G (p.Leu298Val) n.3822T>G n.3808T>G | |
15 | g.48756391A>G | CA7548459 | CEP152 | c.2857T>C (p.Leu953=) c.2578T>C (p.Leu860=) c.898T>C (p.Leu300=) c.892T>C (p.Leu298=) n.3822T>C n.3808T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756391A>T | CA392343275 | CEP152 | c.2857T>A (p.Leu953Ile) c.2578T>A (p.Leu860Ile) c.898T>A (p.Leu300Ile) c.892T>A (p.Leu298Ile) n.3822T>A n.3808T>A | |
15 | g.48756392C>A | CA392343277 | CEP152 | c.2856G>T (p.Glu952Asp) c.2577G>T (p.Glu859Asp) c.897G>T (p.Glu299Asp) c.891G>T (p.Glu297Asp) n.3821G>T n.3807G>T | |
15 | g.48756392C>G | CA392343276 | CEP152 | c.2856G>C (p.Glu952Asp) c.2577G>C (p.Glu859Asp) c.897G>C (p.Glu299Asp) c.891G>C (p.Glu297Asp) n.3821G>C n.3807G>C | |
15 | g.48756392C>T | CA490311351 | CEP152 | c.2856G>A (p.Glu952=) c.2577G>A (p.Glu859=) c.897G>A (p.Glu299=) c.891G>A (p.Glu297=) n.3821G>A n.3807G>A | gnomAD v4 |
15 | g.48756393T>A | CA7548460 | CEP152 | c.2855A>T (p.Glu952Val) c.2576A>T (p.Glu859Val) c.896A>T (p.Glu299Val) c.890A>T (p.Glu297Val) n.3820A>T n.3806A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756393T>C | CA392343278 | CEP152 | c.2855A>G (p.Glu952Gly) c.2576A>G (p.Glu859Gly) c.896A>G (p.Glu299Gly) c.890A>G (p.Glu297Gly) n.3820A>G n.3806A>G | |
15 | g.48756393T>G | CA392343279 | CEP152 | c.2855A>C (p.Glu952Ala) c.2576A>C (p.Glu859Ala) c.896A>C (p.Glu299Ala) c.890A>C (p.Glu297Ala) n.3820A>C n.3806A>C | |
15 | g.48756393T= | CA2175629206 | CEP152 | c.2855A= (p.Glu952=) c.2576A= (p.Glu859=) c.896A= (p.Glu299=) c.890A= (p.Glu297=) n.3820A= n.3806A= | |
15 | g.48756394C>A | CA392343280 | CEP152 | c.2854G>T (p.Glu952Ter) c.2575G>T (p.Glu859Ter) c.895G>T (p.Glu299Ter) c.889G>T (p.Glu297Ter) n.3819G>T n.3805G>T | |
15 | g.48756394C>G | CA392343281 | CEP152 | c.2854G>C (p.Glu952Gln) c.2575G>C (p.Glu859Gln) c.895G>C (p.Glu299Gln) c.889G>C (p.Glu297Gln) n.3819G>C n.3805G>C | |
15 | g.48756394C>T | CA392343282 | CEP152 | c.2854G>A (p.Glu952Lys) c.2575G>A (p.Glu859Lys) c.895G>A (p.Glu299Lys) c.889G>A (p.Glu297Lys) n.3819G>A n.3805G>A | gnomAD v4 |
15 | g.48756395A>C | CA490311352 | CEP152 | c.2853T>G (p.Ala951=) c.2574T>G (p.Ala858=) c.894T>G (p.Ala298=) c.888T>G (p.Ala296=) n.3818T>G n.3804T>G | |
15 | g.48756395A>G | CA490311353 | CEP152 | c.2853T>C (p.Ala951=) c.2574T>C (p.Ala858=) c.894T>C (p.Ala298=) c.888T>C (p.Ala296=) n.3818T>C n.3804T>C | |
15 | g.48756395A>T | CA490311354 | CEP152 | c.2853T>A (p.Ala951=) c.2574T>A (p.Ala858=) c.894T>A (p.Ala298=) c.888T>A (p.Ala296=) n.3818T>A n.3804T>A | |
15 | g.48756396G>A | CA392343283 | CEP152 | c.2852C>T (p.Ala951Val) c.2573C>T (p.Ala858Val) c.893C>T (p.Ala298Val) c.887C>T (p.Ala296Val) n.3817C>T n.3803C>T | |
15 | g.48756396G>C | CA392343285 | CEP152 | c.2852C>G (p.Ala951Gly) c.2573C>G (p.Ala858Gly) c.893C>G (p.Ala298Gly) c.887C>G (p.Ala296Gly) n.3817C>G n.3803C>G | |
15 | g.48756396G>T | CA392343284 | CEP152 | c.2852C>A (p.Ala951Asp) c.2573C>A (p.Ala858Asp) c.893C>A (p.Ala298Asp) c.887C>A (p.Ala296Asp) n.3817C>A n.3803C>A | |
15 | g.48756397C>A | CA392343286 | CEP152 | c.2851G>T (p.Ala951Ser) c.2572G>T (p.Ala858Ser) c.892G>T (p.Ala298Ser) c.886G>T (p.Ala296Ser) n.3816G>T n.3802G>T | gnomAD v4 |
15 | g.48756397C= | CA2175629208 | CEP152 | c.2851G= (p.Ala951=) c.2572G= (p.Ala858=) c.892G= (p.Ala298=) c.886G= (p.Ala296=) n.3816G= n.3802G= | |
15 | g.48756397C>G | CA392343287 | CEP152 | c.2851G>C (p.Ala951Pro) c.2572G>C (p.Ala858Pro) c.892G>C (p.Ala298Pro) c.886G>C (p.Ala296Pro) n.3816G>C n.3802G>C | |
15 | g.48756397C>T | CA7548461 | CEP152 | c.2851G>A (p.Ala951Thr) c.2572G>A (p.Ala858Thr) c.892G>A (p.Ala298Thr) c.886G>A (p.Ala296Thr) n.3816G>A n.3802G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756398C>A | CA392343288 | CEP152 | c.2850G>T (p.Arg950Ser) c.2571G>T (p.Arg857Ser) c.891G>T (p.Arg297Ser) c.885G>T (p.Arg295Ser) n.3815G>T n.3801G>T | |
15 | g.48756398C>G | CA392343289 | CEP152 | c.2850G>C (p.Arg950Ser) c.2571G>C (p.Arg857Ser) c.891G>C (p.Arg297Ser) c.885G>C (p.Arg295Ser) n.3815G>C n.3801G>C | |
15 | g.48756398C>T | CA490311355 | CEP152 | c.2850G>A (p.Arg950=) c.2571G>A (p.Arg857=) c.891G>A (p.Arg297=) c.885G>A (p.Arg295=) n.3815G>A n.3801G>A | gnomAD v4 |
15 | g.48756399C>A | CA7548462 | CEP152 | c.2849G>T (p.Arg950Met) c.2570G>T (p.Arg857Met) c.890G>T (p.Arg297Met) c.884G>T (p.Arg295Met) n.3814G>T n.3800G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756399C= | CA2175629211 | CEP152 | c.2849G= (p.Arg950=) c.2570G= (p.Arg857=) c.890G= (p.Arg297=) c.884G= (p.Arg295=) n.3814G= n.3800G= | |
15 | g.48756399C>G | CA392343290 | CEP152 | c.2849G>C (p.Arg950Thr) c.2570G>C (p.Arg857Thr) c.890G>C (p.Arg297Thr) c.884G>C (p.Arg295Thr) n.3814G>C n.3800G>C | |
15 | g.48756399C>T | CA392343291 | CEP152 | c.2849G>A (p.Arg950Lys) c.2570G>A (p.Arg857Lys) c.890G>A (p.Arg297Lys) c.884G>A (p.Arg295Lys) n.3814G>A n.3800G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756400T>A | CA392343292 | CEP152 | c.2848A>T (p.Arg950Trp) c.2569A>T (p.Arg857Trp) c.889A>T (p.Arg297Trp) c.883A>T (p.Arg295Trp) n.3813A>T n.3799A>T | |
15 | g.48756400T>C | CA392343293 | CEP152 | c.2848A>G (p.Arg950Gly) c.2569A>G (p.Arg857Gly) c.889A>G (p.Arg297Gly) c.883A>G (p.Arg295Gly) n.3813A>G n.3799A>G | |
15 | g.48756400T>G | CA490311358 | CEP152 | c.2848A>C (p.Arg950=) c.2569A>C (p.Arg857=) c.889A>C (p.Arg297=) c.883A>C (p.Arg295=) n.3813A>C n.3799A>C | |
15 | g.48756401G>A | CA490311359 | CEP152 | c.2847C>T (p.Ile949=) c.2568C>T (p.Ile856=) c.888C>T (p.Ile296=) c.882C>T (p.Ile294=) n.3812C>T n.3798C>T | dbSNP |
15 | g.48756401G>C | CA392343294 | CEP152 | c.2847C>G (p.Ile949Met) c.2568C>G (p.Ile856Met) c.888C>G (p.Ile296Met) c.882C>G (p.Ile294Met) n.3812C>G n.3798C>G | |
15 | g.48756401G>T | CA490311360 | CEP152 | c.2847C>A (p.Ile949=) c.2568C>A (p.Ile856=) c.888C>A (p.Ile296=) c.882C>A (p.Ile294=) n.3812C>A n.3798C>A | |
15 | g.48756402A>C | CA392343295 | CEP152 | c.2846T>G (p.Ile949Ser) c.2567T>G (p.Ile856Ser) c.887T>G (p.Ile296Ser) c.881T>G (p.Ile294Ser) n.3811T>G n.3797T>G | |
15 | g.48756402A>G | CA392343297 | CEP152 | c.2846T>C (p.Ile949Thr) c.2567T>C (p.Ile856Thr) c.887T>C (p.Ile296Thr) c.881T>C (p.Ile294Thr) n.3811T>C n.3797T>C | |
15 | g.48756402A>T | CA392343296 | CEP152 | c.2846T>A (p.Ile949Asn) c.2567T>A (p.Ile856Asn) c.887T>A (p.Ile296Asn) c.881T>A (p.Ile294Asn) n.3811T>A n.3797T>A | |
15 | g.48756403T>A | CA392343298 | CEP152 | c.2845A>T (p.Ile949Phe) c.2566A>T (p.Ile856Phe) c.886A>T (p.Ile296Phe) c.880A>T (p.Ile294Phe) n.3810A>T n.3796A>T | dbSNP gnomAD v4 |
15 | g.48756403T>C | CA392343299 | CEP152 | c.2845A>G (p.Ile949Val) c.2566A>G (p.Ile856Val) c.886A>G (p.Ile296Val) c.880A>G (p.Ile294Val) n.3810A>G n.3796A>G | |
15 | g.48756403T>G | CA392343300 | CEP152 | c.2845A>C (p.Ile949Leu) c.2566A>C (p.Ile856Leu) c.886A>C (p.Ile296Leu) c.880A>C (p.Ile294Leu) n.3810A>C n.3796A>C | |
15 | g.48756403T= | CA2175629214 | CEP152 | c.2845A= (p.Ile949=) c.2566A= (p.Ile856=) c.886A= (p.Ile296=) c.880A= (p.Ile294=) n.3810A= n.3796A= | |
15 | g.48756404G>A | CA490311361 | CEP152 | c.2844C>T (p.Val948=) c.2565C>T (p.Val855=) c.885C>T (p.Val295=) c.879C>T (p.Val293=) n.3809C>T n.3795C>T | |
15 | g.48756404G>C | CA490311362 | CEP152 | c.2844C>G (p.Val948=) c.2565C>G (p.Val855=) c.885C>G (p.Val295=) c.879C>G (p.Val293=) n.3809C>G n.3795C>G | |
15 | g.48756404G>T | CA490311363 | CEP152 | c.2844C>A (p.Val948=) c.2565C>A (p.Val855=) c.885C>A (p.Val295=) c.879C>A (p.Val293=) n.3809C>A n.3795C>A | gnomAD v4 COSMIC COSMIC |
15 | g.48756405A>C | CA392343301 | CEP152 | c.2843T>G (p.Val948Gly) c.2564T>G (p.Val855Gly) c.884T>G (p.Val295Gly) c.878T>G (p.Val293Gly) n.3808T>G n.3794T>G | |
15 | g.48756405A>G | CA392343302 | CEP152 | c.2843T>C (p.Val948Ala) c.2564T>C (p.Val855Ala) c.884T>C (p.Val295Ala) c.878T>C (p.Val293Ala) n.3808T>C n.3794T>C | |
15 | g.48756405A>T | CA392343303 | CEP152 | c.2843T>A (p.Val948Asp) c.2564T>A (p.Val855Asp) c.884T>A (p.Val295Asp) c.878T>A (p.Val293Asp) n.3808T>A n.3794T>A | |
15 | g.48756406C>A | CA392343304 | CEP152 | c.2842G>T (p.Val948Phe) c.2563G>T (p.Val855Phe) c.883G>T (p.Val295Phe) c.877G>T (p.Val293Phe) n.3807G>T n.3793G>T | |
15 | g.48756406C= | CA2175629218 | CEP152 | c.2842G= (p.Val948=) c.2563G= (p.Val855=) c.883G= (p.Val295=) c.877G= (p.Val293=) n.3807G= n.3793G= | |
15 | g.48756406C>G | CA7548463 | CEP152 | c.2842G>C (p.Val948Leu) c.2563G>C (p.Val855Leu) c.883G>C (p.Val295Leu) c.877G>C (p.Val293Leu) n.3807G>C n.3793G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756406C>T | CA392343305 | CEP152 | c.2842G>A (p.Val948Ile) c.2563G>A (p.Val855Ile) c.883G>A (p.Val295Ile) c.877G>A (p.Val293Ile) n.3807G>A n.3793G>A | dbSNP |
15 | g.48756407C>A | CA490311365 | CEP152 | c.2841G>T (p.Val947=) c.2562G>T (p.Val854=) c.882G>T (p.Val294=) c.876G>T (p.Val292=) n.3806G>T n.3792G>T | |
15 | g.48756407C= | CA2175629223 | CEP152 | c.2841G= (p.Val947=) c.2562G= (p.Val854=) c.882G= (p.Val294=) c.876G= (p.Val292=) n.3806G= n.3792G= | |
15 | g.48756407C>G | CA490311364 | CEP152 | c.2841G>C (p.Val947=) c.2562G>C (p.Val854=) c.882G>C (p.Val294=) c.876G>C (p.Val292=) n.3806G>C n.3792G>C | |
15 | g.48756407C>T | CA7548464 | CEP152 | c.2841G>A (p.Val947=) c.2562G>A (p.Val854=) c.882G>A (p.Val294=) c.876G>A (p.Val292=) n.3806G>A n.3792G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756409_48756410dup | CA2628343513 | CEP152 | c.2840_2841dup (p.Val948TrpfsTer7) c.2561_2562dup (p.Val855TrpfsTer7) c.881_882dup (p.Val295TrpfsTer7) c.875_876dup (p.Val293TrpfsTer7) n.3805_3806dup n.3791_3792dup | gnomAD v4 |
15 | g.48756408A>C | CA392343306 | CEP152 | c.2840T>G (p.Val947Gly) c.2561T>G (p.Val854Gly) c.881T>G (p.Val294Gly) c.875T>G (p.Val292Gly) n.3805T>G n.3791T>G | |
15 | g.48756408A>G | CA392343307 | CEP152 | c.2840T>C (p.Val947Ala) c.2561T>C (p.Val854Ala) c.881T>C (p.Val294Ala) c.875T>C (p.Val292Ala) n.3805T>C n.3791T>C | |
15 | g.48756408A>T | CA392343308 | CEP152 | c.2840T>A (p.Val947Glu) c.2561T>A (p.Val854Glu) c.881T>A (p.Val294Glu) c.875T>A (p.Val292Glu) n.3805T>A n.3791T>A | |
15 | g.48756409C>A | CA392343309 | CEP152 | c.2839G>T (p.Val947Leu) c.2560G>T (p.Val854Leu) c.880G>T (p.Val294Leu) c.874G>T (p.Val292Leu) n.3804G>T n.3790G>T | |
15 | g.48756409C>G | CA392343311 | CEP152 | c.2839G>C (p.Val947Leu) c.2560G>C (p.Val854Leu) c.880G>C (p.Val294Leu) c.874G>C (p.Val292Leu) n.3804G>C n.3790G>C | |
15 | g.48756409C>T | CA392343310 | CEP152 | c.2839G>A (p.Val947Met) c.2560G>A (p.Val854Met) c.880G>A (p.Val294Met) c.874G>A (p.Val292Met) n.3804G>A n.3790G>A | |
15 | g.48756410A>C | CA490311368 | CEP152 | c.2838T>G (p.Pro946=) c.2559T>G (p.Pro853=) c.879T>G (p.Pro293=) c.873T>G (p.Pro291=) n.3803T>G n.3789T>G | |
15 | g.48756410A>G | CA490311367 | CEP152 | c.2838T>C (p.Pro946=) c.2559T>C (p.Pro853=) c.879T>C (p.Pro293=) c.873T>C (p.Pro291=) n.3803T>C n.3789T>C | |
15 | g.48756410A>T | CA490311366 | CEP152 | c.2838T>A (p.Pro946=) c.2559T>A (p.Pro853=) c.879T>A (p.Pro293=) c.873T>A (p.Pro291=) n.3803T>A n.3789T>A | |
15 | g.48756411G>A | CA392343312 | CEP152 | c.2837C>T (p.Pro946Leu) c.2558C>T (p.Pro853Leu) c.878C>T (p.Pro293Leu) c.872C>T (p.Pro291Leu) n.3802C>T n.3788C>T | |
15 | g.48756411G>C | CA392343313 | CEP152 | c.2837C>G (p.Pro946Arg) c.2558C>G (p.Pro853Arg) c.878C>G (p.Pro293Arg) c.872C>G (p.Pro291Arg) n.3802C>G n.3788C>G | |
15 | g.48756411G>T | CA392343314 | CEP152 | c.2837C>A (p.Pro946His) c.2558C>A (p.Pro853His) c.878C>A (p.Pro293His) c.872C>A (p.Pro291His) n.3802C>A n.3788C>A | |
15 | g.48756412G>A | CA392343315 | CEP152 | c.2836C>T (p.Pro946Ser) c.2557C>T (p.Pro853Ser) c.877C>T (p.Pro293Ser) c.871C>T (p.Pro291Ser) n.3801C>T n.3787C>T | |
15 | g.48756412G>C | CA7548465 | CEP152 | c.2836C>G (p.Pro946Ala) c.2557C>G (p.Pro853Ala) c.877C>G (p.Pro293Ala) c.871C>G (p.Pro291Ala) n.3801C>G n.3787C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756412G= | CA2175629226 | CEP152 | c.2836C= (p.Pro946=) c.2557C= (p.Pro853=) c.877C= (p.Pro293=) c.871C= (p.Pro291=) n.3801C= n.3787C= | |
15 | g.48756412G>T | CA392343316 | CEP152 | c.2836C>A (p.Pro946Thr) c.2557C>A (p.Pro853Thr) c.877C>A (p.Pro293Thr) c.871C>A (p.Pro291Thr) n.3801C>A n.3787C>A | |
15 | g.48756413G>A | CA490311371 | CEP152 | c.2835C>T (p.Val945=) c.2556C>T (p.Val852=) c.876C>T (p.Val292=) c.870C>T (p.Val290=) n.3800C>T n.3786C>T | |
15 | g.48756413G>C | CA490311369 | CEP152 | c.2835C>G (p.Val945=) c.2556C>G (p.Val852=) c.876C>G (p.Val292=) c.870C>G (p.Val290=) n.3800C>G n.3786C>G | ClinVar dbSNP gnomAD v4 |
15 | g.48756413G= | CA2175629230 | CEP152 | c.2835C= (p.Val945=) c.2556C= (p.Val852=) c.876C= (p.Val292=) c.870C= (p.Val290=) n.3800C= n.3786C= | |
15 | g.48756413G>T | CA490311370 | CEP152 | c.2835C>A (p.Val945=) c.2556C>A (p.Val852=) c.876C>A (p.Val292=) c.870C>A (p.Val290=) n.3800C>A n.3786C>A | |
15 | g.48756414A>C | CA392343317 | CEP152 | c.2834T>G (p.Val945Gly) c.2555T>G (p.Val852Gly) c.875T>G (p.Val292Gly) c.869T>G (p.Val290Gly) n.3799T>G n.3785T>G | |
15 | g.48756414A>G | CA392343318 | CEP152 | c.2834T>C (p.Val945Ala) c.2555T>C (p.Val852Ala) c.875T>C (p.Val292Ala) c.869T>C (p.Val290Ala) n.3799T>C n.3785T>C | |
15 | g.48756414A>T | CA392343319 | CEP152 | c.2834T>A (p.Val945Asp) c.2555T>A (p.Val852Asp) c.875T>A (p.Val292Asp) c.869T>A (p.Val290Asp) n.3799T>A n.3785T>A | gnomAD v4 |
15 | g.48756414_48756417delinsACTT | CA2175629232 | CEP152 | c.2831_2834delinsAAGT (p.Glu944=) c.2552_2555delinsAAGT (p.Glu851=) c.872_875delinsAAGT (p.Glu291=) c.866_869delinsAAGT (p.Glu289=) n.3796_3799delinsAAGT n.3782_3785delinsAAGT | |
15 | g.48756415C>A | CA392343322 | CEP152 | c.2833G>T (p.Val945Phe) c.2554G>T (p.Val852Phe) c.874G>T (p.Val292Phe) c.868G>T (p.Val290Phe) n.3798G>T n.3784G>T | |
15 | g.48756415C>G | CA392343320 | CEP152 | c.2833G>C (p.Val945Leu) c.2554G>C (p.Val852Leu) c.874G>C (p.Val292Leu) c.868G>C (p.Val290Leu) n.3798G>C n.3784G>C | |
15 | g.48756415C>T | CA392343321 | CEP152 | c.2833G>A (p.Val945Ile) c.2554G>A (p.Val852Ile) c.874G>A (p.Val292Ile) c.868G>A (p.Val290Ile) n.3798G>A n.3784G>A | |
15 | g.48756419_48756421del | CA7548466 | CEP152 | c.2831_2833del (p.Glu944del) c.2552_2554del (p.Glu851del) c.872_874del (p.Glu291del) c.866_868del (p.Glu289del) n.3796_3798del n.3782_3784del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756416T>A | CA392343323 | CEP152 | c.2832A>T (p.Glu944Asp) c.2553A>T (p.Glu851Asp) c.873A>T (p.Glu291Asp) c.867A>T (p.Glu289Asp) n.3797A>T n.3783A>T | |
15 | g.48756416T>C | CA490311372 | CEP152 | c.2832A>G (p.Glu944=) c.2553A>G (p.Glu851=) c.873A>G (p.Glu291=) c.867A>G (p.Glu289=) n.3797A>G n.3783A>G | gnomAD v4 |
15 | g.48756416T>G | CA392343324 | CEP152 | c.2832A>C (p.Glu944Asp) c.2553A>C (p.Glu851Asp) c.873A>C (p.Glu291Asp) c.867A>C (p.Glu289Asp) n.3797A>C n.3783A>C | |
15 | g.48756417T>A | CA392343325 | CEP152 | c.2831A>T (p.Glu944Val) c.2552A>T (p.Glu851Val) c.872A>T (p.Glu291Val) c.866A>T (p.Glu289Val) n.3796A>T n.3782A>T | |
15 | g.48756417T>C | CA392343326 | CEP152 | c.2831A>G (p.Glu944Gly) c.2552A>G (p.Glu851Gly) c.872A>G (p.Glu291Gly) c.866A>G (p.Glu289Gly) n.3796A>G n.3782A>G | |
15 | g.48756417T>G | CA392343327 | CEP152 | c.2831A>C (p.Glu944Ala) c.2552A>C (p.Glu851Ala) c.872A>C (p.Glu291Ala) c.866A>C (p.Glu289Ala) n.3796A>C n.3782A>C | dbSNP gnomAD v4 |
15 | g.48756417T= | CA2175629237 | CEP152 | c.2831A= (p.Glu944=) c.2552A= (p.Glu851=) c.872A= (p.Glu291=) c.866A= (p.Glu289=) n.3796A= n.3782A= | |
15 | g.48756418C>A | CA392343328 | CEP152 | c.2830G>T (p.Glu944Ter) c.2551G>T (p.Glu851Ter) c.871G>T (p.Glu291Ter) c.865G>T (p.Glu289Ter) n.3795G>T n.3781G>T | |
15 | g.48756418C= | CA2175629240 | CEP152 | c.2830G= (p.Glu944=) c.2551G= (p.Glu851=) c.871G= (p.Glu291=) c.865G= (p.Glu289=) n.3795G= n.3781G= | |
15 | g.48756418C>G | CA392343329 | CEP152 | c.2830G>C (p.Glu944Gln) c.2551G>C (p.Glu851Gln) c.871G>C (p.Glu291Gln) c.865G>C (p.Glu289Gln) n.3795G>C n.3781G>C | |
15 | g.48756418C>T | CA392343330 | CEP152 | c.2830G>A (p.Glu944Lys) c.2551G>A (p.Glu851Lys) c.871G>A (p.Glu291Lys) c.865G>A (p.Glu289Lys) n.3795G>A n.3781G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756419T>A | CA392343331 | CEP152 | c.2829A>T (p.Glu943Asp) c.2550A>T (p.Glu850Asp) c.870A>T (p.Glu290Asp) c.864A>T (p.Glu288Asp) n.3794A>T n.3780A>T | |
15 | g.48756419T>C | CA490311373 | CEP152 | c.2829A>G (p.Glu943=) c.2550A>G (p.Glu850=) c.870A>G (p.Glu290=) c.864A>G (p.Glu288=) n.3794A>G n.3780A>G | gnomAD v4 |
15 | g.48756419T>G | CA392343332 | CEP152 | c.2829A>C (p.Glu943Asp) c.2550A>C (p.Glu850Asp) c.870A>C (p.Glu290Asp) c.864A>C (p.Glu288Asp) n.3794A>C n.3780A>C | |
15 | g.48756420T>A | CA392343333 | CEP152 | c.2828A>T (p.Glu943Val) c.2549A>T (p.Glu850Val) c.869A>T (p.Glu290Val) c.863A>T (p.Glu288Val) n.3793A>T n.3779A>T | |
15 | g.48756420T>C | CA7548467 | CEP152 | c.2828A>G (p.Glu943Gly) c.2549A>G (p.Glu850Gly) c.869A>G (p.Glu290Gly) c.863A>G (p.Glu288Gly) n.3793A>G n.3779A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756420T>G | CA392343334 | CEP152 | c.2828A>C (p.Glu943Ala) c.2549A>C (p.Glu850Ala) c.869A>C (p.Glu290Ala) c.863A>C (p.Glu288Ala) n.3793A>C n.3779A>C | COSMIC COSMIC |
15 | g.48756420T= | CA2175629244 | CEP152 | c.2828A= (p.Glu943=) c.2549A= (p.Glu850=) c.869A= (p.Glu290=) c.863A= (p.Glu288=) n.3793A= n.3779A= | |
15 | g.48756421C>A | CA392343336 | CEP152 | c.2827G>T (p.Glu943Ter) c.2548G>T (p.Glu850Ter) c.868G>T (p.Glu290Ter) c.862G>T (p.Glu288Ter) n.3792G>T n.3778G>T | |
15 | g.48756421C= | CA2175629251 | CEP152 | c.2827G= (p.Glu943=) c.2548G= (p.Glu850=) c.868G= (p.Glu290=) c.862G= (p.Glu288=) n.3792G= n.3778G= | |
15 | g.48756421C>G | CA392343335 | CEP152 | c.2827G>C (p.Glu943Gln) c.2548G>C (p.Glu850Gln) c.868G>C (p.Glu290Gln) c.862G>C (p.Glu288Gln) n.3792G>C n.3778G>C | |
15 | g.48756421C>T | CA211041 | CEP152 | c.2827G>A (p.Glu943Lys) c.2548G>A (p.Glu850Lys) c.868G>A (p.Glu290Lys) c.862G>A (p.Glu288Lys) n.3792G>A n.3778G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756422G>A | CA7548468 | CEP152 | c.2826C>T (p.Asn942=) c.2547C>T (p.Asn849=) c.867C>T (p.Asn289=) c.861C>T (p.Asn287=) n.3791C>T n.3777C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756422G>C | CA392343337 | CEP152 | c.2826C>G (p.Asn942Lys) c.2547C>G (p.Asn849Lys) c.867C>G (p.Asn289Lys) c.861C>G (p.Asn287Lys) n.3791C>G n.3777C>G | |
15 | g.48756422G= | CA2175629261 | CEP152 | c.2826C= (p.Asn942=) c.2547C= (p.Asn849=) c.867C= (p.Asn289=) c.861C= (p.Asn287=) n.3791C= n.3777C= | |
15 | g.48756422G>T | CA269538211 | CEP152 | c.2826C>A (p.Asn942Lys) c.2547C>A (p.Asn849Lys) c.867C>A (p.Asn289Lys) c.861C>A (p.Asn287Lys) n.3791C>A n.3777C>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756423T>A | CA392343338 | CEP152 | c.2825A>T (p.Asn942Ile) c.2546A>T (p.Asn849Ile) c.866A>T (p.Asn289Ile) c.860A>T (p.Asn287Ile) n.3790A>T n.3776A>T | |
15 | g.48756423T>C | CA392343339 | CEP152 | c.2825A>G (p.Asn942Ser) c.2546A>G (p.Asn849Ser) c.866A>G (p.Asn289Ser) c.860A>G (p.Asn287Ser) n.3790A>G n.3776A>G | |
15 | g.48756423T>G | CA7548469 | CEP152 | c.2825A>C (p.Asn942Thr) c.2546A>C (p.Asn849Thr) c.866A>C (p.Asn289Thr) c.860A>C (p.Asn287Thr) n.3790A>C n.3776A>C | dbSNP ExAC gnomAD v2 |
15 | g.48756423T= | CA2175629267 | CEP152 | c.2825A= (p.Asn942=) c.2546A= (p.Asn849=) c.866A= (p.Asn289=) c.860A= (p.Asn287=) n.3790A= n.3776A= | |
15 | g.48756424T>A | CA392343340 | CEP152 | c.2824A>T (p.Asn942Tyr) c.2545A>T (p.Asn849Tyr) c.865A>T (p.Asn289Tyr) c.859A>T (p.Asn287Tyr) n.3789A>T n.3775A>T | |
15 | g.48756424T>C | CA392343341 | CEP152 | c.2824A>G (p.Asn942Asp) c.2545A>G (p.Asn849Asp) c.865A>G (p.Asn289Asp) c.859A>G (p.Asn287Asp) n.3789A>G n.3775A>G | |
15 | g.48756424T>G | CA392343342 | CEP152 | c.2824A>C (p.Asn942His) c.2545A>C (p.Asn849His) c.865A>C (p.Asn289His) c.859A>C (p.Asn287His) n.3789A>C n.3775A>C | |
15 | g.48756425C>A | CA392343343 | CEP152 | c.2823G>T (p.Lys941Asn) c.2544G>T (p.Lys848Asn) c.864G>T (p.Lys288Asn) c.858G>T (p.Lys286Asn) n.3788G>T n.3774G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756425C= | CA2175629269 | CEP152 | c.2823G= (p.Lys941=) c.2544G= (p.Lys848=) c.864G= (p.Lys288=) c.858G= (p.Lys286=) n.3788G= n.3774G= | |
15 | g.48756425C>G | CA392343344 | CEP152 | c.2823G>C (p.Lys941Asn) c.2544G>C (p.Lys848Asn) c.864G>C (p.Lys288Asn) c.858G>C (p.Lys286Asn) n.3788G>C n.3774G>C | |
15 | g.48756425C>T | CA490311374 | CEP152 | c.2823G>A (p.Lys941=) c.2544G>A (p.Lys848=) c.864G>A (p.Lys288=) c.858G>A (p.Lys286=) n.3788G>A n.3774G>A | |
15 | g.48756426T>A | CA392343346 | CEP152 | c.2822A>T (p.Lys941Met) c.2543A>T (p.Lys848Met) c.863A>T (p.Lys288Met) c.857A>T (p.Lys286Met) n.3787A>T n.3773A>T | |
15 | g.48756426T>C | CA392343347 | CEP152 | c.2822A>G (p.Lys941Arg) c.2543A>G (p.Lys848Arg) c.863A>G (p.Lys288Arg) c.857A>G (p.Lys286Arg) n.3787A>G n.3773A>G | |
15 | g.48756426T>G | CA392343345 | CEP152 | c.2822A>C (p.Lys941Thr) c.2543A>C (p.Lys848Thr) c.863A>C (p.Lys288Thr) c.857A>C (p.Lys286Thr) n.3787A>C n.3773A>C | |
15 | g.48756427T>A | CA392343348 | CEP152 | c.2821A>T (p.Lys941Ter) c.2542A>T (p.Lys848Ter) c.862A>T (p.Lys288Ter) c.856A>T (p.Lys286Ter) n.3786A>T n.3772A>T | |
15 | g.48756427T>C | CA392343349 | CEP152 | c.2821A>G (p.Lys941Glu) c.2542A>G (p.Lys848Glu) c.862A>G (p.Lys288Glu) c.856A>G (p.Lys286Glu) n.3786A>G n.3772A>G | |
15 | g.48756427T>G | CA392343350 | CEP152 | c.2821A>C (p.Lys941Gln) c.2542A>C (p.Lys848Gln) c.862A>C (p.Lys288Gln) c.856A>C (p.Lys286Gln) n.3786A>C n.3772A>C | COSMIC |
15 | g.48756428T>A | CA392343351 | CEP152 | c.2820A>T (p.Leu940Phe) c.2541A>T (p.Leu847Phe) c.861A>T (p.Leu287Phe) c.855A>T (p.Leu285Phe) n.3785A>T n.3771A>T | |
15 | g.48756428T>C | CA490311375 | CEP152 | c.2820A>G (p.Leu940=) c.2541A>G (p.Leu847=) c.861A>G (p.Leu287=) c.855A>G (p.Leu285=) n.3785A>G n.3771A>G | dbSNP gnomAD v4 |
15 | g.48756428T>G | CA392343352 | CEP152 | c.2820A>C (p.Leu940Phe) c.2541A>C (p.Leu847Phe) c.861A>C (p.Leu287Phe) c.855A>C (p.Leu285Phe) n.3785A>C n.3771A>C | |
15 | g.48756428T= | CA2175629272 | CEP152 | c.2820A= (p.Leu940=) c.2541A= (p.Leu847=) c.861A= (p.Leu287=) c.855A= (p.Leu285=) n.3785A= n.3771A= | |
15 | g.48756429A>C | CA392343353 | CEP152 | c.2819T>G (p.Leu940Ter) c.2540T>G (p.Leu847Ter) c.860T>G (p.Leu287Ter) c.854T>G (p.Leu285Ter) n.3784T>G n.3770T>G | |
15 | g.48756429A>G | CA392343354 | CEP152 | c.2819T>C (p.Leu940Ser) c.2540T>C (p.Leu847Ser) c.860T>C (p.Leu287Ser) c.854T>C (p.Leu285Ser) n.3784T>C n.3770T>C | |
15 | g.48756429A>T | CA392343355 | CEP152 | c.2819T>A (p.Leu940Ter) c.2540T>A (p.Leu847Ter) c.860T>A (p.Leu287Ter) c.854T>A (p.Leu285Ter) n.3784T>A n.3770T>A | |
15 | g.48756430A>C | CA392343356 | CEP152 | c.2818T>G (p.Leu940Val) c.2539T>G (p.Leu847Val) c.859T>G (p.Leu287Val) c.853T>G (p.Leu285Val) n.3783T>G n.3769T>G | |
15 | g.48756430A>G | CA490311376 | CEP152 | c.2818T>C (p.Leu940=) c.2539T>C (p.Leu847=) c.859T>C (p.Leu287=) c.853T>C (p.Leu285=) n.3783T>C n.3769T>C | |
15 | g.48756430A>T | CA392343357 | CEP152 | c.2818T>A (p.Leu940Ile) c.2539T>A (p.Leu847Ile) c.859T>A (p.Leu287Ile) c.853T>A (p.Leu285Ile) n.3783T>A n.3769T>A | |
15 | g.48756431C>A | CA392343358 | CEP152 | c.2817G>T (p.Glu939Asp) c.2538G>T (p.Glu846Asp) c.858G>T (p.Glu286Asp) c.852G>T (p.Glu284Asp) n.3782G>T n.3768G>T | |
15 | g.48756431C>G | CA392343359 | CEP152 | c.2817G>C (p.Glu939Asp) c.2538G>C (p.Glu846Asp) c.858G>C (p.Glu286Asp) c.852G>C (p.Glu284Asp) n.3782G>C n.3768G>C | |
15 | g.48756431C>T | CA490311377 | CEP152 | c.2817G>A (p.Glu939=) c.2538G>A (p.Glu846=) c.858G>A (p.Glu286=) c.852G>A (p.Glu284=) n.3782G>A n.3768G>A | |
15 | g.48756432T>A | CA392343361 | CEP152 | c.2816A>T (p.Glu939Val) c.2537A>T (p.Glu846Val) c.857A>T (p.Glu286Val) c.851A>T (p.Glu284Val) n.3781A>T n.3767A>T | |
15 | g.48756432T>C | CA392343362 | CEP152 | c.2816A>G (p.Glu939Gly) c.2537A>G (p.Glu846Gly) c.857A>G (p.Glu286Gly) c.851A>G (p.Glu284Gly) n.3781A>G n.3767A>G | |
15 | g.48756432T>G | CA392343360 | CEP152 | c.2816A>C (p.Glu939Ala) c.2537A>C (p.Glu846Ala) c.857A>C (p.Glu286Ala) c.851A>C (p.Glu284Ala) n.3781A>C n.3767A>C | |
15 | g.48756433C>A | CA392343363 | CEP152 | c.2815G>T (p.Glu939Ter) c.2536G>T (p.Glu846Ter) c.856G>T (p.Glu286Ter) c.850G>T (p.Glu284Ter) n.3780G>T n.3766G>T | |
15 | g.48756433C>G | CA392343364 | CEP152 | c.2815G>C (p.Glu939Gln) c.2536G>C (p.Glu846Gln) c.856G>C (p.Glu286Gln) c.850G>C (p.Glu284Gln) n.3780G>C n.3766G>C | gnomAD v4 |
15 | g.48756433C>T | CA392343365 | CEP152 | c.2815G>A (p.Glu939Lys) c.2536G>A (p.Glu846Lys) c.856G>A (p.Glu286Lys) c.850G>A (p.Glu284Lys) n.3780G>A n.3766G>A | |
15 | g.48756434A>C | CA490311379 | CEP152 | c.2814T>G (p.Leu938=) c.2535T>G (p.Leu845=) c.855T>G (p.Leu285=) c.849T>G (p.Leu283=) n.3779T>G n.3765T>G | ClinVar |
15 | g.48756434A>G | CA490311381 | CEP152 | c.2814T>C (p.Leu938=) c.2535T>C (p.Leu845=) c.855T>C (p.Leu285=) c.849T>C (p.Leu283=) n.3779T>C n.3765T>C | dbSNP |
15 | g.48756434A>T | CA490311380 | CEP152 | c.2814T>A (p.Leu938=) c.2535T>A (p.Leu845=) c.855T>A (p.Leu285=) c.849T>A (p.Leu283=) n.3779T>A n.3765T>A | |
15 | g.48756435A= | CA2175629275 | CEP152 | c.2813T= (p.Leu938=) c.2534T= (p.Leu845=) c.854T= (p.Leu285=) c.848T= (p.Leu283=) n.3778T= n.3764T= | |
15 | g.48756435A>C | CA392343366 | CEP152 | c.2813T>G (p.Leu938Arg) c.2534T>G (p.Leu845Arg) c.854T>G (p.Leu285Arg) c.848T>G (p.Leu283Arg) n.3778T>G n.3764T>G | |
15 | g.48756435A>G | CA392343367 | CEP152 | c.2813T>C (p.Leu938Pro) c.2534T>C (p.Leu845Pro) c.854T>C (p.Leu285Pro) c.848T>C (p.Leu283Pro) n.3778T>C n.3764T>C | dbSNP |
15 | g.48756435A>T | CA392343368 | CEP152 | c.2813T>A (p.Leu938His) c.2534T>A (p.Leu845His) c.854T>A (p.Leu285His) c.848T>A (p.Leu283His) n.3778T>A n.3764T>A | |
15 | g.48756436G>A | CA392343371 | CEP152 | c.2812C>T (p.Leu938Phe) c.2533C>T (p.Leu845Phe) c.853C>T (p.Leu285Phe) c.847C>T (p.Leu283Phe) n.3777C>T n.3763C>T | gnomAD v4 |
15 | g.48756436G>C | CA392343369 | CEP152 | c.2812C>G (p.Leu938Val) c.2533C>G (p.Leu845Val) c.853C>G (p.Leu285Val) c.847C>G (p.Leu283Val) n.3777C>G n.3763C>G | dbSNP gnomAD v4 |
15 | g.48756436G= | CA2175629278 | CEP152 | c.2812C= (p.Leu938=) c.2533C= (p.Leu845=) c.853C= (p.Leu285=) c.847C= (p.Leu283=) n.3777C= n.3763C= | |
15 | g.48756436G>T | CA392343370 | CEP152 | c.2812C>A (p.Leu938Ile) c.2533C>A (p.Leu845Ile) c.853C>A (p.Leu285Ile) c.847C>A (p.Leu283Ile) n.3777C>A n.3763C>A | |
15 | g.48756437T>A | CA392343372 | CEP152 | c.2811A>T (p.Glu937Asp) c.2532A>T (p.Glu844Asp) c.852A>T (p.Glu284Asp) c.846A>T (p.Glu282Asp) n.3776A>T n.3762A>T | |
15 | g.48756437T>C | CA490311383 | CEP152 | c.2811A>G (p.Glu937=) c.2532A>G (p.Glu844=) c.852A>G (p.Glu284=) c.846A>G (p.Glu282=) n.3776A>G n.3762A>G | ClinVar gnomAD v4 |
15 | g.48756437T>G | CA392343373 | CEP152 | c.2811A>C (p.Glu937Asp) c.2532A>C (p.Glu844Asp) c.852A>C (p.Glu284Asp) c.846A>C (p.Glu282Asp) n.3776A>C n.3762A>C | |
15 | g.48756438T>A | CA392343374 | CEP152 | c.2810A>T (p.Glu937Val) c.2531A>T (p.Glu844Val) c.851A>T (p.Glu284Val) c.845A>T (p.Glu282Val) n.3775A>T n.3761A>T | |
15 | g.48756438T>C | CA392343375 | CEP152 | c.2810A>G (p.Glu937Gly) c.2531A>G (p.Glu844Gly) c.851A>G (p.Glu284Gly) c.845A>G (p.Glu282Gly) n.3775A>G n.3761A>G | |
15 | g.48756438T>G | CA392343376 | CEP152 | c.2810A>C (p.Glu937Ala) c.2531A>C (p.Glu844Ala) c.851A>C (p.Glu284Ala) c.845A>C (p.Glu282Ala) n.3775A>C n.3761A>C |