| 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.25007238_25007250delinsAGGCGGCGGCGGC | CA2420207048 | ARX | c.1309_1321delinsGCCGCCGCCGCCT (p.Ala437=)
| |
| X | g.25007239G>A | CA515947031 | ARX | c.1320C>T (p.Ala440=)
| ClinVar gnomAD v4 |
| X | g.25007239G>C | CA515947032 | ARX | c.1320C>G (p.Ala440=)
| |
| X | g.25007239G>T | CA515947030 | ARX | c.1320C>A (p.Ala440=)
| gnomAD v4 |
| X | g.25007257_25007259dup | CA233282 | ARX | c.1318_1320dup (p.Ala440_Phe441insAla)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007254_25007259dup | CA515947029 | ARX | c.1315_1320dup (p.Ala440_Phe441insAlaAla)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007251_25007259dup | CA641364595 | ARX | c.1312_1320dup (p.Ala440_Phe441insAlaAlaAla)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007248_25007259dup | CA2420207051 | ARX | c.1309_1320dup (p.Ala440_Phe441insAlaAlaAlaAla)
| dbSNP |
| X | g.25007257_25007259del | CA10373816 | ARX | c.1318_1320del (p.Ala440del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007254_25007259del | CA2420207050 | ARX | c.1315_1320del (p.Ala439_Ala440del)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007251_25007259del | CA327732616 | ARX | c.1312_1320del (p.Ala438_Ala440del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007248_25007259del | CA874143496 | ARX | c.1309_1320del (p.Ala437_Ala440del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007240G>A | CA412611259 | ARX | c.1319C>T (p.Ala440Val)
| |
| X | g.25007240G>C | CA412611260 | ARX | c.1319C>G (p.Ala440Gly)
| |
| X | g.25007240G>T | CA412611261 | ARX | c.1319C>A (p.Ala440Asp)
| gnomAD v4 |
| X | g.25007241C>A | CA412611262 | ARX | c.1318G>T (p.Ala440Ser)
| gnomAD v4 |
| X | g.25007241C>G | CA412611263 | ARX | c.1318G>C (p.Ala440Pro)
| |
| X | g.25007241C>T | CA412611264 | ARX | c.1318G>A (p.Ala440Thr)
| gnomAD v4 |
| X | g.25007242G>A | CA515947035 | ARX | c.1317C>T (p.Ala439=)
| gnomAD v4 |
| X | g.25007242G>C | CA515947034 | ARX | c.1317C>G (p.Ala439=)
| |
| X | g.25007242G>T | CA515947033 | ARX | c.1317C>A (p.Ala439=)
| gnomAD v4 |
| X | g.25007242_25007260delinsGGCGGCGGCGGCGGCGGCA | CA2420207052 | ARX | c.1299_1317delinsTGCCGCCGCCGCCGCCGCC (p.Ala433=)
| |
| X | g.25007243G>A | CA412611265 | ARX | c.1316C>T (p.Ala439Val)
| gnomAD v4 |
| X | g.25007243G>C | CA412611266 | ARX | c.1316C>G (p.Ala439Gly)
| |
| X | g.25007243G>T | CA412611267 | ARX | c.1316C>A (p.Ala439Asp)
| |
| X | g.25007248_25007265del | CA874143509 | ARX | c.1299_1316del (p.Ala434_Ala439del)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.25007244C>A | CA412611269 | ARX | c.1315G>T (p.Ala439Ser)
| gnomAD v4 |
| X | g.25007244C= | CA2420207053 | ARX | c.1315G= (p.Ala439=)
| |
| X | g.25007244C>G | CA412611270 | ARX | c.1315G>C (p.Ala439Pro)
| |
| X | g.25007244C>T | CA412611268 | ARX | c.1315G>A (p.Ala439Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007245G>A | CA515947038 | ARX | c.1314C>T (p.Ala438=)
| ClinVar gnomAD v4 |
| X | g.25007245G>C | CA515947037 | ARX | c.1314C>G (p.Ala438=)
| |
| X | g.25007245G>T | CA515947036 | ARX | c.1314C>A (p.Ala438=)
| gnomAD v4 |
| X | g.25007246G>A | CA412611271 | ARX | c.1313C>T (p.Ala438Val)
| gnomAD v4 |
| X | g.25007246G>C | CA412611272 | ARX | c.1313C>G (p.Ala438Gly)
| |
| X | g.25007246G>T | CA412611273 | ARX | c.1313C>A (p.Ala438Asp)
| gnomAD v4 |
| X | g.25007251_25007265dup | CA2740092067 | ARX | c.1299_1313dup (p.Ala438_Ala439insAlaAlaAlaAlaAla)
| ClinVar |
| X | g.25007247C>A | CA412611274 | ARX | c.1312G>T (p.Ala438Ser)
| gnomAD v4 |
| X | g.25007247C>G | CA412611275 | ARX | c.1312G>C (p.Ala438Pro)
| |
| X | g.25007247C>T | CA412611276 | ARX | c.1312G>A (p.Ala438Thr)
| ClinVar gnomAD v4 |
| X | g.25007248G>A | CA10373817 | ARX | c.1311C>T (p.Ala437=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.25007248G>C | CA515947040 | ARX | c.1311C>G (p.Ala437=)
| |
| X | g.25007248G= | CA2420207054 | ARX | c.1311C= (p.Ala437=)
| |
| X | g.25007248G>T | CA515947039 | ARX | c.1311C>A (p.Ala437=)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007248_25007260delinsGGCGGCGGCGGCA | CA2420207055 | ARX | c.1299_1311delinsTGCCGCCGCCGCC (p.Ala433=)
| |
| X | g.25007249G>A | CA412611277 | ARX | c.1310C>T (p.Ala437Val)
| gnomAD v4 |
| X | g.25007249G>C | CA412611278 | ARX | c.1310C>G (p.Ala437Gly)
| |
| X | g.25007249G>T | CA412611279 | ARX | c.1310C>A (p.Ala437Asp)
| gnomAD v4 |
| X | g.25007250_25007251insCGC | CA16621349 | ARX | c.1310_1311insGGC (p.Ala437_Ala438insAla)
| ClinVar dbSNP gnomAD v4 |
| X | g.25007254_25007265dup | CA2693353161 | ARX | c.1299_1310dup (p.Ala437_Ala438insAlaAlaAlaAla)
| gnomAD v4 |
| X | g.25007254_25007265del | CA10373818 | ARX | c.1299_1310del (p.Ala434_Ala437del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25007250C>A | CA412611280 | ARX | c.1309G>T (p.Ala437Ser)
| gnomAD v4 |
| X | g.25007250C= | CA2420207056 | ARX | c.1309G= (p.Ala437=)
| |
| X | g.25007250C>G | CA412611281 | ARX | c.1309G>C (p.Ala437Pro)
| |
| X | g.25007250C>T | CA412611282 | ARX | c.1309G>A (p.Ala437Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007251G>A | CA515947043 | ARX | c.1308C>T (p.Ala436=)
| ClinVar gnomAD v4 |
| X | g.25007251G>C | CA515947041 | ARX | c.1308C>G (p.Ala436=)
| |
| X | g.25007251G>T | CA515947042 | ARX | c.1308C>A (p.Ala436=)
| gnomAD v4 |
| X | g.25007252G>A | CA412611285 | ARX | c.1307C>T (p.Ala436Val)
| gnomAD v4 |
| X | g.25007252G>C | CA412611284 | ARX | c.1307C>G (p.Ala436Gly)
| |
| X | g.25007252G>T | CA412611283 | ARX | c.1307C>A (p.Ala436Asp)
| gnomAD v4 |
| X | g.25007257_25007265dup | CA2579637322 | ARX | c.1299_1307dup (p.Ala436_Ala437insAlaAlaAla)
| gnomAD v4 |
| X | g.25007257_25007265del | CA2565335476 | ARX | c.1299_1307del (p.Ala434_Ala436del)
| |
| X | g.25007253C>A | CA412611286 | ARX | c.1306G>T (p.Ala436Ser)
| |
| X | g.25007253C>G | CA412611287 | ARX | c.1306G>C (p.Ala436Pro)
| |
| X | g.25007253C>T | CA412611288 | ARX | c.1306G>A (p.Ala436Thr)
| gnomAD v4 |
| X | g.25007254G>A | CA10373819 | ARX | c.1305C>T (p.Ala435=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007254G>C | CA515947045 | ARX | c.1305C>G (p.Ala435=)
| |
| X | g.25007254G= | CA2420207057 | ARX | c.1305C= (p.Ala435=)
| |
| X | g.25007254G>T | CA515947044 | ARX | c.1305C>A (p.Ala435=)
| gnomAD v4 |
| X | g.25007255del | CA2693353162 | ARX | c.1305del (p.Ala436ProfsTer27)
| gnomAD v4 |
| X | g.25007254_25007260delinsGGCGGCA | CA2420207058 | ARX | c.1299_1305delinsTGCCGCC (p.Ala433=)
| |
| X | g.25007255G>A | CA412611289 | ARX | c.1304C>T (p.Ala435Val)
| |
| X | g.25007255G>C | CA412611290 | ARX | c.1304C>G (p.Ala435Gly)
| |
| X | g.25007255G>T | CA412611291 | ARX | c.1304C>A (p.Ala435Asp)
| gnomAD v4 |
| 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.25007256del | CA2693353163 | ARX | c.1303del (p.Ala435ProfsTer28)
| gnomAD v4 |
| X | g.25007256C>A | CA412611292 | ARX | c.1303G>T (p.Ala435Ser)
| |
| X | g.25007256C= | CA2420207059 | ARX | c.1303G= (p.Ala435=)
| |
| X | g.25007256C>G | CA412611293 | ARX | c.1303G>C (p.Ala435Pro)
| |
| X | g.25007256C>T | CA412611294 | ARX | c.1303G>A (p.Ala435Thr)
| gnomAD v4 |
| X | g.25007257G>A | CA515947046 | ARX | c.1302C>T (p.Ala434=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007257G>C | CA10373820 | ARX | c.1302C>G (p.Ala434=)
| dbSNP ExAC gnomAD v4 |
| X | g.25007257G= | CA2420207060 | ARX | c.1302C= (p.Ala434=)
| |
| X | g.25007257G>T | CA515947047 | ARX | c.1302C>A (p.Ala434=)
| |
| X | g.25007258_25007259insAGG | CA874143577 | ARX | c.1302_1303insTCC (p.Ala434_Ala435insSer)
| dbSNP |
| X | g.25007258G>A | CA412611295 | ARX | c.1301C>T (p.Ala434Val)
| gnomAD v4 |
| X | g.25007258G>C | CA412611296 | ARX | c.1301C>G (p.Ala434Gly)
| |
| X | g.25007258G>T | CA412611297 | ARX | c.1301C>A (p.Ala434Asp)
| gnomAD v4 |
| X | g.25007260_25007262dup | CA2579637329 | ARX | c.1299_1301dup (p.Ala434_Ala435insAla)
| |
| X | g.25007260_25007262del | CA2693353164 | ARX | c.1299_1301del (p.Ala434del)
| gnomAD v4 |
| X | g.25007259C>A | CA412611299 | ARX | c.1300G>T (p.Ala434Ser)
| gnomAD v4 |
| X | g.25007259C>G | CA412611300 | ARX | c.1300G>C (p.Ala434Pro)
| |
| X | g.25007259C>T | CA412611298 | ARX | c.1300G>A (p.Ala434Thr)
| gnomAD v4 |
| X | g.25007260A= | CA2420207061 | ARX | c.1299T= (p.Ala433=)
| |
| X | g.25007260A>C | CA515947048 | ARX | c.1299T>G (p.Ala433=)
| |
| X | g.25007260A>G | CA327732617 | ARX | c.1299T>C (p.Ala433=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007260A>T | CA515947049 | ARX | c.1299T>A (p.Ala433=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007261G>A | CA412611301 | ARX | c.1298C>T (p.Ala433Val)
| ClinVar dbSNP |
| X | g.25007261G>C | CA412611302 | ARX | c.1298C>G (p.Ala433Gly)
| |
| X | g.25007261G>T | CA412611303 | ARX | c.1298C>A (p.Ala433Asp)
| gnomAD v4 |
| X | g.25007262C>A | CA412611304 | ARX | c.1297G>T (p.Ala433Ser)
| gnomAD v4 |
| X | g.25007262C>G | CA412611305 | ARX | c.1297G>C (p.Ala433Pro)
| |
| X | g.25007262C>T | CA412611306 | ARX | c.1297G>A (p.Ala433Thr)
| gnomAD v4 |
| X | g.25007263G>A | CA327732618 | ARX | c.1296C>T (p.Ala432=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25007263G>C | CA515947050 | ARX | c.1296C>G (p.Ala432=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007263G= | CA2420207062 | ARX | c.1296C= (p.Ala432=)
| |
| X | g.25007263G>T | CA515947051 | ARX | c.1296C>A (p.Ala432=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.25007264G>A | CA412611307 | ARX | c.1295C>T (p.Ala432Val)
| gnomAD v4 |
| X | g.25007264G>C | CA412611308 | ARX | c.1295C>G (p.Ala432Gly)
| |
| X | g.25007264G>T | CA412611309 | ARX | c.1295C>A (p.Ala432Asp)
| gnomAD v4 |
| X | g.25007265C>A | CA412611310 | ARX | c.1294G>T (p.Ala432Ser)
| gnomAD v4 |
| X | g.25007265C>G | CA412611311 | ARX | c.1294G>C (p.Ala432Pro)
| |
| X | g.25007265C>T | CA412611312 | ARX | c.1294G>A (p.Ala432Thr)
| 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 |
