Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6036408C>A | CA478103101 | VWF | c.2526G>T (p.Val842=) n.421-42474G>T | |
12 | g.6036408C>G | CA478103102 | VWF | c.2526G>C (p.Val842=) n.421-42474G>C | |
12 | g.6036408C>T | CA478103103 | VWF | c.2526G>A (p.Val842=) n.421-42474G>A | |
12 | g.6036409A= | CA2013880918 | VWF | c.2525T= (p.Val842=) n.421-42475T= | |
12 | g.6036409A>C | CA383520316 | VWF | c.2525T>G (p.Val842Gly) n.421-42475T>G | |
12 | g.6036409A>G | CA383520317 | VWF | c.2525T>C (p.Val842Ala) n.421-42475T>C | |
12 | g.6036409A>T | CA6403046 | VWF | c.2525T>A (p.Val842Glu) n.421-42475T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036410C>A | CA383520318 | VWF | c.2524G>T (p.Val842Leu) n.421-42476G>T | |
12 | g.6036410C= | CA2013880919 | VWF | c.2524G= (p.Val842=) n.421-42476G= | |
12 | g.6036410C>G | CA383520319 | VWF | c.2524G>C (p.Val842Leu) n.421-42476G>C | |
12 | g.6036410C>T | CA6403047 | VWF | c.2524G>A (p.Val842Met) n.421-42476G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6036411del | CA2617231479 | VWF | c.2523del (p.Val842Ter) n.421-42477del | gnomAD v4 |
12 | g.6036411T>A | CA478103105 | VWF | c.2523A>T (p.Thr841=) n.421-42477A>T | |
12 | g.6036411T>C | CA478103106 | VWF | c.2523A>G (p.Thr841=) n.421-42477A>G | gnomAD v4 |
12 | g.6036411T>G | CA478103107 | VWF | c.2523A>C (p.Thr841=) n.421-42477A>C | |
12 | g.6036412G>A | CA383520320 | VWF | c.2522C>T (p.Thr841Ile) n.421-42478C>T | gnomAD v4 |
12 | g.6036412G>C | CA383520321 | VWF | c.2522C>G (p.Thr841Arg) n.421-42478C>G | dbSNP gnomAD v4 |
12 | g.6036412G= | CA2013880920 | VWF | c.2522C= (p.Thr841=) n.421-42478C= | |
12 | g.6036412G>T | CA383520322 | VWF | c.2522C>A (p.Thr841Lys) n.421-42478C>A | |
12 | g.6036413T>A | CA383520324 | VWF | c.2521A>T (p.Thr841Ser) n.421-42479A>T | |
12 | g.6036413T>C | CA383520325 | VWF | c.2521A>G (p.Thr841Ala) n.421-42479A>G | gnomAD v4 |
12 | g.6036413T>G | CA383520323 | VWF | c.2521A>C (p.Thr841Pro) n.421-42479A>C | |
12 | g.6036414T>A | CA383520326 | VWF | c.2520A>T (p.Glu840Asp) n.421-42480A>T | |
12 | g.6036414T>C | CA478103111 | VWF | c.2520A>G (p.Glu840=) n.421-42480A>G | |
12 | g.6036414T>G | CA383520327 | VWF | c.2520A>C (p.Glu840Asp) n.421-42480A>C | |
12 | g.6036415T>A | CA383520328 | VWF | c.2519A>T (p.Glu840Val) n.421-42481A>T | |
12 | g.6036415T>C | CA383520329 | VWF | c.2519A>G (p.Glu840Gly) n.421-42481A>G | |
12 | g.6036415T>G | CA383520330 | VWF | c.2519A>C (p.Glu840Ala) n.421-42481A>C | |
12 | g.6036416C>A | CA383520331 | VWF | c.2518G>T (p.Glu840Ter) n.421-42482G>T | COSMIC |
12 | g.6036416C>G | CA383520332 | VWF | c.2518G>C (p.Glu840Gln) n.421-42482G>C | |
12 | g.6036416C>T | CA383520333 | VWF | c.2518G>A (p.Glu840Lys) n.421-42482G>A | |
12 | g.6036417T>A | CA478103115 | VWF | c.2517A>T (p.Gly839=) n.421-42483A>T | |
12 | g.6036417T>C | CA478103116 | VWF | c.2517A>G (p.Gly839=) n.421-42483A>G | |
12 | g.6036417T>G | CA478103117 | VWF | c.2517A>C (p.Gly839=) n.421-42483A>C | |
12 | g.6036417_6036418delinsTC | CA2013880921 | VWF | c.2516_2517delinsGA (p.Gly839=) n.421-42484_421-42483delinsGA | |
12 | g.6036418C>A | CA383520335 | VWF | c.2516G>T (p.Gly839Val) n.421-42484G>T | |
12 | g.6036418C= | CA2013880922 | VWF | c.2516G= (p.Gly839=) n.421-42484G= | |
12 | g.6036418C>G | CA383520334 | VWF | c.2516G>C (p.Gly839Ala) n.421-42484G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6036418C>T | CA383520336 | VWF | c.2516G>A (p.Gly839Glu) n.421-42484G>A | gnomAD v4 |
12 | g.6036419del | CA228347 | VWF | c.2516del (p.Gly839GlufsTer4) n.421-42484del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036419C>A | CA383520337 | VWF | c.2515G>T (p.Gly839Ter) n.421-42485G>T | |
12 | g.6036419C= | CA2013880923 | VWF | c.2515G= (p.Gly839=) n.421-42485G= | |
12 | g.6036419C>G | CA383520338 | VWF | c.2515G>C (p.Gly839Arg) n.421-42485G>C | |
12 | g.6036419C>T | CA383520339 | VWF | c.2515G>A (p.Gly839Arg) n.421-42485G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036420A>C | CA478103120 | VWF | c.2514T>G (p.Pro838=) n.421-42486T>G | |
12 | g.6036420A>G | CA478103118 | VWF | c.2514T>C (p.Pro838=) n.421-42486T>C | dbSNP |
12 | g.6036420A>T | CA478103119 | VWF | c.2514T>A (p.Pro838=) n.421-42486T>A | |
12 | g.6036421G>A | CA6403048 | VWF | c.2513C>T (p.Pro838Leu) n.421-42487C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036421G>C | CA383520340 | VWF | c.2513C>G (p.Pro838Arg) n.421-42487C>G | |
12 | g.6036421G= | CA2013880924 | VWF | c.2513C= (p.Pro838=) n.421-42487C= | |
12 | g.6036421G>T | CA383520341 | VWF | c.2513C>A (p.Pro838His) n.421-42487C>A | |
12 | g.6036422G>A | CA383520344 | VWF | c.2512C>T (p.Pro838Ser) n.421-42488C>T | dbSNP gnomAD v4 |
12 | g.6036422G>C | CA383520343 | VWF | c.2512C>G (p.Pro838Ala) n.421-42488C>G | |
12 | g.6036422G= | CA2013880925 | VWF | c.2512C= (p.Pro838=) n.421-42488C= | |
12 | g.6036422G>T | CA383520342 | VWF | c.2512C>A (p.Pro838Thr) n.421-42488C>A | |
12 | g.6036423G>A | CA478103124 | VWF | c.2511C>T (p.Ala837=) n.421-42489C>T | gnomAD v4 |
12 | g.6036423G>C | CA478103125 | VWF | c.2511C>G (p.Ala837=) n.421-42489C>G | |
12 | g.6036423G>T | CA478103127 | VWF | c.2511C>A (p.Ala837=) n.421-42489C>A | |
12 | g.6036424G>A | CA232299462 | VWF | c.2510C>T (p.Ala837Val) n.421-42490C>T | dbSNP gnomAD v4 |
12 | g.6036424G>C | CA383520345 | VWF | c.2510C>G (p.Ala837Gly) n.421-42490C>G | |
12 | g.6036424G= | CA2013880926 | VWF | c.2510C= (p.Ala837=) n.421-42490C= | |
12 | g.6036424G>T | CA6403049 | VWF | c.2510C>A (p.Ala837Asp) n.421-42490C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036425C>A | CA383520346 | VWF | c.2509G>T (p.Ala837Ser) n.421-42491G>T | gnomAD v4 |
12 | g.6036425C= | CA2013880927 | VWF | c.2509G= (p.Ala837=) n.421-42491G= | |
12 | g.6036425C>G | CA383520347 | VWF | c.2509G>C (p.Ala837Pro) n.421-42491G>C | |
12 | g.6036425C>T | CA6403050 | VWF | c.2509G>A (p.Ala837Thr) n.421-42491G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036426A>C | CA383520348 | VWF | c.2508T>G (p.Tyr836Ter) n.421-42492T>G | |
12 | g.6036426A>G | CA478103132 | VWF | c.2508T>C (p.Tyr836=) n.421-42492T>C | |
12 | g.6036426A>T | CA383520349 | VWF | c.2508T>A (p.Tyr836Ter) n.421-42492T>A | |
12 | g.6036427T>A | CA383520350 | VWF | c.2507A>T (p.Tyr836Phe) n.421-42493A>T | |
12 | g.6036427T>C | CA383520352 | VWF | c.2507A>G (p.Tyr836Cys) n.421-42493A>G | |
12 | g.6036427T>G | CA383520351 | VWF | c.2507A>C (p.Tyr836Ser) n.421-42493A>C | |
12 | g.6036428A= | CA2013880928 | VWF | c.2506T= (p.Tyr836=) n.421-42494T= | |
12 | g.6036428A>C | CA383520353 | VWF | c.2506T>G (p.Tyr836Asp) n.421-42494T>G | |
12 | g.6036428A>G | CA383520354 | VWF | c.2506T>C (p.Tyr836His) n.421-42494T>C | dbSNP gnomAD v4 |
12 | g.6036428A>T | CA383520355 | VWF | c.2506T>A (p.Tyr836Asn) n.421-42494T>A | |
12 | g.6036429C>A | CA383520356 | VWF | c.2505G>T (p.Glu835Asp) n.421-42495G>T | |
12 | g.6036429C>G | CA383520357 | VWF | c.2505G>C (p.Glu835Asp) n.421-42495G>C | |
12 | g.6036429C>T | CA478103136 | VWF | c.2505G>A (p.Glu835=) n.421-42495G>A | |
12 | g.6036430T>A | CA383520358 | VWF | c.2504A>T (p.Glu835Val) n.421-42496A>T | |
12 | g.6036430T>C | CA383520359 | VWF | c.2504A>G (p.Glu835Gly) n.421-42496A>G | |
12 | g.6036430T>G | CA383520360 | VWF | c.2504A>C (p.Glu835Ala) n.421-42496A>C | |
12 | g.6036431C>A | CA383520361 | VWF | c.2503G>T (p.Glu835Ter) n.421-42497G>T | |
12 | g.6036431C= | CA2013880929 | VWF | c.2503G= (p.Glu835=) n.421-42497G= | |
12 | g.6036431C>G | CA383520362 | VWF | c.2503G>C (p.Glu835Gln) n.421-42497G>C | |
12 | g.6036431C>T | CA383520363 | VWF | c.2503G>A (p.Glu835Lys) n.421-42497G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036432C>A | CA383520364 | VWF | c.2502G>T (p.Lys834Asn) n.421-42498G>T | |
12 | g.6036432C= | CA2013880930 | VWF | c.2502G= (p.Lys834=) n.421-42498G= | |
12 | g.6036432C>G | CA383520365 | VWF | c.2502G>C (p.Lys834Asn) n.421-42498G>C | |
12 | g.6036432C>T | CA478103139 | VWF | c.2502G>A (p.Lys834=) n.421-42498G>A | dbSNP |
12 | g.6036433T>A | CA383520368 | VWF | c.2501A>T (p.Lys834Met) n.421-42499A>T | |
12 | g.6036433T>C | CA383520366 | VWF | c.2501A>G (p.Lys834Arg) n.421-42499A>G | gnomAD v4 |
12 | g.6036433T>G | CA383520367 | VWF | c.2501A>C (p.Lys834Thr) n.421-42499A>C | |
12 | g.6036434T>A | CA383520369 | VWF | c.2500A>T (p.Lys834Ter) n.421-42500A>T | |
12 | g.6036434T>C | CA383520370 | VWF | c.2500A>G (p.Lys834Glu) n.421-42500A>G | |
12 | g.6036434T>G | CA383520371 | VWF | c.2500A>C (p.Lys834Gln) n.421-42500A>C | |
12 | g.6036435G>A | CA478103140 | VWF | c.2499C>T (p.Gly833=) n.421-42501C>T | gnomAD v4 |
12 | g.6036435G>C | CA478103142 | VWF | c.2499C>G (p.Gly833=) n.421-42501C>G | |
12 | g.6036435G>T | CA478103144 | VWF | c.2499C>A (p.Gly833=) n.421-42501C>A | |
12 | g.6036436C>A | CA383520372 | VWF | c.2498G>T (p.Gly833Val) n.421-42502G>T | |
12 | g.6036436C>G | CA383520373 | VWF | c.2498G>C (p.Gly833Ala) n.421-42502G>C | |
12 | g.6036436C>T | CA383520374 | VWF | c.2498G>A (p.Gly833Asp) n.421-42502G>A | COSMIC |
12 | g.6036437C>A | CA383520375 | VWF | c.2497G>T (p.Gly833Cys) n.421-42503G>T | |
12 | g.6036437C= | CA2013880931 | VWF | c.2497G= (p.Gly833=) n.421-42503G= | |
12 | g.6036437C>G | CA383520376 | VWF | c.2497G>C (p.Gly833Arg) n.421-42503G>C | |
12 | g.6036437C>T | CA6403051 | VWF | c.2497G>A (p.Gly833Ser) n.421-42503G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036438C>A | CA383520377 | VWF | c.2496G>T (p.Gln832His) n.421-42504G>T | |
12 | g.6036438C= | CA2013880932 | VWF | c.2496G= (p.Gln832=) n.421-42504G= | |
12 | g.6036438C>G | CA383520378 | VWF | c.2496G>C (p.Gln832His) n.421-42504G>C | dbSNP |
12 | g.6036438C>T | CA478103148 | VWF | c.2496G>A (p.Gln832=) n.421-42504G>A | |
12 | g.6036439T>A | CA383520379 | VWF | c.2495A>T (p.Gln832Leu) n.421-42505A>T | |
12 | g.6036439T>C | CA383520381 | VWF | c.2495A>G (p.Gln832Arg) n.421-42505A>G | |
12 | g.6036439T>G | CA383520380 | VWF | c.2495A>C (p.Gln832Pro) n.421-42505A>C | |
12 | g.6036440G>A | CA383520382 | VWF | c.2494C>T (p.Gln832Ter) n.421-42506C>T | |
12 | g.6036440G>C | CA383520384 | VWF | c.2494C>G (p.Gln832Glu) n.421-42506C>G | |
12 | g.6036440G>T | CA383520383 | VWF | c.2494C>A (p.Gln832Lys) n.421-42506C>A | |
12 | g.6036441A>C | CA383520385 | VWF | c.2493T>G (p.His831Gln) n.421-42507T>G | |
12 | g.6036441A>G | CA478103152 | VWF | c.2493T>C (p.His831=) n.421-42507T>C | |
12 | g.6036441A>T | CA383520386 | VWF | c.2493T>A (p.His831Gln) n.421-42507T>A | |
12 | g.6036442T>A | CA383520387 | VWF | c.2492A>T (p.His831Leu) n.421-42508A>T | gnomAD v4 |
12 | g.6036442T>C | CA383520389 | VWF | c.2492A>G (p.His831Arg) n.421-42508A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036442T>G | CA383520388 | VWF | c.2492A>C (p.His831Pro) n.421-42508A>C | |
12 | g.6036442T= | CA2013880933 | VWF | c.2492A= (p.His831=) n.421-42508A= | |
12 | g.6036443G>A | CA383520390 | VWF | c.2491C>T (p.His831Tyr) n.421-42509C>T | |
12 | g.6036443G>C | CA383520392 | VWF | c.2491C>G (p.His831Asp) n.421-42509C>G | |
12 | g.6036443G= | CA2013880934 | VWF | c.2491C= (p.His831=) n.421-42509C= | |
12 | g.6036443G>T | CA383520391 | VWF | c.2491C>A (p.His831Asn) n.421-42509C>A | dbSNP gnomAD v4 |
12 | g.6036444G>A | CA6403053 | VWF | c.2490C>T (p.Phe830=) n.421-42510C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036444G>C | CA6403052 | VWF | c.2490C>G (p.Phe830Leu) n.421-42510C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6036444G= | CA2013880935 | VWF | c.2490C= (p.Phe830=) n.421-42510C= | |
12 | g.6036444G>T | CA383520393 | VWF | c.2490C>A (p.Phe830Leu) n.421-42510C>A | |
12 | g.6036445A= | CA2013880936 | VWF | c.2489T= (p.Phe830=) n.421-42511T= | |
12 | g.6036445A>C | CA383520394 | VWF | c.2489T>G (p.Phe830Cys) n.421-42511T>G | |
12 | g.6036445A>G | CA383520395 | VWF | c.2489T>C (p.Phe830Ser) n.421-42511T>C | dbSNP gnomAD v4 |
12 | g.6036445A>T | CA383520396 | VWF | c.2489T>A (p.Phe830Tyr) n.421-42511T>A | |
12 | g.6036446A>C | CA383520399 | VWF | c.2488T>G (p.Phe830Val) n.421-42512T>G | gnomAD v4 |
12 | g.6036446A>G | CA383520397 | VWF | c.2488T>C (p.Phe830Leu) n.421-42512T>C | |
12 | g.6036446A>T | CA383520398 | VWF | c.2488T>A (p.Phe830Ile) n.421-42512T>A | |
12 | g.6036447G>A | CA478103153 | VWF | c.2487C>T (p.Cys829=) n.421-42513C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036447G>C | CA383520400 | VWF | c.2487C>G (p.Cys829Trp) n.421-42513C>G | |
12 | g.6036447G= | CA2013880937 | VWF | c.2487C= (p.Cys829=) n.421-42513C= | |
12 | g.6036447G>T | CA383520401 | VWF | c.2487C>A (p.Cys829Ter) n.421-42513C>A | |
12 | g.6036448C>A | CA383520402 | VWF | c.2486G>T (p.Cys829Phe) n.421-42514G>T | |
12 | g.6036448C>G | CA383520403 | VWF | c.2486G>C (p.Cys829Ser) n.421-42514G>C | |
12 | g.6036448C>T | CA383520404 | VWF | c.2486G>A (p.Cys829Tyr) n.421-42514G>A | |
12 | g.6036449A>C | CA383520405 | VWF | c.2485T>G (p.Cys829Gly) n.421-42515T>G | |
12 | g.6036449A>G | CA383520407 | VWF | c.2485T>C (p.Cys829Arg) n.421-42515T>C | |
12 | g.6036449A>T | CA383520406 | VWF | c.2485T>A (p.Cys829Ser) n.421-42515T>A | |
12 | g.6036450G>A | CA478103158 | VWF | c.2484C>T (p.Pro828=) n.421-42516C>T | |
12 | g.6036450G>C | CA478103155 | VWF | c.2484C>G (p.Pro828=) n.421-42516C>G | |
12 | g.6036450G>T | CA478103157 | VWF | c.2484C>A (p.Pro828=) n.421-42516C>A | |
12 | g.6036451G>A | CA383520408 | VWF | c.2483C>T (p.Pro828Leu) n.421-42517C>T | |
12 | g.6036451G>C | CA383520409 | VWF | c.2483C>G (p.Pro828Arg) n.421-42517C>G | |
12 | g.6036451G>T | CA383520410 | VWF | c.2483C>A (p.Pro828His) n.421-42517C>A | |
12 | g.6036452G>A | CA383520411 | VWF | c.2482C>T (p.Pro828Ser) n.421-42518C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036452G>C | CA383520412 | VWF | c.2482C>G (p.Pro828Ala) n.421-42518C>G | |
12 | g.6036452G= | CA2013880938 | VWF | c.2482C= (p.Pro828=) n.421-42518C= | |
12 | g.6036452G>T | CA383520413 | VWF | c.2482C>A (p.Pro828Thr) n.421-42518C>A | |
12 | g.6036453A>C | CA383520414 | VWF | c.2481T>G (p.Cys827Trp) n.421-42519T>G | |
12 | g.6036453A>G | CA478103160 | VWF | c.2481T>C (p.Cys827=) n.421-42519T>C | |
12 | g.6036453A>T | CA383520415 | VWF | c.2481T>A (p.Cys827Ter) n.421-42519T>A | |
12 | g.6036454C>A | CA383520416 | VWF | c.2480G>T (p.Cys827Phe) n.421-42520G>T | |
12 | g.6036454C>G | CA383520417 | VWF | c.2480G>C (p.Cys827Ser) n.421-42520G>C | |
12 | g.6036454C>T | CA383520418 | VWF | c.2480G>A (p.Cys827Tyr) n.421-42520G>A | |
12 | g.6036455A>C | CA383520419 | VWF | c.2479T>G (p.Cys827Gly) n.421-42521T>G | |
12 | g.6036455A>G | CA383520421 | VWF | c.2479T>C (p.Cys827Arg) n.421-42521T>C | |
12 | g.6036455A>T | CA383520420 | VWF | c.2479T>A (p.Cys827Ser) n.421-42521T>A | |
12 | g.6036455dup | CA2617231480 | VWF | c.2479dup (p.Cys827LeufsTer?) n.421-42521dup | gnomAD v4 |
12 | g.6036456C>A | CA383520422 | VWF | c.2478G>T (p.Arg826Ser) n.421-42522G>T | |
12 | g.6036456C= | CA2013880939 | VWF | c.2478G= (p.Arg826=) n.421-42522G= | |
12 | g.6036456C>G | CA6403054 | VWF | c.2478G>C (p.Arg826Ser) n.421-42522G>C | dbSNP ExAC gnomAD v2 |
12 | g.6036456C>T | CA478103164 | VWF | c.2478G>A (p.Arg826=) n.421-42522G>A | |
12 | g.6036457C>A | CA383520423 | VWF | c.2477G>T (p.Arg826Met) n.421-42523G>T | |
12 | g.6036457C= | CA2013880940 | VWF | c.2477G= (p.Arg826=) n.421-42523G= | |
12 | g.6036457C>G | CA383520424 | VWF | c.2477G>C (p.Arg826Thr) n.421-42523G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6036457C>T | CA6403055 | VWF | c.2477G>A (p.Arg826Lys) n.421-42523G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036458T>A | CA383520425 | VWF | c.2476A>T (p.Arg826Trp) n.421-42524A>T | |
12 | g.6036458T>C | CA383520426 | VWF | c.2476A>G (p.Arg826Gly) n.421-42524A>G | dbSNP gnomAD v4 |
12 | g.6036458T>G | CA478103167 | VWF | c.2476A>C (p.Arg826=) n.421-42524A>C | |
12 | g.6036458T= | CA2013880941 | VWF | c.2476A= (p.Arg826=) n.421-42524A= | |
12 | g.6036459T>A | CA383520427 | VWF | c.2475A>T (p.Glu825Asp) n.421-42525A>T | |
12 | g.6036459T>C | CA478103170 | VWF | c.2475A>G (p.Glu825=) n.421-42525A>G | |
12 | g.6036459T>G | CA383520428 | VWF | c.2475A>C (p.Glu825Asp) n.421-42525A>C | |
12 | g.6036460T>A | CA383520429 | VWF | c.2474A>T (p.Glu825Val) n.421-42526A>T | |
12 | g.6036460T>C | CA383520430 | VWF | c.2474A>G (p.Glu825Gly) n.421-42526A>G | gnomAD v4 |
12 | g.6036460T>G | CA383520431 | VWF | c.2474A>C (p.Glu825Ala) n.421-42526A>C | |
12 | g.6036461C>A | CA383520434 | VWF | c.2473G>T (p.Glu825Ter) n.421-42527G>T | |
12 | g.6036461C>G | CA383520432 | VWF | c.2473G>C (p.Glu825Gln) n.421-42527G>C | |
12 | g.6036461C>T | CA383520433 | VWF | c.2473G>A (p.Glu825Lys) n.421-42527G>A | |
12 | g.6036462C>A | CA478103171 | VWF | c.2472G>T (p.Leu824=) n.421-42528G>T | gnomAD v4 |
12 | g.6036462C= | CA2013880942 | VWF | c.2472G= (p.Leu824=) n.421-42528G= | |
12 | g.6036462C>G | CA478103173 | VWF | c.2472G>C (p.Leu824=) n.421-42528G>C | |
12 | g.6036462C>T | CA478103174 | VWF | c.2472G>A (p.Leu824=) n.421-42528G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6036463A>C | CA383520435 | VWF | c.2471T>G (p.Leu824Arg) n.421-42529T>G | gnomAD v4 |
12 | g.6036463A>G | CA383520436 | VWF | c.2471T>C (p.Leu824Pro) n.421-42529T>C | gnomAD v4 |
12 | g.6036463A>T | CA383520437 | VWF | c.2471T>A (p.Leu824Gln) n.421-42529T>A | |
12 | g.6036464G>A | CA232299463 | VWF | c.2470C>T (p.Leu824=) n.421-42530C>T | dbSNP |
12 | g.6036464G>C | CA383520438 | VWF | c.2470C>G (p.Leu824Val) n.421-42530C>G | |
12 | g.6036464G= | CA2013880943 | VWF | c.2470C= (p.Leu824=) n.421-42530C= | |
12 | g.6036464G>T | CA383520439 | VWF | c.2470C>A (p.Leu824Met) n.421-42530C>A | |
12 | g.6036465G>A | CA478103176 | VWF | c.2469C>T (p.Ala823=) n.421-42531C>T | gnomAD v4 |
12 | g.6036465G>C | CA478103177 | VWF | c.2469C>G (p.Ala823=) n.421-42531C>G | |
12 | g.6036465G>T | CA478103179 | VWF | c.2469C>A (p.Ala823=) n.421-42531C>A | |
12 | g.6036466G>A | CA383520440 | VWF | c.2468C>T (p.Ala823Val) n.421-42532C>T | |
12 | g.6036466G>C | CA383520441 | VWF | c.2468C>G (p.Ala823Gly) n.421-42532C>G | |
12 | g.6036466G>T | CA383520442 | VWF | c.2468C>A (p.Ala823Asp) n.421-42532C>A | |
12 | g.6036467C>A | CA383520443 | VWF | c.2467G>T (p.Ala823Ser) n.421-42533G>T | |
12 | g.6036467C>G | CA383520444 | VWF | c.2467G>C (p.Ala823Pro) n.421-42533G>C | |
12 | g.6036467C>T | CA383520445 | VWF | c.2467G>A (p.Ala823Thr) n.421-42533G>A | |
12 | g.6036468C>A | CA478103183 | VWF | c.2466G>T (p.Val822=) n.421-42534G>T | |
12 | g.6036468C= | CA2013880944 | VWF | c.2466G= (p.Val822=) n.421-42534G= | |
12 | g.6036468C>G | CA478103184 | VWF | c.2466G>C (p.Val822=) n.421-42534G>C | |
12 | g.6036468C>T | CA6403056 | VWF | c.2466G>A (p.Val822=) n.421-42534G>A | dbSNP ExAC gnomAD v2 |
12 | g.6036469A>C | CA383520447 | VWF | c.2465T>G (p.Val822Gly) n.421-42535T>G | |
12 | g.6036469A>G | CA383520446 | VWF | c.2465T>C (p.Val822Ala) n.421-42535T>C | |
12 | g.6036469A>T | CA383520448 | VWF | c.2465T>A (p.Val822Glu) n.421-42535T>A | |
12 | g.6036470C>A | CA383520449 | VWF | c.2464G>T (p.Val822Leu) n.421-42536G>T | |
12 | g.6036470C>G | CA383520450 | VWF | c.2464G>C (p.Val822Leu) n.421-42536G>C | |
12 | g.6036470C>T | CA383520451 | VWF | c.2464G>A (p.Val822Met) n.421-42536G>A | |
12 | g.6036471A>C | CA383520452 | VWF | c.2463T>G (p.Cys821Trp) n.421-42537T>G | |
12 | g.6036471A>G | CA478103186 | VWF | c.2463T>C (p.Cys821=) n.421-42537T>C | |
12 | g.6036471A>T | CA383520453 | VWF | c.2463T>A (p.Cys821Ter) n.421-42537T>A | gnomAD v4 |
12 | g.6036472C>A | CA383520454 | VWF | c.2462G>T (p.Cys821Phe) n.421-42538G>T | |
12 | g.6036472C>G | CA383520455 | VWF | c.2462G>C (p.Cys821Ser) n.421-42538G>C | |
12 | g.6036472C>T | CA383520456 | VWF | c.2462G>A (p.Cys821Tyr) n.421-42538G>A | gnomAD v4 |
12 | g.6036473A>C | CA383520457 | VWF | c.2461T>G (p.Cys821Gly) n.421-42539T>G | |
12 | g.6036473A>G | CA383520458 | VWF | c.2461T>C (p.Cys821Arg) n.421-42539T>C | |
12 | g.6036473A>T | CA383520459 | VWF | c.2461T>A (p.Cys821Ser) n.421-42539T>A | |
12 | g.6036474T>A | CA383520460 | VWF | c.2460A>T (p.Arg820Ser) n.421-42540A>T | gnomAD v4 |
12 | g.6036474T>C | CA478103188 | VWF | c.2460A>G (p.Arg820=) n.421-42540A>G | |
12 | g.6036474T>G | CA383520461 | VWF | c.2460A>C (p.Arg820Ser) n.421-42540A>C | gnomAD v4 |
12 | g.6036475C>A | CA383520462 | VWF | c.2459G>T (p.Arg820Ile) n.421-42541G>T | |
12 | g.6036475C>G | CA383520464 | VWF | c.2459G>C (p.Arg820Thr) n.421-42541G>C | |
12 | g.6036475C>T | CA383520463 | VWF | c.2459G>A (p.Arg820Lys) n.421-42541G>A | COSMIC |
12 | g.6036476T>A | CA383520465 | VWF | c.2458A>T (p.Arg820Ter) n.421-42542A>T | |
12 | g.6036476T>C | CA383520466 | VWF | c.2458A>G (p.Arg820Gly) n.421-42542A>G | |
12 | g.6036476T>G | CA478103190 | VWF | c.2458A>C (p.Arg820=) n.421-42542A>C | |
12 | g.6036477G>A | CA478103192 | VWF | c.2457C>T (p.Asn819=) n.421-42543C>T | |
12 | g.6036477G>C | CA383520467 | VWF | c.2457C>G (p.Asn819Lys) n.421-42543C>G | gnomAD v4 |
12 | g.6036477G>T | CA383520468 | VWF | c.2457C>A (p.Asn819Lys) n.421-42543C>A | |
12 | g.6036478T>A | CA383520469 | VWF | c.2456A>T (p.Asn819Ile) n.421-42544A>T | |
12 | g.6036478T>C | CA383520470 | VWF | c.2456A>G (p.Asn819Ser) n.421-42544A>G | |
12 | g.6036478T>G | CA383520471 | VWF | c.2456A>C (p.Asn819Thr) n.421-42544A>C | |
12 | g.6036479T>A | CA383520472 | VWF | c.2455A>T (p.Asn819Tyr) n.421-42545A>T | |
12 | g.6036479T>C | CA383520473 | VWF | c.2455A>G (p.Asn819Asp) n.421-42545A>G | |
12 | g.6036479T>G | CA383520474 | VWF | c.2455A>C (p.Asn819His) n.421-42545A>C | |
12 | g.6036480C>A | CA383520476 | VWF | c.2454G>T (p.Glu818Asp) n.421-42546G>T | |
12 | g.6036480C>G | CA383520475 | VWF | c.2454G>C (p.Glu818Asp) n.421-42546G>C | gnomAD v4 |
12 | g.6036480C>T | CA478103195 | VWF | c.2454G>A (p.Glu818=) n.421-42546G>A | dbSNP |
12 | g.6036481T>A | CA383520477 | VWF | c.2453A>T (p.Glu818Val) n.421-42547A>T | |
12 | g.6036481T>C | CA383520478 | VWF | c.2453A>G (p.Glu818Gly) n.421-42547A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6036481T>G | CA383520479 | VWF | c.2453A>C (p.Glu818Ala) n.421-42547A>C | |
12 | g.6036481T= | CA2013880945 | VWF | c.2453A= (p.Glu818=) n.421-42547A= | |
12 | g.6036482C>A | CA383520480 | VWF | c.2452G>T (p.Glu818Ter) n.421-42548G>T | |
12 | g.6036482C>G | CA383520481 | VWF | c.2452G>C (p.Glu818Gln) n.421-42548G>C | |
12 | g.6036482C>T | CA383520482 | VWF | c.2452G>A (p.Glu818Lys) n.421-42548G>A | |
12 | g.6036483A= | CA2013880946 | VWF | c.2451T= (p.His817=) n.421-42549T= | |
12 | g.6036483A>C | CA383520483 | VWF | c.2451T>G (p.His817Gln) n.421-42549T>G | gnomAD v4 |
12 | g.6036483A>G | CA478103199 | VWF | c.2451T>C (p.His817=) n.421-42549T>C | |
12 | g.6036483A>T | CA228345 | VWF | c.2451T>A (p.His817Gln) n.421-42549T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036484T>A | CA383520484 | VWF | c.2450A>T (p.His817Leu) n.421-42550A>T | gnomAD v4 |
12 | g.6036484T>C | CA6403057 | VWF | c.2450A>G (p.His817Arg) n.421-42550A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6036484T>G | CA383520485 | VWF | c.2450A>C (p.His817Pro) n.421-42550A>C | |
12 | g.6036484T= | CA2013880947 | VWF | c.2450A= (p.His817=) n.421-42550A= | |
12 | g.6036485G>A | CA383520486 | VWF | c.2449C>T (p.His817Tyr) n.421-42551C>T | |
12 | g.6036485G>C | CA383520487 | VWF | c.2449C>G (p.His817Asp) n.421-42551C>G | |
12 | g.6036485G>T | CA383520488 | VWF | c.2449C>A (p.His817Asn) n.421-42551C>A | |
12 | g.6036486C>A | CA478103201 | VWF | c.2448G>T (p.Arg816=) n.421-42552G>T | gnomAD v4 |
12 | g.6036486C= | CA2013880948 | VWF | c.2448G= (p.Arg816=) n.421-42552G= | |
12 | g.6036486C>G | CA478103202 | VWF | c.2448G>C (p.Arg816=) n.421-42552G>C | |
12 | g.6036486C>T | CA478103203 | VWF | c.2448G>A (p.Arg816=) n.421-42552G>A | dbSNP gnomAD v4 |
12 | g.6036487C>A | CA383520489 | VWF | c.2447G>T (p.Arg816Leu) n.421-42553G>T | |
12 | g.6036487C= | CA2013880949 | VWF | c.2447G= (p.Arg816=) n.421-42553G= | |
12 | g.6036487C>G | CA383520490 | VWF | c.2447G>C (p.Arg816Pro) n.421-42553G>C | |
12 | g.6036487C>T | CA228343 | VWF | c.2447G>A (p.Arg816Gln) n.421-42553G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036488G>A | CA114137 | VWF | c.2446C>T (p.Arg816Trp) n.421-42554C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036488G>C | CA383520491 | VWF | c.2446C>G (p.Arg816Gly) n.421-42554C>G | |
12 | g.6036488G= | CA2013880950 | VWF | c.2446C= (p.Arg816=) n.421-42554C= | |
12 | g.6036488G>T | CA478103205 | VWF | c.2446C>A (p.Arg816=) n.421-42554C>A | |
12 | g.6036489G>A | CA232299464 | VWF | c.2445C>T (p.Val815=) n.421-42555C>T | ClinVar dbSNP gnomAD v4 |
12 | g.6036489G>C | CA478103207 | VWF | c.2445C>G (p.Val815=) n.421-42555C>G | gnomAD v4 |
12 | g.6036489G= | CA2013880951 | VWF | c.2445C= (p.Val815=) n.421-42555C= | |
12 | g.6036489G>T | CA478103206 | VWF | c.2445C>A (p.Val815=) n.421-42555C>A | |
12 | g.6036490A>C | CA383520492 | VWF | c.2444T>G (p.Val815Gly) n.421-42556T>G | |
12 | g.6036490A>G | CA383520493 | VWF | c.2444T>C (p.Val815Ala) n.421-42556T>C | |
12 | g.6036490A>T | CA383520494 | VWF | c.2444T>A (p.Val815Asp) n.421-42556T>A | |
12 | g.6036491C>A | CA383520495 | VWF | c.2443G>T (p.Val815Phe) n.421-42557G>T | |
12 | g.6036491C= | CA2013880952 | VWF | c.2443G= (p.Val815=) n.421-42557G= | |
12 | g.6036491C>G | CA383520496 | VWF | c.2443G>C (p.Val815Leu) n.421-42557G>C | |
12 | g.6036491C>T | CA6403058 | VWF | c.2443G>A (p.Val815Ile) n.421-42557G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036492C>A | CA383520497 | VWF | c.2443-1G>T (n.2443-1G>T) n.421-42558G>T | |
12 | g.6036492C= | CA2013880953 | VWF | c.2443-1G= (n.2443-1G=) n.421-42558G= | |
12 | g.6036492C>G | CA228342 | VWF | c.2443-1G>C (n.2443-1G>C) n.421-42558G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6036492C>T | CA383520498 | VWF | c.2443-1G>A (n.2443-1G>A) n.421-42558G>A | |
12 | g.6036493T>A | CA383520500 | VWF | c.2443-2A>T (n.2443-2A>T) n.421-42559A>T | gnomAD v4 |
12 | g.6036493T>C | CA383520501 | VWF | c.2443-2A>G (n.2443-2A>G) n.421-42559A>G | |
12 | g.6036493T>G | CA383520499 | VWF | c.2443-2A>C (n.2443-2A>C) n.421-42559A>C | |
12 | g.6036494A= | CA2013880954 | VWF | c.2443-3T= (n.2443-3T=) n.421-42560T= | |
12 | g.6036494A>C | CA603102652 | VWF | c.2443-3T>G (n.2443-3T>G) n.421-42560T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036494A>G | CA2617231481 | VWF | c.2443-3T>C (n.2443-3T>C) n.421-42560T>C | gnomAD v4 |
12 | g.6036495A>T | CA2617231482 | VWF | c.2443-4T>A (n.2443-4T>A) n.421-42561T>A | gnomAD v4 |
12 | g.6036496G>C | CA603102653 | VWF | c.2443-5C>G (n.2443-5C>G) n.421-42562C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6036496G= | CA2013880955 | VWF | c.2443-5C= (n.2443-5C=) n.421-42562C= | |
12 | g.6036498G>A | CA232299466 | VWF | c.2443-7C>T (n.2443-7C>T) n.421-42564C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6036498G>C | CA232299465 | VWF | c.2443-7C>G (n.2443-7C>G) n.421-42564C>G | dbSNP gnomAD v4 |
12 | g.6036498G= | CA2013880956 | VWF | c.2443-7C= (n.2443-7C=) n.421-42564C= | |
12 | g.6036500A= | CA2013880957 | VWF | c.2443-9T= (n.2443-9T=) n.421-42566T= | |
12 | g.6036500A>T | CA603102654 | VWF | c.2443-9T>A (n.2443-9T>A) n.421-42566T>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6036502A>G | CA2617231483 | VWF | c.2443-11T>C (n.2443-11T>C) n.421-42568T>C | gnomAD v4 |
12 | g.6036503G= | CA2013880958 | VWF | c.2443-12C= (n.2443-12C=) n.421-42569C= | |
12 | g.6036503G>T | CA6403059 | VWF | c.2443-12C>A (n.2443-12C>A) n.421-42569C>A | dbSNP ExAC |
12 | g.6036506T>C | CA690493381 | VWF | c.2443-15A>G (n.2443-15A>G) n.421-42572A>G | dbSNP gnomAD v4 |
12 | g.6036506T>G | CA2617231484 | VWF | c.2443-15A>C (n.2443-15A>C) n.421-42572A>C | gnomAD v4 |
12 | g.6036506T= | CA2013880959 | VWF | c.2443-15A= (n.2443-15A=) n.421-42572A= | |
12 | g.6036507C= | CA2013880960 | VWF | c.2443-16G= (n.2443-16G=) n.421-42573G= | |
12 | g.6036507C>T | CA603102655 | VWF | c.2443-16G>A (n.2443-16G>A) n.421-42573G>A | dbSNP gnomAD v2 |
12 | g.6036508C>A | CA6403060 | VWF | c.2443-17G>T (n.2443-17G>T) n.421-42574G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6036508C= | CA2013880961 | VWF | c.2443-17G= (n.2443-17G=) n.421-42574G= | |
12 | g.6036508C>G | CA2575054163 | VWF | c.2443-17G>C (n.2443-17G>C) n.421-42574G>C | |
12 | g.6036508C>T | CA2617231485 | VWF | c.2443-17G>A (n.2443-17G>A) n.421-42574G>A | gnomAD v4 |