| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.8737163T>A | CA16609545 | PLCB1 | c.2179T>A (p.Trp727Arg) n.2250T>A n.2043T>A c.1876T>A (p.Trp626Arg) c.136T>A (p.Trp46Arg) c.1401T>A n.1331T>A c.1939T>A (p.Trp647Arg) c.1963T>A (p.Trp655Arg) c.406T>A (p.Trp136Arg) | ClinVar dbSNP |
| 20 | g.8737163T>C | CA408207095 | PLCB1 | c.2179T>C (p.Trp727Arg) n.2250T>C n.2043T>C c.1876T>C (p.Trp626Arg) c.136T>C (p.Trp46Arg) c.1401T>C n.1331T>C c.1939T>C (p.Trp647Arg) c.1963T>C (p.Trp655Arg) c.406T>C (p.Trp136Arg) | |
| 20 | g.8737163T>G | CA408207097 | PLCB1 | c.2179T>G (p.Trp727Gly) n.2250T>G n.2043T>G c.1876T>G (p.Trp626Gly) c.136T>G (p.Trp46Gly) c.1401T>G n.1331T>G c.1939T>G (p.Trp647Gly) c.1963T>G (p.Trp655Gly) c.406T>G (p.Trp136Gly) | |
| 20 | g.8737163T= | CA2349026959 | PLCB1 | c.2179T= (p.Trp727=) n.2250T= n.2043T= c.1876T= (p.Trp626=) c.136T= (p.Trp46=) c.1401T= n.1331T= c.1939T= (p.Trp647=) c.1963T= (p.Trp655=) c.406T= (p.Trp136=) | |
| 20 | g.8737164G>A | CA408207099 | PLCB1 | c.2180G>A (p.Trp727Ter) n.2251G>A n.2044G>A c.1877G>A (p.Trp626Ter) c.137G>A (p.Trp46Ter) c.1402G>A n.1332G>A c.1940G>A (p.Trp647Ter) c.1964G>A (p.Trp655Ter) c.407G>A (p.Trp136Ter) | |
| 20 | g.8737164G>C | CA408207101 | PLCB1 | c.2180G>C (p.Trp727Ser) n.2251G>C n.2044G>C c.1877G>C (p.Trp626Ser) c.137G>C (p.Trp46Ser) c.1402G>C n.1332G>C c.1940G>C (p.Trp647Ser) c.1964G>C (p.Trp655Ser) c.407G>C (p.Trp136Ser) | |
| 20 | g.8737164G>T | CA408207103 | PLCB1 | c.2180G>T (p.Trp727Leu) n.2251G>T n.2044G>T c.1877G>T (p.Trp626Leu) c.137G>T (p.Trp46Leu) c.1402G>T n.1332G>T c.1940G>T (p.Trp647Leu) c.1964G>T (p.Trp655Leu) c.407G>T (p.Trp136Leu) | |
| 20 | g.8737165G>A | CA408207109 | PLCB1 | c.2181G>A (p.Trp727Ter) n.2252G>A n.2045G>A c.1878G>A (p.Trp626Ter) c.138G>A (p.Trp46Ter) c.1403G>A n.1333G>A c.1941G>A (p.Trp647Ter) c.1965G>A (p.Trp655Ter) c.408G>A (p.Trp136Ter) | |
| 20 | g.8737165G>C | CA408207107 | PLCB1 | c.2181G>C (p.Trp727Cys) n.2252G>C n.2045G>C c.1878G>C (p.Trp626Cys) c.138G>C (p.Trp46Cys) c.1403G>C n.1333G>C c.1941G>C (p.Trp647Cys) c.1965G>C (p.Trp655Cys) c.408G>C (p.Trp136Cys) | |
| 20 | g.8737165G>T | CA408207105 | PLCB1 | c.2181G>T (p.Trp727Cys) n.2252G>T n.2045G>T c.1878G>T (p.Trp626Cys) c.138G>T (p.Trp46Cys) c.1403G>T n.1333G>T c.1941G>T (p.Trp647Cys) c.1965G>T (p.Trp655Cys) c.408G>T (p.Trp136Cys) | |
| 20 | g.8737166G>A | CA408207110 | PLCB1 | c.2182G>A (p.Glu728Lys) n.2253G>A n.2046G>A c.1879G>A (p.Glu627Lys) c.139G>A (p.Glu47Lys) c.1404G>A n.1334G>A c.1942G>A (p.Glu648Lys) c.1966G>A (p.Glu656Lys) c.409G>A (p.Glu137Lys) | COSMIC COSMIC |
| 20 | g.8737166G>C | CA408207112 | PLCB1 | c.2182G>C (p.Glu728Gln) n.2253G>C n.2046G>C c.1879G>C (p.Glu627Gln) c.139G>C (p.Glu47Gln) c.1404G>C n.1334G>C c.1942G>C (p.Glu648Gln) c.1966G>C (p.Glu656Gln) c.409G>C (p.Glu137Gln) | |
| 20 | g.8737166G>T | CA408207114 | PLCB1 | c.2182G>T (p.Glu728Ter) n.2253G>T n.2046G>T c.1879G>T (p.Glu627Ter) c.139G>T (p.Glu47Ter) c.1404G>T n.1334G>T c.1942G>T (p.Glu648Ter) c.1966G>T (p.Glu656Ter) c.409G>T (p.Glu137Ter) | |
| 20 | g.8737167A>C | CA408207116 | PLCB1 | c.2183A>C (p.Glu728Ala) n.2254A>C n.2047A>C c.1880A>C (p.Glu627Ala) c.140A>C (p.Glu47Ala) c.1405A>C n.1335A>C c.1943A>C (p.Glu648Ala) c.1967A>C (p.Glu656Ala) c.410A>C (p.Glu137Ala) | |
| 20 | g.8737167A>G | CA408207117 | PLCB1 | c.2183A>G (p.Glu728Gly) n.2254A>G n.2047A>G c.1880A>G (p.Glu627Gly) c.140A>G (p.Glu47Gly) c.1405A>G n.1335A>G c.1943A>G (p.Glu648Gly) c.1967A>G (p.Glu656Gly) c.410A>G (p.Glu137Gly) | COSMIC COSMIC COSMIC |
| 20 | g.8737167A>T | CA408207119 | PLCB1 | c.2183A>T (p.Glu728Val) n.2254A>T n.2047A>T c.1880A>T (p.Glu627Val) c.140A>T (p.Glu47Val) c.1405A>T n.1335A>T c.1943A>T (p.Glu648Val) c.1967A>T (p.Glu656Val) c.410A>T (p.Glu137Val) | COSMIC COSMIC COSMIC |
| 20 | g.8737168A>C | CA408207120 | PLCB1 | c.2184A>C (p.Glu728Asp) n.2255A>C n.2048A>C c.1881A>C (p.Glu627Asp) c.141A>C (p.Glu47Asp) c.1406A>C n.1336A>C c.1944A>C (p.Glu648Asp) c.1968A>C (p.Glu656Asp) c.411A>C (p.Glu137Asp) | |
| 20 | g.8737168A>G | CA509639272 | PLCB1 | c.2184A>G (p.Glu728=) n.2255A>G n.2048A>G c.1881A>G (p.Glu627=) c.141A>G (p.Glu47=) c.1406A>G n.1336A>G c.1944A>G (p.Glu648=) c.1968A>G (p.Glu656=) c.411A>G (p.Glu137=) | dbSNP |
| 20 | g.8737168A>T | CA408207122 | PLCB1 | c.2184A>T (p.Glu728Asp) n.2255A>T n.2048A>T c.1881A>T (p.Glu627Asp) c.141A>T (p.Glu47Asp) c.1406A>T n.1336A>T c.1944A>T (p.Glu648Asp) c.1968A>T (p.Glu656Asp) c.411A>T (p.Glu137Asp) | |
| 20 | g.8737169G>A | CA311261185 | PLCB1 | c.2185G>A (p.Glu729Lys) n.2256G>A n.2049G>A c.1882G>A (p.Glu628Lys) c.142G>A (p.Glu48Lys) c.1407G>A n.1337G>A c.1945G>A (p.Glu649Lys) c.1969G>A (p.Glu657Lys) c.412G>A (p.Glu138Lys) | dbSNP COSMIC COSMIC COSMIC |
| 20 | g.8737169G>C | CA408207125 | PLCB1 | c.2185G>C (p.Glu729Gln) n.2256G>C n.2049G>C c.1882G>C (p.Glu628Gln) c.142G>C (p.Glu48Gln) c.1407G>C n.1337G>C c.1945G>C (p.Glu649Gln) c.1969G>C (p.Glu657Gln) c.412G>C (p.Glu138Gln) | |
| 20 | g.8737169G= | CA2349026960 | PLCB1 | c.2185G= (p.Glu729=) n.2256G= n.2049G= c.1882G= (p.Glu628=) c.142G= (p.Glu48=) c.1407G= n.1337G= c.1945G= (p.Glu649=) c.1969G= (p.Glu657=) c.412G= (p.Glu138=) | |
| 20 | g.8737169G>T | CA408207126 | PLCB1 | c.2185G>T (p.Glu729Ter) n.2256G>T n.2049G>T c.1882G>T (p.Glu628Ter) c.142G>T (p.Glu48Ter) c.1407G>T n.1337G>T c.1945G>T (p.Glu649Ter) c.1969G>T (p.Glu657Ter) c.412G>T (p.Glu138Ter) | |
| 20 | g.8737170A>C | CA408207128 | PLCB1 | c.2186A>C (p.Glu729Ala) n.2257A>C n.2050A>C c.1883A>C (p.Glu628Ala) c.143A>C (p.Glu48Ala) c.1408A>C n.1338A>C c.1946A>C (p.Glu649Ala) c.1970A>C (p.Glu657Ala) c.413A>C (p.Glu138Ala) | |
| 20 | g.8737170A>G | CA408207130 | PLCB1 | c.2186A>G (p.Glu729Gly) n.2257A>G n.2050A>G c.1883A>G (p.Glu628Gly) c.143A>G (p.Glu48Gly) c.1408A>G n.1338A>G c.1946A>G (p.Glu649Gly) c.1970A>G (p.Glu657Gly) c.413A>G (p.Glu138Gly) | |
| 20 | g.8737170A>T | CA408207131 | PLCB1 | c.2186A>T (p.Glu729Val) n.2257A>T n.2050A>T c.1883A>T (p.Glu628Val) c.143A>T (p.Glu48Val) c.1408A>T n.1338A>T c.1946A>T (p.Glu649Val) c.1970A>T (p.Glu657Val) c.413A>T (p.Glu138Val) | |
| 20 | g.8737171A>C | CA408207133 | PLCB1 | c.2187A>C (p.Glu729Asp) n.2258A>C n.2051A>C c.1884A>C (p.Glu628Asp) c.144A>C (p.Glu48Asp) c.1409A>C n.1339A>C c.1947A>C (p.Glu649Asp) c.1971A>C (p.Glu657Asp) c.414A>C (p.Glu138Asp) | |
| 20 | g.8737171A>G | CA509639273 | PLCB1 | c.2187A>G (p.Glu729=) n.2258A>G n.2051A>G c.1884A>G (p.Glu628=) c.144A>G (p.Glu48=) c.1409A>G n.1339A>G c.1947A>G (p.Glu649=) c.1971A>G (p.Glu657=) c.414A>G (p.Glu138=) | |
| 20 | g.8737171A>T | CA408207134 | PLCB1 | c.2187A>T (p.Glu729Asp) n.2258A>T n.2051A>T c.1884A>T (p.Glu628Asp) c.144A>T (p.Glu48Asp) c.1409A>T n.1339A>T c.1947A>T (p.Glu649Asp) c.1971A>T (p.Glu657Asp) c.414A>T (p.Glu138Asp) | |
| 20 | g.8737172G>A | CA408207136 | PLCB1 | c.2188G>A (p.Glu730Lys) n.2259G>A n.2052G>A c.1885G>A (p.Glu629Lys) c.145G>A (p.Glu49Lys) c.1410G>A n.1340G>A c.1948G>A (p.Glu650Lys) c.1972G>A (p.Glu658Lys) c.415G>A (p.Glu139Lys) | |
| 20 | g.8737172G>C | CA408207137 | PLCB1 | c.2188G>C (p.Glu730Gln) n.2259G>C n.2052G>C c.1885G>C (p.Glu629Gln) c.145G>C (p.Glu49Gln) c.1410G>C n.1340G>C c.1948G>C (p.Glu650Gln) c.1972G>C (p.Glu658Gln) c.415G>C (p.Glu139Gln) | |
| 20 | g.8737172G>T | CA408207139 | PLCB1 | c.2188G>T (p.Glu730Ter) n.2259G>T n.2052G>T c.1885G>T (p.Glu629Ter) c.145G>T (p.Glu49Ter) c.1410G>T n.1340G>T c.1948G>T (p.Glu650Ter) c.1972G>T (p.Glu658Ter) c.415G>T (p.Glu139Ter) | |
| 20 | g.8737173A>C | CA408207141 | PLCB1 | c.2189A>C (p.Glu730Ala) n.2260A>C n.2053A>C c.1886A>C (p.Glu629Ala) c.146A>C (p.Glu49Ala) c.1411A>C n.1341A>C c.1949A>C (p.Glu650Ala) c.1973A>C (p.Glu658Ala) c.416A>C (p.Glu139Ala) | |
| 20 | g.8737173A>G | CA408207143 | PLCB1 | c.2189A>G (p.Glu730Gly) n.2260A>G n.2053A>G c.1886A>G (p.Glu629Gly) c.146A>G (p.Glu49Gly) c.1411A>G n.1341A>G c.1949A>G (p.Glu650Gly) c.1973A>G (p.Glu658Gly) c.416A>G (p.Glu139Gly) | |
| 20 | g.8737173A>T | CA408207144 | PLCB1 | c.2189A>T (p.Glu730Val) n.2260A>T n.2053A>T c.1886A>T (p.Glu629Val) c.146A>T (p.Glu49Val) c.1411A>T n.1341A>T c.1949A>T (p.Glu650Val) c.1973A>T (p.Glu658Val) c.416A>T (p.Glu139Val) | |
| 20 | g.8737174A= | CA2349026961 | PLCB1 | c.2190A= (p.Glu730=) n.2261A= n.2054A= c.1887A= (p.Glu629=) c.147A= (p.Glu49=) c.1412A= n.1342A= c.1950A= (p.Glu650=) c.1974A= (p.Glu658=) c.417A= (p.Glu139=) | |
| 20 | g.8737174A>C | CA408207147 | PLCB1 | c.2190A>C (p.Glu730Asp) n.2261A>C n.2054A>C c.1887A>C (p.Glu629Asp) c.147A>C (p.Glu49Asp) c.1412A>C n.1342A>C c.1950A>C (p.Glu650Asp) c.1974A>C (p.Glu658Asp) c.417A>C (p.Glu139Asp) | |
| 20 | g.8737174A>G | CA9760155 | PLCB1 | c.2190A>G (p.Glu730=) n.2261A>G n.2054A>G c.1887A>G (p.Glu629=) c.147A>G (p.Glu49=) c.1412A>G n.1342A>G c.1950A>G (p.Glu650=) c.1974A>G (p.Glu658=) c.417A>G (p.Glu139=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.8737174A>T | CA408207149 | PLCB1 | c.2190A>T (p.Glu730Asp) n.2261A>T n.2054A>T c.1887A>T (p.Glu629Asp) c.147A>T (p.Glu49Asp) c.1412A>T n.1342A>T c.1950A>T (p.Glu650Asp) c.1974A>T (p.Glu658Asp) c.417A>T (p.Glu139Asp) | |
| 20 | g.8737175C>A | CA408207150 | PLCB1 | c.2191C>A (p.Pro731Thr) n.2262C>A n.2055C>A c.1888C>A (p.Pro630Thr) c.148C>A (p.Pro50Thr) c.1413C>A n.1343C>A c.1951C>A (p.Pro651Thr) c.1975C>A (p.Pro659Thr) c.418C>A (p.Pro140Thr) | |
| 20 | g.8737175C= | CA2349026962 | PLCB1 | c.2191C= (p.Pro731=) n.2262C= n.2055C= c.1888C= (p.Pro630=) c.148C= (p.Pro50=) c.1413C= n.1343C= c.1951C= (p.Pro651=) c.1975C= (p.Pro659=) c.418C= (p.Pro140=) | |
| 20 | g.8737175C>G | CA154266 | PLCB1 | c.2191C>G (p.Pro731Ala) n.2262C>G n.2055C>G c.1888C>G (p.Pro630Ala) c.148C>G (p.Pro50Ala) c.1413C>G n.1343C>G c.1951C>G (p.Pro651Ala) c.1975C>G (p.Pro659Ala) c.418C>G (p.Pro140Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.8737175C>T | CA408207153 | PLCB1 | c.2191C>T (p.Pro731Ser) n.2262C>T n.2055C>T c.1888C>T (p.Pro630Ser) c.148C>T (p.Pro50Ser) c.1413C>T n.1343C>T c.1951C>T (p.Pro651Ser) c.1975C>T (p.Pro659Ser) c.418C>T (p.Pro140Ser) | |
| 20 | g.8737176C>A | CA408207155 | PLCB1 | c.2192C>A (p.Pro731His) n.2263C>A n.2056C>A c.1889C>A (p.Pro630His) c.149C>A (p.Pro50His) c.1414C>A n.1344C>A c.1952C>A (p.Pro651His) c.1976C>A (p.Pro659His) c.419C>A (p.Pro140His) | |
| 20 | g.8737176C>G | CA408207157 | PLCB1 | c.2192C>G (p.Pro731Arg) n.2263C>G n.2056C>G c.1889C>G (p.Pro630Arg) c.149C>G (p.Pro50Arg) c.1414C>G n.1344C>G c.1952C>G (p.Pro651Arg) c.1976C>G (p.Pro659Arg) c.419C>G (p.Pro140Arg) | |
| 20 | g.8737176C>T | CA408207156 | PLCB1 | c.2192C>T (p.Pro731Leu) n.2263C>T n.2056C>T c.1889C>T (p.Pro630Leu) c.149C>T (p.Pro50Leu) c.1414C>T n.1344C>T c.1952C>T (p.Pro651Leu) c.1976C>T (p.Pro659Leu) c.419C>T (p.Pro140Leu) | |
| 20 | g.8737177T>A | CA509639274 | PLCB1 | c.2193T>A (p.Pro731=) n.2264T>A n.2057T>A c.1890T>A (p.Pro630=) c.150T>A (p.Pro50=) c.1415T>A n.1345T>A c.1953T>A (p.Pro651=) c.1977T>A (p.Pro659=) c.420T>A (p.Pro140=) | |
| 20 | g.8737177T>C | CA509639275 | PLCB1 | c.2193T>C (p.Pro731=) n.2264T>C n.2057T>C c.1890T>C (p.Pro630=) c.150T>C (p.Pro50=) c.1415T>C n.1345T>C c.1953T>C (p.Pro651=) c.1977T>C (p.Pro659=) c.420T>C (p.Pro140=) | |
| 20 | g.8737177T>G | CA509639276 | PLCB1 | c.2193T>G (p.Pro731=) n.2264T>G n.2057T>G c.1890T>G (p.Pro630=) c.150T>G (p.Pro50=) c.1415T>G n.1345T>G c.1953T>G (p.Pro651=) c.1977T>G (p.Pro659=) c.420T>G (p.Pro140=) | |
| 20 | g.8737178A>C | CA408207158 | PLCB1 | c.2194A>C (p.Ile732Leu) n.2265A>C n.2058A>C c.1891A>C (p.Ile631Leu) c.151A>C (p.Ile51Leu) c.1416A>C n.1346A>C c.1954A>C (p.Ile652Leu) c.1978A>C (p.Ile660Leu) c.421A>C (p.Ile141Leu) |