| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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) |