Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.186287782_186287789delinsATCTGTGCCA1519939437F11,F11-AS1c.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=)
4g.186287783T>ACA358945666F11,F11-AS1c.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)
4g.186287783T>CCA358945667F11,F11-AS1c.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)
4g.186287783T>GCA358945668F11,F11-AS1c.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)
4g.186287783_186287789delCA16040951F11,F11-AS1c.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
4g.186287784C>ACA442641153F11,F11-AS1c.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=)
4g.186287784C>GCA358945669F11,F11-AS1c.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)
4g.186287784C>TCA442641154F11,F11-AS1c.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=)
4g.186287785T>ACA358945670F11,F11-AS1c.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)
4g.186287785T>CCA358945672F11,F11-AS1c.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)
4g.186287785T>GCA358945671F11,F11-AS1c.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)
4g.186287786G>ACA358945673F11,F11-AS1c.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
4g.186287786G>CCA358945674F11,F11-AS1c.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)
4g.186287786G=CA1519939438F11,F11-AS1c.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=)
4g.186287786G>TCA358945675F11,F11-AS1c.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)
4g.186287787T>ACA358945676F11,F11-AS1c.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
4g.186287787T>CCA442641155F11,F11-AS1c.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=)
4g.186287787T>GCA358945677F11,F11-AS1c.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)
4g.186287788G>ACA358945678F11,F11-AS1c.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)
4g.186287788G>CCA358945679F11,F11-AS1c.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)
4g.186287788G>TCA358945680F11,F11-AS1c.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)
4g.186287789C>ACA358945681F11,F11-AS1c.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)
4g.186287789C>GCA358945682F11,F11-AS1c.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)
4g.186287789C>TCA358945683F11,F11-AS1c.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)
4g.186287790C>ACA442641159F11,F11-AS1c.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=)
4g.186287790C=CA1519939439F11,F11-AS1c.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=)
4g.186287790C>GCA442641160F11,F11-AS1c.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=)
4g.186287790C>TCA3164072F11,F11-AS1c.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
4g.186287790_186287791delinsCGCA1519939440F11,F11-AS1c.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=)
4g.186287791G>ACA3164073F11,F11-AS1c.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
4g.186287791G>CCA358945684F11,F11-AS1c.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)
4g.186287791G=CA1519939441F11,F11-AS1c.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=)
4g.186287791G>TCA358945685F11,F11-AS1c.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)
4g.186287792delCA1071927817F11,F11-AS1c.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
4g.186287792G>ACA358945686F11,F11-AS1c.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)
4g.186287792G>CCA358945688F11,F11-AS1c.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)
4g.186287792G>TCA358945687F11,F11-AS1c.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)
4g.186287793C>ACA442641164F11,F11-AS1c.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
4g.186287793C>GCA442641165F11,F11-AS1c.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=)
4g.186287793C>TCA442641166F11,F11-AS1c.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=)
4g.186287794T>ACA358945689F11,F11-AS1c.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)
4g.186287794T>CCA358945690F11,F11-AS1c.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
4g.186287794T>GCA358945691F11,F11-AS1c.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)
4g.186287794T=CA1519939442F11,F11-AS1c.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=)
4g.186287795A>CCA358945692F11,F11-AS1c.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)
4g.186287795A>GCA358945693F11,F11-AS1c.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)
4g.186287795A>TCA358945694F11,F11-AS1c.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)
4g.186287796C>ACA358945695F11,F11-AS1c.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)
4g.186287796C>GCA358945696F11,F11-AS1c.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)
4g.186287796C>TCA442641168F11,F11-AS1c.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

Number of alleles fetched