| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013434G>A | CA515948234 | ARX | c.561C>T (p.Pro187=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013434G>C | CA515948235 | ARX | c.561C>G (p.Pro187=) | gnomAD v4 |
| X | g.25013434G= | CA2420209266 | ARX | c.561C= (p.Pro187=) | |
| X | g.25013434G>T | CA515948238 | ARX | c.561C>A (p.Pro187=) | gnomAD v4 |
| X | g.25013436del | CA2693353699 | ARX | c.561del (p.Ala188ArgfsTer?) | gnomAD v4 |
| X | g.25013434_25013437delinsGGGC | CA2420209265 | ARX | c.558_561delinsGCCC (p.Pro186=) | |
| X | g.25013435G>A | CA412612911 | ARX | c.560C>T (p.Pro187Leu) | gnomAD v4 |
| X | g.25013435G>C | CA412612912 | ARX | c.560C>G (p.Pro187Arg) | |
| X | g.25013435G>T | CA412612913 | ARX | c.560C>A (p.Pro187His) | gnomAD v4 |
| X | g.25013444_25013446dup | CA641364633 | ARX | c.558_560dup (p.Pro187_Ala188insPro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013444_25013446del | CA641364632 | ARX | c.558_560del (p.Pro187del) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013436G>A | CA412612916 | ARX | c.559C>T (p.Pro187Ser) | gnomAD v4 |
| X | g.25013436G>C | CA412612914 | ARX | c.559C>G (p.Pro187Ala) | |
| X | g.25013436G>T | CA412612915 | ARX | c.559C>A (p.Pro187Thr) | gnomAD v4 |
| X | g.25013437del | CA2693353700 | ARX | c.558del (p.Ala188ArgfsTer?) | gnomAD v4 |
| X | g.25013437C>A | CA10373894 | ARX | c.558G>T (p.Pro186=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013437C= | CA2420209267 | ARX | c.558G= (p.Pro186=) | |
| X | g.25013437C>G | CA515948247 | ARX | c.558G>C (p.Pro186=) | gnomAD v4 |
| X | g.25013437C>T | CA515948244 | ARX | c.558G>A (p.Pro186=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013438G>A | CA412612917 | ARX | c.557C>T (p.Pro186Leu) | gnomAD v4 |
| X | g.25013438G>C | CA412612918 | ARX | c.557C>G (p.Pro186Arg) | |
| X | g.25013438G= | CA2420209268 | ARX | c.557C= (p.Pro186=) | |
| X | g.25013438G>T | CA16609171 | ARX | c.557C>A (p.Pro186Gln) | ClinVar dbSNP gnomAD v4 |
| X | g.25013439dup | CA2740097963 | ARX | c.557dup (p.Pro187AlafsTer?) | |
| X | g.25013439G>A | CA412612919 | ARX | c.556C>T (p.Pro186Ser) | gnomAD v4 |
| X | g.25013439G>C | CA412612920 | ARX | c.556C>G (p.Pro186Ala) | gnomAD v4 |
| X | g.25013439G>T | CA412612921 | ARX | c.556C>A (p.Pro186Thr) | gnomAD v4 |
| X | g.25013440del | CA2693353701 | ARX | c.555del (p.Pro186ArgfsTer?) | gnomAD v4 |
| X | g.25013440C>A | CA515948253 | ARX | c.555G>T (p.Pro185=) | gnomAD v4 |
| X | g.25013440C= | CA2420209269 | ARX | c.555G= (p.Pro185=) | |
| X | g.25013440C>G | CA515948251 | ARX | c.555G>C (p.Pro185=) | gnomAD v4 |
| X | g.25013440C>T | CA515948252 | ARX | c.555G>A (p.Pro185=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013441G>A | CA412612922 | ARX | c.554C>T (p.Pro185Leu) | gnomAD v4 |
| X | g.25013441G>C | CA412612923 | ARX | c.554C>G (p.Pro185Arg) | gnomAD v4 |
| X | g.25013441G= | CA2420209270 | ARX | c.554C= (p.Pro185=) | |
| X | g.25013441G>T | CA327733053 | ARX | c.554C>A (p.Pro185Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013442G>A | CA412612926 | ARX | c.553C>T (p.Pro185Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.25013442G>C | CA412612925 | ARX | c.553C>G (p.Pro185Ala) | gnomAD v4 |
| X | g.25013442G= | CA2420209271 | ARX | c.553C= (p.Pro185=) | |
| X | g.25013442G>T | CA412612924 | ARX | c.553C>A (p.Pro185Thr) | gnomAD v4 |
| X | g.25013443C>A | CA515948259 | ARX | c.552G>T (p.Pro184=) | gnomAD v4 |
| X | g.25013443C>G | CA515948260 | ARX | c.552G>C (p.Pro184=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013443C>T | CA515948258 | ARX | c.552G>A (p.Pro184=) | gnomAD v4 COSMIC |
| X | g.25013444G>A | CA412612927 | ARX | c.551C>T (p.Pro184Leu) | gnomAD v3 gnomAD v4 |
| X | g.25013444G>C | CA412612928 | ARX | c.551C>G (p.Pro184Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.25013444G= | CA2420209272 | ARX | c.551C= (p.Pro184=) | |
| X | g.25013444G>T | CA412612929 | ARX | c.551C>A (p.Pro184Gln) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013445G>A | CA412612930 | ARX | c.550C>T (p.Pro184Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013445G>C | CA412612931 | ARX | c.550C>G (p.Pro184Ala) | gnomAD v4 |