| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
| 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=)
| |
| X | g.25013162G>A | CA412612343 | ARX | c.833C>T (p.Ala278Val)
| gnomAD v4 |
| X | g.25013162G>C | CA10373872 | ARX | c.833C>G (p.Ala278Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013162G= | CA2420209133 | ARX | c.833C= (p.Ala278=)
| |
| X | g.25013162G>T | CA412612344 | ARX | c.833C>A (p.Ala278Asp)
| gnomAD v4 |
| X | g.25013163C>A | CA412612345 | ARX | c.832G>T (p.Ala278Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013163C= | CA2420209134 | ARX | c.832G= (p.Ala278=)
| |
| X | g.25013163C>G | CA412612346 | ARX | c.832G>C (p.Ala278Pro)
| |
| X | g.25013163C>T | CA10373873 | ARX | c.832G>A (p.Ala278Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013164T>A | CA515947477 | ARX | c.831A>T (p.Ala277=)
| |
| X | g.25013164T>C | CA515947481 | ARX | c.831A>G (p.Ala277=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013164T>G | CA515947482 | ARX | c.831A>C (p.Ala277=)
| |
| X | g.25013164T= | CA2420209135 | ARX | c.831A= (p.Ala277=)
| |
| X | g.25013165G>A | CA412612347 | ARX | c.830C>T (p.Ala277Val)
| |
| X | g.25013165G>C | CA412612348 | ARX | c.830C>G (p.Ala277Gly)
| |
| X | g.25013165G>T | CA412612349 | ARX | c.830C>A (p.Ala277Glu)
| |
| X | g.25013166C>A | CA412612350 | ARX | c.829G>T (p.Ala277Ser)
| |
| X | g.25013166C= | CA2420209136 | ARX | c.829G= (p.Ala277=)
| |
| X | g.25013166C>G | CA412612351 | ARX | c.829G>C (p.Ala277Pro)
| |
| X | g.25013166C>T | CA412612352 | ARX | c.829G>A (p.Ala277Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013167T>A | CA515947495 | ARX | c.828A>T (p.Ala276=)
| |
| X | g.25013167T>C | CA515947496 | ARX | c.828A>G (p.Ala276=)
| |
| X | g.25013167T>G | CA515947497 | ARX | c.828A>C (p.Ala276=)
| |
| X | g.25013168del | CA2552618203 | ARX | c.827del (p.Ala276GlufsTer?)
| |
| X | g.25013168G>A | CA412612354 | ARX | c.827C>T (p.Ala276Val)
| |
| X | g.25013168G>C | CA412612355 | ARX | c.827C>G (p.Ala276Gly)
| |
| X | g.25013168G>T | CA412612353 | ARX | c.827C>A (p.Ala276Glu)
| gnomAD v4 |
| X | g.25013176_25013193dup | CA2693353440 | ARX | c.810_827dup (p.Ala276_Ala277insThrGlyAlaValAlaAla)
| gnomAD v4 |
| X | g.25013176_25013193del | CA2592314635 | ARX | c.810_827del (p.Thr271_Ala276del)
| gnomAD v3 gnomAD v4 |
| X | g.25013169C>A | CA412612356 | ARX | c.826G>T (p.Ala276Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013169C= | CA2420209137 | ARX | c.826G= (p.Ala276=)
| |
| X | g.25013169C>G | CA412612357 | ARX | c.826G>C (p.Ala276Pro)
| dbSNP gnomAD v4 |
| X | g.25013169C>T | CA412612358 | ARX | c.826G>A (p.Ala276Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013170G>A | CA16616649 | ARX | c.825C>T (p.Ala275=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013170G>C | CA515947502 | ARX | c.825C>G (p.Ala275=)
| |
| X | g.25013170G= | CA2420209138 | ARX | c.825C= (p.Ala275=)
| |
| X | g.25013170G>T | CA515947505 | ARX | c.825C>A (p.Ala275=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013170_25013171del | CA2530386685 | ARX | c.824_825del (p.Ala275GlyfsTer28)
| |
| X | g.25013171G>A | CA412612359 | ARX | c.824C>T (p.Ala275Val)
| dbSNP gnomAD v4 |
| X | g.25013171G>C | CA412612360 | ARX | c.824C>G (p.Ala275Gly)
| |
| X | g.25013171G>T | CA412612361 | ARX | c.824C>A (p.Ala275Asp)
| gnomAD v4 |
| X | g.25013172C>A | CA412612364 | ARX | c.823G>T (p.Ala275Ser)
| |
| X | g.25013172C>G | CA412612362 | ARX | c.823G>C (p.Ala275Pro)
| |
| X | g.25013172C>T | CA412612363 | ARX | c.823G>A (p.Ala275Thr)
| ClinVar gnomAD v4 |
| X | g.25013173C>A | CA515947510 | ARX | c.822G>T (p.Val274=)
| gnomAD v4 |
| X | g.25013173C= | CA2420209139 | ARX | c.822G= (p.Val274=)
| |
| X | g.25013173C>G | CA515947511 | ARX | c.822G>C (p.Val274=)
| |
| X | g.25013173C>T | CA515947512 | ARX | c.822G>A (p.Val274=)
| ClinVar dbSNP |
| X | g.25013174A= | CA2420209140 | ARX | c.821T= (p.Val274=)
| |
| X | g.25013174A>C | CA412612365 | ARX | c.821T>G (p.Val274Gly)
| |
| X | g.25013174A>G | CA10373874 | ARX | c.821T>C (p.Val274Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013174A>T | CA412612366 | ARX | c.821T>A (p.Val274Glu)
| |
| X | g.25013174dup | CA2580618167 | ARX | c.821dup (p.Ala275GlyfsTer29)
| ClinVar |
| X | g.25013174_25013176del | CA2563881402 | ARX | c.819_821del (p.Val274del)
| |
| X | g.25013175C>A | CA412612367 | ARX | c.820G>T (p.Val274Leu)
| gnomAD v4 |
| X | g.25013175C>G | CA412612368 | ARX | c.820G>C (p.Val274Leu)
| |
| X | g.25013175C>T | CA412612369 | ARX | c.820G>A (p.Val274Met)
| |
| X | g.25013176G>A | CA515947517 | ARX | c.819C>T (p.Ala273=)
| dbSNP |
| X | g.25013176G>C | CA515947521 | ARX | c.819C>G (p.Ala273=)
| |
| X | g.25013176G= | CA2420209141 | ARX | c.819C= (p.Ala273=)
| |
| X | g.25013176G>T | CA515947522 | ARX | c.819C>A (p.Ala273=)
| gnomAD v4 |
| X | g.25013177G>A | CA412612370 | ARX | c.818C>T (p.Ala273Val)
| gnomAD v4 |
| X | g.25013177G>C | CA327733043 | ARX | c.818C>G (p.Ala273Gly)
| dbSNP gnomAD v4 |
| X | g.25013177G= | CA2420209142 | ARX | c.818C= (p.Ala273=)
| |
| X | g.25013177G>T | CA412612371 | ARX | c.818C>A (p.Ala273Asp)
| gnomAD v4 |
| X | g.25013178C>A | CA412612372 | ARX | c.817G>T (p.Ala273Ser)
| gnomAD v4 |
| X | g.25013178C= | CA2420209143 | ARX | c.817G= (p.Ala273=)
| |
| X | g.25013178C>G | CA412612373 | ARX | c.817G>C (p.Ala273Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013178C>T | CA412612374 | ARX | c.817G>A (p.Ala273Thr)
| gnomAD v4 |
| X | g.25013179G>A | CA515947528 | ARX | c.816C>T (p.Gly272=)
| ClinVar gnomAD v4 COSMIC |
| X | g.25013179G>C | CA515947529 | ARX | c.816C>G (p.Gly272=)
| |
| X | g.25013179G>T | CA515947531 | ARX | c.816C>A (p.Gly272=)
| gnomAD v4 |
| X | g.25013180C>A | CA10373875 | ARX | c.815G>T (p.Gly272Val)
| dbSNP ExAC |
| X | g.25013180C= | CA2420209144 | ARX | c.815G= (p.Gly272=)
| |
| X | g.25013180C>G | CA412612375 | ARX | c.815G>C (p.Gly272Ala)
| |
| X | g.25013180C>T | CA412612376 | ARX | c.815G>A (p.Gly272Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013181C>A | CA412612377 | ARX | c.814G>T (p.Gly272Cys)
| gnomAD v4 |
| X | g.25013181C>G | CA412612378 | ARX | c.814G>C (p.Gly272Arg)
| |
| X | g.25013181C>T | CA412612379 | ARX | c.814G>A (p.Gly272Ser)
| gnomAD v4 |
| X | g.25013182A= | CA2420209145 | ARX | c.813T= (p.Thr271=)
| |
| X | g.25013182A>C | CA515947549 | ARX | c.813T>G (p.Thr271=)
| |
| X | g.25013182A>G | CA515947548 | ARX | c.813T>C (p.Thr271=)
| ClinVar dbSNP gnomAD v4 |
| X | g.25013182A>T | CA515947546 | ARX | c.813T>A (p.Thr271=)
| |
| X | g.25013182_25013189del | CA2557346376 | ARX | c.806_813del (p.Ala269GlyfsTer?)
| |
| X | g.25013183G>A | CA412612380 | ARX | c.812C>T (p.Thr271Ile)
| |
| X | g.25013183G>C | CA412612381 | ARX | c.812C>G (p.Thr271Ser)
| |
| X | g.25013183G>T | CA412612382 | ARX | c.812C>A (p.Thr271Asn)
| gnomAD v4 |
| X | g.25013184T>A | CA412612383 | ARX | c.811A>T (p.Thr271Ser)
| |
| X | g.25013184T>C | CA16608823 | ARX | c.811A>G (p.Thr271Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013184T>G | CA412612384 | ARX | c.811A>C (p.Thr271Pro)
| dbSNP |
| X | g.25013184T= | CA2420209146 | ARX | c.811A= (p.Thr271=)
| |
