X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
X | g.25012909C>A | CA2693353347 | ARX | c.1073+13G>T (n.1073+13G>T)
| gnomAD v4 |
X | g.25012909C>T | CA2693353346 | ARX | c.1073+13G>A (n.1073+13G>A)
| ClinVar gnomAD v4 |
X | g.25012910C>A | CA2820100800 | ARX | c.1073+12G>T (n.1073+12G>T)
| |
X | g.25012911T>C | CA2693353348 | ARX | c.1073+11A>G (n.1073+11A>G)
| gnomAD v4 |
X | g.25012913C>A | CA2693353349 | ARX | c.1073+9G>T (n.1073+9G>T)
| gnomAD v4 |
X | g.25012913C= | CA2420209049 | ARX | c.1073+9G= (n.1073+9G=)
| |
X | g.25012913C>G | CA10373855 | ARX | c.1073+9G>C (n.1073+9G>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25012913C>T | CA2579576413 | ARX | c.1073+9G>A (n.1073+9G>A)
| ClinVar gnomAD v4 |
X | g.25012914G>A | CA2693353350 | ARX | c.1073+8C>T (n.1073+8C>T)
| gnomAD v4 |
X | g.25012914G>C | CA2693353351 | ARX | c.1073+8C>G (n.1073+8C>G)
| gnomAD v4 |
X | g.25012914G>T | CA2579576414 | ARX | c.1073+8C>A (n.1073+8C>A)
| ClinVar |
X | g.25012915C= | CA2420209051 | ARX | c.1073+7G= (n.1073+7G=)
| |
X | g.25012915C>G | CA2420209050 | ARX | c.1073+7G>C (n.1073+7G>C)
| dbSNP gnomAD v4 |
X | g.25012915C>T | CA874146488 | ARX | c.1073+7G>A (n.1073+7G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25012916G>A | CA641364627 | ARX | c.1073+6C>T (n.1073+6C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25012916G= | CA2420209052 | ARX | c.1073+6C= (n.1073+6C=)
| |
X | g.25012916G>T | CA645618122 | ARX | c.1073+6C>A (n.1073+6C>A)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
X | g.25012917C>A | CA2693353352 | ARX | c.1073+5G>T (n.1073+5G>T)
| gnomAD v4 |
X | g.25012917C= | CA2420209053 | ARX | c.1073+5G= (n.1073+5G=)
| |
X | g.25012917C>T | CA641364628 | ARX | c.1073+5G>A (n.1073+5G>A)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25012918A= | CA2420209054 | ARX | c.1073+4T= (n.1073+4T=)
| |
X | g.25012918A>C | CA641364629 | ARX | c.1073+4T>G (n.1073+4T>G)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25012918A>G | CA2573158497 | ARX | c.1073+4T>C (n.1073+4T>C)
| ClinVar dbSNP |
X | g.25012920A>C | CA412611815 | ARX | c.1073+2T>G (n.1073+2T>G)
| |
X | g.25012920A>G | CA412611814 | ARX | c.1073+2T>C (n.1073+2T>C)
| |
X | g.25012920A>T | CA412611816 | ARX | c.1073+2T>A (n.1073+2T>A)
| |
X | g.25012921C>A | CA412611817 | ARX | c.1073+1G>T (n.1073+1G>T)
| |
X | g.25012921C= | CA2420209055 | ARX | c.1073+1G= (n.1073+1G=)
| |
X | g.25012921C>G | CA412611819 | ARX | c.1073+1G>C (n.1073+1G>C)
| |
X | g.25012921C>T | CA412611818 | ARX | c.1073+1G>A (n.1073+1G>A)
| dbSNP gnomAD v2 |
X | g.25012922C>A | CA412611820 | ARX | c.1073G>T (p.Arg358Met)
| gnomAD v4 |
X | g.25012922C>G | CA412611821 | ARX | c.1073G>C (p.Arg358Thr)
| |
X | g.25012922C>T | CA412611822 | ARX | c.1073G>A (p.Arg358Lys)
| ClinVar dbSNP |
X | g.25012923T>A | CA412611823 | ARX | c.1072A>T (p.Arg358Trp)
| |
X | g.25012923T>C | CA412611824 | ARX | c.1072A>G (p.Arg358Gly)
| |
X | g.25012923T>G | CA515946923 | ARX | c.1072A>C (p.Arg358=)
| |
X | g.25012924G>A | CA515946924 | ARX | c.1071C>T (p.Thr357=)
| |
X | g.25012924G>C | CA10373856 | ARX | c.1071C>G (p.Thr357=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25012924G= | CA2420209056 | ARX | c.1071C= (p.Thr357=)
| |
X | g.25012924G>T | CA515946925 | ARX | c.1071C>A (p.Thr357=)
| |
X | g.25012925G>A | CA412611825 | ARX | c.1070C>T (p.Thr357Ile)
| |
X | g.25012925G>C | CA412611826 | ARX | c.1070C>G (p.Thr357Ser)
| |
X | g.25012925G= | CA2420209057 | ARX | c.1070C= (p.Thr357=)
| |
X | g.25012925G>T | CA10373857 | ARX | c.1070C>A (p.Thr357Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25012926T>A | CA412611827 | ARX | c.1069A>T (p.Thr357Ser)
| |
X | g.25012926T>C | CA412611828 | ARX | c.1069A>G (p.Thr357Ala)
| |
X | g.25012926T>G | CA412611829 | ARX | c.1069A>C (p.Thr357Pro)
| |
X | g.25012927G>A | CA515946926 | ARX | c.1068C>T (p.Phe356=)
| |
X | g.25012927G>C | CA412611831 | ARX | c.1068C>G (p.Phe356Leu)
| |
X | g.25012927G>T | CA412611830 | ARX | c.1068C>A (p.Phe356Leu)
| |
X | g.25012928A>C | CA412611832 | ARX | c.1067T>G (p.Phe356Cys)
| |
X | g.25012928A>G | CA412611833 | ARX | c.1067T>C (p.Phe356Ser)
| |
X | g.25012928A>T | CA412611834 | ARX | c.1067T>A (p.Phe356Tyr)
| |
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 |