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