Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013111_25013113dup | CA2580616913 | ARX | c.890_892dup (p.Leu297_His298insLeu) | |
X | g.25013111_25013113del | CA2579576416 | ARX | c.890_892del (p.Leu297del) | |
X | g.25013105A>C | CA412612229 | ARX | c.890T>G (p.Leu297Arg) | |
X | g.25013105A>G | CA412612230 | ARX | c.890T>C (p.Leu297Pro) | gnomAD v4 |
X | g.25013105A>T | CA412612231 | ARX | c.890T>A (p.Leu297Gln) | |
X | g.25013106G>A | CA515947301 | ARX | c.889C>T (p.Leu297=) | |
X | g.25013106G>C | CA412612232 | ARX | c.889C>G (p.Leu297Val) | |
X | g.25013106G>T | CA412612233 | ARX | c.889C>A (p.Leu297Met) | |
X | g.25013107C>A | CA515947302 | ARX | c.888G>T (p.Leu296=) | |
X | g.25013107C>G | CA515947304 | ARX | c.888G>C (p.Leu296=) | |
X | g.25013107C>T | CA515947306 | ARX | c.888G>A (p.Leu296=) | |
X | g.25013108A= | CA2420209114 | ARX | c.887T= (p.Leu296=) | |
X | g.25013108A>C | CA10373867 | ARX | c.887T>G (p.Leu296Arg) | dbSNP ExAC gnomAD v4 |
X | g.25013108A>G | CA412612234 | ARX | c.887T>C (p.Leu296Pro) | ClinVar |
X | g.25013108A>T | CA412612235 | ARX | c.887T>A (p.Leu296Gln) | |
X | g.25013109G>A | CA515947311 | ARX | c.886C>T (p.Leu296=) | gnomAD v4 |
X | g.25013109G>C | CA412612236 | ARX | c.886C>G (p.Leu296Val) | |
X | g.25013109G>T | CA412612237 | ARX | c.886C>A (p.Leu296Met) | |
X | g.25013110C>A | CA515947316 | ARX | c.885G>T (p.Leu295=) | gnomAD v4 |
X | g.25013110C>G | CA515947317 | ARX | c.885G>C (p.Leu295=) | |
X | g.25013110C>T | CA515947318 | ARX | c.885G>A (p.Leu295=) | |
X | g.25013111A>C | CA412612238 | ARX | c.884T>G (p.Leu295Arg) | gnomAD v4 |
X | g.25013111A>G | CA412612240 | ARX | c.884T>C (p.Leu295Pro) | |
X | g.25013111A>T | CA412612239 | ARX | c.884T>A (p.Leu295Gln) | |
X | g.25013112G>A | CA515947321 | ARX | c.883C>T (p.Leu295=) | gnomAD v4 |
X | g.25013112G>C | CA412612241 | ARX | c.883C>G (p.Leu295Val) | |
X | g.25013112G>T | CA412612242 | ARX | c.883C>A (p.Leu295Met) | |
X | g.25013113C>A | CA412612243 | ARX | c.882G>T (p.Glu294Asp) | |
X | g.25013113C>G | CA412612244 | ARX | c.882G>C (p.Glu294Asp) | |
X | g.25013113C>T | CA515947332 | ARX | c.882G>A (p.Glu294=) | |
X | g.25013114T>A | CA412612245 | ARX | c.881A>T (p.Glu294Val) | |
X | g.25013114T>C | CA412612246 | ARX | c.881A>G (p.Glu294Gly) | |
X | g.25013114T>G | CA412612247 | ARX | c.881A>C (p.Glu294Ala) | |
X | g.25013115C>A | CA412612250 | ARX | c.880G>T (p.Glu294Ter) | |
X | g.25013115C>G | CA412612248 | ARX | c.880G>C (p.Glu294Gln) | |
X | g.25013115C>T | CA412612249 | ARX | c.880G>A (p.Glu294Lys) | |
X | g.25013116C>A | CA412612251 | ARX | c.879G>T (p.Glu293Asp) | |
X | g.25013116C>G | CA412612252 | ARX | c.879G>C (p.Glu293Asp) | |
X | g.25013116C>T | CA515947338 | ARX | c.879G>A (p.Glu293=) | |
X | g.25013117T>A | CA412612253 | ARX | c.878A>T (p.Glu293Val) | |
X | g.25013117T>C | CA412612254 | ARX | c.878A>G (p.Glu293Gly) | |
X | g.25013117T>G | CA412612255 | ARX | c.878A>C (p.Glu293Ala) | |
X | g.25013118C>A | CA412612256 | ARX | c.877G>T (p.Glu293Ter) | gnomAD v4 |
X | g.25013118C>G | CA412612258 | ARX | c.877G>C (p.Glu293Gln) | |
X | g.25013118C>T | CA412612257 | ARX | c.877G>A (p.Glu293Lys) | |
X | g.25013119C>A | CA412612259 | ARX | c.876G>T (p.Lys292Asn) | |
X | g.25013119C>G | CA412612260 | ARX | c.876G>C (p.Lys292Asn) | |
X | g.25013119C>T | CA515947347 | ARX | c.876G>A (p.Lys292=) | |
X | g.25013120T>A | CA412612261 | ARX | c.875A>T (p.Lys292Met) |