Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
17 | g.47284407G>A | CA8622938 | ITGB3 | c.362-36G>A (n.362-36G>A) c.327-36G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284407G= | CA2262605259 | ITGB3 | c.362-36G= (n.362-36G=) c.327-36G= | |
17 | g.47284407G>T | CA2638435384 | ITGB3 | c.362-36G>T (n.362-36G>T) c.327-36G>T | gnomAD v4 |
17 | g.47284407_47284408insCCGTATCATTA | CA626378289 | ITGB3 | c.362-36_362-35insCCGTATCATTA (n.362-36_362-35insCCGTATCATTA) c.327-36_327-35insCCGTATCATTA | gnomAD v2 |
17 | g.47284408A= | CA2262605260 | ITGB3 | c.362-35A= (n.362-35A=) c.327-35A= | |
17 | g.47284408A>G | CA8622940 | ITGB3 | c.362-35A>G (n.362-35A>G) c.327-35A>G | dbSNP ExAC gnomAD v2 |
17 | g.47284408A>T | CA8622939 | ITGB3 | c.362-35A>T (n.362-35A>T) c.327-35A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284410G>A | CA626378292 | ITGB3 | c.362-33G>A (n.362-33G>A) c.327-33G>A | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284410G= | CA2262605261 | ITGB3 | c.362-33G= (n.362-33G=) c.327-33G= | |
17 | g.47284411A>G | CA2638435385 | ITGB3 | c.362-32A>G (n.362-32A>G) c.327-32A>G | gnomAD v4 |
17 | g.47284412A= | CA2262605263 | ITGB3 | c.362-31A= (n.362-31A=) c.327-31A= | |
17 | g.47284412A>G | CA291224626 | ITGB3 | c.362-31A>G (n.362-31A>G) c.327-31A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284412A>T | CA2594684419 | ITGB3 | c.362-31A>T (n.362-31A>T) c.327-31A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284412_47284415delinsAGAT | CA2262605262 | ITGB3 | c.362-31_362-28delinsAGAT (n.362-31_362-28delinsAGAT) c.327-31_327-28delinsAGAT | |
17 | g.47284413G>A | CA8622942 | ITGB3 | c.362-30G>A (n.362-30G>A) c.327-30G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284413G= | CA2262605264 | ITGB3 | c.362-30G= (n.362-30G=) c.327-30G= | |
17 | g.47284413_47284415del | CA8622941 | ITGB3 | c.362-30_362-28del (n.362-30_362-28del) c.327-30_327-28del | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.47284414A= | CA2262605265 | ITGB3 | c.362-29A= (n.362-29A=) c.327-29A= | |
17 | g.47284414A>C | CA2638435386 | ITGB3 | c.362-29A>C (n.362-29A>C) c.327-29A>C | gnomAD v4 |
17 | g.47284414A>G | CA8622943 | ITGB3 | c.362-29A>G (n.362-29A>G) c.327-29A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.47284415T>C | CA2638435387 | ITGB3 | c.362-28T>C (n.362-28T>C) c.327-28T>C | gnomAD v4 |
17 | g.47284420dup | CA2576302223 | ITGB3 | c.362-23dup (n.362-23dup) c.327-23dup | |
17 | g.47284420A= | CA2262605266 | ITGB3 | c.362-23A= (n.362-23A=) c.327-23A= | |
17 | g.47284420A>G | CA626378300 | ITGB3 | c.362-23A>G (n.362-23A>G) c.327-23A>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.47284421C>T | CA2638435388 | ITGB3 | c.362-22C>T (n.362-22C>T) c.327-22C>T | gnomAD v4 |
17 | g.47284422T>C | CA291224628 | ITGB3 | c.362-21T>C (n.362-21T>C) c.327-21T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.47284422T= | CA2262605267 | ITGB3 | c.362-21T= (n.362-21T=) c.327-21T= | |
17 | g.47284423A= | CA2262605268 | ITGB3 | c.362-20A= (n.362-20A=) c.327-20A= | |
17 | g.47284423A>G | CA8622944 | ITGB3 | c.362-20A>G (n.362-20A>G) c.327-20A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |