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