Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186287795A>C | CA358945692 | F11,F11-AS1 | c.1688A>C (p.Tyr563Ser) c.288A>C c.1526A>C (p.Tyr509Ser) n.207A>C n.1066+633T>G c.1691A>C (p.Tyr564Ser) c.1595A>C (p.Tyr532Ser) c.1421A>C (p.Tyr474Ser) c.1643A>C (p.Tyr548Ser) | |
4 | g.186287795A>G | CA358945693 | F11,F11-AS1 | c.1688A>G (p.Tyr563Cys) c.288A>G c.1526A>G (p.Tyr509Cys) n.207A>G n.1066+633T>C c.1691A>G (p.Tyr564Cys) c.1595A>G (p.Tyr532Cys) c.1421A>G (p.Tyr474Cys) c.1643A>G (p.Tyr548Cys) | |
4 | g.186287795A>T | CA358945694 | F11,F11-AS1 | c.1688A>T (p.Tyr563Phe) c.288A>T c.1526A>T (p.Tyr509Phe) n.207A>T n.1066+633T>A c.1691A>T (p.Tyr564Phe) c.1595A>T (p.Tyr532Phe) c.1421A>T (p.Tyr474Phe) c.1643A>T (p.Tyr548Phe) | |
4 | g.186287796C>A | CA358945695 | F11,F11-AS1 | c.1689C>A (p.Tyr563Ter) c.289C>A c.1527C>A (p.Tyr509Ter) n.208C>A n.1066+632G>T c.1692C>A (p.Tyr564Ter) c.1596C>A (p.Tyr532Ter) c.1422C>A (p.Tyr474Ter) c.1644C>A (p.Tyr548Ter) | |
4 | g.186287796C>G | CA358945696 | F11,F11-AS1 | c.1689C>G (p.Tyr563Ter) c.289C>G c.1527C>G (p.Tyr509Ter) n.208C>G n.1066+632G>C c.1692C>G (p.Tyr564Ter) c.1596C>G (p.Tyr532Ter) c.1422C>G (p.Tyr474Ter) c.1644C>G (p.Tyr548Ter) | |
4 | g.186287796C>T | CA442641168 | F11,F11-AS1 | c.1689C>T (p.Tyr563=) c.289C>T c.1527C>T (p.Tyr509=) n.208C>T n.1066+632G>A c.1692C>T (p.Tyr564=) c.1596C>T (p.Tyr532=) c.1422C>T (p.Tyr474=) c.1644C>T (p.Tyr548=) | gnomAD v4 |
4 | g.186287797A>C | CA442641169 | F11,F11-AS1 | c.1690A>C (p.Arg564=) c.290A>C c.1528A>C (p.Arg510=) n.209A>C n.1066+631T>G c.1693A>C (p.Arg565=) c.1597A>C (p.Arg533=) c.1423A>C (p.Arg475=) c.1645A>C (p.Arg549=) | |
4 | g.186287797A>G | CA358945697 | F11,F11-AS1 | c.1690A>G (p.Arg564Gly) c.290A>G c.1528A>G (p.Arg510Gly) n.209A>G n.1066+631T>C c.1693A>G (p.Arg565Gly) c.1597A>G (p.Arg533Gly) c.1423A>G (p.Arg475Gly) c.1645A>G (p.Arg549Gly) | |
4 | g.186287797A>T | CA358945698 | F11,F11-AS1 | c.1690A>T (p.Arg564Trp) c.290A>T c.1528A>T (p.Arg510Trp) n.209A>T n.1066+631T>A c.1693A>T (p.Arg565Trp) c.1597A>T (p.Arg533Trp) c.1423A>T (p.Arg475Trp) c.1645A>T (p.Arg549Trp) | |
4 | g.186287798G>A | CA358945699 | F11,F11-AS1 | c.1691G>A (p.Arg564Lys) c.291G>A c.1529G>A (p.Arg510Lys) n.210G>A n.1066+630C>T c.1694G>A (p.Arg565Lys) c.1598G>A (p.Arg533Lys) c.1424G>A (p.Arg475Lys) c.1646G>A (p.Arg549Lys) | |
4 | g.186287798G>C | CA358945700 | F11,F11-AS1 | c.1691G>C (p.Arg564Thr) c.291G>C c.1529G>C (p.Arg510Thr) n.210G>C n.1066+630C>G c.1694G>C (p.Arg565Thr) c.1598G>C (p.Arg533Thr) c.1424G>C (p.Arg475Thr) c.1646G>C (p.Arg549Thr) | |
4 | g.186287798G>T | CA358945701 | F11,F11-AS1 | c.1691G>T (p.Arg564Met) c.291G>T c.1529G>T (p.Arg510Met) n.210G>T n.1066+630C>A c.1694G>T (p.Arg565Met) c.1598G>T (p.Arg533Met) c.1424G>T (p.Arg475Met) c.1646G>T (p.Arg549Met) | |
4 | g.186287799G>A | CA442641171 | F11,F11-AS1 | c.1692G>A (p.Arg564=) c.292G>A c.1530G>A (p.Arg510=) n.211G>A n.1066+629C>T c.1695G>A (p.Arg565=) c.1599G>A (p.Arg533=) c.1425G>A (p.Arg475=) c.1647G>A (p.Arg549=) | dbSNP |
4 | g.186287799G>C | CA358945702 | F11,F11-AS1 | c.1692G>C (p.Arg564Ser) c.292G>C c.1530G>C (p.Arg510Ser) n.211G>C n.1066+629C>G c.1695G>C (p.Arg565Ser) c.1599G>C (p.Arg533Ser) c.1425G>C (p.Arg475Ser) c.1647G>C (p.Arg549Ser) | |
4 | g.186287799G= | CA1519939443 | F11,F11-AS1 | c.1692G= (p.Arg564=) c.292G= c.1530G= (p.Arg510=) n.211G= n.1066+629C= c.1695G= (p.Arg565=) c.1599G= (p.Arg533=) c.1425G= (p.Arg475=) c.1647G= (p.Arg549=) | |
4 | g.186287799G>T | CA358945703 | F11,F11-AS1 | c.1692G>T (p.Arg564Ser) c.292G>T c.1530G>T (p.Arg510Ser) n.211G>T n.1066+629C>A c.1695G>T (p.Arg565Ser) c.1599G>T (p.Arg533Ser) c.1425G>T (p.Arg475Ser) c.1647G>T (p.Arg549Ser) | |
4 | g.186287800G>A | CA199064 | F11,F11-AS1 | c.1693G>A (p.Glu565Lys) c.293G>A c.1531G>A (p.Glu511Lys) n.212G>A n.1066+628C>T c.1696G>A (p.Glu566Lys) c.1600G>A (p.Glu534Lys) c.1426G>A (p.Glu476Lys) c.1648G>A (p.Glu550Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186287800G>C | CA358945704 | F11,F11-AS1 | c.1693G>C (p.Glu565Gln) c.293G>C c.1531G>C (p.Glu511Gln) n.212G>C n.1066+628C>G c.1696G>C (p.Glu566Gln) c.1600G>C (p.Glu534Gln) c.1426G>C (p.Glu476Gln) c.1648G>C (p.Glu550Gln) | |
4 | g.186287800G= | CA1519939444 | F11,F11-AS1 | c.1693G= (p.Glu565=) c.293G= c.1531G= (p.Glu511=) n.212G= n.1066+628C= c.1696G= (p.Glu566=) c.1600G= (p.Glu534=) c.1426G= (p.Glu476=) c.1648G= (p.Glu550=) | |
4 | g.186287800G>T | CA358945705 | F11,F11-AS1 | c.1693G>T (p.Glu565Ter) c.293G>T c.1531G>T (p.Glu511Ter) n.212G>T n.1066+628C>A c.1696G>T (p.Glu566Ter) c.1600G>T (p.Glu534Ter) c.1426G>T (p.Glu476Ter) c.1648G>T (p.Glu550Ter) | |
4 | g.186287801A>C | CA358945706 | F11,F11-AS1 | c.1694A>C (p.Glu565Ala) c.294A>C c.1532A>C (p.Glu511Ala) n.213A>C n.1066+627T>G c.1697A>C (p.Glu566Ala) c.1601A>C (p.Glu534Ala) c.1427A>C (p.Glu476Ala) c.1649A>C (p.Glu550Ala) | |
4 | g.186287801A>G | CA358945707 | F11,F11-AS1 | c.1694A>G (p.Glu565Gly) c.294A>G c.1532A>G (p.Glu511Gly) n.213A>G n.1066+627T>C c.1697A>G (p.Glu566Gly) c.1601A>G (p.Glu534Gly) c.1427A>G (p.Glu476Gly) c.1649A>G (p.Glu550Gly) | |
4 | g.186287801A>T | CA358945708 | F11,F11-AS1 | c.1694A>T (p.Glu565Val) c.294A>T c.1532A>T (p.Glu511Val) n.213A>T n.1066+627T>A c.1697A>T (p.Glu566Val) c.1601A>T (p.Glu534Val) c.1427A>T (p.Glu476Val) c.1649A>T (p.Glu550Val) | |
4 | g.186287802A>C | CA358945709 | F11,F11-AS1 | c.1695A>C (p.Glu565Asp) c.295A>C c.1533A>C (p.Glu511Asp) n.214A>C n.1066+626T>G c.1698A>C (p.Glu566Asp) c.1602A>C (p.Glu534Asp) c.1428A>C (p.Glu476Asp) c.1650A>C (p.Glu550Asp) | |
4 | g.186287802A>G | CA442641172 | F11,F11-AS1 | c.1695A>G (p.Glu565=) c.295A>G c.1533A>G (p.Glu511=) n.214A>G n.1066+626T>C c.1698A>G (p.Glu566=) c.1602A>G (p.Glu534=) c.1428A>G (p.Glu476=) c.1650A>G (p.Glu550=) | |
4 | g.186287802A>T | CA358945710 | F11,F11-AS1 | c.1695A>T (p.Glu565Asp) c.295A>T c.1533A>T (p.Glu511Asp) n.214A>T n.1066+626T>A c.1698A>T (p.Glu566Asp) c.1602A>T (p.Glu534Asp) c.1428A>T (p.Glu476Asp) c.1650A>T (p.Glu550Asp) | |
4 | g.186287803G>A | CA358945711 | F11,F11-AS1 | c.1696G>A (p.Gly566Arg) c.296G>A c.1534G>A (p.Gly512Arg) n.215G>A n.1066+625C>T c.1699G>A (p.Gly567Arg) c.1603G>A (p.Gly535Arg) c.1429G>A (p.Gly477Arg) c.1651G>A (p.Gly551Arg) | |
4 | g.186287803G>C | CA358945712 | F11,F11-AS1 | c.1696G>C (p.Gly566Arg) c.296G>C c.1534G>C (p.Gly512Arg) n.215G>C n.1066+625C>G c.1699G>C (p.Gly567Arg) c.1603G>C (p.Gly535Arg) c.1429G>C (p.Gly477Arg) c.1651G>C (p.Gly551Arg) | |
4 | g.186287803G>T | CA358945713 | F11,F11-AS1 | c.1696G>T (p.Gly566Ter) c.296G>T c.1534G>T (p.Gly512Ter) n.215G>T n.1066+625C>A c.1699G>T (p.Gly567Ter) c.1603G>T (p.Gly535Ter) c.1429G>T (p.Gly477Ter) c.1651G>T (p.Gly551Ter) | |
4 | g.186287804G>A | CA3164074 | F11,F11-AS1 | c.1697G>A (p.Gly566Glu) c.297G>A c.1535G>A (p.Gly512Glu) n.216G>A n.1066+624C>T c.1700G>A (p.Gly567Glu) c.1604G>A (p.Gly535Glu) c.1430G>A (p.Gly477Glu) c.1652G>A (p.Gly551Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186287804G>C | CA358945715 | F11,F11-AS1 | c.1697G>C (p.Gly566Ala) c.297G>C c.1535G>C (p.Gly512Ala) n.216G>C n.1066+624C>G c.1700G>C (p.Gly567Ala) c.1604G>C (p.Gly535Ala) c.1430G>C (p.Gly477Ala) c.1652G>C (p.Gly551Ala) | |
4 | g.186287804G= | CA1519939445 | F11,F11-AS1 | c.1697G= (p.Gly566=) c.297G= c.1535G= (p.Gly512=) n.216G= n.1066+624C= c.1700G= (p.Gly567=) c.1604G= (p.Gly535=) c.1430G= (p.Gly477=) c.1652G= (p.Gly551=) | |
4 | g.186287804G>T | CA358945714 | F11,F11-AS1 | c.1697G>T (p.Gly566Val) c.297G>T c.1535G>T (p.Gly512Val) n.216G>T n.1066+624C>A c.1700G>T (p.Gly567Val) c.1604G>T (p.Gly535Val) c.1430G>T (p.Gly477Val) c.1652G>T (p.Gly551Val) | |
4 | g.186287805A= | CA1519939446 | F11,F11-AS1 | c.1698A= (p.Gly566=) c.298A= c.1536A= (p.Gly512=) n.217A= n.1066+623T= c.1701A= (p.Gly567=) c.1605A= (p.Gly535=) c.1431A= (p.Gly477=) c.1653A= (p.Gly551=) | |
4 | g.186287805A>C | CA442641176 | F11,F11-AS1 | c.1698A>C (p.Gly566=) c.298A>C c.1536A>C (p.Gly512=) n.217A>C n.1066+623T>G c.1701A>C (p.Gly567=) c.1605A>C (p.Gly535=) c.1431A>C (p.Gly477=) c.1653A>C (p.Gly551=) | |
4 | g.186287805A>G | CA442641178 | F11,F11-AS1 | c.1698A>G (p.Gly566=) c.298A>G c.1536A>G (p.Gly512=) n.217A>G n.1066+623T>C c.1701A>G (p.Gly567=) c.1605A>G (p.Gly535=) c.1431A>G (p.Gly477=) c.1653A>G (p.Gly551=) | dbSNP |
4 | g.186287805A>T | CA442641179 | F11,F11-AS1 | c.1698A>T (p.Gly566=) c.298A>T c.1536A>T (p.Gly512=) n.217A>T n.1066+623T>A c.1701A>T (p.Gly567=) c.1605A>T (p.Gly535=) c.1431A>T (p.Gly477=) c.1653A>T (p.Gly551=) | |
4 | g.186287806G>A | CA358945718 | F11,F11-AS1 | c.1699G>A (p.Gly567Arg) c.299G>A c.1537G>A (p.Gly513Arg) n.218G>A n.1066+622C>T c.1702G>A (p.Gly568Arg) c.1606G>A (p.Gly536Arg) c.1432G>A (p.Gly478Arg) c.1654G>A (p.Gly552Arg) | ClinVar dbSNP gnomAD v4 |
4 | g.186287806G>C | CA358945716 | F11,F11-AS1 | c.1699G>C (p.Gly567Arg) c.299G>C c.1537G>C (p.Gly513Arg) n.218G>C n.1066+622C>G c.1702G>C (p.Gly568Arg) c.1606G>C (p.Gly536Arg) c.1432G>C (p.Gly478Arg) c.1654G>C (p.Gly552Arg) | |
4 | g.186287806G= | CA1519939447 | F11,F11-AS1 | c.1699G= (p.Gly567=) c.299G= c.1537G= (p.Gly513=) n.218G= n.1066+622C= c.1702G= (p.Gly568=) c.1606G= (p.Gly536=) c.1432G= (p.Gly478=) c.1654G= (p.Gly552=) | |
4 | g.186287806G>T | CA358945717 | F11,F11-AS1 | c.1699G>T (p.Gly567Trp) c.299G>T c.1537G>T (p.Gly513Trp) n.218G>T n.1066+622C>A c.1702G>T (p.Gly568Trp) c.1606G>T (p.Gly536Trp) c.1432G>T (p.Gly478Trp) c.1654G>T (p.Gly552Trp) | |
4 | g.186287807G>A | CA358945719 | F11,F11-AS1 | c.1700G>A (p.Gly567Glu) c.300G>A c.1538G>A (p.Gly513Glu) n.219G>A n.1066+621C>T c.1703G>A (p.Gly568Glu) c.1607G>A (p.Gly536Glu) c.1433G>A (p.Gly478Glu) c.1655G>A (p.Gly552Glu) | gnomAD v4 |
4 | g.186287807G>C | CA358945720 | F11,F11-AS1 | c.1700G>C (p.Gly567Ala) c.300G>C c.1538G>C (p.Gly513Ala) n.219G>C n.1066+621C>G c.1703G>C (p.Gly568Ala) c.1607G>C (p.Gly536Ala) c.1433G>C (p.Gly478Ala) c.1655G>C (p.Gly552Ala) | |
4 | g.186287807G>T | CA358945721 | F11,F11-AS1 | c.1700G>T (p.Gly567Val) c.300G>T c.1538G>T (p.Gly513Val) n.219G>T n.1066+621C>A c.1703G>T (p.Gly568Val) c.1607G>T (p.Gly536Val) c.1433G>T (p.Gly478Val) c.1655G>T (p.Gly552Val) | |
4 | g.186287808G>A | CA442641184 | F11,F11-AS1 | c.1701G>A (p.Gly567=) c.301G>A c.1539G>A (p.Gly513=) n.220G>A n.1066+620C>T c.1704G>A (p.Gly568=) c.1608G>A (p.Gly536=) c.1434G>A (p.Gly478=) c.1656G>A (p.Gly552=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186287808G>C | CA442641183 | F11,F11-AS1 | c.1701G>C (p.Gly567=) c.301G>C c.1539G>C (p.Gly513=) n.220G>C n.1066+620C>G c.1704G>C (p.Gly568=) c.1608G>C (p.Gly536=) c.1434G>C (p.Gly478=) c.1656G>C (p.Gly552=) | gnomAD v4 |
4 | g.186287808G= | CA1519939448 | F11,F11-AS1 | c.1701G= (p.Gly567=) c.301G= c.1539G= (p.Gly513=) n.220G= n.1066+620C= c.1704G= (p.Gly568=) c.1608G= (p.Gly536=) c.1434G= (p.Gly478=) c.1656G= (p.Gly552=) | |
4 | g.186287808G>T | CA442641182 | F11,F11-AS1 | c.1701G>T (p.Gly567=) c.301G>T c.1539G>T (p.Gly513=) n.220G>T n.1066+620C>A c.1704G>T (p.Gly568=) c.1608G>T (p.Gly536=) c.1434G>T (p.Gly478=) c.1656G>T (p.Gly552=) | |
4 | g.186287809A>C | CA358945722 | F11,F11-AS1 | c.1702A>C (p.Lys568Gln) c.302A>C c.1540A>C (p.Lys514Gln) n.221A>C n.1066+619T>G c.1705A>C (p.Lys569Gln) c.1609A>C (p.Lys537Gln) c.1435A>C (p.Lys479Gln) c.1657A>C (p.Lys553Gln) | |
4 | g.186287809A>G | CA358945723 | F11,F11-AS1 | c.1702A>G (p.Lys568Glu) c.302A>G c.1540A>G (p.Lys514Glu) n.221A>G n.1066+619T>C c.1705A>G (p.Lys569Glu) c.1609A>G (p.Lys537Glu) c.1435A>G (p.Lys479Glu) c.1657A>G (p.Lys553Glu) |