Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116778263_116778270delinsCCTCTGTT | CA2002733963 | ZPR1 | c.*655_*662delinsAACAGAGG (n.*655_*662delinsAACAGAGG) c.1814_1821delinsAACAGAGG c.1947_1954delinsAACAGAGG | |
11 | g.116778266_116778272del | CA601828476 | ZPR1 | c.*655_*661del (n.*655_*661del) c.1814_1820del c.1947_1953del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778269T>C | CA942579022 | ZPR1 | c.*656A>G (n.*656A>G) c.1815A>G c.1948A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778269T= | CA2002733965 | ZPR1 | c.*656A= (n.*656A=) c.1815A= c.1948A= | |
11 | g.116778270T>C | CA2616086693 | ZPR1 | c.*655A>G (n.*655A>G) c.1814A>G c.1947A>G | gnomAD v4 |
11 | g.116778271C= | CA2002733966 | ZPR1 | c.*654G= (n.*654G=) c.1813G= c.1946G= | |
11 | g.116778271C>T | CA672168275 | ZPR1 | c.*654G>A (n.*654G>A) c.1813G>A c.1946G>A | dbSNP gnomAD v4 |
11 | g.116778273G>A | CA2603118867 | ZPR1 | c.*652C>T (n.*652C>T) c.1811C>T c.1944C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778273G>T | CA2616086695 | ZPR1 | c.*652C>A (n.*652C>A) c.1811C>A c.1944C>A | gnomAD v4 |
11 | g.116778274T>A | CA2793763961 | ZPR1 | c.*651A>T (n.*651A>T) c.1810A>T c.1943A>T | |
11 | g.116778274T>C | CA2002733967 | ZPR1 | c.*651A>G (n.*651A>G) c.1810A>G c.1943A>G | dbSNP |
11 | g.116778274T= | CA2002733968 | ZPR1 | c.*651A= (n.*651A=) c.1810A= c.1943A= | |
11 | g.116778275G>T | CA2616086697 | ZPR1 | c.*650C>A (n.*650C>A) c.1809C>A c.1942C>A | gnomAD v4 |
11 | g.116778277T>C | CA229326112 | ZPR1 | c.*648A>G (n.*648A>G) c.1807A>G c.1940A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778277T= | CA2002733969 | ZPR1 | c.*648A= (n.*648A=) c.1807A= c.1940A= | |
11 | g.116778280G>A | CA2616086703 | ZPR1 | c.*645C>T (n.*645C>T) c.1804C>T c.1937C>T | gnomAD v4 |
11 | g.116778281C>A | CA2616086705 | ZPR1 | c.*644G>T (n.*644G>T) c.1803G>T c.1936G>T | gnomAD v4 |
11 | g.116778281C>G | CA2616086707 | ZPR1 | c.*644G>C (n.*644G>C) c.1803G>C c.1936G>C | gnomAD v4 |
11 | g.116778281C>T | CA2616086708 | ZPR1 | c.*644G>A (n.*644G>A) c.1803G>A c.1936G>A | gnomAD v4 |
11 | g.116778283T>A | CA2616086710 | ZPR1 | c.*642A>T (n.*642A>T) c.1801A>T c.1934A>T | gnomAD v4 |
11 | g.116778285G>A | CA229326138 | ZPR1 | c.*640C>T (n.*640C>T) c.1799C>T c.1932C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778285G= | CA2002733970 | ZPR1 | c.*640C= (n.*640C=) c.1799C= c.1932C= | |
11 | g.116778285G>T | CA2616086712 | ZPR1 | c.*640C>A (n.*640C>A) c.1799C>A c.1932C>A | gnomAD v4 |
11 | g.116778286C>A | CA2616086714 | ZPR1 | c.*639G>T (n.*639G>T) c.1798G>T c.1931G>T | gnomAD v4 |
11 | g.116778286C>T | CA2616086716 | ZPR1 | c.*639G>A (n.*639G>A) c.1798G>A c.1931G>A | gnomAD v4 |
11 | g.116778289A>G | CA2831700802 | ZPR1 | c.*636T>C (n.*636T>C) c.1795T>C c.1928T>C | |
11 | g.116778290A= | CA2002733971 | ZPR1 | c.*635T= (n.*635T=) c.1794T= c.1927T= | |
11 | g.116778290A>C | CA229326142 | ZPR1 | c.*635T>G (n.*635T>G) c.1794T>G c.1927T>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778295G>A | CA942579028 | ZPR1 | c.*630C>T (n.*630C>T) c.1789C>T c.1922C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778295G>C | CA2002733973 | ZPR1 | c.*630C>G (n.*630C>G) c.1789C>G c.1922C>G | dbSNP |
11 | g.116778295G= | CA2002733972 | ZPR1 | c.*630C= (n.*630C=) c.1789C= c.1922C= | |
11 | g.116778297T>C | CA2616086717 | ZPR1 | c.*628A>G (n.*628A>G) c.1787A>G c.1920A>G | gnomAD v4 |
11 | g.116778297_116778301delinsTAAGC | CA2002733974 | ZPR1 | c.*624_*628delinsGCTTA (n.*624_*628delinsGCTTA) c.1783_1787delinsGCTTA c.1916_1920delinsGCTTA | |
11 | g.116778303_116778306del | CA672168291 | ZPR1 | c.*624_*627del (n.*624_*627del) c.1783_1786del c.1916_1919del | dbSNP |
11 | g.116778300G>A | CA672168294 | ZPR1 | c.*625C>T (n.*625C>T) c.1784C>T c.1917C>T | dbSNP |
11 | g.116778300G= | CA2002733975 | ZPR1 | c.*625C= (n.*625C=) c.1784C= c.1917C= | |
11 | g.116778305C>A | CA2002733977 | ZPR1 | c.*620G>T (n.*620G>T) c.1779G>T c.1912G>T | dbSNP gnomAD v4 |
11 | g.116778305C= | CA2002733976 | ZPR1 | c.*620G= (n.*620G=) c.1779G= c.1912G= | |
11 | g.116778308C>A | CA2616086723 | ZPR1 | c.*617G>T (n.*617G>T) c.1776G>T c.1909G>T | gnomAD v4 |
11 | g.116778309T>A | CA2793763962 | ZPR1 | c.*616A>T (n.*616A>T) c.1775A>T c.1908A>T | |
11 | g.116778309T>C | CA2616086724 | ZPR1 | c.*616A>G (n.*616A>G) c.1775A>G c.1908A>G | gnomAD v4 |
11 | g.116778310G>T | CA2616086725 | ZPR1 | c.*615C>A (n.*615C>A) c.1774C>A c.1907C>A | gnomAD v4 |
11 | g.116778313G>A | CA942579029 | ZPR1 | c.*612C>T (n.*612C>T) c.1771C>T c.1904C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778313G= | CA2002733978 | ZPR1 | c.*612C= (n.*612C=) c.1771C= c.1904C= | |
11 | g.116778315A= | CA2002733979 | ZPR1 | c.*610T= (n.*610T=) c.1769T= c.1902T= | |
11 | g.116778315A>C | CA2002733980 | ZPR1 | c.*610T>G (n.*610T>G) c.1769T>G c.1902T>G | dbSNP |
11 | g.116778315A>G | CA2616086727 | ZPR1 | c.*610T>C (n.*610T>C) c.1769T>C c.1902T>C | gnomAD v4 |
11 | g.116778317G>C | CA2616086729 | ZPR1 | c.*608C>G (n.*608C>G) c.1767C>G c.1900C>G | gnomAD v4 |
11 | g.116778319A>C | CA2616086732 | ZPR1 | c.*606T>G (n.*606T>G) c.1765T>G c.1898T>G | gnomAD v4 |
11 | g.116778320T>C | CA2560547197 | ZPR1 | c.*605A>G (n.*605A>G) c.1764A>G c.1897A>G | |
11 | g.116778321G>T | CA2616086733 | ZPR1 | c.*604C>A (n.*604C>A) c.1763C>A c.1896C>A | gnomAD v4 |
11 | g.116778322A>C | CA2725023120 | ZPR1 | c.*603T>G (n.*603T>G) c.1762T>G c.1895T>G | dbSNP |
11 | g.116778323A= | CA2002733981 | ZPR1 | c.*602T= (n.*602T=) c.1761T= c.1894T= | |
11 | g.116778323A>C | CA229326147 | ZPR1 | c.*602T>G (n.*602T>G) c.1761T>G c.1894T>G | dbSNP |
11 | g.116778324T>G | CA2793763963 | ZPR1 | c.*601A>C (n.*601A>C) c.1760A>C c.1893A>C | |
11 | g.116778327A>G | CA2616086734 | ZPR1 | c.*598T>C (n.*598T>C) c.1757T>C c.1890T>C | gnomAD v4 |
11 | g.116778328A>G | CA2793763964 | ZPR1 | c.*597T>C (n.*597T>C) c.1756T>C c.1889T>C | |
11 | g.116778329T>C | CA229326152 | ZPR1 | c.*596A>G (n.*596A>G) c.1755A>G c.1888A>G | dbSNP |
11 | g.116778329T= | CA2002733982 | ZPR1 | c.*596A= (n.*596A=) c.1755A= c.1888A= | |
11 | g.116778330G>A | CA2616086735 | ZPR1 | c.*595C>T (n.*595C>T) c.1754C>T c.1887C>T | gnomAD v4 |
11 | g.116778331C>A | CA2616086737 | ZPR1 | c.*594G>T (n.*594G>T) c.1753G>T c.1886G>T | gnomAD v4 |
11 | g.116778331C= | CA2002733983 | ZPR1 | c.*594G= (n.*594G=) c.1753G= c.1886G= | |
11 | g.116778331C>T | CA2002733984 | ZPR1 | c.*594G>A (n.*594G>A) c.1753G>A c.1886G>A | dbSNP gnomAD v4 |
11 | g.116778332C>A | CA2616086738 | ZPR1 | c.*593G>T (n.*593G>T) c.1752G>T c.1885G>T | gnomAD v4 |
11 | g.116778332C= | CA2002733985 | ZPR1 | c.*593G= (n.*593G=) c.1752G= c.1885G= | |
11 | g.116778332C>T | CA229326154 | ZPR1 | c.*593G>A (n.*593G>A) c.1752G>A c.1885G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778333A>G | CA2616086739 | ZPR1 | c.*592T>C (n.*592T>C) c.1751T>C c.1884T>C | gnomAD v4 |
11 | g.116778334G>A | CA229326155 | ZPR1 | c.*591C>T (n.*591C>T) c.1750C>T c.1883C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778334G= | CA2002733986 | ZPR1 | c.*591C= (n.*591C=) c.1750C= c.1883C= | |
11 | g.116778334G>T | CA2616086743 | ZPR1 | c.*591C>A (n.*591C>A) c.1750C>A c.1883C>A | gnomAD v4 |
11 | g.116778335C>A | CA2616086769 | ZPR1 | c.*590G>T (n.*590G>T) c.1749G>T c.1882G>T | gnomAD v4 |
11 | g.116778335C>T | CA2616086770 | ZPR1 | c.*590G>A (n.*590G>A) c.1749G>A c.1882G>A | gnomAD v4 |
11 | g.116778337G>T | CA2616086772 | ZPR1 | c.*588C>A (n.*588C>A) c.1747C>A c.1880C>A | gnomAD v4 |
11 | g.116778338C>T | CA2616086773 | ZPR1 | c.*587G>A (n.*587G>A) c.1746G>A c.1879G>A | gnomAD v4 |
11 | g.116778340A= | CA2002733988 | ZPR1 | c.*585T= (n.*585T=) c.1744T= c.1877T= | |
11 | g.116778340A>G | CA672168296 | ZPR1 | c.*585T>C (n.*585T>C) c.1744T>C c.1877T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778341T>C | CA2616086774 | ZPR1 | c.*584A>G (n.*584A>G) c.1743A>G c.1876A>G | gnomAD v4 |
11 | g.116778342C>T | CA2616086775 | ZPR1 | c.*583G>A (n.*583G>A) c.1742G>A c.1875G>A | gnomAD v4 |
11 | g.116778344C>A | CA2616086776 | ZPR1 | c.*581G>T (n.*581G>T) c.1740G>T c.1873G>T | gnomAD v4 |
11 | g.116778344C>T | CA2616086777 | ZPR1 | c.*581G>A (n.*581G>A) c.1740G>A c.1873G>A | gnomAD v4 |
11 | g.116778345C>T | CA2616086779 | ZPR1 | c.*580G>A (n.*580G>A) c.1739G>A c.1872G>A | gnomAD v4 |
11 | g.116778347A= | CA2002733991 | ZPR1 | c.*578T= (n.*578T=) c.1737T= c.1870T= | |
11 | g.116778347A>G | CA2002733990 | ZPR1 | c.*578T>C (n.*578T>C) c.1737T>C c.1870T>C | dbSNP |
11 | g.116778347A>T | CA229326161 | ZPR1 | c.*578T>A (n.*578T>A) c.1737T>A c.1870T>A | dbSNP |
11 | g.116778349T>G | CA942579035 | ZPR1 | c.*576A>C (n.*576A>C) c.1735A>C c.1868A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778349T= | CA2002733992 | ZPR1 | c.*576A= (n.*576A=) c.1735A= c.1868A= | |
11 | g.116778351A= | CA2002733993 | ZPR1 | c.*574T= (n.*574T=) c.1733T= c.1866T= | |
11 | g.116778351A>G | CA942579036 | ZPR1 | c.*574T>C (n.*574T>C) c.1733T>C c.1866T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778352C>A | CA2616086782 | ZPR1 | c.*573G>T (n.*573G>T) c.1732G>T c.1865G>T | gnomAD v4 |
11 | g.116778352C= | CA2002733994 | ZPR1 | c.*573G= (n.*573G=) c.1732G= c.1865G= | |
11 | g.116778352C>T | CA229326168 | ZPR1 | c.*573G>A (n.*573G>A) c.1732G>A c.1865G>A | dbSNP gnomAD v4 |
11 | g.116778353A>G | CA2616086784 | ZPR1 | c.*572T>C (n.*572T>C) c.1731T>C c.1864T>C | gnomAD v4 |
11 | g.116778356A>C | CA2616086786 | ZPR1 | c.*569T>G (n.*569T>G) c.1728T>G c.1861T>G | gnomAD v4 |
11 | g.116778357G>C | CA2002733996 | ZPR1 | c.*568C>G (n.*568C>G) c.1727C>G c.1860C>G | dbSNP |
11 | g.116778357G= | CA2002733995 | ZPR1 | c.*568C= (n.*568C=) c.1727C= c.1860C= | |
11 | g.116778357G>T | CA2616086789 | ZPR1 | c.*568C>A (n.*568C>A) c.1727C>A c.1860C>A | gnomAD v4 |
11 | g.116778359T= | CA2002733997 | ZPR1 | c.*566A= (n.*566A=) c.1725A= c.1858A= | |
11 | g.116778360dup | CA2002733998 | ZPR1 | c.*565dup (n.*565dup) c.1724dup c.1857dup | dbSNP |
11 | g.116778361C>T | CA2616086791 | ZPR1 | c.*564G>A (n.*564G>A) c.1723G>A c.1856G>A | gnomAD v4 |
11 | g.116778363C= | CA2002733999 | ZPR1 | c.*562G= (n.*562G=) c.1721G= c.1854G= | |
11 | g.116778363C>T | CA229326184 | ZPR1 | c.*562G>A (n.*562G>A) c.1721G>A c.1854G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778364G>A | CA229326190 | ZPR1 | c.*561C>T (n.*561C>T) c.1720C>T c.1853C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778364G= | CA2002734001 | ZPR1 | c.*561C= (n.*561C=) c.1720C= c.1853C= | |
11 | g.116778364G>T | CA2616086796 | ZPR1 | c.*561C>A (n.*561C>A) c.1720C>A c.1853C>A | gnomAD v4 |
11 | g.116778365G>T | CA2616086800 | ZPR1 | c.*560C>A (n.*560C>A) c.1719C>A c.1852C>A | gnomAD v4 |
11 | g.116778366G>T | CA2616086802 | ZPR1 | c.*559C>A (n.*559C>A) c.1718C>A c.1851C>A | gnomAD v4 |