Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018479C>A | CA383498651 | VWF | c.4939G>T (p.Ala1647Ser) n.421-24545G>T | |
12 | g.6018479C= | CA2013872534 | VWF | c.4939G= (p.Ala1647=) n.421-24545G= | |
12 | g.6018479C>G | CA383498650 | VWF | c.4939G>C (p.Ala1647Pro) n.421-24545G>C | |
12 | g.6018479C>T | CA6402437 | VWF | c.4939G>A (p.Ala1647Thr) n.421-24545G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018480A>C | CA383498652 | VWF | c.4938T>G (p.Asn1646Lys) n.421-24546T>G | |
12 | g.6018480A>G | CA478494013 | VWF | c.4938T>C (p.Asn1646=) n.421-24546T>C | |
12 | g.6018480A>T | CA383498653 | VWF | c.4938T>A (p.Asn1646Lys) n.421-24546T>A | |
12 | g.6018481T>A | CA383498654 | VWF | c.4937A>T (p.Asn1646Ile) n.421-24547A>T | gnomAD v4 |
12 | g.6018481T>C | CA383498655 | VWF | c.4937A>G (p.Asn1646Ser) n.421-24547A>G | gnomAD v4 |
12 | g.6018481T>G | CA383498656 | VWF | c.4937A>C (p.Asn1646Thr) n.421-24547A>C | dbSNP |
12 | g.6018481T= | CA2013872535 | VWF | c.4937A= (p.Asn1646=) n.421-24547A= | |
12 | g.6018482T>A | CA383498657 | VWF | c.4936A>T (p.Asn1646Tyr) n.421-24548A>T | |
12 | g.6018482T>C | CA383498658 | VWF | c.4936A>G (p.Asn1646Asp) n.421-24548A>G | |
12 | g.6018482T>G | CA383498659 | VWF | c.4936A>C (p.Asn1646His) n.421-24548A>C | |
12 | g.6018483G>A | CA478494014 | VWF | c.4935C>T (p.Pro1645=) n.421-24549C>T | dbSNP |
12 | g.6018483G>C | CA478494015 | VWF | c.4935C>G (p.Pro1645=) n.421-24549C>G | |
12 | g.6018483G= | CA2013872536 | VWF | c.4935C= (p.Pro1645=) n.421-24549C= | |
12 | g.6018483G>T | CA478494016 | VWF | c.4935C>A (p.Pro1645=) n.421-24549C>A | |
12 | g.6018484G>A | CA383498660 | VWF | c.4934C>T (p.Pro1645Leu) n.421-24550C>T | gnomAD v4 |
12 | g.6018484G>C | CA383498661 | VWF | c.4934C>G (p.Pro1645Arg) n.421-24550C>G | |
12 | g.6018484G= | CA2013872537 | VWF | c.4934C= (p.Pro1645=) n.421-24550C= | |
12 | g.6018484G>T | CA383498662 | VWF | c.4934C>A (p.Pro1645His) n.421-24550C>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018485G>A | CA383498664 | VWF | c.4933C>T (p.Pro1645Ser) n.421-24551C>T | gnomAD v4 |
12 | g.6018485G>C | CA383498665 | VWF | c.4933C>G (p.Pro1645Ala) n.421-24551C>G | dbSNP gnomAD v4 |
12 | g.6018485G= | CA2013872538 | VWF | c.4933C= (p.Pro1645=) n.421-24551C= | |
12 | g.6018485G>T | CA383498663 | VWF | c.4933C>A (p.Pro1645Thr) n.421-24551C>A | |
12 | g.6018486C>A | CA383498666 | VWF | c.4932G>T (p.Trp1644Cys) n.421-24552G>T | |
12 | g.6018486C>G | CA383498667 | VWF | c.4932G>C (p.Trp1644Cys) n.421-24552G>C | |
12 | g.6018486C>T | CA383498668 | VWF | c.4932G>A (p.Trp1644Ter) n.421-24552G>A | |
12 | g.6018487C>A | CA383498669 | VWF | c.4931G>T (p.Trp1644Leu) n.421-24553G>T | |
12 | g.6018487C= | CA2013872539 | VWF | c.4931G= (p.Trp1644=) n.421-24553G= | |
12 | g.6018487C>G | CA383498670 | VWF | c.4931G>C (p.Trp1644Ser) n.421-24553G>C | |
12 | g.6018487C>T | CA383498671 | VWF | c.4931G>A (p.Trp1644Ter) n.421-24553G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6018488A>C | CA383498672 | VWF | c.4930T>G (p.Trp1644Gly) n.421-24554T>G | |
12 | g.6018488A>G | CA383498673 | VWF | c.4930T>C (p.Trp1644Arg) n.421-24554T>C | |
12 | g.6018488A>T | CA383498674 | VWF | c.4930T>A (p.Trp1644Arg) n.421-24554T>A | |
12 | g.6018489G>A | CA478494017 | VWF | c.4929C>T (p.Gly1643=) n.421-24555C>T | dbSNP |
12 | g.6018489G>C | CA478494018 | VWF | c.4929C>G (p.Gly1643=) n.421-24555C>G | |
12 | g.6018489G= | CA2013872540 | VWF | c.4929C= (p.Gly1643=) n.421-24555C= | |
12 | g.6018489G>T | CA478494019 | VWF | c.4929C>A (p.Gly1643=) n.421-24555C>A | |
12 | g.6018490C>A | CA383498675 | VWF | c.4928G>T (p.Gly1643Val) n.421-24556G>T | |
12 | g.6018490C>G | CA383498676 | VWF | c.4928G>C (p.Gly1643Ala) n.421-24556G>C | |
12 | g.6018490C>T | CA383498677 | VWF | c.4928G>A (p.Gly1643Asp) n.421-24556G>A | |
12 | g.6018491C>A | CA383498678 | VWF | c.4927G>T (p.Gly1643Cys) n.421-24557G>T | |
12 | g.6018491C= | CA2013872541 | VWF | c.4927G= (p.Gly1643=) n.421-24557G= | |
12 | g.6018491C>G | CA383498679 | VWF | c.4927G>C (p.Gly1643Arg) n.421-24557G>C | |
12 | g.6018491C>T | CA10604006 | VWF | c.4927G>A (p.Gly1643Ser) n.421-24557G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.6018492A= | CA2013872542 | VWF | c.4926T= (p.Ile1642=) n.421-24558T= | |
12 | g.6018492A>C | CA383498680 | VWF | c.4926T>G (p.Ile1642Met) n.421-24558T>G | |
12 | g.6018492A>G | CA10604005 | VWF | c.4926T>C (p.Ile1642=) n.421-24558T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018492A>T | CA478494020 | VWF | c.4926T>A (p.Ile1642=) n.421-24558T>A | |
12 | g.6018493A= | CA2013872543 | VWF | c.4925T= (p.Ile1642=) n.421-24559T= | |
12 | g.6018493A>C | CA383498681 | VWF | c.4925T>G (p.Ile1642Ser) n.421-24559T>G | |
12 | g.6018493A>G | CA6402438 | VWF | c.4925T>C (p.Ile1642Thr) n.421-24559T>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6018493A>T | CA383498682 | VWF | c.4925T>A (p.Ile1642Asn) n.421-24559T>A | |
12 | g.6018494T>A | CA383498685 | VWF | c.4924A>T (p.Ile1642Phe) n.421-24560A>T | |
12 | g.6018494T>C | CA383498683 | VWF | c.4924A>G (p.Ile1642Val) n.421-24560A>G | |
12 | g.6018494T>G | CA383498684 | VWF | c.4924A>C (p.Ile1642Leu) n.421-24560A>C | |
12 | g.6018495C>A | CA383498686 | VWF | c.4923G>T (p.Arg1641Ser) n.421-24561G>T | |
12 | g.6018495C= | CA2013872544 | VWF | c.4923G= (p.Arg1641=) n.421-24561G= | |
12 | g.6018495C>G | CA383498687 | VWF | c.4923G>C (p.Arg1641Ser) n.421-24561G>C | |
12 | g.6018495C>T | CA6402439 | VWF | c.4923G>A (p.Arg1641=) n.421-24561G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018496C>A | CA383498688 | VWF | c.4922G>T (p.Arg1641Met) n.421-24562G>T | COSMIC |
12 | g.6018496C= | CA2013872545 | VWF | c.4922G= (p.Arg1641=) n.421-24562G= | |
12 | g.6018496C>G | CA383498689 | VWF | c.4922G>C (p.Arg1641Thr) n.421-24562G>C | |
12 | g.6018496C>T | CA383498690 | VWF | c.4922G>A (p.Arg1641Lys) n.421-24562G>A | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.6018497T>A | CA383498691 | VWF | c.4921A>T (p.Arg1641Trp) n.421-24563A>T | |
12 | g.6018497T>C | CA383498692 | VWF | c.4921A>G (p.Arg1641Gly) n.421-24563A>G | |
12 | g.6018497T>G | CA478494021 | VWF | c.4921A>C (p.Arg1641=) n.421-24563A>C | |
12 | g.6018498C>A | CA383498693 | VWF | c.4920G>T (p.Glu1640Asp) n.421-24564G>T | |
12 | g.6018498C>G | CA383498694 | VWF | c.4920G>C (p.Glu1640Asp) n.421-24564G>C | |
12 | g.6018498C>T | CA478494022 | VWF | c.4920G>A (p.Glu1640=) n.421-24564G>A | |
12 | g.6018499T>A | CA383498695 | VWF | c.4919A>T (p.Glu1640Val) n.421-24565A>T | |
12 | g.6018499T>C | CA383498696 | VWF | c.4919A>G (p.Glu1640Gly) n.421-24565A>G | |
12 | g.6018499T>G | CA383498697 | VWF | c.4919A>C (p.Glu1640Ala) n.421-24565A>C | |
12 | g.6018500C>A | CA383498698 | VWF | c.4918G>T (p.Glu1640Ter) n.421-24566G>T | |
12 | g.6018500C>G | CA383498699 | VWF | c.4918G>C (p.Glu1640Gln) n.421-24566G>C | |
12 | g.6018500C>T | CA383498700 | VWF | c.4918G>A (p.Glu1640Lys) n.421-24566G>A | |
12 | g.6018501C>A | CA478494023 | VWF | c.4917G>T (p.Leu1639=) n.421-24567G>T | |
12 | g.6018501C= | CA2013872546 | VWF | c.4917G= (p.Leu1639=) n.421-24567G= | |
12 | g.6018501C>G | CA478494024 | VWF | c.4917G>C (p.Leu1639=) n.421-24567G>C | |
12 | g.6018501C>T | CA6402440 | VWF | c.4917G>A (p.Leu1639=) n.421-24567G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018502A= | CA2013872547 | VWF | c.4916T= (p.Leu1639=) n.421-24568T= | |
12 | g.6018502A>C | CA383498701 | VWF | c.4916T>G (p.Leu1639Arg) n.421-24568T>G | |
12 | g.6018502A>G | CA228678 | VWF | c.4916T>C (p.Leu1639Pro) n.421-24568T>C | ClinVar dbSNP |
12 | g.6018502A>T | CA383498702 | VWF | c.4916T>A (p.Leu1639Gln) n.421-24568T>A | |
12 | g.6018503G>A | CA478494025 | VWF | c.4915C>T (p.Leu1639=) n.421-24569C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018503G>C | CA383498703 | VWF | c.4915C>G (p.Leu1639Val) n.421-24569C>G | |
12 | g.6018503G= | CA2013872548 | VWF | c.4915C= (p.Leu1639=) n.421-24569C= | |
12 | g.6018503G>T | CA383498704 | VWF | c.4915C>A (p.Leu1639Met) n.421-24569C>A | |
12 | g.6018504C>A | CA383498706 | VWF | c.4914G>T (p.Glu1638Asp) n.421-24570G>T | gnomAD v4 |
12 | g.6018504C>G | CA383498705 | VWF | c.4914G>C (p.Glu1638Asp) n.421-24570G>C | gnomAD v4 |
12 | g.6018504C>T | CA478494026 | VWF | c.4914G>A (p.Glu1638=) n.421-24570G>A | |
12 | g.6018505T>A | CA383498707 | VWF | c.4913A>T (p.Glu1638Val) n.421-24571A>T | |
12 | g.6018505T>C | CA383498708 | VWF | c.4913A>G (p.Glu1638Gly) n.421-24571A>G | |
12 | g.6018505T>G | CA383498709 | VWF | c.4913A>C (p.Glu1638Ala) n.421-24571A>C | |
12 | g.6018505_6018526delinsCAAT | CA2695196767 | VWF | c.4892_4913delinsATTG (p.Gly1631_Glu1638delinsAspTrp) n.421-24592_421-24571delinsATTG | |
12 | g.6018506C>A | CA383498710 | VWF | c.4912G>T (p.Glu1638Ter) n.421-24572G>T | |
12 | g.6018506C= | CA2013872549 | VWF | c.4912G= (p.Glu1638=) n.421-24572G= | |
12 | g.6018506C>G | CA232297755 | VWF | c.4912G>C (p.Glu1638Gln) n.421-24572G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018506C>T | CA228676 | VWF | c.4912G>A (p.Glu1638Lys) n.421-24572G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6018507C>A | CA383498712 | VWF | c.4911G>T (p.Gln1637His) n.421-24573G>T | |
12 | g.6018507C>G | CA383498711 | VWF | c.4911G>C (p.Gln1637His) n.421-24573G>C | |
12 | g.6018507C>T | CA478494027 | VWF | c.4911G>A (p.Gln1637=) n.421-24573G>A | |
12 | g.6018508T>A | CA383498713 | VWF | c.4910A>T (p.Gln1637Leu) n.421-24574A>T | |
12 | g.6018508T>C | CA383498714 | VWF | c.4910A>G (p.Gln1637Arg) n.421-24574A>G | |
12 | g.6018508T>G | CA383498715 | VWF | c.4910A>C (p.Gln1637Pro) n.421-24574A>C | gnomAD v4 |
12 | g.6018509G>A | CA383498716 | VWF | c.4909C>T (p.Gln1637Ter) n.421-24575C>T | |
12 | g.6018509G>C | CA383498717 | VWF | c.4909C>G (p.Gln1637Glu) n.421-24575C>G | |
12 | g.6018509G>T | CA383498718 | VWF | c.4909C>A (p.Gln1637Lys) n.421-24575C>A | gnomAD v4 |
12 | g.6018510C>A | CA478494028 | VWF | c.4908G>T (p.Val1636=) n.421-24576G>T | |
12 | g.6018510C>G | CA478494029 | VWF | c.4908G>C (p.Val1636=) n.421-24576G>C | |
12 | g.6018510C>T | CA478494030 | VWF | c.4908G>A (p.Val1636=) n.421-24576G>A | |
12 | g.6018511A= | CA2013872550 | VWF | c.4907T= (p.Val1636=) n.421-24577T= | |
12 | g.6018511A>C | CA383498719 | VWF | c.4907T>G (p.Val1636Gly) n.421-24577T>G | |
12 | g.6018511A>G | CA383498721 | VWF | c.4907T>C (p.Val1636Ala) n.421-24577T>C | gnomAD v4 |
12 | g.6018511A>T | CA383498720 | VWF | c.4907T>A (p.Val1636Glu) n.421-24577T>A | |
12 | g.6018512C>A | CA383498722 | VWF | c.4906G>T (p.Val1636Leu) n.421-24578G>T | |
12 | g.6018512C= | CA2013872551 | VWF | c.4906G= (p.Val1636=) n.421-24578G= | |
12 | g.6018512C>G | CA383498723 | VWF | c.4906G>C (p.Val1636Leu) n.421-24578G>C | gnomAD v4 |
12 | g.6018512C>T | CA6402441 | VWF | c.4906G>A (p.Val1636Met) n.421-24578G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018513G>A | CA6402442 | VWF | c.4905C>T (p.Asn1635=) n.421-24579C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018513G>C | CA383498724 | VWF | c.4905C>G (p.Asn1635Lys) n.421-24579C>G | |
12 | g.6018513G= | CA2013872552 | VWF | c.4905C= (p.Asn1635=) n.421-24579C= | |
12 | g.6018513G>T | CA383498725 | VWF | c.4905C>A (p.Asn1635Lys) n.421-24579C>A | |
12 | g.6018514T>A | CA6402443 | VWF | c.4904A>T (p.Asn1635Ile) n.421-24580A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018514T>C | CA383498726 | VWF | c.4904A>G (p.Asn1635Ser) n.421-24580A>G | |
12 | g.6018514T>G | CA383498727 | VWF | c.4904A>C (p.Asn1635Thr) n.421-24580A>C | |
12 | g.6018514T= | CA2013872553 | VWF | c.4904A= (p.Asn1635=) n.421-24580A= | |
12 | g.6018515T>A | CA383498728 | VWF | c.4903A>T (p.Asn1635Tyr) n.421-24581A>T | |
12 | g.6018515T>C | CA383498729 | VWF | c.4903A>G (p.Asn1635Asp) n.421-24581A>G | |
12 | g.6018515T>G | CA383498730 | VWF | c.4903A>C (p.Asn1635His) n.421-24581A>C | |
12 | g.6018516G>A | CA478494031 | VWF | c.4902C>T (p.Ala1634=) n.421-24582C>T | |
12 | g.6018516G>C | CA478494032 | VWF | c.4902C>G (p.Ala1634=) n.421-24582C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018516G= | CA2013872554 | VWF | c.4902C= (p.Ala1634=) n.421-24582C= | |
12 | g.6018516G>T | CA478494033 | VWF | c.4902C>A (p.Ala1634=) n.421-24582C>A | |
12 | g.6018517G>A | CA383498733 | VWF | c.4901C>T (p.Ala1634Val) n.421-24583C>T | gnomAD v4 |
12 | g.6018517G>C | CA383498731 | VWF | c.4901C>G (p.Ala1634Gly) n.421-24583C>G | |
12 | g.6018517G>T | CA383498732 | VWF | c.4901C>A (p.Ala1634Asp) n.421-24583C>A | |
12 | g.6018518C>A | CA383498734 | VWF | c.4900G>T (p.Ala1634Ser) n.421-24584G>T | |
12 | g.6018518C>G | CA383498735 | VWF | c.4900G>C (p.Ala1634Pro) n.421-24584G>C | |
12 | g.6018518C>T | CA383498736 | VWF | c.4900G>A (p.Ala1634Thr) n.421-24584G>A | |
12 | g.6018519A>C | CA383498737 | VWF | c.4899T>G (p.Asn1633Lys) n.421-24585T>G | |
12 | g.6018519A>G | CA478494034 | VWF | c.4899T>C (p.Asn1633=) n.421-24585T>C | |
12 | g.6018519A>T | CA383498738 | VWF | c.4899T>A (p.Asn1633Lys) n.421-24585T>A | |
12 | g.6018520T>A | CA383498739 | VWF | c.4898A>T (p.Asn1633Ile) n.421-24586A>T | |
12 | g.6018520T>C | CA383498740 | VWF | c.4898A>G (p.Asn1633Ser) n.421-24586A>G | |
12 | g.6018520T>G | CA383498741 | VWF | c.4898A>C (p.Asn1633Thr) n.421-24586A>C | gnomAD v4 |
12 | g.6018521T>A | CA383498742 | VWF | c.4897A>T (p.Asn1633Tyr) n.421-24587A>T | |
12 | g.6018521T>C | CA383498743 | VWF | c.4897A>G (p.Asn1633Asp) n.421-24587A>G | |
12 | g.6018521T>G | CA383498744 | VWF | c.4897A>C (p.Asn1633His) n.421-24587A>C | |
12 | g.6018522_6018536del | CA2695216026 | VWF | c.4883_4897del (p.Ile1628_Pro1632del) n.421-24601_421-24587del | |
12 | g.6018522A>C | CA478494035 | VWF | c.4896T>G (p.Pro1632=) n.421-24588T>G | |
12 | g.6018522A>G | CA478494036 | VWF | c.4896T>C (p.Pro1632=) n.421-24588T>C | |
12 | g.6018522A>T | CA478494037 | VWF | c.4896T>A (p.Pro1632=) n.421-24588T>A | |
12 | g.6018523G>A | CA383498747 | VWF | c.4895C>T (p.Pro1632Leu) n.421-24589C>T | |
12 | g.6018523G>C | CA383498746 | VWF | c.4895C>G (p.Pro1632Arg) n.421-24589C>G | |
12 | g.6018523G= | CA2013872555 | VWF | c.4895C= (p.Pro1632=) n.421-24589C= | |
12 | g.6018523G>T | CA383498745 | VWF | c.4895C>A (p.Pro1632His) n.421-24589C>A | dbSNP gnomAD v4 |
12 | g.6018524G>A | CA383498748 | VWF | c.4894C>T (p.Pro1632Ser) n.421-24590C>T | ClinVar |
12 | g.6018524G>C | CA383498750 | VWF | c.4894C>G (p.Pro1632Ala) n.421-24590C>G | |
12 | g.6018524G>T | CA383498749 | VWF | c.4894C>A (p.Pro1632Thr) n.421-24590C>A | |
12 | g.6018525G>A | CA478494040 | VWF | c.4893C>T (p.Gly1631=) n.421-24591C>T | gnomAD v4 |
12 | g.6018525G>C | CA478494038 | VWF | c.4893C>G (p.Gly1631=) n.421-24591C>G | |
12 | g.6018525G= | CA2013872556 | VWF | c.4893C= (p.Gly1631=) n.421-24591C= | |
12 | g.6018525G>T | CA478494039 | VWF | c.4893C>A (p.Gly1631=) n.421-24591C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018526C>A | CA383498751 | VWF | c.4892G>T (p.Gly1631Val) n.421-24592G>T | |
12 | g.6018526C>G | CA383498753 | VWF | c.4892G>C (p.Gly1631Ala) n.421-24592G>C | |
12 | g.6018526C>T | CA383498752 | VWF | c.4892G>A (p.Gly1631Asp) n.421-24592G>A | ClinVar dbSNP gnomAD v4 |
12 | g.6018527C>A | CA383498754 | VWF | c.4891G>T (p.Gly1631Cys) n.421-24593G>T | |
12 | g.6018527C>G | CA383498756 | VWF | c.4891G>C (p.Gly1631Arg) n.421-24593G>C | |
12 | g.6018527C>T | CA383498755 | VWF | c.4891G>A (p.Gly1631Ser) n.421-24593G>A | ClinVar |
12 | g.6018528C>A | CA478494041 | VWF | c.4890G>T (p.Val1630=) n.421-24594G>T | |
12 | g.6018528C>G | CA478494042 | VWF | c.4890G>C (p.Val1630=) n.421-24594G>C | |
12 | g.6018528C>T | CA478494043 | VWF | c.4890G>A (p.Val1630=) n.421-24594G>A | |
12 | g.6018529A= | CA2013872557 | VWF | c.4889T= (p.Val1630=) n.421-24595T= | |
12 | g.6018529A>C | CA383498757 | VWF | c.4889T>G (p.Val1630Gly) n.421-24595T>G | gnomAD v3 gnomAD v4 |
12 | g.6018529A>G | CA383498758 | VWF | c.4889T>C (p.Val1630Ala) n.421-24595T>C | |
12 | g.6018529A>T | CA228674 | VWF | c.4889T>A (p.Val1630Glu) n.421-24595T>A | ClinVar dbSNP |
12 | g.6018530C>A | CA383498759 | VWF | c.4888G>T (p.Val1630Leu) n.421-24596G>T | |
12 | g.6018530C>G | CA383498760 | VWF | c.4888G>C (p.Val1630Leu) n.421-24596G>C | |
12 | g.6018530C>T | CA383498761 | VWF | c.4888G>A (p.Val1630Met) n.421-24596G>A | gnomAD v4 |
12 | g.6018531T>A | CA478494044 | VWF | c.4887A>T (p.Gly1629=) n.421-24597A>T | |
12 | g.6018531T>C | CA478494045 | VWF | c.4887A>G (p.Gly1629=) n.421-24597A>G | |
12 | g.6018531T>G | CA478494046 | VWF | c.4887A>C (p.Gly1629=) n.421-24597A>C | |
12 | g.6018531_6018532delinsTC | CA2013872558 | VWF | c.4886_4887delinsGA (p.Gly1629=) n.421-24598_421-24597delinsGA | |
12 | g.6018532C>A | CA383498762 | VWF | c.4886G>T (p.Gly1629Val) n.421-24598G>T | |
12 | g.6018532C>G | CA383498763 | VWF | c.4886G>C (p.Gly1629Ala) n.421-24598G>C | |
12 | g.6018532C>T | CA383498764 | VWF | c.4886G>A (p.Gly1629Glu) n.421-24598G>A | |
12 | g.6018533del | CA228673 | VWF | c.4886del (p.Gly1629GlufsTer?) n.421-24598del | ClinVar dbSNP |
12 | g.6018533C>A | CA383498766 | VWF | c.4885G>T (p.Gly1629Ter) n.421-24599G>T | |
12 | g.6018533C= | CA2013872559 | VWF | c.4885G= (p.Gly1629=) n.421-24599G= | |
12 | g.6018533C>G | CA383498765 | VWF | c.4885G>C (p.Gly1629Arg) n.421-24599G>C | ClinVar dbSNP |
12 | g.6018533C>T | CA228671 | VWF | c.4885G>A (p.Gly1629Arg) n.421-24599G>A | ClinVar dbSNP COSMIC |
12 | g.6018534A>C | CA383498767 | VWF | c.4884T>G (p.Ile1628Met) n.421-24600T>G | |
12 | g.6018534A>G | CA478494047 | VWF | c.4884T>C (p.Ile1628=) n.421-24600T>C | |
12 | g.6018534A>T | CA478494048 | VWF | c.4884T>A (p.Ile1628=) n.421-24600T>A | |
12 | g.6018535A= | CA2013872560 | VWF | c.4883T= (p.Ile1628=) n.421-24601T= | |
12 | g.6018535A>C | CA383498768 | VWF | c.4883T>G (p.Ile1628Ser) n.421-24601T>G | |
12 | g.6018535A>G | CA114115 | VWF | c.4883T>C (p.Ile1628Thr) n.421-24601T>C | ClinVar dbSNP gnomAD v4 |
12 | g.6018535A>T | CA383498769 | VWF | c.4883T>A (p.Ile1628Asn) n.421-24601T>A | ClinVar dbSNP |
12 | g.6018536T>A | CA383498770 | VWF | c.4882A>T (p.Ile1628Phe) n.421-24602A>T | |
12 | g.6018536T>C | CA383498771 | VWF | c.4882A>G (p.Ile1628Val) n.421-24602A>G | |
12 | g.6018536T>G | CA383498772 | VWF | c.4882A>C (p.Ile1628Leu) n.421-24602A>C | |
12 | g.6018537G>A | CA478494049 | VWF | c.4881C>T (p.Pro1627=) n.421-24603C>T | gnomAD v4 |
12 | g.6018537G>C | CA478494050 | VWF | c.4881C>G (p.Pro1627=) n.421-24603C>G | |
12 | g.6018537G>T | CA478494051 | VWF | c.4881C>A (p.Pro1627=) n.421-24603C>A | |
12 | g.6018538G>A | CA383498773 | VWF | c.4880C>T (p.Pro1627Leu) n.421-24604C>T | |
12 | g.6018538G>C | CA383498774 | VWF | c.4880C>G (p.Pro1627Arg) n.421-24604C>G | |
12 | g.6018538G= | CA2013872561 | VWF | c.4880C= (p.Pro1627=) n.421-24604C= | |
12 | g.6018538G>T | CA228669 | VWF | c.4880C>A (p.Pro1627His) n.421-24604C>A | ClinVar dbSNP |
12 | g.6018539G>A | CA383498778 | VWF | c.4879C>T (p.Pro1627Ser) n.421-24605C>T | dbSNP |
12 | g.6018539G>C | CA383498780 | VWF | c.4879C>G (p.Pro1627Ala) n.421-24605C>G | COSMIC |
12 | g.6018539G= | CA2013872562 | VWF | c.4879C= (p.Pro1627=) n.421-24605C= | |
12 | g.6018539G>T | CA383498776 | VWF | c.4879C>A (p.Pro1627Thr) n.421-24605C>A | |
12 | g.6018540C>A | CA478494052 | VWF | c.4878G>T (p.Val1626=) n.421-24606G>T | |
12 | g.6018540C= | CA2013872563 | VWF | c.4878G= (p.Val1626=) n.421-24606G= | |
12 | g.6018540C>G | CA478494053 | VWF | c.4878G>C (p.Val1626=) n.421-24606G>C | |
12 | g.6018540C>T | CA478494054 | VWF | c.4878G>A (p.Val1626=) n.421-24606G>A | dbSNP |
12 | g.6018541A>C | CA383498781 | VWF | c.4877T>G (p.Val1626Gly) n.421-24607T>G | |
12 | g.6018541A>G | CA383498783 | VWF | c.4877T>C (p.Val1626Ala) n.421-24607T>C | |
12 | g.6018541A>T | CA383498785 | VWF | c.4877T>A (p.Val1626Glu) n.421-24607T>A | |
12 | g.6018542C>A | CA6402444 | VWF | c.4876G>T (p.Val1626Leu) n.421-24608G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018542C= | CA2013872564 | VWF | c.4876G= (p.Val1626=) n.421-24608G= | |
12 | g.6018542C>G | CA383498788 | VWF | c.4876G>C (p.Val1626Leu) n.421-24608G>C | |
12 | g.6018542C>T | CA383498789 | VWF | c.4876G>A (p.Val1626Met) n.421-24608G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018543C>A | CA478494055 | VWF | c.4875G>T (p.Val1625=) n.421-24609G>T | |
12 | g.6018543C>G | CA478494056 | VWF | c.4875G>C (p.Val1625=) n.421-24609G>C | |
12 | g.6018543C>T | CA478494057 | VWF | c.4875G>A (p.Val1625=) n.421-24609G>A | |
12 | g.6018544A>C | CA383498791 | VWF | c.4874T>G (p.Val1625Gly) n.421-24610T>G | |
12 | g.6018544A>G | CA383498792 | VWF | c.4874T>C (p.Val1625Ala) n.421-24610T>C | |
12 | g.6018544A>T | CA383498794 | VWF | c.4874T>A (p.Val1625Glu) n.421-24610T>A | |
12 | g.6018545C>A | CA383498796 | VWF | c.4873G>T (p.Val1625Leu) n.421-24611G>T | |
12 | g.6018545C= | CA2013872565 | VWF | c.4873G= (p.Val1625=) n.421-24611G= | |
12 | g.6018545C>G | CA383498798 | VWF | c.4873G>C (p.Val1625Leu) n.421-24611G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018545C>T | CA383498800 | VWF | c.4873G>A (p.Val1625Met) n.421-24611G>A | |
12 | g.6018546C>A | CA383498804 | VWF | c.4872G>T (p.Gln1624His) n.421-24612G>T | |
12 | g.6018546C>G | CA383498802 | VWF | c.4872G>C (p.Gln1624His) n.421-24612G>C | |
12 | g.6018546C>T | CA478501772 | VWF | c.4872G>A (p.Gln1624=) n.421-24612G>A | |
12 | g.6018547T>A | CA383498806 | VWF | c.4871A>T (p.Gln1624Leu) n.421-24613A>T | |
12 | g.6018547T>C | CA383498808 | VWF | c.4871A>G (p.Gln1624Arg) n.421-24613A>G | |
12 | g.6018547T>G | CA383498810 | VWF | c.4871A>C (p.Gln1624Pro) n.421-24613A>C | |
12 | g.6018548G>A | CA383498812 | VWF | c.4870C>T (p.Gln1624Ter) n.421-24614C>T | COSMIC |
12 | g.6018548G>C | CA383498814 | VWF | c.4870C>G (p.Gln1624Glu) n.421-24614C>G | |
12 | g.6018548G>T | CA383498816 | VWF | c.4870C>A (p.Gln1624Lys) n.421-24614C>A | |
12 | g.6018549G>A | CA478501780 | VWF | c.4869C>T (p.Ile1623=) n.421-24615C>T | gnomAD v4 COSMIC |
12 | g.6018549G>C | CA383498818 | VWF | c.4869C>G (p.Ile1623Met) n.421-24615C>G | |
12 | g.6018549G= | CA2013872566 | VWF | c.4869C= (p.Ile1623=) n.421-24615C= | |
12 | g.6018549G>T | CA6402445 | VWF | c.4869C>A (p.Ile1623=) n.421-24615C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018550A>C | CA383498821 | VWF | c.4868T>G (p.Ile1623Ser) n.421-24616T>G | |
12 | g.6018550A>G | CA383498824 | VWF | c.4868T>C (p.Ile1623Thr) n.421-24616T>C | |
12 | g.6018550A>T | CA383498825 | VWF | c.4868T>A (p.Ile1623Asn) n.421-24616T>A | |
12 | g.6018551T>A | CA383498827 | VWF | c.4867A>T (p.Ile1623Phe) n.421-24617A>T | |
12 | g.6018551T>C | CA383498829 | VWF | c.4867A>G (p.Ile1623Val) n.421-24617A>G | |
12 | g.6018551T>G | CA383498831 | VWF | c.4867A>C (p.Ile1623Leu) n.421-24617A>C | |
12 | g.6018553_6018570del | CA2580086236 | VWF | c.4850_4867del (p.Lys1617_Asp1622del) n.421-24634_421-24617del | ClinVar dbSNP |
12 | g.6018552G>A | CA478501788 | VWF | c.4866C>T (p.Asp1622=) n.421-24618C>T | |
12 | g.6018552G>C | CA383498833 | VWF | c.4866C>G (p.Asp1622Glu) n.421-24618C>G | gnomAD v4 |
12 | g.6018552G>T | CA383498835 | VWF | c.4866C>A (p.Asp1622Glu) n.421-24618C>A | |
12 | g.6018553T>A | CA383498837 | VWF | c.4865A>T (p.Asp1622Val) n.421-24619A>T | |
12 | g.6018553T>C | CA383498840 | VWF | c.4865A>G (p.Asp1622Gly) n.421-24619A>G | |
12 | g.6018553T>G | CA383498838 | VWF | c.4865A>C (p.Asp1622Ala) n.421-24619A>C | |
12 | g.6018554C>A | CA383498843 | VWF | c.4864G>T (p.Asp1622Tyr) n.421-24620G>T | |
12 | g.6018554C>G | CA383498844 | VWF | c.4864G>C (p.Asp1622His) n.421-24620G>C | |
12 | g.6018554C>T | CA383498846 | VWF | c.4864G>A (p.Asp1622Asn) n.421-24620G>A | |
12 | g.6018555T>A | CA478501799 | VWF | c.4863A>T (p.Gly1621=) n.421-24621A>T | |
12 | g.6018555T>C | CA478501798 | VWF | c.4863A>G (p.Gly1621=) n.421-24621A>G | |
12 | g.6018555T>G | CA478501796 | VWF | c.4863A>C (p.Gly1621=) n.421-24621A>C | |
12 | g.6018556C>A | CA383498847 | VWF | c.4862G>T (p.Gly1621Val) n.421-24622G>T | |
12 | g.6018556C>G | CA383498849 | VWF | c.4862G>C (p.Gly1621Ala) n.421-24622G>C | |
12 | g.6018556C>T | CA383498850 | VWF | c.4862G>A (p.Gly1621Glu) n.421-24622G>A | |
12 | g.6018557C>A | CA383498852 | VWF | c.4861G>T (p.Gly1621Ter) n.421-24623G>T | |
12 | g.6018557C= | CA2013872567 | VWF | c.4861G= (p.Gly1621=) n.421-24623G= | |
12 | g.6018557C>G | CA383498853 | VWF | c.4861G>C (p.Gly1621Arg) n.421-24623G>C | |
12 | g.6018557C>T | CA383498855 | VWF | c.4861G>A (p.Gly1621Arg) n.421-24623G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018558A= | CA2013872568 | VWF | c.4860T= (p.Pro1620=) n.421-24624T= | |
12 | g.6018558A>C | CA478501807 | VWF | c.4860T>G (p.Pro1620=) n.421-24624T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018558A>G | CA478501808 | VWF | c.4860T>C (p.Pro1620=) n.421-24624T>C | |
12 | g.6018558A>T | CA478501810 | VWF | c.4860T>A (p.Pro1620=) n.421-24624T>A | |
12 | g.6018559G>A | CA383498857 | VWF | c.4859C>T (p.Pro1620Leu) n.421-24625C>T | |
12 | g.6018559G>C | CA383498860 | VWF | c.4859C>G (p.Pro1620Arg) n.421-24625C>G | |
12 | g.6018559G= | CA2013872569 | VWF | c.4859C= (p.Pro1620=) n.421-24625C= | |
12 | g.6018559G>T | CA383498862 | VWF | c.4859C>A (p.Pro1620His) n.421-24625C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018560G>A | CA383498863 | VWF | c.4858C>T (p.Pro1620Ser) n.421-24626C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018560G>C | CA383498868 | VWF | c.4858C>G (p.Pro1620Ala) n.421-24626C>G | |
12 | g.6018560G= | CA2013872570 | VWF | c.4858C= (p.Pro1620=) n.421-24626C= | |
12 | g.6018560G>T | CA383498866 | VWF | c.4858C>A (p.Pro1620Thr) n.421-24626C>A | |
12 | g.6018561C>A | CA6402446 | VWF | c.4857G>T (p.Leu1619=) n.421-24627G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018561C= | CA2013872571 | VWF | c.4857G= (p.Leu1619=) n.421-24627G= | |
12 | g.6018561C>G | CA478501814 | VWF | c.4857G>C (p.Leu1619=) n.421-24627G>C | |
12 | g.6018561C>T | CA478501816 | VWF | c.4857G>A (p.Leu1619=) n.421-24627G>A | |
12 | g.6018562A>C | CA383498872 | VWF | c.4856T>G (p.Leu1619Arg) n.421-24628T>G | |
12 | g.6018562A>G | CA383498873 | VWF | c.4856T>C (p.Leu1619Pro) n.421-24628T>C | |
12 | g.6018562A>T | CA383498875 | VWF | c.4856T>A (p.Leu1619Gln) n.421-24628T>A | |
12 | g.6018563G>A | CA478501820 | VWF | c.4855C>T (p.Leu1619=) n.421-24629C>T | gnomAD v4 |
12 | g.6018563G>C | CA383498877 | VWF | c.4855C>G (p.Leu1619Val) n.421-24629C>G | |
12 | g.6018563G>T | CA383498879 | VWF | c.4855C>A (p.Leu1619Met) n.421-24629C>A | |
12 | g.6018564C>A | CA383498882 | VWF | c.4854G>T (p.Arg1618Ser) n.421-24630G>T | |
12 | g.6018564C= | CA2013872572 | VWF | c.4854G= (p.Arg1618=) n.421-24630G= | |
12 | g.6018564C>G | CA383498883 | VWF | c.4854G>C (p.Arg1618Ser) n.421-24630G>C | |
12 | g.6018564C>T | CA6402447 | VWF | c.4854G>A (p.Arg1618=) n.421-24630G>A | dbSNP ExAC gnomAD v2 |
12 | g.6018565C>A | CA383498888 | VWF | c.4853G>T (p.Arg1618Met) n.421-24631G>T | |
12 | g.6018565C>G | CA383498890 | VWF | c.4853G>C (p.Arg1618Thr) n.421-24631G>C | gnomAD v4 |
12 | g.6018565C>T | CA383498886 | VWF | c.4853G>A (p.Arg1618Lys) n.421-24631G>A | COSMIC |
12 | g.6018566T>A | CA383498892 | VWF | c.4852A>T (p.Arg1618Trp) n.421-24632A>T | |
12 | g.6018566T>C | CA383498894 | VWF | c.4852A>G (p.Arg1618Gly) n.421-24632A>G | |
12 | g.6018566T>G | CA478501828 | VWF | c.4852A>C (p.Arg1618=) n.421-24632A>C | |
12 | g.6018567C>A | CA383498895 | VWF | c.4851G>T (p.Lys1617Asn) n.421-24633G>T | |
12 | g.6018567C>G | CA383498897 | VWF | c.4851G>C (p.Lys1617Asn) n.421-24633G>C | |
12 | g.6018567C>T | CA478501833 | VWF | c.4851G>A (p.Lys1617=) n.421-24633G>A | gnomAD v4 |
12 | g.6018568T>A | CA383498900 | VWF | c.4850A>T (p.Lys1617Met) n.421-24634A>T | |
12 | g.6018568T>C | CA6402448 | VWF | c.4850A>G (p.Lys1617Arg) n.421-24634A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018568T>G | CA383498902 | VWF | c.4850A>C (p.Lys1617Thr) n.421-24634A>C | |
12 | g.6018568T= | CA2013872573 | VWF | c.4850A= (p.Lys1617=) n.421-24634A= | |
12 | g.6018569T>A | CA383498905 | VWF | c.4849A>T (p.Lys1617Ter) n.421-24635A>T | |
12 | g.6018569T>C | CA383498906 | VWF | c.4849A>G (p.Lys1617Glu) n.421-24635A>G | |
12 | g.6018569T>G | CA383498908 | VWF | c.4849A>C (p.Lys1617Gln) n.421-24635A>C | |
12 | g.6018570G>A | CA6402449 | VWF | c.4848C>T (p.Ile1616=) n.421-24636C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6018570G>C | CA383498910 | VWF | c.4848C>G (p.Ile1616Met) n.421-24636C>G | |
12 | g.6018570G= | CA2013872574 | VWF | c.4848C= (p.Ile1616=) n.421-24636C= | |
12 | g.6018570G>T | CA478501848 | VWF | c.4848C>A (p.Ile1616=) n.421-24636C>A | |
12 | g.6018571A= | CA2013872575 | VWF | c.4847T= (p.Ile1616=) n.421-24637T= | |
12 | g.6018571A>C | CA383498914 | VWF | c.4847T>G (p.Ile1616Ser) n.421-24637T>G | |
12 | g.6018571A>G | CA383498911 | VWF | c.4847T>C (p.Ile1616Thr) n.421-24637T>C | |
12 | g.6018571A>T | CA232297756 | VWF | c.4847T>A (p.Ile1616Asn) n.421-24637T>A | dbSNP |
12 | g.6018572T>A | CA383498916 | VWF | c.4846A>T (p.Ile1616Phe) n.421-24638A>T | |
12 | g.6018572T>C | CA383498918 | VWF | c.4846A>G (p.Ile1616Val) n.421-24638A>G | |
12 | g.6018572T>G | CA383498920 | VWF | c.4846A>C (p.Ile1616Leu) n.421-24638A>C | dbSNP |
12 | g.6018572T= | CA2013872576 | VWF | c.4846A= (p.Ile1616=) n.421-24638A= | |
12 | g.6018573C>A | CA383498922 | VWF | c.4845G>T (p.Glu1615Asp) n.421-24639G>T | |
12 | g.6018573C>G | CA383498923 | VWF | c.4845G>C (p.Glu1615Asp) n.421-24639G>C | |
12 | g.6018573C>T | CA478501857 | VWF | c.4845G>A (p.Glu1615=) n.421-24639G>A | gnomAD v4 |
12 | g.6018574T>A | CA383498926 | VWF | c.4844A>T (p.Glu1615Val) n.421-24640A>T | |
12 | g.6018574T>C | CA383498927 | VWF | c.4844A>G (p.Glu1615Gly) n.421-24640A>G | |
12 | g.6018574T>G | CA383498929 | VWF | c.4844A>C (p.Glu1615Ala) n.421-24640A>C | |
12 | g.6018575C>A | CA383498932 | VWF | c.4843G>T (p.Glu1615Ter) n.421-24641G>T | |
12 | g.6018575C= | CA2013872577 | VWF | c.4843G= (p.Glu1615=) n.421-24641G= | |
12 | g.6018575C>G | CA383498933 | VWF | c.4843G>C (p.Glu1615Gln) n.421-24641G>C | |
12 | g.6018575C>T | CA232297757 | VWF | c.4843G>A (p.Glu1615Lys) n.421-24641G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018576A= | CA2013872578 | VWF | c.4842T= (p.Asp1614=) n.421-24642T= | |
12 | g.6018576A>C | CA383498936 | VWF | c.4842T>G (p.Asp1614Glu) n.421-24642T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018576A>G | CA478501864 | VWF | c.4842T>C (p.Asp1614=) n.421-24642T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018576A>T | CA383498939 | VWF | c.4842T>A (p.Asp1614Glu) n.421-24642T>A | |
12 | g.6018577T>A | CA383498941 | VWF | c.4841A>T (p.Asp1614Val) n.421-24643A>T | |
12 | g.6018577T>C | CA228667 | VWF | c.4841A>G (p.Asp1614Gly) n.421-24643A>G | ClinVar dbSNP gnomAD v4 |
12 | g.6018577T>G | CA383498940 | VWF | c.4841A>C (p.Asp1614Ala) n.421-24643A>C | |
12 | g.6018577T= | CA2013872579 | VWF | c.4841A= (p.Asp1614=) n.421-24643A= | |
12 | g.6018578C>A | CA383498943 | VWF | c.4840G>T (p.Asp1614Tyr) n.421-24644G>T | |
12 | g.6018578C= | CA2013872580 | VWF | c.4840G= (p.Asp1614=) n.421-24644G= | |
12 | g.6018578C>G | CA383498942 | VWF | c.4840G>C (p.Asp1614His) n.421-24644G>C | |
12 | g.6018578C>T | CA383498944 | VWF | c.4840G>A (p.Asp1614Asn) n.421-24644G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018579A= | CA2013872581 | VWF | c.4839T= (p.Ser1613=) n.421-24645T= | |
12 | g.6018579A>C | CA478501874 | VWF | c.4839T>G (p.Ser1613=) n.421-24645T>G | |
12 | g.6018579A>G | CA478501870 | VWF | c.4839T>C (p.Ser1613=) n.421-24645T>C | gnomAD v4 |
12 | g.6018579A>T | CA478501872 | VWF | c.4839T>A (p.Ser1613=) n.421-24645T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |