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 | ClinVar |
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.5977586A>C | CA366735521 | PMS2 | c.*1841+2T>G (n.*1841+2T>G) c.2442+2T>G (n.2442+2T>G) c.2337+2T>G (n.2337+2T>G) c.1805+2T>G (n.1805+2T>G) c.*2039+2T>G (n.*2039+2T>G) c.2289+2T>G (n.2289+2T>G) c.*1866+2T>G (n.*1866+2T>G) c.2247+2T>G (n.2247+2T>G) c.*1844+2T>G (n.*1844+2T>G) c.*2032+2T>G (n.*2032+2T>G) c.*1702+2T>G (n.*1702+2T>G) n.3299+2T>G c.2127+2T>G (n.2127+2T>G) c.2040+2T>G (n.2040+2T>G) c.1872+2T>G (n.1872+2T>G) c.*1535+2T>G (n.*1535+2T>G) c.*763+2T>G (n.*763+2T>G) c.*1440+2T>G (n.*1440+2T>G) c.2478+2T>G (n.2478+2T>G) c.*86+2T>G (n.*86+2T>G) c.2301+2T>G (n.2301+2T>G) n.2558+2T>G c.2068+2T>G c.*1976+2T>G (n.*1976+2T>G) c.*1335+2T>G (n.*1335+2T>G) c.*1602+2T>G (n.*1602+2T>G) c.*383+2T>G (n.*383+2T>G) c.2073+2T>G (n.2073+2T>G) c.*1897+2T>G (n.*1897+2T>G) c.*1948+2T>G (n.*1948+2T>G) c.1884+2T>G (n.1884+2T>G) c.2277+2T>G (n.2277+2T>G) n.4217+2T>G c.*2345+2T>G (n.*2345+2T>G) c.2631+2T>G (n.2631+2T>G) c.*1894+2T>G (n.*1894+2T>G) c.*1946+2T>G (n.*1946+2T>G) c.*2081+2T>G (n.*2081+2T>G) c.*1498+2T>G (n.*1498+2T>G) c.804-4044T>G (n.804-4044T>G) c.2445+2T>G (n.2445+2T>G) c.1242+2T>G (n.1242+2T>G) n.2527+2T>G c.2439+2T>G (n.2439+2T>G) c.1512+2T>G (n.1512+2T>G) c.2490+2T>G (n.2490+2T>G) c.2334+2T>G (n.2334+2T>G) c.2136+2T>G (n.2136+2T>G) n.2489+2T>G | |
7 | g.5977586A>G | CA366735523 | PMS2 | c.*1841+2T>C (n.*1841+2T>C) c.2442+2T>C (n.2442+2T>C) c.2337+2T>C (n.2337+2T>C) c.1805+2T>C (n.1805+2T>C) c.*2039+2T>C (n.*2039+2T>C) c.2289+2T>C (n.2289+2T>C) c.*1866+2T>C (n.*1866+2T>C) c.2247+2T>C (n.2247+2T>C) c.*1844+2T>C (n.*1844+2T>C) c.*2032+2T>C (n.*2032+2T>C) c.*1702+2T>C (n.*1702+2T>C) n.3299+2T>C c.2127+2T>C (n.2127+2T>C) c.2040+2T>C (n.2040+2T>C) c.1872+2T>C (n.1872+2T>C) c.*1535+2T>C (n.*1535+2T>C) c.*763+2T>C (n.*763+2T>C) c.*1440+2T>C (n.*1440+2T>C) c.2478+2T>C (n.2478+2T>C) c.*86+2T>C (n.*86+2T>C) c.2301+2T>C (n.2301+2T>C) n.2558+2T>C c.2068+2T>C c.*1976+2T>C (n.*1976+2T>C) c.*1335+2T>C (n.*1335+2T>C) c.*1602+2T>C (n.*1602+2T>C) c.*383+2T>C (n.*383+2T>C) c.2073+2T>C (n.2073+2T>C) c.*1897+2T>C (n.*1897+2T>C) c.*1948+2T>C (n.*1948+2T>C) c.1884+2T>C (n.1884+2T>C) c.2277+2T>C (n.2277+2T>C) n.4217+2T>C c.*2345+2T>C (n.*2345+2T>C) c.2631+2T>C (n.2631+2T>C) c.*1894+2T>C (n.*1894+2T>C) c.*1946+2T>C (n.*1946+2T>C) c.*2081+2T>C (n.*2081+2T>C) c.*1498+2T>C (n.*1498+2T>C) c.804-4044T>C (n.804-4044T>C) c.2445+2T>C (n.2445+2T>C) c.1242+2T>C (n.1242+2T>C) n.2527+2T>C c.2439+2T>C (n.2439+2T>C) c.1512+2T>C (n.1512+2T>C) c.2490+2T>C (n.2490+2T>C) c.2334+2T>C (n.2334+2T>C) c.2136+2T>C (n.2136+2T>C) n.2489+2T>C | |
7 | g.5977586A>T | CA366735525 | PMS2 | c.*1841+2T>A (n.*1841+2T>A) c.2442+2T>A (n.2442+2T>A) c.2337+2T>A (n.2337+2T>A) c.1805+2T>A (n.1805+2T>A) c.*2039+2T>A (n.*2039+2T>A) c.2289+2T>A (n.2289+2T>A) c.*1866+2T>A (n.*1866+2T>A) c.2247+2T>A (n.2247+2T>A) c.*1844+2T>A (n.*1844+2T>A) c.*2032+2T>A (n.*2032+2T>A) c.*1702+2T>A (n.*1702+2T>A) n.3299+2T>A c.2127+2T>A (n.2127+2T>A) c.2040+2T>A (n.2040+2T>A) c.1872+2T>A (n.1872+2T>A) c.*1535+2T>A (n.*1535+2T>A) c.*763+2T>A (n.*763+2T>A) c.*1440+2T>A (n.*1440+2T>A) c.2478+2T>A (n.2478+2T>A) c.*86+2T>A (n.*86+2T>A) c.2301+2T>A (n.2301+2T>A) n.2558+2T>A c.2068+2T>A c.*1976+2T>A (n.*1976+2T>A) c.*1335+2T>A (n.*1335+2T>A) c.*1602+2T>A (n.*1602+2T>A) c.*383+2T>A (n.*383+2T>A) c.2073+2T>A (n.2073+2T>A) c.*1897+2T>A (n.*1897+2T>A) c.*1948+2T>A (n.*1948+2T>A) c.1884+2T>A (n.1884+2T>A) c.2277+2T>A (n.2277+2T>A) n.4217+2T>A c.*2345+2T>A (n.*2345+2T>A) c.2631+2T>A (n.2631+2T>A) c.*1894+2T>A (n.*1894+2T>A) c.*1946+2T>A (n.*1946+2T>A) c.*2081+2T>A (n.*2081+2T>A) c.*1498+2T>A (n.*1498+2T>A) c.804-4044T>A (n.804-4044T>A) c.2445+2T>A (n.2445+2T>A) c.1242+2T>A (n.1242+2T>A) n.2527+2T>A c.2439+2T>A (n.2439+2T>A) c.1512+2T>A (n.1512+2T>A) c.2490+2T>A (n.2490+2T>A) c.2334+2T>A (n.2334+2T>A) c.2136+2T>A (n.2136+2T>A) n.2489+2T>A | dbSNP |
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.5977587C>A | CA10577331 | PMS2 | c.*1841+1G>T (n.*1841+1G>T) c.2442+1G>T (n.2442+1G>T) c.2337+1G>T (n.2337+1G>T) c.1805+1G>T (n.1805+1G>T) c.*2039+1G>T (n.*2039+1G>T) c.2289+1G>T (n.2289+1G>T) c.*1866+1G>T (n.*1866+1G>T) c.2247+1G>T (n.2247+1G>T) c.*1844+1G>T (n.*1844+1G>T) c.*2032+1G>T (n.*2032+1G>T) c.*1702+1G>T (n.*1702+1G>T) n.3299+1G>T c.2127+1G>T (n.2127+1G>T) c.2040+1G>T (n.2040+1G>T) c.1872+1G>T (n.1872+1G>T) c.*1535+1G>T (n.*1535+1G>T) c.*763+1G>T (n.*763+1G>T) c.*1440+1G>T (n.*1440+1G>T) c.2478+1G>T (n.2478+1G>T) c.*86+1G>T (n.*86+1G>T) c.2301+1G>T (n.2301+1G>T) n.2558+1G>T c.2068+1G>T c.*1976+1G>T (n.*1976+1G>T) c.*1335+1G>T (n.*1335+1G>T) c.*1602+1G>T (n.*1602+1G>T) c.*383+1G>T (n.*383+1G>T) c.2073+1G>T (n.2073+1G>T) c.*1897+1G>T (n.*1897+1G>T) c.*1948+1G>T (n.*1948+1G>T) c.1884+1G>T (n.1884+1G>T) c.2277+1G>T (n.2277+1G>T) n.4217+1G>T c.*2345+1G>T (n.*2345+1G>T) c.2631+1G>T (n.2631+1G>T) c.*1894+1G>T (n.*1894+1G>T) c.*1946+1G>T (n.*1946+1G>T) c.*2081+1G>T (n.*2081+1G>T) c.*1498+1G>T (n.*1498+1G>T) c.804-4045G>T (n.804-4045G>T) c.2445+1G>T (n.2445+1G>T) c.1242+1G>T (n.1242+1G>T) n.2527+1G>T c.2439+1G>T (n.2439+1G>T) c.1512+1G>T (n.1512+1G>T) c.2490+1G>T (n.2490+1G>T) c.2334+1G>T (n.2334+1G>T) c.2136+1G>T (n.2136+1G>T) n.2489+1G>T | ClinVar dbSNP gnomAD v4 |
7 | g.5977587C= | CA1685249991 | PMS2 | c.*1841+1G= (n.*1841+1G=) c.2442+1G= (n.2442+1G=) c.2337+1G= (n.2337+1G=) c.1805+1G= (n.1805+1G=) c.*2039+1G= (n.*2039+1G=) c.2289+1G= (n.2289+1G=) c.*1866+1G= (n.*1866+1G=) c.2247+1G= (n.2247+1G=) c.*1844+1G= (n.*1844+1G=) c.*2032+1G= (n.*2032+1G=) c.*1702+1G= (n.*1702+1G=) n.3299+1G= c.2127+1G= (n.2127+1G=) c.2040+1G= (n.2040+1G=) c.1872+1G= (n.1872+1G=) c.*1535+1G= (n.*1535+1G=) c.*763+1G= (n.*763+1G=) c.*1440+1G= (n.*1440+1G=) c.2478+1G= (n.2478+1G=) c.*86+1G= (n.*86+1G=) c.2301+1G= (n.2301+1G=) n.2558+1G= c.2068+1G= c.*1976+1G= (n.*1976+1G=) c.*1335+1G= (n.*1335+1G=) c.*1602+1G= (n.*1602+1G=) c.*383+1G= (n.*383+1G=) c.2073+1G= (n.2073+1G=) c.*1897+1G= (n.*1897+1G=) c.*1948+1G= (n.*1948+1G=) c.1884+1G= (n.1884+1G=) c.2277+1G= (n.2277+1G=) n.4217+1G= c.*2345+1G= (n.*2345+1G=) c.2631+1G= (n.2631+1G=) c.*1894+1G= (n.*1894+1G=) c.*1946+1G= (n.*1946+1G=) c.*2081+1G= (n.*2081+1G=) c.*1498+1G= (n.*1498+1G=) c.804-4045G= (n.804-4045G=) c.2445+1G= (n.2445+1G=) c.1242+1G= (n.1242+1G=) n.2527+1G= c.2439+1G= (n.2439+1G=) c.1512+1G= (n.1512+1G=) c.2490+1G= (n.2490+1G=) c.2334+1G= (n.2334+1G=) c.2136+1G= (n.2136+1G=) n.2489+1G= | |
7 | g.5977587C>G | CA10582495 | PMS2 | c.*1841+1G>C (n.*1841+1G>C) c.2442+1G>C (n.2442+1G>C) c.2337+1G>C (n.2337+1G>C) c.1805+1G>C (n.1805+1G>C) c.*2039+1G>C (n.*2039+1G>C) c.2289+1G>C (n.2289+1G>C) c.*1866+1G>C (n.*1866+1G>C) c.2247+1G>C (n.2247+1G>C) c.*1844+1G>C (n.*1844+1G>C) c.*2032+1G>C (n.*2032+1G>C) c.*1702+1G>C (n.*1702+1G>C) n.3299+1G>C c.2127+1G>C (n.2127+1G>C) c.2040+1G>C (n.2040+1G>C) c.1872+1G>C (n.1872+1G>C) c.*1535+1G>C (n.*1535+1G>C) c.*763+1G>C (n.*763+1G>C) c.*1440+1G>C (n.*1440+1G>C) c.2478+1G>C (n.2478+1G>C) c.*86+1G>C (n.*86+1G>C) c.2301+1G>C (n.2301+1G>C) n.2558+1G>C c.2068+1G>C c.*1976+1G>C (n.*1976+1G>C) c.*1335+1G>C (n.*1335+1G>C) c.*1602+1G>C (n.*1602+1G>C) c.*383+1G>C (n.*383+1G>C) c.2073+1G>C (n.2073+1G>C) c.*1897+1G>C (n.*1897+1G>C) c.*1948+1G>C (n.*1948+1G>C) c.1884+1G>C (n.1884+1G>C) c.2277+1G>C (n.2277+1G>C) n.4217+1G>C c.*2345+1G>C (n.*2345+1G>C) c.2631+1G>C (n.2631+1G>C) c.*1894+1G>C (n.*1894+1G>C) c.*1946+1G>C (n.*1946+1G>C) c.*2081+1G>C (n.*2081+1G>C) c.*1498+1G>C (n.*1498+1G>C) c.804-4045G>C (n.804-4045G>C) c.2445+1G>C (n.2445+1G>C) c.1242+1G>C (n.1242+1G>C) n.2527+1G>C c.2439+1G>C (n.2439+1G>C) c.1512+1G>C (n.1512+1G>C) c.2490+1G>C (n.2490+1G>C) c.2334+1G>C (n.2334+1G>C) c.2136+1G>C (n.2136+1G>C) n.2489+1G>C | ClinVar dbSNP |
7 | g.5977587C>T | CA366735529 | PMS2 | c.*1841+1G>A (n.*1841+1G>A) c.2442+1G>A (n.2442+1G>A) c.2337+1G>A (n.2337+1G>A) c.1805+1G>A (n.1805+1G>A) c.*2039+1G>A (n.*2039+1G>A) c.2289+1G>A (n.2289+1G>A) c.*1866+1G>A (n.*1866+1G>A) c.2247+1G>A (n.2247+1G>A) c.*1844+1G>A (n.*1844+1G>A) c.*2032+1G>A (n.*2032+1G>A) c.*1702+1G>A (n.*1702+1G>A) n.3299+1G>A c.2127+1G>A (n.2127+1G>A) c.2040+1G>A (n.2040+1G>A) c.1872+1G>A (n.1872+1G>A) c.*1535+1G>A (n.*1535+1G>A) c.*763+1G>A (n.*763+1G>A) c.*1440+1G>A (n.*1440+1G>A) c.2478+1G>A (n.2478+1G>A) c.*86+1G>A (n.*86+1G>A) c.2301+1G>A (n.2301+1G>A) n.2558+1G>A c.2068+1G>A c.*1976+1G>A (n.*1976+1G>A) c.*1335+1G>A (n.*1335+1G>A) c.*1602+1G>A (n.*1602+1G>A) c.*383+1G>A (n.*383+1G>A) c.2073+1G>A (n.2073+1G>A) c.*1897+1G>A (n.*1897+1G>A) c.*1948+1G>A (n.*1948+1G>A) c.1884+1G>A (n.1884+1G>A) c.2277+1G>A (n.2277+1G>A) n.4217+1G>A c.*2345+1G>A (n.*2345+1G>A) c.2631+1G>A (n.2631+1G>A) c.*1894+1G>A (n.*1894+1G>A) c.*1946+1G>A (n.*1946+1G>A) c.*2081+1G>A (n.*2081+1G>A) c.*1498+1G>A (n.*1498+1G>A) c.804-4045G>A (n.804-4045G>A) c.2445+1G>A (n.2445+1G>A) c.1242+1G>A (n.1242+1G>A) n.2527+1G>A c.2439+1G>A (n.2439+1G>A) c.1512+1G>A (n.1512+1G>A) c.2490+1G>A (n.2490+1G>A) c.2334+1G>A (n.2334+1G>A) c.2136+1G>A (n.2136+1G>A) n.2489+1G>A | ClinVar dbSNP |
7 | g.5977587_5977588delinsTG | CA645563162 | PMS2 | c.*1841_*1841+1delinsCA c.2442_2442+1delinsCA c.2337_2337+1delinsCA c.1805_1805+1delinsCA c.*2039_*2039+1delinsCA c.2289_2289+1delinsCA c.*1866_*1866+1delinsCA c.2247_2247+1delinsCA c.*1844_*1844+1delinsCA c.*2032_*2032+1delinsCA c.*1702_*1702+1delinsCA n.3299_3299+1delinsCA c.2127_2127+1delinsCA c.2040_2040+1delinsCA c.1872_1872+1delinsCA c.*1535_*1535+1delinsCA c.*763_*763+1delinsCA c.*1440_*1440+1delinsCA c.2478_2478+1delinsCA c.*86_*86+1delinsCA c.2301_2301+1delinsCA n.2558_2558+1delinsCA c.2068_2068+1delinsCA c.*1976_*1976+1delinsCA c.*1335_*1335+1delinsCA c.*1602_*1602+1delinsCA c.*383_*383+1delinsCA c.2073_2073+1delinsCA c.*1897_*1897+1delinsCA c.*1948_*1948+1delinsCA c.1884_1884+1delinsCA c.2277_2277+1delinsCA n.4217_4217+1delinsCA c.*2345_*2345+1delinsCA c.2631_2631+1delinsCA c.*1894_*1894+1delinsCA c.*1946_*1946+1delinsCA c.*2081_*2081+1delinsCA c.*1498_*1498+1delinsCA c.804-4046_804-4045delinsCA (n.804-4046_804-4045delinsCA) c.2445_2445+1delinsCA c.1242_1242+1delinsCA n.2527_2527+1delinsCA c.2439_2439+1delinsCA c.1512_1512+1delinsCA c.2490_2490+1delinsCA c.2334_2334+1delinsCA c.2136_2136+1delinsCA n.2489_2489+1delinsCA | COSMIC |
7 | g.5977588C>A | CA453642287 | PMS2 | c.*1841G>T (n.*1841G>T) c.2442G>T (p.Ser814=) c.2337G>T (p.Ser779=) c.1805G>T (n.1805G>T) c.*2039G>T (n.*2039G>T) c.2289G>T (p.Ser763=) c.*1866G>T (n.*1866G>T) c.2247G>T (p.Ser749=) c.*1844G>T (n.*1844G>T) c.*2032G>T (n.*2032G>T) c.*1702G>T (n.*1702G>T) n.3299G>T c.2127G>T (p.Ser709=) c.2040G>T (p.Ser680=) c.1872G>T (p.Ser624=) c.*1535G>T (n.*1535G>T) c.*763G>T (n.*763G>T) c.*1440G>T (n.*1440G>T) c.2478G>T (p.Ser826=) c.*86G>T (n.*86G>T) c.2301G>T (p.Ser767=) n.2558G>T c.2068G>T c.*1976G>T (n.*1976G>T) c.*1335G>T (n.*1335G>T) c.*1602G>T (n.*1602G>T) c.*383G>T (n.*383G>T) c.2073G>T (p.Ser691=) c.*1897G>T (n.*1897G>T) c.*1948G>T (n.*1948G>T) c.1884G>T (p.Ser628=) c.2277G>T (p.Ser759=) n.4217G>T c.*2345G>T (n.*2345G>T) c.2631G>T (p.Ser877=) c.*1894G>T (n.*1894G>T) c.*1946G>T (n.*1946G>T) c.*2081G>T (n.*2081G>T) c.*1498G>T (n.*1498G>T) c.804-4046G>T (n.804-4046G>T) c.2445G>T (p.Ser815=) c.1242G>T (p.Ser414=) n.2527G>T c.2439G>T (p.Ser813=) c.1512G>T (p.Ser504=) c.2490G>T (p.Ser830=) c.2334G>T (p.Ser778=) c.2136G>T (p.Ser712=) n.2489G>T | gnomAD v4 |
7 | g.5977588C= | CA1685249995 | PMS2 | c.*1841G= (n.*1841G=) c.2442G= (p.Ser814=) c.2337G= (p.Ser779=) c.1805G= (n.1805G=) c.*2039G= (n.*2039G=) c.2289G= (p.Ser763=) c.*1866G= (n.*1866G=) c.2247G= (p.Ser749=) c.*1844G= (n.*1844G=) c.*2032G= (n.*2032G=) c.*1702G= (n.*1702G=) n.3299G= c.2127G= (p.Ser709=) c.2040G= (p.Ser680=) c.1872G= (p.Ser624=) c.*1535G= (n.*1535G=) c.*763G= (n.*763G=) c.*1440G= (n.*1440G=) c.2478G= (p.Ser826=) c.*86G= (n.*86G=) c.2301G= (p.Ser767=) n.2558G= c.2068G= c.*1976G= (n.*1976G=) c.*1335G= (n.*1335G=) c.*1602G= (n.*1602G=) c.*383G= (n.*383G=) c.2073G= (p.Ser691=) c.*1897G= (n.*1897G=) c.*1948G= (n.*1948G=) c.1884G= (p.Ser628=) c.2277G= (p.Ser759=) n.4217G= c.*2345G= (n.*2345G=) c.2631G= (p.Ser877=) c.*1894G= (n.*1894G=) c.*1946G= (n.*1946G=) c.*2081G= (n.*2081G=) c.*1498G= (n.*1498G=) c.804-4046G= (n.804-4046G=) c.2445G= (p.Ser815=) c.1242G= (p.Ser414=) n.2527G= c.2439G= (p.Ser813=) c.1512G= (p.Ser504=) c.2490G= (p.Ser830=) c.2334G= (p.Ser778=) c.2136G= (p.Ser712=) n.2489G= | |
7 | g.5977588C>G | CA453642289 | PMS2 | c.*1841G>C (n.*1841G>C) c.2442G>C (p.Ser814=) c.2337G>C (p.Ser779=) c.1805G>C (n.1805G>C) c.*2039G>C (n.*2039G>C) c.2289G>C (p.Ser763=) c.*1866G>C (n.*1866G>C) c.2247G>C (p.Ser749=) c.*1844G>C (n.*1844G>C) c.*2032G>C (n.*2032G>C) c.*1702G>C (n.*1702G>C) n.3299G>C c.2127G>C (p.Ser709=) c.2040G>C (p.Ser680=) c.1872G>C (p.Ser624=) c.*1535G>C (n.*1535G>C) c.*763G>C (n.*763G>C) c.*1440G>C (n.*1440G>C) c.2478G>C (p.Ser826=) c.*86G>C (n.*86G>C) c.2301G>C (p.Ser767=) n.2558G>C c.2068G>C c.*1976G>C (n.*1976G>C) c.*1335G>C (n.*1335G>C) c.*1602G>C (n.*1602G>C) c.*383G>C (n.*383G>C) c.2073G>C (p.Ser691=) c.*1897G>C (n.*1897G>C) c.*1948G>C (n.*1948G>C) c.1884G>C (p.Ser628=) c.2277G>C (p.Ser759=) n.4217G>C c.*2345G>C (n.*2345G>C) c.2631G>C (p.Ser877=) c.*1894G>C (n.*1894G>C) c.*1946G>C (n.*1946G>C) c.*2081G>C (n.*2081G>C) c.*1498G>C (n.*1498G>C) c.804-4046G>C (n.804-4046G>C) c.2445G>C (p.Ser815=) c.1242G>C (p.Ser414=) n.2527G>C c.2439G>C (p.Ser813=) c.1512G>C (p.Ser504=) c.2490G>C (p.Ser830=) c.2334G>C (p.Ser778=) c.2136G>C (p.Ser712=) n.2489G>C | ClinVar |
7 | g.5977588C>T | CA011510 | PMS2 | c.*1841G>A (n.*1841G>A) c.2442G>A (p.Ser814=) c.2337G>A (p.Ser779=) c.1805G>A (n.1805G>A) c.*2039G>A (n.*2039G>A) c.2289G>A (p.Ser763=) c.*1866G>A (n.*1866G>A) c.2247G>A (p.Ser749=) c.*1844G>A (n.*1844G>A) c.*2032G>A (n.*2032G>A) c.*1702G>A (n.*1702G>A) n.3299G>A c.2127G>A (p.Ser709=) c.2040G>A (p.Ser680=) c.1872G>A (p.Ser624=) c.*1535G>A (n.*1535G>A) c.*763G>A (n.*763G>A) c.*1440G>A (n.*1440G>A) c.2478G>A (p.Ser826=) c.*86G>A (n.*86G>A) c.2301G>A (p.Ser767=) n.2558G>A c.2068G>A c.*1976G>A (n.*1976G>A) c.*1335G>A (n.*1335G>A) c.*1602G>A (n.*1602G>A) c.*383G>A (n.*383G>A) c.2073G>A (p.Ser691=) c.*1897G>A (n.*1897G>A) c.*1948G>A (n.*1948G>A) c.1884G>A (p.Ser628=) c.2277G>A (p.Ser759=) n.4217G>A c.*2345G>A (n.*2345G>A) c.2631G>A (p.Ser877=) c.*1894G>A (n.*1894G>A) c.*1946G>A (n.*1946G>A) c.*2081G>A (n.*2081G>A) c.*1498G>A (n.*1498G>A) c.804-4046G>A (n.804-4046G>A) c.2445G>A (p.Ser815=) c.1242G>A (p.Ser414=) n.2527G>A c.2439G>A (p.Ser813=) c.1512G>A (p.Ser504=) c.2490G>A (p.Ser830=) c.2334G>A (p.Ser778=) c.2136G>A (p.Ser712=) n.2489G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5977588_5977589insAA | CA913188206 | PMS2 | c.*1840_*1841insTT (n.*1840_*1841insTT) c.2441_2442insTT (p.Val815TrpfsTer2) c.2336_2337insTT (p.Val780TrpfsTer2) c.1804_1805insTT (n.1804_1805insTT) c.*2038_*2039insTT (n.*2038_*2039insTT) c.2288_2289insTT (p.Val764TrpfsTer2) c.*1865_*1866insTT (n.*1865_*1866insTT) c.2246_2247insTT (p.Val750TrpfsTer2) c.*1843_*1844insTT (n.*1843_*1844insTT) c.*2031_*2032insTT (n.*2031_*2032insTT) c.*1701_*1702insTT (n.*1701_*1702insTT) n.3298_3299insTT c.2126_2127insTT (p.Val710TrpfsTer2) c.2039_2040insTT (p.Val681TrpfsTer2) c.1871_1872insTT (p.Val625TrpfsTer2) c.*1534_*1535insTT (n.*1534_*1535insTT) c.*762_*763insTT (n.*762_*763insTT) c.*1439_*1440insTT (n.*1439_*1440insTT) c.2477_2478insTT (p.Val827TrpfsTer2) c.*85_*86insTT (n.*85_*86insTT) c.2300_2301insTT (p.Val768TrpfsTer2) n.2557_2558insTT c.2067_2068insTT c.*1975_*1976insTT (n.*1975_*1976insTT) c.*1334_*1335insTT (n.*1334_*1335insTT) c.*1601_*1602insTT (n.*1601_*1602insTT) c.*382_*383insTT (n.*382_*383insTT) c.2072_2073insTT (p.Val692TrpfsTer2) c.*1896_*1897insTT (n.*1896_*1897insTT) c.*1947_*1948insTT (n.*1947_*1948insTT) c.1883_1884insTT (p.Val629TrpfsTer2) c.2276_2277insTT (p.Val760TrpfsTer2) n.4216_4217insTT c.*2344_*2345insTT (n.*2344_*2345insTT) c.2630_2631insTT (p.Val878TrpfsTer2) c.*1893_*1894insTT (n.*1893_*1894insTT) c.*1945_*1946insTT (n.*1945_*1946insTT) c.*2080_*2081insTT (n.*2080_*2081insTT) c.*1497_*1498insTT (n.*1497_*1498insTT) c.804-4047_804-4046insTT (n.804-4047_804-4046insTT) c.2444_2445insTT (p.Val816TrpfsTer2) c.1241_1242insTT (p.Val415TrpfsTer2) n.2526_2527insTT c.2438_2439insTT (p.Val814TrpfsTer2) c.1511_1512insTT (p.Val505TrpfsTer2) c.2489_2490insTT (p.Val831TrpfsTer2) c.2333_2334insTT (p.Val779TrpfsTer2) c.2135_2136insTT (p.Val713TrpfsTer2) n.2488_2489insTT | ClinVar dbSNP |
7 | g.5977589G>A | CA011500 | PMS2 | c.*1840C>T (n.*1840C>T) c.2441C>T (p.Ser814Leu) c.2336C>T (p.Ser779Leu) c.1804C>T (n.1804C>T) c.*2038C>T (n.*2038C>T) c.2288C>T (p.Ser763Leu) c.*1865C>T (n.*1865C>T) c.2246C>T (p.Ser749Leu) c.*1843C>T (n.*1843C>T) c.*2031C>T (n.*2031C>T) c.*1701C>T (n.*1701C>T) n.3298C>T c.2126C>T (p.Ser709Leu) c.2039C>T (p.Ser680Leu) c.1871C>T (p.Ser624Leu) c.*1534C>T (n.*1534C>T) c.*762C>T (n.*762C>T) c.*1439C>T (n.*1439C>T) c.2477C>T (p.Ser826Leu) c.*85C>T (n.*85C>T) c.2300C>T (p.Ser767Leu) n.2557C>T c.2067C>T c.*1975C>T (n.*1975C>T) c.*1334C>T (n.*1334C>T) c.*1601C>T (n.*1601C>T) c.*382C>T (n.*382C>T) c.2072C>T (p.Ser691Leu) c.*1896C>T (n.*1896C>T) c.*1947C>T (n.*1947C>T) c.1883C>T (p.Ser628Leu) c.2276C>T (p.Ser759Leu) n.4216C>T c.*2344C>T (n.*2344C>T) c.2630C>T (p.Ser877Leu) c.*1893C>T (n.*1893C>T) c.*1945C>T (n.*1945C>T) c.*2080C>T (n.*2080C>T) c.*1497C>T (n.*1497C>T) c.804-4047C>T (n.804-4047C>T) c.2444C>T (p.Ser815Leu) c.1241C>T (p.Ser414Leu) n.2526C>T c.2438C>T (p.Ser813Leu) c.1511C>T (p.Ser504Leu) c.2489C>T (p.Ser830Leu) c.2333C>T (p.Ser778Leu) c.2135C>T (p.Ser712Leu) n.2488C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.5977589G>C | CA366735531 | PMS2 | c.*1840C>G (n.*1840C>G) c.2441C>G (p.Ser814Trp) c.2336C>G (p.Ser779Trp) c.1804C>G (n.1804C>G) c.*2038C>G (n.*2038C>G) c.2288C>G (p.Ser763Trp) c.*1865C>G (n.*1865C>G) c.2246C>G (p.Ser749Trp) c.*1843C>G (n.*1843C>G) c.*2031C>G (n.*2031C>G) c.*1701C>G (n.*1701C>G) n.3298C>G c.2126C>G (p.Ser709Trp) c.2039C>G (p.Ser680Trp) c.1871C>G (p.Ser624Trp) c.*1534C>G (n.*1534C>G) c.*762C>G (n.*762C>G) c.*1439C>G (n.*1439C>G) c.2477C>G (p.Ser826Trp) c.*85C>G (n.*85C>G) c.2300C>G (p.Ser767Trp) n.2557C>G c.2067C>G c.*1975C>G (n.*1975C>G) c.*1334C>G (n.*1334C>G) c.*1601C>G (n.*1601C>G) c.*382C>G (n.*382C>G) c.2072C>G (p.Ser691Trp) c.*1896C>G (n.*1896C>G) c.*1947C>G (n.*1947C>G) c.1883C>G (p.Ser628Trp) c.2276C>G (p.Ser759Trp) n.4216C>G c.*2344C>G (n.*2344C>G) c.2630C>G (p.Ser877Trp) c.*1893C>G (n.*1893C>G) c.*1945C>G (n.*1945C>G) c.*2080C>G (n.*2080C>G) c.*1497C>G (n.*1497C>G) c.804-4047C>G (n.804-4047C>G) c.2444C>G (p.Ser815Trp) c.1241C>G (p.Ser414Trp) n.2526C>G c.2438C>G (p.Ser813Trp) c.1511C>G (p.Ser504Trp) c.2489C>G (p.Ser830Trp) c.2333C>G (p.Ser778Trp) c.2135C>G (p.Ser712Trp) n.2488C>G | dbSNP |
7 | g.5977589G= | CA1685249998 | PMS2 | c.*1840C= (n.*1840C=) c.2441C= (p.Ser814=) c.2336C= (p.Ser779=) c.1804C= (n.1804C=) c.*2038C= (n.*2038C=) c.2288C= (p.Ser763=) c.*1865C= (n.*1865C=) c.2246C= (p.Ser749=) c.*1843C= (n.*1843C=) c.*2031C= (n.*2031C=) c.*1701C= (n.*1701C=) n.3298C= c.2126C= (p.Ser709=) c.2039C= (p.Ser680=) c.1871C= (p.Ser624=) c.*1534C= (n.*1534C=) c.*762C= (n.*762C=) c.*1439C= (n.*1439C=) c.2477C= (p.Ser826=) c.*85C= (n.*85C=) c.2300C= (p.Ser767=) n.2557C= c.2067C= c.*1975C= (n.*1975C=) c.*1334C= (n.*1334C=) c.*1601C= (n.*1601C=) c.*382C= (n.*382C=) c.2072C= (p.Ser691=) c.*1896C= (n.*1896C=) c.*1947C= (n.*1947C=) c.1883C= (p.Ser628=) c.2276C= (p.Ser759=) n.4216C= c.*2344C= (n.*2344C=) c.2630C= (p.Ser877=) c.*1893C= (n.*1893C=) c.*1945C= (n.*1945C=) c.*2080C= (n.*2080C=) c.*1497C= (n.*1497C=) c.804-4047C= (n.804-4047C=) c.2444C= (p.Ser815=) c.1241C= (p.Ser414=) n.2526C= c.2438C= (p.Ser813=) c.1511C= (p.Ser504=) c.2489C= (p.Ser830=) c.2333C= (p.Ser778=) c.2135C= (p.Ser712=) n.2488C= | |
7 | g.5977589G>T | CA366735532 | PMS2 | c.*1840C>A (n.*1840C>A) c.2441C>A (p.Ser814Ter) c.2336C>A (p.Ser779Ter) c.1804C>A (n.1804C>A) c.*2038C>A (n.*2038C>A) c.2288C>A (p.Ser763Ter) c.*1865C>A (n.*1865C>A) c.2246C>A (p.Ser749Ter) c.*1843C>A (n.*1843C>A) c.*2031C>A (n.*2031C>A) c.*1701C>A (n.*1701C>A) n.3298C>A c.2126C>A (p.Ser709Ter) c.2039C>A (p.Ser680Ter) c.1871C>A (p.Ser624Ter) c.*1534C>A (n.*1534C>A) c.*762C>A (n.*762C>A) c.*1439C>A (n.*1439C>A) c.2477C>A (p.Ser826Ter) c.*85C>A (n.*85C>A) c.2300C>A (p.Ser767Ter) n.2557C>A c.2067C>A c.*1975C>A (n.*1975C>A) c.*1334C>A (n.*1334C>A) c.*1601C>A (n.*1601C>A) c.*382C>A (n.*382C>A) c.2072C>A (p.Ser691Ter) c.*1896C>A (n.*1896C>A) c.*1947C>A (n.*1947C>A) c.1883C>A (p.Ser628Ter) c.2276C>A (p.Ser759Ter) n.4216C>A c.*2344C>A (n.*2344C>A) c.2630C>A (p.Ser877Ter) c.*1893C>A (n.*1893C>A) c.*1945C>A (n.*1945C>A) c.*2080C>A (n.*2080C>A) c.*1497C>A (n.*1497C>A) c.804-4047C>A (n.804-4047C>A) c.2444C>A (p.Ser815Ter) c.1241C>A (p.Ser414Ter) n.2526C>A c.2438C>A (p.Ser813Ter) c.1511C>A (p.Ser504Ter) c.2489C>A (p.Ser830Ter) c.2333C>A (p.Ser778Ter) c.2135C>A (p.Ser712Ter) n.2488C>A | ClinVar dbSNP |
7 | g.5977590A>C | CA366735535 | PMS2 | c.*1839T>G (n.*1839T>G) c.2440T>G (p.Ser814Ala) c.2335T>G (p.Ser779Ala) c.1803T>G (n.1803T>G) c.*2037T>G (n.*2037T>G) c.2287T>G (p.Ser763Ala) c.*1864T>G (n.*1864T>G) c.2245T>G (p.Ser749Ala) c.*1842T>G (n.*1842T>G) c.*2030T>G (n.*2030T>G) c.*1700T>G (n.*1700T>G) n.3297T>G c.2125T>G (p.Ser709Ala) c.2038T>G (p.Ser680Ala) c.1870T>G (p.Ser624Ala) c.*1533T>G (n.*1533T>G) c.*761T>G (n.*761T>G) c.*1438T>G (n.*1438T>G) c.2476T>G (p.Ser826Ala) c.*84T>G (n.*84T>G) c.2299T>G (p.Ser767Ala) n.2556T>G c.2066T>G c.*1974T>G (n.*1974T>G) c.*1333T>G (n.*1333T>G) c.*1600T>G (n.*1600T>G) c.*381T>G (n.*381T>G) c.2071T>G (p.Ser691Ala) c.*1895T>G (n.*1895T>G) c.*1946T>G (n.*1946T>G) c.1882T>G (p.Ser628Ala) c.2275T>G (p.Ser759Ala) n.4215T>G c.*2343T>G (n.*2343T>G) c.2629T>G (p.Ser877Ala) c.*1892T>G (n.*1892T>G) c.*1944T>G (n.*1944T>G) c.*2079T>G (n.*2079T>G) c.*1496T>G (n.*1496T>G) c.804-4048T>G (n.804-4048T>G) c.2443T>G (p.Ser815Ala) c.1240T>G (p.Ser414Ala) n.2525T>G c.2437T>G (p.Ser813Ala) c.1510T>G (p.Ser504Ala) c.2488T>G (p.Ser830Ala) c.2332T>G (p.Ser778Ala) c.2134T>G (p.Ser712Ala) n.2487T>G | |
7 | g.5977590A>G | CA366735536 | PMS2 | c.*1839T>C (n.*1839T>C) c.2440T>C (p.Ser814Pro) c.2335T>C (p.Ser779Pro) c.1803T>C (n.1803T>C) c.*2037T>C (n.*2037T>C) c.2287T>C (p.Ser763Pro) c.*1864T>C (n.*1864T>C) c.2245T>C (p.Ser749Pro) c.*1842T>C (n.*1842T>C) c.*2030T>C (n.*2030T>C) c.*1700T>C (n.*1700T>C) n.3297T>C c.2125T>C (p.Ser709Pro) c.2038T>C (p.Ser680Pro) c.1870T>C (p.Ser624Pro) c.*1533T>C (n.*1533T>C) c.*761T>C (n.*761T>C) c.*1438T>C (n.*1438T>C) c.2476T>C (p.Ser826Pro) c.*84T>C (n.*84T>C) c.2299T>C (p.Ser767Pro) n.2556T>C c.2066T>C c.*1974T>C (n.*1974T>C) c.*1333T>C (n.*1333T>C) c.*1600T>C (n.*1600T>C) c.*381T>C (n.*381T>C) c.2071T>C (p.Ser691Pro) c.*1895T>C (n.*1895T>C) c.*1946T>C (n.*1946T>C) c.1882T>C (p.Ser628Pro) c.2275T>C (p.Ser759Pro) n.4215T>C c.*2343T>C (n.*2343T>C) c.2629T>C (p.Ser877Pro) c.*1892T>C (n.*1892T>C) c.*1944T>C (n.*1944T>C) c.*2079T>C (n.*2079T>C) c.*1496T>C (n.*1496T>C) c.804-4048T>C (n.804-4048T>C) c.2443T>C (p.Ser815Pro) c.1240T>C (p.Ser414Pro) n.2525T>C c.2437T>C (p.Ser813Pro) c.1510T>C (p.Ser504Pro) c.2488T>C (p.Ser830Pro) c.2332T>C (p.Ser778Pro) c.2134T>C (p.Ser712Pro) n.2487T>C | dbSNP |
7 | g.5977590A>T | CA366735538 | PMS2 | c.*1839T>A (n.*1839T>A) c.2440T>A (p.Ser814Thr) c.2335T>A (p.Ser779Thr) c.1803T>A (n.1803T>A) c.*2037T>A (n.*2037T>A) c.2287T>A (p.Ser763Thr) c.*1864T>A (n.*1864T>A) c.2245T>A (p.Ser749Thr) c.*1842T>A (n.*1842T>A) c.*2030T>A (n.*2030T>A) c.*1700T>A (n.*1700T>A) n.3297T>A c.2125T>A (p.Ser709Thr) c.2038T>A (p.Ser680Thr) c.1870T>A (p.Ser624Thr) c.*1533T>A (n.*1533T>A) c.*761T>A (n.*761T>A) c.*1438T>A (n.*1438T>A) c.2476T>A (p.Ser826Thr) c.*84T>A (n.*84T>A) c.2299T>A (p.Ser767Thr) n.2556T>A c.2066T>A c.*1974T>A (n.*1974T>A) c.*1333T>A (n.*1333T>A) c.*1600T>A (n.*1600T>A) c.*381T>A (n.*381T>A) c.2071T>A (p.Ser691Thr) c.*1895T>A (n.*1895T>A) c.*1946T>A (n.*1946T>A) c.1882T>A (p.Ser628Thr) c.2275T>A (p.Ser759Thr) n.4215T>A c.*2343T>A (n.*2343T>A) c.2629T>A (p.Ser877Thr) c.*1892T>A (n.*1892T>A) c.*1944T>A (n.*1944T>A) c.*2079T>A (n.*2079T>A) c.*1496T>A (n.*1496T>A) c.804-4048T>A (n.804-4048T>A) c.2443T>A (p.Ser815Thr) c.1240T>A (p.Ser414Thr) n.2525T>A c.2437T>A (p.Ser813Thr) c.1510T>A (p.Ser504Thr) c.2488T>A (p.Ser830Thr) c.2332T>A (p.Ser778Thr) c.2134T>A (p.Ser712Thr) n.2487T>A | dbSNP |
7 | g.5977591C>A | CA366735540 | PMS2 | c.*1838G>T (n.*1838G>T) c.2439G>T (p.Lys813Asn) c.2334G>T (p.Lys778Asn) c.1802G>T (n.1802G>T) c.*2036G>T (n.*2036G>T) c.2286G>T (p.Lys762Asn) c.*1863G>T (n.*1863G>T) c.2244G>T (p.Lys748Asn) c.*1841G>T (n.*1841G>T) c.*2029G>T (n.*2029G>T) c.*1699G>T (n.*1699G>T) n.3296G>T c.2124G>T (p.Lys708Asn) c.2037G>T (p.Lys679Asn) c.1869G>T (p.Lys623Asn) c.*1532G>T (n.*1532G>T) c.*760G>T (n.*760G>T) c.*1437G>T (n.*1437G>T) c.2475G>T (p.Lys825Asn) c.*83G>T (n.*83G>T) c.2298G>T (p.Lys766Asn) n.2555G>T c.2065G>T c.*1973G>T (n.*1973G>T) c.*1332G>T (n.*1332G>T) c.*1599G>T (n.*1599G>T) c.*380G>T (n.*380G>T) c.2070G>T (p.Lys690Asn) c.*1894G>T (n.*1894G>T) c.*1945G>T (n.*1945G>T) c.1881G>T (p.Lys627Asn) c.2274G>T (p.Lys758Asn) n.4214G>T c.*2342G>T (n.*2342G>T) c.2628G>T (p.Lys876Asn) c.*1891G>T (n.*1891G>T) c.*1943G>T (n.*1943G>T) c.*2078G>T (n.*2078G>T) c.*1495G>T (n.*1495G>T) c.804-4049G>T (n.804-4049G>T) c.2442G>T (p.Lys814Asn) c.1239G>T (p.Lys413Asn) n.2524G>T c.2436G>T (p.Lys812Asn) c.1509G>T (p.Lys503Asn) c.2487G>T (p.Lys829Asn) c.2331G>T (p.Lys777Asn) c.2133G>T (p.Lys711Asn) n.2486G>T | |
7 | g.5977591C= | CA1685250001 | PMS2 | c.*1838G= (n.*1838G=) c.2439G= (p.Lys813=) c.2334G= (p.Lys778=) c.1802G= (n.1802G=) c.*2036G= (n.*2036G=) c.2286G= (p.Lys762=) c.*1863G= (n.*1863G=) c.2244G= (p.Lys748=) c.*1841G= (n.*1841G=) c.*2029G= (n.*2029G=) c.*1699G= (n.*1699G=) n.3296G= c.2124G= (p.Lys708=) c.2037G= (p.Lys679=) c.1869G= (p.Lys623=) c.*1532G= (n.*1532G=) c.*760G= (n.*760G=) c.*1437G= (n.*1437G=) c.2475G= (p.Lys825=) c.*83G= (n.*83G=) c.2298G= (p.Lys766=) n.2555G= c.2065G= c.*1973G= (n.*1973G=) c.*1332G= (n.*1332G=) c.*1599G= (n.*1599G=) c.*380G= (n.*380G=) c.2070G= (p.Lys690=) c.*1894G= (n.*1894G=) c.*1945G= (n.*1945G=) c.1881G= (p.Lys627=) c.2274G= (p.Lys758=) n.4214G= c.*2342G= (n.*2342G=) c.2628G= (p.Lys876=) c.*1891G= (n.*1891G=) c.*1943G= (n.*1943G=) c.*2078G= (n.*2078G=) c.*1495G= (n.*1495G=) c.804-4049G= (n.804-4049G=) c.2442G= (p.Lys814=) c.1239G= (p.Lys413=) n.2524G= c.2436G= (p.Lys812=) c.1509G= (p.Lys503=) c.2487G= (p.Lys829=) c.2331G= (p.Lys777=) c.2133G= (p.Lys711=) n.2486G= | |
7 | g.5977591C>G | CA366735541 | PMS2 | c.*1838G>C (n.*1838G>C) c.2439G>C (p.Lys813Asn) c.2334G>C (p.Lys778Asn) c.1802G>C (n.1802G>C) c.*2036G>C (n.*2036G>C) c.2286G>C (p.Lys762Asn) c.*1863G>C (n.*1863G>C) c.2244G>C (p.Lys748Asn) c.*1841G>C (n.*1841G>C) c.*2029G>C (n.*2029G>C) c.*1699G>C (n.*1699G>C) n.3296G>C c.2124G>C (p.Lys708Asn) c.2037G>C (p.Lys679Asn) c.1869G>C (p.Lys623Asn) c.*1532G>C (n.*1532G>C) c.*760G>C (n.*760G>C) c.*1437G>C (n.*1437G>C) c.2475G>C (p.Lys825Asn) c.*83G>C (n.*83G>C) c.2298G>C (p.Lys766Asn) n.2555G>C c.2065G>C c.*1973G>C (n.*1973G>C) c.*1332G>C (n.*1332G>C) c.*1599G>C (n.*1599G>C) c.*380G>C (n.*380G>C) c.2070G>C (p.Lys690Asn) c.*1894G>C (n.*1894G>C) c.*1945G>C (n.*1945G>C) c.1881G>C (p.Lys627Asn) c.2274G>C (p.Lys758Asn) n.4214G>C c.*2342G>C (n.*2342G>C) c.2628G>C (p.Lys876Asn) c.*1891G>C (n.*1891G>C) c.*1943G>C (n.*1943G>C) c.*2078G>C (n.*2078G>C) c.*1495G>C (n.*1495G>C) c.804-4049G>C (n.804-4049G>C) c.2442G>C (p.Lys814Asn) c.1239G>C (p.Lys413Asn) n.2524G>C c.2436G>C (p.Lys812Asn) c.1509G>C (p.Lys503Asn) c.2487G>C (p.Lys829Asn) c.2331G>C (p.Lys777Asn) c.2133G>C (p.Lys711Asn) n.2486G>C | |
7 | g.5977591C>T | CA453642293 | PMS2 | c.*1838G>A (n.*1838G>A) c.2439G>A (p.Lys813=) c.2334G>A (p.Lys778=) c.1802G>A (n.1802G>A) c.*2036G>A (n.*2036G>A) c.2286G>A (p.Lys762=) c.*1863G>A (n.*1863G>A) c.2244G>A (p.Lys748=) c.*1841G>A (n.*1841G>A) c.*2029G>A (n.*2029G>A) c.*1699G>A (n.*1699G>A) n.3296G>A c.2124G>A (p.Lys708=) c.2037G>A (p.Lys679=) c.1869G>A (p.Lys623=) c.*1532G>A (n.*1532G>A) c.*760G>A (n.*760G>A) c.*1437G>A (n.*1437G>A) c.2475G>A (p.Lys825=) c.*83G>A (n.*83G>A) c.2298G>A (p.Lys766=) n.2555G>A c.2065G>A c.*1973G>A (n.*1973G>A) c.*1332G>A (n.*1332G>A) c.*1599G>A (n.*1599G>A) c.*380G>A (n.*380G>A) c.2070G>A (p.Lys690=) c.*1894G>A (n.*1894G>A) c.*1945G>A (n.*1945G>A) c.1881G>A (p.Lys627=) c.2274G>A (p.Lys758=) n.4214G>A c.*2342G>A (n.*2342G>A) c.2628G>A (p.Lys876=) c.*1891G>A (n.*1891G>A) c.*1943G>A (n.*1943G>A) c.*2078G>A (n.*2078G>A) c.*1495G>A (n.*1495G>A) c.804-4049G>A (n.804-4049G>A) c.2442G>A (p.Lys814=) c.1239G>A (p.Lys413=) n.2524G>A c.2436G>A (p.Lys812=) c.1509G>A (p.Lys503=) c.2487G>A (p.Lys829=) c.2331G>A (p.Lys777=) c.2133G>A (p.Lys711=) n.2486G>A | ClinVar dbSNP |
7 | g.5977591_5977595del | CA2578823627 | PMS2 | c.*1834_*1838del (n.*1834_*1838del) c.2435_2439del (p.Arg812LeufsTer9) c.2330_2334del (p.Arg777LeufsTer9) c.1798_1802del (n.1798_1802del) c.*2032_*2036del (n.*2032_*2036del) c.2282_2286del (p.Arg761LeufsTer9) c.*1859_*1863del (n.*1859_*1863del) c.2240_2244del (p.Arg747LeufsTer9) c.*1837_*1841del (n.*1837_*1841del) c.*2025_*2029del (n.*2025_*2029del) c.*1695_*1699del (n.*1695_*1699del) n.3292_3296del c.2120_2124del (p.Arg707LeufsTer9) c.2033_2037del (p.Arg678LeufsTer9) c.1865_1869del (p.Arg622LeufsTer9) c.*1528_*1532del (n.*1528_*1532del) c.*756_*760del (n.*756_*760del) c.*1433_*1437del (n.*1433_*1437del) c.2471_2475del (p.Arg824LeufsTer9) c.*79_*83del (n.*79_*83del) c.2294_2298del (p.Arg765LeufsTer9) n.2551_2555del c.2061_2065del c.*1969_*1973del (n.*1969_*1973del) c.*1328_*1332del (n.*1328_*1332del) c.*1595_*1599del (n.*1595_*1599del) c.*376_*380del (n.*376_*380del) c.2066_2070del (p.Arg689LeufsTer9) c.*1890_*1894del (n.*1890_*1894del) c.*1941_*1945del (n.*1941_*1945del) c.1877_1881del (p.Arg626LeufsTer9) c.2270_2274del (p.Arg757LeufsTer9) n.4210_4214del c.*2338_*2342del (n.*2338_*2342del) c.2624_2628del (p.Arg875LeufsTer9) c.*1887_*1891del (n.*1887_*1891del) c.*1939_*1943del (n.*1939_*1943del) c.*2074_*2078del (n.*2074_*2078del) c.*1491_*1495del (n.*1491_*1495del) c.804-4053_804-4049del (n.804-4053_804-4049del) c.2438_2442del (p.Arg813LeufsTer9) c.1235_1239del (p.Arg412LeufsTer9) n.2520_2524del c.2432_2436del (p.Arg811LeufsTer9) c.1505_1509del (p.Arg502LeufsTer9) c.2483_2487del (p.Arg828LeufsTer9) c.2327_2331del (p.Arg776LeufsTer9) c.2129_2133del (p.Arg710LeufsTer9) n.2482_2486del | ClinVar |
7 | g.5977592T>A | CA366735543 | PMS2 | c.*1837A>T (n.*1837A>T) c.2438A>T (p.Lys813Met) c.2333A>T (p.Lys778Met) c.1801A>T (n.1801A>T) c.*2035A>T (n.*2035A>T) c.2285A>T (p.Lys762Met) c.*1862A>T (n.*1862A>T) c.2243A>T (p.Lys748Met) c.*1840A>T (n.*1840A>T) c.*2028A>T (n.*2028A>T) c.*1698A>T (n.*1698A>T) n.3295A>T c.2123A>T (p.Lys708Met) c.2036A>T (p.Lys679Met) c.1868A>T (p.Lys623Met) c.*1531A>T (n.*1531A>T) c.*759A>T (n.*759A>T) c.*1436A>T (n.*1436A>T) c.2474A>T (p.Lys825Met) c.*82A>T (n.*82A>T) c.2297A>T (p.Lys766Met) n.2554A>T c.2064A>T c.*1972A>T (n.*1972A>T) c.*1331A>T (n.*1331A>T) c.*1598A>T (n.*1598A>T) c.*379A>T (n.*379A>T) c.2069A>T (p.Lys690Met) c.*1893A>T (n.*1893A>T) c.*1944A>T (n.*1944A>T) c.1880A>T (p.Lys627Met) c.2273A>T (p.Lys758Met) n.4213A>T c.*2341A>T (n.*2341A>T) c.2627A>T (p.Lys876Met) c.*1890A>T (n.*1890A>T) c.*1942A>T (n.*1942A>T) c.*2077A>T (n.*2077A>T) c.*1494A>T (n.*1494A>T) c.804-4050A>T (n.804-4050A>T) c.2441A>T (p.Lys814Met) c.1238A>T (p.Lys413Met) n.2523A>T c.2435A>T (p.Lys812Met) c.1508A>T (p.Lys503Met) c.2486A>T (p.Lys829Met) c.2330A>T (p.Lys777Met) c.2132A>T (p.Lys711Met) n.2485A>T | |
7 | g.5977592T>C | CA366735546 | PMS2 | c.*1837A>G (n.*1837A>G) c.2438A>G (p.Lys813Arg) c.2333A>G (p.Lys778Arg) c.1801A>G (n.1801A>G) c.*2035A>G (n.*2035A>G) c.2285A>G (p.Lys762Arg) c.*1862A>G (n.*1862A>G) c.2243A>G (p.Lys748Arg) c.*1840A>G (n.*1840A>G) c.*2028A>G (n.*2028A>G) c.*1698A>G (n.*1698A>G) n.3295A>G c.2123A>G (p.Lys708Arg) c.2036A>G (p.Lys679Arg) c.1868A>G (p.Lys623Arg) c.*1531A>G (n.*1531A>G) c.*759A>G (n.*759A>G) c.*1436A>G (n.*1436A>G) c.2474A>G (p.Lys825Arg) c.*82A>G (n.*82A>G) c.2297A>G (p.Lys766Arg) n.2554A>G c.2064A>G c.*1972A>G (n.*1972A>G) c.*1331A>G (n.*1331A>G) c.*1598A>G (n.*1598A>G) c.*379A>G (n.*379A>G) c.2069A>G (p.Lys690Arg) c.*1893A>G (n.*1893A>G) c.*1944A>G (n.*1944A>G) c.1880A>G (p.Lys627Arg) c.2273A>G (p.Lys758Arg) n.4213A>G c.*2341A>G (n.*2341A>G) c.2627A>G (p.Lys876Arg) c.*1890A>G (n.*1890A>G) c.*1942A>G (n.*1942A>G) c.*2077A>G (n.*2077A>G) c.*1494A>G (n.*1494A>G) c.804-4050A>G (n.804-4050A>G) c.2441A>G (p.Lys814Arg) c.1238A>G (p.Lys413Arg) n.2523A>G c.2435A>G (p.Lys812Arg) c.1508A>G (p.Lys503Arg) c.2486A>G (p.Lys829Arg) c.2330A>G (p.Lys777Arg) c.2132A>G (p.Lys711Arg) n.2485A>G | |
7 | g.5977592T>G | CA366735544 | PMS2 | c.*1837A>C (n.*1837A>C) c.2438A>C (p.Lys813Thr) c.2333A>C (p.Lys778Thr) c.1801A>C (n.1801A>C) c.*2035A>C (n.*2035A>C) c.2285A>C (p.Lys762Thr) c.*1862A>C (n.*1862A>C) c.2243A>C (p.Lys748Thr) c.*1840A>C (n.*1840A>C) c.*2028A>C (n.*2028A>C) c.*1698A>C (n.*1698A>C) n.3295A>C c.2123A>C (p.Lys708Thr) c.2036A>C (p.Lys679Thr) c.1868A>C (p.Lys623Thr) c.*1531A>C (n.*1531A>C) c.*759A>C (n.*759A>C) c.*1436A>C (n.*1436A>C) c.2474A>C (p.Lys825Thr) c.*82A>C (n.*82A>C) c.2297A>C (p.Lys766Thr) n.2554A>C c.2064A>C c.*1972A>C (n.*1972A>C) c.*1331A>C (n.*1331A>C) c.*1598A>C (n.*1598A>C) c.*379A>C (n.*379A>C) c.2069A>C (p.Lys690Thr) c.*1893A>C (n.*1893A>C) c.*1944A>C (n.*1944A>C) c.1880A>C (p.Lys627Thr) c.2273A>C (p.Lys758Thr) n.4213A>C c.*2341A>C (n.*2341A>C) c.2627A>C (p.Lys876Thr) c.*1890A>C (n.*1890A>C) c.*1942A>C (n.*1942A>C) c.*2077A>C (n.*2077A>C) c.*1494A>C (n.*1494A>C) c.804-4050A>C (n.804-4050A>C) c.2441A>C (p.Lys814Thr) c.1238A>C (p.Lys413Thr) n.2523A>C c.2435A>C (p.Lys812Thr) c.1508A>C (p.Lys503Thr) c.2486A>C (p.Lys829Thr) c.2330A>C (p.Lys777Thr) c.2132A>C (p.Lys711Thr) n.2485A>C | |
7 | g.5977593T>A | CA366735548 | PMS2 | c.*1836A>T (n.*1836A>T) c.2437A>T (p.Lys813Ter) c.2332A>T (p.Lys778Ter) c.1800A>T (n.1800A>T) c.*2034A>T (n.*2034A>T) c.2284A>T (p.Lys762Ter) c.*1861A>T (n.*1861A>T) c.2242A>T (p.Lys748Ter) c.*1839A>T (n.*1839A>T) c.*2027A>T (n.*2027A>T) c.*1697A>T (n.*1697A>T) n.3294A>T c.2122A>T (p.Lys708Ter) c.2035A>T (p.Lys679Ter) c.1867A>T (p.Lys623Ter) c.*1530A>T (n.*1530A>T) c.*758A>T (n.*758A>T) c.*1435A>T (n.*1435A>T) c.2473A>T (p.Lys825Ter) c.*81A>T (n.*81A>T) c.2296A>T (p.Lys766Ter) n.2553A>T c.2063A>T c.*1971A>T (n.*1971A>T) c.*1330A>T (n.*1330A>T) c.*1597A>T (n.*1597A>T) c.*378A>T (n.*378A>T) c.2068A>T (p.Lys690Ter) c.*1892A>T (n.*1892A>T) c.*1943A>T (n.*1943A>T) c.1879A>T (p.Lys627Ter) c.2272A>T (p.Lys758Ter) n.4212A>T c.*2340A>T (n.*2340A>T) c.2626A>T (p.Lys876Ter) c.*1889A>T (n.*1889A>T) c.*1941A>T (n.*1941A>T) c.*2076A>T (n.*2076A>T) c.*1493A>T (n.*1493A>T) c.804-4051A>T (n.804-4051A>T) c.2440A>T (p.Lys814Ter) c.1237A>T (p.Lys413Ter) n.2522A>T c.2434A>T (p.Lys812Ter) c.1507A>T (p.Lys503Ter) c.2485A>T (p.Lys829Ter) c.2329A>T (p.Lys777Ter) c.2131A>T (p.Lys711Ter) n.2484A>T | |
7 | g.5977593T>C | CA366735550 | PMS2 | c.*1836A>G (n.*1836A>G) c.2437A>G (p.Lys813Glu) c.2332A>G (p.Lys778Glu) c.1800A>G (n.1800A>G) c.*2034A>G (n.*2034A>G) c.2284A>G (p.Lys762Glu) c.*1861A>G (n.*1861A>G) c.2242A>G (p.Lys748Glu) c.*1839A>G (n.*1839A>G) c.*2027A>G (n.*2027A>G) c.*1697A>G (n.*1697A>G) n.3294A>G c.2122A>G (p.Lys708Glu) c.2035A>G (p.Lys679Glu) c.1867A>G (p.Lys623Glu) c.*1530A>G (n.*1530A>G) c.*758A>G (n.*758A>G) c.*1435A>G (n.*1435A>G) c.2473A>G (p.Lys825Glu) c.*81A>G (n.*81A>G) c.2296A>G (p.Lys766Glu) n.2553A>G c.2063A>G c.*1971A>G (n.*1971A>G) c.*1330A>G (n.*1330A>G) c.*1597A>G (n.*1597A>G) c.*378A>G (n.*378A>G) c.2068A>G (p.Lys690Glu) c.*1892A>G (n.*1892A>G) c.*1943A>G (n.*1943A>G) c.1879A>G (p.Lys627Glu) c.2272A>G (p.Lys758Glu) n.4212A>G c.*2340A>G (n.*2340A>G) c.2626A>G (p.Lys876Glu) c.*1889A>G (n.*1889A>G) c.*1941A>G (n.*1941A>G) c.*2076A>G (n.*2076A>G) c.*1493A>G (n.*1493A>G) c.804-4051A>G (n.804-4051A>G) c.2440A>G (p.Lys814Glu) c.1237A>G (p.Lys413Glu) n.2522A>G c.2434A>G (p.Lys812Glu) c.1507A>G (p.Lys503Glu) c.2485A>G (p.Lys829Glu) c.2329A>G (p.Lys777Glu) c.2131A>G (p.Lys711Glu) n.2484A>G | |
7 | g.5977593T>G | CA366735551 | PMS2 | c.*1836A>C (n.*1836A>C) c.2437A>C (p.Lys813Gln) c.2332A>C (p.Lys778Gln) c.1800A>C (n.1800A>C) c.*2034A>C (n.*2034A>C) c.2284A>C (p.Lys762Gln) c.*1861A>C (n.*1861A>C) c.2242A>C (p.Lys748Gln) c.*1839A>C (n.*1839A>C) c.*2027A>C (n.*2027A>C) c.*1697A>C (n.*1697A>C) n.3294A>C c.2122A>C (p.Lys708Gln) c.2035A>C (p.Lys679Gln) c.1867A>C (p.Lys623Gln) c.*1530A>C (n.*1530A>C) c.*758A>C (n.*758A>C) c.*1435A>C (n.*1435A>C) c.2473A>C (p.Lys825Gln) c.*81A>C (n.*81A>C) c.2296A>C (p.Lys766Gln) n.2553A>C c.2063A>C c.*1971A>C (n.*1971A>C) c.*1330A>C (n.*1330A>C) c.*1597A>C (n.*1597A>C) c.*378A>C (n.*378A>C) c.2068A>C (p.Lys690Gln) c.*1892A>C (n.*1892A>C) c.*1943A>C (n.*1943A>C) c.1879A>C (p.Lys627Gln) c.2272A>C (p.Lys758Gln) n.4212A>C c.*2340A>C (n.*2340A>C) c.2626A>C (p.Lys876Gln) c.*1889A>C (n.*1889A>C) c.*1941A>C (n.*1941A>C) c.*2076A>C (n.*2076A>C) c.*1493A>C (n.*1493A>C) c.804-4051A>C (n.804-4051A>C) c.2440A>C (p.Lys814Gln) c.1237A>C (p.Lys413Gln) n.2522A>C c.2434A>C (p.Lys812Gln) c.1507A>C (p.Lys503Gln) c.2485A>C (p.Lys829Gln) c.2329A>C (p.Lys777Gln) c.2131A>C (p.Lys711Gln) n.2484A>C | dbSNP gnomAD v2 gnomAD v4 |
7 | g.5977593T= | CA1685250003 | PMS2 | c.*1836A= (n.*1836A=) c.2437A= (p.Lys813=) c.2332A= (p.Lys778=) c.1800A= (n.1800A=) c.*2034A= (n.*2034A=) c.2284A= (p.Lys762=) c.*1861A= (n.*1861A=) c.2242A= (p.Lys748=) c.*1839A= (n.*1839A=) c.*2027A= (n.*2027A=) c.*1697A= (n.*1697A=) n.3294A= c.2122A= (p.Lys708=) c.2035A= (p.Lys679=) c.1867A= (p.Lys623=) c.*1530A= (n.*1530A=) c.*758A= (n.*758A=) c.*1435A= (n.*1435A=) c.2473A= (p.Lys825=) c.*81A= (n.*81A=) c.2296A= (p.Lys766=) n.2553A= c.2063A= c.*1971A= (n.*1971A=) c.*1330A= (n.*1330A=) c.*1597A= (n.*1597A=) c.*378A= (n.*378A=) c.2068A= (p.Lys690=) c.*1892A= (n.*1892A=) c.*1943A= (n.*1943A=) c.1879A= (p.Lys627=) c.2272A= (p.Lys758=) n.4212A= c.*2340A= (n.*2340A=) c.2626A= (p.Lys876=) c.*1889A= (n.*1889A=) c.*1941A= (n.*1941A=) c.*2076A= (n.*2076A=) c.*1493A= (n.*1493A=) c.804-4051A= (n.804-4051A=) c.2440A= (p.Lys814=) c.1237A= (p.Lys413=) n.2522A= c.2434A= (p.Lys812=) c.1507A= (p.Lys503=) c.2485A= (p.Lys829=) c.2329A= (p.Lys777=) c.2131A= (p.Lys711=) n.2484A= | |
7 | g.5977594C>A | CA048173 | PMS2 | c.*1835G>T (n.*1835G>T) c.2436G>T (p.Arg812=) c.2331G>T (p.Arg777=) c.1799G>T (n.1799G>T) c.*2033G>T (n.*2033G>T) c.2283G>T (p.Arg761=) c.*1860G>T (n.*1860G>T) c.2241G>T (p.Arg747=) c.*1838G>T (n.*1838G>T) c.*2026G>T (n.*2026G>T) c.*1696G>T (n.*1696G>T) n.3293G>T c.2121G>T (p.Arg707=) c.2034G>T (p.Arg678=) c.1866G>T (p.Arg622=) c.*1529G>T (n.*1529G>T) c.*757G>T (n.*757G>T) c.*1434G>T (n.*1434G>T) c.2472G>T (p.Arg824=) c.*80G>T (n.*80G>T) c.2295G>T (p.Arg765=) n.2552G>T c.2062G>T c.*1970G>T (n.*1970G>T) c.*1329G>T (n.*1329G>T) c.*1596G>T (n.*1596G>T) c.*377G>T (n.*377G>T) c.2067G>T (p.Arg689=) c.*1891G>T (n.*1891G>T) c.*1942G>T (n.*1942G>T) c.1878G>T (p.Arg626=) c.2271G>T (p.Arg757=) n.4211G>T c.*2339G>T (n.*2339G>T) c.2625G>T (p.Arg875=) c.*1888G>T (n.*1888G>T) c.*1940G>T (n.*1940G>T) c.*2075G>T (n.*2075G>T) c.*1492G>T (n.*1492G>T) c.804-4052G>T (n.804-4052G>T) c.2439G>T (p.Arg813=) c.1236G>T (p.Arg412=) n.2521G>T c.2433G>T (p.Arg811=) c.1506G>T (p.Arg502=) c.2484G>T (p.Arg828=) c.2328G>T (p.Arg776=) c.2130G>T (p.Arg710=) n.2483G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.5977594C= | CA1685250005 | PMS2 | c.*1835G= (n.*1835G=) c.2436G= (p.Arg812=) c.2331G= (p.Arg777=) c.1799G= (n.1799G=) c.*2033G= (n.*2033G=) c.2283G= (p.Arg761=) c.*1860G= (n.*1860G=) c.2241G= (p.Arg747=) c.*1838G= (n.*1838G=) c.*2026G= (n.*2026G=) c.*1696G= (n.*1696G=) n.3293G= c.2121G= (p.Arg707=) c.2034G= (p.Arg678=) c.1866G= (p.Arg622=) c.*1529G= (n.*1529G=) c.*757G= (n.*757G=) c.*1434G= (n.*1434G=) c.2472G= (p.Arg824=) c.*80G= (n.*80G=) c.2295G= (p.Arg765=) n.2552G= c.2062G= c.*1970G= (n.*1970G=) c.*1329G= (n.*1329G=) c.*1596G= (n.*1596G=) c.*377G= (n.*377G=) c.2067G= (p.Arg689=) c.*1891G= (n.*1891G=) c.*1942G= (n.*1942G=) c.1878G= (p.Arg626=) c.2271G= (p.Arg757=) n.4211G= c.*2339G= (n.*2339G=) c.2625G= (p.Arg875=) c.*1888G= (n.*1888G=) c.*1940G= (n.*1940G=) c.*2075G= (n.*2075G=) c.*1492G= (n.*1492G=) c.804-4052G= (n.804-4052G=) c.2439G= (p.Arg813=) c.1236G= (p.Arg412=) n.2521G= c.2433G= (p.Arg811=) c.1506G= (p.Arg502=) c.2484G= (p.Arg828=) c.2328G= (p.Arg776=) c.2130G= (p.Arg710=) n.2483G= | |
7 | g.5977594C>G | CA453642295 | PMS2 | c.*1835G>C (n.*1835G>C) c.2436G>C (p.Arg812=) c.2331G>C (p.Arg777=) c.1799G>C (n.1799G>C) c.*2033G>C (n.*2033G>C) c.2283G>C (p.Arg761=) c.*1860G>C (n.*1860G>C) c.2241G>C (p.Arg747=) c.*1838G>C (n.*1838G>C) c.*2026G>C (n.*2026G>C) c.*1696G>C (n.*1696G>C) n.3293G>C c.2121G>C (p.Arg707=) c.2034G>C (p.Arg678=) c.1866G>C (p.Arg622=) c.*1529G>C (n.*1529G>C) c.*757G>C (n.*757G>C) c.*1434G>C (n.*1434G>C) c.2472G>C (p.Arg824=) c.*80G>C (n.*80G>C) c.2295G>C (p.Arg765=) n.2552G>C c.2062G>C c.*1970G>C (n.*1970G>C) c.*1329G>C (n.*1329G>C) c.*1596G>C (n.*1596G>C) c.*377G>C (n.*377G>C) c.2067G>C (p.Arg689=) c.*1891G>C (n.*1891G>C) c.*1942G>C (n.*1942G>C) c.1878G>C (p.Arg626=) c.2271G>C (p.Arg757=) n.4211G>C c.*2339G>C (n.*2339G>C) c.2625G>C (p.Arg875=) c.*1888G>C (n.*1888G>C) c.*1940G>C (n.*1940G>C) c.*2075G>C (n.*2075G>C) c.*1492G>C (n.*1492G>C) c.804-4052G>C (n.804-4052G>C) c.2439G>C (p.Arg813=) c.1236G>C (p.Arg412=) n.2521G>C c.2433G>C (p.Arg811=) c.1506G>C (p.Arg502=) c.2484G>C (p.Arg828=) c.2328G>C (p.Arg776=) c.2130G>C (p.Arg710=) n.2483G>C | ClinVar dbSNP |
7 | g.5977594C>T | CA453642297 | PMS2 | c.*1835G>A (n.*1835G>A) c.2436G>A (p.Arg812=) c.2331G>A (p.Arg777=) c.1799G>A (n.1799G>A) c.*2033G>A (n.*2033G>A) c.2283G>A (p.Arg761=) c.*1860G>A (n.*1860G>A) c.2241G>A (p.Arg747=) c.*1838G>A (n.*1838G>A) c.*2026G>A (n.*2026G>A) c.*1696G>A (n.*1696G>A) n.3293G>A c.2121G>A (p.Arg707=) c.2034G>A (p.Arg678=) c.1866G>A (p.Arg622=) c.*1529G>A (n.*1529G>A) c.*757G>A (n.*757G>A) c.*1434G>A (n.*1434G>A) c.2472G>A (p.Arg824=) c.*80G>A (n.*80G>A) c.2295G>A (p.Arg765=) n.2552G>A c.2062G>A c.*1970G>A (n.*1970G>A) c.*1329G>A (n.*1329G>A) c.*1596G>A (n.*1596G>A) c.*377G>A (n.*377G>A) c.2067G>A (p.Arg689=) c.*1891G>A (n.*1891G>A) c.*1942G>A (n.*1942G>A) c.1878G>A (p.Arg626=) c.2271G>A (p.Arg757=) n.4211G>A c.*2339G>A (n.*2339G>A) c.2625G>A (p.Arg875=) c.*1888G>A (n.*1888G>A) c.*1940G>A (n.*1940G>A) c.*2075G>A (n.*2075G>A) c.*1492G>A (n.*1492G>A) c.804-4052G>A (n.804-4052G>A) c.2439G>A (p.Arg813=) c.1236G>A (p.Arg412=) n.2521G>A c.2433G>A (p.Arg811=) c.1506G>A (p.Arg502=) c.2484G>A (p.Arg828=) c.2328G>A (p.Arg776=) c.2130G>A (p.Arg710=) n.2483G>A | ClinVar dbSNP |
7 | g.5977595del | CA2580076781 | PMS2 | c.*1835del (n.*1835del) c.2436del (p.Lys813SerfsTer3) c.2331del (p.Lys778SerfsTer3) c.1799del (n.1799del) c.*2033del (n.*2033del) c.2283del (p.Lys762SerfsTer3) c.*1860del (n.*1860del) c.2241del (p.Lys748SerfsTer3) c.*1838del (n.*1838del) c.*2026del (n.*2026del) c.*1696del (n.*1696del) n.3293del c.2121del (p.Lys708SerfsTer3) c.2034del (p.Lys679SerfsTer3) c.1866del (p.Lys623SerfsTer3) c.*1529del (n.*1529del) c.*757del (n.*757del) c.*1434del (n.*1434del) c.2472del (p.Lys825SerfsTer3) c.*80del (n.*80del) c.2295del (p.Lys766SerfsTer3) n.2552del c.2062del c.*1970del (n.*1970del) c.*1329del (n.*1329del) c.*1596del (n.*1596del) c.*377del (n.*377del) c.2067del (p.Lys690SerfsTer3) c.*1891del (n.*1891del) c.*1942del (n.*1942del) c.1878del (p.Lys627SerfsTer3) c.2271del (p.Lys758SerfsTer3) n.4211del c.*2339del (n.*2339del) c.2625del (p.Lys876SerfsTer3) c.*1888del (n.*1888del) c.*1940del (n.*1940del) c.*2075del (n.*2075del) c.*1492del (n.*1492del) c.804-4052del (n.804-4052del) c.2439del (p.Lys814SerfsTer3) c.1236del (p.Lys413SerfsTer3) n.2521del c.2433del (p.Lys812SerfsTer3) c.1506del (p.Lys503SerfsTer3) c.2484del (p.Lys829SerfsTer3) c.2328del (p.Lys777SerfsTer3) c.2130del (p.Lys711SerfsTer3) n.2483del | ClinVar |
7 | g.5977595C>A | CA011492 | PMS2 | c.*1834G>T (n.*1834G>T) c.2435G>T (p.Arg812Leu) c.2330G>T (p.Arg777Leu) c.1798G>T (n.1798G>T) c.*2032G>T (n.*2032G>T) c.2282G>T (p.Arg761Leu) c.*1859G>T (n.*1859G>T) c.2240G>T (p.Arg747Leu) c.*1837G>T (n.*1837G>T) c.*2025G>T (n.*2025G>T) c.*1695G>T (n.*1695G>T) n.3292G>T c.2120G>T (p.Arg707Leu) c.2033G>T (p.Arg678Leu) c.1865G>T (p.Arg622Leu) c.*1528G>T (n.*1528G>T) c.*756G>T (n.*756G>T) c.*1433G>T (n.*1433G>T) c.2471G>T (p.Arg824Leu) c.*79G>T (n.*79G>T) c.2294G>T (p.Arg765Leu) n.2551G>T c.2061G>T c.*1969G>T (n.*1969G>T) c.*1328G>T (n.*1328G>T) c.*1595G>T (n.*1595G>T) c.*376G>T (n.*376G>T) c.2066G>T (p.Arg689Leu) c.*1890G>T (n.*1890G>T) c.*1941G>T (n.*1941G>T) c.1877G>T (p.Arg626Leu) c.2270G>T (p.Arg757Leu) n.4210G>T c.*2338G>T (n.*2338G>T) c.2624G>T (p.Arg875Leu) c.*1887G>T (n.*1887G>T) c.*1939G>T (n.*1939G>T) c.*2074G>T (n.*2074G>T) c.*1491G>T (n.*1491G>T) c.804-4053G>T (n.804-4053G>T) c.2438G>T (p.Arg813Leu) c.1235G>T (p.Arg412Leu) n.2520G>T c.2432G>T (p.Arg811Leu) c.1505G>T (p.Arg502Leu) c.2483G>T (p.Arg828Leu) c.2327G>T (p.Arg776Leu) c.2129G>T (p.Arg710Leu) n.2482G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.5977595C= | CA1685250008 | PMS2 | c.*1834G= (n.*1834G=) c.2435G= (p.Arg812=) c.2330G= (p.Arg777=) c.1798G= (n.1798G=) c.*2032G= (n.*2032G=) c.2282G= (p.Arg761=) c.*1859G= (n.*1859G=) c.2240G= (p.Arg747=) c.*1837G= (n.*1837G=) c.*2025G= (n.*2025G=) c.*1695G= (n.*1695G=) n.3292G= c.2120G= (p.Arg707=) c.2033G= (p.Arg678=) c.1865G= (p.Arg622=) c.*1528G= (n.*1528G=) c.*756G= (n.*756G=) c.*1433G= (n.*1433G=) c.2471G= (p.Arg824=) c.*79G= (n.*79G=) c.2294G= (p.Arg765=) n.2551G= c.2061G= c.*1969G= (n.*1969G=) c.*1328G= (n.*1328G=) c.*1595G= (n.*1595G=) c.*376G= (n.*376G=) c.2066G= (p.Arg689=) c.*1890G= (n.*1890G=) c.*1941G= (n.*1941G=) c.1877G= (p.Arg626=) c.2270G= (p.Arg757=) n.4210G= c.*2338G= (n.*2338G=) c.2624G= (p.Arg875=) c.*1887G= (n.*1887G=) c.*1939G= (n.*1939G=) c.*2074G= (n.*2074G=) c.*1491G= (n.*1491G=) c.804-4053G= (n.804-4053G=) c.2438G= (p.Arg813=) c.1235G= (p.Arg412=) n.2520G= c.2432G= (p.Arg811=) c.1505G= (p.Arg502=) c.2483G= (p.Arg828=) c.2327G= (p.Arg776=) c.2129G= (p.Arg710=) n.2482G= | |
7 | g.5977595C>G | CA366735556 | PMS2 | c.*1834G>C (n.*1834G>C) c.2435G>C (p.Arg812Pro) c.2330G>C (p.Arg777Pro) c.1798G>C (n.1798G>C) c.*2032G>C (n.*2032G>C) c.2282G>C (p.Arg761Pro) c.*1859G>C (n.*1859G>C) c.2240G>C (p.Arg747Pro) c.*1837G>C (n.*1837G>C) c.*2025G>C (n.*2025G>C) c.*1695G>C (n.*1695G>C) n.3292G>C c.2120G>C (p.Arg707Pro) c.2033G>C (p.Arg678Pro) c.1865G>C (p.Arg622Pro) c.*1528G>C (n.*1528G>C) c.*756G>C (n.*756G>C) c.*1433G>C (n.*1433G>C) c.2471G>C (p.Arg824Pro) c.*79G>C (n.*79G>C) c.2294G>C (p.Arg765Pro) n.2551G>C c.2061G>C c.*1969G>C (n.*1969G>C) c.*1328G>C (n.*1328G>C) c.*1595G>C (n.*1595G>C) c.*376G>C (n.*376G>C) c.2066G>C (p.Arg689Pro) c.*1890G>C (n.*1890G>C) c.*1941G>C (n.*1941G>C) c.1877G>C (p.Arg626Pro) c.2270G>C (p.Arg757Pro) n.4210G>C c.*2338G>C (n.*2338G>C) c.2624G>C (p.Arg875Pro) c.*1887G>C (n.*1887G>C) c.*1939G>C (n.*1939G>C) c.*2074G>C (n.*2074G>C) c.*1491G>C (n.*1491G>C) c.804-4053G>C (n.804-4053G>C) c.2438G>C (p.Arg813Pro) c.1235G>C (p.Arg412Pro) n.2520G>C c.2432G>C (p.Arg811Pro) c.1505G>C (p.Arg502Pro) c.2483G>C (p.Arg828Pro) c.2327G>C (p.Arg776Pro) c.2129G>C (p.Arg710Pro) n.2482G>C | ClinVar dbSNP |
7 | g.5977595C>T | CA16618486 | PMS2 | c.*1834G>A (n.*1834G>A) c.2435G>A (p.Arg812Gln) c.2330G>A (p.Arg777Gln) c.1798G>A (n.1798G>A) c.*2032G>A (n.*2032G>A) c.2282G>A (p.Arg761Gln) c.*1859G>A (n.*1859G>A) c.2240G>A (p.Arg747Gln) c.*1837G>A (n.*1837G>A) c.*2025G>A (n.*2025G>A) c.*1695G>A (n.*1695G>A) n.3292G>A c.2120G>A (p.Arg707Gln) c.2033G>A (p.Arg678Gln) c.1865G>A (p.Arg622Gln) c.*1528G>A (n.*1528G>A) c.*756G>A (n.*756G>A) c.*1433G>A (n.*1433G>A) c.2471G>A (p.Arg824Gln) c.*79G>A (n.*79G>A) c.2294G>A (p.Arg765Gln) n.2551G>A c.2061G>A c.*1969G>A (n.*1969G>A) c.*1328G>A (n.*1328G>A) c.*1595G>A (n.*1595G>A) c.*376G>A (n.*376G>A) c.2066G>A (p.Arg689Gln) c.*1890G>A (n.*1890G>A) c.*1941G>A (n.*1941G>A) c.1877G>A (p.Arg626Gln) c.2270G>A (p.Arg757Gln) n.4210G>A c.*2338G>A (n.*2338G>A) c.2624G>A (p.Arg875Gln) c.*1887G>A (n.*1887G>A) c.*1939G>A (n.*1939G>A) c.*2074G>A (n.*2074G>A) c.*1491G>A (n.*1491G>A) c.804-4053G>A (n.804-4053G>A) c.2438G>A (p.Arg813Gln) c.1235G>A (p.Arg412Gln) n.2520G>A c.2432G>A (p.Arg811Gln) c.1505G>A (p.Arg502Gln) c.2483G>A (p.Arg828Gln) c.2327G>A (p.Arg776Gln) c.2129G>A (p.Arg710Gln) n.2482G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.5977596G>A | CA011485 | PMS2 | c.*1833C>T (n.*1833C>T) c.2434C>T (p.Arg812Trp) c.2329C>T (p.Arg777Trp) c.1797C>T (n.1797C>T) c.*2031C>T (n.*2031C>T) c.2281C>T (p.Arg761Trp) c.*1858C>T (n.*1858C>T) c.2239C>T (p.Arg747Trp) c.*1836C>T (n.*1836C>T) c.*2024C>T (n.*2024C>T) c.*1694C>T (n.*1694C>T) n.3291C>T c.2119C>T (p.Arg707Trp) c.2032C>T (p.Arg678Trp) c.1864C>T (p.Arg622Trp) c.*1527C>T (n.*1527C>T) c.*755C>T (n.*755C>T) c.*1432C>T (n.*1432C>T) c.2470C>T (p.Arg824Trp) c.*78C>T (n.*78C>T) c.2293C>T (p.Arg765Trp) n.2550C>T c.2060C>T c.*1968C>T (n.*1968C>T) c.*1327C>T (n.*1327C>T) c.*1594C>T (n.*1594C>T) c.*375C>T (n.*375C>T) c.2065C>T (p.Arg689Trp) c.*1889C>T (n.*1889C>T) c.*1940C>T (n.*1940C>T) c.1876C>T (p.Arg626Trp) c.2269C>T (p.Arg757Trp) n.4209C>T c.*2337C>T (n.*2337C>T) c.2623C>T (p.Arg875Trp) c.*1886C>T (n.*1886C>T) c.*1938C>T (n.*1938C>T) c.*2073C>T (n.*2073C>T) c.*1490C>T (n.*1490C>T) c.804-4054C>T (n.804-4054C>T) c.2437C>T (p.Arg813Trp) c.1234C>T (p.Arg412Trp) n.2519C>T c.2431C>T (p.Arg811Trp) c.1504C>T (p.Arg502Trp) c.2482C>T (p.Arg828Trp) c.2326C>T (p.Arg776Trp) c.2128C>T (p.Arg710Trp) n.2481C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |