Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25004210_25005726del | CA2573158583 | ARX | c.1449-816_*460del | ClinVar |
X | g.25004734_25004841del | CA2558513964 | ARX | c.1521_1628del (p.Val508_Ala543del) | |
X | g.25004798_25004839delinsCCGGGTCGGCCAGGGCGCCCGATGCCACTGCGCCCTCCACGG | CA2420205933 | ARX | c.1520_1561delinsCCGTGGAGGGCGCAGTGGCATCGGGCGCCCTGGCCGACCCGG (p.Ala507=) | |
X | g.25004804_25004844del | CA891843837 | ARX | c.1520_1560del (p.Ala507GlyfsTer11) | ClinVar dbSNP |
X | g.25004808del | CA2580100515 | ARX | c.1552del (p.Ala518ProfsTer15) | ClinVar |
X | g.25004808C>A | CA515748081 | ARX | c.1551G>T (p.Leu517=) | gnomAD v4 |
X | g.25004808C= | CA2420205943 | ARX | c.1551G= (p.Leu517=) | |
X | g.25004808C>G | CA10373769 | ARX | c.1551G>C (p.Leu517=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25004808C>T | CA515748080 | ARX | c.1551G>A (p.Leu517=) | gnomAD v4 |
X | g.25004809del | CA2820109497 | ARX | c.1550del (p.Leu517ArgfsTer16) | |
X | g.25004809A>C | CA412610778 | ARX | c.1550T>G (p.Leu517Arg) | |
X | g.25004809A>G | CA412610779 | ARX | c.1550T>C (p.Leu517Pro) | |
X | g.25004809A>T | CA412610780 | ARX | c.1550T>A (p.Leu517Gln) | |
X | g.25004809_25004824delinsAGGGCGCCCGATGCCA | CA2420205944 | ARX | c.1535_1550delinsTGGCATCGGGCGCCCT (p.Val512=) | |
X | g.25004810G>A | CA515748082 | ARX | c.1549C>T (p.Leu517=) | gnomAD v4 |
X | g.25004810G>C | CA412610781 | ARX | c.1549C>G (p.Leu517Val) | |
X | g.25004810G>T | CA412610782 | ARX | c.1549C>A (p.Leu517Met) | gnomAD v4 |
X | g.25004810_25004824delinsCTGCGCC | CA645373294 | ARX | c.1535_1549delinsGGCGCAG (p.Val512GlyfsTer17) | ClinVar dbSNP |
X | g.25004811G>A | CA515748083 | ARX | c.1548C>T (p.Ala516=) | gnomAD v4 |
X | g.25004811G>C | CA515748085 | ARX | c.1548C>G (p.Ala516=) | |
X | g.25004811G>T | CA515748084 | ARX | c.1548C>A (p.Ala516=) | |
X | g.25004812G>A | CA412610783 | ARX | c.1547C>T (p.Ala516Val) | |
X | g.25004812G>C | CA412610784 | ARX | c.1547C>G (p.Ala516Gly) | |
X | g.25004812G>T | CA412610785 | ARX | c.1547C>A (p.Ala516Asp) | |
X | g.25004813C>A | CA10373770 | ARX | c.1546G>T (p.Ala516Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25004813C= | CA2420205945 | ARX | c.1546G= (p.Ala516=) | |
X | g.25004813C>G | CA412610786 | ARX | c.1546G>C (p.Ala516Pro) | ClinVar dbSNP |
X | g.25004813C>T | CA412610787 | ARX | c.1546G>A (p.Ala516Thr) | gnomAD v4 |
X | g.25004814G>A | CA515748086 | ARX | c.1545C>T (p.Gly515=) | |
X | g.25004814G>C | CA515748087 | ARX | c.1545C>G (p.Gly515=) | |
X | g.25004814G>T | CA515748088 | ARX | c.1545C>A (p.Gly515=) | gnomAD v4 |
X | g.25004814_25004815delinsGC | CA2420205946 | ARX | c.1544_1545delinsGC (p.Gly515=) | |
X | g.25004815C>A | CA412610789 | ARX | c.1544G>T (p.Gly515Val) | |
X | g.25004815C>G | CA412610790 | ARX | c.1544G>C (p.Gly515Ala) | |
X | g.25004815C>T | CA412610788 | ARX | c.1544G>A (p.Gly515Asp) | gnomAD v4 |
X | g.25004817del | CA171147 | ARX | c.1544del (p.Gly515AlafsTer18) | ClinVar dbSNP |
X | g.25004816C>A | CA412610791 | ARX | c.1543G>T (p.Gly515Cys) | gnomAD v4 |
X | g.25004816C= | CA2420205947 | ARX | c.1543G= (p.Gly515=) | |
X | g.25004816C>G | CA412610792 | ARX | c.1543G>C (p.Gly515Arg) | |
X | g.25004816C>T | CA412610793 | ARX | c.1543G>A (p.Gly515Ser) | dbSNP |
X | g.25004817C>A | CA515748089 | ARX | c.1542G>T (p.Ser514=) | gnomAD v4 |
X | g.25004817C= | CA2420205948 | ARX | c.1542G= (p.Ser514=) | |
X | g.25004817C>G | CA515748090 | ARX | c.1542G>C (p.Ser514=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25004817C>T | CA515748091 | ARX | c.1542G>A (p.Ser514=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004818G>A | CA412610794 | ARX | c.1541C>T (p.Ser514Leu) | gnomAD v4 |
X | g.25004818G>C | CA412610795 | ARX | c.1541C>G (p.Ser514Trp) | ClinVar dbSNP |
X | g.25004818G= | CA2420205949 | ARX | c.1541C= (p.Ser514=) | |
X | g.25004818G>T | CA412610796 | ARX | c.1541C>A (p.Ser514Ter) | COSMIC |
X | g.25004818_25004819insCAG | CA2842706011 | ARX | c.1541_1542insTGC (p.Ser514_Gly515insAla) | |
X | g.25004819A= | CA2420205950 | ARX | c.1540T= (p.Ser514=) | |
X | g.25004819A>C | CA412610797 | ARX | c.1540T>G (p.Ser514Ala) | |
X | g.25004819A>G | CA412610798 | ARX | c.1540T>C (p.Ser514Pro) | gnomAD v4 |
X | g.25004819A>T | CA412610799 | ARX | c.1540T>A (p.Ser514Thr) | dbSNP |
X | g.25004820T>A | CA515748092 | ARX | c.1539A>T (p.Ala513=) | |
X | g.25004820T>C | CA515748093 | ARX | c.1539A>G (p.Ala513=) | |
X | g.25004820T>G | CA515748094 | ARX | c.1539A>C (p.Ala513=) | |
X | g.25004821G>A | CA412610800 | ARX | c.1538C>T (p.Ala513Val) | |
X | g.25004821G>C | CA412610801 | ARX | c.1538C>G (p.Ala513Gly) | |
X | g.25004821G>T | CA412610802 | ARX | c.1538C>A (p.Ala513Glu) | |
X | g.25004822C>A | CA412610805 | ARX | c.1537G>T (p.Ala513Ser) | gnomAD v4 |
X | g.25004822C>G | CA412610803 | ARX | c.1537G>C (p.Ala513Pro) | |
X | g.25004822C>T | CA412610804 | ARX | c.1537G>A (p.Ala513Thr) | gnomAD v4 |
X | g.25004823C>A | CA515748095 | ARX | c.1536G>T (p.Val512=) | |
X | g.25004823C>G | CA515748096 | ARX | c.1536G>C (p.Val512=) | |
X | g.25004823C>T | CA515748097 | ARX | c.1536G>A (p.Val512=) | gnomAD v4 |
X | g.25004824A>C | CA412610806 | ARX | c.1535T>G (p.Val512Gly) | |
X | g.25004824A>G | CA412610807 | ARX | c.1535T>C (p.Val512Ala) | |
X | g.25004824A>T | CA412610808 | ARX | c.1535T>A (p.Val512Glu) | |
X | g.25004825C>A | CA412610809 | ARX | c.1534G>T (p.Val512Leu) | gnomAD v4 |
X | g.25004825C= | CA2420205951 | ARX | c.1534G= (p.Val512=) | |
X | g.25004825C>G | CA412610810 | ARX | c.1534G>C (p.Val512Leu) | dbSNP |
X | g.25004825C>T | CA412610811 | ARX | c.1534G>A (p.Val512Met) | |
X | g.25004826T>A | CA515748098 | ARX | c.1533A>T (p.Ala511=) | |
X | g.25004826T>C | CA515748099 | ARX | c.1533A>G (p.Ala511=) | ClinVar dbSNP gnomAD v4 |
X | g.25004826T>G | CA515748100 | ARX | c.1533A>C (p.Ala511=) | |
X | g.25004826T= | CA2420205952 | ARX | c.1533A= (p.Ala511=) | |
X | g.25004827G>A | CA412610812 | ARX | c.1532C>T (p.Ala511Val) | |
X | g.25004827G>C | CA412610813 | ARX | c.1532C>G (p.Ala511Gly) | |
X | g.25004827G>T | CA412610814 | ARX | c.1532C>A (p.Ala511Glu) | ClinVar dbSNP gnomAD v4 |
X | g.25004828C>A | CA412610815 | ARX | c.1531G>T (p.Ala511Ser) | dbSNP |
X | g.25004828C= | CA2420205953 | ARX | c.1531G= (p.Ala511=) | |
X | g.25004828C>G | CA412610816 | ARX | c.1531G>C (p.Ala511Pro) | |
X | g.25004828C>T | CA412610817 | ARX | c.1531G>A (p.Ala511Thr) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25004828dup | CA2740092064 | ARX | c.1531dup (p.Ala511GlyfsTer21) | ClinVar |
X | g.25004829G>A | CA515748101 | ARX | c.1530C>T (p.Gly510=) | dbSNP gnomAD v4 |
X | g.25004829G>C | CA515748102 | ARX | c.1530C>G (p.Gly510=) | |
X | g.25004829G= | CA2420205954 | ARX | c.1530C= (p.Gly510=) | |
X | g.25004829G>T | CA10373771 | ARX | c.1530C>A (p.Gly510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004830C>A | CA412610820 | ARX | c.1529G>T (p.Gly510Val) | gnomAD v4 |
X | g.25004830C= | CA2420205955 | ARX | c.1529G= (p.Gly510=) | |
X | g.25004830C>G | CA412610818 | ARX | c.1529G>C (p.Gly510Ala) | |
X | g.25004830C>T | CA412610819 | ARX | c.1529G>A (p.Gly510Asp) | ClinVar dbSNP gnomAD v4 |
X | g.25004831C>A | CA412610821 | ARX | c.1528G>T (p.Gly510Cys) | |
X | g.25004831C= | CA2420205956 | ARX | c.1528G= (p.Gly510=) | |
X | g.25004831C>G | CA412610822 | ARX | c.1528G>C (p.Gly510Arg) | |
X | g.25004831C>T | CA327732408 | ARX | c.1528G>A (p.Gly510Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25004832C>A | CA412610823 | ARX | c.1527G>T (p.Glu509Asp) | |
X | g.25004832C>G | CA412610824 | ARX | c.1527G>C (p.Glu509Asp) | |
X | g.25004832C>T | CA515748103 | ARX | c.1527G>A (p.Glu509=) | |
X | g.25004833T>A | CA412610825 | ARX | c.1526A>T (p.Glu509Val) | |
X | g.25004833T>C | CA412610826 | ARX | c.1526A>G (p.Glu509Gly) | |
X | g.25004833T>G | CA412610827 | ARX | c.1526A>C (p.Glu509Ala) | |
X | g.25004833_25004839dup | CA2580100516 | ARX | c.1520_1526dup (p.Glu509AspfsTer25) | ClinVar |
X | g.25004834C>A | CA412610828 | ARX | c.1525G>T (p.Glu509Ter) | gnomAD v4 |
X | g.25004834C>G | CA412610829 | ARX | c.1525G>C (p.Glu509Gln) | |
X | g.25004834C>T | CA412610830 | ARX | c.1525G>A (p.Glu509Lys) | gnomAD v4 |
X | g.25004835C>A | CA515748104 | ARX | c.1524G>T (p.Val508=) | gnomAD v4 |
X | g.25004835C= | CA2420205957 | ARX | c.1524G= (p.Val508=) | |
X | g.25004835C>G | CA515748105 | ARX | c.1524G>C (p.Val508=) | |
X | g.25004835C>T | CA327732409 | ARX | c.1524G>A (p.Val508=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004836A= | CA2420205958 | ARX | c.1523T= (p.Val508=) | |
X | g.25004836A>C | CA412610832 | ARX | c.1523T>G (p.Val508Gly) | |
X | g.25004836A>G | CA327732410 | ARX | c.1523T>C (p.Val508Ala) | dbSNP |
X | g.25004836A>T | CA412610831 | ARX | c.1523T>A (p.Val508Glu) | |
X | g.25004837C>A | CA412610833 | ARX | c.1522G>T (p.Val508Leu) | gnomAD v4 |
X | g.25004837C= | CA2420205959 | ARX | c.1522G= (p.Val508=) | |
X | g.25004837C>G | CA412610834 | ARX | c.1522G>C (p.Val508Leu) | |
X | g.25004837C>T | CA412610835 | ARX | c.1522G>A (p.Val508Met) | ClinVar dbSNP gnomAD v4 |
X | g.25004838G>A | CA515748106 | ARX | c.1521C>T (p.Ala507=) | |
X | g.25004838G>C | CA515748107 | ARX | c.1521C>G (p.Ala507=) | dbSNP |
X | g.25004838G= | CA2420205960 | ARX | c.1521C= (p.Ala507=) | |
X | g.25004838G>T | CA10373772 | ARX | c.1521C>A (p.Ala507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004839G>A | CA412610836 | ARX | c.1520C>T (p.Ala507Val) | gnomAD v4 |
X | g.25004839G>C | CA412610837 | ARX | c.1520C>G (p.Ala507Gly) | |
X | g.25004839G>T | CA412610838 | ARX | c.1520C>A (p.Ala507Asp) | gnomAD v4 |
X | g.25004840C>A | CA412610839 | ARX | c.1519G>T (p.Ala507Ser) | dbSNP gnomAD v2 gnomAD v4 |
X | g.25004840C= | CA2420205961 | ARX | c.1519G= (p.Ala507=) | |
X | g.25004840C>G | CA412610840 | ARX | c.1519G>C (p.Ala507Pro) | |
X | g.25004840C>T | CA412610841 | ARX | c.1519G>A (p.Ala507Thr) | gnomAD v4 |
X | g.25004841G>A | CA515748108 | ARX | c.1518C>T (p.Pro506=) | gnomAD v4 |
X | g.25004841G>C | CA515748109 | ARX | c.1518C>G (p.Pro506=) | ClinVar dbSNP |
X | g.25004841G= | CA2420205962 | ARX | c.1518C= (p.Pro506=) | |
X | g.25004841G>T | CA515748110 | ARX | c.1518C>A (p.Pro506=) | gnomAD v4 |
X | g.25004842G>A | CA412610842 | ARX | c.1517C>T (p.Pro506Leu) | gnomAD v4 |
X | g.25004842G>C | CA412610843 | ARX | c.1517C>G (p.Pro506Arg) | |
X | g.25004842G>T | CA412610844 | ARX | c.1517C>A (p.Pro506His) | gnomAD v4 |
X | g.25004843G>A | CA412610846 | ARX | c.1516C>T (p.Pro506Ser) | |
X | g.25004843G>C | CA412610847 | ARX | c.1516C>G (p.Pro506Ala) | dbSNP gnomAD v2 |
X | g.25004843G= | CA2420205963 | ARX | c.1516C= (p.Pro506=) | |
X | g.25004843G>T | CA412610845 | ARX | c.1516C>A (p.Pro506Thr) | gnomAD v4 |
X | g.25004844T>A | CA515748111 | ARX | c.1515A>T (p.Thr505=) | |
X | g.25004844T>C | CA10373773 | ARX | c.1515A>G (p.Thr505=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004844T>G | CA224123 | ARX | c.1515A>C (p.Thr505=) | ClinVar dbSNP gnomAD v4 |
X | g.25004844T= | CA2420205964 | ARX | c.1515A= (p.Thr505=) | |
X | g.25004845G>A | CA412610848 | ARX | c.1514C>T (p.Thr505Ile) | |
X | g.25004845G>C | CA412610849 | ARX | c.1514C>G (p.Thr505Arg) | |
X | g.25004845G>T | CA412610850 | ARX | c.1514C>A (p.Thr505Lys) | |
X | g.25004846T>A | CA412610851 | ARX | c.1513A>T (p.Thr505Ser) | |
X | g.25004846T>C | CA412610852 | ARX | c.1513A>G (p.Thr505Ala) | dbSNP |
X | g.25004846T>G | CA412610853 | ARX | c.1513A>C (p.Thr505Pro) | |
X | g.25004846T= | CA2420205965 | ARX | c.1513A= (p.Thr505=) | |
X | g.25004847G>A | CA515748114 | ARX | c.1512C>T (p.Pro504=) | gnomAD v4 |
X | g.25004847G>C | CA515748112 | ARX | c.1512C>G (p.Pro504=) | |
X | g.25004847G>T | CA515748113 | ARX | c.1512C>A (p.Pro504=) | gnomAD v4 |
X | g.25004848G>A | CA412610854 | ARX | c.1511C>T (p.Pro504Leu) | |
X | g.25004848G>C | CA412610855 | ARX | c.1511C>G (p.Pro504Arg) | |
X | g.25004848G>T | CA412610856 | ARX | c.1511C>A (p.Pro504His) | gnomAD v4 |
X | g.25004849G>A | CA412610859 | ARX | c.1510C>T (p.Pro504Ser) | gnomAD v4 |
X | g.25004849G>C | CA412610858 | ARX | c.1510C>G (p.Pro504Ala) | |
X | g.25004849G>T | CA412610857 | ARX | c.1510C>A (p.Pro504Thr) | gnomAD v4 |
X | g.25004850C>A | CA412610860 | ARX | c.1509G>T (p.Gln503His) | |
X | g.25004850C>G | CA412610861 | ARX | c.1509G>C (p.Gln503His) | |
X | g.25004850C>T | CA515748115 | ARX | c.1509G>A (p.Gln503=) | |
X | g.25004851T>A | CA412610862 | ARX | c.1508A>T (p.Gln503Leu) | |
X | g.25004851T>C | CA412610863 | ARX | c.1508A>G (p.Gln503Arg) | |
X | g.25004851T>G | CA412610864 | ARX | c.1508A>C (p.Gln503Pro) | |
X | g.25004852_25004853del | CA2695233368 | ARX | c.1507_1508del (p.Gln503AlafsTer28) | |
X | g.25004852G>A | CA412610865 | ARX | c.1507C>T (p.Gln503Ter) | |
X | g.25004852G>C | CA412610866 | ARX | c.1507C>G (p.Gln503Glu) | gnomAD v4 |
X | g.25004852G>T | CA412610867 | ARX | c.1507C>A (p.Gln503Lys) | gnomAD v4 |
X | g.25004853T>A | CA412610868 | ARX | c.1506A>T (p.Arg502Ser) | |
X | g.25004853T>C | CA515748116 | ARX | c.1506A>G (p.Arg502=) | |
X | g.25004853T>G | CA412610869 | ARX | c.1506A>C (p.Arg502Ser) | |
X | g.25004854C>A | CA412610870 | ARX | c.1505G>T (p.Arg502Ile) | gnomAD v4 |
X | g.25004854C= | CA2420205966 | ARX | c.1505G= (p.Arg502=) | |
X | g.25004854C>G | CA412610871 | ARX | c.1505G>C (p.Arg502Thr) | |
X | g.25004854C>T | CA412610872 | ARX | c.1505G>A (p.Arg502Lys) | dbSNP gnomAD v2 COSMIC |
X | g.25004855T>A | CA412610874 | ARX | c.1504A>T (p.Arg502Ter) | gnomAD v4 |
X | g.25004855T>C | CA412610873 | ARX | c.1504A>G (p.Arg502Gly) | gnomAD v4 |
X | g.25004855T>G | CA515748117 | ARX | c.1504A>C (p.Arg502=) | |
X | g.25004856C>A | CA515748120 | ARX | c.1503G>T (p.Leu501=) | gnomAD v4 |
X | g.25004856C>G | CA515748118 | ARX | c.1503G>C (p.Leu501=) | gnomAD v4 |
X | g.25004856C>T | CA515748119 | ARX | c.1503G>A (p.Leu501=) | ClinVar dbSNP |
X | g.25004857A>C | CA412610875 | ARX | c.1502T>G (p.Leu501Arg) | |
X | g.25004857A>G | CA412610877 | ARX | c.1502T>C (p.Leu501Pro) | gnomAD v4 |
X | g.25004857A>T | CA412610876 | ARX | c.1502T>A (p.Leu501Gln) | |
X | g.25004858G>A | CA515748121 | ARX | c.1501C>T (p.Leu501=) | |
X | g.25004858G>C | CA412610878 | ARX | c.1501C>G (p.Leu501Val) | |
X | g.25004858G>T | CA412610879 | ARX | c.1501C>A (p.Leu501Met) | dbSNP gnomAD v4 |
X | g.25004859G>A | CA515748122 | ARX | c.1500C>T (p.Leu500=) | dbSNP gnomAD v4 |
X | g.25004859G>C | CA515748123 | ARX | c.1500C>G (p.Leu500=) | ClinVar dbSNP gnomAD v4 |
X | g.25004859G= | CA2420205967 | ARX | c.1500C= (p.Leu500=) | |
X | g.25004859G>T | CA515748124 | ARX | c.1500C>A (p.Leu500=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.25004860A>C | CA412610880 | ARX | c.1499T>G (p.Leu500Arg) n.87T>G | |
X | g.25004860A>G | CA412610881 | ARX | c.1499T>C (p.Leu500Pro) n.87T>C | gnomAD v4 |
X | g.25004860A>T | CA412610882 | ARX | c.1499T>A (p.Leu500His) n.87T>A | |
X | g.25004861G>A | CA412610883 | ARX | c.1498C>T (p.Leu500Phe) n.86C>T | gnomAD v4 |
X | g.25004861G>C | CA412610884 | ARX | c.1498C>G (p.Leu500Val) n.86C>G | |
X | g.25004861G>T | CA412610885 | ARX | c.1498C>A (p.Leu500Ile) n.86C>A | ClinVar dbSNP |
X | g.25004862del | CA2580100517 | ARX | c.1497del (p.Leu500SerfsTer2) n.85del | ClinVar |
X | g.25004862C>A | CA10373774 | ARX | c.1497G>T (p.Ala499=) n.85G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004862C= | CA2420205968 | ARX | c.1497G= (p.Ala499=) n.85G= | |
X | g.25004862C>G | CA515748125 | ARX | c.1497G>C (p.Ala499=) n.85G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004862C>T | CA327732411 | ARX | c.1497G>A (p.Ala499=) n.85G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004863G>A | CA412610886 | ARX | c.1496C>T (p.Ala499Val) n.84C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25004863G>C | CA412610887 | ARX | c.1496C>G (p.Ala499Gly) n.84C>G | |
X | g.25004863G= | CA2420205969 | ARX | c.1496C= (p.Ala499=) n.84C= | |
X | g.25004863G>T | CA412610888 | ARX | c.1496C>A (p.Ala499Glu) n.84C>A | |
X | g.25004864C>A | CA412610891 | ARX | c.1495G>T (p.Ala499Ser) n.83G>T | gnomAD v4 |
X | g.25004864C>G | CA412610890 | ARX | c.1495G>C (p.Ala499Pro) n.83G>C | ClinVar dbSNP gnomAD v4 |
X | g.25004864C>T | CA412610889 | ARX | c.1495G>A (p.Ala499Thr) n.83G>A | ClinVar dbSNP |
X | g.25004865G>A | CA515748126 | ARX | c.1494C>T (p.Ala498=) n.82C>T | gnomAD v4 |
X | g.25004865G>C | CA515748127 | ARX | c.1494C>G (p.Ala498=) n.82C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25004865G= | CA2420205970 | ARX | c.1494C= (p.Ala498=) n.82C= | |
X | g.25004865G>T | CA515748128 | ARX | c.1494C>A (p.Ala498=) n.82C>A | gnomAD v4 |
X | g.25004866G>A | CA412610892 | ARX | c.1493C>T (p.Ala498Val) n.81C>T | gnomAD v4 |
X | g.25004866G>C | CA412610893 | ARX | c.1493C>G (p.Ala498Gly) n.81C>G | |
X | g.25004866G>T | CA412610894 | ARX | c.1493C>A (p.Ala498Asp) n.81C>A | gnomAD v4 |
X | g.25004867C>A | CA412610895 | ARX | c.1492G>T (p.Ala498Ser) n.80G>T | gnomAD v4 |
X | g.25004867C>G | CA412610896 | ARX | c.1492G>C (p.Ala498Pro) n.80G>C | |
X | g.25004867C>T | CA412610897 | ARX | c.1492G>A (p.Ala498Thr) n.80G>A | gnomAD v4 |
X | g.25004868C>A | CA515748129 | ARX | c.1491G>T (p.Ala497=) n.79G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25004868C= | CA2420205971 | ARX | c.1491G= (p.Ala497=) n.79G= | |
X | g.25004868C>G | CA515748130 | ARX | c.1491G>C (p.Ala497=) n.79G>C | gnomAD v4 |
X | g.25004868C>T | CA327732412 | ARX | c.1491G>A (p.Ala497=) n.79G>A | dbSNP gnomAD v4 |
X | g.25004869G>A | CA412610898 | ARX | c.1490C>T (p.Ala497Val) n.78C>T | gnomAD v4 |
X | g.25004869G>C | CA412610899 | ARX | c.1490C>G (p.Ala497Gly) n.78C>G | |
X | g.25004869G>T | CA412610900 | ARX | c.1490C>A (p.Ala497Glu) n.78C>A | |
X | g.25004870C>A | CA412610901 | ARX | c.1489G>T (p.Ala497Ser) n.77G>T | gnomAD v4 |
X | g.25004870C= | CA2420205972 | ARX | c.1489G= (p.Ala497=) n.77G= | |
X | g.25004870C>G | CA412610902 | ARX | c.1489G>C (p.Ala497Pro) n.77G>C | ClinVar dbSNP gnomAD v4 |
X | g.25004870C>T | CA412610903 | ARX | c.1489G>A (p.Ala497Thr) n.77G>A | gnomAD v4 |
X | g.25004871G>A | CA10373775 | ARX | c.1488C>T (p.Thr496=) n.76C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004871G>C | CA515748132 | ARX | c.1488C>G (p.Thr496=) n.76C>G | gnomAD v4 |
X | g.25004871G= | CA2420205973 | ARX | c.1488C= (p.Thr496=) n.76C= | |
X | g.25004871G>T | CA515748131 | ARX | c.1488C>A (p.Thr496=) n.76C>A | |
X | g.25004872G>A | CA412610905 | ARX | c.1487C>T (p.Thr496Ile) n.75C>T | gnomAD v4 |
X | g.25004872G>C | CA412610906 | ARX | c.1487C>G (p.Thr496Ser) n.75C>G | |
X | g.25004872G>T | CA412610904 | ARX | c.1487C>A (p.Thr496Asn) n.75C>A | gnomAD v4 |
X | g.25004873T>A | CA412610907 | ARX | c.1486A>T (p.Thr496Ser) n.74A>T | |
X | g.25004873T>C | CA412610908 | ARX | c.1486A>G (p.Thr496Ala) n.74A>G | |
X | g.25004873T>G | CA412610909 | ARX | c.1486A>C (p.Thr496Pro) n.74A>C | |
X | g.25004874C>A | CA515748135 | ARX | c.1485G>T (p.Ser495=) n.73G>T | gnomAD v4 |
X | g.25004874C>G | CA515748133 | ARX | c.1485G>C (p.Ser495=) n.73G>C | |
X | g.25004874C>T | CA515748134 | ARX | c.1485G>A (p.Ser495=) n.73G>A | gnomAD v4 |
X | g.25004875G>A | CA412610910 | ARX | c.1484C>T (p.Ser495Leu) n.72C>T | gnomAD v4 |
X | g.25004875G>C | CA412610911 | ARX | c.1484C>G (p.Ser495Trp) n.72C>G | ClinVar dbSNP gnomAD v4 |
X | g.25004875G>T | CA412610912 | ARX | c.1484C>A (p.Ser495Ter) n.72C>A | gnomAD v4 |
X | g.25004876A>C | CA412610913 | ARX | c.1483T>G (p.Ser495Ala) n.71T>G | |
X | g.25004876A>G | CA412610914 | ARX | c.1483T>C (p.Ser495Pro) n.71T>C | |
X | g.25004876A>T | CA412610915 | ARX | c.1483T>A (p.Ser495Thr) n.71T>A | |
X | g.25004877C>A | CA515748136 | ARX | c.1482G>T (p.Ala494=) n.70G>T | gnomAD v4 |
X | g.25004877C>G | CA515748138 | ARX | c.1482G>C (p.Ala494=) n.70G>C | |
X | g.25004877C>T | CA515748137 | ARX | c.1482G>A (p.Ala494=) n.70G>A | gnomAD v4 |
X | g.25004878G>A | CA412610916 | ARX | c.1481C>T (p.Ala494Val) n.69C>T | gnomAD v4 |
X | g.25004878G>C | CA412610917 | ARX | c.1481C>G (p.Ala494Gly) n.69C>G | |
X | g.25004878G>T | CA412610918 | ARX | c.1481C>A (p.Ala494Glu) n.69C>A | |
X | g.25004879C>A | CA10373776 | ARX | c.1480G>T (p.Ala494Ser) n.68G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25004879C= | CA2420205974 | ARX | c.1480G= (p.Ala494=) n.68G= | |
X | g.25004879C>G | CA412610919 | ARX | c.1480G>C (p.Ala494Pro) n.68G>C | |
X | g.25004879C>T | CA412610920 | ARX | c.1480G>A (p.Ala494Thr) n.68G>A | gnomAD v4 |
X | g.25004880G>A | CA515748139 | ARX | c.1479C>T (p.Ser493=) n.67C>T | ClinVar dbSNP gnomAD v4 |
X | g.25004880G>C | CA412610921 | ARX | c.1479C>G (p.Ser493Arg) n.67C>G | ClinVar dbSNP |
X | g.25004880G= | CA2420205975 | ARX | c.1479C= (p.Ser493=) n.67C= | |
X | g.25004880G>T | CA412610922 | ARX | c.1479C>A (p.Ser493Arg) n.67C>A | gnomAD v4 |
X | g.25004881C>A | CA412610923 | ARX | c.1478G>T (p.Ser493Ile) n.66G>T | gnomAD v4 |
X | g.25004881C>G | CA412610924 | ARX | c.1478G>C (p.Ser493Thr) n.66G>C | |
X | g.25004881C>T | CA412610925 | ARX | c.1478G>A (p.Ser493Asn) n.66G>A | gnomAD v4 |
X | g.25004882T>A | CA412610926 | ARX | c.1477A>T (p.Ser493Cys) n.65A>T | |
X | g.25004882T>C | CA412610927 | ARX | c.1477A>G (p.Ser493Gly) n.65A>G | |
X | g.25004882T>G | CA412610928 | ARX | c.1477A>C (p.Ser493Arg) n.65A>C | |
X | g.25004883G>A | CA515748140 | ARX | c.1476C>T (p.Thr492=) n.64C>T | gnomAD v4 |
X | g.25004883G>C | CA515748141 | ARX | c.1476C>G (p.Thr492=) n.64C>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.25004883G= | CA2420205976 | ARX | c.1476C= (p.Thr492=) n.64C= | |
X | g.25004883G>T | CA515748142 | ARX | c.1476C>A (p.Thr492=) n.64C>A | gnomAD v4 |
X | g.25004884G>A | CA412610929 | ARX | c.1475C>T (p.Thr492Ile) n.63C>T | gnomAD v4 |
X | g.25004884G>C | CA10373777 | ARX | c.1475C>G (p.Thr492Ser) n.63C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004884G= | CA2420205977 | ARX | c.1475C= (p.Thr492=) n.63C= | |
X | g.25004884G>T | CA412610930 | ARX | c.1475C>A (p.Thr492Asn) n.63C>A | gnomAD v4 |
X | g.25004885T>A | CA412610932 | ARX | c.1474A>T (p.Thr492Ser) n.62A>T | |
X | g.25004885T>C | CA412610933 | ARX | c.1474A>G (p.Thr492Ala) n.62A>G | |
X | g.25004885T>G | CA412610931 | ARX | c.1474A>C (p.Thr492Pro) n.62A>C | |
X | g.25004886C>A | CA515748143 | ARX | c.1473G>T (p.Leu491=) n.61G>T | gnomAD v4 |
X | g.25004886C>G | CA515748144 | ARX | c.1473G>C (p.Leu491=) n.61G>C | ClinVar gnomAD v4 |
X | g.25004886C>T | CA515748145 | ARX | c.1473G>A (p.Leu491=) n.61G>A | gnomAD v4 |
X | g.25004887del | CA2499226599 | ARX | c.1472del (p.Leu491ArgfsTer11) n.60del | ClinVar dbSNP |
X | g.25004887A>C | CA412610936 | ARX | c.1472T>G (p.Leu491Arg) n.60T>G | |
X | g.25004887A>G | CA412610934 | ARX | c.1472T>C (p.Leu491Pro) n.60T>C | gnomAD v4 |
X | g.25004887A>T | CA412610935 | ARX | c.1472T>A (p.Leu491Gln) n.60T>A | |
X | g.25004887_25004888delinsAG | CA2420205978 | ARX | c.1471_1472delinsCT (p.Leu491=) n.59_60delinsCT | |
X | g.25004888G>A | CA515748146 | ARX | c.1471C>T (p.Leu491=) n.59C>T | |
X | g.25004888G>C | CA327732413 | ARX | c.1471C>G (p.Leu491Val) n.59C>G | dbSNP |
X | g.25004888G= | CA2420205979 | ARX | c.1471C= (p.Leu491=) n.59C= | |
X | g.25004888G>T | CA10373778 | ARX | c.1471C>A (p.Leu491Met) n.59C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004893dup | CA213346 | ARX | c.1471dup (p.Leu491ProfsTer?) n.59dup | ClinVar dbSNP |
X | g.25004893del | CA1139667340 | ARX | c.1471del (p.Leu491Ter) n.59del | ClinVar dbSNP gnomAD v4 |
X | g.25004889G>A | CA515748149 | ARX | c.1470C>T (p.Pro490=) n.58C>T | dbSNP gnomAD v2 gnomAD v4 |
X | g.25004889G>C | CA515748148 | ARX | c.1470C>G (p.Pro490=) n.58C>G | dbSNP |
X | g.25004889G= | CA2420205980 | ARX | c.1470C= (p.Pro490=) n.58C= | |
X | g.25004889G>T | CA515748147 | ARX | c.1470C>A (p.Pro490=) n.58C>A | ClinVar gnomAD v4 |
X | g.25004889_25004890delinsA | CA913187411 | ARX | c.1469_1470delinsT (p.Pro490LeufsTer2) n.57_58delinsT | |
X | g.25004890G>A | CA412610937 | ARX | c.1469C>T (p.Pro490Leu) n.57C>T | ClinVar dbSNP |
X | g.25004890G>C | CA412610938 | ARX | c.1469C>G (p.Pro490Arg) n.57C>G | |
X | g.25004890G= | CA2420205981 | ARX | c.1469C= (p.Pro490=) n.57C= | |
X | g.25004890G>T | CA412610939 | ARX | c.1469C>A (p.Pro490His) n.57C>A | gnomAD v4 |
X | g.25004895_25004997dup | CA213339 | ARX | c.1449-82_1469dup n.37-82_57dup | ClinVar dbSNP |
X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup | ClinVar |
X | g.25004891G>A | CA412610940 | ARX | c.1468C>T (p.Pro490Ser) n.56C>T | gnomAD v4 |
X | g.25004891G>C | CA412610941 | ARX | c.1468C>G (p.Pro490Ala) n.56C>G | |
X | g.25004891G>T | CA412610942 | ARX | c.1468C>A (p.Pro490Thr) n.56C>A | gnomAD v4 |
X | g.25004892G>A | CA515748152 | ARX | c.1467C>T (p.Ala489=) n.55C>T | gnomAD v4 |
X | g.25004892G>C | CA515748151 | ARX | c.1467C>G (p.Ala489=) n.55C>G | gnomAD v4 |
X | g.25004892G>T | CA515748150 | ARX | c.1467C>A (p.Ala489=) n.55C>A | gnomAD v4 |
X | g.25004893G>A | CA412610944 | ARX | c.1466C>T (p.Ala489Val) n.54C>T | gnomAD v4 |
X | g.25004893G>C | CA412610945 | ARX | c.1466C>G (p.Ala489Gly) n.54C>G | |
X | g.25004893G>T | CA412610943 | ARX | c.1466C>A (p.Ala489Asp) n.54C>A | gnomAD v4 |
X | g.25004893_25004894delinsGC | CA2420205982 | ARX | c.1465_1466delinsGC (p.Ala489=) n.53_54delinsGC | |
X | g.25004894C>A | CA412610946 | ARX | c.1465G>T (p.Ala489Ser) n.53G>T | gnomAD v4 |
X | g.25004894C>G | CA412610947 | ARX | c.1465G>C (p.Ala489Pro) n.53G>C | gnomAD v4 |
X | g.25004894C>T | CA412610948 | ARX | c.1465G>A (p.Ala489Thr) n.53G>A | gnomAD v4 |
X | g.25004895del | CA213235 | ARX | c.1465del (p.Ala489ProfsTer3) n.53del | ClinVar dbSNP |
X | g.25004895C>A | CA412610951 | ARX | c.1464G>T (p.Met488Ile) n.52G>T | gnomAD v4 |
X | g.25004895C>G | CA412610950 | ARX | c.1464G>C (p.Met488Ile) n.52G>C | |
X | g.25004895C>T | CA412610949 | ARX | c.1464G>A (p.Met488Ile) n.52G>A | gnomAD v4 |
X | g.25004896A= | CA2420205983 | ARX | c.1463T= (p.Met488=) n.51T= | |
X | g.25004896A>C | CA412610952 | ARX | c.1463T>G (p.Met488Arg) n.51T>G | |
X | g.25004896A>G | CA10373779 | ARX | c.1463T>C (p.Met488Thr) n.51T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25004896A>T | CA412610953 | ARX | c.1463T>A (p.Met488Lys) n.51T>A | |
X | g.25004897T>A | CA412610954 | ARX | c.1462A>T (p.Met488Leu) n.50A>T | |
X | g.25004897T>C | CA10373780 | ARX | c.1462A>G (p.Met488Val) n.50A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25004897T>G | CA412610955 | ARX | c.1462A>C (p.Met488Leu) n.50A>C | |
X | g.25004897T= | CA2420205984 | ARX | c.1462A= (p.Met488=) n.50A= | |
X | g.25004898T>A | CA515748155 | ARX | c.1461A>T (p.Thr487=) n.49A>T | |
X | g.25004898T>C | CA515748154 | ARX | c.1461A>G (p.Thr487=) n.49A>G | ClinVar dbSNP |
X | g.25004898T>G | CA515748153 | ARX | c.1461A>C (p.Thr487=) n.49A>C | |
X | g.25004898T= | CA2420205985 | ARX | c.1461A= (p.Thr487=) n.49A= | |
X | g.25004899G>A | CA412610958 | ARX | c.1460C>T (p.Thr487Ile) n.48C>T | gnomAD v4 |
X | g.25004899G>C | CA412610957 | ARX | c.1460C>G (p.Thr487Arg) n.48C>G | |
X | g.25004899G>T | CA412610956 | ARX | c.1460C>A (p.Thr487Lys) n.48C>A | |
X | g.25004900del | CA2695233369 | ARX | c.1459del (p.Thr487GlnfsTer5) n.47del | |
X | g.25004900T>A | CA412610959 | ARX | c.1459A>T (p.Thr487Ser) n.47A>T | |
X | g.25004900T>C | CA412610960 | ARX | c.1459A>G (p.Thr487Ala) n.47A>G | gnomAD v4 |
X | g.25004900T>G | CA412610961 | ARX | c.1459A>C (p.Thr487Pro) n.47A>C | |
X | g.25004901G>A | CA515748156 | ARX | c.1458C>T (p.Ser486=) n.46C>T | gnomAD v4 |
X | g.25004901G>C | CA515748157 | ARX | c.1458C>G (p.Ser486=) n.46C>G | |
X | g.25004901G>T | CA515748158 | ARX | c.1458C>A (p.Ser486=) n.46C>A | gnomAD v4 |
X | g.25004902G>A | CA412610962 | ARX | c.1457C>T (p.Ser486Phe) n.45C>T | dbSNP gnomAD v4 |
X | g.25004902G>C | CA412610963 | ARX | c.1457C>G (p.Ser486Cys) n.45C>G | |
X | g.25004902G>T | CA412610964 | ARX | c.1457C>A (p.Ser486Tyr) n.45C>A | gnomAD v4 |
X | g.25004902_25004903delinsGA | CA2420205986 | ARX | c.1456_1457delinsTC (p.Ser486=) n.44_45delinsTC | |
X | g.25004903A>C | CA412610967 | ARX | c.1456T>G (p.Ser486Ala) n.44T>G | |
X | g.25004903A>G | CA412610965 | ARX | c.1456T>C (p.Ser486Pro) n.44T>C | |
X | g.25004903A>T | CA412610966 | ARX | c.1456T>A (p.Ser486Thr) n.44T>A | |
X | g.25004906del | CA641364674 | ARX | c.1456del (p.Ser486ProfsTer6) n.44del | dbSNP gnomAD v2 gnomAD v4 |
X | g.25004903_25004911del | CA2695233370 | ARX | c.1449-1_1456del n.37-1_44del | |
X | g.25004904A>C | CA412610968 | ARX | c.1455T>G (p.Phe485Leu) n.43T>G | |
X | g.25004904A>G | CA515748159 | ARX | c.1455T>C (p.Phe485=) n.43T>C | |
X | g.25004904A>T | CA412610969 | ARX | c.1455T>A (p.Phe485Leu) n.43T>A | |
X | g.25004905A>C | CA412610970 | ARX | c.1454T>G (p.Phe485Cys) n.42T>G | |
X | g.25004905A>G | CA412610971 | ARX | c.1454T>C (p.Phe485Ser) n.42T>C | gnomAD v4 |
X | g.25004905A>T | CA412610972 | ARX | c.1454T>A (p.Phe485Tyr) n.42T>A | |
X | g.25004906A>C | CA412610973 | ARX | c.1453T>G (p.Phe485Val) n.41T>G | |
X | g.25004906A>G | CA412610975 | ARX | c.1453T>C (p.Phe485Leu) n.41T>C | gnomAD v4 |
X | g.25004906A>T | CA412610974 | ARX | c.1453T>A (p.Phe485Ile) n.41T>A | gnomAD v4 |
X | g.25004911_25004923del | CA2573158584 | ARX | c.1449-8_1453del n.37-8_41del | ClinVar dbSNP |
X | g.25004907G>A | CA515748160 | ARX | c.1452C>T (p.Leu484=) n.40C>T | gnomAD v4 |
X | g.25004907G>C | CA515748161 | ARX | c.1452C>G (p.Leu484=) n.40C>G | dbSNP gnomAD v2 gnomAD v4 |
X | g.25004907G= | CA2420205987 | ARX | c.1452C= (p.Leu484=) n.40C= | |
X | g.25004907G>T | CA515748162 | ARX | c.1452C>A (p.Leu484=) n.40C>A | |
X | g.25004908A>C | CA412610976 | ARX | c.1451T>G (p.Leu484Arg) n.39T>G | |
X | g.25004908A>G | CA412610977 | ARX | c.1451T>C (p.Leu484Pro) n.39T>C | |
X | g.25004908A>T | CA412610978 | ARX | c.1451T>A (p.Leu484His) n.39T>A |