Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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>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.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>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>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.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= |