Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6044304C>ACA383521906VWFc.2429G>T (p.Cys810Phe)
n.421-50370G>T
12g.6044304C>GCA383521908VWFc.2429G>C (p.Cys810Ser)
n.421-50370G>C
12g.6044304C>TCA383521907VWFc.2429G>A (p.Cys810Tyr)
n.421-50370G>A
12g.6044305A>CCA383521909VWFc.2428T>G (p.Cys810Gly)
n.421-50371T>G
12g.6044305A>GCA383521910VWFc.2428T>C (p.Cys810Arg)
n.421-50371T>C
12g.6044305A>TCA383521911VWFc.2428T>A (p.Cys810Ser)
n.421-50371T>A
12g.6044306G>ACA478103292VWFc.2427C>T (p.Leu809=)
n.421-50372C>T
12g.6044306G>CCA478103293VWFc.2427C>G (p.Leu809=)
n.421-50372C>G
12g.6044306G>TCA478103294VWFc.2427C>A (p.Leu809=)
n.421-50372C>A
12g.6044307A>CCA383521915VWFc.2426T>G (p.Leu809Arg)
n.421-50373T>G
12g.6044307A>GCA383521916VWFc.2426T>C (p.Leu809Pro)
n.421-50373T>C
12g.6044307A>TCA383521917VWFc.2426T>A (p.Leu809His)
n.421-50373T>A
12g.6044308G>ACA383521918VWFc.2425C>T (p.Leu809Phe)
n.421-50374C>T
gnomAD v4
12g.6044308G>CCA383521919VWFc.2425C>G (p.Leu809Val)
n.421-50374C>G
12g.6044308G>TCA383521920VWFc.2425C>A (p.Leu809Ile)
n.421-50374C>A
12g.6044309G>ACA478103296VWFc.2424C>T (p.Cys808=)
n.421-50375C>T
12g.6044309G>CCA383521923VWFc.2424C>G (p.Cys808Trp)
n.421-50375C>G
12g.6044309G=CA2013884541VWFc.2424C= (p.Cys808=)
n.421-50375C=
12g.6044309G>TCA383521924VWFc.2424C>A (p.Cys808Ter)
n.421-50375C>A
12g.6044309_6044310insAAGCCAGAGACA603103436VWFc.2423_2424insTCTCTGGCTT (p.Cys810TrpfsTer12)
n.421-50376_421-50375insTCTCTGGCTT
dbSNP gnomAD v2 gnomAD v4
12g.6044310C>ACA383521927VWFc.2423G>T (p.Cys808Phe)
n.421-50376G>T
12g.6044310C>GCA383521930VWFc.2423G>C (p.Cys808Ser)
n.421-50376G>C
gnomAD v4
12g.6044310C>TCA383521928VWFc.2423G>A (p.Cys808Tyr)
n.421-50376G>A
12g.6044311A>CCA383521932VWFc.2422T>G (p.Cys808Gly)
n.421-50377T>G
12g.6044311A>GCA383521934VWFc.2422T>C (p.Cys808Arg)
n.421-50377T>C
12g.6044311A>TCA383521937VWFc.2422T>A (p.Cys808Ser)
n.421-50377T>A
12g.6044312G>ACA478103298VWFc.2421C>T (p.Gly807=)
n.421-50378C>T
gnomAD v4
12g.6044312G>CCA478103299VWFc.2421C>G (p.Gly807=)
n.421-50378C>G
12g.6044312G>TCA478103300VWFc.2421C>A (p.Gly807=)
n.421-50378C>A
12g.6044313C>ACA383521939VWFc.2420G>T (p.Gly807Val)
n.421-50379G>T
12g.6044313C>GCA383521941VWFc.2420G>C (p.Gly807Ala)
n.421-50379G>C
12g.6044313C>TCA383521943VWFc.2420G>A (p.Gly807Asp)
n.421-50379G>A
12g.6044314C>ACA383521945VWFc.2419G>T (p.Gly807Cys)
n.421-50380G>T
12g.6044314C>GCA383521947VWFc.2419G>C (p.Gly807Arg)
n.421-50380G>C
12g.6044314C>TCA383521948VWFc.2419G>A (p.Gly807Ser)
n.421-50380G>A
12g.6044315A>CCA478103301VWFc.2418T>G (p.Ser806=)
n.421-50381T>G
12g.6044315A>GCA478103302VWFc.2418T>C (p.Ser806=)
n.421-50381T>C
12g.6044315A>TCA478103304VWFc.2418T>A (p.Ser806=)
n.421-50381T>A
12g.6044318_6044319delCA2695215959VWFc.2417_2418del (p.Ser806TrpfsTer12)
n.421-50382_421-50381del
12g.6044316G>ACA383521952VWFc.2417C>T (p.Ser806Phe)
n.421-50382C>T
dbSNP gnomAD v3 gnomAD v4
12g.6044316G>CCA383521954VWFc.2417C>G (p.Ser806Cys)
n.421-50382C>G
12g.6044316G=CA2013884542VWFc.2417C= (p.Ser806=)
n.421-50382C=
12g.6044316G>TCA383521950VWFc.2417C>A (p.Ser806Tyr)
n.421-50382C>A
12g.6044317A>CCA383521956VWFc.2416T>G (p.Ser806Ala)
n.421-50383T>G
12g.6044317A>GCA383521958VWFc.2416T>C (p.Ser806Pro)
n.421-50383T>C
12g.6044317A>TCA383521960VWFc.2416T>A (p.Ser806Thr)
n.421-50383T>A
12g.6044318G>ACA478103305VWFc.2415C>T (p.Val805=)
n.421-50384C>T
12g.6044318G>CCA478103307VWFc.2415C>G (p.Val805=)
n.421-50384C>G
dbSNP gnomAD v4
12g.6044318G=CA2013884543VWFc.2415C= (p.Val805=)
n.421-50384C=
12g.6044318G>TCA478103306VWFc.2415C>A (p.Val805=)
n.421-50384C>A
12g.6044319A>CCA383521961VWFc.2414T>G (p.Val805Gly)
n.421-50385T>G
12g.6044319A>GCA383521963VWFc.2414T>C (p.Val805Ala)
n.421-50385T>C
12g.6044319A>TCA383521965VWFc.2414T>A (p.Val805Asp)
n.421-50385T>A
12g.6044320C>ACA383521966VWFc.2413G>T (p.Val805Phe)
n.421-50386G>T
12g.6044320C=CA2013884544VWFc.2413G= (p.Val805=)
n.421-50386G=
12g.6044320C>GCA383521969VWFc.2413G>C (p.Val805Leu)
n.421-50386G>C
12g.6044320C>TCA383521972VWFc.2413G>A (p.Val805Ile)
n.421-50386G>A
dbSNP gnomAD v2 gnomAD v4
12g.6044321A>CCA383521974VWFc.2412T>G (p.Cys804Trp)
n.421-50387T>G
12g.6044321A>GCA478103308VWFc.2412T>C (p.Cys804=)
n.421-50387T>C
12g.6044321A>TCA383521977VWFc.2412T>A (p.Cys804Ter)
n.421-50387T>A
12g.6044322C>ACA114168VWFc.2411G>T (p.Cys804Phe)
n.421-50388G>T
ClinVar dbSNP
12g.6044322C=CA2013884545VWFc.2411G= (p.Cys804=)
n.421-50388G=
12g.6044322C>GCA383521981VWFc.2411G>C (p.Cys804Ser)
n.421-50388G>C
12g.6044322C>TCA383521979VWFc.2411G>A (p.Cys804Tyr)
n.421-50388G>A
12g.6044323A>CCA383521982VWFc.2410T>G (p.Cys804Gly)
n.421-50389T>G
12g.6044323A>GCA383521984VWFc.2410T>C (p.Cys804Arg)
n.421-50389T>C
12g.6044323A>TCA383521986VWFc.2410T>A (p.Cys804Ser)
n.421-50389T>A
12g.6044324G>ACA478103309VWFc.2409C>T (p.Gly803=)
n.421-50390C>T
12g.6044324G>CCA232300399VWFc.2409C>G (p.Gly803=)
n.421-50390C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6044324G=CA2013884546VWFc.2409C= (p.Gly803=)
n.421-50390C=
12g.6044324G>TCA478103310VWFc.2409C>A (p.Gly803=)
n.421-50390C>A
12g.6044325C>ACA383521991VWFc.2408G>T (p.Gly803Val)
n.421-50391G>T
12g.6044325C=CA2013884547VWFc.2408G= (p.Gly803=)
n.421-50391G=
12g.6044325C>GCA383521992VWFc.2408G>C (p.Gly803Ala)
n.421-50391G>C
12g.6044325C>TCA383521993VWFc.2408G>A (p.Gly803Asp)
n.421-50391G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.6044326C>ACA383521994VWFc.2407G>T (p.Gly803Cys)
n.421-50392G>T
12g.6044326C>GCA383521995VWFc.2407G>C (p.Gly803Arg)
n.421-50392G>C
gnomAD v4
12g.6044326C>TCA383521997VWFc.2407G>A (p.Gly803Ser)
n.421-50392G>A
12g.6044327C>ACA383521999VWFc.2406G>T (p.Met802Ile)
n.421-50393G>T
12g.6044327C>GCA383522001VWFc.2406G>C (p.Met802Ile)
n.421-50393G>C
12g.6044327C>TCA383522003VWFc.2406G>A (p.Met802Ile)
n.421-50393G>A
12g.6044328A=CA2013884548VWFc.2405T= (p.Met802=)
n.421-50394T=
12g.6044328A>CCA383522007VWFc.2405T>G (p.Met802Arg)
n.421-50394T>G
12g.6044328A>GCA383522008VWFc.2405T>C (p.Met802Thr)
n.421-50394T>C
dbSNP gnomAD v3 gnomAD v4
12g.6044328A>TCA383522005VWFc.2405T>A (p.Met802Lys)
n.421-50394T>A
12g.6044329T>ACA383522014VWFc.2404A>T (p.Met802Leu)
n.421-50395A>T
dbSNP gnomAD v4
12g.6044329T>CCA383522010VWFc.2404A>G (p.Met802Val)
n.421-50395A>G
12g.6044329T>GCA383522012VWFc.2404A>C (p.Met802Leu)
n.421-50395A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6044329T=CA2013884549VWFc.2404A= (p.Met802=)
n.421-50395A=
12g.6044330G>ACA478103312VWFc.2403C>T (p.Ser801=)
n.421-50396C>T
12g.6044330G>CCA383522016VWFc.2403C>G (p.Ser801Arg)
n.421-50396C>G
12g.6044330G>TCA383522018VWFc.2403C>A (p.Ser801Arg)
n.421-50396C>A
12g.6044331C>ACA383522020VWFc.2402G>T (p.Ser801Ile)
n.421-50397G>T
12g.6044331C>GCA383522022VWFc.2402G>C (p.Ser801Thr)
n.421-50397G>C
gnomAD v4
12g.6044331C>TCA383522023VWFc.2402G>A (p.Ser801Asn)
n.421-50397G>A
gnomAD v4
12g.6044332T>ACA383522025VWFc.2401A>T (p.Ser801Cys)
n.421-50398A>T
12g.6044332T>CCA383522027VWFc.2401A>G (p.Ser801Gly)
n.421-50398A>G
12g.6044332T>GCA383522028VWFc.2401A>C (p.Ser801Arg)
n.421-50398A>C
12g.6044333C>ACA383522031VWFc.2400G>T (p.Met800Ile)
n.421-50399G>T
12g.6044333C>GCA383522033VWFc.2400G>C (p.Met800Ile)
n.421-50399G>C
12g.6044333C>TCA383522035VWFc.2400G>A (p.Met800Ile)
n.421-50399G>A
12g.6044335_6044338dupCA2499221820VWFc.2397_2400dup (p.Ser801HisfsTer19)
n.421-50402_421-50399dup
ClinVar dbSNP
12g.6044334A=CA2013884550VWFc.2399T= (p.Met800=)
n.421-50400T=
12g.6044334A>CCA383522040VWFc.2399T>G (p.Met800Arg)
n.421-50400T>G
gnomAD v4
12g.6044334A>GCA232300400VWFc.2399T>C (p.Met800Thr)
n.421-50400T>C
dbSNP
12g.6044334A>TCA383522038VWFc.2399T>A (p.Met800Lys)
n.421-50400T>A
12g.6044335T>ACA6403083VWFc.2398A>T (p.Met800Leu)
n.421-50401A>T
dbSNP ExAC gnomAD v2
12g.6044335T>CCA228338VWFc.2398A>G (p.Met800Val)
n.421-50401A>G
ClinVar dbSNP
12g.6044335T>GCA383522043VWFc.2398A>C (p.Met800Leu)
n.421-50401A>C
12g.6044335T=CA2013884551VWFc.2398A= (p.Met800=)
n.421-50401A=
12g.6044336G>ACA232300401VWFc.2397C>T (p.Cys799=)
n.421-50402C>T
dbSNP gnomAD v2 gnomAD v4
12g.6044336G>CCA383522044VWFc.2397C>G (p.Cys799Trp)
n.421-50402C>G
12g.6044336G=CA2013884552VWFc.2397C= (p.Cys799=)
n.421-50402C=
12g.6044336G>TCA383522045VWFc.2397C>A (p.Cys799Ter)
n.421-50402C>A
12g.6044337C>ACA383522046VWFc.2396G>T (p.Cys799Phe)
n.421-50403G>T
gnomAD v4
12g.6044337C=CA2013884553VWFc.2396G= (p.Cys799=)
n.421-50403G=
12g.6044337C>GCA383522047VWFc.2396G>C (p.Cys799Ser)
n.421-50403G>C
12g.6044337C>TCA232300402VWFc.2396G>A (p.Cys799Tyr)
n.421-50403G>A
dbSNP gnomAD v3 gnomAD v4
12g.6044338_6044341dupCA2499221821VWFc.2393_2396dup (p.Cys799Ter)
n.421-50406_421-50403dup
ClinVar dbSNP
12g.6044338A>CCA383522048VWFc.2395T>G (p.Cys799Gly)
n.421-50404T>G
12g.6044338A>GCA383522049VWFc.2395T>C (p.Cys799Arg)
n.421-50404T>C
12g.6044338A>TCA383522050VWFc.2395T>A (p.Cys799Ser)
n.421-50404T>A
12g.6044339C>ACA383522051VWFc.2394G>T (p.Glu798Asp)
n.421-50405G>T
12g.6044339C>GCA383522052VWFc.2394G>C (p.Glu798Asp)
n.421-50405G>C
12g.6044339C>TCA478103316VWFc.2394G>A (p.Glu798=)
n.421-50405G>A
gnomAD v4
12g.6044340T>ACA383522053VWFc.2393A>T (p.Glu798Val)
n.421-50406A>T
12g.6044340T>CCA383522054VWFc.2393A>G (p.Glu798Gly)
n.421-50406A>G
12g.6044340T>GCA383522055VWFc.2393A>C (p.Glu798Ala)
n.421-50406A>C
gnomAD v4
12g.6044341C>ACA383522056VWFc.2392G>T (p.Glu798Ter)
n.421-50407G>T
12g.6044341C>GCA383522057VWFc.2392G>C (p.Glu798Gln)
n.421-50407G>C
12g.6044341C>TCA383522058VWFc.2392G>A (p.Glu798Lys)
n.421-50407G>A
COSMIC
12g.6044342C>ACA478103318VWFc.2391G>T (p.Leu797=)
n.421-50408G>T
12g.6044342C>GCA478103319VWFc.2391G>C (p.Leu797=)
n.421-50408G>C
12g.6044342C>TCA478103320VWFc.2391G>A (p.Leu797=)
n.421-50408G>A
12g.6044343A=CA2013884554VWFc.2390T= (p.Leu797=)
n.421-50409T=
12g.6044343A>CCA383522061VWFc.2390T>G (p.Leu797Arg)
n.421-50409T>G
dbSNP gnomAD v4
12g.6044343A>GCA383522059VWFc.2390T>C (p.Leu797Pro)
n.421-50409T>C
12g.6044343A>TCA383522060VWFc.2390T>A (p.Leu797Gln)
n.421-50409T>A
12g.6044344G>ACA6403084VWFc.2389C>T (p.Leu797=)
n.421-50410C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044344G>CCA383522062VWFc.2389C>G (p.Leu797Val)
n.421-50410C>G
12g.6044344G=CA2013884555VWFc.2389C= (p.Leu797=)
n.421-50410C=
12g.6044344G>TCA383522063VWFc.2389C>A (p.Leu797Met)
n.421-50410C>A
12g.6044345G>ACA478103321VWFc.2388C>T (p.Asp796=)
n.421-50411C>T
gnomAD v4
12g.6044345G>CCA383522064VWFc.2388C>G (p.Asp796Glu)
n.421-50411C>G
12g.6044345G=CA2013884556VWFc.2388C= (p.Asp796=)
n.421-50411C=
12g.6044345G>TCA6403085VWFc.2388C>A (p.Asp796Glu)
n.421-50411C>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044346T>ACA383522065VWFc.2387A>T (p.Asp796Val)
n.421-50412A>T
12g.6044346T>CCA383522067VWFc.2387A>G (p.Asp796Gly)
n.421-50412A>G
12g.6044346T>GCA383522066VWFc.2387A>C (p.Asp796Ala)
n.421-50412A>C
12g.6044347C>ACA383522070VWFc.2386G>T (p.Asp796Tyr)
n.421-50413G>T
12g.6044347C=CA2013884557VWFc.2386G= (p.Asp796=)
n.421-50413G=
12g.6044347C>GCA383522072VWFc.2386G>C (p.Asp796His)
n.421-50413G>C
12g.6044347C>TCA6403086VWFc.2386G>A (p.Asp796Asn)
n.421-50413G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044348A=CA1630855466VWFc.2385T= (p.Tyr795=)
n.421-50414T=
12g.6044348A>CCA383522074VWFc.2385T>G (p.Tyr795Ter)
n.421-50414T>G
12g.6044348A>GCA6403087VWFc.2385T>C (p.Tyr795=)
n.421-50414T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044348A>TCA383522077VWFc.2385T>A (p.Tyr795Ter)
n.421-50414T>A
12g.6044349T>ACA383522079VWFc.2384A>T (p.Tyr795Phe)
n.421-50415A>T
12g.6044349T>CCA114166VWFc.2384A>G (p.Tyr795Cys)
n.421-50415A>G
ClinVar dbSNP gnomAD v4
12g.6044349T>GCA383522081VWFc.2384A>C (p.Tyr795Ser)
n.421-50415A>C
dbSNP
12g.6044349T=CA2013884558VWFc.2384A= (p.Tyr795=)
n.421-50415A=
12g.6044350A>CCA383522083VWFc.2383T>G (p.Tyr795Asp)
n.421-50416T>G
12g.6044350A>GCA383522085VWFc.2383T>C (p.Tyr795His)
n.421-50416T>C
gnomAD v4
12g.6044350A>TCA383522087VWFc.2383T>A (p.Tyr795Asn)
n.421-50416T>A
12g.6044351G>ACA478103326VWFc.2382C>T (p.Asn794=)
n.421-50417C>T
12g.6044351G>CCA383522091VWFc.2382C>G (p.Asn794Lys)
n.421-50417C>G
12g.6044351G>TCA383522089VWFc.2382C>A (p.Asn794Lys)
n.421-50417C>A
12g.6044352T>ACA383522093VWFc.2381A>T (p.Asn794Ile)
n.421-50418A>T
12g.6044352T>CCA383522096VWFc.2381A>G (p.Asn794Ser)
n.421-50418A>G
12g.6044352T>GCA6403088VWFc.2381A>C (p.Asn794Thr)
n.421-50418A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044352T=CA2013884559VWFc.2381A= (p.Asn794=)
n.421-50418A=
12g.6044353dupCA645575765VWFc.2381dup (p.Asn794LysfsTer3)
n.421-50418dup
COSMIC
12g.6044353T>ACA383522098VWFc.2380A>T (p.Asn794Tyr)
n.421-50419A>T
12g.6044353T>CCA383522102VWFc.2380A>G (p.Asn794Asp)
n.421-50419A>G
12g.6044353T>GCA383522100VWFc.2380A>C (p.Asn794His)
n.421-50419A>C
12g.6044354C>ACA383522104VWFc.2379G>T (p.Gln793His)
n.421-50420G>T
12g.6044354C>GCA383522106VWFc.2379G>C (p.Gln793His)
n.421-50420G>C
12g.6044354C>TCA478103328VWFc.2379G>A (p.Gln793=)
n.421-50420G>A
12g.6044355T>ACA383522108VWFc.2378A>T (p.Gln793Leu)
n.421-50421A>T
12g.6044355T>CCA383522110VWFc.2378A>G (p.Gln793Arg)
n.421-50421A>G
dbSNP gnomAD v3 gnomAD v4
12g.6044355T>GCA383522111VWFc.2378A>C (p.Gln793Pro)
n.421-50421A>C
12g.6044355T=CA2013884560VWFc.2378A= (p.Gln793=)
n.421-50421A=
12g.6044356G>ACA383522113VWFc.2377C>T (p.Gln793Ter)
n.421-50422C>T
ClinVar dbSNP
12g.6044356G>CCA383522115VWFc.2377C>G (p.Gln793Glu)
n.421-50422C>G
12g.6044356G>TCA383522117VWFc.2377C>A (p.Gln793Lys)
n.421-50422C>A
12g.6044357G>ACA478103329VWFc.2376C>T (p.Cys792=)
n.421-50423C>T
12g.6044357G>CCA383522119VWFc.2376C>G (p.Cys792Trp)
n.421-50423C>G
ClinVar dbSNP
12g.6044357G>TCA383522121VWFc.2376C>A (p.Cys792Ter)
n.421-50423C>A
12g.6044358C>ACA383522123VWFc.2375G>T (p.Cys792Phe)
n.421-50424G>T
dbSNP gnomAD v3 gnomAD v4
12g.6044358C=CA2013884561VWFc.2375G= (p.Cys792=)
n.421-50424G=
12g.6044358C>GCA383522125VWFc.2375G>C (p.Cys792Ser)
n.421-50424G>C
12g.6044358C>TCA383522127VWFc.2375G>A (p.Cys792Tyr)
n.421-50424G>A
12g.6044359A>CCA383522132VWFc.2374T>G (p.Cys792Gly)
n.421-50425T>G
12g.6044359A>GCA383522130VWFc.2374T>C (p.Cys792Arg)
n.421-50425T>C
ClinVar
12g.6044359A>TCA383522129VWFc.2374T>A (p.Cys792Ser)
n.421-50425T>A
12g.6044360C>ACA478103330VWFc.2373G>T (p.Thr791=)
n.421-50426G>T
12g.6044360C=CA2013884562VWFc.2373G= (p.Thr791=)
n.421-50426G=
12g.6044360C>GCA478103331VWFc.2373G>C (p.Thr791=)
n.421-50426G>C
12g.6044360C>TCA478103332VWFc.2373G>A (p.Thr791=)
n.421-50426G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6044361G>ACA114135VWFc.2372C>T (p.Thr791Met)
n.421-50427C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6044361G>CCA383522135VWFc.2372C>G (p.Thr791Arg)
n.421-50427C>G
12g.6044361G=CA2013884563VWFc.2372C= (p.Thr791=)
n.421-50427C=
12g.6044361G>TCA383522137VWFc.2372C>A (p.Thr791Lys)
n.421-50427C>A
12g.6044362T>ACA383522139VWFc.2371A>T (p.Thr791Ser)
n.421-50428A>T
12g.6044362T>CCA6403089VWFc.2371A>G (p.Thr791Ala)
n.421-50428A>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6044362T>GCA383522141VWFc.2371A>C (p.Thr791Pro)
n.421-50428A>C
12g.6044362T=CA2013884564VWFc.2371A= (p.Thr791=)
n.421-50428A=
12g.6044363T>ACA383522144VWFc.2370A>T (p.Lys790Asn)
n.421-50429A>T
12g.6044363T>CCA478103334VWFc.2370A>G (p.Lys790=)
n.421-50429A>G
12g.6044363T>GCA383522145VWFc.2370A>C (p.Lys790Asn)
n.421-50429A>C
ClinVar dbSNP
12g.6044363T=CA2013884565VWFc.2370A= (p.Lys790=)
n.421-50429A=
12g.6044364T>ACA383522147VWFc.2369A>T (p.Lys790Ile)
n.421-50430A>T
12g.6044364T>CCA383522149VWFc.2369A>G (p.Lys790Arg)
n.421-50430A>G
gnomAD v4
12g.6044364T>GCA383522151VWFc.2369A>C (p.Lys790Thr)
n.421-50430A>C
12g.6044365T>ACA383522157VWFc.2368A>T (p.Lys790Ter)
n.421-50431A>T
12g.6044365T>CCA383522155VWFc.2368A>G (p.Lys790Glu)
n.421-50431A>G
12g.6044365T>GCA383522153VWFc.2368A>C (p.Lys790Gln)
n.421-50431A>C
12g.6044366G>ACA478103337VWFc.2367C>T (p.Thr789=)
n.421-50432C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6044366G>CCA478103335VWFc.2367C>G (p.Thr789=)
n.421-50432C>G
12g.6044366G=CA2013884566VWFc.2367C= (p.Thr789=)
n.421-50432C=
12g.6044366G>TCA478103336VWFc.2367C>A (p.Thr789=)
n.421-50432C>A
12g.6044367G>ACA383522159VWFc.2366C>T (p.Thr789Ile)
n.421-50433C>T
12g.6044367G>CCA383522161VWFc.2366C>G (p.Thr789Ser)
n.421-50433C>G
12g.6044367G>TCA383522162VWFc.2366C>A (p.Thr789Asn)
n.421-50433C>A
12g.6044368T>ACA383522165VWFc.2365A>T (p.Thr789Ser)
n.421-50434A>T
12g.6044368T>CCA6403090VWFc.2365A>G (p.Thr789Ala)
n.421-50434A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044368T>GCA228336VWFc.2365A>C (p.Thr789Pro)
n.421-50434A>C
ClinVar dbSNP
12g.6044368T=CA1630855467VWFc.2365A= (p.Thr789=)
n.421-50434A=
12g.6044369A>CCA383522169VWFc.2364T>G (p.Cys788Trp)
n.421-50435T>G
12g.6044369A>GCA478103339VWFc.2364T>C (p.Cys788=)
n.421-50435T>C
12g.6044369A>TCA383522171VWFc.2364T>A (p.Cys788Ter)
n.421-50435T>A
12g.6044370C>ACA383522173VWFc.2363G>T (p.Cys788Phe)
n.421-50436G>T
dbSNP
12g.6044370C=CA2013884567VWFc.2363G= (p.Cys788=)
n.421-50436G=
12g.6044370C>GCA383522175VWFc.2363G>C (p.Cys788Ser)
n.421-50436G>C
12g.6044370C>TCA228334VWFc.2363G>A (p.Cys788Tyr)
n.421-50436G>A
ClinVar dbSNP gnomAD v4
12g.6044371A=CA2013884568VWFc.2362T= (p.Cys788=)
n.421-50437T=
12g.6044371A>CCA383522188VWFc.2362T>G (p.Cys788Gly)
n.421-50437T>G
12g.6044371A>GCA228332VWFc.2362T>C (p.Cys788Arg)
n.421-50437T>C
ClinVar dbSNP
12g.6044371A>TCA383522180VWFc.2362T>A (p.Cys788Ser)
n.421-50437T>A
12g.6044372C>ACA383522192VWFc.2361G>T (p.Glu787Asp)
n.421-50438G>T
12g.6044372C=CA2013884569VWFc.2361G= (p.Glu787=)
n.421-50438G=
12g.6044372C>GCA383522195VWFc.2361G>C (p.Glu787Asp)
n.421-50438G>C
12g.6044372C>TCA478103340VWFc.2361G>A (p.Glu787=)
n.421-50438G>A
dbSNP
12g.6044373T>ACA383522197VWFc.2360A>T (p.Glu787Val)
n.421-50439A>T
12g.6044373T>CCA383522199VWFc.2360A>G (p.Glu787Gly)
n.421-50439A>G
dbSNP gnomAD v4
12g.6044373T>GCA383522201VWFc.2360A>C (p.Glu787Ala)
n.421-50439A>C
12g.6044373T=CA2013884570VWFc.2360A= (p.Glu787=)
n.421-50439A=
12g.6044374C>ACA383522205VWFc.2359G>T (p.Glu787Ter)
n.421-50440G>T
gnomAD v4
12g.6044374C=CA2013884571VWFc.2359G= (p.Glu787=)
n.421-50440G=
12g.6044374C>GCA383522209VWFc.2359G>C (p.Glu787Gln)
n.421-50440G>C
gnomAD v4
12g.6044374C>TCA228330VWFc.2359G>A (p.Glu787Lys)
n.421-50440G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.6044375G>ACA478103343VWFc.2358C>T (p.Leu786=)
n.421-50441C>T
dbSNP gnomAD v3 gnomAD v4
12g.6044375G>CCA6403091VWFc.2358C>G (p.Leu786=)
n.421-50441C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044375G=CA2013884572VWFc.2358C= (p.Leu786=)
n.421-50441C=
12g.6044375G>TCA478103344VWFc.2358C>A (p.Leu786=)
n.421-50441C>A
gnomAD v4
12g.6044376A>CCA383522216VWFc.2357T>G (p.Leu786Arg)
n.421-50442T>G
12g.6044376A>GCA383522219VWFc.2357T>C (p.Leu786Pro)
n.421-50442T>C
12g.6044376A>TCA383522222VWFc.2357T>A (p.Leu786His)
n.421-50442T>A
12g.6044377G>ACA383522229VWFc.2356C>T (p.Leu786Phe)
n.421-50443C>T
gnomAD v4
12g.6044377G>CCA383522233VWFc.2356C>G (p.Leu786Val)
n.421-50443C>G
12g.6044377G>TCA383522226VWFc.2356C>A (p.Leu786Ile)
n.421-50443C>A
12g.6044378C>ACA478103345VWFc.2355G>T (p.Gly785=)
n.421-50444G>T
dbSNP gnomAD v4
12g.6044378C=CA2013884573VWFc.2355G= (p.Gly785=)
n.421-50444G=
12g.6044378C>GCA478103347VWFc.2355G>C (p.Gly785=)
n.421-50444G>C
12g.6044378C>TCA478103346VWFc.2355G>A (p.Gly785=)
n.421-50444G>A
12g.6044379C>ACA383522245VWFc.2354G>T (p.Gly785Val)
n.421-50445G>T
12g.6044379C=CA2013884574VWFc.2354G= (p.Gly785=)
n.421-50445G=
12g.6044379C>GCA383522239VWFc.2354G>C (p.Gly785Ala)
n.421-50445G>C
gnomAD v4
12g.6044379C>TCA228328VWFc.2354G>A (p.Gly785Glu)
n.421-50445G>A
ClinVar dbSNP
12g.6044380C>ACA383522248VWFc.2353G>T (p.Gly785Trp)
n.421-50446G>T
12g.6044380C>GCA383522251VWFc.2353G>C (p.Gly785Arg)
n.421-50446G>C
12g.6044380C>TCA383522253VWFc.2353G>A (p.Gly785Arg)
n.421-50446G>A
12g.6044381T>ACA383522257VWFc.2352A>T (p.Glu784Asp)
n.421-50447A>T
12g.6044381T>CCA478103348VWFc.2352A>G (p.Glu784=)
n.421-50447A>G
12g.6044381T>GCA383522260VWFc.2352A>C (p.Glu784Asp)
n.421-50447A>C
12g.6044382T>ACA383522263VWFc.2351A>T (p.Glu784Val)
n.421-50448A>T
12g.6044382T>CCA383522265VWFc.2351A>G (p.Glu784Gly)
n.421-50448A>G
12g.6044382T>GCA383522268VWFc.2351A>C (p.Glu784Ala)
n.421-50448A>C
12g.6044383C>ACA383522271VWFc.2350G>T (p.Glu784Ter)
n.421-50449G>T
12g.6044383C=CA2013884575VWFc.2350G= (p.Glu784=)
n.421-50449G=
12g.6044383C>GCA383522274VWFc.2350G>C (p.Glu784Gln)
n.421-50449G>C
12g.6044383C>TCA383522277VWFc.2350G>A (p.Glu784Lys)
n.421-50449G>A
dbSNP gnomAD v2 gnomAD v4
12g.6044384A>CCA478103352VWFc.2349T>G (p.Ala783=)
n.421-50450T>G
12g.6044384A>GCA478103353VWFc.2349T>C (p.Ala783=)
n.421-50450T>C
12g.6044384A>TCA478103354VWFc.2349T>A (p.Ala783=)
n.421-50450T>A
12g.6044385G>ACA383522287VWFc.2348C>T (p.Ala783Val)
n.421-50451C>T
gnomAD v4
12g.6044385G>CCA383522281VWFc.2348C>G (p.Ala783Gly)
n.421-50451C>G
12g.6044385G>TCA383522285VWFc.2348C>A (p.Ala783Asp)
n.421-50451C>A
12g.6044386C>ACA383522291VWFc.2347G>T (p.Ala783Ser)
n.421-50452G>T
12g.6044386C>GCA383522294VWFc.2347G>C (p.Ala783Pro)
n.421-50452G>C
12g.6044386C>TCA383522297VWFc.2347G>A (p.Ala783Thr)
n.421-50452G>A
12g.6044387C>ACA478103359VWFc.2346G>T (p.Arg782=)
n.421-50453G>T
12g.6044387C>GCA478103357VWFc.2346G>C (p.Arg782=)
n.421-50453G>C
12g.6044387C>TCA478103358VWFc.2346G>A (p.Arg782=)
n.421-50453G>A
12g.6044388C>ACA383522299VWFc.2345G>T (p.Arg782Leu)
n.421-50454G>T
12g.6044388C=CA2013884576VWFc.2345G= (p.Arg782=)
n.421-50454G=
12g.6044388C>GCA6403092VWFc.2345G>C (p.Arg782Pro)
n.421-50454G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044388C>TCA228326VWFc.2345G>A (p.Arg782Gln)
n.421-50454G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044389G>ACA228324VWFc.2344C>T (p.Arg782Trp)
n.421-50455C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044389G>CCA383522309VWFc.2344C>G (p.Arg782Gly)
n.421-50455C>G
12g.6044389G=CA2013884577VWFc.2344C= (p.Arg782=)
n.421-50455C=
12g.6044389G>TCA478103361VWFc.2344C>A (p.Arg782=)
n.421-50455C>A
dbSNP gnomAD v2 gnomAD v4
12g.6044390C>ACA478103363VWFc.2343G>T (p.Leu781=)
n.421-50456G>T
COSMIC
12g.6044390C>GCA478103365VWFc.2343G>C (p.Leu781=)
n.421-50456G>C
12g.6044390C>TCA478103366VWFc.2343G>A (p.Leu781=)
n.421-50456G>A
gnomAD v4
12g.6044391A>CCA383522313VWFc.2342T>G (p.Leu781Arg)
n.421-50457T>G
12g.6044391A>GCA383522315VWFc.2342T>C (p.Leu781Pro)
n.421-50457T>C
12g.6044391A>TCA383522316VWFc.2342T>A (p.Leu781Gln)
n.421-50457T>A
12g.6044392G>ACA6403093VWFc.2341C>T (p.Leu781=)
n.421-50458C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044392G>CCA383522318VWFc.2341C>G (p.Leu781Val)
n.421-50458C>G
ClinVar gnomAD v4
12g.6044392G=CA2013884578VWFc.2341C= (p.Leu781=)
n.421-50458C=
12g.6044392G>TCA383522317VWFc.2341C>A (p.Leu781Met)
n.421-50458C>A
12g.6044393G>ACA478103367VWFc.2340C>T (p.Asn780=)
n.421-50459C>T
12g.6044393G>CCA6403094VWFc.2340C>G (p.Asn780Lys)
n.421-50459C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044393G=CA2013884579VWFc.2340C= (p.Asn780=)
n.421-50459C=
12g.6044393G>TCA383522320VWFc.2340C>A (p.Asn780Lys)
n.421-50459C>A
12g.6044394T>ACA383522323VWFc.2339A>T (p.Asn780Ile)
n.421-50460A>T
12g.6044394T>CCA232300403VWFc.2339A>G (p.Asn780Ser)
n.421-50460A>G
dbSNP gnomAD v4
12g.6044394T>GCA383522326VWFc.2339A>C (p.Asn780Thr)
n.421-50460A>C
dbSNP gnomAD v4
12g.6044394T=CA2013884580VWFc.2339A= (p.Asn780=)
n.421-50460A=
12g.6044395T>ACA383522330VWFc.2338A>T (p.Asn780Tyr)
n.421-50461A>T
12g.6044395T>CCA383522333VWFc.2338A>G (p.Asn780Asp)
n.421-50461A>G
12g.6044395T>GCA383522335VWFc.2338A>C (p.Asn780His)
n.421-50461A>C
12g.6044396G>ACA478103369VWFc.2337C>T (p.Asp779=)
n.421-50462C>T
12g.6044396G>CCA383522338VWFc.2337C>G (p.Asp779Glu)
n.421-50462C>G
12g.6044396G>TCA383522341VWFc.2337C>A (p.Asp779Glu)
n.421-50462C>A
12g.6044397T>ACA383522343VWFc.2336A>T (p.Asp779Val)
n.421-50463A>T
12g.6044397T>CCA6403095VWFc.2336A>G (p.Asp779Gly)
n.421-50463A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044397T>GCA383522345VWFc.2336A>C (p.Asp779Ala)
n.421-50463A>C
12g.6044397T=CA2013884581VWFc.2336A= (p.Asp779=)
n.421-50463A=
12g.6044398C>ACA383522354VWFc.2335G>T (p.Asp779Tyr)
n.421-50464G>T
12g.6044398C>GCA383522348VWFc.2335G>C (p.Asp779His)
n.421-50464G>C
12g.6044398C>TCA383522351VWFc.2335G>A (p.Asp779Asn)
n.421-50464G>A
12g.6044399A>CCA478103371VWFc.2334T>G (p.Ala778=)
n.421-50465T>G
12g.6044399A>GCA478103372VWFc.2334T>C (p.Ala778=)
n.421-50465T>C
12g.6044399A>TCA478103373VWFc.2334T>A (p.Ala778=)
n.421-50465T>A
12g.6044400G>ACA383522357VWFc.2333C>T (p.Ala778Val)
n.421-50466C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6044400G>CCA383522358VWFc.2333C>G (p.Ala778Gly)
n.421-50466C>G
12g.6044400G=CA2013884582VWFc.2333C= (p.Ala778=)
n.421-50466C=
12g.6044400G>TCA383522361VWFc.2333C>A (p.Ala778Asp)
n.421-50466C>A
12g.6044401C>ACA383522363VWFc.2332G>T (p.Ala778Ser)
n.421-50467G>T
dbSNP gnomAD v2 gnomAD v4
12g.6044401C=CA2013884583VWFc.2332G= (p.Ala778=)
n.421-50467G=
12g.6044401C>GCA383522366VWFc.2332G>C (p.Ala778Pro)
n.421-50467G>C
12g.6044401C>TCA6403096VWFc.2332G>A (p.Ala778Thr)
n.421-50467G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044402G>ACA6403097VWFc.2331C>T (p.Pro777=)
n.421-50468C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6044402G>CCA478103374VWFc.2331C>G (p.Pro777=)
n.421-50468C>G
12g.6044402G=CA2013884584VWFc.2331C= (p.Pro777=)
n.421-50468C=
12g.6044402G>TCA478103375VWFc.2331C>A (p.Pro777=)
n.421-50468C>A
12g.6044403G>ACA383522371VWFc.2330C>T (p.Pro777Leu)
n.421-50469C>T
12g.6044403G>CCA383522374VWFc.2330C>G (p.Pro777Arg)
n.421-50469C>G
12g.6044403G>TCA383522378VWFc.2330C>A (p.Pro777His)
n.421-50469C>A
12g.6044404G>ACA383522382VWFc.2329C>T (p.Pro777Ser)
n.421-50470C>T
12g.6044404G>CCA383522385VWFc.2329C>G (p.Pro777Ala)
n.421-50470C>G
12g.6044404G>TCA383522388VWFc.2329C>A (p.Pro777Thr)
n.421-50470C>A

Number of alleles fetched