Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
12 | g.6018580G>C | CA383498947 | VWF | c.4838C>G (p.Ser1613Cys) n.421-24646C>G | |
12 | g.6018580G>T | CA383498950 | VWF | c.4838C>A (p.Ser1613Tyr) n.421-24646C>A | |
12 | g.6018581A= | CA2013872582 | VWF | c.4837T= (p.Ser1613=) n.421-24647T= | |
12 | g.6018581A>C | CA383498953 | VWF | c.4837T>G (p.Ser1613Ala) n.421-24647T>G | |
12 | g.6018581A>G | CA114131 | VWF | c.4837T>C (p.Ser1613Pro) n.421-24647T>C | ClinVar dbSNP |
12 | g.6018581A>T | CA383498957 | VWF | c.4837T>A (p.Ser1613Thr) n.421-24647T>A | |
12 | g.6018582G>A | CA6402450 | VWF | c.4836C>T (p.Ala1612=) n.421-24648C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018582G>C | CA478501884 | VWF | c.4836C>G (p.Ala1612=) n.421-24648C>G | |
12 | g.6018582G= | CA2013872583 | VWF | c.4836C= (p.Ala1612=) n.421-24648C= | |
12 | g.6018582G>T | CA478501882 | VWF | c.4836C>A (p.Ala1612=) n.421-24648C>A | |
12 | g.6018583G>A | CA6402451 | VWF | c.4835C>T (p.Ala1612Val) n.421-24649C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018583G>C | CA383498966 | VWF | c.4835C>G (p.Ala1612Gly) n.421-24649C>G | |
12 | g.6018583G= | CA2013872584 | VWF | c.4835C= (p.Ala1612=) n.421-24649C= | |
12 | g.6018583G>T | CA383498969 | VWF | c.4835C>A (p.Ala1612Asp) n.421-24649C>A | |
12 | g.6018584C>A | CA383498976 | VWF | c.4834G>T (p.Ala1612Ser) n.421-24650G>T | |
12 | g.6018584C= | CA2013872585 | VWF | c.4834G= (p.Ala1612=) n.421-24650G= | |
12 | g.6018584C>G | CA383498979 | VWF | c.4834G>C (p.Ala1612Pro) n.421-24650G>C | ClinVar dbSNP gnomAD v4 |
12 | g.6018584C>T | CA383498983 | VWF | c.4834G>A (p.Ala1612Thr) n.421-24650G>A | |
12 | g.6018585A>C | CA478501892 | VWF | c.4833T>G (p.Pro1611=) n.421-24651T>G | |
12 | g.6018585A>G | CA478501893 | VWF | c.4833T>C (p.Pro1611=) n.421-24651T>C | |
12 | g.6018585A>T | CA478501894 | VWF | c.4833T>A (p.Pro1611=) n.421-24651T>A | |
12 | g.6018586G>A | CA383498992 | VWF | c.4832C>T (p.Pro1611Leu) n.421-24652C>T | |
12 | g.6018586G>C | CA383498986 | VWF | c.4832C>G (p.Pro1611Arg) n.421-24652C>G | |
12 | g.6018586G>T | CA383498989 | VWF | c.4832C>A (p.Pro1611His) n.421-24652C>A | |
12 | g.6018587G>A | CA383498995 | VWF | c.4831C>T (p.Pro1611Ser) n.421-24653C>T | |
12 | g.6018587G>C | CA383498998 | VWF | c.4831C>G (p.Pro1611Ala) n.421-24653C>G | |
12 | g.6018587G= | CA2013872586 | VWF | c.4831C= (p.Pro1611=) n.421-24653C= | |
12 | g.6018587G>T | CA383499000 | VWF | c.4831C>A (p.Pro1611Thr) n.421-24653C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018588A= | CA2013872587 | VWF | c.4830T= (p.Asn1610=) n.421-24654T= | |
12 | g.6018588A>C | CA383499003 | VWF | c.4830T>G (p.Asn1610Lys) n.421-24654T>G | |
12 | g.6018588A>G | CA478501898 | VWF | c.4830T>C (p.Asn1610=) n.421-24654T>C | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018588A>T | CA383499010 | VWF | c.4830T>A (p.Asn1610Lys) n.421-24654T>A | |
12 | g.6018589T>A | CA383499013 | VWF | c.4829A>T (p.Asn1610Ile) n.421-24655A>T | |
12 | g.6018589T>C | CA383499017 | VWF | c.4829A>G (p.Asn1610Ser) n.421-24655A>G | |
12 | g.6018589T>G | CA383499020 | VWF | c.4829A>C (p.Asn1610Thr) n.421-24655A>C | |
12 | g.6018590T>A | CA383499021 | VWF | c.4828A>T (p.Asn1610Tyr) n.421-24656A>T | |
12 | g.6018590T>C | CA383499023 | VWF | c.4828A>G (p.Asn1610Asp) n.421-24656A>G | |
12 | g.6018590T>G | CA383499027 | VWF | c.4828A>C (p.Asn1610His) n.421-24656A>C | |
12 | g.6018591T>A | CA478501906 | VWF | c.4827A>T (p.Gly1609=) n.421-24657A>T | |
12 | g.6018591T>C | CA478501908 | VWF | c.4827A>G (p.Gly1609=) n.421-24657A>G | |
12 | g.6018591T>G | CA478501909 | VWF | c.4827A>C (p.Gly1609=) n.421-24657A>C | |
12 | g.6018592C>A | CA383499035 | VWF | c.4826G>T (p.Gly1609Val) n.421-24658G>T | |
12 | g.6018592C>G | CA383499033 | VWF | c.4826G>C (p.Gly1609Ala) n.421-24658G>C | |
12 | g.6018592C>T | CA383499032 | VWF | c.4826G>A (p.Gly1609Glu) n.421-24658G>A | ClinVar |
12 | g.6018593del | CA2617230156 | VWF | c.4826del (p.Gly1609GlufsTer?) n.421-24658del | gnomAD v4 |
12 | g.6018593C>A | CA383499040 | VWF | c.4825G>T (p.Gly1609Ter) n.421-24659G>T | |
12 | g.6018593C= | CA2013872588 | VWF | c.4825G= (p.Gly1609=) n.421-24659G= | |
12 | g.6018593C>G | CA383499042 | VWF | c.4825G>C (p.Gly1609Arg) n.421-24659G>C | |
12 | g.6018593C>T | CA228665 | VWF | c.4825G>A (p.Gly1609Arg) n.421-24659G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018594G>A | CA6402453 | VWF | c.4824C>T (p.Thr1608=) n.421-24660C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018594G>C | CA6402452 | VWF | c.4824C>G (p.Thr1608=) n.421-24660C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018594G= | CA2013872589 | VWF | c.4824C= (p.Thr1608=) n.421-24660C= | |
12 | g.6018594G>T | CA478501917 | VWF | c.4824C>A (p.Thr1608=) n.421-24660C>A | |
12 | g.6018595G>A | CA383499052 | VWF | c.4823C>T (p.Thr1608Ile) n.421-24661C>T | |
12 | g.6018595G>C | CA383499051 | VWF | c.4823C>G (p.Thr1608Ser) n.421-24661C>G | |
12 | g.6018595G>T | CA383499050 | VWF | c.4823C>A (p.Thr1608Asn) n.421-24661C>A | |
12 | g.6018596T>A | CA383499053 | VWF | c.4822A>T (p.Thr1608Ser) n.421-24662A>T | |
12 | g.6018596T>C | CA383499055 | VWF | c.4822A>G (p.Thr1608Ala) n.421-24662A>G | COSMIC |
12 | g.6018596T>G | CA383499057 | VWF | c.4822A>C (p.Thr1608Pro) n.421-24662A>C | |
12 | g.6018597G>A | CA478501928 | VWF | c.4821C>T (p.Val1607=) n.421-24663C>T | |
12 | g.6018597G>C | CA478501926 | VWF | c.4821C>G (p.Val1607=) n.421-24663C>G | gnomAD v4 |
12 | g.6018597G>T | CA478501925 | VWF | c.4821C>A (p.Val1607=) n.421-24663C>A | |
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 |
12 | g.6018612G>C | CA383499169 | VWF | c.4806C>G (p.Asn1602Lys) n.421-24678C>G | |
12 | g.6018612G= | CA2013872596 | VWF | c.4806C= (p.Asn1602=) n.421-24678C= | |
12 | g.6018612G>T | CA383499171 | VWF | c.4806C>A (p.Asn1602Lys) n.421-24678C>A | |
12 | g.6018613T>A | CA383499175 | VWF | c.4805A>T (p.Asn1602Ile) n.421-24679A>T | |
12 | g.6018613T>C | CA383499178 | VWF | c.4805A>G (p.Asn1602Ser) n.421-24679A>G | gnomAD v4 |
12 | g.6018613T>G | CA383499177 | VWF | c.4805A>C (p.Asn1602Thr) n.421-24679A>C | |
12 | g.6018614T>A | CA383499184 | VWF | c.4804A>T (p.Asn1602Tyr) n.421-24680A>T | |
12 | g.6018614T>C | CA383499192 | VWF | c.4804A>G (p.Asn1602Asp) n.421-24680A>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018614T>G | CA383499194 | VWF | c.4804A>C (p.Asn1602His) n.421-24680A>C | |
12 | g.6018614T= | CA2013872597 | VWF | c.4804A= (p.Asn1602=) n.421-24680A= | |
12 | g.6018615G>A | CA478501980 | VWF | c.4803C>T (p.Pro1601=) n.421-24681C>T | COSMIC |
12 | g.6018615G>C | CA478501981 | VWF | c.4803C>G (p.Pro1601=) n.421-24681C>G | |
12 | g.6018615G>T | CA478501983 | VWF | c.4803C>A (p.Pro1601=) n.421-24681C>A | |
12 | g.6018616G>A | CA383499199 | VWF | c.4802C>T (p.Pro1601Leu) n.421-24682C>T | |
12 | g.6018616G>C | CA383499203 | VWF | c.4802C>G (p.Pro1601Arg) n.421-24682C>G | |
12 | g.6018616G>T | CA383499204 | VWF | c.4802C>A (p.Pro1601His) n.421-24682C>A | |
12 | g.6018617G>A | CA383499205 | VWF | c.4801C>T (p.Pro1601Ser) n.421-24683C>T | dbSNP |
12 | g.6018617G>C | CA383499206 | VWF | c.4801C>G (p.Pro1601Ala) n.421-24683C>G | |
12 | g.6018617G= | CA2013872598 | VWF | c.4801C= (p.Pro1601=) n.421-24683C= | |
12 | g.6018617G>T | CA383499207 | VWF | c.4801C>A (p.Pro1601Thr) n.421-24683C>A | |
12 | g.6018618C>A | CA478501990 | VWF | c.4800G>T (p.Ala1600=) n.421-24684G>T | |
12 | g.6018618C= | CA2013872599 | VWF | c.4800G= (p.Ala1600=) n.421-24684G= | |
12 | g.6018618C>G | CA478501991 | VWF | c.4800G>C (p.Ala1600=) n.421-24684G>C | |
12 | g.6018618C>T | CA6402455 | VWF | c.4800G>A (p.Ala1600=) n.421-24684G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.6018619G>A | CA6402456 | VWF | c.4799C>T (p.Ala1600Val) n.421-24685C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018619G>C | CA383499221 | VWF | c.4799C>G (p.Ala1600Gly) n.421-24685C>G | |
12 | g.6018619G= | CA2013872600 | VWF | c.4799C= (p.Ala1600=) n.421-24685C= | |
12 | g.6018619G>T | CA383499219 | VWF | c.4799C>A (p.Ala1600Glu) n.421-24685C>A | |
12 | g.6018620C>A | CA383499226 | VWF | c.4798G>T (p.Ala1600Ser) n.421-24686G>T | |
12 | g.6018620C>G | CA383499227 | VWF | c.4798G>C (p.Ala1600Pro) n.421-24686G>C | |
12 | g.6018620C>T | CA383499229 | VWF | c.4798G>A (p.Ala1600Thr) n.421-24686G>A | |
12 | g.6018621C>A | CA383499233 | VWF | c.4797G>T (p.Gln1599His) n.421-24687G>T | |
12 | g.6018621C>G | CA383499234 | VWF | c.4797G>C (p.Gln1599His) n.421-24687G>C | |
12 | g.6018621C>T | CA478502001 | VWF | c.4797G>A (p.Gln1599=) n.421-24687G>A | |
12 | g.6018622T>A | CA383499242 | VWF | c.4796A>T (p.Gln1599Leu) n.421-24688A>T | COSMIC |
12 | g.6018622T>C | CA383499239 | VWF | c.4796A>G (p.Gln1599Arg) n.421-24688A>G | |
12 | g.6018622T>G | CA383499238 | VWF | c.4796A>C (p.Gln1599Pro) n.421-24688A>C | |
12 | g.6018623G>A | CA383499245 | VWF | c.4795C>T (p.Gln1599Ter) n.421-24689C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018623G>C | CA383499248 | VWF | c.4795C>G (p.Gln1599Glu) n.421-24689C>G | |
12 | g.6018623G= | CA2013872601 | VWF | c.4795C= (p.Gln1599=) n.421-24689C= | |
12 | g.6018623G>T | CA383499251 | VWF | c.4795C>A (p.Gln1599Lys) n.421-24689C>A | |
12 | g.6018624C>A | CA383499262 | VWF | c.4794G>T (p.Glu1598Asp) n.421-24690G>T | |
12 | g.6018624C= | CA2013872602 | VWF | c.4794G= (p.Glu1598=) n.421-24690G= | |
12 | g.6018624C>G | CA383499264 | VWF | c.4794G>C (p.Glu1598Asp) n.421-24690G>C | |
12 | g.6018624C>T | CA6402457 | VWF | c.4794G>A (p.Glu1598=) n.421-24690G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018625T>A | CA383499272 | VWF | c.4793A>T (p.Glu1598Val) n.421-24691A>T | |
12 | g.6018625T>C | CA383499279 | VWF | c.4793A>G (p.Glu1598Gly) n.421-24691A>G | |
12 | g.6018625T>G | CA383499275 | VWF | c.4793A>C (p.Glu1598Ala) n.421-24691A>C | |
12 | g.6018626C>A | CA383499283 | VWF | c.4792G>T (p.Glu1598Ter) n.421-24692G>T | ClinVar dbSNP |
12 | g.6018626C= | CA2013872603 | VWF | c.4792G= (p.Glu1598=) n.421-24692G= | |
12 | g.6018626C>G | CA383499285 | VWF | c.4792G>C (p.Glu1598Gln) n.421-24692G>C | dbSNP |
12 | g.6018626C>T | CA6402458 | VWF | c.4792G>A (p.Glu1598Lys) n.421-24692G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018627C>A | CA478502034 | VWF | c.4791G>T (p.Arg1597=) n.421-24693G>T | |
12 | g.6018627C>G | CA478502036 | VWF | c.4791G>C (p.Arg1597=) n.421-24693G>C | |
12 | g.6018627C>T | CA478502038 | VWF | c.4791G>A (p.Arg1597=) n.421-24693G>A | COSMIC |
12 | g.6018628C>A | CA228659 | VWF | c.4790G>T (p.Arg1597Leu) n.421-24694G>T | ClinVar dbSNP COSMIC |
12 | g.6018628C= | CA2013872604 | VWF | c.4790G= (p.Arg1597=) n.421-24694G= | |
12 | g.6018628C>G | CA383499291 | VWF | c.4790G>C (p.Arg1597Pro) n.421-24694G>C | |
12 | g.6018628C>T | CA228657 | VWF | c.4790G>A (p.Arg1597Gln) n.421-24694G>A | ClinVar dbSNP |
12 | g.6018629G>A | CA114117 | VWF | c.4789C>T (p.Arg1597Trp) n.421-24695C>T | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.6018629G>C | CA228653 | VWF | c.4789C>G (p.Arg1597Gly) n.421-24695C>G | ClinVar dbSNP |
12 | g.6018629G= | CA2013872605 | VWF | c.4789C= (p.Arg1597=) n.421-24695C= | |
12 | g.6018629G>T | CA478502045 | VWF | c.4789C>A (p.Arg1597=) n.421-24695C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018630G>A | CA6402459 | VWF | c.4788C>T (p.Asp1596=) n.421-24696C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018630G>C | CA383499301 | VWF | c.4788C>G (p.Asp1596Glu) n.421-24696C>G | |
12 | g.6018630G= | CA2013872606 | VWF | c.4788C= (p.Asp1596=) n.421-24696C= | |
12 | g.6018630G>T | CA383499303 | VWF | c.4788C>A (p.Asp1596Glu) n.421-24696C>A | |
12 | g.6018631T>A | CA6402460 | VWF | c.4787A>T (p.Asp1596Val) n.421-24697A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018631T>C | CA383499312 | VWF | c.4787A>G (p.Asp1596Gly) n.421-24697A>G | |
12 | g.6018631T>G | CA383499307 | VWF | c.4787A>C (p.Asp1596Ala) n.421-24697A>C | |
12 | g.6018631T= | CA2013872607 | VWF | c.4787A= (p.Asp1596=) n.421-24697A= | |
12 | g.6018632C>A | CA383499317 | VWF | c.4786G>T (p.Asp1596Tyr) n.421-24698G>T | |
12 | g.6018632C= | CA2013872608 | VWF | c.4786G= (p.Asp1596=) n.421-24698G= | |
12 | g.6018632C>G | CA6402461 | VWF | c.4786G>C (p.Asp1596His) n.421-24698G>C | dbSNP ExAC gnomAD v2 |
12 | g.6018632C>T | CA383499319 | VWF | c.4786G>A (p.Asp1596Asn) n.421-24698G>A | |
12 | g.6018633A= | CA2013872609 | VWF | c.4785T= (p.Gly1595=) n.421-24699T= | |
12 | g.6018633A>C | CA478502053 | VWF | c.4785T>G (p.Gly1595=) n.421-24699T>G | dbSNP |
12 | g.6018633A>G | CA478502055 | VWF | c.4785T>C (p.Gly1595=) n.421-24699T>C | |
12 | g.6018633A>T | CA478502057 | VWF | c.4785T>A (p.Gly1595=) n.421-24699T>A | |
12 | g.6018634C>A | CA383499330 | VWF | c.4784G>T (p.Gly1595Val) n.421-24700G>T | |
12 | g.6018634C>G | CA383499332 | VWF | c.4784G>C (p.Gly1595Ala) n.421-24700G>C | gnomAD v4 |
12 | g.6018634C>T | CA383499334 | VWF | c.4784G>A (p.Gly1595Asp) n.421-24700G>A | COSMIC |
12 | g.6018635C>A | CA383499338 | VWF | c.4783G>T (p.Gly1595Cys) n.421-24701G>T | |
12 | g.6018635C>G | CA383499341 | VWF | c.4783G>C (p.Gly1595Arg) n.421-24701G>C | |
12 | g.6018635C>T | CA383499343 | VWF | c.4783G>A (p.Gly1595Ser) n.421-24701G>A | |
12 | g.6018636C>A | CA383499347 | VWF | c.4782G>T (p.Gln1594His) n.421-24702G>T | |
12 | g.6018636C>G | CA383499349 | VWF | c.4782G>C (p.Gln1594His) n.421-24702G>C | |
12 | g.6018636C>T | CA478502065 | VWF | c.4782G>A (p.Gln1594=) n.421-24702G>A | |
12 | g.6018637T>A | CA383499354 | VWF | c.4781A>T (p.Gln1594Leu) n.421-24703A>T | |
12 | g.6018637T>C | CA6402462 | VWF | c.4781A>G (p.Gln1594Arg) n.421-24703A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018637T>G | CA383499360 | VWF | c.4781A>C (p.Gln1594Pro) n.421-24703A>C | |
12 | g.6018637T= | CA2013872610 | VWF | c.4781A= (p.Gln1594=) n.421-24703A= | |
12 | g.6018638G>A | CA383499361 | VWF | c.4780C>T (p.Gln1594Ter) n.421-24704C>T | |
12 | g.6018638G>C | CA383499362 | VWF | c.4780C>G (p.Gln1594Glu) n.421-24704C>G | |
12 | g.6018638G>T | CA383499363 | VWF | c.4780C>A (p.Gln1594Lys) n.421-24704C>A | |
12 | g.6018639G>A | CA478502073 | VWF | c.4779C>T (p.Ser1593=) n.421-24705C>T | dbSNP |
12 | g.6018639G>C | CA383499373 | VWF | c.4779C>G (p.Ser1593Arg) n.421-24705C>G | |
12 | g.6018639G= | CA2013872611 | VWF | c.4779C= (p.Ser1593=) n.421-24705C= | |
12 | g.6018639G>T | CA383499367 | VWF | c.4779C>A (p.Ser1593Arg) n.421-24705C>A | gnomAD v4 |
12 | g.6018640C>A | CA383499378 | VWF | c.4778G>T (p.Ser1593Ile) n.421-24706G>T | |
12 | g.6018640C>G | CA383499382 | VWF | c.4778G>C (p.Ser1593Thr) n.421-24706G>C | |
12 | g.6018640C>T | CA383499383 | VWF | c.4778G>A (p.Ser1593Asn) n.421-24706G>A | gnomAD v4 |
12 | g.6018641T>A | CA383499384 | VWF | c.4777A>T (p.Ser1593Cys) n.421-24707A>T | COSMIC |
12 | g.6018641T>C | CA383499386 | VWF | c.4777A>G (p.Ser1593Gly) n.421-24707A>G | |
12 | g.6018641T>G | CA383499389 | VWF | c.4777A>C (p.Ser1593Arg) n.421-24707A>C | |
12 | g.6018642G>A | CA478502083 | VWF | c.4776C>T (p.Val1592=) n.421-24708C>T | |
12 | g.6018642G>C | CA478502087 | VWF | c.4776C>G (p.Val1592=) n.421-24708C>G | |
12 | g.6018642G>T | CA478502085 | VWF | c.4776C>A (p.Val1592=) n.421-24708C>A | gnomAD v4 |
12 | g.6018643A>C | CA383499398 | VWF | c.4775T>G (p.Val1592Gly) n.421-24709T>G | |
12 | g.6018643A>G | CA383499392 | VWF | c.4775T>C (p.Val1592Ala) n.421-24709T>C | |
12 | g.6018643A>T | CA383499395 | VWF | c.4775T>A (p.Val1592Asp) n.421-24709T>A | |
12 | g.6018644C>A | CA383499403 | VWF | c.4774G>T (p.Val1592Phe) n.421-24710G>T | |
12 | g.6018644C>G | CA383499408 | VWF | c.4774G>C (p.Val1592Leu) n.421-24710G>C | gnomAD v4 |
12 | g.6018644C>T | CA383499412 | VWF | c.4774G>A (p.Val1592Ile) n.421-24710G>A | |
12 | g.6018645C>A | CA383499417 | VWF | c.4773G>T (p.Leu1591Phe) n.421-24711G>T | |
12 | g.6018645C>G | CA383499419 | VWF | c.4773G>C (p.Leu1591Phe) n.421-24711G>C | |
12 | g.6018645C>T | CA478502095 | VWF | c.4773G>A (p.Leu1591=) n.421-24711G>A | |
12 | g.6018646A>C | CA383499426 | VWF | c.4772T>G (p.Leu1591Trp) n.421-24712T>G | |
12 | g.6018646A>G | CA383499422 | VWF | c.4772T>C (p.Leu1591Ser) n.421-24712T>C | |
12 | g.6018646A>T | CA383499424 | VWF | c.4772T>A (p.Leu1591Ter) n.421-24712T>A | |
12 | g.6018647A>C | CA383499431 | VWF | c.4771T>G (p.Leu1591Val) n.421-24713T>G | |
12 | g.6018647A>G | CA478502101 | VWF | c.4771T>C (p.Leu1591=) n.421-24713T>C | |
12 | g.6018647A>T | CA383499434 | VWF | c.4771T>A (p.Leu1591Met) n.421-24713T>A | |
12 | g.6018648G>A | CA478502104 | VWF | c.4770C>T (p.Phe1590=) n.421-24714C>T | |
12 | g.6018648G>C | CA383499439 | VWF | c.4770C>G (p.Phe1590Leu) n.421-24714C>G | |
12 | g.6018648G>T | CA383499442 | VWF | c.4770C>A (p.Phe1590Leu) n.421-24714C>A | |
12 | g.6018649A>C | CA383499450 | VWF | c.4769T>G (p.Phe1590Cys) n.421-24715T>G | |
12 | g.6018649A>G | CA383499454 | VWF | c.4769T>C (p.Phe1590Ser) n.421-24715T>C | |
12 | g.6018649A>T | CA383499458 | VWF | c.4769T>A (p.Phe1590Tyr) n.421-24715T>A | |
12 | g.6018650A>C | CA383499462 | VWF | c.4768T>G (p.Phe1590Val) n.421-24716T>G | |
12 | g.6018650A>G | CA383499460 | VWF | c.4768T>C (p.Phe1590Leu) n.421-24716T>C | |
12 | g.6018650A>T | CA383499461 | VWF | c.4768T>A (p.Phe1590Ile) n.421-24716T>A | |
12 | g.6018651G>A | CA478502111 | VWF | c.4767C>T (p.Ser1589=) n.421-24717C>T | |
12 | g.6018651G>C | CA383499464 | VWF | c.4767C>G (p.Ser1589Arg) n.421-24717C>G | |
12 | g.6018651G>T | CA383499466 | VWF | c.4767C>A (p.Ser1589Arg) n.421-24717C>A | |
12 | g.6018652C>A | CA383499472 | VWF | c.4766G>T (p.Ser1589Ile) n.421-24718G>T | |
12 | g.6018652C= | CA2013872612 | VWF | c.4766G= (p.Ser1589=) n.421-24718G= | |
12 | g.6018652C>G | CA383499473 | VWF | c.4766G>C (p.Ser1589Thr) n.421-24718G>C | |
12 | g.6018652C>T | CA383499477 | VWF | c.4766G>A (p.Ser1589Asn) n.421-24718G>A | dbSNP |
12 | g.6018653T>A | CA383499480 | VWF | c.4765A>T (p.Ser1589Cys) n.421-24719A>T | |
12 | g.6018653T>C | CA383499490 | VWF | c.4765A>G (p.Ser1589Gly) n.421-24719A>G | |
12 | g.6018653T>G | CA383499484 | VWF | c.4765A>C (p.Ser1589Arg) n.421-24719A>C | |
12 | g.6018654G>A | CA6402463 | VWF | c.4764C>T (p.His1588=) n.421-24720C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.6018654G>C | CA383499494 | VWF | c.4764C>G (p.His1588Gln) n.421-24720C>G | |
12 | g.6018654G= | CA2013872613 | VWF | c.4764C= (p.His1588=) n.421-24720C= | |
12 | g.6018654G>T | CA383499497 | VWF | c.4764C>A (p.His1588Gln) n.421-24720C>A | |
12 | g.6018655T>A | CA383499500 | VWF | c.4763A>T (p.His1588Leu) n.421-24721A>T | |
12 | g.6018655T>C | CA383499503 | VWF | c.4763A>G (p.His1588Arg) n.421-24721A>G | |
12 | g.6018655T>G | CA383499506 | VWF | c.4763A>C (p.His1588Pro) n.421-24721A>C | |
12 | g.6018656G>A | CA383499509 | VWF | c.4762C>T (p.His1588Tyr) n.421-24722C>T | |
12 | g.6018656G>C | CA383499532 | VWF | c.4762C>G (p.His1588Asp) n.421-24722C>G | |
12 | g.6018656G>T | CA383499535 | VWF | c.4762C>A (p.His1588Asn) n.421-24722C>A | |
12 | g.6018657G>A | CA232297758 | VWF | c.4761C>T (p.Asp1587=) n.421-24723C>T | dbSNP gnomAD v4 |
12 | g.6018657G>C | CA383499540 | VWF | c.4761C>G (p.Asp1587Glu) n.421-24723C>G | |
12 | g.6018657G= | CA2013872614 | VWF | c.4761C= (p.Asp1587=) n.421-24723C= | |
12 | g.6018657G>T | CA383499544 | VWF | c.4761C>A (p.Asp1587Glu) n.421-24723C>A | |
12 | g.6018658T>A | CA383499550 | VWF | c.4760A>T (p.Asp1587Val) n.421-24724A>T | |
12 | g.6018658T>C | CA383499558 | VWF | c.4760A>G (p.Asp1587Gly) n.421-24724A>G | |
12 | g.6018658T>G | CA383499554 | VWF | c.4760A>C (p.Asp1587Ala) n.421-24724A>C | |
12 | g.6018659C>A | CA383499564 | VWF | c.4759G>T (p.Asp1587Tyr) n.421-24725G>T | gnomAD v4 |
12 | g.6018659C>G | CA383499569 | VWF | c.4759G>C (p.Asp1587His) n.421-24725G>C | |
12 | g.6018659C>T | CA383499566 | VWF | c.4759G>A (p.Asp1587Asn) n.421-24725G>A | gnomAD v4 |
12 | g.6018660del | CA2575053888 | VWF | c.4758del (p.Asp1587ThrfsTer?) n.421-24726del | |
12 | g.6018660A>C | CA478502132 | VWF | c.4758T>G (p.Ser1586=) n.421-24726T>G | |
12 | g.6018660A>G | CA478502133 | VWF | c.4758T>C (p.Ser1586=) n.421-24726T>C | |
12 | g.6018660A>T | CA478502135 | VWF | c.4758T>A (p.Ser1586=) n.421-24726T>A | |
12 | g.6018661G>A | CA6402464 | VWF | c.4757C>T (p.Ser1586Phe) n.421-24727C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018661G>C | CA383499576 | VWF | c.4757C>G (p.Ser1586Cys) n.421-24727C>G | |
12 | g.6018661G= | CA2013872615 | VWF | c.4757C= (p.Ser1586=) n.421-24727C= | |
12 | g.6018661G>T | CA383499578 | VWF | c.4757C>A (p.Ser1586Tyr) n.421-24727C>A | |
12 | g.6018662A>C | CA383499583 | VWF | c.4756T>G (p.Ser1586Ala) n.421-24728T>G | |
12 | g.6018662A>G | CA383499586 | VWF | c.4756T>C (p.Ser1586Pro) n.421-24728T>C | |
12 | g.6018662A>T | CA383499590 | VWF | c.4756T>A (p.Ser1586Thr) n.421-24728T>A | |
12 | g.6018663G>A | CA232297759 | VWF | c.4755C>T (p.Leu1585=) n.421-24729C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018663G>C | CA478502143 | VWF | c.4755C>G (p.Leu1585=) n.421-24729C>G | |
12 | g.6018663G= | CA2013872616 | VWF | c.4755C= (p.Leu1585=) n.421-24729C= | |
12 | g.6018663G>T | CA478502144 | VWF | c.4755C>A (p.Leu1585=) n.421-24729C>A | |
12 | g.6018664A>C | CA383499596 | VWF | c.4754T>G (p.Leu1585Arg) n.421-24730T>G | |
12 | g.6018664A>G | CA383499599 | VWF | c.4754T>C (p.Leu1585Pro) n.421-24730T>C | |
12 | g.6018664A>T | CA383499604 | VWF | c.4754T>A (p.Leu1585His) n.421-24730T>A | COSMIC |
12 | g.6018665G>A | CA383499608 | VWF | c.4753C>T (p.Leu1585Phe) n.421-24731C>T | |
12 | g.6018665G>C | CA383499612 | VWF | c.4753C>G (p.Leu1585Val) n.421-24731C>G | |
12 | g.6018665G>T | CA383499615 | VWF | c.4753C>A (p.Leu1585Ile) n.421-24731C>A | |
12 | g.6018666G>A | CA478502152 | VWF | c.4752C>T (p.Tyr1584=) n.421-24732C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.6018666G>C | CA383499623 | VWF | c.4752C>G (p.Tyr1584Ter) n.421-24732C>G | |
12 | g.6018666G= | CA2013872617 | VWF | c.4752C= (p.Tyr1584=) n.421-24732C= | |
12 | g.6018666G>T | CA383499619 | VWF | c.4752C>A (p.Tyr1584Ter) n.421-24732C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.6018667T>A | CA383499630 | VWF | c.4751A>T (p.Tyr1584Phe) n.421-24733A>T | gnomAD v4 |
12 | g.6018667T>C | CA114162 | VWF | c.4751A>G (p.Tyr1584Cys) n.421-24733A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018667T>G | CA383499638 | VWF | c.4751A>C (p.Tyr1584Ser) n.421-24733A>C | |
12 | g.6018667T= | CA2013872618 | VWF | c.4751A= (p.Tyr1584=) n.421-24733A= | |
12 | g.6018668A>C | CA383499646 | VWF | c.4750T>G (p.Tyr1584Asp) n.421-24734T>G | |
12 | g.6018668A>G | CA383499649 | VWF | c.4750T>C (p.Tyr1584His) n.421-24734T>C | |
12 | g.6018668A>T | CA383499653 | VWF | c.4750T>A (p.Tyr1584Asn) n.421-24734T>A | |
12 | g.6018669C>A | CA478502161 | VWF | c.4749G>T (p.Arg1583=) n.421-24735G>T | |
12 | g.6018669C= | CA2013872619 | VWF | c.4749G= (p.Arg1583=) n.421-24735G= | |
12 | g.6018669C>G | CA478502162 | VWF | c.4749G>C (p.Arg1583=) n.421-24735G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018669C>T | CA478502163 | VWF | c.4749G>A (p.Arg1583=) n.421-24735G>A | gnomAD v4 |
12 | g.6018670C>A | CA383499657 | VWF | c.4748G>T (p.Arg1583Leu) n.421-24736G>T | |
12 | g.6018670C= | CA2013872620 | VWF | c.4748G= (p.Arg1583=) n.421-24736G= | |
12 | g.6018670C>G | CA383499660 | VWF | c.4748G>C (p.Arg1583Pro) n.421-24736G>C | |
12 | g.6018670C>T | CA6402465 | VWF | c.4748G>A (p.Arg1583Gln) n.421-24736G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018671G>A | CA228651 | VWF | c.4747C>T (p.Arg1583Trp) n.421-24737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.6018671G>C | CA383499672 | VWF | c.4747C>G (p.Arg1583Gly) n.421-24737C>G | |
12 | g.6018671G= | CA2013872621 | VWF | c.4747C= (p.Arg1583=) n.421-24737C= | |
12 | g.6018671G>T | CA478502169 | VWF | c.4747C>A (p.Arg1583=) n.421-24737C>A | gnomAD v4 |
12 | g.6018672C>A | CA478502396 | VWF | c.4746G>T (p.Leu1582=) n.421-24738G>T | |
12 | g.6018672C>G | CA478502398 | VWF | c.4746G>C (p.Leu1582=) n.421-24738G>C | |
12 | g.6018672C>T | CA478502397 | VWF | c.4746G>A (p.Leu1582=) n.421-24738G>A |