Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
4 | g.186288553G>A | CA358946220 | F11,F11-AS1 | c.1817G>A (p.Gly606Asp) c.417G>A c.1655G>A (p.Gly552Asp) n.336G>A n.941C>T c.1820G>A (p.Gly607Asp) c.1724G>A (p.Gly575Asp) c.1550G>A (p.Gly517Asp) c.1772G>A (p.Gly591Asp) | |
4 | g.186288553G>C | CA3164135 | F11,F11-AS1 | c.1817G>C (p.Gly606Ala) c.417G>C c.1655G>C (p.Gly552Ala) n.336G>C n.941C>G c.1820G>C (p.Gly607Ala) c.1724G>C (p.Gly575Ala) c.1550G>C (p.Gly517Ala) c.1772G>C (p.Gly591Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288553G= | CA1519939851 | F11,F11-AS1 | c.1817G= (p.Gly606=) c.417G= c.1655G= (p.Gly552=) n.336G= n.941C= c.1820G= (p.Gly607=) c.1724G= (p.Gly575=) c.1550G= (p.Gly517=) c.1772G= (p.Gly591=) | |
4 | g.186288553G>T | CA358946219 | F11,F11-AS1 | c.1817G>T (p.Gly606Val) c.417G>T c.1655G>T (p.Gly552Val) n.336G>T n.941C>A c.1820G>T (p.Gly607Val) c.1724G>T (p.Gly575Val) c.1550G>T (p.Gly517Val) c.1772G>T (p.Gly591Val) | COSMIC |
4 | g.186288554T>A | CA442641394 | F11,F11-AS1 | c.1818T>A (p.Gly606=) c.418T>A c.1656T>A (p.Gly552=) n.337T>A n.940A>T c.1821T>A (p.Gly607=) c.1725T>A (p.Gly575=) c.1551T>A (p.Gly517=) c.1773T>A (p.Gly591=) | |
4 | g.186288554T>C | CA442641395 | F11,F11-AS1 | c.1818T>C (p.Gly606=) c.418T>C c.1656T>C (p.Gly552=) n.337T>C n.940A>G c.1821T>C (p.Gly607=) c.1725T>C (p.Gly575=) c.1551T>C (p.Gly517=) c.1773T>C (p.Gly591=) | |
4 | g.186288554T>G | CA442641396 | F11,F11-AS1 | c.1818T>G (p.Gly606=) c.418T>G c.1656T>G (p.Gly552=) n.337T>G n.940A>C c.1821T>G (p.Gly607=) c.1725T>G (p.Gly575=) c.1551T>G (p.Gly517=) c.1773T>G (p.Gly591=) | |
4 | g.186288555G>A | CA358946221 | F11,F11-AS1 | c.1819G>A (p.Val607Ile) c.419G>A c.1657G>A (p.Val553Ile) n.338G>A n.939C>T c.1822G>A (p.Val608Ile) c.1726G>A (p.Val576Ile) c.1552G>A (p.Val518Ile) c.1774G>A (p.Val592Ile) | |
4 | g.186288555G>C | CA358946222 | F11,F11-AS1 | c.1819G>C (p.Val607Leu) c.419G>C c.1657G>C (p.Val553Leu) n.338G>C n.939C>G c.1822G>C (p.Val608Leu) c.1726G>C (p.Val576Leu) c.1552G>C (p.Val518Leu) c.1774G>C (p.Val592Leu) | |
4 | g.186288555G= | CA1519939852 | F11,F11-AS1 | c.1819G= (p.Val607=) c.419G= c.1657G= (p.Val553=) n.338G= n.939C= c.1822G= (p.Val608=) c.1726G= (p.Val576=) c.1552G= (p.Val518=) c.1774G= (p.Val592=) | |
4 | g.186288555G>T | CA358946223 | F11,F11-AS1 | c.1819G>T (p.Val607Phe) c.419G>T c.1657G>T (p.Val553Phe) n.338G>T n.939C>A c.1822G>T (p.Val608Phe) c.1726G>T (p.Val576Phe) c.1552G>T (p.Val518Phe) c.1774G>T (p.Val592Phe) | |
4 | g.186288556T>A | CA358946224 | F11,F11-AS1 | c.1820T>A (p.Val607Asp) c.420T>A c.1658T>A (p.Val553Asp) n.339T>A n.938A>T c.1823T>A (p.Val608Asp) c.1727T>A (p.Val576Asp) c.1553T>A (p.Val518Asp) c.1775T>A (p.Val592Asp) | |
4 | g.186288556T>C | CA358946225 | F11,F11-AS1 | c.1820T>C (p.Val607Ala) c.420T>C c.1658T>C (p.Val553Ala) n.339T>C n.938A>G c.1823T>C (p.Val608Ala) c.1727T>C (p.Val576Ala) c.1553T>C (p.Val518Ala) c.1775T>C (p.Val592Ala) | gnomAD v4 |
4 | g.186288556T>G | CA358946226 | F11,F11-AS1 | c.1820T>G (p.Val607Gly) c.420T>G c.1658T>G (p.Val553Gly) n.339T>G n.938A>C c.1823T>G (p.Val608Gly) c.1727T>G (p.Val576Gly) c.1553T>G (p.Val518Gly) c.1775T>G (p.Val592Gly) | |
4 | g.186288559_186288560insATTTA | CA1519939853 | F11,F11-AS1 | c.1823_1824insATTTA (p.Tyr608Ter) c.423_424insATTTA c.1661_1662insATTTA (p.Tyr554Ter) n.342_343insATTTA n.938_939insTTAAA c.1826_1827insATTTA (p.Tyr609Ter) c.1730_1731insATTTA (p.Tyr577Ter) c.1556_1557insATTTA (p.Tyr519Ter) c.1778_1779insATTTA (p.Tyr593Ter) | dbSNP |
4 | g.186288557T>A | CA442641397 | F11,F11-AS1 | c.1821T>A (p.Val607=) c.421T>A c.1659T>A (p.Val553=) n.340T>A n.937A>T c.1824T>A (p.Val608=) c.1728T>A (p.Val576=) c.1554T>A (p.Val518=) c.1776T>A (p.Val592=) | |
4 | g.186288557T>C | CA442641398 | F11,F11-AS1 | c.1821T>C (p.Val607=) c.421T>C c.1659T>C (p.Val553=) n.340T>C n.937A>G c.1824T>C (p.Val608=) c.1728T>C (p.Val576=) c.1554T>C (p.Val518=) c.1776T>C (p.Val592=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288557T>G | CA442641399 | F11,F11-AS1 | c.1821T>G (p.Val607=) c.421T>G c.1659T>G (p.Val553=) n.340T>G n.937A>C c.1824T>G (p.Val608=) c.1728T>G (p.Val576=) c.1554T>G (p.Val518=) c.1776T>G (p.Val592=) | |
4 | g.186288557T= | CA1519939854 | F11,F11-AS1 | c.1821T= (p.Val607=) c.421T= c.1659T= (p.Val553=) n.340T= n.937A= c.1824T= (p.Val608=) c.1728T= (p.Val576=) c.1554T= (p.Val518=) c.1776T= (p.Val592=) | |
4 | g.186288558T>A | CA358946227 | F11,F11-AS1 | c.1822T>A (p.Tyr608Asn) c.422T>A c.1660T>A (p.Tyr554Asn) n.341T>A n.936A>T c.1825T>A (p.Tyr609Asn) c.1729T>A (p.Tyr577Asn) c.1555T>A (p.Tyr519Asn) c.1777T>A (p.Tyr593Asn) | |
4 | g.186288558T>C | CA219132 | F11,F11-AS1 | c.1822T>C (p.Tyr608His) c.422T>C c.1660T>C (p.Tyr554His) n.341T>C n.936A>G c.1825T>C (p.Tyr609His) c.1729T>C (p.Tyr577His) c.1555T>C (p.Tyr519His) c.1777T>C (p.Tyr593His) | ClinVar dbSNP COSMIC |
4 | g.186288558T>G | CA358946228 | F11,F11-AS1 | c.1822T>G (p.Tyr608Asp) c.422T>G c.1660T>G (p.Tyr554Asp) n.341T>G n.936A>C c.1825T>G (p.Tyr609Asp) c.1729T>G (p.Tyr577Asp) c.1555T>G (p.Tyr519Asp) c.1777T>G (p.Tyr593Asp) | |
4 | g.186288558T= | CA1519939855 | F11,F11-AS1 | c.1822T= (p.Tyr608=) c.422T= c.1660T= (p.Tyr554=) n.341T= n.936A= c.1825T= (p.Tyr609=) c.1729T= (p.Tyr577=) c.1555T= (p.Tyr519=) c.1777T= (p.Tyr593=) | |
4 | g.186288559A>C | CA358946229 | F11,F11-AS1 | c.1823A>C (p.Tyr608Ser) c.423A>C c.1661A>C (p.Tyr554Ser) n.342A>C n.935T>G c.1826A>C (p.Tyr609Ser) c.1730A>C (p.Tyr577Ser) c.1556A>C (p.Tyr519Ser) c.1778A>C (p.Tyr593Ser) | |
4 | g.186288559A>G | CA358946230 | F11,F11-AS1 | c.1823A>G (p.Tyr608Cys) c.423A>G c.1661A>G (p.Tyr554Cys) n.342A>G n.935T>C c.1826A>G (p.Tyr609Cys) c.1730A>G (p.Tyr577Cys) c.1556A>G (p.Tyr519Cys) c.1778A>G (p.Tyr593Cys) | |
4 | g.186288559A>T | CA358946231 | F11,F11-AS1 | c.1823A>T (p.Tyr608Phe) c.423A>T c.1661A>T (p.Tyr554Phe) n.342A>T n.935T>A c.1826A>T (p.Tyr609Phe) c.1730A>T (p.Tyr577Phe) c.1556A>T (p.Tyr519Phe) c.1778A>T (p.Tyr593Phe) | |
4 | g.186288560C>A | CA358946232 | F11,F11-AS1 | c.1824C>A (p.Tyr608Ter) c.424C>A c.1662C>A (p.Tyr554Ter) n.343C>A n.934G>T c.1827C>A (p.Tyr609Ter) c.1731C>A (p.Tyr577Ter) c.1557C>A (p.Tyr519Ter) c.1779C>A (p.Tyr593Ter) | dbSNP gnomAD v4 |
4 | g.186288560C= | CA1519939856 | F11,F11-AS1 | c.1824C= (p.Tyr608=) c.424C= c.1662C= (p.Tyr554=) n.343C= n.934G= c.1827C= (p.Tyr609=) c.1731C= (p.Tyr577=) c.1557C= (p.Tyr519=) c.1779C= (p.Tyr593=) | |
4 | g.186288560C>G | CA3164136 | F11,F11-AS1 | c.1824C>G (p.Tyr608Ter) c.424C>G c.1662C>G (p.Tyr554Ter) n.343C>G n.934G>C c.1827C>G (p.Tyr609Ter) c.1731C>G (p.Tyr577Ter) c.1557C>G (p.Tyr519Ter) c.1779C>G (p.Tyr593Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288560C>T | CA442641400 | F11,F11-AS1 | c.1824C>T (p.Tyr608=) c.424C>T c.1662C>T (p.Tyr554=) n.343C>T n.934G>A c.1827C>T (p.Tyr609=) c.1731C>T (p.Tyr577=) c.1557C>T (p.Tyr519=) c.1779C>T (p.Tyr593=) | |
4 | g.186288561A>C | CA358946233 | F11,F11-AS1 | c.1825A>C (p.Thr609Pro) c.425A>C c.1663A>C (p.Thr555Pro) n.344A>C n.933T>G c.1828A>C (p.Thr610Pro) c.1732A>C (p.Thr578Pro) c.1558A>C (p.Thr520Pro) c.1780A>C (p.Thr594Pro) | |
4 | g.186288561A>G | CA358946234 | F11,F11-AS1 | c.1825A>G (p.Thr609Ala) c.425A>G c.1663A>G (p.Thr555Ala) n.344A>G n.933T>C c.1828A>G (p.Thr610Ala) c.1732A>G (p.Thr578Ala) c.1558A>G (p.Thr520Ala) c.1780A>G (p.Thr594Ala) | gnomAD v4 |
4 | g.186288561A>T | CA358946235 | F11,F11-AS1 | c.1825A>T (p.Thr609Ser) c.425A>T c.1663A>T (p.Thr555Ser) n.344A>T n.933T>A c.1828A>T (p.Thr610Ser) c.1732A>T (p.Thr578Ser) c.1558A>T (p.Thr520Ser) c.1780A>T (p.Thr594Ser) | |
4 | g.186288562C>A | CA358946236 | F11,F11-AS1 | c.1826C>A (p.Thr609Asn) c.426C>A c.1664C>A (p.Thr555Asn) n.345C>A n.932G>T c.1829C>A (p.Thr610Asn) c.1733C>A (p.Thr578Asn) c.1559C>A (p.Thr520Asn) c.1781C>A (p.Thr594Asn) | |
4 | g.186288562C= | CA1519939857 | F11,F11-AS1 | c.1826C= (p.Thr609=) c.426C= c.1664C= (p.Thr555=) n.345C= n.932G= c.1829C= (p.Thr610=) c.1733C= (p.Thr578=) c.1559C= (p.Thr520=) c.1781C= (p.Thr594=) | |
4 | g.186288562C>G | CA358946237 | F11,F11-AS1 | c.1826C>G (p.Thr609Ser) c.426C>G c.1664C>G (p.Thr555Ser) n.345C>G n.932G>C c.1829C>G (p.Thr610Ser) c.1733C>G (p.Thr578Ser) c.1559C>G (p.Thr520Ser) c.1781C>G (p.Thr594Ser) | |
4 | g.186288562C>T | CA358946238 | F11,F11-AS1 | c.1826C>T (p.Thr609Ile) c.426C>T c.1664C>T (p.Thr555Ile) n.345C>T n.932G>A c.1829C>T (p.Thr610Ile) c.1733C>T (p.Thr578Ile) c.1559C>T (p.Thr520Ile) c.1781C>T (p.Thr594Ile) | dbSNP gnomAD v4 COSMIC COSMIC |
4 | g.186288563C>A | CA442641402 | F11,F11-AS1 | c.1827C>A (p.Thr609=) c.427C>A c.1665C>A (p.Thr555=) n.346C>A n.931G>T c.1830C>A (p.Thr610=) c.1734C>A (p.Thr578=) c.1560C>A (p.Thr520=) c.1782C>A (p.Thr594=) | |
4 | g.186288563C>G | CA442641403 | F11,F11-AS1 | c.1827C>G (p.Thr609=) c.427C>G c.1665C>G (p.Thr555=) n.346C>G n.931G>C c.1830C>G (p.Thr610=) c.1734C>G (p.Thr578=) c.1560C>G (p.Thr520=) c.1782C>G (p.Thr594=) | |
4 | g.186288563C>T | CA442641404 | F11,F11-AS1 | c.1827C>T (p.Thr609=) c.427C>T c.1665C>T (p.Thr555=) n.346C>T n.931G>A c.1830C>T (p.Thr610=) c.1734C>T (p.Thr578=) c.1560C>T (p.Thr520=) c.1782C>T (p.Thr594=) | |
4 | g.186288564A>C | CA358946239 | F11,F11-AS1 | c.1828A>C (p.Asn610His) c.428A>C c.1666A>C (p.Asn556His) n.347A>C n.930T>G c.1831A>C (p.Asn611His) c.1735A>C (p.Asn579His) c.1561A>C (p.Asn521His) c.1783A>C (p.Asn595His) | |
4 | g.186288564A>G | CA358946240 | F11,F11-AS1 | c.1828A>G (p.Asn610Asp) c.428A>G c.1666A>G (p.Asn556Asp) n.347A>G n.930T>C c.1831A>G (p.Asn611Asp) c.1735A>G (p.Asn579Asp) c.1561A>G (p.Asn521Asp) c.1783A>G (p.Asn595Asp) | |
4 | g.186288564A>T | CA358946241 | F11,F11-AS1 | c.1828A>T (p.Asn610Tyr) c.428A>T c.1666A>T (p.Asn556Tyr) n.347A>T n.930T>A c.1831A>T (p.Asn611Tyr) c.1735A>T (p.Asn579Tyr) c.1561A>T (p.Asn521Tyr) c.1783A>T (p.Asn595Tyr) | |
4 | g.186288565A>C | CA358946242 | F11,F11-AS1 | c.1829A>C (p.Asn610Thr) c.429A>C c.1667A>C (p.Asn556Thr) n.348A>C n.929T>G c.1832A>C (p.Asn611Thr) c.1736A>C (p.Asn579Thr) c.1562A>C (p.Asn521Thr) c.1784A>C (p.Asn595Thr) | |
4 | g.186288565A>G | CA358946243 | F11,F11-AS1 | c.1829A>G (p.Asn610Ser) c.429A>G c.1667A>G (p.Asn556Ser) n.348A>G n.929T>C c.1832A>G (p.Asn611Ser) c.1736A>G (p.Asn579Ser) c.1562A>G (p.Asn521Ser) c.1784A>G (p.Asn595Ser) | |
4 | g.186288565A>T | CA358946244 | F11,F11-AS1 | c.1829A>T (p.Asn610Ile) c.429A>T c.1667A>T (p.Asn556Ile) n.348A>T n.929T>A c.1832A>T (p.Asn611Ile) c.1736A>T (p.Asn579Ile) c.1562A>T (p.Asn521Ile) c.1784A>T (p.Asn595Ile) | |
4 | g.186288566C>A | CA358946245 | F11,F11-AS1 | c.1830C>A (p.Asn610Lys) c.430C>A c.1668C>A (p.Asn556Lys) n.349C>A n.928G>T c.1833C>A (p.Asn611Lys) c.1737C>A (p.Asn579Lys) c.1563C>A (p.Asn521Lys) c.1785C>A (p.Asn595Lys) | gnomAD v4 |
4 | g.186288566C= | CA1519939858 | F11,F11-AS1 | c.1830C= (p.Asn610=) c.430C= c.1668C= (p.Asn556=) n.349C= n.928G= c.1833C= (p.Asn611=) c.1737C= (p.Asn579=) c.1563C= (p.Asn521=) c.1785C= (p.Asn595=) | |
4 | g.186288566C>G | CA358946246 | F11,F11-AS1 | c.1830C>G (p.Asn610Lys) c.430C>G c.1668C>G (p.Asn556Lys) n.349C>G n.928G>C c.1833C>G (p.Asn611Lys) c.1737C>G (p.Asn579Lys) c.1563C>G (p.Asn521Lys) c.1785C>G (p.Asn595Lys) | |
4 | g.186288566C>T | CA3164137 | F11,F11-AS1 | c.1830C>T (p.Asn610=) c.430C>T c.1668C>T (p.Asn556=) n.349C>T n.928G>A c.1833C>T (p.Asn611=) c.1737C>T (p.Asn579=) c.1563C>T (p.Asn521=) c.1785C>T (p.Asn595=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288567G>A | CA358946247 | F11,F11-AS1 | c.1831G>A (p.Val611Met) c.431G>A c.1669G>A (p.Val557Met) n.350G>A n.927C>T c.1834G>A (p.Val612Met) c.1738G>A (p.Val580Met) c.1564G>A (p.Val522Met) c.1786G>A (p.Val596Met) | ClinVar dbSNP gnomAD v4 |
4 | g.186288567G>C | CA358946248 | F11,F11-AS1 | c.1831G>C (p.Val611Leu) c.431G>C c.1669G>C (p.Val557Leu) n.350G>C n.927C>G c.1834G>C (p.Val612Leu) c.1738G>C (p.Val580Leu) c.1564G>C (p.Val522Leu) c.1786G>C (p.Val596Leu) | |
4 | g.186288567G= | CA1519939859 | F11,F11-AS1 | c.1831G= (p.Val611=) c.431G= c.1669G= (p.Val557=) n.350G= n.927C= c.1834G= (p.Val612=) c.1738G= (p.Val580=) c.1564G= (p.Val522=) c.1786G= (p.Val596=) | |
4 | g.186288567G>T | CA358946249 | F11,F11-AS1 | c.1831G>T (p.Val611Leu) c.431G>T c.1669G>T (p.Val557Leu) n.350G>T n.927C>A c.1834G>T (p.Val612Leu) c.1738G>T (p.Val580Leu) c.1564G>T (p.Val522Leu) c.1786G>T (p.Val596Leu) | |
4 | g.186288568T>A | CA112106340 | F11,F11-AS1 | c.1832T>A (p.Val611Glu) c.432T>A c.1670T>A (p.Val557Glu) n.351T>A n.926A>T c.1835T>A (p.Val612Glu) c.1739T>A (p.Val580Glu) c.1565T>A (p.Val522Glu) c.1787T>A (p.Val596Glu) | dbSNP |
4 | g.186288568T>C | CA358946250 | F11,F11-AS1 | c.1832T>C (p.Val611Ala) c.432T>C c.1670T>C (p.Val557Ala) n.351T>C n.926A>G c.1835T>C (p.Val612Ala) c.1739T>C (p.Val580Ala) c.1565T>C (p.Val522Ala) c.1787T>C (p.Val596Ala) | |
4 | g.186288568T>G | CA358946251 | F11,F11-AS1 | c.1832T>G (p.Val611Gly) c.432T>G c.1670T>G (p.Val557Gly) n.351T>G n.926A>C c.1835T>G (p.Val612Gly) c.1739T>G (p.Val580Gly) c.1565T>G (p.Val522Gly) c.1787T>G (p.Val596Gly) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288568T= | CA1519939860 | F11,F11-AS1 | c.1832T= (p.Val611=) c.432T= c.1670T= (p.Val557=) n.351T= n.926A= c.1835T= (p.Val612=) c.1739T= (p.Val580=) c.1565T= (p.Val522=) c.1787T= (p.Val596=) | |
4 | g.186288569G>A | CA442641405 | F11,F11-AS1 | c.1833G>A (p.Val611=) c.433G>A c.1671G>A (p.Val557=) n.352G>A n.925C>T c.1836G>A (p.Val612=) c.1740G>A (p.Val580=) c.1566G>A (p.Val522=) c.1788G>A (p.Val596=) | |
4 | g.186288569G>C | CA442641407 | F11,F11-AS1 | c.1833G>C (p.Val611=) c.433G>C c.1671G>C (p.Val557=) n.352G>C n.925C>G c.1836G>C (p.Val612=) c.1740G>C (p.Val580=) c.1566G>C (p.Val522=) c.1788G>C (p.Val596=) | |
4 | g.186288569G>T | CA442641406 | F11,F11-AS1 | c.1833G>T (p.Val611=) c.433G>T c.1671G>T (p.Val557=) n.352G>T n.925C>A c.1836G>T (p.Val612=) c.1740G>T (p.Val580=) c.1566G>T (p.Val522=) c.1788G>T (p.Val596=) | |
4 | g.186288570G>A | CA358946252 | F11,F11-AS1 | c.1834G>A (p.Val612Ile) c.434G>A c.1672G>A (p.Val558Ile) n.353G>A n.924C>T c.1837G>A (p.Val613Ile) c.1741G>A (p.Val581Ile) c.1567G>A (p.Val523Ile) c.1789G>A (p.Val597Ile) | |
4 | g.186288570G>C | CA358946254 | F11,F11-AS1 | c.1834G>C (p.Val612Leu) c.434G>C c.1672G>C (p.Val558Leu) n.353G>C n.924C>G c.1837G>C (p.Val613Leu) c.1741G>C (p.Val581Leu) c.1567G>C (p.Val523Leu) c.1789G>C (p.Val597Leu) | |
4 | g.186288570G>T | CA358946253 | F11,F11-AS1 | c.1834G>T (p.Val612Phe) c.434G>T c.1672G>T (p.Val558Phe) n.353G>T n.924C>A c.1837G>T (p.Val613Phe) c.1741G>T (p.Val581Phe) c.1567G>T (p.Val523Phe) c.1789G>T (p.Val597Phe) | |
4 | g.186288571T>A | CA358946255 | F11,F11-AS1 | c.1835T>A (p.Val612Asp) c.435T>A c.1673T>A (p.Val558Asp) n.354T>A n.923A>T c.1838T>A (p.Val613Asp) c.1742T>A (p.Val581Asp) c.1568T>A (p.Val523Asp) c.1790T>A (p.Val597Asp) | |
4 | g.186288571T>C | CA358946256 | F11,F11-AS1 | c.1835T>C (p.Val612Ala) c.435T>C c.1673T>C (p.Val558Ala) n.354T>C n.923A>G c.1838T>C (p.Val613Ala) c.1742T>C (p.Val581Ala) c.1568T>C (p.Val523Ala) c.1790T>C (p.Val597Ala) | |
4 | g.186288571T>G | CA358946257 | F11,F11-AS1 | c.1835T>G (p.Val612Gly) c.435T>G c.1673T>G (p.Val558Gly) n.354T>G n.923A>C c.1838T>G (p.Val613Gly) c.1742T>G (p.Val581Gly) c.1568T>G (p.Val523Gly) c.1790T>G (p.Val597Gly) | |
4 | g.186288572C>A | CA442641408 | F11,F11-AS1 | c.1836C>A (p.Val612=) c.436C>A c.1674C>A (p.Val558=) n.355C>A n.922G>T c.1839C>A (p.Val613=) c.1743C>A (p.Val581=) c.1569C>A (p.Val523=) c.1791C>A (p.Val597=) | gnomAD v4 |
4 | g.186288572C= | CA1519939861 | F11,F11-AS1 | c.1836C= (p.Val612=) c.436C= c.1674C= (p.Val558=) n.355C= n.922G= c.1839C= (p.Val613=) c.1743C= (p.Val581=) c.1569C= (p.Val523=) c.1791C= (p.Val597=) | |
4 | g.186288572C>G | CA442641409 | F11,F11-AS1 | c.1836C>G (p.Val612=) c.436C>G c.1674C>G (p.Val558=) n.355C>G n.922G>C c.1839C>G (p.Val613=) c.1743C>G (p.Val581=) c.1569C>G (p.Val523=) c.1791C>G (p.Val597=) | |
4 | g.186288572C>T | CA3164138 | F11,F11-AS1 | c.1836C>T (p.Val612=) c.436C>T c.1674C>T (p.Val558=) n.355C>T n.922G>A c.1839C>T (p.Val613=) c.1743C>T (p.Val581=) c.1569C>T (p.Val523=) c.1791C>T (p.Val597=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288573G>A | CA3164139 | F11,F11-AS1 | c.1837G>A (p.Glu613Lys) c.437G>A c.1675G>A (p.Glu559Lys) n.356G>A n.921C>T c.1840G>A (p.Glu614Lys) c.1744G>A (p.Glu582Lys) c.1570G>A (p.Glu524Lys) c.1792G>A (p.Glu598Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288573G>C | CA358946259 | F11,F11-AS1 | c.1837G>C (p.Glu613Gln) c.437G>C c.1675G>C (p.Glu559Gln) n.356G>C n.921C>G c.1840G>C (p.Glu614Gln) c.1744G>C (p.Glu582Gln) c.1570G>C (p.Glu524Gln) c.1792G>C (p.Glu598Gln) | |
4 | g.186288573G= | CA1519939862 | F11,F11-AS1 | c.1837G= (p.Glu613=) c.437G= c.1675G= (p.Glu559=) n.356G= n.921C= c.1840G= (p.Glu614=) c.1744G= (p.Glu582=) c.1570G= (p.Glu524=) c.1792G= (p.Glu598=) | |
4 | g.186288573G>T | CA358946258 | F11,F11-AS1 | c.1837G>T (p.Glu613Ter) c.437G>T c.1675G>T (p.Glu559Ter) n.356G>T n.921C>A c.1840G>T (p.Glu614Ter) c.1744G>T (p.Glu582Ter) c.1570G>T (p.Glu524Ter) c.1792G>T (p.Glu598Ter) | |
4 | g.186288574A>C | CA358946260 | F11,F11-AS1 | c.1838A>C (p.Glu613Ala) c.438A>C c.1676A>C (p.Glu559Ala) n.357A>C n.920T>G c.1841A>C (p.Glu614Ala) c.1745A>C (p.Glu582Ala) c.1571A>C (p.Glu524Ala) c.1793A>C (p.Glu598Ala) | |
4 | g.186288574A>G | CA358946262 | F11,F11-AS1 | c.1838A>G (p.Glu613Gly) c.438A>G c.1676A>G (p.Glu559Gly) n.357A>G n.920T>C c.1841A>G (p.Glu614Gly) c.1745A>G (p.Glu582Gly) c.1571A>G (p.Glu524Gly) c.1793A>G (p.Glu598Gly) | |
4 | g.186288574A>T | CA358946261 | F11,F11-AS1 | c.1838A>T (p.Glu613Val) c.438A>T c.1676A>T (p.Glu559Val) n.357A>T n.920T>A c.1841A>T (p.Glu614Val) c.1745A>T (p.Glu582Val) c.1571A>T (p.Glu524Val) c.1793A>T (p.Glu598Val) | |
4 | g.186288575G>A | CA3164140 | F11,F11-AS1 | c.1839G>A (p.Glu613=) c.439G>A c.1677G>A (p.Glu559=) n.358G>A n.919C>T c.1842G>A (p.Glu614=) c.1746G>A (p.Glu582=) c.1572G>A (p.Glu524=) c.1794G>A (p.Glu598=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288575G>C | CA358946263 | F11,F11-AS1 | c.1839G>C (p.Glu613Asp) c.439G>C c.1677G>C (p.Glu559Asp) n.358G>C n.919C>G c.1842G>C (p.Glu614Asp) c.1746G>C (p.Glu582Asp) c.1572G>C (p.Glu524Asp) c.1794G>C (p.Glu598Asp) | |
4 | g.186288575G= | CA1519939863 | F11,F11-AS1 | c.1839G= (p.Glu613=) c.439G= c.1677G= (p.Glu559=) n.358G= n.919C= c.1842G= (p.Glu614=) c.1746G= (p.Glu582=) c.1572G= (p.Glu524=) c.1794G= (p.Glu598=) | |
4 | g.186288575G>T | CA358946264 | F11,F11-AS1 | c.1839G>T (p.Glu613Asp) c.439G>T c.1677G>T (p.Glu559Asp) n.358G>T n.919C>A c.1842G>T (p.Glu614Asp) c.1746G>T (p.Glu582Asp) c.1572G>T (p.Glu524Asp) c.1794G>T (p.Glu598Asp) | |
4 | g.186288576T>A | CA358946265 | F11,F11-AS1 | c.1840T>A (p.Tyr614Asn) c.440T>A c.1678T>A (p.Tyr560Asn) n.359T>A n.918A>T c.1843T>A (p.Tyr615Asn) c.1747T>A (p.Tyr583Asn) c.1573T>A (p.Tyr525Asn) c.1795T>A (p.Tyr599Asn) | |
4 | g.186288576T>C | CA358946266 | F11,F11-AS1 | c.1840T>C (p.Tyr614His) c.440T>C c.1678T>C (p.Tyr560His) n.359T>C n.918A>G c.1843T>C (p.Tyr615His) c.1747T>C (p.Tyr583His) c.1573T>C (p.Tyr525His) c.1795T>C (p.Tyr599His) | |
4 | g.186288576T>G | CA358946267 | F11,F11-AS1 | c.1840T>G (p.Tyr614Asp) c.440T>G c.1678T>G (p.Tyr560Asp) n.359T>G n.918A>C c.1843T>G (p.Tyr615Asp) c.1747T>G (p.Tyr583Asp) c.1573T>G (p.Tyr525Asp) c.1795T>G (p.Tyr599Asp) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288576T= | CA1519939864 | F11,F11-AS1 | c.1840T= (p.Tyr614=) c.440T= c.1678T= (p.Tyr560=) n.359T= n.918A= c.1843T= (p.Tyr615=) c.1747T= (p.Tyr583=) c.1573T= (p.Tyr525=) c.1795T= (p.Tyr599=) | |
4 | g.186288577A>C | CA358946268 | F11,F11-AS1 | c.1841A>C (p.Tyr614Ser) c.441A>C c.1679A>C (p.Tyr560Ser) n.360A>C n.917T>G c.1844A>C (p.Tyr615Ser) c.1748A>C (p.Tyr583Ser) c.1574A>C (p.Tyr525Ser) c.1796A>C (p.Tyr599Ser) | |
4 | g.186288577A>G | CA358946269 | F11,F11-AS1 | c.1841A>G (p.Tyr614Cys) c.441A>G c.1679A>G (p.Tyr560Cys) n.360A>G n.917T>C c.1844A>G (p.Tyr615Cys) c.1748A>G (p.Tyr583Cys) c.1574A>G (p.Tyr525Cys) c.1796A>G (p.Tyr599Cys) | |
4 | g.186288577A>T | CA358946270 | F11,F11-AS1 | c.1841A>T (p.Tyr614Phe) c.441A>T c.1679A>T (p.Tyr560Phe) n.360A>T n.917T>A c.1844A>T (p.Tyr615Phe) c.1748A>T (p.Tyr583Phe) c.1574A>T (p.Tyr525Phe) c.1796A>T (p.Tyr599Phe) | |
4 | g.186288578C>A | CA358946271 | F11,F11-AS1 | c.1842C>A (p.Tyr614Ter) c.442C>A c.1680C>A (p.Tyr560Ter) n.361C>A n.916G>T c.1845C>A (p.Tyr615Ter) c.1749C>A (p.Tyr583Ter) c.1575C>A (p.Tyr525Ter) c.1797C>A (p.Tyr599Ter) | |
4 | g.186288578C= | CA1519939865 | F11,F11-AS1 | c.1842C= (p.Tyr614=) c.442C= c.1680C= (p.Tyr560=) n.361C= n.916G= c.1845C= (p.Tyr615=) c.1749C= (p.Tyr583=) c.1575C= (p.Tyr525=) c.1797C= (p.Tyr599=) | |
4 | g.186288578C>G | CA358946272 | F11,F11-AS1 | c.1842C>G (p.Tyr614Ter) c.442C>G c.1680C>G (p.Tyr560Ter) n.361C>G n.916G>C c.1845C>G (p.Tyr615Ter) c.1749C>G (p.Tyr583Ter) c.1575C>G (p.Tyr525Ter) c.1797C>G (p.Tyr599Ter) | |
4 | g.186288578C>T | CA3164141 | F11,F11-AS1 | c.1842C>T (p.Tyr614=) c.442C>T c.1680C>T (p.Tyr560=) n.361C>T n.916G>A c.1845C>T (p.Tyr615=) c.1749C>T (p.Tyr583=) c.1575C>T (p.Tyr525=) c.1797C>T (p.Tyr599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288579G>A | CA3164142 | F11,F11-AS1 | c.1843G>A (p.Val615Met) c.443G>A c.1681G>A (p.Val561Met) n.362G>A n.915C>T c.1846G>A (p.Val616Met) c.1750G>A (p.Val584Met) c.1576G>A (p.Val526Met) c.1798G>A (p.Val600Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288579G>C | CA358946273 | F11,F11-AS1 | c.1843G>C (p.Val615Leu) c.443G>C c.1681G>C (p.Val561Leu) n.362G>C n.915C>G c.1846G>C (p.Val616Leu) c.1750G>C (p.Val584Leu) c.1576G>C (p.Val526Leu) c.1798G>C (p.Val600Leu) | |
4 | g.186288579G= | CA1519939866 | F11,F11-AS1 | c.1843G= (p.Val615=) c.443G= c.1681G= (p.Val561=) n.362G= n.915C= c.1846G= (p.Val616=) c.1750G= (p.Val584=) c.1576G= (p.Val526=) c.1798G= (p.Val600=) | |
4 | g.186288579G>T | CA358946274 | F11,F11-AS1 | c.1843G>T (p.Val615Leu) c.443G>T c.1681G>T (p.Val561Leu) n.362G>T n.915C>A c.1846G>T (p.Val616Leu) c.1750G>T (p.Val584Leu) c.1576G>T (p.Val526Leu) c.1798G>T (p.Val600Leu) | |
4 | g.186288580T>A | CA358946275 | F11,F11-AS1 | c.1844T>A (p.Val615Glu) c.444T>A c.1682T>A (p.Val561Glu) n.363T>A n.914A>T c.1847T>A (p.Val616Glu) c.1751T>A (p.Val584Glu) c.1577T>A (p.Val526Glu) c.1799T>A (p.Val600Glu) | |
4 | g.186288580T>C | CA358946276 | F11,F11-AS1 | c.1844T>C (p.Val615Ala) c.444T>C c.1682T>C (p.Val561Ala) n.363T>C n.914A>G c.1847T>C (p.Val616Ala) c.1751T>C (p.Val584Ala) c.1577T>C (p.Val526Ala) c.1799T>C (p.Val600Ala) | |
4 | g.186288580T>G | CA3164143 | F11,F11-AS1 | c.1844T>G (p.Val615Gly) c.444T>G c.1682T>G (p.Val561Gly) n.363T>G n.914A>C c.1847T>G (p.Val616Gly) c.1751T>G (p.Val584Gly) c.1577T>G (p.Val526Gly) c.1799T>G (p.Val600Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288580T= | CA1519939867 | F11,F11-AS1 | c.1844T= (p.Val615=) c.444T= c.1682T= (p.Val561=) n.363T= n.914A= c.1847T= (p.Val616=) c.1751T= (p.Val584=) c.1577T= (p.Val526=) c.1799T= (p.Val600=) | |
4 | g.186288581G>A | CA442641413 | F11,F11-AS1 | c.1845G>A (p.Val615=) c.445G>A c.1683G>A (p.Val561=) n.364G>A n.913C>T c.1848G>A (p.Val616=) c.1752G>A (p.Val584=) c.1578G>A (p.Val526=) c.1800G>A (p.Val600=) | dbSNP COSMIC COSMIC |
4 | g.186288581G>C | CA442641415 | F11,F11-AS1 | c.1845G>C (p.Val615=) c.445G>C c.1683G>C (p.Val561=) n.364G>C n.913C>G c.1848G>C (p.Val616=) c.1752G>C (p.Val584=) c.1578G>C (p.Val526=) c.1800G>C (p.Val600=) | |
4 | g.186288581G= | CA1519939868 | F11,F11-AS1 | c.1845G= (p.Val615=) c.445G= c.1683G= (p.Val561=) n.364G= n.913C= c.1848G= (p.Val616=) c.1752G= (p.Val584=) c.1578G= (p.Val526=) c.1800G= (p.Val600=) | |
4 | g.186288581G>T | CA442641414 | F11,F11-AS1 | c.1845G>T (p.Val615=) c.445G>T c.1683G>T (p.Val561=) n.364G>T n.913C>A c.1848G>T (p.Val616=) c.1752G>T (p.Val584=) c.1578G>T (p.Val526=) c.1800G>T (p.Val600=) | gnomAD v4 |
4 | g.186288582G>A | CA3164144 | F11,F11-AS1 | c.1846G>A (p.Asp616Asn) c.446G>A c.1684G>A (p.Asp562Asn) n.365G>A n.912C>T c.1849G>A (p.Asp617Asn) c.1753G>A (p.Asp585Asn) c.1579G>A (p.Asp527Asn) c.1801G>A (p.Asp601Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288582G>C | CA358946277 | F11,F11-AS1 | c.1846G>C (p.Asp616His) c.446G>C c.1684G>C (p.Asp562His) n.365G>C n.912C>G c.1849G>C (p.Asp617His) c.1753G>C (p.Asp585His) c.1579G>C (p.Asp527His) c.1801G>C (p.Asp601His) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288582G= | CA1519939869 | F11,F11-AS1 | c.1846G= (p.Asp616=) c.446G= c.1684G= (p.Asp562=) n.365G= n.912C= c.1849G= (p.Asp617=) c.1753G= (p.Asp585=) c.1579G= (p.Asp527=) c.1801G= (p.Asp601=) | |
4 | g.186288582G>T | CA358946278 | F11,F11-AS1 | c.1846G>T (p.Asp616Tyr) c.446G>T c.1684G>T (p.Asp562Tyr) n.365G>T n.912C>A c.1849G>T (p.Asp617Tyr) c.1753G>T (p.Asp585Tyr) c.1579G>T (p.Asp527Tyr) c.1801G>T (p.Asp601Tyr) | |
4 | g.186288583A>C | CA358946279 | F11,F11-AS1 | c.1847A>C (p.Asp616Ala) c.447A>C c.1685A>C (p.Asp562Ala) n.366A>C n.911T>G c.1850A>C (p.Asp617Ala) c.1754A>C (p.Asp585Ala) c.1580A>C (p.Asp527Ala) c.1802A>C (p.Asp601Ala) | |
4 | g.186288583A>G | CA358946280 | F11,F11-AS1 | c.1847A>G (p.Asp616Gly) c.447A>G c.1685A>G (p.Asp562Gly) n.366A>G n.911T>C c.1850A>G (p.Asp617Gly) c.1754A>G (p.Asp585Gly) c.1580A>G (p.Asp527Gly) c.1802A>G (p.Asp601Gly) | gnomAD v4 |
4 | g.186288583A>T | CA358946281 | F11,F11-AS1 | c.1847A>T (p.Asp616Val) c.447A>T c.1685A>T (p.Asp562Val) n.366A>T n.911T>A c.1850A>T (p.Asp617Val) c.1754A>T (p.Asp585Val) c.1580A>T (p.Asp527Val) c.1802A>T (p.Asp601Val) | |
4 | g.186288584C>A | CA358946282 | F11,F11-AS1 | c.1848C>A (p.Asp616Glu) c.448C>A c.1686C>A (p.Asp562Glu) n.367C>A n.910G>T c.1851C>A (p.Asp617Glu) c.1755C>A (p.Asp585Glu) c.1581C>A (p.Asp527Glu) c.1803C>A (p.Asp601Glu) | |
4 | g.186288584C>G | CA358946283 | F11,F11-AS1 | c.1848C>G (p.Asp616Glu) c.448C>G c.1686C>G (p.Asp562Glu) n.367C>G n.910G>C c.1851C>G (p.Asp617Glu) c.1755C>G (p.Asp585Glu) c.1581C>G (p.Asp527Glu) c.1803C>G (p.Asp601Glu) | |
4 | g.186288584C>T | CA442641417 | F11,F11-AS1 | c.1848C>T (p.Asp616=) c.448C>T c.1686C>T (p.Asp562=) n.367C>T n.910G>A c.1851C>T (p.Asp617=) c.1755C>T (p.Asp585=) c.1581C>T (p.Asp527=) c.1803C>T (p.Asp601=) | gnomAD v4 |
4 | g.186288585T>A | CA358946285 | F11,F11-AS1 | c.1849T>A (p.Trp617Arg) c.449T>A c.1687T>A (p.Trp563Arg) n.368T>A n.909A>T c.1852T>A (p.Trp618Arg) c.1756T>A (p.Trp586Arg) c.1582T>A (p.Trp528Arg) c.1804T>A (p.Trp602Arg) | |
4 | g.186288585T>C | CA358946286 | F11,F11-AS1 | c.1849T>C (p.Trp617Arg) c.449T>C c.1687T>C (p.Trp563Arg) n.368T>C n.909A>G c.1852T>C (p.Trp618Arg) c.1756T>C (p.Trp586Arg) c.1582T>C (p.Trp528Arg) c.1804T>C (p.Trp602Arg) | |
4 | g.186288585T>G | CA358946284 | F11,F11-AS1 | c.1849T>G (p.Trp617Gly) c.449T>G c.1687T>G (p.Trp563Gly) n.368T>G n.909A>C c.1852T>G (p.Trp618Gly) c.1756T>G (p.Trp586Gly) c.1582T>G (p.Trp528Gly) c.1804T>G (p.Trp602Gly) | gnomAD v4 |
4 | g.186288586G>A | CA358946287 | F11,F11-AS1 | c.1850G>A (p.Trp617Ter) c.450G>A c.1688G>A (p.Trp563Ter) n.369G>A n.908C>T c.1853G>A (p.Trp618Ter) c.1757G>A (p.Trp586Ter) c.1583G>A (p.Trp528Ter) c.1805G>A (p.Trp602Ter) | gnomAD v4 |
4 | g.186288586G>C | CA358946288 | F11,F11-AS1 | c.1850G>C (p.Trp617Ser) c.450G>C c.1688G>C (p.Trp563Ser) n.369G>C n.908C>G c.1853G>C (p.Trp618Ser) c.1757G>C (p.Trp586Ser) c.1583G>C (p.Trp528Ser) c.1805G>C (p.Trp602Ser) | |
4 | g.186288586G>T | CA358946289 | F11,F11-AS1 | c.1850G>T (p.Trp617Leu) c.450G>T c.1688G>T (p.Trp563Leu) n.369G>T n.908C>A c.1853G>T (p.Trp618Leu) c.1757G>T (p.Trp586Leu) c.1583G>T (p.Trp528Leu) c.1805G>T (p.Trp602Leu) | |
4 | g.186288587G>A | CA358946290 | F11,F11-AS1 | c.1851G>A (p.Trp617Ter) c.451G>A c.1689G>A (p.Trp563Ter) n.370G>A n.907C>T c.1854G>A (p.Trp618Ter) c.1758G>A (p.Trp586Ter) c.1584G>A (p.Trp528Ter) c.1806G>A (p.Trp602Ter) | gnomAD v4 |
4 | g.186288587G>C | CA358946291 | F11,F11-AS1 | c.1851G>C (p.Trp617Cys) c.451G>C c.1689G>C (p.Trp563Cys) n.370G>C n.907C>G c.1854G>C (p.Trp618Cys) c.1758G>C (p.Trp586Cys) c.1584G>C (p.Trp528Cys) c.1806G>C (p.Trp602Cys) | gnomAD v4 |
4 | g.186288587G>T | CA358946292 | F11,F11-AS1 | c.1851G>T (p.Trp617Cys) c.451G>T c.1689G>T (p.Trp563Cys) n.370G>T n.907C>A c.1854G>T (p.Trp618Cys) c.1758G>T (p.Trp586Cys) c.1584G>T (p.Trp528Cys) c.1806G>T (p.Trp602Cys) | |
4 | g.186288588A>C | CA358946293 | F11,F11-AS1 | c.1852A>C (p.Ile618Leu) c.452A>C c.1690A>C (p.Ile564Leu) n.371A>C n.906T>G c.1855A>C (p.Ile619Leu) c.1759A>C (p.Ile587Leu) c.1585A>C (p.Ile529Leu) c.1807A>C (p.Ile603Leu) | |
4 | g.186288588A>G | CA358946294 | F11,F11-AS1 | c.1852A>G (p.Ile618Val) c.452A>G c.1690A>G (p.Ile564Val) n.371A>G n.906T>C c.1855A>G (p.Ile619Val) c.1759A>G (p.Ile587Val) c.1585A>G (p.Ile529Val) c.1807A>G (p.Ile603Val) | ClinVar dbSNP gnomAD v4 |
4 | g.186288588A>T | CA358946295 | F11,F11-AS1 | c.1852A>T (p.Ile618Phe) c.452A>T c.1690A>T (p.Ile564Phe) n.371A>T n.906T>A c.1855A>T (p.Ile619Phe) c.1759A>T (p.Ile587Phe) c.1585A>T (p.Ile529Phe) c.1807A>T (p.Ile603Phe) | |
4 | g.186288589T>A | CA358946296 | F11,F11-AS1 | c.1853T>A (p.Ile618Asn) c.453T>A c.1691T>A (p.Ile564Asn) n.372T>A n.905A>T c.1856T>A (p.Ile619Asn) c.1760T>A (p.Ile587Asn) c.1586T>A (p.Ile529Asn) c.1808T>A (p.Ile603Asn) | |
4 | g.186288589T>C | CA358946297 | F11,F11-AS1 | c.1853T>C (p.Ile618Thr) c.453T>C c.1691T>C (p.Ile564Thr) n.372T>C n.905A>G c.1856T>C (p.Ile619Thr) c.1760T>C (p.Ile587Thr) c.1586T>C (p.Ile529Thr) c.1808T>C (p.Ile603Thr) | |
4 | g.186288589T>G | CA219134 | F11,F11-AS1 | c.1853T>G (p.Ile618Ser) c.453T>G c.1691T>G (p.Ile564Ser) n.372T>G n.905A>C c.1856T>G (p.Ile619Ser) c.1760T>G (p.Ile587Ser) c.1586T>G (p.Ile529Ser) c.1808T>G (p.Ile603Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288589T= | CA1519939870 | F11,F11-AS1 | c.1853T= (p.Ile618=) c.453T= c.1691T= (p.Ile564=) n.372T= n.905A= c.1856T= (p.Ile619=) c.1760T= (p.Ile587=) c.1586T= (p.Ile529=) c.1808T= (p.Ile603=) | |
4 | g.186288590T>A | CA442641421 | F11,F11-AS1 | c.1854T>A (p.Ile618=) c.454T>A c.1692T>A (p.Ile564=) n.373T>A n.904A>T c.1857T>A (p.Ile619=) c.1761T>A (p.Ile587=) c.1587T>A (p.Ile529=) c.1809T>A (p.Ile603=) | |
4 | g.186288590T>C | CA442641420 | F11,F11-AS1 | c.1854T>C (p.Ile618=) c.454T>C c.1692T>C (p.Ile564=) n.373T>C n.904A>G c.1857T>C (p.Ile619=) c.1761T>C (p.Ile587=) c.1587T>C (p.Ile529=) c.1809T>C (p.Ile603=) | |
4 | g.186288590T>G | CA358946298 | F11,F11-AS1 | c.1854T>G (p.Ile618Met) c.454T>G c.1692T>G (p.Ile564Met) n.373T>G n.904A>C c.1857T>G (p.Ile619Met) c.1761T>G (p.Ile587Met) c.1587T>G (p.Ile529Met) c.1809T>G (p.Ile603Met) | |
4 | g.186288591C>A | CA358946300 | F11,F11-AS1 | c.1855C>A (p.Leu619Met) c.455C>A c.1693C>A (p.Leu565Met) n.374C>A n.903G>T c.1858C>A (p.Leu620Met) c.1762C>A (p.Leu588Met) c.1588C>A (p.Leu530Met) c.1810C>A (p.Leu604Met) | |
4 | g.186288591C>G | CA358946299 | F11,F11-AS1 | c.1855C>G (p.Leu619Val) c.455C>G c.1693C>G (p.Leu565Val) n.374C>G n.903G>C c.1858C>G (p.Leu620Val) c.1762C>G (p.Leu588Val) c.1588C>G (p.Leu530Val) c.1810C>G (p.Leu604Val) | |
4 | g.186288591C>T | CA442641423 | F11,F11-AS1 | c.1855C>T (p.Leu619=) c.455C>T c.1693C>T (p.Leu565=) n.374C>T n.903G>A c.1858C>T (p.Leu620=) c.1762C>T (p.Leu588=) c.1588C>T (p.Leu530=) c.1810C>T (p.Leu604=) | |
4 | g.186288592T>A | CA358946301 | F11,F11-AS1 | c.1856T>A (p.Leu619Gln) c.456T>A c.1694T>A (p.Leu565Gln) n.375T>A n.902A>T c.1859T>A (p.Leu620Gln) c.1763T>A (p.Leu588Gln) c.1589T>A (p.Leu530Gln) c.1811T>A (p.Leu604Gln) | gnomAD v4 |
4 | g.186288592T>C | CA3164145 | F11,F11-AS1 | c.1856T>C (p.Leu619Pro) c.456T>C c.1694T>C (p.Leu565Pro) n.375T>C n.902A>G c.1859T>C (p.Leu620Pro) c.1763T>C (p.Leu588Pro) c.1589T>C (p.Leu530Pro) c.1811T>C (p.Leu604Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.186288592T>G | CA358946302 | F11,F11-AS1 | c.1856T>G (p.Leu619Arg) c.456T>G c.1694T>G (p.Leu565Arg) n.375T>G n.902A>C c.1859T>G (p.Leu620Arg) c.1763T>G (p.Leu588Arg) c.1589T>G (p.Leu530Arg) c.1811T>G (p.Leu604Arg) | |
4 | g.186288592T= | CA1519939871 | F11,F11-AS1 | c.1856T= (p.Leu619=) c.456T= c.1694T= (p.Leu565=) n.375T= n.902A= c.1859T= (p.Leu620=) c.1763T= (p.Leu588=) c.1589T= (p.Leu530=) c.1811T= (p.Leu604=) | |
4 | g.186288593G>A | CA442641424 | F11,F11-AS1 | c.1857G>A (p.Leu619=) c.457G>A c.1695G>A (p.Leu565=) n.376G>A n.901C>T c.1860G>A (p.Leu620=) c.1764G>A (p.Leu588=) c.1590G>A (p.Leu530=) c.1812G>A (p.Leu604=) | gnomAD v4 |
4 | g.186288593G>C | CA442641425 | F11,F11-AS1 | c.1857G>C (p.Leu619=) c.457G>C c.1695G>C (p.Leu565=) n.376G>C n.901C>G c.1860G>C (p.Leu620=) c.1764G>C (p.Leu588=) c.1590G>C (p.Leu530=) c.1812G>C (p.Leu604=) | |
4 | g.186288593G>T | CA442641426 | F11,F11-AS1 | c.1857G>T (p.Leu619=) c.457G>T c.1695G>T (p.Leu565=) n.376G>T n.901C>A c.1860G>T (p.Leu620=) c.1764G>T (p.Leu588=) c.1590G>T (p.Leu530=) c.1812G>T (p.Leu604=) | gnomAD v4 |
4 | g.186288594G>A | CA358946303 | F11,F11-AS1 | c.1858G>A (p.Glu620Lys) c.458G>A c.1696G>A (p.Glu566Lys) n.377G>A n.900C>T c.1861G>A (p.Glu621Lys) c.1765G>A (p.Glu589Lys) c.1591G>A (p.Glu531Lys) c.1813G>A (p.Glu605Lys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288594G>C | CA3164146 | F11,F11-AS1 | c.1858G>C (p.Glu620Gln) c.458G>C c.1696G>C (p.Glu566Gln) n.377G>C n.900C>G c.1861G>C (p.Glu621Gln) c.1765G>C (p.Glu589Gln) c.1591G>C (p.Glu531Gln) c.1813G>C (p.Glu605Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.186288594G= | CA1519939872 | F11,F11-AS1 | c.1858G= (p.Glu620=) c.458G= c.1696G= (p.Glu566=) n.377G= n.900C= c.1861G= (p.Glu621=) c.1765G= (p.Glu589=) c.1591G= (p.Glu531=) c.1813G= (p.Glu605=) | |
4 | g.186288594G>T | CA358946307 | F11,F11-AS1 | c.1858G>T (p.Glu620Ter) c.458G>T c.1696G>T (p.Glu566Ter) n.377G>T n.900C>A c.1861G>T (p.Glu621Ter) c.1765G>T (p.Glu589Ter) c.1591G>T (p.Glu531Ter) c.1813G>T (p.Glu605Ter) | |
4 | g.186288594_186288595delinsAG | CA2695204113 | F11,F11-AS1 | c.1858_1859delinsAG (p.Glu620Arg) c.458_459delinsAG c.1696_1697delinsAG (p.Glu566Arg) n.377_378delinsAG n.899_900delinsCT c.1861_1862delinsAG (p.Glu621Arg) c.1765_1766delinsAG (p.Glu589Arg) c.1591_1592delinsAG (p.Glu531Arg) c.1813_1814delinsAG (p.Glu605Arg) | |
4 | g.186288595A= | CA1519939873 | F11,F11-AS1 | c.1859A= (p.Glu620=) c.459A= c.1697A= (p.Glu566=) n.378A= n.899T= c.1862A= (p.Glu621=) c.1766A= (p.Glu589=) c.1592A= (p.Glu531=) c.1814A= (p.Glu605=) | |
4 | g.186288595A>C | CA358946316 | F11,F11-AS1 | c.1859A>C (p.Glu620Ala) c.459A>C c.1697A>C (p.Glu566Ala) n.378A>C n.899T>G c.1862A>C (p.Glu621Ala) c.1766A>C (p.Glu589Ala) c.1592A>C (p.Glu531Ala) c.1814A>C (p.Glu605Ala) | |
4 | g.186288595A>G | CA358946311 | F11,F11-AS1 | c.1859A>G (p.Glu620Gly) c.459A>G c.1697A>G (p.Glu566Gly) n.378A>G n.899T>C c.1862A>G (p.Glu621Gly) c.1766A>G (p.Glu589Gly) c.1592A>G (p.Glu531Gly) c.1814A>G (p.Glu605Gly) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.186288595A>T | CA358946314 | F11,F11-AS1 | c.1859A>T (p.Glu620Val) c.459A>T c.1697A>T (p.Glu566Val) n.378A>T n.899T>A c.1862A>T (p.Glu621Val) c.1766A>T (p.Glu589Val) c.1592A>T (p.Glu531Val) c.1814A>T (p.Glu605Val) | |
4 | g.186288596G>A | CA442641427 | F11,F11-AS1 | c.1860G>A (p.Glu620=) c.460G>A c.1698G>A (p.Glu566=) n.379G>A n.898C>T c.1863G>A (p.Glu621=) c.1767G>A (p.Glu589=) c.1593G>A (p.Glu531=) c.1815G>A (p.Glu605=) | |
4 | g.186288596G>C | CA358946320 | F11,F11-AS1 | c.1860G>C (p.Glu620Asp) c.460G>C c.1698G>C (p.Glu566Asp) n.379G>C n.898C>G c.1863G>C (p.Glu621Asp) c.1767G>C (p.Glu589Asp) c.1593G>C (p.Glu531Asp) c.1815G>C (p.Glu605Asp) | |
4 | g.186288596G>T | CA358946322 | F11,F11-AS1 | c.1860G>T (p.Glu620Asp) c.460G>T c.1698G>T (p.Glu566Asp) n.379G>T n.898C>A c.1863G>T (p.Glu621Asp) c.1767G>T (p.Glu589Asp) c.1593G>T (p.Glu531Asp) c.1815G>T (p.Glu605Asp) | |
4 | g.186288597A>C | CA358946326 | F11,F11-AS1 | c.1861A>C (p.Lys621Gln) c.461A>C c.1699A>C (p.Lys567Gln) n.380A>C n.897T>G c.1864A>C (p.Lys622Gln) c.1768A>C (p.Lys590Gln) c.1594A>C (p.Lys532Gln) c.1816A>C (p.Lys606Gln) | |
4 | g.186288597A>G | CA358946328 | F11,F11-AS1 | c.1861A>G (p.Lys621Glu) c.461A>G c.1699A>G (p.Lys567Glu) n.380A>G n.897T>C c.1864A>G (p.Lys622Glu) c.1768A>G (p.Lys590Glu) c.1594A>G (p.Lys532Glu) c.1816A>G (p.Lys606Glu) | |
4 | g.186288597A>T | CA358946331 | F11,F11-AS1 | c.1861A>T (p.Lys621Ter) c.461A>T c.1699A>T (p.Lys567Ter) n.380A>T n.897T>A c.1864A>T (p.Lys622Ter) c.1768A>T (p.Lys590Ter) c.1594A>T (p.Lys532Ter) c.1816A>T (p.Lys606Ter) | |
4 | g.186288598A>C | CA358946341 | F11,F11-AS1 | c.1862A>C (p.Lys621Thr) c.462A>C c.1700A>C (p.Lys567Thr) n.381A>C n.896T>G c.1865A>C (p.Lys622Thr) c.1769A>C (p.Lys590Thr) c.1595A>C (p.Lys532Thr) c.1817A>C (p.Lys606Thr) | |
4 | g.186288598A>G | CA358946338 | F11,F11-AS1 | c.1862A>G (p.Lys621Arg) c.462A>G c.1700A>G (p.Lys567Arg) n.381A>G n.896T>C c.1865A>G (p.Lys622Arg) c.1769A>G (p.Lys590Arg) c.1595A>G (p.Lys532Arg) c.1817A>G (p.Lys606Arg) | |
4 | g.186288598A>T | CA358946334 | F11,F11-AS1 | c.1862A>T (p.Lys621Ile) c.462A>T c.1700A>T (p.Lys567Ile) n.381A>T n.896T>A c.1865A>T (p.Lys622Ile) c.1769A>T (p.Lys590Ile) c.1595A>T (p.Lys532Ile) c.1817A>T (p.Lys606Ile) | |
4 | g.186288599A>C | CA358946345 | F11,F11-AS1 | c.1863A>C (p.Lys621Asn) c.463A>C c.1701A>C (p.Lys567Asn) n.382A>C n.895T>G c.1866A>C (p.Lys622Asn) c.1770A>C (p.Lys590Asn) c.1596A>C (p.Lys532Asn) c.1818A>C (p.Lys606Asn) | |
4 | g.186288599A>G | CA442641429 | F11,F11-AS1 | c.1863A>G (p.Lys621=) c.463A>G c.1701A>G (p.Lys567=) n.382A>G n.895T>C c.1866A>G (p.Lys622=) c.1770A>G (p.Lys590=) c.1596A>G (p.Lys532=) c.1818A>G (p.Lys606=) | gnomAD v4 |
4 | g.186288599A>T | CA358946347 | F11,F11-AS1 | c.1863A>T (p.Lys621Asn) c.463A>T c.1701A>T (p.Lys567Asn) n.382A>T n.895T>A c.1866A>T (p.Lys622Asn) c.1770A>T (p.Lys590Asn) c.1596A>T (p.Lys532Asn) c.1818A>T (p.Lys606Asn) | |
4 | g.186288600A>C | CA358946350 | F11,F11-AS1 | c.1864A>C (p.Thr622Pro) c.464A>C c.1702A>C (p.Thr568Pro) n.383A>C n.894T>G c.1867A>C (p.Thr623Pro) c.1771A>C (p.Thr591Pro) c.1597A>C (p.Thr533Pro) c.1819A>C (p.Thr607Pro) | |
4 | g.186288600A>G | CA358946355 | F11,F11-AS1 | c.1864A>G (p.Thr622Ala) c.464A>G c.1702A>G (p.Thr568Ala) n.383A>G n.894T>C c.1867A>G (p.Thr623Ala) c.1771A>G (p.Thr591Ala) c.1597A>G (p.Thr533Ala) c.1819A>G (p.Thr607Ala) | |
4 | g.186288600A>T | CA358946352 | F11,F11-AS1 | c.1864A>T (p.Thr622Ser) c.464A>T c.1702A>T (p.Thr568Ser) n.383A>T n.894T>A c.1867A>T (p.Thr623Ser) c.1771A>T (p.Thr591Ser) c.1597A>T (p.Thr533Ser) c.1819A>T (p.Thr607Ser) | |
4 | g.186288600_186288602delinsACT | CA1519939874 | F11,F11-AS1 | c.1864_1866delinsACT (p.Thr622=) c.464_466delinsACT c.1702_1704delinsACT (p.Thr568=) n.383_385delinsACT n.892_894delinsAGT c.1867_1869delinsACT (p.Thr623=) c.1771_1773delinsACT (p.Thr591=) c.1597_1599delinsACT (p.Thr533=) c.1819_1821delinsACT (p.Thr607=) | |
4 | g.186288601C>A | CA358946357 | F11,F11-AS1 | c.1865C>A (p.Thr622Asn) c.465C>A c.1703C>A (p.Thr568Asn) n.384C>A n.893G>T c.1868C>A (p.Thr623Asn) c.1772C>A (p.Thr591Asn) c.1598C>A (p.Thr533Asn) c.1820C>A (p.Thr607Asn) | |
4 | g.186288601C= | CA1519939876 | F11,F11-AS1 | c.1865C= (p.Thr622=) c.465C= c.1703C= (p.Thr568=) n.384C= n.893G= c.1868C= (p.Thr623=) c.1772C= (p.Thr591=) c.1598C= (p.Thr533=) c.1820C= (p.Thr607=) | |
4 | g.186288601C>G | CA358946362 | F11,F11-AS1 | c.1865C>G (p.Thr622Ser) c.465C>G c.1703C>G (p.Thr568Ser) n.384C>G n.893G>C c.1868C>G (p.Thr623Ser) c.1772C>G (p.Thr591Ser) c.1598C>G (p.Thr533Ser) c.1820C>G (p.Thr607Ser) | |
4 | g.186288601C>T | CA358946360 | F11,F11-AS1 | c.1865C>T (p.Thr622Ile) c.465C>T c.1703C>T (p.Thr568Ile) n.384C>T n.893G>A c.1868C>T (p.Thr623Ile) c.1772C>T (p.Thr591Ile) c.1598C>T (p.Thr533Ile) c.1820C>T (p.Thr607Ile) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186288602_186288603del | CA1519939875 | F11,F11-AS1 | c.1866_1867del (p.Gln623SerfsTer?) c.466_467del c.1704_1705del (p.Gln569SerfsTer?) n.385_386del n.892_893del c.1869_1870del (p.Gln624SerfsTer?) c.1773_1774del (p.Gln592SerfsTer?) c.1599_1600del (p.Gln534SerfsTer?) c.1821_1822del (p.Gln608SerfsTer?) | ClinVar dbSNP |