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.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) | 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=) | |
| X | g.25013185G>A | CA515947559 | ARX | c.810C>T (p.Ala270=) | ClinVar dbSNP |
| X | g.25013185G>C | CA515947560 | ARX | c.810C>G (p.Ala270=) | |
| X | g.25013185G= | CA2420209147 | ARX | c.810C= (p.Ala270=) | |
| X | g.25013185G>T | CA515947561 | ARX | c.810C>A (p.Ala270=) | |
| X | g.25013186del | CA2532794375 | ARX | c.810del (p.Thr271LeufsTer?) | |
| X | g.25013186G>A | CA412612385 | ARX | c.809C>T (p.Ala270Val) | gnomAD v4 |
| X | g.25013186G>C | CA412612386 | ARX | c.809C>G (p.Ala270Gly) | |
| X | g.25013186G>T | CA412612387 | ARX | c.809C>A (p.Ala270Asp) | gnomAD v4 |
| X | g.25013187C>A | CA412612388 | ARX | c.808G>T (p.Ala270Ser) | |
| X | g.25013187C= | CA2420209148 | ARX | c.808G= (p.Ala270=) | |
| X | g.25013187C>G | CA412612389 | ARX | c.808G>C (p.Ala270Pro) | |
| X | g.25013187C>T | CA16608410 | ARX | c.808G>A (p.Ala270Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013188G>A | CA171162 | ARX | c.807C>T (p.Ala269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013188G>C | CA515947570 | ARX | c.807C>G (p.Ala269=) | gnomAD v4 |
| X | g.25013188G= | CA2420209149 | ARX | c.807C= (p.Ala269=) | |
| X | g.25013188G>T | CA515947569 | ARX | c.807C>A (p.Ala269=) | gnomAD v4 |
| X | g.25013189G>A | CA412612390 | ARX | c.806C>T (p.Ala269Val) | dbSNP gnomAD v4 |
| X | g.25013189G>C | CA412612391 | ARX | c.806C>G (p.Ala269Gly) | |
| X | g.25013189G= | CA2420209150 | ARX | c.806C= (p.Ala269=) | |
| X | g.25013189G>T | CA412612392 | ARX | c.806C>A (p.Ala269Asp) | gnomAD v4 |
| X | g.25013190C>A | CA412612393 | ARX | c.805G>T (p.Ala269Ser) | |
| X | g.25013190C>G | CA412612394 | ARX | c.805G>C (p.Ala269Pro) | |
| X | g.25013190C>T | CA412612395 | ARX | c.805G>A (p.Ala269Thr) | gnomAD v4 |
| X | g.25013191C>A | CA515947573 | ARX | c.804G>T (p.Val268=) | |
| X | g.25013191C= | CA2420209151 | ARX | c.804G= (p.Val268=) | |
| X | g.25013191C>G | CA515947575 | ARX | c.804G>C (p.Val268=) | |
| X | g.25013191C>T | CA327733044 | ARX | c.804G>A (p.Val268=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013192A= | CA2420209152 | ARX | c.803T= (p.Val268=) | |
| X | g.25013192A>C | CA224137 | ARX | c.803T>G (p.Val268Gly) | ClinVar dbSNP gnomAD v4 |
| X | g.25013192A>G | CA412612396 | ARX | c.803T>C (p.Val268Ala) | |
| X | g.25013192A>T | CA412612397 | ARX | c.803T>A (p.Val268Glu) | |
| X | g.25013193C>A | CA294725 | ARX | c.802G>T (p.Val268Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013193C= | CA2420209153 | ARX | c.802G= (p.Val268=) | |
| X | g.25013193C>G | CA412612398 | ARX | c.802G>C (p.Val268Leu) | |
| X | g.25013193C>T | CA412612399 | ARX | c.802G>A (p.Val268Met) | |
| X | g.25013194A>C | CA515947581 | ARX | c.801T>G (p.Pro267=) | |
| X | g.25013194A>G | CA515947582 | ARX | c.801T>C (p.Pro267=) | |
| X | g.25013194A>T | CA515947583 | ARX | c.801T>A (p.Pro267=) | gnomAD v4 |
| X | g.25013195G>A | CA412612400 | ARX | c.800C>T (p.Pro267Leu) | gnomAD v4 |
| X | g.25013195G>C | CA412612401 | ARX | c.800C>G (p.Pro267Arg) | |
| X | g.25013195G>T | CA412612402 | ARX | c.800C>A (p.Pro267His) | gnomAD v4 |
| X | g.25013196G>A | CA412612403 | ARX | c.799C>T (p.Pro267Ser) | gnomAD v4 |
| X | g.25013196G>C | CA412612404 | ARX | c.799C>G (p.Pro267Ala) | |
| X | g.25013196G>T | CA412612405 | ARX | c.799C>A (p.Pro267Thr) | gnomAD v4 |
| X | g.25013197A>C | CA412612406 | ARX | c.798T>G (p.Cys266Trp) | |
| X | g.25013197A>G | CA515947591 | ARX | c.798T>C (p.Cys266=) | |
| X | g.25013197A>T | CA412612407 | ARX | c.798T>A (p.Cys266Ter) | |
| X | g.25013198C>A | CA412612410 | ARX | c.797G>T (p.Cys266Phe) | |
| X | g.25013198C>G | CA412612409 | ARX | c.797G>C (p.Cys266Ser) | |
| X | g.25013198C>T | CA412612408 | ARX | c.797G>A (p.Cys266Tyr) | |
| X | g.25013199A>C | CA412612411 | ARX | c.796T>G (p.Cys266Gly) | |
| X | g.25013199A>G | CA412612413 | ARX | c.796T>C (p.Cys266Arg) | |
| X | g.25013199A>T | CA412612412 | ARX | c.796T>A (p.Cys266Ser) | |
| X | g.25013200G>A | CA515947415 | ARX | c.795C>T (p.Arg265=) | |
| X | g.25013200G>C | CA515947412 | ARX | c.795C>G (p.Arg265=) | |
| X | g.25013200G>T | CA515947414 | ARX | c.795C>A (p.Arg265=) | |
| X | g.25013201C>A | CA412612414 | ARX | c.794G>T (p.Arg265Leu) | |
| X | g.25013201C= | CA2420209154 | ARX | c.794G= (p.Arg265=) | |
| X | g.25013201C>G | CA412612416 | ARX | c.794G>C (p.Arg265Pro) | gnomAD v4 |
| X | g.25013201C>T | CA412612415 | ARX | c.794G>A (p.Arg265His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.25013202G>A | CA10373876 | ARX | c.793C>T (p.Arg265Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013202G>C | CA412612417 | ARX | c.793C>G (p.Arg265Gly) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013202G= | CA2420209155 | ARX | c.793C= (p.Arg265=) | |
| X | g.25013202G>T | CA10373877 | ARX | c.793C>A (p.Arg265Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013203C>A | CA515947426 | ARX | c.792G>T (p.Arg264=) | |
| X | g.25013203C>G | CA515947427 | ARX | c.792G>C (p.Arg264=) | |
| X | g.25013203C>T | CA515947428 | ARX | c.792G>A (p.Arg264=) | gnomAD v4 |
| X | g.25013204C>A | CA412612418 | ARX | c.791G>T (p.Arg264Leu) | |
| X | g.25013204C= | CA2420209157 | ARX | c.791G= (p.Arg264=) | |
| X | g.25013204C>G | CA412612419 | ARX | c.791G>C (p.Arg264Pro) | |
| X | g.25013204C>T | CA327733045 | ARX | c.791G>A (p.Arg264Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013204_25013205delinsCG | CA2420209156 | ARX | c.790_791delinsCG (p.Arg264=) | |
| X | g.25013205G>A | CA412612420 | ARX | c.790C>T (p.Arg264Trp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013205G>C | CA412612421 | ARX | c.790C>G (p.Arg264Gly) | |
| X | g.25013205G= | CA2420209158 | ARX | c.790C= (p.Arg264=) | |
| X | g.25013205G>T | CA515947430 | ARX | c.790C>A (p.Arg264=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013208del | CA10605649 | ARX | c.790del (p.Arg264GlyfsTer?) | ClinVar dbSNP |
| X | g.25013206G>A | CA515947431 | ARX | c.789C>T (p.Pro263=) | |
| X | g.25013206G>C | CA515947433 | ARX | c.789C>G (p.Pro263=) | |
| X | g.25013206G>T | CA515947434 | ARX | c.789C>A (p.Pro263=) | |
| X | g.25013207G>A | CA412612422 | ARX | c.788C>T (p.Pro263Leu) | gnomAD v4 |
| X | g.25013207G>C | CA412612423 | ARX | c.788C>G (p.Pro263Arg) | |
| X | g.25013207G>T | CA412612424 | ARX | c.788C>A (p.Pro263His) | |
| X | g.25013208G>A | CA412612425 | ARX | c.787C>T (p.Pro263Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.25013208G>C | CA412612426 | ARX | c.787C>G (p.Pro263Ala) | |
| X | g.25013208G>T | CA412612427 | ARX | c.787C>A (p.Pro263Thr) | |
| X | g.25013209C>A | CA412612429 | ARX | c.786G>T (p.Glu262Asp) | gnomAD v4 |
| X | g.25013209C>G | CA412612428 | ARX | c.786G>C (p.Glu262Asp) | |
| X | g.25013209C>T | CA515947445 | ARX | c.786G>A (p.Glu262=) | |
| X | g.25013210T>A | CA412612430 | ARX | c.785A>T (p.Glu262Val) | |
| X | g.25013210T>C | CA412612431 | ARX | c.785A>G (p.Glu262Gly) | |
| X | g.25013210T>G | CA412612432 | ARX | c.785A>C (p.Glu262Ala) | |
| X | g.25013211C>A | CA412612433 | ARX | c.784G>T (p.Glu262Ter) | |
| X | g.25013211C>G | CA412612434 | ARX | c.784G>C (p.Glu262Gln) | |
| X | g.25013211C>T | CA412612435 | ARX | c.784G>A (p.Glu262Lys) | COSMIC |
| X | g.25013212C>A | CA412612436 | ARX | c.783G>T (p.Lys261Asn) | gnomAD v4 |
| X | g.25013212C>G | CA412612437 | ARX | c.783G>C (p.Lys261Asn) | |
| X | g.25013212C>T | CA515947451 | ARX | c.783G>A (p.Lys261=) | |
| X | g.25013213T>A | CA412612438 | ARX | c.782A>T (p.Lys261Met) | |
| X | g.25013213T>C | CA412612439 | ARX | c.782A>G (p.Lys261Arg) | |
| X | g.25013213T>G | CA412612440 | ARX | c.782A>C (p.Lys261Thr) | |
| X | g.25013214T>A | CA412612442 | ARX | c.781A>T (p.Lys261Ter) | |
| X | g.25013214T>C | CA327733046 | ARX | c.781A>G (p.Lys261Glu) | ClinVar dbSNP |
| X | g.25013214T>G | CA412612441 | ARX | c.781A>C (p.Lys261Gln) | |
| X | g.25013214T= | CA2420209159 | ARX | c.781A= (p.Lys261=) | |
| X | g.25013215G>A | CA10373878 | ARX | c.780C>T (p.Leu260=) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.25013215G>C | CA515947459 | ARX | c.780C>G (p.Leu260=) | |
| X | g.25013215G= | CA2420209160 | ARX | c.780C= (p.Leu260=) | |
| X | g.25013215G>T | CA515947461 | ARX | c.780C>A (p.Leu260=) | |
| X | g.25013216A>C | CA412612443 | ARX | c.779T>G (p.Leu260Arg) | |
| X | g.25013216A>G | CA412612444 | ARX | c.779T>C (p.Leu260Pro) | |
| X | g.25013216A>T | CA412612445 | ARX | c.779T>A (p.Leu260His) | |
| X | g.25013217G>A | CA412612446 | ARX | c.778C>T (p.Leu260Phe) | |
| X | g.25013217G>C | CA412612447 | ARX | c.778C>G (p.Leu260Val) | |
| X | g.25013217G>T | CA412612448 | ARX | c.778C>A (p.Leu260Ile) | |
| X | g.25013218C>A | CA515947469 | ARX | c.777G>T (p.Leu259=) | gnomAD v4 |
| X | g.25013218C>G | CA515947470 | ARX | c.777G>C (p.Leu259=) | |
| X | g.25013218C>T | CA515947471 | ARX | c.777G>A (p.Leu259=) | gnomAD v4 |
| X | g.25013219A= | CA2420209161 | ARX | c.776T= (p.Leu259=) | |
| X | g.25013219A>C | CA412612449 | ARX | c.776T>G (p.Leu259Arg) | |
| X | g.25013219A>G | CA10373879 | ARX | c.776T>C (p.Leu259Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013219A>T | CA412612450 | ARX | c.776T>A (p.Leu259Gln) | |
| X | g.25013220G>A | CA515947474 | ARX | c.775C>T (p.Leu259=) | |
| X | g.25013220G>C | CA412612451 | ARX | c.775C>G (p.Leu259Val) | |
| X | g.25013220G>T | CA412612452 | ARX | c.775C>A (p.Leu259Met) | |
| X | g.25013221C>A | CA515947478 | ARX | c.774G>T (p.Ala258=) | gnomAD v4 |
| X | g.25013221C= | CA2420209162 | ARX | c.774G= (p.Ala258=) | |
| X | g.25013221C>G | CA515947480 | ARX | c.774G>C (p.Ala258=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013221C>T | CA515947484 | ARX | c.774G>A (p.Ala258=) | gnomAD v4 |