Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
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=) | |
X | g.25013030C>A | CA412612057 | ARX | c.965G>T (p.Gly322Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25013030C= | CA2420209089 | ARX | c.965G= (p.Gly322=) | |
X | g.25013030C>G | CA412612056 | ARX | c.965G>C (p.Gly322Ala) | |
X | g.25013030C>T | CA412612055 | ARX | c.965G>A (p.Gly322Glu) | |
X | g.25013031C>A | CA412612058 | ARX | c.964G>T (p.Gly322Trp) | gnomAD v4 |
X | g.25013031C>G | CA412612060 | ARX | c.964G>C (p.Gly322Arg) | |
X | g.25013031C>T | CA412612059 | ARX | c.964G>A (p.Gly322Arg) | gnomAD v4 |
X | g.25013032C>A | CA412612061 | ARX | c.963G>T (p.Glu321Asp) | |
X | g.25013032C>G | CA412612062 | ARX | c.963G>C (p.Glu321Asp) | |
X | g.25013032C>T | CA515947159 | ARX | c.963G>A (p.Glu321=) | gnomAD v4 |
X | g.25013033T>A | CA412612063 | ARX | c.962A>T (p.Glu321Val) | |
X | g.25013033T>C | CA412612064 | ARX | c.962A>G (p.Glu321Gly) | |
X | g.25013033T>G | CA412612065 | ARX | c.962A>C (p.Glu321Ala) | |
X | g.25013034C>A | CA412612066 | ARX | c.961G>T (p.Glu321Ter) | |
X | g.25013034C= | CA2420209090 | ARX | c.961G= (p.Glu321=) | |
X | g.25013034C>G | CA412612067 | ARX | c.961G>C (p.Glu321Gln) | |
X | g.25013034C>T | CA412612068 | ARX | c.961G>A (p.Glu321Lys) | dbSNP |
X | g.25013035C>A | CA412612069 | ARX | c.960G>T (p.Glu320Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25013035C= | CA2420209091 | ARX | c.960G= (p.Glu320=) | |
X | g.25013035C>G | CA412612070 | ARX | c.960G>C (p.Glu320Asp) | |
X | g.25013035C>T | CA515947165 | ARX | c.960G>A (p.Glu320=) | |
X | g.25013036T>A | CA412612071 | ARX | c.959A>T (p.Glu320Val) | |
X | g.25013036T>C | CA412612072 | ARX | c.959A>G (p.Glu320Gly) | |
X | g.25013036T>G | CA412612073 | ARX | c.959A>C (p.Glu320Ala) | |
X | g.25013037C>A | CA412612076 | ARX | c.958G>T (p.Glu320Ter) | |
X | g.25013037C>G | CA412612075 | ARX | c.958G>C (p.Glu320Gln) | |
X | g.25013037C>T | CA412612074 | ARX | c.958G>A (p.Glu320Lys) | |
X | g.25013038C>A | CA515947167 | ARX | c.957G>T (p.Ser319=) | |
X | g.25013038C>G | CA515947169 | ARX | c.957G>C (p.Ser319=) | |
X | g.25013038C>T | CA515947168 | ARX | c.957G>A (p.Ser319=) | |
X | g.25013039G>A | CA412612077 | ARX | c.956C>T (p.Ser319Leu) | |
X | g.25013039G>C | CA412612078 | ARX | c.956C>G (p.Ser319Trp) | |
X | g.25013039G= | CA2420209092 | ARX | c.956C= (p.Ser319=) | |
X | g.25013039G>T | CA412612079 | ARX | c.956C>A (p.Ser319Ter) | ClinVar dbSNP gnomAD v4 |
X | g.25013040A>C | CA412612080 | ARX | c.955T>G (p.Ser319Ala) | |
X | g.25013040A>G | CA412612081 | ARX | c.955T>C (p.Ser319Pro) | |
X | g.25013040A>T | CA412612082 | ARX | c.955T>A (p.Ser319Thr) | |
X | g.25013041G>A | CA515947173 | ARX | c.954C>T (p.Asp318=) | |
X | g.25013041G>C | CA412612083 | ARX | c.954C>G (p.Asp318Glu) | |
X | g.25013041G>T | CA412612084 | ARX | c.954C>A (p.Asp318Glu) | |
X | g.25013042T>A | CA412612085 | ARX | c.953A>T (p.Asp318Val) | |
X | g.25013042T>C | CA412612086 | ARX | c.953A>G (p.Asp318Gly) | gnomAD v4 |
X | g.25013042T>G | CA412612087 | ARX | c.953A>C (p.Asp318Ala) | |
X | g.25013043C>A | CA412612090 | ARX | c.952G>T (p.Asp318Tyr) | |
X | g.25013043C>G | CA412612089 | ARX | c.952G>C (p.Asp318His) | |
X | g.25013043C>T | CA412612088 | ARX | c.952G>A (p.Asp318Asn) | |
X | g.25013044G>A | CA515947175 | ARX | c.951C>T (p.Ser317=) | ClinVar dbSNP gnomAD v4 |
X | g.25013044G>C | CA412612091 | ARX | c.951C>G (p.Ser317Arg) | |
X | g.25013044G= | CA2420209093 | ARX | c.951C= (p.Ser317=) | |
X | g.25013044G>T | CA412612092 | ARX | c.951C>A (p.Ser317Arg) | gnomAD v4 COSMIC |
X | g.25013045C>A | CA412612093 | ARX | c.950G>T (p.Ser317Ile) | gnomAD v4 |
X | g.25013045C= | CA2420209094 | ARX | c.950G= (p.Ser317=) | |
X | g.25013045C>G | CA412612094 | ARX | c.950G>C (p.Ser317Thr) | |
X | g.25013045C>T | CA16608408 | ARX | c.950G>A (p.Ser317Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013046T>A | CA412612095 | ARX | c.949A>T (p.Ser317Cys) | |
X | g.25013046T>C | CA412612096 | ARX | c.949A>G (p.Ser317Gly) | |
X | g.25013046T>G | CA412612097 | ARX | c.949A>C (p.Ser317Arg) | |
X | g.25013047G>A | CA515947178 | ARX | c.948C>T (p.Gly316=) | ClinVar gnomAD v4 |
X | g.25013047G>C | CA515947179 | ARX | c.948C>G (p.Gly316=) | |
X | g.25013047G>T | CA515947181 | ARX | c.948C>A (p.Gly316=) | gnomAD v4 |
X | g.25013048C>A | CA412612098 | ARX | c.947G>T (p.Gly316Val) | gnomAD v4 |
X | g.25013048C>G | CA412612099 | ARX | c.947G>C (p.Gly316Ala) | |
X | g.25013048C>T | CA412612100 | ARX | c.947G>A (p.Gly316Asp) | |
X | g.25013050del | CA2499226603 | ARX | c.947del (p.Gly316AlafsTer9) | ClinVar dbSNP |
X | g.25013049C>A | CA412612103 | ARX | c.946G>T (p.Gly316Cys) | ClinVar dbSNP gnomAD v4 |
X | g.25013049C= | CA2420209095 | ARX | c.946G= (p.Gly316=) | |
X | g.25013049C>G | CA412612102 | ARX | c.946G>C (p.Gly316Arg) | |
X | g.25013049C>T | CA412612101 | ARX | c.946G>A (p.Gly316Ser) | ClinVar dbSNP |
X | g.25013050C>A | CA515947185 | ARX | c.945G>T (p.Ala315=) | gnomAD v4 |
X | g.25013050C= | CA2420209096 | ARX | c.945G= (p.Ala315=) | |
X | g.25013050C>G | CA515947186 | ARX | c.945G>C (p.Ala315=) | |
X | g.25013050C>T | CA515947187 | ARX | c.945G>A (p.Ala315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013051G>A | CA412612104 | ARX | c.944C>T (p.Ala315Val) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.25013051G>C | CA412612105 | ARX | c.944C>G (p.Ala315Gly) | |
X | g.25013051G= | CA2420209097 | ARX | c.944C= (p.Ala315=) | |
X | g.25013051G>T | CA412612106 | ARX | c.944C>A (p.Ala315Glu) | gnomAD v4 |
X | g.25013052C>A | CA412612107 | ARX | c.943G>T (p.Ala315Ser) | |
X | g.25013052C= | CA2420209098 | ARX | c.943G= (p.Ala315=) | |
X | g.25013052C>G | CA412612108 | ARX | c.943G>C (p.Ala315Pro) | |
X | g.25013052C>T | CA412612109 | ARX | c.943G>A (p.Ala315Thr) | dbSNP gnomAD v2 |
X | g.25013053A>C | CA515947190 | ARX | c.942T>G (p.Ser314=) | |
X | g.25013053A>G | CA515947191 | ARX | c.942T>C (p.Ser314=) | gnomAD v4 |
X | g.25013053A>T | CA515947192 | ARX | c.942T>A (p.Ser314=) | |
X | g.25013054G>A | CA412612110 | ARX | c.941C>T (p.Ser314Phe) | |
X | g.25013054G>C | CA412612111 | ARX | c.941C>G (p.Ser314Cys) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25013054G= | CA2420209099 | ARX | c.941C= (p.Ser314=) | |
X | g.25013054G>T | CA412612112 | ARX | c.941C>A (p.Ser314Tyr) | gnomAD v4 |
X | g.25013055A>C | CA412612113 | ARX | c.940T>G (p.Ser314Ala) | |
X | g.25013055A>G | CA412612114 | ARX | c.940T>C (p.Ser314Pro) | gnomAD v4 |
X | g.25013055A>T | CA412612115 | ARX | c.940T>A (p.Ser314Thr) | |
X | g.25013056G>A | CA515947195 | ARX | c.939C>T (p.Leu313=) | dbSNP |
X | g.25013056G>C | CA515947197 | ARX | c.939C>G (p.Leu313=) | |
X | g.25013056G= | CA2420209100 | ARX | c.939C= (p.Leu313=) | |
X | g.25013056G>T | CA515947199 | ARX | c.939C>A (p.Leu313=) | gnomAD v4 |
X | g.25013057A>C | CA412612117 | ARX | c.938T>G (p.Leu313Arg) | |
X | g.25013057A>G | CA412612118 | ARX | c.938T>C (p.Leu313Pro) | |
X | g.25013057A>T | CA412612116 | ARX | c.938T>A (p.Leu313His) | |
X | g.25013058G>A | CA412612121 | ARX | c.937C>T (p.Leu313Phe) | |
X | g.25013058G>C | CA412612119 | ARX | c.937C>G (p.Leu313Val) | |
X | g.25013058G>T | CA412612120 | ARX | c.937C>A (p.Leu313Ile) | |
X | g.25013059G>A | CA515947203 | ARX | c.936C>T (p.Cys312=) | ClinVar gnomAD v4 |
X | g.25013059G>C | CA412612122 | ARX | c.936C>G (p.Cys312Trp) | |
X | g.25013059G>T | CA412612123 | ARX | c.936C>A (p.Cys312Ter) | |
X | g.25013060C>A | CA412612124 | ARX | c.935G>T (p.Cys312Phe) | gnomAD v4 |
X | g.25013060C>G | CA412612125 | ARX | c.935G>C (p.Cys312Ser) | |
X | g.25013060C>T | CA412612126 | ARX | c.935G>A (p.Cys312Tyr) | gnomAD v4 |