Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44372393G>A | CA500260685 | ITGA2B | c.3091C>T (p.Leu1031=) c.2405C>T c.284C>T c.68C>T c.2989C>T (p.Leu997=) c.2974C>T (p.Leu992=) | gnomAD v3 gnomAD v4 |
17 | g.44372393G>C | CA399787790 | ITGA2B | c.3091C>G (p.Leu1031Val) c.2405C>G c.284C>G c.68C>G c.2989C>G (p.Leu997Val) c.2974C>G (p.Leu992Val) | |
17 | g.44372393G>T | CA399787793 | ITGA2B | c.3091C>A (p.Leu1031Met) c.2405C>A c.284C>A c.68C>A c.2989C>A (p.Leu997Met) c.2974C>A (p.Leu992Met) | |
17 | g.44372396del | CA915940322 | ITGA2B | c.3091del (p.Leu1031TrpfsTer?) c.2405del c.284del c.68del c.2989del (p.Leu997TrpfsTer?) c.2974del (p.Leu992TrpfsTer?) | ClinVar |
17 | g.44372394G>A | CA500260695 | ITGA2B | c.3090C>T (p.Pro1030=) c.2404C>T c.283C>T c.67C>T c.2988C>T (p.Pro996=) c.2973C>T (p.Pro991=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372394G>C | CA500260696 | ITGA2B | c.3090C>G (p.Pro1030=) c.2404C>G c.283C>G c.67C>G c.2988C>G (p.Pro996=) c.2973C>G (p.Pro991=) | ClinVar dbSNP |
17 | g.44372394G= | CA2261364361 | ITGA2B | c.3090C= (p.Pro1030=) c.2404C= c.283C= c.67C= c.2988C= (p.Pro996=) c.2973C= (p.Pro991=) | |
17 | g.44372394G>T | CA500260697 | ITGA2B | c.3090C>A (p.Pro1030=) c.2404C>A c.283C>A c.67C>A c.2988C>A (p.Pro996=) c.2973C>A (p.Pro991=) | |
17 | g.44372395G>A | CA399787795 | ITGA2B | c.3089C>T (p.Pro1030Leu) c.2403C>T c.282C>T c.66C>T c.2987C>T (p.Pro996Leu) c.2972C>T (p.Pro991Leu) | gnomAD v4 |
17 | g.44372395G>C | CA399787798 | ITGA2B | c.3089C>G (p.Pro1030Arg) c.2403C>G c.282C>G c.66C>G c.2987C>G (p.Pro996Arg) c.2972C>G (p.Pro991Arg) | |
17 | g.44372395G>T | CA399787800 | ITGA2B | c.3089C>A (p.Pro1030His) c.2403C>A c.282C>A c.66C>A c.2987C>A (p.Pro996His) c.2972C>A (p.Pro991His) | |
17 | g.44372396G>A | CA8602456 | ITGA2B | c.3088C>T (p.Pro1030Ser) c.2402C>T c.281C>T c.65C>T c.2986C>T (p.Pro996Ser) c.2971C>T (p.Pro991Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372396G>C | CA399787806 | ITGA2B | c.3088C>G (p.Pro1030Ala) c.2402C>G c.281C>G c.65C>G c.2986C>G (p.Pro996Ala) c.2971C>G (p.Pro991Ala) | gnomAD v4 |
17 | g.44372396G= | CA2261364362 | ITGA2B | c.3088C= (p.Pro1030=) c.2402C= c.281C= c.65C= c.2986C= (p.Pro996=) c.2971C= (p.Pro991=) | |
17 | g.44372396G>T | CA399787808 | ITGA2B | c.3088C>A (p.Pro1030Thr) c.2402C>A c.281C>A c.65C>A c.2986C>A (p.Pro996Thr) c.2971C>A (p.Pro991Thr) | gnomAD v4 |
17 | g.44372397T>A | CA500260706 | ITGA2B | c.3087A>T (p.Pro1029=) c.2401A>T c.280A>T c.64A>T c.2985A>T (p.Pro995=) c.2970A>T (p.Pro990=) | |
17 | g.44372397T>C | CA500260709 | ITGA2B | c.3087A>G (p.Pro1029=) c.2401A>G c.280A>G c.64A>G c.2985A>G (p.Pro995=) c.2970A>G (p.Pro990=) | |
17 | g.44372397T>G | CA500260710 | ITGA2B | c.3087A>C (p.Pro1029=) c.2401A>C c.280A>C c.64A>C c.2985A>C (p.Pro995=) c.2970A>C (p.Pro990=) | |
17 | g.44372398G>A | CA399787818 | ITGA2B | c.3086C>T (p.Pro1029Leu) c.2400C>T c.279C>T c.63C>T c.2984C>T (p.Pro995Leu) c.2969C>T (p.Pro990Leu) | |
17 | g.44372398G>C | CA399787815 | ITGA2B | c.3086C>G (p.Pro1029Arg) c.2400C>G c.279C>G c.63C>G c.2984C>G (p.Pro995Arg) c.2969C>G (p.Pro990Arg) | gnomAD v4 |
17 | g.44372398G>T | CA399787813 | ITGA2B | c.3086C>A (p.Pro1029Gln) c.2400C>A c.279C>A c.63C>A c.2984C>A (p.Pro995Gln) c.2969C>A (p.Pro990Gln) | |
17 | g.44372399G>A | CA399787821 | ITGA2B | c.3085C>T (p.Pro1029Ser) c.2399C>T c.278C>T c.62C>T c.2983C>T (p.Pro995Ser) c.2968C>T (p.Pro990Ser) | |
17 | g.44372399G>C | CA399787824 | ITGA2B | c.3085C>G (p.Pro1029Ala) c.2399C>G c.278C>G c.62C>G c.2983C>G (p.Pro995Ala) c.2968C>G (p.Pro990Ala) | |
17 | g.44372399G= | CA2261364363 | ITGA2B | c.3085C= (p.Pro1029=) c.2399C= c.278C= c.62C= c.2983C= (p.Pro995=) c.2968C= (p.Pro990=) | |
17 | g.44372399G>T | CA399787827 | ITGA2B | c.3085C>A (p.Pro1029Thr) c.2399C>A c.278C>A c.62C>A c.2983C>A (p.Pro995Thr) c.2968C>A (p.Pro990Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372400C>A | CA500260721 | ITGA2B | c.3084G>T (p.Arg1028=) c.2398G>T c.277G>T c.61G>T c.2982G>T (p.Arg994=) c.2967G>T (p.Arg989=) | |
17 | g.44372400C>G | CA500260722 | ITGA2B | c.3084G>C (p.Arg1028=) c.2398G>C c.277G>C c.61G>C c.2982G>C (p.Arg994=) c.2967G>C (p.Arg989=) | |
17 | g.44372400C>T | CA500260724 | ITGA2B | c.3084G>A (p.Arg1028=) c.2398G>A c.277G>A c.61G>A c.2982G>A (p.Arg994=) c.2967G>A (p.Arg989=) | COSMIC |
17 | g.44372401C>A | CA399787831 | ITGA2B | c.3083G>T (p.Arg1028Leu) c.2397G>T c.276G>T c.60G>T c.2981G>T (p.Arg994Leu) c.2966G>T (p.Arg989Leu) | |
17 | g.44372401C= | CA2261364364 | ITGA2B | c.3083G= (p.Arg1028=) c.2397G= c.276G= c.60G= c.2981G= (p.Arg994=) c.2966G= (p.Arg989=) | |
17 | g.44372401C>G | CA399787834 | ITGA2B | c.3083G>C (p.Arg1028Pro) c.2397G>C c.276G>C c.60G>C c.2981G>C (p.Arg994Pro) c.2966G>C (p.Arg989Pro) | |
17 | g.44372401C>T | CA8602457 | ITGA2B | c.3083G>A (p.Arg1028Gln) c.2397G>A c.276G>A c.60G>A c.2981G>A (p.Arg994Gln) c.2966G>A (p.Arg989Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372402G>A | CA8602458 | ITGA2B | c.3082C>T (p.Arg1028Trp) c.2396C>T c.275C>T c.59C>T c.2980C>T (p.Arg994Trp) c.2965C>T (p.Arg989Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372402G>C | CA399787837 | ITGA2B | c.3082C>G (p.Arg1028Gly) c.2396C>G c.275C>G c.59C>G c.2980C>G (p.Arg994Gly) c.2965C>G (p.Arg989Gly) | |
17 | g.44372402G= | CA2261364365 | ITGA2B | c.3082C= (p.Arg1028=) c.2396C= c.275C= c.59C= c.2980C= (p.Arg994=) c.2965C= (p.Arg989=) | |
17 | g.44372402G>T | CA500260727 | ITGA2B | c.3082C>A (p.Arg1028=) c.2396C>A c.275C>A c.59C>A c.2980C>A (p.Arg994=) c.2965C>A (p.Arg989=) | |
17 | g.44372403G>A | CA500260732 | ITGA2B | c.3081C>T (p.Asn1027=) c.2395C>T c.274C>T c.58C>T c.2979C>T (p.Asn993=) c.2964C>T (p.Asn988=) | |
17 | g.44372403G>C | CA399787839 | ITGA2B | c.3081C>G (p.Asn1027Lys) c.2395C>G c.274C>G c.58C>G c.2979C>G (p.Asn993Lys) c.2964C>G (p.Asn988Lys) | |
17 | g.44372403G>T | CA399787840 | ITGA2B | c.3081C>A (p.Asn1027Lys) c.2395C>A c.274C>A c.58C>A c.2979C>A (p.Asn993Lys) c.2964C>A (p.Asn988Lys) | |
17 | g.44372404T>A | CA399787842 | ITGA2B | c.3080A>T (p.Asn1027Ile) c.2394A>T c.273A>T c.57A>T c.2978A>T (p.Asn993Ile) c.2963A>T (p.Asn988Ile) | |
17 | g.44372404T>C | CA399787843 | ITGA2B | c.3080A>G (p.Asn1027Ser) c.2394A>G c.273A>G c.57A>G c.2978A>G (p.Asn993Ser) c.2963A>G (p.Asn988Ser) | |
17 | g.44372404T>G | CA399787844 | ITGA2B | c.3080A>C (p.Asn1027Thr) c.2394A>C c.273A>C c.57A>C c.2978A>C (p.Asn993Thr) c.2963A>C (p.Asn988Thr) | |
17 | g.44372405T>A | CA399787849 | ITGA2B | c.3079A>T (p.Asn1027Tyr) c.2393A>T c.272A>T c.56A>T c.2977A>T (p.Asn993Tyr) c.2962A>T (p.Asn988Tyr) | |
17 | g.44372405T>C | CA399787852 | ITGA2B | c.3079A>G (p.Asn1027Asp) c.2393A>G c.272A>G c.56A>G c.2977A>G (p.Asn993Asp) c.2962A>G (p.Asn988Asp) | |
17 | g.44372405T>G | CA399787847 | ITGA2B | c.3079A>C (p.Asn1027His) c.2393A>C c.272A>C c.56A>C c.2977A>C (p.Asn993His) c.2962A>C (p.Asn988His) | |
17 | g.44372406C>A | CA500260746 | ITGA2B | c.3078G>T (p.Arg1026=) c.2392G>T c.271G>T c.55G>T c.2976G>T (p.Arg992=) c.2961G>T (p.Arg987=) | |
17 | g.44372406C>G | CA500260749 | ITGA2B | c.3078G>C (p.Arg1026=) c.2392G>C c.271G>C c.55G>C c.2976G>C (p.Arg992=) c.2961G>C (p.Arg987=) | |
17 | g.44372406C>T | CA500260752 | ITGA2B | c.3078G>A (p.Arg1026=) c.2392G>A c.271G>A c.55G>A c.2976G>A (p.Arg992=) c.2961G>A (p.Arg987=) | COSMIC |
17 | g.44372407C>A | CA399787855 | ITGA2B | c.3077G>T (p.Arg1026Leu) c.2391G>T c.270G>T c.54G>T c.2975G>T (p.Arg992Leu) c.2960G>T (p.Arg987Leu) | ClinVar |
17 | g.44372407C= | CA2261364366 | ITGA2B | c.3077G= (p.Arg1026=) c.2391G= c.270G= c.54G= c.2975G= (p.Arg992=) c.2960G= (p.Arg987=) | |
17 | g.44372407C>G | CA399787853 | ITGA2B | c.3077G>C (p.Arg1026Pro) c.2391G>C c.270G>C c.54G>C c.2975G>C (p.Arg992Pro) c.2960G>C (p.Arg987Pro) | |
17 | g.44372407C>T | CA10575572 | ITGA2B | c.3077G>A (p.Arg1026Gln) c.2391G>A c.270G>A c.54G>A c.2975G>A (p.Arg992Gln) c.2960G>A (p.Arg987Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372407_44372408delinsCG | CA2261364367 | ITGA2B | c.3076_3077delinsCG (p.Arg1026=) c.2390_2391delinsCG c.269_270delinsCG c.53_54delinsCG c.2974_2975delinsCG (p.Arg992=) c.2959_2960delinsCG (p.Arg987=) | |
17 | g.44372407_44372408delinsGC | CA915940802 | ITGA2B | c.3076_3077delinsGC (p.Arg1026Ala) c.2390_2391delinsGC c.269_270delinsGC c.53_54delinsGC c.2974_2975delinsGC (p.Arg992Ala) c.2959_2960delinsGC (p.Arg987Ala) | ClinVar dbSNP |
17 | g.44372408G>A | CA10575573 | ITGA2B | c.3076C>T (p.Arg1026Trp) c.2390C>T c.269C>T c.53C>T c.2974C>T (p.Arg992Trp) c.2959C>T (p.Arg987Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.44372408G>C | CA399787861 | ITGA2B | c.3076C>G (p.Arg1026Gly) c.2390C>G c.269C>G c.53C>G c.2974C>G (p.Arg992Gly) c.2959C>G (p.Arg987Gly) | |
17 | g.44372408G= | CA2261364368 | ITGA2B | c.3076C= (p.Arg1026=) c.2390C= c.269C= c.53C= c.2974C= (p.Arg992=) c.2959C= (p.Arg987=) | |
17 | g.44372408G>T | CA8602459 | ITGA2B | c.3076C>A (p.Arg1026=) c.2390C>A c.269C>A c.53C>A c.2974C>A (p.Arg992=) c.2959C>A (p.Arg987=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372409C>A | CA399787866 | ITGA2B | c.3075G>T (p.Lys1025Asn) c.2389G>T c.268G>T c.52G>T c.2973G>T (p.Lys991Asn) c.2958G>T (p.Lys986Asn) | |
17 | g.44372409C>G | CA399787867 | ITGA2B | c.3075G>C (p.Lys1025Asn) c.2389G>C c.268G>C c.52G>C c.2973G>C (p.Lys991Asn) c.2958G>C (p.Lys986Asn) | |
17 | g.44372409C>T | CA500260767 | ITGA2B | c.3075G>A (p.Lys1025=) c.2389G>A c.268G>A c.52G>A c.2973G>A (p.Lys991=) c.2958G>A (p.Lys986=) | |
17 | g.44372410T>A | CA399787873 | ITGA2B | c.3074A>T (p.Lys1025Met) c.2388A>T c.267A>T c.51A>T c.2972A>T (p.Lys991Met) c.2957A>T (p.Lys986Met) | |
17 | g.44372410T>C | CA399787880 | ITGA2B | c.3074A>G (p.Lys1025Arg) c.2388A>G c.267A>G c.51A>G c.2972A>G (p.Lys991Arg) c.2957A>G (p.Lys986Arg) | |
17 | g.44372410T>G | CA399787883 | ITGA2B | c.3074A>C (p.Lys1025Thr) c.2388A>C c.267A>C c.51A>C c.2972A>C (p.Lys991Thr) c.2957A>C (p.Lys986Thr) | |
17 | g.44372411T>A | CA399787886 | ITGA2B | c.3073A>T (p.Lys1025Ter) c.2387A>T c.266A>T c.50A>T c.2971A>T (p.Lys991Ter) c.2956A>T (p.Lys986Ter) | |
17 | g.44372411T>C | CA399787889 | ITGA2B | c.3073A>G (p.Lys1025Glu) c.2387A>G c.266A>G c.50A>G c.2971A>G (p.Lys991Glu) c.2956A>G (p.Lys986Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372411T>G | CA399787892 | ITGA2B | c.3073A>C (p.Lys1025Gln) c.2387A>C c.266A>C c.50A>C c.2971A>C (p.Lys991Gln) c.2956A>C (p.Lys986Gln) | |
17 | g.44372411T= | CA2261364370 | ITGA2B | c.3073A= (p.Lys1025=) c.2387A= c.266A= c.50A= c.2971A= (p.Lys991=) c.2956A= (p.Lys986=) | |
17 | g.44372411_44372414delinsTGAA | CA2261364369 | ITGA2B | c.3070_3073delinsTTCA (p.Phe1024=) c.2384_2387delinsTTCA c.263_266delinsTTCA c.47_50delinsTTCA c.2968_2971delinsTTCA (p.Phe990=) c.2953_2956delinsTTCA (p.Phe985=) | |
17 | g.44372412G>A | CA500260789 | ITGA2B | c.3072C>T (p.Phe1024=) c.2386C>T c.265C>T c.49C>T c.2970C>T (p.Phe990=) c.2955C>T (p.Phe985=) | |
17 | g.44372412G>C | CA399787894 | ITGA2B | c.3072C>G (p.Phe1024Leu) c.2386C>G c.265C>G c.49C>G c.2970C>G (p.Phe990Leu) c.2955C>G (p.Phe985Leu) | |
17 | g.44372412G>T | CA399787895 | ITGA2B | c.3072C>A (p.Phe1024Leu) c.2386C>A c.265C>A c.49C>A c.2970C>A (p.Phe990Leu) c.2955C>A (p.Phe985Leu) | |
17 | g.44372416_44372418del | CA8602460 | ITGA2B | c.3070_3072del (p.Phe1024del) c.2384_2386del c.263_265del c.47_49del c.2968_2970del (p.Phe990del) c.2953_2955del (p.Phe985del) | dbSNP ExAC gnomAD v2 |
17 | g.44372413A>C | CA399787902 | ITGA2B | c.3071T>G (p.Phe1024Cys) c.2385T>G c.264T>G c.48T>G c.2969T>G (p.Phe990Cys) c.2954T>G (p.Phe985Cys) | |
17 | g.44372413A>G | CA399787897 | ITGA2B | c.3071T>C (p.Phe1024Ser) c.2385T>C c.264T>C c.48T>C c.2969T>C (p.Phe990Ser) c.2954T>C (p.Phe985Ser) | |
17 | g.44372413A>T | CA399787899 | ITGA2B | c.3071T>A (p.Phe1024Tyr) c.2385T>A c.264T>A c.48T>A c.2969T>A (p.Phe990Tyr) c.2954T>A (p.Phe985Tyr) | |
17 | g.44372414A= | CA2261364371 | ITGA2B | c.3070T= (p.Phe1024=) c.2384T= c.263T= c.47T= c.2968T= (p.Phe990=) c.2953T= (p.Phe985=) | |
17 | g.44372414A>C | CA399787905 | ITGA2B | c.3070T>G (p.Phe1024Val) c.2384T>G c.263T>G c.47T>G c.2968T>G (p.Phe990Val) c.2953T>G (p.Phe985Val) | |
17 | g.44372414A>G | CA399787907 | ITGA2B | c.3070T>C (p.Phe1024Leu) c.2384T>C c.263T>C c.47T>C c.2968T>C (p.Phe990Leu) c.2953T>C (p.Phe985Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372414A>T | CA399787909 | ITGA2B | c.3070T>A (p.Phe1024Ile) c.2384T>A c.263T>A c.47T>A c.2968T>A (p.Phe990Ile) c.2953T>A (p.Phe985Ile) | ClinVar |
17 | g.44372415G>A | CA500260800 | ITGA2B | c.3069C>T (p.Phe1023=) c.2383C>T c.262C>T c.46C>T c.2967C>T (p.Phe989=) c.2952C>T (p.Phe984=) | |
17 | g.44372415G>C | CA399787913 | ITGA2B | c.3069C>G (p.Phe1023Leu) c.2383C>G c.262C>G c.46C>G c.2967C>G (p.Phe989Leu) c.2952C>G (p.Phe984Leu) | |
17 | g.44372415G>T | CA399787916 | ITGA2B | c.3069C>A (p.Phe1023Leu) c.2383C>A c.262C>A c.46C>A c.2967C>A (p.Phe989Leu) c.2952C>A (p.Phe984Leu) | |
17 | g.44372416A>C | CA399787918 | ITGA2B | c.3068T>G (p.Phe1023Cys) c.2382T>G c.261T>G c.45T>G c.2966T>G (p.Phe989Cys) c.2951T>G (p.Phe984Cys) | |
17 | g.44372416A>G | CA399787922 | ITGA2B | c.3068T>C (p.Phe1023Ser) c.2382T>C c.261T>C c.45T>C c.2966T>C (p.Phe989Ser) c.2951T>C (p.Phe984Ser) | |
17 | g.44372416A>T | CA399787925 | ITGA2B | c.3068T>A (p.Phe1023Tyr) c.2382T>A c.261T>A c.45T>A c.2966T>A (p.Phe989Tyr) c.2951T>A (p.Phe984Tyr) | |
17 | g.44372417A>C | CA399787931 | ITGA2B | c.3067T>G (p.Phe1023Val) c.2381T>G c.260T>G c.44T>G c.2965T>G (p.Phe989Val) c.2950T>G (p.Phe984Val) | |
17 | g.44372417A>G | CA399787933 | ITGA2B | c.3067T>C (p.Phe1023Leu) c.2381T>C c.260T>C c.44T>C c.2965T>C (p.Phe989Leu) c.2950T>C (p.Phe984Leu) | |
17 | g.44372417A>T | CA399787935 | ITGA2B | c.3067T>A (p.Phe1023Ile) c.2381T>A c.260T>A c.44T>A c.2965T>A (p.Phe989Ile) c.2950T>A (p.Phe984Ile) | |
17 | g.44372418G>A | CA500260815 | ITGA2B | c.3066C>T (p.Gly1022=) c.2380C>T c.259C>T c.43C>T c.2964C>T (p.Gly988=) c.2949C>T (p.Gly983=) | |
17 | g.44372418G>C | CA500260817 | ITGA2B | c.3066C>G (p.Gly1022=) c.2380C>G c.259C>G c.43C>G c.2964C>G (p.Gly988=) c.2949C>G (p.Gly983=) | |
17 | g.44372418G>T | CA500260816 | ITGA2B | c.3066C>A (p.Gly1022=) c.2380C>A c.259C>A c.43C>A c.2964C>A (p.Gly988=) c.2949C>A (p.Gly983=) | |
17 | g.44372419C>A | CA399787941 | ITGA2B | c.3065G>T (p.Gly1022Val) c.2379G>T c.258G>T c.42G>T c.2963G>T (p.Gly988Val) c.2948G>T (p.Gly983Val) | |
17 | g.44372419C>G | CA399787942 | ITGA2B | c.3065G>C (p.Gly1022Ala) c.2379G>C c.258G>C c.42G>C c.2963G>C (p.Gly988Ala) c.2948G>C (p.Gly983Ala) | gnomAD v4 |
17 | g.44372419C>T | CA399787940 | ITGA2B | c.3065G>A (p.Gly1022Asp) c.2379G>A c.258G>A c.42G>A c.2963G>A (p.Gly988Asp) c.2948G>A (p.Gly983Asp) | |
17 | g.44372420C>A | CA399787943 | ITGA2B | c.3064G>T (p.Gly1022Cys) c.2378G>T c.257G>T c.41G>T c.2962G>T (p.Gly988Cys) c.2947G>T (p.Gly983Cys) | |
17 | g.44372420C= | CA2261364372 | ITGA2B | c.3064G= (p.Gly1022=) c.2378G= c.257G= c.41G= c.2962G= (p.Gly988=) c.2947G= (p.Gly983=) | |
17 | g.44372420C>G | CA399787944 | ITGA2B | c.3064G>C (p.Gly1022Arg) c.2378G>C c.257G>C c.41G>C c.2962G>C (p.Gly988Arg) c.2947G>C (p.Gly983Arg) | dbSNP |
17 | g.44372420C>T | CA399787952 | ITGA2B | c.3064G>A (p.Gly1022Ser) c.2378G>A c.257G>A c.41G>A c.2962G>A (p.Gly988Ser) c.2947G>A (p.Gly983Ser) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.44372421del | CA645584247 | ITGA2B | c.3063del (p.Gly1022AlafsTer?) c.2377del c.256del c.40del c.2961del (p.Gly988AlafsTer?) c.2946del (p.Gly983AlafsTer?) | gnomAD v4 COSMIC |
17 | g.44372421G>A | CA8602461 | ITGA2B | c.3063C>T (p.Val1021=) c.2377C>T c.256C>T c.40C>T c.2961C>T (p.Val987=) c.2946C>T (p.Val982=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372421G>C | CA500260836 | ITGA2B | c.3063C>G (p.Val1021=) c.2377C>G c.256C>G c.40C>G c.2961C>G (p.Val987=) c.2946C>G (p.Val982=) | |
17 | g.44372421G= | CA2261364373 | ITGA2B | c.3063C= (p.Val1021=) c.2377C= c.256C= c.40C= c.2961C= (p.Val987=) c.2946C= (p.Val982=) | |
17 | g.44372421G>T | CA500260838 | ITGA2B | c.3063C>A (p.Val1021=) c.2377C>A c.256C>A c.40C>A c.2961C>A (p.Val987=) c.2946C>A (p.Val982=) | dbSNP gnomAD v4 |
17 | g.44372422A>C | CA399787954 | ITGA2B | c.3062T>G (p.Val1021Gly) c.2376T>G c.255T>G c.39T>G c.2960T>G (p.Val987Gly) c.2945T>G (p.Val982Gly) | |
17 | g.44372422A>G | CA399787956 | ITGA2B | c.3062T>C (p.Val1021Ala) c.2376T>C c.255T>C c.39T>C c.2960T>C (p.Val987Ala) c.2945T>C (p.Val982Ala) | ClinVar dbSNP |
17 | g.44372422A>T | CA399787958 | ITGA2B | c.3062T>A (p.Val1021Asp) c.2376T>A c.255T>A c.39T>A c.2960T>A (p.Val987Asp) c.2945T>A (p.Val982Asp) | |
17 | g.44372423C>A | CA8602462 | ITGA2B | c.3061G>T (p.Val1021Phe) c.2375G>T c.254G>T c.38G>T c.2959G>T (p.Val987Phe) c.2944G>T (p.Val982Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372423C= | CA2261364374 | ITGA2B | c.3061G= (p.Val1021=) c.2375G= c.254G= c.38G= c.2959G= (p.Val987=) c.2944G= (p.Val982=) | |
17 | g.44372423C>G | CA399787962 | ITGA2B | c.3061G>C (p.Val1021Leu) c.2375G>C c.254G>C c.38G>C c.2959G>C (p.Val987Leu) c.2944G>C (p.Val982Leu) | |
17 | g.44372423C>T | CA399787966 | ITGA2B | c.3061G>A (p.Val1021Ile) c.2375G>A c.254G>A c.38G>A c.2959G>A (p.Val987Ile) c.2944G>A (p.Val982Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372424C>A | CA399787969 | ITGA2B | c.3061-1G>T (n.3061-1G>T) c.2375-1G>T c.254-1G>T c.38-1G>T c.2959-1G>T (n.2959-1G>T) c.2944-1G>T (n.2944-1G>T) | |
17 | g.44372424C>G | CA399787971 | ITGA2B | c.3061-1G>C (n.3061-1G>C) c.2375-1G>C c.254-1G>C c.38-1G>C c.2959-1G>C (n.2959-1G>C) c.2944-1G>C (n.2944-1G>C) | gnomAD v4 |
17 | g.44372424C>T | CA399787972 | ITGA2B | c.3061-1G>A (n.3061-1G>A) c.2375-1G>A c.254-1G>A c.38-1G>A c.2959-1G>A (n.2959-1G>A) c.2944-1G>A (n.2944-1G>A) | ClinVar gnomAD v4 |
17 | g.44372425T>A | CA399787977 | ITGA2B | c.3061-2A>T (n.3061-2A>T) c.2375-2A>T c.254-2A>T c.38-2A>T c.2959-2A>T (n.2959-2A>T) c.2944-2A>T (n.2944-2A>T) | |
17 | g.44372425T>C | CA399787975 | ITGA2B | c.3061-2A>G (n.3061-2A>G) c.2375-2A>G c.254-2A>G c.38-2A>G c.2959-2A>G (n.2959-2A>G) c.2944-2A>G (n.2944-2A>G) | |
17 | g.44372425T>G | CA399787973 | ITGA2B | c.3061-2A>C (n.3061-2A>C) c.2375-2A>C c.254-2A>C c.38-2A>C c.2959-2A>C (n.2959-2A>C) c.2944-2A>C (n.2944-2A>C) | |
17 | g.44372425_44372426delinsTG | CA2261364375 | ITGA2B | c.3061-3_3061-2delinsCA (n.3061-3_3061-2delinsCA) c.2375-3_2375-2delinsCA c.254-3_254-2delinsCA c.38-3_38-2delinsCA c.2959-3_2959-2delinsCA (n.2959-3_2959-2delinsCA) c.2944-3_2944-2delinsCA (n.2944-3_2944-2delinsCA) | |
17 | g.44372426G>A | CA8602463 | ITGA2B | c.3061-3C>T (n.3061-3C>T) c.2375-3C>T c.254-3C>T c.38-3C>T c.2959-3C>T (n.2959-3C>T) c.2944-3C>T (n.2944-3C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372426G= | CA2261364376 | ITGA2B | c.3061-3C= (n.3061-3C=) c.2375-3C= c.254-3C= c.38-3C= c.2959-3C= (n.2959-3C=) c.2944-3C= (n.2944-3C=) | |
17 | g.44372430del | CA626119012 | ITGA2B | c.3061-3del (n.3061-3del) c.2375-3del c.254-3del c.38-3del c.2959-3del (n.2959-3del) c.2944-3del (n.2944-3del) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372427G>A | CA8602464 | ITGA2B | c.3061-4C>T (n.3061-4C>T) c.2375-4C>T c.254-4C>T c.38-4C>T c.2959-4C>T (n.2959-4C>T) c.2944-4C>T (n.2944-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372427G= | CA2261364377 | ITGA2B | c.3061-4C= (n.3061-4C=) c.2375-4C= c.254-4C= c.38-4C= c.2959-4C= (n.2959-4C=) c.2944-4C= (n.2944-4C=) | |
17 | g.44372427G>T | CA2638212670 | ITGA2B | c.3061-4C>A (n.3061-4C>A) c.2375-4C>A c.254-4C>A c.38-4C>A c.2959-4C>A (n.2959-4C>A) c.2944-4C>A (n.2944-4C>A) | dbSNP gnomAD v4 |
17 | g.44372428G>A | CA8602465 | ITGA2B | c.3061-5C>T (n.3061-5C>T) c.2375-5C>T c.254-5C>T c.38-5C>T c.2959-5C>T (n.2959-5C>T) c.2944-5C>T (n.2944-5C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372428G= | CA2261364378 | ITGA2B | c.3061-5C= (n.3061-5C=) c.2375-5C= c.254-5C= c.38-5C= c.2959-5C= (n.2959-5C=) c.2944-5C= (n.2944-5C=) | |
17 | g.44372428G>T | CA2261364379 | ITGA2B | c.3061-5C>A (n.3061-5C>A) c.2375-5C>A c.254-5C>A c.38-5C>A c.2959-5C>A (n.2959-5C>A) c.2944-5C>A (n.2944-5C>A) | dbSNP gnomAD v4 |
17 | g.44372429G>A | CA626119018 | ITGA2B | c.3061-6C>T (n.3061-6C>T) c.2375-6C>T c.254-6C>T c.38-6C>T c.2959-6C>T (n.2959-6C>T) c.2944-6C>T (n.2944-6C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372429G>C | CA915940801 | ITGA2B | c.3061-6C>G (n.3061-6C>G) c.2375-6C>G c.254-6C>G c.38-6C>G c.2959-6C>G (n.2959-6C>G) c.2944-6C>G (n.2944-6C>G) | ClinVar gnomAD v4 |
17 | g.44372429G= | CA2261364380 | ITGA2B | c.3061-6C= (n.3061-6C=) c.2375-6C= c.254-6C= c.38-6C= c.2959-6C= (n.2959-6C=) c.2944-6C= (n.2944-6C=) | |
17 | g.44372430G>A | CA626119033 | ITGA2B | c.3061-7C>T (n.3061-7C>T) c.2375-7C>T c.254-7C>T c.38-7C>T c.2959-7C>T (n.2959-7C>T) c.2944-7C>T (n.2944-7C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372430G>C | CA290942869 | ITGA2B | c.3061-7C>G (n.3061-7C>G) c.2375-7C>G c.254-7C>G c.38-7C>G c.2959-7C>G (n.2959-7C>G) c.2944-7C>G (n.2944-7C>G) | ClinVar dbSNP |
17 | g.44372430G= | CA2261364381 | ITGA2B | c.3061-7C= (n.3061-7C=) c.2375-7C= c.254-7C= c.38-7C= c.2959-7C= (n.2959-7C=) c.2944-7C= (n.2944-7C=) | |
17 | g.44372430G>T | CA8602466 | ITGA2B | c.3061-7C>A (n.3061-7C>A) c.2375-7C>A c.254-7C>A c.38-7C>A c.2959-7C>A (n.2959-7C>A) c.2944-7C>A (n.2944-7C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372431T>C | CA2576290831 | ITGA2B | c.3061-8A>G (n.3061-8A>G) c.2375-8A>G c.254-8A>G c.38-8A>G c.2959-8A>G (n.2959-8A>G) c.2944-8A>G (n.2944-8A>G) | |
17 | g.44372431T>G | CA2638212691 | ITGA2B | c.3061-8A>C (n.3061-8A>C) c.2375-8A>C c.254-8A>C c.38-8A>C c.2959-8A>C (n.2959-8A>C) c.2944-8A>C (n.2944-8A>C) | gnomAD v4 |
17 | g.44372432A>G | CA2576290832 | ITGA2B | c.3061-9T>C (n.3061-9T>C) c.2375-9T>C c.254-9T>C c.38-9T>C c.2959-9T>C (n.2959-9T>C) c.2944-9T>C (n.2944-9T>C) | |
17 | g.44372433C>G | CA2638212696 | ITGA2B | c.3061-10G>C (n.3061-10G>C) c.2375-10G>C c.254-10G>C c.38-10G>C c.2959-10G>C (n.2959-10G>C) c.2944-10G>C (n.2944-10G>C) | gnomAD v4 |
17 | g.44372434A= | CA2261364382 | ITGA2B | c.3061-11T= (n.3061-11T=) c.2375-11T= c.254-11T= c.38-11T= c.2959-11T= (n.2959-11T=) c.2944-11T= (n.2944-11T=) | |
17 | g.44372434A>G | CA2261364383 | ITGA2B | c.3061-11T>C (n.3061-11T>C) c.2375-11T>C c.254-11T>C c.38-11T>C c.2959-11T>C (n.2959-11T>C) c.2944-11T>C (n.2944-11T>C) | dbSNP gnomAD v4 |
17 | g.44372434_44372435insGAGTTGGGGTGGTAGGTGTAACAGAAGACGGAGAGCC | CA2809589679 | ITGA2B | c.3061-12_3061-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC (n.3061-12_3061-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC) c.2375-12_2375-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC c.254-12_254-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC c.38-12_38-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC c.2959-12_2959-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC (n.2959-12_2959-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC) c.2944-12_2944-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC (n.2944-12_2944-11insGGCTCTCCGTCTTCTGTTACACCTACCACCCCAACTC) | |
17 | g.44372435C= | CA2261364384 | ITGA2B | c.3061-12G= (n.3061-12G=) c.2375-12G= c.254-12G= c.38-12G= c.2959-12G= (n.2959-12G=) c.2944-12G= (n.2944-12G=) | |
17 | g.44372435C>T | CA8602467 | ITGA2B | c.3061-12G>A (n.3061-12G>A) c.2375-12G>A c.254-12G>A c.38-12G>A c.2959-12G>A (n.2959-12G>A) c.2944-12G>A (n.2944-12G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372436G>A | CA8602468 | ITGA2B | c.3061-13C>T (n.3061-13C>T) c.2375-13C>T c.254-13C>T c.38-13C>T c.2959-13C>T (n.2959-13C>T) c.2944-13C>T (n.2944-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372436G>C | CA2638212704 | ITGA2B | c.3061-13C>G (n.3061-13C>G) c.2375-13C>G c.254-13C>G c.38-13C>G c.2959-13C>G (n.2959-13C>G) c.2944-13C>G (n.2944-13C>G) | gnomAD v4 |
17 | g.44372436G= | CA2261364385 | ITGA2B | c.3061-13C= (n.3061-13C=) c.2375-13C= c.254-13C= c.38-13C= c.2959-13C= (n.2959-13C=) c.2944-13C= (n.2944-13C=) | |
17 | g.44372437G>C | CA8602469 | ITGA2B | c.3061-14C>G (n.3061-14C>G) c.2375-14C>G c.254-14C>G c.38-14C>G c.2959-14C>G (n.2959-14C>G) c.2944-14C>G (n.2944-14C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372437G= | CA2261364386 | ITGA2B | c.3061-14C= (n.3061-14C=) c.2375-14C= c.254-14C= c.38-14C= c.2959-14C= (n.2959-14C=) c.2944-14C= (n.2944-14C=) | |
17 | g.44372438G>A | CA2638212711 | ITGA2B | c.3061-15C>T (n.3061-15C>T) c.2375-15C>T c.254-15C>T c.38-15C>T c.2959-15C>T (n.2959-15C>T) c.2944-15C>T (n.2944-15C>T) | gnomAD v4 |
17 | g.44372438G>C | CA2576290833 | ITGA2B | c.3061-15C>G (n.3061-15C>G) c.2375-15C>G c.254-15C>G c.38-15C>G c.2959-15C>G (n.2959-15C>G) c.2944-15C>G (n.2944-15C>G) | |
17 | g.44372439G>A | CA2638212715 | ITGA2B | c.3061-16C>T (n.3061-16C>T) c.2375-16C>T c.254-16C>T c.38-16C>T c.2959-16C>T (n.2959-16C>T) c.2944-16C>T (n.2944-16C>T) | gnomAD v4 |
17 | g.44372440G>A | CA2261364388 | ITGA2B | c.3061-17C>T (n.3061-17C>T) c.2375-17C>T c.254-17C>T c.38-17C>T c.2959-17C>T (n.2959-17C>T) c.2944-17C>T (n.2944-17C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372440G= | CA2261364387 | ITGA2B | c.3061-17C= (n.3061-17C=) c.2375-17C= c.254-17C= c.38-17C= c.2959-17C= (n.2959-17C=) c.2944-17C= (n.2944-17C=) | |
17 | g.44372440G>T | CA2638212719 | ITGA2B | c.3061-17C>A (n.3061-17C>A) c.2375-17C>A c.254-17C>A c.38-17C>A c.2959-17C>A (n.2959-17C>A) c.2944-17C>A (n.2944-17C>A) | gnomAD v4 |
17 | g.44372441C= | CA2261364389 | ITGA2B | c.3061-18G= (n.3061-18G=) c.2375-18G= c.254-18G= c.38-18G= c.2959-18G= (n.2959-18G=) c.2944-18G= (n.2944-18G=) | |
17 | g.44372441C>T | CA8602470 | ITGA2B | c.3061-18G>A (n.3061-18G>A) c.2375-18G>A c.254-18G>A c.38-18G>A c.2959-18G>A (n.2959-18G>A) c.2944-18G>A (n.2944-18G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.44372443A>C | CA2638212734 | ITGA2B | c.3061-20T>G (n.3061-20T>G) c.2375-20T>G c.254-20T>G c.38-20T>G c.2959-20T>G (n.2959-20T>G) c.2944-20T>G (n.2944-20T>G) | gnomAD v4 |
17 | g.44372443A>G | CA2638212735 | ITGA2B | c.3061-20T>C (n.3061-20T>C) c.2375-20T>C c.254-20T>C c.38-20T>C c.2959-20T>C (n.2959-20T>C) c.2944-20T>C (n.2944-20T>C) | gnomAD v4 |
17 | g.44372444A= | CA2261364390 | ITGA2B | c.3061-21T= (n.3061-21T=) c.2375-21T= c.254-21T= c.38-21T= c.2959-21T= (n.2959-21T=) c.2944-21T= (n.2944-21T=) | |
17 | g.44372444A>G | CA626119042 | ITGA2B | c.3061-21T>C (n.3061-21T>C) c.2375-21T>C c.254-21T>C c.38-21T>C c.2959-21T>C (n.2959-21T>C) c.2944-21T>C (n.2944-21T>C) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372445G>A | CA8602471 | ITGA2B | c.3061-22C>T (n.3061-22C>T) c.2375-22C>T c.254-22C>T c.38-22C>T c.2959-22C>T (n.2959-22C>T) c.2944-22C>T (n.2944-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372445G= | CA2261364391 | ITGA2B | c.3061-22C= (n.3061-22C=) c.2375-22C= c.254-22C= c.38-22C= c.2959-22C= (n.2959-22C=) c.2944-22C= (n.2944-22C=) | |
17 | g.44372446G>A | CA2638212741 | ITGA2B | c.3061-23C>T (n.3061-23C>T) c.2375-23C>T c.254-23C>T c.38-23C>T c.2959-23C>T (n.2959-23C>T) c.2944-23C>T (n.2944-23C>T) | gnomAD v4 |
17 | g.44372446G>C | CA2638212742 | ITGA2B | c.3061-23C>G (n.3061-23C>G) c.2375-23C>G c.254-23C>G c.38-23C>G c.2959-23C>G (n.2959-23C>G) c.2944-23C>G (n.2944-23C>G) | gnomAD v4 |
17 | g.44372446G>T | CA2638212743 | ITGA2B | c.3061-23C>A (n.3061-23C>A) c.2375-23C>A c.254-23C>A c.38-23C>A c.2959-23C>A (n.2959-23C>A) c.2944-23C>A (n.2944-23C>A) | gnomAD v4 |
17 | g.44372448C>G | CA2638212746 | ITGA2B | c.3061-25G>C (n.3061-25G>C) c.2375-25G>C c.254-25G>C c.38-25G>C c.2959-25G>C (n.2959-25G>C) c.2944-25G>C (n.2944-25G>C) | gnomAD v4 |
17 | g.44372450G>A | CA8602472 | ITGA2B | c.3061-27C>T (n.3061-27C>T) c.2375-27C>T c.254-27C>T c.38-27C>T c.2959-27C>T (n.2959-27C>T) c.2944-27C>T (n.2944-27C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372450G>C | CA2261364393 | ITGA2B | c.3061-27C>G (n.3061-27C>G) c.2375-27C>G c.254-27C>G c.38-27C>G c.2959-27C>G (n.2959-27C>G) c.2944-27C>G (n.2944-27C>G) | dbSNP |
17 | g.44372450G= | CA2261364392 | ITGA2B | c.3061-27C= (n.3061-27C=) c.2375-27C= c.254-27C= c.38-27C= c.2959-27C= (n.2959-27C=) c.2944-27C= (n.2944-27C=) | |
17 | g.44372451G>C | CA290942926 | ITGA2B | c.3061-28C>G (n.3061-28C>G) c.2375-28C>G c.254-28C>G c.38-28C>G c.2959-28C>G (n.2959-28C>G) c.2944-28C>G (n.2944-28C>G) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372451G= | CA2261364394 | ITGA2B | c.3061-28C= (n.3061-28C=) c.2375-28C= c.254-28C= c.38-28C= c.2959-28C= (n.2959-28C=) c.2944-28C= (n.2944-28C=) | |
17 | g.44372452G>C | CA2638212748 | ITGA2B | c.3061-29C>G (n.3061-29C>G) c.2375-29C>G c.254-29C>G c.38-29C>G c.2959-29C>G (n.2959-29C>G) c.2944-29C>G (n.2944-29C>G) | gnomAD v4 |
17 | g.44372452G>T | CA2638212750 | ITGA2B | c.3061-29C>A (n.3061-29C>A) c.2375-29C>A c.254-29C>A c.38-29C>A c.2959-29C>A (n.2959-29C>A) c.2944-29C>A (n.2944-29C>A) | gnomAD v4 |
17 | g.44372453T>C | CA626119046 | ITGA2B | c.3061-30A>G (n.3061-30A>G) c.2375-30A>G c.254-30A>G c.38-30A>G c.2959-30A>G (n.2959-30A>G) c.2944-30A>G (n.2944-30A>G) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372453T= | CA2261364395 | ITGA2B | c.3061-30A= (n.3061-30A=) c.2375-30A= c.254-30A= c.38-30A= c.2959-30A= (n.2959-30A=) c.2944-30A= (n.2944-30A=) | |
17 | g.44372455T>C | CA2638212751 | ITGA2B | c.3061-32A>G (n.3061-32A>G) c.2375-32A>G c.254-32A>G c.38-32A>G c.2959-32A>G (n.2959-32A>G) c.2944-32A>G (n.2944-32A>G) | gnomAD v4 |
17 | g.44372456A>G | CA500260878 | ITGA2B | c.3061-33T>C (n.3061-33T>C) c.2375-33T>C c.254-33T>C c.38-33T>C c.2959-33T>C (n.2959-33T>C) c.2944-33T>C (n.2944-33T>C) | dbSNP gnomAD v4 |
17 | g.44372457C>A | CA2594317833 | ITGA2B | c.3061-34G>T (n.3061-34G>T) c.2375-34G>T c.254-34G>T c.38-34G>T c.2959-34G>T (n.2959-34G>T) c.2944-34G>T (n.2944-34G>T) | gnomAD v3 gnomAD v4 |
17 | g.44372457C>G | CA2638212753 | ITGA2B | c.3061-34G>C (n.3061-34G>C) c.2375-34G>C c.254-34G>C c.38-34G>C c.2959-34G>C (n.2959-34G>C) c.2944-34G>C (n.2944-34G>C) | gnomAD v4 |
17 | g.44372459G>T | CA2638212759 | ITGA2B | c.3061-36C>A (n.3061-36C>A) c.2375-36C>A c.254-36C>A c.38-36C>A c.2959-36C>A (n.2959-36C>A) c.2944-36C>A (n.2944-36C>A) | gnomAD v4 |
17 | g.44372460A>T | CA2638212761 | ITGA2B | c.3061-37T>A (n.3061-37T>A) c.2375-37T>A c.254-37T>A c.38-37T>A c.2959-37T>A (n.2959-37T>A) c.2944-37T>A (n.2944-37T>A) | gnomAD v4 |
17 | g.44372462G>T | CA2638212763 | ITGA2B | c.3061-39C>A (n.3061-39C>A) c.2375-39C>A c.254-39C>A c.38-39C>A c.2959-39C>A (n.2959-39C>A) c.2944-39C>A (n.2944-39C>A) | gnomAD v4 |
17 | g.44372463A= | CA2261364396 | ITGA2B | c.3061-40T= (n.3061-40T=) c.2375-40T= c.254-40T= c.38-40T= c.2959-40T= (n.2959-40T=) c.2944-40T= (n.2944-40T=) | |
17 | g.44372463A>G | CA2261364397 | ITGA2B | c.3061-40T>C (n.3061-40T>C) c.2375-40T>C c.254-40T>C c.38-40T>C c.2959-40T>C (n.2959-40T>C) c.2944-40T>C (n.2944-40T>C) | dbSNP |
17 | g.44372464T>A | CA8602473 | ITGA2B | c.3061-41A>T (n.3061-41A>T) c.2375-41A>T c.254-41A>T c.38-41A>T c.2959-41A>T (n.2959-41A>T) c.2944-41A>T (n.2944-41A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372464T= | CA2261364398 | ITGA2B | c.3061-41A= (n.3061-41A=) c.2375-41A= c.254-41A= c.38-41A= c.2959-41A= (n.2959-41A=) c.2944-41A= (n.2944-41A=) | |
17 | g.44372466del | CA2809589680 | ITGA2B | c.3061-41del (n.3061-41del) c.2375-41del c.254-41del c.38-41del c.2959-41del (n.2959-41del) c.2944-41del (n.2944-41del) | |
17 | g.44372467G>T | CA2638212769 | ITGA2B | c.3061-44C>A (n.3061-44C>A) c.2375-44C>A c.254-44C>A c.38-44C>A c.2959-44C>A (n.2959-44C>A) c.2944-44C>A (n.2944-44C>A) | gnomAD v4 |
17 | g.44372468C= | CA2261364399 | ITGA2B | c.3061-45G= (n.3061-45G=) c.2375-45G= c.254-45G= c.38-45G= c.2959-45G= (n.2959-45G=) c.2944-45G= (n.2944-45G=) | |
17 | g.44372468C>T | CA626119055 | ITGA2B | c.3061-45G>A (n.3061-45G>A) c.2375-45G>A c.254-45G>A c.38-45G>A c.2959-45G>A (n.2959-45G>A) c.2944-45G>A (n.2944-45G>A) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.44372469T>A | CA2638212774 | ITGA2B | c.3061-46A>T (n.3061-46A>T) c.2375-46A>T c.254-46A>T c.38-46A>T c.2959-46A>T (n.2959-46A>T) c.2944-46A>T (n.2944-46A>T) | gnomAD v4 |
17 | g.44372469T>C | CA2576290834 | ITGA2B | c.3061-46A>G (n.3061-46A>G) c.2375-46A>G c.254-46A>G c.38-46A>G c.2959-46A>G (n.2959-46A>G) c.2944-46A>G (n.2944-46A>G) | |
17 | g.44372470G>A | CA8602474 | ITGA2B | c.3061-47C>T (n.3061-47C>T) c.2375-47C>T c.254-47C>T c.38-47C>T c.2959-47C>T (n.2959-47C>T) c.2944-47C>T (n.2944-47C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44372470G= | CA2261364400 | ITGA2B | c.3061-47C= (n.3061-47C=) c.2375-47C= c.254-47C= c.38-47C= c.2959-47C= (n.2959-47C=) c.2944-47C= (n.2944-47C=) | |
17 | g.44372471G>A | CA2261364402 | ITGA2B | c.3061-48C>T (n.3061-48C>T) c.2375-48C>T c.254-48C>T c.38-48C>T c.2959-48C>T (n.2959-48C>T) c.2944-48C>T (n.2944-48C>T) | dbSNP gnomAD v4 |
17 | g.44372471G= | CA2261364401 | ITGA2B | c.3061-48C= (n.3061-48C=) c.2375-48C= c.254-48C= c.38-48C= c.2959-48C= (n.2959-48C=) c.2944-48C= (n.2944-48C=) | |
17 | g.44372471G>T | CA2638212780 | ITGA2B | c.3061-48C>A (n.3061-48C>A) c.2375-48C>A c.254-48C>A c.38-48C>A c.2959-48C>A (n.2959-48C>A) c.2944-48C>A (n.2944-48C>A) | gnomAD v4 |
17 | g.44372472C>A | CA2638212786 | ITGA2B | c.3061-49G>T (n.3061-49G>T) c.2375-49G>T c.254-49G>T c.38-49G>T c.2959-49G>T (n.2959-49G>T) c.2944-49G>T (n.2944-49G>T) | gnomAD v4 |
17 | g.44372472C= | CA2261364403 | ITGA2B | c.3061-49G= (n.3061-49G=) c.2375-49G= c.254-49G= c.38-49G= c.2959-49G= (n.2959-49G=) c.2944-49G= (n.2944-49G=) | |
17 | g.44372472C>T | CA290942935 | ITGA2B | c.3061-49G>A (n.3061-49G>A) c.2375-49G>A c.254-49G>A c.38-49G>A c.2959-49G>A (n.2959-49G>A) c.2944-49G>A (n.2944-49G>A) | dbSNP gnomAD v4 |
17 | g.44372475del | CA2576290835 | ITGA2B | c.3061-49del (n.3061-49del) c.2375-49del c.254-49del c.38-49del c.2959-49del (n.2959-49del) c.2944-49del (n.2944-49del) | |
17 | g.44372475C>A | CA2638212797 | ITGA2B | c.3061-52G>T (n.3061-52G>T) c.2375-52G>T c.254-52G>T c.38-52G>T c.2959-52G>T (n.2959-52G>T) c.2944-52G>T (n.2944-52G>T) | gnomAD v4 |
17 | g.44372475C>G | CA2638212793 | ITGA2B | c.3061-52G>C (n.3061-52G>C) c.2375-52G>C c.254-52G>C c.38-52G>C c.2959-52G>C (n.2959-52G>C) c.2944-52G>C (n.2944-52G>C) | gnomAD v4 |
17 | g.44372477G>A | CA2261364405 | ITGA2B | c.3061-54C>T (n.3061-54C>T) c.2375-54C>T c.254-54C>T c.38-54C>T c.2959-54C>T (n.2959-54C>T) c.2944-54C>T (n.2944-54C>T) | dbSNP |
17 | g.44372477G= | CA2261364404 | ITGA2B | c.3061-54C= (n.3061-54C=) c.2375-54C= c.254-54C= c.38-54C= c.2959-54C= (n.2959-54C=) c.2944-54C= (n.2944-54C=) | |
17 | g.44372478A>T | CA2638212800 | ITGA2B | c.3061-55T>A (n.3061-55T>A) c.2375-55T>A c.254-55T>A c.38-55T>A c.2959-55T>A (n.2959-55T>A) c.2944-55T>A (n.2944-55T>A) | gnomAD v4 |
17 | g.44372479G>A | CA983994105 | ITGA2B | c.3061-56C>T (n.3061-56C>T) c.2375-56C>T c.254-56C>T c.38-56C>T c.2959-56C>T (n.2959-56C>T) c.2944-56C>T (n.2944-56C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372479G= | CA2261364406 | ITGA2B | c.3061-56C= (n.3061-56C=) c.2375-56C= c.254-56C= c.38-56C= c.2959-56C= (n.2959-56C=) c.2944-56C= (n.2944-56C=) | |
17 | g.44372480C>A | CA290942936 | ITGA2B | c.3061-57G>T (n.3061-57G>T) c.2375-57G>T c.254-57G>T c.38-57G>T c.2959-57G>T (n.2959-57G>T) c.2944-57G>T (n.2944-57G>T) | dbSNP |
17 | g.44372480C= | CA2261364407 | ITGA2B | c.3061-57G= (n.3061-57G=) c.2375-57G= c.254-57G= c.38-57G= c.2959-57G= (n.2959-57G=) c.2944-57G= (n.2944-57G=) | |
17 | g.44372481A>T | CA2638212804 | ITGA2B | c.3061-58T>A (n.3061-58T>A) c.2375-58T>A c.254-58T>A c.38-58T>A c.2959-58T>A (n.2959-58T>A) c.2944-58T>A (n.2944-58T>A) | gnomAD v4 |
17 | g.44372482C>T | CA2638212805 | ITGA2B | c.3061-59G>A (n.3061-59G>A) c.2375-59G>A c.254-59G>A c.38-59G>A c.2959-59G>A (n.2959-59G>A) c.2944-59G>A (n.2944-59G>A) | gnomAD v4 |
17 | g.44372483A= | CA2261364408 | ITGA2B | c.3061-60T= (n.3061-60T=) c.2375-60T= c.254-60T= c.38-60T= c.2959-60T= (n.2959-60T=) c.2944-60T= (n.2944-60T=) | |
17 | g.44372483A>G | CA2261364409 | ITGA2B | c.3061-60T>C (n.3061-60T>C) c.2375-60T>C c.254-60T>C c.38-60T>C c.2959-60T>C (n.2959-60T>C) c.2944-60T>C (n.2944-60T>C) | dbSNP |
17 | g.44372484T>A | CA290942938 | ITGA2B | c.3061-61A>T (n.3061-61A>T) c.2375-61A>T c.254-61A>T c.38-61A>T c.2959-61A>T (n.2959-61A>T) c.2944-61A>T (n.2944-61A>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372484T>C | CA2638212810 | ITGA2B | c.3061-61A>G (n.3061-61A>G) c.2375-61A>G c.254-61A>G c.38-61A>G c.2959-61A>G (n.2959-61A>G) c.2944-61A>G (n.2944-61A>G) | gnomAD v4 |
17 | g.44372484T= | CA2261364410 | ITGA2B | c.3061-61A= (n.3061-61A=) c.2375-61A= c.254-61A= c.38-61A= c.2959-61A= (n.2959-61A=) c.2944-61A= (n.2944-61A=) | |
17 | g.44372485G>T | CA2576290836 | ITGA2B | c.3061-62C>A (n.3061-62C>A) c.2375-62C>A c.254-62C>A c.38-62C>A c.2959-62C>A (n.2959-62C>A) c.2944-62C>A (n.2944-62C>A) | gnomAD v4 |
17 | g.44372486T>A | CA290942942 | ITGA2B | c.3061-63A>T (n.3061-63A>T) c.2375-63A>T c.254-63A>T c.38-63A>T c.2959-63A>T (n.2959-63A>T) c.2944-63A>T (n.2944-63A>T) | dbSNP |
17 | g.44372486T>G | CA2576290837 | ITGA2B | c.3061-63A>C (n.3061-63A>C) c.2375-63A>C c.254-63A>C c.38-63A>C c.2959-63A>C (n.2959-63A>C) c.2944-63A>C (n.2944-63A>C) | |
17 | g.44372486T= | CA2261364411 | ITGA2B | c.3061-63A= (n.3061-63A=) c.2375-63A= c.254-63A= c.38-63A= c.2959-63A= (n.2959-63A=) c.2944-63A= (n.2944-63A=) | |
17 | g.44372487G>A | CA2261364413 | ITGA2B | c.3061-64C>T (n.3061-64C>T) c.2375-64C>T c.254-64C>T c.38-64C>T c.2959-64C>T (n.2959-64C>T) c.2944-64C>T (n.2944-64C>T) | dbSNP gnomAD v4 |
17 | g.44372487G= | CA2261364412 | ITGA2B | c.3061-64C= (n.3061-64C=) c.2375-64C= c.254-64C= c.38-64C= c.2959-64C= (n.2959-64C=) c.2944-64C= (n.2944-64C=) | |
17 | g.44372487G>T | CA2638212818 | ITGA2B | c.3061-64C>A (n.3061-64C>A) c.2375-64C>A c.254-64C>A c.38-64C>A c.2959-64C>A (n.2959-64C>A) c.2944-64C>A (n.2944-64C>A) | gnomAD v4 |
17 | g.44372488A>C | CA2809589681 | ITGA2B | c.3061-65T>G (n.3061-65T>G) c.2375-65T>G c.254-65T>G c.38-65T>G c.2959-65T>G (n.2959-65T>G) c.2944-65T>G (n.2944-65T>G) | |
17 | g.44372489G>A | CA2638212819 | ITGA2B | c.3061-66C>T (n.3061-66C>T) c.2375-66C>T c.254-66C>T c.38-66C>T c.2959-66C>T (n.2959-66C>T) c.2944-66C>T (n.2944-66C>T) | gnomAD v4 |
17 | g.44372490G>A | CA2638212821 | ITGA2B | c.3061-67C>T (n.3061-67C>T) c.2375-67C>T c.254-67C>T c.38-67C>T c.2959-67C>T (n.2959-67C>T) c.2944-67C>T (n.2944-67C>T) | gnomAD v4 |
17 | g.44372490G>T | CA2638212822 | ITGA2B | c.3061-67C>A (n.3061-67C>A) c.2375-67C>A c.254-67C>A c.38-67C>A c.2959-67C>A (n.2959-67C>A) c.2944-67C>A (n.2944-67C>A) | gnomAD v4 |
17 | g.44372491_44372492insTTCCCTGAGGCCCTGCCGCCCTTTCTCCCTCTTTTCTTTTTTTTTTGAGAC | CA2638212824 | ITGA2B | c.3061-69_3061-68insGTCTCAAAAAAAAAAGAAAAGAGGGAGAAAGGGCGGCAGGGCCTCAGGGAA (n.3061-69_3061-68insGTCTCAAAAAAAAAAGAAAAGAGGGAGAAAGGGCGGCAGGGCCTCAGGGAA) c.2375-69_2375-68insGTCTCAAAAAAAAAAGAAAAGAGGGAGAAAGGGCGGCAGGGCCTCAGGGAA c.254-69_254-68insGTCTCAAAAAAAAAAGAAAAGAGGGAGAAAGGGCGGCAGGGCCTCAGGGAA c.38-69_38-68insGTCTCAAAAAAAAAAGAAAAGAGGGAGAAAGGGCGGCAGGGCCTCAGGGAA c.2959-69_2959-68insGTCTCAAAAAAAAAAGAAAAGAGGGAGAAAGGGCGGCAGGGCCTCAGGGAA (n.2959-69_2959-68insGTCTCAAAAAAAAAAGAAAAGAGGGAGAAAGGGCGGCAGGGCCTCAGGGAA) c.2944-69_2944-68insGTCTCAAAAAAAAAAGAAAAGAGGGAGAAAGGGCGGCAGGGCCTCAGGGAA (n.2944-69_2944-68insGTCTCAAAAAAAAAAGAAAAGAGGGAGAAAGGGCGGCAGGGCCTCAGGGAA) | gnomAD v4 |
17 | g.44372493G>A | CA290942955 | ITGA2B | c.3061-70C>T (n.3061-70C>T) c.2375-70C>T c.254-70C>T c.38-70C>T c.2959-70C>T (n.2959-70C>T) c.2944-70C>T (n.2944-70C>T) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.44372493G= | CA2261364414 | ITGA2B | c.3061-70C= (n.3061-70C=) c.2375-70C= c.254-70C= c.38-70C= c.2959-70C= (n.2959-70C=) c.2944-70C= (n.2944-70C=) | |
17 | g.44372493G>T | CA2638212830 | ITGA2B | c.3061-70C>A (n.3061-70C>A) c.2375-70C>A c.254-70C>A c.38-70C>A c.2959-70C>A (n.2959-70C>A) c.2944-70C>A (n.2944-70C>A) | gnomAD v4 |