Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116778472C>A | CA2616086919 | ZPR1 | c.*453G>T (n.*453G>T) c.1612G>T c.1745G>T | gnomAD v4 |
11 | g.116778472C>T | CA2616086921 | ZPR1 | c.*453G>A (n.*453G>A) c.1612G>A c.1745G>A | gnomAD v4 |
11 | g.116778473T>A | CA2616086924 | ZPR1 | c.*452A>T (n.*452A>T) c.1611A>T c.1744A>T | gnomAD v4 |
11 | g.116778474del | CA2616086923 | ZPR1 | c.*452del (n.*452del) c.1611del c.1744del | gnomAD v4 |
11 | g.116778474T>C | CA672168347 | ZPR1 | c.*451A>G (n.*451A>G) c.1610A>G c.1743A>G | dbSNP |
11 | g.116778474T= | CA2002734049 | ZPR1 | c.*451A= (n.*451A=) c.1610A= c.1743A= | |
11 | g.116778475C>A | CA2616086926 | ZPR1 | c.*450G>T (n.*450G>T) c.1609G>T c.1742G>T | gnomAD v4 |
11 | g.116778477C>A | CA2616086928 | ZPR1 | c.*448G>T (n.*448G>T) c.1607G>T c.1740G>T | gnomAD v4 |
11 | g.116778479T>G | CA2616086930 | ZPR1 | c.*446A>C (n.*446A>C) c.1605A>C c.1738A>C | gnomAD v4 |
11 | g.116778480G>C | CA672168349 | ZPR1 | c.*445C>G (n.*445C>G) c.1604C>G c.1737C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778480G= | CA2002734050 | ZPR1 | c.*445C= (n.*445C=) c.1604C= c.1737C= | |
11 | g.116778480G>T | CA2616086933 | ZPR1 | c.*445C>A (n.*445C>A) c.1604C>A c.1737C>A | gnomAD v4 |
11 | g.116778482G>T | CA2793763973 | ZPR1 | c.*443C>A (n.*443C>A) c.1602C>A c.1735C>A | |
11 | g.116778483C>A | CA2616086936 | ZPR1 | c.*442G>T (n.*442G>T) c.1601G>T c.1734G>T | gnomAD v4 |
11 | g.116778483C>T | CA2616086937 | ZPR1 | c.*442G>A (n.*442G>A) c.1601G>A c.1734G>A | gnomAD v4 |
11 | g.116778485G>A | CA672168352 | ZPR1 | c.*440C>T (n.*440C>T) c.1599C>T c.1732C>T | dbSNP gnomAD v4 |
11 | g.116778485G= | CA2002734051 | ZPR1 | c.*440C= (n.*440C=) c.1599C= c.1732C= | |
11 | g.116778485G>T | CA601828481 | ZPR1 | c.*440C>A (n.*440C>A) c.1599C>A c.1732C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778486G>A | CA2616086943 | ZPR1 | c.*439C>T (n.*439C>T) c.1598C>T c.1731C>T | gnomAD v4 |
11 | g.116778486G>C | CA2002734053 | ZPR1 | c.*439C>G (n.*439C>G) c.1598C>G c.1731C>G | dbSNP |
11 | g.116778486G= | CA2002734052 | ZPR1 | c.*439C= (n.*439C=) c.1598C= c.1731C= | |
11 | g.116778490C>A | CA2002734055 | ZPR1 | c.*435G>T (n.*435G>T) c.1594G>T c.1727G>T | dbSNP gnomAD v4 |
11 | g.116778490C= | CA2002734054 | ZPR1 | c.*435G= (n.*435G=) c.1594G= c.1727G= | |
11 | g.116778490C>T | CA672168357 | ZPR1 | c.*435G>A (n.*435G>A) c.1594G>A c.1727G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778491G>A | CA229326252 | ZPR1 | c.*434C>T (n.*434C>T) c.1593C>T c.1726C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778491G>C | CA2724947494 | ZPR1 | c.*434C>G (n.*434C>G) c.1593C>G c.1726C>G | dbSNP |
11 | g.116778491G= | CA2002734059 | ZPR1 | c.*434C= (n.*434C=) c.1593C= c.1726C= | |
11 | g.116778491G>T | CA2616086953 | ZPR1 | c.*434C>A (n.*434C>A) c.1593C>A c.1726C>A | gnomAD v4 |
11 | g.116778492G>A | CA2616086957 | ZPR1 | c.*433C>T (n.*433C>T) c.1592C>T c.1725C>T | gnomAD v4 |
11 | g.116778493T>A | CA942579069 | ZPR1 | c.*432A>T (n.*432A>T) c.1591A>T c.1724A>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778493T= | CA2002734062 | ZPR1 | c.*432A= (n.*432A=) c.1591A= c.1724A= | |
11 | g.116778494C>A | CA2002734064 | ZPR1 | c.*431G>T (n.*431G>T) c.1590G>T c.1723G>T | dbSNP gnomAD v4 |
11 | g.116778494C= | CA2002734063 | ZPR1 | c.*431G= (n.*431G=) c.1590G= c.1723G= | |
11 | g.116778495T>C | CA2616086959 | ZPR1 | c.*430A>G (n.*430A>G) c.1589A>G c.1722A>G | gnomAD v4 |
11 | g.116778497C>A | CA2616086962 | ZPR1 | c.*428G>T (n.*428G>T) c.1587G>T c.1720G>T | gnomAD v4 |
11 | g.116778497C= | CA2002734065 | ZPR1 | c.*428G= (n.*428G=) c.1587G= c.1720G= | |
11 | g.116778497C>T | CA229326260 | ZPR1 | c.*428G>A (n.*428G>A) c.1587G>A c.1720G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778498C>A | CA2793763974 | ZPR1 | c.*427G>T (n.*427G>T) c.1586G>T c.1719G>T | |
11 | g.116778498C= | CA2002734066 | ZPR1 | c.*427G= (n.*427G=) c.1586G= c.1719G= | |
11 | g.116778498C>G | CA942579076 | ZPR1 | c.*427G>C (n.*427G>C) c.1586G>C c.1719G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778498C>T | CA2002734067 | ZPR1 | c.*427G>A (n.*427G>A) c.1586G>A c.1719G>A | dbSNP gnomAD v4 |
11 | g.116778499C>G | CA2793763975 | ZPR1 | c.*426G>C (n.*426G>C) c.1585G>C c.1718G>C | |
11 | g.116778500T>C | CA2616086968 | ZPR1 | c.*425A>G (n.*425A>G) c.1584A>G c.1717A>G | gnomAD v4 |
11 | g.116778500_116778501delinsTC | CA2002734068 | ZPR1 | c.*424_*425delinsGA (n.*424_*425delinsGA) c.1583_1584delinsGA c.1716_1717delinsGA | |
11 | g.116778501del | CA2002734069 | ZPR1 | c.*424del (n.*424del) c.1583del c.1716del | dbSNP |
11 | g.116778502A>T | CA2616086970 | ZPR1 | c.*423T>A (n.*423T>A) c.1582T>A c.1715T>A | gnomAD v4 |
11 | g.116778503G>A | CA2616086973 | ZPR1 | c.*422C>T (n.*422C>T) c.1581C>T c.1714C>T | gnomAD v4 |
11 | g.116778503G>T | CA2616086972 | ZPR1 | c.*422C>A (n.*422C>A) c.1581C>A c.1714C>A | gnomAD v4 |
11 | g.116778507A>G | CA2616086976 | ZPR1 | c.*418T>C (n.*418T>C) c.1577T>C c.1710T>C | gnomAD v4 |
11 | g.116778509T>C | CA672168363 | ZPR1 | c.*416A>G (n.*416A>G) c.1575A>G c.1708A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778509T= | CA2002734070 | ZPR1 | c.*416A= (n.*416A=) c.1575A= c.1708A= | |
11 | g.116778511C>A | CA2616086981 | ZPR1 | c.*414G>T (n.*414G>T) c.1573G>T c.1706G>T | gnomAD v4 |
11 | g.116778513T>G | CA2616086983 | ZPR1 | c.*412A>C (n.*412A>C) c.1571A>C c.1704A>C | gnomAD v4 |
11 | g.116778515C>A | CA2616086986 | ZPR1 | c.*410G>T (n.*410G>T) c.1569G>T c.1702G>T | gnomAD v4 |
11 | g.116778517T>C | CA2616086987 | ZPR1 | c.*408A>G (n.*408A>G) c.1567A>G c.1700A>G | gnomAD v4 |
11 | g.116778518G>A | CA2002734072 | ZPR1 | c.*407C>T (n.*407C>T) c.1566C>T c.1699C>T | dbSNP gnomAD v4 |
11 | g.116778518G= | CA2002734071 | ZPR1 | c.*407C= (n.*407C=) c.1566C= c.1699C= | |
11 | g.116778518G>T | CA2616086991 | ZPR1 | c.*407C>A (n.*407C>A) c.1566C>A c.1699C>A | gnomAD v4 |
11 | g.116778521C>A | CA2793763976 | ZPR1 | c.*404G>T (n.*404G>T) c.1563G>T c.1696G>T | |
11 | g.116778525G>C | CA2793763977 | ZPR1 | c.*400C>G (n.*400C>G) c.1559C>G c.1692C>G | |
11 | g.116778527C>A | CA2556894098 | ZPR1 | c.*398G>T (n.*398G>T) c.1557G>T c.1690G>T | gnomAD v4 |
11 | g.116778527C>T | CA2616086996 | ZPR1 | c.*398G>A (n.*398G>A) c.1557G>A c.1690G>A | gnomAD v4 |
11 | g.116778528A>G | CA2793763978 | ZPR1 | c.*397T>C (n.*397T>C) c.1556T>C c.1689T>C | |
11 | g.116778528A>T | CA2616086998 | ZPR1 | c.*397T>A (n.*397T>A) c.1556T>A c.1689T>A | gnomAD v4 |
11 | g.116778529G>A | CA672168367 | ZPR1 | c.*396C>T (n.*396C>T) c.1555C>T c.1688C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778529G= | CA2002734073 | ZPR1 | c.*396C= (n.*396C=) c.1555C= c.1688C= | |
11 | g.116778529G>T | CA2616087002 | ZPR1 | c.*396C>A (n.*396C>A) c.1555C>A c.1688C>A | gnomAD v4 |
11 | g.116778532T>C | CA2725023146 | ZPR1 | c.*393A>G (n.*393A>G) c.1552A>G c.1685A>G | dbSNP |
11 | g.116778533T>G | CA2616087004 | ZPR1 | c.*392A>C (n.*392A>C) c.1551A>C c.1684A>C | gnomAD v4 |
11 | g.116778534T>C | CA2616087006 | ZPR1 | c.*391A>G (n.*391A>G) c.1550A>G c.1683A>G | gnomAD v4 |
11 | g.116778534T>G | CA2616087005 | ZPR1 | c.*391A>C (n.*391A>C) c.1550A>C c.1683A>C | gnomAD v4 |
11 | g.116778535T>C | CA229326267 | ZPR1 | c.*390A>G (n.*390A>G) c.1549A>G c.1682A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778535T= | CA2002734074 | ZPR1 | c.*390A= (n.*390A=) c.1549A= c.1682A= | |
11 | g.116778536A>G | CA2616087007 | ZPR1 | c.*389T>C (n.*389T>C) c.1548T>C c.1681T>C | gnomAD v4 |
11 | g.116778536A>T | CA2616087008 | ZPR1 | c.*389T>A (n.*389T>A) c.1548T>A c.1681T>A | gnomAD v4 |
11 | g.116778536dup | CA2002734075 | ZPR1 | c.*389dup (n.*389dup) c.1548dup c.1681dup | dbSNP gnomAD v4 |
11 | g.116778538A= | CA2002734076 | ZPR1 | c.*387T= (n.*387T=) c.1546T= c.1679T= | |
11 | g.116778538A>G | CA601828482 | ZPR1 | c.*387T>C (n.*387T>C) c.1546T>C c.1679T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778541_116778544del | CA2616087011 | ZPR1 | c.*382_*385del (n.*382_*385del) c.1541_1544del c.1674_1677del | gnomAD v4 |
11 | g.116778541C>A | CA2616087013 | ZPR1 | c.*384G>T (n.*384G>T) c.1543G>T c.1676G>T | gnomAD v4 |
11 | g.116778541C>G | CA2616087015 | ZPR1 | c.*384G>C (n.*384G>C) c.1543G>C c.1676G>C | gnomAD v4 |
11 | g.116778542T>C | CA2616087017 | ZPR1 | c.*383A>G (n.*383A>G) c.1542A>G c.1675A>G | gnomAD v4 |
11 | g.116778543C>A | CA2616087022 | ZPR1 | c.*382G>T (n.*382G>T) c.1541G>T c.1674G>T | gnomAD v4 |
11 | g.116778543C= | CA2002734077 | ZPR1 | c.*382G= (n.*382G=) c.1541G= c.1674G= | |
11 | g.116778543C>G | CA229326273 | ZPR1 | c.*382G>C (n.*382G>C) c.1541G>C c.1674G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778548C>A | CA2616087026 | ZPR1 | c.*377G>T (n.*377G>T) c.1536G>T c.1669G>T | gnomAD v4 |
11 | g.116778549C>A | CA2616087027 | ZPR1 | c.*376G>T (n.*376G>T) c.1535G>T c.1668G>T | gnomAD v4 |
11 | g.116778549C>T | CA2616087028 | ZPR1 | c.*376G>A (n.*376G>A) c.1535G>A c.1668G>A | gnomAD v4 |
11 | g.116778551A>G | CA2616087029 | ZPR1 | c.*374T>C (n.*374T>C) c.1533T>C c.1666T>C | gnomAD v4 |
11 | g.116778551A>T | CA2616087031 | ZPR1 | c.*374T>A (n.*374T>A) c.1533T>A c.1666T>A | gnomAD v4 |
11 | g.116778552C>A | CA2616087034 | ZPR1 | c.*373G>T (n.*373G>T) c.1532G>T c.1665G>T | dbSNP gnomAD v4 |
11 | g.116778555C>A | CA2002734079 | ZPR1 | c.*370G>T (n.*370G>T) c.1529G>T c.1662G>T | dbSNP gnomAD v4 |
11 | g.116778555C= | CA2002734078 | ZPR1 | c.*370G= (n.*370G=) c.1529G= c.1662G= | |
11 | g.116778555C>G | CA2002734080 | ZPR1 | c.*370G>C (n.*370G>C) c.1529G>C c.1662G>C | dbSNP |
11 | g.116778555C>T | CA2002734081 | ZPR1 | c.*370G>A (n.*370G>A) c.1529G>A c.1662G>A | dbSNP gnomAD v4 |
11 | g.116778557A= | CA2002734083 | ZPR1 | c.*368T= (n.*368T=) c.1527T= c.1660T= | |
11 | g.116778557A>G | CA942579091 | ZPR1 | c.*368T>C (n.*368T>C) c.1527T>C c.1660T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116778558A>G | CA2616087040 | ZPR1 | c.*367T>C (n.*367T>C) c.1526T>C c.1659T>C | gnomAD v4 |
11 | g.116778562C>A | CA2616087043 | ZPR1 | c.*363G>T (n.*363G>T) c.1522G>T c.1655G>T n.3071G>T | gnomAD v4 |
11 | g.116778562C= | CA2002734085 | ZPR1 | c.*363G= (n.*363G=) c.1522G= c.1655G= n.3071G= | |
11 | g.116778562C>G | CA229326274 | ZPR1 | c.*363G>C (n.*363G>C) c.1522G>C c.1655G>C n.3071G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778563A>G | CA2616087045 | ZPR1 | c.*362T>C (n.*362T>C) c.1521T>C c.1654T>C n.3070T>C | gnomAD v4 |
11 | g.116778564G>T | CA2616087046 | ZPR1 | c.*361C>A (n.*361C>A) c.1520C>A c.1653C>A n.3069C>A | gnomAD v4 |
11 | g.116778565G>A | CA229326275 | ZPR1 | c.*360C>T (n.*360C>T) c.1519C>T c.1652C>T n.3068C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116778565G= | CA2002734089 | ZPR1 | c.*360C= (n.*360C=) c.1519C= c.1652C= n.3068C= | |
11 | g.116778565G>T | CA2793763979 | ZPR1 | c.*360C>A (n.*360C>A) c.1519C>A c.1652C>A n.3068C>A | |
11 | g.116778566T>C | CA2616087050 | ZPR1 | c.*359A>G (n.*359A>G) c.1518A>G c.1651A>G n.3067A>G | gnomAD v4 |
11 | g.116778566_116778567delinsTG | CA2002734090 | ZPR1 | c.*358_*359delinsCA (n.*358_*359delinsCA) c.1517_1518delinsCA c.1650_1651delinsCA n.3066_3067delinsCA | |
11 | g.116778567del | CA672168375 | ZPR1 | c.*358del (n.*358del) c.1517del c.1650del n.3066del | dbSNP |
11 | g.116778567G>A | CA2002734092 | ZPR1 | c.*358C>T (n.*358C>T) c.1517C>T c.1650C>T n.3066C>T | dbSNP gnomAD v4 |
11 | g.116778567G= | CA2002734091 | ZPR1 | c.*358C= (n.*358C=) c.1517C= c.1650C= n.3066C= | |
11 | g.116778571C>A | CA2616087053 | ZPR1 | c.*354G>T (n.*354G>T) c.1513G>T c.1646G>T n.3062G>T | gnomAD v4 |