Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186288452G>A | CA358945797 | F11,F11-AS1 | c.1717-1G>A (n.1717-1G>A) c.317-1G>A c.1555-1G>A (n.1555-1G>A) n.236-1G>A n.1042C>T c.1720-1G>A (n.1720-1G>A) c.1624-1G>A (n.1624-1G>A) c.1450-1G>A (n.1450-1G>A) c.1672-1G>A (n.1672-1G>A) | gnomAD v4 |
4 | g.186288452G>C | CA358945798 | F11,F11-AS1 | c.1717-1G>C (n.1717-1G>C) c.317-1G>C c.1555-1G>C (n.1555-1G>C) n.236-1G>C n.1042C>G c.1720-1G>C (n.1720-1G>C) c.1624-1G>C (n.1624-1G>C) c.1450-1G>C (n.1450-1G>C) c.1672-1G>C (n.1672-1G>C) | gnomAD v4 |
4 | g.186288452G>T | CA358945799 | F11,F11-AS1 | c.1717-1G>T (n.1717-1G>T) c.317-1G>T c.1555-1G>T (n.1555-1G>T) n.236-1G>T n.1042C>A c.1720-1G>T (n.1720-1G>T) c.1624-1G>T (n.1624-1G>T) c.1450-1G>T (n.1450-1G>T) c.1672-1G>T (n.1672-1G>T) | |
4 | g.186288454del | CA2672904049 | F11,F11-AS1 | c.1718del c.318del c.1556del n.237del n.1042del c.1721del c.1625del c.1451del c.1673del | gnomAD v4 |
4 | g.186288453G>A | CA358945802 | F11,F11-AS1 | c.1717G>A (p.Gly573Arg) c.317G>A c.1555G>A (p.Gly519Arg) n.236G>A n.1041C>T c.1720G>A (p.Gly574Arg) c.1624G>A (p.Gly542Arg) c.1450G>A (p.Gly484Arg) c.1672G>A (p.Gly558Arg) | |
4 | g.186288453G>C | CA358945804 | F11,F11-AS1 | c.1717G>C (p.Gly573Arg) c.317G>C c.1555G>C (p.Gly519Arg) n.236G>C n.1041C>G c.1720G>C (p.Gly574Arg) c.1624G>C (p.Gly542Arg) c.1450G>C (p.Gly484Arg) c.1672G>C (p.Gly558Arg) | |
4 | g.186288453G>T | CA358945807 | F11,F11-AS1 | c.1717G>T (p.Gly573Ter) c.317G>T c.1555G>T (p.Gly519Ter) n.236G>T n.1041C>A c.1720G>T (p.Gly574Ter) c.1624G>T (p.Gly542Ter) c.1450G>T (p.Gly484Ter) c.1672G>T (p.Gly558Ter) | |
4 | g.186288454G>A | CA3164105 | F11,F11-AS1 | c.1718G>A (p.Gly573Glu) c.318G>A c.1556G>A (p.Gly519Glu) n.237G>A n.1040C>T c.1721G>A (p.Gly574Glu) c.1625G>A (p.Gly542Glu) c.1451G>A (p.Gly484Glu) c.1673G>A (p.Gly558Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.186288454G>C | CA358945812 | F11,F11-AS1 | c.1718G>C (p.Gly573Ala) c.318G>C c.1556G>C (p.Gly519Ala) n.237G>C n.1040C>G c.1721G>C (p.Gly574Ala) c.1625G>C (p.Gly542Ala) c.1451G>C (p.Gly484Ala) c.1673G>C (p.Gly558Ala) | |
4 | g.186288454G= | CA1519939797 | F11,F11-AS1 | c.1718G= (p.Gly573=) c.318G= c.1556G= (p.Gly519=) n.237G= n.1040C= c.1721G= (p.Gly574=) c.1625G= (p.Gly542=) c.1451G= (p.Gly484=) c.1673G= (p.Gly558=) | |
4 | g.186288454G>T | CA358945810 | F11,F11-AS1 | c.1718G>T (p.Gly573Val) c.318G>T c.1556G>T (p.Gly519Val) n.237G>T n.1040C>A c.1721G>T (p.Gly574Val) c.1625G>T (p.Gly542Val) c.1451G>T (p.Gly484Val) c.1673G>T (p.Gly558Val) | dbSNP |
4 | g.186288455A>C | CA442641335 | F11,F11-AS1 | c.1719A>C (p.Gly573=) c.319A>C c.1557A>C (p.Gly519=) n.238A>C n.1039T>G c.1722A>C (p.Gly574=) c.1626A>C (p.Gly542=) c.1452A>C (p.Gly484=) c.1674A>C (p.Gly558=) | |
4 | g.186288455A>G | CA442641337 | F11,F11-AS1 | c.1719A>G (p.Gly573=) c.319A>G c.1557A>G (p.Gly519=) n.238A>G n.1039T>C c.1722A>G (p.Gly574=) c.1626A>G (p.Gly542=) c.1452A>G (p.Gly484=) c.1674A>G (p.Gly558=) | |
4 | g.186288455A>T | CA442641336 | F11,F11-AS1 | c.1719A>T (p.Gly573=) c.319A>T c.1557A>T (p.Gly519=) n.238A>T n.1039T>A c.1722A>T (p.Gly574=) c.1626A>T (p.Gly542=) c.1452A>T (p.Gly484=) c.1674A>T (p.Gly558=) | |
4 | g.186288456G>A | CA358945821 | F11,F11-AS1 | c.1720G>A (p.Asp574Asn) c.320G>A c.1558G>A (p.Asp520Asn) n.239G>A n.1038C>T c.1723G>A (p.Asp575Asn) c.1627G>A (p.Asp543Asn) c.1453G>A (p.Asp485Asn) c.1675G>A (p.Asp559Asn) | |
4 | g.186288456G>C | CA358945815 | F11,F11-AS1 | c.1720G>C (p.Asp574His) c.320G>C c.1558G>C (p.Asp520His) n.239G>C n.1038C>G c.1723G>C (p.Asp575His) c.1627G>C (p.Asp543His) c.1453G>C (p.Asp485His) c.1675G>C (p.Asp559His) | |
4 | g.186288456G= | CA1519939798 | F11,F11-AS1 | c.1720G= (p.Asp574=) c.320G= c.1558G= (p.Asp520=) n.239G= n.1038C= c.1723G= (p.Asp575=) c.1627G= (p.Asp543=) c.1453G= (p.Asp485=) c.1675G= (p.Asp559=) | |
4 | g.186288456G>T | CA3164106 | F11,F11-AS1 | c.1720G>T (p.Asp574Tyr) c.320G>T c.1558G>T (p.Asp520Tyr) n.239G>T n.1038C>A c.1723G>T (p.Asp575Tyr) c.1627G>T (p.Asp543Tyr) c.1453G>T (p.Asp485Tyr) c.1675G>T (p.Asp559Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288457A>C | CA358945823 | F11,F11-AS1 | c.1721A>C (p.Asp574Ala) c.321A>C c.1559A>C (p.Asp520Ala) n.240A>C n.1037T>G c.1724A>C (p.Asp575Ala) c.1628A>C (p.Asp543Ala) c.1454A>C (p.Asp485Ala) c.1676A>C (p.Asp559Ala) | |
4 | g.186288457A>G | CA358945825 | F11,F11-AS1 | c.1721A>G (p.Asp574Gly) c.321A>G c.1559A>G (p.Asp520Gly) n.240A>G n.1037T>C c.1724A>G (p.Asp575Gly) c.1628A>G (p.Asp543Gly) c.1454A>G (p.Asp485Gly) c.1676A>G (p.Asp559Gly) | |
4 | g.186288457A>T | CA358945827 | F11,F11-AS1 | c.1721A>T (p.Asp574Val) c.321A>T c.1559A>T (p.Asp520Val) n.240A>T n.1037T>A c.1724A>T (p.Asp575Val) c.1628A>T (p.Asp543Val) c.1454A>T (p.Asp485Val) c.1676A>T (p.Asp559Val) | |
4 | g.186288458T>A | CA358945829 | F11,F11-AS1 | c.1722T>A (p.Asp574Glu) c.322T>A c.1560T>A (p.Asp520Glu) n.241T>A n.1036A>T c.1725T>A (p.Asp575Glu) c.1629T>A (p.Asp543Glu) c.1455T>A (p.Asp485Glu) c.1677T>A (p.Asp559Glu) | gnomAD v4 |
4 | g.186288458T>C | CA442641338 | F11,F11-AS1 | c.1722T>C (p.Asp574=) c.322T>C c.1560T>C (p.Asp520=) n.241T>C n.1036A>G c.1725T>C (p.Asp575=) c.1629T>C (p.Asp543=) c.1455T>C (p.Asp485=) c.1677T>C (p.Asp559=) | dbSNP |
4 | g.186288458T>G | CA358945830 | F11,F11-AS1 | c.1722T>G (p.Asp574Glu) c.322T>G c.1560T>G (p.Asp520Glu) n.241T>G n.1036A>C c.1725T>G (p.Asp575Glu) c.1629T>G (p.Asp543Glu) c.1455T>G (p.Asp485Glu) c.1677T>G (p.Asp559Glu) | |
4 | g.186288459T>A | CA358945831 | F11,F11-AS1 | c.1723T>A (p.Ser575Thr) c.323T>A c.1561T>A (p.Ser521Thr) n.242T>A n.1035A>T c.1726T>A (p.Ser576Thr) c.1630T>A (p.Ser544Thr) c.1456T>A (p.Ser486Thr) c.1678T>A (p.Ser560Thr) | |
4 | g.186288459T>C | CA358945835 | F11,F11-AS1 | c.1723T>C (p.Ser575Pro) c.323T>C c.1561T>C (p.Ser521Pro) n.242T>C n.1035A>G c.1726T>C (p.Ser576Pro) c.1630T>C (p.Ser544Pro) c.1456T>C (p.Ser486Pro) c.1678T>C (p.Ser560Pro) | |
4 | g.186288459T>G | CA358945833 | F11,F11-AS1 | c.1723T>G (p.Ser575Ala) c.323T>G c.1561T>G (p.Ser521Ala) n.242T>G n.1035A>C c.1726T>G (p.Ser576Ala) c.1630T>G (p.Ser544Ala) c.1456T>G (p.Ser486Ala) c.1678T>G (p.Ser560Ala) | |
4 | g.186288460C>A | CA358945837 | F11,F11-AS1 | c.1724C>A (p.Ser575Ter) c.324C>A c.1562C>A (p.Ser521Ter) n.243C>A n.1034G>T c.1727C>A (p.Ser576Ter) c.1631C>A (p.Ser544Ter) c.1457C>A (p.Ser486Ter) c.1679C>A (p.Ser560Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288460C= | CA1519939799 | F11,F11-AS1 | c.1724C= (p.Ser575=) c.324C= c.1562C= (p.Ser521=) n.243C= n.1034G= c.1727C= (p.Ser576=) c.1631C= (p.Ser544=) c.1457C= (p.Ser486=) c.1679C= (p.Ser560=) | |
4 | g.186288460C>G | CA358945839 | F11,F11-AS1 | c.1724C>G (p.Ser575Trp) c.324C>G c.1562C>G (p.Ser521Trp) n.243C>G n.1034G>C c.1727C>G (p.Ser576Trp) c.1631C>G (p.Ser544Trp) c.1457C>G (p.Ser486Trp) c.1679C>G (p.Ser560Trp) | |
4 | g.186288460C>T | CA219128 | F11,F11-AS1 | c.1724C>T (p.Ser575Leu) c.324C>T c.1562C>T (p.Ser521Leu) n.243C>T n.1034G>A c.1727C>T (p.Ser576Leu) c.1631C>T (p.Ser544Leu) c.1457C>T (p.Ser486Leu) c.1679C>T (p.Ser560Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.186288461G>A | CA3164107 | F11,F11-AS1 | c.1725G>A (p.Ser575=) c.325G>A c.1563G>A (p.Ser521=) n.244G>A n.1033C>T c.1728G>A (p.Ser576=) c.1632G>A (p.Ser544=) c.1458G>A (p.Ser486=) c.1680G>A (p.Ser560=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288461G>C | CA442641340 | F11,F11-AS1 | c.1725G>C (p.Ser575=) c.325G>C c.1563G>C (p.Ser521=) n.244G>C n.1033C>G c.1728G>C (p.Ser576=) c.1632G>C (p.Ser544=) c.1458G>C (p.Ser486=) c.1680G>C (p.Ser560=) | ClinVar |
4 | g.186288461G= | CA1519939800 | F11,F11-AS1 | c.1725G= (p.Ser575=) c.325G= c.1563G= (p.Ser521=) n.244G= n.1033C= c.1728G= (p.Ser576=) c.1632G= (p.Ser544=) c.1458G= (p.Ser486=) c.1680G= (p.Ser560=) | |
4 | g.186288461G>T | CA442641339 | F11,F11-AS1 | c.1725G>T (p.Ser575=) c.325G>T c.1563G>T (p.Ser521=) n.244G>T n.1033C>A c.1728G>T (p.Ser576=) c.1632G>T (p.Ser544=) c.1458G>T (p.Ser486=) c.1680G>T (p.Ser560=) | COSMIC |
4 | g.186288462G>A | CA358945843 | F11,F11-AS1 | c.1726G>A (p.Gly576Arg) c.326G>A c.1564G>A (p.Gly522Arg) n.245G>A n.1032C>T c.1729G>A (p.Gly577Arg) c.1633G>A (p.Gly545Arg) c.1459G>A (p.Gly487Arg) c.1681G>A (p.Gly561Arg) | |
4 | g.186288462G>C | CA358945846 | F11,F11-AS1 | c.1726G>C (p.Gly576Arg) c.326G>C c.1564G>C (p.Gly522Arg) n.245G>C n.1032C>G c.1729G>C (p.Gly577Arg) c.1633G>C (p.Gly545Arg) c.1459G>C (p.Gly487Arg) c.1681G>C (p.Gly561Arg) | |
4 | g.186288462G>T | CA358945844 | F11,F11-AS1 | c.1726G>T (p.Gly576Ter) c.326G>T c.1564G>T (p.Gly522Ter) n.245G>T n.1032C>A c.1729G>T (p.Gly577Ter) c.1633G>T (p.Gly545Ter) c.1459G>T (p.Gly487Ter) c.1681G>T (p.Gly561Ter) | ClinVar |
4 | g.186288463G>A | CA3164108 | F11,F11-AS1 | c.1727G>A (p.Gly576Glu) c.327G>A c.1565G>A (p.Gly522Glu) n.246G>A n.1031C>T c.1730G>A (p.Gly577Glu) c.1634G>A (p.Gly545Glu) c.1460G>A (p.Gly487Glu) c.1682G>A (p.Gly561Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288463G>C | CA358945850 | F11,F11-AS1 | c.1727G>C (p.Gly576Ala) c.327G>C c.1565G>C (p.Gly522Ala) n.246G>C n.1031C>G c.1730G>C (p.Gly577Ala) c.1634G>C (p.Gly545Ala) c.1460G>C (p.Gly487Ala) c.1682G>C (p.Gly561Ala) | gnomAD v4 |
4 | g.186288463G= | CA1519939801 | F11,F11-AS1 | c.1727G= (p.Gly576=) c.327G= c.1565G= (p.Gly522=) n.246G= n.1031C= c.1730G= (p.Gly577=) c.1634G= (p.Gly545=) c.1460G= (p.Gly487=) c.1682G= (p.Gly561=) | |
4 | g.186288463G>T | CA358945851 | F11,F11-AS1 | c.1727G>T (p.Gly576Val) c.327G>T c.1565G>T (p.Gly522Val) n.246G>T n.1031C>A c.1730G>T (p.Gly577Val) c.1634G>T (p.Gly545Val) c.1460G>T (p.Gly487Val) c.1682G>T (p.Gly561Val) | |
4 | g.186288464A= | CA1519939802 | F11,F11-AS1 | c.1728A= (p.Gly576=) c.328A= c.1566A= (p.Gly522=) n.247A= n.1030T= c.1731A= (p.Gly577=) c.1635A= (p.Gly545=) c.1461A= (p.Gly487=) c.1683A= (p.Gly561=) | |
4 | g.186288464A>C | CA442641341 | F11,F11-AS1 | c.1728A>C (p.Gly576=) c.328A>C c.1566A>C (p.Gly522=) n.247A>C n.1030T>G c.1731A>C (p.Gly577=) c.1635A>C (p.Gly545=) c.1461A>C (p.Gly487=) c.1683A>C (p.Gly561=) | |
4 | g.186288464A>G | CA442641342 | F11,F11-AS1 | c.1728A>G (p.Gly576=) c.328A>G c.1566A>G (p.Gly522=) n.247A>G n.1030T>C c.1731A>G (p.Gly577=) c.1635A>G (p.Gly545=) c.1461A>G (p.Gly487=) c.1683A>G (p.Gly561=) | |
4 | g.186288464A>T | CA3164109 | F11,F11-AS1 | c.1728A>T (p.Gly576=) c.328A>T c.1566A>T (p.Gly522=) n.247A>T n.1030T>A c.1731A>T (p.Gly577=) c.1635A>T (p.Gly545=) c.1461A>T (p.Gly487=) c.1683A>T (p.Gly561=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288465G>A | CA112106166 | F11,F11-AS1 | c.1729G>A (p.Gly577Ser) c.329G>A c.1567G>A (p.Gly523Ser) n.248G>A n.1029C>T c.1732G>A (p.Gly578Ser) c.1636G>A (p.Gly546Ser) c.1462G>A (p.Gly488Ser) c.1684G>A (p.Gly562Ser) | dbSNP |
4 | g.186288465G>C | CA358945854 | F11,F11-AS1 | c.1729G>C (p.Gly577Arg) c.329G>C c.1567G>C (p.Gly523Arg) n.248G>C n.1029C>G c.1732G>C (p.Gly578Arg) c.1636G>C (p.Gly546Arg) c.1462G>C (p.Gly488Arg) c.1684G>C (p.Gly562Arg) | |
4 | g.186288465G= | CA1519939803 | F11,F11-AS1 | c.1729G= (p.Gly577=) c.329G= c.1567G= (p.Gly523=) n.248G= n.1029C= c.1732G= (p.Gly578=) c.1636G= (p.Gly546=) c.1462G= (p.Gly488=) c.1684G= (p.Gly562=) | |
4 | g.186288465G>T | CA358945856 | F11,F11-AS1 | c.1729G>T (p.Gly577Cys) c.329G>T c.1567G>T (p.Gly523Cys) n.248G>T n.1029C>A c.1732G>T (p.Gly578Cys) c.1636G>T (p.Gly546Cys) c.1462G>T (p.Gly488Cys) c.1684G>T (p.Gly562Cys) | |
4 | g.186288466G>A | CA358945857 | F11,F11-AS1 | c.1730G>A (p.Gly577Asp) c.330G>A c.1568G>A (p.Gly523Asp) n.249G>A n.1028C>T c.1733G>A (p.Gly578Asp) c.1637G>A (p.Gly546Asp) c.1463G>A (p.Gly488Asp) c.1685G>A (p.Gly562Asp) | gnomAD v4 |
4 | g.186288466G>C | CA358945859 | F11,F11-AS1 | c.1730G>C (p.Gly577Ala) c.330G>C c.1568G>C (p.Gly523Ala) n.249G>C n.1028C>G c.1733G>C (p.Gly578Ala) c.1637G>C (p.Gly546Ala) c.1463G>C (p.Gly488Ala) c.1685G>C (p.Gly562Ala) | |
4 | g.186288466G>T | CA358945860 | F11,F11-AS1 | c.1730G>T (p.Gly577Val) c.330G>T c.1568G>T (p.Gly523Val) n.249G>T n.1028C>A c.1733G>T (p.Gly578Val) c.1637G>T (p.Gly546Val) c.1463G>T (p.Gly488Val) c.1685G>T (p.Gly562Val) | |
4 | g.186288467C>A | CA442641343 | F11,F11-AS1 | c.1731C>A (p.Gly577=) c.331C>A c.1569C>A (p.Gly523=) n.250C>A n.1027G>T c.1734C>A (p.Gly578=) c.1638C>A (p.Gly546=) c.1464C>A (p.Gly488=) c.1686C>A (p.Gly562=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288467C= | CA1519939804 | F11,F11-AS1 | c.1731C= (p.Gly577=) c.331C= c.1569C= (p.Gly523=) n.250C= n.1027G= c.1734C= (p.Gly578=) c.1638C= (p.Gly546=) c.1464C= (p.Gly488=) c.1686C= (p.Gly562=) | |
4 | g.186288467C>G | CA442641344 | F11,F11-AS1 | c.1731C>G (p.Gly577=) c.331C>G c.1569C>G (p.Gly523=) n.250C>G n.1027G>C c.1734C>G (p.Gly578=) c.1638C>G (p.Gly546=) c.1464C>G (p.Gly488=) c.1686C>G (p.Gly562=) | |
4 | g.186288467C>T | CA3164110 | F11,F11-AS1 | c.1731C>T (p.Gly577=) c.331C>T c.1569C>T (p.Gly523=) n.250C>T n.1027G>A c.1734C>T (p.Gly578=) c.1638C>T (p.Gly546=) c.1464C>T (p.Gly488=) c.1686C>T (p.Gly562=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288468C>A | CA358945865 | F11,F11-AS1 | c.1732C>A (p.Pro578Thr) c.332C>A c.1570C>A (p.Pro524Thr) n.251C>A n.1026G>T c.1735C>A (p.Pro579Thr) c.1639C>A (p.Pro547Thr) c.1465C>A (p.Pro489Thr) c.1687C>A (p.Pro563Thr) | |
4 | g.186288468C>G | CA358945866 | F11,F11-AS1 | c.1732C>G (p.Pro578Ala) c.332C>G c.1570C>G (p.Pro524Ala) n.251C>G n.1026G>C c.1735C>G (p.Pro579Ala) c.1639C>G (p.Pro547Ala) c.1465C>G (p.Pro489Ala) c.1687C>G (p.Pro563Ala) | |
4 | g.186288468C>T | CA358945863 | F11,F11-AS1 | c.1732C>T (p.Pro578Ser) c.332C>T c.1570C>T (p.Pro524Ser) n.251C>T n.1026G>A c.1735C>T (p.Pro579Ser) c.1639C>T (p.Pro547Ser) c.1465C>T (p.Pro489Ser) c.1687C>T (p.Pro563Ser) | |
4 | g.186288469C>A | CA358945867 | F11,F11-AS1 | c.1733C>A (p.Pro578His) c.333C>A c.1571C>A (p.Pro524His) n.252C>A n.1025G>T c.1736C>A (p.Pro579His) c.1640C>A (p.Pro547His) c.1466C>A (p.Pro489His) c.1688C>A (p.Pro563His) | |
4 | g.186288469C>G | CA358945870 | F11,F11-AS1 | c.1733C>G (p.Pro578Arg) c.333C>G c.1571C>G (p.Pro524Arg) n.252C>G n.1025G>C c.1736C>G (p.Pro579Arg) c.1640C>G (p.Pro547Arg) c.1466C>G (p.Pro489Arg) c.1688C>G (p.Pro563Arg) | |
4 | g.186288469C>T | CA358945869 | F11,F11-AS1 | c.1733C>T (p.Pro578Leu) c.333C>T c.1571C>T (p.Pro524Leu) n.252C>T n.1025G>A c.1736C>T (p.Pro579Leu) c.1640C>T (p.Pro547Leu) c.1466C>T (p.Pro489Leu) c.1688C>T (p.Pro563Leu) | |
4 | g.186288470T>A | CA442641345 | F11,F11-AS1 | c.1734T>A (p.Pro578=) c.334T>A c.1572T>A (p.Pro524=) n.253T>A n.1024A>T c.1737T>A (p.Pro579=) c.1641T>A (p.Pro547=) c.1467T>A (p.Pro489=) c.1689T>A (p.Pro563=) | |
4 | g.186288470T>C | CA442641346 | F11,F11-AS1 | c.1734T>C (p.Pro578=) c.334T>C c.1572T>C (p.Pro524=) n.253T>C n.1024A>G c.1737T>C (p.Pro579=) c.1641T>C (p.Pro547=) c.1467T>C (p.Pro489=) c.1689T>C (p.Pro563=) | |
4 | g.186288470T>G | CA442641347 | F11,F11-AS1 | c.1734T>G (p.Pro578=) c.334T>G c.1572T>G (p.Pro524=) n.253T>G n.1024A>C c.1737T>G (p.Pro579=) c.1641T>G (p.Pro547=) c.1467T>G (p.Pro489=) c.1689T>G (p.Pro563=) | |
4 | g.186288471C>A | CA358945872 | F11,F11-AS1 | c.1735C>A (p.Leu579Met) c.335C>A c.1573C>A (p.Leu525Met) n.254C>A n.1023G>T c.1738C>A (p.Leu580Met) c.1642C>A (p.Leu548Met) c.1468C>A (p.Leu490Met) c.1690C>A (p.Leu564Met) | |
4 | g.186288471C>G | CA358945874 | F11,F11-AS1 | c.1735C>G (p.Leu579Val) c.335C>G c.1573C>G (p.Leu525Val) n.254C>G n.1023G>C c.1738C>G (p.Leu580Val) c.1642C>G (p.Leu548Val) c.1468C>G (p.Leu490Val) c.1690C>G (p.Leu564Val) | |
4 | g.186288471C>T | CA442641348 | F11,F11-AS1 | c.1735C>T (p.Leu579=) c.335C>T c.1573C>T (p.Leu525=) n.254C>T n.1023G>A c.1738C>T (p.Leu580=) c.1642C>T (p.Leu548=) c.1468C>T (p.Leu490=) c.1690C>T (p.Leu564=) | ClinVar COSMIC COSMIC |
4 | g.186288472T>A | CA358945876 | F11,F11-AS1 | c.1736T>A (p.Leu579Gln) c.336T>A c.1574T>A (p.Leu525Gln) n.255T>A n.1022A>T c.1739T>A (p.Leu580Gln) c.1643T>A (p.Leu548Gln) c.1469T>A (p.Leu490Gln) c.1691T>A (p.Leu564Gln) | |
4 | g.186288472T>C | CA358945878 | F11,F11-AS1 | c.1736T>C (p.Leu579Pro) c.336T>C c.1574T>C (p.Leu525Pro) n.255T>C n.1022A>G c.1739T>C (p.Leu580Pro) c.1643T>C (p.Leu548Pro) c.1469T>C (p.Leu490Pro) c.1691T>C (p.Leu564Pro) | COSMIC COSMIC |
4 | g.186288472T>G | CA358945879 | F11,F11-AS1 | c.1736T>G (p.Leu579Arg) c.336T>G c.1574T>G (p.Leu525Arg) n.255T>G n.1022A>C c.1739T>G (p.Leu580Arg) c.1643T>G (p.Leu548Arg) c.1469T>G (p.Leu490Arg) c.1691T>G (p.Leu564Arg) | |
4 | g.186288473G>A | CA442641349 | F11,F11-AS1 | c.1737G>A (p.Leu579=) c.337G>A c.1575G>A (p.Leu525=) n.256G>A n.1021C>T c.1740G>A (p.Leu580=) c.1644G>A (p.Leu548=) c.1470G>A (p.Leu490=) c.1692G>A (p.Leu564=) | gnomAD v4 |
4 | g.186288473G>C | CA442641350 | F11,F11-AS1 | c.1737G>C (p.Leu579=) c.337G>C c.1575G>C (p.Leu525=) n.256G>C n.1021C>G c.1740G>C (p.Leu580=) c.1644G>C (p.Leu548=) c.1470G>C (p.Leu490=) c.1692G>C (p.Leu564=) | |
4 | g.186288473G>T | CA442641351 | F11,F11-AS1 | c.1737G>T (p.Leu579=) c.337G>T c.1575G>T (p.Leu525=) n.256G>T n.1021C>A c.1740G>T (p.Leu580=) c.1644G>T (p.Leu548=) c.1470G>T (p.Leu490=) c.1692G>T (p.Leu564=) | |
4 | g.186288474T>A | CA358945881 | F11,F11-AS1 | c.1738T>A (p.Ser580Thr) c.338T>A c.1576T>A (p.Ser526Thr) n.257T>A n.1020A>T c.1741T>A (p.Ser581Thr) c.1645T>A (p.Ser549Thr) c.1471T>A (p.Ser491Thr) c.1693T>A (p.Ser565Thr) | |
4 | g.186288474T>C | CA358945883 | F11,F11-AS1 | c.1738T>C (p.Ser580Pro) c.338T>C c.1576T>C (p.Ser526Pro) n.257T>C n.1020A>G c.1741T>C (p.Ser581Pro) c.1645T>C (p.Ser549Pro) c.1471T>C (p.Ser491Pro) c.1693T>C (p.Ser565Pro) | |
4 | g.186288474T>G | CA358945885 | F11,F11-AS1 | c.1738T>G (p.Ser580Ala) c.338T>G c.1576T>G (p.Ser526Ala) n.257T>G n.1020A>C c.1741T>G (p.Ser581Ala) c.1645T>G (p.Ser549Ala) c.1471T>G (p.Ser491Ala) c.1693T>G (p.Ser565Ala) | |
4 | g.186288475C>A | CA358945887 | F11,F11-AS1 | c.1739C>A (p.Ser580Tyr) c.339C>A c.1577C>A (p.Ser526Tyr) n.258C>A n.1019G>T c.1742C>A (p.Ser581Tyr) c.1646C>A (p.Ser549Tyr) c.1472C>A (p.Ser491Tyr) c.1694C>A (p.Ser565Tyr) | |
4 | g.186288475C= | CA1519939805 | F11,F11-AS1 | c.1739C= (p.Ser580=) c.339C= c.1577C= (p.Ser526=) n.258C= n.1019G= c.1742C= (p.Ser581=) c.1646C= (p.Ser549=) c.1472C= (p.Ser491=) c.1694C= (p.Ser565=) | |
4 | g.186288475C>G | CA358945889 | F11,F11-AS1 | c.1739C>G (p.Ser580Cys) c.339C>G c.1577C>G (p.Ser526Cys) n.258C>G n.1019G>C c.1742C>G (p.Ser581Cys) c.1646C>G (p.Ser549Cys) c.1472C>G (p.Ser491Cys) c.1694C>G (p.Ser565Cys) | |
4 | g.186288475C>T | CA3164111 | F11,F11-AS1 | c.1739C>T (p.Ser580Phe) c.339C>T c.1577C>T (p.Ser526Phe) n.258C>T n.1019G>A c.1742C>T (p.Ser581Phe) c.1646C>T (p.Ser549Phe) c.1472C>T (p.Ser491Phe) c.1694C>T (p.Ser565Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288476C>A | CA442641354 | F11,F11-AS1 | c.1740C>A (p.Ser580=) c.340C>A c.1578C>A (p.Ser526=) n.259C>A n.1018G>T c.1743C>A (p.Ser581=) c.1647C>A (p.Ser549=) c.1473C>A (p.Ser491=) c.1695C>A (p.Ser565=) | |
4 | g.186288476C= | CA1519939806 | F11,F11-AS1 | c.1740C= (p.Ser580=) c.340C= c.1578C= (p.Ser526=) n.259C= n.1018G= c.1743C= (p.Ser581=) c.1647C= (p.Ser549=) c.1473C= (p.Ser491=) c.1695C= (p.Ser565=) | |
4 | g.186288476C>G | CA442641352 | F11,F11-AS1 | c.1740C>G (p.Ser580=) c.340C>G c.1578C>G (p.Ser526=) n.259C>G n.1018G>C c.1743C>G (p.Ser581=) c.1647C>G (p.Ser549=) c.1473C>G (p.Ser491=) c.1695C>G (p.Ser565=) | |
4 | g.186288476C>T | CA442641353 | F11,F11-AS1 | c.1740C>T (p.Ser580=) c.340C>T c.1578C>T (p.Ser526=) n.259C>T n.1018G>A c.1743C>T (p.Ser581=) c.1647C>T (p.Ser549=) c.1473C>T (p.Ser491=) c.1695C>T (p.Ser565=) | dbSNP |
4 | g.186288477T>A | CA358945895 | F11,F11-AS1 | c.1741T>A (p.Cys581Ser) c.341T>A c.1579T>A (p.Cys527Ser) n.260T>A n.1017A>T c.1744T>A (p.Cys582Ser) c.1648T>A (p.Cys550Ser) c.1474T>A (p.Cys492Ser) c.1696T>A (p.Cys566Ser) | |
4 | g.186288477T>C | CA358945891 | F11,F11-AS1 | c.1741T>C (p.Cys581Arg) c.341T>C c.1579T>C (p.Cys527Arg) n.260T>C n.1017A>G c.1744T>C (p.Cys582Arg) c.1648T>C (p.Cys550Arg) c.1474T>C (p.Cys492Arg) c.1696T>C (p.Cys566Arg) | ClinVar dbSNP |
4 | g.186288477T>G | CA358945893 | F11,F11-AS1 | c.1741T>G (p.Cys581Gly) c.341T>G c.1579T>G (p.Cys527Gly) n.260T>G n.1017A>C c.1744T>G (p.Cys582Gly) c.1648T>G (p.Cys550Gly) c.1474T>G (p.Cys492Gly) c.1696T>G (p.Cys566Gly) | |
4 | g.186288477T= | CA1519939807 | F11,F11-AS1 | c.1741T= (p.Cys581=) c.341T= c.1579T= (p.Cys527=) n.260T= n.1017A= c.1744T= (p.Cys582=) c.1648T= (p.Cys550=) c.1474T= (p.Cys492=) c.1696T= (p.Cys566=) | |
4 | g.186288478G>A | CA358945897 | F11,F11-AS1 | c.1742G>A (p.Cys581Tyr) c.342G>A c.1580G>A (p.Cys527Tyr) n.261G>A n.1016C>T c.1745G>A (p.Cys582Tyr) c.1649G>A (p.Cys550Tyr) c.1475G>A (p.Cys492Tyr) c.1697G>A (p.Cys566Tyr) | dbSNP |
4 | g.186288478G>C | CA358945899 | F11,F11-AS1 | c.1742G>C (p.Cys581Ser) c.342G>C c.1580G>C (p.Cys527Ser) n.261G>C n.1016C>G c.1745G>C (p.Cys582Ser) c.1649G>C (p.Cys550Ser) c.1475G>C (p.Cys492Ser) c.1697G>C (p.Cys566Ser) | |
4 | g.186288478G= | CA1519939808 | F11,F11-AS1 | c.1742G= (p.Cys581=) c.342G= c.1580G= (p.Cys527=) n.261G= n.1016C= c.1745G= (p.Cys582=) c.1649G= (p.Cys550=) c.1475G= (p.Cys492=) c.1697G= (p.Cys566=) | |
4 | g.186288478G>T | CA358945901 | F11,F11-AS1 | c.1742G>T (p.Cys581Phe) c.342G>T c.1580G>T (p.Cys527Phe) n.261G>T n.1016C>A c.1745G>T (p.Cys582Phe) c.1649G>T (p.Cys550Phe) c.1475G>T (p.Cys492Phe) c.1697G>T (p.Cys566Phe) | |
4 | g.186288479C>A | CA3164112 | F11,F11-AS1 | c.1743C>A (p.Cys581Ter) c.343C>A c.1581C>A (p.Cys527Ter) n.262C>A n.1015G>T c.1746C>A (p.Cys582Ter) c.1650C>A (p.Cys550Ter) c.1476C>A (p.Cys492Ter) c.1698C>A (p.Cys566Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288479C= | CA1519939809 | F11,F11-AS1 | c.1743C= (p.Cys581=) c.343C= c.1581C= (p.Cys527=) n.262C= n.1015G= c.1746C= (p.Cys582=) c.1650C= (p.Cys550=) c.1476C= (p.Cys492=) c.1698C= (p.Cys566=) | |
4 | g.186288479C>G | CA358945908 | F11,F11-AS1 | c.1743C>G (p.Cys581Trp) c.343C>G c.1581C>G (p.Cys527Trp) n.262C>G n.1015G>C c.1746C>G (p.Cys582Trp) c.1650C>G (p.Cys550Trp) c.1476C>G (p.Cys492Trp) c.1698C>G (p.Cys566Trp) | |
4 | g.186288479C>T | CA442641355 | F11,F11-AS1 | c.1743C>T (p.Cys581=) c.343C>T c.1581C>T (p.Cys527=) n.262C>T n.1015G>A c.1746C>T (p.Cys582=) c.1650C>T (p.Cys550=) c.1476C>T (p.Cys492=) c.1698C>T (p.Cys566=) | |
4 | g.186288480A>C | CA358945910 | F11,F11-AS1 | c.1744A>C (p.Lys582Gln) c.344A>C c.1582A>C (p.Lys528Gln) n.263A>C n.1014T>G c.1747A>C (p.Lys583Gln) c.1651A>C (p.Lys551Gln) c.1477A>C (p.Lys493Gln) c.1699A>C (p.Lys567Gln) | |
4 | g.186288480A>G | CA358945911 | F11,F11-AS1 | c.1744A>G (p.Lys582Glu) c.344A>G c.1582A>G (p.Lys528Glu) n.263A>G n.1014T>C c.1747A>G (p.Lys583Glu) c.1651A>G (p.Lys551Glu) c.1477A>G (p.Lys493Glu) c.1699A>G (p.Lys567Glu) | |
4 | g.186288480A>T | CA358945913 | F11,F11-AS1 | c.1744A>T (p.Lys582Ter) c.344A>T c.1582A>T (p.Lys528Ter) n.263A>T n.1014T>A c.1747A>T (p.Lys583Ter) c.1651A>T (p.Lys551Ter) c.1477A>T (p.Lys493Ter) c.1699A>T (p.Lys567Ter) | |
4 | g.186288482del | CA2573138194 | F11,F11-AS1 | c.1746del (p.Lys582AsnfsTer9) c.346del c.1584del (p.Lys528AsnfsTer9) n.265del n.1014del c.1749del (p.Lys583AsnfsTer9) c.1653del (p.Lys551AsnfsTer9) c.1479del (p.Lys493AsnfsTer9) c.1701del (p.Lys567AsnfsTer9) | ClinVar dbSNP |
4 | g.186288481A>C | CA358945915 | F11,F11-AS1 | c.1745A>C (p.Lys582Thr) c.345A>C c.1583A>C (p.Lys528Thr) n.264A>C n.1013T>G c.1748A>C (p.Lys583Thr) c.1652A>C (p.Lys551Thr) c.1478A>C (p.Lys493Thr) c.1700A>C (p.Lys567Thr) | |
4 | g.186288481A>G | CA358945917 | F11,F11-AS1 | c.1745A>G (p.Lys582Arg) c.345A>G c.1583A>G (p.Lys528Arg) n.264A>G n.1013T>C c.1748A>G (p.Lys583Arg) c.1652A>G (p.Lys551Arg) c.1478A>G (p.Lys493Arg) c.1700A>G (p.Lys567Arg) | gnomAD v4 |
4 | g.186288481A>T | CA358945918 | F11,F11-AS1 | c.1745A>T (p.Lys582Ile) c.345A>T c.1583A>T (p.Lys528Ile) n.264A>T n.1013T>A c.1748A>T (p.Lys583Ile) c.1652A>T (p.Lys551Ile) c.1478A>T (p.Lys493Ile) c.1700A>T (p.Lys567Ile) | |
4 | g.186288482A= | CA1519939810 | F11,F11-AS1 | c.1746A= (p.Lys582=) c.346A= c.1584A= (p.Lys528=) n.265A= n.1012T= c.1749A= (p.Lys583=) c.1653A= (p.Lys551=) c.1479A= (p.Lys493=) c.1701A= (p.Lys567=) | |
4 | g.186288482A>C | CA112106175 | F11,F11-AS1 | c.1746A>C (p.Lys582Asn) c.346A>C c.1584A>C (p.Lys528Asn) n.265A>C n.1012T>G c.1749A>C (p.Lys583Asn) c.1653A>C (p.Lys551Asn) c.1479A>C (p.Lys493Asn) c.1701A>C (p.Lys567Asn) | dbSNP |
4 | g.186288482A>G | CA442641356 | F11,F11-AS1 | c.1746A>G (p.Lys582=) c.346A>G c.1584A>G (p.Lys528=) n.265A>G n.1012T>C c.1749A>G (p.Lys583=) c.1653A>G (p.Lys551=) c.1479A>G (p.Lys493=) c.1701A>G (p.Lys567=) | |
4 | g.186288482A>T | CA358945921 | F11,F11-AS1 | c.1746A>T (p.Lys582Asn) c.346A>T c.1584A>T (p.Lys528Asn) n.265A>T n.1012T>A c.1749A>T (p.Lys583Asn) c.1653A>T (p.Lys551Asn) c.1479A>T (p.Lys493Asn) c.1701A>T (p.Lys567Asn) | gnomAD v4 |
4 | g.186288483C>A | CA358945923 | F11,F11-AS1 | c.1747C>A (p.His583Asn) c.347C>A c.1585C>A (p.His529Asn) n.266C>A n.1011G>T c.1750C>A (p.His584Asn) c.1654C>A (p.His552Asn) c.1480C>A (p.His494Asn) c.1702C>A (p.His568Asn) | |
4 | g.186288483C>G | CA358945925 | F11,F11-AS1 | c.1747C>G (p.His583Asp) c.347C>G c.1585C>G (p.His529Asp) n.266C>G n.1011G>C c.1750C>G (p.His584Asp) c.1654C>G (p.His552Asp) c.1480C>G (p.His494Asp) c.1702C>G (p.His568Asp) | |
4 | g.186288483C>T | CA358945926 | F11,F11-AS1 | c.1747C>T (p.His583Tyr) c.347C>T c.1585C>T (p.His529Tyr) n.266C>T n.1011G>A c.1750C>T (p.His584Tyr) c.1654C>T (p.His552Tyr) c.1480C>T (p.His494Tyr) c.1702C>T (p.His568Tyr) | gnomAD v4 |
4 | g.186288483dup | CA3164113 | F11,F11-AS1 | c.1747dup (p.His583ProfsTer3) c.347dup c.1585dup (p.His529ProfsTer3) n.266dup n.1011dup c.1750dup (p.His584ProfsTer3) c.1654dup (p.His552ProfsTer3) c.1480dup (p.His494ProfsTer3) c.1702dup (p.His568ProfsTer3) | dbSNP ExAC gnomAD v2 |
4 | g.186288484A= | CA1519939811 | F11,F11-AS1 | c.1748A= (p.His583=) c.348A= c.1586A= (p.His529=) n.267A= n.1010T= c.1751A= (p.His584=) c.1655A= (p.His552=) c.1481A= (p.His494=) c.1703A= (p.His568=) | |
4 | g.186288484A>C | CA358945928 | F11,F11-AS1 | c.1748A>C (p.His583Pro) c.348A>C c.1586A>C (p.His529Pro) n.267A>C n.1010T>G c.1751A>C (p.His584Pro) c.1655A>C (p.His552Pro) c.1481A>C (p.His494Pro) c.1703A>C (p.His568Pro) | |
4 | g.186288484A>G | CA358945930 | F11,F11-AS1 | c.1748A>G (p.His583Arg) c.348A>G c.1586A>G (p.His529Arg) n.267A>G n.1010T>C c.1751A>G (p.His584Arg) c.1655A>G (p.His552Arg) c.1481A>G (p.His494Arg) c.1703A>G (p.His568Arg) | |
4 | g.186288484A>T | CA3164114 | F11,F11-AS1 | c.1748A>T (p.His583Leu) c.348A>T c.1586A>T (p.His529Leu) n.267A>T n.1010T>A c.1751A>T (p.His584Leu) c.1655A>T (p.His552Leu) c.1481A>T (p.His494Leu) c.1703A>T (p.His568Leu) | dbSNP ExAC gnomAD v2 COSMIC COSMIC |
4 | g.186288485C>A | CA358945933 | F11,F11-AS1 | c.1749C>A (p.His583Gln) c.349C>A c.1587C>A (p.His529Gln) n.268C>A n.1009G>T c.1752C>A (p.His584Gln) c.1656C>A (p.His552Gln) c.1482C>A (p.His494Gln) c.1704C>A (p.His568Gln) | |
4 | g.186288485C= | CA1519939812 | F11,F11-AS1 | c.1749C= (p.His583=) c.349C= c.1587C= (p.His529=) n.268C= n.1009G= c.1752C= (p.His584=) c.1656C= (p.His552=) c.1482C= (p.His494=) c.1704C= (p.His568=) | |
4 | g.186288485C>G | CA358945935 | F11,F11-AS1 | c.1749C>G (p.His583Gln) c.349C>G c.1587C>G (p.His529Gln) n.268C>G n.1009G>C c.1752C>G (p.His584Gln) c.1656C>G (p.His552Gln) c.1482C>G (p.His494Gln) c.1704C>G (p.His568Gln) | |
4 | g.186288485C>T | CA442641358 | F11,F11-AS1 | c.1749C>T (p.His583=) c.349C>T c.1587C>T (p.His529=) n.268C>T n.1009G>A c.1752C>T (p.His584=) c.1656C>T (p.His552=) c.1482C>T (p.His494=) c.1704C>T (p.His568=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288486A= | CA1519939813 | F11,F11-AS1 | c.1750A= (p.Asn584=) c.350A= c.1588A= (p.Asn530=) n.269A= n.1008T= c.1753A= (p.Asn585=) c.1657A= (p.Asn553=) c.1483A= (p.Asn495=) c.1705A= (p.Asn569=) | |
4 | g.186288486A>C | CA358945937 | F11,F11-AS1 | c.1750A>C (p.Asn584His) c.350A>C c.1588A>C (p.Asn530His) n.269A>C n.1008T>G c.1753A>C (p.Asn585His) c.1657A>C (p.Asn553His) c.1483A>C (p.Asn495His) c.1705A>C (p.Asn569His) | |
4 | g.186288486A>G | CA3164115 | F11,F11-AS1 | c.1750A>G (p.Asn584Asp) c.350A>G c.1588A>G (p.Asn530Asp) n.269A>G n.1008T>C c.1753A>G (p.Asn585Asp) c.1657A>G (p.Asn553Asp) c.1483A>G (p.Asn495Asp) c.1705A>G (p.Asn569Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288486A>T | CA358945940 | F11,F11-AS1 | c.1750A>T (p.Asn584Tyr) c.350A>T c.1588A>T (p.Asn530Tyr) n.269A>T n.1008T>A c.1753A>T (p.Asn585Tyr) c.1657A>T (p.Asn553Tyr) c.1483A>T (p.Asn495Tyr) c.1705A>T (p.Asn569Tyr) | |
4 | g.186288486_186288487insTTG | CA3164116 | F11,F11-AS1 | c.1750_1751insTTG (p.Asn584delinsIleAsp) c.350_351insTTG c.1588_1589insTTG (p.Asn530delinsIleAsp) n.269_270insTTG n.1007_1008insCAA c.1753_1754insTTG (p.Asn585delinsIleAsp) c.1657_1658insTTG (p.Asn553delinsIleAsp) c.1483_1484insTTG (p.Asn495delinsIleAsp) c.1705_1706insTTG (p.Asn569delinsIleAsp) | dbSNP ExAC gnomAD v2 |
4 | g.186288487A= | CA1519939814 | F11,F11-AS1 | c.1751A= (p.Asn584=) c.351A= c.1589A= (p.Asn530=) n.270A= n.1007T= c.1754A= (p.Asn585=) c.1658A= (p.Asn553=) c.1484A= (p.Asn495=) c.1706A= (p.Asn569=) | |
4 | g.186288487A>C | CA358945946 | F11,F11-AS1 | c.1751A>C (p.Asn584Thr) c.351A>C c.1589A>C (p.Asn530Thr) n.270A>C n.1007T>G c.1754A>C (p.Asn585Thr) c.1658A>C (p.Asn553Thr) c.1484A>C (p.Asn495Thr) c.1706A>C (p.Asn569Thr) | |
4 | g.186288487A>G | CA3164117 | F11,F11-AS1 | c.1751A>G (p.Asn584Ser) c.351A>G c.1589A>G (p.Asn530Ser) n.270A>G n.1007T>C c.1754A>G (p.Asn585Ser) c.1658A>G (p.Asn553Ser) c.1484A>G (p.Asn495Ser) c.1706A>G (p.Asn569Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288487A>T | CA3164118 | F11,F11-AS1 | c.1751A>T (p.Asn584Ile) c.351A>T c.1589A>T (p.Asn530Ile) n.270A>T n.1007T>A c.1754A>T (p.Asn585Ile) c.1658A>T (p.Asn553Ile) c.1484A>T (p.Asn495Ile) c.1706A>T (p.Asn569Ile) | ClinVar dbSNP ExAC gnomAD v2 |
4 | g.186288488T>A | CA358945949 | F11,F11-AS1 | c.1752T>A (p.Asn584Lys) c.352T>A c.1590T>A (p.Asn530Lys) n.271T>A n.1006A>T c.1755T>A (p.Asn585Lys) c.1659T>A (p.Asn553Lys) c.1485T>A (p.Asn495Lys) c.1707T>A (p.Asn569Lys) | |
4 | g.186288488T>C | CA112106189 | F11,F11-AS1 | c.1752T>C (p.Asn584=) c.352T>C c.1590T>C (p.Asn530=) n.271T>C n.1006A>G c.1755T>C (p.Asn585=) c.1659T>C (p.Asn553=) c.1485T>C (p.Asn495=) c.1707T>C (p.Asn569=) | dbSNP gnomAD v4 |
4 | g.186288488T>G | CA358945951 | F11,F11-AS1 | c.1752T>G (p.Asn584Lys) c.352T>G c.1590T>G (p.Asn530Lys) n.271T>G n.1006A>C c.1755T>G (p.Asn585Lys) c.1659T>G (p.Asn553Lys) c.1485T>G (p.Asn495Lys) c.1707T>G (p.Asn569Lys) | |
4 | g.186288488T= | CA1519939815 | F11,F11-AS1 | c.1752T= (p.Asn584=) c.352T= c.1590T= (p.Asn530=) n.271T= n.1006A= c.1755T= (p.Asn585=) c.1659T= (p.Asn553=) c.1485T= (p.Asn495=) c.1707T= (p.Asn569=) | |
4 | g.186288489G>A | CA358945953 | F11,F11-AS1 | c.1753G>A (p.Glu585Lys) c.353G>A c.1591G>A (p.Glu531Lys) n.272G>A n.1005C>T c.1756G>A (p.Glu586Lys) c.1660G>A (p.Glu554Lys) c.1486G>A (p.Glu496Lys) c.1708G>A (p.Glu570Lys) | gnomAD v4 |
4 | g.186288489G>C | CA358945955 | F11,F11-AS1 | c.1753G>C (p.Glu585Gln) c.353G>C c.1591G>C (p.Glu531Gln) n.272G>C n.1005C>G c.1756G>C (p.Glu586Gln) c.1660G>C (p.Glu554Gln) c.1486G>C (p.Glu496Gln) c.1708G>C (p.Glu570Gln) | |
4 | g.186288489G>T | CA358945956 | F11,F11-AS1 | c.1753G>T (p.Glu585Ter) c.353G>T c.1591G>T (p.Glu531Ter) n.272G>T n.1005C>A c.1756G>T (p.Glu586Ter) c.1660G>T (p.Glu554Ter) c.1486G>T (p.Glu496Ter) c.1708G>T (p.Glu570Ter) | |
4 | g.186288490A= | CA1519939816 | F11,F11-AS1 | c.1754A= (p.Glu585=) c.354A= c.1592A= (p.Glu531=) n.273A= n.1004T= c.1757A= (p.Glu586=) c.1661A= (p.Glu554=) c.1487A= (p.Glu496=) c.1709A= (p.Glu570=) | |
4 | g.186288490A>C | CA358945959 | F11,F11-AS1 | c.1754A>C (p.Glu585Ala) c.354A>C c.1592A>C (p.Glu531Ala) n.273A>C n.1004T>G c.1757A>C (p.Glu586Ala) c.1661A>C (p.Glu554Ala) c.1487A>C (p.Glu496Ala) c.1709A>C (p.Glu570Ala) | |
4 | g.186288490A>G | CA112106194 | F11,F11-AS1 | c.1754A>G (p.Glu585Gly) c.354A>G c.1592A>G (p.Glu531Gly) n.273A>G n.1004T>C c.1757A>G (p.Glu586Gly) c.1661A>G (p.Glu554Gly) c.1487A>G (p.Glu496Gly) c.1709A>G (p.Glu570Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288490A>T | CA358945961 | F11,F11-AS1 | c.1754A>T (p.Glu585Val) c.354A>T c.1592A>T (p.Glu531Val) n.273A>T n.1004T>A c.1757A>T (p.Glu586Val) c.1661A>T (p.Glu554Val) c.1487A>T (p.Glu496Val) c.1709A>T (p.Glu570Val) | |
4 | g.186288491G>A | CA442641359 | F11,F11-AS1 | c.1755G>A (p.Glu585=) c.355G>A c.1593G>A (p.Glu531=) n.274G>A n.1003C>T c.1758G>A (p.Glu586=) c.1662G>A (p.Glu554=) c.1488G>A (p.Glu496=) c.1710G>A (p.Glu570=) | dbSNP gnomAD v4 |
4 | g.186288491G>C | CA358945964 | F11,F11-AS1 | c.1755G>C (p.Glu585Asp) c.355G>C c.1593G>C (p.Glu531Asp) n.274G>C n.1003C>G c.1758G>C (p.Glu586Asp) c.1662G>C (p.Glu554Asp) c.1488G>C (p.Glu496Asp) c.1710G>C (p.Glu570Asp) | |
4 | g.186288491G= | CA1519939817 | F11,F11-AS1 | c.1755G= (p.Glu585=) c.355G= c.1593G= (p.Glu531=) n.274G= n.1003C= c.1758G= (p.Glu586=) c.1662G= (p.Glu554=) c.1488G= (p.Glu496=) c.1710G= (p.Glu570=) | |
4 | g.186288491G>T | CA358945966 | F11,F11-AS1 | c.1755G>T (p.Glu585Asp) c.355G>T c.1593G>T (p.Glu531Asp) n.274G>T n.1003C>A c.1758G>T (p.Glu586Asp) c.1662G>T (p.Glu554Asp) c.1488G>T (p.Glu496Asp) c.1710G>T (p.Glu570Asp) | |
4 | g.186288492G>A | CA358945969 | F11,F11-AS1 | c.1756G>A (p.Val586Ile) c.356G>A c.1594G>A (p.Val532Ile) n.275G>A n.1002C>T c.1759G>A (p.Val587Ile) c.1663G>A (p.Val555Ile) c.1489G>A (p.Val497Ile) c.1711G>A (p.Val571Ile) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288492G>C | CA358945970 | F11,F11-AS1 | c.1756G>C (p.Val586Leu) c.356G>C c.1594G>C (p.Val532Leu) n.275G>C n.1002C>G c.1759G>C (p.Val587Leu) c.1663G>C (p.Val555Leu) c.1489G>C (p.Val497Leu) c.1711G>C (p.Val571Leu) | |
4 | g.186288492G= | CA1519939818 | F11,F11-AS1 | c.1756G= (p.Val586=) c.356G= c.1594G= (p.Val532=) n.275G= n.1002C= c.1759G= (p.Val587=) c.1663G= (p.Val555=) c.1489G= (p.Val497=) c.1711G= (p.Val571=) | |
4 | g.186288492G>T | CA358945972 | F11,F11-AS1 | c.1756G>T (p.Val586Phe) c.356G>T c.1594G>T (p.Val532Phe) n.275G>T n.1002C>A c.1759G>T (p.Val587Phe) c.1663G>T (p.Val555Phe) c.1489G>T (p.Val497Phe) c.1711G>T (p.Val571Phe) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288493T>A | CA358945976 | F11,F11-AS1 | c.1757T>A (p.Val586Asp) c.357T>A c.1595T>A (p.Val532Asp) n.276T>A n.1001A>T c.1760T>A (p.Val587Asp) c.1664T>A (p.Val555Asp) c.1490T>A (p.Val497Asp) c.1712T>A (p.Val571Asp) | |
4 | g.186288493T>C | CA358945977 | F11,F11-AS1 | c.1757T>C (p.Val586Ala) c.357T>C c.1595T>C (p.Val532Ala) n.276T>C n.1001A>G c.1760T>C (p.Val587Ala) c.1664T>C (p.Val555Ala) c.1490T>C (p.Val497Ala) c.1712T>C (p.Val571Ala) | |
4 | g.186288493T>G | CA358945975 | F11,F11-AS1 | c.1757T>G (p.Val586Gly) c.357T>G c.1595T>G (p.Val532Gly) n.276T>G n.1001A>C c.1760T>G (p.Val587Gly) c.1664T>G (p.Val555Gly) c.1490T>G (p.Val497Gly) c.1712T>G (p.Val571Gly) | |
4 | g.186288494C>A | CA442641360 | F11,F11-AS1 | c.1758C>A (p.Val586=) c.358C>A c.1596C>A (p.Val532=) n.277C>A n.1000G>T c.1761C>A (p.Val587=) c.1665C>A (p.Val555=) c.1491C>A (p.Val497=) c.1713C>A (p.Val571=) | |
4 | g.186288494C>G | CA442641361 | F11,F11-AS1 | c.1758C>G (p.Val586=) c.358C>G c.1596C>G (p.Val532=) n.277C>G n.1000G>C c.1761C>G (p.Val587=) c.1665C>G (p.Val555=) c.1491C>G (p.Val497=) c.1713C>G (p.Val571=) | |
4 | g.186288494C>T | CA442641362 | F11,F11-AS1 | c.1758C>T (p.Val586=) c.358C>T c.1596C>T (p.Val532=) n.277C>T n.1000G>A c.1761C>T (p.Val587=) c.1665C>T (p.Val555=) c.1491C>T (p.Val497=) c.1713C>T (p.Val571=) | COSMIC COSMIC |
4 | g.186288495T>A | CA358945981 | F11,F11-AS1 | c.1759T>A (p.Trp587Arg) c.359T>A c.1597T>A (p.Trp533Arg) n.278T>A n.999A>T c.1762T>A (p.Trp588Arg) c.1666T>A (p.Trp556Arg) c.1492T>A (p.Trp498Arg) c.1714T>A (p.Trp572Arg) | |
4 | g.186288495T>C | CA358945979 | F11,F11-AS1 | c.1759T>C (p.Trp587Arg) c.359T>C c.1597T>C (p.Trp533Arg) n.278T>C n.999A>G c.1762T>C (p.Trp588Arg) c.1666T>C (p.Trp556Arg) c.1492T>C (p.Trp498Arg) c.1714T>C (p.Trp572Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288495T>G | CA358945982 | F11,F11-AS1 | c.1759T>G (p.Trp587Gly) c.359T>G c.1597T>G (p.Trp533Gly) n.278T>G n.999A>C c.1762T>G (p.Trp588Gly) c.1666T>G (p.Trp556Gly) c.1492T>G (p.Trp498Gly) c.1714T>G (p.Trp572Gly) | |
4 | g.186288495T= | CA1519939819 | F11,F11-AS1 | c.1759T= (p.Trp587=) c.359T= c.1597T= (p.Trp533=) n.278T= n.999A= c.1762T= (p.Trp588=) c.1666T= (p.Trp556=) c.1492T= (p.Trp498=) c.1714T= (p.Trp572=) | |
4 | g.186288496G>A | CA358945985 | F11,F11-AS1 | c.1760G>A (p.Trp587Ter) c.360G>A c.1598G>A (p.Trp533Ter) n.279G>A n.998C>T c.1763G>A (p.Trp588Ter) c.1667G>A (p.Trp556Ter) c.1493G>A (p.Trp498Ter) c.1715G>A (p.Trp572Ter) | |
4 | g.186288496G>C | CA121769 | F11,F11-AS1 | c.1760G>C (p.Trp587Ser) c.360G>C c.1598G>C (p.Trp533Ser) n.279G>C n.998C>G c.1763G>C (p.Trp588Ser) c.1667G>C (p.Trp556Ser) c.1493G>C (p.Trp498Ser) c.1715G>C (p.Trp572Ser) | ClinVar dbSNP |
4 | g.186288496G= | CA1519939820 | F11,F11-AS1 | c.1760G= (p.Trp587=) c.360G= c.1598G= (p.Trp533=) n.279G= n.998C= c.1763G= (p.Trp588=) c.1667G= (p.Trp556=) c.1493G= (p.Trp498=) c.1715G= (p.Trp572=) | |
4 | g.186288496G>T | CA358945986 | F11,F11-AS1 | c.1760G>T (p.Trp587Leu) c.360G>T c.1598G>T (p.Trp533Leu) n.279G>T n.998C>A c.1763G>T (p.Trp588Leu) c.1667G>T (p.Trp556Leu) c.1493G>T (p.Trp498Leu) c.1715G>T (p.Trp572Leu) | |
4 | g.186288497G>A | CA358945989 | F11,F11-AS1 | c.1761G>A (p.Trp587Ter) c.361G>A c.1599G>A (p.Trp533Ter) n.280G>A n.997C>T c.1764G>A (p.Trp588Ter) c.1668G>A (p.Trp556Ter) c.1494G>A (p.Trp498Ter) c.1716G>A (p.Trp572Ter) | |
4 | g.186288497G>C | CA358945990 | F11,F11-AS1 | c.1761G>C (p.Trp587Cys) c.361G>C c.1599G>C (p.Trp533Cys) n.280G>C n.997C>G c.1764G>C (p.Trp588Cys) c.1668G>C (p.Trp556Cys) c.1494G>C (p.Trp498Cys) c.1716G>C (p.Trp572Cys) | |
4 | g.186288497G>T | CA358945992 | F11,F11-AS1 | c.1761G>T (p.Trp587Cys) c.361G>T c.1599G>T (p.Trp533Cys) n.280G>T n.997C>A c.1764G>T (p.Trp588Cys) c.1668G>T (p.Trp556Cys) c.1494G>T (p.Trp498Cys) c.1716G>T (p.Trp572Cys) | |
4 | g.186288498C>A | CA358945994 | F11,F11-AS1 | c.1762C>A (p.His588Asn) c.362C>A c.1600C>A (p.His534Asn) n.281C>A n.996G>T c.1765C>A (p.His589Asn) c.1669C>A (p.His557Asn) c.1495C>A (p.His499Asn) c.1717C>A (p.His573Asn) | |
4 | g.186288498C>G | CA358945995 | F11,F11-AS1 | c.1762C>G (p.His588Asp) c.362C>G c.1600C>G (p.His534Asp) n.281C>G n.996G>C c.1765C>G (p.His589Asp) c.1669C>G (p.His557Asp) c.1495C>G (p.His499Asp) c.1717C>G (p.His573Asp) | |
4 | g.186288498C>T | CA358945998 | F11,F11-AS1 | c.1762C>T (p.His588Tyr) c.362C>T c.1600C>T (p.His534Tyr) n.281C>T n.996G>A c.1765C>T (p.His589Tyr) c.1669C>T (p.His557Tyr) c.1495C>T (p.His499Tyr) c.1717C>T (p.His573Tyr) | |
4 | g.186288499A>C | CA358946000 | F11,F11-AS1 | c.1763A>C (p.His588Pro) c.363A>C c.1601A>C (p.His534Pro) n.282A>C n.995T>G c.1766A>C (p.His589Pro) c.1670A>C (p.His557Pro) c.1496A>C (p.His499Pro) c.1718A>C (p.His573Pro) | |
4 | g.186288499A>G | CA358946002 | F11,F11-AS1 | c.1763A>G (p.His588Arg) c.363A>G c.1601A>G (p.His534Arg) n.282A>G n.995T>C c.1766A>G (p.His589Arg) c.1670A>G (p.His557Arg) c.1496A>G (p.His499Arg) c.1718A>G (p.His573Arg) | |
4 | g.186288499A>T | CA358946004 | F11,F11-AS1 | c.1763A>T (p.His588Leu) c.363A>T c.1601A>T (p.His534Leu) n.282A>T n.995T>A c.1766A>T (p.His589Leu) c.1670A>T (p.His557Leu) c.1496A>T (p.His499Leu) c.1718A>T (p.His573Leu) | |
4 | g.186288500T>A | CA358946005 | F11,F11-AS1 | c.1764T>A (p.His588Gln) c.364T>A c.1602T>A (p.His534Gln) n.283T>A n.994A>T c.1767T>A (p.His589Gln) c.1671T>A (p.His557Gln) c.1497T>A (p.His499Gln) c.1719T>A (p.His573Gln) | dbSNP |
4 | g.186288500T>C | CA442641363 | F11,F11-AS1 | c.1764T>C (p.His588=) c.364T>C c.1602T>C (p.His534=) n.283T>C n.994A>G c.1767T>C (p.His589=) c.1671T>C (p.His557=) c.1497T>C (p.His499=) c.1719T>C (p.His573=) | |
4 | g.186288500T>G | CA358946006 | F11,F11-AS1 | c.1764T>G (p.His588Gln) c.364T>G c.1602T>G (p.His534Gln) n.283T>G n.994A>C c.1767T>G (p.His589Gln) c.1671T>G (p.His557Gln) c.1497T>G (p.His499Gln) c.1719T>G (p.His573Gln) | |
4 | g.186288500T= | CA1519939821 | F11,F11-AS1 | c.1764T= (p.His588=) c.364T= c.1602T= (p.His534=) n.283T= n.994A= c.1767T= (p.His589=) c.1671T= (p.His557=) c.1497T= (p.His499=) c.1719T= (p.His573=) | |
4 | g.186288501C>A | CA358946008 | F11,F11-AS1 | c.1765C>A (p.Leu589Met) c.365C>A c.1603C>A (p.Leu535Met) n.284C>A n.993G>T c.1768C>A (p.Leu590Met) c.1672C>A (p.Leu558Met) c.1498C>A (p.Leu500Met) c.1720C>A (p.Leu574Met) | |
4 | g.186288501C>G | CA358946010 | F11,F11-AS1 | c.1765C>G (p.Leu589Val) c.365C>G c.1603C>G (p.Leu535Val) n.284C>G n.993G>C c.1768C>G (p.Leu590Val) c.1672C>G (p.Leu558Val) c.1498C>G (p.Leu500Val) c.1720C>G (p.Leu574Val) | |
4 | g.186288501C>T | CA442641364 | F11,F11-AS1 | c.1765C>T (p.Leu589=) c.365C>T c.1603C>T (p.Leu535=) n.284C>T n.993G>A c.1768C>T (p.Leu590=) c.1672C>T (p.Leu558=) c.1498C>T (p.Leu500=) c.1720C>T (p.Leu574=) | |
4 | g.186288502T>A | CA358946015 | F11,F11-AS1 | c.1766T>A (p.Leu589Gln) c.366T>A c.1604T>A (p.Leu535Gln) n.285T>A n.992A>T c.1769T>A (p.Leu590Gln) c.1673T>A (p.Leu558Gln) c.1499T>A (p.Leu500Gln) c.1721T>A (p.Leu574Gln) | |
4 | g.186288502T>C | CA112106205 | F11,F11-AS1 | c.1766T>C (p.Leu589Pro) c.366T>C c.1604T>C (p.Leu535Pro) n.285T>C n.992A>G c.1769T>C (p.Leu590Pro) c.1673T>C (p.Leu558Pro) c.1499T>C (p.Leu500Pro) c.1721T>C (p.Leu574Pro) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288502T>G | CA358946012 | F11,F11-AS1 | c.1766T>G (p.Leu589Arg) c.366T>G c.1604T>G (p.Leu535Arg) n.285T>G n.992A>C c.1769T>G (p.Leu590Arg) c.1673T>G (p.Leu558Arg) c.1499T>G (p.Leu500Arg) c.1721T>G (p.Leu574Arg) | |
4 | g.186288502T= | CA1519939822 | F11,F11-AS1 | c.1766T= (p.Leu589=) c.366T= c.1604T= (p.Leu535=) n.285T= n.992A= c.1769T= (p.Leu590=) c.1673T= (p.Leu558=) c.1499T= (p.Leu500=) c.1721T= (p.Leu574=) | |
4 | g.186288503G>A | CA442641365 | F11,F11-AS1 | c.1767G>A (p.Leu589=) c.367G>A c.1605G>A (p.Leu535=) n.286G>A n.991C>T c.1770G>A (p.Leu590=) c.1674G>A (p.Leu558=) c.1500G>A (p.Leu500=) c.1722G>A (p.Leu574=) | |
4 | g.186288503G>C | CA442641366 | F11,F11-AS1 | c.1767G>C (p.Leu589=) c.367G>C c.1605G>C (p.Leu535=) n.286G>C n.991C>G c.1770G>C (p.Leu590=) c.1674G>C (p.Leu558=) c.1500G>C (p.Leu500=) c.1722G>C (p.Leu574=) | |
4 | g.186288503G= | CA1519939823 | F11,F11-AS1 | c.1767G= (p.Leu589=) c.367G= c.1605G= (p.Leu535=) n.286G= n.991C= c.1770G= (p.Leu590=) c.1674G= (p.Leu558=) c.1500G= (p.Leu500=) c.1722G= (p.Leu574=) | |
4 | g.186288503G>T | CA3164119 | F11,F11-AS1 | c.1767G>T (p.Leu589=) c.367G>T c.1605G>T (p.Leu535=) n.286G>T n.991C>A c.1770G>T (p.Leu590=) c.1674G>T (p.Leu558=) c.1500G>T (p.Leu500=) c.1722G>T (p.Leu574=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288504del | CA2695204112 | F11,F11-AS1 | c.1768del (p.Val590Ter) c.368del c.1606del (p.Val536Ter) n.287del n.991del c.1771del (p.Val591Ter) c.1675del (p.Val559Ter) c.1501del (p.Val501Ter) c.1723del (p.Val575Ter) | |
4 | g.186288504G>A | CA358946019 | F11,F11-AS1 | c.1768G>A (p.Val590Ile) c.368G>A c.1606G>A (p.Val536Ile) n.287G>A n.990C>T c.1771G>A (p.Val591Ile) c.1675G>A (p.Val559Ile) c.1501G>A (p.Val501Ile) c.1723G>A (p.Val575Ile) | |
4 | g.186288504G>C | CA358946020 | F11,F11-AS1 | c.1768G>C (p.Val590Leu) c.368G>C c.1606G>C (p.Val536Leu) n.287G>C n.990C>G c.1771G>C (p.Val591Leu) c.1675G>C (p.Val559Leu) c.1501G>C (p.Val501Leu) c.1723G>C (p.Val575Leu) | |
4 | g.186288504G>T | CA358946022 | F11,F11-AS1 | c.1768G>T (p.Val590Leu) c.368G>T c.1606G>T (p.Val536Leu) n.287G>T n.990C>A c.1771G>T (p.Val591Leu) c.1675G>T (p.Val559Leu) c.1501G>T (p.Val501Leu) c.1723G>T (p.Val575Leu) | |
4 | g.186288505T>A | CA358946025 | F11,F11-AS1 | c.1769T>A (p.Val590Glu) c.369T>A c.1607T>A (p.Val536Glu) n.288T>A n.989A>T c.1772T>A (p.Val591Glu) c.1676T>A (p.Val559Glu) c.1502T>A (p.Val501Glu) c.1724T>A (p.Val575Glu) | |
4 | g.186288505T>C | CA358946026 | F11,F11-AS1 | c.1769T>C (p.Val590Ala) c.369T>C c.1607T>C (p.Val536Ala) n.288T>C n.989A>G c.1772T>C (p.Val591Ala) c.1676T>C (p.Val559Ala) c.1502T>C (p.Val501Ala) c.1724T>C (p.Val575Ala) | gnomAD v4 |
4 | g.186288505T>G | CA358946028 | F11,F11-AS1 | c.1769T>G (p.Val590Gly) c.369T>G c.1607T>G (p.Val536Gly) n.288T>G n.989A>C c.1772T>G (p.Val591Gly) c.1676T>G (p.Val559Gly) c.1502T>G (p.Val501Gly) c.1724T>G (p.Val575Gly) | |
4 | g.186288506A>C | CA442641369 | F11,F11-AS1 | c.1770A>C (p.Val590=) c.370A>C c.1608A>C (p.Val536=) n.289A>C n.988T>G c.1773A>C (p.Val591=) c.1677A>C (p.Val559=) c.1503A>C (p.Val501=) c.1725A>C (p.Val575=) | |
4 | g.186288506A>G | CA442641368 | F11,F11-AS1 | c.1770A>G (p.Val590=) c.370A>G c.1608A>G (p.Val536=) n.289A>G n.988T>C c.1773A>G (p.Val591=) c.1677A>G (p.Val559=) c.1503A>G (p.Val501=) c.1725A>G (p.Val575=) | gnomAD v4 |
4 | g.186288506A>T | CA442641367 | F11,F11-AS1 | c.1770A>T (p.Val590=) c.370A>T c.1608A>T (p.Val536=) n.289A>T n.988T>A c.1773A>T (p.Val591=) c.1677A>T (p.Val559=) c.1503A>T (p.Val501=) c.1725A>T (p.Val575=) | |
4 | g.186288507G>A | CA358946029 | F11,F11-AS1 | c.1771G>A (p.Gly591Ser) c.371G>A c.1609G>A (p.Gly537Ser) n.290G>A n.987C>T c.1774G>A (p.Gly592Ser) c.1678G>A (p.Gly560Ser) c.1504G>A (p.Gly502Ser) c.1726G>A (p.Gly576Ser) | COSMIC COSMIC |
4 | g.186288507G>C | CA358946031 | F11,F11-AS1 | c.1771G>C (p.Gly591Arg) c.371G>C c.1609G>C (p.Gly537Arg) n.290G>C n.987C>G c.1774G>C (p.Gly592Arg) c.1678G>C (p.Gly560Arg) c.1504G>C (p.Gly502Arg) c.1726G>C (p.Gly576Arg) | |
4 | g.186288507G>T | CA358946033 | F11,F11-AS1 | c.1771G>T (p.Gly591Cys) c.371G>T c.1609G>T (p.Gly537Cys) n.290G>T n.987C>A c.1774G>T (p.Gly592Cys) c.1678G>T (p.Gly560Cys) c.1504G>T (p.Gly502Cys) c.1726G>T (p.Gly576Cys) | |
4 | g.186288507_186288508delinsAA | CA645540562 | F11,F11-AS1 | c.1771_1772delinsAA (p.Gly591Asn) c.371_372delinsAA c.1609_1610delinsAA (p.Gly537Asn) n.290_291delinsAA n.986_987delinsTT c.1774_1775delinsAA (p.Gly592Asn) c.1678_1679delinsAA (p.Gly560Asn) c.1504_1505delinsAA (p.Gly502Asn) c.1726_1727delinsAA (p.Gly576Asn) | COSMIC COSMIC |
4 | g.186288508G>A | CA358946036 | F11,F11-AS1 | c.1772G>A (p.Gly591Asp) c.372G>A c.1610G>A (p.Gly537Asp) n.291G>A n.986C>T c.1775G>A (p.Gly592Asp) c.1679G>A (p.Gly560Asp) c.1505G>A (p.Gly502Asp) c.1727G>A (p.Gly576Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288508G>C | CA358946038 | F11,F11-AS1 | c.1772G>C (p.Gly591Ala) c.372G>C c.1610G>C (p.Gly537Ala) n.291G>C n.986C>G c.1775G>C (p.Gly592Ala) c.1679G>C (p.Gly560Ala) c.1505G>C (p.Gly502Ala) c.1727G>C (p.Gly576Ala) | ClinVar dbSNP |
4 | g.186288508G= | CA1519939824 | F11,F11-AS1 | c.1772G= (p.Gly591=) c.372G= c.1610G= (p.Gly537=) n.291G= n.986C= c.1775G= (p.Gly592=) c.1679G= (p.Gly560=) c.1505G= (p.Gly502=) c.1727G= (p.Gly576=) | |
4 | g.186288508G>T | CA358946040 | F11,F11-AS1 | c.1772G>T (p.Gly591Val) c.372G>T c.1610G>T (p.Gly537Val) n.291G>T n.986C>A c.1775G>T (p.Gly592Val) c.1679G>T (p.Gly560Val) c.1505G>T (p.Gly502Val) c.1727G>T (p.Gly576Val) | |
4 | g.186288509C>A | CA442641370 | F11,F11-AS1 | c.1773C>A (p.Gly591=) c.373C>A c.1611C>A (p.Gly537=) n.292C>A n.985G>T c.1776C>A (p.Gly592=) c.1680C>A (p.Gly560=) c.1506C>A (p.Gly502=) c.1728C>A (p.Gly576=) | |
4 | g.186288509C= | CA1519939825 | F11,F11-AS1 | c.1773C= (p.Gly591=) c.373C= c.1611C= (p.Gly537=) n.292C= n.985G= c.1776C= (p.Gly592=) c.1680C= (p.Gly560=) c.1506C= (p.Gly502=) c.1728C= (p.Gly576=) | |
4 | g.186288509C>G | CA442641371 | F11,F11-AS1 | c.1773C>G (p.Gly591=) c.373C>G c.1611C>G (p.Gly537=) n.292C>G n.985G>C c.1776C>G (p.Gly592=) c.1680C>G (p.Gly560=) c.1506C>G (p.Gly502=) c.1728C>G (p.Gly576=) | |
4 | g.186288509C>T | CA442641372 | F11,F11-AS1 | c.1773C>T (p.Gly591=) c.373C>T c.1611C>T (p.Gly537=) n.292C>T n.985G>A c.1776C>T (p.Gly592=) c.1680C>T (p.Gly560=) c.1506C>T (p.Gly502=) c.1728C>T (p.Gly576=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288510A= | CA1519939826 | F11,F11-AS1 | c.1774A= (p.Ile592=) c.374A= c.1612A= (p.Ile538=) n.293A= n.984T= c.1777A= (p.Ile593=) c.1681A= (p.Ile561=) c.1507A= (p.Ile503=) c.1729A= (p.Ile577=) | |
4 | g.186288510A>C | CA358946044 | F11,F11-AS1 | c.1774A>C (p.Ile592Leu) c.374A>C c.1612A>C (p.Ile538Leu) n.293A>C n.984T>G c.1777A>C (p.Ile593Leu) c.1681A>C (p.Ile561Leu) c.1507A>C (p.Ile503Leu) c.1729A>C (p.Ile577Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288510A>G | CA358946046 | F11,F11-AS1 | c.1774A>G (p.Ile592Val) c.374A>G c.1612A>G (p.Ile538Val) n.293A>G n.984T>C c.1777A>G (p.Ile593Val) c.1681A>G (p.Ile561Val) c.1507A>G (p.Ile503Val) c.1729A>G (p.Ile577Val) | |
4 | g.186288510A>T | CA358946042 | F11,F11-AS1 | c.1774A>T (p.Ile592Phe) c.374A>T c.1612A>T (p.Ile538Phe) n.293A>T n.984T>A c.1777A>T (p.Ile593Phe) c.1681A>T (p.Ile561Phe) c.1507A>T (p.Ile503Phe) c.1729A>T (p.Ile577Phe) | |
4 | g.186288511T>A | CA358946048 | F11,F11-AS1 | c.1775T>A (p.Ile592Asn) c.375T>A c.1613T>A (p.Ile538Asn) n.294T>A n.983A>T c.1778T>A (p.Ile593Asn) c.1682T>A (p.Ile561Asn) c.1508T>A (p.Ile503Asn) c.1730T>A (p.Ile577Asn) | |
4 | g.186288511T>C | CA358946050 | F11,F11-AS1 | c.1775T>C (p.Ile592Thr) c.375T>C c.1613T>C (p.Ile538Thr) n.294T>C n.983A>G c.1778T>C (p.Ile593Thr) c.1682T>C (p.Ile561Thr) c.1508T>C (p.Ile503Thr) c.1730T>C (p.Ile577Thr) | |
4 | g.186288511T>G | CA358946052 | F11,F11-AS1 | c.1775T>G (p.Ile592Ser) c.375T>G c.1613T>G (p.Ile538Ser) n.294T>G n.983A>C c.1778T>G (p.Ile593Ser) c.1682T>G (p.Ile561Ser) c.1508T>G (p.Ile503Ser) c.1730T>G (p.Ile577Ser) | |
4 | g.186288512C>A | CA442641373 | F11,F11-AS1 | c.1776C>A (p.Ile592=) c.376C>A c.1614C>A (p.Ile538=) n.295C>A n.982G>T c.1779C>A (p.Ile593=) c.1683C>A (p.Ile561=) c.1509C>A (p.Ile503=) c.1731C>A (p.Ile577=) | |
4 | g.186288512C= | CA1519939827 | F11,F11-AS1 | c.1776C= (p.Ile592=) c.376C= c.1614C= (p.Ile538=) n.295C= n.982G= c.1779C= (p.Ile593=) c.1683C= (p.Ile561=) c.1509C= (p.Ile503=) c.1731C= (p.Ile577=) | |
4 | g.186288512C>G | CA358946054 | F11,F11-AS1 | c.1776C>G (p.Ile592Met) c.376C>G c.1614C>G (p.Ile538Met) n.295C>G n.982G>C c.1779C>G (p.Ile593Met) c.1683C>G (p.Ile561Met) c.1509C>G (p.Ile503Met) c.1731C>G (p.Ile577Met) | gnomAD v4 |
4 | g.186288512C>T | CA3164120 | F11,F11-AS1 | c.1776C>T (p.Ile592=) c.376C>T c.1614C>T (p.Ile538=) n.295C>T n.982G>A c.1779C>T (p.Ile593=) c.1683C>T (p.Ile561=) c.1509C>T (p.Ile503=) c.1731C>T (p.Ile577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288513A= | CA1519939828 | F11,F11-AS1 | c.1777A= (p.Thr593=) c.377A= c.1615A= (p.Thr539=) n.296A= n.981T= c.1780A= (p.Thr594=) c.1684A= (p.Thr562=) c.1510A= (p.Thr504=) c.1732A= (p.Thr578=) | |
4 | g.186288513A>C | CA358946057 | F11,F11-AS1 | c.1777A>C (p.Thr593Pro) c.377A>C c.1615A>C (p.Thr539Pro) n.296A>C n.981T>G c.1780A>C (p.Thr594Pro) c.1684A>C (p.Thr562Pro) c.1510A>C (p.Thr504Pro) c.1732A>C (p.Thr578Pro) | |
4 | g.186288513A>G | CA358946059 | F11,F11-AS1 | c.1777A>G (p.Thr593Ala) c.377A>G c.1615A>G (p.Thr539Ala) n.296A>G n.981T>C c.1780A>G (p.Thr594Ala) c.1684A>G (p.Thr562Ala) c.1510A>G (p.Thr504Ala) c.1732A>G (p.Thr578Ala) | ClinVar dbSNP gnomAD v4 |
4 | g.186288513A>T | CA358946061 | F11,F11-AS1 | c.1777A>T (p.Thr593Ser) c.377A>T c.1615A>T (p.Thr539Ser) n.296A>T n.981T>A c.1780A>T (p.Thr594Ser) c.1684A>T (p.Thr562Ser) c.1510A>T (p.Thr504Ser) c.1732A>T (p.Thr578Ser) | ClinVar gnomAD v4 |
4 | g.186288514C>A | CA358946063 | F11,F11-AS1 | c.1778C>A (p.Thr593Lys) c.378C>A c.1616C>A (p.Thr539Lys) n.297C>A n.980G>T c.1781C>A (p.Thr594Lys) c.1685C>A (p.Thr562Lys) c.1511C>A (p.Thr504Lys) c.1733C>A (p.Thr578Lys) | |
4 | g.186288514C= | CA1519939829 | F11,F11-AS1 | c.1778C= (p.Thr593=) c.378C= c.1616C= (p.Thr539=) n.297C= n.980G= c.1781C= (p.Thr594=) c.1685C= (p.Thr562=) c.1511C= (p.Thr504=) c.1733C= (p.Thr578=) | |
4 | g.186288514C>G | CA358946065 | F11,F11-AS1 | c.1778C>G (p.Thr593Arg) c.378C>G c.1616C>G (p.Thr539Arg) n.297C>G n.980G>C c.1781C>G (p.Thr594Arg) c.1685C>G (p.Thr562Arg) c.1511C>G (p.Thr504Arg) c.1733C>G (p.Thr578Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288514C>T | CA3164121 | F11,F11-AS1 | c.1778C>T (p.Thr593Met) c.378C>T c.1616C>T (p.Thr539Met) n.297C>T n.980G>A c.1781C>T (p.Thr594Met) c.1685C>T (p.Thr562Met) c.1511C>T (p.Thr504Met) c.1733C>T (p.Thr578Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288515G>A | CA442641374 | F11,F11-AS1 | c.1779G>A (p.Thr593=) c.379G>A c.1617G>A (p.Thr539=) n.298G>A n.979C>T c.1782G>A (p.Thr594=) c.1686G>A (p.Thr562=) c.1512G>A (p.Thr504=) c.1734G>A (p.Thr578=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
4 | g.186288515G>C | CA442641375 | F11,F11-AS1 | c.1779G>C (p.Thr593=) c.379G>C c.1617G>C (p.Thr539=) n.298G>C n.979C>G c.1782G>C (p.Thr594=) c.1686G>C (p.Thr562=) c.1512G>C (p.Thr504=) c.1734G>C (p.Thr578=) | |
4 | g.186288515G>T | CA442641376 | F11,F11-AS1 | c.1779G>T (p.Thr593=) c.379G>T c.1617G>T (p.Thr539=) n.298G>T n.979C>A c.1782G>T (p.Thr594=) c.1686G>T (p.Thr562=) c.1512G>T (p.Thr504=) c.1734G>T (p.Thr578=) | gnomAD v4 |
4 | g.186288516A>C | CA358946072 | F11,F11-AS1 | c.1780A>C (p.Ser594Arg) c.380A>C c.1618A>C (p.Ser540Arg) n.299A>C n.978T>G c.1783A>C (p.Ser595Arg) c.1687A>C (p.Ser563Arg) c.1513A>C (p.Ser505Arg) c.1735A>C (p.Ser579Arg) | |
4 | g.186288516A>G | CA358946071 | F11,F11-AS1 | c.1780A>G (p.Ser594Gly) c.380A>G c.1618A>G (p.Ser540Gly) n.299A>G n.978T>C c.1783A>G (p.Ser595Gly) c.1687A>G (p.Ser563Gly) c.1513A>G (p.Ser505Gly) c.1735A>G (p.Ser579Gly) | |
4 | g.186288516A>T | CA358946069 | F11,F11-AS1 | c.1780A>T (p.Ser594Cys) c.380A>T c.1618A>T (p.Ser540Cys) n.299A>T n.978T>A c.1783A>T (p.Ser595Cys) c.1687A>T (p.Ser563Cys) c.1513A>T (p.Ser505Cys) c.1735A>T (p.Ser579Cys) | |
4 | g.186288517G>A | CA358946075 | F11,F11-AS1 | c.1781G>A (p.Ser594Asn) c.381G>A c.1619G>A (p.Ser540Asn) n.300G>A n.977C>T c.1784G>A (p.Ser595Asn) c.1688G>A (p.Ser563Asn) c.1514G>A (p.Ser505Asn) c.1736G>A (p.Ser579Asn) | |
4 | g.186288517G>C | CA358946077 | F11,F11-AS1 | c.1781G>C (p.Ser594Thr) c.381G>C c.1619G>C (p.Ser540Thr) n.300G>C n.977C>G c.1784G>C (p.Ser595Thr) c.1688G>C (p.Ser563Thr) c.1514G>C (p.Ser505Thr) c.1736G>C (p.Ser579Thr) | |
4 | g.186288517G>T | CA358946078 | F11,F11-AS1 | c.1781G>T (p.Ser594Ile) c.381G>T c.1619G>T (p.Ser540Ile) n.300G>T n.977C>A c.1784G>T (p.Ser595Ile) c.1688G>T (p.Ser563Ile) c.1514G>T (p.Ser505Ile) c.1736G>T (p.Ser579Ile) | |
4 | g.186288518C>A | CA121761 | F11,F11-AS1 | c.1782C>A (p.Ser594Arg) c.382C>A c.1620C>A (p.Ser540Arg) n.301C>A n.976G>T c.1785C>A (p.Ser595Arg) c.1689C>A (p.Ser563Arg) c.1515C>A (p.Ser505Arg) c.1737C>A (p.Ser579Arg) | ClinVar dbSNP gnomAD v4 |
4 | g.186288518C= | CA1519939830 | F11,F11-AS1 | c.1782C= (p.Ser594=) c.382C= c.1620C= (p.Ser540=) n.301C= n.976G= c.1785C= (p.Ser595=) c.1689C= (p.Ser563=) c.1515C= (p.Ser505=) c.1737C= (p.Ser579=) | |
4 | g.186288518C>G | CA358946080 | F11,F11-AS1 | c.1782C>G (p.Ser594Arg) c.382C>G c.1620C>G (p.Ser540Arg) n.301C>G n.976G>C c.1785C>G (p.Ser595Arg) c.1689C>G (p.Ser563Arg) c.1515C>G (p.Ser505Arg) c.1737C>G (p.Ser579Arg) | |
4 | g.186288518C>T | CA442641377 | F11,F11-AS1 | c.1782C>T (p.Ser594=) c.382C>T c.1620C>T (p.Ser540=) n.301C>T n.976G>A c.1785C>T (p.Ser595=) c.1689C>T (p.Ser563=) c.1515C>T (p.Ser505=) c.1737C>T (p.Ser579=) | ClinVar dbSNP gnomAD v4 |
4 | g.186288519T>A | CA3164122 | F11,F11-AS1 | c.1783T>A (p.Trp595Arg) c.383T>A c.1621T>A (p.Trp541Arg) n.302T>A n.975A>T c.1786T>A (p.Trp596Arg) c.1690T>A (p.Trp564Arg) c.1516T>A (p.Trp506Arg) c.1738T>A (p.Trp580Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.186288519T>C | CA358946083 | F11,F11-AS1 | c.1783T>C (p.Trp595Arg) c.383T>C c.1621T>C (p.Trp541Arg) n.302T>C n.975A>G c.1786T>C (p.Trp596Arg) c.1690T>C (p.Trp564Arg) c.1516T>C (p.Trp506Arg) c.1738T>C (p.Trp580Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288519T>G | CA358946085 | F11,F11-AS1 | c.1783T>G (p.Trp595Gly) c.383T>G c.1621T>G (p.Trp541Gly) n.302T>G n.975A>C c.1786T>G (p.Trp596Gly) c.1690T>G (p.Trp564Gly) c.1516T>G (p.Trp506Gly) c.1738T>G (p.Trp580Gly) | |
4 | g.186288519T= | CA1519939831 | F11,F11-AS1 | c.1783T= (p.Trp595=) c.383T= c.1621T= (p.Trp541=) n.302T= n.975A= c.1786T= (p.Trp596=) c.1690T= (p.Trp564=) c.1516T= (p.Trp506=) c.1738T= (p.Trp580=) | |
4 | g.186288520G>A | CA3164123 | F11,F11-AS1 | c.1784G>A (p.Trp595Ter) c.384G>A c.1622G>A (p.Trp541Ter) n.303G>A n.974C>T c.1787G>A (p.Trp596Ter) c.1691G>A (p.Trp564Ter) c.1517G>A (p.Trp506Ter) c.1739G>A (p.Trp580Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288520G>C | CA358946088 | F11,F11-AS1 | c.1784G>C (p.Trp595Ser) c.384G>C c.1622G>C (p.Trp541Ser) n.303G>C n.974C>G c.1787G>C (p.Trp596Ser) c.1691G>C (p.Trp564Ser) c.1517G>C (p.Trp506Ser) c.1739G>C (p.Trp580Ser) | |
4 | g.186288520G= | CA1519939832 | F11,F11-AS1 | c.1784G= (p.Trp595=) c.384G= c.1622G= (p.Trp541=) n.303G= n.974C= c.1787G= (p.Trp596=) c.1691G= (p.Trp564=) c.1517G= (p.Trp506=) c.1739G= (p.Trp580=) | |
4 | g.186288520G>T | CA358946090 | F11,F11-AS1 | c.1784G>T (p.Trp595Leu) c.384G>T c.1622G>T (p.Trp541Leu) n.303G>T n.974C>A c.1787G>T (p.Trp596Leu) c.1691G>T (p.Trp564Leu) c.1517G>T (p.Trp506Leu) c.1739G>T (p.Trp580Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288523dup | CA2832528908 | F11,F11-AS1 | c.1787dup (p.Glu597ArgfsTer?) c.387dup c.1625dup (p.Glu543ArgfsTer?) n.306dup n.974dup c.1790dup (p.Glu598ArgfsTer?) c.1694dup (p.Glu566ArgfsTer?) c.1520dup (p.Glu508ArgfsTer?) c.1742dup (p.Glu582ArgfsTer?) | |
4 | g.186288521G>A | CA358946097 | F11,F11-AS1 | c.1785G>A (p.Trp595Ter) c.385G>A c.1623G>A (p.Trp541Ter) n.304G>A n.973C>T c.1788G>A (p.Trp596Ter) c.1692G>A (p.Trp564Ter) c.1518G>A (p.Trp506Ter) c.1740G>A (p.Trp580Ter) | |
4 | g.186288521G>C | CA358946095 | F11,F11-AS1 | c.1785G>C (p.Trp595Cys) c.385G>C c.1623G>C (p.Trp541Cys) n.304G>C n.973C>G c.1788G>C (p.Trp596Cys) c.1692G>C (p.Trp564Cys) c.1518G>C (p.Trp506Cys) c.1740G>C (p.Trp580Cys) | |
4 | g.186288521G>T | CA358946093 | F11,F11-AS1 | c.1785G>T (p.Trp595Cys) c.385G>T c.1623G>T (p.Trp541Cys) n.304G>T n.973C>A c.1788G>T (p.Trp596Cys) c.1692G>T (p.Trp564Cys) c.1518G>T (p.Trp506Cys) c.1740G>T (p.Trp580Cys) | |
4 | g.186288521_186288527delinsGGGCGAA | CA1519939833 | F11,F11-AS1 | c.1785_1791delinsGGGCGAA (p.Trp595=) c.385_391delinsGGGCGAA c.1623_1629delinsGGGCGAA (p.Trp541=) n.304_310delinsGGGCGAA n.967_973delinsTTCGCCC c.1788_1794delinsGGGCGAA (p.Trp596=) c.1692_1698delinsGGGCGAA (p.Trp564=) c.1518_1524delinsGGGCGAA (p.Trp506=) c.1740_1746delinsGGGCGAA (p.Trp580=) | |
4 | g.186288522G>A | CA358946099 | F11,F11-AS1 | c.1786G>A (p.Gly596Ser) c.386G>A c.1624G>A (p.Gly542Ser) n.305G>A n.972C>T c.1789G>A (p.Gly597Ser) c.1693G>A (p.Gly565Ser) c.1519G>A (p.Gly507Ser) c.1741G>A (p.Gly581Ser) | |
4 | g.186288522G>C | CA358946101 | F11,F11-AS1 | c.1786G>C (p.Gly596Arg) c.386G>C c.1624G>C (p.Gly542Arg) n.305G>C n.972C>G c.1789G>C (p.Gly597Arg) c.1693G>C (p.Gly565Arg) c.1519G>C (p.Gly507Arg) c.1741G>C (p.Gly581Arg) | |
4 | g.186288522G= | CA1519939834 | F11,F11-AS1 | c.1786G= (p.Gly596=) c.386G= c.1624G= (p.Gly542=) n.305G= n.972C= c.1789G= (p.Gly597=) c.1693G= (p.Gly565=) c.1519G= (p.Gly507=) c.1741G= (p.Gly581=) | |
4 | g.186288522G>T | CA358946102 | F11,F11-AS1 | c.1786G>T (p.Gly596Cys) c.386G>T c.1624G>T (p.Gly542Cys) n.305G>T n.972C>A c.1789G>T (p.Gly597Cys) c.1693G>T (p.Gly565Cys) c.1519G>T (p.Gly507Cys) c.1741G>T (p.Gly581Cys) | dbSNP |
4 | g.186288523_186288525dup | CA2672904153 | F11,F11-AS1 | c.1787_1789dup (p.Gly596_Glu597insGly) c.387_389dup c.1625_1627dup (p.Gly542_Glu543insGly) n.306_308dup n.970_972dup c.1790_1792dup (p.Gly597_Glu598insGly) c.1694_1696dup (p.Gly565_Glu566insGly) c.1520_1522dup (p.Gly507_Glu508insGly) c.1742_1744dup (p.Gly581_Glu582insGly) | gnomAD v4 |
4 | g.186288525_186288530del | CA1071927986 | F11,F11-AS1 | c.1789_1794del (p.Glu597_Gly598del) c.389_394del c.1627_1632del (p.Glu543_Gly544del) n.308_313del n.967_972del c.1792_1797del (p.Glu598_Gly599del) c.1696_1701del (p.Glu566_Gly567del) c.1522_1527del (p.Glu508_Gly509del) c.1744_1749del (p.Glu582_Gly583del) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288523G>A | CA3164124 | F11,F11-AS1 | c.1787G>A (p.Gly596Asp) c.387G>A c.1625G>A (p.Gly542Asp) n.306G>A n.971C>T c.1790G>A (p.Gly597Asp) c.1694G>A (p.Gly565Asp) c.1520G>A (p.Gly507Asp) c.1742G>A (p.Gly581Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288523G>C | CA358946106 | F11,F11-AS1 | c.1787G>C (p.Gly596Ala) c.387G>C c.1625G>C (p.Gly542Ala) n.306G>C n.971C>G c.1790G>C (p.Gly597Ala) c.1694G>C (p.Gly565Ala) c.1520G>C (p.Gly507Ala) c.1742G>C (p.Gly581Ala) | |
4 | g.186288523G= | CA1519939835 | F11,F11-AS1 | c.1787G= (p.Gly596=) c.387G= c.1625G= (p.Gly542=) n.306G= n.971C= c.1790G= (p.Gly597=) c.1694G= (p.Gly565=) c.1520G= (p.Gly507=) c.1742G= (p.Gly581=) | |
4 | g.186288523G>T | CA358946107 | F11,F11-AS1 | c.1787G>T (p.Gly596Val) c.387G>T c.1625G>T (p.Gly542Val) n.306G>T n.971C>A c.1790G>T (p.Gly597Val) c.1694G>T (p.Gly565Val) c.1520G>T (p.Gly507Val) c.1742G>T (p.Gly581Val) | |
4 | g.186288524C>A | CA442641378 | F11,F11-AS1 | c.1788C>A (p.Gly596=) c.388C>A c.1626C>A (p.Gly542=) n.307C>A n.970G>T c.1791C>A (p.Gly597=) c.1695C>A (p.Gly565=) c.1521C>A (p.Gly507=) c.1743C>A (p.Gly581=) | ClinVar |
4 | g.186288524C= | CA1519939836 | F11,F11-AS1 | c.1788C= (p.Gly596=) c.388C= c.1626C= (p.Gly542=) n.307C= n.970G= c.1791C= (p.Gly597=) c.1695C= (p.Gly565=) c.1521C= (p.Gly507=) c.1743C= (p.Gly581=) | |
4 | g.186288524C>G | CA442641379 | F11,F11-AS1 | c.1788C>G (p.Gly596=) c.388C>G c.1626C>G (p.Gly542=) n.307C>G n.970G>C c.1791C>G (p.Gly597=) c.1695C>G (p.Gly565=) c.1521C>G (p.Gly507=) c.1743C>G (p.Gly581=) | |
4 | g.186288524C>T | CA442641380 | F11,F11-AS1 | c.1788C>T (p.Gly596=) c.388C>T c.1626C>T (p.Gly542=) n.307C>T n.970G>A c.1791C>T (p.Gly597=) c.1695C>T (p.Gly565=) c.1521C>T (p.Gly507=) c.1743C>T (p.Gly581=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288524dup | CA2708194158 | F11,F11-AS1 | c.1788dup (p.Glu597ArgfsTer?) c.388dup c.1626dup (p.Glu543ArgfsTer?) n.307dup n.970dup c.1791dup (p.Glu598ArgfsTer?) c.1695dup (p.Glu566ArgfsTer?) c.1521dup (p.Glu508ArgfsTer?) c.1743dup (p.Glu582ArgfsTer?) | dbSNP |
4 | g.186288525G>A | CA219130 | F11,F11-AS1 | c.1789G>A (p.Glu597Lys) c.389G>A c.1627G>A (p.Glu543Lys) n.308G>A n.969C>T c.1792G>A (p.Glu598Lys) c.1696G>A (p.Glu566Lys) c.1522G>A (p.Glu508Lys) c.1744G>A (p.Glu582Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288525G>C | CA358946110 | F11,F11-AS1 | c.1789G>C (p.Glu597Gln) c.389G>C c.1627G>C (p.Glu543Gln) n.308G>C n.969C>G c.1792G>C (p.Glu598Gln) c.1696G>C (p.Glu566Gln) c.1522G>C (p.Glu508Gln) c.1744G>C (p.Glu582Gln) | |
4 | g.186288525G= | CA1519939837 | F11,F11-AS1 | c.1789G= (p.Glu597=) c.389G= c.1627G= (p.Glu543=) n.308G= n.969C= c.1792G= (p.Glu598=) c.1696G= (p.Glu566=) c.1522G= (p.Glu508=) c.1744G= (p.Glu582=) | |
4 | g.186288525G>T | CA16040952 | F11,F11-AS1 | c.1789G>T (p.Glu597Ter) c.389G>T c.1627G>T (p.Glu543Ter) n.308G>T n.969C>A c.1792G>T (p.Glu598Ter) c.1696G>T (p.Glu566Ter) c.1522G>T (p.Glu508Ter) c.1744G>T (p.Glu582Ter) | ClinVar dbSNP gnomAD v4 |
4 | g.186288526A>C | CA358946114 | F11,F11-AS1 | c.1790A>C (p.Glu597Ala) c.390A>C c.1628A>C (p.Glu543Ala) n.309A>C n.968T>G c.1793A>C (p.Glu598Ala) c.1697A>C (p.Glu566Ala) c.1523A>C (p.Glu508Ala) c.1745A>C (p.Glu582Ala) | |
4 | g.186288526A>G | CA358946116 | F11,F11-AS1 | c.1790A>G (p.Glu597Gly) c.390A>G c.1628A>G (p.Glu543Gly) n.309A>G n.968T>C c.1793A>G (p.Glu598Gly) c.1697A>G (p.Glu566Gly) c.1523A>G (p.Glu508Gly) c.1745A>G (p.Glu582Gly) | |
4 | g.186288526A>T | CA358946118 | F11,F11-AS1 | c.1790A>T (p.Glu597Val) c.390A>T c.1628A>T (p.Glu543Val) n.309A>T n.968T>A c.1793A>T (p.Glu598Val) c.1697A>T (p.Glu566Val) c.1523A>T (p.Glu508Val) c.1745A>T (p.Glu582Val) | |
4 | g.186288527A>C | CA358946120 | F11,F11-AS1 | c.1791A>C (p.Glu597Asp) c.391A>C c.1629A>C (p.Glu543Asp) n.310A>C n.967T>G c.1794A>C (p.Glu598Asp) c.1698A>C (p.Glu566Asp) c.1524A>C (p.Glu508Asp) c.1746A>C (p.Glu582Asp) | |
4 | g.186288527A>G | CA442641381 | F11,F11-AS1 | c.1791A>G (p.Glu597=) c.391A>G c.1629A>G (p.Glu543=) n.310A>G n.967T>C c.1794A>G (p.Glu598=) c.1698A>G (p.Glu566=) c.1524A>G (p.Glu508=) c.1746A>G (p.Glu582=) | COSMIC COSMIC |
4 | g.186288527A>T | CA358946122 | F11,F11-AS1 | c.1791A>T (p.Glu597Asp) c.391A>T c.1629A>T (p.Glu543Asp) n.310A>T n.967T>A c.1794A>T (p.Glu598Asp) c.1698A>T (p.Glu566Asp) c.1524A>T (p.Glu508Asp) c.1746A>T (p.Glu582Asp) | |
4 | g.186288528G>A | CA358946128 | F11,F11-AS1 | c.1792G>A (p.Gly598Ser) c.392G>A c.1630G>A (p.Gly544Ser) n.311G>A n.966C>T c.1795G>A (p.Gly599Ser) c.1699G>A (p.Gly567Ser) c.1525G>A (p.Gly509Ser) c.1747G>A (p.Gly583Ser) | |
4 | g.186288528G>C | CA358946124 | F11,F11-AS1 | c.1792G>C (p.Gly598Arg) c.392G>C c.1630G>C (p.Gly544Arg) n.311G>C n.966C>G c.1795G>C (p.Gly599Arg) c.1699G>C (p.Gly567Arg) c.1525G>C (p.Gly509Arg) c.1747G>C (p.Gly583Arg) | |
4 | g.186288528G>T | CA358946126 | F11,F11-AS1 | c.1792G>T (p.Gly598Cys) c.392G>T c.1630G>T (p.Gly544Cys) n.311G>T n.966C>A c.1795G>T (p.Gly599Cys) c.1699G>T (p.Gly567Cys) c.1525G>T (p.Gly509Cys) c.1747G>T (p.Gly583Cys) | |
4 | g.186288529G>A | CA358946131 | F11,F11-AS1 | c.1793G>A (p.Gly598Asp) c.393G>A c.1631G>A (p.Gly544Asp) n.312G>A n.965C>T c.1796G>A (p.Gly599Asp) c.1700G>A (p.Gly567Asp) c.1526G>A (p.Gly509Asp) c.1748G>A (p.Gly583Asp) | |
4 | g.186288529G>C | CA358946132 | F11,F11-AS1 | c.1793G>C (p.Gly598Ala) c.393G>C c.1631G>C (p.Gly544Ala) n.312G>C n.965C>G c.1796G>C (p.Gly599Ala) c.1700G>C (p.Gly567Ala) c.1526G>C (p.Gly509Ala) c.1748G>C (p.Gly583Ala) | |
4 | g.186288529G>T | CA358946134 | F11,F11-AS1 | c.1793G>T (p.Gly598Val) c.393G>T c.1631G>T (p.Gly544Val) n.312G>T n.965C>A c.1796G>T (p.Gly599Val) c.1700G>T (p.Gly567Val) c.1526G>T (p.Gly509Val) c.1748G>T (p.Gly583Val) | |
4 | g.186288530C>A | CA442641382 | F11,F11-AS1 | c.1794C>A (p.Gly598=) c.394C>A c.1632C>A (p.Gly544=) n.313C>A n.964G>T c.1797C>A (p.Gly599=) c.1701C>A (p.Gly567=) c.1527C>A (p.Gly509=) c.1749C>A (p.Gly583=) | |
4 | g.186288530C= | CA1519939838 | F11,F11-AS1 | c.1794C= (p.Gly598=) c.394C= c.1632C= (p.Gly544=) n.313C= n.964G= c.1797C= (p.Gly599=) c.1701C= (p.Gly567=) c.1527C= (p.Gly509=) c.1749C= (p.Gly583=) | |
4 | g.186288530C>G | CA442641383 | F11,F11-AS1 | c.1794C>G (p.Gly598=) c.394C>G c.1632C>G (p.Gly544=) n.313C>G n.964G>C c.1797C>G (p.Gly599=) c.1701C>G (p.Gly567=) c.1527C>G (p.Gly509=) c.1749C>G (p.Gly583=) | |
4 | g.186288530C>T | CA3164125 | F11,F11-AS1 | c.1794C>T (p.Gly598=) c.394C>T c.1632C>T (p.Gly544=) n.313C>T n.964G>A c.1797C>T (p.Gly599=) c.1701C>T (p.Gly567=) c.1527C>T (p.Gly509=) c.1749C>T (p.Gly583=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288531T>A | CA358946138 | F11,F11-AS1 | c.1795T>A (p.Cys599Ser) c.395T>A c.1633T>A (p.Cys545Ser) n.314T>A n.963A>T c.1798T>A (p.Cys600Ser) c.1702T>A (p.Cys568Ser) c.1528T>A (p.Cys510Ser) c.1750T>A (p.Cys584Ser) | |
4 | g.186288531T>C | CA358946141 | F11,F11-AS1 | c.1795T>C (p.Cys599Arg) c.395T>C c.1633T>C (p.Cys545Arg) n.314T>C n.963A>G c.1798T>C (p.Cys600Arg) c.1702T>C (p.Cys568Arg) c.1528T>C (p.Cys510Arg) c.1750T>C (p.Cys584Arg) | |
4 | g.186288531T>G | CA358946142 | F11,F11-AS1 | c.1795T>G (p.Cys599Gly) c.395T>G c.1633T>G (p.Cys545Gly) n.314T>G n.963A>C c.1798T>G (p.Cys600Gly) c.1702T>G (p.Cys568Gly) c.1528T>G (p.Cys510Gly) c.1750T>G (p.Cys584Gly) | |
4 | g.186288532G>A | CA358946145 | F11,F11-AS1 | c.1796G>A (p.Cys599Tyr) c.396G>A c.1634G>A (p.Cys545Tyr) n.315G>A n.962C>T c.1799G>A (p.Cys600Tyr) c.1703G>A (p.Cys568Tyr) c.1529G>A (p.Cys510Tyr) c.1751G>A (p.Cys584Tyr) | |
4 | g.186288532G>C | CA358946147 | F11,F11-AS1 | c.1796G>C (p.Cys599Ser) c.396G>C c.1634G>C (p.Cys545Ser) n.315G>C n.962C>G c.1799G>C (p.Cys600Ser) c.1703G>C (p.Cys568Ser) c.1529G>C (p.Cys510Ser) c.1751G>C (p.Cys584Ser) | |
4 | g.186288532G= | CA1519939839 | F11,F11-AS1 | c.1796G= (p.Cys599=) c.396G= c.1634G= (p.Cys545=) n.315G= n.962C= c.1799G= (p.Cys600=) c.1703G= (p.Cys568=) c.1529G= (p.Cys510=) c.1751G= (p.Cys584=) | |
4 | g.186288532G>T | CA358946149 | F11,F11-AS1 | c.1796G>T (p.Cys599Phe) c.396G>T c.1634G>T (p.Cys545Phe) n.315G>T n.962C>A c.1799G>T (p.Cys600Phe) c.1703G>T (p.Cys568Phe) c.1529G>T (p.Cys510Phe) c.1751G>T (p.Cys584Phe) | dbSNP |
4 | g.186288533T>A | CA358946152 | F11,F11-AS1 | c.1797T>A (p.Cys599Ter) c.397T>A c.1635T>A (p.Cys545Ter) n.316T>A n.961A>T c.1800T>A (p.Cys600Ter) c.1704T>A (p.Cys568Ter) c.1530T>A (p.Cys510Ter) c.1752T>A (p.Cys584Ter) | |
4 | g.186288533T>C | CA442641384 | F11,F11-AS1 | c.1797T>C (p.Cys599=) c.397T>C c.1635T>C (p.Cys545=) n.316T>C n.961A>G c.1800T>C (p.Cys600=) c.1704T>C (p.Cys568=) c.1530T>C (p.Cys510=) c.1752T>C (p.Cys584=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288533T>G | CA358946153 | F11,F11-AS1 | c.1797T>G (p.Cys599Trp) c.397T>G c.1635T>G (p.Cys545Trp) n.316T>G n.961A>C c.1800T>G (p.Cys600Trp) c.1704T>G (p.Cys568Trp) c.1530T>G (p.Cys510Trp) c.1752T>G (p.Cys584Trp) | |
4 | g.186288533T= | CA1519939840 | F11,F11-AS1 | c.1797T= (p.Cys599=) c.397T= c.1635T= (p.Cys545=) n.316T= n.961A= c.1800T= (p.Cys600=) c.1704T= (p.Cys568=) c.1530T= (p.Cys510=) c.1752T= (p.Cys584=) | |
4 | g.186288534G>A | CA3164126 | F11,F11-AS1 | c.1798G>A (p.Ala600Thr) c.398G>A c.1636G>A (p.Ala546Thr) n.317G>A n.960C>T c.1801G>A (p.Ala601Thr) c.1705G>A (p.Ala569Thr) c.1531G>A (p.Ala511Thr) c.1753G>A (p.Ala585Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288534G>C | CA358946158 | F11,F11-AS1 | c.1798G>C (p.Ala600Pro) c.398G>C c.1636G>C (p.Ala546Pro) n.317G>C n.960C>G c.1801G>C (p.Ala601Pro) c.1705G>C (p.Ala569Pro) c.1531G>C (p.Ala511Pro) c.1753G>C (p.Ala585Pro) | |
4 | g.186288534G= | CA1519939841 | F11,F11-AS1 | c.1798G= (p.Ala600=) c.398G= c.1636G= (p.Ala546=) n.317G= n.960C= c.1801G= (p.Ala601=) c.1705G= (p.Ala569=) c.1531G= (p.Ala511=) c.1753G= (p.Ala585=) | |
4 | g.186288534G>T | CA358946157 | F11,F11-AS1 | c.1798G>T (p.Ala600Ser) c.398G>T c.1636G>T (p.Ala546Ser) n.317G>T n.960C>A c.1801G>T (p.Ala601Ser) c.1705G>T (p.Ala569Ser) c.1531G>T (p.Ala511Ser) c.1753G>T (p.Ala585Ser) | |
4 | g.186288535C>A | CA358946161 | F11,F11-AS1 | c.1799C>A (p.Ala600Asp) c.399C>A c.1637C>A (p.Ala546Asp) n.318C>A n.959G>T c.1802C>A (p.Ala601Asp) c.1706C>A (p.Ala569Asp) c.1532C>A (p.Ala511Asp) c.1754C>A (p.Ala585Asp) | |
4 | g.186288535C>G | CA358946163 | F11,F11-AS1 | c.1799C>G (p.Ala600Gly) c.399C>G c.1637C>G (p.Ala546Gly) n.318C>G n.959G>C c.1802C>G (p.Ala601Gly) c.1706C>G (p.Ala569Gly) c.1532C>G (p.Ala511Gly) c.1754C>G (p.Ala585Gly) | |
4 | g.186288535C>T | CA358946169 | F11,F11-AS1 | c.1799C>T (p.Ala600Val) c.399C>T c.1637C>T (p.Ala546Val) n.318C>T n.959G>A c.1802C>T (p.Ala601Val) c.1706C>T (p.Ala569Val) c.1532C>T (p.Ala511Val) c.1754C>T (p.Ala585Val) | |
4 | g.186288536T>A | CA442641385 | F11,F11-AS1 | c.1800T>A (p.Ala600=) c.400T>A c.1638T>A (p.Ala546=) n.319T>A n.958A>T c.1803T>A (p.Ala601=) c.1707T>A (p.Ala569=) c.1533T>A (p.Ala511=) c.1755T>A (p.Ala585=) | |
4 | g.186288536T>C | CA442641386 | F11,F11-AS1 | c.1800T>C (p.Ala600=) c.400T>C c.1638T>C (p.Ala546=) n.319T>C n.958A>G c.1803T>C (p.Ala601=) c.1707T>C (p.Ala569=) c.1533T>C (p.Ala511=) c.1755T>C (p.Ala585=) | |
4 | g.186288536T>G | CA442641387 | F11,F11-AS1 | c.1800T>G (p.Ala600=) c.400T>G c.1638T>G (p.Ala546=) n.319T>G n.958A>C c.1803T>G (p.Ala601=) c.1707T>G (p.Ala569=) c.1533T>G (p.Ala511=) c.1755T>G (p.Ala585=) | |
4 | g.186288537C>A | CA358946170 | F11,F11-AS1 | c.1801C>A (p.Gln601Lys) c.401C>A c.1639C>A (p.Gln547Lys) n.320C>A n.957G>T c.1804C>A (p.Gln602Lys) c.1708C>A (p.Gln570Lys) c.1534C>A (p.Gln512Lys) c.1756C>A (p.Gln586Lys) | |
4 | g.186288537C>G | CA358946172 | F11,F11-AS1 | c.1801C>G (p.Gln601Glu) c.401C>G c.1639C>G (p.Gln547Glu) n.320C>G n.957G>C c.1804C>G (p.Gln602Glu) c.1708C>G (p.Gln570Glu) c.1534C>G (p.Gln512Glu) c.1756C>G (p.Gln586Glu) | |
4 | g.186288537C>T | CA358946174 | F11,F11-AS1 | c.1801C>T (p.Gln601Ter) c.401C>T c.1639C>T (p.Gln547Ter) n.320C>T n.957G>A c.1804C>T (p.Gln602Ter) c.1708C>T (p.Gln570Ter) c.1534C>T (p.Gln512Ter) c.1756C>T (p.Gln586Ter) | |
4 | g.186288538A>C | CA358946176 | F11,F11-AS1 | c.1802A>C (p.Gln601Pro) c.402A>C c.1640A>C (p.Gln547Pro) n.321A>C n.956T>G c.1805A>C (p.Gln602Pro) c.1709A>C (p.Gln570Pro) c.1535A>C (p.Gln512Pro) c.1757A>C (p.Gln586Pro) | |
4 | g.186288538A>G | CA358946178 | F11,F11-AS1 | c.1802A>G (p.Gln601Arg) c.402A>G c.1640A>G (p.Gln547Arg) n.321A>G n.956T>C c.1805A>G (p.Gln602Arg) c.1709A>G (p.Gln570Arg) c.1535A>G (p.Gln512Arg) c.1757A>G (p.Gln586Arg) | |
4 | g.186288538A>T | CA358946180 | F11,F11-AS1 | c.1802A>T (p.Gln601Leu) c.402A>T c.1640A>T (p.Gln547Leu) n.321A>T n.956T>A c.1805A>T (p.Gln602Leu) c.1709A>T (p.Gln570Leu) c.1535A>T (p.Gln512Leu) c.1757A>T (p.Gln586Leu) | |
4 | g.186288539A>C | CA358946182 | F11,F11-AS1 | c.1803A>C (p.Gln601His) c.403A>C c.1641A>C (p.Gln547His) n.322A>C n.955T>G c.1806A>C (p.Gln602His) c.1710A>C (p.Gln570His) c.1536A>C (p.Gln512His) c.1758A>C (p.Gln586His) | |
4 | g.186288539A>G | CA442641388 | F11,F11-AS1 | c.1803A>G (p.Gln601=) c.403A>G c.1641A>G (p.Gln547=) n.322A>G n.955T>C c.1806A>G (p.Gln602=) c.1710A>G (p.Gln570=) c.1536A>G (p.Gln512=) c.1758A>G (p.Gln586=) | |
4 | g.186288539A>T | CA358946183 | F11,F11-AS1 | c.1803A>T (p.Gln601His) c.403A>T c.1641A>T (p.Gln547His) n.322A>T n.955T>A c.1806A>T (p.Gln602His) c.1710A>T (p.Gln570His) c.1536A>T (p.Gln512His) c.1758A>T (p.Gln586His) | |
4 | g.186288540A>C | CA442641389 | F11,F11-AS1 | c.1804A>C (p.Arg602=) c.404A>C c.1642A>C (p.Arg548=) n.323A>C n.954T>G c.1807A>C (p.Arg603=) c.1711A>C (p.Arg571=) c.1537A>C (p.Arg513=) c.1759A>C (p.Arg587=) | |
4 | g.186288540A>G | CA358946185 | F11,F11-AS1 | c.1804A>G (p.Arg602Gly) c.404A>G c.1642A>G (p.Arg548Gly) n.323A>G n.954T>C c.1807A>G (p.Arg603Gly) c.1711A>G (p.Arg571Gly) c.1537A>G (p.Arg513Gly) c.1759A>G (p.Arg587Gly) | |
4 | g.186288540A>T | CA358946187 | F11,F11-AS1 | c.1804A>T (p.Arg602Trp) c.404A>T c.1642A>T (p.Arg548Trp) n.323A>T n.954T>A c.1807A>T (p.Arg603Trp) c.1711A>T (p.Arg571Trp) c.1537A>T (p.Arg513Trp) c.1759A>T (p.Arg587Trp) | |
4 | g.186288541G>A | CA358946189 | F11,F11-AS1 | c.1805G>A (p.Arg602Lys) c.405G>A c.1643G>A (p.Arg548Lys) n.324G>A n.953C>T c.1808G>A (p.Arg603Lys) c.1712G>A (p.Arg571Lys) c.1538G>A (p.Arg513Lys) c.1760G>A (p.Arg587Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288541G>C | CA358946193 | F11,F11-AS1 | c.1805G>C (p.Arg602Thr) c.405G>C c.1643G>C (p.Arg548Thr) n.324G>C n.953C>G c.1808G>C (p.Arg603Thr) c.1712G>C (p.Arg571Thr) c.1538G>C (p.Arg513Thr) c.1760G>C (p.Arg587Thr) | gnomAD v4 |
4 | g.186288541G= | CA1519939842 | F11,F11-AS1 | c.1805G= (p.Arg602=) c.405G= c.1643G= (p.Arg548=) n.324G= n.953C= c.1808G= (p.Arg603=) c.1712G= (p.Arg571=) c.1538G= (p.Arg513=) c.1760G= (p.Arg587=) | |
4 | g.186288541G>T | CA358946191 | F11,F11-AS1 | c.1805G>T (p.Arg602Met) c.405G>T c.1643G>T (p.Arg548Met) n.324G>T n.953C>A c.1808G>T (p.Arg603Met) c.1712G>T (p.Arg571Met) c.1538G>T (p.Arg513Met) c.1760G>T (p.Arg587Met) | |
4 | g.186288542G>A | CA3164127 | F11,F11-AS1 | c.1806G>A (p.Arg602=) c.406G>A c.1644G>A (p.Arg548=) n.325G>A n.952C>T c.1809G>A (p.Arg603=) c.1713G>A (p.Arg571=) c.1539G>A (p.Arg513=) c.1761G>A (p.Arg587=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288542G>C | CA358946196 | F11,F11-AS1 | c.1806G>C (p.Arg602Ser) c.406G>C c.1644G>C (p.Arg548Ser) n.325G>C n.952C>G c.1809G>C (p.Arg603Ser) c.1713G>C (p.Arg571Ser) c.1539G>C (p.Arg513Ser) c.1761G>C (p.Arg587Ser) | |
4 | g.186288542G= | CA1519939843 | F11,F11-AS1 | c.1806G= (p.Arg602=) c.406G= c.1644G= (p.Arg548=) n.325G= n.952C= c.1809G= (p.Arg603=) c.1713G= (p.Arg571=) c.1539G= (p.Arg513=) c.1761G= (p.Arg587=) | |
4 | g.186288542G>T | CA358946197 | F11,F11-AS1 | c.1806G>T (p.Arg602Ser) c.406G>T c.1644G>T (p.Arg548Ser) n.325G>T n.952C>A c.1809G>T (p.Arg603Ser) c.1713G>T (p.Arg571Ser) c.1539G>T (p.Arg513Ser) c.1761G>T (p.Arg587Ser) | |
4 | g.186288543G>A | CA112106270 | F11,F11-AS1 | c.1807G>A (p.Glu603Lys) c.407G>A c.1645G>A (p.Glu549Lys) n.326G>A n.951C>T c.1810G>A (p.Glu604Lys) c.1714G>A (p.Glu572Lys) c.1540G>A (p.Glu514Lys) c.1762G>A (p.Glu588Lys) | dbSNP |
4 | g.186288543G>C | CA358946200 | F11,F11-AS1 | c.1807G>C (p.Glu603Gln) c.407G>C c.1645G>C (p.Glu549Gln) n.326G>C n.951C>G c.1810G>C (p.Glu604Gln) c.1714G>C (p.Glu572Gln) c.1540G>C (p.Glu514Gln) c.1762G>C (p.Glu588Gln) | |
4 | g.186288543G= | CA1519939844 | F11,F11-AS1 | c.1807G= (p.Glu603=) c.407G= c.1645G= (p.Glu549=) n.326G= n.951C= c.1810G= (p.Glu604=) c.1714G= (p.Glu572=) c.1540G= (p.Glu514=) c.1762G= (p.Glu588=) | |
4 | g.186288543G>T | CA358946201 | F11,F11-AS1 | c.1807G>T (p.Glu603Ter) c.407G>T c.1645G>T (p.Glu549Ter) n.326G>T n.951C>A c.1810G>T (p.Glu604Ter) c.1714G>T (p.Glu572Ter) c.1540G>T (p.Glu514Ter) c.1762G>T (p.Glu588Ter) | |
4 | g.186288544A>C | CA358946202 | F11,F11-AS1 | c.1808A>C (p.Glu603Ala) c.408A>C c.1646A>C (p.Glu549Ala) n.327A>C n.950T>G c.1811A>C (p.Glu604Ala) c.1715A>C (p.Glu572Ala) c.1541A>C (p.Glu514Ala) c.1763A>C (p.Glu588Ala) | |
4 | g.186288544A>G | CA358946203 | F11,F11-AS1 | c.1808A>G (p.Glu603Gly) c.408A>G c.1646A>G (p.Glu549Gly) n.327A>G n.950T>C c.1811A>G (p.Glu604Gly) c.1715A>G (p.Glu572Gly) c.1541A>G (p.Glu514Gly) c.1763A>G (p.Glu588Gly) | |
4 | g.186288544A>T | CA358946204 | F11,F11-AS1 | c.1808A>T (p.Glu603Val) c.408A>T c.1646A>T (p.Glu549Val) n.327A>T n.950T>A c.1811A>T (p.Glu604Val) c.1715A>T (p.Glu572Val) c.1541A>T (p.Glu514Val) c.1763A>T (p.Glu588Val) | |
4 | g.186288545G>A | CA442641390 | F11,F11-AS1 | c.1809G>A (p.Glu603=) c.409G>A c.1647G>A (p.Glu549=) n.328G>A n.949C>T c.1812G>A (p.Glu604=) c.1716G>A (p.Glu572=) c.1542G>A (p.Glu514=) c.1764G>A (p.Glu588=) | |
4 | g.186288545G>C | CA358946205 | F11,F11-AS1 | c.1809G>C (p.Glu603Asp) c.409G>C c.1647G>C (p.Glu549Asp) n.328G>C n.949C>G c.1812G>C (p.Glu604Asp) c.1716G>C (p.Glu572Asp) c.1542G>C (p.Glu514Asp) c.1764G>C (p.Glu588Asp) | |
4 | g.186288545G>T | CA358946206 | F11,F11-AS1 | c.1809G>T (p.Glu603Asp) c.409G>T c.1647G>T (p.Glu549Asp) n.328G>T n.949C>A c.1812G>T (p.Glu604Asp) c.1716G>T (p.Glu572Asp) c.1542G>T (p.Glu514Asp) c.1764G>T (p.Glu588Asp) | |
4 | g.186288546C>A | CA3164128 | F11,F11-AS1 | c.1810C>A (p.Arg604=) c.410C>A c.1648C>A (p.Arg550=) n.329C>A n.948G>T c.1813C>A (p.Arg605=) c.1717C>A (p.Arg573=) c.1543C>A (p.Arg515=) c.1765C>A (p.Arg589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288546C= | CA1519939845 | F11,F11-AS1 | c.1810C= (p.Arg604=) c.410C= c.1648C= (p.Arg550=) n.329C= n.948G= c.1813C= (p.Arg605=) c.1717C= (p.Arg573=) c.1543C= (p.Arg515=) c.1765C= (p.Arg589=) | |
4 | g.186288546C>G | CA358946207 | F11,F11-AS1 | c.1810C>G (p.Arg604Gly) c.410C>G c.1648C>G (p.Arg550Gly) n.329C>G n.948G>C c.1813C>G (p.Arg605Gly) c.1717C>G (p.Arg573Gly) c.1543C>G (p.Arg515Gly) c.1765C>G (p.Arg589Gly) | |
4 | g.186288546C>T | CA3164129 | F11,F11-AS1 | c.1810C>T (p.Arg604Trp) c.410C>T c.1648C>T (p.Arg550Trp) n.329C>T n.948G>A c.1813C>T (p.Arg605Trp) c.1717C>T (p.Arg573Trp) c.1543C>T (p.Arg515Trp) c.1765C>T (p.Arg589Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.186288547G>A | CA358946209 | F11,F11-AS1 | c.1811G>A (p.Arg604Gln) c.411G>A c.1649G>A (p.Arg550Gln) n.330G>A n.947C>T c.1814G>A (p.Arg605Gln) c.1718G>A (p.Arg573Gln) c.1544G>A (p.Arg515Gln) c.1766G>A (p.Arg589Gln) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288547G>C | CA358946208 | F11,F11-AS1 | c.1811G>C (p.Arg604Pro) c.411G>C c.1649G>C (p.Arg550Pro) n.330G>C n.947C>G c.1814G>C (p.Arg605Pro) c.1718G>C (p.Arg573Pro) c.1544G>C (p.Arg515Pro) c.1766G>C (p.Arg589Pro) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288547G= | CA1519939846 | F11,F11-AS1 | c.1811G= (p.Arg604=) c.411G= c.1649G= (p.Arg550=) n.330G= n.947C= c.1814G= (p.Arg605=) c.1718G= (p.Arg573=) c.1544G= (p.Arg515=) c.1766G= (p.Arg589=) | |
4 | g.186288547G>T | CA358946210 | F11,F11-AS1 | c.1811G>T (p.Arg604Leu) c.411G>T c.1649G>T (p.Arg550Leu) n.330G>T n.947C>A c.1814G>T (p.Arg605Leu) c.1718G>T (p.Arg573Leu) c.1544G>T (p.Arg515Leu) c.1766G>T (p.Arg589Leu) | |
4 | g.186288547_186288548insT | CA3164130 | F11,F11-AS1 | c.1811_1812insT (p.Pro605AlafsTer?) c.411_412insT c.1649_1650insT (p.Pro551AlafsTer?) n.330_331insT n.946_947insA c.1814_1815insT (p.Pro606AlafsTer?) c.1718_1719insT (p.Pro574AlafsTer?) c.1544_1545insT (p.Pro516AlafsTer?) c.1766_1767insT (p.Pro590AlafsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288548G>A | CA442641391 | F11,F11-AS1 | c.1812G>A (p.Arg604=) c.412G>A c.1650G>A (p.Arg550=) n.331G>A n.946C>T c.1815G>A (p.Arg605=) c.1719G>A (p.Arg573=) c.1545G>A (p.Arg515=) c.1767G>A (p.Arg589=) | |
4 | g.186288548G>C | CA442641392 | F11,F11-AS1 | c.1812G>C (p.Arg604=) c.412G>C c.1650G>C (p.Arg550=) n.331G>C n.946C>G c.1815G>C (p.Arg605=) c.1719G>C (p.Arg573=) c.1545G>C (p.Arg515=) c.1767G>C (p.Arg589=) | ClinVar dbSNP |
4 | g.186288548G= | CA1519939847 | F11,F11-AS1 | c.1812G= (p.Arg604=) c.412G= c.1650G= (p.Arg550=) n.331G= n.946C= c.1815G= (p.Arg605=) c.1719G= (p.Arg573=) c.1545G= (p.Arg515=) c.1767G= (p.Arg589=) | |
4 | g.186288548G>T | CA3164131 | F11,F11-AS1 | c.1812G>T (p.Arg604=) c.412G>T c.1650G>T (p.Arg550=) n.331G>T n.946C>A c.1815G>T (p.Arg605=) c.1719G>T (p.Arg573=) c.1545G>T (p.Arg515=) c.1767G>T (p.Arg589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288549C>A | CA358946211 | F11,F11-AS1 | c.1813C>A (p.Pro605Thr) c.413C>A c.1651C>A (p.Pro551Thr) n.332C>A n.945G>T c.1816C>A (p.Pro606Thr) c.1720C>A (p.Pro574Thr) c.1546C>A (p.Pro516Thr) c.1768C>A (p.Pro590Thr) | |
4 | g.186288549C= | CA1519939848 | F11,F11-AS1 | c.1813C= (p.Pro605=) c.413C= c.1651C= (p.Pro551=) n.332C= n.945G= c.1816C= (p.Pro606=) c.1720C= (p.Pro574=) c.1546C= (p.Pro516=) c.1768C= (p.Pro590=) | |
4 | g.186288549C>G | CA358946212 | F11,F11-AS1 | c.1813C>G (p.Pro605Ala) c.413C>G c.1651C>G (p.Pro551Ala) n.332C>G n.945G>C c.1816C>G (p.Pro606Ala) c.1720C>G (p.Pro574Ala) c.1546C>G (p.Pro516Ala) c.1768C>G (p.Pro590Ala) | |
4 | g.186288549C>T | CA3164132 | F11,F11-AS1 | c.1813C>T (p.Pro605Ser) c.413C>T c.1651C>T (p.Pro551Ser) n.332C>T n.945G>A c.1816C>T (p.Pro606Ser) c.1720C>T (p.Pro574Ser) c.1546C>T (p.Pro516Ser) c.1768C>T (p.Pro590Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288550C>A | CA358946213 | F11,F11-AS1 | c.1814C>A (p.Pro605Gln) c.414C>A c.1652C>A (p.Pro551Gln) n.333C>A n.944G>T c.1817C>A (p.Pro606Gln) c.1721C>A (p.Pro574Gln) c.1547C>A (p.Pro516Gln) c.1769C>A (p.Pro590Gln) | gnomAD v4 |
4 | g.186288550C>G | CA358946214 | F11,F11-AS1 | c.1814C>G (p.Pro605Arg) c.414C>G c.1652C>G (p.Pro551Arg) n.333C>G n.944G>C c.1817C>G (p.Pro606Arg) c.1721C>G (p.Pro574Arg) c.1547C>G (p.Pro516Arg) c.1769C>G (p.Pro590Arg) | |
4 | g.186288550C>T | CA358946215 | F11,F11-AS1 | c.1814C>T (p.Pro605Leu) c.414C>T c.1652C>T (p.Pro551Leu) n.333C>T n.944G>A c.1817C>T (p.Pro606Leu) c.1721C>T (p.Pro574Leu) c.1547C>T (p.Pro516Leu) c.1769C>T (p.Pro590Leu) | |
4 | g.186288551A= | CA1519939849 | F11,F11-AS1 | c.1815A= (p.Pro605=) c.415A= c.1653A= (p.Pro551=) n.334A= n.943T= c.1818A= (p.Pro606=) c.1722A= (p.Pro574=) c.1548A= (p.Pro516=) c.1770A= (p.Pro590=) | |
4 | g.186288551A>C | CA3164133 | F11,F11-AS1 | c.1815A>C (p.Pro605=) c.415A>C c.1653A>C (p.Pro551=) n.334A>C n.943T>G c.1818A>C (p.Pro606=) c.1722A>C (p.Pro574=) c.1548A>C (p.Pro516=) c.1770A>C (p.Pro590=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288551A>G | CA3164134 | F11,F11-AS1 | c.1815A>G (p.Pro605=) c.415A>G c.1653A>G (p.Pro551=) n.334A>G n.943T>C c.1818A>G (p.Pro606=) c.1722A>G (p.Pro574=) c.1548A>G (p.Pro516=) c.1770A>G (p.Pro590=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288551A>T | CA442641393 | F11,F11-AS1 | c.1815A>T (p.Pro605=) c.415A>T c.1653A>T (p.Pro551=) n.334A>T n.943T>A c.1818A>T (p.Pro606=) c.1722A>T (p.Pro574=) c.1548A>T (p.Pro516=) c.1770A>T (p.Pro590=) | |
4 | g.186288552G>A | CA358946216 | F11,F11-AS1 | c.1816G>A (p.Gly606Ser) c.416G>A c.1654G>A (p.Gly552Ser) n.335G>A n.942C>T c.1819G>A (p.Gly607Ser) c.1723G>A (p.Gly575Ser) c.1549G>A (p.Gly517Ser) c.1771G>A (p.Gly591Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288552G>C | CA358946217 | F11,F11-AS1 | c.1816G>C (p.Gly606Arg) c.416G>C c.1654G>C (p.Gly552Arg) n.335G>C n.942C>G c.1819G>C (p.Gly607Arg) c.1723G>C (p.Gly575Arg) c.1549G>C (p.Gly517Arg) c.1771G>C (p.Gly591Arg) | |
4 | g.186288552G= | CA1519939850 | F11,F11-AS1 | c.1816G= (p.Gly606=) c.416G= c.1654G= (p.Gly552=) n.335G= n.942C= c.1819G= (p.Gly607=) c.1723G= (p.Gly575=) c.1549G= (p.Gly517=) c.1771G= (p.Gly591=) | |
4 | g.186288552G>T | CA358946218 | F11,F11-AS1 | c.1816G>T (p.Gly606Cys) c.416G>T c.1654G>T (p.Gly552Cys) n.335G>T n.942C>A c.1819G>T (p.Gly607Cys) c.1723G>T (p.Gly575Cys) c.1549G>T (p.Gly517Cys) c.1771G>T (p.Gly591Cys) |