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