Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018553_6018570del | CA2580086236 | VWF | c.4850_4867del (p.Lys1617_Asp1622del) n.421-24634_421-24617del | ClinVar dbSNP |
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 |
12 | g.6018580G>A | CA383498945 | VWF | c.4838C>T (p.Ser1613Phe) n.421-24646C>T | gnomAD v4 COSMIC |