| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |