Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25012929A= | CA2420209058 | ARX | c.1066T= (p.Phe356=) | |
X | g.25012929A>C | CA412611835 | ARX | c.1066T>G (p.Phe356Val) | |
X | g.25012929A>G | CA412611836 | ARX | c.1066T>C (p.Phe356Leu) | gnomAD v4 |
X | g.25012929A>T | CA412611837 | ARX | c.1066T>A (p.Phe356Ile) | COSMIC |
X | g.25012930G>A | CA515946927 | ARX | c.1065C>T (p.Val355=) | |
X | g.25012930G>C | CA515946928 | ARX | c.1065C>G (p.Val355=) | |
X | g.25012930G>T | CA515946929 | ARX | c.1065C>A (p.Val355=) | gnomAD v4 |
X | g.25012932_25012933insAAGGAC | CA645373292 | ARX | c.1065_1066insCTTGTC (p.Val355_Phe356insLeuVal) | ClinVar dbSNP |
X | g.25012931A>C | CA412611838 | ARX | c.1064T>G (p.Val355Gly) | |
X | g.25012931A>G | CA412611839 | ARX | c.1064T>C (p.Val355Ala) | gnomAD v4 |
X | g.25012931A>T | CA412611840 | ARX | c.1064T>A (p.Val355Asp) | |
X | g.25012932C>A | CA412611841 | ARX | c.1063G>T (p.Val355Phe) | |
X | g.25012932C>G | CA412611842 | ARX | c.1063G>C (p.Val355Leu) | |
X | g.25012932C>T | CA412611843 | ARX | c.1063G>A (p.Val355Ile) | |
X | g.25012933G>A | CA515946930 | ARX | c.1062C>T (p.Asp354=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25012933G>C | CA412611844 | ARX | c.1062C>G (p.Asp354Glu) | |
X | g.25012933G= | CA2420209059 | ARX | c.1062C= (p.Asp354=) | |
X | g.25012933G>T | CA412611845 | ARX | c.1062C>A (p.Asp354Glu) | |
X | g.25012934T>A | CA412611846 | ARX | c.1061A>T (p.Asp354Val) | |
X | g.25012934T>C | CA412611847 | ARX | c.1061A>G (p.Asp354Gly) | |
X | g.25012934T>G | CA412611848 | ARX | c.1061A>C (p.Asp354Ala) | |
X | g.25012935C>A | CA412611849 | ARX | c.1060G>T (p.Asp354Tyr) | |
X | g.25012935C= | CA2420209060 | ARX | c.1060G= (p.Asp354=) | |
X | g.25012935C>G | CA412611850 | ARX | c.1060G>C (p.Asp354His) | |
X | g.25012935C>T | CA224118 | ARX | c.1060G>A (p.Asp354Asn) | dbSNP |
X | g.25012936C>A | CA515946931 | ARX | c.1059G>T (p.Pro353=) | gnomAD v4 |
X | g.25012936C= | CA2420209061 | ARX | c.1059G= (p.Pro353=) | |
X | g.25012936C>G | CA515946932 | ARX | c.1059G>C (p.Pro353=) | dbSNP |
X | g.25012936C>T | CA16616468 | ARX | c.1059G>A (p.Pro353=) | ClinVar dbSNP gnomAD v4 |
X | g.25012937G>A | CA121410 | ARX | c.1058C>T (p.Pro353Leu) | ClinVar dbSNP gnomAD v4 |
X | g.25012937G>C | CA412611851 | ARX | c.1058C>G (p.Pro353Arg) | |
X | g.25012937G= | CA2420209062 | ARX | c.1058C= (p.Pro353=) | |
X | g.25012937G>T | CA412611852 | ARX | c.1058C>A (p.Pro353Gln) | |
X | g.25012938G>A | CA412611853 | ARX | c.1057C>T (p.Pro353Ser) | |
X | g.25012938G>C | CA412611854 | ARX | c.1057C>G (p.Pro353Ala) | |
X | g.25012938G>T | CA412611855 | ARX | c.1057C>A (p.Pro353Thr) | |
X | g.25012939G>A | CA515946933 | ARX | c.1056C>T (p.Tyr352=) | gnomAD v4 |
X | g.25012939G>C | CA412611856 | ARX | c.1056C>G (p.Tyr352Ter) | |
X | g.25012939G>T | CA412611857 | ARX | c.1056C>A (p.Tyr352Ter) | gnomAD v4 |
X | g.25012940T>A | CA412611858 | ARX | c.1055A>T (p.Tyr352Phe) | |
X | g.25012940T>C | CA412611860 | ARX | c.1055A>G (p.Tyr352Cys) | |
X | g.25012940T>G | CA412611859 | ARX | c.1055A>C (p.Tyr352Ser) | |
X | g.25012941A= | CA2420209063 | ARX | c.1054T= (p.Tyr352=) | |
X | g.25012941A>C | CA412611861 | ARX | c.1054T>G (p.Tyr352Asp) | |
X | g.25012941A>G | CA412611862 | ARX | c.1054T>C (p.Tyr352His) | ClinVar dbSNP |
X | g.25012941A>T | CA412611863 | ARX | c.1054T>A (p.Tyr352Asn) | |
X | g.25012942G>A | CA515946934 | ARX | c.1053C>T (p.His351=) | gnomAD v4 |
X | g.25012942G>C | CA412611864 | ARX | c.1053C>G (p.His351Gln) | |
X | g.25012942G>T | CA412611865 | ARX | c.1053C>A (p.His351Gln) | |
X | g.25012943T>A | CA412611866 | ARX | c.1052A>T (p.His351Leu) | |
X | g.25012943T>C | CA412611867 | ARX | c.1052A>G (p.His351Arg) | |
X | g.25012943T>G | CA412611868 | ARX | c.1052A>C (p.His351Pro) | |
X | g.25012944G>A | CA412611869 | ARX | c.1051C>T (p.His351Tyr) | gnomAD v4 |
X | g.25012944G>C | CA412611870 | ARX | c.1051C>G (p.His351Asp) | |
X | g.25012944G>T | CA412611871 | ARX | c.1051C>A (p.His351Asn) | |
X | g.25012945C>A | CA515947077 | ARX | c.1050G>T (p.Thr350=) | gnomAD v4 |
X | g.25012945C= | CA2420209064 | ARX | c.1050G= (p.Thr350=) | |
X | g.25012945C>G | CA515947078 | ARX | c.1050G>C (p.Thr350=) | gnomAD v4 |
X | g.25012945C>T | CA515947079 | ARX | c.1050G>A (p.Thr350=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25012946G>A | CA412611873 | ARX | c.1049C>T (p.Thr350Met) | gnomAD v4 |
X | g.25012946G>C | CA412611874 | ARX | c.1049C>G (p.Thr350Arg) | |
X | g.25012946G>T | CA412611872 | ARX | c.1049C>A (p.Thr350Lys) | |
X | g.25012947T>A | CA412611877 | ARX | c.1048A>T (p.Thr350Ser) | |
X | g.25012947T>C | CA412611875 | ARX | c.1048A>G (p.Thr350Ala) | |
X | g.25012947T>G | CA412611876 | ARX | c.1048A>C (p.Thr350Pro) | |
X | g.25012948C>A | CA412611878 | ARX | c.1047G>T (p.Lys349Asn) | |
X | g.25012948C>G | CA412611879 | ARX | c.1047G>C (p.Lys349Asn) | |
X | g.25012948C>T | CA515947080 | ARX | c.1047G>A (p.Lys349=) | |
X | g.25012949T>A | CA412611880 | ARX | c.1046A>T (p.Lys349Met) | |
X | g.25012949T>C | CA412611881 | ARX | c.1046A>G (p.Lys349Arg) | ClinVar |
X | g.25012949T>G | CA412611882 | ARX | c.1046A>C (p.Lys349Thr) | |
X | g.25012950T>A | CA412611883 | ARX | c.1045A>T (p.Lys349Ter) | |
X | g.25012950T>C | CA412611884 | ARX | c.1045A>G (p.Lys349Glu) | |
X | g.25012950T>G | CA412611885 | ARX | c.1045A>C (p.Lys349Gln) | |
X | g.25012951C>A | CA412611886 | ARX | c.1044G>T (p.Gln348His) | |
X | g.25012951C= | CA2420209065 | ARX | c.1044G= (p.Gln348=) | |
X | g.25012951C>G | CA412611887 | ARX | c.1044G>C (p.Gln348His) | |
X | g.25012951C>T | CA515947081 | ARX | c.1044G>A (p.Gln348=) | dbSNP |
X | g.25012952T>A | CA412611890 | ARX | c.1043A>T (p.Gln348Leu) | |
X | g.25012952T>C | CA412611888 | ARX | c.1043A>G (p.Gln348Arg) | |
X | g.25012952T>G | CA412611889 | ARX | c.1043A>C (p.Gln348Pro) | |
X | g.25012953G>A | CA412611891 | ARX | c.1042C>T (p.Gln348Ter) | |
X | g.25012953G>C | CA412611892 | ARX | c.1042C>G (p.Gln348Glu) | |
X | g.25012953G>T | CA412611893 | ARX | c.1042C>A (p.Gln348Lys) | |
X | g.25012954G>A | CA515947082 | ARX | c.1041C>T (p.Phe347=) | |
X | g.25012954G>C | CA16616659 | ARX | c.1041C>G (p.Phe347Leu) | ClinVar dbSNP |
X | g.25012954G= | CA2420209066 | ARX | c.1041C= (p.Phe347=) | |
X | g.25012954G>T | CA412611894 | ARX | c.1041C>A (p.Phe347Leu) | gnomAD v4 |
X | g.25012955A>C | CA412611895 | ARX | c.1040T>G (p.Phe347Cys) | |
X | g.25012955A>G | CA412611896 | ARX | c.1040T>C (p.Phe347Ser) | |
X | g.25012955A>T | CA412611897 | ARX | c.1040T>A (p.Phe347Tyr) | gnomAD v4 |
X | g.25012956A= | CA2420209067 | ARX | c.1039T= (p.Phe347=) | |
X | g.25012956A>C | CA412611898 | ARX | c.1039T>G (p.Phe347Val) | ClinVar dbSNP |
X | g.25012956A>G | CA412611899 | ARX | c.1039T>C (p.Phe347Leu) | ClinVar dbSNP |
X | g.25012956A>T | CA412611900 | ARX | c.1039T>A (p.Phe347Ile) | |
X | g.25012957G>A | CA515947084 | ARX | c.1038C>T (p.Ala346=) | |
X | g.25012957G>C | CA515947083 | ARX | c.1038C>G (p.Ala346=) | |
X | g.25012957G= | CA2420209068 | ARX | c.1038C= (p.Ala346=) | |
X | g.25012957G>T | CA10373858 | ARX | c.1038C>A (p.Ala346=) | dbSNP ExAC gnomAD v2 |
X | g.25012958G>A | CA412611902 | ARX | c.1037C>T (p.Ala346Val) | gnomAD v4 |
X | g.25012958G>C | CA412611903 | ARX | c.1037C>G (p.Ala346Gly) | |
X | g.25012958G>T | CA412611901 | ARX | c.1037C>A (p.Ala346Asp) | |
X | g.25012959C>A | CA412611904 | ARX | c.1036G>T (p.Ala346Ser) | |
X | g.25012959C>G | CA412611905 | ARX | c.1036G>C (p.Ala346Pro) | |
X | g.25012959C>T | CA412611906 | ARX | c.1036G>A (p.Ala346Thr) | gnomAD v4 |
X | g.25012960C>A | CA515947085 | ARX | c.1035G>T (p.Arg345=) | |
X | g.25012960C>G | CA515947087 | ARX | c.1035G>C (p.Arg345=) | |
X | g.25012960C>T | CA515947086 | ARX | c.1035G>A (p.Arg345=) | gnomAD v4 |
X | g.25012961C>A | CA412611907 | ARX | c.1034G>T (p.Arg345Leu) | gnomAD v4 |
X | g.25012961C>G | CA412611908 | ARX | c.1034G>C (p.Arg345Pro) | |
X | g.25012961C>T | CA412611909 | ARX | c.1034G>A (p.Arg345Gln) | gnomAD v4 |
X | g.25012962G>A | CA412611910 | ARX | c.1033C>T (p.Arg345Trp) | gnomAD v4 |
X | g.25012962G>C | CA412611911 | ARX | c.1033C>G (p.Arg345Gly) | |
X | g.25012962G= | CA2420209069 | ARX | c.1033C= (p.Arg345=) | |
X | g.25012962G>T | CA515947088 | ARX | c.1033C>A (p.Arg345=) | ClinVar dbSNP gnomAD v4 |
X | g.25012963C>A | CA412611912 | ARX | c.1032G>T (p.Glu344Asp) | |
X | g.25012963C>G | CA412611913 | ARX | c.1032G>C (p.Glu344Asp) | |
X | g.25012963C>T | CA515947089 | ARX | c.1032G>A (p.Glu344=) | |
X | g.25012964T>A | CA412611914 | ARX | c.1031A>T (p.Glu344Val) | |
X | g.25012964T>C | CA412611915 | ARX | c.1031A>G (p.Glu344Gly) | |
X | g.25012964T>G | CA412611916 | ARX | c.1031A>C (p.Glu344Ala) | |
X | g.25012965C>A | CA412611918 | ARX | c.1030G>T (p.Glu344Ter) | |
X | g.25012965C>G | CA412611919 | ARX | c.1030G>C (p.Glu344Gln) | |
X | g.25012965C>T | CA412611917 | ARX | c.1030G>A (p.Glu344Lys) | |
X | g.25012966C>A | CA515947090 | ARX | c.1029G>T (p.Leu343=) | gnomAD v4 |
X | g.25012966C>G | CA515947091 | ARX | c.1029G>C (p.Leu343=) | |
X | g.25012966C>T | CA515947092 | ARX | c.1029G>A (p.Leu343=) | |
X | g.25012967A= | CA2420209070 | ARX | c.1028T= (p.Leu343=) | |
X | g.25012967A>C | CA412611920 | ARX | c.1028T>G (p.Leu343Arg) | |
X | g.25012967A>G | CA412611921 | ARX | c.1028T>C (p.Leu343Pro) | |
X | g.25012967A>T | CA213171 | ARX | c.1028T>A (p.Leu343Gln) | ClinVar dbSNP |
X | g.25012968G>A | CA10373859 | ARX | c.1027C>T (p.Leu343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25012968G>C | CA412611922 | ARX | c.1027C>G (p.Leu343Val) | |
X | g.25012968G= | CA2420209071 | ARX | c.1027C= (p.Leu343=) | |
X | g.25012968G>T | CA412611923 | ARX | c.1027C>A (p.Leu343Met) | |
X | g.25012969T>A | CA412611925 | ARX | c.1026A>T (p.Glu342Asp) | |
X | g.25012969T>C | CA515947093 | ARX | c.1026A>G (p.Glu342=) | ClinVar gnomAD v4 |
X | g.25012969T>G | CA412611924 | ARX | c.1026A>C (p.Glu342Asp) | |
X | g.25012970T>A | CA412611926 | ARX | c.1025A>T (p.Glu342Val) | |
X | g.25012970T>C | CA224116 | ARX | c.1025A>G (p.Glu342Gly) | dbSNP |
X | g.25012970T>G | CA412611927 | ARX | c.1025A>C (p.Glu342Ala) | |
X | g.25012970T= | CA2420209072 | ARX | c.1025A= (p.Glu342=) | |
X | g.25012971C>A | CA412611928 | ARX | c.1024G>T (p.Glu342Ter) | dbSNP gnomAD v4 |
X | g.25012971C>G | CA412611929 | ARX | c.1024G>C (p.Glu342Gln) | |
X | g.25012971C>T | CA412611930 | ARX | c.1024G>A (p.Glu342Lys) | COSMIC |
X | g.25012972C>A | CA412611932 | ARX | c.1023G>T (p.Glu341Asp) | |
X | g.25012972C= | CA2420209073 | ARX | c.1023G= (p.Glu341=) | |
X | g.25012972C>G | CA412611931 | ARX | c.1023G>C (p.Glu341Asp) | |
X | g.25012972C>T | CA10373860 | ARX | c.1023G>A (p.Glu341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25012973del | CA2519842814 | ARX | c.1022del (p.Glu341GlyfsTer23) | |
X | g.25012973T>A | CA412611933 | ARX | c.1022A>T (p.Glu341Val) | |
X | g.25012973T>C | CA412611935 | ARX | c.1022A>G (p.Glu341Gly) | |
X | g.25012973T>G | CA412611934 | ARX | c.1022A>C (p.Glu341Ala) | |
X | g.25012974C>A | CA412611936 | ARX | c.1021G>T (p.Glu341Ter) | |
X | g.25012974C>G | CA412611938 | ARX | c.1021G>C (p.Glu341Gln) | |
X | g.25012974C>T | CA412611937 | ARX | c.1021G>A (p.Glu341Lys) | |
X | g.25012975C>A | CA515947094 | ARX | c.1020G>T (p.Leu340=) | gnomAD v4 |
X | g.25012975C>G | CA515947096 | ARX | c.1020G>C (p.Leu340=) | |
X | g.25012975C>T | CA515947095 | ARX | c.1020G>A (p.Leu340=) | gnomAD v4 |
X | g.25012976A>C | CA412611939 | ARX | c.1019T>G (p.Leu340Arg) | |
X | g.25012976A>G | CA412611941 | ARX | c.1019T>C (p.Leu340Pro) | |
X | g.25012976A>T | CA412611940 | ARX | c.1019T>A (p.Leu340Gln) | |
X | g.25012977G>A | CA515947097 | ARX | c.1018C>T (p.Leu340=) | |
X | g.25012977G>C | CA412611942 | ARX | c.1018C>G (p.Leu340Val) | |
X | g.25012977G>T | CA412611943 | ARX | c.1018C>A (p.Leu340Met) | gnomAD v4 |
X | g.25012978C>A | CA412611944 | ARX | c.1017G>T (p.Gln339His) | |
X | g.25012978C= | CA2420209074 | ARX | c.1017G= (p.Gln339=) | |
X | g.25012978C>G | CA412611945 | ARX | c.1017G>C (p.Gln339His) | ClinVar dbSNP |
X | g.25012978C>T | CA515947098 | ARX | c.1017G>A (p.Gln339=) | ClinVar |
X | g.25012979T>A | CA412611946 | ARX | c.1016A>T (p.Gln339Leu) | |
X | g.25012979T>C | CA412611947 | ARX | c.1016A>G (p.Gln339Arg) | gnomAD v4 |
X | g.25012979T>G | CA412611948 | ARX | c.1016A>C (p.Gln339Pro) | |
X | g.25012980G>A | CA412611951 | ARX | c.1015C>T (p.Gln339Ter) | |
X | g.25012980G>C | CA412611949 | ARX | c.1015C>G (p.Gln339Glu) | |
X | g.25012980G>T | CA412611950 | ARX | c.1015C>A (p.Gln339Lys) | |
X | g.25012981G>A | CA515947099 | ARX | c.1014C>T (p.Tyr338=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25012981G>C | CA412611952 | ARX | c.1014C>G (p.Tyr338Ter) | |
X | g.25012981G= | CA2420209075 | ARX | c.1014C= (p.Tyr338=) | |
X | g.25012981G>T | CA412611953 | ARX | c.1014C>A (p.Tyr338Ter) | |
X | g.25012982T>A | CA412611954 | ARX | c.1013A>T (p.Tyr338Phe) | |
X | g.25012982T>C | CA412611955 | ARX | c.1013A>G (p.Tyr338Cys) | |
X | g.25012982T>G | CA412611956 | ARX | c.1013A>C (p.Tyr338Ser) | |
X | g.25012982delinsGG | CA2695232858 | ARX | c.1013delinsCC (p.Tyr338SerfsTer?) | |
X | g.25012983_25012986dup | CA2695232857 | ARX | c.1010_1013dup (p.Tyr338Ter) | |
X | g.25012983A>C | CA412611957 | ARX | c.1012T>G (p.Tyr338Asp) | |
X | g.25012983A>G | CA412611959 | ARX | c.1012T>C (p.Tyr338His) | |
X | g.25012983A>T | CA412611958 | ARX | c.1012T>A (p.Tyr338Asn) | |
X | g.25012984G>A | CA515947100 | ARX | c.1011C>T (p.Ser337=) | |
X | g.25012984G>C | CA412611960 | ARX | c.1011C>G (p.Ser337Arg) | |
X | g.25012984G>T | CA412611961 | ARX | c.1011C>A (p.Ser337Arg) | |
X | g.25012985C>A | CA412611962 | ARX | c.1010G>T (p.Ser337Ile) | |
X | g.25012985C>G | CA412611963 | ARX | c.1010G>C (p.Ser337Thr) | |
X | g.25012985C>T | CA412611964 | ARX | c.1010G>A (p.Ser337Asn) | gnomAD v4 |
X | g.25012986T>A | CA412611965 | ARX | c.1009A>T (p.Ser337Cys) | |
X | g.25012986T>C | CA412611966 | ARX | c.1009A>G (p.Ser337Gly) | gnomAD v4 |
X | g.25012986T>G | CA412611967 | ARX | c.1009A>C (p.Ser337Arg) | |
X | g.25012991_25012999del | CA2695232859 | ARX | c.1001_1009del (p.Thr334_Thr336del) | |
X | g.25012987G>A | CA515947101 | ARX | c.1008C>T (p.Thr336=) | |
X | g.25012987G>C | CA515947102 | ARX | c.1008C>G (p.Thr336=) | |
X | g.25012987G>T | CA515947103 | ARX | c.1008C>A (p.Thr336=) | ClinVar dbSNP |
X | g.25012987_25012993delinsGGTGAAC | CA2420209076 | ARX | c.1002_1008delinsGTTCACC (p.Thr334=) | |
X | g.25012988G>A | CA412611968 | ARX | c.1007C>T (p.Thr336Ile) | |
X | g.25012988G>C | CA412611969 | ARX | c.1007C>G (p.Thr336Ser) | |
X | g.25012988G>T | CA412611970 | ARX | c.1007C>A (p.Thr336Asn) | |
X | g.25012988_25012993delinsTGGTACA | CA358357 | ARX | c.1002_1007delinsTGTACCA (p.Phe335ValfsTer?) | ClinVar dbSNP |
X | g.25012989T>A | CA412611973 | ARX | c.1006A>T (p.Thr336Ser) | |
X | g.25012989T>C | CA412611971 | ARX | c.1006A>G (p.Thr336Ala) | |
X | g.25012989T>G | CA412611972 | ARX | c.1006A>C (p.Thr336Pro) | |
X | g.25012990G>A | CA515947104 | ARX | c.1005C>T (p.Phe335=) | ClinVar dbSNP gnomAD v4 |
X | g.25012990G>C | CA412611974 | ARX | c.1005C>G (p.Phe335Leu) | |
X | g.25012990G= | CA2420209077 | ARX | c.1005C= (p.Phe335=) | |
X | g.25012990G>T | CA412611975 | ARX | c.1005C>A (p.Phe335Leu) | |
X | g.25012991A>C | CA412611976 | ARX | c.1004T>G (p.Phe335Cys) | |
X | g.25012991A>G | CA412611977 | ARX | c.1004T>C (p.Phe335Ser) | |
X | g.25012991A>T | CA412611978 | ARX | c.1004T>A (p.Phe335Tyr) | |
X | g.25012992A>C | CA412611981 | ARX | c.1003T>G (p.Phe335Val) | |
X | g.25012992A>G | CA412611980 | ARX | c.1003T>C (p.Phe335Leu) | gnomAD v4 |
X | g.25012992A>T | CA412611979 | ARX | c.1003T>A (p.Phe335Ile) | |
X | g.25012993C>A | CA515947105 | ARX | c.1002G>T (p.Thr334=) | |
X | g.25012993C= | CA2420209078 | ARX | c.1002G= (p.Thr334=) | |
X | g.25012993C>G | CA515947106 | ARX | c.1002G>C (p.Thr334=) | |
X | g.25012993C>T | CA515947107 | ARX | c.1002G>A (p.Thr334=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25012994G>A | CA412611982 | ARX | c.1001C>T (p.Thr334Met) | |
X | g.25012994G>C | CA412611983 | ARX | c.1001C>G (p.Thr334Arg) | |
X | g.25012994G>T | CA412611984 | ARX | c.1001C>A (p.Thr334Lys) | |
X | g.25012995T>A | CA412611985 | ARX | c.1000A>T (p.Thr334Ser) | |
X | g.25012995T>C | CA412611986 | ARX | c.1000A>G (p.Thr334Ala) | |
X | g.25012995T>G | CA412611987 | ARX | c.1000A>C (p.Thr334Pro) | |
X | g.25012996G>A | CA515947108 | ARX | c.999C>T (p.Thr333=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25012996G>C | CA515947110 | ARX | c.999C>G (p.Thr333=) | |
X | g.25012996G= | CA2420209079 | ARX | c.999C= (p.Thr333=) | |
X | g.25012996G>T | CA515947109 | ARX | c.999C>A (p.Thr333=) | |
X | g.25012997G>A | CA412611988 | ARX | c.998C>T (p.Thr333Ile) | |
X | g.25012997G>C | CA171168 | ARX | c.998C>G (p.Thr333Ser) | ClinVar dbSNP |
X | g.25012997G= | CA2420209080 | ARX | c.998C= (p.Thr333=) | |
X | g.25012997G>T | CA121411 | ARX | c.998C>A (p.Thr333Asn) | ClinVar dbSNP gnomAD v4 |
X | g.25012998T>A | CA412611989 | ARX | c.997A>T (p.Thr333Ser) | |
X | g.25012998T>C | CA412611990 | ARX | c.997A>G (p.Thr333Ala) | gnomAD v4 |
X | g.25012998T>G | CA412611991 | ARX | c.997A>C (p.Thr333Pro) | |
X | g.25012999G>A | CA515947111 | ARX | c.996C>T (p.Arg332=) | |
X | g.25012999G>C | CA515947112 | ARX | c.996C>G (p.Arg332=) | |
X | g.25012999G>T | CA515947113 | ARX | c.996C>A (p.Arg332=) | gnomAD v4 |
X | g.25013000C>A | CA213238 | ARX | c.995G>T (p.Arg332Leu) | ClinVar dbSNP |
X | g.25013000C= | CA2420209081 | ARX | c.995G= (p.Arg332=) | |
X | g.25013000C>G | CA412611992 | ARX | c.995G>C (p.Arg332Pro) | |
X | g.25013000C>T | CA213168 | ARX | c.995G>A (p.Arg332His) | ClinVar dbSNP gnomAD v4 |
X | g.25013001G>A | CA412611993 | ARX | c.994C>T (p.Arg332Cys) | ClinVar dbSNP |
X | g.25013001G>C | CA412611994 | ARX | c.994C>G (p.Arg332Gly) | ClinVar dbSNP |
X | g.25013001G>T | CA412611995 | ARX | c.994C>A (p.Arg332Ser) | gnomAD v4 |
X | g.25013002G>A | CA515947114 | ARX | c.993C>T (p.Tyr331=) | ClinVar gnomAD v4 |
X | g.25013002G>C | CA412611996 | ARX | c.993C>G (p.Tyr331Ter) | |
X | g.25013002G>T | CA412611997 | ARX | c.993C>A (p.Tyr331Ter) | |
X | g.25013002_25013003insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTGTTCTTCA | CA2820100811 | ARX | c.992_993insTGAAGAACACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG (p.Tyr332GlufsTer10) | |
X | g.25013002_25013003insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTATTCTTCATCCGCGATCCATTGCAATTCCCAGATTTGAA | CA2506430009 | ARX | c.992_993insTTCAAATCTGGGAATTGCAATGGATCGCGGATGAAGAATACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG (p.Arg332SerfsTer11) | |
X | g.25013003T>A | CA412611998 | ARX | c.992A>T (p.Tyr331Phe) | |
X | g.25013003T>C | CA412612000 | ARX | c.992A>G (p.Tyr331Cys) | dbSNP |
X | g.25013003T>G | CA412611999 | ARX | c.992A>C (p.Tyr331Ser) | |
X | g.25013003T= | CA2420209082 | ARX | c.992A= (p.Tyr331=) | |
X | g.25013004A>C | CA412612001 | ARX | c.991T>G (p.Tyr331Asp) | |
X | g.25013004A>G | CA412612003 | ARX | c.991T>C (p.Tyr331His) | |
X | g.25013004A>T | CA412612002 | ARX | c.991T>A (p.Tyr331Asn) | |
X | g.25013005G>A | CA515947115 | ARX | c.990C>T (p.Arg330=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25013005G>C | CA515947116 | ARX | c.990C>G (p.Arg330=) | |
X | g.25013005G= | CA2420209083 | ARX | c.990C= (p.Arg330=) | |
X | g.25013005G>T | CA515947117 | ARX | c.990C>A (p.Arg330=) | |
X | g.25013006C>A | CA412612004 | ARX | c.989G>T (p.Arg330Leu) | |
X | g.25013006C= | CA2420209084 | ARX | c.989G= (p.Arg330=) | |
X | g.25013006C>G | CA412612005 | ARX | c.989G>C (p.Arg330Pro) | |
X | g.25013006C>T | CA10588763 | ARX | c.989G>A (p.Arg330His) | ClinVar dbSNP |
X | g.25013007G>A | CA412612006 | ARX | c.988C>T (p.Arg330Cys) | ClinVar |
X | g.25013007G>C | CA412612007 | ARX | c.988C>G (p.Arg330Gly) | |
X | g.25013007G>T | CA412612008 | ARX | c.988C>A (p.Arg330Ser) | gnomAD v4 |
X | g.25013008C>A | CA412612009 | ARX | c.987G>T (p.Arg329Ser) | |
X | g.25013008C>G | CA412612010 | ARX | c.987G>C (p.Arg329Ser) | |
X | g.25013008C>T | CA515947118 | ARX | c.987G>A (p.Arg329=) | |
X | g.25013009C>A | CA412612011 | ARX | c.986G>T (p.Arg329Met) | |
X | g.25013009C>G | CA412612012 | ARX | c.986G>C (p.Arg329Thr) | |
X | g.25013009C>T | CA412612013 | ARX | c.986G>A (p.Arg329Lys) | COSMIC |
X | g.25013010T>A | CA412612015 | ARX | c.985A>T (p.Arg329Trp) | |
X | g.25013010T>C | CA412612014 | ARX | c.985A>G (p.Arg329Gly) | |
X | g.25013010T>G | CA515947119 | ARX | c.985A>C (p.Arg329=) | |
X | g.25013011C>A | CA412612016 | ARX | c.984G>T (p.Gln328His) | gnomAD v4 |
X | g.25013011C>G | CA412612017 | ARX | c.984G>C (p.Gln328His) | |
X | g.25013011C>T | CA515947120 | ARX | c.984G>A (p.Gln328=) | |
X | g.25013011_25013015delinsCTGTT | CA2420209085 | ARX | c.980_984delinsAACAG (p.Lys327=) | |
X | g.25013012T>A | CA412612018 | ARX | c.983A>T (p.Gln328Leu) | |
X | g.25013012T>C | CA224142 | ARX | c.983A>G (p.Gln328Arg) | dbSNP |
X | g.25013012T>G | CA412612019 | ARX | c.983A>C (p.Gln328Pro) | |
X | g.25013012T= | CA2420209086 | ARX | c.983A= (p.Gln328=) | |
X | g.25013014_25013017del | CA224141 | ARX | c.980_983del (p.Lys327ArgfsTer?) | ClinVar dbSNP |
X | g.25013013G>A | CA412612020 | ARX | c.982C>T (p.Gln328Ter) | |
X | g.25013013G>C | CA412612021 | ARX | c.982C>G (p.Gln328Glu) | |
X | g.25013013G>T | CA412612022 | ARX | c.982C>A (p.Gln328Lys) | |
X | g.25013013delinsAAA | CA2695232861 | ARX | c.982delinsTTT (p.Gln328PhefsTer?) | |
X | g.25013014T>A | CA412612023 | ARX | c.981A>T (p.Lys327Asn) | |
X | g.25013014T>C | CA515947121 | ARX | c.981A>G (p.Lys327=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25013014T>G | CA412612024 | ARX | c.981A>C (p.Lys327Asn) | |
X | g.25013014T= | CA2420209087 | ARX | c.981A= (p.Lys327=) | |
X | g.25013015T>A | CA412612026 | ARX | c.980A>T (p.Lys327Ile) | |
X | g.25013015T>C | CA412612027 | ARX | c.980A>G (p.Lys327Arg) | |
X | g.25013015T>G | CA412612025 | ARX | c.980A>C (p.Lys327Thr) | |
X | g.25013016T>A | CA412612028 | ARX | c.979A>T (p.Lys327Ter) | |
X | g.25013016T>C | CA412612029 | ARX | c.979A>G (p.Lys327Glu) | |
X | g.25013016T>G | CA412612030 | ARX | c.979A>C (p.Lys327Gln) | |
X | g.25013017G>A | CA515947123 | ARX | c.978C>T (p.Arg326=) | |
X | g.25013017G>C | CA515947124 | ARX | c.978C>G (p.Arg326=) | |
X | g.25013017G>T | CA515947125 | ARX | c.978C>A (p.Arg326=) | gnomAD v4 |
X | g.25013018C>A | CA412612031 | ARX | c.977G>T (p.Arg326Leu) | |
X | g.25013018C>G | CA412612032 | ARX | c.977G>C (p.Arg326Pro) | |
X | g.25013018C>T | CA412612033 | ARX | c.977G>A (p.Arg326His) | gnomAD v4 |
X | g.25013019G>A | CA412612034 | ARX | c.976C>T (p.Arg326Cys) | dbSNP gnomAD v4 |
X | g.25013019G>C | CA412612035 | ARX | c.976C>G (p.Arg326Gly) | |
X | g.25013019G>T | CA412612036 | ARX | c.976C>A (p.Arg326Ser) | |
X | g.25013020T>A | CA412612037 | ARX | c.975A>T (p.Lys325Asn) | |
X | g.25013020T>C | CA515947130 | ARX | c.975A>G (p.Lys325=) | |
X | g.25013020T>G | CA412612038 | ARX | c.975A>C (p.Lys325Asn) | |
X | g.25013021T>A | CA412612040 | ARX | c.974A>T (p.Lys325Ile) | |
X | g.25013021T>C | CA412612041 | ARX | c.974A>G (p.Lys325Arg) | |
X | g.25013021T>G | CA412612039 | ARX | c.974A>C (p.Lys325Thr) | |
X | g.25013022T>A | CA412612042 | ARX | c.973A>T (p.Lys325Ter) | |
X | g.25013022T>C | CA412612043 | ARX | c.973A>G (p.Lys325Glu) | |
X | g.25013022T>G | CA412612044 | ARX | c.973A>C (p.Lys325Gln) | gnomAD v4 |
X | g.25013023C>A | CA515947134 | ARX | c.972G>T (p.Leu324=) | |
X | g.25013023C>G | CA515947135 | ARX | c.972G>C (p.Leu324=) | |
X | g.25013023C>T | CA515947136 | ARX | c.972G>A (p.Leu324=) | |
X | g.25013024A>C | CA412612045 | ARX | c.971T>G (p.Leu324Arg) | |
X | g.25013024A>G | CA412612046 | ARX | c.971T>C (p.Leu324Pro) | |
X | g.25013024A>T | CA412612047 | ARX | c.971T>A (p.Leu324Gln) | |
X | g.25013025G>A | CA515947140 | ARX | c.970C>T (p.Leu324=) | gnomAD v4 |
X | g.25013025G>C | CA412612048 | ARX | c.970C>G (p.Leu324Val) | |
X | g.25013025G>T | CA412612049 | ARX | c.970C>A (p.Leu324Met) | |
X | g.25013026C>A | CA515947143 | ARX | c.969G>T (p.Leu323=) | |
X | g.25013026C>G | CA515947145 | ARX | c.969G>C (p.Leu323=) | |
X | g.25013026C>T | CA515947146 | ARX | c.969G>A (p.Leu323=) | gnomAD v4 |
X | g.25013027A>C | CA412612050 | ARX | c.968T>G (p.Leu323Arg) | |
X | g.25013027A>G | CA412612051 | ARX | c.968T>C (p.Leu323Pro) | |
X | g.25013027A>T | CA412612052 | ARX | c.968T>A (p.Leu323Gln) | |
X | g.25013028G>A | CA515947148 | ARX | c.967C>T (p.Leu323=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25013028G>C | CA412612053 | ARX | c.967C>G (p.Leu323Val) | |
X | g.25013028G= | CA2420209088 | ARX | c.967C= (p.Leu323=) | |
X | g.25013028G>T | CA412612054 | ARX | c.967C>A (p.Leu323Met) | gnomAD v4 |
X | g.25013029C>A | CA515947154 | ARX | c.966G>T (p.Gly322=) | dbSNP |
X | g.25013029C>G | CA515947155 | ARX | c.966G>C (p.Gly322=) | |
X | g.25013029C>T | CA515947156 | ARX | c.966G>A (p.Gly322=) |