Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6016108_6016119del | CA2617229105 | VWF | c.5430_5441del (p.Ala1811_Ala1814del) n.421-22180_421-22169del | gnomAD v4 |
12 | g.6016107C>A | CA383494938 | VWF | c.5437G>T (p.Asp1813Tyr) n.421-22173G>T | COSMIC |
12 | g.6016107C>G | CA383494939 | VWF | c.5437G>C (p.Asp1813His) n.421-22173G>C | |
12 | g.6016107C>T | CA383494940 | VWF | c.5437G>A (p.Asp1813Asn) n.421-22173G>A | dbSNP |
12 | g.6016108A>C | CA478100649 | VWF | c.5436T>G (p.Ala1812=) n.421-22174T>G | |
12 | g.6016108A>G | CA478100650 | VWF | c.5436T>C (p.Ala1812=) n.421-22174T>C | |
12 | g.6016108A>T | CA478100651 | VWF | c.5436T>A (p.Ala1812=) n.421-22174T>A | |
12 | g.6016109G>A | CA383494941 | VWF | c.5435C>T (p.Ala1812Val) n.421-22175C>T | |
12 | g.6016109G>C | CA383494944 | VWF | c.5435C>G (p.Ala1812Gly) n.421-22175C>G | |
12 | g.6016109G>T | CA383494947 | VWF | c.5435C>A (p.Ala1812Asp) n.421-22175C>A | |
12 | g.6016110C>A | CA383494948 | VWF | c.5434G>T (p.Ala1812Ser) n.421-22176G>T | |
12 | g.6016110C>G | CA383494949 | VWF | c.5434G>C (p.Ala1812Pro) n.421-22176G>C | |
12 | g.6016110C>T | CA383494952 | VWF | c.5434G>A (p.Ala1812Thr) n.421-22176G>A | COSMIC |
12 | g.6016111T>A | CA478100654 | VWF | c.5433A>T (p.Ala1811=) n.421-22177A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016111T>C | CA478100653 | VWF | c.5433A>G (p.Ala1811=) n.421-22177A>G | gnomAD v4 |
12 | g.6016111T>G | CA478100652 | VWF | c.5433A>C (p.Ala1811=) n.421-22177A>C | |
12 | g.6016111T= | CA2013871463 | VWF | c.5433A= (p.Ala1811=) n.421-22177A= | |
12 | g.6016112G>A | CA383494964 | VWF | c.5432C>T (p.Ala1811Val) n.421-22178C>T | dbSNP gnomAD v4 |
12 | g.6016112G>C | CA383494956 | VWF | c.5432C>G (p.Ala1811Gly) n.421-22178C>G | dbSNP |
12 | g.6016112G= | CA2013871464 | VWF | c.5432C= (p.Ala1811=) n.421-22178C= | |
12 | g.6016112G>T | CA383494957 | VWF | c.5432C>A (p.Ala1811Glu) n.421-22178C>A | |
12 | g.6016113C>A | CA383494970 | VWF | c.5431G>T (p.Ala1811Ser) n.421-22179G>T | |
12 | g.6016113C>G | CA383494979 | VWF | c.5431G>C (p.Ala1811Pro) n.421-22179G>C | |
12 | g.6016113C>T | CA383494982 | VWF | c.5431G>A (p.Ala1811Thr) n.421-22179G>A | gnomAD v4 |
12 | g.6016114T>A | CA478100655 | VWF | c.5430A>T (p.Ala1810=) n.421-22180A>T | |
12 | g.6016114T>C | CA478100656 | VWF | c.5430A>G (p.Ala1810=) n.421-22180A>G | |
12 | g.6016114T>G | CA478100657 | VWF | c.5430A>C (p.Ala1810=) n.421-22180A>C | |
12 | g.6016115G>A | CA383494986 | VWF | c.5429C>T (p.Ala1810Val) n.421-22181C>T | gnomAD v4 |
12 | g.6016115G>C | CA383494988 | VWF | c.5429C>G (p.Ala1810Gly) n.421-22181C>G | |
12 | g.6016115G>T | CA383494992 | VWF | c.5429C>A (p.Ala1810Glu) n.421-22181C>A | ClinVar dbSNP |
12 | g.6016116C>A | CA383494997 | VWF | c.5428G>T (p.Ala1810Ser) n.421-22182G>T | |
12 | g.6016116C>G | CA383495000 | VWF | c.5428G>C (p.Ala1810Pro) n.421-22182G>C | |
12 | g.6016116C>T | CA383495001 | VWF | c.5428G>A (p.Ala1810Thr) n.421-22182G>A | |
12 | g.6016117A= | CA2013871465 | VWF | c.5427T= (p.Asp1809=) n.421-22183T= | |
12 | g.6016117A>C | CA383495002 | VWF | c.5427T>G (p.Asp1809Glu) n.421-22183T>G | |
12 | g.6016117A>G | CA232293856 | VWF | c.5427T>C (p.Asp1809=) n.421-22183T>C | dbSNP |
12 | g.6016117A>T | CA383495004 | VWF | c.5427T>A (p.Asp1809Glu) n.421-22183T>A | |
12 | g.6016118T>A | CA383495012 | VWF | c.5426A>T (p.Asp1809Val) n.421-22184A>T | gnomAD v4 |
12 | g.6016118T>C | CA383495017 | VWF | c.5426A>G (p.Asp1809Gly) n.421-22184A>G | ClinVar |
12 | g.6016118T>G | CA383495007 | VWF | c.5426A>C (p.Asp1809Ala) n.421-22184A>C | |
12 | g.6016119C>A | CA383495020 | VWF | c.5425G>T (p.Asp1809Tyr) n.421-22185G>T | |
12 | g.6016119C>G | CA383495022 | VWF | c.5425G>C (p.Asp1809His) n.421-22185G>C | |
12 | g.6016119C>T | CA383495025 | VWF | c.5425G>A (p.Asp1809Asn) n.421-22185G>A | |
12 | g.6016120C>A | CA478100658 | VWF | c.5424G>T (p.Val1808=) n.421-22186G>T | gnomAD v4 |
12 | g.6016120C= | CA2013871466 | VWF | c.5424G= (p.Val1808=) n.421-22186G= | |
12 | g.6016120C>G | CA478100659 | VWF | c.5424G>C (p.Val1808=) n.421-22186G>C | |
12 | g.6016120C>T | CA478100660 | VWF | c.5424G>A (p.Val1808=) n.421-22186G>A | dbSNP gnomAD v4 |
12 | g.6016121A>C | CA383495028 | VWF | c.5423T>G (p.Val1808Gly) n.421-22187T>G | |
12 | g.6016121A>G | CA383495031 | VWF | c.5423T>C (p.Val1808Ala) n.421-22187T>C | |
12 | g.6016121A>T | CA383495035 | VWF | c.5423T>A (p.Val1808Glu) n.421-22187T>A | |
12 | g.6016122C>A | CA383495039 | VWF | c.5422G>T (p.Val1808Leu) n.421-22188G>T | |
12 | g.6016122C= | CA2013871467 | VWF | c.5422G= (p.Val1808=) n.421-22188G= | |
12 | g.6016122C>G | CA383495042 | VWF | c.5422G>C (p.Val1808Leu) n.421-22188G>C | |
12 | g.6016122C>T | CA383495046 | VWF | c.5422G>A (p.Val1808Met) n.421-22188G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016123T>A | CA478100663 | VWF | c.5421A>T (p.Ser1807=) n.421-22189A>T | |
12 | g.6016123T>C | CA478100661 | VWF | c.5421A>G (p.Ser1807=) n.421-22189A>G | gnomAD v4 |
12 | g.6016123T>G | CA478100662 | VWF | c.5421A>C (p.Ser1807=) n.421-22189A>C | |
12 | g.6016124G>A | CA383495052 | VWF | c.5420C>T (p.Ser1807Leu) n.421-22190C>T | dbSNP gnomAD v4 |
12 | g.6016124G>C | CA383495054 | VWF | c.5420C>G (p.Ser1807Ter) n.421-22190C>G | |
12 | g.6016124G= | CA2013871468 | VWF | c.5420C= (p.Ser1807=) n.421-22190C= | |
12 | g.6016124G>T | CA383495060 | VWF | c.5420C>A (p.Ser1807Ter) n.421-22190C>A | |
12 | g.6016125A>C | CA383495068 | VWF | c.5419T>G (p.Ser1807Ala) n.421-22191T>G | |
12 | g.6016125A>G | CA383495071 | VWF | c.5419T>C (p.Ser1807Pro) n.421-22191T>C | |
12 | g.6016125A>T | CA383495065 | VWF | c.5419T>A (p.Ser1807Thr) n.421-22191T>A | |
12 | g.6016126A>C | CA383495074 | VWF | c.5418T>G (p.Asp1806Glu) n.421-22192T>G | |
12 | g.6016126A>G | CA478100664 | VWF | c.5418T>C (p.Asp1806=) n.421-22192T>C | gnomAD v4 |
12 | g.6016126A>T | CA383495077 | VWF | c.5418T>A (p.Asp1806Glu) n.421-22192T>A | |
12 | g.6016127T>A | CA383495080 | VWF | c.5417A>T (p.Asp1806Val) n.421-22193A>T | gnomAD v4 |
12 | g.6016127T>C | CA383495084 | VWF | c.5417A>G (p.Asp1806Gly) n.421-22193A>G | gnomAD v4 |
12 | g.6016127T>G | CA383495087 | VWF | c.5417A>C (p.Asp1806Ala) n.421-22193A>C | |
12 | g.6016128C>A | CA383495099 | VWF | c.5416G>T (p.Asp1806Tyr) n.421-22194G>T | |
12 | g.6016128C>G | CA383495097 | VWF | c.5416G>C (p.Asp1806His) n.421-22194G>C | |
12 | g.6016128C>T | CA383495092 | VWF | c.5416G>A (p.Asp1806Asn) n.421-22194G>A | |
12 | g.6016129C>A | CA478100665 | VWF | c.5415G>T (p.Val1805=) n.421-22195G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016129C= | CA2013871469 | VWF | c.5415G= (p.Val1805=) n.421-22195G= | |
12 | g.6016129C>G | CA478100666 | VWF | c.5415G>C (p.Val1805=) n.421-22195G>C | |
12 | g.6016129C>T | CA478100667 | VWF | c.5415G>A (p.Val1805=) n.421-22195G>A | |
12 | g.6016131_6016132del | CA2695216018 | VWF | c.5414_5415del (p.Val1805GlyfsTer8) n.421-22196_421-22195del | |
12 | g.6016130A>C | CA383495102 | VWF | c.5414T>G (p.Val1805Gly) n.421-22196T>G | |
12 | g.6016130A>G | CA383495104 | VWF | c.5414T>C (p.Val1805Ala) n.421-22196T>C | gnomAD v4 |
12 | g.6016130A>T | CA383495108 | VWF | c.5414T>A (p.Val1805Glu) n.421-22196T>A | |
12 | g.6016131C>A | CA383495114 | VWF | c.5413G>T (p.Val1805Leu) n.421-22197G>T | |
12 | g.6016131C= | CA2013871470 | VWF | c.5413G= (p.Val1805=) n.421-22197G= | |
12 | g.6016131C>G | CA383495118 | VWF | c.5413G>C (p.Val1805Leu) n.421-22197G>C | |
12 | g.6016131C>T | CA6402279 | VWF | c.5413G>A (p.Val1805Met) n.421-22197G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016132A>C | CA478100668 | VWF | c.5412T>G (p.Ser1804=) n.421-22198T>G | |
12 | g.6016132A>G | CA478100669 | VWF | c.5412T>C (p.Ser1804=) n.421-22198T>C | |
12 | g.6016132A>T | CA478100670 | VWF | c.5412T>A (p.Ser1804=) n.421-22198T>A | |
12 | g.6016133G>A | CA383495125 | VWF | c.5411C>T (p.Ser1804Phe) n.421-22199C>T | |
12 | g.6016133G>C | CA383495133 | VWF | c.5411C>G (p.Ser1804Cys) n.421-22199C>G | gnomAD v4 |
12 | g.6016133G>T | CA383495128 | VWF | c.5411C>A (p.Ser1804Tyr) n.421-22199C>A | |
12 | g.6016134A>C | CA383495136 | VWF | c.5410T>G (p.Ser1804Ala) n.421-22200T>G | |
12 | g.6016134A>G | CA383495142 | VWF | c.5410T>C (p.Ser1804Pro) n.421-22200T>C | |
12 | g.6016134A>T | CA383495139 | VWF | c.5410T>A (p.Ser1804Thr) n.421-22200T>A | |
12 | g.6016135G>A | CA478100671 | VWF | c.5409C>T (p.Val1803=) n.421-22201C>T | dbSNP |
12 | g.6016135G>C | CA478100672 | VWF | c.5409C>G (p.Val1803=) n.421-22201C>G | |
12 | g.6016135G= | CA2013871471 | VWF | c.5409C= (p.Val1803=) n.421-22201C= | |
12 | g.6016135G>T | CA478100673 | VWF | c.5409C>A (p.Val1803=) n.421-22201C>A | |
12 | g.6016136A>C | CA383495146 | VWF | c.5408T>G (p.Val1803Gly) n.421-22202T>G | |
12 | g.6016136A>G | CA383495161 | VWF | c.5408T>C (p.Val1803Ala) n.421-22202T>C | |
12 | g.6016136A>T | CA383495159 | VWF | c.5408T>A (p.Val1803Asp) n.421-22202T>A | |
12 | g.6016137C>A | CA383495166 | VWF | c.5407G>T (p.Val1803Phe) n.421-22203G>T | gnomAD v4 |
12 | g.6016137C= | CA2013871472 | VWF | c.5407G= (p.Val1803=) n.421-22203G= | |
12 | g.6016137C>G | CA383495169 | VWF | c.5407G>C (p.Val1803Leu) n.421-22203G>C | |
12 | g.6016137C>T | CA383495172 | VWF | c.5407G>A (p.Val1803Ile) n.421-22203G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016138G>A | CA243727 | VWF | c.5406C>T (p.Asp1802=) n.421-22204C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016138G>C | CA383495179 | VWF | c.5406C>G (p.Asp1802Glu) n.421-22204C>G | |
12 | g.6016138G= | CA2013871473 | VWF | c.5406C= (p.Asp1802=) n.421-22204C= | |
12 | g.6016138G>T | CA383495182 | VWF | c.5406C>A (p.Asp1802Glu) n.421-22204C>A | |
12 | g.6016139T>A | CA383495185 | VWF | c.5405A>T (p.Asp1802Val) n.421-22205A>T | |
12 | g.6016139T>C | CA383495188 | VWF | c.5405A>G (p.Asp1802Gly) n.421-22205A>G | |
12 | g.6016139T>G | CA383495190 | VWF | c.5405A>C (p.Asp1802Ala) n.421-22205A>C | |
12 | g.6016140C>A | CA383495192 | VWF | c.5404G>T (p.Asp1802Tyr) n.421-22206G>T | |
12 | g.6016140C>G | CA383495196 | VWF | c.5404G>C (p.Asp1802His) n.421-22206G>C | |
12 | g.6016140C>T | CA383495199 | VWF | c.5404G>A (p.Asp1802Asn) n.421-22206G>A | |
12 | g.6016141C>A | CA478100674 | VWF | c.5403G>T (p.Thr1801=) n.421-22207G>T | |
12 | g.6016141C= | CA2013871474 | VWF | c.5403G= (p.Thr1801=) n.421-22207G= | |
12 | g.6016141C>G | CA478100675 | VWF | c.5403G>C (p.Thr1801=) n.421-22207G>C | |
12 | g.6016141C>T | CA6402280 | VWF | c.5403G>A (p.Thr1801=) n.421-22207G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016142G>A | CA6402281 | VWF | c.5402C>T (p.Thr1801Met) n.421-22208C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6016142G>C | CA383495211 | VWF | c.5402C>G (p.Thr1801Arg) n.421-22208C>G | |
12 | g.6016142G= | CA2013871475 | VWF | c.5402C= (p.Thr1801=) n.421-22208C= | |
12 | g.6016142G>T | CA383495207 | VWF | c.5402C>A (p.Thr1801Lys) n.421-22208C>A | |
12 | g.6016143T>A | CA383495213 | VWF | c.5401A>T (p.Thr1801Ser) n.421-22209A>T | |
12 | g.6016143T>C | CA383495216 | VWF | c.5401A>G (p.Thr1801Ala) n.421-22209A>G | |
12 | g.6016143T>G | CA383495219 | VWF | c.5401A>C (p.Thr1801Pro) n.421-22209A>C | |
12 | g.6016144G>A | CA478100677 | VWF | c.5400C>T (p.Val1800=) n.421-22210C>T | gnomAD v4 |
12 | g.6016144G>C | CA478100679 | VWF | c.5400C>G (p.Val1800=) n.421-22210C>G | |
12 | g.6016144G>T | CA478100678 | VWF | c.5400C>A (p.Val1800=) n.421-22210C>A | |
12 | g.6016145A>C | CA383495224 | VWF | c.5399T>G (p.Val1800Gly) n.421-22211T>G | |
12 | g.6016145A>G | CA383495228 | VWF | c.5399T>C (p.Val1800Ala) n.421-22211T>C | gnomAD v4 |
12 | g.6016145A>T | CA383495230 | VWF | c.5399T>A (p.Val1800Asp) n.421-22211T>A | |
12 | g.6016146C>A | CA383495234 | VWF | c.5398G>T (p.Val1800Phe) n.421-22212G>T | |
12 | g.6016146C= | CA2013871476 | VWF | c.5398G= (p.Val1800=) n.421-22212G= | |
12 | g.6016146C>G | CA383495237 | VWF | c.5398G>C (p.Val1800Leu) n.421-22212G>C | |
12 | g.6016146C>T | CA383495240 | VWF | c.5398G>A (p.Val1800Ile) n.421-22212G>A | dbSNP |
12 | g.6016147C>A | CA478100681 | VWF | c.5397G>T (p.Leu1799=) n.421-22213G>T | |
12 | g.6016147C>G | CA478100682 | VWF | c.5397G>C (p.Leu1799=) n.421-22213G>C | |
12 | g.6016147C>T | CA478100683 | VWF | c.5397G>A (p.Leu1799=) n.421-22213G>A | |
12 | g.6016148A>C | CA383495251 | VWF | c.5396T>G (p.Leu1799Arg) n.421-22214T>G | |
12 | g.6016148A>G | CA383495247 | VWF | c.5396T>C (p.Leu1799Pro) n.421-22214T>C | |
12 | g.6016148A>T | CA383495245 | VWF | c.5396T>A (p.Leu1799Gln) n.421-22214T>A | |
12 | g.6016149G>A | CA478100684 | VWF | c.5395C>T (p.Leu1799=) n.421-22215C>T | COSMIC |
12 | g.6016149G>C | CA383495253 | VWF | c.5395C>G (p.Leu1799Val) n.421-22215C>G | gnomAD v4 |
12 | g.6016149G>T | CA383495256 | VWF | c.5395C>A (p.Leu1799Met) n.421-22215C>A | gnomAD v4 |
12 | g.6016150G>A | CA6402282 | VWF | c.5394C>T (p.Ile1798=) n.421-22216C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6016150G>C | CA383495261 | VWF | c.5394C>G (p.Ile1798Met) n.421-22216C>G | |
12 | g.6016150G= | CA2013871477 | VWF | c.5394C= (p.Ile1798=) n.421-22216C= | |
12 | g.6016150G>T | CA478100687 | VWF | c.5394C>A (p.Ile1798=) n.421-22216C>A | |
12 | g.6016151A>C | CA383495264 | VWF | c.5393T>G (p.Ile1798Ser) n.421-22217T>G | |
12 | g.6016151A>G | CA383495267 | VWF | c.5393T>C (p.Ile1798Thr) n.421-22217T>C | gnomAD v4 |
12 | g.6016151A>T | CA383495270 | VWF | c.5393T>A (p.Ile1798Asn) n.421-22217T>A | |
12 | g.6016152T>A | CA383495273 | VWF | c.5392A>T (p.Ile1798Phe) n.421-22218A>T | |
12 | g.6016152T>C | CA383495276 | VWF | c.5392A>G (p.Ile1798Val) n.421-22218A>G | |
12 | g.6016152T>G | CA383495279 | VWF | c.5392A>C (p.Ile1798Leu) n.421-22218A>C | |
12 | g.6016153G>A | CA478100689 | VWF | c.5391C>T (p.Val1797=) n.421-22219C>T | |
12 | g.6016153G>C | CA478100690 | VWF | c.5391C>G (p.Val1797=) n.421-22219C>G | |
12 | g.6016153G>T | CA478100691 | VWF | c.5391C>A (p.Val1797=) n.421-22219C>A | COSMIC |
12 | g.6016154A>C | CA383495282 | VWF | c.5390T>G (p.Val1797Gly) n.421-22220T>G | |
12 | g.6016154A>G | CA383495285 | VWF | c.5390T>C (p.Val1797Ala) n.421-22220T>C | |
12 | g.6016154A>T | CA383495288 | VWF | c.5390T>A (p.Val1797Asp) n.421-22220T>A | |
12 | g.6016155C>A | CA383495296 | VWF | c.5389G>T (p.Val1797Phe) n.421-22221G>T | |
12 | g.6016155C= | CA2013871478 | VWF | c.5389G= (p.Val1797=) n.421-22221G= | |
12 | g.6016155C>G | CA383495291 | VWF | c.5389G>C (p.Val1797Leu) n.421-22221G>C | |
12 | g.6016155C>T | CA232293873 | VWF | c.5389G>A (p.Val1797Ile) n.421-22221G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6016156C>A | CA478100694 | VWF | c.5388G>T (p.Val1796=) n.421-22222G>T | gnomAD v4 |
12 | g.6016156C= | CA2013871479 | VWF | c.5388G= (p.Val1796=) n.421-22222G= | |
12 | g.6016156C>G | CA478100697 | VWF | c.5388G>C (p.Val1796=) n.421-22222G>C | |
12 | g.6016156C>T | CA478100696 | VWF | c.5388G>A (p.Val1796=) n.421-22222G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.6016157A= | CA2013871480 | VWF | c.5387T= (p.Val1796=) n.421-22223T= | |
12 | g.6016157A>C | CA383495300 | VWF | c.5387T>G (p.Val1796Gly) n.421-22223T>G | |
12 | g.6016157A>G | CA6402283 | VWF | c.5387T>C (p.Val1796Ala) n.421-22223T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016157A>T | CA383495306 | VWF | c.5387T>A (p.Val1796Glu) n.421-22223T>A | |
12 | g.6016158C>A | CA383495311 | VWF | c.5386G>T (p.Val1796Leu) n.421-22224G>T | |
12 | g.6016158C= | CA2013871481 | VWF | c.5386G= (p.Val1796=) n.421-22224G= | |
12 | g.6016158C>G | CA383495314 | VWF | c.5386G>C (p.Val1796Leu) n.421-22224G>C | |
12 | g.6016158C>T | CA383495317 | VWF | c.5386G>A (p.Val1796Met) n.421-22224G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016159C>A | CA478100698 | VWF | c.5385G>T (p.Ala1795=) n.421-22225G>T | |
12 | g.6016159C= | CA2013871482 | VWF | c.5385G= (p.Ala1795=) n.421-22225G= | |
12 | g.6016159C>G | CA478100699 | VWF | c.5385G>C (p.Ala1795=) n.421-22225G>C | |
12 | g.6016159C>T | CA478100700 | VWF | c.5385G>A (p.Ala1795=) n.421-22225G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016160G>A | CA6402284 | VWF | c.5384C>T (p.Ala1795Val) n.421-22226C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016160G>C | CA383495323 | VWF | c.5384C>G (p.Ala1795Gly) n.421-22226C>G | |
12 | g.6016160G= | CA2013871483 | VWF | c.5384C= (p.Ala1795=) n.421-22226C= | |
12 | g.6016160G>T | CA383495328 | VWF | c.5384C>A (p.Ala1795Glu) n.421-22226C>A | |
12 | g.6016161C>A | CA383495330 | VWF | c.5383G>T (p.Ala1795Ser) n.421-22227G>T | |
12 | g.6016161C= | CA2013871484 | VWF | c.5383G= (p.Ala1795=) n.421-22227G= | |
12 | g.6016161C>G | CA383495334 | VWF | c.5383G>C (p.Ala1795Pro) n.421-22227G>C | |
12 | g.6016161C>T | CA383495336 | VWF | c.5383G>A (p.Ala1795Thr) n.421-22227G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016162C>A | CA383495339 | VWF | c.5382G>T (p.Lys1794Asn) n.421-22228G>T | |
12 | g.6016162C= | CA2013871485 | VWF | c.5382G= (p.Lys1794=) n.421-22228G= | |
12 | g.6016162C>G | CA383495342 | VWF | c.5382G>C (p.Lys1794Asn) n.421-22228G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016162C>T | CA478100703 | VWF | c.5382G>A (p.Lys1794=) n.421-22228G>A | |
12 | g.6016163T>A | CA383495346 | VWF | c.5381A>T (p.Lys1794Met) n.421-22229A>T | |
12 | g.6016163T>C | CA383495354 | VWF | c.5381A>G (p.Lys1794Arg) n.421-22229A>G | |
12 | g.6016163T>G | CA383495350 | VWF | c.5381A>C (p.Lys1794Thr) n.421-22229A>C | |
12 | g.6016164T>A | CA383495358 | VWF | c.5380A>T (p.Lys1794Ter) n.421-22230A>T | |
12 | g.6016164T>C | CA228719 | VWF | c.5380A>G (p.Lys1794Glu) n.421-22230A>G | ClinVar dbSNP gnomAD v4 |
12 | g.6016164T>G | CA383495361 | VWF | c.5380A>C (p.Lys1794Gln) n.421-22230A>C | |
12 | g.6016164T= | CA2013871486 | VWF | c.5380A= (p.Lys1794=) n.421-22230A= | |
12 | g.6016165T>A | CA478100708 | VWF | c.5379A>T (p.Ser1793=) n.421-22231A>T | |
12 | g.6016165T>C | CA243725 | VWF | c.5379A>G (p.Ser1793=) n.421-22231A>G | ClinVar dbSNP |
12 | g.6016165T>G | CA478100706 | VWF | c.5379A>C (p.Ser1793=) n.421-22231A>C | |
12 | g.6016165T= | CA2013871487 | VWF | c.5379A= (p.Ser1793=) n.421-22231A= | |
12 | g.6016166G>A | CA383495370 | VWF | c.5378C>T (p.Ser1793Leu) n.421-22232C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016166G>C | CA383495373 | VWF | c.5378C>G (p.Ser1793Ter) n.421-22232C>G | |
12 | g.6016166G= | CA2013871488 | VWF | c.5378C= (p.Ser1793=) n.421-22232C= | |
12 | g.6016166G>T | CA383495375 | VWF | c.5378C>A (p.Ser1793Ter) n.421-22232C>A | |
12 | g.6016167A>C | CA383495381 | VWF | c.5377T>G (p.Ser1793Ala) n.421-22233T>G | |
12 | g.6016167A>G | CA383495383 | VWF | c.5377T>C (p.Ser1793Pro) n.421-22233T>C | |
12 | g.6016167A>T | CA383495386 | VWF | c.5377T>A (p.Ser1793Thr) n.421-22233T>A | |
12 | g.6016168G>A | CA478100711 | VWF | c.5376C>T (p.Ala1792=) n.421-22234C>T | |
12 | g.6016168G>C | CA478100712 | VWF | c.5376C>G (p.Ala1792=) n.421-22234C>G | dbSNP gnomAD v4 |
12 | g.6016168G= | CA2013871489 | VWF | c.5376C= (p.Ala1792=) n.421-22234C= | |
12 | g.6016168G>T | CA478100713 | VWF | c.5376C>A (p.Ala1792=) n.421-22234C>A | |
12 | g.6016169G>A | CA383495389 | VWF | c.5375C>T (p.Ala1792Val) n.421-22235C>T | gnomAD v4 |
12 | g.6016169G>C | CA383495392 | VWF | c.5375C>G (p.Ala1792Gly) n.421-22235C>G | |
12 | g.6016169G= | CA2013871490 | VWF | c.5375C= (p.Ala1792=) n.421-22235C= | |
12 | g.6016169G>T | CA383495394 | VWF | c.5375C>A (p.Ala1792Asp) n.421-22235C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016170C>A | CA383495395 | VWF | c.5374G>T (p.Ala1792Ser) n.421-22236G>T | |
12 | g.6016170C>G | CA383495402 | VWF | c.5374G>C (p.Ala1792Pro) n.421-22236G>C | |
12 | g.6016170C>T | CA383495399 | VWF | c.5374G>A (p.Ala1792Thr) n.421-22236G>A | COSMIC |
12 | g.6016171T>A | CA478100715 | VWF | c.5373A>T (p.Gly1791=) n.421-22237A>T | |
12 | g.6016171T>C | CA478100716 | VWF | c.5373A>G (p.Gly1791=) n.421-22237A>G | COSMIC |
12 | g.6016171T>G | CA478100717 | VWF | c.5373A>C (p.Gly1791=) n.421-22237A>C | |
12 | g.6016172C>A | CA383495405 | VWF | c.5372G>T (p.Gly1791Val) n.421-22238G>T | |
12 | g.6016172C= | CA2013871491 | VWF | c.5372G= (p.Gly1791=) n.421-22238G= | |
12 | g.6016172C>G | CA383495409 | VWF | c.5372G>C (p.Gly1791Ala) n.421-22238G>C | |
12 | g.6016172C>T | CA6402285 | VWF | c.5372G>A (p.Gly1791Glu) n.421-22238G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016173C>A | CA383495417 | VWF | c.5371G>T (p.Gly1791Ter) n.421-22239G>T | |
12 | g.6016173C>G | CA383495419 | VWF | c.5371G>C (p.Gly1791Arg) n.421-22239G>C | |
12 | g.6016173C>T | CA383495424 | VWF | c.5371G>A (p.Gly1791Arg) n.421-22239G>A | COSMIC |
12 | g.6016174C>A | CA478100718 | VWF | c.5370G>T (p.Pro1790=) n.421-22240G>T | |
12 | g.6016174C= | CA2013871492 | VWF | c.5370G= (p.Pro1790=) n.421-22240G= | |
12 | g.6016174C>G | CA478100719 | VWF | c.5370G>C (p.Pro1790=) n.421-22240G>C | |
12 | g.6016174C>T | CA6402286 | VWF | c.5370G>A (p.Pro1790=) n.421-22240G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016175G>A | CA243723 | VWF | c.5369C>T (p.Pro1790Leu) n.421-22241C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6016175G>C | CA383495432 | VWF | c.5369C>G (p.Pro1790Arg) n.421-22241C>G | dbSNP gnomAD v4 |
12 | g.6016175G= | CA2013871493 | VWF | c.5369C= (p.Pro1790=) n.421-22241C= | |
12 | g.6016175G>T | CA383495435 | VWF | c.5369C>A (p.Pro1790Gln) n.421-22241C>A | |
12 | g.6016176G>A | CA383495445 | VWF | c.5368C>T (p.Pro1790Ser) n.421-22242C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016176G>C | CA383495442 | VWF | c.5368C>G (p.Pro1790Ala) n.421-22242C>G | |
12 | g.6016176G= | CA2013871494 | VWF | c.5368C= (p.Pro1790=) n.421-22242C= | |
12 | g.6016176G>T | CA383495440 | VWF | c.5368C>A (p.Pro1790Thr) n.421-22242C>A | |
12 | g.6016177C>A | CA383495448 | VWF | c.5367G>T (p.Arg1789Ser) n.421-22243G>T | |
12 | g.6016177C>G | CA383495452 | VWF | c.5367G>C (p.Arg1789Ser) n.421-22243G>C | |
12 | g.6016177C>T | CA478100725 | VWF | c.5367G>A (p.Arg1789=) n.421-22243G>A | |
12 | g.6016178C>A | CA383495455 | VWF | c.5366G>T (p.Arg1789Met) n.421-22244G>T | |
12 | g.6016178C>G | CA383495457 | VWF | c.5366G>C (p.Arg1789Thr) n.421-22244G>C | gnomAD v4 |
12 | g.6016178C>T | CA383495461 | VWF | c.5366G>A (p.Arg1789Lys) n.421-22244G>A | |
12 | g.6016179T>A | CA383495467 | VWF | c.5365A>T (p.Arg1789Trp) n.421-22245A>T | |
12 | g.6016179T>C | CA383495470 | VWF | c.5365A>G (p.Arg1789Gly) n.421-22245A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016179T>G | CA478100727 | VWF | c.5365A>C (p.Arg1789=) n.421-22245A>C | |
12 | g.6016179T= | CA2013871495 | VWF | c.5365A= (p.Arg1789=) n.421-22245A= | |
12 | g.6016180G>A | CA478100728 | VWF | c.5364C>T (p.Ala1788=) n.421-22246C>T | |
12 | g.6016180G>C | CA478100729 | VWF | c.5364C>G (p.Ala1788=) n.421-22246C>G | |
12 | g.6016180G>T | CA478100730 | VWF | c.5364C>A (p.Ala1788=) n.421-22246C>A | |
12 | g.6016181G>A | CA383495473 | VWF | c.5363C>T (p.Ala1788Val) n.421-22247C>T | gnomAD v4 |
12 | g.6016181G>C | CA383495474 | VWF | c.5363C>G (p.Ala1788Gly) n.421-22247C>G | |
12 | g.6016181G>T | CA383495477 | VWF | c.5363C>A (p.Ala1788Asp) n.421-22247C>A | |
12 | g.6016182C>A | CA383495481 | VWF | c.5362G>T (p.Ala1788Ser) n.421-22248G>T | |
12 | g.6016182C>G | CA383495484 | VWF | c.5362G>C (p.Ala1788Pro) n.421-22248G>C | gnomAD v4 |
12 | g.6016182C>T | CA383495487 | VWF | c.5362G>A (p.Ala1788Thr) n.421-22248G>A | |
12 | g.6016183A>C | CA478100732 | VWF | c.5361T>G (p.Gly1787=) n.421-22249T>G | |
12 | g.6016183A>G | CA478100733 | VWF | c.5361T>C (p.Gly1787=) n.421-22249T>C | |
12 | g.6016183A>T | CA478100734 | VWF | c.5361T>A (p.Gly1787=) n.421-22249T>A | gnomAD v4 |
12 | g.6016184C>A | CA383495494 | VWF | c.5360G>T (p.Gly1787Val) n.421-22250G>T | |
12 | g.6016184C>G | CA383495489 | VWF | c.5360G>C (p.Gly1787Ala) n.421-22250G>C | |
12 | g.6016184C>T | CA383495492 | VWF | c.5360G>A (p.Gly1787Asp) n.421-22250G>A | |
12 | g.6016185C>A | CA383495497 | VWF | c.5359G>T (p.Gly1787Cys) n.421-22251G>T | |
12 | g.6016185C= | CA2013871496 | VWF | c.5359G= (p.Gly1787=) n.421-22251G= | |
12 | g.6016185C>G | CA383495499 | VWF | c.5359G>C (p.Gly1787Arg) n.421-22251G>C | |
12 | g.6016185C>T | CA6402287 | VWF | c.5359G>A (p.Gly1787Ser) n.421-22251G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016186A>C | CA383495505 | VWF | c.5358T>G (p.His1786Gln) n.421-22252T>G | |
12 | g.6016186A>G | CA478100737 | VWF | c.5358T>C (p.His1786=) n.421-22252T>C | COSMIC |
12 | g.6016186A>T | CA383495507 | VWF | c.5358T>A (p.His1786Gln) n.421-22252T>A | |
12 | g.6016187T>A | CA383495510 | VWF | c.5357A>T (p.His1786Leu) n.421-22253A>T | |
12 | g.6016187T>C | CA232293887 | VWF | c.5357A>G (p.His1786Arg) n.421-22253A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
12 | g.6016187T>G | CA383495515 | VWF | c.5357A>C (p.His1786Pro) n.421-22253A>C | |
12 | g.6016187T= | CA2013871497 | VWF | c.5357A= (p.His1786=) n.421-22253A= | |
12 | g.6016188G>A | CA383495517 | VWF | c.5356C>T (p.His1786Tyr) n.421-22254C>T | |
12 | g.6016188G>C | CA228717 | VWF | c.5356C>G (p.His1786Asp) n.421-22254C>G | ClinVar dbSNP |
12 | g.6016188G= | CA2013871498 | VWF | c.5356C= (p.His1786=) n.421-22254C= | |
12 | g.6016188G>T | CA383495523 | VWF | c.5356C>A (p.His1786Asn) n.421-22254C>A | |
12 | g.6016189C>A | CA383495526 | VWF | c.5355G>T (p.Met1785Ile) n.421-22255G>T | |
12 | g.6016189C= | CA2013871499 | VWF | c.5355G= (p.Met1785=) n.421-22255G= | |
12 | g.6016189C>G | CA383495536 | VWF | c.5355G>C (p.Met1785Ile) n.421-22255G>C | |
12 | g.6016189C>T | CA383495534 | VWF | c.5355G>A (p.Met1785Ile) n.421-22255G>A | dbSNP COSMIC |
12 | g.6016190A= | CA2013871500 | VWF | c.5354T= (p.Met1785=) n.421-22256T= | |
12 | g.6016190A>C | CA383495539 | VWF | c.5354T>G (p.Met1785Arg) n.421-22256T>G | |
12 | g.6016190A>G | CA6402288 | VWF | c.5354T>C (p.Met1785Thr) n.421-22256T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016190A>T | CA383495541 | VWF | c.5354T>A (p.Met1785Lys) n.421-22256T>A | |
12 | g.6016191T>A | CA383495546 | VWF | c.5353A>T (p.Met1785Leu) n.421-22257A>T | |
12 | g.6016191T>C | CA383495552 | VWF | c.5353A>G (p.Met1785Val) n.421-22257A>G | |
12 | g.6016191T>G | CA383495549 | VWF | c.5353A>C (p.Met1785Leu) n.421-22257A>C | |
12 | g.6016192T>A | CA383495556 | VWF | c.5352A>T (p.Glu1784Asp) n.421-22258A>T | |
12 | g.6016192T>C | CA478100739 | VWF | c.5352A>G (p.Glu1784=) n.421-22258A>G | |
12 | g.6016192T>G | CA383495559 | VWF | c.5352A>C (p.Glu1784Asp) n.421-22258A>C | |
12 | g.6016193T>A | CA383495560 | VWF | c.5351A>T (p.Glu1784Val) n.421-22259A>T | gnomAD v4 |
12 | g.6016193T>C | CA383495562 | VWF | c.5351A>G (p.Glu1784Gly) n.421-22259A>G | |
12 | g.6016193T>G | CA383495561 | VWF | c.5351A>C (p.Glu1784Ala) n.421-22259A>C | |
12 | g.6016194C>A | CA383495565 | VWF | c.5350G>T (p.Glu1784Ter) n.421-22260G>T | |
12 | g.6016194C>G | CA383495570 | VWF | c.5350G>C (p.Glu1784Gln) n.421-22260G>C | |
12 | g.6016194C>T | CA383495568 | VWF | c.5350G>A (p.Glu1784Lys) n.421-22260G>A | |
12 | g.6016195T>A | CA478100744 | VWF | c.5349A>T (p.Ser1783=) n.421-22261A>T | |
12 | g.6016195T>C | CA478100745 | VWF | c.5349A>G (p.Ser1783=) n.421-22261A>G | dbSNP |
12 | g.6016195T>G | CA478100746 | VWF | c.5349A>C (p.Ser1783=) n.421-22261A>C | |
12 | g.6016195T= | CA2013871501 | VWF | c.5349A= (p.Ser1783=) n.421-22261A= | |
12 | g.6016196G>A | CA383495574 | VWF | c.5348C>T (p.Ser1783Leu) n.421-22262C>T | gnomAD v4 |
12 | g.6016196G>C | CA383495583 | VWF | c.5348C>G (p.Ser1783Ter) n.421-22262C>G | |
12 | g.6016196G>T | CA383495587 | VWF | c.5348C>A (p.Ser1783Ter) n.421-22262C>A | |
12 | g.6016197A= | CA2013871502 | VWF | c.5347T= (p.Ser1783=) n.421-22263T= | |
12 | g.6016197A>C | CA228715 | VWF | c.5347T>G (p.Ser1783Ala) n.421-22263T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016197A>G | CA383495593 | VWF | c.5347T>C (p.Ser1783Pro) n.421-22263T>C | |
12 | g.6016197A>T | CA383495595 | VWF | c.5347T>A (p.Ser1783Thr) n.421-22263T>A | |
12 | g.6016198A>C | CA478100747 | VWF | c.5346T>G (p.Thr1782=) n.421-22264T>G | |
12 | g.6016198A>G | CA478100751 | VWF | c.5346T>C (p.Thr1782=) n.421-22264T>C | |
12 | g.6016198A>T | CA478100748 | VWF | c.5346T>A (p.Thr1782=) n.421-22264T>A | |
12 | g.6016199G>A | CA383495598 | VWF | c.5345C>T (p.Thr1782Ile) n.421-22265C>T | |
12 | g.6016199G>C | CA383495600 | VWF | c.5345C>G (p.Thr1782Ser) n.421-22265C>G | |
12 | g.6016199G>T | CA383495604 | VWF | c.5345C>A (p.Thr1782Asn) n.421-22265C>A | |
12 | g.6016200T>A | CA383495608 | VWF | c.5344A>T (p.Thr1782Ser) n.421-22266A>T | |
12 | g.6016200T>C | CA383495611 | VWF | c.5344A>G (p.Thr1782Ala) n.421-22266A>G | gnomAD v4 |
12 | g.6016200T>G | CA383495614 | VWF | c.5344A>C (p.Thr1782Pro) n.421-22266A>C | |
12 | g.6016201C>A | CA383495617 | VWF | c.5343G>T (p.Leu1781Phe) n.421-22267G>T | |
12 | g.6016201C>G | CA383495620 | VWF | c.5343G>C (p.Leu1781Phe) n.421-22267G>C | |
12 | g.6016201C>T | CA478100753 | VWF | c.5343G>A (p.Leu1781=) n.421-22267G>A | |
12 | g.6016202A= | CA2013871503 | VWF | c.5342T= (p.Leu1781=) n.421-22268T= | |
12 | g.6016202A>C | CA383495622 | VWF | c.5342T>G (p.Leu1781Trp) n.421-22268T>G | gnomAD v4 |
12 | g.6016202A>G | CA383495628 | VWF | c.5342T>C (p.Leu1781Ser) n.421-22268T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016202A>T | CA383495631 | VWF | c.5342T>A (p.Leu1781Ter) n.421-22268T>A | |
12 | g.6016203A>C | CA383495638 | VWF | c.5341T>G (p.Leu1781Val) n.421-22269T>G | COSMIC |
12 | g.6016203A>G | CA478100755 | VWF | c.5341T>C (p.Leu1781=) n.421-22269T>C | |
12 | g.6016203A>T | CA383495640 | VWF | c.5341T>A (p.Leu1781Met) n.421-22269T>A | |
12 | g.6016204G>A | CA478100756 | VWF | c.5340C>T (p.Tyr1780=) n.421-22270C>T | gnomAD v4 |
12 | g.6016204G>C | CA383495642 | VWF | c.5340C>G (p.Tyr1780Ter) n.421-22270C>G | |
12 | g.6016204G>T | CA383495645 | VWF | c.5340C>A (p.Tyr1780Ter) n.421-22270C>A | |
12 | g.6016205T>A | CA383495648 | VWF | c.5339A>T (p.Tyr1780Phe) n.421-22271A>T | |
12 | g.6016205T>C | CA383495649 | VWF | c.5339A>G (p.Tyr1780Cys) n.421-22271A>G | |
12 | g.6016205T>G | CA383495650 | VWF | c.5339A>C (p.Tyr1780Ser) n.421-22271A>C | |
12 | g.6016206A= | CA2013871504 | VWF | c.5338T= (p.Tyr1780=) n.421-22272T= | |
12 | g.6016206A>C | CA6402289 | VWF | c.5338T>G (p.Tyr1780Asp) n.421-22272T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016206A>G | CA243721 | VWF | c.5338T>C (p.Tyr1780His) n.421-22272T>C | ClinVar dbSNP |
12 | g.6016206A>T | CA383495652 | VWF | c.5338T>A (p.Tyr1780Asn) n.421-22272T>A | ClinVar dbSNP |
12 | g.6016207T>A | CA478100757 | VWF | c.5337A>T (p.Arg1779=) n.421-22273A>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016207T>C | CA478100758 | VWF | c.5337A>G (p.Arg1779=) n.421-22273A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016207T>G | CA478100759 | VWF | c.5337A>C (p.Arg1779=) n.421-22273A>C | |
12 | g.6016207T= | CA2013871505 | VWF | c.5337A= (p.Arg1779=) n.421-22273A= |