Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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= | |
12 | g.6016208C>A | CA383495656 | VWF | c.5336G>T (p.Arg1779Leu) n.421-22274G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016208C= | CA2013871506 | VWF | c.5336G= (p.Arg1779=) n.421-22274G= | |
12 | g.6016208C>G | CA383495660 | VWF | c.5336G>C (p.Arg1779Pro) n.421-22274G>C | |
12 | g.6016208C>T | CA6402290 | VWF | c.5336G>A (p.Arg1779Gln) n.421-22274G>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.6016209G>A | CA228713 | VWF | c.5335C>T (p.Arg1779Ter) n.421-22275C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016209G>C | CA383495663 | VWF | c.5335C>G (p.Arg1779Gly) n.421-22275C>G | |
12 | g.6016209G= | CA2013871507 | VWF | c.5335C= (p.Arg1779=) n.421-22275C= | |
12 | g.6016209G>T | CA478100762 | VWF | c.5335C>A (p.Arg1779=) n.421-22275C>A | |
12 | g.6016210C>A | CA478100764 | VWF | c.5334G>T (p.Val1778=) n.421-22276G>T | |
12 | g.6016210C>G | CA478100766 | VWF | c.5334G>C (p.Val1778=) n.421-22276G>C | |
12 | g.6016210C>T | CA478100765 | VWF | c.5334G>A (p.Val1778=) n.421-22276G>A | |
12 | g.6016211A= | CA2013871508 | VWF | c.5333T= (p.Val1778=) n.421-22277T= | |
12 | g.6016211A>C | CA383495665 | VWF | c.5333T>G (p.Val1778Gly) n.421-22277T>G | |
12 | g.6016211A>G | CA383495666 | VWF | c.5333T>C (p.Val1778Ala) n.421-22277T>C | |
12 | g.6016211A>T | CA383495667 | VWF | c.5333T>A (p.Val1778Glu) n.421-22277T>A | dbSNP gnomAD v4 |
12 | g.6016212C>A | CA383495670 | VWF | c.5332G>T (p.Val1778Leu) n.421-22278G>T | |
12 | g.6016212C= | CA2013871509 | VWF | c.5332G= (p.Val1778=) n.421-22278G= | |
12 | g.6016212C>G | CA383495672 | VWF | c.5332G>C (p.Val1778Leu) n.421-22278G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016212C>T | CA383495674 | VWF | c.5332G>A (p.Val1778Met) n.421-22278G>A | |
12 | g.6016213A>C | CA478100767 | VWF | c.5331T>G (p.Ala1777=) n.421-22279T>G | |
12 | g.6016213A>G | CA478100768 | VWF | c.5331T>C (p.Ala1777=) n.421-22279T>C | |
12 | g.6016213A>T | CA478100769 | VWF | c.5331T>A (p.Ala1777=) n.421-22279T>A | |
12 | g.6016214G>A | CA383495684 | VWF | c.5330C>T (p.Ala1777Val) n.421-22280C>T | |
12 | g.6016214G>C | CA383495682 | VWF | c.5330C>G (p.Ala1777Gly) n.421-22280C>G | |
12 | g.6016214G>T | CA383495677 | VWF | c.5330C>A (p.Ala1777Asp) n.421-22280C>A | |
12 | g.6016215C>A | CA383495686 | VWF | c.5329G>T (p.Ala1777Ser) n.421-22281G>T | |
12 | g.6016215C>G | CA383495688 | VWF | c.5329G>C (p.Ala1777Pro) n.421-22281G>C | |
12 | g.6016215C>T | CA383495690 | VWF | c.5329G>A (p.Ala1777Thr) n.421-22281G>A | gnomAD v4 |
12 | g.6016216A>C | CA383495692 | VWF | c.5328T>G (p.Phe1776Leu) n.421-22282T>G | |
12 | g.6016216A>G | CA478100771 | VWF | c.5328T>C (p.Phe1776=) n.421-22282T>C | |
12 | g.6016216A>T | CA383495698 | VWF | c.5328T>A (p.Phe1776Leu) n.421-22282T>A | |
12 | g.6016217A>C | CA383495703 | VWF | c.5327T>G (p.Phe1776Cys) n.421-22283T>G | |
12 | g.6016217A>G | CA383495705 | VWF | c.5327T>C (p.Phe1776Ser) n.421-22283T>C | |
12 | g.6016217A>T | CA383495708 | VWF | c.5327T>A (p.Phe1776Tyr) n.421-22283T>A | |
12 | g.6016218A>C | CA383495709 | VWF | c.5326T>G (p.Phe1776Val) n.421-22284T>G | |
12 | g.6016218A>G | CA383495711 | VWF | c.5326T>C (p.Phe1776Leu) n.421-22284T>C | |
12 | g.6016218A>T | CA383495713 | VWF | c.5326T>A (p.Phe1776Ile) n.421-22284T>A | |
12 | g.6016219G>A | CA6402291 | VWF | c.5325C>T (p.Gly1775=) n.421-22285C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016219G>C | CA478100772 | VWF | c.5325C>G (p.Gly1775=) n.421-22285C>G | |
12 | g.6016219G= | CA2013871510 | VWF | c.5325C= (p.Gly1775=) n.421-22285C= | |
12 | g.6016219G>T | CA478100773 | VWF | c.5325C>A (p.Gly1775=) n.421-22285C>A | |
12 | g.6016220C>A | CA383495723 | VWF | c.5324G>T (p.Gly1775Val) n.421-22286G>T | |
12 | g.6016220C>G | CA383495731 | VWF | c.5324G>C (p.Gly1775Ala) n.421-22286G>C | |
12 | g.6016220C>T | CA383495720 | VWF | c.5324G>A (p.Gly1775Asp) n.421-22286G>A | gnomAD v4 |
12 | g.6016221C>A | CA383495733 | VWF | c.5323G>T (p.Gly1775Cys) n.421-22287G>T | |
12 | g.6016221C>G | CA383495735 | VWF | c.5323G>C (p.Gly1775Arg) n.421-22287G>C | ClinVar |
12 | g.6016221C>T | CA383495737 | VWF | c.5323G>A (p.Gly1775Ser) n.421-22287G>A | |
12 | g.6016222C>A | CA383495740 | VWF | c.5322G>T (p.Leu1774Phe) n.421-22288G>T | |
12 | g.6016222C>G | CA383495742 | VWF | c.5322G>C (p.Leu1774Phe) n.421-22288G>C | |
12 | g.6016222C>T | CA478100776 | VWF | c.5322G>A (p.Leu1774=) n.421-22288G>A | |
12 | g.6016223A= | CA2013871511 | VWF | c.5321T= (p.Leu1774=) n.421-22289T= | |
12 | g.6016223A>C | CA383495747 | VWF | c.5321T>G (p.Leu1774Trp) n.421-22289T>G | |
12 | g.6016223A>G | CA228710 | VWF | c.5321T>C (p.Leu1774Ser) n.421-22289T>C | ClinVar dbSNP gnomAD v4 |
12 | g.6016223A>T | CA383495745 | VWF | c.5321T>A (p.Leu1774Ter) n.421-22289T>A | |
12 | g.6016224A= | CA2013871512 | VWF | c.5320T= (p.Leu1774=) n.421-22290T= | |
12 | g.6016224A>C | CA383495750 | VWF | c.5320T>G (p.Leu1774Val) n.421-22290T>G | |
12 | g.6016224A>G | CA6402292 | VWF | c.5320T>C (p.Leu1774=) n.421-22290T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016224A>T | CA383495753 | VWF | c.5320T>A (p.Leu1774Met) n.421-22290T>A | |
12 | g.6016225G>A | CA478100777 | VWF | c.5319C>T (p.Ala1773=) n.421-22291C>T | |
12 | g.6016225G>C | CA478100778 | VWF | c.5319C>G (p.Ala1773=) n.421-22291C>G | |
12 | g.6016225G>T | CA478100779 | VWF | c.5319C>A (p.Ala1773=) n.421-22291C>A | |
12 | g.6016226G>A | CA383495755 | VWF | c.5318C>T (p.Ala1773Val) n.421-22292C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6016226G>C | CA383495760 | VWF | c.5318C>G (p.Ala1773Gly) n.421-22292C>G | |
12 | g.6016226G= | CA2013871513 | VWF | c.5318C= (p.Ala1773=) n.421-22292C= | |
12 | g.6016226G>T | CA383495762 | VWF | c.5318C>A (p.Ala1773Asp) n.421-22292C>A | |
12 | g.6016227C>A | CA383495766 | VWF | c.5317G>T (p.Ala1773Ser) n.421-22293G>T | |
12 | g.6016227C>G | CA383495763 | VWF | c.5317G>C (p.Ala1773Pro) n.421-22293G>C | |
12 | g.6016227C>T | CA383495764 | VWF | c.5317G>A (p.Ala1773Thr) n.421-22293G>A | ClinVar gnomAD v4 |
12 | g.6016228A= | CA2013871514 | VWF | c.5316T= (p.Asp1772=) n.421-22294T= | |
12 | g.6016228A>C | CA383495767 | VWF | c.5316T>G (p.Asp1772Glu) n.421-22294T>G | |
12 | g.6016228A>G | CA6402293 | VWF | c.5316T>C (p.Asp1772=) n.421-22294T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016228A>T | CA383495770 | VWF | c.5316T>A (p.Asp1772Glu) n.421-22294T>A | |
12 | g.6016229T>A | CA383495772 | VWF | c.5315A>T (p.Asp1772Val) n.421-22295A>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016229T>C | CA383495774 | VWF | c.5315A>G (p.Asp1772Gly) n.421-22295A>G | |
12 | g.6016229T>G | CA383495775 | VWF | c.5315A>C (p.Asp1772Ala) n.421-22295A>C | |
12 | g.6016229T= | CA2013871515 | VWF | c.5315A= (p.Asp1772=) n.421-22295A= | |
12 | g.6016229_6016230dup | CA2695216019 | VWF | c.5314_5315dup (p.Asp1772GlufsTer11) n.421-22296_421-22295dup | |
12 | g.6016230C>A | CA383495778 | VWF | c.5314G>T (p.Asp1772Tyr) n.421-22296G>T | |
12 | g.6016230C= | CA2013871516 | VWF | c.5314G= (p.Asp1772=) n.421-22296G= | |
12 | g.6016230C>G | CA383495780 | VWF | c.5314G>C (p.Asp1772His) n.421-22296G>C | |
12 | g.6016230C>T | CA383495781 | VWF | c.5314G>A (p.Asp1772Asn) n.421-22296G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6016233del | CA2573106157 | VWF | c.5314del n.421-22296del | ClinVar gnomAD v4 |
12 | g.6016230_6016513delinsCCCCTGAGGATGGAGAACAGATCACGCCAAGTCAGTACTGACTGCGGCTCGACACCCTGTCTTAACGGTGGATCCTTAAGTCACTTAAAAGCTGAATGATTCAGAAACTCCAAGGAACACCCAGTTGAGATCTGGAGAGACGTGGAAGAGCATCTAGCCCCTCACTTTCCAGGAGAAGAAACTAAGGCCAAGGAGCAAAGTGACTGGCCGAGGTCACACAGTCACTTATGCCAAAAATAAGAACCAGAATGCAGCTTCTGCATCCAGCCTGTGGCACCAACGTT | CA2013871517 | VWF | c.5311+3_5314delinsAACGTTGGTGCCACAGGCTGGATGCAGAAGCTGCATTCTGGTTCTTATTTTTGGCATAAGTGACTGTGTGACCTCGGCCAGTCACTTTGCTCCTTGGCCTTAGTTTCTTCTCCTGGAAAGTGAGGGGCTAGATGCTCTTCCACGTCTCTCCAGATCTCAACTGGGTGTTCCTTGGAGTTTCTGAATCATTCAGCTTTTAAGTGACTTAAGGATCCACCGTTAAGACAGGGTGTCGAGCCGCAGTCAGTACTGACTTGGCGTGATCTGTTCTCCATCCTCAGGGG n.421-22579_421-22296delinsAACGTTGGTGCCACAGGCTGGATGCAGAAGCTGCATTCTGGTTCTTATTTTTGGCATAAGTGACTGTGTGACCTCGGCCAGTCACTTTGCTCCTTGGCCTTAGTTTCTTCTCCTGGAAAGTGAGGGGCTAGATGCTCTTCCACGTCTCTCCAGATCTCAACTGGGTGTTCCTTGGAGTTTCTGAATCATTCAGCTTTTAAGTGACTTAAGGATCCACCGTTAAGACAGGGTGTCGAGCCGCAGTCAGTACTGACTTGGCGTGATCTGTTCTCCATCCTCAGGGG | |
12 | g.6016231C>A | CA202494 | VWF | c.5313G>T (p.Gly1771=) n.421-22297G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016231C= | CA2013871518 | VWF | c.5313G= (p.Gly1771=) n.421-22297G= | |
12 | g.6016231C>G | CA478100782 | VWF | c.5313G>C (p.Gly1771=) n.421-22297G>C | |
12 | g.6016231C>T | CA478100783 | VWF | c.5313G>A (p.Gly1771=) n.421-22297G>A | |
12 | g.6016231_6016513del | CA919013590 | VWF | c.5311+3_5313del n.421-22579_421-22297del | dbSNP |
12 | g.6016231_6016514delinsCCCTGAGGATGGAGAACAGATCACGCCAAGTCAGTACTGACTGCGGCTCGACACCCTGTCTTAACGGTGGATCCTTAAGTCACTTAAAAGCTGAATGATTCAGAAACTCCAAGGAACACCCAGTTGAGATCTGGAGAGACGTGGAAGAGCATCTAGCCCCTCACTTTCCAGGAGAAGAAACTAAGGCCAAGGAGCAAAGTGACTGGCCGAGGTCACACAGTCACTTATGCCAAAAATAAGAACCAGAATGCAGCTTCTGCATCCAGCCTGTGGCACCAACGTTA | CA2013871519 | VWF | c.5311+2_5313delinsTAACGTTGGTGCCACAGGCTGGATGCAGAAGCTGCATTCTGGTTCTTATTTTTGGCATAAGTGACTGTGTGACCTCGGCCAGTCACTTTGCTCCTTGGCCTTAGTTTCTTCTCCTGGAAAGTGAGGGGCTAGATGCTCTTCCACGTCTCTCCAGATCTCAACTGGGTGTTCCTTGGAGTTTCTGAATCATTCAGCTTTTAAGTGACTTAAGGATCCACCGTTAAGACAGGGTGTCGAGCCGCAGTCAGTACTGACTTGGCGTGATCTGTTCTCCATCCTCAGGG n.421-22580_421-22297delinsTAACGTTGGTGCCACAGGCTGGATGCAGAAGCTGCATTCTGGTTCTTATTTTTGGCATAAGTGACTGTGTGACCTCGGCCAGTCACTTTGCTCCTTGGCCTTAGTTTCTTCTCCTGGAAAGTGAGGGGCTAGATGCTCTTCCACGTCTCTCCAGATCTCAACTGGGTGTTCCTTGGAGTTTCTGAATCATTCAGCTTTTAAGTGACTTAAGGATCCACCGTTAAGACAGGGTGTCGAGCCGCAGTCAGTACTGACTTGGCGTGATCTGTTCTCCATCCTCAGGG | |
12 | g.6016232C>A | CA383495785 | VWF | c.5312G>T (p.Gly1771Val) n.421-22298G>T | |
12 | g.6016232C= | CA2013871521 | VWF | c.5312G= (p.Gly1771=) n.421-22298G= | |
12 | g.6016232C>G | CA383495787 | VWF | c.5312G>C (p.Gly1771Ala) n.421-22298G>C | dbSNP |
12 | g.6016232C>T | CA383495789 | VWF | c.5312G>A (p.Gly1771Glu) n.421-22298G>A | |
12 | g.6016232_6016234delinsCCT | CA2013871520 | VWF | c.5312-2_5312delinsAGG n.421-22300_421-22298delinsAGG | |
12 | g.6016234_6016516del | CA919013591 | VWF | c.5311+2_5312del n.421-22580_421-22298del | dbSNP |
12 | g.6016233C>A | CA383495791 | VWF | c.5312-1G>T (n.5312-1G>T) n.421-22299G>T | |
12 | g.6016233C= | CA2013871522 | VWF | c.5312-1G= (n.5312-1G=) n.421-22299G= | |
12 | g.6016233C>G | CA383495795 | VWF | c.5312-1G>C (n.5312-1G>C) n.421-22299G>C | |
12 | g.6016233C>T | CA383495793 | VWF | c.5312-1G>A (n.5312-1G>A) n.421-22299G>A | dbSNP |
12 | g.6016233_6016234del | CA603099544 | VWF | c.5312-2_5312-1del (n.5312-2_5312-1del) n.421-22300_421-22299del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016234T>A | CA232293913 | VWF | c.5312-2A>T (n.5312-2A>T) n.421-22300A>T | dbSNP |
12 | g.6016234T>C | CA383495798 | VWF | c.5312-2A>G (n.5312-2A>G) n.421-22300A>G | |
12 | g.6016234T>G | CA232293915 | VWF | c.5312-2A>C (n.5312-2A>C) n.421-22300A>C | dbSNP |
12 | g.6016234T= | CA2013871523 | VWF | c.5312-2A= (n.5312-2A=) n.421-22300A= | |
12 | g.6016235G>A | CA232293917 | VWF | c.5312-3C>T (n.5312-3C>T) n.421-22301C>T | dbSNP |
12 | g.6016235G>C | CA232293919 | VWF | c.5312-3C>G (n.5312-3C>G) n.421-22301C>G | dbSNP |
12 | g.6016235G= | CA2013871524 | VWF | c.5312-3C= (n.5312-3C=) n.421-22301C= | |
12 | g.6016236A>G | CA2617229106 | VWF | c.5312-4T>C (n.5312-4T>C) n.421-22302T>C | gnomAD v4 |
12 | g.6016237G>A | CA2013871526 | VWF | c.5312-5C>T (n.5312-5C>T) n.421-22303C>T | dbSNP |
12 | g.6016237G>C | CA2617229107 | VWF | c.5312-5C>G (n.5312-5C>G) n.421-22303C>G | gnomAD v4 |
12 | g.6016237G= | CA2013871525 | VWF | c.5312-5C= (n.5312-5C=) n.421-22303C= | |
12 | g.6016237G>T | CA2572528632 | VWF | c.5312-5C>A (n.5312-5C>A) n.421-22303C>A | |
12 | g.6016239A>G | CA2617229108 | VWF | c.5312-7T>C (n.5312-7T>C) n.421-22305T>C | gnomAD v4 |
12 | g.6016240T>A | CA2617229109 | VWF | c.5312-8A>T (n.5312-8A>T) n.421-22306A>T | gnomAD v4 |
12 | g.6016240_6016241delinsTG | CA2013871527 | VWF | c.5312-9_5312-8delinsCA (n.5312-9_5312-8delinsCA) n.421-22307_421-22306delinsCA | |
12 | g.6016242del | CA6402294 | VWF | c.5312-9del (n.5312-9del) n.421-22307del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016242G>A | CA2617229110 | VWF | c.5312-10C>T (n.5312-10C>T) n.421-22308C>T | gnomAD v4 |
12 | g.6016242G>C | CA6402295 | VWF | c.5312-10C>G (n.5312-10C>G) n.421-22308C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016242G= | CA2013871528 | VWF | c.5312-10C= (n.5312-10C=) n.421-22308C= | |
12 | g.6016244G>A | CA2617229111 | VWF | c.5312-12C>T (n.5312-12C>T) n.421-22310C>T | gnomAD v4 |
12 | g.6016245A>G | CA2617229112 | VWF | c.5312-13T>C (n.5312-13T>C) n.421-22311T>C | gnomAD v4 |
12 | g.6016246A= | CA2013871529 | VWF | c.5312-14T= (n.5312-14T=) n.421-22312T= | |
12 | g.6016246A>G | CA2013871530 | VWF | c.5312-14T>C (n.5312-14T>C) n.421-22312T>C | dbSNP gnomAD v4 |
12 | g.6016247C= | CA2013871531 | VWF | c.5312-15G= (n.5312-15G=) n.421-22313G= | |
12 | g.6016247C>G | CA2617229113 | VWF | c.5312-15G>C (n.5312-15G>C) n.421-22313G>C | gnomAD v4 |
12 | g.6016247C>T | CA6402296 | VWF | c.5312-15G>A (n.5312-15G>A) n.421-22313G>A | dbSNP ExAC gnomAD v3 gnomAD v4 |
12 | g.6016248A>G | CA2617229114 | VWF | c.5312-16T>C (n.5312-16T>C) n.421-22314T>C | gnomAD v4 |
12 | g.6016250A>G | CA2617229115 | VWF | c.5312-18T>C (n.5312-18T>C) n.421-22316T>C | gnomAD v4 |
12 | g.6016250A>T | CA2617229116 | VWF | c.5312-18T>A (n.5312-18T>A) n.421-22316T>A | gnomAD v4 |
12 | g.6016251T>C | CA2617229117 | VWF | c.5312-19A>G (n.5312-19A>G) n.421-22317A>G | gnomAD v4 |
12 | g.6016251T>G | CA6402297 | VWF | c.5312-19A>C (n.5312-19A>C) n.421-22317A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016251T= | CA2013871532 | VWF | c.5312-19A= (n.5312-19A=) n.421-22317A= | |
12 | g.6016252C>T | CA2575053844 | VWF | c.5312-20G>A (n.5312-20G>A) n.421-22318G>A | gnomAD v4 |
12 | g.6016253A>C | CA2617229118 | VWF | c.5312-21T>G (n.5312-21T>G) n.421-22319T>G | gnomAD v4 |
12 | g.6016254del | CA2617229119 | VWF | c.5312-22del (n.5312-22del) n.421-22320del | gnomAD v4 |
12 | g.6016254C= | CA2013871533 | VWF | c.5312-22G= (n.5312-22G=) n.421-22320G= | |
12 | g.6016254C>T | CA6402298 | VWF | c.5312-22G>A (n.5312-22G>A) n.421-22320G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016255G>A | CA6402299 | VWF | c.5312-23C>T (n.5312-23C>T) n.421-22321C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016255G= | CA2013871534 | VWF | c.5312-23C= (n.5312-23C=) n.421-22321C= | |
12 | g.6016255G>T | CA2617229120 | VWF | c.5312-23C>A (n.5312-23C>A) n.421-22321C>A | gnomAD v4 |
12 | g.6016256C= | CA2013871535 | VWF | c.5312-24G= (n.5312-24G=) n.421-22322G= | |
12 | g.6016256C>G | CA6402300 | VWF | c.5312-24G>C (n.5312-24G>C) n.421-22322G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016256C>T | CA6402301 | VWF | c.5312-24G>A (n.5312-24G>A) n.421-22322G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016258A= | CA2013871536 | VWF | c.5312-26T= (n.5312-26T=) n.421-22324T= | |
12 | g.6016258A>C | CA6402302 | VWF | c.5312-26T>G (n.5312-26T>G) n.421-22324T>G | dbSNP ExAC gnomAD v2 |
12 | g.6016259A>C | CA2617229121 | VWF | c.5312-27T>G (n.5312-27T>G) n.421-22325T>G | gnomAD v4 |
12 | g.6016260G>A | CA6402304 | VWF | c.5312-28C>T (n.5312-28C>T) n.421-22326C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016260G>C | CA6402303 | VWF | c.5312-28C>G (n.5312-28C>G) n.421-22326C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016260G= | CA2013871537 | VWF | c.5312-28C= (n.5312-28C=) n.421-22326C= | |
12 | g.6016262C>A | CA690498023 | VWF | c.5312-30G>T (n.5312-30G>T) n.421-22328G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016262C= | CA2013871538 | VWF | c.5312-30G= (n.5312-30G=) n.421-22328G= | |
12 | g.6016262C>T | CA690498014 | VWF | c.5312-30G>A (n.5312-30G>A) n.421-22328G>A | dbSNP gnomAD v4 |
12 | g.6016263A= | CA2013871539 | VWF | c.5312-31T= (n.5312-31T=) n.421-22329T= | |
12 | g.6016263A>T | CA6402305 | VWF | c.5312-31T>A (n.5312-31T>A) n.421-22329T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016265T>C | CA2794406128 | VWF | c.5312-33A>G (n.5312-33A>G) n.421-22331A>G | |
12 | g.6016266A= | CA2013871540 | VWF | c.5312-34T= (n.5312-34T=) n.421-22332T= | |
12 | g.6016266A>G | CA232293937 | VWF | c.5312-34T>C (n.5312-34T>C) n.421-22332T>C | dbSNP gnomAD v4 |
12 | g.6016268T>A | CA6402307 | VWF | c.5312-36A>T (n.5312-36A>T) n.421-22334A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016268T>G | CA6402306 | VWF | c.5312-36A>C (n.5312-36A>C) n.421-22334A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016268T= | CA2013871541 | VWF | c.5312-36A= (n.5312-36A=) n.421-22334A= | |
12 | g.6016269G>A | CA232293942 | VWF | c.5312-37C>T (n.5312-37C>T) n.421-22335C>T | dbSNP gnomAD v4 |
12 | g.6016269G>C | CA6402308 | VWF | c.5312-37C>G (n.5312-37C>G) n.421-22335C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016269G= | CA2013871542 | VWF | c.5312-37C= (n.5312-37C=) n.421-22335C= | |
12 | g.6016270A>G | CA2617229122 | VWF | c.5312-38T>C (n.5312-38T>C) n.421-22336T>C | gnomAD v4 |
12 | g.6016278_6016279insGGACACCCTGCGGCT | CA2575053845 | VWF | c.5312-39_5312-38insGGTGTCCAGCCGCAG (n.5312-39_5312-38insGGTGTCCAGCCGCAG) n.421-22337_421-22336insGGTGTCCAGCCGCAG | |
12 | g.6016273G>A | CA2617229123 | VWF | c.5312-41C>T (n.5312-41C>T) n.421-22339C>T | gnomAD v4 |
12 | g.6016274C>A | CA2013871544 | VWF | c.5312-42G>T (n.5312-42G>T) n.421-22340G>T | dbSNP gnomAD v4 |
12 | g.6016274C= | CA2013871543 | VWF | c.5312-42G= (n.5312-42G=) n.421-22340G= | |
12 | g.6016274C>T | CA603099791 | VWF | c.5312-42G>A (n.5312-42G>A) n.421-22340G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6016275G>A | CA6402309 | VWF | c.5312-43C>T (n.5312-43C>T) n.421-22341C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016275G= | CA2013871545 | VWF | c.5312-43C= (n.5312-43C=) n.421-22341C= | |
12 | g.6016277C= | CA2013871546 | VWF | c.5312-45G= (n.5312-45G=) n.421-22343G= | |
12 | g.6016277C>G | CA2617229124 | VWF | c.5312-45G>C (n.5312-45G>C) n.421-22343G>C | gnomAD v4 |
12 | g.6016277C>T | CA690498035 | VWF | c.5312-45G>A (n.5312-45G>A) n.421-22343G>A | dbSNP gnomAD v4 |
12 | g.6016278T>C | CA6402310 | VWF | c.5312-46A>G (n.5312-46A>G) n.421-22344A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016278T= | CA2013871547 | VWF | c.5312-46A= (n.5312-46A=) n.421-22344A= | |
12 | g.6016279C>A | CA2581068919 | VWF | c.5312-47G>T (n.5312-47G>T) n.421-22345G>T | |
12 | g.6016279C= | CA2013871548 | VWF | c.5312-47G= (n.5312-47G=) n.421-22345G= | |
12 | g.6016279C>G | CA6402311 | VWF | c.5312-47G>C (n.5312-47G>C) n.421-22345G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016279C>T | CA6402312 | VWF | c.5312-47G>A (n.5312-47G>A) n.421-22345G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016280G>A | CA6402313 | VWF | c.5312-48C>T (n.5312-48C>T) n.421-22346C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016280G= | CA2013871549 | VWF | c.5312-48C= (n.5312-48C=) n.421-22346C= | |
12 | g.6016282C= | CA2013871550 | VWF | c.5312-50G= (n.5312-50G=) n.421-22348G= | |
12 | g.6016282C>T | CA6402314 | VWF | c.5312-50G>A (n.5312-50G>A) n.421-22348G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016284C>A | CA2617229126 | VWF | c.5312-52G>T (n.5312-52G>T) n.421-22350G>T | gnomAD v4 |
12 | g.6016284C= | CA2013871551 | VWF | c.5312-52G= (n.5312-52G=) n.421-22350G= | |
12 | g.6016284C>T | CA6402315 | VWF | c.5312-52G>A (n.5312-52G>A) n.421-22350G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6016286del | CA2617229125 | VWF | c.5312-52del (n.5312-52del) n.421-22350del | gnomAD v4 |
12 | g.6016285C= | CA2013871552 | VWF | c.5312-53G= (n.5312-53G=) n.421-22351G= | |
12 | g.6016285C>G | CA690498049 | VWF | c.5312-53G>C (n.5312-53G>C) n.421-22351G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016285C>T | CA2617229127 | VWF | c.5312-53G>A (n.5312-53G>A) n.421-22351G>A | gnomAD v4 |
12 | g.6016286C= | CA2013871553 | VWF | c.5312-54G= (n.5312-54G=) n.421-22352G= | |
12 | g.6016286C>G | CA2617229128 | VWF | c.5312-54G>C (n.5312-54G>C) n.421-22352G>C | gnomAD v4 |
12 | g.6016286C>T | CA2013871554 | VWF | c.5312-54G>A (n.5312-54G>A) n.421-22352G>A | dbSNP gnomAD v4 |
12 | g.6016287del | CA2617229129 | VWF | c.5312-55del (n.5312-55del) n.421-22353del | gnomAD v4 |
12 | g.6016287T>C | CA603099792 | VWF | c.5312-55A>G (n.5312-55A>G) n.421-22353A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016287T= | CA2013871555 | VWF | c.5312-55A= (n.5312-55A=) n.421-22353A= | |
12 | g.6016288G>A | CA2617229130 | VWF | c.5312-56C>T (n.5312-56C>T) n.421-22354C>T | gnomAD v4 |
12 | g.6016288G>C | CA2617229131 | VWF | c.5312-56C>G (n.5312-56C>G) n.421-22354C>G | gnomAD v4 |
12 | g.6016288G>T | CA2617229132 | VWF | c.5312-56C>A (n.5312-56C>A) n.421-22354C>A | gnomAD v4 |
12 | g.6016289T>C | CA2013871557 | VWF | c.5312-57A>G (n.5312-57A>G) n.421-22355A>G | dbSNP gnomAD v4 |
12 | g.6016289T= | CA2013871556 | VWF | c.5312-57A= (n.5312-57A=) n.421-22355A= | |
12 | g.6016291T>C | CA2617229133 | VWF | c.5312-59A>G (n.5312-59A>G) n.421-22357A>G | gnomAD v4 |
12 | g.6016292del | CA2575053846 | VWF | c.5312-59del (n.5312-59del) n.421-22357del | |
12 | g.6016292_6016293delinsTA | CA2013871558 | VWF | c.5312-61_5312-60delinsTA (n.5312-61_5312-60delinsTA) n.421-22359_421-22358delinsTA | |
12 | g.6016294del | CA232293957 | VWF | c.5312-61del (n.5312-61del) n.421-22359del | dbSNP |
12 | g.6016295del | CA2575053847 | VWF | c.5312-63del (n.5312-63del) n.421-22361del | |
12 | g.6016295C= | CA2013871559 | VWF | c.5312-63G= (n.5312-63G=) n.421-22361G= | |
12 | g.6016295C>T | CA232293960 | VWF | c.5312-63G>A (n.5312-63G>A) n.421-22361G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6016296G>A | CA690498063 | VWF | c.5312-64C>T (n.5312-64C>T) n.421-22362C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6016296G= | CA2013871560 | VWF | c.5312-64C= (n.5312-64C=) n.421-22362C= | |
12 | g.6016296G>T | CA2617229134 | VWF | c.5312-64C>A (n.5312-64C>A) n.421-22362C>A | gnomAD v4 |
12 | g.6016297G>A | CA2617229136 | VWF | c.5312-65C>T (n.5312-65C>T) n.421-22363C>T | gnomAD v4 |
12 | g.6016297G>T | CA2617229135 | VWF | c.5312-65C>A (n.5312-65C>A) n.421-22363C>A | gnomAD v4 |