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