Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6023660A>CCA383511954VWFc.3350T>G (p.Val1117Gly)
n.421-29726T>G
12g.6023660A>GCA383511956VWFc.3350T>C (p.Val1117Ala)
n.421-29726T>C
12g.6023660A>TCA383511962VWFc.3350T>A (p.Val1117Glu)
n.421-29726T>A
12g.6023661C>ACA383511970VWFc.3349G>T (p.Val1117Leu)
n.421-29727G>T
gnomAD v4
12g.6023661C>GCA383511972VWFc.3349G>C (p.Val1117Leu)
n.421-29727G>C
12g.6023661C>TCA383511967VWFc.3349G>A (p.Val1117Met)
n.421-29727G>A
12g.6023662C>ACA383511976VWFc.3348G>T (p.Lys1116Asn)
n.421-29728G>T
12g.6023662C=CA2013874870VWFc.3348G= (p.Lys1116=)
n.421-29728G=
12g.6023662C>GCA383511979VWFc.3348G>C (p.Lys1116Asn)
n.421-29728G>C
12g.6023662C>TCA6402773VWFc.3348G>A (p.Lys1116=)
n.421-29728G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023663T>ACA383511988VWFc.3347A>T (p.Lys1116Met)
n.421-29729A>T
12g.6023663T>CCA383511991VWFc.3347A>G (p.Lys1116Arg)
n.421-29729A>G
12g.6023663T>GCA383511994VWFc.3347A>C (p.Lys1116Thr)
n.421-29729A>C
12g.6023664T>ACA383511998VWFc.3346A>T (p.Lys1116Ter)
n.421-29730A>T
12g.6023664T>CCA383512000VWFc.3346A>G (p.Lys1116Glu)
n.421-29730A>G
gnomAD v4
12g.6023664T>GCA383512002VWFc.3346A>C (p.Lys1116Gln)
n.421-29730A>C
12g.6023665_6023666insGTGCA2695216051VWFc.3346_3347insCCA (p.Gly1115_Lys1116insThr)
n.421-29730_421-29729insCCA
12g.6023665G>ACA478101535VWFc.3345C>T (p.Gly1115=)
n.421-29731C>T
12g.6023665G>CCA478101534VWFc.3345C>G (p.Gly1115=)
n.421-29731C>G
gnomAD v4
12g.6023665G=CA2013874871VWFc.3345C= (p.Gly1115=)
n.421-29731C=
12g.6023665G>TCA478101533VWFc.3345C>A (p.Gly1115=)
n.421-29731C>A
dbSNP gnomAD v2 gnomAD v4
12g.6023666C>ACA383512004VWFc.3344G>T (p.Gly1115Val)
n.421-29732G>T
12g.6023666C>GCA383512008VWFc.3344G>C (p.Gly1115Ala)
n.421-29732G>C
12g.6023666C>TCA383512011VWFc.3344G>A (p.Gly1115Asp)
n.421-29732G>A
12g.6023667C>ACA383512019VWFc.3343G>T (p.Gly1115Cys)
n.421-29733G>T
12g.6023667C>GCA383512021VWFc.3343G>C (p.Gly1115Arg)
n.421-29733G>C
gnomAD v4
12g.6023667C>TCA383512015VWFc.3343G>A (p.Gly1115Ser)
n.421-29733G>A
gnomAD v4
12g.6023668A>CCA383512024VWFc.3342T>G (p.His1114Gln)
n.421-29734T>G
gnomAD v4
12g.6023668A>GCA478101538VWFc.3342T>C (p.His1114=)
n.421-29734T>C
gnomAD v4
12g.6023668A>TCA383512026VWFc.3342T>A (p.His1114Gln)
n.421-29734T>A
12g.6023669T>ACA383512030VWFc.3341A>T (p.His1114Leu)
n.421-29735A>T
12g.6023669T>CCA383512046VWFc.3341A>G (p.His1114Arg)
n.421-29735A>G
12g.6023669T>GCA383512049VWFc.3341A>C (p.His1114Pro)
n.421-29735A>C
12g.6023670G>ACA383512060VWFc.3340C>T (p.His1114Tyr)
n.421-29736C>T
12g.6023670G>CCA383512054VWFc.3340C>G (p.His1114Asp)
n.421-29736C>G
dbSNP gnomAD v3 gnomAD v4
12g.6023670G=CA2013874872VWFc.3340C= (p.His1114=)
n.421-29736C=
12g.6023670G>TCA383512057VWFc.3340C>A (p.His1114Asn)
n.421-29736C>A
dbSNP
12g.6023671C>ACA383512062VWFc.3339G>T (p.Gln1113His)
n.421-29737G>T
12g.6023671C=CA2013874873VWFc.3339G= (p.Gln1113=)
n.421-29737G=
12g.6023671C>GCA232298111VWFc.3339G>C (p.Gln1113His)
n.421-29737G>C
dbSNP gnomAD v3 gnomAD v4
12g.6023671C>TCA478101545VWFc.3339G>A (p.Gln1113=)
n.421-29737G>A
dbSNP gnomAD v4
12g.6023672T>ACA383512070VWFc.3338A>T (p.Gln1113Leu)
n.421-29738A>T
COSMIC
12g.6023672T>CCA383512073VWFc.3338A>G (p.Gln1113Arg)
n.421-29738A>G
12g.6023672T>GCA383512076VWFc.3338A>C (p.Gln1113Pro)
n.421-29738A>C
12g.6023673G>ACA383512086VWFc.3337C>T (p.Gln1113Ter)
n.421-29739C>T
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.6023673G>CCA383512083VWFc.3337C>G (p.Gln1113Glu)
n.421-29739C>G
12g.6023673G=CA2013874874VWFc.3337C= (p.Gln1113=)
n.421-29739C=
12g.6023673G>TCA383512079VWFc.3337C>A (p.Gln1113Lys)
n.421-29739C>A
12g.6023674G>ACA478101550VWFc.3336C>T (p.Ala1112=)
n.421-29740C>T
12g.6023674G>CCA478101551VWFc.3336C>G (p.Ala1112=)
n.421-29740C>G
12g.6023674G>TCA478101552VWFc.3336C>A (p.Ala1112=)
n.421-29740C>A
gnomAD v4 COSMIC
12g.6023675G>ACA383512091VWFc.3335C>T (p.Ala1112Val)
n.421-29741C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6023675G>CCA383512095VWFc.3335C>G (p.Ala1112Gly)
n.421-29741C>G
gnomAD v4
12g.6023675G=CA2013874875VWFc.3335C= (p.Ala1112=)
n.421-29741C=
12g.6023675G>TCA383512094VWFc.3335C>A (p.Ala1112Asp)
n.421-29741C>A
12g.6023676C>ACA383512098VWFc.3334G>T (p.Ala1112Ser)
n.421-29742G>T
12g.6023676C>GCA383512104VWFc.3334G>C (p.Ala1112Pro)
n.421-29742G>C
12g.6023676C>TCA383512101VWFc.3334G>A (p.Ala1112Thr)
n.421-29742G>A
12g.6023677A>CCA383512107VWFc.3333T>G (p.Cys1111Trp)
n.421-29743T>G
12g.6023677A>GCA478101557VWFc.3333T>C (p.Cys1111=)
n.421-29743T>C
12g.6023677A>TCA383512109VWFc.3333T>A (p.Cys1111Ter)
n.421-29743T>A
12g.6023678C>ACA383512112VWFc.3332G>T (p.Cys1111Phe)
n.421-29744G>T
12g.6023678C=CA2013874876VWFc.3332G= (p.Cys1111=)
n.421-29744G=
12g.6023678C>GCA383512114VWFc.3332G>C (p.Cys1111Ser)
n.421-29744G>C
12g.6023678C>TCA228394VWFc.3332G>A (p.Cys1111Tyr)
n.421-29744G>A
ClinVar dbSNP gnomAD v4
12g.6023679A>CCA383512118VWFc.3331T>G (p.Cys1111Gly)
n.421-29745T>G
12g.6023679A>GCA383512119VWFc.3331T>C (p.Cys1111Arg)
n.421-29745T>C
12g.6023679A>TCA383512122VWFc.3331T>A (p.Cys1111Ser)
n.421-29745T>A
12g.6023680C>ACA6402774VWFc.3330G>T (p.Val1110=)
n.421-29746G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023680C=CA2013874877VWFc.3330G= (p.Val1110=)
n.421-29746G=
12g.6023680C>GCA478101561VWFc.3330G>C (p.Val1110=)
n.421-29746G>C
12g.6023680C>TCA478101562VWFc.3330G>A (p.Val1110=)
n.421-29746G>A
dbSNP gnomAD v4
12g.6023681A=CA2013874878VWFc.3329T= (p.Val1110=)
n.421-29747T=
12g.6023681A>CCA383512124VWFc.3329T>G (p.Val1110Gly)
n.421-29747T>G
12g.6023681A>GCA383512125VWFc.3329T>C (p.Val1110Ala)
n.421-29747T>C
12g.6023681A>TCA6402775VWFc.3329T>A (p.Val1110Glu)
n.421-29747T>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6023682C>ACA383512126VWFc.3328G>T (p.Val1110Leu)
n.421-29748G>T
gnomAD v4
12g.6023682C=CA2013874879VWFc.3328G= (p.Val1110=)
n.421-29748G=
12g.6023682C>GCA383512127VWFc.3328G>C (p.Val1110Leu)
n.421-29748G>C
12g.6023682C>TCA6402776VWFc.3328G>A (p.Val1110Met)
n.421-29748G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023683G>ACA6402777VWFc.3327C>T (p.His1109=)
n.421-29749C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023683G>CCA383512128VWFc.3327C>G (p.His1109Gln)
n.421-29749C>G
12g.6023683G=CA2013874880VWFc.3327C= (p.His1109=)
n.421-29749C=
12g.6023683G>TCA383512129VWFc.3327C>A (p.His1109Gln)
n.421-29749C>A
12g.6023684T>ACA383512130VWFc.3326A>T (p.His1109Leu)
n.421-29750A>T
12g.6023684T>CCA6402778VWFc.3326A>G (p.His1109Arg)
n.421-29750A>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6023684T>GCA383512131VWFc.3326A>C (p.His1109Pro)
n.421-29750A>C
12g.6023684T=CA2013874881VWFc.3326A= (p.His1109=)
n.421-29750A=
12g.6023685G>ACA383512132VWFc.3325C>T (p.His1109Tyr)
n.421-29751C>T
12g.6023685G>CCA383512133VWFc.3325C>G (p.His1109Asp)
n.421-29751C>G
12g.6023685G>TCA383512134VWFc.3325C>A (p.His1109Asn)
n.421-29751C>A
12g.6023686G>ACA478101571VWFc.3324C>T (p.Ala1108=)
n.421-29752C>T
dbSNP gnomAD v4
12g.6023686G>CCA478101576VWFc.3324C>G (p.Ala1108=)
n.421-29752C>G
12g.6023686G=CA2013874882VWFc.3324C= (p.Ala1108=)
n.421-29752C=
12g.6023686G>TCA478101575VWFc.3324C>A (p.Ala1108=)
n.421-29752C>A
gnomAD v4
12g.6023687G>ACA232298112VWFc.3323C>T (p.Ala1108Val)
n.421-29753C>T
dbSNP gnomAD v3 gnomAD v4
12g.6023687G>CCA383512136VWFc.3323C>G (p.Ala1108Gly)
n.421-29753C>G
12g.6023687G=CA2013874883VWFc.3323C= (p.Ala1108=)
n.421-29753C=
12g.6023687G>TCA383512135VWFc.3323C>A (p.Ala1108Asp)
n.421-29753C>A
12g.6023688C>ACA383512137VWFc.3322G>T (p.Ala1108Ser)
n.421-29754G>T
12g.6023688C>GCA383512138VWFc.3322G>C (p.Ala1108Pro)
n.421-29754G>C
12g.6023688C>TCA383512139VWFc.3322G>A (p.Ala1108Thr)
n.421-29754G>A
gnomAD v4
12g.6023689A=CA2013874884VWFc.3321T= (p.Tyr1107=)
n.421-29755T=
12g.6023689A>CCA383512140VWFc.3321T>G (p.Tyr1107Ter)
n.421-29755T>G
12g.6023689A>GCA232298113VWFc.3321T>C (p.Tyr1107=)
n.421-29755T>C
dbSNP gnomAD v3 gnomAD v4
12g.6023689A>TCA383512141VWFc.3321T>A (p.Tyr1107Ter)
n.421-29755T>A
12g.6023690T>ACA383512142VWFc.3320A>T (p.Tyr1107Phe)
n.421-29756A>T
12g.6023690T>CCA228392VWFc.3320A>G (p.Tyr1107Cys)
n.421-29756A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.6023690T>GCA383512143VWFc.3320A>C (p.Tyr1107Ser)
n.421-29756A>C
12g.6023690T=CA2013874885VWFc.3320A= (p.Tyr1107=)
n.421-29756A=
12g.6023691A=CA2013874886VWFc.3319T= (p.Tyr1107=)
n.421-29757T=
12g.6023691A>CCA383512144VWFc.3319T>G (p.Tyr1107Asp)
n.421-29757T>G
12g.6023691A>GCA383512145VWFc.3319T>C (p.Tyr1107His)
n.421-29757T>C
dbSNP
12g.6023691A>TCA383512146VWFc.3319T>A (p.Tyr1107Asn)
n.421-29757T>A
gnomAD v4
12g.6023691dupCA2617230399VWFc.3319dup (p.Tyr1107LeufsTer?)
n.421-29757dup
gnomAD v4
12g.6023692G>ACA478101579VWFc.3318C>T (p.Ala1106=)
n.421-29758C>T
dbSNP
12g.6023692G>CCA478101580VWFc.3318C>G (p.Ala1106=)
n.421-29758C>G
12g.6023692G=CA2013874887VWFc.3318C= (p.Ala1106=)
n.421-29758C=
12g.6023692G>TCA478101581VWFc.3318C>A (p.Ala1106=)
n.421-29758C>A
12g.6023693delCA478101582VWFc.3318del (p.Tyr1107MetfsTer12)
n.421-29758del
COSMIC
12g.6023693G>ACA383512148VWFc.3317C>T (p.Ala1106Val)
n.421-29759C>T
12g.6023693G>CCA383512149VWFc.3317C>G (p.Ala1106Gly)
n.421-29759C>G
12g.6023693G>TCA383512147VWFc.3317C>A (p.Ala1106Asp)
n.421-29759C>A
12g.6023694C>ACA383512150VWFc.3316G>T (p.Ala1106Ser)
n.421-29760G>T
COSMIC
12g.6023694C>GCA383512151VWFc.3316G>C (p.Ala1106Pro)
n.421-29760G>C
12g.6023694C>TCA383512152VWFc.3316G>A (p.Ala1106Thr)
n.421-29760G>A
12g.6023695A>CCA478101583VWFc.3315T>G (p.Ala1105=)
n.421-29761T>G
12g.6023695A>GCA478101584VWFc.3315T>C (p.Ala1105=)
n.421-29761T>C
12g.6023695A>TCA478101586VWFc.3315T>A (p.Ala1105=)
n.421-29761T>A
12g.6023696G>ACA383512153VWFc.3314C>T (p.Ala1105Val)
n.421-29762C>T
12g.6023696G>CCA383512154VWFc.3314C>G (p.Ala1105Gly)
n.421-29762C>G
12g.6023696G=CA2013874888VWFc.3314C= (p.Ala1105=)
n.421-29762C=
12g.6023696G>TCA383512155VWFc.3314C>A (p.Ala1105Asp)
n.421-29762C>A
ClinVar dbSNP
12g.6023697C>ACA383512156VWFc.3313G>T (p.Ala1105Ser)
n.421-29763G>T
12g.6023697C>GCA383512158VWFc.3313G>C (p.Ala1105Pro)
n.421-29763G>C
12g.6023697C>TCA383512157VWFc.3313G>A (p.Ala1105Thr)
n.421-29763G>A
12g.6023698A>CCA383512159VWFc.3312T>G (p.Ile1104Met)
n.421-29764T>G
12g.6023698A>GCA478101594VWFc.3312T>C (p.Ile1104=)
n.421-29764T>C
12g.6023698A>TCA478101595VWFc.3312T>A (p.Ile1104=)
n.421-29764T>A
12g.6023699A>CCA383512160VWFc.3311T>G (p.Ile1104Ser)
n.421-29765T>G
12g.6023699A>GCA383512161VWFc.3311T>C (p.Ile1104Thr)
n.421-29765T>C
12g.6023699A>TCA383512162VWFc.3311T>A (p.Ile1104Asn)
n.421-29765T>A
12g.6023700T>ACA383512165VWFc.3310A>T (p.Ile1104Phe)
n.421-29766A>T
12g.6023700T>CCA383512164VWFc.3310A>G (p.Ile1104Val)
n.421-29766A>G
gnomAD v4
12g.6023700T>GCA383512163VWFc.3310A>C (p.Ile1104Leu)
n.421-29766A>C
12g.6023701G>ACA478101598VWFc.3309C>T (p.Thr1103=)
n.421-29767C>T
gnomAD v4
12g.6023701G>CCA478101599VWFc.3309C>G (p.Thr1103=)
n.421-29767C>G
12g.6023701G>TCA478101600VWFc.3309C>A (p.Thr1103=)
n.421-29767C>A
12g.6023702G>ACA383512166VWFc.3308C>T (p.Thr1103Ile)
n.421-29768C>T
12g.6023702G>CCA383512168VWFc.3308C>G (p.Thr1103Ser)
n.421-29768C>G
12g.6023702G>TCA383512167VWFc.3308C>A (p.Thr1103Asn)
n.421-29768C>A
12g.6023703T>ACA383512169VWFc.3307A>T (p.Thr1103Ser)
n.421-29769A>T
gnomAD v4
12g.6023703T>CCA383512170VWFc.3307A>G (p.Thr1103Ala)
n.421-29769A>G
dbSNP gnomAD v2 gnomAD v4
12g.6023703T>GCA232298114VWFc.3307A>C (p.Thr1103Pro)
n.421-29769A>C
dbSNP
12g.6023703T=CA2013874889VWFc.3307A= (p.Thr1103=)
n.421-29769A=
12g.6023703_6023725delinsGGACA2499221805VWFc.3285_3307delinsTCC (p.Asp1096ProfsTer?)
n.421-29791_421-29769delinsTCC
ClinVar dbSNP
12g.6023704G>ACA478101602VWFc.3306C>T (p.Asp1102=)
n.421-29770C>T
12g.6023704G>CCA383512171VWFc.3306C>G (p.Asp1102Glu)
n.421-29770C>G
12g.6023704G>TCA383512172VWFc.3306C>A (p.Asp1102Glu)
n.421-29770C>A
12g.6023705T>ACA383512173VWFc.3305A>T (p.Asp1102Val)
n.421-29771A>T
12g.6023705T>CCA383512174VWFc.3305A>G (p.Asp1102Gly)
n.421-29771A>G
12g.6023705T>GCA383512175VWFc.3305A>C (p.Asp1102Ala)
n.421-29771A>C
12g.6023706C>ACA383512176VWFc.3304G>T (p.Asp1102Tyr)
n.421-29772G>T
12g.6023706C=CA2013874890VWFc.3304G= (p.Asp1102=)
n.421-29772G=
12g.6023706C>GCA383512177VWFc.3304G>C (p.Asp1102His)
n.421-29772G>C
12g.6023706C>TCA6402779VWFc.3304G>A (p.Asp1102Asn)
n.421-29772G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023707G>ACA6402780VWFc.3303C>T (p.Cys1101=)
n.421-29773C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023707G>CCA228390VWFc.3303C>G (p.Cys1101Trp)
n.421-29773C>G
ClinVar dbSNP
12g.6023707G=CA2013874891VWFc.3303C= (p.Cys1101=)
n.421-29773C=
12g.6023707G>TCA383512178VWFc.3303C>A (p.Cys1101Ter)
n.421-29773C>A
gnomAD v4
12g.6023708C>ACA383512179VWFc.3302G>T (p.Cys1101Phe)
n.421-29774G>T
COSMIC
12g.6023708C>GCA383512180VWFc.3302G>C (p.Cys1101Ser)
n.421-29774G>C
12g.6023708C>TCA383512181VWFc.3302G>A (p.Cys1101Tyr)
n.421-29774G>A
12g.6023709A=CA2013874892VWFc.3301T= (p.Cys1101=)
n.421-29775T=
12g.6023709A>CCA232298115VWFc.3301T>G (p.Cys1101Gly)
n.421-29775T>G
dbSNP gnomAD v4
12g.6023709A>GCA228388VWFc.3301T>C (p.Cys1101Arg)
n.421-29775T>C
ClinVar dbSNP
12g.6023709A>TCA383512182VWFc.3301T>A (p.Cys1101Ser)
n.421-29775T>A
12g.6023710G>ACA478101611VWFc.3300C>T (p.Phe1100=)
n.421-29776C>T
gnomAD v4 COSMIC
12g.6023710G>CCA383512183VWFc.3300C>G (p.Phe1100Leu)
n.421-29776C>G
12g.6023710G>TCA383512184VWFc.3300C>A (p.Phe1100Leu)
n.421-29776C>A
12g.6023711A>CCA383512185VWFc.3299T>G (p.Phe1100Cys)
n.421-29777T>G
12g.6023711A>GCA383512186VWFc.3299T>C (p.Phe1100Ser)
n.421-29777T>C
gnomAD v4
12g.6023711A>TCA383512187VWFc.3299T>A (p.Phe1100Tyr)
n.421-29777T>A
12g.6023712A>CCA383512189VWFc.3298T>G (p.Phe1100Val)
n.421-29778T>G
12g.6023712A>GCA383512190VWFc.3298T>C (p.Phe1100Leu)
n.421-29778T>C
12g.6023712A>TCA383512188VWFc.3298T>A (p.Phe1100Ile)
n.421-29778T>A
12g.6023718_6023747delCA2695216052VWFc.3269_3298del (p.Ser1090_Cys1099del)
n.421-29807_421-29778del
12g.6023713G>ACA478101613VWFc.3297C>T (p.Cys1099=)
n.421-29779C>T
12g.6023713G>CCA383512191VWFc.3297C>G (p.Cys1099Trp)
n.421-29779C>G
12g.6023713G>TCA383512192VWFc.3297C>A (p.Cys1099Ter)
n.421-29779C>A
12g.6023714C>ACA383512193VWFc.3296G>T (p.Cys1099Phe)
n.421-29780G>T
12g.6023714C=CA2013874893VWFc.3296G= (p.Cys1099=)
n.421-29780G=
12g.6023714C>GCA383512194VWFc.3296G>C (p.Cys1099Ser)
n.421-29780G>C
12g.6023714C>TCA383512195VWFc.3296G>A (p.Cys1099Tyr)
n.421-29780G>A
dbSNP
12g.6023714_6023715delinsGGCA2695216053VWFc.3295_3296delinsCC (p.Cys1099Pro)
n.421-29781_421-29780delinsCC
12g.6023715A>CCA383512198VWFc.3295T>G (p.Cys1099Gly)
n.421-29781T>G
12g.6023715A>GCA383512197VWFc.3295T>C (p.Cys1099Arg)
n.421-29781T>C
12g.6023715A>TCA383512196VWFc.3295T>A (p.Cys1099Ser)
n.421-29781T>A
12g.6023716G>ACA478101614VWFc.3294C>T (p.Ala1098=)
n.421-29782C>T
12g.6023716G>CCA478101615VWFc.3294C>G (p.Ala1098=)
n.421-29782C>G
gnomAD v4
12g.6023716G>TCA478101617VWFc.3294C>A (p.Ala1098=)
n.421-29782C>A
12g.6023717G>ACA383512199VWFc.3293C>T (p.Ala1098Val)
n.421-29783C>T
12g.6023717G>CCA383512200VWFc.3293C>G (p.Ala1098Gly)
n.421-29783C>G
12g.6023717G>TCA383512201VWFc.3293C>A (p.Ala1098Asp)
n.421-29783C>A
12g.6023718C>ACA383512202VWFc.3292G>T (p.Ala1098Ser)
n.421-29784G>T
gnomAD v4
12g.6023718C=CA2013874894VWFc.3292G= (p.Ala1098=)
n.421-29784G=
12g.6023718C>GCA383512203VWFc.3292G>C (p.Ala1098Pro)
n.421-29784G>C
12g.6023718C>TCA6402781VWFc.3292G>A (p.Ala1098Thr)
n.421-29784G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.6023719G>ACA6402782VWFc.3291C>T (p.Cys1097=)
n.421-29785C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023719G>CCA383512205VWFc.3291C>G (p.Cys1097Trp)
n.421-29785C>G
dbSNP gnomAD v2 gnomAD v4
12g.6023719G=CA2013874895VWFc.3291C= (p.Cys1097=)
n.421-29785C=
12g.6023719G>TCA383512204VWFc.3291C>A (p.Cys1097Ter)
n.421-29785C>A
12g.6023720C>ACA383512206VWFc.3290G>T (p.Cys1097Phe)
n.421-29786G>T
12g.6023720C=CA2013874897VWFc.3290G= (p.Cys1097=)
n.421-29786G=
12g.6023720C>GCA383512207VWFc.3290G>C (p.Cys1097Ser)
n.421-29786G>C
12g.6023720C>TCA232298116VWFc.3290G>A (p.Cys1097Tyr)
n.421-29786G>A
dbSNP
12g.6023721A>CCA383512208VWFc.3289T>G (p.Cys1097Gly)
n.421-29787T>G
12g.6023721A>GCA383512209VWFc.3289T>C (p.Cys1097Arg)
n.421-29787T>C
gnomAD v4
12g.6023721A>TCA383512210VWFc.3289T>A (p.Cys1097Ser)
n.421-29787T>A
12g.6023722G>ACA478101623VWFc.3288C>T (p.Asp1096=)
n.421-29788C>T
12g.6023722G>CCA383512211VWFc.3288C>G (p.Asp1096Glu)
n.421-29788C>G
12g.6023722G>TCA383512212VWFc.3288C>A (p.Asp1096Glu)
n.421-29788C>A
12g.6023723T>ACA383512213VWFc.3287A>T (p.Asp1096Val)
n.421-29789A>T
12g.6023723T>CCA383512214VWFc.3287A>G (p.Asp1096Gly)
n.421-29789A>G
12g.6023723T>GCA383512215VWFc.3287A>C (p.Asp1096Ala)
n.421-29789A>C
12g.6023724C>ACA383512217VWFc.3286G>T (p.Asp1096Tyr)
n.421-29790G>T
gnomAD v4
12g.6023724C=CA2013874900VWFc.3286G= (p.Asp1096=)
n.421-29790G=
12g.6023724C>GCA383512216VWFc.3286G>C (p.Asp1096His)
n.421-29790G>C
ClinVar dbSNP gnomAD v4
12g.6023724C>TCA6402783VWFc.3286G>A (p.Asp1096Asn)
n.421-29790G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6023725C>ACA478101626VWFc.3285G>T (p.Gly1095=)
n.421-29791G>T
12g.6023725C=CA2013874902VWFc.3285G= (p.Gly1095=)
n.421-29791G=
12g.6023725C>GCA478101627VWFc.3285G>C (p.Gly1095=)
n.421-29791G>C
12g.6023725C>TCA478101628VWFc.3285G>A (p.Gly1095=)
n.421-29791G>A
dbSNP gnomAD v2 gnomAD v4
12g.6023726C>ACA383512218VWFc.3284G>T (p.Gly1095Val)
n.421-29792G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6023726C=CA2013874903VWFc.3284G= (p.Gly1095=)
n.421-29792G=
12g.6023726C>GCA383512220VWFc.3284G>C (p.Gly1095Ala)
n.421-29792G>C
12g.6023726C>TCA383512219VWFc.3284G>A (p.Gly1095Glu)
n.421-29792G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6023727C>ACA383512221VWFc.3283G>T (p.Gly1095Trp)
n.421-29793G>T
gnomAD v4
12g.6023727C>GCA383512223VWFc.3283G>C (p.Gly1095Arg)
n.421-29793G>C
12g.6023727C>TCA383512222VWFc.3283G>A (p.Gly1095Arg)
n.421-29793G>A
12g.6023728A>CCA383512224VWFc.3282T>G (p.Ile1094Met)
n.421-29794T>G
gnomAD v4
12g.6023728A>GCA478101630VWFc.3282T>C (p.Ile1094=)
n.421-29794T>C
12g.6023728A>TCA478101631VWFc.3282T>A (p.Ile1094=)
n.421-29794T>A
gnomAD v4
12g.6023729A=CA2013874906VWFc.3281T= (p.Ile1094=)
n.421-29795T=
12g.6023729A>CCA383512226VWFc.3281T>G (p.Ile1094Ser)
n.421-29795T>G
COSMIC
12g.6023729A>GCA228386VWFc.3281T>C (p.Ile1094Thr)
n.421-29795T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023729A>TCA383512225VWFc.3281T>A (p.Ile1094Asn)
n.421-29795T>A
12g.6023730T>ACA383512227VWFc.3280A>T (p.Ile1094Phe)
n.421-29796A>T
12g.6023730T>CCA383512228VWFc.3280A>G (p.Ile1094Val)
n.421-29796A>G
12g.6023730T>GCA383512229VWFc.3280A>C (p.Ile1094Leu)
n.421-29796A>C
12g.6023731G>ACA478101635VWFc.3279C>T (p.Ser1093=)
n.421-29797C>T
gnomAD v4
12g.6023731G>CCA478101636VWFc.3279C>G (p.Ser1093=)
n.421-29797C>G
12g.6023731G>TCA478101637VWFc.3279C>A (p.Ser1093=)
n.421-29797C>A
12g.6023732G>ACA383512230VWFc.3278C>T (p.Ser1093Phe)
n.421-29798C>T
12g.6023732G>CCA383512231VWFc.3278C>G (p.Ser1093Cys)
n.421-29798C>G
12g.6023732G>TCA383512232VWFc.3278C>A (p.Ser1093Tyr)
n.421-29798C>A
12g.6023733A>CCA383512233VWFc.3277T>G (p.Ser1093Ala)
n.421-29799T>G
12g.6023733A>GCA383512234VWFc.3277T>C (p.Ser1093Pro)
n.421-29799T>C
12g.6023733A>TCA383512235VWFc.3277T>A (p.Ser1093Thr)
n.421-29799T>A
12g.6023734C>ACA383512237VWFc.3276G>T (p.Glu1092Asp)
n.421-29800G>T
12g.6023734C>GCA383512236VWFc.3276G>C (p.Glu1092Asp)
n.421-29800G>C
gnomAD v4
12g.6023734C>TCA478101641VWFc.3276G>A (p.Glu1092=)
n.421-29800G>A
12g.6023735T>ACA383512238VWFc.3275A>T (p.Glu1092Val)
n.421-29801A>T
12g.6023735T>CCA383512239VWFc.3275A>G (p.Glu1092Gly)
n.421-29801A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6023735T>GCA383512240VWFc.3275A>C (p.Glu1092Ala)
n.421-29801A>C
12g.6023735T=CA2013874907VWFc.3275A= (p.Glu1092=)
n.421-29801A=
12g.6023736C>ACA383512241VWFc.3274G>T (p.Glu1092Ter)
n.421-29802G>T
12g.6023736C>GCA383512242VWFc.3274G>C (p.Glu1092Gln)
n.421-29802G>C
12g.6023736C>TCA383512243VWFc.3274G>A (p.Glu1092Lys)
n.421-29802G>A
12g.6023737A>CCA383512244VWFc.3273T>G (p.Cys1091Trp)
n.421-29803T>G
12g.6023737A>GCA478101645VWFc.3273T>C (p.Cys1091=)
n.421-29803T>C
12g.6023737A>TCA383512245VWFc.3273T>A (p.Cys1091Ter)
n.421-29803T>A
12g.6023738C>ACA383512246VWFc.3272G>T (p.Cys1091Phe)
n.421-29804G>T
12g.6023738C>GCA383512247VWFc.3272G>C (p.Cys1091Ser)
n.421-29804G>C
12g.6023738C>TCA383512248VWFc.3272G>A (p.Cys1091Tyr)
n.421-29804G>A
12g.6023739A>CCA383512250VWFc.3271T>G (p.Cys1091Gly)
n.421-29805T>G
12g.6023739A>GCA383512251VWFc.3271T>C (p.Cys1091Arg)
n.421-29805T>C
gnomAD v4
12g.6023739A>TCA383512249VWFc.3271T>A (p.Cys1091Ser)
n.421-29805T>A
12g.6023739_6023740delinsAGCA2013874909VWFc.3270_3271delinsCT (p.Ser1090=)
n.421-29806_421-29805delinsCT
12g.6023740G>ACA478101651VWFc.3270C>T (p.Ser1090=)
n.421-29806C>T
dbSNP gnomAD v3 gnomAD v4
12g.6023740G>CCA478101650VWFc.3270C>G (p.Ser1090=)
n.421-29806C>G
12g.6023740G=CA2013874911VWFc.3270C= (p.Ser1090=)
n.421-29806C=
12g.6023740G>TCA478101653VWFc.3270C>A (p.Ser1090=)
n.421-29806C>A
COSMIC
12g.6023741delCA6402784VWFc.3270del (p.Cys1091ValfsTer28)
n.421-29806del
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6023741G>ACA6402785VWFc.3269C>T (p.Ser1090Phe)
n.421-29807C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023741G>CCA383512252VWFc.3269C>G (p.Ser1090Cys)
n.421-29807C>G
12g.6023741G=CA2013874913VWFc.3269C= (p.Ser1090=)
n.421-29807C=
12g.6023741G>TCA383512253VWFc.3269C>A (p.Ser1090Tyr)
n.421-29807C>A
dbSNP gnomAD v3 gnomAD v4
12g.6023742A>CCA383512254VWFc.3268T>G (p.Ser1090Ala)
n.421-29808T>G
12g.6023742A>GCA383512255VWFc.3268T>C (p.Ser1090Pro)
n.421-29808T>C
12g.6023742A>TCA383512256VWFc.3268T>A (p.Ser1090Thr)
n.421-29808T>A
12g.6023744_6023746delCA2794406197VWFc.3266_3268del (p.Cys1089del)
n.421-29810_421-29808del
12g.6023743G>ACA478101655VWFc.3267C>T (p.Cys1089=)
n.421-29809C>T
gnomAD v4
12g.6023743G>CCA383512257VWFc.3267C>G (p.Cys1089Trp)
n.421-29809C>G
12g.6023743G>TCA383512258VWFc.3267C>A (p.Cys1089Ter)
n.421-29809C>A
12g.6023744C>ACA383512259VWFc.3266G>T (p.Cys1089Phe)
n.421-29810G>T
12g.6023744C>GCA383512260VWFc.3266G>C (p.Cys1089Ser)
n.421-29810G>C
12g.6023744C>TCA383512261VWFc.3266G>A (p.Cys1089Tyr)
n.421-29810G>A
gnomAD v4
12g.6023745A>CCA383512264VWFc.3265T>G (p.Cys1089Gly)
n.421-29811T>G
12g.6023745A>GCA383512262VWFc.3265T>C (p.Cys1089Arg)
n.421-29811T>C
12g.6023745A>TCA383512263VWFc.3265T>A (p.Cys1089Ser)
n.421-29811T>A
12g.6023746G>ACA6402786VWFc.3264C>T (p.Thr1088=)
n.421-29812C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023746G>CCA478101663VWFc.3264C>G (p.Thr1088=)
n.421-29812C>G
gnomAD v4
12g.6023746G=CA2013874915VWFc.3264C= (p.Thr1088=)
n.421-29812C=
12g.6023746G>TCA478101665VWFc.3264C>A (p.Thr1088=)
n.421-29812C>A
12g.6023747G>ACA383512265VWFc.3263C>T (p.Thr1088Ile)
n.421-29813C>T
gnomAD v4
12g.6023747G>CCA383512266VWFc.3263C>G (p.Thr1088Ser)
n.421-29813C>G
12g.6023747G>TCA383512267VWFc.3263C>A (p.Thr1088Asn)
n.421-29813C>A
12g.6023748T>ACA383512268VWFc.3262A>T (p.Thr1088Ser)
n.421-29814A>T
12g.6023748T>CCA383512269VWFc.3262A>G (p.Thr1088Ala)
n.421-29814A>G
12g.6023748T>GCA383512270VWFc.3262A>C (p.Thr1088Pro)
n.421-29814A>C
dbSNP
12g.6023748T=CA2013874918VWFc.3262A= (p.Thr1088=)
n.421-29814A=
12g.6023748_6023751delinsTGTCCA2013874917VWFc.3259_3262delinsGACA (p.Asp1087=)
n.421-29817_421-29814delinsGACA
12g.6023749G>ACA478101669VWFc.3261C>T (p.Asp1087=)
n.421-29815C>T
gnomAD v4
12g.6023749G>CCA383512271VWFc.3261C>G (p.Asp1087Glu)
n.421-29815C>G
12g.6023749G>TCA383512272VWFc.3261C>A (p.Asp1087Glu)
n.421-29815C>A
12g.6023751_6023753delCA603483077VWFc.3259_3261del (p.Asp1087del)
n.421-29817_421-29815del
dbSNP gnomAD v2 gnomAD v4
12g.6023750T>ACA383512273VWFc.3260A>T (p.Asp1087Val)
n.421-29816A>T
12g.6023750T>CCA383512274VWFc.3260A>G (p.Asp1087Gly)
n.421-29816A>G
12g.6023750T>GCA383512275VWFc.3260A>C (p.Asp1087Ala)
n.421-29816A>C
12g.6023751C>ACA383512276VWFc.3259G>T (p.Asp1087Tyr)
n.421-29817G>T
12g.6023751C=CA2013874921VWFc.3259G= (p.Asp1087=)
n.421-29817G=
12g.6023751C>GCA383512277VWFc.3259G>C (p.Asp1087His)
n.421-29817G>C
gnomAD v4
12g.6023751C>TCA6402787VWFc.3259G>A (p.Asp1087Asn)
n.421-29817G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.6023751_6023752insACA2695216054VWFc.3258_3259insT (p.Asp1087Ter)
n.421-29818_421-29817insT
12g.6023752G>ACA6402788VWFc.3258C>T (p.Tyr1086=)
n.421-29818C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6023752G>CCA383512278VWFc.3258C>G (p.Tyr1086Ter)
n.421-29818C>G
12g.6023752G=CA2013874923VWFc.3258C= (p.Tyr1086=)
n.421-29818C=
12g.6023752G>TCA383512279VWFc.3258C>A (p.Tyr1086Ter)
n.421-29818C>A
12g.6023753T>ACA383512280VWFc.3257A>T (p.Tyr1086Phe)
n.421-29819A>T
12g.6023753T>CCA383512281VWFc.3257A>G (p.Tyr1086Cys)
n.421-29819A>G
gnomAD v4
12g.6023753T>GCA383512282VWFc.3257A>C (p.Tyr1086Ser)
n.421-29819A>C
12g.6023753_6023754delinsTACA2013874925VWFc.3256_3257delinsTA (p.Tyr1086=)
n.421-29820_421-29819delinsTA
12g.6023754A>CCA383512283VWFc.3256T>G (p.Tyr1086Asp)
n.421-29820T>G
12g.6023754A>GCA383512284VWFc.3256T>C (p.Tyr1086His)
n.421-29820T>C
12g.6023754A>TCA383512285VWFc.3256T>A (p.Tyr1086Asn)
n.421-29820T>A
12g.6023756delCA690482698VWFc.3256del (p.Tyr1086ThrfsTer?)
n.421-29820del
dbSNP gnomAD v3 gnomAD v4
12g.6023755A>CCA383512286VWFc.3255T>G (p.Ile1085Met)
n.421-29821T>G
12g.6023755A>GCA478101676VWFc.3255T>C (p.Ile1085=)
n.421-29821T>C
12g.6023755A>TCA478101675VWFc.3255T>A (p.Ile1085=)
n.421-29821T>A
12g.6023756A>CCA383512287VWFc.3254T>G (p.Ile1085Ser)
n.421-29822T>G
12g.6023756A>GCA383512288VWFc.3254T>C (p.Ile1085Thr)
n.421-29822T>C
12g.6023756A>TCA383512289VWFc.3254T>A (p.Ile1085Asn)
n.421-29822T>A
12g.6023757T>ACA383512292VWFc.3253A>T (p.Ile1085Phe)
n.421-29823A>T
12g.6023757T>CCA383512291VWFc.3253A>G (p.Ile1085Val)
n.421-29823A>G
12g.6023757T>GCA383512290VWFc.3253A>C (p.Ile1085Leu)
n.421-29823A>C
12g.6023757_6023758delinsTGCA2013874927VWFc.3252_3253delinsCA (p.Cys1084=)
n.421-29824_421-29823delinsCA
12g.6023758delCA6402789VWFc.3252del (p.Cys1084Ter)
n.421-29824del
dbSNP ExAC gnomAD v2
12g.6023758G>ACA478101679VWFc.3252C>T (p.Cys1084=)
n.421-29824C>T
dbSNP gnomAD v2 gnomAD v4
12g.6023758G>CCA383512293VWFc.3252C>G (p.Cys1084Trp)
n.421-29824C>G
12g.6023758G=CA2013874929VWFc.3252C= (p.Cys1084=)
n.421-29824C=
12g.6023758G>TCA383512294VWFc.3252C>A (p.Cys1084Ter)
n.421-29824C>A
12g.6023759C>ACA383512295VWFc.3251G>T (p.Cys1084Phe)
n.421-29825G>T
12g.6023759C=CA2013874931VWFc.3251G= (p.Cys1084=)
n.421-29825G=
12g.6023759C>GCA383512296VWFc.3251G>C (p.Cys1084Ser)
n.421-29825G>C
12g.6023759C>TCA6402790VWFc.3251G>A (p.Cys1084Tyr)
n.421-29825G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.6023760A>CCA383512297VWFc.3250T>G (p.Cys1084Gly)
n.421-29826T>G
12g.6023760A>GCA383512298VWFc.3250T>C (p.Cys1084Arg)
n.421-29826T>C
12g.6023760A>TCA383512299VWFc.3250T>A (p.Cys1084Ser)
n.421-29826T>A

Number of alleles fetched