Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48756208T>A | CA392342826 | CEP152 | c.3040A>T (p.Thr1014Ser) c.2761A>T (p.Thr921Ser) c.1081A>T (p.Thr361Ser) c.1075A>T (p.Thr359Ser) n.4005A>T n.3991A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756208T>C | CA392342828 | CEP152 | c.3040A>G (p.Thr1014Ala) c.2761A>G (p.Thr921Ala) c.1081A>G (p.Thr361Ala) c.1075A>G (p.Thr359Ala) n.4005A>G n.3991A>G | |
15 | g.48756208T>G | CA392342829 | CEP152 | c.3040A>C (p.Thr1014Pro) c.2761A>C (p.Thr921Pro) c.1081A>C (p.Thr361Pro) c.1075A>C (p.Thr359Pro) n.4005A>C n.3991A>C | |
15 | g.48756208T= | CA2175628686 | CEP152 | c.3040A= (p.Thr1014=) c.2761A= (p.Thr921=) c.1081A= (p.Thr361=) c.1075A= (p.Thr359=) n.4005A= n.3991A= | |
15 | g.48756209C>A | CA392342831 | CEP152 | c.3039G>T (p.Glu1013Asp) c.2760G>T (p.Glu920Asp) c.1080G>T (p.Glu360Asp) c.1074G>T (p.Glu358Asp) n.4004G>T n.3990G>T | |
15 | g.48756209C>G | CA392342833 | CEP152 | c.3039G>C (p.Glu1013Asp) c.2760G>C (p.Glu920Asp) c.1080G>C (p.Glu360Asp) c.1074G>C (p.Glu358Asp) n.4004G>C n.3990G>C | |
15 | g.48756209C>T | CA490311252 | CEP152 | c.3039G>A (p.Glu1013=) c.2760G>A (p.Glu920=) c.1080G>A (p.Glu360=) c.1074G>A (p.Glu358=) n.4004G>A n.3990G>A | |
15 | g.48756210T>A | CA392342834 | CEP152 | c.3038A>T (p.Glu1013Val) c.2759A>T (p.Glu920Val) c.1079A>T (p.Glu360Val) c.1073A>T (p.Glu358Val) n.4003A>T n.3989A>T | |
15 | g.48756210T>C | CA392342837 | CEP152 | c.3038A>G (p.Glu1013Gly) c.2759A>G (p.Glu920Gly) c.1079A>G (p.Glu360Gly) c.1073A>G (p.Glu358Gly) n.4003A>G n.3989A>G | |
15 | g.48756210T>G | CA392342836 | CEP152 | c.3038A>C (p.Glu1013Ala) c.2759A>C (p.Glu920Ala) c.1079A>C (p.Glu360Ala) c.1073A>C (p.Glu358Ala) n.4003A>C n.3989A>C | |
15 | g.48756210_48756211delinsTC | CA2175628689 | CEP152 | c.3037_3038delinsGA (p.Glu1013=) c.2758_2759delinsGA (p.Glu920=) c.1078_1079delinsGA (p.Glu360=) c.1072_1073delinsGA (p.Glu358=) n.4002_4003delinsGA n.3988_3989delinsGA | |
15 | g.48756211C>A | CA392342838 | CEP152 | c.3037G>T (p.Glu1013Ter) c.2758G>T (p.Glu920Ter) c.1078G>T (p.Glu360Ter) c.1072G>T (p.Glu358Ter) n.4002G>T n.3988G>T | dbSNP gnomAD v4 |
15 | g.48756211C= | CA2175628691 | CEP152 | c.3037G= (p.Glu1013=) c.2758G= (p.Glu920=) c.1078G= (p.Glu360=) c.1072G= (p.Glu358=) n.4002G= n.3988G= | |
15 | g.48756211C>G | CA392342839 | CEP152 | c.3037G>C (p.Glu1013Gln) c.2758G>C (p.Glu920Gln) c.1078G>C (p.Glu360Gln) c.1072G>C (p.Glu358Gln) n.4002G>C n.3988G>C | |
15 | g.48756211C>T | CA392342841 | CEP152 | c.3037G>A (p.Glu1013Lys) c.2758G>A (p.Glu920Lys) c.1078G>A (p.Glu360Lys) c.1072G>A (p.Glu358Lys) n.4002G>A n.3988G>A | |
15 | g.48756212del | CA969564684 | CEP152 | c.3037del (p.Glu1013ArgfsTer8) c.2758del (p.Glu920ArgfsTer8) c.1078del (p.Glu360ArgfsTer8) c.1072del (p.Glu358ArgfsTer8) n.4002del n.3988del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756212C>A | CA392342842 | CEP152 | c.3036G>T (p.Lys1012Asn) c.2757G>T (p.Lys919Asn) c.1077G>T (p.Lys359Asn) c.1071G>T (p.Lys357Asn) n.4001G>T n.3987G>T | |
15 | g.48756212C>G | CA392342844 | CEP152 | c.3036G>C (p.Lys1012Asn) c.2757G>C (p.Lys919Asn) c.1077G>C (p.Lys359Asn) c.1071G>C (p.Lys357Asn) n.4001G>C n.3987G>C | |
15 | g.48756212C>T | CA490311253 | CEP152 | c.3036G>A (p.Lys1012=) c.2757G>A (p.Lys919=) c.1077G>A (p.Lys359=) c.1071G>A (p.Lys357=) n.4001G>A n.3987G>A | |
15 | g.48756213T>A | CA392342846 | CEP152 | c.3035A>T (p.Lys1012Met) c.2756A>T (p.Lys919Met) c.1076A>T (p.Lys359Met) c.1070A>T (p.Lys357Met) n.4000A>T n.3986A>T | |
15 | g.48756213T>C | CA392342848 | CEP152 | c.3035A>G (p.Lys1012Arg) c.2756A>G (p.Lys919Arg) c.1076A>G (p.Lys359Arg) c.1070A>G (p.Lys357Arg) n.4000A>G n.3986A>G | |
15 | g.48756213T>G | CA392342849 | CEP152 | c.3035A>C (p.Lys1012Thr) c.2756A>C (p.Lys919Thr) c.1076A>C (p.Lys359Thr) c.1070A>C (p.Lys357Thr) n.4000A>C n.3986A>C | |
15 | g.48756214T>A | CA392342851 | CEP152 | c.3034A>T (p.Lys1012Ter) c.2755A>T (p.Lys919Ter) c.1075A>T (p.Lys359Ter) c.1069A>T (p.Lys357Ter) n.3999A>T n.3985A>T | |
15 | g.48756214T>C | CA392342852 | CEP152 | c.3034A>G (p.Lys1012Glu) c.2755A>G (p.Lys919Glu) c.1075A>G (p.Lys359Glu) c.1069A>G (p.Lys357Glu) n.3999A>G n.3985A>G | |
15 | g.48756214T>G | CA392342854 | CEP152 | c.3034A>C (p.Lys1012Gln) c.2755A>C (p.Lys919Gln) c.1075A>C (p.Lys359Gln) c.1069A>C (p.Lys357Gln) n.3999A>C n.3985A>C | |
15 | g.48756215C>A | CA392342856 | CEP152 | c.3033G>T (p.Gln1011His) c.2754G>T (p.Gln918His) c.1074G>T (p.Gln358His) c.1068G>T (p.Gln356His) n.3998G>T n.3984G>T | |
15 | g.48756215C= | CA2175628695 | CEP152 | c.3033G= (p.Gln1011=) c.2754G= (p.Gln918=) c.1074G= (p.Gln358=) c.1068G= (p.Gln356=) n.3998G= n.3984G= | |
15 | g.48756215C>G | CA392342857 | CEP152 | c.3033G>C (p.Gln1011His) c.2754G>C (p.Gln918His) c.1074G>C (p.Gln358His) c.1068G>C (p.Gln356His) n.3998G>C n.3984G>C | |
15 | g.48756215C>T | CA490311254 | CEP152 | c.3033G>A (p.Gln1011=) c.2754G>A (p.Gln918=) c.1074G>A (p.Gln358=) c.1068G>A (p.Gln356=) n.3998G>A n.3984G>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756216T>A | CA392342859 | CEP152 | c.3032A>T (p.Gln1011Leu) c.2753A>T (p.Gln918Leu) c.1073A>T (p.Gln358Leu) c.1067A>T (p.Gln356Leu) n.3997A>T n.3983A>T | |
15 | g.48756216T>C | CA392342860 | CEP152 | c.3032A>G (p.Gln1011Arg) c.2753A>G (p.Gln918Arg) c.1073A>G (p.Gln358Arg) c.1067A>G (p.Gln356Arg) n.3997A>G n.3983A>G | |
15 | g.48756216T>G | CA392342862 | CEP152 | c.3032A>C (p.Gln1011Pro) c.2753A>C (p.Gln918Pro) c.1073A>C (p.Gln358Pro) c.1067A>C (p.Gln356Pro) n.3997A>C n.3983A>C | gnomAD v4 COSMIC COSMIC |
15 | g.48756216_48756219delinsTGAA | CA2175628697 | CEP152 | c.3029_3032delinsTTCA (p.Leu1010=) c.2750_2753delinsTTCA (p.Leu917=) c.1070_1073delinsTTCA (p.Leu357=) c.1064_1067delinsTTCA (p.Leu355=) n.3994_3997delinsTTCA n.3980_3983delinsTTCA | |
15 | g.48756217G>A | CA392342865 | CEP152 | c.3031C>T (p.Gln1011Ter) c.2752C>T (p.Gln918Ter) c.1072C>T (p.Gln358Ter) c.1066C>T (p.Gln356Ter) n.3996C>T n.3982C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.48756217G>C | CA269537788 | CEP152 | c.3031C>G (p.Gln1011Glu) c.2752C>G (p.Gln918Glu) c.1072C>G (p.Gln358Glu) c.1066C>G (p.Gln356Glu) n.3996C>G n.3982C>G | dbSNP gnomAD v4 |
15 | g.48756217G= | CA2175628702 | CEP152 | c.3031C= (p.Gln1011=) c.2752C= (p.Gln918=) c.1072C= (p.Gln358=) c.1066C= (p.Gln356=) n.3996C= n.3982C= | |
15 | g.48756217G>T | CA392342867 | CEP152 | c.3031C>A (p.Gln1011Lys) c.2752C>A (p.Gln918Lys) c.1072C>A (p.Gln358Lys) c.1066C>A (p.Gln356Lys) n.3996C>A n.3982C>A | |
15 | g.48756221_48756223del | CA7548430 | CEP152 | c.3029_3031del (p.Leu1010del) c.2750_2752del (p.Leu917del) c.1070_1072del (p.Leu357del) c.1064_1066del (p.Leu355del) n.3994_3996del n.3980_3982del | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756218A>C | CA490311255 | CEP152 | c.3030T>G (p.Leu1010=) c.2751T>G (p.Leu917=) c.1071T>G (p.Leu357=) c.1065T>G (p.Leu355=) n.3995T>G n.3981T>G | |
15 | g.48756218A>G | CA490311256 | CEP152 | c.3030T>C (p.Leu1010=) c.2751T>C (p.Leu917=) c.1071T>C (p.Leu357=) c.1065T>C (p.Leu355=) n.3995T>C n.3981T>C | |
15 | g.48756218A>T | CA490311257 | CEP152 | c.3030T>A (p.Leu1010=) c.2751T>A (p.Leu917=) c.1071T>A (p.Leu357=) c.1065T>A (p.Leu355=) n.3995T>A n.3981T>A | |
15 | g.48756219A= | CA2175628870 | CEP152 | c.3029T= (p.Leu1010=) c.2750T= (p.Leu917=) c.1070T= (p.Leu357=) c.1064T= (p.Leu355=) n.3994T= n.3980T= | |
15 | g.48756219A>C | CA392342869 | CEP152 | c.3029T>G (p.Leu1010Arg) c.2750T>G (p.Leu917Arg) c.1070T>G (p.Leu357Arg) c.1064T>G (p.Leu355Arg) n.3994T>G n.3980T>G | |
15 | g.48756219A>G | CA269537796 | CEP152 | c.3029T>C (p.Leu1010Pro) c.2750T>C (p.Leu917Pro) c.1070T>C (p.Leu357Pro) c.1064T>C (p.Leu355Pro) n.3994T>C n.3980T>C | dbSNP |
15 | g.48756219A>T | CA392342870 | CEP152 | c.3029T>A (p.Leu1010His) c.2750T>A (p.Leu917His) c.1070T>A (p.Leu357His) c.1064T>A (p.Leu355His) n.3994T>A n.3980T>A | |
15 | g.48756220G>A | CA392342872 | CEP152 | c.3028C>T (p.Leu1010Phe) c.2749C>T (p.Leu917Phe) c.1069C>T (p.Leu357Phe) c.1063C>T (p.Leu355Phe) n.3993C>T n.3979C>T | ClinVar dbSNP |
15 | g.48756220G>C | CA392342873 | CEP152 | c.3028C>G (p.Leu1010Val) c.2749C>G (p.Leu917Val) c.1069C>G (p.Leu357Val) c.1063C>G (p.Leu355Val) n.3993C>G n.3979C>G | |
15 | g.48756220G>T | CA392342875 | CEP152 | c.3028C>A (p.Leu1010Ile) c.2749C>A (p.Leu917Ile) c.1069C>A (p.Leu357Ile) c.1063C>A (p.Leu355Ile) n.3993C>A n.3979C>A | |
15 | g.48756221A>C | CA490311258 | CEP152 | c.3027T>G (p.Leu1009=) c.2748T>G (p.Leu916=) c.1068T>G (p.Leu356=) c.1062T>G (p.Leu354=) n.3992T>G n.3978T>G | |
15 | g.48756221A>G | CA490311259 | CEP152 | c.3027T>C (p.Leu1009=) c.2748T>C (p.Leu916=) c.1068T>C (p.Leu356=) c.1062T>C (p.Leu354=) n.3992T>C n.3978T>C | |
15 | g.48756221A>T | CA490311260 | CEP152 | c.3027T>A (p.Leu1009=) c.2748T>A (p.Leu916=) c.1068T>A (p.Leu356=) c.1062T>A (p.Leu354=) n.3992T>A n.3978T>A | |
15 | g.48756222A>C | CA392342879 | CEP152 | c.3026T>G (p.Leu1009Arg) c.2747T>G (p.Leu916Arg) c.1067T>G (p.Leu356Arg) c.1061T>G (p.Leu354Arg) n.3991T>G n.3977T>G | |
15 | g.48756222A>G | CA392342877 | CEP152 | c.3026T>C (p.Leu1009Pro) c.2747T>C (p.Leu916Pro) c.1067T>C (p.Leu356Pro) c.1061T>C (p.Leu354Pro) n.3991T>C n.3977T>C | |
15 | g.48756222A>T | CA392342876 | CEP152 | c.3026T>A (p.Leu1009His) c.2747T>A (p.Leu916His) c.1067T>A (p.Leu356His) c.1061T>A (p.Leu354His) n.3991T>A n.3977T>A | |
15 | g.48756223G>A | CA392342881 | CEP152 | c.3025C>T (p.Leu1009Phe) c.2746C>T (p.Leu916Phe) c.1066C>T (p.Leu356Phe) c.1060C>T (p.Leu354Phe) n.3990C>T n.3976C>T | dbSNP |
15 | g.48756223G>C | CA392342883 | CEP152 | c.3025C>G (p.Leu1009Val) c.2746C>G (p.Leu916Val) c.1066C>G (p.Leu356Val) c.1060C>G (p.Leu354Val) n.3990C>G n.3976C>G | |
15 | g.48756223G= | CA2175628874 | CEP152 | c.3025C= (p.Leu1009=) c.2746C= (p.Leu916=) c.1066C= (p.Leu356=) c.1060C= (p.Leu354=) n.3990C= n.3976C= | |
15 | g.48756223G>T | CA392342885 | CEP152 | c.3025C>A (p.Leu1009Ile) c.2746C>A (p.Leu916Ile) c.1066C>A (p.Leu356Ile) c.1060C>A (p.Leu354Ile) n.3990C>A n.3976C>A | |
15 | g.48756224T>A | CA490311261 | CEP152 | c.3024A>T (p.Leu1008=) c.2745A>T (p.Leu915=) c.1065A>T (p.Leu355=) c.1059A>T (p.Leu353=) n.3989A>T n.3975A>T | |
15 | g.48756224T>C | CA490311262 | CEP152 | c.3024A>G (p.Leu1008=) c.2745A>G (p.Leu915=) c.1065A>G (p.Leu355=) c.1059A>G (p.Leu353=) n.3989A>G n.3975A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756224T>G | CA490311263 | CEP152 | c.3024A>C (p.Leu1008=) c.2745A>C (p.Leu915=) c.1065A>C (p.Leu355=) c.1059A>C (p.Leu353=) n.3989A>C n.3975A>C | |
15 | g.48756224T= | CA2175628877 | CEP152 | c.3024A= (p.Leu1008=) c.2745A= (p.Leu915=) c.1065A= (p.Leu355=) c.1059A= (p.Leu353=) n.3989A= n.3975A= | |
15 | g.48756225A>C | CA392342887 | CEP152 | c.3023T>G (p.Leu1008Arg) c.2744T>G (p.Leu915Arg) c.1064T>G (p.Leu355Arg) c.1058T>G (p.Leu353Arg) n.3988T>G n.3974T>G | |
15 | g.48756225A>G | CA392342889 | CEP152 | c.3023T>C (p.Leu1008Pro) c.2744T>C (p.Leu915Pro) c.1064T>C (p.Leu355Pro) c.1058T>C (p.Leu353Pro) n.3988T>C n.3974T>C | |
15 | g.48756225A>T | CA392342890 | CEP152 | c.3023T>A (p.Leu1008Gln) c.2744T>A (p.Leu915Gln) c.1064T>A (p.Leu355Gln) c.1058T>A (p.Leu353Gln) n.3988T>A n.3974T>A | |
15 | g.48756226G>A | CA269537805 | CEP152 | c.3022C>T (p.Leu1008=) c.2743C>T (p.Leu915=) c.1063C>T (p.Leu355=) c.1057C>T (p.Leu353=) n.3987C>T n.3973C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756226G>C | CA392342892 | CEP152 | c.3022C>G (p.Leu1008Val) c.2743C>G (p.Leu915Val) c.1063C>G (p.Leu355Val) c.1057C>G (p.Leu353Val) n.3987C>G n.3973C>G | |
15 | g.48756226G= | CA2175628881 | CEP152 | c.3022C= (p.Leu1008=) c.2743C= (p.Leu915=) c.1063C= (p.Leu355=) c.1057C= (p.Leu353=) n.3987C= n.3973C= | |
15 | g.48756226G>T | CA392342894 | CEP152 | c.3022C>A (p.Leu1008Ile) c.2743C>A (p.Leu915Ile) c.1063C>A (p.Leu355Ile) c.1057C>A (p.Leu353Ile) n.3987C>A n.3973C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756227T>A | CA392342896 | CEP152 | c.3021A>T (p.Glu1007Asp) c.2742A>T (p.Glu914Asp) c.1062A>T (p.Glu354Asp) c.1056A>T (p.Glu352Asp) n.3986A>T n.3972A>T | |
15 | g.48756227T>C | CA490311264 | CEP152 | c.3021A>G (p.Glu1007=) c.2742A>G (p.Glu914=) c.1062A>G (p.Glu354=) c.1056A>G (p.Glu352=) n.3986A>G n.3972A>G | gnomAD v4 |
15 | g.48756227T>G | CA392342897 | CEP152 | c.3021A>C (p.Glu1007Asp) c.2742A>C (p.Glu914Asp) c.1062A>C (p.Glu354Asp) c.1056A>C (p.Glu352Asp) n.3986A>C n.3972A>C | |
15 | g.48756228T>A | CA392342898 | CEP152 | c.3020A>T (p.Glu1007Val) c.2741A>T (p.Glu914Val) c.1061A>T (p.Glu354Val) c.1055A>T (p.Glu352Val) n.3985A>T n.3971A>T | |
15 | g.48756228T>C | CA392342899 | CEP152 | c.3020A>G (p.Glu1007Gly) c.2741A>G (p.Glu914Gly) c.1061A>G (p.Glu354Gly) c.1055A>G (p.Glu352Gly) n.3985A>G n.3971A>G | |
15 | g.48756228T>G | CA392342900 | CEP152 | c.3020A>C (p.Glu1007Ala) c.2741A>C (p.Glu914Ala) c.1061A>C (p.Glu354Ala) c.1055A>C (p.Glu352Ala) n.3985A>C n.3971A>C | |
15 | g.48756229C>A | CA392342902 | CEP152 | c.3019G>T (p.Glu1007Ter) c.2740G>T (p.Glu914Ter) c.1060G>T (p.Glu354Ter) c.1054G>T (p.Glu352Ter) n.3984G>T n.3970G>T | |
15 | g.48756229C>G | CA392342903 | CEP152 | c.3019G>C (p.Glu1007Gln) c.2740G>C (p.Glu914Gln) c.1060G>C (p.Glu354Gln) c.1054G>C (p.Glu352Gln) n.3984G>C n.3970G>C | |
15 | g.48756229C>T | CA392342901 | CEP152 | c.3019G>A (p.Glu1007Lys) c.2740G>A (p.Glu914Lys) c.1060G>A (p.Glu354Lys) c.1054G>A (p.Glu352Lys) n.3984G>A n.3970G>A | |
15 | g.48756230A>C | CA490311265 | CEP152 | c.3018T>G (p.Thr1006=) c.2739T>G (p.Thr913=) c.1059T>G (p.Thr353=) c.1053T>G (p.Thr351=) n.3983T>G n.3969T>G | |
15 | g.48756230A>G | CA490311266 | CEP152 | c.3018T>C (p.Thr1006=) c.2739T>C (p.Thr913=) c.1059T>C (p.Thr353=) c.1053T>C (p.Thr351=) n.3983T>C n.3969T>C | |
15 | g.48756230A>T | CA490311267 | CEP152 | c.3018T>A (p.Thr1006=) c.2739T>A (p.Thr913=) c.1059T>A (p.Thr353=) c.1053T>A (p.Thr351=) n.3983T>A n.3969T>A | |
15 | g.48756231G>A | CA392342904 | CEP152 | c.3017C>T (p.Thr1006Ile) c.2738C>T (p.Thr913Ile) c.1058C>T (p.Thr353Ile) c.1052C>T (p.Thr351Ile) n.3982C>T n.3968C>T | |
15 | g.48756231G>C | CA392342905 | CEP152 | c.3017C>G (p.Thr1006Ser) c.2738C>G (p.Thr913Ser) c.1058C>G (p.Thr353Ser) c.1052C>G (p.Thr351Ser) n.3982C>G n.3968C>G | |
15 | g.48756231G= | CA2175628886 | CEP152 | c.3017C= (p.Thr1006=) c.2738C= (p.Thr913=) c.1058C= (p.Thr353=) c.1052C= (p.Thr351=) n.3982C= n.3968C= | |
15 | g.48756231G>T | CA392342906 | CEP152 | c.3017C>A (p.Thr1006Asn) c.2738C>A (p.Thr913Asn) c.1058C>A (p.Thr353Asn) c.1052C>A (p.Thr351Asn) n.3982C>A n.3968C>A | dbSNP |
15 | g.48756231_48756232delinsGT | CA2175628885 | CEP152 | c.3016_3017delinsAC (p.Thr1006=) c.2737_2738delinsAC (p.Thr913=) c.1057_1058delinsAC (p.Thr353=) c.1051_1052delinsAC (p.Thr351=) n.3981_3982delinsAC n.3967_3968delinsAC | |
15 | g.48756232T>A | CA392342907 | CEP152 | c.3016A>T (p.Thr1006Ser) c.2737A>T (p.Thr913Ser) c.1057A>T (p.Thr353Ser) c.1051A>T (p.Thr351Ser) n.3981A>T n.3967A>T | |
15 | g.48756232T>C | CA392342908 | CEP152 | c.3016A>G (p.Thr1006Ala) c.2737A>G (p.Thr913Ala) c.1057A>G (p.Thr353Ala) c.1051A>G (p.Thr351Ala) n.3981A>G n.3967A>G | |
15 | g.48756232T>G | CA392342909 | CEP152 | c.3016A>C (p.Thr1006Pro) c.2737A>C (p.Thr913Pro) c.1057A>C (p.Thr353Pro) c.1051A>C (p.Thr351Pro) n.3981A>C n.3967A>C | |
15 | g.48756232_48756234delinsTTT | CA2175628893 | CEP152 | c.3014_3016delinsAAA (p.Lys1005=) c.2735_2737delinsAAA (p.Lys912=) c.1055_1057delinsAAA (p.Lys352=) c.1049_1051delinsAAA (p.Lys350=) n.3979_3981delinsAAA n.3965_3967delinsAAA | |
15 | g.48756237del | CA211050 | CEP152 | c.3016del (p.Thr1006LeufsTer15) c.2737del (p.Thr913LeufsTer15) c.1057del (p.Thr353LeufsTer15) c.1051del (p.Thr351LeufsTer15) n.3981del n.3967del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756233T>A | CA392342910 | CEP152 | c.3015A>T (p.Lys1005Asn) c.2736A>T (p.Lys912Asn) c.1056A>T (p.Lys352Asn) c.1050A>T (p.Lys350Asn) n.3980A>T n.3966A>T | |
15 | g.48756233T>C | CA490311276 | CEP152 | c.3015A>G (p.Lys1005=) c.2736A>G (p.Lys912=) c.1056A>G (p.Lys352=) c.1050A>G (p.Lys350=) n.3980A>G n.3966A>G | |
15 | g.48756233T>G | CA392342911 | CEP152 | c.3015A>C (p.Lys1005Asn) c.2736A>C (p.Lys912Asn) c.1056A>C (p.Lys352Asn) c.1050A>C (p.Lys350Asn) n.3980A>C n.3966A>C | |
15 | g.48756233_48756234delinsA | CA211155 | CEP152 | c.3014_3015delinsT (p.Lys1005IlefsTer16) c.2735_2736delinsT (p.Lys912IlefsTer16) c.1055_1056delinsT (p.Lys352IlefsTer16) c.1049_1050delinsT (p.Lys350IlefsTer16) n.3979_3980delinsT n.3965_3966delinsT | ClinVar dbSNP |
15 | g.48756234T>A | CA211047 | CEP152 | c.3014A>T (p.Lys1005Ile) c.2735A>T (p.Lys912Ile) c.1055A>T (p.Lys352Ile) c.1049A>T (p.Lys350Ile) n.3979A>T n.3965A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756234T>C | CA392342912 | CEP152 | c.3014A>G (p.Lys1005Arg) c.2735A>G (p.Lys912Arg) c.1055A>G (p.Lys352Arg) c.1049A>G (p.Lys350Arg) n.3979A>G n.3965A>G | |
15 | g.48756234T>G | CA392342913 | CEP152 | c.3014A>C (p.Lys1005Thr) c.2735A>C (p.Lys912Thr) c.1055A>C (p.Lys352Thr) c.1049A>C (p.Lys350Thr) n.3979A>C n.3965A>C | |
15 | g.48756234T= | CA2175628901 | CEP152 | c.3014A= (p.Lys1005=) c.2735A= (p.Lys912=) c.1055A= (p.Lys352=) c.1049A= (p.Lys350=) n.3979A= n.3965A= | |
15 | g.48756235T>A | CA392342914 | CEP152 | c.3013A>T (p.Lys1005Ter) c.2734A>T (p.Lys912Ter) c.1054A>T (p.Lys352Ter) c.1048A>T (p.Lys350Ter) n.3978A>T n.3964A>T | |
15 | g.48756235T>C | CA392342916 | CEP152 | c.3013A>G (p.Lys1005Glu) c.2734A>G (p.Lys912Glu) c.1054A>G (p.Lys352Glu) c.1048A>G (p.Lys350Glu) n.3978A>G n.3964A>G | |
15 | g.48756235T>G | CA392342915 | CEP152 | c.3013A>C (p.Lys1005Gln) c.2734A>C (p.Lys912Gln) c.1054A>C (p.Lys352Gln) c.1048A>C (p.Lys350Gln) n.3978A>C n.3964A>C | |
15 | g.48756236T>A | CA392342917 | CEP152 | c.3012A>T (p.Gln1004His) c.2733A>T (p.Gln911His) c.1053A>T (p.Gln351His) c.1047A>T (p.Gln349His) n.3977A>T n.3963A>T | |
15 | g.48756236T>C | CA490311277 | CEP152 | c.3012A>G (p.Gln1004=) c.2733A>G (p.Gln911=) c.1053A>G (p.Gln351=) c.1047A>G (p.Gln349=) n.3977A>G n.3963A>G | gnomAD v4 |
15 | g.48756236T>G | CA392342918 | CEP152 | c.3012A>C (p.Gln1004His) c.2733A>C (p.Gln911His) c.1053A>C (p.Gln351His) c.1047A>C (p.Gln349His) n.3977A>C n.3963A>C | |
15 | g.48756236_48756238delinsTTG | CA2175628905 | CEP152 | c.3010_3012delinsCAA (p.Gln1004=) c.2731_2733delinsCAA (p.Gln911=) c.1051_1053delinsCAA (p.Gln351=) c.1045_1047delinsCAA (p.Gln349=) n.3975_3977delinsCAA n.3961_3963delinsCAA | |
15 | g.48756237T>A | CA392342919 | CEP152 | c.3011A>T (p.Gln1004Leu) c.2732A>T (p.Gln911Leu) c.1052A>T (p.Gln351Leu) c.1046A>T (p.Gln349Leu) n.3976A>T n.3962A>T | |
15 | g.48756237T>C | CA392342920 | CEP152 | c.3011A>G (p.Gln1004Arg) c.2732A>G (p.Gln911Arg) c.1052A>G (p.Gln351Arg) c.1046A>G (p.Gln349Arg) n.3976A>G n.3962A>G | |
15 | g.48756237T>G | CA392342921 | CEP152 | c.3011A>C (p.Gln1004Pro) c.2732A>C (p.Gln911Pro) c.1052A>C (p.Gln351Pro) c.1046A>C (p.Gln349Pro) n.3976A>C n.3962A>C | |
15 | g.48756238_48756239del | CA2175628909 | CEP152 | c.3010_3011del (p.Gln1004LysfsTer3) c.2731_2732del (p.Gln911LysfsTer3) c.1051_1052del (p.Gln351LysfsTer3) c.1045_1046del (p.Gln349LysfsTer3) n.3975_3976del n.3961_3962del | dbSNP |
15 | g.48756238G>A | CA392342922 | CEP152 | c.3010C>T (p.Gln1004Ter) c.2731C>T (p.Gln911Ter) c.1051C>T (p.Gln351Ter) c.1045C>T (p.Gln349Ter) n.3975C>T n.3961C>T | gnomAD v4 |
15 | g.48756238G>C | CA392342923 | CEP152 | c.3010C>G (p.Gln1004Glu) c.2731C>G (p.Gln911Glu) c.1051C>G (p.Gln351Glu) c.1045C>G (p.Gln349Glu) n.3975C>G n.3961C>G | |
15 | g.48756238G= | CA2175628912 | CEP152 | c.3010C= (p.Gln1004=) c.2731C= (p.Gln911=) c.1051C= (p.Gln351=) c.1045C= (p.Gln349=) n.3975C= n.3961C= | |
15 | g.48756238G>T | CA392342924 | CEP152 | c.3010C>A (p.Gln1004Lys) c.2731C>A (p.Gln911Lys) c.1051C>A (p.Gln351Lys) c.1045C>A (p.Gln349Lys) n.3975C>A n.3961C>A | dbSNP |
15 | g.48756239T>A | CA392342925 | CEP152 | c.3009A>T (p.Lys1003Asn) c.2730A>T (p.Lys910Asn) c.1050A>T (p.Lys350Asn) c.1044A>T (p.Lys348Asn) n.3974A>T n.3960A>T | |
15 | g.48756239T>C | CA490311278 | CEP152 | c.3009A>G (p.Lys1003=) c.2730A>G (p.Lys910=) c.1050A>G (p.Lys350=) c.1044A>G (p.Lys348=) n.3974A>G n.3960A>G | |
15 | g.48756239T>G | CA392342926 | CEP152 | c.3009A>C (p.Lys1003Asn) c.2730A>C (p.Lys910Asn) c.1050A>C (p.Lys350Asn) c.1044A>C (p.Lys348Asn) n.3974A>C n.3960A>C | |
15 | g.48756240T>A | CA392342929 | CEP152 | c.3008A>T (p.Lys1003Ile) c.2729A>T (p.Lys910Ile) c.1049A>T (p.Lys350Ile) c.1043A>T (p.Lys348Ile) n.3973A>T n.3959A>T | |
15 | g.48756240T>C | CA392342928 | CEP152 | c.3008A>G (p.Lys1003Arg) c.2729A>G (p.Lys910Arg) c.1049A>G (p.Lys350Arg) c.1043A>G (p.Lys348Arg) n.3973A>G n.3959A>G | |
15 | g.48756240T>G | CA392342927 | CEP152 | c.3008A>C (p.Lys1003Thr) c.2729A>C (p.Lys910Thr) c.1049A>C (p.Lys350Thr) c.1043A>C (p.Lys348Thr) n.3973A>C n.3959A>C | |
15 | g.48756241T>A | CA392342930 | CEP152 | c.3007A>T (p.Lys1003Ter) c.2728A>T (p.Lys910Ter) c.1048A>T (p.Lys350Ter) c.1042A>T (p.Lys348Ter) n.3972A>T n.3958A>T | |
15 | g.48756241T>C | CA392342931 | CEP152 | c.3007A>G (p.Lys1003Glu) c.2728A>G (p.Lys910Glu) c.1048A>G (p.Lys350Glu) c.1042A>G (p.Lys348Glu) n.3972A>G n.3958A>G | |
15 | g.48756241T>G | CA392342932 | CEP152 | c.3007A>C (p.Lys1003Gln) c.2728A>C (p.Lys910Gln) c.1048A>C (p.Lys350Gln) c.1042A>C (p.Lys348Gln) n.3972A>C n.3958A>C | gnomAD v4 |
15 | g.48756242C>A | CA392342933 | CEP152 | c.3006G>T (p.Met1002Ile) c.2727G>T (p.Met909Ile) c.1047G>T (p.Met349Ile) c.1041G>T (p.Met347Ile) n.3971G>T n.3957G>T | |
15 | g.48756242C>G | CA392342934 | CEP152 | c.3006G>C (p.Met1002Ile) c.2727G>C (p.Met909Ile) c.1047G>C (p.Met349Ile) c.1041G>C (p.Met347Ile) n.3971G>C n.3957G>C | |
15 | g.48756242C>T | CA392342935 | CEP152 | c.3006G>A (p.Met1002Ile) c.2727G>A (p.Met909Ile) c.1047G>A (p.Met349Ile) c.1041G>A (p.Met347Ile) n.3971G>A n.3957G>A | |
15 | g.48756243A>C | CA392342938 | CEP152 | c.3005T>G (p.Met1002Arg) c.2726T>G (p.Met909Arg) c.1046T>G (p.Met349Arg) c.1040T>G (p.Met347Arg) n.3970T>G n.3956T>G | |
15 | g.48756243A>G | CA392342937 | CEP152 | c.3005T>C (p.Met1002Thr) c.2726T>C (p.Met909Thr) c.1046T>C (p.Met349Thr) c.1040T>C (p.Met347Thr) n.3970T>C n.3956T>C | |
15 | g.48756243A>T | CA392342936 | CEP152 | c.3005T>A (p.Met1002Lys) c.2726T>A (p.Met909Lys) c.1046T>A (p.Met349Lys) c.1040T>A (p.Met347Lys) n.3970T>A n.3956T>A | |
15 | g.48756244T>A | CA392342939 | CEP152 | c.3004A>T (p.Met1002Leu) c.2725A>T (p.Met909Leu) c.1045A>T (p.Met349Leu) c.1039A>T (p.Met347Leu) n.3969A>T n.3955A>T | |
15 | g.48756244T>C | CA392342940 | CEP152 | c.3004A>G (p.Met1002Val) c.2725A>G (p.Met909Val) c.1045A>G (p.Met349Val) c.1039A>G (p.Met347Val) n.3969A>G n.3955A>G | dbSNP |
15 | g.48756244T>G | CA392342941 | CEP152 | c.3004A>C (p.Met1002Leu) c.2725A>C (p.Met909Leu) c.1045A>C (p.Met349Leu) c.1039A>C (p.Met347Leu) n.3969A>C n.3955A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756244T= | CA2175628915 | CEP152 | c.3004A= (p.Met1002=) c.2725A= (p.Met909=) c.1045A= (p.Met349=) c.1039A= (p.Met347=) n.3969A= n.3955A= | |
15 | g.48756245A= | CA2175628919 | CEP152 | c.3003T= (p.Phe1001=) c.2724T= (p.Phe908=) c.1044T= (p.Phe348=) c.1038T= (p.Phe346=) n.3968T= n.3954T= | |
15 | g.48756245A>C | CA392342942 | CEP152 | c.3003T>G (p.Phe1001Leu) c.2724T>G (p.Phe908Leu) c.1044T>G (p.Phe348Leu) c.1038T>G (p.Phe346Leu) n.3968T>G n.3954T>G | |
15 | g.48756245A>G | CA7548431 | CEP152 | c.3003T>C (p.Phe1001=) c.2724T>C (p.Phe908=) c.1044T>C (p.Phe348=) c.1038T>C (p.Phe346=) n.3968T>C n.3954T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756245A>T | CA392342943 | CEP152 | c.3003T>A (p.Phe1001Leu) c.2724T>A (p.Phe908Leu) c.1044T>A (p.Phe348Leu) c.1038T>A (p.Phe346Leu) n.3968T>A n.3954T>A | |
15 | g.48756246A>C | CA392342946 | CEP152 | c.3002T>G (p.Phe1001Cys) c.2723T>G (p.Phe908Cys) c.1043T>G (p.Phe348Cys) c.1037T>G (p.Phe346Cys) n.3967T>G n.3953T>G | |
15 | g.48756246A>G | CA392342944 | CEP152 | c.3002T>C (p.Phe1001Ser) c.2723T>C (p.Phe908Ser) c.1043T>C (p.Phe348Ser) c.1037T>C (p.Phe346Ser) n.3967T>C n.3953T>C | |
15 | g.48756246A>T | CA392342945 | CEP152 | c.3002T>A (p.Phe1001Tyr) c.2723T>A (p.Phe908Tyr) c.1043T>A (p.Phe348Tyr) c.1037T>A (p.Phe346Tyr) n.3967T>A n.3953T>A | |
15 | g.48756247A= | CA2175628923 | CEP152 | c.3001T= (p.Phe1001=) c.2722T= (p.Phe908=) c.1042T= (p.Phe348=) c.1036T= (p.Phe346=) n.3966T= n.3952T= | |
15 | g.48756247A>C | CA392342947 | CEP152 | c.3001T>G (p.Phe1001Val) c.2722T>G (p.Phe908Val) c.1042T>G (p.Phe348Val) c.1036T>G (p.Phe346Val) n.3966T>G n.3952T>G | |
15 | g.48756247A>G | CA392342948 | CEP152 | c.3001T>C (p.Phe1001Leu) c.2722T>C (p.Phe908Leu) c.1042T>C (p.Phe348Leu) c.1036T>C (p.Phe346Leu) n.3966T>C n.3952T>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756247A>T | CA392342949 | CEP152 | c.3001T>A (p.Phe1001Ile) c.2722T>A (p.Phe908Ile) c.1042T>A (p.Phe348Ile) c.1036T>A (p.Phe346Ile) n.3966T>A n.3952T>A | |
15 | g.48756248G>A | CA490311279 | CEP152 | c.3000C>T (p.Asp1000=) c.2721C>T (p.Asp907=) c.1041C>T (p.Asp347=) c.1035C>T (p.Asp345=) n.3965C>T n.3951C>T | |
15 | g.48756248G>C | CA392342950 | CEP152 | c.3000C>G (p.Asp1000Glu) c.2721C>G (p.Asp907Glu) c.1041C>G (p.Asp347Glu) c.1035C>G (p.Asp345Glu) n.3965C>G n.3951C>G | |
15 | g.48756248G= | CA2175628925 | CEP152 | c.3000C= (p.Asp1000=) c.2721C= (p.Asp907=) c.1041C= (p.Asp347=) c.1035C= (p.Asp345=) n.3965C= n.3951C= | |
15 | g.48756248G>T | CA392342951 | CEP152 | c.3000C>A (p.Asp1000Glu) c.2721C>A (p.Asp907Glu) c.1041C>A (p.Asp347Glu) c.1035C>A (p.Asp345Glu) n.3965C>A n.3951C>A | dbSNP |
15 | g.48756249T>A | CA392342952 | CEP152 | c.2999A>T (p.Asp1000Val) c.2720A>T (p.Asp907Val) c.1040A>T (p.Asp347Val) c.1034A>T (p.Asp345Val) n.3964A>T n.3950A>T | |
15 | g.48756249T>C | CA392342953 | CEP152 | c.2999A>G (p.Asp1000Gly) c.2720A>G (p.Asp907Gly) c.1040A>G (p.Asp347Gly) c.1034A>G (p.Asp345Gly) n.3964A>G n.3950A>G | |
15 | g.48756249T>G | CA392342954 | CEP152 | c.2999A>C (p.Asp1000Ala) c.2720A>C (p.Asp907Ala) c.1040A>C (p.Asp347Ala) c.1034A>C (p.Asp345Ala) n.3964A>C n.3950A>C | |
15 | g.48756253_48756255del | CA2628343493 | CEP152 | c.2997_2999del (p.Glu999del) c.2718_2720del (p.Glu906del) c.1038_1040del (p.Glu346del) c.1032_1034del (p.Glu344del) n.3962_3964del n.3948_3950del | gnomAD v4 |
15 | g.48756250C>A | CA392342955 | CEP152 | c.2998G>T (p.Asp1000Tyr) c.2719G>T (p.Asp907Tyr) c.1039G>T (p.Asp347Tyr) c.1033G>T (p.Asp345Tyr) n.3963G>T n.3949G>T | |
15 | g.48756250C= | CA2175628927 | CEP152 | c.2998G= (p.Asp1000=) c.2719G= (p.Asp907=) c.1039G= (p.Asp347=) c.1033G= (p.Asp345=) n.3963G= n.3949G= | |
15 | g.48756250C>G | CA392342956 | CEP152 | c.2998G>C (p.Asp1000His) c.2719G>C (p.Asp907His) c.1039G>C (p.Asp347His) c.1033G>C (p.Asp345His) n.3963G>C n.3949G>C | |
15 | g.48756250C>T | CA7548432 | CEP152 | c.2998G>A (p.Asp1000Asn) c.2719G>A (p.Asp907Asn) c.1039G>A (p.Asp347Asn) c.1033G>A (p.Asp345Asn) n.3963G>A n.3949G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756251T>A | CA392342957 | CEP152 | c.2997A>T (p.Glu999Asp) c.2718A>T (p.Glu906Asp) c.1038A>T (p.Glu346Asp) c.1032A>T (p.Glu344Asp) n.3962A>T n.3948A>T | |
15 | g.48756251T>C | CA490311280 | CEP152 | c.2997A>G (p.Glu999=) c.2718A>G (p.Glu906=) c.1038A>G (p.Glu346=) c.1032A>G (p.Glu344=) n.3962A>G n.3948A>G | |
15 | g.48756251T>G | CA392342958 | CEP152 | c.2997A>C (p.Glu999Asp) c.2718A>C (p.Glu906Asp) c.1038A>C (p.Glu346Asp) c.1032A>C (p.Glu344Asp) n.3962A>C n.3948A>C | |
15 | g.48756252T>A | CA392342959 | CEP152 | c.2996A>T (p.Glu999Val) c.2717A>T (p.Glu906Val) c.1037A>T (p.Glu346Val) c.1031A>T (p.Glu344Val) n.3961A>T n.3947A>T | |
15 | g.48756252T>C | CA392342961 | CEP152 | c.2996A>G (p.Glu999Gly) c.2717A>G (p.Glu906Gly) c.1037A>G (p.Glu346Gly) c.1031A>G (p.Glu344Gly) n.3961A>G n.3947A>G | |
15 | g.48756252T>G | CA392342960 | CEP152 | c.2996A>C (p.Glu999Ala) c.2717A>C (p.Glu906Ala) c.1037A>C (p.Glu346Ala) c.1031A>C (p.Glu344Ala) n.3961A>C n.3947A>C | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756252T= | CA2175628929 | CEP152 | c.2996A= (p.Glu999=) c.2717A= (p.Glu906=) c.1037A= (p.Glu346=) c.1031A= (p.Glu344=) n.3961A= n.3947A= | |
15 | g.48756253C>A | CA392342962 | CEP152 | c.2995G>T (p.Glu999Ter) c.2716G>T (p.Glu906Ter) c.1036G>T (p.Glu346Ter) c.1030G>T (p.Glu344Ter) n.3960G>T n.3946G>T | |
15 | g.48756253C>G | CA392342963 | CEP152 | c.2995G>C (p.Glu999Gln) c.2716G>C (p.Glu906Gln) c.1036G>C (p.Glu346Gln) c.1030G>C (p.Glu344Gln) n.3960G>C n.3946G>C | gnomAD v4 |
15 | g.48756253C>T | CA392342964 | CEP152 | c.2995G>A (p.Glu999Lys) c.2716G>A (p.Glu906Lys) c.1036G>A (p.Glu346Lys) c.1030G>A (p.Glu344Lys) n.3960G>A n.3946G>A | |
15 | g.48756254T>A | CA392342965 | CEP152 | c.2994A>T (p.Lys998Asn) c.2715A>T (p.Lys905Asn) c.1035A>T (p.Lys345Asn) c.1029A>T (p.Lys343Asn) n.3959A>T n.3945A>T | |
15 | g.48756254T>C | CA490311281 | CEP152 | c.2994A>G (p.Lys998=) c.2715A>G (p.Lys905=) c.1035A>G (p.Lys345=) c.1029A>G (p.Lys343=) n.3959A>G n.3945A>G | gnomAD v4 |
15 | g.48756254T>G | CA392342966 | CEP152 | c.2994A>C (p.Lys998Asn) c.2715A>C (p.Lys905Asn) c.1035A>C (p.Lys345Asn) c.1029A>C (p.Lys343Asn) n.3959A>C n.3945A>C | |
15 | g.48756255T>A | CA392342969 | CEP152 | c.2993A>T (p.Lys998Ile) c.2714A>T (p.Lys905Ile) c.1034A>T (p.Lys345Ile) c.1028A>T (p.Lys343Ile) n.3958A>T n.3944A>T | |
15 | g.48756255T>C | CA392342968 | CEP152 | c.2993A>G (p.Lys998Arg) c.2714A>G (p.Lys905Arg) c.1034A>G (p.Lys345Arg) c.1028A>G (p.Lys343Arg) n.3958A>G n.3944A>G | |
15 | g.48756255T>G | CA392342967 | CEP152 | c.2993A>C (p.Lys998Thr) c.2714A>C (p.Lys905Thr) c.1034A>C (p.Lys345Thr) c.1028A>C (p.Lys343Thr) n.3958A>C n.3944A>C | |
15 | g.48756256T>A | CA392342970 | CEP152 | c.2992A>T (p.Lys998Ter) c.2713A>T (p.Lys905Ter) c.1033A>T (p.Lys345Ter) c.1027A>T (p.Lys343Ter) n.3957A>T n.3943A>T | |
15 | g.48756256T>C | CA392342971 | CEP152 | c.2992A>G (p.Lys998Glu) c.2713A>G (p.Lys905Glu) c.1033A>G (p.Lys345Glu) c.1027A>G (p.Lys343Glu) n.3957A>G n.3943A>G | gnomAD v4 |
15 | g.48756256T>G | CA392342972 | CEP152 | c.2992A>C (p.Lys998Gln) c.2713A>C (p.Lys905Gln) c.1033A>C (p.Lys345Gln) c.1027A>C (p.Lys343Gln) n.3957A>C n.3943A>C | |
15 | g.48756257A>C | CA490311282 | CEP152 | c.2991T>G (p.Ala997=) c.2712T>G (p.Ala904=) c.1032T>G (p.Ala344=) c.1026T>G (p.Ala342=) n.3956T>G n.3942T>G | |
15 | g.48756257A>G | CA490311283 | CEP152 | c.2991T>C (p.Ala997=) c.2712T>C (p.Ala904=) c.1032T>C (p.Ala344=) c.1026T>C (p.Ala342=) n.3956T>C n.3942T>C | gnomAD v4 |
15 | g.48756257A>T | CA490311284 | CEP152 | c.2991T>A (p.Ala997=) c.2712T>A (p.Ala904=) c.1032T>A (p.Ala344=) c.1026T>A (p.Ala342=) n.3956T>A n.3942T>A | |
15 | g.48756258G>A | CA392342973 | CEP152 | c.2990C>T (p.Ala997Val) c.2711C>T (p.Ala904Val) c.1031C>T (p.Ala344Val) c.1025C>T (p.Ala342Val) n.3955C>T n.3941C>T | |
15 | g.48756258G>C | CA392342974 | CEP152 | c.2990C>G (p.Ala997Gly) c.2711C>G (p.Ala904Gly) c.1031C>G (p.Ala344Gly) c.1025C>G (p.Ala342Gly) n.3955C>G n.3941C>G | dbSNP gnomAD v2 |
15 | g.48756258G= | CA2175628931 | CEP152 | c.2990C= (p.Ala997=) c.2711C= (p.Ala904=) c.1031C= (p.Ala344=) c.1025C= (p.Ala342=) n.3955C= n.3941C= | |
15 | g.48756258G>T | CA392342975 | CEP152 | c.2990C>A (p.Ala997Asp) c.2711C>A (p.Ala904Asp) c.1031C>A (p.Ala344Asp) c.1025C>A (p.Ala342Asp) n.3955C>A n.3941C>A | |
15 | g.48756259C>A | CA392342976 | CEP152 | c.2989G>T (p.Ala997Ser) c.2710G>T (p.Ala904Ser) c.1030G>T (p.Ala344Ser) c.1024G>T (p.Ala342Ser) n.3954G>T n.3940G>T | |
15 | g.48756259C>G | CA392342978 | CEP152 | c.2989G>C (p.Ala997Pro) c.2710G>C (p.Ala904Pro) c.1030G>C (p.Ala344Pro) c.1024G>C (p.Ala342Pro) n.3954G>C n.3940G>C | |
15 | g.48756259C>T | CA392342977 | CEP152 | c.2989G>A (p.Ala997Thr) c.2710G>A (p.Ala904Thr) c.1030G>A (p.Ala344Thr) c.1024G>A (p.Ala342Thr) n.3954G>A n.3940G>A | gnomAD v4 |
15 | g.48756260T>A | CA490311285 | CEP152 | c.2988A>T (p.Ala996=) c.2709A>T (p.Ala903=) c.1029A>T (p.Ala343=) c.1023A>T (p.Ala341=) n.3953A>T n.3939A>T | |
15 | g.48756260T>C | CA490311286 | CEP152 | c.2988A>G (p.Ala996=) c.2709A>G (p.Ala903=) c.1029A>G (p.Ala343=) c.1023A>G (p.Ala341=) n.3953A>G n.3939A>G | dbSNP |
15 | g.48756260T>G | CA490311287 | CEP152 | c.2988A>C (p.Ala996=) c.2709A>C (p.Ala903=) c.1029A>C (p.Ala343=) c.1023A>C (p.Ala341=) n.3953A>C n.3939A>C | |
15 | g.48756260T= | CA2175628933 | CEP152 | c.2988A= (p.Ala996=) c.2709A= (p.Ala903=) c.1029A= (p.Ala343=) c.1023A= (p.Ala341=) n.3953A= n.3939A= | |
15 | g.48756261G>A | CA392342979 | CEP152 | c.2987C>T (p.Ala996Val) c.2708C>T (p.Ala903Val) c.1028C>T (p.Ala343Val) c.1022C>T (p.Ala341Val) n.3952C>T n.3938C>T | gnomAD v4 |
15 | g.48756261G>C | CA392342980 | CEP152 | c.2987C>G (p.Ala996Gly) c.2708C>G (p.Ala903Gly) c.1028C>G (p.Ala343Gly) c.1022C>G (p.Ala341Gly) n.3952C>G n.3938C>G | |
15 | g.48756261G>T | CA392342981 | CEP152 | c.2987C>A (p.Ala996Glu) c.2708C>A (p.Ala903Glu) c.1028C>A (p.Ala343Glu) c.1022C>A (p.Ala341Glu) n.3952C>A n.3938C>A | |
15 | g.48756262C>A | CA392342982 | CEP152 | c.2986G>T (p.Ala996Ser) c.2707G>T (p.Ala903Ser) c.1027G>T (p.Ala343Ser) c.1021G>T (p.Ala341Ser) n.3951G>T n.3937G>T | |
15 | g.48756262C= | CA2175628937 | CEP152 | c.2986G= (p.Ala996=) c.2707G= (p.Ala903=) c.1027G= (p.Ala343=) c.1021G= (p.Ala341=) n.3951G= n.3937G= | |
15 | g.48756262C>G | CA392342983 | CEP152 | c.2986G>C (p.Ala996Pro) c.2707G>C (p.Ala903Pro) c.1027G>C (p.Ala343Pro) c.1021G>C (p.Ala341Pro) n.3951G>C n.3937G>C | |
15 | g.48756262C>T | CA392342984 | CEP152 | c.2986G>A (p.Ala996Thr) c.2707G>A (p.Ala903Thr) c.1027G>A (p.Ala343Thr) c.1021G>A (p.Ala341Thr) n.3951G>A n.3937G>A | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756263del | CA2628343494 | CEP152 | c.2986del (p.Ala996GlnfsTer7) c.2707del (p.Ala903GlnfsTer7) c.1027del (p.Ala343GlnfsTer7) c.1021del (p.Ala341GlnfsTer7) n.3951del n.3937del | gnomAD v4 |
15 | g.48756263C>A | CA171719 | CEP152 | c.2985G>T (p.Ala995=) c.2706G>T (p.Ala902=) c.1026G>T (p.Ala342=) c.1020G>T (p.Ala340=) n.3950G>T n.3936G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756263C= | CA2175628943 | CEP152 | c.2985G= (p.Ala995=) c.2706G= (p.Ala902=) c.1026G= (p.Ala342=) c.1020G= (p.Ala340=) n.3950G= n.3936G= | |
15 | g.48756263C>G | CA490311288 | CEP152 | c.2985G>C (p.Ala995=) c.2706G>C (p.Ala902=) c.1026G>C (p.Ala342=) c.1020G>C (p.Ala340=) n.3950G>C n.3936G>C | |
15 | g.48756263C>T | CA7548433 | CEP152 | c.2985G>A (p.Ala995=) c.2706G>A (p.Ala902=) c.1026G>A (p.Ala342=) c.1020G>A (p.Ala340=) n.3950G>A n.3936G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756264G>A | CA7548434 | CEP152 | c.2984C>T (p.Ala995Val) c.2705C>T (p.Ala902Val) c.1025C>T (p.Ala342Val) c.1019C>T (p.Ala340Val) n.3949C>T n.3935C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.48756264G>C | CA392342985 | CEP152 | c.2984C>G (p.Ala995Gly) c.2705C>G (p.Ala902Gly) c.1025C>G (p.Ala342Gly) c.1019C>G (p.Ala340Gly) n.3949C>G n.3935C>G | gnomAD v4 |
15 | g.48756264G= | CA2175628952 | CEP152 | c.2984C= (p.Ala995=) c.2705C= (p.Ala902=) c.1025C= (p.Ala342=) c.1019C= (p.Ala340=) n.3949C= n.3935C= | |
15 | g.48756264G>T | CA392342986 | CEP152 | c.2984C>A (p.Ala995Glu) c.2705C>A (p.Ala902Glu) c.1025C>A (p.Ala342Glu) c.1019C>A (p.Ala340Glu) n.3949C>A n.3935C>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756265C>A | CA392342987 | CEP152 | c.2983G>T (p.Ala995Ser) c.2704G>T (p.Ala902Ser) c.1024G>T (p.Ala342Ser) c.1018G>T (p.Ala340Ser) n.3948G>T n.3934G>T | |
15 | g.48756265C= | CA2175628958 | CEP152 | c.2983G= (p.Ala995=) c.2704G= (p.Ala902=) c.1024G= (p.Ala342=) c.1018G= (p.Ala340=) n.3948G= n.3934G= | |
15 | g.48756265C>G | CA392342989 | CEP152 | c.2983G>C (p.Ala995Pro) c.2704G>C (p.Ala902Pro) c.1024G>C (p.Ala342Pro) c.1018G>C (p.Ala340Pro) n.3948G>C n.3934G>C | |
15 | g.48756265C>T | CA392342988 | CEP152 | c.2983G>A (p.Ala995Thr) c.2704G>A (p.Ala902Thr) c.1024G>A (p.Ala342Thr) c.1018G>A (p.Ala340Thr) n.3948G>A n.3934G>A | dbSNP |
15 | g.48756265dup | CA7548435 | CEP152 | c.2983dup (p.Ala995GlyfsTer4) c.2704dup (p.Ala902GlyfsTer4) c.1024dup (p.Ala342GlyfsTer4) c.1018dup (p.Ala340GlyfsTer4) n.3948dup n.3934dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756266A>C | CA490311289 | CEP152 | c.2982T>G (p.Leu994=) c.2703T>G (p.Leu901=) c.1023T>G (p.Leu341=) c.1017T>G (p.Leu339=) n.3947T>G n.3933T>G | |
15 | g.48756266A>G | CA490311290 | CEP152 | c.2982T>C (p.Leu994=) c.2703T>C (p.Leu901=) c.1023T>C (p.Leu341=) c.1017T>C (p.Leu339=) n.3947T>C n.3933T>C | |
15 | g.48756266A>T | CA490311291 | CEP152 | c.2982T>A (p.Leu994=) c.2703T>A (p.Leu901=) c.1023T>A (p.Leu341=) c.1017T>A (p.Leu339=) n.3947T>A n.3933T>A | |
15 | g.48756267A= | CA2175628962 | CEP152 | c.2981T= (p.Leu994=) c.2702T= (p.Leu901=) c.1022T= (p.Leu341=) c.1016T= (p.Leu339=) n.3946T= n.3932T= | |
15 | g.48756267A>C | CA392342990 | CEP152 | c.2981T>G (p.Leu994Arg) c.2702T>G (p.Leu901Arg) c.1022T>G (p.Leu341Arg) c.1016T>G (p.Leu339Arg) n.3946T>G n.3932T>G | |
15 | g.48756267A>G | CA7548436 | CEP152 | c.2981T>C (p.Leu994Pro) c.2702T>C (p.Leu901Pro) c.1022T>C (p.Leu341Pro) c.1016T>C (p.Leu339Pro) n.3946T>C n.3932T>C | dbSNP ExAC |
15 | g.48756267A>T | CA392342991 | CEP152 | c.2981T>A (p.Leu994His) c.2702T>A (p.Leu901His) c.1022T>A (p.Leu341His) c.1016T>A (p.Leu339His) n.3946T>A n.3932T>A | |
15 | g.48756268G>A | CA392342992 | CEP152 | c.2980C>T (p.Leu994Phe) c.2701C>T (p.Leu901Phe) c.1021C>T (p.Leu341Phe) c.1015C>T (p.Leu339Phe) n.3945C>T n.3931C>T | dbSNP |
15 | g.48756268G>C | CA392342993 | CEP152 | c.2980C>G (p.Leu994Val) c.2701C>G (p.Leu901Val) c.1021C>G (p.Leu341Val) c.1015C>G (p.Leu339Val) n.3945C>G n.3931C>G | |
15 | g.48756268G= | CA2175628965 | CEP152 | c.2980C= (p.Leu994=) c.2701C= (p.Leu901=) c.1021C= (p.Leu341=) c.1015C= (p.Leu339=) n.3945C= n.3931C= | |
15 | g.48756268G>T | CA392342994 | CEP152 | c.2980C>A (p.Leu994Ile) c.2701C>A (p.Leu901Ile) c.1021C>A (p.Leu341Ile) c.1015C>A (p.Leu339Ile) n.3945C>A n.3931C>A | |
15 | g.48756269C>A | CA490311292 | CEP152 | c.2979G>T (p.Val993=) c.2700G>T (p.Val900=) c.1020G>T (p.Val340=) c.1014G>T (p.Val338=) n.3944G>T n.3930G>T | |
15 | g.48756269C>G | CA490311293 | CEP152 | c.2979G>C (p.Val993=) c.2700G>C (p.Val900=) c.1020G>C (p.Val340=) c.1014G>C (p.Val338=) n.3944G>C n.3930G>C | |
15 | g.48756269C>T | CA490311294 | CEP152 | c.2979G>A (p.Val993=) c.2700G>A (p.Val900=) c.1020G>A (p.Val340=) c.1014G>A (p.Val338=) n.3944G>A n.3930G>A | |
15 | g.48756270A>C | CA392342995 | CEP152 | c.2978T>G (p.Val993Gly) c.2699T>G (p.Val900Gly) c.1019T>G (p.Val340Gly) c.1013T>G (p.Val338Gly) n.3943T>G n.3929T>G | |
15 | g.48756270A>G | CA392342996 | CEP152 | c.2978T>C (p.Val993Ala) c.2699T>C (p.Val900Ala) c.1019T>C (p.Val340Ala) c.1013T>C (p.Val338Ala) n.3943T>C n.3929T>C | |
15 | g.48756270A>T | CA392342997 | CEP152 | c.2978T>A (p.Val993Glu) c.2699T>A (p.Val900Glu) c.1019T>A (p.Val340Glu) c.1013T>A (p.Val338Glu) n.3943T>A n.3929T>A | |
15 | g.48756271C>A | CA392342998 | CEP152 | c.2977G>T (p.Val993Leu) c.2698G>T (p.Val900Leu) c.1018G>T (p.Val340Leu) c.1012G>T (p.Val338Leu) n.3942G>T n.3928G>T | |
15 | g.48756271C= | CA2175628969 | CEP152 | c.2977G= (p.Val993=) c.2698G= (p.Val900=) c.1018G= (p.Val340=) c.1012G= (p.Val338=) n.3942G= n.3928G= | |
15 | g.48756271C>G | CA392342999 | CEP152 | c.2977G>C (p.Val993Leu) c.2698G>C (p.Val900Leu) c.1018G>C (p.Val340Leu) c.1012G>C (p.Val338Leu) n.3942G>C n.3928G>C | |
15 | g.48756271C>T | CA392343000 | CEP152 | c.2977G>A (p.Val993Met) c.2698G>A (p.Val900Met) c.1018G>A (p.Val340Met) c.1012G>A (p.Val338Met) n.3942G>A n.3928G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756272C>A | CA392343001 | CEP152 | c.2976G>T (p.Glu992Asp) c.2697G>T (p.Glu899Asp) c.1017G>T (p.Glu339Asp) c.1011G>T (p.Glu337Asp) n.3941G>T n.3927G>T | |
15 | g.48756272C>G | CA392343002 | CEP152 | c.2976G>C (p.Glu992Asp) c.2697G>C (p.Glu899Asp) c.1017G>C (p.Glu339Asp) c.1011G>C (p.Glu337Asp) n.3941G>C n.3927G>C | |
15 | g.48756272C>T | CA490311296 | CEP152 | c.2976G>A (p.Glu992=) c.2697G>A (p.Glu899=) c.1017G>A (p.Glu339=) c.1011G>A (p.Glu337=) n.3941G>A n.3927G>A | gnomAD v4 |
15 | g.48756272_48756273insCCCCACCCAAACACACCCAAC | CA2804077935 | CEP152 | c.2976_2977insTTGGGTGTGTTTGGGTGGGGG (p.Glu992_Val993insLeuGlyValPheGlyTrpGly) c.2697_2698insTTGGGTGTGTTTGGGTGGGGG (p.Glu899_Val900insLeuGlyValPheGlyTrpGly) c.1017_1018insTTGGGTGTGTTTGGGTGGGGG (p.Glu339_Val340insLeuGlyValPheGlyTrpGly) c.1011_1012insTTGGGTGTGTTTGGGTGGGGG (p.Glu337_Val338insLeuGlyValPheGlyTrpGly) n.3941_3942insTTGGGTGTGTTTGGGTGGGGG n.3927_3928insTTGGGTGTGTTTGGGTGGGGG | |
15 | g.48756273T>A | CA392343005 | CEP152 | c.2975A>T (p.Glu992Val) c.2696A>T (p.Glu899Val) c.1016A>T (p.Glu339Val) c.1010A>T (p.Glu337Val) n.3940A>T n.3926A>T | |
15 | g.48756273T>C | CA392343004 | CEP152 | c.2975A>G (p.Glu992Gly) c.2696A>G (p.Glu899Gly) c.1016A>G (p.Glu339Gly) c.1010A>G (p.Glu337Gly) n.3940A>G n.3926A>G | |
15 | g.48756273T>G | CA392343003 | CEP152 | c.2975A>C (p.Glu992Ala) c.2696A>C (p.Glu899Ala) c.1016A>C (p.Glu339Ala) c.1010A>C (p.Glu337Ala) n.3940A>C n.3926A>C | |
15 | g.48756274C>A | CA392343006 | CEP152 | c.2974G>T (p.Glu992Ter) c.2695G>T (p.Glu899Ter) c.1015G>T (p.Glu339Ter) c.1009G>T (p.Glu337Ter) n.3939G>T n.3925G>T | |
15 | g.48756274C>G | CA392343007 | CEP152 | c.2974G>C (p.Glu992Gln) c.2695G>C (p.Glu899Gln) c.1015G>C (p.Glu339Gln) c.1009G>C (p.Glu337Gln) n.3939G>C n.3925G>C | |
15 | g.48756274C>T | CA392343008 | CEP152 | c.2974G>A (p.Glu992Lys) c.2695G>A (p.Glu899Lys) c.1015G>A (p.Glu339Lys) c.1009G>A (p.Glu337Lys) n.3939G>A n.3925G>A | |
15 | g.48756275A= | CA2175628972 | CEP152 | c.2973T= (p.Asn991=) c.2694T= (p.Asn898=) c.1014T= (p.Asn338=) c.1008T= (p.Asn336=) n.3938T= n.3924T= | |
15 | g.48756275A>C | CA392343009 | CEP152 | c.2973T>G (p.Asn991Lys) c.2694T>G (p.Asn898Lys) c.1014T>G (p.Asn338Lys) c.1008T>G (p.Asn336Lys) n.3938T>G n.3924T>G | |
15 | g.48756275A>G | CA490311298 | CEP152 | c.2973T>C (p.Asn991=) c.2694T>C (p.Asn898=) c.1014T>C (p.Asn338=) c.1008T>C (p.Asn336=) n.3938T>C n.3924T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756275A>T | CA392343010 | CEP152 | c.2973T>A (p.Asn991Lys) c.2694T>A (p.Asn898Lys) c.1014T>A (p.Asn338Lys) c.1008T>A (p.Asn336Lys) n.3938T>A n.3924T>A | |
15 | g.48756276T>A | CA392343011 | CEP152 | c.2972A>T (p.Asn991Ile) c.2693A>T (p.Asn898Ile) c.1013A>T (p.Asn338Ile) c.1007A>T (p.Asn336Ile) n.3937A>T n.3923A>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.48756276T>C | CA392343012 | CEP152 | c.2972A>G (p.Asn991Ser) c.2693A>G (p.Asn898Ser) c.1013A>G (p.Asn338Ser) c.1007A>G (p.Asn336Ser) n.3937A>G n.3923A>G | gnomAD v4 |
15 | g.48756276T>G | CA392343013 | CEP152 | c.2972A>C (p.Asn991Thr) c.2693A>C (p.Asn898Thr) c.1013A>C (p.Asn338Thr) c.1007A>C (p.Asn336Thr) n.3937A>C n.3923A>C | |
15 | g.48756276T= | CA2175628974 | CEP152 | c.2972A= (p.Asn991=) c.2693A= (p.Asn898=) c.1013A= (p.Asn338=) c.1007A= (p.Asn336=) n.3937A= n.3923A= | |
15 | g.48756277del | CA2628343495 | CEP152 | c.2972del (p.Asn991MetfsTer12) c.2693del (p.Asn898MetfsTer12) c.1013del (p.Asn338MetfsTer12) c.1007del (p.Asn336MetfsTer12) n.3937del n.3923del | gnomAD v4 |
15 | g.48756277T>A | CA392343014 | CEP152 | c.2971A>T (p.Asn991Tyr) c.2692A>T (p.Asn898Tyr) c.1012A>T (p.Asn338Tyr) c.1006A>T (p.Asn336Tyr) n.3936A>T n.3922A>T | dbSNP |
15 | g.48756277T>C | CA392343015 | CEP152 | c.2971A>G (p.Asn991Asp) c.2692A>G (p.Asn898Asp) c.1012A>G (p.Asn338Asp) c.1006A>G (p.Asn336Asp) n.3936A>G n.3922A>G | |
15 | g.48756277T>G | CA392343016 | CEP152 | c.2971A>C (p.Asn991His) c.2692A>C (p.Asn898His) c.1012A>C (p.Asn338His) c.1006A>C (p.Asn336His) n.3936A>C n.3922A>C | |
15 | g.48756277T= | CA2175628978 | CEP152 | c.2971A= (p.Asn991=) c.2692A= (p.Asn898=) c.1012A= (p.Asn338=) c.1006A= (p.Asn336=) n.3936A= n.3922A= | |
15 | g.48756278A>C | CA392343017 | CEP152 | c.2970T>G (p.Ile990Met) c.2691T>G (p.Ile897Met) c.1011T>G (p.Ile337Met) c.1005T>G (p.Ile335Met) n.3935T>G n.3921T>G | |
15 | g.48756278A>G | CA490311299 | CEP152 | c.2970T>C (p.Ile990=) c.2691T>C (p.Ile897=) c.1011T>C (p.Ile337=) c.1005T>C (p.Ile335=) n.3935T>C n.3921T>C | |
15 | g.48756278A>T | CA490311300 | CEP152 | c.2970T>A (p.Ile990=) c.2691T>A (p.Ile897=) c.1011T>A (p.Ile337=) c.1005T>A (p.Ile335=) n.3935T>A n.3921T>A | |
15 | g.48756279A>C | CA392343020 | CEP152 | c.2969T>G (p.Ile990Ser) c.2690T>G (p.Ile897Ser) c.1010T>G (p.Ile337Ser) c.1004T>G (p.Ile335Ser) n.3934T>G n.3920T>G | |
15 | g.48756279A>G | CA392343019 | CEP152 | c.2969T>C (p.Ile990Thr) c.2690T>C (p.Ile897Thr) c.1010T>C (p.Ile337Thr) c.1004T>C (p.Ile335Thr) n.3934T>C n.3920T>C | gnomAD v4 |
15 | g.48756279A>T | CA392343018 | CEP152 | c.2969T>A (p.Ile990Asn) c.2690T>A (p.Ile897Asn) c.1010T>A (p.Ile337Asn) c.1004T>A (p.Ile335Asn) n.3934T>A n.3920T>A | |
15 | g.48756280T>A | CA392343021 | CEP152 | c.2968A>T (p.Ile990Phe) c.2689A>T (p.Ile897Phe) c.1009A>T (p.Ile337Phe) c.1003A>T (p.Ile335Phe) n.3933A>T n.3919A>T | |
15 | g.48756280T>C | CA269537915 | CEP152 | c.2968A>G (p.Ile990Val) c.2689A>G (p.Ile897Val) c.1009A>G (p.Ile337Val) c.1003A>G (p.Ile335Val) n.3933A>G n.3919A>G | dbSNP |
15 | g.48756280T>G | CA392343022 | CEP152 | c.2968A>C (p.Ile990Leu) c.2689A>C (p.Ile897Leu) c.1009A>C (p.Ile337Leu) c.1003A>C (p.Ile335Leu) n.3933A>C n.3919A>C | |
15 | g.48756280T= | CA2175628985 | CEP152 | c.2968A= (p.Ile990=) c.2689A= (p.Ile897=) c.1009A= (p.Ile337=) c.1003A= (p.Ile335=) n.3933A= n.3919A= | |
15 | g.48756281T>A | CA392343023 | CEP152 | c.2967A>T (p.Lys989Asn) c.2688A>T (p.Lys896Asn) c.1008A>T (p.Lys336Asn) c.1002A>T (p.Lys334Asn) n.3932A>T n.3918A>T | |
15 | g.48756281T>C | CA7548437 | CEP152 | c.2967A>G (p.Lys989=) c.2688A>G (p.Lys896=) c.1008A>G (p.Lys336=) c.1002A>G (p.Lys334=) n.3932A>G n.3918A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756281T>G | CA392343024 | CEP152 | c.2967A>C (p.Lys989Asn) c.2688A>C (p.Lys896Asn) c.1008A>C (p.Lys336Asn) c.1002A>C (p.Lys334Asn) n.3932A>C n.3918A>C | |
15 | g.48756281T= | CA2175628989 | CEP152 | c.2967A= (p.Lys989=) c.2688A= (p.Lys896=) c.1008A= (p.Lys336=) c.1002A= (p.Lys334=) n.3932A= n.3918A= | |
15 | g.48756282T>A | CA392343025 | CEP152 | c.2966A>T (p.Lys989Ile) c.2687A>T (p.Lys896Ile) c.1007A>T (p.Lys336Ile) c.1001A>T (p.Lys334Ile) n.3931A>T n.3917A>T | |
15 | g.48756282T>C | CA392343026 | CEP152 | c.2966A>G (p.Lys989Arg) c.2687A>G (p.Lys896Arg) c.1007A>G (p.Lys336Arg) c.1001A>G (p.Lys334Arg) n.3931A>G n.3917A>G | |
15 | g.48756282T>G | CA392343027 | CEP152 | c.2966A>C (p.Lys989Thr) c.2687A>C (p.Lys896Thr) c.1007A>C (p.Lys336Thr) c.1001A>C (p.Lys334Thr) n.3931A>C n.3917A>C | |
15 | g.48756284_48756286dup | CA2628343496 | CEP152 | c.2964_2966dup (p.Asn988_Lys989insAsn) c.2685_2687dup (p.Asn895_Lys896insAsn) c.1005_1007dup (p.Asn335_Lys336insAsn) c.999_1001dup (p.Asn333_Lys334insAsn) n.3929_3931dup n.3915_3917dup | gnomAD v4 |
15 | g.48756283T>A | CA392343028 | CEP152 | c.2965A>T (p.Lys989Ter) c.2686A>T (p.Lys896Ter) c.1006A>T (p.Lys336Ter) c.1000A>T (p.Lys334Ter) n.3930A>T n.3916A>T | |
15 | g.48756283T>C | CA392343029 | CEP152 | c.2965A>G (p.Lys989Glu) c.2686A>G (p.Lys896Glu) c.1006A>G (p.Lys336Glu) c.1000A>G (p.Lys334Glu) n.3930A>G n.3916A>G | |
15 | g.48756283T>G | CA392343030 | CEP152 | c.2965A>C (p.Lys989Gln) c.2686A>C (p.Lys896Gln) c.1006A>C (p.Lys336Gln) c.1000A>C (p.Lys334Gln) n.3930A>C n.3916A>C | dbSNP |
15 | g.48756283T= | CA2175628992 | CEP152 | c.2965A= (p.Lys989=) c.2686A= (p.Lys896=) c.1006A= (p.Lys336=) c.1000A= (p.Lys334=) n.3930A= n.3916A= | |
15 | g.48756284A>C | CA392343032 | CEP152 | c.2964T>G (p.Asn988Lys) c.2685T>G (p.Asn895Lys) c.1005T>G (p.Asn335Lys) c.999T>G (p.Asn333Lys) n.3929T>G n.3915T>G | |
15 | g.48756284A>G | CA490311301 | CEP152 | c.2964T>C (p.Asn988=) c.2685T>C (p.Asn895=) c.1005T>C (p.Asn335=) c.999T>C (p.Asn333=) n.3929T>C n.3915T>C | |
15 | g.48756284A>T | CA392343031 | CEP152 | c.2964T>A (p.Asn988Lys) c.2685T>A (p.Asn895Lys) c.1005T>A (p.Asn335Lys) c.999T>A (p.Asn333Lys) n.3929T>A n.3915T>A | |
15 | g.48756285T>A | CA392343033 | CEP152 | c.2963A>T (p.Asn988Ile) c.2684A>T (p.Asn895Ile) c.1004A>T (p.Asn335Ile) c.998A>T (p.Asn333Ile) n.3928A>T n.3914A>T | |
15 | g.48756285T>C | CA392343034 | CEP152 | c.2963A>G (p.Asn988Ser) c.2684A>G (p.Asn895Ser) c.1004A>G (p.Asn335Ser) c.998A>G (p.Asn333Ser) n.3928A>G n.3914A>G | gnomAD v4 |
15 | g.48756285T>G | CA392343035 | CEP152 | c.2963A>C (p.Asn988Thr) c.2684A>C (p.Asn895Thr) c.1004A>C (p.Asn335Thr) c.998A>C (p.Asn333Thr) n.3928A>C n.3914A>C | |
15 | g.48756286T>A | CA392343036 | CEP152 | c.2962A>T (p.Asn988Tyr) c.2683A>T (p.Asn895Tyr) c.1003A>T (p.Asn335Tyr) c.997A>T (p.Asn333Tyr) n.3927A>T n.3913A>T | |
15 | g.48756286T>C | CA392343037 | CEP152 | c.2962A>G (p.Asn988Asp) c.2683A>G (p.Asn895Asp) c.1003A>G (p.Asn335Asp) c.997A>G (p.Asn333Asp) n.3927A>G n.3913A>G | |
15 | g.48756286T>G | CA392343038 | CEP152 | c.2962A>C (p.Asn988His) c.2683A>C (p.Asn895His) c.1003A>C (p.Asn335His) c.997A>C (p.Asn333His) n.3927A>C n.3913A>C | |
15 | g.48756287T>A | CA490311302 | CEP152 | c.2961A>T (p.Arg987=) c.2682A>T (p.Arg894=) c.1002A>T (p.Arg334=) c.996A>T (p.Arg332=) n.3926A>T n.3912A>T | |
15 | g.48756287T>C | CA490311303 | CEP152 | c.2961A>G (p.Arg987=) c.2682A>G (p.Arg894=) c.1002A>G (p.Arg334=) c.996A>G (p.Arg332=) n.3926A>G n.3912A>G | |
15 | g.48756287T>G | CA490311304 | CEP152 | c.2961A>C (p.Arg987=) c.2682A>C (p.Arg894=) c.1002A>C (p.Arg334=) c.996A>C (p.Arg332=) n.3926A>C n.3912A>C | |
15 | g.48756288C>A | CA392343039 | CEP152 | c.2960G>T (p.Arg987Leu) c.2681G>T (p.Arg894Leu) c.1001G>T (p.Arg334Leu) c.995G>T (p.Arg332Leu) n.3925G>T n.3911G>T | |
15 | g.48756288C= | CA2175628995 | CEP152 | c.2960G= (p.Arg987=) c.2681G= (p.Arg894=) c.1001G= (p.Arg334=) c.995G= (p.Arg332=) n.3925G= n.3911G= | |
15 | g.48756288C>G | CA392343040 | CEP152 | c.2960G>C (p.Arg987Pro) c.2681G>C (p.Arg894Pro) c.1001G>C (p.Arg334Pro) c.995G>C (p.Arg332Pro) n.3925G>C n.3911G>C | |
15 | g.48756288C>T | CA7548438 | CEP152 | c.2960G>A (p.Arg987Gln) c.2681G>A (p.Arg894Gln) c.1001G>A (p.Arg334Gln) c.995G>A (p.Arg332Gln) n.3925G>A n.3911G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
15 | g.48756289G>A | CA210938 | CEP152 | c.2959C>T (p.Arg987Ter) c.2680C>T (p.Arg894Ter) c.1000C>T (p.Arg334Ter) c.994C>T (p.Arg332Ter) n.3924C>T n.3910C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756289G>C | CA7548439 | CEP152 | c.2959C>G (p.Arg987Gly) c.2680C>G (p.Arg894Gly) c.1000C>G (p.Arg334Gly) c.994C>G (p.Arg332Gly) n.3924C>G n.3910C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756289G= | CA2175628998 | CEP152 | c.2959C= (p.Arg987=) c.2680C= (p.Arg894=) c.1000C= (p.Arg334=) c.994C= (p.Arg332=) n.3924C= n.3910C= | |
15 | g.48756289G>T | CA490311305 | CEP152 | c.2959C>A (p.Arg987=) c.2680C>A (p.Arg894=) c.1000C>A (p.Arg334=) c.994C>A (p.Arg332=) n.3924C>A n.3910C>A | ClinVar gnomAD v4 |
15 | g.48756290G>A | CA490311306 | CEP152 | c.2958C>T (p.His986=) c.2679C>T (p.His893=) c.999C>T (p.His333=) c.993C>T (p.His331=) n.3923C>T n.3909C>T | gnomAD v4 |
15 | g.48756290G>C | CA392343041 | CEP152 | c.2958C>G (p.His986Gln) c.2679C>G (p.His893Gln) c.999C>G (p.His333Gln) c.993C>G (p.His331Gln) n.3923C>G n.3909C>G | |
15 | g.48756290G= | CA2175629004 | CEP152 | c.2958C= (p.His986=) c.2679C= (p.His893=) c.999C= (p.His333=) c.993C= (p.His331=) n.3923C= n.3909C= | |
15 | g.48756290G>T | CA7548440 | CEP152 | c.2958C>A (p.His986Gln) c.2679C>A (p.His893Gln) c.999C>A (p.His333Gln) c.993C>A (p.His331Gln) n.3923C>A n.3909C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.48756291T>A | CA392343043 | CEP152 | c.2957A>T (p.His986Leu) c.2678A>T (p.His893Leu) c.998A>T (p.His333Leu) c.992A>T (p.His331Leu) n.3922A>T n.3908A>T | gnomAD v4 |
15 | g.48756291T>C | CA392343044 | CEP152 | c.2957A>G (p.His986Arg) c.2678A>G (p.His893Arg) c.998A>G (p.His333Arg) c.992A>G (p.His331Arg) n.3922A>G n.3908A>G | dbSNP |
15 | g.48756291T>G | CA392343042 | CEP152 | c.2957A>C (p.His986Pro) c.2678A>C (p.His893Pro) c.998A>C (p.His333Pro) c.992A>C (p.His331Pro) n.3922A>C n.3908A>C | ClinVar gnomAD v4 |
15 | g.48756292G>A | CA392343045 | CEP152 | c.2956C>T (p.His986Tyr) c.2677C>T (p.His893Tyr) c.997C>T (p.His333Tyr) c.991C>T (p.His331Tyr) n.3921C>T n.3907C>T | |
15 | g.48756292G>C | CA392343047 | CEP152 | c.2956C>G (p.His986Asp) c.2677C>G (p.His893Asp) c.997C>G (p.His333Asp) c.991C>G (p.His331Asp) n.3921C>G n.3907C>G | |
15 | g.48756292G>T | CA392343046 | CEP152 | c.2956C>A (p.His986Asn) c.2677C>A (p.His893Asn) c.997C>A (p.His333Asn) c.991C>A (p.His331Asn) n.3921C>A n.3907C>A | |
15 | g.48756293A>C | CA392343048 | CEP152 | c.2955T>G (p.Asp985Glu) c.2676T>G (p.Asp892Glu) c.996T>G (p.Asp332Glu) c.990T>G (p.Asp330Glu) n.3920T>G n.3906T>G | |
15 | g.48756293A>G | CA490311307 | CEP152 | c.2955T>C (p.Asp985=) c.2676T>C (p.Asp892=) c.996T>C (p.Asp332=) c.990T>C (p.Asp330=) n.3920T>C n.3906T>C | |
15 | g.48756293A>T | CA392343049 | CEP152 | c.2955T>A (p.Asp985Glu) c.2676T>A (p.Asp892Glu) c.996T>A (p.Asp332Glu) c.990T>A (p.Asp330Glu) n.3920T>A n.3906T>A | |
15 | g.48756294T>A | CA392343050 | CEP152 | c.2954A>T (p.Asp985Val) c.2675A>T (p.Asp892Val) c.995A>T (p.Asp332Val) c.989A>T (p.Asp330Val) n.3919A>T n.3905A>T | |
15 | g.48756294T>C | CA392343051 | CEP152 | c.2954A>G (p.Asp985Gly) c.2675A>G (p.Asp892Gly) c.995A>G (p.Asp332Gly) c.989A>G (p.Asp330Gly) n.3919A>G n.3905A>G | dbSNP |
15 | g.48756294T>G | CA392343052 | CEP152 | c.2954A>C (p.Asp985Ala) c.2675A>C (p.Asp892Ala) c.995A>C (p.Asp332Ala) c.989A>C (p.Asp330Ala) n.3919A>C n.3905A>C | |
15 | g.48756294T= | CA2175629007 | CEP152 | c.2954A= (p.Asp985=) c.2675A= (p.Asp892=) c.995A= (p.Asp332=) c.989A= (p.Asp330=) n.3919A= n.3905A= | |
15 | g.48756295C>A | CA392343053 | CEP152 | c.2953G>T (p.Asp985Tyr) c.2674G>T (p.Asp892Tyr) c.994G>T (p.Asp332Tyr) c.988G>T (p.Asp330Tyr) n.3918G>T n.3904G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756295C= | CA2175629014 | CEP152 | c.2953G= (p.Asp985=) c.2674G= (p.Asp892=) c.994G= (p.Asp332=) c.988G= (p.Asp330=) n.3918G= n.3904G= | |
15 | g.48756295C>G | CA392343054 | CEP152 | c.2953G>C (p.Asp985His) c.2674G>C (p.Asp892His) c.994G>C (p.Asp332His) c.988G>C (p.Asp330His) n.3918G>C n.3904G>C | |
15 | g.48756295C>T | CA392343055 | CEP152 | c.2953G>A (p.Asp985Asn) c.2674G>A (p.Asp892Asn) c.994G>A (p.Asp332Asn) c.988G>A (p.Asp330Asn) n.3918G>A n.3904G>A | |
15 | g.48756295_48756296delinsCA | CA2175629012 | CEP152 | c.2952_2953delinsTG (p.Asp984=) c.2673_2674delinsTG (p.Asp891=) c.993_994delinsTG (p.Asp331=) c.987_988delinsTG (p.Asp329=) n.3917_3918delinsTG n.3903_3904delinsTG | |
15 | g.48756296del | CA490311309 | CEP152 | c.2952del (p.Asp984GlufsTer19) c.2673del (p.Asp891GlufsTer19) c.993del (p.Asp331GlufsTer19) c.987del (p.Asp329GlufsTer19) n.3917del n.3903del | dbSNP |
15 | g.48756296A= | CA2175629017 | CEP152 | c.2952T= (p.Asp984=) c.2673T= (p.Asp891=) c.993T= (p.Asp331=) c.987T= (p.Asp329=) n.3917T= n.3903T= | |
15 | g.48756296A>C | CA392343056 | CEP152 | c.2952T>G (p.Asp984Glu) c.2673T>G (p.Asp891Glu) c.993T>G (p.Asp331Glu) c.987T>G (p.Asp329Glu) n.3917T>G n.3903T>G | |
15 | g.48756296A>G | CA490311308 | CEP152 | c.2952T>C (p.Asp984=) c.2673T>C (p.Asp891=) c.993T>C (p.Asp331=) c.987T>C (p.Asp329=) n.3917T>C n.3903T>C | gnomAD v4 |
15 | g.48756296A>T | CA392343057 | CEP152 | c.2952T>A (p.Asp984Glu) c.2673T>A (p.Asp891Glu) c.993T>A (p.Asp331Glu) c.987T>A (p.Asp329Glu) n.3917T>A n.3903T>A | dbSNP gnomAD v3 gnomAD v4 |
15 | g.48756297del | CA392343058 | CEP152 | c.2951del (p.Asp984ValfsTer19) c.2672del (p.Asp891ValfsTer19) c.992del (p.Asp331ValfsTer19) c.986del (p.Asp329ValfsTer19) n.3916del n.3902del | |
15 | g.48756297T>A | CA392343061 | CEP152 | c.2951A>T (p.Asp984Val) c.2672A>T (p.Asp891Val) c.992A>T (p.Asp331Val) c.986A>T (p.Asp329Val) n.3916A>T n.3902A>T | |
15 | g.48756297T>C | CA392343060 | CEP152 | c.2951A>G (p.Asp984Gly) c.2672A>G (p.Asp891Gly) c.992A>G (p.Asp331Gly) c.986A>G (p.Asp329Gly) n.3916A>G n.3902A>G | dbSNP gnomAD v4 |
15 | g.48756297T>G | CA392343059 | CEP152 | c.2951A>C (p.Asp984Ala) c.2672A>C (p.Asp891Ala) c.992A>C (p.Asp331Ala) c.986A>C (p.Asp329Ala) n.3916A>C n.3902A>C | |
15 | g.48756297T= | CA2175629022 | CEP152 | c.2951A= (p.Asp984=) c.2672A= (p.Asp891=) c.992A= (p.Asp331=) c.986A= (p.Asp329=) n.3916A= n.3902A= | |
15 | g.48756298C>A | CA392343062 | CEP152 | c.2950G>T (p.Asp984Tyr) c.2671G>T (p.Asp891Tyr) c.991G>T (p.Asp331Tyr) c.985G>T (p.Asp329Tyr) n.3915G>T n.3901G>T | |
15 | g.48756298C>G | CA392343063 | CEP152 | c.2950G>C (p.Asp984His) c.2671G>C (p.Asp891His) c.991G>C (p.Asp331His) c.985G>C (p.Asp329His) n.3915G>C n.3901G>C | ClinVar |
15 | g.48756298C>T | CA392343064 | CEP152 | c.2950G>A (p.Asp984Asn) c.2671G>A (p.Asp891Asn) c.991G>A (p.Asp331Asn) c.985G>A (p.Asp329Asn) n.3915G>A n.3901G>A | |
15 | g.48756299T>A | CA392343065 | CEP152 | c.2949A>T (p.Leu983Phe) c.2670A>T (p.Leu890Phe) c.990A>T (p.Leu330Phe) c.984A>T (p.Leu328Phe) n.3914A>T n.3900A>T | |
15 | g.48756299T>C | CA490311310 | CEP152 | c.2949A>G (p.Leu983=) c.2670A>G (p.Leu890=) c.990A>G (p.Leu330=) c.984A>G (p.Leu328=) n.3914A>G n.3900A>G | |
15 | g.48756299T>G | CA392343066 | CEP152 | c.2949A>C (p.Leu983Phe) c.2670A>C (p.Leu890Phe) c.990A>C (p.Leu330Phe) c.984A>C (p.Leu328Phe) n.3914A>C n.3900A>C | |
15 | g.48756300A= | CA2175629028 | CEP152 | c.2948T= (p.Leu983=) c.2669T= (p.Leu890=) c.989T= (p.Leu330=) c.983T= (p.Leu328=) n.3913T= n.3899T= | |
15 | g.48756300A>C | CA392343067 | CEP152 | c.2948T>G (p.Leu983Ter) c.2669T>G (p.Leu890Ter) c.989T>G (p.Leu330Ter) c.983T>G (p.Leu328Ter) n.3913T>G n.3899T>G | |
15 | g.48756300A>G | CA392343068 | CEP152 | c.2948T>C (p.Leu983Ser) c.2669T>C (p.Leu890Ser) c.989T>C (p.Leu330Ser) c.983T>C (p.Leu328Ser) n.3913T>C n.3899T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756300A>T | CA392343069 | CEP152 | c.2948T>A (p.Leu983Ter) c.2669T>A (p.Leu890Ter) c.989T>A (p.Leu330Ter) c.983T>A (p.Leu328Ter) n.3913T>A n.3899T>A | |
15 | g.48756301A>C | CA392343070 | CEP152 | c.2947T>G (p.Leu983Val) c.2668T>G (p.Leu890Val) c.988T>G (p.Leu330Val) c.982T>G (p.Leu328Val) n.3912T>G n.3898T>G | |
15 | g.48756301A>G | CA490311311 | CEP152 | c.2947T>C (p.Leu983=) c.2668T>C (p.Leu890=) c.988T>C (p.Leu330=) c.982T>C (p.Leu328=) n.3912T>C n.3898T>C | |
15 | g.48756301A>T | CA392343071 | CEP152 | c.2947T>A (p.Leu983Ile) c.2668T>A (p.Leu890Ile) c.988T>A (p.Leu330Ile) c.982T>A (p.Leu328Ile) n.3912T>A n.3898T>A | |
15 | g.48756302A>C | CA392343072 | CEP152 | c.2946T>G (p.Phe982Leu) c.2667T>G (p.Phe889Leu) c.987T>G (p.Phe329Leu) c.981T>G (p.Phe327Leu) n.3911T>G n.3897T>G | |
15 | g.48756302A>G | CA490311312 | CEP152 | c.2946T>C (p.Phe982=) c.2667T>C (p.Phe889=) c.987T>C (p.Phe329=) c.981T>C (p.Phe327=) n.3911T>C n.3897T>C | |
15 | g.48756302A>T | CA392343073 | CEP152 | c.2946T>A (p.Phe982Leu) c.2667T>A (p.Phe889Leu) c.987T>A (p.Phe329Leu) c.981T>A (p.Phe327Leu) n.3911T>A n.3897T>A | |
15 | g.48756303A= | CA2175629031 | CEP152 | c.2945T= (p.Phe982=) c.2666T= (p.Phe889=) c.986T= (p.Phe329=) c.980T= (p.Phe327=) n.3910T= n.3896T= | |
15 | g.48756303A>C | CA392343076 | CEP152 | c.2945T>G (p.Phe982Cys) c.2666T>G (p.Phe889Cys) c.986T>G (p.Phe329Cys) c.980T>G (p.Phe327Cys) n.3910T>G n.3896T>G | |
15 | g.48756303A>G | CA392343075 | CEP152 | c.2945T>C (p.Phe982Ser) c.2666T>C (p.Phe889Ser) c.986T>C (p.Phe329Ser) c.980T>C (p.Phe327Ser) n.3910T>C n.3896T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.48756303A>T | CA392343074 | CEP152 | c.2945T>A (p.Phe982Tyr) c.2666T>A (p.Phe889Tyr) c.986T>A (p.Phe329Tyr) c.980T>A (p.Phe327Tyr) n.3910T>A n.3896T>A | |
15 | g.48756304A>C | CA392343079 | CEP152 | c.2944T>G (p.Phe982Val) c.2665T>G (p.Phe889Val) c.985T>G (p.Phe329Val) c.979T>G (p.Phe327Val) n.3909T>G n.3895T>G | |
15 | g.48756304A>G | CA392343077 | CEP152 | c.2944T>C (p.Phe982Leu) c.2665T>C (p.Phe889Leu) c.985T>C (p.Phe329Leu) c.979T>C (p.Phe327Leu) n.3909T>C n.3895T>C | |
15 | g.48756304A>T | CA392343078 | CEP152 | c.2944T>A (p.Phe982Ile) c.2665T>A (p.Phe889Ile) c.985T>A (p.Phe329Ile) c.979T>A (p.Phe327Ile) n.3909T>A n.3895T>A | |
15 | g.48756305T>A | CA392343080 | CEP152 | c.2943A>T (p.Gln981His) c.2664A>T (p.Gln888His) c.984A>T (p.Gln328His) c.978A>T (p.Gln326His) n.3908A>T n.3894A>T | |
15 | g.48756305T>C | CA490311313 | CEP152 | c.2943A>G (p.Gln981=) c.2664A>G (p.Gln888=) c.984A>G (p.Gln328=) c.978A>G (p.Gln326=) n.3908A>G n.3894A>G | gnomAD v4 |
15 | g.48756305T>G | CA392343081 | CEP152 | c.2943A>C (p.Gln981His) c.2664A>C (p.Gln888His) c.984A>C (p.Gln328His) c.978A>C (p.Gln326His) n.3908A>C n.3894A>C | |
15 | g.48756306T>A | CA392343082 | CEP152 | c.2942A>T (p.Gln981Leu) c.2663A>T (p.Gln888Leu) c.983A>T (p.Gln328Leu) c.977A>T (p.Gln326Leu) n.3907A>T n.3893A>T | |
15 | g.48756306T>C | CA392343083 | CEP152 | c.2942A>G (p.Gln981Arg) c.2663A>G (p.Gln888Arg) c.983A>G (p.Gln328Arg) c.977A>G (p.Gln326Arg) n.3907A>G n.3893A>G | gnomAD v4 |
15 | g.48756306T>G | CA392343084 | CEP152 | c.2942A>C (p.Gln981Pro) c.2663A>C (p.Gln888Pro) c.983A>C (p.Gln328Pro) c.977A>C (p.Gln326Pro) n.3907A>C n.3893A>C | |
15 | g.48756307G>A | CA392343085 | CEP152 | c.2941C>T (p.Gln981Ter) c.2662C>T (p.Gln888Ter) c.982C>T (p.Gln328Ter) c.976C>T (p.Gln326Ter) n.3906C>T n.3892C>T | gnomAD v4 |
15 | g.48756307G>C | CA392343086 | CEP152 | c.2941C>G (p.Gln981Glu) c.2662C>G (p.Gln888Glu) c.982C>G (p.Gln328Glu) c.976C>G (p.Gln326Glu) n.3906C>G n.3892C>G | |
15 | g.48756307G>T | CA392343087 | CEP152 | c.2941C>A (p.Gln981Lys) c.2662C>A (p.Gln888Lys) c.982C>A (p.Gln328Lys) c.976C>A (p.Gln326Lys) n.3906C>A n.3892C>A | |
15 | g.48756308C>A | CA490311314 | CEP152 | c.2940G>T (p.Arg980=) c.2661G>T (p.Arg887=) c.981G>T (p.Arg327=) c.975G>T (p.Arg325=) n.3905G>T n.3891G>T | ClinVar |
15 | g.48756308C= | CA2175629036 | CEP152 | c.2940G= (p.Arg980=) c.2661G= (p.Arg887=) c.981G= (p.Arg327=) c.975G= (p.Arg325=) n.3905G= n.3891G= | |
15 | g.48756308C>G | CA490311315 | CEP152 | c.2940G>C (p.Arg980=) c.2661G>C (p.Arg887=) c.981G>C (p.Arg327=) c.975G>C (p.Arg325=) n.3905G>C n.3891G>C | |
15 | g.48756308C>T | CA490311316 | CEP152 | c.2940G>A (p.Arg980=) c.2661G>A (p.Arg887=) c.981G>A (p.Arg327=) c.975G>A (p.Arg325=) n.3905G>A n.3891G>A | dbSNP gnomAD v3 gnomAD v4 |