| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |