Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.5973306_5981691del | CA2697553813 | PMS2 | c.*1570+1133_*2078del c.2171+1133_*93del c.2066+1133_*93del c.1679-3977_2042del c.2018+1133_*93del c.*1595+1133_*2103del c.1976+1133_*93del c.*1573+1133_*2081del c.*1761+1133_*2269del c.*1431+1133_*1939del n.3028+1133_3536del c.1856+1133_*93del c.1769+1133_*93del c.1601+1133_*93del c.*1264+1133_*1772del c.*492+1133_*1000del c.*1270+1133_*1677del c.2174+1133_*93del c.2174+1133_*323del n.2287+1133_2795del c.1797+1133_2305del c.*1705+1133_*2213del c.*1064+1133_*1572del c.*1768+1133_*2276del c.*1331+1133_*1839del c.*112+1133_*620del c.*1626+1133_*2134del c.*1677+1133_*2185del c.1613+1133_*93del c.2006+1133_*93del n.3946+1133_4454del c.*2074+1133_*2582del c.2360+1133_*93del c.*1623+1133_*2131del c.*1675+1133_*2183del c.*1810+1133_*2318del c.*1270+1133_*1735del c.804-8149_*236del n.2256+1133_2764del c.2168+1133_*93del c.1241+1133_*93del c.2219+1133_*93del c.2063+1133_*93del c.1865+1133_*93del n.2261+1133_2726del | |
7 | g.5973306_5982991del | CA2581463459 | PMS2 | c.*1403_*2078del c.2004_*93del c.1899_*93del c.1678+4096_2042del c.1851_*93del c.*1428_*2103del c.1809_*93del c.*1406_*2081del c.*1594_*2269del c.*1264_*1939del n.2861_3536del c.1689_*93del c.1602_*93del c.1434_*93del c.*1097_*1772del c.*325_*1000del c.*1103_*1677del c.2007_*93del c.2007_*323del n.2120_2795del c.1630_2305del c.*1538_*2213del c.*897_*1572del c.*1601_*2276del c.*1164_*1839del c.1145_*620del c.*1459_*2134del c.*1510_*2185del c.1446_*93del c.1839_*93del n.3779_4454del c.*1907_*2582del c.2193_*93del c.*1456_*2131del c.*1508_*2183del c.*1643_*2318del c.989_*620del c.*1103_*1735del c.804-9449_*236del n.2089_2764del c.2001_*93del c.1074_*93del c.2052_*93del c.1896_*93del c.1698_*93del n.2094_2726del | |
7 | g.5976004_5977882del | CA331753 | PMS2 | c.*1672-113_*1841+1596del c.2273-113_2442+1596del c.2168-113_2337+1596del c.1679-156_1805+1596del c.*1870-113_*2039+1596del c.2120-113_2289+1596del c.*1697-113_*1866+1596del c.2078-113_2247+1596del c.*1675-113_*1844+1596del c.*1863-113_*2032+1596del c.*1533-113_*1702+1596del n.3130-113_3299+1596del c.1958-113_2127+1596del c.1871-113_2040+1596del c.1703-113_1872+1596del c.*1366-113_*1535+1596del c.*594-113_*763+1596del c.*1271-113_*1440+1596del c.2276-80_2478+1596del c.2276-156_*86+1596del c.2175-156_2301+1596del n.2389-113_2558+1596del c.1899-113_2068+1596del c.*1807-113_*1976+1596del c.*1166-113_*1335+1596del c.*1433-113_*1602+1596del c.*214-113_*383+1596del c.1871-80_2073+1596del c.*1728-113_*1897+1596del c.*1779-113_*1948+1596del c.1715-113_1884+1596del c.2108-113_2277+1596del n.4048-113_4217+1596del c.*2176-113_*2345+1596del c.2462-113_2631+1596del c.*1725-113_*1894+1596del c.*1777-113_*1946+1596del c.*1912-113_*2081+1596del c.*1372-156_*1498+1596del c.804-4328_804-2450del (n.804-4328_804-2450del) c.2276-113_2445+1596del c.1073-113_1242+1596del n.2358-113_2527+1596del c.2270-113_2439+1596del c.1343-113_1512+1596del c.2321-113_2490+1596del c.2165-113_2334+1596del c.1967-113_2136+1596del n.2363-156_2489+1596del | ClinVar |
7 | g.5976806_5977856del | CA331754 | PMS2 | c.*1672-91_*1841+790del c.2273-91_2442+790del c.2168-91_2337+790del c.1679-134_1805+790del c.*1870-91_*2039+790del c.2120-91_2289+790del c.*1697-91_*1866+790del c.2078-91_2247+790del c.*1675-91_*1844+790del c.*1863-91_*2032+790del c.*1533-91_*1702+790del n.3130-91_3299+790del c.1958-91_2127+790del c.1871-91_2040+790del c.1703-91_1872+790del c.*1366-91_*1535+790del c.*594-91_*763+790del c.*1271-91_*1440+790del c.2276-58_2478+790del c.2276-134_*86+790del c.2175-134_2301+790del n.2389-91_2558+790del c.1899-91_2068+790del c.*1807-91_*1976+790del c.*1166-91_*1335+790del c.*1433-91_*1602+790del c.*214-91_*383+790del c.1871-58_2073+790del c.*1728-91_*1897+790del c.*1779-91_*1948+790del c.1715-91_1884+790del c.2108-91_2277+790del n.4048-91_4217+790del c.*2176-91_*2345+790del c.2462-91_2631+790del c.*1725-91_*1894+790del c.*1777-91_*1946+790del c.*1912-91_*2081+790del c.*1372-134_*1498+790del c.804-4306_804-3256del (n.804-4306_804-3256del) c.2276-91_2445+790del c.1073-91_1242+790del n.2358-91_2527+790del c.2270-91_2439+790del c.1343-91_1512+790del c.2321-91_2490+790del c.2165-91_2334+790del c.1967-91_2136+790del n.2363-134_2489+790del | ClinVar |
7 | g.5977077_5977676delinsCGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCA | CA1685249028 | PMS2 | c.*1753_*1841+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2354_2442+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2249_2337+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.1717_1805+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1951_*2039+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2201_2289+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1778_*1866+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2159_2247+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1756_*1844+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1944_*2032+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1614_*1702+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG n.3211_3299+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2039_2127+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.1952_2040+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.1784_1872+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1447_*1535+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*675_*763+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1352_*1440+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2390_2478+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2314_*86+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2213_2301+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG n.2470_2558+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.1980_2068+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1888_*1976+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1247_*1335+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1514_*1602+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*295_*383+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.1985_2073+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1809_*1897+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1860_*1948+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.1796_1884+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2189_2277+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG n.4129_4217+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*2257_*2345+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2543_2631+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1806_*1894+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1858_*1946+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1993_*2081+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.*1410_*1498+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.804-4134_804-3535delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG (n.804-4134_804-3535delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG) c.2357_2445+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.1154_1242+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG n.2439_2527+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2351_2439+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.1424_1512+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2402_2490+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2246_2334+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG c.2048_2136+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG n.2401_2489+511delinsTGATCTTCATGCTGAGCGACAGCCCTGGGGTCATGTGCCGGCCTTCCCGAGTCAAGCAGATGTTTGCCTCCAGAGCCTGCCGGAAGTCGGTAAGTAAAGAAAGCCTGGCTGTCAGCTCAGCTGCTCAAGCTTGCAGTCGAGGAAGGTCTCAGCCCAGCTCCTGATTTGGTCAAGGTTGTAAACGCCTTTGTGATTGCCAGGGGTCATTTTACACAGAGAGCTACGTGCAGCGTCGTAGCTGAGCATCTGTGTCGTCTGCGTTCTCTGTGACCTTGAACTCATAATTATTGCTCTTTTGTTACCTCTGTTAAGCAGTATTCTTGGCCGGGCATGGTGGCTCAAGCCTCTAATCCCAGCACTTTGGGAAGCTGAGGCGGGCGGATCACGAGTTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAAGCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGTCGGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGAAGGCGGAACTTGCAGTGAGCCAAGTTCATACCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCG | |
7 | g.5977079_5977677del | CA891842805 | PMS2 | c.*1753_*1841+510del c.2354_2442+510del c.2249_2337+510del c.1717_1805+510del c.*1951_*2039+510del c.2201_2289+510del c.*1778_*1866+510del c.2159_2247+510del c.*1756_*1844+510del c.*1944_*2032+510del c.*1614_*1702+510del n.3211_3299+510del c.2039_2127+510del c.1952_2040+510del c.1784_1872+510del c.*1447_*1535+510del c.*675_*763+510del c.*1352_*1440+510del c.2390_2478+510del c.2314_*86+510del c.2213_2301+510del n.2470_2558+510del c.1980_2068+510del c.*1888_*1976+510del c.*1247_*1335+510del c.*1514_*1602+510del c.*295_*383+510del c.1985_2073+510del c.*1809_*1897+510del c.*1860_*1948+510del c.1796_1884+510del c.2189_2277+510del n.4129_4217+510del c.*2257_*2345+510del c.2543_2631+510del c.*1806_*1894+510del c.*1858_*1946+510del c.*1993_*2081+510del c.*1410_*1498+510del c.804-4134_804-3536del (n.804-4134_804-3536del) c.2357_2445+510del c.1154_1242+510del n.2439_2527+510del c.2351_2439+510del c.1424_1512+510del c.2402_2490+510del c.2246_2334+510del c.2048_2136+510del n.2401_2489+510del | ClinVar dbSNP |
7 | g.5977586_5980033del | CA2499218940 | PMS2 | c.*1571-1335_*1841+4del c.2172-1335_2442+4del c.2067-1335_2337+4del c.1679-2317_1805+4del c.*1769-1335_*2039+4del c.2019-1335_2289+4del c.*1596-1335_*1866+4del c.1977-1335_2247+4del c.*1574-1335_*1844+4del c.*1762-1335_*2032+4del c.*1432-1335_*1702+4del n.3029-1335_3299+4del c.1857-1335_2127+4del c.1770-1335_2040+4del c.1602-1335_1872+4del c.*1265-1335_*1535+4del c.*493-1335_*763+4del c.*1271-2274_*1440+4del c.2175-1335_2478+4del c.2175-1335_*86+4del c.2175-2317_2301+4del n.2288-1335_2558+4del c.1798-1335_2068+4del c.*1706-1335_*1976+4del c.*1065-1335_*1335+4del c.*1332-1335_*1602+4del c.*113-1335_*383+4del c.1770-1335_2073+4del c.*1627-1335_*1897+4del c.*1678-1335_*1948+4del c.1614-1335_1884+4del c.2007-1335_2277+4del n.3947-1335_4217+4del c.*2075-1335_*2345+4del c.2361-1335_2631+4del c.*1624-1335_*1894+4del c.*1676-1335_*1946+4del c.*1811-1335_*2081+4del c.*1271-1335_*1498+4del c.804-6489_804-4042del (n.804-6489_804-4042del) c.2175-1335_2445+4del c.972-1335_1242+4del n.2257-1335_2527+4del c.2169-1335_2439+4del c.1242-1335_1512+4del c.2220-1335_2490+4del c.2064-1335_2334+4del c.1866-1335_2136+4del n.2262-1335_2489+4del | ClinVar |
7 | g.5977586_5977758del | CA2499218941 | PMS2 | c.*1672-1_*1841+2del c.2273-1_2442+2del c.2168-1_2337+2del c.1679-44_1805+2del c.*1870-1_*2039+2del c.2120-1_2289+2del c.*1697-1_*1866+2del c.2078-1_2247+2del c.*1675-1_*1844+2del c.*1863-1_*2032+2del c.*1533-1_*1702+2del n.3130-1_3299+2del c.1958-1_2127+2del c.1871-1_2040+2del c.1703-1_1872+2del c.*1366-1_*1535+2del c.*594-1_*763+2del c.*1271-1_*1440+2del c.2308_2478+2del c.2276-44_*86+2del c.2175-44_2301+2del n.2389-1_2558+2del c.1899-1_2068+2del c.*1807-1_*1976+2del c.*1166-1_*1335+2del c.*1433-1_*1602+2del c.*214-1_*383+2del c.1903_2073+2del c.*1728-1_*1897+2del c.*1779-1_*1948+2del c.1715-1_1884+2del c.2108-1_2277+2del n.4048-1_4217+2del c.*2176-1_*2345+2del c.2462-1_2631+2del c.*1725-1_*1894+2del c.*1777-1_*1946+2del c.*1912-1_*2081+2del c.*1372-44_*1498+2del c.804-4216_804-4044del (n.804-4216_804-4044del) c.2276-1_2445+2del c.1073-1_1242+2del n.2358-1_2527+2del c.2270-1_2439+2del c.1343-1_1512+2del c.2321-1_2490+2del c.2165-1_2334+2del c.1967-1_2136+2del n.2363-44_2489+2del | ClinVar dbSNP |
7 | g.5977608_5977609del | CA2695198396 | PMS2 | c.*1821_*1822del (n.*1821_*1822del) c.2422_2423del (p.Ser808GlnfsTer14) c.2317_2318del (p.Ser773GlnfsTer14) c.1785_1786del (n.1785_1786del) c.*2019_*2020del (n.*2019_*2020del) c.2269_2270del (p.Ser757GlnfsTer14) c.*1846_*1847del (n.*1846_*1847del) c.2227_2228del (p.Ser743GlnfsTer14) c.*1824_*1825del (n.*1824_*1825del) c.*2012_*2013del (n.*2012_*2013del) c.*1682_*1683del (n.*1682_*1683del) n.3279_3280del c.2107_2108del (p.Ser703GlnfsTer14) c.2020_2021del (p.Ser674GlnfsTer14) c.1852_1853del (p.Ser618GlnfsTer14) c.*1515_*1516del (n.*1515_*1516del) c.*743_*744del (n.*743_*744del) c.*1420_*1421del (n.*1420_*1421del) c.2458_2459del (p.Ser820GlnfsTer14) c.*66_*67del (n.*66_*67del) c.2281_2282del (p.Ser761GlnfsTer14) n.2538_2539del c.2048_2049del c.*1956_*1957del (n.*1956_*1957del) c.*1315_*1316del (n.*1315_*1316del) c.*1582_*1583del (n.*1582_*1583del) c.*363_*364del (n.*363_*364del) c.2053_2054del (p.Ser685GlnfsTer14) c.*1877_*1878del (n.*1877_*1878del) c.*1928_*1929del (n.*1928_*1929del) c.1864_1865del (p.Ser622GlnfsTer14) c.2257_2258del (p.Ser753GlnfsTer14) n.4197_4198del c.*2325_*2326del (n.*2325_*2326del) c.2611_2612del (p.Ser871GlnfsTer14) c.*1874_*1875del (n.*1874_*1875del) c.*1926_*1927del (n.*1926_*1927del) c.*2061_*2062del (n.*2061_*2062del) c.*1478_*1479del (n.*1478_*1479del) c.804-4066_804-4065del (n.804-4066_804-4065del) c.2425_2426del (p.Ser809GlnfsTer14) c.1222_1223del (p.Ser408GlnfsTer14) n.2507_2508del c.2419_2420del (p.Ser807GlnfsTer14) c.1492_1493del (p.Ser498GlnfsTer14) c.2470_2471del (p.Ser824GlnfsTer14) c.2314_2315del (p.Ser772GlnfsTer14) c.2116_2117del (p.Ser706GlnfsTer14) n.2469_2470del | |
7 | g.5977609G>A | CA453642319 | PMS2 | c.*1820C>T (n.*1820C>T) c.2421C>T (p.Ala807=) c.2316C>T (p.Ala772=) c.1784C>T (n.1784C>T) c.*2018C>T (n.*2018C>T) c.2268C>T (p.Ala756=) c.*1845C>T (n.*1845C>T) c.2226C>T (p.Ala742=) c.*1823C>T (n.*1823C>T) c.*2011C>T (n.*2011C>T) c.*1681C>T (n.*1681C>T) n.3278C>T c.2106C>T (p.Ala702=) c.2019C>T (p.Ala673=) c.1851C>T (p.Ala617=) c.*1514C>T (n.*1514C>T) c.*742C>T (n.*742C>T) c.*1419C>T (n.*1419C>T) c.2457C>T (p.Ala819=) c.*65C>T (n.*65C>T) c.2280C>T (p.Ala760=) n.2537C>T c.2047C>T c.*1955C>T (n.*1955C>T) c.*1314C>T (n.*1314C>T) c.*1581C>T (n.*1581C>T) c.*362C>T (n.*362C>T) c.2052C>T (p.Ala684=) c.*1876C>T (n.*1876C>T) c.*1927C>T (n.*1927C>T) c.1863C>T (p.Ala621=) c.2256C>T (p.Ala752=) n.4196C>T c.*2324C>T (n.*2324C>T) c.2610C>T (p.Ala870=) c.*1873C>T (n.*1873C>T) c.*1925C>T (n.*1925C>T) c.*2060C>T (n.*2060C>T) c.*1477C>T (n.*1477C>T) c.804-4067C>T (n.804-4067C>T) c.2424C>T (p.Ala808=) c.1221C>T (p.Ala407=) n.2506C>T c.2418C>T (p.Ala806=) c.1491C>T (p.Ala497=) c.2469C>T (p.Ala823=) c.2313C>T (p.Ala771=) c.2115C>T (p.Ala705=) n.2468C>T | ClinVar dbSNP COSMIC |
7 | g.5977609G>C | CA453642320 | PMS2 | c.*1820C>G (n.*1820C>G) c.2421C>G (p.Ala807=) c.2316C>G (p.Ala772=) c.1784C>G (n.1784C>G) c.*2018C>G (n.*2018C>G) c.2268C>G (p.Ala756=) c.*1845C>G (n.*1845C>G) c.2226C>G (p.Ala742=) c.*1823C>G (n.*1823C>G) c.*2011C>G (n.*2011C>G) c.*1681C>G (n.*1681C>G) n.3278C>G c.2106C>G (p.Ala702=) c.2019C>G (p.Ala673=) c.1851C>G (p.Ala617=) c.*1514C>G (n.*1514C>G) c.*742C>G (n.*742C>G) c.*1419C>G (n.*1419C>G) c.2457C>G (p.Ala819=) c.*65C>G (n.*65C>G) c.2280C>G (p.Ala760=) n.2537C>G c.2047C>G c.*1955C>G (n.*1955C>G) c.*1314C>G (n.*1314C>G) c.*1581C>G (n.*1581C>G) c.*362C>G (n.*362C>G) c.2052C>G (p.Ala684=) c.*1876C>G (n.*1876C>G) c.*1927C>G (n.*1927C>G) c.1863C>G (p.Ala621=) c.2256C>G (p.Ala752=) n.4196C>G c.*2324C>G (n.*2324C>G) c.2610C>G (p.Ala870=) c.*1873C>G (n.*1873C>G) c.*1925C>G (n.*1925C>G) c.*2060C>G (n.*2060C>G) c.*1477C>G (n.*1477C>G) c.804-4067C>G (n.804-4067C>G) c.2424C>G (p.Ala808=) c.1221C>G (p.Ala407=) n.2506C>G c.2418C>G (p.Ala806=) c.1491C>G (p.Ala497=) c.2469C>G (p.Ala823=) c.2313C>G (p.Ala771=) c.2115C>G (p.Ala705=) n.2468C>G | |
7 | g.5977609G= | CA1685250047 | PMS2 | c.*1820C= (n.*1820C=) c.2421C= (p.Ala807=) c.2316C= (p.Ala772=) c.1784C= (n.1784C=) c.*2018C= (n.*2018C=) c.2268C= (p.Ala756=) c.*1845C= (n.*1845C=) c.2226C= (p.Ala742=) c.*1823C= (n.*1823C=) c.*2011C= (n.*2011C=) c.*1681C= (n.*1681C=) n.3278C= c.2106C= (p.Ala702=) c.2019C= (p.Ala673=) c.1851C= (p.Ala617=) c.*1514C= (n.*1514C=) c.*742C= (n.*742C=) c.*1419C= (n.*1419C=) c.2457C= (p.Ala819=) c.*65C= (n.*65C=) c.2280C= (p.Ala760=) n.2537C= c.2047C= c.*1955C= (n.*1955C=) c.*1314C= (n.*1314C=) c.*1581C= (n.*1581C=) c.*362C= (n.*362C=) c.2052C= (p.Ala684=) c.*1876C= (n.*1876C=) c.*1927C= (n.*1927C=) c.1863C= (p.Ala621=) c.2256C= (p.Ala752=) n.4196C= c.*2324C= (n.*2324C=) c.2610C= (p.Ala870=) c.*1873C= (n.*1873C=) c.*1925C= (n.*1925C=) c.*2060C= (n.*2060C=) c.*1477C= (n.*1477C=) c.804-4067C= (n.804-4067C=) c.2424C= (p.Ala808=) c.1221C= (p.Ala407=) n.2506C= c.2418C= (p.Ala806=) c.1491C= (p.Ala497=) c.2469C= (p.Ala823=) c.2313C= (p.Ala771=) c.2115C= (p.Ala705=) n.2468C= | |
7 | g.5977609G>T | CA453642321 | PMS2 | c.*1820C>A (n.*1820C>A) c.2421C>A (p.Ala807=) c.2316C>A (p.Ala772=) c.1784C>A (n.1784C>A) c.*2018C>A (n.*2018C>A) c.2268C>A (p.Ala756=) c.*1845C>A (n.*1845C>A) c.2226C>A (p.Ala742=) c.*1823C>A (n.*1823C>A) c.*2011C>A (n.*2011C>A) c.*1681C>A (n.*1681C>A) n.3278C>A c.2106C>A (p.Ala702=) c.2019C>A (p.Ala673=) c.1851C>A (p.Ala617=) c.*1514C>A (n.*1514C>A) c.*742C>A (n.*742C>A) c.*1419C>A (n.*1419C>A) c.2457C>A (p.Ala819=) c.*65C>A (n.*65C>A) c.2280C>A (p.Ala760=) n.2537C>A c.2047C>A c.*1955C>A (n.*1955C>A) c.*1314C>A (n.*1314C>A) c.*1581C>A (n.*1581C>A) c.*362C>A (n.*362C>A) c.2052C>A (p.Ala684=) c.*1876C>A (n.*1876C>A) c.*1927C>A (n.*1927C>A) c.1863C>A (p.Ala621=) c.2256C>A (p.Ala752=) n.4196C>A c.*2324C>A (n.*2324C>A) c.2610C>A (p.Ala870=) c.*1873C>A (n.*1873C>A) c.*1925C>A (n.*1925C>A) c.*2060C>A (n.*2060C>A) c.*1477C>A (n.*1477C>A) c.804-4067C>A (n.804-4067C>A) c.2424C>A (p.Ala808=) c.1221C>A (p.Ala407=) n.2506C>A c.2418C>A (p.Ala806=) c.1491C>A (p.Ala497=) c.2469C>A (p.Ala823=) c.2313C>A (p.Ala771=) c.2115C>A (p.Ala705=) n.2468C>A | ClinVar |
7 | g.5977610G>A | CA366735601 | PMS2 | c.*1819C>T (n.*1819C>T) c.2420C>T (p.Ala807Val) c.2315C>T (p.Ala772Val) c.1783C>T (n.1783C>T) c.*2017C>T (n.*2017C>T) c.2267C>T (p.Ala756Val) c.*1844C>T (n.*1844C>T) c.2225C>T (p.Ala742Val) c.*1822C>T (n.*1822C>T) c.*2010C>T (n.*2010C>T) c.*1680C>T (n.*1680C>T) n.3277C>T c.2105C>T (p.Ala702Val) c.2018C>T (p.Ala673Val) c.1850C>T (p.Ala617Val) c.*1513C>T (n.*1513C>T) c.*741C>T (n.*741C>T) c.*1418C>T (n.*1418C>T) c.2456C>T (p.Ala819Val) c.*64C>T (n.*64C>T) c.2279C>T (p.Ala760Val) n.2536C>T c.2046C>T c.*1954C>T (n.*1954C>T) c.*1313C>T (n.*1313C>T) c.*1580C>T (n.*1580C>T) c.*361C>T (n.*361C>T) c.2051C>T (p.Ala684Val) c.*1875C>T (n.*1875C>T) c.*1926C>T (n.*1926C>T) c.1862C>T (p.Ala621Val) c.2255C>T (p.Ala752Val) n.4195C>T c.*2323C>T (n.*2323C>T) c.2609C>T (p.Ala870Val) c.*1872C>T (n.*1872C>T) c.*1924C>T (n.*1924C>T) c.*2059C>T (n.*2059C>T) c.*1476C>T (n.*1476C>T) c.804-4068C>T (n.804-4068C>T) c.2423C>T (p.Ala808Val) c.1220C>T (p.Ala407Val) n.2505C>T c.2417C>T (p.Ala806Val) c.1490C>T (p.Ala497Val) c.2468C>T (p.Ala823Val) c.2312C>T (p.Ala771Val) c.2114C>T (p.Ala705Val) n.2467C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.5977610G>C | CA366735602 | PMS2 | c.*1819C>G (n.*1819C>G) c.2420C>G (p.Ala807Gly) c.2315C>G (p.Ala772Gly) c.1783C>G (n.1783C>G) c.*2017C>G (n.*2017C>G) c.2267C>G (p.Ala756Gly) c.*1844C>G (n.*1844C>G) c.2225C>G (p.Ala742Gly) c.*1822C>G (n.*1822C>G) c.*2010C>G (n.*2010C>G) c.*1680C>G (n.*1680C>G) n.3277C>G c.2105C>G (p.Ala702Gly) c.2018C>G (p.Ala673Gly) c.1850C>G (p.Ala617Gly) c.*1513C>G (n.*1513C>G) c.*741C>G (n.*741C>G) c.*1418C>G (n.*1418C>G) c.2456C>G (p.Ala819Gly) c.*64C>G (n.*64C>G) c.2279C>G (p.Ala760Gly) n.2536C>G c.2046C>G c.*1954C>G (n.*1954C>G) c.*1313C>G (n.*1313C>G) c.*1580C>G (n.*1580C>G) c.*361C>G (n.*361C>G) c.2051C>G (p.Ala684Gly) c.*1875C>G (n.*1875C>G) c.*1926C>G (n.*1926C>G) c.1862C>G (p.Ala621Gly) c.2255C>G (p.Ala752Gly) n.4195C>G c.*2323C>G (n.*2323C>G) c.2609C>G (p.Ala870Gly) c.*1872C>G (n.*1872C>G) c.*1924C>G (n.*1924C>G) c.*2059C>G (n.*2059C>G) c.*1476C>G (n.*1476C>G) c.804-4068C>G (n.804-4068C>G) c.2423C>G (p.Ala808Gly) c.1220C>G (p.Ala407Gly) n.2505C>G c.2417C>G (p.Ala806Gly) c.1490C>G (p.Ala497Gly) c.2468C>G (p.Ala823Gly) c.2312C>G (p.Ala771Gly) c.2114C>G (p.Ala705Gly) n.2467C>G | dbSNP |
7 | g.5977610G= | CA1685250051 | PMS2 | c.*1819C= (n.*1819C=) c.2420C= (p.Ala807=) c.2315C= (p.Ala772=) c.1783C= (n.1783C=) c.*2017C= (n.*2017C=) c.2267C= (p.Ala756=) c.*1844C= (n.*1844C=) c.2225C= (p.Ala742=) c.*1822C= (n.*1822C=) c.*2010C= (n.*2010C=) c.*1680C= (n.*1680C=) n.3277C= c.2105C= (p.Ala702=) c.2018C= (p.Ala673=) c.1850C= (p.Ala617=) c.*1513C= (n.*1513C=) c.*741C= (n.*741C=) c.*1418C= (n.*1418C=) c.2456C= (p.Ala819=) c.*64C= (n.*64C=) c.2279C= (p.Ala760=) n.2536C= c.2046C= c.*1954C= (n.*1954C=) c.*1313C= (n.*1313C=) c.*1580C= (n.*1580C=) c.*361C= (n.*361C=) c.2051C= (p.Ala684=) c.*1875C= (n.*1875C=) c.*1926C= (n.*1926C=) c.1862C= (p.Ala621=) c.2255C= (p.Ala752=) n.4195C= c.*2323C= (n.*2323C=) c.2609C= (p.Ala870=) c.*1872C= (n.*1872C=) c.*1924C= (n.*1924C=) c.*2059C= (n.*2059C=) c.*1476C= (n.*1476C=) c.804-4068C= (n.804-4068C=) c.2423C= (p.Ala808=) c.1220C= (p.Ala407=) n.2505C= c.2417C= (p.Ala806=) c.1490C= (p.Ala497=) c.2468C= (p.Ala823=) c.2312C= (p.Ala771=) c.2114C= (p.Ala705=) n.2467C= | |
7 | g.5977610G>T | CA366735604 | PMS2 | c.*1819C>A (n.*1819C>A) c.2420C>A (p.Ala807Asp) c.2315C>A (p.Ala772Asp) c.1783C>A (n.1783C>A) c.*2017C>A (n.*2017C>A) c.2267C>A (p.Ala756Asp) c.*1844C>A (n.*1844C>A) c.2225C>A (p.Ala742Asp) c.*1822C>A (n.*1822C>A) c.*2010C>A (n.*2010C>A) c.*1680C>A (n.*1680C>A) n.3277C>A c.2105C>A (p.Ala702Asp) c.2018C>A (p.Ala673Asp) c.1850C>A (p.Ala617Asp) c.*1513C>A (n.*1513C>A) c.*741C>A (n.*741C>A) c.*1418C>A (n.*1418C>A) c.2456C>A (p.Ala819Asp) c.*64C>A (n.*64C>A) c.2279C>A (p.Ala760Asp) n.2536C>A c.2046C>A c.*1954C>A (n.*1954C>A) c.*1313C>A (n.*1313C>A) c.*1580C>A (n.*1580C>A) c.*361C>A (n.*361C>A) c.2051C>A (p.Ala684Asp) c.*1875C>A (n.*1875C>A) c.*1926C>A (n.*1926C>A) c.1862C>A (p.Ala621Asp) c.2255C>A (p.Ala752Asp) n.4195C>A c.*2323C>A (n.*2323C>A) c.2609C>A (p.Ala870Asp) c.*1872C>A (n.*1872C>A) c.*1924C>A (n.*1924C>A) c.*2059C>A (n.*2059C>A) c.*1476C>A (n.*1476C>A) c.804-4068C>A (n.804-4068C>A) c.2423C>A (p.Ala808Asp) c.1220C>A (p.Ala407Asp) n.2505C>A c.2417C>A (p.Ala806Asp) c.1490C>A (p.Ala497Asp) c.2468C>A (p.Ala823Asp) c.2312C>A (p.Ala771Asp) c.2114C>A (p.Ala705Asp) n.2467C>A | dbSNP |
7 | g.5977611C>A | CA366735609 | PMS2 | c.*1818G>T (n.*1818G>T) c.2419G>T (p.Ala807Ser) c.2314G>T (p.Ala772Ser) c.1782G>T (n.1782G>T) c.*2016G>T (n.*2016G>T) c.2266G>T (p.Ala756Ser) c.*1843G>T (n.*1843G>T) c.2224G>T (p.Ala742Ser) c.*1821G>T (n.*1821G>T) c.*2009G>T (n.*2009G>T) c.*1679G>T (n.*1679G>T) n.3276G>T c.2104G>T (p.Ala702Ser) c.2017G>T (p.Ala673Ser) c.1849G>T (p.Ala617Ser) c.*1512G>T (n.*1512G>T) c.*740G>T (n.*740G>T) c.*1417G>T (n.*1417G>T) c.2455G>T (p.Ala819Ser) c.*63G>T (n.*63G>T) c.2278G>T (p.Ala760Ser) n.2535G>T c.2045G>T c.*1953G>T (n.*1953G>T) c.*1312G>T (n.*1312G>T) c.*1579G>T (n.*1579G>T) c.*360G>T (n.*360G>T) c.2050G>T (p.Ala684Ser) c.*1874G>T (n.*1874G>T) c.*1925G>T (n.*1925G>T) c.1861G>T (p.Ala621Ser) c.2254G>T (p.Ala752Ser) n.4194G>T c.*2322G>T (n.*2322G>T) c.2608G>T (p.Ala870Ser) c.*1871G>T (n.*1871G>T) c.*1923G>T (n.*1923G>T) c.*2058G>T (n.*2058G>T) c.*1475G>T (n.*1475G>T) c.804-4069G>T (n.804-4069G>T) c.2422G>T (p.Ala808Ser) c.1219G>T (p.Ala407Ser) n.2504G>T c.2416G>T (p.Ala806Ser) c.1489G>T (p.Ala497Ser) c.2467G>T (p.Ala823Ser) c.2311G>T (p.Ala771Ser) c.2113G>T (p.Ala705Ser) n.2466G>T | |
7 | g.5977611C= | CA1685250055 | PMS2 | c.*1818G= (n.*1818G=) c.2419G= (p.Ala807=) c.2314G= (p.Ala772=) c.1782G= (n.1782G=) c.*2016G= (n.*2016G=) c.2266G= (p.Ala756=) c.*1843G= (n.*1843G=) c.2224G= (p.Ala742=) c.*1821G= (n.*1821G=) c.*2009G= (n.*2009G=) c.*1679G= (n.*1679G=) n.3276G= c.2104G= (p.Ala702=) c.2017G= (p.Ala673=) c.1849G= (p.Ala617=) c.*1512G= (n.*1512G=) c.*740G= (n.*740G=) c.*1417G= (n.*1417G=) c.2455G= (p.Ala819=) c.*63G= (n.*63G=) c.2278G= (p.Ala760=) n.2535G= c.2045G= c.*1953G= (n.*1953G=) c.*1312G= (n.*1312G=) c.*1579G= (n.*1579G=) c.*360G= (n.*360G=) c.2050G= (p.Ala684=) c.*1874G= (n.*1874G=) c.*1925G= (n.*1925G=) c.1861G= (p.Ala621=) c.2254G= (p.Ala752=) n.4194G= c.*2322G= (n.*2322G=) c.2608G= (p.Ala870=) c.*1871G= (n.*1871G=) c.*1923G= (n.*1923G=) c.*2058G= (n.*2058G=) c.*1475G= (n.*1475G=) c.804-4069G= (n.804-4069G=) c.2422G= (p.Ala808=) c.1219G= (p.Ala407=) n.2504G= c.2416G= (p.Ala806=) c.1489G= (p.Ala497=) c.2467G= (p.Ala823=) c.2311G= (p.Ala771=) c.2113G= (p.Ala705=) n.2466G= | |
7 | g.5977611C>G | CA366735606 | PMS2 | c.*1818G>C (n.*1818G>C) c.2419G>C (p.Ala807Pro) c.2314G>C (p.Ala772Pro) c.1782G>C (n.1782G>C) c.*2016G>C (n.*2016G>C) c.2266G>C (p.Ala756Pro) c.*1843G>C (n.*1843G>C) c.2224G>C (p.Ala742Pro) c.*1821G>C (n.*1821G>C) c.*2009G>C (n.*2009G>C) c.*1679G>C (n.*1679G>C) n.3276G>C c.2104G>C (p.Ala702Pro) c.2017G>C (p.Ala673Pro) c.1849G>C (p.Ala617Pro) c.*1512G>C (n.*1512G>C) c.*740G>C (n.*740G>C) c.*1417G>C (n.*1417G>C) c.2455G>C (p.Ala819Pro) c.*63G>C (n.*63G>C) c.2278G>C (p.Ala760Pro) n.2535G>C c.2045G>C c.*1953G>C (n.*1953G>C) c.*1312G>C (n.*1312G>C) c.*1579G>C (n.*1579G>C) c.*360G>C (n.*360G>C) c.2050G>C (p.Ala684Pro) c.*1874G>C (n.*1874G>C) c.*1925G>C (n.*1925G>C) c.1861G>C (p.Ala621Pro) c.2254G>C (p.Ala752Pro) n.4194G>C c.*2322G>C (n.*2322G>C) c.2608G>C (p.Ala870Pro) c.*1871G>C (n.*1871G>C) c.*1923G>C (n.*1923G>C) c.*2058G>C (n.*2058G>C) c.*1475G>C (n.*1475G>C) c.804-4069G>C (n.804-4069G>C) c.2422G>C (p.Ala808Pro) c.1219G>C (p.Ala407Pro) n.2504G>C c.2416G>C (p.Ala806Pro) c.1489G>C (p.Ala497Pro) c.2467G>C (p.Ala823Pro) c.2311G>C (p.Ala771Pro) c.2113G>C (p.Ala705Pro) n.2466G>C | ClinVar dbSNP gnomAD v4 |
7 | g.5977611C>T | CA366735607 | PMS2 | c.*1818G>A (n.*1818G>A) c.2419G>A (p.Ala807Thr) c.2314G>A (p.Ala772Thr) c.1782G>A (n.1782G>A) c.*2016G>A (n.*2016G>A) c.2266G>A (p.Ala756Thr) c.*1843G>A (n.*1843G>A) c.2224G>A (p.Ala742Thr) c.*1821G>A (n.*1821G>A) c.*2009G>A (n.*2009G>A) c.*1679G>A (n.*1679G>A) n.3276G>A c.2104G>A (p.Ala702Thr) c.2017G>A (p.Ala673Thr) c.1849G>A (p.Ala617Thr) c.*1512G>A (n.*1512G>A) c.*740G>A (n.*740G>A) c.*1417G>A (n.*1417G>A) c.2455G>A (p.Ala819Thr) c.*63G>A (n.*63G>A) c.2278G>A (p.Ala760Thr) n.2535G>A c.2045G>A c.*1953G>A (n.*1953G>A) c.*1312G>A (n.*1312G>A) c.*1579G>A (n.*1579G>A) c.*360G>A (n.*360G>A) c.2050G>A (p.Ala684Thr) c.*1874G>A (n.*1874G>A) c.*1925G>A (n.*1925G>A) c.1861G>A (p.Ala621Thr) c.2254G>A (p.Ala752Thr) n.4194G>A c.*2322G>A (n.*2322G>A) c.2608G>A (p.Ala870Thr) c.*1871G>A (n.*1871G>A) c.*1923G>A (n.*1923G>A) c.*2058G>A (n.*2058G>A) c.*1475G>A (n.*1475G>A) c.804-4069G>A (n.804-4069G>A) c.2422G>A (p.Ala808Thr) c.1219G>A (p.Ala407Thr) n.2504G>A c.2416G>A (p.Ala806Thr) c.1489G>A (p.Ala497Thr) c.2467G>A (p.Ala823Thr) c.2311G>A (p.Ala771Thr) c.2113G>A (p.Ala705Thr) n.2466G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.5977612A>C | CA366735610 | PMS2 | c.*1817T>G (n.*1817T>G) c.2418T>G (p.Phe806Leu) c.2313T>G (p.Phe771Leu) c.1781T>G (n.1781T>G) c.*2015T>G (n.*2015T>G) c.2265T>G (p.Phe755Leu) c.*1842T>G (n.*1842T>G) c.2223T>G (p.Phe741Leu) c.*1820T>G (n.*1820T>G) c.*2008T>G (n.*2008T>G) c.*1678T>G (n.*1678T>G) n.3275T>G c.2103T>G (p.Phe701Leu) c.2016T>G (p.Phe672Leu) c.1848T>G (p.Phe616Leu) c.*1511T>G (n.*1511T>G) c.*739T>G (n.*739T>G) c.*1416T>G (n.*1416T>G) c.2454T>G (p.Phe818Leu) c.*62T>G (n.*62T>G) c.2277T>G (p.Phe759Leu) n.2534T>G c.2044T>G c.*1952T>G (n.*1952T>G) c.*1311T>G (n.*1311T>G) c.*1578T>G (n.*1578T>G) c.*359T>G (n.*359T>G) c.2049T>G (p.Phe683Leu) c.*1873T>G (n.*1873T>G) c.*1924T>G (n.*1924T>G) c.1860T>G (p.Phe620Leu) c.2253T>G (p.Phe751Leu) n.4193T>G c.*2321T>G (n.*2321T>G) c.2607T>G (p.Phe869Leu) c.*1870T>G (n.*1870T>G) c.*1922T>G (n.*1922T>G) c.*2057T>G (n.*2057T>G) c.*1474T>G (n.*1474T>G) c.804-4070T>G (n.804-4070T>G) c.2421T>G (p.Phe807Leu) c.1218T>G (p.Phe406Leu) n.2503T>G c.2415T>G (p.Phe805Leu) c.1488T>G (p.Phe496Leu) c.2466T>G (p.Phe822Leu) c.2310T>G (p.Phe770Leu) c.2112T>G (p.Phe704Leu) n.2465T>G | |
7 | g.5977612A>G | CA453642324 | PMS2 | c.*1817T>C (n.*1817T>C) c.2418T>C (p.Phe806=) c.2313T>C (p.Phe771=) c.1781T>C (n.1781T>C) c.*2015T>C (n.*2015T>C) c.2265T>C (p.Phe755=) c.*1842T>C (n.*1842T>C) c.2223T>C (p.Phe741=) c.*1820T>C (n.*1820T>C) c.*2008T>C (n.*2008T>C) c.*1678T>C (n.*1678T>C) n.3275T>C c.2103T>C (p.Phe701=) c.2016T>C (p.Phe672=) c.1848T>C (p.Phe616=) c.*1511T>C (n.*1511T>C) c.*739T>C (n.*739T>C) c.*1416T>C (n.*1416T>C) c.2454T>C (p.Phe818=) c.*62T>C (n.*62T>C) c.2277T>C (p.Phe759=) n.2534T>C c.2044T>C c.*1952T>C (n.*1952T>C) c.*1311T>C (n.*1311T>C) c.*1578T>C (n.*1578T>C) c.*359T>C (n.*359T>C) c.2049T>C (p.Phe683=) c.*1873T>C (n.*1873T>C) c.*1924T>C (n.*1924T>C) c.1860T>C (p.Phe620=) c.2253T>C (p.Phe751=) n.4193T>C c.*2321T>C (n.*2321T>C) c.2607T>C (p.Phe869=) c.*1870T>C (n.*1870T>C) c.*1922T>C (n.*1922T>C) c.*2057T>C (n.*2057T>C) c.*1474T>C (n.*1474T>C) c.804-4070T>C (n.804-4070T>C) c.2421T>C (p.Phe807=) c.1218T>C (p.Phe406=) n.2503T>C c.2415T>C (p.Phe805=) c.1488T>C (p.Phe496=) c.2466T>C (p.Phe822=) c.2310T>C (p.Phe770=) c.2112T>C (p.Phe704=) n.2465T>C | |
7 | g.5977612A>T | CA366735612 | PMS2 | c.*1817T>A (n.*1817T>A) c.2418T>A (p.Phe806Leu) c.2313T>A (p.Phe771Leu) c.1781T>A (n.1781T>A) c.*2015T>A (n.*2015T>A) c.2265T>A (p.Phe755Leu) c.*1842T>A (n.*1842T>A) c.2223T>A (p.Phe741Leu) c.*1820T>A (n.*1820T>A) c.*2008T>A (n.*2008T>A) c.*1678T>A (n.*1678T>A) n.3275T>A c.2103T>A (p.Phe701Leu) c.2016T>A (p.Phe672Leu) c.1848T>A (p.Phe616Leu) c.*1511T>A (n.*1511T>A) c.*739T>A (n.*739T>A) c.*1416T>A (n.*1416T>A) c.2454T>A (p.Phe818Leu) c.*62T>A (n.*62T>A) c.2277T>A (p.Phe759Leu) n.2534T>A c.2044T>A c.*1952T>A (n.*1952T>A) c.*1311T>A (n.*1311T>A) c.*1578T>A (n.*1578T>A) c.*359T>A (n.*359T>A) c.2049T>A (p.Phe683Leu) c.*1873T>A (n.*1873T>A) c.*1924T>A (n.*1924T>A) c.1860T>A (p.Phe620Leu) c.2253T>A (p.Phe751Leu) n.4193T>A c.*2321T>A (n.*2321T>A) c.2607T>A (p.Phe869Leu) c.*1870T>A (n.*1870T>A) c.*1922T>A (n.*1922T>A) c.*2057T>A (n.*2057T>A) c.*1474T>A (n.*1474T>A) c.804-4070T>A (n.804-4070T>A) c.2421T>A (p.Phe807Leu) c.1218T>A (p.Phe406Leu) n.2503T>A c.2415T>A (p.Phe805Leu) c.1488T>A (p.Phe496Leu) c.2466T>A (p.Phe822Leu) c.2310T>A (p.Phe770Leu) c.2112T>A (p.Phe704Leu) n.2465T>A | dbSNP |
7 | g.5977614del | CA2697553818 | PMS2 | c.*1817del (n.*1817del) c.2418del (p.Phe806LeufsTer10) c.2313del (p.Phe771LeufsTer10) c.1781del (n.1781del) c.*2015del (n.*2015del) c.2265del (p.Phe755LeufsTer10) c.*1842del (n.*1842del) c.2223del (p.Phe741LeufsTer10) c.*1820del (n.*1820del) c.*2008del (n.*2008del) c.*1678del (n.*1678del) n.3275del c.2103del (p.Phe701LeufsTer10) c.2016del (p.Phe672LeufsTer10) c.1848del (p.Phe616LeufsTer10) c.*1511del (n.*1511del) c.*739del (n.*739del) c.*1416del (n.*1416del) c.2454del (p.Phe818LeufsTer10) c.*62del (n.*62del) c.2277del (p.Phe759LeufsTer10) n.2534del c.2044del c.*1952del (n.*1952del) c.*1311del (n.*1311del) c.*1578del (n.*1578del) c.*359del (n.*359del) c.2049del (p.Phe683LeufsTer10) c.*1873del (n.*1873del) c.*1924del (n.*1924del) c.1860del (p.Phe620LeufsTer10) c.2253del (p.Phe751LeufsTer10) n.4193del c.*2321del (n.*2321del) c.2607del (p.Phe869LeufsTer10) c.*1870del (n.*1870del) c.*1922del (n.*1922del) c.*2057del (n.*2057del) c.*1474del (n.*1474del) c.804-4070del (n.804-4070del) c.2421del (p.Phe807LeufsTer10) c.1218del (p.Phe406LeufsTer10) n.2503del c.2415del (p.Phe805LeufsTer10) c.1488del (p.Phe496LeufsTer10) c.2466del (p.Phe822LeufsTer10) c.2310del (p.Phe770LeufsTer10) c.2112del (p.Phe704LeufsTer10) n.2465del | |
7 | g.5977613A>C | CA366735614 | PMS2 | c.*1816T>G (n.*1816T>G) c.2417T>G (p.Phe806Cys) c.2312T>G (p.Phe771Cys) c.1780T>G (n.1780T>G) c.*2014T>G (n.*2014T>G) c.2264T>G (p.Phe755Cys) c.*1841T>G (n.*1841T>G) c.2222T>G (p.Phe741Cys) c.*1819T>G (n.*1819T>G) c.*2007T>G (n.*2007T>G) c.*1677T>G (n.*1677T>G) n.3274T>G c.2102T>G (p.Phe701Cys) c.2015T>G (p.Phe672Cys) c.1847T>G (p.Phe616Cys) c.*1510T>G (n.*1510T>G) c.*738T>G (n.*738T>G) c.*1415T>G (n.*1415T>G) c.2453T>G (p.Phe818Cys) c.*61T>G (n.*61T>G) c.2276T>G (p.Phe759Cys) n.2533T>G c.2043T>G c.*1951T>G (n.*1951T>G) c.*1310T>G (n.*1310T>G) c.*1577T>G (n.*1577T>G) c.*358T>G (n.*358T>G) c.2048T>G (p.Phe683Cys) c.*1872T>G (n.*1872T>G) c.*1923T>G (n.*1923T>G) c.1859T>G (p.Phe620Cys) c.2252T>G (p.Phe751Cys) n.4192T>G c.*2320T>G (n.*2320T>G) c.2606T>G (p.Phe869Cys) c.*1869T>G (n.*1869T>G) c.*1921T>G (n.*1921T>G) c.*2056T>G (n.*2056T>G) c.*1473T>G (n.*1473T>G) c.804-4071T>G (n.804-4071T>G) c.2420T>G (p.Phe807Cys) c.1217T>G (p.Phe406Cys) n.2502T>G c.2414T>G (p.Phe805Cys) c.1487T>G (p.Phe496Cys) c.2465T>G (p.Phe822Cys) c.2309T>G (p.Phe770Cys) c.2111T>G (p.Phe704Cys) n.2464T>G | |
7 | g.5977613A>G | CA366735615 | PMS2 | c.*1816T>C (n.*1816T>C) c.2417T>C (p.Phe806Ser) c.2312T>C (p.Phe771Ser) c.1780T>C (n.1780T>C) c.*2014T>C (n.*2014T>C) c.2264T>C (p.Phe755Ser) c.*1841T>C (n.*1841T>C) c.2222T>C (p.Phe741Ser) c.*1819T>C (n.*1819T>C) c.*2007T>C (n.*2007T>C) c.*1677T>C (n.*1677T>C) n.3274T>C c.2102T>C (p.Phe701Ser) c.2015T>C (p.Phe672Ser) c.1847T>C (p.Phe616Ser) c.*1510T>C (n.*1510T>C) c.*738T>C (n.*738T>C) c.*1415T>C (n.*1415T>C) c.2453T>C (p.Phe818Ser) c.*61T>C (n.*61T>C) c.2276T>C (p.Phe759Ser) n.2533T>C c.2043T>C c.*1951T>C (n.*1951T>C) c.*1310T>C (n.*1310T>C) c.*1577T>C (n.*1577T>C) c.*358T>C (n.*358T>C) c.2048T>C (p.Phe683Ser) c.*1872T>C (n.*1872T>C) c.*1923T>C (n.*1923T>C) c.1859T>C (p.Phe620Ser) c.2252T>C (p.Phe751Ser) n.4192T>C c.*2320T>C (n.*2320T>C) c.2606T>C (p.Phe869Ser) c.*1869T>C (n.*1869T>C) c.*1921T>C (n.*1921T>C) c.*2056T>C (n.*2056T>C) c.*1473T>C (n.*1473T>C) c.804-4071T>C (n.804-4071T>C) c.2420T>C (p.Phe807Ser) c.1217T>C (p.Phe406Ser) n.2502T>C c.2414T>C (p.Phe805Ser) c.1487T>C (p.Phe496Ser) c.2465T>C (p.Phe822Ser) c.2309T>C (p.Phe770Ser) c.2111T>C (p.Phe704Ser) n.2464T>C | |
7 | g.5977613A>T | CA366735616 | PMS2 | c.*1816T>A (n.*1816T>A) c.2417T>A (p.Phe806Tyr) c.2312T>A (p.Phe771Tyr) c.1780T>A (n.1780T>A) c.*2014T>A (n.*2014T>A) c.2264T>A (p.Phe755Tyr) c.*1841T>A (n.*1841T>A) c.2222T>A (p.Phe741Tyr) c.*1819T>A (n.*1819T>A) c.*2007T>A (n.*2007T>A) c.*1677T>A (n.*1677T>A) n.3274T>A c.2102T>A (p.Phe701Tyr) c.2015T>A (p.Phe672Tyr) c.1847T>A (p.Phe616Tyr) c.*1510T>A (n.*1510T>A) c.*738T>A (n.*738T>A) c.*1415T>A (n.*1415T>A) c.2453T>A (p.Phe818Tyr) c.*61T>A (n.*61T>A) c.2276T>A (p.Phe759Tyr) n.2533T>A c.2043T>A c.*1951T>A (n.*1951T>A) c.*1310T>A (n.*1310T>A) c.*1577T>A (n.*1577T>A) c.*358T>A (n.*358T>A) c.2048T>A (p.Phe683Tyr) c.*1872T>A (n.*1872T>A) c.*1923T>A (n.*1923T>A) c.1859T>A (p.Phe620Tyr) c.2252T>A (p.Phe751Tyr) n.4192T>A c.*2320T>A (n.*2320T>A) c.2606T>A (p.Phe869Tyr) c.*1869T>A (n.*1869T>A) c.*1921T>A (n.*1921T>A) c.*2056T>A (n.*2056T>A) c.*1473T>A (n.*1473T>A) c.804-4071T>A (n.804-4071T>A) c.2420T>A (p.Phe807Tyr) c.1217T>A (p.Phe406Tyr) n.2502T>A c.2414T>A (p.Phe805Tyr) c.1487T>A (p.Phe496Tyr) c.2465T>A (p.Phe822Tyr) c.2309T>A (p.Phe770Tyr) c.2111T>A (p.Phe704Tyr) n.2464T>A | dbSNP |
7 | g.5977614A>C | CA366735617 | PMS2 | c.*1815T>G (n.*1815T>G) c.2416T>G (p.Phe806Val) c.2311T>G (p.Phe771Val) c.1779T>G (n.1779T>G) c.*2013T>G (n.*2013T>G) c.2263T>G (p.Phe755Val) c.*1840T>G (n.*1840T>G) c.2221T>G (p.Phe741Val) c.*1818T>G (n.*1818T>G) c.*2006T>G (n.*2006T>G) c.*1676T>G (n.*1676T>G) n.3273T>G c.2101T>G (p.Phe701Val) c.2014T>G (p.Phe672Val) c.1846T>G (p.Phe616Val) c.*1509T>G (n.*1509T>G) c.*737T>G (n.*737T>G) c.*1414T>G (n.*1414T>G) c.2452T>G (p.Phe818Val) c.*60T>G (n.*60T>G) c.2275T>G (p.Phe759Val) n.2532T>G c.2042T>G c.*1950T>G (n.*1950T>G) c.*1309T>G (n.*1309T>G) c.*1576T>G (n.*1576T>G) c.*357T>G (n.*357T>G) c.2047T>G (p.Phe683Val) c.*1871T>G (n.*1871T>G) c.*1922T>G (n.*1922T>G) c.1858T>G (p.Phe620Val) c.2251T>G (p.Phe751Val) n.4191T>G c.*2319T>G (n.*2319T>G) c.2605T>G (p.Phe869Val) c.*1868T>G (n.*1868T>G) c.*1920T>G (n.*1920T>G) c.*2055T>G (n.*2055T>G) c.*1472T>G (n.*1472T>G) c.804-4072T>G (n.804-4072T>G) c.2419T>G (p.Phe807Val) c.1216T>G (p.Phe406Val) n.2501T>G c.2413T>G (p.Phe805Val) c.1486T>G (p.Phe496Val) c.2464T>G (p.Phe822Val) c.2308T>G (p.Phe770Val) c.2110T>G (p.Phe704Val) n.2463T>G | |
7 | g.5977614A>G | CA366735619 | PMS2 | c.*1815T>C (n.*1815T>C) c.2416T>C (p.Phe806Leu) c.2311T>C (p.Phe771Leu) c.1779T>C (n.1779T>C) c.*2013T>C (n.*2013T>C) c.2263T>C (p.Phe755Leu) c.*1840T>C (n.*1840T>C) c.2221T>C (p.Phe741Leu) c.*1818T>C (n.*1818T>C) c.*2006T>C (n.*2006T>C) c.*1676T>C (n.*1676T>C) n.3273T>C c.2101T>C (p.Phe701Leu) c.2014T>C (p.Phe672Leu) c.1846T>C (p.Phe616Leu) c.*1509T>C (n.*1509T>C) c.*737T>C (n.*737T>C) c.*1414T>C (n.*1414T>C) c.2452T>C (p.Phe818Leu) c.*60T>C (n.*60T>C) c.2275T>C (p.Phe759Leu) n.2532T>C c.2042T>C c.*1950T>C (n.*1950T>C) c.*1309T>C (n.*1309T>C) c.*1576T>C (n.*1576T>C) c.*357T>C (n.*357T>C) c.2047T>C (p.Phe683Leu) c.*1871T>C (n.*1871T>C) c.*1922T>C (n.*1922T>C) c.1858T>C (p.Phe620Leu) c.2251T>C (p.Phe751Leu) n.4191T>C c.*2319T>C (n.*2319T>C) c.2605T>C (p.Phe869Leu) c.*1868T>C (n.*1868T>C) c.*1920T>C (n.*1920T>C) c.*2055T>C (n.*2055T>C) c.*1472T>C (n.*1472T>C) c.804-4072T>C (n.804-4072T>C) c.2419T>C (p.Phe807Leu) c.1216T>C (p.Phe406Leu) n.2501T>C c.2413T>C (p.Phe805Leu) c.1486T>C (p.Phe496Leu) c.2464T>C (p.Phe822Leu) c.2308T>C (p.Phe770Leu) c.2110T>C (p.Phe704Leu) n.2463T>C | ClinVar dbSNP |
7 | g.5977614A>T | CA366735621 | PMS2 | c.*1815T>A (n.*1815T>A) c.2416T>A (p.Phe806Ile) c.2311T>A (p.Phe771Ile) c.1779T>A (n.1779T>A) c.*2013T>A (n.*2013T>A) c.2263T>A (p.Phe755Ile) c.*1840T>A (n.*1840T>A) c.2221T>A (p.Phe741Ile) c.*1818T>A (n.*1818T>A) c.*2006T>A (n.*2006T>A) c.*1676T>A (n.*1676T>A) n.3273T>A c.2101T>A (p.Phe701Ile) c.2014T>A (p.Phe672Ile) c.1846T>A (p.Phe616Ile) c.*1509T>A (n.*1509T>A) c.*737T>A (n.*737T>A) c.*1414T>A (n.*1414T>A) c.2452T>A (p.Phe818Ile) c.*60T>A (n.*60T>A) c.2275T>A (p.Phe759Ile) n.2532T>A c.2042T>A c.*1950T>A (n.*1950T>A) c.*1309T>A (n.*1309T>A) c.*1576T>A (n.*1576T>A) c.*357T>A (n.*357T>A) c.2047T>A (p.Phe683Ile) c.*1871T>A (n.*1871T>A) c.*1922T>A (n.*1922T>A) c.1858T>A (p.Phe620Ile) c.2251T>A (p.Phe751Ile) n.4191T>A c.*2319T>A (n.*2319T>A) c.2605T>A (p.Phe869Ile) c.*1868T>A (n.*1868T>A) c.*1920T>A (n.*1920T>A) c.*2055T>A (n.*2055T>A) c.*1472T>A (n.*1472T>A) c.804-4072T>A (n.804-4072T>A) c.2419T>A (p.Phe807Ile) c.1216T>A (p.Phe406Ile) n.2501T>A c.2413T>A (p.Phe805Ile) c.1486T>A (p.Phe496Ile) c.2464T>A (p.Phe822Ile) c.2308T>A (p.Phe770Ile) c.2110T>A (p.Phe704Ile) n.2463T>A | dbSNP |
7 | g.5977615C>A | CA366735622 | PMS2 | c.*1814G>T (n.*1814G>T) c.2415G>T (p.Met805Ile) c.2310G>T (p.Met770Ile) c.1778G>T (n.1778G>T) c.*2012G>T (n.*2012G>T) c.2262G>T (p.Met754Ile) c.*1839G>T (n.*1839G>T) c.2220G>T (p.Met740Ile) c.*1817G>T (n.*1817G>T) c.*2005G>T (n.*2005G>T) c.*1675G>T (n.*1675G>T) n.3272G>T c.2100G>T (p.Met700Ile) c.2013G>T (p.Met671Ile) c.1845G>T (p.Met615Ile) c.*1508G>T (n.*1508G>T) c.*736G>T (n.*736G>T) c.*1413G>T (n.*1413G>T) c.2451G>T (p.Met817Ile) c.*59G>T (n.*59G>T) c.2274G>T (p.Met758Ile) n.2531G>T c.2041G>T c.*1949G>T (n.*1949G>T) c.*1308G>T (n.*1308G>T) c.*1575G>T (n.*1575G>T) c.*356G>T (n.*356G>T) c.2046G>T (p.Met682Ile) c.*1870G>T (n.*1870G>T) c.*1921G>T (n.*1921G>T) c.1857G>T (p.Met619Ile) c.2250G>T (p.Met750Ile) n.4190G>T c.*2318G>T (n.*2318G>T) c.2604G>T (p.Met868Ile) c.*1867G>T (n.*1867G>T) c.*1919G>T (n.*1919G>T) c.*2054G>T (n.*2054G>T) c.*1471G>T (n.*1471G>T) c.804-4073G>T (n.804-4073G>T) c.2418G>T (p.Met806Ile) c.1215G>T (p.Met405Ile) n.2500G>T c.2412G>T (p.Met804Ile) c.1485G>T (p.Met495Ile) c.2463G>T (p.Met821Ile) c.2307G>T (p.Met769Ile) c.2109G>T (p.Met703Ile) n.2462G>T | |
7 | g.5977615C= | CA1685250062 | PMS2 | c.*1814G= (n.*1814G=) c.2415G= (p.Met805=) c.2310G= (p.Met770=) c.1778G= (n.1778G=) c.*2012G= (n.*2012G=) c.2262G= (p.Met754=) c.*1839G= (n.*1839G=) c.2220G= (p.Met740=) c.*1817G= (n.*1817G=) c.*2005G= (n.*2005G=) c.*1675G= (n.*1675G=) n.3272G= c.2100G= (p.Met700=) c.2013G= (p.Met671=) c.1845G= (p.Met615=) c.*1508G= (n.*1508G=) c.*736G= (n.*736G=) c.*1413G= (n.*1413G=) c.2451G= (p.Met817=) c.*59G= (n.*59G=) c.2274G= (p.Met758=) n.2531G= c.2041G= c.*1949G= (n.*1949G=) c.*1308G= (n.*1308G=) c.*1575G= (n.*1575G=) c.*356G= (n.*356G=) c.2046G= (p.Met682=) c.*1870G= (n.*1870G=) c.*1921G= (n.*1921G=) c.1857G= (p.Met619=) c.2250G= (p.Met750=) n.4190G= c.*2318G= (n.*2318G=) c.2604G= (p.Met868=) c.*1867G= (n.*1867G=) c.*1919G= (n.*1919G=) c.*2054G= (n.*2054G=) c.*1471G= (n.*1471G=) c.804-4073G= (n.804-4073G=) c.2418G= (p.Met806=) c.1215G= (p.Met405=) n.2500G= c.2412G= (p.Met804=) c.1485G= (p.Met495=) c.2463G= (p.Met821=) c.2307G= (p.Met769=) c.2109G= (p.Met703=) n.2462G= | |
7 | g.5977615C>G | CA366735624 | PMS2 | c.*1814G>C (n.*1814G>C) c.2415G>C (p.Met805Ile) c.2310G>C (p.Met770Ile) c.1778G>C (n.1778G>C) c.*2012G>C (n.*2012G>C) c.2262G>C (p.Met754Ile) c.*1839G>C (n.*1839G>C) c.2220G>C (p.Met740Ile) c.*1817G>C (n.*1817G>C) c.*2005G>C (n.*2005G>C) c.*1675G>C (n.*1675G>C) n.3272G>C c.2100G>C (p.Met700Ile) c.2013G>C (p.Met671Ile) c.1845G>C (p.Met615Ile) c.*1508G>C (n.*1508G>C) c.*736G>C (n.*736G>C) c.*1413G>C (n.*1413G>C) c.2451G>C (p.Met817Ile) c.*59G>C (n.*59G>C) c.2274G>C (p.Met758Ile) n.2531G>C c.2041G>C c.*1949G>C (n.*1949G>C) c.*1308G>C (n.*1308G>C) c.*1575G>C (n.*1575G>C) c.*356G>C (n.*356G>C) c.2046G>C (p.Met682Ile) c.*1870G>C (n.*1870G>C) c.*1921G>C (n.*1921G>C) c.1857G>C (p.Met619Ile) c.2250G>C (p.Met750Ile) n.4190G>C c.*2318G>C (n.*2318G>C) c.2604G>C (p.Met868Ile) c.*1867G>C (n.*1867G>C) c.*1919G>C (n.*1919G>C) c.*2054G>C (n.*2054G>C) c.*1471G>C (n.*1471G>C) c.804-4073G>C (n.804-4073G>C) c.2418G>C (p.Met806Ile) c.1215G>C (p.Met405Ile) n.2500G>C c.2412G>C (p.Met804Ile) c.1485G>C (p.Met495Ile) c.2463G>C (p.Met821Ile) c.2307G>C (p.Met769Ile) c.2109G>C (p.Met703Ile) n.2462G>C | dbSNP |
7 | g.5977615C>T | CA011467 | PMS2 | c.*1814G>A (n.*1814G>A) c.2415G>A (p.Met805Ile) c.2310G>A (p.Met770Ile) c.1778G>A (n.1778G>A) c.*2012G>A (n.*2012G>A) c.2262G>A (p.Met754Ile) c.*1839G>A (n.*1839G>A) c.2220G>A (p.Met740Ile) c.*1817G>A (n.*1817G>A) c.*2005G>A (n.*2005G>A) c.*1675G>A (n.*1675G>A) n.3272G>A c.2100G>A (p.Met700Ile) c.2013G>A (p.Met671Ile) c.1845G>A (p.Met615Ile) c.*1508G>A (n.*1508G>A) c.*736G>A (n.*736G>A) c.*1413G>A (n.*1413G>A) c.2451G>A (p.Met817Ile) c.*59G>A (n.*59G>A) c.2274G>A (p.Met758Ile) n.2531G>A c.2041G>A c.*1949G>A (n.*1949G>A) c.*1308G>A (n.*1308G>A) c.*1575G>A (n.*1575G>A) c.*356G>A (n.*356G>A) c.2046G>A (p.Met682Ile) c.*1870G>A (n.*1870G>A) c.*1921G>A (n.*1921G>A) c.1857G>A (p.Met619Ile) c.2250G>A (p.Met750Ile) n.4190G>A c.*2318G>A (n.*2318G>A) c.2604G>A (p.Met868Ile) c.*1867G>A (n.*1867G>A) c.*1919G>A (n.*1919G>A) c.*2054G>A (n.*2054G>A) c.*1471G>A (n.*1471G>A) c.804-4073G>A (n.804-4073G>A) c.2418G>A (p.Met806Ile) c.1215G>A (p.Met405Ile) n.2500G>A c.2412G>A (p.Met804Ile) c.1485G>A (p.Met495Ile) c.2463G>A (p.Met821Ile) c.2307G>A (p.Met769Ile) c.2109G>A (p.Met703Ile) n.2462G>A | ClinVar dbSNP gnomAD v4 |
7 | g.5977616A= | CA1685250070 | PMS2 | c.*1813T= (n.*1813T=) c.2414T= (p.Met805=) c.2309T= (p.Met770=) c.1777T= (n.1777T=) c.*2011T= (n.*2011T=) c.2261T= (p.Met754=) c.*1838T= (n.*1838T=) c.2219T= (p.Met740=) c.*1816T= (n.*1816T=) c.*2004T= (n.*2004T=) c.*1674T= (n.*1674T=) n.3271T= c.2099T= (p.Met700=) c.2012T= (p.Met671=) c.1844T= (p.Met615=) c.*1507T= (n.*1507T=) c.*735T= (n.*735T=) c.*1412T= (n.*1412T=) c.2450T= (p.Met817=) c.*58T= (n.*58T=) c.2273T= (p.Met758=) n.2530T= c.2040T= c.*1948T= (n.*1948T=) c.*1307T= (n.*1307T=) c.*1574T= (n.*1574T=) c.*355T= (n.*355T=) c.2045T= (p.Met682=) c.*1869T= (n.*1869T=) c.*1920T= (n.*1920T=) c.1856T= (p.Met619=) c.2249T= (p.Met750=) n.4189T= c.*2317T= (n.*2317T=) c.2603T= (p.Met868=) c.*1866T= (n.*1866T=) c.*1918T= (n.*1918T=) c.*2053T= (n.*2053T=) c.*1470T= (n.*1470T=) c.804-4074T= (n.804-4074T=) c.2417T= (p.Met806=) c.1214T= (p.Met405=) n.2499T= c.2411T= (p.Met804=) c.1484T= (p.Met495=) c.2462T= (p.Met821=) c.2306T= (p.Met769=) c.2108T= (p.Met703=) n.2461T= | |
7 | g.5977616A>C | CA366735628 | PMS2 | c.*1813T>G (n.*1813T>G) c.2414T>G (p.Met805Arg) c.2309T>G (p.Met770Arg) c.1777T>G (n.1777T>G) c.*2011T>G (n.*2011T>G) c.2261T>G (p.Met754Arg) c.*1838T>G (n.*1838T>G) c.2219T>G (p.Met740Arg) c.*1816T>G (n.*1816T>G) c.*2004T>G (n.*2004T>G) c.*1674T>G (n.*1674T>G) n.3271T>G c.2099T>G (p.Met700Arg) c.2012T>G (p.Met671Arg) c.1844T>G (p.Met615Arg) c.*1507T>G (n.*1507T>G) c.*735T>G (n.*735T>G) c.*1412T>G (n.*1412T>G) c.2450T>G (p.Met817Arg) c.*58T>G (n.*58T>G) c.2273T>G (p.Met758Arg) n.2530T>G c.2040T>G c.*1948T>G (n.*1948T>G) c.*1307T>G (n.*1307T>G) c.*1574T>G (n.*1574T>G) c.*355T>G (n.*355T>G) c.2045T>G (p.Met682Arg) c.*1869T>G (n.*1869T>G) c.*1920T>G (n.*1920T>G) c.1856T>G (p.Met619Arg) c.2249T>G (p.Met750Arg) n.4189T>G c.*2317T>G (n.*2317T>G) c.2603T>G (p.Met868Arg) c.*1866T>G (n.*1866T>G) c.*1918T>G (n.*1918T>G) c.*2053T>G (n.*2053T>G) c.*1470T>G (n.*1470T>G) c.804-4074T>G (n.804-4074T>G) c.2417T>G (p.Met806Arg) c.1214T>G (p.Met405Arg) n.2499T>G c.2411T>G (p.Met804Arg) c.1484T>G (p.Met495Arg) c.2462T>G (p.Met821Arg) c.2306T>G (p.Met769Arg) c.2108T>G (p.Met703Arg) n.2461T>G | |
7 | g.5977616A>G | CA366735627 | PMS2 | c.*1813T>C (n.*1813T>C) c.2414T>C (p.Met805Thr) c.2309T>C (p.Met770Thr) c.1777T>C (n.1777T>C) c.*2011T>C (n.*2011T>C) c.2261T>C (p.Met754Thr) c.*1838T>C (n.*1838T>C) c.2219T>C (p.Met740Thr) c.*1816T>C (n.*1816T>C) c.*2004T>C (n.*2004T>C) c.*1674T>C (n.*1674T>C) n.3271T>C c.2099T>C (p.Met700Thr) c.2012T>C (p.Met671Thr) c.1844T>C (p.Met615Thr) c.*1507T>C (n.*1507T>C) c.*735T>C (n.*735T>C) c.*1412T>C (n.*1412T>C) c.2450T>C (p.Met817Thr) c.*58T>C (n.*58T>C) c.2273T>C (p.Met758Thr) n.2530T>C c.2040T>C c.*1948T>C (n.*1948T>C) c.*1307T>C (n.*1307T>C) c.*1574T>C (n.*1574T>C) c.*355T>C (n.*355T>C) c.2045T>C (p.Met682Thr) c.*1869T>C (n.*1869T>C) c.*1920T>C (n.*1920T>C) c.1856T>C (p.Met619Thr) c.2249T>C (p.Met750Thr) n.4189T>C c.*2317T>C (n.*2317T>C) c.2603T>C (p.Met868Thr) c.*1866T>C (n.*1866T>C) c.*1918T>C (n.*1918T>C) c.*2053T>C (n.*2053T>C) c.*1470T>C (n.*1470T>C) c.804-4074T>C (n.804-4074T>C) c.2417T>C (p.Met806Thr) c.1214T>C (p.Met405Thr) n.2499T>C c.2411T>C (p.Met804Thr) c.1484T>C (p.Met495Thr) c.2462T>C (p.Met821Thr) c.2306T>C (p.Met769Thr) c.2108T>C (p.Met703Thr) n.2461T>C | ClinVar dbSNP gnomAD v4 |
7 | g.5977616A>T | CA366735625 | PMS2 | c.*1813T>A (n.*1813T>A) c.2414T>A (p.Met805Lys) c.2309T>A (p.Met770Lys) c.1777T>A (n.1777T>A) c.*2011T>A (n.*2011T>A) c.2261T>A (p.Met754Lys) c.*1838T>A (n.*1838T>A) c.2219T>A (p.Met740Lys) c.*1816T>A (n.*1816T>A) c.*2004T>A (n.*2004T>A) c.*1674T>A (n.*1674T>A) n.3271T>A c.2099T>A (p.Met700Lys) c.2012T>A (p.Met671Lys) c.1844T>A (p.Met615Lys) c.*1507T>A (n.*1507T>A) c.*735T>A (n.*735T>A) c.*1412T>A (n.*1412T>A) c.2450T>A (p.Met817Lys) c.*58T>A (n.*58T>A) c.2273T>A (p.Met758Lys) n.2530T>A c.2040T>A c.*1948T>A (n.*1948T>A) c.*1307T>A (n.*1307T>A) c.*1574T>A (n.*1574T>A) c.*355T>A (n.*355T>A) c.2045T>A (p.Met682Lys) c.*1869T>A (n.*1869T>A) c.*1920T>A (n.*1920T>A) c.1856T>A (p.Met619Lys) c.2249T>A (p.Met750Lys) n.4189T>A c.*2317T>A (n.*2317T>A) c.2603T>A (p.Met868Lys) c.*1866T>A (n.*1866T>A) c.*1918T>A (n.*1918T>A) c.*2053T>A (n.*2053T>A) c.*1470T>A (n.*1470T>A) c.804-4074T>A (n.804-4074T>A) c.2417T>A (p.Met806Lys) c.1214T>A (p.Met405Lys) n.2499T>A c.2411T>A (p.Met804Lys) c.1484T>A (p.Met495Lys) c.2462T>A (p.Met821Lys) c.2306T>A (p.Met769Lys) c.2108T>A (p.Met703Lys) n.2461T>A | dbSNP gnomAD v4 |
7 | g.5977617T>A | CA366735632 | PMS2 | c.*1812A>T (n.*1812A>T) c.2413A>T (p.Met805Leu) c.2308A>T (p.Met770Leu) c.1776A>T (n.1776A>T) c.*2010A>T (n.*2010A>T) c.2260A>T (p.Met754Leu) c.*1837A>T (n.*1837A>T) c.2218A>T (p.Met740Leu) c.*1815A>T (n.*1815A>T) c.*2003A>T (n.*2003A>T) c.*1673A>T (n.*1673A>T) n.3270A>T c.2098A>T (p.Met700Leu) c.2011A>T (p.Met671Leu) c.1843A>T (p.Met615Leu) c.*1506A>T (n.*1506A>T) c.*734A>T (n.*734A>T) c.*1411A>T (n.*1411A>T) c.2449A>T (p.Met817Leu) c.*57A>T (n.*57A>T) c.2272A>T (p.Met758Leu) n.2529A>T c.2039A>T c.*1947A>T (n.*1947A>T) c.*1306A>T (n.*1306A>T) c.*1573A>T (n.*1573A>T) c.*354A>T (n.*354A>T) c.2044A>T (p.Met682Leu) c.*1868A>T (n.*1868A>T) c.*1919A>T (n.*1919A>T) c.1855A>T (p.Met619Leu) c.2248A>T (p.Met750Leu) n.4188A>T c.*2316A>T (n.*2316A>T) c.2602A>T (p.Met868Leu) c.*1865A>T (n.*1865A>T) c.*1917A>T (n.*1917A>T) c.*2052A>T (n.*2052A>T) c.*1469A>T (n.*1469A>T) c.804-4075A>T (n.804-4075A>T) c.2416A>T (p.Met806Leu) c.1213A>T (p.Met405Leu) n.2498A>T c.2410A>T (p.Met804Leu) c.1483A>T (p.Met495Leu) c.2461A>T (p.Met821Leu) c.2305A>T (p.Met769Leu) c.2107A>T (p.Met703Leu) n.2460A>T | ClinVar dbSNP gnomAD v4 |
7 | g.5977617T>C | CA366735630 | PMS2 | c.*1812A>G (n.*1812A>G) c.2413A>G (p.Met805Val) c.2308A>G (p.Met770Val) c.1776A>G (n.1776A>G) c.*2010A>G (n.*2010A>G) c.2260A>G (p.Met754Val) c.*1837A>G (n.*1837A>G) c.2218A>G (p.Met740Val) c.*1815A>G (n.*1815A>G) c.*2003A>G (n.*2003A>G) c.*1673A>G (n.*1673A>G) n.3270A>G c.2098A>G (p.Met700Val) c.2011A>G (p.Met671Val) c.1843A>G (p.Met615Val) c.*1506A>G (n.*1506A>G) c.*734A>G (n.*734A>G) c.*1411A>G (n.*1411A>G) c.2449A>G (p.Met817Val) c.*57A>G (n.*57A>G) c.2272A>G (p.Met758Val) n.2529A>G c.2039A>G c.*1947A>G (n.*1947A>G) c.*1306A>G (n.*1306A>G) c.*1573A>G (n.*1573A>G) c.*354A>G (n.*354A>G) c.2044A>G (p.Met682Val) c.*1868A>G (n.*1868A>G) c.*1919A>G (n.*1919A>G) c.1855A>G (p.Met619Val) c.2248A>G (p.Met750Val) n.4188A>G c.*2316A>G (n.*2316A>G) c.2602A>G (p.Met868Val) c.*1865A>G (n.*1865A>G) c.*1917A>G (n.*1917A>G) c.*2052A>G (n.*2052A>G) c.*1469A>G (n.*1469A>G) c.804-4075A>G (n.804-4075A>G) c.2416A>G (p.Met806Val) c.1213A>G (p.Met405Val) n.2498A>G c.2410A>G (p.Met804Val) c.1483A>G (p.Met495Val) c.2461A>G (p.Met821Val) c.2305A>G (p.Met769Val) c.2107A>G (p.Met703Val) n.2460A>G | ClinVar dbSNP |
7 | g.5977617T>G | CA366735631 | PMS2 | c.*1812A>C (n.*1812A>C) c.2413A>C (p.Met805Leu) c.2308A>C (p.Met770Leu) c.1776A>C (n.1776A>C) c.*2010A>C (n.*2010A>C) c.2260A>C (p.Met754Leu) c.*1837A>C (n.*1837A>C) c.2218A>C (p.Met740Leu) c.*1815A>C (n.*1815A>C) c.*2003A>C (n.*2003A>C) c.*1673A>C (n.*1673A>C) n.3270A>C c.2098A>C (p.Met700Leu) c.2011A>C (p.Met671Leu) c.1843A>C (p.Met615Leu) c.*1506A>C (n.*1506A>C) c.*734A>C (n.*734A>C) c.*1411A>C (n.*1411A>C) c.2449A>C (p.Met817Leu) c.*57A>C (n.*57A>C) c.2272A>C (p.Met758Leu) n.2529A>C c.2039A>C c.*1947A>C (n.*1947A>C) c.*1306A>C (n.*1306A>C) c.*1573A>C (n.*1573A>C) c.*354A>C (n.*354A>C) c.2044A>C (p.Met682Leu) c.*1868A>C (n.*1868A>C) c.*1919A>C (n.*1919A>C) c.1855A>C (p.Met619Leu) c.2248A>C (p.Met750Leu) n.4188A>C c.*2316A>C (n.*2316A>C) c.2602A>C (p.Met868Leu) c.*1865A>C (n.*1865A>C) c.*1917A>C (n.*1917A>C) c.*2052A>C (n.*2052A>C) c.*1469A>C (n.*1469A>C) c.804-4075A>C (n.804-4075A>C) c.2416A>C (p.Met806Leu) c.1213A>C (p.Met405Leu) n.2498A>C c.2410A>C (p.Met804Leu) c.1483A>C (p.Met495Leu) c.2461A>C (p.Met821Leu) c.2305A>C (p.Met769Leu) c.2107A>C (p.Met703Leu) n.2460A>C | ClinVar |
7 | g.5977617T= | CA1685250076 | PMS2 | c.*1812A= (n.*1812A=) c.2413A= (p.Met805=) c.2308A= (p.Met770=) c.1776A= (n.1776A=) c.*2010A= (n.*2010A=) c.2260A= (p.Met754=) c.*1837A= (n.*1837A=) c.2218A= (p.Met740=) c.*1815A= (n.*1815A=) c.*2003A= (n.*2003A=) c.*1673A= (n.*1673A=) n.3270A= c.2098A= (p.Met700=) c.2011A= (p.Met671=) c.1843A= (p.Met615=) c.*1506A= (n.*1506A=) c.*734A= (n.*734A=) c.*1411A= (n.*1411A=) c.2449A= (p.Met817=) c.*57A= (n.*57A=) c.2272A= (p.Met758=) n.2529A= c.2039A= c.*1947A= (n.*1947A=) c.*1306A= (n.*1306A=) c.*1573A= (n.*1573A=) c.*354A= (n.*354A=) c.2044A= (p.Met682=) c.*1868A= (n.*1868A=) c.*1919A= (n.*1919A=) c.1855A= (p.Met619=) c.2248A= (p.Met750=) n.4188A= c.*2316A= (n.*2316A=) c.2602A= (p.Met868=) c.*1865A= (n.*1865A=) c.*1917A= (n.*1917A=) c.*2052A= (n.*2052A=) c.*1469A= (n.*1469A=) c.804-4075A= (n.804-4075A=) c.2416A= (p.Met806=) c.1213A= (p.Met405=) n.2498A= c.2410A= (p.Met804=) c.1483A= (p.Met495=) c.2461A= (p.Met821=) c.2305A= (p.Met769=) c.2107A= (p.Met703=) n.2460A= | |
7 | g.5977618C>A | CA366735633 | PMS2 | c.*1811G>T (n.*1811G>T) c.2412G>T (p.Gln804His) c.2307G>T (p.Gln769His) c.1775G>T (n.1775G>T) c.*2009G>T (n.*2009G>T) c.2259G>T (p.Gln753His) c.*1836G>T (n.*1836G>T) c.2217G>T (p.Gln739His) c.*1814G>T (n.*1814G>T) c.*2002G>T (n.*2002G>T) c.*1672G>T (n.*1672G>T) n.3269G>T c.2097G>T (p.Gln699His) c.2010G>T (p.Gln670His) c.1842G>T (p.Gln614His) c.*1505G>T (n.*1505G>T) c.*733G>T (n.*733G>T) c.*1410G>T (n.*1410G>T) c.2448G>T (p.Gln816His) c.*56G>T (n.*56G>T) c.2271G>T (p.Gln757His) n.2528G>T c.2038G>T c.*1946G>T (n.*1946G>T) c.*1305G>T (n.*1305G>T) c.*1572G>T (n.*1572G>T) c.*353G>T (n.*353G>T) c.2043G>T (p.Gln681His) c.*1867G>T (n.*1867G>T) c.*1918G>T (n.*1918G>T) c.1854G>T (p.Gln618His) c.2247G>T (p.Gln749His) n.4187G>T c.*2315G>T (n.*2315G>T) c.2601G>T (p.Gln867His) c.*1864G>T (n.*1864G>T) c.*1916G>T (n.*1916G>T) c.*2051G>T (n.*2051G>T) c.*1468G>T (n.*1468G>T) c.804-4076G>T (n.804-4076G>T) c.2415G>T (p.Gln805His) c.1212G>T (p.Gln404His) n.2497G>T c.2409G>T (p.Gln803His) c.1482G>T (p.Gln494His) c.2460G>T (p.Gln820His) c.2304G>T (p.Gln768His) c.2106G>T (p.Gln702His) n.2459G>T | |
7 | g.5977618C= | CA1685250081 | PMS2 | c.*1811G= (n.*1811G=) c.2412G= (p.Gln804=) c.2307G= (p.Gln769=) c.1775G= (n.1775G=) c.*2009G= (n.*2009G=) c.2259G= (p.Gln753=) c.*1836G= (n.*1836G=) c.2217G= (p.Gln739=) c.*1814G= (n.*1814G=) c.*2002G= (n.*2002G=) c.*1672G= (n.*1672G=) n.3269G= c.2097G= (p.Gln699=) c.2010G= (p.Gln670=) c.1842G= (p.Gln614=) c.*1505G= (n.*1505G=) c.*733G= (n.*733G=) c.*1410G= (n.*1410G=) c.2448G= (p.Gln816=) c.*56G= (n.*56G=) c.2271G= (p.Gln757=) n.2528G= c.2038G= c.*1946G= (n.*1946G=) c.*1305G= (n.*1305G=) c.*1572G= (n.*1572G=) c.*353G= (n.*353G=) c.2043G= (p.Gln681=) c.*1867G= (n.*1867G=) c.*1918G= (n.*1918G=) c.1854G= (p.Gln618=) c.2247G= (p.Gln749=) n.4187G= c.*2315G= (n.*2315G=) c.2601G= (p.Gln867=) c.*1864G= (n.*1864G=) c.*1916G= (n.*1916G=) c.*2051G= (n.*2051G=) c.*1468G= (n.*1468G=) c.804-4076G= (n.804-4076G=) c.2415G= (p.Gln805=) c.1212G= (p.Gln404=) n.2497G= c.2409G= (p.Gln803=) c.1482G= (p.Gln494=) c.2460G= (p.Gln820=) c.2304G= (p.Gln768=) c.2106G= (p.Gln702=) n.2459G= | |
7 | g.5977618C>G | CA366735634 | PMS2 | c.*1811G>C (n.*1811G>C) c.2412G>C (p.Gln804His) c.2307G>C (p.Gln769His) c.1775G>C (n.1775G>C) c.*2009G>C (n.*2009G>C) c.2259G>C (p.Gln753His) c.*1836G>C (n.*1836G>C) c.2217G>C (p.Gln739His) c.*1814G>C (n.*1814G>C) c.*2002G>C (n.*2002G>C) c.*1672G>C (n.*1672G>C) n.3269G>C c.2097G>C (p.Gln699His) c.2010G>C (p.Gln670His) c.1842G>C (p.Gln614His) c.*1505G>C (n.*1505G>C) c.*733G>C (n.*733G>C) c.*1410G>C (n.*1410G>C) c.2448G>C (p.Gln816His) c.*56G>C (n.*56G>C) c.2271G>C (p.Gln757His) n.2528G>C c.2038G>C c.*1946G>C (n.*1946G>C) c.*1305G>C (n.*1305G>C) c.*1572G>C (n.*1572G>C) c.*353G>C (n.*353G>C) c.2043G>C (p.Gln681His) c.*1867G>C (n.*1867G>C) c.*1918G>C (n.*1918G>C) c.1854G>C (p.Gln618His) c.2247G>C (p.Gln749His) n.4187G>C c.*2315G>C (n.*2315G>C) c.2601G>C (p.Gln867His) c.*1864G>C (n.*1864G>C) c.*1916G>C (n.*1916G>C) c.*2051G>C (n.*2051G>C) c.*1468G>C (n.*1468G>C) c.804-4076G>C (n.804-4076G>C) c.2415G>C (p.Gln805His) c.1212G>C (p.Gln404His) n.2497G>C c.2409G>C (p.Gln803His) c.1482G>C (p.Gln494His) c.2460G>C (p.Gln820His) c.2304G>C (p.Gln768His) c.2106G>C (p.Gln702His) n.2459G>C | dbSNP |
7 | g.5977618C>T | CA048082 | PMS2 | c.*1811G>A (n.*1811G>A) c.2412G>A (p.Gln804=) c.2307G>A (p.Gln769=) c.1775G>A (n.1775G>A) c.*2009G>A (n.*2009G>A) c.2259G>A (p.Gln753=) c.*1836G>A (n.*1836G>A) c.2217G>A (p.Gln739=) c.*1814G>A (n.*1814G>A) c.*2002G>A (n.*2002G>A) c.*1672G>A (n.*1672G>A) n.3269G>A c.2097G>A (p.Gln699=) c.2010G>A (p.Gln670=) c.1842G>A (p.Gln614=) c.*1505G>A (n.*1505G>A) c.*733G>A (n.*733G>A) c.*1410G>A (n.*1410G>A) c.2448G>A (p.Gln816=) c.*56G>A (n.*56G>A) c.2271G>A (p.Gln757=) n.2528G>A c.2038G>A c.*1946G>A (n.*1946G>A) c.*1305G>A (n.*1305G>A) c.*1572G>A (n.*1572G>A) c.*353G>A (n.*353G>A) c.2043G>A (p.Gln681=) c.*1867G>A (n.*1867G>A) c.*1918G>A (n.*1918G>A) c.1854G>A (p.Gln618=) c.2247G>A (p.Gln749=) n.4187G>A c.*2315G>A (n.*2315G>A) c.2601G>A (p.Gln867=) c.*1864G>A (n.*1864G>A) c.*1916G>A (n.*1916G>A) c.*2051G>A (n.*2051G>A) c.*1468G>A (n.*1468G>A) c.804-4076G>A (n.804-4076G>A) c.2415G>A (p.Gln805=) c.1212G>A (p.Gln404=) n.2497G>A c.2409G>A (p.Gln803=) c.1482G>A (p.Gln494=) c.2460G>A (p.Gln820=) c.2304G>A (p.Gln768=) c.2106G>A (p.Gln702=) n.2459G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5977619T>A | CA366735637 | PMS2 | c.*1810A>T (n.*1810A>T) c.2411A>T (p.Gln804Leu) c.2306A>T (p.Gln769Leu) c.1774A>T (n.1774A>T) c.*2008A>T (n.*2008A>T) c.2258A>T (p.Gln753Leu) c.*1835A>T (n.*1835A>T) c.2216A>T (p.Gln739Leu) c.*1813A>T (n.*1813A>T) c.*2001A>T (n.*2001A>T) c.*1671A>T (n.*1671A>T) n.3268A>T c.2096A>T (p.Gln699Leu) c.2009A>T (p.Gln670Leu) c.1841A>T (p.Gln614Leu) c.*1504A>T (n.*1504A>T) c.*732A>T (n.*732A>T) c.*1409A>T (n.*1409A>T) c.2447A>T (p.Gln816Leu) c.*55A>T (n.*55A>T) c.2270A>T (p.Gln757Leu) n.2527A>T c.2037A>T c.*1945A>T (n.*1945A>T) c.*1304A>T (n.*1304A>T) c.*1571A>T (n.*1571A>T) c.*352A>T (n.*352A>T) c.2042A>T (p.Gln681Leu) c.*1866A>T (n.*1866A>T) c.*1917A>T (n.*1917A>T) c.1853A>T (p.Gln618Leu) c.2246A>T (p.Gln749Leu) n.4186A>T c.*2314A>T (n.*2314A>T) c.2600A>T (p.Gln867Leu) c.*1863A>T (n.*1863A>T) c.*1915A>T (n.*1915A>T) c.*2050A>T (n.*2050A>T) c.*1467A>T (n.*1467A>T) c.804-4077A>T (n.804-4077A>T) c.2414A>T (p.Gln805Leu) c.1211A>T (p.Gln404Leu) n.2496A>T c.2408A>T (p.Gln803Leu) c.1481A>T (p.Gln494Leu) c.2459A>T (p.Gln820Leu) c.2303A>T (p.Gln768Leu) c.2105A>T (p.Gln702Leu) n.2458A>T | |
7 | g.5977619T>C | CA153220111 | PMS2 | c.*1810A>G (n.*1810A>G) c.2411A>G (p.Gln804Arg) c.2306A>G (p.Gln769Arg) c.1774A>G (n.1774A>G) c.*2008A>G (n.*2008A>G) c.2258A>G (p.Gln753Arg) c.*1835A>G (n.*1835A>G) c.2216A>G (p.Gln739Arg) c.*1813A>G (n.*1813A>G) c.*2001A>G (n.*2001A>G) c.*1671A>G (n.*1671A>G) n.3268A>G c.2096A>G (p.Gln699Arg) c.2009A>G (p.Gln670Arg) c.1841A>G (p.Gln614Arg) c.*1504A>G (n.*1504A>G) c.*732A>G (n.*732A>G) c.*1409A>G (n.*1409A>G) c.2447A>G (p.Gln816Arg) c.*55A>G (n.*55A>G) c.2270A>G (p.Gln757Arg) n.2527A>G c.2037A>G c.*1945A>G (n.*1945A>G) c.*1304A>G (n.*1304A>G) c.*1571A>G (n.*1571A>G) c.*352A>G (n.*352A>G) c.2042A>G (p.Gln681Arg) c.*1866A>G (n.*1866A>G) c.*1917A>G (n.*1917A>G) c.1853A>G (p.Gln618Arg) c.2246A>G (p.Gln749Arg) n.4186A>G c.*2314A>G (n.*2314A>G) c.2600A>G (p.Gln867Arg) c.*1863A>G (n.*1863A>G) c.*1915A>G (n.*1915A>G) c.*2050A>G (n.*2050A>G) c.*1467A>G (n.*1467A>G) c.804-4077A>G (n.804-4077A>G) c.2414A>G (p.Gln805Arg) c.1211A>G (p.Gln404Arg) n.2496A>G c.2408A>G (p.Gln803Arg) c.1481A>G (p.Gln494Arg) c.2459A>G (p.Gln820Arg) c.2303A>G (p.Gln768Arg) c.2105A>G (p.Gln702Arg) n.2458A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.5977619T>G | CA366735638 | PMS2 | c.*1810A>C (n.*1810A>C) c.2411A>C (p.Gln804Pro) c.2306A>C (p.Gln769Pro) c.1774A>C (n.1774A>C) c.*2008A>C (n.*2008A>C) c.2258A>C (p.Gln753Pro) c.*1835A>C (n.*1835A>C) c.2216A>C (p.Gln739Pro) c.*1813A>C (n.*1813A>C) c.*2001A>C (n.*2001A>C) c.*1671A>C (n.*1671A>C) n.3268A>C c.2096A>C (p.Gln699Pro) c.2009A>C (p.Gln670Pro) c.1841A>C (p.Gln614Pro) c.*1504A>C (n.*1504A>C) c.*732A>C (n.*732A>C) c.*1409A>C (n.*1409A>C) c.2447A>C (p.Gln816Pro) c.*55A>C (n.*55A>C) c.2270A>C (p.Gln757Pro) n.2527A>C c.2037A>C c.*1945A>C (n.*1945A>C) c.*1304A>C (n.*1304A>C) c.*1571A>C (n.*1571A>C) c.*352A>C (n.*352A>C) c.2042A>C (p.Gln681Pro) c.*1866A>C (n.*1866A>C) c.*1917A>C (n.*1917A>C) c.1853A>C (p.Gln618Pro) c.2246A>C (p.Gln749Pro) n.4186A>C c.*2314A>C (n.*2314A>C) c.2600A>C (p.Gln867Pro) c.*1863A>C (n.*1863A>C) c.*1915A>C (n.*1915A>C) c.*2050A>C (n.*2050A>C) c.*1467A>C (n.*1467A>C) c.804-4077A>C (n.804-4077A>C) c.2414A>C (p.Gln805Pro) c.1211A>C (p.Gln404Pro) n.2496A>C c.2408A>C (p.Gln803Pro) c.1481A>C (p.Gln494Pro) c.2459A>C (p.Gln820Pro) c.2303A>C (p.Gln768Pro) c.2105A>C (p.Gln702Pro) n.2458A>C | gnomAD v4 |