Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6034714dupCA2617231248VWFc.2662dup (p.Glu888GlyfsTer14)
n.421-40777dup
gnomAD v4
12g.6034712C>ACA478102953VWFc.2661G>T (p.Gly887=)
n.421-40778G>T
12g.6034712C>GCA478102955VWFc.2661G>C (p.Gly887=)
n.421-40778G>C
12g.6034712C>TCA478102954VWFc.2661G>A (p.Gly887=)
n.421-40778G>A
gnomAD v4
12g.6034713C>ACA383520007VWFc.2660G>T (p.Gly887Val)
n.421-40779G>T
12g.6034713C>GCA383520009VWFc.2660G>C (p.Gly887Ala)
n.421-40779G>C
12g.6034713C>TCA383520011VWFc.2660G>A (p.Gly887Glu)
n.421-40779G>A
12g.6034714C>ACA383520013VWFc.2659G>T (p.Gly887Trp)
n.421-40780G>T
gnomAD v4
12g.6034714C=CA2013880103VWFc.2659G= (p.Gly887=)
n.421-40780G=
12g.6034714C>GCA383520016VWFc.2659G>C (p.Gly887Arg)
n.421-40780G>C
gnomAD v4
12g.6034714C>TCA6402995VWFc.2659G>A (p.Gly887Arg)
n.421-40780G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.6034715G>ACA478102957VWFc.2658C>T (p.Pro886=)
n.421-40781C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6034715G>CCA478102958VWFc.2658C>G (p.Pro886=)
n.421-40781C>G
12g.6034715G=CA2013880106VWFc.2658C= (p.Pro886=)
n.421-40781C=
12g.6034715G>TCA478102959VWFc.2658C>A (p.Pro886=)
n.421-40781C>A
12g.6034716G>ACA383520018VWFc.2657C>T (p.Pro886Leu)
n.421-40782C>T
gnomAD v4
12g.6034716G>CCA383520022VWFc.2657C>G (p.Pro886Arg)
n.421-40782C>G
12g.6034716G>TCA383520020VWFc.2657C>A (p.Pro886His)
n.421-40782C>A
12g.6034717G>ACA232299273VWFc.2656C>T (p.Pro886Ser)
n.421-40783C>T
dbSNP COSMIC
12g.6034717G>CCA383520024VWFc.2656C>G (p.Pro886Ala)
n.421-40783C>G
12g.6034717G=CA2013880108VWFc.2656C= (p.Pro886=)
n.421-40783C=
12g.6034717G>TCA383520023VWFc.2656C>A (p.Pro886Thr)
n.421-40783C>A
12g.6034718G>ACA478102961VWFc.2655C>T (p.Phe885=)
n.421-40784C>T
dbSNP
12g.6034718G>CCA383520025VWFc.2655C>G (p.Phe885Leu)
n.421-40784C>G
dbSNP gnomAD v2 gnomAD v4
12g.6034718G=CA2013880111VWFc.2655C= (p.Phe885=)
n.421-40784C=
12g.6034718G>TCA383520026VWFc.2655C>A (p.Phe885Leu)
n.421-40784C>A
12g.6034719A=CA2013880113VWFc.2654T= (p.Phe885=)
n.421-40785T=
12g.6034719A>CCA383520027VWFc.2654T>G (p.Phe885Cys)
n.421-40785T>G
12g.6034719A>GCA232299274VWFc.2654T>C (p.Phe885Ser)
n.421-40785T>C
dbSNP
12g.6034719A>TCA383520029VWFc.2654T>A (p.Phe885Tyr)
n.421-40785T>A
12g.6034720A=CA2013880115VWFc.2653T= (p.Phe885=)
n.421-40786T=
12g.6034720A>CCA383520030VWFc.2653T>G (p.Phe885Val)
n.421-40786T>G
dbSNP gnomAD v3 gnomAD v4
12g.6034720A>GCA6402996VWFc.2653T>C (p.Phe885Leu)
n.421-40786T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6034720A>TCA383520031VWFc.2653T>A (p.Phe885Ile)
n.421-40786T>A
12g.6034721C>ACA478102965VWFc.2652G>T (p.Leu884=)
n.421-40787G>T
12g.6034721C=CA2013880116VWFc.2652G= (p.Leu884=)
n.421-40787G=
12g.6034721C>GCA478102964VWFc.2652G>C (p.Leu884=)
n.421-40787G>C
gnomAD v4
12g.6034721C>TCA6402997VWFc.2652G>A (p.Leu884=)
n.421-40787G>A
dbSNP ExAC gnomAD v2
12g.6034722A=CA2013880117VWFc.2651T= (p.Leu884=)
n.421-40788T=
12g.6034722A>CCA6402998VWFc.2651T>G (p.Leu884Arg)
n.421-40788T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034722A>GCA383520032VWFc.2651T>C (p.Leu884Pro)
n.421-40788T>C
gnomAD v4
12g.6034722A>TCA383520033VWFc.2651T>A (p.Leu884Gln)
n.421-40788T>A
12g.6034723G>ACA478102967VWFc.2650C>T (p.Leu884=)
n.421-40789C>T
12g.6034723G>CCA383520034VWFc.2650C>G (p.Leu884Val)
n.421-40789C>G
12g.6034723G=CA2013880118VWFc.2650C= (p.Leu884=)
n.421-40789C=
12g.6034723G>TCA383520035VWFc.2650C>A (p.Leu884Met)
n.421-40789C>A
COSMIC
12g.6034723_6034724insCAAACA915947877VWFc.2649_2650insTTTG (p.Leu884PhefsTer19)
n.421-40790_421-40789insTTTG
ClinVar dbSNP
12g.6034724G>ACA478102968VWFc.2649C>T (p.Tyr883=)
n.421-40790C>T
12g.6034724G>CCA383520036VWFc.2649C>G (p.Tyr883Ter)
n.421-40790C>G
dbSNP gnomAD v2 gnomAD v4
12g.6034724G=CA2013880119VWFc.2649C= (p.Tyr883=)
n.421-40790C=
12g.6034724G>TCA383520037VWFc.2649C>A (p.Tyr883Ter)
n.421-40790C>A
12g.6034725T>ACA383520038VWFc.2648A>T (p.Tyr883Phe)
n.421-40791A>T
12g.6034725T>CCA383520039VWFc.2648A>G (p.Tyr883Cys)
n.421-40791A>G
12g.6034725T>GCA383520040VWFc.2648A>C (p.Tyr883Ser)
n.421-40791A>C
12g.6034726A>CCA383520041VWFc.2647T>G (p.Tyr883Asp)
n.421-40792T>G
12g.6034726A>GCA383520043VWFc.2647T>C (p.Tyr883His)
n.421-40792T>C
12g.6034726A>TCA383520042VWFc.2647T>A (p.Tyr883Asn)
n.421-40792T>A
12g.6034727T>ACA383520044VWFc.2646A>T (p.Lys882Asn)
n.421-40793A>T
12g.6034727T>CCA478102972VWFc.2646A>G (p.Lys882=)
n.421-40793A>G
gnomAD v4
12g.6034727T>GCA383520045VWFc.2646A>C (p.Lys882Asn)
n.421-40793A>C
12g.6034729dupCA2739271829VWFc.2646dup (p.Tyr883IlefsTer19)
n.421-40793dup
ClinVar
12g.6034728T>ACA383520046VWFc.2645A>T (p.Lys882Ile)
n.421-40794A>T
12g.6034728T>CCA383520047VWFc.2645A>G (p.Lys882Arg)
n.421-40794A>G
12g.6034728T>GCA383520048VWFc.2645A>C (p.Lys882Thr)
n.421-40794A>C
12g.6034729T>ACA383520049VWFc.2644A>T (p.Lys882Ter)
n.421-40795A>T
12g.6034729T>CCA383520050VWFc.2644A>G (p.Lys882Glu)
n.421-40795A>G
gnomAD v4
12g.6034729T>GCA383520051VWFc.2644A>C (p.Lys882Gln)
n.421-40795A>C
12g.6034730G>ACA478102975VWFc.2643C>T (p.Leu881=)
n.421-40796C>T
gnomAD v4
12g.6034730G>CCA478102976VWFc.2643C>G (p.Leu881=)
n.421-40796C>G
dbSNP gnomAD v2
12g.6034730G=CA2013880120VWFc.2643C= (p.Leu881=)
n.421-40796C=
12g.6034730G>TCA478102977VWFc.2643C>A (p.Leu881=)
n.421-40796C>A
12g.6034731A=CA2013880122VWFc.2642T= (p.Leu881=)
n.421-40797T=
12g.6034731A>CCA383520052VWFc.2642T>G (p.Leu881Arg)
n.421-40797T>G
12g.6034731A>GCA6402999VWFc.2642T>C (p.Leu881Pro)
n.421-40797T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6034731A>TCA383520053VWFc.2642T>A (p.Leu881His)
n.421-40797T>A
12g.6034731_6034732delinsAGCA2013880121VWFc.2641_2642delinsCT (p.Leu881=)
n.421-40798_421-40797delinsCT
12g.6034732delCA228359VWFc.2641del (p.Leu881SerfsTer28)
n.421-40798del
ClinVar dbSNP
12g.6034732G>ACA383520054VWFc.2641C>T (p.Leu881Phe)
n.421-40798C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6034732G>CCA6403000VWFc.2641C>G (p.Leu881Val)
n.421-40798C>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6034732G=CA2013880123VWFc.2641C= (p.Leu881=)
n.421-40798C=
12g.6034732G>TCA383520055VWFc.2641C>A (p.Leu881Ile)
n.421-40798C>A
12g.6034733C>ACA478102981VWFc.2640G>T (p.Gly880=)
n.421-40799G>T
12g.6034733C>GCA478102982VWFc.2640G>C (p.Gly880=)
n.421-40799G>C
12g.6034733C>TCA478102984VWFc.2640G>A (p.Gly880=)
n.421-40799G>A
12g.6034734C>ACA383520056VWFc.2639G>T (p.Gly880Val)
n.421-40800G>T
12g.6034734C>GCA383520057VWFc.2639G>C (p.Gly880Ala)
n.421-40800G>C
12g.6034734C>TCA383520058VWFc.2639G>A (p.Gly880Glu)
n.421-40800G>A
12g.6034735C>ACA383520059VWFc.2638G>T (p.Gly880Trp)
n.421-40801G>T
12g.6034735C=CA2013880124VWFc.2638G= (p.Gly880=)
n.421-40801G=
12g.6034735C>GCA383520060VWFc.2638G>C (p.Gly880Arg)
n.421-40801G>C
12g.6034735C>TCA6403001VWFc.2638G>A (p.Gly880Arg)
n.421-40801G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034736G>ACA232299275VWFc.2637C>T (p.Asp879=)
n.421-40802C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6034736G>CCA383520061VWFc.2637C>G (p.Asp879Glu)
n.421-40802C>G
12g.6034736G=CA2013880125VWFc.2637C= (p.Asp879=)
n.421-40802C=
12g.6034736G>TCA383520062VWFc.2637C>A (p.Asp879Glu)
n.421-40802C>A
12g.6034737T>ACA383520063VWFc.2636A>T (p.Asp879Val)
n.421-40803A>T
12g.6034737T>CCA383520064VWFc.2636A>G (p.Asp879Gly)
n.421-40803A>G
gnomAD v4
12g.6034737T>GCA383520065VWFc.2636A>C (p.Asp879Ala)
n.421-40803A>C
12g.6034738C>ACA383520067VWFc.2635G>T (p.Asp879Tyr)
n.421-40804G>T
gnomAD v4
12g.6034738C=CA2013880126VWFc.2635G= (p.Asp879=)
n.421-40804G=
12g.6034738C>GCA383520066VWFc.2635G>C (p.Asp879His)
n.421-40804G>C
12g.6034738C>TCA228357VWFc.2635G>A (p.Asp879Asn)
n.421-40804G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6034739G>ACA6403002VWFc.2634C>T (p.Phe878=)
n.421-40805C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034739G>CCA383520068VWFc.2634C>G (p.Phe878Leu)
n.421-40805C>G
gnomAD v4
12g.6034739G=CA2013880127VWFc.2634C= (p.Phe878=)
n.421-40805C=
12g.6034739G>TCA383520069VWFc.2634C>A (p.Phe878Leu)
n.421-40805C>A
12g.6034740A>CCA383520070VWFc.2633T>G (p.Phe878Cys)
n.421-40806T>G
12g.6034740A>GCA383520071VWFc.2633T>C (p.Phe878Ser)
n.421-40806T>C
12g.6034740A>TCA383520072VWFc.2633T>A (p.Phe878Tyr)
n.421-40806T>A
12g.6034741A=CA2013880128VWFc.2632T= (p.Phe878=)
n.421-40807T=
12g.6034741A>CCA383520073VWFc.2632T>G (p.Phe878Val)
n.421-40807T>G
12g.6034741A>GCA383520074VWFc.2632T>C (p.Phe878Leu)
n.421-40807T>C
12g.6034741A>TCA6403003VWFc.2632T>A (p.Phe878Ile)
n.421-40807T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034742G>ACA6403004VWFc.2631C>T (p.Thr877=)
n.421-40808C>T
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6034742G>CCA478102990VWFc.2631C>G (p.Thr877=)
n.421-40808C>G
dbSNP
12g.6034742G=CA2013880129VWFc.2631C= (p.Thr877=)
n.421-40808C=
12g.6034742G>TCA478102989VWFc.2631C>A (p.Thr877=)
n.421-40808C>A
12g.6034743G>ACA383520077VWFc.2630C>T (p.Thr877Ile)
n.421-40809C>T
gnomAD v4
12g.6034743G>CCA383520076VWFc.2630C>G (p.Thr877Ser)
n.421-40809C>G
12g.6034743G>TCA383520075VWFc.2630C>A (p.Thr877Asn)
n.421-40809C>A
12g.6034744T>ACA383520078VWFc.2629A>T (p.Thr877Ser)
n.421-40810A>T
12g.6034744T>CCA383520080VWFc.2629A>G (p.Thr877Ala)
n.421-40810A>G
12g.6034744T>GCA383520079VWFc.2629A>C (p.Thr877Pro)
n.421-40810A>C
12g.6034745G>ACA478102991VWFc.2628C>T (p.Leu876=)
n.421-40811C>T
gnomAD v4
12g.6034745G>CCA478102992VWFc.2628C>G (p.Leu876=)
n.421-40811C>G
12g.6034745G>TCA478102993VWFc.2628C>A (p.Leu876=)
n.421-40811C>A
gnomAD v4
12g.6034746A=CA2013880130VWFc.2627T= (p.Leu876=)
n.421-40812T=
12g.6034746A>CCA383520081VWFc.2627T>G (p.Leu876Arg)
n.421-40812T>G
12g.6034746A>GCA383520082VWFc.2627T>C (p.Leu876Pro)
n.421-40812T>C
12g.6034746A>TCA383520083VWFc.2627T>A (p.Leu876His)
n.421-40812T>A
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.6034747G>ACA6403005VWFc.2626C>T (p.Leu876Phe)
n.421-40813C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034747G>CCA383520084VWFc.2626C>G (p.Leu876Val)
n.421-40813C>G
dbSNP gnomAD v4
12g.6034747G=CA2013880131VWFc.2626C= (p.Leu876=)
n.421-40813C=
12g.6034747G>TCA383520085VWFc.2626C>A (p.Leu876Ile)
n.421-40813C>A
12g.6034748G>ACA478102994VWFc.2625C>T (p.Tyr875=)
n.421-40814C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.6034748G>CCA383520086VWFc.2625C>G (p.Tyr875Ter)
n.421-40814C>G
12g.6034748G=CA2013880132VWFc.2625C= (p.Tyr875=)
n.421-40814C=
12g.6034748G>TCA383520087VWFc.2625C>A (p.Tyr875Ter)
n.421-40814C>A
12g.6034749T>ACA383520088VWFc.2624A>T (p.Tyr875Phe)
n.421-40815A>T
12g.6034749T>CCA383520089VWFc.2624A>G (p.Tyr875Cys)
n.421-40815A>G
12g.6034749T>GCA383520090VWFc.2624A>C (p.Tyr875Ser)
n.421-40815A>C
12g.6034750A>CCA383520093VWFc.2623T>G (p.Tyr875Asp)
n.421-40816T>G
12g.6034750A>GCA383520092VWFc.2623T>C (p.Tyr875His)
n.421-40816T>C
12g.6034750A>TCA383520091VWFc.2623T>A (p.Tyr875Asn)
n.421-40816T>A
12g.6034751G>ACA478102995VWFc.2622C>T (p.His874=)
n.421-40817C>T
12g.6034751G>CCA383520094VWFc.2622C>G (p.His874Gln)
n.421-40817C>G
12g.6034751G>TCA383520095VWFc.2622C>A (p.His874Gln)
n.421-40817C>A
gnomAD v4
12g.6034752T>ACA383520096VWFc.2621A>T (p.His874Leu)
n.421-40818A>T
12g.6034752T>CCA383520097VWFc.2621A>G (p.His874Arg)
n.421-40818A>G
dbSNP gnomAD v2 gnomAD v4
12g.6034752T>GCA383520098VWFc.2621A>C (p.His874Pro)
n.421-40818A>C
12g.6034752T=CA2013880133VWFc.2621A= (p.His874=)
n.421-40818A=
12g.6034753G>ACA383520099VWFc.2620C>T (p.His874Tyr)
n.421-40819C>T
dbSNP gnomAD v2 gnomAD v4
12g.6034753G>CCA383520100VWFc.2620C>G (p.His874Asp)
n.421-40819C>G
12g.6034753G=CA2013880134VWFc.2620C= (p.His874=)
n.421-40819C=
12g.6034753G>TCA383520101VWFc.2620C>A (p.His874Asn)
n.421-40819C>A
12g.6034754G>ACA478102996VWFc.2619C>T (p.Ala873=)
n.421-40820C>T
12g.6034754G>CCA478102998VWFc.2619C>G (p.Ala873=)
n.421-40820C>G
12g.6034754G>TCA478102997VWFc.2619C>A (p.Ala873=)
n.421-40820C>A
12g.6034755G>ACA383520102VWFc.2618C>T (p.Ala873Val)
n.421-40821C>T
ClinVar dbSNP
12g.6034755G>CCA383520103VWFc.2618C>G (p.Ala873Gly)
n.421-40821C>G
12g.6034755G=CA2013880135VWFc.2618C= (p.Ala873=)
n.421-40821C=
12g.6034755G>TCA383520104VWFc.2618C>A (p.Ala873Asp)
n.421-40821C>A
12g.6034756C>ACA383520107VWFc.2617G>T (p.Ala873Ser)
n.421-40822G>T
12g.6034756C>GCA383520106VWFc.2617G>C (p.Ala873Pro)
n.421-40822G>C
12g.6034756C>TCA383520105VWFc.2617G>A (p.Ala873Thr)
n.421-40822G>A
gnomAD v4
12g.6034757C>ACA383520108VWFc.2616G>T (p.Met872Ile)
n.421-40823G>T
12g.6034757C=CA2013880136VWFc.2616G= (p.Met872=)
n.421-40823G=
12g.6034757C>GCA383520109VWFc.2616G>C (p.Met872Ile)
n.421-40823G>C
12g.6034757C>TCA6403006VWFc.2616G>A (p.Met872Ile)
n.421-40823G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034758A=CA2013880137VWFc.2615T= (p.Met872=)
n.421-40824T=
12g.6034758A>CCA383520110VWFc.2615T>G (p.Met872Arg)
n.421-40824T>G
12g.6034758A>GCA383520111VWFc.2615T>C (p.Met872Thr)
n.421-40824T>C
dbSNP
12g.6034758A>TCA383520112VWFc.2615T>A (p.Met872Lys)
n.421-40824T>A
12g.6034759T>ACA383520113VWFc.2614A>T (p.Met872Leu)
n.421-40825A>T
12g.6034759T>CCA383520114VWFc.2614A>G (p.Met872Val)
n.421-40825A>G
12g.6034759T>GCA383520115VWFc.2614A>C (p.Met872Leu)
n.421-40825A>C
12g.6034760G>ACA478102999VWFc.2613C>T (p.Gly871=)
n.421-40826C>T
12g.6034760G>CCA478103000VWFc.2613C>G (p.Gly871=)
n.421-40826C>G
12g.6034760G>TCA478103001VWFc.2613C>A (p.Gly871=)
n.421-40826C>A
12g.6034761C>ACA383520116VWFc.2612G>T (p.Gly871Val)
n.421-40827G>T
12g.6034761C>GCA383520117VWFc.2612G>C (p.Gly871Ala)
n.421-40827G>C
12g.6034761C>TCA383520118VWFc.2612G>A (p.Gly871Asp)
n.421-40827G>A
12g.6034762C>ACA383520120VWFc.2611G>T (p.Gly871Cys)
n.421-40828G>T
12g.6034762C=CA2013880138VWFc.2611G= (p.Gly871=)
n.421-40828G=
12g.6034762C>GCA383520119VWFc.2611G>C (p.Gly871Arg)
n.421-40828G>C
12g.6034762C>TCA6403007VWFc.2611G>A (p.Gly871Ser)
n.421-40828G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034763G>ACA6403008VWFc.2610C>T (p.Ile870=)
n.421-40829C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.6034763G>CCA383520121VWFc.2610C>G (p.Ile870Met)
n.421-40829C>G
12g.6034763G=CA2013880139VWFc.2610C= (p.Ile870=)
n.421-40829C=
12g.6034763G>TCA478103002VWFc.2610C>A (p.Ile870=)
n.421-40829C>A
12g.6034764A>CCA383520122VWFc.2609T>G (p.Ile870Ser)
n.421-40830T>G
12g.6034764A>GCA383520123VWFc.2609T>C (p.Ile870Thr)
n.421-40830T>C
12g.6034764A>TCA383520124VWFc.2609T>A (p.Ile870Asn)
n.421-40830T>A
12g.6034765T>ACA383520125VWFc.2608A>T (p.Ile870Phe)
n.421-40831A>T
12g.6034765T>CCA383520126VWFc.2608A>G (p.Ile870Val)
n.421-40831A>G
gnomAD v4
12g.6034765T>GCA383520127VWFc.2608A>C (p.Ile870Leu)
n.421-40831A>C
12g.6034765_6034766delCA2794398166VWFc.2607_2608del (p.Ile870ArgfsTer?)
n.421-40832_421-40831del
12g.6034766C>ACA478103003VWFc.2607G>T (p.Thr869=)
n.421-40832G>T
12g.6034766C=CA2013880140VWFc.2607G= (p.Thr869=)
n.421-40832G=
12g.6034766C>GCA478103004VWFc.2607G>C (p.Thr869=)
n.421-40832G>C
dbSNP COSMIC
12g.6034766C>TCA6403009VWFc.2607G>A (p.Thr869=)
n.421-40832G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6034767G>ACA383520128VWFc.2606C>T (p.Thr869Met)
n.421-40833C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6034767G>CCA383520129VWFc.2606C>G (p.Thr869Arg)
n.421-40833C>G
12g.6034767G=CA2013880141VWFc.2606C= (p.Thr869=)
n.421-40833C=
12g.6034767G>TCA383520130VWFc.2606C>A (p.Thr869Lys)
n.421-40833C>A
12g.6034768T>ACA383520132VWFc.2605A>T (p.Thr869Ser)
n.421-40834A>T
12g.6034768T>CCA6403010VWFc.2605A>G (p.Thr869Ala)
n.421-40834A>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6034768T>GCA383520131VWFc.2605A>C (p.Thr869Pro)
n.421-40834A>C
12g.6034768T=CA2013880142VWFc.2605A= (p.Thr869=)
n.421-40834A=
12g.6034769G>ACA478103005VWFc.2604C>T (p.Ser868=)
n.421-40835C>T
12g.6034769G>CCA478103007VWFc.2604C>G (p.Ser868=)
n.421-40835C>G
12g.6034769G>TCA478103006VWFc.2604C>A (p.Ser868=)
n.421-40835C>A
12g.6034769_6034770insCACA2794398167VWFc.2603_2604insTG (p.Thr869AlafsTer?)
n.421-40836_421-40835insTG
12g.6034770G>ACA6403011VWFc.2603C>T (p.Ser868Phe)
n.421-40836C>T
dbSNP ExAC gnomAD v2
12g.6034770G>CCA232299276VWFc.2603C>G (p.Ser868Cys)
n.421-40836C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6034770G=CA2013880143VWFc.2603C= (p.Ser868=)
n.421-40836C=
12g.6034770G>TCA383520133VWFc.2603C>A (p.Ser868Tyr)
n.421-40836C>A
12g.6034771A>CCA383520134VWFc.2602T>G (p.Ser868Ala)
n.421-40837T>G
12g.6034771A>GCA383520135VWFc.2602T>C (p.Ser868Pro)
n.421-40837T>C
12g.6034771A>TCA383520136VWFc.2602T>A (p.Ser868Thr)
n.421-40837T>A
12g.6034772G>ACA478103008VWFc.2601C>T (p.Cys867=)
n.421-40838C>T
12g.6034772G>CCA383520137VWFc.2601C>G (p.Cys867Trp)
n.421-40838C>G
12g.6034772G>TCA383520138VWFc.2601C>A (p.Cys867Ter)
n.421-40838C>A
12g.6034773C>ACA383520139VWFc.2600G>T (p.Cys867Phe)
n.421-40839G>T
12g.6034773C>GCA383520140VWFc.2600G>C (p.Cys867Ser)
n.421-40839G>C
12g.6034773C>TCA383520141VWFc.2600G>A (p.Cys867Tyr)
n.421-40839G>A
12g.6034774A>CCA383520142VWFc.2599T>G (p.Cys867Gly)
n.421-40840T>G
12g.6034774A>GCA383520143VWFc.2599T>C (p.Cys867Arg)
n.421-40840T>C
12g.6034774A>TCA383520144VWFc.2599T>A (p.Cys867Ser)
n.421-40840T>A
12g.6034775C>ACA478103009VWFc.2598G>T (p.Thr866=)
n.421-40841G>T
dbSNP gnomAD v4
12g.6034775C=CA2013880144VWFc.2598G= (p.Thr866=)
n.421-40841G=
12g.6034775C>GCA478103010VWFc.2598G>C (p.Thr866=)
n.421-40841G>C
gnomAD v4
12g.6034775C>TCA6403012VWFc.2598G>A (p.Thr866=)
n.421-40841G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.6034776G>ACA383520145VWFc.2597C>T (p.Thr866Met)
n.421-40842C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6034776G>CCA383520147VWFc.2597C>G (p.Thr866Arg)
n.421-40842C>G
12g.6034776G=CA2013880145VWFc.2597C= (p.Thr866=)
n.421-40842C=
12g.6034776G>TCA383520146VWFc.2597C>A (p.Thr866Lys)
n.421-40842C>A
12g.6034777T>ACA383520148VWFc.2596A>T (p.Thr866Ser)
n.421-40843A>T
12g.6034777T>CCA383520149VWFc.2596A>G (p.Thr866Ala)
n.421-40843A>G
dbSNP gnomAD v4
12g.6034777T>GCA383520150VWFc.2596A>C (p.Thr866Pro)
n.421-40843A>C
12g.6034777T=CA2013880146VWFc.2596A= (p.Thr866=)
n.421-40843A=
12g.6034778G>ACA6403013VWFc.2595C>T (p.Ala865=)
n.421-40844C>T
dbSNP ExAC gnomAD v4 COSMIC
12g.6034778G>CCA478103011VWFc.2595C>G (p.Ala865=)
n.421-40844C>G
12g.6034778G=CA2013880147VWFc.2595C= (p.Ala865=)
n.421-40844C=
12g.6034778G>TCA478103012VWFc.2595C>A (p.Ala865=)
n.421-40844C>A
12g.6034779G>ACA383520151VWFc.2594C>T (p.Ala865Val)
n.421-40845C>T
gnomAD v4
12g.6034779G>CCA383520152VWFc.2594C>G (p.Ala865Gly)
n.421-40845C>G
gnomAD v4
12g.6034779G>TCA383520153VWFc.2594C>A (p.Ala865Asp)
n.421-40845C>A
12g.6034780C>ACA383520154VWFc.2593G>T (p.Ala865Ser)
n.421-40846G>T
12g.6034780C>GCA383520155VWFc.2593G>C (p.Ala865Pro)
n.421-40846G>C
12g.6034780C>TCA383520156VWFc.2593G>A (p.Ala865Thr)
n.421-40846G>A
12g.6034781A=CA2013880148VWFc.2592T= (p.Asp864=)
n.421-40847T=
12g.6034781A>CCA383520158VWFc.2592T>G (p.Asp864Glu)
n.421-40847T>G
dbSNP gnomAD v2 gnomAD v4
12g.6034781A>GCA6403014VWFc.2592T>C (p.Asp864=)
n.421-40847T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034781A>TCA383520157VWFc.2592T>A (p.Asp864Glu)
n.421-40847T>A
12g.6034782T>ACA383520159VWFc.2591A>T (p.Asp864Val)
n.421-40848A>T
12g.6034782T>CCA6403015VWFc.2591A>G (p.Asp864Gly)
n.421-40848A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034782T>GCA383520160VWFc.2591A>C (p.Asp864Ala)
n.421-40848A>C
12g.6034782T=CA2013880149VWFc.2591A= (p.Asp864=)
n.421-40848A=
12g.6034783C>ACA383520161VWFc.2590G>T (p.Asp864Tyr)
n.421-40849G>T
12g.6034783C>GCA383520162VWFc.2590G>C (p.Asp864His)
n.421-40849G>C
12g.6034783C>TCA383520163VWFc.2590G>A (p.Asp864Asn)
n.421-40849G>A
12g.6034784A>CCA383520164VWFc.2589T>G (p.Cys863Trp)
n.421-40850T>G
12g.6034784A>GCA478103013VWFc.2589T>C (p.Cys863=)
n.421-40850T>C
gnomAD v4
12g.6034784A>TCA383520165VWFc.2589T>A (p.Cys863Ter)
n.421-40850T>A
12g.6034785C>ACA383520166VWFc.2588G>T (p.Cys863Phe)
n.421-40851G>T
dbSNP gnomAD v2 gnomAD v4
12g.6034785C=CA2013880150VWFc.2588G= (p.Cys863=)
n.421-40851G=
12g.6034785C>GCA383520167VWFc.2588G>C (p.Cys863Ser)
n.421-40851G>C
12g.6034785C>TCA383520168VWFc.2588G>A (p.Cys863Tyr)
n.421-40851G>A
12g.6034786A>CCA383520170VWFc.2587T>G (p.Cys863Gly)
n.421-40852T>G
12g.6034786A>GCA383520171VWFc.2587T>C (p.Cys863Arg)
n.421-40852T>C
gnomAD v4
12g.6034786A>TCA383520169VWFc.2587T>A (p.Cys863Ser)
n.421-40852T>A
12g.6034787C>ACA6403016VWFc.2586G>T (p.Val862=)
n.421-40853G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034787C=CA2013880151VWFc.2586G= (p.Val862=)
n.421-40853G=
12g.6034787C>GCA478103014VWFc.2586G>C (p.Val862=)
n.421-40853G>C
gnomAD v4
12g.6034787C>TCA6403017VWFc.2586G>A (p.Val862=)
n.421-40853G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6034788A>CCA383520172VWFc.2585T>G (p.Val862Gly)
n.421-40854T>G
12g.6034788A>GCA383520173VWFc.2585T>C (p.Val862Ala)
n.421-40854T>C
12g.6034788A>TCA383520174VWFc.2585T>A (p.Val862Glu)
n.421-40854T>A
12g.6034789C>ACA383520177VWFc.2584G>T (p.Val862Leu)
n.421-40855G>T
12g.6034789C=CA2013880152VWFc.2584G= (p.Val862=)
n.421-40855G=
12g.6034789C>GCA383520175VWFc.2584G>C (p.Val862Leu)
n.421-40855G>C
12g.6034789C>TCA383520176VWFc.2584G>A (p.Val862Met)
n.421-40855G>A
dbSNP gnomAD v3 gnomAD v4
12g.6034791_6034801delCA2695215957VWFc.2574_2584del (p.Thr859ValfsTer2)
n.421-40865_421-40855del
12g.6034790A=CA2013880154VWFc.2583T= (p.His861=)
n.421-40856T=
12g.6034790A>CCA383520178VWFc.2583T>G (p.His861Gln)
n.421-40856T>G
12g.6034790A>GCA6403018VWFc.2583T>C (p.His861=)
n.421-40856T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6034790A>TCA383520179VWFc.2583T>A (p.His861Gln)
n.421-40856T>A
12g.6034790_6034791delCA2617231249VWFc.2582_2583del (p.His861ArgfsTer3)
n.421-40857_421-40856del
gnomAD v4
12g.6034790_6034791delinsATCA2013880153VWFc.2582_2583delinsAT (p.His861=)
n.421-40857_421-40856delinsAT
12g.6034791delCA603102393VWFc.2582del (p.His861LeufsTer?)
n.421-40857del
dbSNP gnomAD v2
12g.6034791T>ACA383520180VWFc.2582A>T (p.His861Leu)
n.421-40857A>T
12g.6034791T>CCA232299277VWFc.2582A>G (p.His861Arg)
n.421-40857A>G
dbSNP gnomAD v4
12g.6034791T>GCA383520181VWFc.2582A>C (p.His861Pro)
n.421-40857A>C
12g.6034791T=CA2013880155VWFc.2582A= (p.His861=)
n.421-40857A=
12g.6034792G>ACA383520183VWFc.2581C>T (p.His861Tyr)
n.421-40858C>T
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.6034792G>CCA383520184VWFc.2581C>G (p.His861Asp)
n.421-40858C>G
12g.6034792G=CA2013880156VWFc.2581C= (p.His861=)
n.421-40858C=
12g.6034792G>TCA383520182VWFc.2581C>A (p.His861Asn)
n.421-40858C>A
12g.6034793G>ACA478103015VWFc.2580C>T (p.Asp860=)
n.421-40859C>T
12g.6034793G>CCA383520185VWFc.2580C>G (p.Asp860Glu)
n.421-40859C>G
12g.6034793G>TCA383520186VWFc.2580C>A (p.Asp860Glu)
n.421-40859C>A
12g.6034794T>ACA383520187VWFc.2579A>T (p.Asp860Val)
n.421-40860A>T
12g.6034794T>CCA383520188VWFc.2579A>G (p.Asp860Gly)
n.421-40860A>G
gnomAD v4
12g.6034794T>GCA383520189VWFc.2579A>C (p.Asp860Ala)
n.421-40860A>C
gnomAD v4
12g.6034795C>ACA383520190VWFc.2578G>T (p.Asp860Tyr)
n.421-40861G>T
12g.6034795C>GCA383520191VWFc.2578G>C (p.Asp860His)
n.421-40861G>C
12g.6034795C>TCA383520192VWFc.2578G>A (p.Asp860Asn)
n.421-40861G>A
12g.6034796T>ACA478103016VWFc.2577A>T (p.Thr859=)
n.421-40862A>T
12g.6034796T>CCA478103017VWFc.2577A>G (p.Thr859=)
n.421-40862A>G
12g.6034796T>GCA478103018VWFc.2577A>C (p.Thr859=)
n.421-40862A>C
12g.6034797G>ACA383520193VWFc.2576C>T (p.Thr859Ile)
n.421-40863C>T
12g.6034797G>CCA383520194VWFc.2576C>G (p.Thr859Arg)
n.421-40863C>G
12g.6034797G>TCA383520195VWFc.2576C>A (p.Thr859Lys)
n.421-40863C>A
12g.6034798T>ACA383520196VWFc.2575A>T (p.Thr859Ser)
n.421-40864A>T
12g.6034798T>CCA6403019VWFc.2575A>G (p.Thr859Ala)
n.421-40864A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034798T>GCA383520197VWFc.2575A>C (p.Thr859Pro)
n.421-40864A>C
12g.6034798T=CA2013880157VWFc.2575A= (p.Thr859=)
n.421-40864A=
12g.6034799G>ACA478103019VWFc.2574C>T (p.Cys858=)
n.421-40865C>T
dbSNP gnomAD v2 gnomAD v4
12g.6034799G>CCA232299278VWFc.2574C>G (p.Cys858Trp)
n.421-40865C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6034799G=CA2013880158VWFc.2574C= (p.Cys858=)
n.421-40865C=
12g.6034799G>TCA383520198VWFc.2574C>A (p.Cys858Ter)
n.421-40865C>A
12g.6034800C>ACA228353VWFc.2573G>T (p.Cys858Phe)
n.421-40866G>T
ClinVar dbSNP
12g.6034800C=CA2013880159VWFc.2573G= (p.Cys858=)
n.421-40866G=
12g.6034800C>GCA383520199VWFc.2573G>C (p.Cys858Ser)
n.421-40866G>C
12g.6034800C>TCA383520200VWFc.2573G>A (p.Cys858Tyr)
n.421-40866G>A
12g.6034801A=CA2013880160VWFc.2572T= (p.Cys858=)
n.421-40867T=
12g.6034801A>CCA383520201VWFc.2572T>G (p.Cys858Gly)
n.421-40867T>G
12g.6034801A>GCA383520202VWFc.2572T>C (p.Cys858Arg)
n.421-40867T>C
12g.6034801A>TCA383520203VWFc.2572T>A (p.Cys858Ser)
n.421-40867T>A
dbSNP gnomAD v3 gnomAD v4
12g.6034802G>ACA478103020VWFc.2571C>T (p.Asn857=)
n.421-40868C>T
12g.6034802G>CCA383520205VWFc.2571C>G (p.Asn857Lys)
n.421-40868C>G
12g.6034802G>TCA383520204VWFc.2571C>A (p.Asn857Lys)
n.421-40868C>A
12g.6034803T>ACA383520206VWFc.2570A>T (p.Asn857Ile)
n.421-40869A>T
12g.6034803T>CCA6403020VWFc.2570A>G (p.Asn857Ser)
n.421-40869A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6034803T>GCA383520207VWFc.2570A>C (p.Asn857Thr)
n.421-40869A>C
12g.6034803T=CA2013880161VWFc.2570A= (p.Asn857=)
n.421-40869A=
12g.6034804T>ACA383520208VWFc.2569A>T (p.Asn857Tyr)
n.421-40870A>T
12g.6034804T>CCA383520209VWFc.2569A>G (p.Asn857Asp)
n.421-40870A>G
12g.6034804T>GCA383520210VWFc.2569A>C (p.Asn857His)
n.421-40870A>C
12g.6034805C>ACA383520211VWFc.2568G>T (p.Trp856Cys)
n.421-40871G>T
gnomAD v4
12g.6034805C=CA2013880162VWFc.2568G= (p.Trp856=)
n.421-40871G=
12g.6034805C>GCA6403021VWFc.2568G>C (p.Trp856Cys)
n.421-40871G>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6034805C>TCA383520212VWFc.2568G>A (p.Trp856Ter)
n.421-40871G>A
12g.6034806C>ACA383520213VWFc.2567G>T (p.Trp856Leu)
n.421-40872G>T
12g.6034806C>GCA383520214VWFc.2567G>C (p.Trp856Ser)
n.421-40872G>C
12g.6034806C>TCA383520215VWFc.2567G>A (p.Trp856Ter)
n.421-40872G>A
12g.6034807A>CCA383520216VWFc.2566T>G (p.Trp856Gly)
n.421-40873T>G
12g.6034807A>GCA383520217VWFc.2566T>C (p.Trp856Arg)
n.421-40873T>C
12g.6034807A>TCA383520218VWFc.2566T>A (p.Trp856Arg)
n.421-40873T>A
12g.6034808C>ACA383520220VWFc.2565G>T (p.Lys855Asn)
n.421-40874G>T
gnomAD v4
12g.6034808C>GCA383520219VWFc.2565G>C (p.Lys855Asn)
n.421-40874G>C
12g.6034808C>TCA478103021VWFc.2565G>A (p.Lys855=)
n.421-40874G>A
dbSNP
12g.6034809T>ACA383520221VWFc.2564A>T (p.Lys855Met)
n.421-40875A>T
12g.6034809T>CCA383520222VWFc.2564A>G (p.Lys855Arg)
n.421-40875A>G
12g.6034809T>GCA383520223VWFc.2564A>C (p.Lys855Thr)
n.421-40875A>C
12g.6034810T>ACA383520224VWFc.2563A>T (p.Lys855Ter)
n.421-40876A>T
12g.6034810T>CCA383520225VWFc.2563A>G (p.Lys855Glu)
n.421-40876A>G
12g.6034810T>GCA383520226VWFc.2563A>C (p.Lys855Gln)
n.421-40876A>C
12g.6034811C>ACA478103022VWFc.2562G>T (p.Arg854=)
n.421-40877G>T
dbSNP gnomAD v2
12g.6034811C=CA2013880163VWFc.2562G= (p.Arg854=)
n.421-40877G=
12g.6034811C>GCA478103023VWFc.2562G>C (p.Arg854=)
n.421-40877G>C
12g.6034811C>TCA478103024VWFc.2562G>A (p.Arg854=)
n.421-40877G>A
12g.6034812C>ACA383520227VWFc.2561G>T (p.Arg854Leu)
n.421-40878G>T
12g.6034812C=CA2013880164VWFc.2561G= (p.Arg854=)
n.421-40878G=
12g.6034812C>GCA383520228VWFc.2561G>C (p.Arg854Pro)
n.421-40878G>C
12g.6034812C>TCA114139VWFc.2561G>A (p.Arg854Gln)
n.421-40878G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched