Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.6016108_6016119delCA2617229105VWFc.5430_5441del (p.Ala1811_Ala1814del)
n.421-22180_421-22169del
gnomAD v4
12g.6016106T>ACA383494930VWFc.5438A>T (p.Asp1813Val)
n.421-22172A>T
12g.6016106T>CCA383494933VWFc.5438A>G (p.Asp1813Gly)
n.421-22172A>G
dbSNP
12g.6016106T>GCA383494936VWFc.5438A>C (p.Asp1813Ala)
n.421-22172A>C
gnomAD v4
12g.6016106T=CA2013871462VWFc.5438A= (p.Asp1813=)
n.421-22172A=
12g.6016107C>ACA383494938VWFc.5437G>T (p.Asp1813Tyr)
n.421-22173G>T
COSMIC
12g.6016107C>GCA383494939VWFc.5437G>C (p.Asp1813His)
n.421-22173G>C
12g.6016107C>TCA383494940VWFc.5437G>A (p.Asp1813Asn)
n.421-22173G>A
dbSNP
12g.6016108A>CCA478100649VWFc.5436T>G (p.Ala1812=)
n.421-22174T>G
12g.6016108A>GCA478100650VWFc.5436T>C (p.Ala1812=)
n.421-22174T>C
12g.6016108A>TCA478100651VWFc.5436T>A (p.Ala1812=)
n.421-22174T>A
12g.6016109G>ACA383494941VWFc.5435C>T (p.Ala1812Val)
n.421-22175C>T
12g.6016109G>CCA383494944VWFc.5435C>G (p.Ala1812Gly)
n.421-22175C>G
12g.6016109G>TCA383494947VWFc.5435C>A (p.Ala1812Asp)
n.421-22175C>A
12g.6016110C>ACA383494948VWFc.5434G>T (p.Ala1812Ser)
n.421-22176G>T
12g.6016110C>GCA383494949VWFc.5434G>C (p.Ala1812Pro)
n.421-22176G>C
12g.6016110C>TCA383494952VWFc.5434G>A (p.Ala1812Thr)
n.421-22176G>A
COSMIC
12g.6016111T>ACA478100654VWFc.5433A>T (p.Ala1811=)
n.421-22177A>T
dbSNP gnomAD v2 gnomAD v4
12g.6016111T>CCA478100653VWFc.5433A>G (p.Ala1811=)
n.421-22177A>G
gnomAD v4
12g.6016111T>GCA478100652VWFc.5433A>C (p.Ala1811=)
n.421-22177A>C
12g.6016111T=CA2013871463VWFc.5433A= (p.Ala1811=)
n.421-22177A=
12g.6016112G>ACA383494964VWFc.5432C>T (p.Ala1811Val)
n.421-22178C>T
dbSNP gnomAD v4
12g.6016112G>CCA383494956VWFc.5432C>G (p.Ala1811Gly)
n.421-22178C>G
dbSNP
12g.6016112G=CA2013871464VWFc.5432C= (p.Ala1811=)
n.421-22178C=
12g.6016112G>TCA383494957VWFc.5432C>A (p.Ala1811Glu)
n.421-22178C>A
12g.6016113C>ACA383494970VWFc.5431G>T (p.Ala1811Ser)
n.421-22179G>T
12g.6016113C>GCA383494979VWFc.5431G>C (p.Ala1811Pro)
n.421-22179G>C
12g.6016113C>TCA383494982VWFc.5431G>A (p.Ala1811Thr)
n.421-22179G>A
gnomAD v4
12g.6016114T>ACA478100655VWFc.5430A>T (p.Ala1810=)
n.421-22180A>T
12g.6016114T>CCA478100656VWFc.5430A>G (p.Ala1810=)
n.421-22180A>G
12g.6016114T>GCA478100657VWFc.5430A>C (p.Ala1810=)
n.421-22180A>C
12g.6016115G>ACA383494986VWFc.5429C>T (p.Ala1810Val)
n.421-22181C>T
gnomAD v4
12g.6016115G>CCA383494988VWFc.5429C>G (p.Ala1810Gly)
n.421-22181C>G
12g.6016115G>TCA383494992VWFc.5429C>A (p.Ala1810Glu)
n.421-22181C>A
ClinVar dbSNP
12g.6016116C>ACA383494997VWFc.5428G>T (p.Ala1810Ser)
n.421-22182G>T
12g.6016116C>GCA383495000VWFc.5428G>C (p.Ala1810Pro)
n.421-22182G>C
12g.6016116C>TCA383495001VWFc.5428G>A (p.Ala1810Thr)
n.421-22182G>A
12g.6016117A=CA2013871465VWFc.5427T= (p.Asp1809=)
n.421-22183T=
12g.6016117A>CCA383495002VWFc.5427T>G (p.Asp1809Glu)
n.421-22183T>G
12g.6016117A>GCA232293856VWFc.5427T>C (p.Asp1809=)
n.421-22183T>C
dbSNP
12g.6016117A>TCA383495004VWFc.5427T>A (p.Asp1809Glu)
n.421-22183T>A
12g.6016118T>ACA383495012VWFc.5426A>T (p.Asp1809Val)
n.421-22184A>T
gnomAD v4
12g.6016118T>CCA383495017VWFc.5426A>G (p.Asp1809Gly)
n.421-22184A>G
ClinVar
12g.6016118T>GCA383495007VWFc.5426A>C (p.Asp1809Ala)
n.421-22184A>C
12g.6016119C>ACA383495020VWFc.5425G>T (p.Asp1809Tyr)
n.421-22185G>T
12g.6016119C>GCA383495022VWFc.5425G>C (p.Asp1809His)
n.421-22185G>C
12g.6016119C>TCA383495025VWFc.5425G>A (p.Asp1809Asn)
n.421-22185G>A
12g.6016120C>ACA478100658VWFc.5424G>T (p.Val1808=)
n.421-22186G>T
gnomAD v4
12g.6016120C=CA2013871466VWFc.5424G= (p.Val1808=)
n.421-22186G=
12g.6016120C>GCA478100659VWFc.5424G>C (p.Val1808=)
n.421-22186G>C
12g.6016120C>TCA478100660VWFc.5424G>A (p.Val1808=)
n.421-22186G>A
dbSNP gnomAD v4
12g.6016121A>CCA383495028VWFc.5423T>G (p.Val1808Gly)
n.421-22187T>G
12g.6016121A>GCA383495031VWFc.5423T>C (p.Val1808Ala)
n.421-22187T>C
12g.6016121A>TCA383495035VWFc.5423T>A (p.Val1808Glu)
n.421-22187T>A
12g.6016122C>ACA383495039VWFc.5422G>T (p.Val1808Leu)
n.421-22188G>T
12g.6016122C=CA2013871467VWFc.5422G= (p.Val1808=)
n.421-22188G=
12g.6016122C>GCA383495042VWFc.5422G>C (p.Val1808Leu)
n.421-22188G>C
12g.6016122C>TCA383495046VWFc.5422G>A (p.Val1808Met)
n.421-22188G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6016123T>ACA478100663VWFc.5421A>T (p.Ser1807=)
n.421-22189A>T
12g.6016123T>CCA478100661VWFc.5421A>G (p.Ser1807=)
n.421-22189A>G
gnomAD v4
12g.6016123T>GCA478100662VWFc.5421A>C (p.Ser1807=)
n.421-22189A>C
12g.6016124G>ACA383495052VWFc.5420C>T (p.Ser1807Leu)
n.421-22190C>T
dbSNP gnomAD v4
12g.6016124G>CCA383495054VWFc.5420C>G (p.Ser1807Ter)
n.421-22190C>G
12g.6016124G=CA2013871468VWFc.5420C= (p.Ser1807=)
n.421-22190C=
12g.6016124G>TCA383495060VWFc.5420C>A (p.Ser1807Ter)
n.421-22190C>A
12g.6016125A>CCA383495068VWFc.5419T>G (p.Ser1807Ala)
n.421-22191T>G
12g.6016125A>GCA383495071VWFc.5419T>C (p.Ser1807Pro)
n.421-22191T>C
12g.6016125A>TCA383495065VWFc.5419T>A (p.Ser1807Thr)
n.421-22191T>A
12g.6016126A>CCA383495074VWFc.5418T>G (p.Asp1806Glu)
n.421-22192T>G
12g.6016126A>GCA478100664VWFc.5418T>C (p.Asp1806=)
n.421-22192T>C
gnomAD v4
12g.6016126A>TCA383495077VWFc.5418T>A (p.Asp1806Glu)
n.421-22192T>A
12g.6016127T>ACA383495080VWFc.5417A>T (p.Asp1806Val)
n.421-22193A>T
gnomAD v4
12g.6016127T>CCA383495084VWFc.5417A>G (p.Asp1806Gly)
n.421-22193A>G
gnomAD v4
12g.6016127T>GCA383495087VWFc.5417A>C (p.Asp1806Ala)
n.421-22193A>C
12g.6016128C>ACA383495099VWFc.5416G>T (p.Asp1806Tyr)
n.421-22194G>T
12g.6016128C>GCA383495097VWFc.5416G>C (p.Asp1806His)
n.421-22194G>C
12g.6016128C>TCA383495092VWFc.5416G>A (p.Asp1806Asn)
n.421-22194G>A
12g.6016129C>ACA478100665VWFc.5415G>T (p.Val1805=)
n.421-22195G>T
dbSNP gnomAD v2 gnomAD v4
12g.6016129C=CA2013871469VWFc.5415G= (p.Val1805=)
n.421-22195G=
12g.6016129C>GCA478100666VWFc.5415G>C (p.Val1805=)
n.421-22195G>C
12g.6016129C>TCA478100667VWFc.5415G>A (p.Val1805=)
n.421-22195G>A
12g.6016131_6016132delCA2695216018VWFc.5414_5415del (p.Val1805GlyfsTer8)
n.421-22196_421-22195del
12g.6016130A>CCA383495102VWFc.5414T>G (p.Val1805Gly)
n.421-22196T>G
12g.6016130A>GCA383495104VWFc.5414T>C (p.Val1805Ala)
n.421-22196T>C
gnomAD v4
12g.6016130A>TCA383495108VWFc.5414T>A (p.Val1805Glu)
n.421-22196T>A
12g.6016131C>ACA383495114VWFc.5413G>T (p.Val1805Leu)
n.421-22197G>T
12g.6016131C=CA2013871470VWFc.5413G= (p.Val1805=)
n.421-22197G=
12g.6016131C>GCA383495118VWFc.5413G>C (p.Val1805Leu)
n.421-22197G>C
12g.6016131C>TCA6402279VWFc.5413G>A (p.Val1805Met)
n.421-22197G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6016132A>CCA478100668VWFc.5412T>G (p.Ser1804=)
n.421-22198T>G
12g.6016132A>GCA478100669VWFc.5412T>C (p.Ser1804=)
n.421-22198T>C
12g.6016132A>TCA478100670VWFc.5412T>A (p.Ser1804=)
n.421-22198T>A
12g.6016133G>ACA383495125VWFc.5411C>T (p.Ser1804Phe)
n.421-22199C>T
12g.6016133G>CCA383495133VWFc.5411C>G (p.Ser1804Cys)
n.421-22199C>G
gnomAD v4
12g.6016133G>TCA383495128VWFc.5411C>A (p.Ser1804Tyr)
n.421-22199C>A
12g.6016134A>CCA383495136VWFc.5410T>G (p.Ser1804Ala)
n.421-22200T>G
12g.6016134A>GCA383495142VWFc.5410T>C (p.Ser1804Pro)
n.421-22200T>C
12g.6016134A>TCA383495139VWFc.5410T>A (p.Ser1804Thr)
n.421-22200T>A
12g.6016135G>ACA478100671VWFc.5409C>T (p.Val1803=)
n.421-22201C>T
dbSNP
12g.6016135G>CCA478100672VWFc.5409C>G (p.Val1803=)
n.421-22201C>G
12g.6016135G=CA2013871471VWFc.5409C= (p.Val1803=)
n.421-22201C=
12g.6016135G>TCA478100673VWFc.5409C>A (p.Val1803=)
n.421-22201C>A
12g.6016136A>CCA383495146VWFc.5408T>G (p.Val1803Gly)
n.421-22202T>G
12g.6016136A>GCA383495161VWFc.5408T>C (p.Val1803Ala)
n.421-22202T>C
12g.6016136A>TCA383495159VWFc.5408T>A (p.Val1803Asp)
n.421-22202T>A
12g.6016137C>ACA383495166VWFc.5407G>T (p.Val1803Phe)
n.421-22203G>T
gnomAD v4
12g.6016137C=CA2013871472VWFc.5407G= (p.Val1803=)
n.421-22203G=
12g.6016137C>GCA383495169VWFc.5407G>C (p.Val1803Leu)
n.421-22203G>C
12g.6016137C>TCA383495172VWFc.5407G>A (p.Val1803Ile)
n.421-22203G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6016138G>ACA243727VWFc.5406C>T (p.Asp1802=)
n.421-22204C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016138G>CCA383495179VWFc.5406C>G (p.Asp1802Glu)
n.421-22204C>G
12g.6016138G=CA2013871473VWFc.5406C= (p.Asp1802=)
n.421-22204C=
12g.6016138G>TCA383495182VWFc.5406C>A (p.Asp1802Glu)
n.421-22204C>A
12g.6016139T>ACA383495185VWFc.5405A>T (p.Asp1802Val)
n.421-22205A>T
12g.6016139T>CCA383495188VWFc.5405A>G (p.Asp1802Gly)
n.421-22205A>G
12g.6016139T>GCA383495190VWFc.5405A>C (p.Asp1802Ala)
n.421-22205A>C
12g.6016140C>ACA383495192VWFc.5404G>T (p.Asp1802Tyr)
n.421-22206G>T
12g.6016140C>GCA383495196VWFc.5404G>C (p.Asp1802His)
n.421-22206G>C
12g.6016140C>TCA383495199VWFc.5404G>A (p.Asp1802Asn)
n.421-22206G>A
12g.6016141C>ACA478100674VWFc.5403G>T (p.Thr1801=)
n.421-22207G>T
12g.6016141C=CA2013871474VWFc.5403G= (p.Thr1801=)
n.421-22207G=
12g.6016141C>GCA478100675VWFc.5403G>C (p.Thr1801=)
n.421-22207G>C
12g.6016141C>TCA6402280VWFc.5403G>A (p.Thr1801=)
n.421-22207G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016142G>ACA6402281VWFc.5402C>T (p.Thr1801Met)
n.421-22208C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.6016142G>CCA383495211VWFc.5402C>G (p.Thr1801Arg)
n.421-22208C>G
12g.6016142G=CA2013871475VWFc.5402C= (p.Thr1801=)
n.421-22208C=
12g.6016142G>TCA383495207VWFc.5402C>A (p.Thr1801Lys)
n.421-22208C>A
12g.6016143T>ACA383495213VWFc.5401A>T (p.Thr1801Ser)
n.421-22209A>T
12g.6016143T>CCA383495216VWFc.5401A>G (p.Thr1801Ala)
n.421-22209A>G
12g.6016143T>GCA383495219VWFc.5401A>C (p.Thr1801Pro)
n.421-22209A>C
12g.6016144G>ACA478100677VWFc.5400C>T (p.Val1800=)
n.421-22210C>T
gnomAD v4
12g.6016144G>CCA478100679VWFc.5400C>G (p.Val1800=)
n.421-22210C>G
12g.6016144G>TCA478100678VWFc.5400C>A (p.Val1800=)
n.421-22210C>A
12g.6016145A>CCA383495224VWFc.5399T>G (p.Val1800Gly)
n.421-22211T>G
12g.6016145A>GCA383495228VWFc.5399T>C (p.Val1800Ala)
n.421-22211T>C
gnomAD v4
12g.6016145A>TCA383495230VWFc.5399T>A (p.Val1800Asp)
n.421-22211T>A
12g.6016146C>ACA383495234VWFc.5398G>T (p.Val1800Phe)
n.421-22212G>T
12g.6016146C=CA2013871476VWFc.5398G= (p.Val1800=)
n.421-22212G=
12g.6016146C>GCA383495237VWFc.5398G>C (p.Val1800Leu)
n.421-22212G>C
12g.6016146C>TCA383495240VWFc.5398G>A (p.Val1800Ile)
n.421-22212G>A
dbSNP
12g.6016147C>ACA478100681VWFc.5397G>T (p.Leu1799=)
n.421-22213G>T
12g.6016147C>GCA478100682VWFc.5397G>C (p.Leu1799=)
n.421-22213G>C
12g.6016147C>TCA478100683VWFc.5397G>A (p.Leu1799=)
n.421-22213G>A
12g.6016148A>CCA383495251VWFc.5396T>G (p.Leu1799Arg)
n.421-22214T>G
12g.6016148A>GCA383495247VWFc.5396T>C (p.Leu1799Pro)
n.421-22214T>C
12g.6016148A>TCA383495245VWFc.5396T>A (p.Leu1799Gln)
n.421-22214T>A
12g.6016149G>ACA478100684VWFc.5395C>T (p.Leu1799=)
n.421-22215C>T
COSMIC
12g.6016149G>CCA383495253VWFc.5395C>G (p.Leu1799Val)
n.421-22215C>G
gnomAD v4
12g.6016149G>TCA383495256VWFc.5395C>A (p.Leu1799Met)
n.421-22215C>A
gnomAD v4
12g.6016150G>ACA6402282VWFc.5394C>T (p.Ile1798=)
n.421-22216C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.6016150G>CCA383495261VWFc.5394C>G (p.Ile1798Met)
n.421-22216C>G
12g.6016150G=CA2013871477VWFc.5394C= (p.Ile1798=)
n.421-22216C=
12g.6016150G>TCA478100687VWFc.5394C>A (p.Ile1798=)
n.421-22216C>A
12g.6016151A>CCA383495264VWFc.5393T>G (p.Ile1798Ser)
n.421-22217T>G
12g.6016151A>GCA383495267VWFc.5393T>C (p.Ile1798Thr)
n.421-22217T>C
gnomAD v4
12g.6016151A>TCA383495270VWFc.5393T>A (p.Ile1798Asn)
n.421-22217T>A
12g.6016152T>ACA383495273VWFc.5392A>T (p.Ile1798Phe)
n.421-22218A>T
12g.6016152T>CCA383495276VWFc.5392A>G (p.Ile1798Val)
n.421-22218A>G
12g.6016152T>GCA383495279VWFc.5392A>C (p.Ile1798Leu)
n.421-22218A>C
12g.6016153G>ACA478100689VWFc.5391C>T (p.Val1797=)
n.421-22219C>T
12g.6016153G>CCA478100690VWFc.5391C>G (p.Val1797=)
n.421-22219C>G
12g.6016153G>TCA478100691VWFc.5391C>A (p.Val1797=)
n.421-22219C>A
COSMIC
12g.6016154A>CCA383495282VWFc.5390T>G (p.Val1797Gly)
n.421-22220T>G
12g.6016154A>GCA383495285VWFc.5390T>C (p.Val1797Ala)
n.421-22220T>C
12g.6016154A>TCA383495288VWFc.5390T>A (p.Val1797Asp)
n.421-22220T>A
12g.6016155C>ACA383495296VWFc.5389G>T (p.Val1797Phe)
n.421-22221G>T
12g.6016155C=CA2013871478VWFc.5389G= (p.Val1797=)
n.421-22221G=
12g.6016155C>GCA383495291VWFc.5389G>C (p.Val1797Leu)
n.421-22221G>C
12g.6016155C>TCA232293873VWFc.5389G>A (p.Val1797Ile)
n.421-22221G>A
ClinVar dbSNP gnomAD v4
12g.6016156C>ACA478100694VWFc.5388G>T (p.Val1796=)
n.421-22222G>T
gnomAD v4
12g.6016156C=CA2013871479VWFc.5388G= (p.Val1796=)
n.421-22222G=
12g.6016156C>GCA478100697VWFc.5388G>C (p.Val1796=)
n.421-22222G>C
12g.6016156C>TCA478100696VWFc.5388G>A (p.Val1796=)
n.421-22222G>A
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.6016157A=CA2013871480VWFc.5387T= (p.Val1796=)
n.421-22223T=
12g.6016157A>CCA383495300VWFc.5387T>G (p.Val1796Gly)
n.421-22223T>G
12g.6016157A>GCA6402283VWFc.5387T>C (p.Val1796Ala)
n.421-22223T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6016157A>TCA383495306VWFc.5387T>A (p.Val1796Glu)
n.421-22223T>A
12g.6016158C>ACA383495311VWFc.5386G>T (p.Val1796Leu)
n.421-22224G>T
12g.6016158C=CA2013871481VWFc.5386G= (p.Val1796=)
n.421-22224G=
12g.6016158C>GCA383495314VWFc.5386G>C (p.Val1796Leu)
n.421-22224G>C
12g.6016158C>TCA383495317VWFc.5386G>A (p.Val1796Met)
n.421-22224G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6016159C>ACA478100698VWFc.5385G>T (p.Ala1795=)
n.421-22225G>T
12g.6016159C=CA2013871482VWFc.5385G= (p.Ala1795=)
n.421-22225G=
12g.6016159C>GCA478100699VWFc.5385G>C (p.Ala1795=)
n.421-22225G>C
12g.6016159C>TCA478100700VWFc.5385G>A (p.Ala1795=)
n.421-22225G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6016160G>ACA6402284VWFc.5384C>T (p.Ala1795Val)
n.421-22226C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016160G>CCA383495323VWFc.5384C>G (p.Ala1795Gly)
n.421-22226C>G
12g.6016160G=CA2013871483VWFc.5384C= (p.Ala1795=)
n.421-22226C=
12g.6016160G>TCA383495328VWFc.5384C>A (p.Ala1795Glu)
n.421-22226C>A
12g.6016161C>ACA383495330VWFc.5383G>T (p.Ala1795Ser)
n.421-22227G>T
12g.6016161C=CA2013871484VWFc.5383G= (p.Ala1795=)
n.421-22227G=
12g.6016161C>GCA383495334VWFc.5383G>C (p.Ala1795Pro)
n.421-22227G>C
12g.6016161C>TCA383495336VWFc.5383G>A (p.Ala1795Thr)
n.421-22227G>A
dbSNP gnomAD v3 gnomAD v4
12g.6016162C>ACA383495339VWFc.5382G>T (p.Lys1794Asn)
n.421-22228G>T
12g.6016162C=CA2013871485VWFc.5382G= (p.Lys1794=)
n.421-22228G=
12g.6016162C>GCA383495342VWFc.5382G>C (p.Lys1794Asn)
n.421-22228G>C
dbSNP gnomAD v2 gnomAD v4
12g.6016162C>TCA478100703VWFc.5382G>A (p.Lys1794=)
n.421-22228G>A
12g.6016163T>ACA383495346VWFc.5381A>T (p.Lys1794Met)
n.421-22229A>T
12g.6016163T>CCA383495354VWFc.5381A>G (p.Lys1794Arg)
n.421-22229A>G
12g.6016163T>GCA383495350VWFc.5381A>C (p.Lys1794Thr)
n.421-22229A>C
12g.6016164T>ACA383495358VWFc.5380A>T (p.Lys1794Ter)
n.421-22230A>T
12g.6016164T>CCA228719VWFc.5380A>G (p.Lys1794Glu)
n.421-22230A>G
ClinVar dbSNP gnomAD v4
12g.6016164T>GCA383495361VWFc.5380A>C (p.Lys1794Gln)
n.421-22230A>C
12g.6016164T=CA2013871486VWFc.5380A= (p.Lys1794=)
n.421-22230A=
12g.6016165T>ACA478100708VWFc.5379A>T (p.Ser1793=)
n.421-22231A>T
12g.6016165T>CCA243725VWFc.5379A>G (p.Ser1793=)
n.421-22231A>G
ClinVar dbSNP
12g.6016165T>GCA478100706VWFc.5379A>C (p.Ser1793=)
n.421-22231A>C
12g.6016165T=CA2013871487VWFc.5379A= (p.Ser1793=)
n.421-22231A=
12g.6016166G>ACA383495370VWFc.5378C>T (p.Ser1793Leu)
n.421-22232C>T
dbSNP gnomAD v3 gnomAD v4
12g.6016166G>CCA383495373VWFc.5378C>G (p.Ser1793Ter)
n.421-22232C>G
12g.6016166G=CA2013871488VWFc.5378C= (p.Ser1793=)
n.421-22232C=
12g.6016166G>TCA383495375VWFc.5378C>A (p.Ser1793Ter)
n.421-22232C>A
12g.6016167A>CCA383495381VWFc.5377T>G (p.Ser1793Ala)
n.421-22233T>G
12g.6016167A>GCA383495383VWFc.5377T>C (p.Ser1793Pro)
n.421-22233T>C
12g.6016167A>TCA383495386VWFc.5377T>A (p.Ser1793Thr)
n.421-22233T>A
12g.6016168G>ACA478100711VWFc.5376C>T (p.Ala1792=)
n.421-22234C>T
12g.6016168G>CCA478100712VWFc.5376C>G (p.Ala1792=)
n.421-22234C>G
dbSNP gnomAD v4
12g.6016168G=CA2013871489VWFc.5376C= (p.Ala1792=)
n.421-22234C=
12g.6016168G>TCA478100713VWFc.5376C>A (p.Ala1792=)
n.421-22234C>A
12g.6016169G>ACA383495389VWFc.5375C>T (p.Ala1792Val)
n.421-22235C>T
gnomAD v4
12g.6016169G>CCA383495392VWFc.5375C>G (p.Ala1792Gly)
n.421-22235C>G
12g.6016169G=CA2013871490VWFc.5375C= (p.Ala1792=)
n.421-22235C=
12g.6016169G>TCA383495394VWFc.5375C>A (p.Ala1792Asp)
n.421-22235C>A
dbSNP gnomAD v2 gnomAD v4
12g.6016170C>ACA383495395VWFc.5374G>T (p.Ala1792Ser)
n.421-22236G>T
12g.6016170C>GCA383495402VWFc.5374G>C (p.Ala1792Pro)
n.421-22236G>C
12g.6016170C>TCA383495399VWFc.5374G>A (p.Ala1792Thr)
n.421-22236G>A
COSMIC
12g.6016171T>ACA478100715VWFc.5373A>T (p.Gly1791=)
n.421-22237A>T
12g.6016171T>CCA478100716VWFc.5373A>G (p.Gly1791=)
n.421-22237A>G
COSMIC
12g.6016171T>GCA478100717VWFc.5373A>C (p.Gly1791=)
n.421-22237A>C
12g.6016172C>ACA383495405VWFc.5372G>T (p.Gly1791Val)
n.421-22238G>T
12g.6016172C=CA2013871491VWFc.5372G= (p.Gly1791=)
n.421-22238G=
12g.6016172C>GCA383495409VWFc.5372G>C (p.Gly1791Ala)
n.421-22238G>C
12g.6016172C>TCA6402285VWFc.5372G>A (p.Gly1791Glu)
n.421-22238G>A
dbSNP ExAC gnomAD v2 gnomAD v4
12g.6016173C>ACA383495417VWFc.5371G>T (p.Gly1791Ter)
n.421-22239G>T
12g.6016173C>GCA383495419VWFc.5371G>C (p.Gly1791Arg)
n.421-22239G>C
12g.6016173C>TCA383495424VWFc.5371G>A (p.Gly1791Arg)
n.421-22239G>A
COSMIC
12g.6016174C>ACA478100718VWFc.5370G>T (p.Pro1790=)
n.421-22240G>T
12g.6016174C=CA2013871492VWFc.5370G= (p.Pro1790=)
n.421-22240G=
12g.6016174C>GCA478100719VWFc.5370G>C (p.Pro1790=)
n.421-22240G>C
12g.6016174C>TCA6402286VWFc.5370G>A (p.Pro1790=)
n.421-22240G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016175G>ACA243723VWFc.5369C>T (p.Pro1790Leu)
n.421-22241C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.6016175G>CCA383495432VWFc.5369C>G (p.Pro1790Arg)
n.421-22241C>G
dbSNP gnomAD v4
12g.6016175G=CA2013871493VWFc.5369C= (p.Pro1790=)
n.421-22241C=
12g.6016175G>TCA383495435VWFc.5369C>A (p.Pro1790Gln)
n.421-22241C>A
12g.6016176G>ACA383495445VWFc.5368C>T (p.Pro1790Ser)
n.421-22242C>T
dbSNP gnomAD v3 gnomAD v4
12g.6016176G>CCA383495442VWFc.5368C>G (p.Pro1790Ala)
n.421-22242C>G
12g.6016176G=CA2013871494VWFc.5368C= (p.Pro1790=)
n.421-22242C=
12g.6016176G>TCA383495440VWFc.5368C>A (p.Pro1790Thr)
n.421-22242C>A
12g.6016177C>ACA383495448VWFc.5367G>T (p.Arg1789Ser)
n.421-22243G>T
12g.6016177C>GCA383495452VWFc.5367G>C (p.Arg1789Ser)
n.421-22243G>C
12g.6016177C>TCA478100725VWFc.5367G>A (p.Arg1789=)
n.421-22243G>A
12g.6016178C>ACA383495455VWFc.5366G>T (p.Arg1789Met)
n.421-22244G>T
12g.6016178C>GCA383495457VWFc.5366G>C (p.Arg1789Thr)
n.421-22244G>C
gnomAD v4
12g.6016178C>TCA383495461VWFc.5366G>A (p.Arg1789Lys)
n.421-22244G>A
12g.6016179T>ACA383495467VWFc.5365A>T (p.Arg1789Trp)
n.421-22245A>T
12g.6016179T>CCA383495470VWFc.5365A>G (p.Arg1789Gly)
n.421-22245A>G
dbSNP gnomAD v3 gnomAD v4
12g.6016179T>GCA478100727VWFc.5365A>C (p.Arg1789=)
n.421-22245A>C
12g.6016179T=CA2013871495VWFc.5365A= (p.Arg1789=)
n.421-22245A=
12g.6016180G>ACA478100728VWFc.5364C>T (p.Ala1788=)
n.421-22246C>T
12g.6016180G>CCA478100729VWFc.5364C>G (p.Ala1788=)
n.421-22246C>G
12g.6016180G>TCA478100730VWFc.5364C>A (p.Ala1788=)
n.421-22246C>A
12g.6016181G>ACA383495473VWFc.5363C>T (p.Ala1788Val)
n.421-22247C>T
gnomAD v4
12g.6016181G>CCA383495474VWFc.5363C>G (p.Ala1788Gly)
n.421-22247C>G
12g.6016181G>TCA383495477VWFc.5363C>A (p.Ala1788Asp)
n.421-22247C>A
12g.6016182C>ACA383495481VWFc.5362G>T (p.Ala1788Ser)
n.421-22248G>T
12g.6016182C>GCA383495484VWFc.5362G>C (p.Ala1788Pro)
n.421-22248G>C
gnomAD v4
12g.6016182C>TCA383495487VWFc.5362G>A (p.Ala1788Thr)
n.421-22248G>A
12g.6016183A>CCA478100732VWFc.5361T>G (p.Gly1787=)
n.421-22249T>G
12g.6016183A>GCA478100733VWFc.5361T>C (p.Gly1787=)
n.421-22249T>C
12g.6016183A>TCA478100734VWFc.5361T>A (p.Gly1787=)
n.421-22249T>A
gnomAD v4
12g.6016184C>ACA383495494VWFc.5360G>T (p.Gly1787Val)
n.421-22250G>T
12g.6016184C>GCA383495489VWFc.5360G>C (p.Gly1787Ala)
n.421-22250G>C
12g.6016184C>TCA383495492VWFc.5360G>A (p.Gly1787Asp)
n.421-22250G>A
12g.6016185C>ACA383495497VWFc.5359G>T (p.Gly1787Cys)
n.421-22251G>T
12g.6016185C=CA2013871496VWFc.5359G= (p.Gly1787=)
n.421-22251G=
12g.6016185C>GCA383495499VWFc.5359G>C (p.Gly1787Arg)
n.421-22251G>C
12g.6016185C>TCA6402287VWFc.5359G>A (p.Gly1787Ser)
n.421-22251G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016186A>CCA383495505VWFc.5358T>G (p.His1786Gln)
n.421-22252T>G
12g.6016186A>GCA478100737VWFc.5358T>C (p.His1786=)
n.421-22252T>C
COSMIC
12g.6016186A>TCA383495507VWFc.5358T>A (p.His1786Gln)
n.421-22252T>A
12g.6016187T>ACA383495510VWFc.5357A>T (p.His1786Leu)
n.421-22253A>T
12g.6016187T>CCA232293887VWFc.5357A>G (p.His1786Arg)
n.421-22253A>G
dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.6016187T>GCA383495515VWFc.5357A>C (p.His1786Pro)
n.421-22253A>C
12g.6016187T=CA2013871497VWFc.5357A= (p.His1786=)
n.421-22253A=
12g.6016188G>ACA383495517VWFc.5356C>T (p.His1786Tyr)
n.421-22254C>T
12g.6016188G>CCA228717VWFc.5356C>G (p.His1786Asp)
n.421-22254C>G
ClinVar dbSNP
12g.6016188G=CA2013871498VWFc.5356C= (p.His1786=)
n.421-22254C=
12g.6016188G>TCA383495523VWFc.5356C>A (p.His1786Asn)
n.421-22254C>A
12g.6016189C>ACA383495526VWFc.5355G>T (p.Met1785Ile)
n.421-22255G>T
12g.6016189C=CA2013871499VWFc.5355G= (p.Met1785=)
n.421-22255G=
12g.6016189C>GCA383495536VWFc.5355G>C (p.Met1785Ile)
n.421-22255G>C
12g.6016189C>TCA383495534VWFc.5355G>A (p.Met1785Ile)
n.421-22255G>A
dbSNP COSMIC
12g.6016190A=CA2013871500VWFc.5354T= (p.Met1785=)
n.421-22256T=
12g.6016190A>CCA383495539VWFc.5354T>G (p.Met1785Arg)
n.421-22256T>G
12g.6016190A>GCA6402288VWFc.5354T>C (p.Met1785Thr)
n.421-22256T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016190A>TCA383495541VWFc.5354T>A (p.Met1785Lys)
n.421-22256T>A
12g.6016191T>ACA383495546VWFc.5353A>T (p.Met1785Leu)
n.421-22257A>T
12g.6016191T>CCA383495552VWFc.5353A>G (p.Met1785Val)
n.421-22257A>G
12g.6016191T>GCA383495549VWFc.5353A>C (p.Met1785Leu)
n.421-22257A>C
12g.6016192T>ACA383495556VWFc.5352A>T (p.Glu1784Asp)
n.421-22258A>T
12g.6016192T>CCA478100739VWFc.5352A>G (p.Glu1784=)
n.421-22258A>G
12g.6016192T>GCA383495559VWFc.5352A>C (p.Glu1784Asp)
n.421-22258A>C
12g.6016193T>ACA383495560VWFc.5351A>T (p.Glu1784Val)
n.421-22259A>T
gnomAD v4
12g.6016193T>CCA383495562VWFc.5351A>G (p.Glu1784Gly)
n.421-22259A>G
12g.6016193T>GCA383495561VWFc.5351A>C (p.Glu1784Ala)
n.421-22259A>C
12g.6016194C>ACA383495565VWFc.5350G>T (p.Glu1784Ter)
n.421-22260G>T
12g.6016194C>GCA383495570VWFc.5350G>C (p.Glu1784Gln)
n.421-22260G>C
12g.6016194C>TCA383495568VWFc.5350G>A (p.Glu1784Lys)
n.421-22260G>A
12g.6016195T>ACA478100744VWFc.5349A>T (p.Ser1783=)
n.421-22261A>T
12g.6016195T>CCA478100745VWFc.5349A>G (p.Ser1783=)
n.421-22261A>G
dbSNP
12g.6016195T>GCA478100746VWFc.5349A>C (p.Ser1783=)
n.421-22261A>C
12g.6016195T=CA2013871501VWFc.5349A= (p.Ser1783=)
n.421-22261A=
12g.6016196G>ACA383495574VWFc.5348C>T (p.Ser1783Leu)
n.421-22262C>T
gnomAD v4
12g.6016196G>CCA383495583VWFc.5348C>G (p.Ser1783Ter)
n.421-22262C>G
12g.6016196G>TCA383495587VWFc.5348C>A (p.Ser1783Ter)
n.421-22262C>A
12g.6016197A=CA2013871502VWFc.5347T= (p.Ser1783=)
n.421-22263T=
12g.6016197A>CCA228715VWFc.5347T>G (p.Ser1783Ala)
n.421-22263T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016197A>GCA383495593VWFc.5347T>C (p.Ser1783Pro)
n.421-22263T>C
12g.6016197A>TCA383495595VWFc.5347T>A (p.Ser1783Thr)
n.421-22263T>A
12g.6016198A>CCA478100747VWFc.5346T>G (p.Thr1782=)
n.421-22264T>G
12g.6016198A>GCA478100751VWFc.5346T>C (p.Thr1782=)
n.421-22264T>C
12g.6016198A>TCA478100748VWFc.5346T>A (p.Thr1782=)
n.421-22264T>A
12g.6016199G>ACA383495598VWFc.5345C>T (p.Thr1782Ile)
n.421-22265C>T
12g.6016199G>CCA383495600VWFc.5345C>G (p.Thr1782Ser)
n.421-22265C>G
12g.6016199G>TCA383495604VWFc.5345C>A (p.Thr1782Asn)
n.421-22265C>A
12g.6016200T>ACA383495608VWFc.5344A>T (p.Thr1782Ser)
n.421-22266A>T
12g.6016200T>CCA383495611VWFc.5344A>G (p.Thr1782Ala)
n.421-22266A>G
gnomAD v4
12g.6016200T>GCA383495614VWFc.5344A>C (p.Thr1782Pro)
n.421-22266A>C
12g.6016201C>ACA383495617VWFc.5343G>T (p.Leu1781Phe)
n.421-22267G>T
12g.6016201C>GCA383495620VWFc.5343G>C (p.Leu1781Phe)
n.421-22267G>C
12g.6016201C>TCA478100753VWFc.5343G>A (p.Leu1781=)
n.421-22267G>A
12g.6016202A=CA2013871503VWFc.5342T= (p.Leu1781=)
n.421-22268T=
12g.6016202A>CCA383495622VWFc.5342T>G (p.Leu1781Trp)
n.421-22268T>G
gnomAD v4
12g.6016202A>GCA383495628VWFc.5342T>C (p.Leu1781Ser)
n.421-22268T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.6016202A>TCA383495631VWFc.5342T>A (p.Leu1781Ter)
n.421-22268T>A
12g.6016203A>CCA383495638VWFc.5341T>G (p.Leu1781Val)
n.421-22269T>G
COSMIC
12g.6016203A>GCA478100755VWFc.5341T>C (p.Leu1781=)
n.421-22269T>C
12g.6016203A>TCA383495640VWFc.5341T>A (p.Leu1781Met)
n.421-22269T>A
12g.6016204G>ACA478100756VWFc.5340C>T (p.Tyr1780=)
n.421-22270C>T
gnomAD v4
12g.6016204G>CCA383495642VWFc.5340C>G (p.Tyr1780Ter)
n.421-22270C>G
12g.6016204G>TCA383495645VWFc.5340C>A (p.Tyr1780Ter)
n.421-22270C>A
12g.6016205T>ACA383495648VWFc.5339A>T (p.Tyr1780Phe)
n.421-22271A>T
12g.6016205T>CCA383495649VWFc.5339A>G (p.Tyr1780Cys)
n.421-22271A>G
12g.6016205T>GCA383495650VWFc.5339A>C (p.Tyr1780Ser)
n.421-22271A>C
12g.6016206A=CA2013871504VWFc.5338T= (p.Tyr1780=)
n.421-22272T=
12g.6016206A>CCA6402289VWFc.5338T>G (p.Tyr1780Asp)
n.421-22272T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.6016206A>GCA243721VWFc.5338T>C (p.Tyr1780His)
n.421-22272T>C
ClinVar dbSNP
12g.6016206A>TCA383495652VWFc.5338T>A (p.Tyr1780Asn)
n.421-22272T>A
ClinVar dbSNP

Number of alleles fetched