Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.47284306C>A | CA2638435330 | ITGB3 | c.362-137C>A (n.362-137C>A) c.327-137C>A | gnomAD v4 |
17 | g.47284306C>T | CA2638435331 | ITGB3 | c.362-137C>T (n.362-137C>T) c.327-137C>T | gnomAD v4 |
17 | g.47284307A>G | CA2638435332 | ITGB3 | c.362-136A>G (n.362-136A>G) c.327-136A>G | gnomAD v4 |
17 | g.47284308A= | CA2262605213 | ITGB3 | c.362-135A= (n.362-135A=) c.327-135A= | |
17 | g.47284308A>G | CA984234004 | ITGB3 | c.362-135A>G (n.362-135A>G) c.327-135A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284308A>T | CA2638435333 | ITGB3 | c.362-135A>T (n.362-135A>T) c.327-135A>T | gnomAD v4 |
17 | g.47284309A>T | CA2638435334 | ITGB3 | c.362-134A>T (n.362-134A>T) c.327-134A>T | gnomAD v4 |
17 | g.47284310G>A | CA772535849 | ITGB3 | c.362-133G>A (n.362-133G>A) c.327-133G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284310G>C | CA772535845 | ITGB3 | c.362-133G>C (n.362-133G>C) c.327-133G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284310G= | CA2262605214 | ITGB3 | c.362-133G= (n.362-133G=) c.327-133G= | |
17 | g.47284311G>A | CA291224615 | ITGB3 | c.362-132G>A (n.362-132G>A) c.327-132G>A | dbSNP |
17 | g.47284311G= | CA2262605215 | ITGB3 | c.362-132G= (n.362-132G=) c.327-132G= | |
17 | g.47284312A>T | CA2638435335 | ITGB3 | c.362-131A>T (n.362-131A>T) c.327-131A>T | gnomAD v4 |
17 | g.47284313A>C | CA2638435336 | ITGB3 | c.362-130A>C (n.362-130A>C) c.327-130A>C | gnomAD v4 |
17 | g.47284313A>G | CA2638435337 | ITGB3 | c.362-130A>G (n.362-130A>G) c.327-130A>G | gnomAD v4 |
17 | g.47284314G>A | CA772535853 | ITGB3 | c.362-129G>A (n.362-129G>A) c.327-129G>A | dbSNP gnomAD v4 |
17 | g.47284314G= | CA2262605216 | ITGB3 | c.362-129G= (n.362-129G=) c.327-129G= | |
17 | g.47284314G>T | CA2638435338 | ITGB3 | c.362-129G>T (n.362-129G>T) c.327-129G>T | gnomAD v4 |
17 | g.47284315A>C | CA2638435339 | ITGB3 | c.362-128A>C (n.362-128A>C) c.327-128A>C | gnomAD v4 |
17 | g.47284316G>T | CA2638435340 | ITGB3 | c.362-127G>T (n.362-127G>T) c.327-127G>T | gnomAD v4 |
17 | g.47284318A= | CA2262605217 | ITGB3 | c.362-125A= (n.362-125A=) c.327-125A= | |
17 | g.47284318A>C | CA984234024 | ITGB3 | c.362-125A>C (n.362-125A>C) c.327-125A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284321del | CA2638435341 | ITGB3 | c.362-122del (n.362-122del) c.327-122del | gnomAD v4 |
17 | g.47284320A= | CA2262605218 | ITGB3 | c.362-123A= (n.362-123A=) c.327-123A= | |
17 | g.47284320A>G | CA984234041 | ITGB3 | c.362-123A>G (n.362-123A>G) c.327-123A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284321A>G | CA2638435342 | ITGB3 | c.362-122A>G (n.362-122A>G) c.327-122A>G | gnomAD v4 |
17 | g.47284322G>T | CA2638435343 | ITGB3 | c.362-121G>T (n.362-121G>T) c.327-121G>T | gnomAD v4 |
17 | g.47284323G>A | CA772535856 | ITGB3 | c.362-120G>A (n.362-120G>A) c.327-120G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284323G= | CA2262605219 | ITGB3 | c.362-120G= (n.362-120G=) c.327-120G= | |
17 | g.47284323G>T | CA2638435344 | ITGB3 | c.362-120G>T (n.362-120G>T) c.327-120G>T | gnomAD v4 |
17 | g.47284324G>T | CA2638435345 | ITGB3 | c.362-119G>T (n.362-119G>T) c.327-119G>T | gnomAD v4 |
17 | g.47284326C>A | CA2638435346 | ITGB3 | c.362-117C>A (n.362-117C>A) c.327-117C>A | gnomAD v4 |
17 | g.47284326C>T | CA2638435347 | ITGB3 | c.362-117C>T (n.362-117C>T) c.327-117C>T | gnomAD v4 |
17 | g.47284327C>A | CA2638435348 | ITGB3 | c.362-116C>A (n.362-116C>A) c.327-116C>A | gnomAD v4 |
17 | g.47284328A= | CA2262605220 | ITGB3 | c.362-115A= (n.362-115A=) c.327-115A= | |
17 | g.47284328A>G | CA2262605221 | ITGB3 | c.362-115A>G (n.362-115A>G) c.327-115A>G | dbSNP gnomAD v4 |
17 | g.47284329G>T | CA2638435349 | ITGB3 | c.362-114G>T (n.362-114G>T) c.327-114G>T | gnomAD v4 |
17 | g.47284330G>A | CA984234047 | ITGB3 | c.362-113G>A (n.362-113G>A) c.327-113G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284330G>C | CA2262605223 | ITGB3 | c.362-113G>C (n.362-113G>C) c.327-113G>C | dbSNP gnomAD v4 |
17 | g.47284330G= | CA2262605222 | ITGB3 | c.362-113G= (n.362-113G=) c.327-113G= | |
17 | g.47284331G>A | CA2638435350 | ITGB3 | c.362-112G>A (n.362-112G>A) c.327-112G>A | gnomAD v4 |
17 | g.47284331G>T | CA2638435351 | ITGB3 | c.362-112G>T (n.362-112G>T) c.327-112G>T | gnomAD v4 |
17 | g.47284332C>A | CA2638435352 | ITGB3 | c.362-111C>A (n.362-111C>A) c.327-111C>A | gnomAD v4 |
17 | g.47284332_47284333delinsCT | CA2262605224 | ITGB3 | c.362-111_362-110delinsCT (n.362-111_362-110delinsCT) c.327-111_327-110delinsCT | |
17 | g.47284333T>C | CA2809686267 | ITGB3 | c.362-110T>C (n.362-110T>C) c.327-110T>C | |
17 | g.47284335del | CA2262605225 | ITGB3 | c.362-108del (n.362-108del) c.327-108del | dbSNP |
17 | g.47284334T>A | CA2809686268 | ITGB3 | c.362-109T>A (n.362-109T>A) c.327-109T>A | |
17 | g.47284336C>T | CA2638435353 | ITGB3 | c.362-107C>T (n.362-107C>T) c.327-107C>T | gnomAD v4 |
17 | g.47284337T>C | CA772535859 | ITGB3 | c.362-106T>C (n.362-106T>C) c.327-106T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284337T= | CA2262605226 | ITGB3 | c.362-106T= (n.362-106T=) c.327-106T= | |
17 | g.47284338G>T | CA2638435354 | ITGB3 | c.362-105G>T (n.362-105G>T) c.327-105G>T | gnomAD v4 |
17 | g.47284339G>A | CA2638435355 | ITGB3 | c.362-104G>A (n.362-104G>A) c.327-104G>A | gnomAD v4 |
17 | g.47284340T>A | CA2638435356 | ITGB3 | c.362-103T>A (n.362-103T>A) c.327-103T>A | gnomAD v4 |
17 | g.47284343_47284344delinsGC | CA2262605227 | ITGB3 | c.362-100_362-99delinsGC (n.362-100_362-99delinsGC) c.327-100_327-99delinsGC | |
17 | g.47284344del | CA984234063 | ITGB3 | c.362-99del (n.362-99del) c.327-99del | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284344C>A | CA2638435357 | ITGB3 | c.362-99C>A (n.362-99C>A) c.327-99C>A | gnomAD v4 |
17 | g.47284345T>C | CA2638435358 | ITGB3 | c.362-98T>C (n.362-98T>C) c.327-98T>C | gnomAD v4 |
17 | g.47284348G>C | CA2638435359 | ITGB3 | c.362-95G>C (n.362-95G>C) c.327-95G>C | gnomAD v4 |
17 | g.47284348G>T | CA2638435360 | ITGB3 | c.362-95G>T (n.362-95G>T) c.327-95G>T | gnomAD v4 |
17 | g.47284349A>G | CA2809686269 | ITGB3 | c.362-94A>G (n.362-94A>G) c.327-94A>G | |
17 | g.47284351C>A | CA2576302221 | ITGB3 | c.362-92C>A (n.362-92C>A) c.327-92C>A | |
17 | g.47284351C= | CA2262605228 | ITGB3 | c.362-92C= (n.362-92C=) c.327-92C= | |
17 | g.47284351C>T | CA291224617 | ITGB3 | c.362-92C>T (n.362-92C>T) c.327-92C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284352A= | CA2262605229 | ITGB3 | c.362-91A= (n.362-91A=) c.327-91A= | |
17 | g.47284352A>C | CA984234069 | ITGB3 | c.362-91A>C (n.362-91A>C) c.327-91A>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284352A>G | CA772535864 | ITGB3 | c.362-91A>G (n.362-91A>G) c.327-91A>G | dbSNP gnomAD v4 |
17 | g.47284352A>T | CA291224618 | ITGB3 | c.362-91A>T (n.362-91A>T) c.327-91A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284353T>C | CA2638435361 | ITGB3 | c.362-90T>C (n.362-90T>C) c.327-90T>C | gnomAD v4 |
17 | g.47284355C>A | CA2638435362 | ITGB3 | c.362-88C>A (n.362-88C>A) c.327-88C>A | gnomAD v4 |
17 | g.47284356A>C | CA2638435363 | ITGB3 | c.362-87A>C (n.362-87A>C) c.327-87A>C | gnomAD v4 |
17 | g.47284357A>G | CA2638435364 | ITGB3 | c.362-86A>G (n.362-86A>G) c.327-86A>G | gnomAD v4 |
17 | g.47284360T>C | CA2262605231 | ITGB3 | c.362-83T>C (n.362-83T>C) c.327-83T>C | dbSNP gnomAD v4 |
17 | g.47284360T= | CA2262605230 | ITGB3 | c.362-83T= (n.362-83T=) c.327-83T= | |
17 | g.47284361C= | CA2262605232 | ITGB3 | c.362-82C= (n.362-82C=) c.327-82C= | |
17 | g.47284361C>T | CA2262605233 | ITGB3 | c.362-82C>T (n.362-82C>T) c.327-82C>T | dbSNP |
17 | g.47284366T>C | CA626378261 | ITGB3 | c.362-77T>C (n.362-77T>C) c.327-77T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284366T>G | CA2638435365 | ITGB3 | c.362-77T>G (n.362-77T>G) c.327-77T>G | gnomAD v4 |
17 | g.47284366T= | CA2262605234 | ITGB3 | c.362-77T= (n.362-77T=) c.327-77T= | |
17 | g.47284367C>A | CA2638435366 | ITGB3 | c.362-76C>A (n.362-76C>A) c.327-76C>A | gnomAD v4 |
17 | g.47284368C>A | CA2638435367 | ITGB3 | c.362-75C>A (n.362-75C>A) c.327-75C>A | gnomAD v4 |
17 | g.47284368C= | CA2262605235 | ITGB3 | c.362-75C= (n.362-75C=) c.327-75C= | |
17 | g.47284368C>T | CA2262605236 | ITGB3 | c.362-75C>T (n.362-75C>T) c.327-75C>T | dbSNP |
17 | g.47284369C= | CA2262605237 | ITGB3 | c.362-74C= (n.362-74C=) c.327-74C= | |
17 | g.47284369C>G | CA2638435368 | ITGB3 | c.362-74C>G (n.362-74C>G) c.327-74C>G | gnomAD v4 |
17 | g.47284369C>T | CA2262605238 | ITGB3 | c.362-74C>T (n.362-74C>T) c.327-74C>T | dbSNP gnomAD v4 |
17 | g.47284370A>C | CA2809686270 | ITGB3 | c.362-73A>C (n.362-73A>C) c.327-73A>C | |
17 | g.47284371A= | CA2262605239 | ITGB3 | c.362-72A= (n.362-72A=) c.327-72A= | |
17 | g.47284371A>G | CA291224619 | ITGB3 | c.362-72A>G (n.362-72A>G) c.327-72A>G | dbSNP gnomAD v4 |
17 | g.47284372C= | CA2262605240 | ITGB3 | c.362-71C= (n.362-71C=) c.327-71C= | |
17 | g.47284372C>T | CA626378263 | ITGB3 | c.362-71C>T (n.362-71C>T) c.327-71C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284373T>G | CA2638435369 | ITGB3 | c.362-70T>G (n.362-70T>G) c.327-70T>G | gnomAD v4 |
17 | g.47284374G>A | CA291224621 | ITGB3 | c.362-69G>A (n.362-69G>A) c.327-69G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284374G>C | CA2638435370 | ITGB3 | c.362-69G>C (n.362-69G>C) c.327-69G>C | gnomAD v4 |
17 | g.47284374G= | CA2262605241 | ITGB3 | c.362-69G= (n.362-69G=) c.327-69G= | |
17 | g.47284376A= | CA2262605243 | ITGB3 | c.362-67A= (n.362-67A=) c.327-67A= | |
17 | g.47284376A>G | CA2262605242 | ITGB3 | c.362-67A>G (n.362-67A>G) c.327-67A>G | dbSNP |
17 | g.47284378C= | CA2262605244 | ITGB3 | c.362-65C= (n.362-65C=) c.327-65C= | |
17 | g.47284378C>T | CA2262605245 | ITGB3 | c.362-65C>T (n.362-65C>T) c.327-65C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284382del | CA2576302222 | ITGB3 | c.362-61del (n.362-61del) c.327-61del | |
17 | g.47284381A= | CA2262605246 | ITGB3 | c.362-62A= (n.362-62A=) c.327-62A= | |
17 | g.47284381A>G | CA772535867 | ITGB3 | c.362-62A>G (n.362-62A>G) c.327-62A>G | dbSNP gnomAD v4 |
17 | g.47284384C>A | CA2638435371 | ITGB3 | c.362-59C>A (n.362-59C>A) c.327-59C>A | gnomAD v4 |
17 | g.47284386G>A | CA2638435372 | ITGB3 | c.362-57G>A (n.362-57G>A) c.327-57G>A | gnomAD v4 |
17 | g.47284387del | CA2638435373 | ITGB3 | c.362-56del (n.362-56del) c.327-56del | gnomAD v4 |
17 | g.47284387C>A | CA2638435374 | ITGB3 | c.362-56C>A (n.362-56C>A) c.327-56C>A | gnomAD v4 |
17 | g.47284387C>T | CA2638435375 | ITGB3 | c.362-56C>T (n.362-56C>T) c.327-56C>T | gnomAD v4 |
17 | g.47284388T>C | CA2638435376 | ITGB3 | c.362-55T>C (n.362-55T>C) c.327-55T>C | gnomAD v4 |
17 | g.47284389T>G | CA291224622 | ITGB3 | c.362-54T>G (n.362-54T>G) c.327-54T>G | dbSNP gnomAD v4 |
17 | g.47284389T= | CA2262605247 | ITGB3 | c.362-54T= (n.362-54T=) c.327-54T= | |
17 | g.47284390A>T | CA2638435377 | ITGB3 | c.362-53A>T (n.362-53A>T) c.327-53A>T | gnomAD v4 |
17 | g.47284393C>A | CA2638435378 | ITGB3 | c.362-50C>A (n.362-50C>A) c.327-50C>A | gnomAD v4 |
17 | g.47284394A= | CA2262605249 | ITGB3 | c.362-49A= (n.362-49A=) c.327-49A= | |
17 | g.47284394A>C | CA626378266 | ITGB3 | c.362-49A>C (n.362-49A>C) c.327-49A>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284394A>T | CA2262605248 | ITGB3 | c.362-49A>T (n.362-49A>T) c.327-49A>T | dbSNP gnomAD v4 |
17 | g.47284395A= | CA2262605250 | ITGB3 | c.362-48A= (n.362-48A=) c.327-48A= | |
17 | g.47284395A>G | CA626378269 | ITGB3 | c.362-48A>G (n.362-48A>G) c.327-48A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284399T>C | CA626378271 | ITGB3 | c.362-44T>C (n.362-44T>C) c.327-44T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284399T>G | CA2638435379 | ITGB3 | c.362-44T>G (n.362-44T>G) c.327-44T>G | gnomAD v4 |
17 | g.47284399T= | CA2262605251 | ITGB3 | c.362-44T= (n.362-44T=) c.327-44T= | |
17 | g.47284400G>A | CA2638435380 | ITGB3 | c.362-43G>A (n.362-43G>A) c.327-43G>A | gnomAD v4 |
17 | g.47284400G>T | CA2638435381 | ITGB3 | c.362-43G>T (n.362-43G>T) c.327-43G>T | gnomAD v4 |
17 | g.47284401G>A | CA8622937 | ITGB3 | c.362-42G>A (n.362-42G>A) c.327-42G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47284401G= | CA2262605252 | ITGB3 | c.362-42G= (n.362-42G=) c.327-42G= | |
17 | g.47284402T>C | CA2638435382 | ITGB3 | c.362-41T>C (n.362-41T>C) c.327-41T>C | gnomAD v4 |
17 | g.47284402_47284403delinsTG | CA2262605253 | ITGB3 | c.362-41_362-40delinsTG (n.362-41_362-40delinsTG) c.327-41_327-40delinsTG | |
17 | g.47284403G>A | CA626378274 | ITGB3 | c.362-40G>A (n.362-40G>A) c.327-40G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284403G= | CA2262605254 | ITGB3 | c.362-40G= (n.362-40G=) c.327-40G= | |
17 | g.47284405del | CA626378277 | ITGB3 | c.362-38del (n.362-38del) c.327-38del | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284404G= | CA2262605255 | ITGB3 | c.362-39G= (n.362-39G=) c.327-39G= | |
17 | g.47284405_47284407dup | CA2638435383 | ITGB3 | c.362-38_362-36dup (n.362-38_362-36dup) c.327-38_327-36dup | gnomAD v4 |
17 | g.47284404_47284405insTC | CA626378279 | ITGB3 | c.362-39_362-38insTC (n.362-39_362-38insTC) c.327-39_327-38insTC | dbSNP gnomAD v2 |
17 | g.47284405G>T | CA626378281 | ITGB3 | c.362-38G>T (n.362-38G>T) c.327-38G>T | gnomAD v2 |
17 | g.47284405_47284408delinsGAGA | CA2262605256 | ITGB3 | c.362-38_362-35delinsGAGA (n.362-38_362-35delinsGAGA) c.327-38_327-35delinsGAGA | |
17 | g.47284405_47284406insCCGTATCATT | CA626378282 | ITGB3 | c.362-38_362-37insCCGTATCATT (n.362-38_362-37insCCGTATCATT) c.327-38_327-37insCCGTATCATT | gnomAD v2 |
17 | g.47284405_47284406insCCGTATCATTA | CA626378284 | ITGB3 | c.362-38_362-37insCCGTATCATTA (n.362-38_362-37insCCGTATCATTA) c.327-38_327-37insCCGTATCATTA | gnomAD v2 |
17 | g.47284406A= | CA2262605258 | ITGB3 | c.362-37A= (n.362-37A=) c.327-37A= | |
17 | g.47284406A>C | CA626378287 | ITGB3 | c.362-37A>C (n.362-37A>C) c.327-37A>C | dbSNP gnomAD v2 |
17 | g.47284412_47284414del | CA2262605257 | ITGB3 | c.362-31_362-29del (n.362-31_362-29del) c.327-31_327-29del | dbSNP gnomAD v4 |