Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.44372266G>ACA290942643ITGA2Bc.*98C>T (n.*98C>T)
c.2532C>T
c.411C>T
c.195C>T
 dbSNP gnomAD v4
17g.44372266G=CA2261364300ITGA2Bc.*98C= (n.*98C=)
c.2532C=
c.411C=
c.195C=
17g.44372266G>TCA2638213346ITGA2Bc.*98C>A (n.*98C>A)
c.2532C>A
c.411C>A
c.195C>A
 gnomAD v4
17g.44372268A>GCA2576290821ITGA2Bc.*96T>C (n.*96T>C)
c.2530T>C
c.409T>C
c.193T>C
 gnomAD v4
17g.44372269C>ACA2638213349ITGA2Bc.*95G>T (n.*95G>T)
c.2529G>T
c.408G>T
c.192G>T
 gnomAD v4
17g.44372269C=CA2261364301ITGA2Bc.*95G= (n.*95G=)
c.2529G=
c.408G=
c.192G=
17g.44372269C>TCA983994033ITGA2Bc.*95G>A (n.*95G>A)
c.2529G>A
c.408G>A
c.192G>A
 dbSNP gnomAD v3 gnomAD v4
17g.44372270A>CCA2638213350ITGA2Bc.*94T>G (n.*94T>G)
c.2528T>G
c.407T>G
c.191T>G
 dbSNP gnomAD v4
17g.44372271G>TCA2576290822ITGA2Bc.*93C>A (n.*93C>A)
c.2527C>A
c.406C>A
c.190C>A
 gnomAD v4
17g.44372272C>ACA2638213353ITGA2Bc.*92G>T (n.*92G>T)
c.2526G>T
c.405G>T
c.189G>T
 gnomAD v4
17g.44372272C>TCA2638213354ITGA2Bc.*92G>A (n.*92G>A)
c.2526G>A
c.405G>A
c.189G>A
 gnomAD v4
17g.44372273T>ACA2638213356ITGA2Bc.*91A>T (n.*91A>T)
c.2525A>T
c.404A>T
c.188A>T
 gnomAD v4
17g.44372273_44372274delinsTCCA2261364302ITGA2Bc.*90_*91delinsGA (n.*90_*91delinsGA)
c.2524_2525delinsGA
c.403_404delinsGA
c.187_188delinsGA
17g.44372274C>ACA2638213359ITGA2Bc.*90G>T (n.*90G>T)
c.2524G>T
c.403G>T
c.187G>T
 gnomAD v4
17g.44372274C>GCA2638213362ITGA2Bc.*90G>C (n.*90G>C)
c.2524G>C
c.403G>C
c.187G>C
 gnomAD v4
17g.44372275delCA626118842ITGA2Bc.*90del (n.*90del)
c.2524del
c.403del
c.187del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44372275C>ACA2638213363ITGA2Bc.*89G>T (n.*89G>T)
c.2523G>T
c.402G>T
c.186G>T
 gnomAD v4
17g.44372275C>TCA2638213364ITGA2Bc.*89G>A (n.*89G>A)
c.2523G>A
c.402G>A
c.186G>A
 gnomAD v4
17g.44372277A>TCA2576290823ITGA2Bc.*87T>A (n.*87T>A)
c.2521T>A
c.400T>A
c.184T>A
17g.44372278C>ACA2638213366ITGA2Bc.*86G>T (n.*86G>T)
c.2520G>T
c.399G>T
c.183G>T
 gnomAD v4
17g.44372278C>TCA2638213367ITGA2Bc.*86G>A (n.*86G>A)
c.2520G>A
c.399G>A
c.183G>A
 gnomAD v4
17g.44372279C>ACA2576290824ITGA2Bc.*85G>T (n.*85G>T)
c.2519G>T
c.398G>T
c.182G>T
17g.44372279C>TCA2638213368ITGA2Bc.*85G>A (n.*85G>A)
c.2519G>A
c.398G>A
c.182G>A
 gnomAD v4
17g.44372280C>ACA2638213370ITGA2Bc.*84G>T (n.*84G>T)
c.2518G>T
c.397G>T
c.181G>T
 gnomAD v4
17g.44372281A>GCA2638213372ITGA2Bc.*83T>C (n.*83T>C)
c.2517T>C
c.396T>C
c.180T>C
 gnomAD v4
17g.44372282A=CA2261364303ITGA2Bc.*82T= (n.*82T=)
c.2516T=
c.395T=
c.179T=
17g.44372282A>GCA290942650ITGA2Bc.*82T>C (n.*82T>C)
c.2516T>C
c.395T>C
c.179T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44372284G>ACA2261364305ITGA2Bc.*80C>T (n.*80C>T)
c.2514C>T
c.393C>T
c.177C>T
 dbSNP
17g.44372284G>CCA2576290825ITGA2Bc.*80C>G (n.*80C>G)
c.2514C>G
c.393C>G
c.177C>G
 gnomAD v4
17g.44372284G=CA2261364304ITGA2Bc.*80C= (n.*80C=)
c.2514C=
c.393C=
c.177C=
17g.44372284G>TCA2638213375ITGA2Bc.*80C>A (n.*80C>A)
c.2514C>A
c.393C>A
c.177C>A
 gnomAD v4
17g.44372285C>TCA2638213378ITGA2Bc.*79G>A (n.*79G>A)
c.2513G>A
c.392G>A
c.176G>A
 gnomAD v4
17g.44372287T>CCA983994039ITGA2Bc.*77A>G (n.*77A>G)
c.2511A>G
c.390A>G
c.174A>G
 dbSNP gnomAD v3 gnomAD v4
17g.44372287T=CA2261364306ITGA2Bc.*77A= (n.*77A=)
c.2511A=
c.390A=
c.174A=
17g.44372288G>ACA772284461ITGA2Bc.*76C>T (n.*76C>T)
c.2510C>T
c.389C>T
c.173C>T
 dbSNP gnomAD v3 gnomAD v4
17g.44372288G=CA2261364307ITGA2Bc.*76C= (n.*76C=)
c.2510C=
c.389C=
c.173C=
17g.44372288G>TCA2638213383ITGA2Bc.*76C>A (n.*76C>A)
c.2510C>A
c.389C>A
c.173C>A
 gnomAD v4
17g.44372289G>ACA2638213385ITGA2Bc.*75C>T (n.*75C>T)
c.2509C>T
c.388C>T
c.172C>T
 gnomAD v4
17g.44372289G>CCA2638213386ITGA2Bc.*75C>G (n.*75C>G)
c.2509C>G
c.388C>G
c.172C>G
 gnomAD v4
17g.44372291G>ACA2638213387ITGA2Bc.*73C>T (n.*73C>T)
c.2507C>T
c.386C>T
c.170C>T
 gnomAD v4
17g.44372291G>TCA2638213388ITGA2Bc.*73C>A (n.*73C>A)
c.2507C>A
c.386C>A
c.170C>A
 gnomAD v4
17g.44372292G>TCA656365613ITGA2Bc.*72C>A (n.*72C>A)
c.2506C>A
c.385C>A
c.169C>A
 COSMIC
17g.44372293C>TCA2638213390ITGA2Bc.*71G>A (n.*71G>A)
c.2505G>A
c.384G>A
c.168G>A
 gnomAD v4
17g.44372294A>GCA2638213391ITGA2Bc.*70T>C (n.*70T>C)
c.2504T>C
c.383T>C
c.167T>C
 gnomAD v4
17g.44372295A>GCA2567477218ITGA2Bc.*69T>C (n.*69T>C)
c.2503T>C
c.382T>C
c.166T>C
 gnomAD v4
17g.44372296C=CA2261364308ITGA2Bc.*68G= (n.*68G=)
c.2502G=
c.381G=
c.165G=
17g.44372296C>GCA290942656ITGA2Bc.*68G>C (n.*68G>C)
c.2502G>C
c.381G>C
c.165G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44372297T>ACA2576290826ITGA2Bc.*67A>T (n.*67A>T)
c.2501A>T
c.380A>T
c.164A>T
17g.44372297T>CCA2576290827ITGA2Bc.*67A>G (n.*67A>G)
c.2501A>G
c.380A>G
c.164A>G
 gnomAD v4
17g.44372300_44372302delCA2638213395ITGA2Bc.*65_*67del (n.*65_*67del)
c.2499_2501del
c.378_380del
c.162_164del
 gnomAD v4
17g.44372299G>ACA983994047ITGA2Bc.*65C>T (n.*65C>T)
c.2499C>T
c.378C>T
c.162C>T
 dbSNP gnomAD v3 gnomAD v4
17g.44372299G=CA2261364309ITGA2Bc.*65C= (n.*65C=)
c.2499C=
c.378C=
c.162C=
17g.44372299G>TCA2576290828ITGA2Bc.*65C>A (n.*65C>A)
c.2499C>A
c.378C>A
c.162C>A
 gnomAD v4
17g.44372300T>CCA2261364311ITGA2Bc.*64A>G (n.*64A>G)
c.2498A>G
c.377A>G
c.161A>G
 dbSNP gnomAD v4
17g.44372300T=CA2261364310ITGA2Bc.*64A= (n.*64A=)
c.2498A=
c.377A=
c.161A=
17g.44372302G>TCA2576290829ITGA2Bc.*62C>A (n.*62C>A)
c.2496C>A
c.375C>A
c.159C>A
 gnomAD v4
17g.44372303G>ACA772284463ITGA2Bc.*61C>T (n.*61C>T)
c.2495C>T
c.374C>T
c.158C>T
 dbSNP gnomAD v4
17g.44372303G=CA2261364312ITGA2Bc.*61C= (n.*61C=)
c.2495C=
c.374C=
c.158C=
17g.44372304A>CCA2638213402ITGA2Bc.*60T>G (n.*60T>G)
c.2494T>G
c.373T>G
c.157T>G
 gnomAD v4
17g.44372305G>TCA2638213404ITGA2Bc.*59C>A (n.*59C>A)
c.2493C>A
c.372C>A
c.156C>A
 gnomAD v4
17g.44372308G>ACA290942658ITGA2Bc.*56C>T (n.*56C>T)
c.2490C>T
c.369C>T
c.153C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.44372308G>CCA2638213407ITGA2Bc.*56C>G (n.*56C>G)
c.2490C>G
c.369C>G
c.153C>G
 gnomAD v4
17g.44372308G=CA2261364313ITGA2Bc.*56C= (n.*56C=)
c.2490C=
c.369C=
c.153C=
17g.44372311delCA2638213406ITGA2Bc.*56del (n.*56del)
c.2490del
c.369del
c.153del
 gnomAD v4
17g.44372309G>CCA2638213410ITGA2Bc.*55C>G (n.*55C>G)
c.2489C>G
c.368C>G
c.152C>G
 gnomAD v4
17g.44372309G=CA2261364314ITGA2Bc.*55C= (n.*55C=)
c.2489C=
c.368C=
c.152C=
17g.44372309G>TCA2261364315ITGA2Bc.*55C>A (n.*55C>A)
c.2489C>A
c.368C>A
c.152C>A
 dbSNP
17g.44372312C=CA2261364316ITGA2Bc.*52G= (n.*52G=)
c.2486G=
c.365G=
c.149G=
17g.44372312C>TCA290942661ITGA2Bc.*52G>A (n.*52G>A)
c.2486G>A
c.365G>A
c.149G>A
 dbSNP gnomAD v3 gnomAD v4
17g.44372313G>ACA8602442ITGA2Bc.*51C>T (n.*51C>T)
c.2485C>T
c.364C>T
c.148C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372313G=CA2261364318ITGA2Bc.*51C= (n.*51C=)
c.2485C=
c.364C=
c.148C=
17g.44372313G>TCA2261364317ITGA2Bc.*51C>A (n.*51C>A)
c.2485C>A
c.364C>A
c.148C>A
 dbSNP gnomAD v3 gnomAD v4
17g.44372314G>ACA2809589671ITGA2Bc.*50C>T (n.*50C>T)
c.2484C>T
c.363C>T
c.147C>T
17g.44372314G>CCA2638213415ITGA2Bc.*50C>G (n.*50C>G)
c.2484C>G
c.363C>G
c.147C>G
 gnomAD v4
17g.44372314G>TCA2638213416ITGA2Bc.*50C>A (n.*50C>A)
c.2484C>A
c.363C>A
c.147C>A
 gnomAD v4
17g.44372316delCA2638213417ITGA2Bc.*48del (n.*48del)
c.2482del
c.361del
c.145del
 gnomAD v4
17g.44372316G>ACA2638213418ITGA2Bc.*48C>T (n.*48C>T)
c.2482C>T
c.361C>T
c.145C>T
 gnomAD v4
17g.44372317C=CA2261364319ITGA2Bc.*47G= (n.*47G=)
c.2481G=
c.360G=
c.144G=
17g.44372317C>TCA8602443ITGA2Bc.*47G>A (n.*47G>A)
c.2481G>A
c.360G>A
c.144G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372318A=CA2261364320ITGA2Bc.*46T= (n.*46T=)
c.2480T=
c.359T=
c.143T=
17g.44372318A>CCA2261364321ITGA2Bc.*46T>G (n.*46T>G)
c.2480T>G
c.359T>G
c.143T>G
 dbSNP gnomAD v4
17g.44372320G>ACA8602444ITGA2Bc.*44C>T (n.*44C>T)
c.2478C>T
c.357C>T
c.141C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372320G=CA2261364322ITGA2Bc.*44C= (n.*44C=)
c.2478C=
c.357C=
c.141C=
17g.44372321T>GCA2261364324ITGA2Bc.*43A>C (n.*43A>C)
c.2477A>C
c.356A>C
c.140A>C
 dbSNP gnomAD v4
17g.44372321T=CA2261364323ITGA2Bc.*43A= (n.*43A=)
c.2477A=
c.356A=
c.140A=
17g.44372323G>TCA2638213423ITGA2Bc.*41C>A (n.*41C>A)
c.2475C>A
c.354C>A
c.138C>A
 gnomAD v4
17g.44372324C>TCA2733742463ITGA2Bc.*40G>A (n.*40G>A)
c.2474G>A
c.353G>A
c.137G>A
 dbSNP
17g.44372325A>CCA2638213424ITGA2Bc.*39T>G (n.*39T>G)
c.2473T>G
c.352T>G
c.136T>G
 gnomAD v4
17g.44372325A>GCA2638213425ITGA2Bc.*39T>C (n.*39T>C)
c.2473T>C
c.352T>C
c.136T>C
 gnomAD v4
17g.44372326C=CA2261364325ITGA2Bc.*38G= (n.*38G=)
c.2472G=
c.351G=
c.135G=
17g.44372326C>GCA2809589676ITGA2Bc.*38G>C (n.*38G>C)
c.2472G>C
c.351G>C
c.135G>C
17g.44372326C>TCA8602445ITGA2Bc.*38G>A (n.*38G>A)
c.2472G>A
c.351G>A
c.135G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372327G>ACA8602446ITGA2Bc.*37C>T (n.*37C>T)
c.2471C>T
c.350C>T
c.134C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372327G=CA2261364326ITGA2Bc.*37C= (n.*37C=)
c.2471C=
c.350C=
c.134C=
17g.44372327G>TCA2261364327ITGA2Bc.*37C>A (n.*37C>A)
c.2471C>A
c.350C>A
c.134C>A
 dbSNP gnomAD v4
17g.44372327_44372328insACA656365619ITGA2Bc.*36_*37insT (n.*36_*37insT)
c.2470_2471insT
c.349_350insT
c.133_134insT
17g.44372328C>TCA2638213430ITGA2Bc.*36G>A (n.*36G>A)
c.2470G>A
c.349G>A
c.133G>A
 gnomAD v4
17g.44372330C>GCA2638213431ITGA2Bc.*34G>C (n.*34G>C)
c.2468G>C
c.347G>C
c.131G>C
 gnomAD v4
17g.44372332A=CA2261364329ITGA2Bc.*32T= (n.*32T=)
c.2466T=
c.345T=
c.129T=
17g.44372332A>CCA2261364328ITGA2Bc.*32T>G (n.*32T>G)
c.2466T>G
c.345T>G
c.129T>G
 dbSNP
17g.44372332A>GCA8602447ITGA2Bc.*32T>C (n.*32T>C)
c.2466T>C
c.345T>C
c.129T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.44372333C>ACA2638213435ITGA2Bc.*31G>T (n.*31G>T)
c.2465G>T
c.344G>T
c.128G>T
 gnomAD v4
17g.44372333C>TCA2809589677ITGA2Bc.*31G>A (n.*31G>A)
c.2465G>A
c.344G>A
c.128G>A
17g.44372334C=CA2261364330ITGA2Bc.*30G= (n.*30G=)
c.2464G=
c.343G=
c.127G=
17g.44372334C>TCA290942693ITGA2Bc.*30G>A (n.*30G>A)
c.2464G>A
c.343G>A
c.127G>A
 dbSNP
17g.44372335C=CA2261364331ITGA2Bc.*29G= (n.*29G=)
c.2463G=
c.342G=
c.126G=
17g.44372335C>TCA8602448ITGA2Bc.*29G>A (n.*29G>A)
c.2463G>A
c.342G>A
c.126G>A
 dbSNP ExAC
17g.44372336T>CCA2638213437ITGA2Bc.*28A>G (n.*28A>G)
c.2462A>G
c.341A>G
c.125A>G
 gnomAD v4
17g.44372337C>TCA2638213438ITGA2Bc.*27G>A (n.*27G>A)
c.2461G>A
c.340G>A
c.124G>A
 gnomAD v4
17g.44372338C=CA2261364332ITGA2Bc.*26G= (n.*26G=)
c.2460G=
c.339G=
c.123G=
17g.44372338C>GCA290942711ITGA2Bc.*26G>C (n.*26G>C)
c.2460G>C
c.339G>C
c.123G>C
 dbSNP
17g.44372338C>TCA2261364333ITGA2Bc.*26G>A (n.*26G>A)
c.2460G>A
c.339G>A
c.123G>A
 dbSNP
17g.44372339T=CA2261364334ITGA2Bc.*25A= (n.*25A=)
c.2459A=
c.338A=
c.122A=
17g.44372340dupCA772284485ITGA2Bc.*24dup (n.*24dup)
c.2458dup
c.337dup
c.121dup
 dbSNP gnomAD v3 gnomAD v4
17g.44372343A=CA2261364335ITGA2Bc.*21T= (n.*21T=)
c.2455T=
c.334T=
c.118T=
17g.44372343A>GCA983994058ITGA2Bc.*21T>C (n.*21T>C)
c.2455T>C
c.334T>C
c.118T>C
 dbSNP gnomAD v3 gnomAD v4
17g.44372346A=CA2261364336ITGA2Bc.*18T= (n.*18T=)
c.2452T=
c.331T=
c.115T=
17g.44372346A>GCA8602449ITGA2Bc.*18T>C (n.*18T>C)
c.2452T>C
c.331T>C
c.115T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372347T>GCA2547600405ITGA2Bc.*17A>C (n.*17A>C)
c.2451A>C
c.330A>C
c.114A>C
 gnomAD v4
17g.44372349G>ACA2638213447ITGA2Bc.*15C>T (n.*15C>T)
c.2449C>T
c.328C>T
c.112C>T
 gnomAD v4
17g.44372349G>CCA772284489ITGA2Bc.*15C>G (n.*15C>G)
c.2449C>G
c.328C>G
c.112C>G
 dbSNP
17g.44372349G=CA2261364337ITGA2Bc.*15C= (n.*15C=)
c.2449C=
c.328C=
c.112C=
17g.44372350T>CCA8602450ITGA2Bc.*14A>G (n.*14A>G)
c.2448A>G
c.327A>G
c.111A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.44372350T=CA2261364338ITGA2Bc.*14A= (n.*14A=)
c.2448A=
c.327A=
c.111A=
17g.44372351G>ACA626118978ITGA2Bc.*13C>T (n.*13C>T)
c.2447C>T
c.326C>T
c.110C>T
 dbSNP gnomAD v2 gnomAD v4
17g.44372351G=CA2261364339ITGA2Bc.*13C= (n.*13C=)
c.2447C=
c.326C=
c.110C=
17g.44372352T>CCA2576290830ITGA2Bc.*12A>G (n.*12A>G)
c.2446A>G
c.325A>G
c.109A>G
17g.44372355G>ACA772284497ITGA2Bc.*9C>T (n.*9C>T)
c.2443C>T
c.322C>T
c.106C>T
 dbSNP gnomAD v4
17g.44372355G=CA2261364340ITGA2Bc.*9C= (n.*9C=)
c.2443C=
c.322C=
c.106C=
17g.44372356C>TCA2638213451ITGA2Bc.*8G>A (n.*8G>A)
c.2442G>A
c.321G>A
c.105G>A
 gnomAD v4
17g.44372359C=CA2261364341ITGA2Bc.*5G= (n.*5G=)
c.2439G=
c.318G=
c.102G=
17g.44372359C>TCA2261364342ITGA2Bc.*5G>A (n.*5G>A)
c.2439G>A
c.318G>A
c.102G>A
 dbSNP
17g.44372360A>GCA2638213452ITGA2Bc.*4T>C (n.*4T>C)
c.2438T>C
c.317T>C
c.101T>C
 gnomAD v4
17g.44372362C=CA2261364343ITGA2Bc.*2G= (n.*2G=)
c.2436G=
c.315G=
c.99G=
17g.44372362C>TCA2261364344ITGA2Bc.*2G>A (n.*2G>A)
c.2436G>A
c.315G>A
c.99G>A
 dbSNP
17g.44372363A>GCA2638213453ITGA2Bc.*1T>C (n.*1T>C)
c.2435T>C
c.314T>C
c.98T>C
 gnomAD v4
17g.44372364T>ACA399787559ITGA2Bc.3120A>T (p.Ter1040Cys)
c.2434A>T
c.313A>T
c.97A>T
c.3018A>T (p.Ter1006Cys)
c.3003A>T (p.Ter1001Cys)
17g.44372364T>CCA399787561ITGA2Bc.3120A>G (p.Ter1040Trp)
c.2434A>G
c.313A>G
c.97A>G
c.3018A>G (p.Ter1006Trp)
c.3003A>G (p.Ter1001Trp)
17g.44372364T>GCA399787564ITGA2Bc.3120A>C (p.Ter1040Cys)
c.2434A>C
c.313A>C
c.97A>C
c.3018A>C (p.Ter1006Cys)
c.3003A>C (p.Ter1001Cys)
17g.44372364T=CA2261364345ITGA2Bc.3120A= (p.Ter1040=)
c.2434A=
c.313A=
c.97A=
c.3018A= (p.Ter1006=)
c.3003A= (p.Ter1001=)
17g.44372365C>ACA399787566ITGA2Bc.3119G>T (p.Ter1040Leu)
c.2433G>T
c.312G>T
c.96G>T
c.3017G>T (p.Ter1006Leu)
c.3002G>T (p.Ter1001Leu)
17g.44372365C>GCA399787569ITGA2Bc.3119G>C (p.Ter1040Ser)
c.2433G>C
c.312G>C
c.96G>C
c.3017G>C (p.Ter1006Ser)
c.3002G>C (p.Ter1001Ser)
17g.44372365C>TCA500260508ITGA2Bc.3119G>A (p.Ter1040=)
c.2433G>A
c.312G>A
c.96G>A
c.3017G>A (p.Ter1006=)
c.3002G>A (p.Ter1001=)
17g.44372366_44372370dupCA915940262ITGA2Bc.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
17g.44372366A=CA2261364346ITGA2Bc.3118T= (p.Ter1040=)
c.2432T=
c.311T=
c.95T=
c.3016T= (p.Ter1006=)
c.3001T= (p.Ter1001=)
17g.44372366A>CCA399787576ITGA2Bc.3118T>G (p.Ter1040Gly)
c.2432T>G
c.311T>G
c.95T>G
c.3016T>G (p.Ter1006Gly)
c.3001T>G (p.Ter1001Gly)
 dbSNP
17g.44372366A>GCA399787574ITGA2Bc.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
17g.44372366A>TCA399787572ITGA2Bc.3118T>A (p.Ter1040Arg)
c.2432T>A
c.311T>A
c.95T>A
c.3016T>A (p.Ter1006Arg)
c.3001T>A (p.Ter1001Arg)

Number of alleles fetched