Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6016069A>G | CA2617229100 | VWF | c.5455+20T>C (n.5455+20T>C) n.421-22135T>C | gnomAD v4 |
12 | g.6016070C>T | CA2617229101 | VWF | c.5455+19G>A (n.5455+19G>A) n.421-22136G>A | gnomAD v4 |
12 | g.6016071T>C | CA2617229102 | VWF | c.5455+18A>G (n.5455+18A>G) n.421-22137A>G | gnomAD v4 |
12 | g.6016071T>G | CA690497635 | VWF | c.5455+18A>C (n.5455+18A>C) n.421-22137A>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016071T= | CA2013871446 | VWF | c.5455+18A= (n.5455+18A=) n.421-22137A= | |
12 | g.6016072G>A | CA603099508 | VWF | c.5455+17C>T (n.5455+17C>T) n.421-22138C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016072G= | CA2013871447 | VWF | c.5455+17C= (n.5455+17C=) n.421-22138C= | |
12 | g.6016073T>C | CA2617229103 | VWF | c.5455+16A>G (n.5455+16A>G) n.421-22139A>G | gnomAD v4 |
12 | g.6016074A= | CA2013871448 | VWF | c.5455+15T= (n.5455+15T=) n.421-22140T= | |
12 | g.6016074A>G | CA6402273 | VWF | c.5455+15T>C (n.5455+15T>C) n.421-22140T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016075C= | CA2013871449 | VWF | c.5455+14G= (n.5455+14G=) n.421-22141G= | |
12 | g.6016075C>T | CA6402274 | VWF | c.5455+14G>A (n.5455+14G>A) n.421-22141G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016081A= | CA2013871451 | VWF | c.5455+8T= (n.5455+8T=) n.421-22147T= | |
12 | g.6016081A>T | CA2013871452 | VWF | c.5455+8T>A (n.5455+8T>A) n.421-22147T>A | dbSNP |
12 | g.6016081_6016082delinsAT | CA2013871450 | VWF | c.5455+7_5455+8delinsAT (n.5455+7_5455+8delinsAT) n.421-22148_421-22147delinsAT | |
12 | g.6016083del | CA690497640 | VWF | c.5455+7del (n.5455+7del) n.421-22148del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016086T>C | CA6402275 | VWF | c.5455+3A>G (n.5455+3A>G) n.421-22152A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016086T= | CA2013871453 | VWF | c.5455+3A= (n.5455+3A=) n.421-22152A= | |
12 | g.6016087A>C | CA383494771 | VWF | c.5455+2T>G (n.5455+2T>G) n.421-22153T>G | |
12 | g.6016087A>G | CA383494775 | VWF | c.5455+2T>C (n.5455+2T>C) n.421-22153T>C | ClinVar dbSNP gnomAD v4 |
12 | g.6016087A>T | CA383494778 | VWF | c.5455+2T>A (n.5455+2T>A) n.421-22153T>A | |
12 | g.6016088C>A | CA383494782 | VWF | c.5455+1G>T (n.5455+1G>T) n.421-22154G>T | |
12 | g.6016088C>G | CA383494783 | VWF | c.5455+1G>C (n.5455+1G>C) n.421-22154G>C | |
12 | g.6016088C>T | CA383494784 | VWF | c.5455+1G>A (n.5455+1G>A) n.421-22154G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6016089T>A | CA383494786 | VWF | c.5455A>T (p.Arg1819Ter) n.421-22155A>T | |
12 | g.6016089T>C | CA383494789 | VWF | c.5455A>G (p.Arg1819Gly) n.421-22155A>G | |
12 | g.6016089T>G | CA478100637 | VWF | c.5455A>C (p.Arg1819=) n.421-22155A>C | |
12 | g.6016091_6016093del | CA2617229104 | VWF | c.5453_5455del (p.Asn1818del) n.421-22157_421-22155del | gnomAD v4 |
12 | g.6016090G>A | CA478100638 | VWF | c.5454C>T (p.Asn1818=) n.421-22156C>T | |
12 | g.6016090G>C | CA383494791 | VWF | c.5454C>G (p.Asn1818Lys) n.421-22156C>G | gnomAD v4 |
12 | g.6016090G>T | CA383494790 | VWF | c.5454C>A (p.Asn1818Lys) n.421-22156C>A | COSMIC |
12 | g.6016091T>A | CA383494794 | VWF | c.5453A>T (p.Asn1818Ile) n.421-22157A>T | |
12 | g.6016091T>C | CA228721 | VWF | c.5453A>G (p.Asn1818Ser) n.421-22157A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016091T>G | CA383494811 | VWF | c.5453A>C (p.Asn1818Thr) n.421-22157A>C | |
12 | g.6016091T= | CA2013871454 | VWF | c.5453A= (p.Asn1818=) n.421-22157A= | |
12 | g.6016092T>A | CA383494814 | VWF | c.5452A>T (p.Asn1818Tyr) n.421-22158A>T | |
12 | g.6016092T>C | CA383494817 | VWF | c.5452A>G (p.Asn1818Asp) n.421-22158A>G | |
12 | g.6016092T>G | CA383494818 | VWF | c.5452A>C (p.Asn1818His) n.421-22158A>C | |
12 | g.6016093G>A | CA478100641 | VWF | c.5451C>T (p.Ser1817=) n.421-22159C>T | |
12 | g.6016093G>C | CA478100639 | VWF | c.5451C>G (p.Ser1817=) n.421-22159C>G | gnomAD v4 |
12 | g.6016093G>T | CA478100640 | VWF | c.5451C>A (p.Ser1817=) n.421-22159C>A | |
12 | g.6016094G>A | CA383494837 | VWF | c.5450C>T (p.Ser1817Phe) n.421-22160C>T | gnomAD v4 |
12 | g.6016094G>C | CA383494823 | VWF | c.5450C>G (p.Ser1817Cys) n.421-22160C>G | |
12 | g.6016094G>T | CA383494825 | VWF | c.5450C>A (p.Ser1817Tyr) n.421-22160C>A | |
12 | g.6016095A= | CA2013871455 | VWF | c.5449T= (p.Ser1817=) n.421-22161T= | |
12 | g.6016095A>C | CA383494843 | VWF | c.5449T>G (p.Ser1817Ala) n.421-22161T>G | dbSNP |
12 | g.6016095A>G | CA383494853 | VWF | c.5449T>C (p.Ser1817Pro) n.421-22161T>C | |
12 | g.6016095A>T | CA383494856 | VWF | c.5449T>A (p.Ser1817Thr) n.421-22161T>A | |
12 | g.6016096C>A | CA383494859 | VWF | c.5448G>T (p.Arg1816Ser) n.421-22162G>T | gnomAD v4 |
12 | g.6016096C>G | CA383494862 | VWF | c.5448G>C (p.Arg1816Ser) n.421-22162G>C | |
12 | g.6016096C>T | CA478100642 | VWF | c.5448G>A (p.Arg1816=) n.421-22162G>A | gnomAD v4 |
12 | g.6016097C>A | CA383494869 | VWF | c.5447G>T (p.Arg1816Met) n.421-22163G>T | |
12 | g.6016097C= | CA2013871456 | VWF | c.5447G= (p.Arg1816=) n.421-22163G= | |
12 | g.6016097C>G | CA383494866 | VWF | c.5447G>C (p.Arg1816Thr) n.421-22163G>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016097C>T | CA383494867 | VWF | c.5447G>A (p.Arg1816Lys) n.421-22163G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016098T>A | CA383494872 | VWF | c.5446A>T (p.Arg1816Trp) n.421-22164A>T | |
12 | g.6016098T>C | CA383494874 | VWF | c.5446A>G (p.Arg1816Gly) n.421-22164A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016098T>G | CA478100643 | VWF | c.5446A>C (p.Arg1816=) n.421-22164A>C | gnomAD v4 |
12 | g.6016098T= | CA2013871457 | VWF | c.5446A= (p.Arg1816=) n.421-22164A= | |
12 | g.6016099G>A | CA478100644 | VWF | c.5445C>T (p.Ala1815=) n.421-22165C>T | |
12 | g.6016099G>C | CA6402276 | VWF | c.5445C>G (p.Ala1815=) n.421-22165C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016099G= | CA2013871458 | VWF | c.5445C= (p.Ala1815=) n.421-22165C= | |
12 | g.6016099G>T | CA478100645 | VWF | c.5445C>A (p.Ala1815=) n.421-22165C>A | gnomAD v4 |
12 | g.6016100G>A | CA383494880 | VWF | c.5444C>T (p.Ala1815Val) n.421-22166C>T | |
12 | g.6016100G>C | CA383494887 | VWF | c.5444C>G (p.Ala1815Gly) n.421-22166C>G | |
12 | g.6016100G>T | CA383494890 | VWF | c.5444C>A (p.Ala1815Asp) n.421-22166C>A | |
12 | g.6016101C>A | CA383494893 | VWF | c.5443G>T (p.Ala1815Ser) n.421-22167G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016101C= | CA2013871459 | VWF | c.5443G= (p.Ala1815=) n.421-22167G= | |
12 | g.6016101C>G | CA383494896 | VWF | c.5443G>C (p.Ala1815Pro) n.421-22167G>C | |
12 | g.6016101C>T | CA6402277 | VWF | c.5443G>A (p.Ala1815Thr) n.421-22167G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016102G>A | CA6402278 | VWF | c.5442C>T (p.Ala1814=) n.421-22168C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6016102G>C | CA478100646 | VWF | c.5442C>G (p.Ala1814=) n.421-22168C>G | |
12 | g.6016102G= | CA2013871460 | VWF | c.5442C= (p.Ala1814=) n.421-22168C= | |
12 | g.6016102G>T | CA478100647 | VWF | c.5442C>A (p.Ala1814=) n.421-22168C>A | ClinVar dbSNP |
12 | g.6016103G>A | CA383494904 | VWF | c.5441C>T (p.Ala1814Val) n.421-22169C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016103G>C | CA383494905 | VWF | c.5441C>G (p.Ala1814Gly) n.421-22169C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016103G= | CA2013871461 | VWF | c.5441C= (p.Ala1814=) n.421-22169C= | |
12 | g.6016103G>T | CA383494907 | VWF | c.5441C>A (p.Ala1814Asp) n.421-22169C>A | |
12 | g.6016108_6016119del | CA2617229105 | VWF | c.5430_5441del (p.Ala1811_Ala1814del) n.421-22180_421-22169del | gnomAD v4 |
12 | g.6016104C>A | CA383494911 | VWF | c.5440G>T (p.Ala1814Ser) n.421-22170G>T | |
12 | g.6016104C>G | CA383494917 | VWF | c.5440G>C (p.Ala1814Pro) n.421-22170G>C | |
12 | g.6016104C>T | CA383494915 | VWF | c.5440G>A (p.Ala1814Thr) n.421-22170G>A | |
12 | g.6016105A>C | CA383494921 | VWF | c.5439T>G (p.Asp1813Glu) n.421-22171T>G | |
12 | g.6016105A>G | CA478100648 | VWF | c.5439T>C (p.Asp1813=) n.421-22171T>C | |
12 | g.6016105A>T | CA383494924 | VWF | c.5439T>A (p.Asp1813Glu) n.421-22171T>A | |
12 | g.6016106T>A | CA383494930 | VWF | c.5438A>T (p.Asp1813Val) n.421-22172A>T | |
12 | g.6016106T>C | CA383494933 | VWF | c.5438A>G (p.Asp1813Gly) n.421-22172A>G | dbSNP |
12 | g.6016106T>G | CA383494936 | VWF | c.5438A>C (p.Asp1813Ala) n.421-22172A>C | gnomAD v4 |
12 | g.6016106T= | CA2013871462 | VWF | c.5438A= (p.Asp1813=) n.421-22172A= | |
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 |