Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186287782_186287789delinsATCTGTGC | CA1519939437 | F11,F11-AS1 | c.1675_1682delinsATCTGTGC (p.Ile559=) c.275_282delinsATCTGTGC c.1513_1520delinsATCTGTGC (p.Ile505=) n.194_201delinsATCTGTGC n.1066+639_1066+646delinsGCACAGAT c.1678_1685delinsATCTGTGC (p.Ile560=) c.1582_1589delinsATCTGTGC (p.Ile528=) c.1408_1415delinsATCTGTGC (p.Ile470=) c.1630_1637delinsATCTGTGC (p.Ile544=) | |
4 | g.186287783T>A | CA358945666 | F11,F11-AS1 | c.1676T>A (p.Ile559Asn) c.276T>A c.1514T>A (p.Ile505Asn) n.195T>A n.1066+645A>T c.1679T>A (p.Ile560Asn) c.1583T>A (p.Ile528Asn) c.1409T>A (p.Ile470Asn) c.1631T>A (p.Ile544Asn) | |
4 | g.186287783T>C | CA358945667 | F11,F11-AS1 | c.1676T>C (p.Ile559Thr) c.276T>C c.1514T>C (p.Ile505Thr) n.195T>C n.1066+645A>G c.1679T>C (p.Ile560Thr) c.1583T>C (p.Ile528Thr) c.1409T>C (p.Ile470Thr) c.1631T>C (p.Ile544Thr) | |
4 | g.186287783T>G | CA358945668 | F11,F11-AS1 | c.1676T>G (p.Ile559Ser) c.276T>G c.1514T>G (p.Ile505Ser) n.195T>G n.1066+645A>C c.1679T>G (p.Ile560Ser) c.1583T>G (p.Ile528Ser) c.1409T>G (p.Ile470Ser) c.1631T>G (p.Ile544Ser) | |
4 | g.186287783_186287789del | CA16040951 | F11,F11-AS1 | c.1676_1682del (p.Ile559ThrfsTer30) c.276_282del c.1514_1520del (p.Ile505ThrfsTer30) n.195_201del n.1066+639_1066+645del c.1679_1685del (p.Ile560ThrfsTer30) c.1583_1589del (p.Ile528ThrfsTer30) c.1409_1415del (p.Ile470ThrfsTer30) c.1631_1637del (p.Ile544ThrfsTer30) | ClinVar dbSNP |
4 | g.186287784C>A | CA442641153 | F11,F11-AS1 | c.1677C>A (p.Ile559=) c.277C>A c.1515C>A (p.Ile505=) n.196C>A n.1066+644G>T c.1680C>A (p.Ile560=) c.1584C>A (p.Ile528=) c.1410C>A (p.Ile470=) c.1632C>A (p.Ile544=) | |
4 | g.186287784C>G | CA358945669 | F11,F11-AS1 | c.1677C>G (p.Ile559Met) c.277C>G c.1515C>G (p.Ile505Met) n.196C>G n.1066+644G>C c.1680C>G (p.Ile560Met) c.1584C>G (p.Ile528Met) c.1410C>G (p.Ile470Met) c.1632C>G (p.Ile544Met) | |
4 | g.186287784C>T | CA442641154 | F11,F11-AS1 | c.1677C>T (p.Ile559=) c.277C>T c.1515C>T (p.Ile505=) n.196C>T n.1066+644G>A c.1680C>T (p.Ile560=) c.1584C>T (p.Ile528=) c.1410C>T (p.Ile470=) c.1632C>T (p.Ile544=) | |
4 | g.186287785T>A | CA358945670 | F11,F11-AS1 | c.1678T>A (p.Cys560Ser) c.278T>A c.1516T>A (p.Cys506Ser) n.197T>A n.1066+643A>T c.1681T>A (p.Cys561Ser) c.1585T>A (p.Cys529Ser) c.1411T>A (p.Cys471Ser) c.1633T>A (p.Cys545Ser) | |
4 | g.186287785T>C | CA358945672 | F11,F11-AS1 | c.1678T>C (p.Cys560Arg) c.278T>C c.1516T>C (p.Cys506Arg) n.197T>C n.1066+643A>G c.1681T>C (p.Cys561Arg) c.1585T>C (p.Cys529Arg) c.1411T>C (p.Cys471Arg) c.1633T>C (p.Cys545Arg) | |
4 | g.186287785T>G | CA358945671 | F11,F11-AS1 | c.1678T>G (p.Cys560Gly) c.278T>G c.1516T>G (p.Cys506Gly) n.197T>G n.1066+643A>C c.1681T>G (p.Cys561Gly) c.1585T>G (p.Cys529Gly) c.1411T>G (p.Cys471Gly) c.1633T>G (p.Cys545Gly) | |
4 | g.186287786G>A | CA358945673 | F11,F11-AS1 | c.1679G>A (p.Cys560Tyr) c.279G>A c.1517G>A (p.Cys506Tyr) n.198G>A n.1066+642C>T c.1682G>A (p.Cys561Tyr) c.1586G>A (p.Cys529Tyr) c.1412G>A (p.Cys471Tyr) c.1634G>A (p.Cys545Tyr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186287786G>C | CA358945674 | F11,F11-AS1 | c.1679G>C (p.Cys560Ser) c.279G>C c.1517G>C (p.Cys506Ser) n.198G>C n.1066+642C>G c.1682G>C (p.Cys561Ser) c.1586G>C (p.Cys529Ser) c.1412G>C (p.Cys471Ser) c.1634G>C (p.Cys545Ser) | |
4 | g.186287786G= | CA1519939438 | F11,F11-AS1 | c.1679G= (p.Cys560=) c.279G= c.1517G= (p.Cys506=) n.198G= n.1066+642C= c.1682G= (p.Cys561=) c.1586G= (p.Cys529=) c.1412G= (p.Cys471=) c.1634G= (p.Cys545=) | |
4 | g.186287786G>T | CA358945675 | F11,F11-AS1 | c.1679G>T (p.Cys560Phe) c.279G>T c.1517G>T (p.Cys506Phe) n.198G>T n.1066+642C>A c.1682G>T (p.Cys561Phe) c.1586G>T (p.Cys529Phe) c.1412G>T (p.Cys471Phe) c.1634G>T (p.Cys545Phe) | |
4 | g.186287787T>A | CA358945676 | F11,F11-AS1 | c.1680T>A (p.Cys560Ter) c.280T>A c.1518T>A (p.Cys506Ter) n.199T>A n.1066+641A>T c.1683T>A (p.Cys561Ter) c.1587T>A (p.Cys529Ter) c.1413T>A (p.Cys471Ter) c.1635T>A (p.Cys545Ter) | gnomAD v4 |
4 | g.186287787T>C | CA442641155 | F11,F11-AS1 | c.1680T>C (p.Cys560=) c.280T>C c.1518T>C (p.Cys506=) n.199T>C n.1066+641A>G c.1683T>C (p.Cys561=) c.1587T>C (p.Cys529=) c.1413T>C (p.Cys471=) c.1635T>C (p.Cys545=) | |
4 | g.186287787T>G | CA358945677 | F11,F11-AS1 | c.1680T>G (p.Cys560Trp) c.280T>G c.1518T>G (p.Cys506Trp) n.199T>G n.1066+641A>C c.1683T>G (p.Cys561Trp) c.1587T>G (p.Cys529Trp) c.1413T>G (p.Cys471Trp) c.1635T>G (p.Cys545Trp) | |
4 | g.186287788G>A | CA358945678 | F11,F11-AS1 | c.1681G>A (p.Ala561Thr) c.281G>A c.1519G>A (p.Ala507Thr) n.200G>A n.1066+640C>T c.1684G>A (p.Ala562Thr) c.1588G>A (p.Ala530Thr) c.1414G>A (p.Ala472Thr) c.1636G>A (p.Ala546Thr) | |
4 | g.186287788G>C | CA358945679 | F11,F11-AS1 | c.1681G>C (p.Ala561Pro) c.281G>C c.1519G>C (p.Ala507Pro) n.200G>C n.1066+640C>G c.1684G>C (p.Ala562Pro) c.1588G>C (p.Ala530Pro) c.1414G>C (p.Ala472Pro) c.1636G>C (p.Ala546Pro) | |
4 | g.186287788G>T | CA358945680 | F11,F11-AS1 | c.1681G>T (p.Ala561Ser) c.281G>T c.1519G>T (p.Ala507Ser) n.200G>T n.1066+640C>A c.1684G>T (p.Ala562Ser) c.1588G>T (p.Ala530Ser) c.1414G>T (p.Ala472Ser) c.1636G>T (p.Ala546Ser) | |
4 | g.186287789C>A | CA358945681 | F11,F11-AS1 | c.1682C>A (p.Ala561Asp) c.282C>A c.1520C>A (p.Ala507Asp) n.201C>A n.1066+639G>T c.1685C>A (p.Ala562Asp) c.1589C>A (p.Ala530Asp) c.1415C>A (p.Ala472Asp) c.1637C>A (p.Ala546Asp) | |
4 | g.186287789C>G | CA358945682 | F11,F11-AS1 | c.1682C>G (p.Ala561Gly) c.282C>G c.1520C>G (p.Ala507Gly) n.201C>G n.1066+639G>C c.1685C>G (p.Ala562Gly) c.1589C>G (p.Ala530Gly) c.1415C>G (p.Ala472Gly) c.1637C>G (p.Ala546Gly) | |
4 | g.186287789C>T | CA358945683 | F11,F11-AS1 | c.1682C>T (p.Ala561Val) c.282C>T c.1520C>T (p.Ala507Val) n.201C>T n.1066+639G>A c.1685C>T (p.Ala562Val) c.1589C>T (p.Ala530Val) c.1415C>T (p.Ala472Val) c.1637C>T (p.Ala546Val) | |
4 | g.186287790C>A | CA442641159 | F11,F11-AS1 | c.1683C>A (p.Ala561=) c.283C>A c.1521C>A (p.Ala507=) n.202C>A n.1066+638G>T c.1686C>A (p.Ala562=) c.1590C>A (p.Ala530=) c.1416C>A (p.Ala472=) c.1638C>A (p.Ala546=) | |
4 | g.186287790C= | CA1519939439 | F11,F11-AS1 | c.1683C= (p.Ala561=) c.283C= c.1521C= (p.Ala507=) n.202C= n.1066+638G= c.1686C= (p.Ala562=) c.1590C= (p.Ala530=) c.1416C= (p.Ala472=) c.1638C= (p.Ala546=) | |
4 | g.186287790C>G | CA442641160 | F11,F11-AS1 | c.1683C>G (p.Ala561=) c.283C>G c.1521C>G (p.Ala507=) n.202C>G n.1066+638G>C c.1686C>G (p.Ala562=) c.1590C>G (p.Ala530=) c.1416C>G (p.Ala472=) c.1638C>G (p.Ala546=) | |
4 | g.186287790C>T | CA3164072 | F11,F11-AS1 | c.1683C>T (p.Ala561=) c.283C>T c.1521C>T (p.Ala507=) n.202C>T n.1066+638G>A c.1686C>T (p.Ala562=) c.1590C>T (p.Ala530=) c.1416C>T (p.Ala472=) c.1638C>T (p.Ala546=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.186287790_186287791delinsCG | CA1519939440 | F11,F11-AS1 | c.1683_1684delinsCG (p.Ala561=) c.283_284delinsCG c.1521_1522delinsCG (p.Ala507=) n.202_203delinsCG n.1066+637_1066+638delinsCG c.1686_1687delinsCG (p.Ala562=) c.1590_1591delinsCG (p.Ala530=) c.1416_1417delinsCG (p.Ala472=) c.1638_1639delinsCG (p.Ala546=) | |
4 | g.186287791G>A | CA3164073 | F11,F11-AS1 | c.1684G>A (p.Gly562Ser) c.284G>A c.1522G>A (p.Gly508Ser) n.203G>A n.1066+637C>T c.1687G>A (p.Gly563Ser) c.1591G>A (p.Gly531Ser) c.1417G>A (p.Gly473Ser) c.1639G>A (p.Gly547Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186287791G>C | CA358945684 | F11,F11-AS1 | c.1684G>C (p.Gly562Arg) c.284G>C c.1522G>C (p.Gly508Arg) n.203G>C n.1066+637C>G c.1687G>C (p.Gly563Arg) c.1591G>C (p.Gly531Arg) c.1417G>C (p.Gly473Arg) c.1639G>C (p.Gly547Arg) | |
4 | g.186287791G= | CA1519939441 | F11,F11-AS1 | c.1684G= (p.Gly562=) c.284G= c.1522G= (p.Gly508=) n.203G= n.1066+637C= c.1687G= (p.Gly563=) c.1591G= (p.Gly531=) c.1417G= (p.Gly473=) c.1639G= (p.Gly547=) | |
4 | g.186287791G>T | CA358945685 | F11,F11-AS1 | c.1684G>T (p.Gly562Cys) c.284G>T c.1522G>T (p.Gly508Cys) n.203G>T n.1066+637C>A c.1687G>T (p.Gly563Cys) c.1591G>T (p.Gly531Cys) c.1417G>T (p.Gly473Cys) c.1639G>T (p.Gly547Cys) | |
4 | g.186287792del | CA1071927817 | F11,F11-AS1 | c.1685del (p.Gly562AlafsTer29) c.285del c.1523del (p.Gly508AlafsTer29) n.204del n.1066+637del c.1688del (p.Gly563AlafsTer29) c.1592del (p.Gly531AlafsTer29) c.1418del (p.Gly473AlafsTer29) c.1640del (p.Gly547AlafsTer29) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186287792G>A | CA358945686 | F11,F11-AS1 | c.1685G>A (p.Gly562Asp) c.285G>A c.1523G>A (p.Gly508Asp) n.204G>A n.1066+636C>T c.1688G>A (p.Gly563Asp) c.1592G>A (p.Gly531Asp) c.1418G>A (p.Gly473Asp) c.1640G>A (p.Gly547Asp) | |
4 | g.186287792G>C | CA358945688 | F11,F11-AS1 | c.1685G>C (p.Gly562Ala) c.285G>C c.1523G>C (p.Gly508Ala) n.204G>C n.1066+636C>G c.1688G>C (p.Gly563Ala) c.1592G>C (p.Gly531Ala) c.1418G>C (p.Gly473Ala) c.1640G>C (p.Gly547Ala) | |
4 | g.186287792G>T | CA358945687 | F11,F11-AS1 | c.1685G>T (p.Gly562Val) c.285G>T c.1523G>T (p.Gly508Val) n.204G>T n.1066+636C>A c.1688G>T (p.Gly563Val) c.1592G>T (p.Gly531Val) c.1418G>T (p.Gly473Val) c.1640G>T (p.Gly547Val) | |
4 | g.186287793C>A | CA442641164 | F11,F11-AS1 | c.1686C>A (p.Gly562=) c.286C>A c.1524C>A (p.Gly508=) n.205C>A n.1066+635G>T c.1689C>A (p.Gly563=) c.1593C>A (p.Gly531=) c.1419C>A (p.Gly473=) c.1641C>A (p.Gly547=) | gnomAD v3 gnomAD v4 |
4 | g.186287793C>G | CA442641165 | F11,F11-AS1 | c.1686C>G (p.Gly562=) c.286C>G c.1524C>G (p.Gly508=) n.205C>G n.1066+635G>C c.1689C>G (p.Gly563=) c.1593C>G (p.Gly531=) c.1419C>G (p.Gly473=) c.1641C>G (p.Gly547=) | |
4 | g.186287793C>T | CA442641166 | F11,F11-AS1 | c.1686C>T (p.Gly562=) c.286C>T c.1524C>T (p.Gly508=) n.205C>T n.1066+635G>A c.1689C>T (p.Gly563=) c.1593C>T (p.Gly531=) c.1419C>T (p.Gly473=) c.1641C>T (p.Gly547=) | |
4 | g.186287794T>A | CA358945689 | F11,F11-AS1 | c.1687T>A (p.Tyr563Asn) c.287T>A c.1525T>A (p.Tyr509Asn) n.206T>A n.1066+634A>T c.1690T>A (p.Tyr564Asn) c.1594T>A (p.Tyr532Asn) c.1420T>A (p.Tyr474Asn) c.1642T>A (p.Tyr548Asn) | |
4 | g.186287794T>C | CA358945690 | F11,F11-AS1 | c.1687T>C (p.Tyr563His) c.287T>C c.1525T>C (p.Tyr509His) n.206T>C n.1066+634A>G c.1690T>C (p.Tyr564His) c.1594T>C (p.Tyr532His) c.1420T>C (p.Tyr474His) c.1642T>C (p.Tyr548His) | dbSNP |
4 | g.186287794T>G | CA358945691 | F11,F11-AS1 | c.1687T>G (p.Tyr563Asp) c.287T>G c.1525T>G (p.Tyr509Asp) n.206T>G n.1066+634A>C c.1690T>G (p.Tyr564Asp) c.1594T>G (p.Tyr532Asp) c.1420T>G (p.Tyr474Asp) c.1642T>G (p.Tyr548Asp) | |
4 | g.186287794T= | CA1519939442 | F11,F11-AS1 | c.1687T= (p.Tyr563=) c.287T= c.1525T= (p.Tyr509=) n.206T= n.1066+634A= c.1690T= (p.Tyr564=) c.1594T= (p.Tyr532=) c.1420T= (p.Tyr474=) c.1642T= (p.Tyr548=) | |
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 |