Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18628530A>C | CA412367715 | CDKL5 | c.2656A>C (p.Ser886Arg) c.2779A>C (p.Ser927Arg) c.2728A>C (p.Ser910Arg) c.2647A>C (p.Ser883Arg) n.3031A>C | |
X | g.18628530A>G | CA412367717 | CDKL5 | c.2656A>G (p.Ser886Gly) c.2779A>G (p.Ser927Gly) c.2728A>G (p.Ser910Gly) c.2647A>G (p.Ser883Gly) n.3031A>G | |
X | g.18628530A>T | CA412367719 | CDKL5 | c.2656A>T (p.Ser886Cys) c.2779A>T (p.Ser927Cys) c.2728A>T (p.Ser910Cys) c.2647A>T (p.Ser883Cys) n.3031A>T | |
X | g.18628531G>A | CA412367726 | CDKL5 | c.2657G>A (p.Ser886Asn) c.2780G>A (p.Ser927Asn) c.2729G>A (p.Ser910Asn) c.2648G>A (p.Ser883Asn) n.3032G>A | |
X | g.18628531G>C | CA412367724 | CDKL5 | c.2657G>C (p.Ser886Thr) c.2780G>C (p.Ser927Thr) c.2729G>C (p.Ser910Thr) c.2648G>C (p.Ser883Thr) n.3032G>C | |
X | g.18628531G>T | CA412367722 | CDKL5 | c.2657G>T (p.Ser886Ile) c.2780G>T (p.Ser927Ile) c.2729G>T (p.Ser910Ile) c.2648G>T (p.Ser883Ile) n.3032G>T | |
X | g.18628532C>A | CA412367727 | CDKL5 | c.2658C>A (p.Ser886Arg) c.2781C>A (p.Ser927Arg) c.2730C>A (p.Ser910Arg) c.2649C>A (p.Ser883Arg) n.3033C>A | |
X | g.18628532C>G | CA412367729 | CDKL5 | c.2658C>G (p.Ser886Arg) c.2781C>G (p.Ser927Arg) c.2730C>G (p.Ser910Arg) c.2649C>G (p.Ser883Arg) n.3033C>G | |
X | g.18628532C>T | CA515470810 | CDKL5 | c.2658C>T (p.Ser886=) c.2781C>T (p.Ser927=) c.2730C>T (p.Ser910=) c.2649C>T (p.Ser883=) n.3033C>T | |
X | g.18628533A>C | CA412367732 | CDKL5 | c.2659A>C (p.Ser887Arg) c.2782A>C (p.Ser928Arg) c.2731A>C (p.Ser911Arg) c.2650A>C (p.Ser884Arg) n.3034A>C | |
X | g.18628533A>G | CA412367734 | CDKL5 | c.2659A>G (p.Ser887Gly) c.2782A>G (p.Ser928Gly) c.2731A>G (p.Ser911Gly) c.2650A>G (p.Ser884Gly) n.3034A>G | |
X | g.18628533A>T | CA412367736 | CDKL5 | c.2659A>T (p.Ser887Cys) c.2782A>T (p.Ser928Cys) c.2731A>T (p.Ser911Cys) c.2650A>T (p.Ser884Cys) n.3034A>T | |
X | g.18628534G>A | CA412367739 | CDKL5 | c.2660G>A (p.Ser887Asn) c.2783G>A (p.Ser928Asn) c.2732G>A (p.Ser911Asn) c.2651G>A (p.Ser884Asn) n.3035G>A | |
X | g.18628534G>C | CA412367741 | CDKL5 | c.2660G>C (p.Ser887Thr) c.2783G>C (p.Ser928Thr) c.2732G>C (p.Ser911Thr) c.2651G>C (p.Ser884Thr) n.3035G>C | |
X | g.18628534G>T | CA412367743 | CDKL5 | c.2660G>T (p.Ser887Ile) c.2783G>T (p.Ser928Ile) c.2732G>T (p.Ser911Ile) c.2651G>T (p.Ser884Ile) n.3035G>T | |
X | g.18628534_18628540del | CA2695231353 | CDKL5 | c.2660_2666del (p.Ser887ThrfsTer28) c.2783_2789del (p.Ser928ThrfsTer28) c.2660_2666del (p.Ser887ThrfsTer?) c.2732_2738del (p.Ser911ThrfsTer?) c.2651_2657del (p.Ser884ThrfsTer?) n.3035_3041del | |
X | g.18628534_18628543delinsCC | CA2695231354 | CDKL5 | c.2660_2669delinsCC (p.Ser887ThrfsTer?) c.2783_2792delinsCC (p.Ser928ThrfsTer?) c.2660_2669delinsCC (p.Ser887ThrfsTer20) c.2732_2741delinsCC (p.Ser911ThrfsTer20) c.2651_2660delinsCC (p.Ser884ThrfsTer20) n.3035_3044delinsCC | |
X | g.18628535del | CA2528281511 | CDKL5 | c.2661del (p.Ser887ArgfsTer30) c.2784del (p.Ser928ArgfsTer30) c.2661del (p.Ser887ArgfsTer?) c.2733del (p.Ser911ArgfsTer?) c.2652del (p.Ser884ArgfsTer?) n.3036del | |
X | g.18628535C>A | CA327009058 | CDKL5 | c.2661C>A (p.Ser887Arg) c.2784C>A (p.Ser928Arg) c.2733C>A (p.Ser911Arg) c.2652C>A (p.Ser884Arg) n.3036C>A | dbSNP |
X | g.18628535C= | CA2417982210 | CDKL5 | c.2661C= (p.Ser887=) c.2784C= (p.Ser928=) c.2733C= (p.Ser911=) c.2652C= (p.Ser884=) n.3036C= | |
X | g.18628535C>G | CA412367749 | CDKL5 | c.2661C>G (p.Ser887Arg) c.2784C>G (p.Ser928Arg) c.2733C>G (p.Ser911Arg) c.2652C>G (p.Ser884Arg) n.3036C>G | |
X | g.18628535C>T | CA515470818 | CDKL5 | c.2661C>T (p.Ser887=) c.2784C>T (p.Ser928=) c.2733C>T (p.Ser911=) c.2652C>T (p.Ser884=) n.3036C>T | |
X | g.18628536A>C | CA412367752 | CDKL5 | c.2662A>C (p.Asn888His) c.2785A>C (p.Asn929His) c.2734A>C (p.Asn912His) c.2653A>C (p.Asn885His) n.3037A>C | |
X | g.18628536A>G | CA412367754 | CDKL5 | c.2662A>G (p.Asn888Asp) c.2785A>G (p.Asn929Asp) c.2734A>G (p.Asn912Asp) c.2653A>G (p.Asn885Asp) n.3037A>G | |
X | g.18628536A>T | CA412367755 | CDKL5 | c.2662A>T (p.Asn888Tyr) c.2785A>T (p.Asn929Tyr) c.2734A>T (p.Asn912Tyr) c.2653A>T (p.Asn885Tyr) n.3037A>T | |
X | g.18628537del | CA2695231355 | CDKL5 | c.2663del (p.Asn888ThrfsTer29) c.2786del (p.Asn929ThrfsTer29) c.2663del (p.Asn888ThrfsTer?) c.2735del (p.Asn912ThrfsTer?) c.2654del (p.Asn885ThrfsTer?) n.3038del | |
X | g.18628537A>C | CA412367764 | CDKL5 | c.2663A>C (p.Asn888Thr) c.2786A>C (p.Asn929Thr) c.2735A>C (p.Asn912Thr) c.2654A>C (p.Asn885Thr) n.3038A>C | |
X | g.18628537A>G | CA412367766 | CDKL5 | c.2663A>G (p.Asn888Ser) c.2786A>G (p.Asn929Ser) c.2735A>G (p.Asn912Ser) c.2654A>G (p.Asn885Ser) n.3038A>G | |
X | g.18628537A>T | CA412367759 | CDKL5 | c.2663A>T (p.Asn888Ile) c.2786A>T (p.Asn929Ile) c.2735A>T (p.Asn912Ile) c.2654A>T (p.Asn885Ile) n.3038A>T | |
X | g.18628538C>A | CA412367779 | CDKL5 | c.2664C>A (p.Asn888Lys) c.2787C>A (p.Asn929Lys) c.2736C>A (p.Asn912Lys) c.2655C>A (p.Asn885Lys) n.3039C>A | |
X | g.18628538C>G | CA412367784 | CDKL5 | c.2664C>G (p.Asn888Lys) c.2787C>G (p.Asn929Lys) c.2736C>G (p.Asn912Lys) c.2655C>G (p.Asn885Lys) n.3039C>G | |
X | g.18628538C>T | CA515470836 | CDKL5 | c.2664C>T (p.Asn888=) c.2787C>T (p.Asn929=) c.2736C>T (p.Asn912=) c.2655C>T (p.Asn885=) n.3039C>T | |
X | g.18628539A>C | CA412367793 | CDKL5 | c.2665A>C (p.Ile889Leu) c.2788A>C (p.Ile930Leu) c.2737A>C (p.Ile913Leu) c.2656A>C (p.Ile886Leu) n.3040A>C | |
X | g.18628539A>G | CA412367797 | CDKL5 | c.2665A>G (p.Ile889Val) c.2788A>G (p.Ile930Val) c.2737A>G (p.Ile913Val) c.2656A>G (p.Ile886Val) n.3040A>G | |
X | g.18628539A>T | CA412367803 | CDKL5 | c.2665A>T (p.Ile889Phe) c.2788A>T (p.Ile930Phe) c.2737A>T (p.Ile913Phe) c.2656A>T (p.Ile886Phe) n.3040A>T | |
X | g.18628540T>A | CA412367808 | CDKL5 | c.2666T>A (p.Ile889Asn) c.2789T>A (p.Ile930Asn) c.2738T>A (p.Ile913Asn) c.2657T>A (p.Ile886Asn) n.3041T>A | |
X | g.18628540T>C | CA412367814 | CDKL5 | c.2666T>C (p.Ile889Thr) c.2789T>C (p.Ile930Thr) c.2738T>C (p.Ile913Thr) c.2657T>C (p.Ile886Thr) n.3041T>C | |
X | g.18628540T>G | CA412367818 | CDKL5 | c.2666T>G (p.Ile889Ser) c.2789T>G (p.Ile930Ser) c.2738T>G (p.Ile913Ser) c.2657T>G (p.Ile886Ser) n.3041T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18628540T= | CA2417982211 | CDKL5 | c.2666T= (p.Ile889=) c.2789T= (p.Ile930=) c.2738T= (p.Ile913=) c.2657T= (p.Ile886=) n.3041T= | |
X | g.18628541C>A | CA515470850 | CDKL5 | c.2667C>A (p.Ile889=) c.2790C>A (p.Ile930=) c.2739C>A (p.Ile913=) c.2658C>A (p.Ile886=) n.3042C>A | |
X | g.18628541C= | CA2417982212 | CDKL5 | c.2667C= (p.Ile889=) c.2790C= (p.Ile930=) c.2739C= (p.Ile913=) c.2658C= (p.Ile886=) n.3042C= | |
X | g.18628541C>G | CA412367823 | CDKL5 | c.2667C>G (p.Ile889Met) c.2790C>G (p.Ile930Met) c.2739C>G (p.Ile913Met) c.2658C>G (p.Ile886Met) n.3042C>G | |
X | g.18628541C>T | CA515470851 | CDKL5 | c.2667C>T (p.Ile889=) c.2790C>T (p.Ile930=) c.2739C>T (p.Ile913=) c.2658C>T (p.Ile886=) n.3042C>T | dbSNP |
X | g.18628542C>A | CA515470853 | CDKL5 | c.2668C>A (p.Arg890=) c.2791C>A (p.Arg931=) c.2740C>A (p.Arg914=) c.2659C>A (p.Arg887=) n.3043C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18628542C= | CA2417982213 | CDKL5 | c.2668C= (p.Arg890=) c.2791C= (p.Arg931=) c.2740C= (p.Arg914=) c.2659C= (p.Arg887=) n.3043C= | |
X | g.18628542C>G | CA412367827 | CDKL5 | c.2668C>G (p.Arg890Gly) c.2791C>G (p.Arg931Gly) c.2740C>G (p.Arg914Gly) c.2659C>G (p.Arg887Gly) n.3043C>G | |
X | g.18628542C>T | CA412367828 | CDKL5 | c.2668C>T (p.Arg890Trp) c.2791C>T (p.Arg931Trp) c.2740C>T (p.Arg914Trp) c.2659C>T (p.Arg887Trp) n.3043C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.18628543G>A | CA327009061 | CDKL5 | c.2669G>A (p.Arg890Gln) c.2792G>A (p.Arg931Gln) c.2741G>A (p.Arg914Gln) c.2660G>A (p.Arg887Gln) n.3044G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628543G>C | CA412367838 | CDKL5 | c.2669G>C (p.Arg890Pro) c.2792G>C (p.Arg931Pro) c.2741G>C (p.Arg914Pro) c.2660G>C (p.Arg887Pro) n.3044G>C | |
X | g.18628543G= | CA2417982214 | CDKL5 | c.2669G= (p.Arg890=) c.2792G= (p.Arg931=) c.2741G= (p.Arg914=) c.2660G= (p.Arg887=) n.3044G= | |
X | g.18628543G>T | CA412367834 | CDKL5 | c.2669G>T (p.Arg890Leu) c.2792G>T (p.Arg931Leu) c.2741G>T (p.Arg914Leu) c.2660G>T (p.Arg887Leu) n.3044G>T | gnomAD v4 |
X | g.18628543_18628553delinsGGCAGGAACCC | CA2417982215 | CDKL5 | c.2669_2679delinsGGCAGGAACCC (p.Arg890=) c.2792_2802delinsGGCAGGAACCC (p.Arg931=) c.2741_2751delinsGGCAGGAACCC (p.Arg914=) c.2660_2670delinsGGCAGGAACCC (p.Arg887=) n.3044_3054delinsGGCAGGAACCC | |
X | g.18628544G>A | CA515470865 | CDKL5 | c.2670G>A (p.Arg890=) c.2793G>A (p.Arg931=) c.2742G>A (p.Arg914=) c.2661G>A (p.Arg887=) n.3045G>A | |
X | g.18628544G>C | CA515470866 | CDKL5 | c.2670G>C (p.Arg890=) c.2793G>C (p.Arg931=) c.2742G>C (p.Arg914=) c.2661G>C (p.Arg887=) n.3045G>C | |
X | g.18628544G>T | CA515470869 | CDKL5 | c.2670G>T (p.Arg890=) c.2793G>T (p.Arg931=) c.2742G>T (p.Arg914=) c.2661G>T (p.Arg887=) n.3045G>T | |
X | g.18628547_18628556del | CA916083849 | CDKL5 | c.2673_2682del (p.Gln891HisfsTer23) c.2796_2805del (p.Gln932HisfsTer23) c.2673_2682del (p.Gln891HisfsTer?) c.2745_2754del (p.Gln915HisfsTer?) c.2664_2673del (p.Gln888HisfsTer?) n.3048_3057del | ClinVar dbSNP |
X | g.18628545C>A | CA412367850 | CDKL5 | c.2671C>A (p.Gln891Lys) c.2794C>A (p.Gln932Lys) c.2743C>A (p.Gln915Lys) c.2662C>A (p.Gln888Lys) n.3046C>A | COSMIC |
X | g.18628545C= | CA2417982216 | CDKL5 | c.2671C= (p.Gln891=) c.2794C= (p.Gln932=) c.2743C= (p.Gln915=) c.2662C= (p.Gln888=) n.3046C= | |
X | g.18628545C>G | CA412367853 | CDKL5 | c.2671C>G (p.Gln891Glu) c.2794C>G (p.Gln932Glu) c.2743C>G (p.Gln915Glu) c.2662C>G (p.Gln888Glu) n.3046C>G | COSMIC |
X | g.18628545C>T | CA294766 | CDKL5 | c.2671C>T (p.Gln891Ter) c.2794C>T (p.Gln932Ter) c.2743C>T (p.Gln915Ter) c.2662C>T (p.Gln888Ter) n.3046C>T | ClinVar dbSNP |
X | g.18628546A>C | CA412367863 | CDKL5 | c.2672A>C (p.Gln891Pro) c.2795A>C (p.Gln932Pro) c.2744A>C (p.Gln915Pro) c.2663A>C (p.Gln888Pro) n.3047A>C | |
X | g.18628546A>G | CA412367866 | CDKL5 | c.2672A>G (p.Gln891Arg) c.2795A>G (p.Gln932Arg) c.2744A>G (p.Gln915Arg) c.2663A>G (p.Gln888Arg) n.3047A>G | |
X | g.18628546A>T | CA412367871 | CDKL5 | c.2672A>T (p.Gln891Leu) c.2795A>T (p.Gln932Leu) c.2744A>T (p.Gln915Leu) c.2663A>T (p.Gln888Leu) n.3047A>T | |
X | g.18628547G>A | CA199339 | CDKL5 | c.2673G>A (p.Gln891=) c.2796G>A (p.Gln932=) c.2745G>A (p.Gln915=) c.2664G>A (p.Gln888=) n.3048G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628547G>C | CA412367882 | CDKL5 | c.2673G>C (p.Gln891His) c.2796G>C (p.Gln932His) c.2745G>C (p.Gln915His) c.2664G>C (p.Gln888His) n.3048G>C | |
X | g.18628547G= | CA2417982217 | CDKL5 | c.2673G= (p.Gln891=) c.2796G= (p.Gln932=) c.2745G= (p.Gln915=) c.2664G= (p.Gln888=) n.3048G= | |
X | g.18628547G>T | CA412367898 | CDKL5 | c.2673G>T (p.Gln891His) c.2796G>T (p.Gln932His) c.2745G>T (p.Gln915His) c.2664G>T (p.Gln888His) n.3048G>T | |
X | g.18628548G>A | CA412367906 | CDKL5 | c.2674G>A (p.Glu892Lys) c.2797G>A (p.Glu933Lys) c.2746G>A (p.Glu916Lys) c.2665G>A (p.Glu889Lys) n.3049G>A | |
X | g.18628548G>C | CA412367911 | CDKL5 | c.2674G>C (p.Glu892Gln) c.2797G>C (p.Glu933Gln) c.2746G>C (p.Glu916Gln) c.2665G>C (p.Glu889Gln) n.3049G>C | |
X | g.18628548G>T | CA412367915 | CDKL5 | c.2674G>T (p.Glu892Ter) c.2797G>T (p.Glu933Ter) c.2746G>T (p.Glu916Ter) c.2665G>T (p.Glu889Ter) n.3049G>T | |
X | g.18628549A>C | CA412367930 | CDKL5 | c.2675A>C (p.Glu892Ala) c.2798A>C (p.Glu933Ala) c.2747A>C (p.Glu916Ala) c.2666A>C (p.Glu889Ala) n.3050A>C | |
X | g.18628549A>G | CA412367927 | CDKL5 | c.2675A>G (p.Glu892Gly) c.2798A>G (p.Glu933Gly) c.2747A>G (p.Glu916Gly) c.2666A>G (p.Glu889Gly) n.3050A>G | |
X | g.18628549A>T | CA412367921 | CDKL5 | c.2675A>T (p.Glu892Val) c.2798A>T (p.Glu933Val) c.2747A>T (p.Glu916Val) c.2666A>T (p.Glu889Val) n.3050A>T | |
X | g.18628550A>C | CA412367938 | CDKL5 | c.2676A>C (p.Glu892Asp) c.2799A>C (p.Glu933Asp) c.2748A>C (p.Glu916Asp) c.2667A>C (p.Glu889Asp) n.3051A>C | |
X | g.18628550A>G | CA515470901 | CDKL5 | c.2676A>G (p.Glu892=) c.2799A>G (p.Glu933=) c.2748A>G (p.Glu916=) c.2667A>G (p.Glu889=) n.3051A>G | |
X | g.18628550A>T | CA412367941 | CDKL5 | c.2676A>T (p.Glu892Asp) c.2799A>T (p.Glu933Asp) c.2748A>T (p.Glu916Asp) c.2667A>T (p.Glu889Asp) n.3051A>T | |
X | g.18628551C>A | CA412367948 | CDKL5 | c.2677C>A (p.Pro893Thr) c.2800C>A (p.Pro934Thr) c.2749C>A (p.Pro917Thr) c.2668C>A (p.Pro890Thr) n.3052C>A | |
X | g.18628551C= | CA2417982218 | CDKL5 | c.2677C= (p.Pro893=) c.2800C= (p.Pro934=) c.2749C= (p.Pro917=) c.2668C= (p.Pro890=) n.3052C= | |
X | g.18628551C>G | CA412367956 | CDKL5 | c.2677C>G (p.Pro893Ala) c.2800C>G (p.Pro934Ala) c.2749C>G (p.Pro917Ala) c.2668C>G (p.Pro890Ala) n.3052C>G | |
X | g.18628551C>T | CA10360571 | CDKL5 | c.2677C>T (p.Pro893Ser) c.2800C>T (p.Pro934Ser) c.2749C>T (p.Pro917Ser) c.2668C>T (p.Pro890Ser) n.3052C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628552C>A | CA412367963 | CDKL5 | c.2678C>A (p.Pro893His) c.2801C>A (p.Pro934His) c.2750C>A (p.Pro917His) c.2669C>A (p.Pro890His) n.3053C>A | |
X | g.18628552C>G | CA412367969 | CDKL5 | c.2678C>G (p.Pro893Arg) c.2801C>G (p.Pro934Arg) c.2750C>G (p.Pro917Arg) c.2669C>G (p.Pro890Arg) n.3053C>G | |
X | g.18628552C>T | CA412367966 | CDKL5 | c.2678C>T (p.Pro893Leu) c.2801C>T (p.Pro934Leu) c.2750C>T (p.Pro917Leu) c.2669C>T (p.Pro890Leu) n.3053C>T | |
X | g.18628553C>A | CA515470917 | CDKL5 | c.2679C>A (p.Pro893=) c.2802C>A (p.Pro934=) c.2751C>A (p.Pro917=) c.2670C>A (p.Pro890=) n.3054C>A | |
X | g.18628553C= | CA2417982219 | CDKL5 | c.2679C= (p.Pro893=) c.2802C= (p.Pro934=) c.2751C= (p.Pro917=) c.2670C= (p.Pro890=) n.3054C= | |
X | g.18628553C>G | CA515470918 | CDKL5 | c.2679C>G (p.Pro893=) c.2802C>G (p.Pro934=) c.2751C>G (p.Pro917=) c.2670C>G (p.Pro890=) n.3054C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628553C>T | CA327009066 | CDKL5 | c.2679C>T (p.Pro893=) c.2802C>T (p.Pro934=) c.2751C>T (p.Pro917=) c.2670C>T (p.Pro890=) n.3054C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.18628553_18628554insAAACACACCCAAC | CA2819912966 | CDKL5 | c.2679_2680insAAACACACCCAAC (p.Ala894LysfsTer?) c.2802_2803insAAACACACCCAAC (p.Ala935LysfsTer?) c.2679_2680insAAACACACCCAAC (p.Ala894LysfsTer20) c.2751_2752insAAACACACCCAAC (p.Ala918LysfsTer20) c.2670_2671insAAACACACCCAAC (p.Ala891LysfsTer20) n.3054_3055insAAACACACCCAAC | |
X | g.18628554G>A | CA10360572 | CDKL5 | c.2680G>A (p.Ala894Thr) c.2803G>A (p.Ala935Thr) c.2752G>A (p.Ala918Thr) c.2671G>A (p.Ala891Thr) n.3055G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628554G>C | CA412367987 | CDKL5 | c.2680G>C (p.Ala894Pro) c.2803G>C (p.Ala935Pro) c.2752G>C (p.Ala918Pro) c.2671G>C (p.Ala891Pro) n.3055G>C | ClinVar dbSNP gnomAD v4 |
X | g.18628554G= | CA2417982220 | CDKL5 | c.2680G= (p.Ala894=) c.2803G= (p.Ala935=) c.2752G= (p.Ala918=) c.2671G= (p.Ala891=) n.3055G= | |
X | g.18628554G>T | CA412367998 | CDKL5 | c.2680G>T (p.Ala894Ser) c.2803G>T (p.Ala935Ser) c.2752G>T (p.Ala918Ser) c.2671G>T (p.Ala891Ser) n.3055G>T | ClinVar |
X | g.18628555C>A | CA412368005 | CDKL5 | c.2681C>A (p.Ala894Glu) c.2804C>A (p.Ala935Glu) c.2753C>A (p.Ala918Glu) c.2672C>A (p.Ala891Glu) n.3056C>A | |
X | g.18628555C= | CA2417982221 | CDKL5 | c.2681C= (p.Ala894=) c.2804C= (p.Ala935=) c.2753C= (p.Ala918=) c.2672C= (p.Ala891=) n.3056C= | |
X | g.18628555C>G | CA412368008 | CDKL5 | c.2681C>G (p.Ala894Gly) c.2804C>G (p.Ala935Gly) c.2753C>G (p.Ala918Gly) c.2672C>G (p.Ala891Gly) n.3056C>G | |
X | g.18628555C>T | CA412368011 | CDKL5 | c.2681C>T (p.Ala894Val) c.2804C>T (p.Ala935Val) c.2753C>T (p.Ala918Val) c.2672C>T (p.Ala891Val) n.3056C>T | gnomAD v4 |
X | g.18628556A>C | CA515470939 | CDKL5 | c.2682A>C (p.Ala894=) c.2805A>C (p.Ala935=) c.2754A>C (p.Ala918=) c.2673A>C (p.Ala891=) n.3057A>C | |
X | g.18628556A>G | CA515470941 | CDKL5 | c.2682A>G (p.Ala894=) c.2805A>G (p.Ala935=) c.2754A>G (p.Ala918=) c.2673A>G (p.Ala891=) n.3057A>G | |
X | g.18628556A>T | CA515470943 | CDKL5 | c.2682A>T (p.Ala894=) c.2805A>T (p.Ala935=) c.2754A>T (p.Ala918=) c.2673A>T (p.Ala891=) n.3057A>T | |
X | g.18628556_18628557insGGAA | CA891843847 | CDKL5 | c.2682_2683insGGAA (p.Pro895GlyfsTer?) c.2805_2806insGGAA (p.Pro936GlyfsTer?) c.2682_2683insGGAA (p.Pro895GlyfsTer16) c.2754_2755insGGAA (p.Pro919GlyfsTer16) c.2673_2674insGGAA (p.Pro892GlyfsTer16) n.3057_3058insGGAA | ClinVar dbSNP |
X | g.18628556dup | CA1139667259 | CDKL5 | c.2682dup (p.Pro895ThrfsTer?) c.2805dup (p.Pro936ThrfsTer?) c.2682dup (p.Pro895ThrfsTer15) c.2754dup (p.Pro919ThrfsTer15) c.2673dup (p.Pro892ThrfsTer15) n.3057dup | ClinVar dbSNP |
X | g.18628557C>A | CA412368014 | CDKL5 | c.2683C>A (p.Pro895Thr) c.2806C>A (p.Pro936Thr) c.2755C>A (p.Pro919Thr) c.2674C>A (p.Pro892Thr) n.3058C>A | ClinVar |
X | g.18628557C>G | CA412368017 | CDKL5 | c.2683C>G (p.Pro895Ala) c.2806C>G (p.Pro936Ala) c.2755C>G (p.Pro919Ala) c.2674C>G (p.Pro892Ala) n.3058C>G | |
X | g.18628557C>T | CA412368020 | CDKL5 | c.2683C>T (p.Pro895Ser) c.2806C>T (p.Pro936Ser) c.2755C>T (p.Pro919Ser) c.2674C>T (p.Pro892Ser) n.3058C>T | ClinVar |
X | g.18628558C>A | CA412368026 | CDKL5 | c.2684C>A (p.Pro895Gln) c.2807C>A (p.Pro936Gln) c.2756C>A (p.Pro919Gln) c.2675C>A (p.Pro892Gln) n.3059C>A | COSMIC |
X | g.18628558C= | CA2417982222 | CDKL5 | c.2684C= (p.Pro895=) c.2807C= (p.Pro936=) c.2756C= (p.Pro919=) c.2675C= (p.Pro892=) n.3059C= | |
X | g.18628558C>G | CA412368035 | CDKL5 | c.2684C>G (p.Pro895Arg) c.2807C>G (p.Pro936Arg) c.2756C>G (p.Pro919Arg) c.2675C>G (p.Pro892Arg) n.3059C>G | |
X | g.18628558C>T | CA294762 | CDKL5 | c.2684C>T (p.Pro895Leu) c.2807C>T (p.Pro936Leu) c.2756C>T (p.Pro919Leu) c.2675C>T (p.Pro892Leu) n.3059C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18628559G>A | CA515471689 | CDKL5 | c.2685G>A (p.Pro895=) c.2808G>A (p.Pro936=) c.2757G>A (p.Pro919=) c.2676G>A (p.Pro892=) n.3060G>A | ClinVar gnomAD v4 |
X | g.18628559G>C | CA515471687 | CDKL5 | c.2685G>C (p.Pro895=) c.2808G>C (p.Pro936=) c.2757G>C (p.Pro919=) c.2676G>C (p.Pro892=) n.3060G>C | |
X | g.18628559G>T | CA515471684 | CDKL5 | c.2685G>T (p.Pro895=) c.2808G>T (p.Pro936=) c.2757G>T (p.Pro919=) c.2676G>T (p.Pro892=) n.3060G>T | |
X | g.18628560A>C | CA412368043 | CDKL5 | c.2686A>C (p.Lys896Gln) c.2809A>C (p.Lys937Gln) c.2758A>C (p.Lys920Gln) c.2677A>C (p.Lys893Gln) n.3061A>C | |
X | g.18628560A>G | CA412368046 | CDKL5 | c.2686A>G (p.Lys896Glu) c.2809A>G (p.Lys937Glu) c.2758A>G (p.Lys920Glu) c.2677A>G (p.Lys893Glu) n.3061A>G | |
X | g.18628560A>T | CA412368049 | CDKL5 | c.2686A>T (p.Lys896Ter) c.2809A>T (p.Lys937Ter) c.2758A>T (p.Lys920Ter) c.2677A>T (p.Lys893Ter) n.3061A>T | |
X | g.18628561A>C | CA412368054 | CDKL5 | c.2687A>C (p.Lys896Thr) c.2810A>C (p.Lys937Thr) c.2759A>C (p.Lys920Thr) c.2678A>C (p.Lys893Thr) n.3062A>C | |
X | g.18628561A>G | CA412368057 | CDKL5 | c.2687A>G (p.Lys896Arg) c.2810A>G (p.Lys937Arg) c.2759A>G (p.Lys920Arg) c.2678A>G (p.Lys893Arg) n.3062A>G | |
X | g.18628561A>T | CA412368056 | CDKL5 | c.2687A>T (p.Lys896Met) c.2810A>T (p.Lys937Met) c.2759A>T (p.Lys920Met) c.2678A>T (p.Lys893Met) n.3062A>T | |
X | g.18628562G>A | CA515471702 | CDKL5 | c.2688G>A (p.Lys896=) c.2811G>A (p.Lys937=) c.2760G>A (p.Lys920=) c.2679G>A (p.Lys893=) n.3063G>A | |
X | g.18628562G>C | CA412368058 | CDKL5 | c.2688G>C (p.Lys896Asn) c.2811G>C (p.Lys937Asn) c.2760G>C (p.Lys920Asn) c.2679G>C (p.Lys893Asn) n.3063G>C | |
X | g.18628562G= | CA2417982223 | CDKL5 | c.2688G= (p.Lys896=) c.2811G= (p.Lys937=) c.2760G= (p.Lys920=) c.2679G= (p.Lys893=) n.3063G= | |
X | g.18628562G>T | CA412368059 | CDKL5 | c.2688G>T (p.Lys896Asn) c.2811G>T (p.Lys937Asn) c.2760G>T (p.Lys920Asn) c.2679G>T (p.Lys893Asn) n.3063G>T | dbSNP |
X | g.18628563G>A | CA412368064 | CDKL5 | c.2689G>A (p.Gly897Ser) c.2812G>A (p.Gly938Ser) c.2761G>A (p.Gly921Ser) c.2680G>A (p.Gly894Ser) n.3064G>A | |
X | g.18628563G>C | CA412368065 | CDKL5 | c.2689G>C (p.Gly897Arg) c.2812G>C (p.Gly938Arg) c.2761G>C (p.Gly921Arg) c.2680G>C (p.Gly894Arg) n.3064G>C | |
X | g.18628563G>T | CA412368070 | CDKL5 | c.2689G>T (p.Gly897Cys) c.2812G>T (p.Gly938Cys) c.2761G>T (p.Gly921Cys) c.2680G>T (p.Gly894Cys) n.3064G>T | |
X | g.18628564G>A | CA412368071 | CDKL5 | c.2690G>A (p.Gly897Asp) c.2813G>A (p.Gly938Asp) c.2762G>A (p.Gly921Asp) c.2681G>A (p.Gly894Asp) n.3065G>A | |
X | g.18628564G>C | CA412368073 | CDKL5 | c.2690G>C (p.Gly897Ala) c.2813G>C (p.Gly938Ala) c.2762G>C (p.Gly921Ala) c.2681G>C (p.Gly894Ala) n.3065G>C | |
X | g.18628564G>T | CA412368076 | CDKL5 | c.2690G>T (p.Gly897Val) c.2813G>T (p.Gly938Val) c.2762G>T (p.Gly921Val) c.2681G>T (p.Gly894Val) n.3065G>T | |
X | g.18628565C>A | CA515471716 | CDKL5 | c.2691C>A (p.Gly897=) c.2814C>A (p.Gly938=) c.2763C>A (p.Gly921=) c.2682C>A (p.Gly894=) n.3066C>A | |
X | g.18628565C>G | CA515471718 | CDKL5 | c.2691C>G (p.Gly897=) c.2814C>G (p.Gly938=) c.2763C>G (p.Gly921=) c.2682C>G (p.Gly894=) n.3066C>G | |
X | g.18628565C>T | CA515471720 | CDKL5 | c.2691C>T (p.Gly897=) c.2814C>T (p.Gly938=) c.2763C>T (p.Gly921=) c.2682C>T (p.Gly894=) n.3066C>T | |
X | g.18628566A>C | CA515471724 | CDKL5 | c.2692A>C (p.Arg898=) c.2815A>C (p.Arg939=) c.2764A>C (p.Arg922=) c.2683A>C (p.Arg895=) n.3067A>C | |
X | g.18628566A>G | CA412368079 | CDKL5 | c.2692A>G (p.Arg898Gly) c.2815A>G (p.Arg939Gly) c.2764A>G (p.Arg922Gly) c.2683A>G (p.Arg895Gly) n.3067A>G | |
X | g.18628566A>T | CA412368084 | CDKL5 | c.2692A>T (p.Arg898Trp) c.2815A>T (p.Arg939Trp) c.2764A>T (p.Arg922Trp) c.2683A>T (p.Arg895Trp) n.3067A>T | |
X | g.18628567G>A | CA412368094 | CDKL5 | c.2693G>A (p.Arg898Lys) c.2816G>A (p.Arg939Lys) c.2765G>A (p.Arg922Lys) c.2684G>A (p.Arg895Lys) n.3068G>A | |
X | g.18628567G>C | CA412368097 | CDKL5 | c.2693G>C (p.Arg898Thr) c.2816G>C (p.Arg939Thr) c.2765G>C (p.Arg922Thr) c.2684G>C (p.Arg895Thr) n.3068G>C | |
X | g.18628567G>T | CA412368090 | CDKL5 | c.2693G>T (p.Arg898Met) c.2816G>T (p.Arg939Met) c.2765G>T (p.Arg922Met) c.2684G>T (p.Arg895Met) n.3068G>T | |
X | g.18628567_18628568del | CA2573158463 | CDKL5 | c.2693_2694del (p.Arg898ThrfsTer30) c.2816_2817del (p.Arg939ThrfsTer30) c.2693_2694del (p.Arg898ThrfsTer11) c.2765_2766del (p.Arg922ThrfsTer11) c.2684_2685del (p.Arg895ThrfsTer11) n.3068_3069del | ClinVar dbSNP |
X | g.18628568G>A | CA515471739 | CDKL5 | c.2694G>A (p.Arg898=) c.2817G>A (p.Arg939=) c.2766G>A (p.Arg922=) c.2685G>A (p.Arg895=) n.3069G>A | gnomAD v4 |
X | g.18628568G>C | CA412368101 | CDKL5 | c.2694G>C (p.Arg898Ser) c.2817G>C (p.Arg939Ser) c.2766G>C (p.Arg922Ser) c.2685G>C (p.Arg895Ser) n.3069G>C | |
X | g.18628568G>T | CA412368105 | CDKL5 | c.2694G>T (p.Arg898Ser) c.2817G>T (p.Arg939Ser) c.2766G>T (p.Arg922Ser) c.2685G>T (p.Arg895Ser) n.3069G>T | |
X | g.18628569C>A | CA412368112 | CDKL5 | c.2695C>A (p.Pro899Thr) c.2818C>A (p.Pro940Thr) c.2767C>A (p.Pro923Thr) c.2686C>A (p.Pro896Thr) n.3070C>A | |
X | g.18628569C>G | CA412368115 | CDKL5 | c.2695C>G (p.Pro899Ala) c.2818C>G (p.Pro940Ala) c.2767C>G (p.Pro923Ala) c.2686C>G (p.Pro896Ala) n.3070C>G | ClinVar gnomAD v4 |
X | g.18628569C>T | CA412368118 | CDKL5 | c.2695C>T (p.Pro899Ser) c.2818C>T (p.Pro940Ser) c.2767C>T (p.Pro923Ser) c.2686C>T (p.Pro896Ser) n.3070C>T | |
X | g.18628570C>A | CA412368127 | CDKL5 | c.2696C>A (p.Pro899Gln) c.2819C>A (p.Pro940Gln) c.2768C>A (p.Pro923Gln) c.2687C>A (p.Pro896Gln) n.3071C>A | ClinVar dbSNP |
X | g.18628570C>G | CA412368132 | CDKL5 | c.2696C>G (p.Pro899Arg) c.2819C>G (p.Pro940Arg) c.2768C>G (p.Pro923Arg) c.2687C>G (p.Pro896Arg) n.3071C>G | |
X | g.18628570C>T | CA412368144 | CDKL5 | c.2696C>T (p.Pro899Leu) c.2819C>T (p.Pro940Leu) c.2768C>T (p.Pro923Leu) c.2687C>T (p.Pro896Leu) n.3071C>T | gnomAD v4 |
X | g.18628571A>C | CA515471754 | CDKL5 | c.2697A>C (p.Pro899=) c.2820A>C (p.Pro940=) c.2769A>C (p.Pro923=) c.2688A>C (p.Pro896=) n.3072A>C | gnomAD v4 |
X | g.18628571A>G | CA515471756 | CDKL5 | c.2697A>G (p.Pro899=) c.2820A>G (p.Pro940=) c.2769A>G (p.Pro923=) c.2688A>G (p.Pro896=) n.3072A>G | |
X | g.18628571A>T | CA515471757 | CDKL5 | c.2697A>T (p.Pro899=) c.2820A>T (p.Pro940=) c.2769A>T (p.Pro923=) c.2688A>T (p.Pro896=) n.3072A>T | |
X | g.18628572G>A | CA412368152 | CDKL5 | c.2698G>A (p.Ala900Thr) c.2821G>A (p.Ala941Thr) c.2770G>A (p.Ala924Thr) c.2689G>A (p.Ala897Thr) n.3073G>A | |
X | g.18628572G>C | CA412368157 | CDKL5 | c.2698G>C (p.Ala900Pro) c.2821G>C (p.Ala941Pro) c.2770G>C (p.Ala924Pro) c.2689G>C (p.Ala897Pro) n.3073G>C | |
X | g.18628572G>T | CA412368162 | CDKL5 | c.2698G>T (p.Ala900Ser) c.2821G>T (p.Ala941Ser) c.2770G>T (p.Ala924Ser) c.2689G>T (p.Ala897Ser) n.3073G>T | gnomAD v4 |
X | g.18628573C>A | CA412368171 | CDKL5 | c.2699C>A (p.Ala900Asp) c.2822C>A (p.Ala941Asp) c.2771C>A (p.Ala924Asp) c.2690C>A (p.Ala897Asp) n.3074C>A | |
X | g.18628573C>G | CA412368174 | CDKL5 | c.2699C>G (p.Ala900Gly) c.2822C>G (p.Ala941Gly) c.2771C>G (p.Ala924Gly) c.2690C>G (p.Ala897Gly) n.3074C>G | |
X | g.18628573C>T | CA412368168 | CDKL5 | c.2699C>T (p.Ala900Val) c.2822C>T (p.Ala941Val) c.2771C>T (p.Ala924Val) c.2690C>T (p.Ala897Val) n.3074C>T | |
X | g.18628575dup | CA2695231356 | CDKL5 | c.2701dup (p.Leu901ProfsTer28) c.2824dup (p.Leu942ProfsTer28) c.2701dup (p.Leu901ProfsTer9) c.2773dup (p.Leu925ProfsTer9) c.2692dup (p.Leu898ProfsTer9) n.3076dup | |
X | g.18628574C>A | CA515471772 | CDKL5 | c.2700C>A (p.Ala900=) c.2823C>A (p.Ala941=) c.2772C>A (p.Ala924=) c.2691C>A (p.Ala897=) n.3075C>A | |
X | g.18628574C>G | CA515471774 | CDKL5 | c.2700C>G (p.Ala900=) c.2823C>G (p.Ala941=) c.2772C>G (p.Ala924=) c.2691C>G (p.Ala897=) n.3075C>G | |
X | g.18628574C>T | CA515471776 | CDKL5 | c.2700C>T (p.Ala900=) c.2823C>T (p.Ala941=) c.2772C>T (p.Ala924=) c.2691C>T (p.Ala897=) n.3075C>T | |
X | g.18628575C>A | CA412368180 | CDKL5 | c.2701C>A (p.Leu901Ile) c.2824C>A (p.Leu942Ile) c.2773C>A (p.Leu925Ile) c.2692C>A (p.Leu898Ile) n.3076C>A | |
X | g.18628575C>G | CA412368183 | CDKL5 | c.2701C>G (p.Leu901Val) c.2824C>G (p.Leu942Val) c.2773C>G (p.Leu925Val) c.2692C>G (p.Leu898Val) n.3076C>G | |
X | g.18628575C>T | CA412368187 | CDKL5 | c.2701C>T (p.Leu901Phe) c.2824C>T (p.Leu942Phe) c.2773C>T (p.Leu925Phe) c.2692C>T (p.Leu898Phe) n.3076C>T | |
X | g.18628576T>A | CA412368194 | CDKL5 | c.2702T>A (p.Leu901His) c.2825T>A (p.Leu942His) c.2774T>A (p.Leu925His) c.2693T>A (p.Leu898His) n.3077T>A | |
X | g.18628576T>C | CA412368197 | CDKL5 | c.2702T>C (p.Leu901Pro) c.2825T>C (p.Leu942Pro) c.2774T>C (p.Leu925Pro) c.2693T>C (p.Leu898Pro) n.3077T>C | |
X | g.18628576T>G | CA412368200 | CDKL5 | c.2702T>G (p.Leu901Arg) c.2825T>G (p.Leu942Arg) c.2774T>G (p.Leu925Arg) c.2693T>G (p.Leu898Arg) n.3077T>G | |
X | g.18628577C>A | CA515471786 | CDKL5 | c.2703C>A (p.Leu901=) c.2826C>A (p.Leu942=) c.2775C>A (p.Leu925=) c.2694C>A (p.Leu898=) n.3078C>A | |
X | g.18628577C= | CA2417982224 | CDKL5 | c.2703C= (p.Leu901=) c.2826C= (p.Leu942=) c.2775C= (p.Leu925=) c.2694C= (p.Leu898=) n.3078C= | |
X | g.18628577C>G | CA515471788 | CDKL5 | c.2703C>G (p.Leu901=) c.2826C>G (p.Leu942=) c.2775C>G (p.Leu925=) c.2694C>G (p.Leu898=) n.3078C>G | |
X | g.18628577C>T | CA515471790 | CDKL5 | c.2703C>T (p.Leu901=) c.2826C>T (p.Leu942=) c.2775C>T (p.Leu925=) c.2694C>T (p.Leu898=) n.3078C>T | dbSNP |
X | g.18628578C>A | CA327009072 | CDKL5 | c.2704C>A (p.Gln902Lys) c.2827C>A (p.Gln943Lys) c.2776C>A (p.Gln926Lys) c.2695C>A (p.Gln899Lys) n.3079C>A | ClinVar dbSNP |
X | g.18628578C= | CA2417982225 | CDKL5 | c.2704C= (p.Gln902=) c.2827C= (p.Gln943=) c.2776C= (p.Gln926=) c.2695C= (p.Gln899=) n.3079C= | |
X | g.18628578C>G | CA412368221 | CDKL5 | c.2704C>G (p.Gln902Glu) c.2827C>G (p.Gln943Glu) c.2776C>G (p.Gln926Glu) c.2695C>G (p.Gln899Glu) n.3079C>G | |
X | g.18628578C>T | CA199394 | CDKL5 | c.2704C>T (p.Gln902Ter) c.2827C>T (p.Gln943Ter) c.2776C>T (p.Gln926Ter) c.2695C>T (p.Gln899Ter) n.3079C>T | ClinVar dbSNP |
X | g.18628579A>C | CA412368228 | CDKL5 | c.2705A>C (p.Gln902Pro) c.2828A>C (p.Gln943Pro) c.2777A>C (p.Gln926Pro) c.2696A>C (p.Gln899Pro) n.3080A>C | |
X | g.18628579A>G | CA412368232 | CDKL5 | c.2705A>G (p.Gln902Arg) c.2828A>G (p.Gln943Arg) c.2777A>G (p.Gln926Arg) c.2696A>G (p.Gln899Arg) n.3080A>G | |
X | g.18628579A>T | CA412368236 | CDKL5 | c.2705A>T (p.Gln902Leu) c.2828A>T (p.Gln943Leu) c.2777A>T (p.Gln926Leu) c.2696A>T (p.Gln899Leu) n.3080A>T | |
X | g.18628580G>A | CA515471808 | CDKL5 | c.2706G>A (p.Gln902=) c.2829G>A (p.Gln943=) c.2778G>A (p.Gln926=) c.2697G>A (p.Gln899=) n.3081G>A | |
X | g.18628580G>C | CA412368242 | CDKL5 | c.2706G>C (p.Gln902His) c.2829G>C (p.Gln943His) c.2778G>C (p.Gln926His) c.2697G>C (p.Gln899His) n.3081G>C | |
X | g.18628580G>T | CA412368244 | CDKL5 | c.2706G>T (p.Gln902His) c.2829G>T (p.Gln943His) c.2778G>T (p.Gln926His) c.2697G>T (p.Gln899His) n.3081G>T | ClinVar |
X | g.18628581C>A | CA412368251 | CDKL5 | c.2707C>A (p.Leu903Met) c.2830C>A (p.Leu944Met) c.2779C>A (p.Leu927Met) c.2698C>A (p.Leu900Met) n.3082C>A | |
X | g.18628581C= | CA2417982226 | CDKL5 | c.2707C= (p.Leu903=) c.2830C= (p.Leu944=) c.2779C= (p.Leu927=) c.2698C= (p.Leu900=) n.3082C= | |
X | g.18628581C>G | CA412368254 | CDKL5 | c.2707C>G (p.Leu903Val) c.2830C>G (p.Leu944Val) c.2779C>G (p.Leu927Val) c.2698C>G (p.Leu900Val) n.3082C>G | |
X | g.18628581C>T | CA515471816 | CDKL5 | c.2707C>T (p.Leu903=) c.2830C>T (p.Leu944=) c.2779C>T (p.Leu927=) c.2698C>T (p.Leu900=) n.3082C>T | dbSNP |
X | g.18628582T>A | CA412368259 | CDKL5 | c.2708T>A (p.Leu903Gln) c.2831T>A (p.Leu944Gln) c.2780T>A (p.Leu927Gln) c.2699T>A (p.Leu900Gln) n.3083T>A | |
X | g.18628582T>C | CA412368263 | CDKL5 | c.2708T>C (p.Leu903Pro) c.2831T>C (p.Leu944Pro) c.2780T>C (p.Leu927Pro) c.2699T>C (p.Leu900Pro) n.3083T>C | |
X | g.18628582T>G | CA412368267 | CDKL5 | c.2708T>G (p.Leu903Arg) c.2831T>G (p.Leu944Arg) c.2780T>G (p.Leu927Arg) c.2699T>G (p.Leu900Arg) n.3083T>G | |
X | g.18628583G>A | CA515471826 | CDKL5 | c.2709G>A (p.Leu903=) c.2832G>A (p.Leu944=) c.2781G>A (p.Leu927=) c.2700G>A (p.Leu900=) n.3084G>A | dbSNP gnomAD v2 gnomAD v4 |
X | g.18628583G>C | CA515471829 | CDKL5 | c.2709G>C (p.Leu903=) c.2832G>C (p.Leu944=) c.2781G>C (p.Leu927=) c.2700G>C (p.Leu900=) n.3084G>C | |
X | g.18628583G= | CA2417982227 | CDKL5 | c.2709G= (p.Leu903=) c.2832G= (p.Leu944=) c.2781G= (p.Leu927=) c.2700G= (p.Leu900=) n.3084G= | |
X | g.18628583G>T | CA515471830 | CDKL5 | c.2709G>T (p.Leu903=) c.2832G>T (p.Leu944=) c.2781G>T (p.Leu927=) c.2700G>T (p.Leu900=) n.3084G>T | |
X | g.18628584C>A | CA412368273 | CDKL5 | c.2710C>A (p.Pro904Thr) c.2833C>A (p.Pro945Thr) c.2782C>A (p.Pro928Thr) c.2701C>A (p.Pro901Thr) n.3085C>A | |
X | g.18628584C>G | CA412368277 | CDKL5 | c.2710C>G (p.Pro904Ala) c.2833C>G (p.Pro945Ala) c.2782C>G (p.Pro928Ala) c.2701C>G (p.Pro901Ala) n.3085C>G | |
X | g.18628584C>T | CA412368281 | CDKL5 | c.2710C>T (p.Pro904Ser) c.2833C>T (p.Pro945Ser) c.2782C>T (p.Pro928Ser) c.2701C>T (p.Pro901Ser) n.3085C>T | |
X | g.18628585del | CA2695231358 | CDKL5 | c.2711del (p.Pro904GlnfsTer13) c.2834del (p.Pro945GlnfsTer13) c.2711del (p.Pro904GlnfsTer23) c.2783del (p.Pro928GlnfsTer23) c.2702del (p.Pro901GlnfsTer23) n.3086del | |
X | g.18628585C>A | CA412368295 | CDKL5 | c.2711C>A (p.Pro904Gln) c.2834C>A (p.Pro945Gln) c.2783C>A (p.Pro928Gln) c.2702C>A (p.Pro901Gln) n.3086C>A | |
X | g.18628585C>G | CA412368290 | CDKL5 | c.2711C>G (p.Pro904Arg) c.2834C>G (p.Pro945Arg) c.2783C>G (p.Pro928Arg) c.2702C>G (p.Pro901Arg) n.3086C>G | |
X | g.18628585C>T | CA412368287 | CDKL5 | c.2711C>T (p.Pro904Leu) c.2834C>T (p.Pro945Leu) c.2783C>T (p.Pro928Leu) c.2702C>T (p.Pro901Leu) n.3086C>T | |
X | g.18628586A>C | CA515471842 | CDKL5 | c.2712A>C (p.Pro904=) c.2835A>C (p.Pro945=) c.2784A>C (p.Pro928=) c.2703A>C (p.Pro901=) n.3087A>C | |
X | g.18628586A>G | CA515471844 | CDKL5 | c.2712A>G (p.Pro904=) c.2835A>G (p.Pro945=) c.2784A>G (p.Pro928=) c.2703A>G (p.Pro901=) n.3087A>G | |
X | g.18628586A>T | CA515471846 | CDKL5 | c.2712A>T (p.Pro904=) c.2835A>T (p.Pro945=) c.2784A>T (p.Pro928=) c.2703A>T (p.Pro901=) n.3087A>T | |
X | g.18628587G>A | CA412368296 | CDKL5 | c.2713G>A (p.Gly905Ser) c.2836G>A (p.Gly946Ser) c.2713G>A (p.Asp905Asn) c.2785G>A (p.Asp929Asn) c.2704G>A (p.Asp902Asn) n.3088G>A | ClinVar gnomAD v4 |
X | g.18628587G>C | CA412368297 | CDKL5 | c.2713G>C (p.Gly905Arg) c.2836G>C (p.Gly946Arg) c.2713G>C (p.Asp905His) c.2785G>C (p.Asp929His) c.2704G>C (p.Asp902His) n.3088G>C | |
X | g.18628587G>T | CA412368301 | CDKL5 | c.2713G>T (p.Gly905Cys) c.2836G>T (p.Gly946Cys) c.2713G>T (p.Asp905Tyr) c.2785G>T (p.Asp929Tyr) c.2704G>T (p.Asp902Tyr) n.3088G>T | |
X | g.18628588G>A | CA412368306 | CDKL5 | c.2714G>A (p.Gly905Asp) c.2837G>A (p.Gly946Asp) c.2713+1G>A (n.2713+1G>A) c.2785+1G>A (n.2785+1G>A) c.2704+1G>A (n.2704+1G>A) n.3088+1G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18628588G>C | CA412368309 | CDKL5 | c.2714G>C (p.Gly905Ala) c.2837G>C (p.Gly946Ala) c.2713+1G>C (n.2713+1G>C) c.2785+1G>C (n.2785+1G>C) c.2704+1G>C (n.2704+1G>C) n.3088+1G>C | |
X | g.18628588G= | CA2417982228 | CDKL5 | c.2714G= (p.Gly905=) c.2837G= (p.Gly946=) c.2713+1G= (n.2713+1G=) c.2785+1G= (n.2785+1G=) c.2704+1G= (n.2704+1G=) n.3088+1G= | |
X | g.18628588G>T | CA412368312 | CDKL5 | c.2714G>T (p.Gly905Val) c.2837G>T (p.Gly946Val) c.2713+1G>T (n.2713+1G>T) c.2785+1G>T (n.2785+1G>T) c.2704+1G>T (n.2704+1G>T) n.3088+1G>T | gnomAD v4 |
X | g.18628589T>A | CA412368333 | CDKL5 | c.2715T>A (p.Gly905=) c.2838T>A (p.Gly946=) c.2713+2T>A (n.2713+2T>A) c.2785+2T>A (n.2785+2T>A) c.2704+2T>A (n.2704+2T>A) n.3088+2T>A | |
X | g.18628589T>C | CA412368344 | CDKL5 | c.2715T>C (p.Gly905=) c.2838T>C (p.Gly946=) c.2713+2T>C (n.2713+2T>C) c.2785+2T>C (n.2785+2T>C) c.2704+2T>C (n.2704+2T>C) n.3088+2T>C | |
X | g.18628589T>G | CA412368338 | CDKL5 | c.2715T>G (p.Gly905=) c.2838T>G (p.Gly946=) c.2713+2T>G (n.2713+2T>G) c.2785+2T>G (n.2785+2T>G) c.2704+2T>G (n.2704+2T>G) n.3088+2T>G | dbSNP gnomAD v4 |
X | g.18628589T= | CA2417982229 | CDKL5 | c.2715T= (p.Gly905=) c.2838T= (p.Gly946=) c.2713+2T= (n.2713+2T=) c.2785+2T= (n.2785+2T=) c.2704+2T= (n.2704+2T=) n.3088+2T= | |
X | g.18628590C>A | CA412368347 | CDKL5 | c.2716C>A (p.Gln906Lys) c.2839C>A (p.Gln947Lys) c.2713+3C>A (n.2713+3C>A) c.2785+3C>A (n.2785+3C>A) c.2704+3C>A (n.2704+3C>A) n.3088+3C>A | |
X | g.18628590C= | CA2417982230 | CDKL5 | c.2716C= (p.Gln906=) c.2839C= (p.Gln947=) c.2713+3C= (n.2713+3C=) c.2785+3C= (n.2785+3C=) c.2704+3C= (n.2704+3C=) n.3088+3C= | |
X | g.18628590C>G | CA412368348 | CDKL5 | c.2716C>G (p.Gln906Glu) c.2839C>G (p.Gln947Glu) c.2713+3C>G (n.2713+3C>G) c.2785+3C>G (n.2785+3C>G) c.2704+3C>G (n.2704+3C>G) n.3088+3C>G | |
X | g.18628590C>T | CA279638 | CDKL5 | c.2716C>T (p.Gln906Ter) c.2839C>T (p.Gln947Ter) c.2713+3C>T (n.2713+3C>T) c.2785+3C>T (n.2785+3C>T) c.2704+3C>T (n.2704+3C>T) n.3088+3C>T | ClinVar dbSNP |
X | g.18628591A>C | CA412368354 | CDKL5 | c.2717A>C (p.Gln906Pro) c.2840A>C (p.Gln947Pro) c.2713+4A>C (n.2713+4A>C) c.2785+4A>C (n.2785+4A>C) c.2704+4A>C (n.2704+4A>C) n.3088+4A>C | |
X | g.18628591A>G | CA412368359 | CDKL5 | c.2717A>G (p.Gln906Arg) c.2840A>G (p.Gln947Arg) c.2713+4A>G (n.2713+4A>G) c.2785+4A>G (n.2785+4A>G) c.2704+4A>G (n.2704+4A>G) n.3088+4A>G | |
X | g.18628591A>T | CA412368362 | CDKL5 | c.2717A>T (p.Gln906Leu) c.2840A>T (p.Gln947Leu) c.2713+4A>T (n.2713+4A>T) c.2785+4A>T (n.2785+4A>T) c.2704+4A>T (n.2704+4A>T) n.3088+4A>T | |
X | g.18628592G>C | CA412368366 | CDKL5 | c.2718G>C (p.Gln906His) c.2841G>C (p.Gln947His) c.2713+5G>C (n.2713+5G>C) c.2785+5G>C (n.2785+5G>C) c.2704+5G>C (n.2704+5G>C) n.3088+5G>C | |
X | g.18628592G>T | CA412368373 | CDKL5 | c.2718G>T (p.Gln906His) c.2841G>T (p.Gln947His) c.2713+5G>T (n.2713+5G>T) c.2785+5G>T (n.2785+5G>T) c.2704+5G>T (n.2704+5G>T) n.3088+5G>T | |
X | g.18628593A>C | CA412368378 | CDKL5 | c.2719A>C (p.Met907Leu) c.2842A>C (p.Met948Leu) c.2713+6A>C (n.2713+6A>C) c.2785+6A>C (n.2785+6A>C) c.2704+6A>C (n.2704+6A>C) n.3088+6A>C | |
X | g.18628593A>G | CA412368382 | CDKL5 | c.2719A>G (p.Met907Val) c.2842A>G (p.Met948Val) c.2713+6A>G (n.2713+6A>G) c.2785+6A>G (n.2785+6A>G) c.2704+6A>G (n.2704+6A>G) n.3088+6A>G | |
X | g.18628593A>T | CA412368385 | CDKL5 | c.2719A>T (p.Met907Leu) c.2842A>T (p.Met948Leu) c.2713+6A>T (n.2713+6A>T) c.2785+6A>T (n.2785+6A>T) c.2704+6A>T (n.2704+6A>T) n.3088+6A>T | |
X | g.18628594T>A | CA412368387 | CDKL5 | c.2720T>A (p.Met907Lys) c.2843T>A (p.Met948Lys) c.2713+7T>A (n.2713+7T>A) c.2785+7T>A (n.2785+7T>A) c.2704+7T>A (n.2704+7T>A) n.3088+7T>A | |
X | g.18628594T>C | CA412368391 | CDKL5 | c.2720T>C (p.Met907Thr) c.2843T>C (p.Met948Thr) c.2713+7T>C (n.2713+7T>C) c.2785+7T>C (n.2785+7T>C) c.2704+7T>C (n.2704+7T>C) n.3088+7T>C | |
X | g.18628594T>G | CA412368388 | CDKL5 | c.2720T>G (p.Met907Arg) c.2843T>G (p.Met948Arg) c.2713+7T>G (n.2713+7T>G) c.2785+7T>G (n.2785+7T>G) c.2704+7T>G (n.2704+7T>G) n.3088+7T>G | |
X | g.18628595G>A | CA412368396 | CDKL5 | c.2721G>A (p.Met907Ile) c.2844G>A (p.Met948Ile) c.2713+8G>A (n.2713+8G>A) c.2785+8G>A (n.2785+8G>A) c.2704+8G>A (n.2704+8G>A) n.3088+8G>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.18628595G>C | CA412368401 | CDKL5 | c.2721G>C (p.Met907Ile) c.2844G>C (p.Met948Ile) c.2713+8G>C (n.2713+8G>C) c.2785+8G>C (n.2785+8G>C) c.2704+8G>C (n.2704+8G>C) n.3088+8G>C | |
X | g.18628595G= | CA2417982231 | CDKL5 | c.2721G= (p.Met907=) c.2844G= (p.Met948=) c.2713+8G= (n.2713+8G=) c.2785+8G= (n.2785+8G=) c.2704+8G= (n.2704+8G=) n.3088+8G= | |
X | g.18628595G>T | CA412368405 | CDKL5 | c.2721G>T (p.Met907Ile) c.2844G>T (p.Met948Ile) c.2713+8G>T (n.2713+8G>T) c.2785+8G>T (n.2785+8G>T) c.2704+8G>T (n.2704+8G>T) n.3088+8G>T | |
X | g.18628596G>A | CA412368414 | CDKL5 | c.2722G>A (p.Asp908Asn) c.2845G>A (p.Asp949Asn) c.2713+9G>A (n.2713+9G>A) c.2785+9G>A (n.2785+9G>A) c.2704+9G>A (n.2704+9G>A) n.3088+9G>A | |
X | g.18628596G>C | CA412368421 | CDKL5 | c.2722G>C (p.Asp908His) c.2845G>C (p.Asp949His) c.2713+9G>C (n.2713+9G>C) c.2785+9G>C (n.2785+9G>C) c.2704+9G>C (n.2704+9G>C) n.3088+9G>C | |
X | g.18628596G>T | CA412368423 | CDKL5 | c.2722G>T (p.Asp908Tyr) c.2845G>T (p.Asp949Tyr) c.2713+9G>T (n.2713+9G>T) c.2785+9G>T (n.2785+9G>T) c.2704+9G>T (n.2704+9G>T) n.3088+9G>T | |
X | g.18628597A>C | CA412368429 | CDKL5 | c.2723A>C (p.Asp908Ala) c.2846A>C (p.Asp949Ala) c.2713+10A>C (n.2713+10A>C) c.2785+10A>C (n.2785+10A>C) c.2704+10A>C (n.2704+10A>C) n.3088+10A>C | |
X | g.18628597A>G | CA412368434 | CDKL5 | c.2723A>G (p.Asp908Gly) c.2846A>G (p.Asp949Gly) c.2713+10A>G (n.2713+10A>G) c.2785+10A>G (n.2785+10A>G) c.2704+10A>G (n.2704+10A>G) n.3088+10A>G | |
X | g.18628597A>T | CA412368436 | CDKL5 | c.2723A>T (p.Asp908Val) c.2846A>T (p.Asp949Val) c.2713+10A>T (n.2713+10A>T) c.2785+10A>T (n.2785+10A>T) c.2704+10A>T (n.2704+10A>T) n.3088+10A>T | |
X | g.18628598T>A | CA412368441 | CDKL5 | c.2724T>A (p.Asp908Glu) c.2847T>A (p.Asp949Glu) c.2713+11T>A (n.2713+11T>A) c.2785+11T>A (n.2785+11T>A) c.2704+11T>A (n.2704+11T>A) n.3088+11T>A | |
X | g.18628598T>C | CA2579563125 | CDKL5 | c.2724T>C (p.Asp908=) c.2847T>C (p.Asp949=) c.2713+11T>C (n.2713+11T>C) c.2785+11T>C (n.2785+11T>C) c.2704+11T>C (n.2704+11T>C) n.3088+11T>C | |
X | g.18628598T>G | CA412368444 | CDKL5 | c.2724T>G (p.Asp908Glu) c.2847T>G (p.Asp949Glu) c.2713+11T>G (n.2713+11T>G) c.2785+11T>G (n.2785+11T>G) c.2704+11T>G (n.2704+11T>G) n.3088+11T>G | |
X | g.18628599C>A | CA412368458 | CDKL5 | c.2725C>A (p.Pro909Thr) c.2848C>A (p.Pro950Thr) c.2713+12C>A (n.2713+12C>A) c.2785+12C>A (n.2785+12C>A) c.2704+12C>A (n.2704+12C>A) n.3088+12C>A | |
X | g.18628599C>G | CA412368454 | CDKL5 | c.2725C>G (p.Pro909Ala) c.2848C>G (p.Pro950Ala) c.2713+12C>G (n.2713+12C>G) c.2785+12C>G (n.2785+12C>G) c.2704+12C>G (n.2704+12C>G) n.3088+12C>G | |
X | g.18628599C>T | CA412368450 | CDKL5 | c.2725C>T (p.Pro909Ser) c.2848C>T (p.Pro950Ser) c.2713+12C>T (n.2713+12C>T) c.2785+12C>T (n.2785+12C>T) c.2704+12C>T (n.2704+12C>T) n.3088+12C>T | |
X | g.18628600C>A | CA412368463 | CDKL5 | c.2726C>A (p.Pro909His) c.2849C>A (p.Pro950His) c.2713+13C>A (n.2713+13C>A) c.2785+13C>A (n.2785+13C>A) c.2704+13C>A (n.2704+13C>A) n.3088+13C>A | |
X | g.18628600C>G | CA412368468 | CDKL5 | c.2726C>G (p.Pro909Arg) c.2849C>G (p.Pro950Arg) c.2713+13C>G (n.2713+13C>G) c.2785+13C>G (n.2785+13C>G) c.2704+13C>G (n.2704+13C>G) n.3088+13C>G | |
X | g.18628600C>T | CA412368473 | CDKL5 | c.2726C>T (p.Pro909Leu) c.2849C>T (p.Pro950Leu) c.2713+13C>T (n.2713+13C>T) c.2785+13C>T (n.2785+13C>T) c.2704+13C>T (n.2704+13C>T) n.3088+13C>T | gnomAD v4 |
X | g.18628602G>A | CA412368478 | CDKL5 | c.2728G>A (p.Gly910Ser) c.2851G>A (p.Gly951Ser) c.2713+15G>A (n.2713+15G>A) c.2785+15G>A (n.2785+15G>A) c.2704+15G>A (n.2704+15G>A) n.3088+15G>A | |
X | g.18628602G>C | CA412368482 | CDKL5 | c.2728G>C (p.Gly910Arg) c.2851G>C (p.Gly951Arg) c.2713+15G>C (n.2713+15G>C) c.2785+15G>C (n.2785+15G>C) c.2704+15G>C (n.2704+15G>C) n.3088+15G>C | |
X | g.18628602G>T | CA412368487 | CDKL5 | c.2728G>T (p.Gly910Cys) c.2851G>T (p.Gly951Cys) c.2713+15G>T (n.2713+15G>T) c.2785+15G>T (n.2785+15G>T) c.2704+15G>T (n.2704+15G>T) n.3088+15G>T | |
X | g.18628603G>A | CA412368493 | CDKL5 | c.2729G>A (p.Gly910Asp) c.2852G>A (p.Gly951Asp) c.2713+16G>A (n.2713+16G>A) c.2785+16G>A (n.2785+16G>A) c.2704+16G>A (n.2704+16G>A) n.3088+16G>A | |
X | g.18628603G>C | CA412368497 | CDKL5 | c.2729G>C (p.Gly910Ala) c.2852G>C (p.Gly951Ala) c.2713+16G>C (n.2713+16G>C) c.2785+16G>C (n.2785+16G>C) c.2704+16G>C (n.2704+16G>C) n.3088+16G>C | |
X | g.18628603G= | CA2417982232 | CDKL5 | c.2729G= (p.Gly910=) c.2852G= (p.Gly951=) c.2713+16G= (n.2713+16G=) c.2785+16G= (n.2785+16G=) c.2704+16G= (n.2704+16G=) n.3088+16G= | |
X | g.18628603G>T | CA10360573 | CDKL5 | c.2729G>T (p.Gly910Val) c.2852G>T (p.Gly951Val) c.2713+16G>T (n.2713+16G>T) c.2785+16G>T (n.2785+16G>T) c.2704+16G>T (n.2704+16G>T) n.3088+16G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.18628605T>A | CA412368509 | CDKL5 | c.2731T>A (p.Trp911Arg) c.2854T>A (p.Trp952Arg) c.2713+18T>A (n.2713+18T>A) c.2785+18T>A (n.2785+18T>A) c.2704+18T>A (n.2704+18T>A) n.3088+18T>A | |
X | g.18628605T>C | CA412368513 | CDKL5 | c.2731T>C (p.Trp911Arg) c.2854T>C (p.Trp952Arg) c.2713+18T>C (n.2713+18T>C) c.2785+18T>C (n.2785+18T>C) c.2704+18T>C (n.2704+18T>C) n.3088+18T>C | |
X | g.18628605T>G | CA412368517 | CDKL5 | c.2731T>G (p.Trp911Gly) c.2854T>G (p.Trp952Gly) c.2713+18T>G (n.2713+18T>G) c.2785+18T>G (n.2785+18T>G) c.2704+18T>G (n.2704+18T>G) n.3088+18T>G | |
X | g.18628606G>A | CA412368528 | CDKL5 | c.2732G>A (p.Trp911Ter) c.2855G>A (p.Trp952Ter) c.2713+19G>A (n.2713+19G>A) c.2785+19G>A (n.2785+19G>A) c.2704+19G>A (n.2704+19G>A) n.3088+19G>A | |
X | g.18628606G>C | CA412368530 | CDKL5 | c.2732G>C (p.Trp911Ser) c.2855G>C (p.Trp952Ser) c.2713+19G>C (n.2713+19G>C) c.2785+19G>C (n.2785+19G>C) c.2704+19G>C (n.2704+19G>C) n.3088+19G>C | |
X | g.18628606G>T | CA412368520 | CDKL5 | c.2732G>T (p.Trp911Leu) c.2855G>T (p.Trp952Leu) c.2713+19G>T (n.2713+19G>T) c.2785+19G>T (n.2785+19G>T) c.2704+19G>T (n.2704+19G>T) n.3088+19G>T | |
X | g.18628607G>A | CA412368561 | CDKL5 | c.2733G>A (p.Trp911Ter) c.2856G>A (p.Trp952Ter) c.2713+20G>A (n.2713+20G>A) c.2785+20G>A (n.2785+20G>A) c.2704+20G>A (n.2704+20G>A) n.3088+20G>A | ClinVar dbSNP |
X | g.18628607G>C | CA412368553 | CDKL5 | c.2733G>C (p.Trp911Cys) c.2856G>C (p.Trp952Cys) c.2713+20G>C (n.2713+20G>C) c.2785+20G>C (n.2785+20G>C) c.2704+20G>C (n.2704+20G>C) n.3088+20G>C | |
X | g.18628607G= | CA2417982233 | CDKL5 | c.2733G= (p.Trp911=) c.2856G= (p.Trp952=) c.2713+20G= (n.2713+20G=) c.2785+20G= (n.2785+20G=) c.2704+20G= (n.2704+20G=) n.3088+20G= | |
X | g.18628607G>T | CA412368557 | CDKL5 | c.2733G>T (p.Trp911Cys) c.2856G>T (p.Trp952Cys) c.2713+20G>T (n.2713+20G>T) c.2785+20G>T (n.2785+20G>T) c.2704+20G>T (n.2704+20G>T) n.3088+20G>T | |
X | g.18628608C>A | CA412368568 | CDKL5 | c.2734C>A (p.His912Asn) c.2857C>A (p.His953Asn) c.2713+21C>A (n.2713+21C>A) c.2785+21C>A (n.2785+21C>A) c.2704+21C>A (n.2704+21C>A) n.3088+21C>A | |
X | g.18628608C>G | CA412368571 | CDKL5 | c.2734C>G (p.His912Asp) c.2857C>G (p.His953Asp) c.2713+21C>G (n.2713+21C>G) c.2785+21C>G (n.2785+21C>G) c.2704+21C>G (n.2704+21C>G) n.3088+21C>G | |
X | g.18628608C>T | CA412368575 | CDKL5 | c.2734C>T (p.His912Tyr) c.2857C>T (p.His953Tyr) c.2713+21C>T (n.2713+21C>T) c.2785+21C>T (n.2785+21C>T) c.2704+21C>T (n.2704+21C>T) n.3088+21C>T | |
X | g.18628609A>C | CA412368581 | CDKL5 | c.2735A>C (p.His912Pro) c.2858A>C (p.His953Pro) c.2713+22A>C (n.2713+22A>C) c.2785+22A>C (n.2785+22A>C) c.2704+22A>C (n.2704+22A>C) n.3088+22A>C | |
X | g.18628609A>G | CA412368589 | CDKL5 | c.2735A>G (p.His912Arg) c.2858A>G (p.His953Arg) c.2713+22A>G (n.2713+22A>G) c.2785+22A>G (n.2785+22A>G) c.2704+22A>G (n.2704+22A>G) n.3088+22A>G | gnomAD v4 |
X | g.18628609A>T | CA412368593 | CDKL5 | c.2735A>T (p.His912Leu) c.2858A>T (p.His953Leu) c.2713+22A>T (n.2713+22A>T) c.2785+22A>T (n.2785+22A>T) c.2704+22A>T (n.2704+22A>T) n.3088+22A>T | |
X | g.18628610T>A | CA412368597 | CDKL5 | c.2736T>A (p.His912Gln) c.2859T>A (p.His953Gln) c.2713+23T>A (n.2713+23T>A) c.2785+23T>A (n.2785+23T>A) c.2704+23T>A (n.2704+23T>A) n.3088+23T>A | |
X | g.18628610T>C | CA2417982235 | CDKL5 | c.2736T>C (p.His912=) c.2859T>C (p.His953=) c.2713+23T>C (n.2713+23T>C) c.2785+23T>C (n.2785+23T>C) c.2704+23T>C (n.2704+23T>C) n.3088+23T>C | dbSNP gnomAD v4 |
X | g.18628610T>G | CA412368602 | CDKL5 | c.2736T>G (p.His912Gln) c.2859T>G (p.His953Gln) c.2713+23T>G (n.2713+23T>G) c.2785+23T>G (n.2785+23T>G) c.2704+23T>G (n.2704+23T>G) n.3088+23T>G | |
X | g.18628610T= | CA2417982234 | CDKL5 | c.2736T= (p.His912=) c.2859T= (p.His953=) c.2713+23T= (n.2713+23T=) c.2785+23T= (n.2785+23T=) c.2704+23T= (n.2704+23T=) n.3088+23T= | |
X | g.18628611G>A | CA412368607 | CDKL5 | c.2737G>A (p.Val913Met) c.2860G>A (p.Val954Met) c.2713+24G>A (n.2713+24G>A) c.2785+24G>A (n.2785+24G>A) c.2704+24G>A (n.2704+24G>A) n.3088+24G>A | |
X | g.18628611G>C | CA412368610 | CDKL5 | c.2737G>C (p.Val913Leu) c.2860G>C (p.Val954Leu) c.2713+24G>C (n.2713+24G>C) c.2785+24G>C (n.2785+24G>C) c.2704+24G>C (n.2704+24G>C) n.3088+24G>C | |
X | g.18628611G>T | CA412368611 | CDKL5 | c.2737G>T (p.Val913Leu) c.2860G>T (p.Val954Leu) c.2713+24G>T (n.2713+24G>T) c.2785+24G>T (n.2785+24G>T) c.2704+24G>T (n.2704+24G>T) n.3088+24G>T | |
X | g.18628612T>A | CA412368619 | CDKL5 | c.2738T>A (p.Val913Glu) c.2861T>A (p.Val954Glu) c.2713+25T>A (n.2713+25T>A) c.2785+25T>A (n.2785+25T>A) c.2704+25T>A (n.2704+25T>A) n.3088+25T>A | |
X | g.18628612T>C | CA412368615 | CDKL5 | c.2738T>C (p.Val913Ala) c.2861T>C (p.Val954Ala) c.2713+25T>C (n.2713+25T>C) c.2785+25T>C (n.2785+25T>C) c.2704+25T>C (n.2704+25T>C) n.3088+25T>C | |
X | g.18628612T>G | CA412368616 | CDKL5 | c.2738T>G (p.Val913Gly) c.2861T>G (p.Val954Gly) c.2713+25T>G (n.2713+25T>G) c.2785+25T>G (n.2785+25T>G) c.2704+25T>G (n.2704+25T>G) n.3088+25T>G | |
X | g.18628614T>A | CA412368623 | CDKL5 | c.2740T>A (p.Ser914Thr) c.2863T>A (p.Ser955Thr) c.2713+27T>A (n.2713+27T>A) c.2785+27T>A (n.2785+27T>A) c.2704+27T>A (n.2704+27T>A) n.3088+27T>A | |
X | g.18628614T>C | CA412368626 | CDKL5 | c.2740T>C (p.Ser914Pro) c.2863T>C (p.Ser955Pro) c.2713+27T>C (n.2713+27T>C) c.2785+27T>C (n.2785+27T>C) c.2704+27T>C (n.2704+27T>C) n.3088+27T>C | |
X | g.18628614T>G | CA412368636 | CDKL5 | c.2740T>G (p.Ser914Ala) c.2863T>G (p.Ser955Ala) c.2713+27T>G (n.2713+27T>G) c.2785+27T>G (n.2785+27T>G) c.2704+27T>G (n.2704+27T>G) n.3088+27T>G | |
X | g.18628615C>A | CA412368640 | CDKL5 | c.2741C>A (p.Ser914Tyr) c.2864C>A (p.Ser955Tyr) c.2713+28C>A (n.2713+28C>A) c.2785+28C>A (n.2785+28C>A) c.2704+28C>A (n.2704+28C>A) n.3088+28C>A | |
X | g.18628615C>G | CA412368645 | CDKL5 | c.2741C>G (p.Ser914Cys) c.2864C>G (p.Ser955Cys) c.2713+28C>G (n.2713+28C>G) c.2785+28C>G (n.2785+28C>G) c.2704+28C>G (n.2704+28C>G) n.3088+28C>G | |
X | g.18628615C>T | CA412368647 | CDKL5 | c.2741C>T (p.Ser914Phe) c.2864C>T (p.Ser955Phe) c.2713+28C>T (n.2713+28C>T) c.2785+28C>T (n.2785+28C>T) c.2704+28C>T (n.2704+28C>T) n.3088+28C>T | |
X | g.18628616C>T | CA2693224085 | CDKL5 | c.2742C>T (p.Ser914=) c.2865C>T (p.Ser955=) c.2713+29C>T (n.2713+29C>T) c.2785+29C>T (n.2785+29C>T) c.2704+29C>T (n.2704+29C>T) n.3088+29C>T | gnomAD v4 |
X | g.18628617T>A | CA412368653 | CDKL5 | c.2743T>A (p.Ser915Thr) c.2866T>A (p.Ser956Thr) c.2713+30T>A (n.2713+30T>A) c.2785+30T>A (n.2785+30T>A) c.2704+30T>A (n.2704+30T>A) n.3088+30T>A | |
X | g.18628617T>C | CA412368657 | CDKL5 | c.2743T>C (p.Ser915Pro) c.2866T>C (p.Ser956Pro) c.2713+30T>C (n.2713+30T>C) c.2785+30T>C (n.2785+30T>C) c.2704+30T>C (n.2704+30T>C) n.3088+30T>C | |
X | g.18628617T>G | CA412368665 | CDKL5 | c.2743T>G (p.Ser915Ala) c.2866T>G (p.Ser956Ala) c.2713+30T>G (n.2713+30T>G) c.2785+30T>G (n.2785+30T>G) c.2704+30T>G (n.2704+30T>G) n.3088+30T>G | |
X | g.18628618C>A | CA412368673 | CDKL5 | c.2744C>A (p.Ser915Tyr) c.2867C>A (p.Ser956Tyr) c.2713+31C>A (n.2713+31C>A) c.2785+31C>A (n.2785+31C>A) c.2704+31C>A (n.2704+31C>A) n.3088+31C>A | |
X | g.18628618C>G | CA412368678 | CDKL5 | c.2744C>G (p.Ser915Cys) c.2867C>G (p.Ser956Cys) c.2713+31C>G (n.2713+31C>G) c.2785+31C>G (n.2785+31C>G) c.2704+31C>G (n.2704+31C>G) n.3088+31C>G | |
X | g.18628618C>T | CA412368679 | CDKL5 | c.2744C>T (p.Ser915Phe) c.2867C>T (p.Ser956Phe) c.2713+31C>T (n.2713+31C>T) c.2785+31C>T (n.2785+31C>T) c.2704+31C>T (n.2704+31C>T) n.3088+31C>T | |
X | g.18628620G>A | CA412368686 | CDKL5 | c.2746G>A (p.Val916Met) c.2869G>A (p.Val957Met) c.2713+33G>A (n.2713+33G>A) c.2785+33G>A (n.2785+33G>A) c.2704+33G>A (n.2704+33G>A) n.3088+33G>A | |
X | g.18628620G>C | CA412368683 | CDKL5 | c.2746G>C (p.Val916Leu) c.2869G>C (p.Val957Leu) c.2713+33G>C (n.2713+33G>C) c.2785+33G>C (n.2785+33G>C) c.2704+33G>C (n.2704+33G>C) n.3088+33G>C | gnomAD v4 |
X | g.18628620G>T | CA412368680 | CDKL5 | c.2746G>T (p.Val916Leu) c.2869G>T (p.Val957Leu) c.2713+33G>T (n.2713+33G>T) c.2785+33G>T (n.2785+33G>T) c.2704+33G>T (n.2704+33G>T) n.3088+33G>T | |
X | g.18628621T>A | CA412368691 | CDKL5 | c.2747T>A (p.Val916Glu) c.2870T>A (p.Val957Glu) c.2713+34T>A (n.2713+34T>A) c.2785+34T>A (n.2785+34T>A) c.2704+34T>A (n.2704+34T>A) n.3088+34T>A | |
X | g.18628621T>C | CA412368687 | CDKL5 | c.2747T>C (p.Val916Ala) c.2870T>C (p.Val957Ala) c.2713+34T>C (n.2713+34T>C) c.2785+34T>C (n.2785+34T>C) c.2704+34T>C (n.2704+34T>C) n.3088+34T>C | |
X | g.18628621T>G | CA412368688 | CDKL5 | c.2747T>G (p.Val916Gly) c.2870T>G (p.Val957Gly) c.2713+34T>G (n.2713+34T>G) c.2785+34T>G (n.2785+34T>G) c.2704+34T>G (n.2704+34T>G) n.3088+34T>G | |
X | g.18628623A>C | CA412368696 | CDKL5 | c.2749A>C (p.Thr917Pro) c.2872A>C (p.Thr958Pro) c.2713+36A>C (n.2713+36A>C) c.2785+36A>C (n.2785+36A>C) c.2704+36A>C (n.2704+36A>C) n.3088+36A>C | |
X | g.18628623A>G | CA412368700 | CDKL5 | c.2749A>G (p.Thr917Ala) c.2872A>G (p.Thr958Ala) c.2713+36A>G (n.2713+36A>G) c.2785+36A>G (n.2785+36A>G) c.2704+36A>G (n.2704+36A>G) n.3088+36A>G | |
X | g.18628623A>T | CA412368702 | CDKL5 | c.2749A>T (p.Thr917Ser) c.2872A>T (p.Thr958Ser) c.2713+36A>T (n.2713+36A>T) c.2785+36A>T (n.2785+36A>T) c.2704+36A>T (n.2704+36A>T) n.3088+36A>T | |
X | g.18628624C>A | CA412368708 | CDKL5 | c.2750C>A (p.Thr917Asn) c.2873C>A (p.Thr958Asn) c.2713+37C>A (n.2713+37C>A) c.2785+37C>A (n.2785+37C>A) c.2704+37C>A (n.2704+37C>A) n.3088+37C>A | |
X | g.18628624C>G | CA412368711 | CDKL5 | c.2750C>G (p.Thr917Ser) c.2873C>G (p.Thr958Ser) c.2713+37C>G (n.2713+37C>G) c.2785+37C>G (n.2785+37C>G) c.2704+37C>G (n.2704+37C>G) n.3088+37C>G | |
X | g.18628624C>T | CA412368715 | CDKL5 | c.2750C>T (p.Thr917Ile) c.2873C>T (p.Thr958Ile) c.2713+37C>T (n.2713+37C>T) c.2785+37C>T (n.2785+37C>T) c.2704+37C>T (n.2704+37C>T) n.3088+37C>T | |
X | g.18628625C>A | CA2579563126 | CDKL5 | c.2751C>A (p.Thr917=) c.2874C>A (p.Thr958=) c.2713+38C>A (n.2713+38C>A) c.2785+38C>A (n.2785+38C>A) c.2704+38C>A (n.2704+38C>A) n.3088+38C>A | |
X | g.18628625C= | CA2417982236 | CDKL5 | c.2751C= (p.Thr917=) c.2874C= (p.Thr958=) c.2713+38C= (n.2713+38C=) c.2785+38C= (n.2785+38C=) c.2704+38C= (n.2704+38C=) n.3088+38C= | |
X | g.18628625C>T | CA2417982237 | CDKL5 | c.2751C>T (p.Thr917=) c.2874C>T (p.Thr958=) c.2713+38C>T (n.2713+38C>T) c.2785+38C>T (n.2785+38C>T) c.2704+38C>T (n.2704+38C>T) n.3088+38C>T | dbSNP gnomAD v4 |
X | g.18628626A>C | CA2579563127 | CDKL5 | c.2752A>C (p.Arg918=) c.2875A>C (p.Arg959=) c.2713+39A>C (n.2713+39A>C) c.2785+39A>C (n.2785+39A>C) c.2704+39A>C (n.2704+39A>C) n.3088+39A>C | |
X | g.18628626A>G | CA412368723 | CDKL5 | c.2752A>G (p.Arg918Gly) c.2875A>G (p.Arg959Gly) c.2713+39A>G (n.2713+39A>G) c.2785+39A>G (n.2785+39A>G) c.2704+39A>G (n.2704+39A>G) n.3088+39A>G | |
X | g.18628626A>T | CA412368726 | CDKL5 | c.2752A>T (p.Arg918Trp) c.2875A>T (p.Arg959Trp) c.2713+39A>T (n.2713+39A>T) c.2785+39A>T (n.2785+39A>T) c.2704+39A>T (n.2704+39A>T) n.3088+39A>T | |
X | g.18628627G>A | CA412368730 | CDKL5 | c.2753G>A (p.Arg918Lys) c.2876G>A (p.Arg959Lys) c.2713+40G>A (n.2713+40G>A) c.2785+40G>A (n.2785+40G>A) c.2704+40G>A (n.2704+40G>A) n.3088+40G>A | |
X | g.18628627G>C | CA412368731 | CDKL5 | c.2753G>C (p.Arg918Thr) c.2876G>C (p.Arg959Thr) c.2713+40G>C (n.2713+40G>C) c.2785+40G>C (n.2785+40G>C) c.2704+40G>C (n.2704+40G>C) n.3088+40G>C | |
X | g.18628627G>T | CA412368732 | CDKL5 | c.2753G>T (p.Arg918Met) c.2876G>T (p.Arg959Met) c.2713+40G>T (n.2713+40G>T) c.2785+40G>T (n.2785+40G>T) c.2704+40G>T (n.2704+40G>T) n.3088+40G>T | |
X | g.18628628G>C | CA412368740 | CDKL5 | c.2754G>C (p.Arg918Ser) c.2877G>C (p.Arg959Ser) c.2713+41G>C (n.2713+41G>C) c.2785+41G>C (n.2785+41G>C) c.2704+41G>C (n.2704+41G>C) n.3088+41G>C | |
X | g.18628628G>T | CA412368736 | CDKL5 | c.2754G>T (p.Arg918Ser) c.2877G>T (p.Arg959Ser) c.2713+41G>T (n.2713+41G>T) c.2785+41G>T (n.2785+41G>T) c.2704+41G>T (n.2704+41G>T) n.3088+41G>T | |
X | g.18628629A>C | CA412368744 | CDKL5 | c.2755A>C (p.Ser919Arg) c.2878A>C (p.Ser960Arg) c.2713+42A>C (n.2713+42A>C) c.2785+42A>C (n.2785+42A>C) c.2704+42A>C (n.2704+42A>C) n.3088+42A>C | |
X | g.18628629A>G | CA412368745 | CDKL5 | c.2755A>G (p.Ser919Gly) c.2878A>G (p.Ser960Gly) c.2713+42A>G (n.2713+42A>G) c.2785+42A>G (n.2785+42A>G) c.2704+42A>G (n.2704+42A>G) n.3088+42A>G | |
X | g.18628629A>T | CA412368746 | CDKL5 | c.2755A>T (p.Ser919Cys) c.2878A>T (p.Ser960Cys) c.2713+42A>T (n.2713+42A>T) c.2785+42A>T (n.2785+42A>T) c.2704+42A>T (n.2704+42A>T) n.3088+42A>T | |
X | g.18628630G>A | CA412368749 | CDKL5 | c.2756G>A (p.Ser919Asn) c.2879G>A (p.Ser960Asn) c.2713+43G>A (n.2713+43G>A) c.2785+43G>A (n.2785+43G>A) c.2704+43G>A (n.2704+43G>A) n.3088+43G>A | dbSNP |
X | g.18628630G>C | CA412368751 | CDKL5 | c.2756G>C (p.Ser919Thr) c.2879G>C (p.Ser960Thr) c.2713+43G>C (n.2713+43G>C) c.2785+43G>C (n.2785+43G>C) c.2704+43G>C (n.2704+43G>C) n.3088+43G>C | |
X | g.18628630G>T | CA412368755 | CDKL5 | c.2756G>T (p.Ser919Ile) c.2879G>T (p.Ser960Ile) c.2713+43G>T (n.2713+43G>T) c.2785+43G>T (n.2785+43G>T) c.2704+43G>T (n.2704+43G>T) n.3088+43G>T | gnomAD v4 |