Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44372220T>G | CA2638213254 | ITGA2B | c.*144A>C (n.*144A>C) c.2578A>C c.457A>C c.241A>C | gnomAD v4 |
17 | g.44372221A>G | CA2638213255 | ITGA2B | c.*143T>C (n.*143T>C) c.2577T>C c.456T>C c.240T>C | gnomAD v4 |
17 | g.44372222G>A | CA2638213257 | ITGA2B | c.*142C>T (n.*142C>T) c.2576C>T c.455C>T c.239C>T | gnomAD v4 |
17 | g.44372222G>T | CA2638213256 | ITGA2B | c.*142C>A (n.*142C>A) c.2576C>A c.455C>A c.239C>A | gnomAD v4 |
17 | g.44372223C>A | CA2638213258 | ITGA2B | c.*141G>T (n.*141G>T) c.2575G>T c.454G>T c.238G>T | gnomAD v4 |
17 | g.44372224C= | CA2261364274 | ITGA2B | c.*140G= (n.*140G=) c.2574G= c.453G= c.237G= | |
17 | g.44372224C>T | CA983994005 | ITGA2B | c.*140G>A (n.*140G>A) c.2574G>A c.453G>A c.237G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372225C>A | CA2638213259 | ITGA2B | c.*139G>T (n.*139G>T) c.2573G>T c.452G>T c.236G>T | gnomAD v4 |
17 | g.44372226A= | CA2261364275 | ITGA2B | c.*138T= (n.*138T=) c.2572T= c.451T= c.235T= | |
17 | g.44372226A>G | CA626118840 | ITGA2B | c.*138T>C (n.*138T>C) c.2572T>C c.451T>C c.235T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372227G>A | CA2261364277 | ITGA2B | c.*137C>T (n.*137C>T) c.2571C>T c.450C>T c.234C>T | dbSNP gnomAD v4 |
17 | g.44372227G= | CA2261364276 | ITGA2B | c.*137C= (n.*137C=) c.2571C= c.450C= c.234C= | |
17 | g.44372227G>T | CA2638213263 | ITGA2B | c.*137C>A (n.*137C>A) c.2571C>A c.450C>A c.234C>A | gnomAD v4 |
17 | g.44372228C>A | CA2638213266 | ITGA2B | c.*136G>T (n.*136G>T) c.2570G>T c.449G>T c.233G>T | gnomAD v4 |
17 | g.44372228C= | CA2261364278 | ITGA2B | c.*136G= (n.*136G=) c.2570G= c.449G= c.233G= | |
17 | g.44372228C>G | CA290942570 | ITGA2B | c.*136G>C (n.*136G>C) c.2570G>C c.449G>C c.233G>C | dbSNP gnomAD v4 |
17 | g.44372229T>C | CA2638213272 | ITGA2B | c.*135A>G (n.*135A>G) c.2569A>G c.448A>G c.232A>G | gnomAD v4 |
17 | g.44372230C>A | CA2638213274 | ITGA2B | c.*134G>T (n.*134G>T) c.2568G>T c.447G>T c.231G>T | gnomAD v4 |
17 | g.44372230C= | CA2261364279 | ITGA2B | c.*134G= (n.*134G=) c.2568G= c.447G= c.231G= | |
17 | g.44372230C>G | CA772284423 | ITGA2B | c.*134G>C (n.*134G>C) c.2568G>C c.447G>C c.231G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372232G>A | CA772284428 | ITGA2B | c.*132C>T (n.*132C>T) c.2566C>T c.445C>T c.229C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372232G>C | CA2638213277 | ITGA2B | c.*132C>G (n.*132C>G) c.2566C>G c.445C>G c.229C>G | gnomAD v4 |
17 | g.44372232G= | CA2261364280 | ITGA2B | c.*132C= (n.*132C=) c.2566C= c.445C= c.229C= | |
17 | g.44372232G>T | CA2638213278 | ITGA2B | c.*132C>A (n.*132C>A) c.2566C>A c.445C>A c.229C>A | gnomAD v4 |
17 | g.44372233T>A | CA2638213282 | ITGA2B | c.*131A>T (n.*131A>T) c.2565A>T c.444A>T c.228A>T | gnomAD v4 |
17 | g.44372233T>C | CA290942575 | ITGA2B | c.*131A>G (n.*131A>G) c.2565A>G c.444A>G c.228A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372233T>G | CA2638213281 | ITGA2B | c.*131A>C (n.*131A>C) c.2565A>C c.444A>C c.228A>C | gnomAD v4 |
17 | g.44372233T= | CA2261364281 | ITGA2B | c.*131A= (n.*131A=) c.2565A= c.444A= c.228A= | |
17 | g.44372234T>C | CA2638213285 | ITGA2B | c.*130A>G (n.*130A>G) c.2564A>G c.443A>G c.227A>G | gnomAD v4 |
17 | g.44372234T>G | CA2638213287 | ITGA2B | c.*130A>C (n.*130A>C) c.2564A>C c.443A>C c.227A>C | gnomAD v4 |
17 | g.44372235G>A | CA290942576 | ITGA2B | c.*129C>T (n.*129C>T) c.2563C>T c.442C>T c.226C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372235G= | CA2261364282 | ITGA2B | c.*129C= (n.*129C=) c.2563C= c.442C= c.226C= | |
17 | g.44372235G>T | CA2638213291 | ITGA2B | c.*129C>A (n.*129C>A) c.2563C>A c.442C>A c.226C>A | gnomAD v4 |
17 | g.44372236G>T | CA2638213293 | ITGA2B | c.*128C>A (n.*128C>A) c.2562C>A c.441C>A c.225C>A | gnomAD v4 |
17 | g.44372237G>T | CA2638213294 | ITGA2B | c.*127C>A (n.*127C>A) c.2561C>A c.440C>A c.224C>A | gnomAD v4 |
17 | g.44372238A>G | CA2638213295 | ITGA2B | c.*126T>C (n.*126T>C) c.2560T>C c.439T>C c.223T>C | gnomAD v4 |
17 | g.44372239G>A | CA2638213296 | ITGA2B | c.*125C>T (n.*125C>T) c.2559C>T c.438C>T c.222C>T | gnomAD v4 |
17 | g.44372239G>T | CA2638213298 | ITGA2B | c.*125C>A (n.*125C>A) c.2559C>A c.438C>A c.222C>A | gnomAD v4 |
17 | g.44372240G>A | CA2809589662 | ITGA2B | c.*124C>T (n.*124C>T) c.2558C>T c.437C>T c.221C>T | |
17 | g.44372241G>A | CA2638213300 | ITGA2B | c.*123C>T (n.*123C>T) c.2557C>T c.436C>T c.220C>T | gnomAD v4 |
17 | g.44372241G= | CA2261364283 | ITGA2B | c.*123C= (n.*123C=) c.2557C= c.436C= c.220C= | |
17 | g.44372241_44372242delinsGA | CA2261364284 | ITGA2B | c.*122_*123delinsTC (n.*122_*123delinsTC) c.2556_2557delinsTC c.435_436delinsTC c.219_220delinsTC | |
17 | g.44372243_44372247del | CA2638213299 | ITGA2B | c.*119_*123del (n.*119_*123del) c.2553_2557del c.432_436del c.216_220del | gnomAD v4 |
17 | g.44372241_44372242insT | CA626118841 | ITGA2B | c.*122_*123insA (n.*122_*123insA) c.2556_2557insA c.435_436insA c.219_220insA | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372242A>G | CA2638213305 | ITGA2B | c.*122T>C (n.*122T>C) c.2556T>C c.435T>C c.219T>C | gnomAD v4 |
17 | g.44372244del | CA2261364285 | ITGA2B | c.*122del (n.*122del) c.2556del c.435del c.219del | dbSNP |
17 | g.44372244A= | CA2261364286 | ITGA2B | c.*120T= (n.*120T=) c.2554T= c.433T= c.217T= | |
17 | g.44372244A>G | CA290942581 | ITGA2B | c.*120T>C (n.*120T>C) c.2554T>C c.433T>C c.217T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372245C= | CA2261364287 | ITGA2B | c.*119G= (n.*119G=) c.2553G= c.432G= c.216G= | |
17 | g.44372245C>G | CA2261364288 | ITGA2B | c.*119G>C (n.*119G>C) c.2553G>C c.432G>C c.216G>C | dbSNP |
17 | g.44372245C>T | CA772284439 | ITGA2B | c.*119G>A (n.*119G>A) c.2553G>A c.432G>A c.216G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372246G>A | CA2261364290 | ITGA2B | c.*118C>T (n.*118C>T) c.2552C>T c.431C>T c.215C>T | dbSNP gnomAD v4 |
17 | g.44372246G= | CA2261364289 | ITGA2B | c.*118C= (n.*118C=) c.2552C= c.431C= c.215C= | |
17 | g.44372246G>T | CA2638213315 | ITGA2B | c.*118C>A (n.*118C>A) c.2552C>A c.431C>A c.215C>A | gnomAD v4 |
17 | g.44372248C>A | CA2638213318 | ITGA2B | c.*116G>T (n.*116G>T) c.2550G>T c.429G>T c.213G>T | gnomAD v4 |
17 | g.44372248C= | CA2261364291 | ITGA2B | c.*116G= (n.*116G=) c.2550G= c.429G= c.213G= | |
17 | g.44372248C>T | CA914179196 | ITGA2B | c.*116G>A (n.*116G>A) c.2550G>A c.429G>A c.213G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372250C>A | CA2638213320 | ITGA2B | c.*114G>T (n.*114G>T) c.2548G>T c.427G>T c.211G>T | gnomAD v4 |
17 | g.44372251C>A | CA2638213322 | ITGA2B | c.*113G>T (n.*113G>T) c.2547G>T c.426G>T c.210G>T | gnomAD v4 |
17 | g.44372251C= | CA2261364292 | ITGA2B | c.*113G= (n.*113G=) c.2547G= c.426G= c.210G= | |
17 | g.44372251C>G | CA290942622 | ITGA2B | c.*113G>C (n.*113G>C) c.2547G>C c.426G>C c.210G>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372251C>T | CA2638213321 | ITGA2B | c.*113G>A (n.*113G>A) c.2547G>A c.426G>A c.210G>A | gnomAD v4 |
17 | g.44372252A= | CA2261364293 | ITGA2B | c.*112T= (n.*112T=) c.2546T= c.425T= c.209T= | |
17 | g.44372252A>G | CA772284445 | ITGA2B | c.*112T>C (n.*112T>C) c.2546T>C c.425T>C c.209T>C | dbSNP |
17 | g.44372253A>G | CA2638213324 | ITGA2B | c.*111T>C (n.*111T>C) c.2545T>C c.424T>C c.208T>C | gnomAD v4 |
17 | g.44372254G>A | CA2638213326 | ITGA2B | c.*110C>T (n.*110C>T) c.2544C>T c.423C>T c.207C>T | gnomAD v4 |
17 | g.44372256G>A | CA2638213328 | ITGA2B | c.*108C>T (n.*108C>T) c.2542C>T c.421C>T c.205C>T | gnomAD v4 |
17 | g.44372257G>T | CA2638213329 | ITGA2B | c.*107C>A (n.*107C>A) c.2541C>A c.420C>A c.204C>A | gnomAD v4 |
17 | g.44372258A= | CA2261364294 | ITGA2B | c.*106T= (n.*106T=) c.2540T= c.419T= c.203T= | |
17 | g.44372258A>G | CA2261364295 | ITGA2B | c.*106T>C (n.*106T>C) c.2540T>C c.419T>C c.203T>C | dbSNP gnomAD v4 |
17 | g.44372259C= | CA2261364296 | ITGA2B | c.*105G= (n.*105G=) c.2539G= c.418G= c.202G= | |
17 | g.44372259C>T | CA290942629 | ITGA2B | c.*105G>A (n.*105G>A) c.2539G>A c.418G>A c.202G>A | dbSNP |
17 | g.44372261C>A | CA2638213331 | ITGA2B | c.*103G>T (n.*103G>T) c.2537G>T c.416G>T c.200G>T | gnomAD v4 |
17 | g.44372262A>G | CA2638213332 | ITGA2B | c.*102T>C (n.*102T>C) c.2536T>C c.415T>C c.199T>C | gnomAD v4 |
17 | g.44372262A>T | CA2638213333 | ITGA2B | c.*102T>A (n.*102T>A) c.2536T>A c.415T>A c.199T>A | gnomAD v4 |
17 | g.44372263A= | CA2261364297 | ITGA2B | c.*101T= (n.*101T=) c.2535T= c.414T= c.198T= | |
17 | g.44372263A>G | CA290942637 | ITGA2B | c.*101T>C (n.*101T>C) c.2535T>C c.414T>C c.198T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372264T>A | CA2638213338 | ITGA2B | c.*100A>T (n.*100A>T) c.2534A>T c.413A>T c.197A>T | gnomAD v4 |
17 | g.44372264T>C | CA772284451 | ITGA2B | c.*100A>G (n.*100A>G) c.2534A>G c.413A>G c.197A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372264T= | CA2261364298 | ITGA2B | c.*100A= (n.*100A=) c.2534A= c.413A= c.197A= | |
17 | g.44372265G>A | CA772284452 | ITGA2B | c.*99C>T (n.*99C>T) c.2533C>T c.412C>T c.196C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372265G= | CA2261364299 | ITGA2B | c.*99C= (n.*99C=) c.2533C= c.412C= c.196C= | |
17 | g.44372265G>T | CA2638213343 | ITGA2B | c.*99C>A (n.*99C>A) c.2533C>A c.412C>A c.196C>A | gnomAD v4 |
17 | g.44372266G>A | CA290942643 | ITGA2B | c.*98C>T (n.*98C>T) c.2532C>T c.411C>T c.195C>T | dbSNP gnomAD v4 |
17 | g.44372266G= | CA2261364300 | ITGA2B | c.*98C= (n.*98C=) c.2532C= c.411C= c.195C= | |
17 | g.44372266G>T | CA2638213346 | ITGA2B | c.*98C>A (n.*98C>A) c.2532C>A c.411C>A c.195C>A | gnomAD v4 |
17 | g.44372268A>G | CA2576290821 | ITGA2B | c.*96T>C (n.*96T>C) c.2530T>C c.409T>C c.193T>C | gnomAD v4 |
17 | g.44372269C>A | CA2638213349 | ITGA2B | c.*95G>T (n.*95G>T) c.2529G>T c.408G>T c.192G>T | gnomAD v4 |
17 | g.44372269C= | CA2261364301 | ITGA2B | c.*95G= (n.*95G=) c.2529G= c.408G= c.192G= | |
17 | g.44372269C>T | CA983994033 | ITGA2B | c.*95G>A (n.*95G>A) c.2529G>A c.408G>A c.192G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372270A>C | CA2638213350 | ITGA2B | c.*94T>G (n.*94T>G) c.2528T>G c.407T>G c.191T>G | dbSNP gnomAD v4 |
17 | g.44372271G>T | CA2576290822 | ITGA2B | c.*93C>A (n.*93C>A) c.2527C>A c.406C>A c.190C>A | gnomAD v4 |
17 | g.44372272C>A | CA2638213353 | ITGA2B | c.*92G>T (n.*92G>T) c.2526G>T c.405G>T c.189G>T | gnomAD v4 |
17 | g.44372272C>T | CA2638213354 | ITGA2B | c.*92G>A (n.*92G>A) c.2526G>A c.405G>A c.189G>A | gnomAD v4 |
17 | g.44372273T>A | CA2638213356 | ITGA2B | c.*91A>T (n.*91A>T) c.2525A>T c.404A>T c.188A>T | gnomAD v4 |
17 | g.44372273_44372274delinsTC | CA2261364302 | ITGA2B | c.*90_*91delinsGA (n.*90_*91delinsGA) c.2524_2525delinsGA c.403_404delinsGA c.187_188delinsGA | |
17 | g.44372274C>A | CA2638213359 | ITGA2B | c.*90G>T (n.*90G>T) c.2524G>T c.403G>T c.187G>T | gnomAD v4 |
17 | g.44372274C>G | CA2638213362 | ITGA2B | c.*90G>C (n.*90G>C) c.2524G>C c.403G>C c.187G>C | gnomAD v4 |
17 | g.44372275del | CA626118842 | ITGA2B | c.*90del (n.*90del) c.2524del c.403del c.187del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372275C>A | CA2638213363 | ITGA2B | c.*89G>T (n.*89G>T) c.2523G>T c.402G>T c.186G>T | gnomAD v4 |
17 | g.44372275C>T | CA2638213364 | ITGA2B | c.*89G>A (n.*89G>A) c.2523G>A c.402G>A c.186G>A | gnomAD v4 |
17 | g.44372277A>T | CA2576290823 | ITGA2B | c.*87T>A (n.*87T>A) c.2521T>A c.400T>A c.184T>A | |
17 | g.44372278C>A | CA2638213366 | ITGA2B | c.*86G>T (n.*86G>T) c.2520G>T c.399G>T c.183G>T | gnomAD v4 |
17 | g.44372278C>T | CA2638213367 | ITGA2B | c.*86G>A (n.*86G>A) c.2520G>A c.399G>A c.183G>A | gnomAD v4 |
17 | g.44372279C>A | CA2576290824 | ITGA2B | c.*85G>T (n.*85G>T) c.2519G>T c.398G>T c.182G>T | |
17 | g.44372279C>T | CA2638213368 | ITGA2B | c.*85G>A (n.*85G>A) c.2519G>A c.398G>A c.182G>A | gnomAD v4 |
17 | g.44372280C>A | CA2638213370 | ITGA2B | c.*84G>T (n.*84G>T) c.2518G>T c.397G>T c.181G>T | gnomAD v4 |
17 | g.44372281A>G | CA2638213372 | ITGA2B | c.*83T>C (n.*83T>C) c.2517T>C c.396T>C c.180T>C | gnomAD v4 |
17 | g.44372282A= | CA2261364303 | ITGA2B | c.*82T= (n.*82T=) c.2516T= c.395T= c.179T= | |
17 | g.44372282A>G | CA290942650 | ITGA2B | c.*82T>C (n.*82T>C) c.2516T>C c.395T>C c.179T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372284G>A | CA2261364305 | ITGA2B | c.*80C>T (n.*80C>T) c.2514C>T c.393C>T c.177C>T | dbSNP |
17 | g.44372284G>C | CA2576290825 | ITGA2B | c.*80C>G (n.*80C>G) c.2514C>G c.393C>G c.177C>G | gnomAD v4 |
17 | g.44372284G= | CA2261364304 | ITGA2B | c.*80C= (n.*80C=) c.2514C= c.393C= c.177C= | |
17 | g.44372284G>T | CA2638213375 | ITGA2B | c.*80C>A (n.*80C>A) c.2514C>A c.393C>A c.177C>A | gnomAD v4 |
17 | g.44372285C>T | CA2638213378 | ITGA2B | c.*79G>A (n.*79G>A) c.2513G>A c.392G>A c.176G>A | gnomAD v4 |
17 | g.44372287T>C | CA983994039 | ITGA2B | c.*77A>G (n.*77A>G) c.2511A>G c.390A>G c.174A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372287T= | CA2261364306 | ITGA2B | c.*77A= (n.*77A=) c.2511A= c.390A= c.174A= | |
17 | g.44372288G>A | CA772284461 | ITGA2B | c.*76C>T (n.*76C>T) c.2510C>T c.389C>T c.173C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372288G= | CA2261364307 | ITGA2B | c.*76C= (n.*76C=) c.2510C= c.389C= c.173C= | |
17 | g.44372288G>T | CA2638213383 | ITGA2B | c.*76C>A (n.*76C>A) c.2510C>A c.389C>A c.173C>A | gnomAD v4 |
17 | g.44372289G>A | CA2638213385 | ITGA2B | c.*75C>T (n.*75C>T) c.2509C>T c.388C>T c.172C>T | gnomAD v4 |
17 | g.44372289G>C | CA2638213386 | ITGA2B | c.*75C>G (n.*75C>G) c.2509C>G c.388C>G c.172C>G | gnomAD v4 |
17 | g.44372291G>A | CA2638213387 | ITGA2B | c.*73C>T (n.*73C>T) c.2507C>T c.386C>T c.170C>T | gnomAD v4 |
17 | g.44372291G>T | CA2638213388 | ITGA2B | c.*73C>A (n.*73C>A) c.2507C>A c.386C>A c.170C>A | gnomAD v4 |
17 | g.44372292G>T | CA656365613 | ITGA2B | c.*72C>A (n.*72C>A) c.2506C>A c.385C>A c.169C>A | COSMIC |
17 | g.44372293C>T | CA2638213390 | ITGA2B | c.*71G>A (n.*71G>A) c.2505G>A c.384G>A c.168G>A | gnomAD v4 |
17 | g.44372294A>G | CA2638213391 | ITGA2B | c.*70T>C (n.*70T>C) c.2504T>C c.383T>C c.167T>C | gnomAD v4 |
17 | g.44372295A>G | CA2567477218 | ITGA2B | c.*69T>C (n.*69T>C) c.2503T>C c.382T>C c.166T>C | gnomAD v4 |
17 | g.44372296C= | CA2261364308 | ITGA2B | c.*68G= (n.*68G=) c.2502G= c.381G= c.165G= | |
17 | g.44372296C>G | CA290942656 | ITGA2B | c.*68G>C (n.*68G>C) c.2502G>C c.381G>C c.165G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372297T>A | CA2576290826 | ITGA2B | c.*67A>T (n.*67A>T) c.2501A>T c.380A>T c.164A>T | |
17 | g.44372297T>C | CA2576290827 | ITGA2B | c.*67A>G (n.*67A>G) c.2501A>G c.380A>G c.164A>G | gnomAD v4 |
17 | g.44372300_44372302del | CA2638213395 | ITGA2B | c.*65_*67del (n.*65_*67del) c.2499_2501del c.378_380del c.162_164del | gnomAD v4 |
17 | g.44372299G>A | CA983994047 | ITGA2B | c.*65C>T (n.*65C>T) c.2499C>T c.378C>T c.162C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372299G= | CA2261364309 | ITGA2B | c.*65C= (n.*65C=) c.2499C= c.378C= c.162C= | |
17 | g.44372299G>T | CA2576290828 | ITGA2B | c.*65C>A (n.*65C>A) c.2499C>A c.378C>A c.162C>A | gnomAD v4 |
17 | g.44372300T>C | CA2261364311 | ITGA2B | c.*64A>G (n.*64A>G) c.2498A>G c.377A>G c.161A>G | dbSNP gnomAD v4 |
17 | g.44372300T= | CA2261364310 | ITGA2B | c.*64A= (n.*64A=) c.2498A= c.377A= c.161A= | |
17 | g.44372302G>T | CA2576290829 | ITGA2B | c.*62C>A (n.*62C>A) c.2496C>A c.375C>A c.159C>A | gnomAD v4 |
17 | g.44372303G>A | CA772284463 | ITGA2B | c.*61C>T (n.*61C>T) c.2495C>T c.374C>T c.158C>T | dbSNP gnomAD v4 |
17 | g.44372303G= | CA2261364312 | ITGA2B | c.*61C= (n.*61C=) c.2495C= c.374C= c.158C= | |
17 | g.44372304A>C | CA2638213402 | ITGA2B | c.*60T>G (n.*60T>G) c.2494T>G c.373T>G c.157T>G | gnomAD v4 |
17 | g.44372305G>T | CA2638213404 | ITGA2B | c.*59C>A (n.*59C>A) c.2493C>A c.372C>A c.156C>A | gnomAD v4 |
17 | g.44372308G>A | CA290942658 | ITGA2B | c.*56C>T (n.*56C>T) c.2490C>T c.369C>T c.153C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372308G>C | CA2638213407 | ITGA2B | c.*56C>G (n.*56C>G) c.2490C>G c.369C>G c.153C>G | gnomAD v4 |
17 | g.44372308G= | CA2261364313 | ITGA2B | c.*56C= (n.*56C=) c.2490C= c.369C= c.153C= | |
17 | g.44372311del | CA2638213406 | ITGA2B | c.*56del (n.*56del) c.2490del c.369del c.153del | gnomAD v4 |
17 | g.44372309G>C | CA2638213410 | ITGA2B | c.*55C>G (n.*55C>G) c.2489C>G c.368C>G c.152C>G | gnomAD v4 |
17 | g.44372309G= | CA2261364314 | ITGA2B | c.*55C= (n.*55C=) c.2489C= c.368C= c.152C= | |
17 | g.44372309G>T | CA2261364315 | ITGA2B | c.*55C>A (n.*55C>A) c.2489C>A c.368C>A c.152C>A | dbSNP |
17 | g.44372312C= | CA2261364316 | ITGA2B | c.*52G= (n.*52G=) c.2486G= c.365G= c.149G= | |
17 | g.44372312C>T | CA290942661 | ITGA2B | c.*52G>A (n.*52G>A) c.2486G>A c.365G>A c.149G>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372313G>A | CA8602442 | ITGA2B | c.*51C>T (n.*51C>T) c.2485C>T c.364C>T c.148C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372313G= | CA2261364318 | ITGA2B | c.*51C= (n.*51C=) c.2485C= c.364C= c.148C= | |
17 | g.44372313G>T | CA2261364317 | ITGA2B | c.*51C>A (n.*51C>A) c.2485C>A c.364C>A c.148C>A | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372314G>A | CA2809589671 | ITGA2B | c.*50C>T (n.*50C>T) c.2484C>T c.363C>T c.147C>T | |
17 | g.44372314G>C | CA2638213415 | ITGA2B | c.*50C>G (n.*50C>G) c.2484C>G c.363C>G c.147C>G | gnomAD v4 |
17 | g.44372314G>T | CA2638213416 | ITGA2B | c.*50C>A (n.*50C>A) c.2484C>A c.363C>A c.147C>A | gnomAD v4 |
17 | g.44372316del | CA2638213417 | ITGA2B | c.*48del (n.*48del) c.2482del c.361del c.145del | gnomAD v4 |
17 | g.44372316G>A | CA2638213418 | ITGA2B | c.*48C>T (n.*48C>T) c.2482C>T c.361C>T c.145C>T | gnomAD v4 |
17 | g.44372317C= | CA2261364319 | ITGA2B | c.*47G= (n.*47G=) c.2481G= c.360G= c.144G= | |
17 | g.44372317C>T | CA8602443 | ITGA2B | c.*47G>A (n.*47G>A) c.2481G>A c.360G>A c.144G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372318A= | CA2261364320 | ITGA2B | c.*46T= (n.*46T=) c.2480T= c.359T= c.143T= | |
17 | g.44372318A>C | CA2261364321 | ITGA2B | c.*46T>G (n.*46T>G) c.2480T>G c.359T>G c.143T>G | dbSNP gnomAD v4 |
17 | g.44372320G>A | CA8602444 | ITGA2B | c.*44C>T (n.*44C>T) c.2478C>T c.357C>T c.141C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372320G= | CA2261364322 | ITGA2B | c.*44C= (n.*44C=) c.2478C= c.357C= c.141C= |