UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25013061A>C | CA412612127 | ARX | c.934T>G (p.Cys312Gly) | |
| X | g.25013061A>G | CA412612128 | ARX | c.934T>C (p.Cys312Arg) | |
| X | g.25013061A>T | CA412612129 | ARX | c.934T>A (p.Cys312Ser) | |
| X | g.25013062C>A | CA515947207 | ARX | c.933G>T (p.Val311=) | |
| X | g.25013062C>G | CA515947209 | ARX | c.933G>C (p.Val311=) | |
| X | g.25013062C>T | CA515947210 | ARX | c.933G>A (p.Val311=) | |
| X | g.25013063A>C | CA412612130 | ARX | c.932T>G (p.Val311Gly) | |
| X | g.25013063A>G | CA412612131 | ARX | c.932T>C (p.Val311Ala) | |
| X | g.25013063A>T | CA412612132 | ARX | c.932T>A (p.Val311Glu) | |
| X | g.25013064C>A | CA412612133 | ARX | c.931G>T (p.Val311Leu) | gnomAD v4 |
| X | g.25013064C= | CA2420209101 | ARX | c.931G= (p.Val311=) | |
| X | g.25013064C>G | CA412612135 | ARX | c.931G>C (p.Val311Leu) | gnomAD v4 |
| X | g.25013064C>T | CA412612134 | ARX | c.931G>A (p.Val311Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013065G>A | CA515947213 | ARX | c.930C>T (p.Ser310=) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.25013065G>C | CA412612136 | ARX | c.930C>G (p.Ser310Arg) | |
| X | g.25013065G= | CA2420209102 | ARX | c.930C= (p.Ser310=) | |
| X | g.25013065G>T | CA412612137 | ARX | c.930C>A (p.Ser310Arg) | gnomAD v4 |
| X | g.25013066C>A | CA412612138 | ARX | c.929G>T (p.Ser310Ile) | |
| X | g.25013066C>G | CA412612139 | ARX | c.929G>C (p.Ser310Thr) | |
| X | g.25013066C>T | CA412612140 | ARX | c.929G>A (p.Ser310Asn) | |
| X | g.25013067T>A | CA412612141 | ARX | c.928A>T (p.Ser310Cys) | |
| X | g.25013067T>C | CA412612142 | ARX | c.928A>G (p.Ser310Gly) | |
| X | g.25013067T>G | CA412612143 | ARX | c.928A>C (p.Ser310Arg) | |
| X | g.25013068G>A | CA10373861 | ARX | c.927C>T (p.Asp309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013068G>C | CA412612144 | ARX | c.927C>G (p.Asp309Glu) | |
| X | g.25013068G= | CA2420209103 | ARX | c.927C= (p.Asp309=) | |
| X | g.25013068G>T | CA412612145 | ARX | c.927C>A (p.Asp309Glu) | gnomAD v4 |
| 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=) | |
| X | g.25013083G>T | CA515947238 | ARX | c.912C>A (p.Gly304=) | |
| X | g.25013084C>A | CA10373864 | ARX | c.911G>T (p.Gly304Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013084C= | CA2420209108 | ARX | c.911G= (p.Gly304=) | |
| X | g.25013084C>G | CA412612182 | ARX | c.911G>C (p.Gly304Ala) | |
| X | g.25013084C>T | CA412612183 | ARX | c.911G>A (p.Gly304Asp) | |
| X | g.25013085C>A | CA412612184 | ARX | c.910G>T (p.Gly304Cys) | gnomAD v4 |
| X | g.25013085C= | CA2420209109 | ARX | c.910G= (p.Gly304=) | |
| X | g.25013085C>G | CA412612185 | ARX | c.910G>C (p.Gly304Arg) | |
| X | g.25013085C>T | CA10373865 | ARX | c.910G>A (p.Gly304Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013086C>A | CA412612187 | ARX | c.909G>T (p.Glu303Asp) | dbSNP |
| X | g.25013086C= | CA2420209110 | ARX | c.909G= (p.Glu303=) | |
| X | g.25013086C>G | CA412612186 | ARX | c.909G>C (p.Glu303Asp) | |
| X | g.25013086C>T | CA515947247 | ARX | c.909G>A (p.Glu303=) | |
| X | g.25013087T>A | CA412612188 | ARX | c.908A>T (p.Glu303Val) | gnomAD v4 |
| X | g.25013087T>C | CA412612189 | ARX | c.908A>G (p.Glu303Gly) | |
| X | g.25013087T>G | CA412612190 | ARX | c.908A>C (p.Glu303Ala) | |
| X | g.25013088C>A | CA412612191 | ARX | c.907G>T (p.Glu303Ter) | |
| X | g.25013088C>G | CA412612192 | ARX | c.907G>C (p.Glu303Gln) | |
| X | g.25013088C>T | CA412612193 | ARX | c.907G>A (p.Glu303Lys) | |
| X | g.25013089A>C | CA515947253 | ARX | c.906T>G (p.Ala302=) | |
| X | g.25013089A>G | CA515947254 | ARX | c.906T>C (p.Ala302=) | gnomAD v4 |
| X | g.25013089A>T | CA515947255 | ARX | c.906T>A (p.Ala302=) | |
| X | g.25013090G>A | CA412612196 | ARX | c.905C>T (p.Ala302Val) | |
| X | g.25013090G>C | CA412612194 | ARX | c.905C>G (p.Ala302Gly) | |
| X | g.25013090G>T | CA412612195 | ARX | c.905C>A (p.Ala302Asp) | |
| X | g.25013091C>A | CA412612197 | ARX | c.904G>T (p.Ala302Ser) | gnomAD v4 |
| X | g.25013091C= | CA2420209111 | ARX | c.904G= (p.Ala302=) | |
| X | g.25013091C>G | CA412612198 | ARX | c.904G>C (p.Ala302Pro) | ClinVar dbSNP gnomAD v4 |
| X | g.25013091C>T | CA10373866 | ARX | c.904G>A (p.Ala302Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013092G>A | CA515947261 | ARX | c.903C>T (p.Asp301=) | dbSNP |
| X | g.25013092G>C | CA412612199 | ARX | c.903C>G (p.Asp301Glu) | |
| X | g.25013092G= | CA2420209112 | ARX | c.903C= (p.Asp301=) | |
| X | g.25013092G>T | CA412612200 | ARX | c.903C>A (p.Asp301Glu) | |
| X | g.25013093T>A | CA412612201 | ARX | c.902A>T (p.Asp301Val) | |
| X | g.25013093T>C | CA412612202 | ARX | c.902A>G (p.Asp301Gly) | |
| X | g.25013093T>G | CA412612203 | ARX | c.902A>C (p.Asp301Ala) | |
| X | g.25013094C>A | CA412612204 | ARX | c.901G>T (p.Asp301Tyr) | |
| X | g.25013094C>G | CA412612205 | ARX | c.901G>C (p.Asp301His) | |
| X | g.25013094C>T | CA412612206 | ARX | c.901G>A (p.Asp301Asn) | |
| X | g.25013095T>A | CA412612207 | ARX | c.900A>T (p.Glu300Asp) | gnomAD v4 |
| X | g.25013095T>C | CA515947268 | ARX | c.900A>G (p.Glu300=) | |
| X | g.25013095T>G | CA412612208 | ARX | c.900A>C (p.Glu300Asp) | |
| X | g.25013096T>A | CA412612209 | ARX | c.899A>T (p.Glu300Val) | |
| X | g.25013096T>C | CA412612211 | ARX | c.899A>G (p.Glu300Gly) | |
| X | g.25013096T>G | CA412612210 | ARX | c.899A>C (p.Glu300Ala) | ClinVar |
| X | g.25013097C>A | CA412612212 | ARX | c.898G>T (p.Glu300Ter) | gnomAD v4 |
| X | g.25013097C>G | CA412612213 | ARX | c.898G>C (p.Glu300Gln) | |
| X | g.25013097C>T | CA412612214 | ARX | c.898G>A (p.Glu300Lys) | gnomAD v4 |
| X | g.25013098C>A | CA515947275 | ARX | c.897G>T (p.Pro299=) | gnomAD v4 |
| X | g.25013098C>G | CA515947277 | ARX | c.897G>C (p.Pro299=) | |
| X | g.25013098C>T | CA515947278 | ARX | c.897G>A (p.Pro299=) | gnomAD v4 |
| X | g.25013099G>A | CA412612215 | ARX | c.896C>T (p.Pro299Leu) | |
| X | g.25013099G>C | CA412612216 | ARX | c.896C>G (p.Pro299Arg) | |
| X | g.25013099G>T | CA412612217 | ARX | c.896C>A (p.Pro299Gln) | gnomAD v4 |
| X | g.25013100G>A | CA412612220 | ARX | c.895C>T (p.Pro299Ser) | |
| X | g.25013100G>C | CA412612218 | ARX | c.895C>G (p.Pro299Ala) | |
| X | g.25013100G>T | CA412612219 | ARX | c.895C>A (p.Pro299Thr) | gnomAD v4 |
| X | g.25013101G>A | CA515947284 | ARX | c.894C>T (p.His298=) | gnomAD v4 |
| X | g.25013101G>C | CA412612221 | ARX | c.894C>G (p.His298Gln) | |
| X | g.25013101G>T | CA412612222 | ARX | c.894C>A (p.His298Gln) | |
| X | g.25013102T>A | CA412612223 | ARX | c.893A>T (p.His298Leu) | ClinVar |
| X | g.25013102T>C | CA412612224 | ARX | c.893A>G (p.His298Arg) | |
| X | g.25013102T>G | CA412612225 | ARX | c.893A>C (p.His298Pro) | |
| X | g.25013103G>A | CA412612226 | ARX | c.892C>T (p.His298Tyr) | |
| X | g.25013103G>C | CA412612228 | ARX | c.892C>G (p.His298Asp) | |
| X | g.25013103G>T | CA412612227 | ARX | c.892C>A (p.His298Asn) | COSMIC |
| X | g.25013111_25013113dup | CA2580616913 | ARX | c.890_892dup (p.Leu297_His298insLeu) | ClinVar |
| X | g.25013111_25013113del | CA2579576416 | ARX | c.890_892del (p.Leu297del) | |
| X | g.25013104C>A | CA515947294 | ARX | c.891G>T (p.Leu297=) | gnomAD v4 |
| X | g.25013104C= | CA2420209113 | ARX | c.891G= (p.Leu297=) | |
| X | g.25013104C>G | CA515947295 | ARX | c.891G>C (p.Leu297=) | |
| X | g.25013104C>T | CA515947296 | ARX | c.891G>A (p.Leu297=) | dbSNP gnomAD v2 gnomAD v4 |
| 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) | |
| X | g.25013120T>C | CA412612262 | ARX | c.875A>G (p.Lys292Arg) | |
| X | g.25013120T>G | CA412612263 | ARX | c.875A>C (p.Lys292Thr) | gnomAD v4 |
| X | g.25013121T>A | CA412612264 | ARX | c.874A>T (p.Lys292Ter) | |
| X | g.25013121T>C | CA412612265 | ARX | c.874A>G (p.Lys292Glu) | |
| X | g.25013121T>G | CA412612266 | ARX | c.874A>C (p.Lys292Gln) | |
| X | g.25013122G>A | CA515947354 | ARX | c.873C>T (p.Pro291=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013122G>C | CA515947355 | ARX | c.873C>G (p.Pro291=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013122G= | CA2420209115 | ARX | c.873C= (p.Pro291=) | |
| X | g.25013122G>T | CA515947358 | ARX | c.873C>A (p.Pro291=) | gnomAD v4 |
| X | g.25013123G>A | CA412612267 | ARX | c.872C>T (p.Pro291Leu) | |
| X | g.25013123G>C | CA412612268 | ARX | c.872C>G (p.Pro291Arg) | |
| X | g.25013123G>T | CA412612269 | ARX | c.872C>A (p.Pro291His) | |
| X | g.25013124G>A | CA412612270 | ARX | c.871C>T (p.Pro291Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013124G>C | CA412612272 | ARX | c.871C>G (p.Pro291Ala) | |
| X | g.25013124G= | CA2420209116 | ARX | c.871C= (p.Pro291=) | |
| X | g.25013124G>T | CA412612271 | ARX | c.871C>A (p.Pro291Thr) | |
| X | g.25013125T>A | CA515947364 | ARX | c.870A>T (p.Ser290=) | |
| X | g.25013125T>C | CA515947365 | ARX | c.870A>G (p.Ser290=) | |
| X | g.25013125T>G | CA515947367 | ARX | c.870A>C (p.Ser290=) | |
| X | g.25013126G>A | CA412612273 | ARX | c.869C>T (p.Ser290Leu) | |
| X | g.25013126G>C | CA412612274 | ARX | c.869C>G (p.Ser290Ter) | |
| X | g.25013126G>T | CA412612275 | ARX | c.869C>A (p.Ser290Ter) | gnomAD v4 |
| X | g.25013127A>C | CA412612276 | ARX | c.868T>G (p.Ser290Ala) | |
| X | g.25013127A>G | CA412612277 | ARX | c.868T>C (p.Ser290Pro) | |
| X | g.25013127A>T | CA412612278 | ARX | c.868T>A (p.Ser290Thr) | ClinVar |
| X | g.25013128C>A | CA515947372 | ARX | c.867G>T (p.Leu289=) | |
| X | g.25013128C= | CA2420209117 | ARX | c.867G= (p.Leu289=) | |
| X | g.25013128C>G | CA515947373 | ARX | c.867G>C (p.Leu289=) | |
| X | g.25013128C>T | CA515947376 | ARX | c.867G>A (p.Leu289=) | dbSNP gnomAD v4 |
| X | g.25013129A= | CA2420209118 | ARX | c.866T= (p.Leu289=) | |
| X | g.25013129A>C | CA412612279 | ARX | c.866T>G (p.Leu289Arg) | |
| X | g.25013129A>G | CA412612280 | ARX | c.866T>C (p.Leu289Pro) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013129A>T | CA412612281 | ARX | c.866T>A (p.Leu289Gln) | gnomAD v4 |
| X | g.25013130G>A | CA10373868 | ARX | c.865C>T (p.Leu289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013130G>C | CA412612282 | ARX | c.865C>G (p.Leu289Val) | |
| X | g.25013130G= | CA2420209119 | ARX | c.865C= (p.Leu289=) | |
| X | g.25013130G>T | CA412612283 | ARX | c.865C>A (p.Leu289Met) | |
| X | g.25013131C>A | CA412612285 | ARX | c.864G>T (p.Glu288Asp) | |
| X | g.25013131C>G | CA412612284 | ARX | c.864G>C (p.Glu288Asp) | |
| X | g.25013131C>T | CA515947380 | ARX | c.864G>A (p.Glu288=) | gnomAD v4 |
| X | g.25013132T>A | CA412612286 | ARX | c.863A>T (p.Glu288Val) | |
| X | g.25013132T>C | CA412612287 | ARX | c.863A>G (p.Glu288Gly) | |
| X | g.25013132T>G | CA412612288 | ARX | c.863A>C (p.Glu288Ala) | |
| X | g.25013133C>A | CA412612289 | ARX | c.862G>T (p.Glu288Ter) | |
| X | g.25013133C>G | CA412612290 | ARX | c.862G>C (p.Glu288Gln) | |
| X | g.25013133C>T | CA412612291 | ARX | c.862G>A (p.Glu288Lys) | |
| X | g.25013134C>A | CA515947384 | ARX | c.861G>T (p.Gly287=) | |
| X | g.25013134C>G | CA515947385 | ARX | c.861G>C (p.Gly287=) | |
| X | g.25013134C>T | CA515947386 | ARX | c.861G>A (p.Gly287=) | gnomAD v4 |
| X | g.25013135C>A | CA412612292 | ARX | c.860G>T (p.Gly287Val) | |
| X | g.25013135C>G | CA412612293 | ARX | c.860G>C (p.Gly287Ala) | |
| X | g.25013135C>T | CA412612294 | ARX | c.860G>A (p.Gly287Glu) | |
| X | g.25013136C>A | CA412612295 | ARX | c.859G>T (p.Gly287Trp) | gnomAD v4 |
| X | g.25013136C>G | CA412612296 | ARX | c.859G>C (p.Gly287Arg) | dbSNP |
| X | g.25013136C>T | CA412612297 | ARX | c.859G>A (p.Gly287Arg) | ClinVar gnomAD v4 |
| X | g.25013137G>A | CA515947393 | ARX | c.858C>T (p.Gly286=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013137G>C | CA515947394 | ARX | c.858C>G (p.Gly286=) | dbSNP gnomAD v4 |
| X | g.25013137G= | CA2420209120 | ARX | c.858C= (p.Gly286=) | |
| X | g.25013137G>T | CA515947395 | ARX | c.858C>A (p.Gly286=) | |
| X | g.25013138C>A | CA412612299 | ARX | c.857G>T (p.Gly286Val) | |
| X | g.25013138C= | CA2420209121 | ARX | c.857G= (p.Gly286=) | |
| X | g.25013138C>G | CA412612298 | ARX | c.857G>C (p.Gly286Ala) | COSMIC |
| X | g.25013138C>T | CA10373869 | ARX | c.857G>A (p.Gly286Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013139C>A | CA412612300 | ARX | c.856G>T (p.Gly286Cys) | gnomAD v4 |
| X | g.25013139C= | CA2420209122 | ARX | c.856G= (p.Gly286=) | |
| X | g.25013139C>G | CA412612301 | ARX | c.856G>C (p.Gly286Arg) | |
| X | g.25013139C>T | CA213173 | ARX | c.856G>A (p.Gly286Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013140C>A | CA412612302 | ARX | c.855G>T (p.Glu285Asp) | |
| X | g.25013140C= | CA2420209123 | ARX | c.855G= (p.Glu285=) | |
| X | g.25013140C>G | CA412612303 | ARX | c.855G>C (p.Glu285Asp) | |
| X | g.25013140C>T | CA10373870 | ARX | c.855G>A (p.Glu285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013141T>A | CA412612304 | ARX | c.854A>T (p.Glu285Val) | |
| X | g.25013141T>C | CA412612305 | ARX | c.854A>G (p.Glu285Gly) | |
| X | g.25013141T>G | CA412612306 | ARX | c.854A>C (p.Glu285Ala) | |
| X | g.25013142C>A | CA412612307 | ARX | c.853G>T (p.Glu285Ter) | |
| X | g.25013142C>G | CA412612308 | ARX | c.853G>C (p.Glu285Gln) | |
| X | g.25013142C>T | CA412612309 | ARX | c.853G>A (p.Glu285Lys) | |
| X | g.25013143T>A | CA515947409 | ARX | c.852A>T (p.Thr284=) | |
| X | g.25013143T>C | CA515947410 | ARX | c.852A>G (p.Thr284=) | |
| X | g.25013143T>G | CA515947411 | ARX | c.852A>C (p.Thr284=) | |
| X | g.25013143_25013145del | CA2534096011 | ARX | c.850_852del (p.Thr284del) | |
| X | g.25013145_25013146del | CA2579576417 | ARX | c.851_852del (p.Thr284ArgfsTer19) | |
| X | g.25013144G>A | CA412612310 | ARX | c.851C>T (p.Thr284Ile) | gnomAD v4 |
| X | g.25013144G>C | CA412612311 | ARX | c.851C>G (p.Thr284Arg) | |
| X | g.25013144G= | CA2420209124 | ARX | c.851C= (p.Thr284=) | |
| X | g.25013144G>T | CA171164 | ARX | c.851C>A (p.Thr284Lys) | ClinVar dbSNP gnomAD v4 |
| X | g.25013145T>A | CA412612312 | ARX | c.850A>T (p.Thr284Ser) | |
| X | g.25013145T>C | CA412612313 | ARX | c.850A>G (p.Thr284Ala) | |
| X | g.25013145T>G | CA412612314 | ARX | c.850A>C (p.Thr284Pro) | |
| X | g.25013146G>A | CA515947419 | ARX | c.849C>T (p.Ala283=) | gnomAD v4 |
| X | g.25013146G>C | CA515947421 | ARX | c.849C>G (p.Ala283=) | |
| X | g.25013146G>T | CA515947420 | ARX | c.849C>A (p.Ala283=) | |
| X | g.25013147G>A | CA412612315 | ARX | c.848C>T (p.Ala283Val) | |
| X | g.25013147G>C | CA327733041 | ARX | c.848C>G (p.Ala283Gly) | dbSNP gnomAD v4 |
| X | g.25013147G= | CA2420209125 | ARX | c.848C= (p.Ala283=) | |
| X | g.25013147G>T | CA412612316 | ARX | c.848C>A (p.Ala283Asp) | gnomAD v4 |
| X | g.25013148C>A | CA10373871 | ARX | c.847G>T (p.Ala283Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013148C= | CA2420209126 | ARX | c.847G= (p.Ala283=) | |
| X | g.25013148C>G | CA412612317 | ARX | c.847G>C (p.Ala283Pro) | |
| X | g.25013148C>T | CA412612318 | ARX | c.847G>A (p.Ala283Thr) | |
| X | g.25013149C>A | CA515947435 | ARX | c.846G>T (p.Val282=) | |
| X | g.25013149C>G | CA515947436 | ARX | c.846G>C (p.Val282=) | |
| X | g.25013149C>T | CA515947437 | ARX | c.846G>A (p.Val282=) | gnomAD v4 |
| X | g.25013150A= | CA2420209127 | ARX | c.845T= (p.Val282=) | |
| X | g.25013150A>C | CA412612319 | ARX | c.845T>G (p.Val282Gly) | |
| X | g.25013150A>G | CA412612320 | ARX | c.845T>C (p.Val282Ala) | |
| X | g.25013150A>T | CA412612321 | ARX | c.845T>A (p.Val282Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.25013151C>A | CA412612322 | ARX | c.844G>T (p.Val282Leu) | |
| X | g.25013151C>G | CA412612323 | ARX | c.844G>C (p.Val282Leu) | |
| X | g.25013151C>T | CA412612324 | ARX | c.844G>A (p.Val282Met) | gnomAD v4 |
| X | g.25013152T>A | CA515947444 | ARX | c.843A>T (p.Ala281=) | |
| X | g.25013152T>C | CA515947447 | ARX | c.843A>G (p.Ala281=) | gnomAD v4 |
| X | g.25013152T>G | CA515947446 | ARX | c.843A>C (p.Ala281=) | |
| X | g.25013152_25013156del | CA2511077634 | ARX | c.839_843del (p.Ala280GlyfsTer22) | |
| X | g.25013153G>A | CA412612327 | ARX | c.842C>T (p.Ala281Val) | |
| X | g.25013153G>C | CA412612326 | ARX | c.842C>G (p.Ala281Gly) | |
| X | g.25013153G>T | CA412612325 | ARX | c.842C>A (p.Ala281Glu) | |
| X | g.25013154C>A | CA412612328 | ARX | c.841G>T (p.Ala281Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013154C= | CA2420209128 | ARX | c.841G= (p.Ala281=) | |
| X | g.25013154C>G | CA412612329 | ARX | c.841G>C (p.Ala281Pro) | |
| X | g.25013154C>T | CA412612330 | ARX | c.841G>A (p.Ala281Thr) | gnomAD v4 |
| X | g.25013155A= | CA2420209129 | ARX | c.840T= (p.Ala280=) | |
| X | g.25013155A>C | CA515947448 | ARX | c.840T>G (p.Ala280=) | |
| X | g.25013155A>G | CA327733042 | ARX | c.840T>C (p.Ala280=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013155A>T | CA515947449 | ARX | c.840T>A (p.Ala280=) | |
| X | g.25013156G>A | CA412612331 | ARX | c.839C>T (p.Ala280Val) | |
| X | g.25013156G>C | CA412612332 | ARX | c.839C>G (p.Ala280Gly) | |
| X | g.25013156G>T | CA412612333 | ARX | c.839C>A (p.Ala280Asp) | gnomAD v4 |
| X | g.25013161_25013190del | CA2693353413 | ARX | c.810_839del (p.Thr271_Ala280del) | gnomAD v4 |
| X | g.25013157C>A | CA412612334 | ARX | c.838G>T (p.Ala280Ser) | |
| X | g.25013157C>G | CA412612335 | ARX | c.838G>C (p.Ala280Pro) | ClinVar |
| X | g.25013157C>T | CA412612336 | ARX | c.838G>A (p.Ala280Thr) | gnomAD v4 |
| X | g.25013158G>A | CA515947455 | ARX | c.837C>T (p.Ala279=) | gnomAD v4 |
| X | g.25013158G>C | CA515947456 | ARX | c.837C>G (p.Ala279=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013158G= | CA2420209130 | ARX | c.837C= (p.Ala279=) | |
| X | g.25013158G>T | CA515947457 | ARX | c.837C>A (p.Ala279=) | gnomAD v4 |
| X | g.25013159del | CA2693353419 | ARX | c.837del (p.Ala280LeufsTer?) | gnomAD v4 |
| X | g.25013159G>A | CA412612337 | ARX | c.836C>T (p.Ala279Val) | dbSNP |
| X | g.25013159G>C | CA412612338 | ARX | c.836C>G (p.Ala279Gly) | |
| X | g.25013159G= | CA2420209131 | ARX | c.836C= (p.Ala279=) | |
| X | g.25013159G>T | CA412612339 | ARX | c.836C>A (p.Ala279Asp) | gnomAD v4 |
| X | g.25013160C>A | CA412612342 | ARX | c.835G>T (p.Ala279Ser) | |
| X | g.25013160C= | CA2420209132 | ARX | c.835G= (p.Ala279=) | |
| X | g.25013160C>G | CA412612340 | ARX | c.835G>C (p.Ala279Pro) | |
| X | g.25013160C>T | CA412612341 | ARX | c.835G>A (p.Ala279Thr) | dbSNP gnomAD v4 |
| X | g.25013161del | CA2567750983 | ARX | c.834del (p.Ala279ProfsTer?) | |
| X | g.25013161A>C | CA515947465 | ARX | c.834T>G (p.Ala278=) | gnomAD v4 |
| X | g.25013161A>G | CA515947463 | ARX | c.834T>C (p.Ala278=) | |
| X | g.25013161A>T | CA515947464 | ARX | c.834T>A (p.Ala278=) |