Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
X | g.25013069T>A | CA412612147 | ARX | c.926A>T (p.Asp309Val) | |
X | g.25013069T>C | CA412612148 | ARX | c.926A>G (p.Asp309Gly) | |
X | g.25013069T>G | CA412612146 | ARX | c.926A>C (p.Asp309Ala) | |
X | g.25013070C>A | CA412612149 | ARX | c.925G>T (p.Asp309Tyr) | |
X | g.25013070C>G | CA412612150 | ARX | c.925G>C (p.Asp309His) | COSMIC |
X | g.25013070C>T | CA412612151 | ARX | c.925G>A (p.Asp309Asn) | |
X | g.25013071C>A | CA412612152 | ARX | c.924G>T (p.Glu308Asp) | gnomAD v4 |
X | g.25013071C>G | CA412612153 | ARX | c.924G>C (p.Glu308Asp) | |
X | g.25013071C>T | CA515947219 | ARX | c.924G>A (p.Glu308=) | ClinVar |
X | g.25013072T>A | CA412612154 | ARX | c.923A>T (p.Glu308Val) | |
X | g.25013072T>C | CA412612155 | ARX | c.923A>G (p.Glu308Gly) | |
X | g.25013072T>G | CA412612156 | ARX | c.923A>C (p.Glu308Ala) | |
X | g.25013073C>A | CA412612157 | ARX | c.922G>T (p.Glu308Ter) | ClinVar dbSNP |
X | g.25013073C= | CA2420209104 | ARX | c.922G= (p.Glu308=) | |
X | g.25013073C>G | CA412612158 | ARX | c.922G>C (p.Glu308Gln) | |
X | g.25013073C>T | CA412612159 | ARX | c.922G>A (p.Glu308Lys) | gnomAD v4 |
X | g.25013074_25013075del | CA2579576415 | ARX | c.921_922del (p.Glu308GlyfsTer?) | |
X | g.25013074G>A | CA224139 | ARX | c.921C>T (p.Gly307=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.25013074G>C | CA515947224 | ARX | c.921C>G (p.Gly307=) | |
X | g.25013074G= | CA2420209105 | ARX | c.921C= (p.Gly307=) | |
X | g.25013074G>T | CA10373862 | ARX | c.921C>A (p.Gly307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013075C>A | CA412612162 | ARX | c.920G>T (p.Gly307Val) | |
X | g.25013075C>G | CA412612161 | ARX | c.920G>C (p.Gly307Ala) | |
X | g.25013075C>T | CA412612160 | ARX | c.920G>A (p.Gly307Asp) | |
X | g.25013076C>A | CA412612163 | ARX | c.919G>T (p.Gly307Cys) | ClinVar dbSNP gnomAD v4 |
X | g.25013076C= | CA2420209106 | ARX | c.919G= (p.Gly307=) | |
X | g.25013076C>G | CA412612164 | ARX | c.919G>C (p.Gly307Arg) | |
X | g.25013076C>T | CA412612165 | ARX | c.919G>A (p.Gly307Ser) | gnomAD v4 |
X | g.25013077G>A | CA515947228 | ARX | c.918C>T (p.Asp306=) | |
X | g.25013077G>C | CA412612166 | ARX | c.918C>G (p.Asp306Glu) | |
X | g.25013077G>T | CA412612167 | ARX | c.918C>A (p.Asp306Glu) | |
X | g.25013078T>A | CA412612168 | ARX | c.917A>T (p.Asp306Val) | |
X | g.25013078T>C | CA412612169 | ARX | c.917A>G (p.Asp306Gly) | gnomAD v4 |
X | g.25013078T>G | CA412612170 | ARX | c.917A>C (p.Asp306Ala) | |
X | g.25013079C>A | CA412612171 | ARX | c.916G>T (p.Asp306Tyr) | |
X | g.25013079C>G | CA412612172 | ARX | c.916G>C (p.Asp306His) | |
X | g.25013079C>T | CA412612173 | ARX | c.916G>A (p.Asp306Asn) | |
X | g.25013080C>A | CA412612174 | ARX | c.915G>T (p.Lys305Asn) | |
X | g.25013080C>G | CA412612175 | ARX | c.915G>C (p.Lys305Asn) | |
X | g.25013080C>T | CA515947233 | ARX | c.915G>A (p.Lys305=) | |
X | g.25013081T>A | CA412612178 | ARX | c.914A>T (p.Lys305Met) | |
X | g.25013081T>C | CA412612177 | ARX | c.914A>G (p.Lys305Arg) | |
X | g.25013081T>G | CA412612176 | ARX | c.914A>C (p.Lys305Thr) | |
X | g.25013082T>A | CA412612179 | ARX | c.913A>T (p.Lys305Ter) | |
X | g.25013082T>C | CA412612181 | ARX | c.913A>G (p.Lys305Glu) | gnomAD v4 |
X | g.25013082T>G | CA412612180 | ARX | c.913A>C (p.Lys305Gln) | |
X | g.25013083G>A | CA10373863 | ARX | c.912C>T (p.Gly304=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25013083G>C | CA515947237 | ARX | c.912C>G (p.Gly304=) | |
X | g.25013083G= | CA2420209107 | ARX | c.912C= (p.Gly304=) |