Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.6018598A= | CA2013872590 | VWF | c.4820T= (p.Val1607=) n.421-24664T= | |
12 | g.6018598A>C | CA383499060 | VWF | c.4820T>G (p.Val1607Gly) n.421-24664T>G | |
12 | g.6018598A>G | CA383499063 | VWF | c.4820T>C (p.Val1607Ala) n.421-24664T>C | |
12 | g.6018598A>T | CA114119 | VWF | c.4820T>A (p.Val1607Asp) n.421-24664T>A | ClinVar dbSNP |
12 | g.6018599C>A | CA383499070 | VWF | c.4819G>T (p.Val1607Phe) n.421-24665G>T | |
12 | g.6018599C>G | CA383499079 | VWF | c.4819G>C (p.Val1607Leu) n.421-24665G>C | |
12 | g.6018599C>T | CA383499077 | VWF | c.4819G>A (p.Val1607Ile) n.421-24665G>A | |
12 | g.6018600C>A | CA383499083 | VWF | c.4818G>T (p.Met1606Ile) n.421-24666G>T | |
12 | g.6018600C>G | CA383499085 | VWF | c.4818G>C (p.Met1606Ile) n.421-24666G>C | |
12 | g.6018600C>T | CA383499086 | VWF | c.4818G>A (p.Met1606Ile) n.421-24666G>A | |
12 | g.6018601A>C | CA383499090 | VWF | c.4817T>G (p.Met1606Arg) n.421-24667T>G | |
12 | g.6018601A>G | CA383499094 | VWF | c.4817T>C (p.Met1606Thr) n.421-24667T>C | gnomAD v4 |
12 | g.6018601A>T | CA383499097 | VWF | c.4817T>A (p.Met1606Lys) n.421-24667T>A | |
12 | g.6018602T>A | CA383499099 | VWF | c.4816A>T (p.Met1606Leu) n.421-24668A>T | |
12 | g.6018602T>C | CA6402454 | VWF | c.4816A>G (p.Met1606Val) n.421-24668A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018602T>G | CA383499104 | VWF | c.4816A>C (p.Met1606Leu) n.421-24668A>C | |
12 | g.6018602T= | CA2013872591 | VWF | c.4816A= (p.Met1606=) n.421-24668A= | |
12 | g.6018603G>A | CA478501945 | VWF | c.4815C>T (p.Tyr1605=) n.421-24669C>T | |
12 | g.6018603G>C | CA383499108 | VWF | c.4815C>G (p.Tyr1605Ter) n.421-24669C>G | |
12 | g.6018603G>T | CA383499115 | VWF | c.4815C>A (p.Tyr1605Ter) n.421-24669C>A | |
12 | g.6018604T>A | CA383499127 | VWF | c.4814A>T (p.Tyr1605Phe) n.421-24670A>T | |
12 | g.6018604T>C | CA383499123 | VWF | c.4814A>G (p.Tyr1605Cys) n.421-24670A>G | gnomAD v4 |
12 | g.6018604T>G | CA383499120 | VWF | c.4814A>C (p.Tyr1605Ser) n.421-24670A>C | |
12 | g.6018605A>C | CA383499133 | VWF | c.4813T>G (p.Tyr1605Asp) n.421-24671T>G | |
12 | g.6018605A>G | CA383499137 | VWF | c.4813T>C (p.Tyr1605His) n.421-24671T>C | |
12 | g.6018605A>T | CA383499135 | VWF | c.4813T>A (p.Tyr1605Asn) n.421-24671T>A | |
12 | g.6018606G>A | CA478501952 | VWF | c.4812C>T (p.Val1604=) n.421-24672C>T | |
12 | g.6018606G>C | CA478501953 | VWF | c.4812C>G (p.Val1604=) n.421-24672C>G | |
12 | g.6018606G>T | CA478501954 | VWF | c.4812C>A (p.Val1604=) n.421-24672C>A | |
12 | g.6018607A>C | CA383499140 | VWF | c.4811T>G (p.Val1604Gly) n.421-24673T>G | gnomAD v4 |
12 | g.6018607A>G | CA383499141 | VWF | c.4811T>C (p.Val1604Ala) n.421-24673T>C | |
12 | g.6018607A>T | CA383499144 | VWF | c.4811T>A (p.Val1604Asp) n.421-24673T>A | |
12 | g.6018608C>A | CA228663 | VWF | c.4810G>T (p.Val1604Phe) n.421-24674G>T | ClinVar dbSNP |
12 | g.6018608C= | CA2013872592 | VWF | c.4810G= (p.Val1604=) n.421-24674G= | |
12 | g.6018608C>G | CA383499150 | VWF | c.4810G>C (p.Val1604Leu) n.421-24674G>C | |
12 | g.6018608C>T | CA383499153 | VWF | c.4810G>A (p.Val1604Ile) n.421-24674G>A | |
12 | g.6018609C>A | CA478501966 | VWF | c.4809G>T (p.Leu1603=) n.421-24675G>T | |
12 | g.6018609C= | CA2013872594 | VWF | c.4809G= (p.Leu1603=) n.421-24675G= | |
12 | g.6018609C>G | CA478501962 | VWF | c.4809G>C (p.Leu1603=) n.421-24675G>C | dbSNP gnomAD v4 |
12 | g.6018609C>T | CA478501964 | VWF | c.4809G>A (p.Leu1603=) n.421-24675G>A | |
12 | g.6018609_6018610delinsCA | CA2013872593 | VWF | c.4808_4809delinsTG (p.Leu1603=) n.421-24676_421-24675delinsTG | |
12 | g.6018610del | CA690500583 | VWF | c.4808del (p.Leu1603ArgfsTer?) n.421-24676del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018610A= | CA2013872595 | VWF | c.4808T= (p.Leu1603=) n.421-24676T= | |
12 | g.6018610A>C | CA383499156 | VWF | c.4808T>G (p.Leu1603Arg) n.421-24676T>G | |
12 | g.6018610A>G | CA228661 | VWF | c.4808T>C (p.Leu1603Pro) n.421-24676T>C | ClinVar dbSNP |
12 | g.6018610A>T | CA383499161 | VWF | c.4808T>A (p.Leu1603Gln) n.421-24676T>A | |
12 | g.6018611G>A | CA478501971 | VWF | c.4807C>T (p.Leu1603=) n.421-24677C>T | |
12 | g.6018611G>C | CA383499164 | VWF | c.4807C>G (p.Leu1603Val) n.421-24677C>G | |
12 | g.6018611G>T | CA383499166 | VWF | c.4807C>A (p.Leu1603Met) n.421-24677C>A | |
12 | g.6018612G>A | CA478501973 | VWF | c.4806C>T (p.Asn1602=) n.421-24678C>T | dbSNP gnomAD v3 gnomAD v4 |