Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.44372280C>T | CA2840396009 | ITGA2B | c.*84G>A (n.*84G>A) c.2518G>A c.397G>A c.181G>A | |
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.44372311G>C | CA2840396010 | ITGA2B | c.*53C>G (n.*53C>G) c.2487C>G c.366C>G c.150C>G | |
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= | |
17 | g.44372321T>G | CA2261364324 | ITGA2B | c.*43A>C (n.*43A>C) c.2477A>C c.356A>C c.140A>C | dbSNP gnomAD v4 |
17 | g.44372321T= | CA2261364323 | ITGA2B | c.*43A= (n.*43A=) c.2477A= c.356A= c.140A= | |
17 | g.44372323G>T | CA2638213423 | ITGA2B | c.*41C>A (n.*41C>A) c.2475C>A c.354C>A c.138C>A | gnomAD v4 |
17 | g.44372324C>T | CA2733742463 | ITGA2B | c.*40G>A (n.*40G>A) c.2474G>A c.353G>A c.137G>A | dbSNP |
17 | g.44372324dup | CA2840396011 | ITGA2B | c.*40dup (n.*40dup) c.2474dup c.353dup c.137dup | |
17 | g.44372325A>C | CA2638213424 | ITGA2B | c.*39T>G (n.*39T>G) c.2473T>G c.352T>G c.136T>G | gnomAD v4 |
17 | g.44372325A>G | CA2638213425 | ITGA2B | c.*39T>C (n.*39T>C) c.2473T>C c.352T>C c.136T>C | gnomAD v4 |
17 | g.44372326C= | CA2261364325 | ITGA2B | c.*38G= (n.*38G=) c.2472G= c.351G= c.135G= | |
17 | g.44372326C>G | CA2809589676 | ITGA2B | c.*38G>C (n.*38G>C) c.2472G>C c.351G>C c.135G>C | |
17 | g.44372326C>T | CA8602445 | ITGA2B | c.*38G>A (n.*38G>A) c.2472G>A c.351G>A c.135G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372327G>A | CA8602446 | ITGA2B | c.*37C>T (n.*37C>T) c.2471C>T c.350C>T c.134C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372327G= | CA2261364326 | ITGA2B | c.*37C= (n.*37C=) c.2471C= c.350C= c.134C= | |
17 | g.44372327G>T | CA2261364327 | ITGA2B | c.*37C>A (n.*37C>A) c.2471C>A c.350C>A c.134C>A | dbSNP gnomAD v4 |
17 | g.44372327_44372328insA | CA656365619 | ITGA2B | c.*36_*37insT (n.*36_*37insT) c.2470_2471insT c.349_350insT c.133_134insT | |
17 | g.44372328C>T | CA2638213430 | ITGA2B | c.*36G>A (n.*36G>A) c.2470G>A c.349G>A c.133G>A | gnomAD v4 |
17 | g.44372330C>A | CA2840396012 | ITGA2B | c.*34G>T (n.*34G>T) c.2468G>T c.347G>T c.131G>T | |
17 | g.44372330C>G | CA2638213431 | ITGA2B | c.*34G>C (n.*34G>C) c.2468G>C c.347G>C c.131G>C | gnomAD v4 |
17 | g.44372332A= | CA2261364329 | ITGA2B | c.*32T= (n.*32T=) c.2466T= c.345T= c.129T= | |
17 | g.44372332A>C | CA2261364328 | ITGA2B | c.*32T>G (n.*32T>G) c.2466T>G c.345T>G c.129T>G | dbSNP |
17 | g.44372332A>G | CA8602447 | ITGA2B | c.*32T>C (n.*32T>C) c.2466T>C c.345T>C c.129T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372333C>A | CA2638213435 | ITGA2B | c.*31G>T (n.*31G>T) c.2465G>T c.344G>T c.128G>T | gnomAD v4 |
17 | g.44372333C>T | CA2809589677 | ITGA2B | c.*31G>A (n.*31G>A) c.2465G>A c.344G>A c.128G>A | |
17 | g.44372334C= | CA2261364330 | ITGA2B | c.*30G= (n.*30G=) c.2464G= c.343G= c.127G= | |
17 | g.44372334C>T | CA290942693 | ITGA2B | c.*30G>A (n.*30G>A) c.2464G>A c.343G>A c.127G>A | dbSNP |
17 | g.44372335C= | CA2261364331 | ITGA2B | c.*29G= (n.*29G=) c.2463G= c.342G= c.126G= | |
17 | g.44372335C>T | CA8602448 | ITGA2B | c.*29G>A (n.*29G>A) c.2463G>A c.342G>A c.126G>A | dbSNP ExAC |
17 | g.44372336T>C | CA2638213437 | ITGA2B | c.*28A>G (n.*28A>G) c.2462A>G c.341A>G c.125A>G | gnomAD v4 |
17 | g.44372337C>T | CA2638213438 | ITGA2B | c.*27G>A (n.*27G>A) c.2461G>A c.340G>A c.124G>A | gnomAD v4 |
17 | g.44372338C= | CA2261364332 | ITGA2B | c.*26G= (n.*26G=) c.2460G= c.339G= c.123G= | |
17 | g.44372338C>G | CA290942711 | ITGA2B | c.*26G>C (n.*26G>C) c.2460G>C c.339G>C c.123G>C | dbSNP |
17 | g.44372338C>T | CA2261364333 | ITGA2B | c.*26G>A (n.*26G>A) c.2460G>A c.339G>A c.123G>A | dbSNP |
17 | g.44372339T= | CA2261364334 | ITGA2B | c.*25A= (n.*25A=) c.2459A= c.338A= c.122A= | |
17 | g.44372340dup | CA772284485 | ITGA2B | c.*24dup (n.*24dup) c.2458dup c.337dup c.121dup | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372343A= | CA2261364335 | ITGA2B | c.*21T= (n.*21T=) c.2455T= c.334T= c.118T= | |
17 | g.44372343A>G | CA983994058 | ITGA2B | c.*21T>C (n.*21T>C) c.2455T>C c.334T>C c.118T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372346A= | CA2261364336 | ITGA2B | c.*18T= (n.*18T=) c.2452T= c.331T= c.115T= | |
17 | g.44372346A>G | CA8602449 | ITGA2B | c.*18T>C (n.*18T>C) c.2452T>C c.331T>C c.115T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372347T>G | CA2547600405 | ITGA2B | c.*17A>C (n.*17A>C) c.2451A>C c.330A>C c.114A>C | gnomAD v4 |
17 | g.44372349G>A | CA2638213447 | ITGA2B | c.*15C>T (n.*15C>T) c.2449C>T c.328C>T c.112C>T | gnomAD v4 |
17 | g.44372349G>C | CA772284489 | ITGA2B | c.*15C>G (n.*15C>G) c.2449C>G c.328C>G c.112C>G | dbSNP |
17 | g.44372349G= | CA2261364337 | ITGA2B | c.*15C= (n.*15C=) c.2449C= c.328C= c.112C= | |
17 | g.44372350T>C | CA8602450 | ITGA2B | c.*14A>G (n.*14A>G) c.2448A>G c.327A>G c.111A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372350T= | CA2261364338 | ITGA2B | c.*14A= (n.*14A=) c.2448A= c.327A= c.111A= | |
17 | g.44372351G>A | CA626118978 | ITGA2B | c.*13C>T (n.*13C>T) c.2447C>T c.326C>T c.110C>T | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372351G= | CA2261364339 | ITGA2B | c.*13C= (n.*13C=) c.2447C= c.326C= c.110C= | |
17 | g.44372352T>C | CA2576290830 | ITGA2B | c.*12A>G (n.*12A>G) c.2446A>G c.325A>G c.109A>G | |
17 | g.44372355G>A | CA772284497 | ITGA2B | c.*9C>T (n.*9C>T) c.2443C>T c.322C>T c.106C>T | dbSNP gnomAD v4 |
17 | g.44372355G= | CA2261364340 | ITGA2B | c.*9C= (n.*9C=) c.2443C= c.322C= c.106C= | |
17 | g.44372356C>T | CA2638213451 | ITGA2B | c.*8G>A (n.*8G>A) c.2442G>A c.321G>A c.105G>A | gnomAD v4 |
17 | g.44372359C= | CA2261364341 | ITGA2B | c.*5G= (n.*5G=) c.2439G= c.318G= c.102G= | |
17 | g.44372359C>T | CA2261364342 | ITGA2B | c.*5G>A (n.*5G>A) c.2439G>A c.318G>A c.102G>A | dbSNP |
17 | g.44372360A>G | CA2638213452 | ITGA2B | c.*4T>C (n.*4T>C) c.2438T>C c.317T>C c.101T>C | gnomAD v4 |
17 | g.44372362C= | CA2261364343 | ITGA2B | c.*2G= (n.*2G=) c.2436G= c.315G= c.99G= | |
17 | g.44372362C>T | CA2261364344 | ITGA2B | c.*2G>A (n.*2G>A) c.2436G>A c.315G>A c.99G>A | dbSNP |
17 | g.44372363A>G | CA2638213453 | ITGA2B | c.*1T>C (n.*1T>C) c.2435T>C c.314T>C c.98T>C | gnomAD v4 |
17 | g.44372364T>A | CA399787559 | ITGA2B | c.3120A>T (p.Ter1040Cys) c.2434A>T c.313A>T c.97A>T c.3018A>T (p.Ter1006Cys) c.3003A>T (p.Ter1001Cys) | |
17 | g.44372364T>C | CA399787561 | ITGA2B | c.3120A>G (p.Ter1040Trp) c.2434A>G c.313A>G c.97A>G c.3018A>G (p.Ter1006Trp) c.3003A>G (p.Ter1001Trp) | |
17 | g.44372364T>G | CA399787564 | ITGA2B | c.3120A>C (p.Ter1040Cys) c.2434A>C c.313A>C c.97A>C c.3018A>C (p.Ter1006Cys) c.3003A>C (p.Ter1001Cys) | |
17 | g.44372364T= | CA2261364345 | ITGA2B | c.3120A= (p.Ter1040=) c.2434A= c.313A= c.97A= c.3018A= (p.Ter1006=) c.3003A= (p.Ter1001=) | |
17 | g.44372365C>A | CA399787566 | ITGA2B | c.3119G>T (p.Ter1040Leu) c.2433G>T c.312G>T c.96G>T c.3017G>T (p.Ter1006Leu) c.3002G>T (p.Ter1001Leu) | |
17 | g.44372365C>G | CA399787569 | ITGA2B | c.3119G>C (p.Ter1040Ser) c.2433G>C c.312G>C c.96G>C c.3017G>C (p.Ter1006Ser) c.3002G>C (p.Ter1001Ser) | |
17 | g.44372365C>T | CA500260508 | ITGA2B | c.3119G>A (p.Ter1040=) c.2433G>A c.312G>A c.96G>A c.3017G>A (p.Ter1006=) c.3002G>A (p.Ter1001=) | |
17 | g.44372366_44372370dup | CA915940262 | ITGA2B | c.3115_3119dup (p.Ter1040TrpextTer?) c.2429_2433dup c.308_312dup c.92_96dup c.3013_3017dup (p.Ter1006TrpextTer?) c.2998_3002dup (p.Ter1001TrpextTer?) | ClinVar dbSNP |
17 | g.44372366A= | CA2261364346 | ITGA2B | c.3118T= (p.Ter1040=) c.2432T= c.311T= c.95T= c.3016T= (p.Ter1006=) c.3001T= (p.Ter1001=) | |
17 | g.44372366A>C | CA399787576 | ITGA2B | c.3118T>G (p.Ter1040Gly) c.2432T>G c.311T>G c.95T>G c.3016T>G (p.Ter1006Gly) c.3001T>G (p.Ter1001Gly) | dbSNP |
17 | g.44372366A>G | CA399787574 | ITGA2B | c.3118T>C (p.Ter1040Arg) c.2432T>C c.311T>C c.95T>C c.3016T>C (p.Ter1006Arg) c.3001T>C (p.Ter1001Arg) | gnomAD v4 |
17 | g.44372366A>T | CA399787572 | ITGA2B | c.3118T>A (p.Ter1040Arg) c.2432T>A c.311T>A c.95T>A c.3016T>A (p.Ter1006Arg) c.3001T>A (p.Ter1001Arg) | |
17 | g.44372367C>A | CA399787582 | ITGA2B | c.3117G>T (p.Glu1039Asp) c.2431G>T c.310G>T c.94G>T c.3015G>T (p.Glu1005Asp) c.3000G>T (p.Glu1000Asp) | |
17 | g.44372367C= | CA2261364347 | ITGA2B | c.3117G= (p.Glu1039=) c.2431G= c.310G= c.94G= c.3015G= (p.Glu1005=) c.3000G= (p.Glu1000=) | |
17 | g.44372367C>G | CA399787579 | ITGA2B | c.3117G>C (p.Glu1039Asp) c.2431G>C c.310G>C c.94G>C c.3015G>C (p.Glu1005Asp) c.3000G>C (p.Glu1000Asp) | |
17 | g.44372367C>T | CA500260512 | ITGA2B | c.3117G>A (p.Glu1039=) c.2431G>A c.310G>A c.94G>A c.3015G>A (p.Glu1005=) c.3000G>A (p.Glu1000=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372368T>A | CA399787588 | ITGA2B | c.3116A>T (p.Glu1039Val) c.2430A>T c.309A>T c.93A>T c.3014A>T (p.Glu1005Val) c.2999A>T (p.Glu1000Val) | |
17 | g.44372368T>C | CA399787591 | ITGA2B | c.3116A>G (p.Glu1039Gly) c.2430A>G c.309A>G c.93A>G c.3014A>G (p.Glu1005Gly) c.2999A>G (p.Glu1000Gly) | |
17 | g.44372368T>G | CA399787594 | ITGA2B | c.3116A>C (p.Glu1039Ala) c.2430A>C c.309A>C c.93A>C c.3014A>C (p.Glu1005Ala) c.2999A>C (p.Glu1000Ala) | |
17 | g.44372369C>A | CA399787596 | ITGA2B | c.3115G>T (p.Glu1039Ter) c.2429G>T c.308G>T c.92G>T c.3013G>T (p.Glu1005Ter) c.2998G>T (p.Glu1000Ter) | |
17 | g.44372369C>G | CA399787598 | ITGA2B | c.3115G>C (p.Glu1039Gln) c.2429G>C c.308G>C c.92G>C c.3013G>C (p.Glu1005Gln) c.2998G>C (p.Glu1000Gln) | |
17 | g.44372369C>T | CA399787601 | ITGA2B | c.3115G>A (p.Glu1039Lys) c.2429G>A c.308G>A c.92G>A c.3013G>A (p.Glu1005Lys) c.2998G>A (p.Glu1000Lys) | COSMIC |
17 | g.44372370C>A | CA500260520 | ITGA2B | c.3114G>T (p.Gly1038=) c.2428G>T c.307G>T c.91G>T c.3012G>T (p.Gly1004=) c.2997G>T (p.Gly999=) | |
17 | g.44372370C>G | CA500260534 | ITGA2B | c.3114G>C (p.Gly1038=) c.2428G>C c.307G>C c.91G>C c.3012G>C (p.Gly1004=) c.2997G>C (p.Gly999=) | gnomAD v4 |
17 | g.44372370C>T | CA500260536 | ITGA2B | c.3114G>A (p.Gly1038=) c.2428G>A c.307G>A c.91G>A c.3012G>A (p.Gly1004=) c.2997G>A (p.Gly999=) | dbSNP |
17 | g.44372371C>A | CA399787616 | ITGA2B | c.3113G>T (p.Gly1038Val) c.2427G>T c.306G>T c.90G>T c.3011G>T (p.Gly1004Val) c.2996G>T (p.Gly999Val) | |
17 | g.44372371C>G | CA399787619 | ITGA2B | c.3113G>C (p.Gly1038Ala) c.2427G>C c.306G>C c.90G>C c.3011G>C (p.Gly1004Ala) c.2996G>C (p.Gly999Ala) | |
17 | g.44372371C>T | CA399787622 | ITGA2B | c.3113G>A (p.Gly1038Glu) c.2427G>A c.306G>A c.90G>A c.3011G>A (p.Gly1004Glu) c.2996G>A (p.Gly999Glu) | gnomAD v4 |
17 | g.44372372C>A | CA399787627 | ITGA2B | c.3112G>T (p.Gly1038Trp) c.2426G>T c.305G>T c.89G>T c.3010G>T (p.Gly1004Trp) c.2995G>T (p.Gly999Trp) | |
17 | g.44372372C= | CA2261364348 | ITGA2B | c.3112G= (p.Gly1038=) c.2426G= c.305G= c.89G= c.3010G= (p.Gly1004=) c.2995G= (p.Gly999=) | |
17 | g.44372372C>G | CA399787629 | ITGA2B | c.3112G>C (p.Gly1038Arg) c.2426G>C c.305G>C c.89G>C c.3010G>C (p.Gly1004Arg) c.2995G>C (p.Gly999Arg) | gnomAD v4 |
17 | g.44372372C>T | CA399787630 | ITGA2B | c.3112G>A (p.Gly1038Arg) c.2426G>A c.305G>A c.89G>A c.3010G>A (p.Gly1004Arg) c.2995G>A (p.Gly999Arg) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.44372373C>A | CA8602452 | ITGA2B | c.3111G>T (p.Glu1037Asp) c.2425G>T c.304G>T c.88G>T c.3009G>T (p.Glu1003Asp) c.2994G>T (p.Glu998Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372373C= | CA2261364349 | ITGA2B | c.3111G= (p.Glu1037=) c.2425G= c.304G= c.88G= c.3009G= (p.Glu1003=) c.2994G= (p.Glu998=) | |
17 | g.44372373C>G | CA290942765 | ITGA2B | c.3111G>C (p.Glu1037Asp) c.2425G>C c.304G>C c.88G>C c.3009G>C (p.Glu1003Asp) c.2994G>C (p.Glu998Asp) | dbSNP gnomAD v4 |
17 | g.44372373C>T | CA500260554 | ITGA2B | c.3111G>A (p.Glu1037=) c.2425G>A c.304G>A c.88G>A c.3009G>A (p.Glu1003=) c.2994G>A (p.Glu998=) | |
17 | g.44372373_44372376delinsCTCT | CA2261364350 | ITGA2B | c.3108_3111delinsAGAG (p.Glu1036=) c.2422_2425delinsAGAG c.301_304delinsAGAG c.85_88delinsAGAG c.3006_3009delinsAGAG (p.Glu1002=) c.2991_2994delinsAGAG (p.Glu997=) | |
17 | g.44372374T>A | CA399787635 | ITGA2B | c.3110A>T (p.Glu1037Val) c.2424A>T c.303A>T c.87A>T c.3008A>T (p.Glu1003Val) c.2993A>T (p.Glu998Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372374T>C | CA8602453 | ITGA2B | c.3110A>G (p.Glu1037Gly) c.2424A>G c.303A>G c.87A>G c.3008A>G (p.Glu1003Gly) c.2993A>G (p.Glu998Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372374T>G | CA399787640 | ITGA2B | c.3110A>C (p.Glu1037Ala) c.2424A>C c.303A>C c.87A>C c.3008A>C (p.Glu1003Ala) c.2993A>C (p.Glu998Ala) | |
17 | g.44372374T= | CA2261364351 | ITGA2B | c.3110A= (p.Glu1037=) c.2424A= c.303A= c.87A= c.3008A= (p.Glu1003=) c.2993A= (p.Glu998=) | |
17 | g.44372376_44372378del | CA8602451 | ITGA2B | c.3108_3110del (p.Glu1037del) c.2422_2424del c.301_303del c.85_87del c.3006_3008del (p.Glu1003del) c.2991_2993del (p.Glu998del) | dbSNP ExAC |
17 | g.44372375C>A | CA399787646 | ITGA2B | c.3109G>T (p.Glu1037Ter) c.2423G>T c.302G>T c.86G>T c.3007G>T (p.Glu1003Ter) c.2992G>T (p.Glu998Ter) | |
17 | g.44372375C>G | CA399787650 | ITGA2B | c.3109G>C (p.Glu1037Gln) c.2423G>C c.302G>C c.86G>C c.3007G>C (p.Glu1003Gln) c.2992G>C (p.Glu998Gln) | |
17 | g.44372375C>T | CA399787651 | ITGA2B | c.3109G>A (p.Glu1037Lys) c.2423G>A c.302G>A c.86G>A c.3007G>A (p.Glu1003Lys) c.2992G>A (p.Glu998Lys) | COSMIC |
17 | g.44372376T>A | CA399787654 | ITGA2B | c.3108A>T (p.Glu1036Asp) c.2422A>T c.301A>T c.85A>T c.3006A>T (p.Glu1002Asp) c.2991A>T (p.Glu997Asp) | |
17 | g.44372376T>C | CA500260566 | ITGA2B | c.3108A>G (p.Glu1036=) c.2422A>G c.301A>G c.85A>G c.3006A>G (p.Glu1002=) c.2991A>G (p.Glu997=) | |
17 | g.44372376T>G | CA399787656 | ITGA2B | c.3108A>C (p.Glu1036Asp) c.2422A>C c.301A>C c.85A>C c.3006A>C (p.Glu1002Asp) c.2991A>C (p.Glu997Asp) | |
17 | g.44372376_44372379delinsTTCA | CA2261364352 | ITGA2B | c.3105_3108delinsTGAA (p.Asp1035=) c.2419_2422delinsTGAA c.298_301delinsTGAA c.82_85delinsTGAA c.3003_3006delinsTGAA (p.Asp1001=) c.2988_2991delinsTGAA (p.Asp996=) | |
17 | g.44372377T>A | CA399787661 | ITGA2B | c.3107A>T (p.Glu1036Val) c.2421A>T c.300A>T c.84A>T c.3005A>T (p.Glu1002Val) c.2990A>T (p.Glu997Val) | |
17 | g.44372377T>C | CA399787663 | ITGA2B | c.3107A>G (p.Glu1036Gly) c.2421A>G c.300A>G c.84A>G c.3005A>G (p.Glu1002Gly) c.2990A>G (p.Glu997Gly) | |
17 | g.44372377T>G | CA399787664 | ITGA2B | c.3107A>C (p.Glu1036Ala) c.2421A>C c.300A>C c.84A>C c.3005A>C (p.Glu1002Ala) c.2990A>C (p.Glu997Ala) | |
17 | g.44372382_44372384del | CA8602454 | ITGA2B | c.3105_3107del (p.Asp1035del) c.2419_2421del c.298_300del c.82_84del c.3003_3005del (p.Asp1001del) c.2988_2990del (p.Asp996del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372378C>A | CA399787669 | ITGA2B | c.3106G>T (p.Glu1036Ter) c.2420G>T c.299G>T c.83G>T c.3004G>T (p.Glu1002Ter) c.2989G>T (p.Glu997Ter) | |
17 | g.44372378C>G | CA399787670 | ITGA2B | c.3106G>C (p.Glu1036Gln) c.2420G>C c.299G>C c.83G>C c.3004G>C (p.Glu1002Gln) c.2989G>C (p.Glu997Gln) | |
17 | g.44372378C>T | CA399787668 | ITGA2B | c.3106G>A (p.Glu1036Lys) c.2420G>A c.299G>A c.83G>A c.3004G>A (p.Glu1002Lys) c.2989G>A (p.Glu997Lys) | gnomAD v4 |