X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del
| ClinVar |
X | g.25013538_25013619del | CA2580100527 | ARX | c.378_459del (p.Pro127ArgfsTer14)
| ClinVar |
X | g.25013547_25013607del | CA2695232872 | ARX | c.392_452del (p.Pro131ArgfsTer17)
| |
X | g.25013585T>A | CA412613239 | ARX | c.410A>T (p.Glu137Val)
| |
X | g.25013585T>C | CA412613240 | ARX | c.410A>G (p.Glu137Gly)
| |
X | g.25013585T>G | CA412613241 | ARX | c.410A>C (p.Glu137Ala)
| |
X | g.25013585T= | CA2420209341 | ARX | c.410A= (p.Glu137=)
| |
X | g.25013586C>A | CA412613242 | ARX | c.409G>T (p.Glu137Ter)
| gnomAD v4 |
X | g.25013586C= | CA2420209342 | ARX | c.409G= (p.Glu137=)
| |
X | g.25013586C>G | CA412613243 | ARX | c.409G>C (p.Glu137Gln)
| |
X | g.25013586C>T | CA16608412 | ARX | c.409G>A (p.Glu137Lys)
| ClinVar dbSNP |
X | g.25013589dup | CA213328 | ARX | c.409dup (p.Glu137GlyfsTer?)
| ClinVar dbSNP |
X | g.25013589del | CA2740092071 | ARX | c.409del (p.Glu137AsnfsTer?)
| ClinVar |
X | g.25013587C>A | CA515947786 | ARX | c.408G>T (p.Gly136=)
| |
X | g.25013587C>G | CA515947788 | ARX | c.408G>C (p.Gly136=)
| gnomAD v4 |
X | g.25013587C>T | CA515947790 | ARX | c.408G>A (p.Gly136=)
| gnomAD v4 |
X | g.25013588C>A | CA412613245 | ARX | c.407G>T (p.Gly136Val)
| |
X | g.25013588C>G | CA412613244 | ARX | c.407G>C (p.Gly136Ala)
| |
X | g.25013588C>T | CA412613246 | ARX | c.407G>A (p.Gly136Glu)
| |
X | g.25013589C>A | CA412613247 | ARX | c.406G>T (p.Gly136Trp)
| gnomAD v4 |
X | g.25013589C>G | CA412613248 | ARX | c.406G>C (p.Gly136Arg)
| gnomAD v4 |
X | g.25013589C>T | CA412613249 | ARX | c.406G>A (p.Gly136Arg)
| ClinVar dbSNP gnomAD v4 |
X | g.25013590G>A | CA515947793 | ARX | c.405C>T (p.Pro135=)
| gnomAD v4 |
X | g.25013590G>C | CA515947791 | ARX | c.405C>G (p.Pro135=)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013590G= | CA2420209343 | ARX | c.405C= (p.Pro135=)
| |
X | g.25013590G>T | CA515947792 | ARX | c.405C>A (p.Pro135=)
| |
X | g.25013591G>A | CA412613250 | ARX | c.404C>T (p.Pro135Leu)
| ClinVar dbSNP |
X | g.25013591G>C | CA412613251 | ARX | c.404C>G (p.Pro135Arg)
| |
X | g.25013591G= | CA2420209344 | ARX | c.404C= (p.Pro135=)
| |
X | g.25013591G>T | CA412613252 | ARX | c.404C>A (p.Pro135His)
| |
X | g.25013592G>A | CA412613253 | ARX | c.403C>T (p.Pro135Ser)
| gnomAD v4 |
X | g.25013592G>C | CA412613254 | ARX | c.403C>G (p.Pro135Ala)
| |
X | g.25013592G>T | CA412613255 | ARX | c.403C>A (p.Pro135Thr)
| |
X | g.25013593C>A | CA515947796 | ARX | c.402G>T (p.Arg134=)
| |
X | g.25013593C>G | CA515947797 | ARX | c.402G>C (p.Arg134=)
| |
X | g.25013593C>T | CA515947799 | ARX | c.402G>A (p.Arg134=)
| |
X | g.25013594C>A | CA412613256 | ARX | c.401G>T (p.Arg134Leu)
| |
X | g.25013594C= | CA2420209345 | ARX | c.401G= (p.Arg134=)
| |
X | g.25013594C>G | CA412613257 | ARX | c.401G>C (p.Arg134Pro)
| |
X | g.25013594C>T | CA412613258 | ARX | c.401G>A (p.Arg134Gln)
| dbSNP gnomAD v4 |
X | g.25013595G>A | CA412613260 | ARX | c.400C>T (p.Arg134Trp)
| gnomAD v4 |
X | g.25013595G>C | CA412613259 | ARX | c.400C>G (p.Arg134Gly)
| |
X | g.25013595G>T | CA515947803 | ARX | c.400C>A (p.Arg134=)
| |
X | g.25013596C>A | CA515947804 | ARX | c.399G>T (p.Ala133=)
| |
X | g.25013596C>G | CA515947805 | ARX | c.399G>C (p.Ala133=)
| |
X | g.25013596C>T | CA515947807 | ARX | c.399G>A (p.Ala133=)
| ClinVar dbSNP |
X | g.25013597G>A | CA412613261 | ARX | c.398C>T (p.Ala133Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013597G>C | CA412613262 | ARX | c.398C>G (p.Ala133Gly)
| |
X | g.25013597G= | CA2420209346 | ARX | c.398C= (p.Ala133=)
| |
X | g.25013597G>T | CA412613263 | ARX | c.398C>A (p.Ala133Glu)
| dbSNP |
X | g.25013598C>A | CA412613264 | ARX | c.397G>T (p.Ala133Ser)
| |
X | g.25013598C>G | CA412613265 | ARX | c.397G>C (p.Ala133Pro)
| |
X | g.25013598C>T | CA412613266 | ARX | c.397G>A (p.Ala133Thr)
| gnomAD v4 |
X | g.25013598_25013599insTCAAGATC | CA2820100857 | ARX | c.397_398insATCTTGAG (p.Ala133AspfsTer?)
| |
X | g.25013599G>A | CA515947813 | ARX | c.396C>T (p.Thr132=)
| |
X | g.25013599G>C | CA515947814 | ARX | c.396C>G (p.Thr132=)
| |
X | g.25013599G>T | CA515947816 | ARX | c.396C>A (p.Thr132=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013600G>A | CA412613267 | ARX | c.395C>T (p.Thr132Ile)
| ClinVar dbSNP |
X | g.25013600G>C | CA412613268 | ARX | c.395C>G (p.Thr132Ser)
| |
X | g.25013600G= | CA2420209347 | ARX | c.395C= (p.Thr132=)
| |
X | g.25013600G>T | CA412613269 | ARX | c.395C>A (p.Thr132Asn)
| |
X | g.25013601T>A | CA412613270 | ARX | c.394A>T (p.Thr132Ser)
| |
X | g.25013601T>C | CA412613271 | ARX | c.394A>G (p.Thr132Ala)
| |
X | g.25013601T>G | CA412613272 | ARX | c.394A>C (p.Thr132Pro)
| |
X | g.25013602T>A | CA515947818 | ARX | c.393A>T (p.Pro131=)
| |
X | g.25013602T>C | CA515947819 | ARX | c.393A>G (p.Pro131=)
| gnomAD v4 |
X | g.25013602T>G | CA515947820 | ARX | c.393A>C (p.Pro131=)
| |
X | g.25013603G>A | CA412613275 | ARX | c.392C>T (p.Pro131Leu)
| |
X | g.25013603G>C | CA412613274 | ARX | c.392C>G (p.Pro131Arg)
| |
X | g.25013603G>T | CA412613273 | ARX | c.392C>A (p.Pro131Gln)
| |
X | g.25013604G>A | CA412613276 | ARX | c.391C>T (p.Pro131Ser)
| |
X | g.25013604G>C | CA412613277 | ARX | c.391C>G (p.Pro131Ala)
| |
X | g.25013604G>T | CA412613278 | ARX | c.391C>A (p.Pro131Thr)
| |
X | g.25013606_25013640del | CA2580100528 | ARX | c.357_391del (p.Gly120AsnfsTer?)
| ClinVar |
X | g.25013605C>A | CA515947826 | ARX | c.390G>T (p.Pro130=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013605C>G | CA515947827 | ARX | c.390G>C (p.Pro130=)
| |
X | g.25013605C>T | CA515947830 | ARX | c.390G>A (p.Pro130=)
| gnomAD v4 |
X | g.25013606G>A | CA412613279 | ARX | c.389C>T (p.Pro130Leu)
| ClinVar dbSNP gnomAD v4 |
X | g.25013606G>C | CA412613280 | ARX | c.389C>G (p.Pro130Arg)
| |
X | g.25013606G= | CA2420209348 | ARX | c.389C= (p.Pro130=)
| |
X | g.25013606G>T | CA16621351 | ARX | c.389C>A (p.Pro130Gln)
| ClinVar dbSNP gnomAD v4 |
X | g.25013607G>A | CA412613281 | ARX | c.388C>T (p.Pro130Ser)
| gnomAD v4 |
X | g.25013607G>C | CA412613282 | ARX | c.388C>G (p.Pro130Ala)
| |
X | g.25013607G>T | CA412613283 | ARX | c.388C>A (p.Pro130Thr)
| ClinVar gnomAD v4 |
X | g.25013608T>A | CA515947836 | ARX | c.387A>T (p.Pro129=)
| |
X | g.25013608T>C | CA515947840 | ARX | c.387A>G (p.Pro129=)
| |
X | g.25013608T>G | CA515947838 | ARX | c.387A>C (p.Pro129=)
| ClinVar dbSNP |
X | g.25013608T= | CA2420209349 | ARX | c.387A= (p.Pro129=)
| |
X | g.25013609G>A | CA412613284 | ARX | c.386C>T (p.Pro129Leu)
| gnomAD v4 |
X | g.25013609G>C | CA412613285 | ARX | c.386C>G (p.Pro129Arg)
| |
X | g.25013609G>T | CA412613286 | ARX | c.386C>A (p.Pro129Gln)
| |
X | g.25013611_25013616dup | CA2693353731 | ARX | c.381_386dup (p.Pro129_Pro130insProPro)
| gnomAD v4 |
X | g.25013614_25013616del | CA2579576421 | ARX | c.384_386del (p.Pro129del)
| |
X | g.25013610G>A | CA412613289 | ARX | c.385C>T (p.Pro129Ser)
| |
X | g.25013610G>C | CA412613287 | ARX | c.385C>G (p.Pro129Ala)
| |
X | g.25013610G>T | CA412613288 | ARX | c.385C>A (p.Pro129Thr)
| gnomAD v4 |
X | g.25013611C>A | CA515947847 | ARX | c.384G>T (p.Pro128=)
| |
X | g.25013611C>G | CA515947848 | ARX | c.384G>C (p.Pro128=)
| |
X | g.25013611C>T | CA515947849 | ARX | c.384G>A (p.Pro128=)
| gnomAD v4 |
X | g.25013612G>A | CA412613290 | ARX | c.383C>T (p.Pro128Leu)
| dbSNP |
X | g.25013612G>C | CA412613291 | ARX | c.383C>G (p.Pro128Arg)
| |
X | g.25013612G= | CA2420209350 | ARX | c.383C= (p.Pro128=)
| |
X | g.25013612G>T | CA412613292 | ARX | c.383C>A (p.Pro128Gln)
| |
X | g.25013613G>A | CA412613293 | ARX | c.382C>T (p.Pro128Ser)
| gnomAD v4 |
X | g.25013613G>C | CA412613294 | ARX | c.382C>G (p.Pro128Ala)
| |
X | g.25013613G>T | CA412613295 | ARX | c.382C>A (p.Pro128Thr)
| |
X | g.25013614C>A | CA515947856 | ARX | c.381G>T (p.Pro127=)
| |
X | g.25013614C>G | CA515947857 | ARX | c.381G>C (p.Pro127=)
| |
X | g.25013614C>T | CA515947858 | ARX | c.381G>A (p.Pro127=)
| gnomAD v4 |
X | g.25013615G>A | CA412613296 | ARX | c.380C>T (p.Pro127Leu)
| |
X | g.25013615G>C | CA412613297 | ARX | c.380C>G (p.Pro127Arg)
| |
X | g.25013615G>T | CA412613298 | ARX | c.380C>A (p.Pro127Gln)
| gnomAD v4 |
X | g.25013616G>A | CA412613299 | ARX | c.379C>T (p.Pro127Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013616G>C | CA412613300 | ARX | c.379C>G (p.Pro127Ala)
| |
X | g.25013616G= | CA2420209351 | ARX | c.379C= (p.Pro127=)
| |
X | g.25013616G>T | CA412613301 | ARX | c.379C>A (p.Pro127Thr)
| |
X | g.25013617A>C | CA515947870 | ARX | c.378T>G (p.Pro126=)
| |
X | g.25013617A>G | CA515947869 | ARX | c.378T>C (p.Pro126=)
| |
X | g.25013617A>T | CA515947868 | ARX | c.378T>A (p.Pro126=)
| |
X | g.25013618G>A | CA412613303 | ARX | c.377C>T (p.Pro126Leu)
| gnomAD v4 |
X | g.25013618G>C | CA412613304 | ARX | c.377C>G (p.Pro126Arg)
| |
X | g.25013618G>T | CA412613302 | ARX | c.377C>A (p.Pro126His)
| |
X | g.25013619G>A | CA412613305 | ARX | c.376C>T (p.Pro126Ser)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013619G>C | CA412613306 | ARX | c.376C>G (p.Pro126Ala)
| |
X | g.25013619G= | CA2420209352 | ARX | c.376C= (p.Pro126=)
| |
X | g.25013619G>T | CA412613307 | ARX | c.376C>A (p.Pro126Thr)
| ClinVar |
X | g.25013620G>A | CA515947874 | ARX | c.375C>T (p.Ala125=)
| |
X | g.25013620G>C | CA515947875 | ARX | c.375C>G (p.Ala125=)
| dbSNP gnomAD v4 |
X | g.25013620G= | CA2420209353 | ARX | c.375C= (p.Ala125=)
| |
X | g.25013620G>T | CA515947877 | ARX | c.375C>A (p.Ala125=)
| gnomAD v4 |
X | g.25013621G>A | CA412613308 | ARX | c.374C>T (p.Ala125Val)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013621G>C | CA412613309 | ARX | c.374C>G (p.Ala125Gly)
| |
X | g.25013621G= | CA2420209354 | ARX | c.374C= (p.Ala125=)
| |
X | g.25013621G>T | CA412613310 | ARX | c.374C>A (p.Ala125Asp)
| |
X | g.25013622C>A | CA412613313 | ARX | c.373G>T (p.Ala125Ser)
| |
X | g.25013622C= | CA2420209355 | ARX | c.373G= (p.Ala125=)
| |
X | g.25013622C>G | CA412613311 | ARX | c.373G>C (p.Ala125Pro)
| |
X | g.25013622C>T | CA412613312 | ARX | c.373G>A (p.Ala125Thr)
| ClinVar dbSNP gnomAD v4 |
X | g.25013623del | CA2579576422 | ARX | c.373del (p.Ala125ProfsTer?)
| |
X | g.25013623C>A | CA412613314 | ARX | c.372G>T (p.Glu124Asp)
| |
X | g.25013623C= | CA2420209356 | ARX | c.372G= (p.Glu124=)
| |
X | g.25013623C>G | CA412613315 | ARX | c.372G>C (p.Glu124Asp)
| |
X | g.25013623C>T | CA327733057 | ARX | c.372G>A (p.Glu124=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013624T>A | CA412613316 | ARX | c.371A>T (p.Glu124Val)
| dbSNP |
X | g.25013624T>C | CA412613317 | ARX | c.371A>G (p.Glu124Gly)
| gnomAD v4 |
X | g.25013624T>G | CA412613318 | ARX | c.371A>C (p.Glu124Ala)
| |
X | g.25013624T= | CA2420209357 | ARX | c.371A= (p.Glu124=)
| |
X | g.25013625C>A | CA412613321 | ARX | c.370G>T (p.Glu124Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.25013625C>G | CA412613319 | ARX | c.370G>C (p.Glu124Gln)
| |
X | g.25013625C>T | CA412613320 | ARX | c.370G>A (p.Glu124Lys)
| gnomAD v4 |
X | g.25013627_25013674del | CA2693353732 | ARX | c.323_370del (p.Ala108_Gly123del)
| gnomAD v4 |
X | g.25013626C>A | CA515947891 | ARX | c.369G>T (p.Gly123=)
| |
X | g.25013626C>G | CA515947892 | ARX | c.369G>C (p.Gly123=)
| |
X | g.25013626C>T | CA515947893 | ARX | c.369G>A (p.Gly123=)
| |
X | g.25013626_25013660delinsCCCGCGTGGACCCGCCGTGGCCGTGGCGGCCGCTG | CA2420209358 | ARX | c.335_369delinsCAGCGGCCGCCACGGCCACGGCGGGTCCACGCGGG (p.Ala112=)
| |
X | g.25013627C>A | CA412613322 | ARX | c.368G>T (p.Gly123Val)
| ClinVar dbSNP |
X | g.25013627C= | CA2420209359 | ARX | c.368G= (p.Gly123=)
| |
X | g.25013627C>G | CA412613323 | ARX | c.368G>C (p.Gly123Ala)
| |
X | g.25013627C>T | CA412613324 | ARX | c.368G>A (p.Gly123Glu)
| |
X | g.25013631_25013664del | CA213236 | ARX | c.335_368del (p.Ala112GlyfsTer?)
| ClinVar dbSNP |
X | g.25013628C>A | CA412613325 | ARX | c.367G>T (p.Gly123Trp)
| |
X | g.25013628C= | CA2420209360 | ARX | c.367G= (p.Gly123=)
| |
X | g.25013628C>G | CA412613326 | ARX | c.367G>C (p.Gly123Arg)
| dbSNP gnomAD v4 |
X | g.25013628C>T | CA412613327 | ARX | c.367G>A (p.Gly123Arg)
| ClinVar gnomAD v4 |
X | g.25013630_25013631del | CA2579576423 | ARX | c.366_367del (p.Glu124GlyfsTer?)
| |
X | g.25013629G>A | CA515947901 | ARX | c.366C>T (p.Arg122=)
| |
X | g.25013629G>C | CA515947903 | ARX | c.366C>G (p.Arg122=)
| |
X | g.25013629G>T | CA515947904 | ARX | c.366C>A (p.Arg122=)
| gnomAD v4 |
X | g.25013630C>A | CA412613328 | ARX | c.365G>T (p.Arg122Leu)
| dbSNP |
X | g.25013630C= | CA2420209361 | ARX | c.365G= (p.Arg122=)
| |
X | g.25013630C>G | CA412613329 | ARX | c.365G>C (p.Arg122Pro)
| |
X | g.25013630C>T | CA412613330 | ARX | c.365G>A (p.Arg122His)
| ClinVar dbSNP gnomAD v4 |
X | g.25013631G>A | CA412613331 | ARX | c.364C>T (p.Arg122Cys)
| gnomAD v4 |
X | g.25013631G>C | CA412613332 | ARX | c.364C>G (p.Arg122Gly)
| |
X | g.25013631G>T | CA412613333 | ARX | c.364C>A (p.Arg122Ser)
| gnomAD v4 |
X | g.25013632T>A | CA515947913 | ARX | c.363A>T (p.Pro121=)
| |
X | g.25013632T>C | CA515947911 | ARX | c.363A>G (p.Pro121=)
| ClinVar |
X | g.25013632T>G | CA515947910 | ARX | c.363A>C (p.Pro121=)
| |
X | g.25013633G>A | CA412613334 | ARX | c.362C>T (p.Pro121Leu)
| |
X | g.25013633G>C | CA412613336 | ARX | c.362C>G (p.Pro121Arg)
| gnomAD v4 |
X | g.25013633G>T | CA412613335 | ARX | c.362C>A (p.Pro121Gln)
| gnomAD v4 |
X | g.25013634G>A | CA412613337 | ARX | c.361C>T (p.Pro121Ser)
| |
X | g.25013634G>C | CA412613338 | ARX | c.361C>G (p.Pro121Ala)
| |
X | g.25013634G= | CA2420209362 | ARX | c.361C= (p.Pro121=)
| |
X | g.25013634G>T | CA412613339 | ARX | c.361C>A (p.Pro121Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013635A>C | CA515947920 | ARX | c.360T>G (p.Gly120=)
| |
X | g.25013635A>G | CA515947921 | ARX | c.360T>C (p.Gly120=)
| gnomAD v4 |
X | g.25013635A>T | CA515947922 | ARX | c.360T>A (p.Gly120=)
| |
X | g.25013636C>A | CA412613340 | ARX | c.359G>T (p.Gly120Val)
| gnomAD v4 |
X | g.25013636C= | CA2420209363 | ARX | c.359G= (p.Gly120=)
| |
X | g.25013636C>G | CA412613341 | ARX | c.359G>C (p.Gly120Ala)
| |
X | g.25013636C>T | CA412613342 | ARX | c.359G>A (p.Gly120Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013637C>A | CA412613343 | ARX | c.358G>T (p.Gly120Cys)
| |
X | g.25013637C>G | CA412613344 | ARX | c.358G>C (p.Gly120Arg)
| |
X | g.25013637C>T | CA412613345 | ARX | c.358G>A (p.Gly120Ser)
| |
X | g.25013638C>A | CA515947925 | ARX | c.357G>T (p.Ala119=)
| |
X | g.25013638C= | CA2420209364 | ARX | c.357G= (p.Ala119=)
| |
X | g.25013638C>G | CA515947926 | ARX | c.357G>C (p.Ala119=)
| |
X | g.25013638C>T | CA515947928 | ARX | c.357G>A (p.Ala119=)
| dbSNP gnomAD v4 |
X | g.25013639G>A | CA412613346 | ARX | c.356C>T (p.Ala119Val)
| gnomAD v4 |
X | g.25013639G>C | CA412613347 | ARX | c.356C>G (p.Ala119Gly)
| |
X | g.25013639G>T | CA412613348 | ARX | c.356C>A (p.Ala119Glu)
| gnomAD v4 |
X | g.25013647_25013652dup | CA2420209365 | ARX | c.351_356dup (p.Ala119_Gly120insThrAla)
| ClinVar dbSNP |
X | g.25013643_25013657dup | CA874147875 | ARX | c.342_356dup (p.Ala119_Gly120insAlaThrAlaThrAla)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013640C>A | CA412613351 | ARX | c.355G>T (p.Ala119Ser)
| |
X | g.25013640C>G | CA412613350 | ARX | c.355G>C (p.Ala119Pro)
| |
X | g.25013640C>T | CA412613349 | ARX | c.355G>A (p.Ala119Thr)
| gnomAD v4 |
X | g.25013641C>A | CA515947933 | ARX | c.354G>T (p.Thr118=)
| gnomAD v4 |
X | g.25013641C= | CA2420209366 | ARX | c.354G= (p.Thr118=)
| |
X | g.25013641C>G | CA515947934 | ARX | c.354G>C (p.Thr118=)
| |
X | g.25013641C>T | CA327733058 | ARX | c.354G>A (p.Thr118=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013642G>A | CA412613352 | ARX | c.353C>T (p.Thr118Met)
| gnomAD v4 |
X | g.25013642G>C | CA412613353 | ARX | c.353C>G (p.Thr118Arg)
| |
X | g.25013642G>T | CA412613354 | ARX | c.353C>A (p.Thr118Lys)
| gnomAD v4 |
X | g.25013643T>A | CA412613355 | ARX | c.352A>T (p.Thr118Ser)
| |
X | g.25013643T>C | CA412613356 | ARX | c.352A>G (p.Thr118Ala)
| |
X | g.25013643T>G | CA412613357 | ARX | c.352A>C (p.Thr118Pro)
| |
X | g.25013644G>A | CA515947937 | ARX | c.351C>T (p.Ala117=)
| gnomAD v4 |
X | g.25013644G>C | CA515947938 | ARX | c.351C>G (p.Ala117=)
| |
X | g.25013644G= | CA2420209367 | ARX | c.351C= (p.Ala117=)
| |
X | g.25013644G>T | CA515947939 | ARX | c.351C>A (p.Ala117=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013645G>A | CA412613358 | ARX | c.350C>T (p.Ala117Val)
| gnomAD v4 |
X | g.25013645G>C | CA412613359 | ARX | c.350C>G (p.Ala117Gly)
| |
X | g.25013645G>T | CA412613360 | ARX | c.350C>A (p.Ala117Asp)
| gnomAD v4 |
X | g.25013646C>A | CA412613361 | ARX | c.349G>T (p.Ala117Ser)
| |
X | g.25013646C= | CA2420209368 | ARX | c.349G= (p.Ala117=)
| |
X | g.25013646C>G | CA412613362 | ARX | c.349G>C (p.Ala117Pro)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013646C>T | CA412613363 | ARX | c.349G>A (p.Ala117Thr)
| gnomAD v4 |
X | g.25013647C>A | CA515947952 | ARX | c.348G>T (p.Thr116=)
| |
X | g.25013647C= | CA2420209369 | ARX | c.348G= (p.Thr116=)
| |
X | g.25013647C>G | CA515947954 | ARX | c.348G>C (p.Thr116=)
| |
X | g.25013647C>T | CA515947955 | ARX | c.348G>A (p.Thr116=)
| ClinVar dbSNP |
X | g.25013648G>A | CA412613366 | ARX | c.347C>T (p.Thr116Met)
| ClinVar gnomAD v4 |
X | g.25013648G>C | CA412613365 | ARX | c.347C>G (p.Thr116Arg)
| |
X | g.25013648G= | CA2420209370 | ARX | c.347C= (p.Thr116=)
| |
X | g.25013648G>T | CA412613364 | ARX | c.347C>A (p.Thr116Lys)
| dbSNP |
X | g.25013649T>A | CA412613367 | ARX | c.346A>T (p.Thr116Ser)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013649T>C | CA412613369 | ARX | c.346A>G (p.Thr116Ala)
| ClinVar dbSNP gnomAD v4 |
X | g.25013649T>G | CA412613368 | ARX | c.346A>C (p.Thr116Pro)
| dbSNP |
X | g.25013649T= | CA2420209371 | ARX | c.346A= (p.Thr116=)
| |
X | g.25013649_25013650delinsCC | CA2573158502 | ARX | c.345_346delinsGG (p.Thr116Ala)
| ClinVar dbSNP |
X | g.25013650G>A | CA515947961 | ARX | c.345C>T (p.Ala115=)
| gnomAD v4 |
X | g.25013650G>C | CA515947962 | ARX | c.345C>G (p.Ala115=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013650G>T | CA515947963 | ARX | c.345C>A (p.Ala115=)
| |
X | g.25013650_25013691dup | CA16621352 | ARX | c.304_345dup (p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013651G>A | CA412613370 | ARX | c.344C>T (p.Ala115Val)
| gnomAD v4 |
X | g.25013651G>C | CA412613372 | ARX | c.344C>G (p.Ala115Gly)
| |
X | g.25013651G>T | CA412613371 | ARX | c.344C>A (p.Ala115Asp)
| |
X | g.25013652C>A | CA412613373 | ARX | c.343G>T (p.Ala115Ser)
| gnomAD v4 |
X | g.25013652C>G | CA412613375 | ARX | c.343G>C (p.Ala115Pro)
| |
X | g.25013652C>T | CA412613374 | ARX | c.343G>A (p.Ala115Thr)
| gnomAD v4 |
X | g.25013653G>A | CA515947967 | ARX | c.342C>T (p.Ala114=)
| gnomAD v4 |
X | g.25013653G>C | CA515947971 | ARX | c.342C>G (p.Ala114=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013653G= | CA2420209376 | ARX | c.342C= (p.Ala114=)
| |
X | g.25013653G>T | CA515947973 | ARX | c.342C>A (p.Ala114=)
| |
X | g.25013653_25013659delinsGGCCGCT | CA2420209377 | ARX | c.336_342delinsAGCGGCC (p.Ala112=)
| |
X | g.25013653_25013662delinsGGCCGCTGCC | CA2420209373 | ARX | c.333_342delinsGGCAGCGGCC (p.Ala111=)
| |
X | g.25013653_25013665delinsGGCCGCTGCCGCC | CA2420209374 | ARX | c.330_342delinsGGCGGCAGCGGCC (p.Ala110=)
| |
X | g.25013653_25013674delinsGGCCGCTGCCGCCGCCGCCGCC | CA2420209372 | ARX | c.321_342delinsGGCGGCGGCGGCGGCAGCGGCC (p.Ala107=)
| |
X | g.25013653_25013680delinsGGCCGCTGCCGCCGCCGCCGCCGCCGCC | CA2420209375 | ARX | c.315_342delinsGGCGGCGGCGGCGGCGGCGGCAGCGGCC (p.Ala105=)
| |
X | g.25013653_25013686delinsGGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCC | CA2420209378 | ARX | c.309_342delinsGGCGGCGGCGGCGGCGGCGGCGGCGGCAGCGGCC (p.Ala103=)
| |
X | g.25013654G>A | CA412613376 | ARX | c.341C>T (p.Ala114Val)
| gnomAD v4 |
X | g.25013654G>C | CA412613377 | ARX | c.341C>G (p.Ala114Gly)
| |
X | g.25013654G>T | CA412613378 | ARX | c.341C>A (p.Ala114Asp)
| |
X | g.25013658_25013659insCGCCGCCGC | CA2420209380 | ARX | c.341_342insGGCGGCGGC (p.Ala114_Ala115insAlaAlaAla)
| dbSNP |
X | g.25013659_25013664dup | CA2693353733 | ARX | c.336_341dup (p.Ala114_Ala115insAlaAla)
| gnomAD v4 |
X | g.25013659_25013664del | CA874147897 | ARX | c.336_341del (p.Ala113_Ala114del)
| ClinVar dbSNP |
X | g.25013659_25013667del | CA2420209381 | ARX | c.333_341del (p.Ala112_Ala114del)
| dbSNP |
X | g.25013659_25013670del | CA1131757349 | ARX | c.330_341del (p.Ala111_Ala114del)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013659_25013676del | CA2573158503 | ARX | c.324_341del (p.Ala109_Ala114del)
| ClinVar dbSNP |
X | g.25013659_25013679del | CA658799628 | ARX | c.321_341del (p.Ala108_Ala114del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013659_25013685del | CA2420209379 | ARX | c.315_341del (p.Ala106_Ala114del)
| dbSNP |
X | g.25013665_25013697dup | CA891843652 | ARX | c.309_341dup (p.Ala114_Ala115insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013665_25013697del | CA874147898 | ARX | c.309_341del (p.Ala104_Ala114del)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013655C>A | CA412613379 | ARX | c.340G>T (p.Ala114Ser)
| gnomAD v4 |
X | g.25013655C>G | CA412613380 | ARX | c.340G>C (p.Ala114Pro)
| |
X | g.25013655C>T | CA412613381 | ARX | c.340G>A (p.Ala114Thr)
| gnomAD v4 |
X | g.25013656C>A | CA515947977 | ARX | c.339G>T (p.Ala113=)
| gnomAD v4 |
X | g.25013656C>G | CA515947978 | ARX | c.339G>C (p.Ala113=)
| |
X | g.25013656C>T | CA515947980 | ARX | c.339G>A (p.Ala113=)
| |
X | g.25013656_25013659delinsCGCT | CA2420209382 | ARX | c.336_339delinsAGCG (p.Ala112=)
| |
X | g.25013657G>A | CA412613382 | ARX | c.338C>T (p.Ala113Val)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.25013657G>C | CA412613383 | ARX | c.338C>G (p.Ala113Gly)
| |
X | g.25013657G= | CA2420209384 | ARX | c.338C= (p.Ala113=)
| |
X | g.25013657G>T | CA412613384 | ARX | c.338C>A (p.Ala113Glu)
| gnomAD v4 |
X | g.25013659_25013661dup | CA2693353734 | ARX | c.336_338dup (p.Ala113_Ala114insAla)
| ClinVar gnomAD v4 |
X | g.25013659_25013661del | CA2420209383 | ARX | c.336_338del (p.Ala113del)
| ClinVar dbSNP |
X | g.25013658C>A | CA412613385 | ARX | c.337G>T (p.Ala113Ser)
| gnomAD v4 |
X | g.25013658C>G | CA412613387 | ARX | c.337G>C (p.Ala113Pro)
| |
X | g.25013658C>T | CA412613386 | ARX | c.337G>A (p.Ala113Thr)
| |
X | g.25013658_25013659insGCC | CA2499226597 | ARX | c.337_338insGCG (p.Ala112_Ala113insGly)
| ClinVar dbSNP |
X | g.25013659T>A | CA515947990 | ARX | c.336A>T (p.Ala112=)
| |
X | g.25013659T>C | CA241829 | ARX | c.336A>G (p.Ala112=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013659T>G | CA515947989 | ARX | c.336A>C (p.Ala112=)
| |
X | g.25013659T= | CA2420209386 | ARX | c.336A= (p.Ala112=)
| |
X | g.25013659_25013677delinsTGCCGCCGCCGCCGCCGCC | CA2420209385 | ARX | c.318_336delinsGGCGGCGGCGGCGGCGGCA (p.Ala106=)
| |
X | g.25013660G>A | CA412613390 | ARX | c.335C>T (p.Ala112Val)
| gnomAD v4 |
X | g.25013660G>C | CA412613389 | ARX | c.335C>G (p.Ala112Gly)
| |
X | g.25013660G>T | CA412613388 | ARX | c.335C>A (p.Ala112Glu)
| |
X | g.25013689_25013691dup | CA171154 | ARX | c.333_335dup (p.Ala112_Ala113insAla)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013686_25013691dup | CA16621353 | ARX | c.330_335dup (p.Ala112_Ala113insAlaAla)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013683_25013691dup | CA241827 | ARX | c.327_335dup (p.Ala112_Ala113insAlaAlaAla)
| ClinVar dbSNP gnomAD v4 |
X | g.25013680_25013691dup | CA920402032 | ARX | c.324_335dup (p.Ala112_Ala113insAlaAlaAlaAla)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013677_25013691dup | CA2580616915 | ARX | c.321_335dup (p.Ala112_Ala113insAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013674_25013691dup | CA913187407 | ARX | c.318_335dup (p.Ala112_Ala113insAlaAlaAlaAlaAlaAla)
| |
X | g.25013671_25013691dup | CA213330 | ARX | c.315_335dup (p.Ala112_Ala113insAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013668_25013691dup | CA213320 | ARX | c.312_335dup (p.Ala112_Ala113insAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013689_25013691del | CA16616470 | ARX | c.333_335del (p.Ala112del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013686_25013691del | CA171152 | ARX | c.330_335del (p.Ala111_Ala112del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013683_25013691del | CA641364635 | ARX | c.327_335del (p.Ala110_Ala112del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013680_25013691del | CA241825 | ARX | c.324_335del (p.Ala109_Ala112del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013677_25013691del | CA874147966 | ARX | c.321_335del (p.Ala108_Ala112del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013674_25013691del | CA658656857 | ARX | c.318_335del (p.Ala107_Ala112del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013671_25013691del | CA2580616914 | ARX | c.315_335del (p.Ala106_Ala112del)
| ClinVar dbSNP gnomAD v4 |
X | g.25013668_25013691del | CA2569327553 | ARX | c.312_335del (p.Ala105_Ala112del)
| |
X | g.25013661C>A | CA412613391 | ARX | c.334G>T (p.Ala112Ser)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.25013661C= | CA2420209387 | ARX | c.334G= (p.Ala112=)
| |
X | g.25013661C>G | CA412613392 | ARX | c.334G>C (p.Ala112Pro)
| |
X | g.25013661C>T | CA412613393 | ARX | c.334G>A (p.Ala112Thr)
| gnomAD v4 |
X | g.25013662C>A | CA515948014 | ARX | c.333G>T (p.Ala111=)
| ClinVar dbSNP |
X | g.25013662C= | CA2420209388 | ARX | c.333G= (p.Ala111=)
| |
X | g.25013662C>G | CA515948016 | ARX | c.333G>C (p.Ala111=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013662C>T | CA515948019 | ARX | c.333G>A (p.Ala111=)
| gnomAD v4 |
X | g.25013663G>A | CA412613394 | ARX | c.332C>T (p.Ala111Val)
| gnomAD v4 |
X | g.25013663G>C | CA412613396 | ARX | c.332C>G (p.Ala111Gly)
| gnomAD v4 |
X | g.25013663G>T | CA412613395 | ARX | c.332C>A (p.Ala111Glu)
| |
X | g.25013664_25013665insTGC | CA2516781180 | ARX | c.332_333insAGC (p.Ala111_Ala112insAla)
| |
X | g.25013664C>A | CA412613397 | ARX | c.331G>T (p.Ala111Ser)
| gnomAD v4 |
X | g.25013664C>G | CA412613398 | ARX | c.331G>C (p.Ala111Pro)
| |
X | g.25013664C>T | CA412613399 | ARX | c.331G>A (p.Ala111Thr)
| gnomAD v4 |
X | g.25013665C>A | CA515948022 | ARX | c.330G>T (p.Ala110=)
| |
X | g.25013665C= | CA2420209389 | ARX | c.330G= (p.Ala110=)
| |
X | g.25013665C>G | CA515948024 | ARX | c.330G>C (p.Ala110=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013665C>T | CA515948026 | ARX | c.330G>A (p.Ala110=)
| dbSNP gnomAD v4 |
X | g.25013666G>A | CA412613400 | ARX | c.329C>T (p.Ala110Val)
| gnomAD v4 |
X | g.25013666G>C | CA412613401 | ARX | c.329C>G (p.Ala110Gly)
| |
X | g.25013666G>T | CA412613402 | ARX | c.329C>A (p.Ala110Glu)
| gnomAD v4 |
X | g.25013667C>A | CA412613403 | ARX | c.328G>T (p.Ala110Ser)
| |
X | g.25013667C>G | CA412613404 | ARX | c.328G>C (p.Ala110Pro)
| |
X | g.25013667C>T | CA412613405 | ARX | c.328G>A (p.Ala110Thr)
| gnomAD v4 |
X | g.25013668C>A | CA515948033 | ARX | c.327G>T (p.Ala109=)
| gnomAD v4 |
X | g.25013668C= | CA2420209390 | ARX | c.327G= (p.Ala109=)
| |
X | g.25013668C>G | CA515948034 | ARX | c.327G>C (p.Ala109=)
| |
X | g.25013668C>T | CA515948035 | ARX | c.327G>A (p.Ala109=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013669G>A | CA412613406 | ARX | c.326C>T (p.Ala109Val)
| gnomAD v4 |
X | g.25013669G>C | CA412613407 | ARX | c.326C>G (p.Ala109Gly)
| |
X | g.25013669G>T | CA412613408 | ARX | c.326C>A (p.Ala109Glu)
| gnomAD v4 |
X | g.25013674_25013697dup | CA16621354 | ARX | c.303_326dup (p.Ala109_Ala110insAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013670C>A | CA412613409 | ARX | c.325G>T (p.Ala109Ser)
| |
X | g.25013670C>G | CA412613411 | ARX | c.325G>C (p.Ala109Pro)
| |
X | g.25013670C>T | CA412613410 | ARX | c.325G>A (p.Ala109Thr)
| gnomAD v4 |
X | g.25013671C>A | CA515948038 | ARX | c.324G>T (p.Ala108=)
| gnomAD v4 |
X | g.25013671C= | CA2420209391 | ARX | c.324G= (p.Ala108=)
| |
X | g.25013671C>G | CA515948041 | ARX | c.324G>C (p.Ala108=)
| |
X | g.25013671C>T | CA515948044 | ARX | c.324G>A (p.Ala108=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013672G>A | CA412613412 | ARX | c.323C>T (p.Ala108Val)
| gnomAD v4 |
X | g.25013672G>C | CA412613413 | ARX | c.323C>G (p.Ala108Gly)
| |
X | g.25013672G>T | CA412613414 | ARX | c.323C>A (p.Ala108Glu)
| gnomAD v4 |
X | g.25013677_25013697dup | CA2499226598 | ARX | c.303_323dup (p.Ala108_Ala109insAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
X | g.25013677_25013697del | CA2579576424 | ARX | c.303_323del (p.Ala102_Ala108del)
| |
X | g.25013673C>A | CA412613415 | ARX | c.322G>T (p.Ala108Ser)
| |
X | g.25013673C>G | CA412613416 | ARX | c.322G>C (p.Ala108Pro)
| |
X | g.25013673C>T | CA412613417 | ARX | c.322G>A (p.Ala108Thr)
| gnomAD v4 |
X | g.25013674C>A | CA515948052 | ARX | c.321G>T (p.Ala107=)
| |
X | g.25013674C= | CA2420209392 | ARX | c.321G= (p.Ala107=)
| |
X | g.25013674C>G | CA515948054 | ARX | c.321G>C (p.Ala107=)
| |
X | g.25013674C>T | CA515948055 | ARX | c.321G>A (p.Ala107=)
| dbSNP gnomAD v4 |
X | g.25013675G>A | CA412613418 | ARX | c.320C>T (p.Ala107Val)
| gnomAD v4 |
X | g.25013675G>C | CA412613419 | ARX | c.320C>G (p.Ala107Gly)
| |
X | g.25013675G>T | CA412613420 | ARX | c.320C>A (p.Ala107Glu)
| |
X | g.25013676C>A | CA412613422 | ARX | c.319G>T (p.Ala107Ser)
| |
X | g.25013676C= | CA2420209393 | ARX | c.319G= (p.Ala107=)
| |
X | g.25013676C>G | CA412613423 | ARX | c.319G>C (p.Ala107Pro)
| |
X | g.25013676C>T | CA412613421 | ARX | c.319G>A (p.Ala107Thr)
| dbSNP gnomAD v4 |
X | g.25013677C>A | CA515948064 | ARX | c.318G>T (p.Ala106=)
| |
X | g.25013677C= | CA2420209395 | ARX | c.318G= (p.Ala106=)
| |
X | g.25013677C>G | CA327733059 | ARX | c.318G>C (p.Ala106=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013677C>T | CA515948065 | ARX | c.318G>A (p.Ala106=)
| dbSNP gnomAD v4 |
X | g.25013677_25013692delinsCGCCGCCGCCGCCGCT | CA2420209394 | ARX | c.303_318delinsAGCGGCGGCGGCGGCG (p.Ala101=)
| |
X | g.25013678G>A | CA412613426 | ARX | c.317C>T (p.Ala106Val)
| gnomAD v4 |
X | g.25013678G>C | CA412613424 | ARX | c.317C>G (p.Ala106Gly)
| |
X | g.25013678G>T | CA412613425 | ARX | c.317C>A (p.Ala106Glu)
| |
X | g.25013683_25013697del | CA874148013 | ARX | c.303_317del (p.Ala102_Ala106del)
| ClinVar dbSNP gnomAD v4 |
X | g.25013679C>A | CA412613427 | ARX | c.316G>T (p.Ala106Ser)
| |
X | g.25013679C= | CA2420209396 | ARX | c.316G= (p.Ala106=)
| |
X | g.25013679C>G | CA412613428 | ARX | c.316G>C (p.Ala106Pro)
| |
X | g.25013679C>T | CA412613429 | ARX | c.316G>A (p.Ala106Thr)
| dbSNP gnomAD v4 |
X | g.25013680C>A | CA515948072 | ARX | c.315G>T (p.Ala105=)
| |
X | g.25013680C= | CA2420209398 | ARX | c.315G= (p.Ala105=)
| |
X | g.25013680C>G | CA515948075 | ARX | c.315G>C (p.Ala105=)
| |
X | g.25013680C>T | CA515948076 | ARX | c.315G>A (p.Ala105=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.25013684_25013685insTCGCCG | CA641364636 | ARX | c.315_316insACGGCG (p.Ala105_Ala106insThrAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013680_25013692delinsCGCCGCCGCCGCT | CA2420209397 | ARX | c.303_315delinsAGCGGCGGCGGCG (p.Ala101=)
| |
X | g.25013681G>A | CA412613432 | ARX | c.314C>T (p.Ala105Val)
| gnomAD v4 |
X | g.25013681G>C | CA412613431 | ARX | c.314C>G (p.Ala105Gly)
| |
X | g.25013681G>T | CA412613430 | ARX | c.314C>A (p.Ala105Glu)
| |
X | g.25013686_25013697dup | CA2420209399 | ARX | c.303_314dup (p.Ala105_Ala106insAlaAlaAlaAla)
| dbSNP |
X | g.25013686_25013697del | CA641364637 | ARX | c.303_314del (p.Ala102_Ala105del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25013682C>A | CA412613433 | ARX | c.313G>T (p.Ala105Ser)
| |
X | g.25013682C>G | CA412613434 | ARX | c.313G>C (p.Ala105Pro)
| |
X | g.25013682C>T | CA412613435 | ARX | c.313G>A (p.Ala105Thr)
| |
X | g.25013683C>A | CA515948080 | ARX | c.312G>T (p.Ala104=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013683C= | CA2420209400 | ARX | c.312G= (p.Ala104=)
| |
X | g.25013683C>G | CA515948081 | ARX | c.312G>C (p.Ala104=)
| ClinVar |
X | g.25013683C>T | CA515948082 | ARX | c.312G>A (p.Ala104=)
| ClinVar dbSNP gnomAD v4 |
X | g.25013684G>A | CA412613436 | ARX | c.311C>T (p.Ala104Val)
| ClinVar gnomAD v4 |
X | g.25013684G>C | CA412613437 | ARX | c.311C>G (p.Ala104Gly)
| |
X | g.25013684G>T | CA412613438 | ARX | c.311C>A (p.Ala104Glu)
| gnomAD v4 |
X | g.25013689_25013697dup | CA2693353735 | ARX | c.303_311dup (p.Ala104_Ala105insAlaAlaAla)
| gnomAD v4 |
X | g.25013689_25013697del | CA2740092072 | ARX | c.303_311del (p.Ala102_Ala104del)
| ClinVar |
X | g.25013685C>A | CA412613439 | ARX | c.310G>T (p.Ala104Ser)
| |
X | g.25013685C>G | CA412613441 | ARX | c.310G>C (p.Ala104Pro)
| |
X | g.25013685C>T | CA412613440 | ARX | c.310G>A (p.Ala104Thr)
| gnomAD v4 |