| X | g.25004891_25007522dup | CA10575788 | ARX | c.1120-82_1469dup
| ClinVar |
| X | g.25007226_25007278dup | CA1139667342 | ARX | c.1287_1339dup (p.Pro447LeufsTer34)
| ClinVar dbSNP |
| X | g.25007262_25007267dup | CA641364596 | ARX | c.1299_1304dup (p.Ala435_Ala436insAlaAla)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007262_25007267del | CA16621350 | ARX | c.1299_1304del (p.Ala434_Ala435del)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007266A>C | CA515947052 | ARX | c.1293T>G (p.Thr431=)
| |
| X | g.25007266A>G | CA515947053 | ARX | c.1293T>C (p.Thr431=)
| gnomAD v4 |
| X | g.25007266A>T | CA515947054 | ARX | c.1293T>A (p.Thr431=)
| |
| X | g.25007267G>A | CA412611315 | ARX | c.1292C>T (p.Thr431Ile)
| |
| X | g.25007267G>C | CA412611314 | ARX | c.1292C>G (p.Thr431Ser)
| gnomAD v4 |
| X | g.25007267G>T | CA412611313 | ARX | c.1292C>A (p.Thr431Asn)
| gnomAD v4 |
| X | g.25007268T>A | CA412611316 | ARX | c.1291A>T (p.Thr431Ser)
| |
| X | g.25007268T>C | CA412611317 | ARX | c.1291A>G (p.Thr431Ala)
| |
| X | g.25007268T>G | CA412611318 | ARX | c.1291A>C (p.Thr431Pro)
| |
| X | g.25007269C>A | CA412611319 | ARX | c.1290G>T (p.Trp430Cys)
| gnomAD v4 |
| X | g.25007269C>G | CA412611320 | ARX | c.1290G>C (p.Trp430Cys)
| |
| X | g.25007269C>T | CA412611321 | ARX | c.1290G>A (p.Trp430Ter)
| gnomAD v4 |
| X | g.25007270C>A | CA412611322 | ARX | c.1289G>T (p.Trp430Leu)
| gnomAD v4 |
| X | g.25007270C>G | CA412611323 | ARX | c.1289G>C (p.Trp430Ser)
| |
| X | g.25007270C>T | CA412611324 | ARX | c.1289G>A (p.Trp430Ter)
| gnomAD v4 |
| X | g.25007271A>C | CA412611325 | ARX | c.1288T>G (p.Trp430Gly)
| |
| X | g.25007271A>G | CA412611326 | ARX | c.1288T>C (p.Trp430Arg)
| |
| X | g.25007271A>T | CA412611327 | ARX | c.1288T>A (p.Trp430Arg)
| gnomAD v4 |
| X | g.25007272A= | CA2420207063 | ARX | c.1287T= (p.Ala429=)
| |
| X | g.25007272A>C | CA515947055 | ARX | c.1287T>G (p.Ala429=)
| dbSNP gnomAD v4 |
| X | g.25007272A>G | CA515947057 | ARX | c.1287T>C (p.Ala429=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007272A>T | CA515947056 | ARX | c.1287T>A (p.Ala429=)
| |
| X | g.25007273G>A | CA412611328 | ARX | c.1286C>T (p.Ala429Val)
| |
| X | g.25007273G>C | CA412611330 | ARX | c.1286C>G (p.Ala429Gly)
| |
| X | g.25007273G>T | CA412611329 | ARX | c.1286C>A (p.Ala429Asp)
| gnomAD v4 |
| X | g.25007274C>A | CA412611331 | ARX | c.1285G>T (p.Ala429Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007274C= | CA2420207064 | ARX | c.1285G= (p.Ala429=)
| |
| X | g.25007274C>G | CA412611333 | ARX | c.1285G>C (p.Ala429Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007274C>T | CA412611332 | ARX | c.1285G>A (p.Ala429Thr)
| gnomAD v4 |
| X | g.25007275G>A | CA515947058 | ARX | c.1284C>T (p.Ser428=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.25007275G>C | CA515947059 | ARX | c.1284C>G (p.Ser428=)
| |
| X | g.25007275G= | CA2420207065 | ARX | c.1284C= (p.Ser428=)
| |
| X | g.25007275G>T | CA515947060 | ARX | c.1284C>A (p.Ser428=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007276_25007283dup | CA2739290435 | ARX | c.1277_1284dup (p.Ala429SerfsTer?)
| |
| X | g.25007276G>A | CA412611334 | ARX | c.1283C>T (p.Ser428Phe)
| |
| X | g.25007276G>C | CA412611335 | ARX | c.1283C>G (p.Ser428Cys)
| |
| X | g.25007276G>T | CA412611336 | ARX | c.1283C>A (p.Ser428Tyr)
| gnomAD v4 |
| X | g.25007277A>C | CA412611337 | ARX | c.1282T>G (p.Ser428Ala)
| |
| X | g.25007277A>G | CA412611338 | ARX | c.1282T>C (p.Ser428Pro)
| |
| X | g.25007277A>T | CA412611339 | ARX | c.1282T>A (p.Ser428Thr)
| |
| X | g.25007278G>A | CA171141 | ARX | c.1281C>T (p.Asp427=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007278G>C | CA412611340 | ARX | c.1281C>G (p.Asp427Glu)
| |
| X | g.25007278G= | CA2420207066 | ARX | c.1281C= (p.Asp427=)
| |
| X | g.25007278G>T | CA412611341 | ARX | c.1281C>A (p.Asp427Glu)
| gnomAD v4 |
| X | g.25007279T>A | CA412611342 | ARX | c.1280A>T (p.Asp427Val)
| |
| X | g.25007279T>C | CA412611343 | ARX | c.1280A>G (p.Asp427Gly)
| gnomAD v4 |
| X | g.25007279T>G | CA412611344 | ARX | c.1280A>C (p.Asp427Ala)
| |
| X | g.25007280C>A | CA412611345 | ARX | c.1279G>T (p.Asp427Tyr)
| gnomAD v4 |
| X | g.25007280C>G | CA412611347 | ARX | c.1279G>C (p.Asp427His)
| |
| X | g.25007280C>T | CA412611346 | ARX | c.1279G>A (p.Asp427Asn)
| gnomAD v4 |
| X | g.25007282_25007288del | CA2740092068 | ARX | c.1273_1279del (p.Ala425ThrfsTer?)
| ClinVar |
| X | g.25007281G>A | CA515947061 | ARX | c.1278C>T (p.Leu426=)
| gnomAD v4 |
| X | g.25007281G>C | CA515947062 | ARX | c.1278C>G (p.Leu426=)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007281G= | CA2420207067 | ARX | c.1278C= (p.Leu426=)
| |
| X | g.25007281G>T | CA515947063 | ARX | c.1278C>A (p.Leu426=)
| gnomAD v4 |
| X | g.25007282A>C | CA412611348 | ARX | c.1277T>G (p.Leu426Arg)
| |
| X | g.25007282A>G | CA412611349 | ARX | c.1277T>C (p.Leu426Pro)
| gnomAD v4 |
| X | g.25007282A>T | CA412611350 | ARX | c.1277T>A (p.Leu426His)
| gnomAD v4 |
| X | g.25007283G>A | CA412611351 | ARX | c.1276C>T (p.Leu426Phe)
| gnomAD v4 |
| X | g.25007283G>C | CA412611352 | ARX | c.1276C>G (p.Leu426Val)
| |
| X | g.25007283G>T | CA412611353 | ARX | c.1276C>A (p.Leu426Ile)
| |
| X | g.25007284C>A | CA515947064 | ARX | c.1275G>T (p.Ala425=)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007284C= | CA2420207068 | ARX | c.1275G= (p.Ala425=)
| |
| X | g.25007284C>G | CA515947065 | ARX | c.1275G>C (p.Ala425=)
| dbSNP |
| X | g.25007284C>T | CA515947066 | ARX | c.1275G>A (p.Ala425=)
| gnomAD v4 |
| X | g.25007285G>A | CA412611354 | ARX | c.1274C>T (p.Ala425Val)
| gnomAD v4 |
| X | g.25007285G>C | CA412611355 | ARX | c.1274C>G (p.Ala425Gly)
| |
| X | g.25007285G>T | CA412611356 | ARX | c.1274C>A (p.Ala425Glu)
| gnomAD v4 |
| X | g.25007286C>A | CA412611358 | ARX | c.1273G>T (p.Ala425Ser)
| |
| X | g.25007286C= | CA2420207069 | ARX | c.1273G= (p.Ala425=)
| |
| X | g.25007286C>G | CA412611359 | ARX | c.1273G>C (p.Ala425Pro)
| |
| X | g.25007286C>T | CA412611357 | ARX | c.1273G>A (p.Ala425Thr)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007287C>A | CA10373821 | ARX | c.1272G>T (p.Pro424=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007287C= | CA2420207070 | ARX | c.1272G= (p.Pro424=)
| |
| X | g.25007287C>G | CA515947067 | ARX | c.1272G>C (p.Pro424=)
| |
| X | g.25007287C>T | CA224121 | ARX | c.1272G>A (p.Pro424=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007288G>A | CA412611360 | ARX | c.1271C>T (p.Pro424Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007288G>C | CA412611361 | ARX | c.1271C>G (p.Pro424Arg)
| |
| X | g.25007288G>T | CA412611362 | ARX | c.1271C>A (p.Pro424Gln)
| dbSNP |
| X | g.25007289G>A | CA412611363 | ARX | c.1270C>T (p.Pro424Ser)
| |
| X | g.25007289G>C | CA412611364 | ARX | c.1270C>G (p.Pro424Ala)
| ClinVar dbSNP |
| X | g.25007289G>T | CA412611365 | ARX | c.1270C>A (p.Pro424Thr)
| gnomAD v4 |
| X | g.25007293_25007295del | CA2580616912 | ARX | c.1268_1270del (p.His423del)
| ClinVar dbSNP |
| X | g.25007290G>A | CA245473 | ARX | c.1269C>T (p.His423=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007290G>C | CA412611366 | ARX | c.1269C>G (p.His423Gln)
| gnomAD v4 |
| X | g.25007290G= | CA2420207071 | ARX | c.1269C= (p.His423=)
| |
| X | g.25007290G>T | CA412611367 | ARX | c.1269C>A (p.His423Gln)
| gnomAD v4 |
| X | g.25007291T>A | CA412611369 | ARX | c.1268A>T (p.His423Leu)
| |
| X | g.25007291T>C | CA412611370 | ARX | c.1268A>G (p.His423Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007291T>G | CA412611368 | ARX | c.1268A>C (p.His423Pro)
| |
| X | g.25007291T= | CA2420207072 | ARX | c.1268A= (p.His423=)
| |
| X | g.25007292G>A | CA412611371 | ARX | c.1267C>T (p.His423Tyr)
| gnomAD v4 |
| X | g.25007292G>C | CA412611372 | ARX | c.1267C>G (p.His423Asp)
| |
| X | g.25007292G>T | CA412611373 | ARX | c.1267C>A (p.His423Asn)
| gnomAD v4 |
| X | g.25007293G>A | CA515947068 | ARX | c.1266C>T (p.His422=)
| gnomAD v4 |
| X | g.25007293G>C | CA412611374 | ARX | c.1266C>G (p.His422Gln)
| |
| X | g.25007293G>T | CA412611375 | ARX | c.1266C>A (p.His422Gln)
| |
| X | g.25007294T>A | CA412611378 | ARX | c.1265A>T (p.His422Leu)
| |
| X | g.25007294T>C | CA412611376 | ARX | c.1265A>G (p.His422Arg)
| gnomAD v4 |
| X | g.25007294T>G | CA412611377 | ARX | c.1265A>C (p.His422Pro)
| |
| X | g.25007295G>A | CA412611379 | ARX | c.1264C>T (p.His422Tyr)
| |
| X | g.25007295G>C | CA412611380 | ARX | c.1264C>G (p.His422Asp)
| |
| X | g.25007295G>T | CA412611381 | ARX | c.1264C>A (p.His422Asn)
| gnomAD v4 |
| X | g.25007296C>A | CA515947069 | ARX | c.1263G>T (p.Pro421=)
| ClinVar gnomAD v4 |
| X | g.25007296C= | CA2420207073 | ARX | c.1263G= (p.Pro421=)
| |
| X | g.25007296C>G | CA327732619 | ARX | c.1263G>C (p.Pro421=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007296C>T | CA327732620 | ARX | c.1263G>A (p.Pro421=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007297G>A | CA412611382 | ARX | c.1262C>T (p.Pro421Leu)
| gnomAD v4 |
| X | g.25007297G>C | CA412611383 | ARX | c.1262C>G (p.Pro421Arg)
| |
| X | g.25007297G>T | CA412611384 | ARX | c.1262C>A (p.Pro421Gln)
| gnomAD v4 |
| X | g.25007298G>A | CA412611386 | ARX | c.1261C>T (p.Pro421Ser)
| gnomAD v4 |
| X | g.25007298G>C | CA412611387 | ARX | c.1261C>G (p.Pro421Ala)
| ClinVar dbSNP |
| X | g.25007298G= | CA2420207074 | ARX | c.1261C= (p.Pro421=)
| |
| X | g.25007298G>T | CA412611385 | ARX | c.1261C>A (p.Pro421Thr)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007298_25007303delinsGAGGGA | CA2420207075 | ARX | c.1256_1261delinsTCCCTC (p.Phe419=)
| |
| X | g.25007299A= | CA2420207076 | ARX | c.1260T= (p.Pro420=)
| |
| X | g.25007299A>C | CA16608868 | ARX | c.1260T>G (p.Pro420=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007299A>G | CA515947071 | ARX | c.1260T>C (p.Pro420=)
| dbSNP gnomAD v4 |
| X | g.25007299A>T | CA515947070 | ARX | c.1260T>A (p.Pro420=)
| |
| X | g.25007303_25007307del | CA1139667343 | ARX | c.1256_1260del (p.Phe419SerfsTer?)
| ClinVar dbSNP |
| X | g.25007300G>A | CA294729 | ARX | c.1259C>T (p.Pro420Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007300G>C | CA412611388 | ARX | c.1259C>G (p.Pro420Arg)
| |
| X | g.25007300G= | CA2420207077 | ARX | c.1259C= (p.Pro420=)
| |
| X | g.25007300G>T | CA412611389 | ARX | c.1259C>A (p.Pro420His)
| gnomAD v4 |
| X | g.25007301G>A | CA412611390 | ARX | c.1258C>T (p.Pro420Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007301G>C | CA412611391 | ARX | c.1258C>G (p.Pro420Ala)
| |
| X | g.25007301G= | CA2420207078 | ARX | c.1258C= (p.Pro420=)
| |
| X | g.25007301G>T | CA412611392 | ARX | c.1258C>A (p.Pro420Thr)
| gnomAD v4 |
| X | g.25007302G>A | CA515947072 | ARX | c.1257C>T (p.Phe419=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007302G>C | CA412611393 | ARX | c.1257C>G (p.Phe419Leu)
| |
| X | g.25007302G= | CA2420207079 | ARX | c.1257C= (p.Phe419=)
| |
| X | g.25007302G>T | CA412611394 | ARX | c.1257C>A (p.Phe419Leu)
| gnomAD v4 |
| X | g.25007303A>C | CA412611395 | ARX | c.1256T>G (p.Phe419Cys)
| |
| X | g.25007303A>G | CA412611396 | ARX | c.1256T>C (p.Phe419Ser)
| |
| X | g.25007303A>T | CA412611397 | ARX | c.1256T>A (p.Phe419Tyr)
| |
| X | g.25007304A>C | CA412611398 | ARX | c.1255T>G (p.Phe419Val)
| |
| X | g.25007304A>G | CA412611399 | ARX | c.1255T>C (p.Phe419Leu)
| |
| X | g.25007304A>T | CA412611400 | ARX | c.1255T>A (p.Phe419Ile)
| |
| X | g.25007305G>A | CA515947073 | ARX | c.1254C>T (p.Pro418=)
| |
| X | g.25007305G>C | CA515947074 | ARX | c.1254C>G (p.Pro418=)
| |
| X | g.25007305G>T | CA515947075 | ARX | c.1254C>A (p.Pro418=)
| gnomAD v4 |
| X | g.25007306G>A | CA412611403 | ARX | c.1253C>T (p.Pro418Leu)
| |
| X | g.25007306G>C | CA412611402 | ARX | c.1253C>G (p.Pro418Arg)
| ClinVar dbSNP |
| X | g.25007306G= | CA2420207080 | ARX | c.1253C= (p.Pro418=)
| |
| X | g.25007306G>T | CA412611401 | ARX | c.1253C>A (p.Pro418His)
| gnomAD v4 |
| X | g.25007307G>A | CA412611404 | ARX | c.1252C>T (p.Pro418Ser)
| ClinVar |
| X | g.25007307G>C | CA412611405 | ARX | c.1252C>G (p.Pro418Ala)
| |
| X | g.25007307G>T | CA412611406 | ARX | c.1252C>A (p.Pro418Thr)
| |
| X | g.25007308G>A | CA515947076 | ARX | c.1251C>T (p.Ser417=)
| gnomAD v4 |
| X | g.25007308G>C | CA412611407 | ARX | c.1251C>G (p.Ser417Arg)
| |
| X | g.25007308G>T | CA412611408 | ARX | c.1251C>A (p.Ser417Arg)
| |
| X | g.25007309C>A | CA412611409 | ARX | c.1250G>T (p.Ser417Ile)
| gnomAD v4 |
| X | g.25007309C>G | CA412611410 | ARX | c.1250G>C (p.Ser417Thr)
| |
| X | g.25007309C>T | CA412611411 | ARX | c.1250G>A (p.Ser417Asn)
| gnomAD v4 |
| X | g.25007310T>A | CA412611412 | ARX | c.1249A>T (p.Ser417Cys)
| |
| X | g.25007310T>C | CA412611413 | ARX | c.1249A>G (p.Ser417Gly)
| gnomAD v4 |
| X | g.25007310T>G | CA412611414 | ARX | c.1249A>C (p.Ser417Arg)
| |
| X | g.25007311G>A | CA515947242 | ARX | c.1248C>T (p.Ala416=)
| ClinVar gnomAD v4 |
| X | g.25007311G>C | CA515947243 | ARX | c.1248C>G (p.Ala416=)
| |
| X | g.25007311G>T | CA515947244 | ARX | c.1248C>A (p.Ala416=)
| |
| X | g.25007312G>A | CA412611415 | ARX | c.1247C>T (p.Ala416Val)
| gnomAD v4 |
| X | g.25007312G>C | CA10373822 | ARX | c.1247C>G (p.Ala416Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007312G= | CA2420207081 | ARX | c.1247C= (p.Ala416=)
| |
| X | g.25007312G>T | CA412611416 | ARX | c.1247C>A (p.Ala416Asp)
| gnomAD v4 |
| X | g.25007313C>A | CA412611418 | ARX | c.1246G>T (p.Ala416Ser)
| |
| X | g.25007313C>G | CA412611419 | ARX | c.1246G>C (p.Ala416Pro)
| gnomAD v4 |
| X | g.25007313C>T | CA412611417 | ARX | c.1246G>A (p.Ala416Thr)
| gnomAD v4 |
| X | g.25007314G>A | CA515947250 | ARX | c.1245C>T (p.Asp415=)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007314G>C | CA412611420 | ARX | c.1245C>G (p.Asp415Glu)
| |
| X | g.25007314G>T | CA412611421 | ARX | c.1245C>A (p.Asp415Glu)
| dbSNP gnomAD v4 |
| X | g.25007315T>A | CA412611422 | ARX | c.1244A>T (p.Asp415Val)
| |
| X | g.25007315T>C | CA412611423 | ARX | c.1244A>G (p.Asp415Gly)
| COSMIC |
| X | g.25007315T>G | CA412611424 | ARX | c.1244A>C (p.Asp415Ala)
| |
| X | g.25007316C>A | CA412611425 | ARX | c.1243G>T (p.Asp415Tyr)
| |
| X | g.25007316C>G | CA412611426 | ARX | c.1243G>C (p.Asp415His)
| |
| X | g.25007316C>T | CA412611427 | ARX | c.1243G>A (p.Asp415Asn)
| |
| X | g.25007317C>A | CA515947258 | ARX | c.1242G>T (p.Leu414=)
| gnomAD v4 |
| X | g.25007317C>G | CA515947260 | ARX | c.1242G>C (p.Leu414=)
| |
| X | g.25007317C>T | CA515947259 | ARX | c.1242G>A (p.Leu414=)
| gnomAD v4 |
| X | g.25007318A>C | CA412611428 | ARX | c.1241T>G (p.Leu414Arg)
| |
| X | g.25007318A>G | CA412611429 | ARX | c.1241T>C (p.Leu414Pro)
| gnomAD v4 |
| X | g.25007318A>T | CA412611430 | ARX | c.1241T>A (p.Leu414Gln)
| |
| X | g.25007319G>A | CA515947262 | ARX | c.1240C>T (p.Leu414=)
| |
| X | g.25007319G>C | CA412611431 | ARX | c.1240C>G (p.Leu414Val)
| ClinVar |
| X | g.25007319G>T | CA412611432 | ARX | c.1240C>A (p.Leu414Met)
| gnomAD v4 |
| X | g.25007320G>A | CA515947265 | ARX | c.1239C>T (p.Tyr413=)
| ClinVar gnomAD v4 |
| X | g.25007320G>C | CA412611433 | ARX | c.1239C>G (p.Tyr413Ter)
| |
| X | g.25007320G>T | CA412611434 | ARX | c.1239C>A (p.Tyr413Ter)
| gnomAD v4 |
| X | g.25007321T>A | CA412611435 | ARX | c.1238A>T (p.Tyr413Phe)
| |
| X | g.25007321T>C | CA412611436 | ARX | c.1238A>G (p.Tyr413Cys)
| dbSNP |
| X | g.25007321T>G | CA412611437 | ARX | c.1238A>C (p.Tyr413Ser)
| |
| X | g.25007321T= | CA2420207082 | ARX | c.1238A= (p.Tyr413=)
| |
| X | g.25007322A>C | CA412611438 | ARX | c.1237T>G (p.Tyr413Asp)
| |
| X | g.25007322A>G | CA412611439 | ARX | c.1237T>C (p.Tyr413His)
| gnomAD v4 |
| X | g.25007322A>T | CA412611440 | ARX | c.1237T>A (p.Tyr413Asn)
| |
| X | g.25007323G>A | CA515947269 | ARX | c.1236C>T (p.Pro412=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007323G>C | CA515947270 | ARX | c.1236C>G (p.Pro412=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007323G= | CA2420207083 | ARX | c.1236C= (p.Pro412=)
| |
| X | g.25007323G>T | CA515947271 | ARX | c.1236C>A (p.Pro412=)
| gnomAD v4 |
| X | g.25007324G>A | CA412611441 | ARX | c.1235C>T (p.Pro412Leu)
| |
| X | g.25007324G>C | CA412611442 | ARX | c.1235C>G (p.Pro412Arg)
| gnomAD v4 |
| X | g.25007324G>T | CA412611443 | ARX | c.1235C>A (p.Pro412His)
| gnomAD v4 |
| X | g.25007325G>A | CA412611444 | ARX | c.1234C>T (p.Pro412Ser)
| dbSNP |
| X | g.25007325G>C | CA412611445 | ARX | c.1234C>G (p.Pro412Ala)
| |
| X | g.25007325G>T | CA412611446 | ARX | c.1234C>A (p.Pro412Thr)
| gnomAD v4 |
| X | g.25007326G>A | CA515947276 | ARX | c.1233C>T (p.Ser411=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007326G>C | CA412611448 | ARX | c.1233C>G (p.Ser411Arg)
| |
| X | g.25007326G= | CA2420207084 | ARX | c.1233C= (p.Ser411=)
| |
| X | g.25007326G>T | CA412611447 | ARX | c.1233C>A (p.Ser411Arg)
| gnomAD v4 |
| X | g.25007327C>A | CA412611449 | ARX | c.1232G>T (p.Ser411Ile)
| gnomAD v4 |
| X | g.25007327C>G | CA412611451 | ARX | c.1232G>C (p.Ser411Thr)
| |
| X | g.25007327C>T | CA412611450 | ARX | c.1232G>A (p.Ser411Asn)
| gnomAD v4 |
| X | g.25007328T>A | CA412611452 | ARX | c.1231A>T (p.Ser411Cys)
| |
| X | g.25007328T>C | CA412611453 | ARX | c.1231A>G (p.Ser411Gly)
| gnomAD v4 |
| X | g.25007328T>G | CA412611454 | ARX | c.1231A>C (p.Ser411Arg)
| |
| X | g.25007329G>A | CA515947281 | ARX | c.1230C>T (p.Leu410=)
| gnomAD v4 |
| X | g.25007329G>C | CA515947282 | ARX | c.1230C>G (p.Leu410=)
| ClinVar |
| X | g.25007329G>T | CA515947283 | ARX | c.1230C>A (p.Leu410=)
| gnomAD v4 |
| X | g.25007330A>C | CA412611455 | ARX | c.1229T>G (p.Leu410Arg)
| |
| X | g.25007330A>G | CA412611456 | ARX | c.1229T>C (p.Leu410Pro)
| |
| X | g.25007330A>T | CA412611457 | ARX | c.1229T>A (p.Leu410His)
| |
| X | g.25007331G>A | CA412611458 | ARX | c.1228C>T (p.Leu410Phe)
| |
| X | g.25007331G>C | CA412611459 | ARX | c.1228C>G (p.Leu410Val)
| |
| X | g.25007331G>T | CA412611460 | ARX | c.1228C>A (p.Leu410Ile)
| gnomAD v4 |
| X | g.25007332C>A | CA515947288 | ARX | c.1227G>T (p.Pro409=)
| gnomAD v4 |
| X | g.25007332C= | CA2420207085 | ARX | c.1227G= (p.Pro409=)
| |
| X | g.25007332C>G | CA515947289 | ARX | c.1227G>C (p.Pro409=)
| |
| X | g.25007332C>T | CA515947291 | ARX | c.1227G>A (p.Pro409=)
| gnomAD v4 |
| X | g.25007333G>A | CA412611461 | ARX | c.1226C>T (p.Pro409Leu)
| gnomAD v4 |
| X | g.25007333G>C | CA412611462 | ARX | c.1226C>G (p.Pro409Arg)
| |
| X | g.25007333G= | CA2420207087 | ARX | c.1226C= (p.Pro409=)
| |
| X | g.25007333G>T | CA412611463 | ARX | c.1226C>A (p.Pro409Gln)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007339_25007342dup | CA2420207086 | ARX | c.1223_1226dup (p.Leu410ProfsTer?)
| ClinVar dbSNP |
| X | g.25007334G>A | CA412611466 | ARX | c.1225C>T (p.Pro409Ser)
| gnomAD v4 |
| X | g.25007334G>C | CA412611464 | ARX | c.1225C>G (p.Pro409Ala)
| |
| X | g.25007334G>T | CA412611465 | ARX | c.1225C>A (p.Pro409Thr)
| gnomAD v4 |
| X | g.25007335G>A | CA515947297 | ARX | c.1224C>T (p.His408=)
| |
| X | g.25007335G>C | CA412611467 | ARX | c.1224C>G (p.His408Gln)
| |
| X | g.25007335G>T | CA412611468 | ARX | c.1224C>A (p.His408Gln)
| gnomAD v4 |
| X | g.25007336T>A | CA412611469 | ARX | c.1223A>T (p.His408Leu)
| |
| X | g.25007336T>C | CA412611470 | ARX | c.1223A>G (p.His408Arg)
| |
| X | g.25007336T>G | CA412611471 | ARX | c.1223A>C (p.His408Pro)
| gnomAD v4 |
| X | g.25007337G>A | CA412611472 | ARX | c.1222C>T (p.His408Tyr)
| |
| X | g.25007337G>C | CA412611473 | ARX | c.1222C>G (p.His408Asp)
| |
| X | g.25007337G>T | CA412611474 | ARX | c.1222C>A (p.His408Asn)
| |
| X | g.25007338G>A | CA515947308 | ARX | c.1221C>T (p.Thr407=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007338G>C | CA515947305 | ARX | c.1221C>G (p.Thr407=)
| |
| X | g.25007338G= | CA2420207088 | ARX | c.1221C= (p.Thr407=)
| |
| X | g.25007338G>T | CA515947303 | ARX | c.1221C>A (p.Thr407=)
| gnomAD v4 |
| X | g.25007339G>A | CA412611475 | ARX | c.1220C>T (p.Thr407Ile)
| gnomAD v4 |
| X | g.25007339G>C | CA412611476 | ARX | c.1220C>G (p.Thr407Ser)
| |
| X | g.25007339G>T | CA412611477 | ARX | c.1220C>A (p.Thr407Asn)
| gnomAD v4 |
| X | g.25007340T>A | CA412611480 | ARX | c.1219A>T (p.Thr407Ser)
| |
| X | g.25007340T>C | CA412611479 | ARX | c.1219A>G (p.Thr407Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007340T>G | CA412611478 | ARX | c.1219A>C (p.Thr407Pro)
| |
| X | g.25007341G>A | CA515947315 | ARX | c.1218C>T (p.Ala406=)
| |
| X | g.25007341G>C | CA515947313 | ARX | c.1218C>G (p.Ala406=)
| |
| X | g.25007341G>T | CA515947312 | ARX | c.1218C>A (p.Ala406=)
| gnomAD v4 |
| X | g.25007342G>A | CA412611483 | ARX | c.1217C>T (p.Ala406Val)
| |
| X | g.25007342G>C | CA412611481 | ARX | c.1217C>G (p.Ala406Gly)
| |
| X | g.25007342G>T | CA412611482 | ARX | c.1217C>A (p.Ala406Asp)
| gnomAD v4 |
| X | g.25007343C>A | CA412611484 | ARX | c.1216G>T (p.Ala406Ser)
| gnomAD v4 |
| X | g.25007343C= | CA2420207089 | ARX | c.1216G= (p.Ala406=)
| |
| X | g.25007343C>G | CA412611485 | ARX | c.1216G>C (p.Ala406Pro)
| |
| X | g.25007343C>T | CA294727 | ARX | c.1216G>A (p.Ala406Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007344G>A | CA515947322 | ARX | c.1215C>T (p.Ser405=)
| gnomAD v4 |
| X | g.25007344G>C | CA515947319 | ARX | c.1215C>G (p.Ser405=)
| |
| X | g.25007344G>T | CA515947320 | ARX | c.1215C>A (p.Ser405=)
| gnomAD v4 |
| X | g.25007345G>A | CA412611488 | ARX | c.1214C>T (p.Ser405Phe)
| gnomAD v4 |
| X | g.25007345G>C | CA412611487 | ARX | c.1214C>G (p.Ser405Cys)
| |
| X | g.25007345G>T | CA412611486 | ARX | c.1214C>A (p.Ser405Tyr)
| gnomAD v4 |
| X | g.25007346A>C | CA412611489 | ARX | c.1213T>G (p.Ser405Ala)
| |
| X | g.25007346A>G | CA412611490 | ARX | c.1213T>C (p.Ser405Pro)
| gnomAD v4 |
| X | g.25007346A>T | CA412611491 | ARX | c.1213T>A (p.Ser405Thr)
| gnomAD v4 |
| X | g.25007347G>A | CA515947323 | ARX | c.1212C>T (p.Leu404=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007347G>C | CA515947324 | ARX | c.1212C>G (p.Leu404=)
| gnomAD v4 |
| X | g.25007347G= | CA2420207090 | ARX | c.1212C= (p.Leu404=)
| |
| X | g.25007347G>T | CA515947325 | ARX | c.1212C>A (p.Leu404=)
| gnomAD v4 |
| X | g.25007348A>C | CA412611492 | ARX | c.1211T>G (p.Leu404Arg)
| |
| X | g.25007348A>G | CA412611493 | ARX | c.1211T>C (p.Leu404Pro)
| gnomAD v4 |
| X | g.25007348A>T | CA412611494 | ARX | c.1211T>A (p.Leu404His)
| |
| X | g.25007349G>A | CA412611495 | ARX | c.1210C>T (p.Leu404Phe)
| |
| X | g.25007349G>C | CA412611497 | ARX | c.1210C>G (p.Leu404Val)
| |
| X | g.25007349G>T | CA412611496 | ARX | c.1210C>A (p.Leu404Ile)
| gnomAD v4 |
| X | g.25007350C>A | CA515947327 | ARX | c.1209G>T (p.Pro403=)
| gnomAD v4 |
| X | g.25007350C= | CA2420207091 | ARX | c.1209G= (p.Pro403=)
| |
| X | g.25007350C>G | CA515947328 | ARX | c.1209G>C (p.Pro403=)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007350C>T | CA515947329 | ARX | c.1209G>A (p.Pro403=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007351G>A | CA412611498 | ARX | c.1208C>T (p.Pro403Leu)
| gnomAD v4 |
| X | g.25007351G>C | CA412611499 | ARX | c.1208C>G (p.Pro403Arg)
| |
| X | g.25007351G>T | CA412611500 | ARX | c.1208C>A (p.Pro403Gln)
| gnomAD v4 |
| X | g.25007352G>A | CA412611501 | ARX | c.1207C>T (p.Pro403Ser)
| |
| X | g.25007352G>C | CA412611502 | ARX | c.1207C>G (p.Pro403Ala)
| |
| X | g.25007352G>T | CA412611503 | ARX | c.1207C>A (p.Pro403Thr)
| gnomAD v4 |
| X | g.25007353C>A | CA515947334 | ARX | c.1206G>T (p.Gly402=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007353C= | CA2420207092 | ARX | c.1206G= (p.Gly402=)
| |
| X | g.25007353C>G | CA515947335 | ARX | c.1206G>C (p.Gly402=)
| |
| X | g.25007353C>T | CA515947336 | ARX | c.1206G>A (p.Gly402=)
| dbSNP gnomAD v4 |
| X | g.25007356del | CA2573158494 | ARX | c.1206del (p.Pro403ArgfsTer?)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007354C>A | CA412611504 | ARX | c.1205G>T (p.Gly402Val)
| |
| X | g.25007354C>G | CA412611505 | ARX | c.1205G>C (p.Gly402Ala)
| |
| X | g.25007354C>T | CA412611506 | ARX | c.1205G>A (p.Gly402Glu)
| |
| X | g.25007355C>A | CA412611507 | ARX | c.1204G>T (p.Gly402Trp)
| ClinVar gnomAD v4 |
| X | g.25007355C= | CA2420207093 | ARX | c.1204G= (p.Gly402=)
| |
| X | g.25007355C>G | CA412611508 | ARX | c.1204G>C (p.Gly402Arg)
| |
| X | g.25007355C>T | CA412611509 | ARX | c.1204G>A (p.Gly402Arg)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007356C>A | CA515947339 | ARX | c.1203G>T (p.Pro401=)
| gnomAD v4 |
| X | g.25007356C= | CA2420207094 | ARX | c.1203G= (p.Pro401=)
| |
| X | g.25007356C>G | CA515947340 | ARX | c.1203G>C (p.Pro401=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007356C>T | CA515947341 | ARX | c.1203G>A (p.Pro401=)
| gnomAD v4 |
| X | g.25007357G>A | CA412611511 | ARX | c.1202C>T (p.Pro401Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007357G>C | CA412611512 | ARX | c.1202C>G (p.Pro401Arg)
| |
| X | g.25007357G= | CA2420207095 | ARX | c.1202C= (p.Pro401=)
| |
| X | g.25007357G>T | CA412611510 | ARX | c.1202C>A (p.Pro401Gln)
| gnomAD v4 |
| X | g.25007358G>A | CA412611513 | ARX | c.1201C>T (p.Pro401Ser)
| gnomAD v4 COSMIC |
| X | g.25007358G>C | CA412611514 | ARX | c.1201C>G (p.Pro401Ala)
| gnomAD v4 |
| X | g.25007358G>T | CA412611515 | ARX | c.1201C>A (p.Pro401Thr)
| gnomAD v4 |
| X | g.25007359G>A | CA515947343 | ARX | c.1200C>T (p.Phe400=)
| gnomAD v4 |
| X | g.25007359G>C | CA412611516 | ARX | c.1200C>G (p.Phe400Leu)
| |
| X | g.25007359G>T | CA412611517 | ARX | c.1200C>A (p.Phe400Leu)
| gnomAD v4 |
| X | g.25007360A>C | CA412611518 | ARX | c.1199T>G (p.Phe400Cys)
| |
| X | g.25007360A>G | CA412611519 | ARX | c.1199T>C (p.Phe400Ser)
| gnomAD v4 |
| X | g.25007360A>T | CA412611520 | ARX | c.1199T>A (p.Phe400Tyr)
| gnomAD v4 |
| X | g.25007361A>C | CA412611521 | ARX | c.1198T>G (p.Phe400Val)
| |
| X | g.25007361A>G | CA412611522 | ARX | c.1198T>C (p.Phe400Leu)
| gnomAD v4 |
| X | g.25007361A>T | CA412611523 | ARX | c.1198T>A (p.Phe400Ile)
| |
| X | g.25007362G>A | CA515947350 | ARX | c.1197C>T (p.Pro399=)
| gnomAD v4 |
| X | g.25007362G>C | CA515947349 | ARX | c.1197C>G (p.Pro399=)
| |
| X | g.25007362G>T | CA515947348 | ARX | c.1197C>A (p.Pro399=)
| gnomAD v4 |
| X | g.25007363G>A | CA412611524 | ARX | c.1196C>T (p.Pro399Leu)
| |
| X | g.25007363G>C | CA412611525 | ARX | c.1196C>G (p.Pro399Arg)
| |
| X | g.25007363G>T | CA412611526 | ARX | c.1196C>A (p.Pro399His)
| gnomAD v4 |
| X | g.25007364G>A | CA412611529 | ARX | c.1195C>T (p.Pro399Ser)
| gnomAD v4 |
| X | g.25007364G>C | CA412611528 | ARX | c.1195C>G (p.Pro399Ala)
| |
| X | g.25007364G>T | CA412611527 | ARX | c.1195C>A (p.Pro399Thr)
| gnomAD v4 |
| X | g.25007365C>A | CA515947356 | ARX | c.1194G>T (p.Leu398=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007365C= | CA2420207096 | ARX | c.1194G= (p.Leu398=)
| |
| X | g.25007365C>G | CA515947359 | ARX | c.1194G>C (p.Leu398=)
| |
| X | g.25007365C>T | CA515947357 | ARX | c.1194G>A (p.Leu398=)
| gnomAD v4 |
| X | g.25007366A>C | CA412611530 | ARX | c.1193T>G (p.Leu398Arg)
| |
| X | g.25007366A>G | CA412611531 | ARX | c.1193T>C (p.Leu398Pro)
| gnomAD v4 |
| X | g.25007366A>T | CA412611532 | ARX | c.1193T>A (p.Leu398Gln)
| |
