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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.6018311G>C | CA690499870 | VWF | c.5053+54C>G (n.5053+54C>G) n.421-24377C>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018311G= | CA2013872444 | VWF | c.5053+54C= (n.5053+54C=) n.421-24377C= | |
| 12 | g.6018311G>T | CA2617229748 | VWF | c.5053+54C>A (n.5053+54C>A) n.421-24377C>A | gnomAD v4 |
| 12 | g.6018312G>A | CA2617229749 | VWF | c.5053+53C>T (n.5053+53C>T) n.421-24378C>T | gnomAD v4 |
| 12 | g.6018312G>C | CA2575053879 | VWF | c.5053+53C>G (n.5053+53C>G) n.421-24378C>G | gnomAD v4 |
| 12 | g.6018312G= | CA2013872445 | VWF | c.5053+53C= (n.5053+53C=) n.421-24378C= | |
| 12 | g.6018312G>T | CA944318402 | VWF | c.5053+53C>A (n.5053+53C>A) n.421-24378C>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018313C>A | CA2617229750 | VWF | c.5053+52G>T (n.5053+52G>T) n.421-24379G>T | gnomAD v4 |
| 12 | g.6018313C>T | CA2575053880 | VWF | c.5053+52G>A (n.5053+52G>A) n.421-24379G>A | gnomAD v4 |
| 12 | g.6018314C>A | CA2617229751 | VWF | c.5053+51G>T (n.5053+51G>T) n.421-24380G>T | gnomAD v4 |
| 12 | g.6018314C>T | CA2794406257 | VWF | c.5053+51G>A (n.5053+51G>A) n.421-24380G>A | |
| 12 | g.6018315A>G | CA2617229752 | VWF | c.5053+50T>C (n.5053+50T>C) n.421-24381T>C | gnomAD v4 |
| 12 | g.6018315A>T | CA2617229753 | VWF | c.5053+50T>A (n.5053+50T>A) n.421-24381T>A | gnomAD v4 |
| 12 | g.6018316T>A | CA2537773931 | VWF | c.5053+49A>T (n.5053+49A>T) n.421-24382A>T | |
| 12 | g.6018316T>C | CA2617229754 | VWF | c.5053+49A>G (n.5053+49A>G) n.421-24382A>G | gnomAD v4 |
| 12 | g.6018316T= | CA2013872446 | VWF | c.5053+49A= (n.5053+49A=) n.421-24382A= | |
| 12 | g.6018317G>A | CA690499871 | VWF | c.5053+48C>T (n.5053+48C>T) n.421-24383C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018317G= | CA2013872447 | VWF | c.5053+48C= (n.5053+48C=) n.421-24383C= | |
| 12 | g.6018317G>T | CA2617229758 | VWF | c.5053+48C>A (n.5053+48C>A) n.421-24383C>A | gnomAD v4 |
| 12 | g.6018317_6018327dup | CA2013872449 | VWF | c.5053+38_5053+48dup (n.5053+38_5053+48dup) n.421-24393_421-24383dup | dbSNP gnomAD v4 |
| 12 | g.6018317_6018328delinsGCCAGCCCTCGC | CA2013872448 | VWF | c.5053+37_5053+48delinsGCGAGGGCTGGC (n.5053+37_5053+48delinsGCGAGGGCTGGC) n.421-24394_421-24383delinsGCGAGGGCTGGC | |
| 12 | g.6018318C>A | CA944318404 | VWF | c.5053+47G>T (n.5053+47G>T) n.421-24384G>T | gnomAD v3 gnomAD v4 |
| 12 | g.6018318C= | CA2013872450 | VWF | c.5053+47G= (n.5053+47G=) n.421-24384G= | |
| 12 | g.6018318C>T | CA690499873 | VWF | c.5053+47G>A (n.5053+47G>A) n.421-24384G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018327_6018337dup | CA2617229762 | VWF | c.5053+37_5053+47dup (n.5053+37_5053+47dup) n.421-24394_421-24384dup | gnomAD v4 |
| 12 | g.6018327_6018337del | CA944318403 | VWF | c.5053+37_5053+47del (n.5053+37_5053+47del) n.421-24394_421-24384del | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018319C>A | CA2617229768 | VWF | c.5053+46G>T (n.5053+46G>T) n.421-24385G>T | gnomAD v4 |
| 12 | g.6018321G>A | CA2617229769 | VWF | c.5053+44C>T (n.5053+44C>T) n.421-24387C>T | gnomAD v4 |
| 12 | g.6018321G>T | CA2617229770 | VWF | c.5053+44C>A (n.5053+44C>A) n.421-24387C>A | gnomAD v4 |
| 12 | g.6018322C>A | CA2617229772 | VWF | c.5053+43G>T (n.5053+43G>T) n.421-24388G>T | gnomAD v4 |
| 12 | g.6018322C= | CA2013872451 | VWF | c.5053+43G= (n.5053+43G=) n.421-24388G= | |
| 12 | g.6018322C>T | CA603482943 | VWF | c.5053+43G>A (n.5053+43G>A) n.421-24388G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018323C>A | CA2617229775 | VWF | c.5053+42G>T (n.5053+42G>T) n.421-24389G>T | gnomAD v4 |
| 12 | g.6018323C= | CA2013872452 | VWF | c.5053+42G= (n.5053+42G=) n.421-24389G= | |
| 12 | g.6018323C>T | CA603482944 | VWF | c.5053+42G>A (n.5053+42G>A) n.421-24389G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018324C= | CA2013872453 | VWF | c.5053+41G= (n.5053+41G=) n.421-24390G= | |
| 12 | g.6018324C>G | CA2575053881 | VWF | c.5053+41G>C (n.5053+41G>C) n.421-24390G>C | |
| 12 | g.6018324C>T | CA6402406 | VWF | c.5053+41G>A (n.5053+41G>A) n.421-24390G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6018325T>C | CA6402407 | VWF | c.5053+40A>G (n.5053+40A>G) n.421-24391A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6018325T= | CA2013872454 | VWF | c.5053+40A= (n.5053+40A=) n.421-24391A= | |
| 12 | g.6018326C>A | CA2617229783 | VWF | c.5053+39G>T (n.5053+39G>T) n.421-24392G>T | gnomAD v4 |
| 12 | g.6018326C= | CA2013872455 | VWF | c.5053+39G= (n.5053+39G=) n.421-24392G= | |
| 12 | g.6018326C>T | CA603482945 | VWF | c.5053+39G>A (n.5053+39G>A) n.421-24392G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018327G>A | CA6402408 | VWF | c.5053+38C>T (n.5053+38C>T) n.421-24393C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018327G= | CA2013872456 | VWF | c.5053+38C= (n.5053+38C=) n.421-24393C= | |
| 12 | g.6018327G>T | CA2617229787 | VWF | c.5053+38C>A (n.5053+38C>A) n.421-24393C>A | gnomAD v4 |
| 12 | g.6018328C>A | CA2581068924 | VWF | c.5053+37G>T (n.5053+37G>T) n.421-24394G>T | gnomAD v4 |
| 12 | g.6018328C= | CA2013872457 | VWF | c.5053+37G= (n.5053+37G=) n.421-24394G= | |
| 12 | g.6018328C>G | CA2581068923 | VWF | c.5053+37G>C (n.5053+37G>C) n.421-24394G>C | |
| 12 | g.6018328C>T | CA6402409 | VWF | c.5053+37G>A (n.5053+37G>A) n.421-24394G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018330C>A | CA2617229795 | VWF | c.5053+35G>T (n.5053+35G>T) n.421-24396G>T | gnomAD v4 |
| 12 | g.6018330C>G | CA2575053882 | VWF | c.5053+35G>C (n.5053+35G>C) n.421-24396G>C | gnomAD v4 |
| 12 | g.6018332G>A | CA2013872458 | VWF | c.5053+33C>T (n.5053+33C>T) n.421-24398C>T | dbSNP gnomAD v4 |
| 12 | g.6018332G= | CA2013872459 | VWF | c.5053+33C= (n.5053+33C=) n.421-24398C= | |
| 12 | g.6018332G>T | CA2617229797 | VWF | c.5053+33C>A (n.5053+33C>A) n.421-24398C>A | gnomAD v4 |
| 12 | g.6018333C>A | CA6402411 | VWF | c.5053+32G>T (n.5053+32G>T) n.421-24399G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018333C= | CA2013872460 | VWF | c.5053+32G= (n.5053+32G=) n.421-24399G= | |
| 12 | g.6018333C>T | CA2575053883 | VWF | c.5053+32G>A (n.5053+32G>A) n.421-24399G>A | gnomAD v4 |
| 12 | g.6018334C>A | CA2617229802 | VWF | c.5053+31G>T (n.5053+31G>T) n.421-24400G>T | gnomAD v4 |
| 12 | g.6018334C>T | CA2617229803 | VWF | c.5053+31G>A (n.5053+31G>A) n.421-24400G>A | gnomAD v4 |
| 12 | g.6018336_6018338dup | CA6402410 | VWF | c.5053+29_5053+31dup (n.5053+29_5053+31dup) n.421-24402_421-24400dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018335C= | CA2013872461 | VWF | c.5053+30G= (n.5053+30G=) n.421-24401G= | |
| 12 | g.6018335C>G | CA603482946 | VWF | c.5053+30G>C (n.5053+30G>C) n.421-24401G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018336T>C | CA2617229807 | VWF | c.5053+29A>G (n.5053+29A>G) n.421-24402A>G | gnomAD v4 |
| 12 | g.6018336_6018337delinsTC | CA2013872462 | VWF | c.5053+28_5053+29delinsGA (n.5053+28_5053+29delinsGA) n.421-24403_421-24402delinsGA | |
| 12 | g.6018337C>A | CA2617229809 | VWF | c.5053+28G>T (n.5053+28G>T) n.421-24403G>T | gnomAD v4 |
| 12 | g.6018339del | CA603482947 | VWF | c.5053+28del (n.5053+28del) n.421-24403del | dbSNP gnomAD v2 |
| 12 | g.6018338C= | CA2013872463 | VWF | c.5053+27G= (n.5053+27G=) n.421-24404G= | |
| 12 | g.6018338C>G | CA603482948 | VWF | c.5053+27G>C (n.5053+27G>C) n.421-24404G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018339C>A | CA603482950 | VWF | c.5053+26G>T (n.5053+26G>T) n.421-24405G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018339C= | CA2013872464 | VWF | c.5053+26G= (n.5053+26G=) n.421-24405G= | |
| 12 | g.6018339C>T | CA603482949 | VWF | c.5053+26G>A (n.5053+26G>A) n.421-24405G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018341C>A | CA2575053884 | VWF | c.5053+24G>T (n.5053+24G>T) n.421-24407G>T | gnomAD v4 |
| 12 | g.6018341C= | CA2013872465 | VWF | c.5053+24G= (n.5053+24G=) n.421-24407G= | |
| 12 | g.6018341C>G | CA944318410 | VWF | c.5053+24G>C (n.5053+24G>C) n.421-24407G>C | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018341C>T | CA2575053885 | VWF | c.5053+24G>A (n.5053+24G>A) n.421-24407G>A | |
| 12 | g.6018342C= | CA2013872466 | VWF | c.5053+23G= (n.5053+23G=) n.421-24408G= | |
| 12 | g.6018342C>T | CA603482951 | VWF | c.5053+23G>A (n.5053+23G>A) n.421-24408G>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018343T>C | CA232297750 | VWF | c.5053+22A>G (n.5053+22A>G) n.421-24409A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018343T= | CA2013872467 | VWF | c.5053+22A= (n.5053+22A=) n.421-24409A= | |
| 12 | g.6018344G>A | CA2617229820 | VWF | c.5053+21C>T (n.5053+21C>T) n.421-24410C>T | gnomAD v4 |
| 12 | g.6018344G= | CA2013872468 | VWF | c.5053+21C= (n.5053+21C=) n.421-24410C= | |
| 12 | g.6018344G>T | CA6402412 | VWF | c.5053+21C>A (n.5053+21C>A) n.421-24410C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018345C>A | CA2617229823 | VWF | c.5053+20G>T (n.5053+20G>T) n.421-24411G>T | gnomAD v4 |
| 12 | g.6018346A= | CA2013872469 | VWF | c.5053+19T= (n.5053+19T=) n.421-24412T= | |
| 12 | g.6018346A>G | CA232297751 | VWF | c.5053+19T>C (n.5053+19T>C) n.421-24412T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018346A>T | CA2617229825 | VWF | c.5053+19T>A (n.5053+19T>A) n.421-24412T>A | gnomAD v4 |
| 12 | g.6018347C= | CA2013872470 | VWF | c.5053+18G= (n.5053+18G=) n.421-24413G= | |
| 12 | g.6018347C>T | CA6402413 | VWF | c.5053+18G>A (n.5053+18G>A) n.421-24413G>A | dbSNP ExAC gnomAD v4 |
| 12 | g.6018348A= | CA2013872471 | VWF | c.5053+17T= (n.5053+17T=) n.421-24414T= | |
| 12 | g.6018348A>C | CA2617229832 | VWF | c.5053+17T>G (n.5053+17T>G) n.421-24414T>G | gnomAD v4 |
| 12 | g.6018348A>G | CA603482952 | VWF | c.5053+17T>C (n.5053+17T>C) n.421-24414T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018349C>A | CA2617229837 | VWF | c.5053+16G>T (n.5053+16G>T) n.421-24415G>T | gnomAD v4 |
| 12 | g.6018349C>G | CA2617229839 | VWF | c.5053+16G>C (n.5053+16G>C) n.421-24415G>C | gnomAD v4 |
| 12 | g.6018349C>T | CA944318414 | VWF | c.5053+16G>A (n.5053+16G>A) n.421-24415G>A | gnomAD v3 gnomAD v4 |
| 12 | g.6018350A>G | CA2841783087 | VWF | c.5053+15T>C (n.5053+15T>C) n.421-24416T>C | |
| 12 | g.6018351A>G | CA2838805429 | VWF | c.5053+14T>C (n.5053+14T>C) n.421-24417T>C | |
| 12 | g.6018351A>T | CA2617229842 | VWF | c.5053+14T>A (n.5053+14T>A) n.421-24417T>A | gnomAD v4 |
| 12 | g.6018352G>A | CA2617229843 | VWF | c.5053+13C>T (n.5053+13C>T) n.421-24418C>T | gnomAD v4 |
| 12 | g.6018352G>T | CA2617229844 | VWF | c.5053+13C>A (n.5053+13C>A) n.421-24418C>A | gnomAD v4 |
| 12 | g.6018353G>A | CA2841783088 | VWF | c.5053+12C>T (n.5053+12C>T) n.421-24419C>T | |
| 12 | g.6018353G>T | CA2617229845 | VWF | c.5053+12C>A (n.5053+12C>A) n.421-24419C>A | gnomAD v4 |
| 12 | g.6018355G>A | CA2575053886 | VWF | c.5053+10C>T (n.5053+10C>T) n.421-24421C>T | gnomAD v4 |
| 12 | g.6018355G>C | CA2617229849 | VWF | c.5053+10C>G (n.5053+10C>G) n.421-24421C>G | gnomAD v4 |
| 12 | g.6018355G>T | CA2617229847 | VWF | c.5053+10C>A (n.5053+10C>A) n.421-24421C>A | gnomAD v4 |
| 12 | g.6018356C>A | CA2617229854 | VWF | c.5053+9G>T (n.5053+9G>T) n.421-24422G>T | gnomAD v4 |
| 12 | g.6018356C= | CA2013872472 | VWF | c.5053+9G= (n.5053+9G=) n.421-24422G= | |
| 12 | g.6018356C>T | CA6402414 | VWF | c.5053+9G>A (n.5053+9G>A) n.421-24422G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018357del | CA2617229852 | VWF | c.5053+9del (n.5053+9del) n.421-24422del | gnomAD v4 |
| 12 | g.6018357C>A | CA603482953 | VWF | c.5053+8G>T (n.5053+8G>T) n.421-24423G>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018357C= | CA2013872473 | VWF | c.5053+8G= (n.5053+8G=) n.421-24423G= | |
| 12 | g.6018357C>T | CA232297752 | VWF | c.5053+8G>A (n.5053+8G>A) n.421-24423G>A | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018358del | CA2794406261 | VWF | c.5053+7del (n.5053+7del) n.421-24424del | |
| 12 | g.6018358A= | CA2013872474 | VWF | c.5053+7T= (n.5053+7T=) n.421-24424T= | |
| 12 | g.6018358A>G | CA603482954 | VWF | c.5053+7T>C (n.5053+7T>C) n.421-24424T>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018358A>T | CA2617229860 | VWF | c.5053+7T>A (n.5053+7T>A) n.421-24424T>A | gnomAD v4 |
| 12 | g.6018359G>A | CA2838805446 | VWF | c.5053+6C>T (n.5053+6C>T) n.421-24425C>T | |
| 12 | g.6018359G>T | CA2617229862 | VWF | c.5053+6C>A (n.5053+6C>A) n.421-24425C>A | gnomAD v4 |
| 12 | g.6018360del | CA2575053887 | VWF | c.5053+5del (n.5053+5del) n.421-24426del | gnomAD v4 |
| 12 | g.6018360C>A | CA944318423 | VWF | c.5053+5G>T (n.5053+5G>T) n.421-24426G>T | gnomAD v3 gnomAD v4 |
| 12 | g.6018360C= | CA2013872475 | VWF | c.5053+5G= (n.5053+5G=) n.421-24426G= | |
| 12 | g.6018360C>G | CA603482955 | VWF | c.5053+5G>C (n.5053+5G>C) n.421-24426G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018361A= | CA2013872476 | VWF | c.5053+4T= (n.5053+4T=) n.421-24427T= | |
| 12 | g.6018361A>G | CA6402415 | VWF | c.5053+4T>C (n.5053+4T>C) n.421-24427T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6018362T>A | CA2617229868 | VWF | c.5053+3A>T (n.5053+3A>T) n.421-24428A>T | gnomAD v4 |
| 12 | g.6018362T>C | CA690499945 | VWF | c.5053+3A>G (n.5053+3A>G) n.421-24428A>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018362T= | CA2013872477 | VWF | c.5053+3A= (n.5053+3A=) n.421-24428A= | |
| 12 | g.6018363A>C | CA383498418 | VWF | c.5053+2T>G (n.5053+2T>G) n.421-24429T>G | |
| 12 | g.6018363A>G | CA383498419 | VWF | c.5053+2T>C (n.5053+2T>C) n.421-24429T>C | |
| 12 | g.6018363A>T | CA383498420 | VWF | c.5053+2T>A (n.5053+2T>A) n.421-24429T>A | |
| 12 | g.6018364C>A | CA228701 | VWF | c.5053+1G>T (n.5053+1G>T) n.421-24430G>T | ClinVar dbSNP |
| 12 | g.6018364C= | CA2013872478 | VWF | c.5053+1G= (n.5053+1G=) n.421-24430G= | |
| 12 | g.6018364C>G | CA383498421 | VWF | c.5053+1G>C (n.5053+1G>C) n.421-24430G>C | |
| 12 | g.6018364C>T | CA228700 | VWF | c.5053+1G>A (n.5053+1G>A) n.421-24430G>A | ClinVar dbSNP |
| 12 | g.6018365C>A | CA383498424 | VWF | c.5053G>T (p.Asp1685Tyr) n.421-24431G>T | |
| 12 | g.6018365C>G | CA383498423 | VWF | c.5053G>C (p.Asp1685His) n.421-24431G>C | gnomAD v4 |
| 12 | g.6018365C>T | CA383498422 | VWF | c.5053G>A (p.Asp1685Asn) n.421-24431G>A | |
| 12 | g.6018366A>C | CA478493933 | VWF | c.5052T>G (p.Pro1684=) n.421-24432T>G | |
| 12 | g.6018366A>G | CA478493931 | VWF | c.5052T>C (p.Pro1684=) n.421-24432T>C | |
| 12 | g.6018366A>T | CA478493932 | VWF | c.5052T>A (p.Pro1684=) n.421-24432T>A | gnomAD v4 |
| 12 | g.6018367G>A | CA383498425 | VWF | c.5051C>T (p.Pro1684Leu) n.421-24433C>T | gnomAD v4 |
| 12 | g.6018367G>C | CA6402416 | VWF | c.5051C>G (p.Pro1684Arg) n.421-24433C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6018367G= | CA2013872479 | VWF | c.5051C= (p.Pro1684=) n.421-24433C= | |
| 12 | g.6018367G>T | CA383498426 | VWF | c.5051C>A (p.Pro1684His) n.421-24433C>A | gnomAD v4 |
| 12 | g.6018368G>A | CA383498427 | VWF | c.5050C>T (p.Pro1684Ser) n.421-24434C>T | gnomAD v4 |
| 12 | g.6018368G>C | CA383498428 | VWF | c.5050C>G (p.Pro1684Ala) n.421-24434C>G | |
| 12 | g.6018368G>T | CA383498429 | VWF | c.5050C>A (p.Pro1684Thr) n.421-24434C>A | gnomAD v4 |
| 12 | g.6018369T>A | CA478493934 | VWF | c.5049A>T (p.Ala1683=) n.421-24435A>T | |
| 12 | g.6018369T>C | CA6402417 | VWF | c.5049A>G (p.Ala1683=) n.421-24435A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.6018369T>G | CA10604008 | VWF | c.5049A>C (p.Ala1683=) n.421-24435A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018369T= | CA2013872480 | VWF | c.5049A= (p.Ala1683=) n.421-24435A= | |
| 12 | g.6018370G>A | CA383498430 | VWF | c.5048C>T (p.Ala1683Val) n.421-24436C>T | gnomAD v4 |
| 12 | g.6018370G>C | CA383498431 | VWF | c.5048C>G (p.Ala1683Gly) n.421-24436C>G | |
| 12 | g.6018370G>T | CA383498432 | VWF | c.5048C>A (p.Ala1683Glu) n.421-24436C>A | gnomAD v4 |
| 12 | g.6018371C>A | CA383498433 | VWF | c.5047G>T (p.Ala1683Ser) n.421-24437G>T | gnomAD v4 |
| 12 | g.6018371C= | CA2013872481 | VWF | c.5047G= (p.Ala1683=) n.421-24437G= | |
| 12 | g.6018371C>G | CA383498434 | VWF | c.5047G>C (p.Ala1683Pro) n.421-24437G>C | gnomAD v4 |
| 12 | g.6018371C>T | CA6402418 | VWF | c.5047G>A (p.Ala1683Thr) n.421-24437G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018372del | CA2695216017 | VWF | c.5046del (p.Ala1683HisfsTer10) n.421-24438del | |
| 12 | g.6018372A>C | CA478493935 | VWF | c.5046T>G (p.Pro1682=) n.421-24438T>G | |
| 12 | g.6018372A>G | CA478493936 | VWF | c.5046T>C (p.Pro1682=) n.421-24438T>C | gnomAD v4 |
| 12 | g.6018372A>T | CA478493937 | VWF | c.5046T>A (p.Pro1682=) n.421-24438T>A | gnomAD v3 gnomAD v4 |
| 12 | g.6018373G>A | CA383498437 | VWF | c.5045C>T (p.Pro1682Leu) n.421-24439C>T | gnomAD v4 COSMIC |
| 12 | g.6018373G>C | CA383498436 | VWF | c.5045C>G (p.Pro1682Arg) n.421-24439C>G | gnomAD v4 |
| 12 | g.6018373G>T | CA383498435 | VWF | c.5045C>A (p.Pro1682His) n.421-24439C>A | gnomAD v4 |
| 12 | g.6018374G>A | CA242930 | VWF | c.5044C>T (p.Pro1682Ser) n.421-24440C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.6018374G>C | CA383498438 | VWF | c.5044C>G (p.Pro1682Ala) n.421-24440C>G | |
| 12 | g.6018374G= | CA2013872482 | VWF | c.5044C= (p.Pro1682=) n.421-24440C= | |
| 12 | g.6018374G>T | CA383498439 | VWF | c.5044C>A (p.Pro1682Thr) n.421-24440C>A | gnomAD v4 |
| 12 | g.6018375G>A | CA478493939 | VWF | c.5043C>T (p.Ser1681=) n.421-24441C>T | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.6018375G>C | CA478493940 | VWF | c.5043C>G (p.Ser1681=) n.421-24441C>G | |
| 12 | g.6018375G= | CA2013872483 | VWF | c.5043C= (p.Ser1681=) n.421-24441C= | |
| 12 | g.6018375G>T | CA478493938 | VWF | c.5043C>A (p.Ser1681=) n.421-24441C>A | gnomAD v4 |
| 12 | g.6018376G>A | CA383498440 | VWF | c.5042C>T (p.Ser1681Phe) n.421-24442C>T | gnomAD v4 |
| 12 | g.6018376G>C | CA383498441 | VWF | c.5042C>G (p.Ser1681Cys) n.421-24442C>G | |
| 12 | g.6018376G>T | CA383498442 | VWF | c.5042C>A (p.Ser1681Tyr) n.421-24442C>A | gnomAD v4 |
| 12 | g.6018377A>C | CA383498445 | VWF | c.5041T>G (p.Ser1681Ala) n.421-24443T>G | |
| 12 | g.6018377A>G | CA383498444 | VWF | c.5041T>C (p.Ser1681Pro) n.421-24443T>C | |
| 12 | g.6018377A>T | CA383498443 | VWF | c.5041T>A (p.Ser1681Thr) n.421-24443T>A | |
| 12 | g.6018378G>A | CA478493941 | VWF | c.5040C>T (p.Leu1680=) n.421-24444C>T | gnomAD v4 |
| 12 | g.6018378G>C | CA478493942 | VWF | c.5040C>G (p.Leu1680=) n.421-24444C>G | |
| 12 | g.6018378G>T | CA478493943 | VWF | c.5040C>A (p.Leu1680=) n.421-24444C>A | gnomAD v4 |
| 12 | g.6018379A= | CA2013872484 | VWF | c.5039T= (p.Leu1680=) n.421-24445T= | |
| 12 | g.6018379A>C | CA232297753 | VWF | c.5039T>G (p.Leu1680Arg) n.421-24445T>G | dbSNP gnomAD v4 |
| 12 | g.6018379A>G | CA383498446 | VWF | c.5039T>C (p.Leu1680Pro) n.421-24445T>C | |
| 12 | g.6018379A>T | CA383498447 | VWF | c.5039T>A (p.Leu1680His) n.421-24445T>A | |
| 12 | g.6018380G>A | CA6402419 | VWF | c.5038C>T (p.Leu1680Phe) n.421-24446C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018380G>C | CA383498448 | VWF | c.5038C>G (p.Leu1680Val) n.421-24446C>G | dbSNP gnomAD v4 |
| 12 | g.6018380G= | CA2013872485 | VWF | c.5038C= (p.Leu1680=) n.421-24446C= | |
| 12 | g.6018380G>T | CA383498449 | VWF | c.5038C>A (p.Leu1680Ile) n.421-24446C>A | gnomAD v4 COSMIC |
| 12 | g.6018381G>A | CA478493944 | VWF | c.5037C>T (p.Thr1679=) n.421-24447C>T | gnomAD v4 |
| 12 | g.6018381G>C | CA478493945 | VWF | c.5037C>G (p.Thr1679=) n.421-24447C>G | |
| 12 | g.6018381G>T | CA478493946 | VWF | c.5037C>A (p.Thr1679=) n.421-24447C>A | gnomAD v4 |
| 12 | g.6018382G>A | CA383498450 | VWF | c.5036C>T (p.Thr1679Ile) n.421-24448C>T | dbSNP gnomAD v4 |
| 12 | g.6018382G>C | CA383498452 | VWF | c.5036C>G (p.Thr1679Ser) n.421-24448C>G | |
| 12 | g.6018382G= | CA2013872486 | VWF | c.5036C= (p.Thr1679=) n.421-24448C= | |
| 12 | g.6018382G>T | CA383498451 | VWF | c.5036C>A (p.Thr1679Asn) n.421-24448C>A | gnomAD v4 |
| 12 | g.6018383T>A | CA383498453 | VWF | c.5035A>T (p.Thr1679Ser) n.421-24449A>T | |
| 12 | g.6018383T>C | CA6402420 | VWF | c.5035A>G (p.Thr1679Ala) n.421-24449A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018383T>G | CA383498454 | VWF | c.5035A>C (p.Thr1679Pro) n.421-24449A>C | |
| 12 | g.6018383T= | CA2013872487 | VWF | c.5035A= (p.Thr1679=) n.421-24449A= | |
| 12 | g.6018384G>A | CA478493947 | VWF | c.5034C>T (p.Pro1678=) n.421-24450C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018384G>C | CA478493948 | VWF | c.5034C>G (p.Pro1678=) n.421-24450C>G | gnomAD v4 |
| 12 | g.6018384G= | CA2013872488 | VWF | c.5034C= (p.Pro1678=) n.421-24450C= | |
| 12 | g.6018384G>T | CA478493949 | VWF | c.5034C>A (p.Pro1678=) n.421-24450C>A | gnomAD v4 |
| 12 | g.6018387dup | CA2617229968 | VWF | c.5034dup (p.Thr1679HisfsTer7) n.421-24450dup | gnomAD v4 |
| 12 | g.6018387del | CA2617229966 | VWF | c.5034del (p.Thr1679ProfsTer14) n.421-24450del | gnomAD v4 |
| 12 | g.6018385G>A | CA383498455 | VWF | c.5033C>T (p.Pro1678Leu) n.421-24451C>T | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018385G>C | CA383498456 | VWF | c.5033C>G (p.Pro1678Arg) n.421-24451C>G | |
| 12 | g.6018385G= | CA2013872489 | VWF | c.5033C= (p.Pro1678=) n.421-24451C= | |
| 12 | g.6018385G>T | CA383498457 | VWF | c.5033C>A (p.Pro1678His) n.421-24451C>A | |
| 12 | g.6018386G>A | CA383498458 | VWF | c.5032C>T (p.Pro1678Ser) n.421-24452C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018386G>C | CA383498459 | VWF | c.5032C>G (p.Pro1678Ala) n.421-24452C>G | |
| 12 | g.6018386G= | CA2013872490 | VWF | c.5032C= (p.Pro1678=) n.421-24452C= | |
| 12 | g.6018386G>T | CA383498460 | VWF | c.5032C>A (p.Pro1678Thr) n.421-24452C>A | gnomAD v4 |
| 12 | g.6018387G>A | CA6402421 | VWF | c.5031C>T (p.Ile1677=) n.421-24453C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018387G>C | CA383498461 | VWF | c.5031C>G (p.Ile1677Met) n.421-24453C>G | |
| 12 | g.6018387G= | CA2013872491 | VWF | c.5031C= (p.Ile1677=) n.421-24453C= | |
| 12 | g.6018387G>T | CA478493950 | VWF | c.5031C>A (p.Ile1677=) n.421-24453C>A | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018388A>C | CA383498462 | VWF | c.5030T>G (p.Ile1677Ser) n.421-24454T>G | |
| 12 | g.6018388A>G | CA383498464 | VWF | c.5030T>C (p.Ile1677Thr) n.421-24454T>C | gnomAD v4 |
| 12 | g.6018388A>T | CA383498463 | VWF | c.5030T>A (p.Ile1677Asn) n.421-24454T>A | |
| 12 | g.6018389T>A | CA383498465 | VWF | c.5029A>T (p.Ile1677Phe) n.421-24455A>T | gnomAD v4 |
| 12 | g.6018389T>C | CA383498466 | VWF | c.5029A>G (p.Ile1677Val) n.421-24455A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018389T>G | CA383498467 | VWF | c.5029A>C (p.Ile1677Leu) n.421-24455A>C | |
| 12 | g.6018389T= | CA2013872492 | VWF | c.5029A= (p.Ile1677=) n.421-24455A= | |
| 12 | g.6018397_6018423del | CA2617229996 | VWF | c.5003_5029del (p.Arg1668_Gln1676del) n.421-24481_421-24455del | gnomAD v4 |
| 12 | g.6018390C>A | CA383498468 | VWF | c.5028G>T (p.Gln1676His) n.421-24456G>T | gnomAD v4 |
| 12 | g.6018390C>G | CA383498469 | VWF | c.5028G>C (p.Gln1676His) n.421-24456G>C | |
| 12 | g.6018390C>T | CA478493951 | VWF | c.5028G>A (p.Gln1676=) n.421-24456G>A | gnomAD v4 |
| 12 | g.6018391T>A | CA383498470 | VWF | c.5027A>T (p.Gln1676Leu) n.421-24457A>T | |
| 12 | g.6018391T>C | CA383498471 | VWF | c.5027A>G (p.Gln1676Arg) n.421-24457A>G | gnomAD v4 |
| 12 | g.6018391T>G | CA383498472 | VWF | c.5027A>C (p.Gln1676Pro) n.421-24457A>C | |
| 12 | g.6018392G>A | CA383498473 | VWF | c.5026C>T (p.Gln1676Ter) n.421-24458C>T | dbSNP gnomAD v4 |
| 12 | g.6018392G>C | CA383498475 | VWF | c.5026C>G (p.Gln1676Glu) n.421-24458C>G | |
| 12 | g.6018392G= | CA2013872493 | VWF | c.5026C= (p.Gln1676=) n.421-24458C= | |
| 12 | g.6018392G>T | CA383498474 | VWF | c.5026C>A (p.Gln1676Lys) n.421-24458C>A | gnomAD v4 |
| 12 | g.6018393C>A | CA478493952 | VWF | c.5025G>T (p.Leu1675=) n.421-24459G>T | |
| 12 | g.6018393C>G | CA478493953 | VWF | c.5025G>C (p.Leu1675=) n.421-24459G>C | |
| 12 | g.6018393C>T | CA478493954 | VWF | c.5025G>A (p.Leu1675=) n.421-24459G>A | dbSNP gnomAD v4 |
| 12 | g.6018394A>C | CA383498476 | VWF | c.5024T>G (p.Leu1675Arg) n.421-24460T>G | |
| 12 | g.6018394A>G | CA383498477 | VWF | c.5024T>C (p.Leu1675Pro) n.421-24460T>C | |
| 12 | g.6018394A>T | CA383498478 | VWF | c.5024T>A (p.Leu1675Gln) n.421-24460T>A | |
| 12 | g.6018394_6018395delinsAG | CA2013872494 | VWF | c.5023_5024delinsCT (p.Leu1675=) n.421-24461_421-24460delinsCT | |
| 12 | g.6018394_6018395delinsTA | CA228698 | VWF | c.5023_5024delinsTA (p.Leu1675Ter) n.421-24461_421-24460delinsTA | ClinVar dbSNP |
| 12 | g.6018395G>A | CA6402422 | VWF | c.5023C>T (p.Leu1675=) n.421-24461C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018395G>C | CA383498480 | VWF | c.5023C>G (p.Leu1675Val) n.421-24461C>G | |
| 12 | g.6018395G= | CA2013872495 | VWF | c.5023C= (p.Leu1675=) n.421-24461C= | |
| 12 | g.6018395G>T | CA383498479 | VWF | c.5023C>A (p.Leu1675Met) n.421-24461C>A | |
| 12 | g.6018396C>A | CA478493955 | VWF | c.5022G>T (p.Gly1674=) n.421-24462G>T | |
| 12 | g.6018396C= | CA2013872496 | VWF | c.5022G= (p.Gly1674=) n.421-24462G= | |
| 12 | g.6018396C>G | CA478493956 | VWF | c.5022G>C (p.Gly1674=) n.421-24462G>C | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.6018396C>T | CA478493957 | VWF | c.5022G>A (p.Gly1674=) n.421-24462G>A | |
| 12 | g.6018397C>A | CA383498481 | VWF | c.5021G>T (p.Gly1674Val) n.421-24463G>T | |
| 12 | g.6018397C>G | CA383498482 | VWF | c.5021G>C (p.Gly1674Ala) n.421-24463G>C | |
| 12 | g.6018397C>T | CA383498483 | VWF | c.5021G>A (p.Gly1674Glu) n.421-24463G>A | COSMIC |
| 12 | g.6018398C>A | CA383498484 | VWF | c.5020G>T (p.Gly1674Trp) n.421-24464G>T | |
| 12 | g.6018398C>G | CA383498485 | VWF | c.5020G>C (p.Gly1674Arg) n.421-24464G>C | |
| 12 | g.6018398C>T | CA383498486 | VWF | c.5020G>A (p.Gly1674Arg) n.421-24464G>A | gnomAD v4 |
| 12 | g.6018399C>A | CA383498487 | VWF | c.5019G>T (p.Glu1673Asp) n.421-24465G>T | gnomAD v4 |
| 12 | g.6018399C= | CA2013872497 | VWF | c.5019G= (p.Glu1673=) n.421-24465G= | |
| 12 | g.6018399C>G | CA383498488 | VWF | c.5019G>C (p.Glu1673Asp) n.421-24465G>C | |
| 12 | g.6018399C>T | CA478493958 | VWF | c.5019G>A (p.Glu1673=) n.421-24465G>A | dbSNP |
| 12 | g.6018400T>A | CA383498489 | VWF | c.5018A>T (p.Glu1673Val) n.421-24466A>T | |
| 12 | g.6018400T>C | CA383498490 | VWF | c.5018A>G (p.Glu1673Gly) n.421-24466A>G | |
| 12 | g.6018400T>G | CA383498491 | VWF | c.5018A>C (p.Glu1673Ala) n.421-24466A>C | |
| 12 | g.6018401C>A | CA383498492 | VWF | c.5017G>T (p.Glu1673Ter) n.421-24467G>T | |
| 12 | g.6018401C= | CA2013872498 | VWF | c.5017G= (p.Glu1673=) n.421-24467G= | |
| 12 | g.6018401C>G | CA383498493 | VWF | c.5017G>C (p.Glu1673Gln) n.421-24467G>C | |
| 12 | g.6018401C>T | CA6402423 | VWF | c.5017G>A (p.Glu1673Lys) n.421-24467G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018402T>A | CA478493961 | VWF | c.5016A>T (p.Gly1672=) n.421-24468A>T | |
| 12 | g.6018402T>C | CA478493960 | VWF | c.5016A>G (p.Gly1672=) n.421-24468A>G | gnomAD v4 |
| 12 | g.6018402T>G | CA478493959 | VWF | c.5016A>C (p.Gly1672=) n.421-24468A>C | |
| 12 | g.6018403C>A | CA383498494 | VWF | c.5015G>T (p.Gly1672Val) n.421-24469G>T | |
| 12 | g.6018403C>G | CA383498495 | VWF | c.5015G>C (p.Gly1672Ala) n.421-24469G>C | gnomAD v4 |
| 12 | g.6018403C>T | CA383498496 | VWF | c.5015G>A (p.Gly1672Glu) n.421-24469G>A | gnomAD v4 |
| 12 | g.6018404C>A | CA383498497 | VWF | c.5014G>T (p.Gly1672Ter) n.421-24470G>T | gnomAD v4 |
| 12 | g.6018404C= | CA2013872499 | VWF | c.5014G= (p.Gly1672=) n.421-24470G= | |
| 12 | g.6018404C>G | CA383498498 | VWF | c.5014G>C (p.Gly1672Arg) n.421-24470G>C | |
| 12 | g.6018404C>T | CA228696 | VWF | c.5014G>A (p.Gly1672Arg) n.421-24470G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018405G>A | CA6402424 | VWF | c.5013C>T (p.Ser1671=) n.421-24471C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.6018405G>C | CA478493962 | VWF | c.5013C>G (p.Ser1671=) n.421-24471C>G | |
| 12 | g.6018405G= | CA2013872500 | VWF | c.5013C= (p.Ser1671=) n.421-24471C= | |
| 12 | g.6018405G>T | CA478493963 | VWF | c.5013C>A (p.Ser1671=) n.421-24471C>A | gnomAD v4 |
| 12 | g.6018406G>A | CA383498499 | VWF | c.5012C>T (p.Ser1671Phe) n.421-24472C>T | |
| 12 | g.6018406G>C | CA383498500 | VWF | c.5012C>G (p.Ser1671Cys) n.421-24472C>G | |
| 12 | g.6018406G>T | CA383498501 | VWF | c.5012C>A (p.Ser1671Tyr) n.421-24472C>A | gnomAD v4 COSMIC |
| 12 | g.6018407A>C | CA383498502 | VWF | c.5011T>G (p.Ser1671Ala) n.421-24473T>G | |
| 12 | g.6018407A>G | CA383498503 | VWF | c.5011T>C (p.Ser1671Pro) n.421-24473T>C | gnomAD v4 |
| 12 | g.6018407A>T | CA383498504 | VWF | c.5011T>A (p.Ser1671Thr) n.421-24473T>A | |
| 12 | g.6018408G>A | CA478493964 | VWF | c.5010C>T (p.Cys1670=) n.421-24474C>T | |
| 12 | g.6018408G>C | CA383498505 | VWF | c.5010C>G (p.Cys1670Trp) n.421-24474C>G | |
| 12 | g.6018408G>T | CA383498506 | VWF | c.5010C>A (p.Cys1670Ter) n.421-24474C>A | |
| 12 | g.6018409C>A | CA383498507 | VWF | c.5009G>T (p.Cys1670Phe) n.421-24475G>T | gnomAD v4 |
| 12 | g.6018409C= | CA2013872501 | VWF | c.5009G= (p.Cys1670=) n.421-24475G= | |
| 12 | g.6018409C>G | CA6402425 | VWF | c.5009G>C (p.Cys1670Ser) n.421-24475G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.6018409C>T | CA383498508 | VWF | c.5009G>A (p.Cys1670Tyr) n.421-24475G>A | gnomAD v4 |
| 12 | g.6018410A>C | CA383498509 | VWF | c.5008T>G (p.Cys1670Gly) n.421-24476T>G | |
| 12 | g.6018410A>G | CA383498510 | VWF | c.5008T>C (p.Cys1670Arg) n.421-24476T>C | gnomAD v4 |
| 12 | g.6018410A>T | CA383498511 | VWF | c.5008T>A (p.Cys1670Ser) n.421-24476T>A |