Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
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=) | 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 |