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.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.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 | ClinVar |
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 |
7 | g.5977619T= | CA1685250085 | PMS2 | c.*1810A= (n.*1810A=) c.2411A= (p.Gln804=) c.2306A= (p.Gln769=) c.1774A= (n.1774A=) c.*2008A= (n.*2008A=) c.2258A= (p.Gln753=) c.*1835A= (n.*1835A=) c.2216A= (p.Gln739=) c.*1813A= (n.*1813A=) c.*2001A= (n.*2001A=) c.*1671A= (n.*1671A=) n.3268A= c.2096A= (p.Gln699=) c.2009A= (p.Gln670=) c.1841A= (p.Gln614=) c.*1504A= (n.*1504A=) c.*732A= (n.*732A=) c.*1409A= (n.*1409A=) c.2447A= (p.Gln816=) c.*55A= (n.*55A=) c.2270A= (p.Gln757=) n.2527A= c.2037A= c.*1945A= (n.*1945A=) c.*1304A= (n.*1304A=) c.*1571A= (n.*1571A=) c.*352A= (n.*352A=) c.2042A= (p.Gln681=) c.*1866A= (n.*1866A=) c.*1917A= (n.*1917A=) c.1853A= (p.Gln618=) c.2246A= (p.Gln749=) n.4186A= c.*2314A= (n.*2314A=) c.2600A= (p.Gln867=) c.*1863A= (n.*1863A=) c.*1915A= (n.*1915A=) c.*2050A= (n.*2050A=) c.*1467A= (n.*1467A=) c.804-4077A= (n.804-4077A=) c.2414A= (p.Gln805=) c.1211A= (p.Gln404=) n.2496A= c.2408A= (p.Gln803=) c.1481A= (p.Gln494=) c.2459A= (p.Gln820=) c.2303A= (p.Gln768=) c.2105A= (p.Gln702=) n.2458A= | |
7 | g.5977620G>A | CA366735640 | PMS2 | c.*1809C>T (n.*1809C>T) c.2410C>T (p.Gln804Ter) c.2305C>T (p.Gln769Ter) c.1773C>T (n.1773C>T) c.*2007C>T (n.*2007C>T) c.2257C>T (p.Gln753Ter) c.*1834C>T (n.*1834C>T) c.2215C>T (p.Gln739Ter) c.*1812C>T (n.*1812C>T) c.*2000C>T (n.*2000C>T) c.*1670C>T (n.*1670C>T) n.3267C>T c.2095C>T (p.Gln699Ter) c.2008C>T (p.Gln670Ter) c.1840C>T (p.Gln614Ter) c.*1503C>T (n.*1503C>T) c.*731C>T (n.*731C>T) c.*1408C>T (n.*1408C>T) c.2446C>T (p.Gln816Ter) c.*54C>T (n.*54C>T) c.2269C>T (p.Gln757Ter) n.2526C>T c.2036C>T c.*1944C>T (n.*1944C>T) c.*1303C>T (n.*1303C>T) c.*1570C>T (n.*1570C>T) c.*351C>T (n.*351C>T) c.2041C>T (p.Gln681Ter) c.*1865C>T (n.*1865C>T) c.*1916C>T (n.*1916C>T) c.1852C>T (p.Gln618Ter) c.2245C>T (p.Gln749Ter) n.4185C>T c.*2313C>T (n.*2313C>T) c.2599C>T (p.Gln867Ter) c.*1862C>T (n.*1862C>T) c.*1914C>T (n.*1914C>T) c.*2049C>T (n.*2049C>T) c.*1466C>T (n.*1466C>T) c.804-4078C>T (n.804-4078C>T) c.2413C>T (p.Gln805Ter) c.1210C>T (p.Gln404Ter) n.2495C>T c.2407C>T (p.Gln803Ter) c.1480C>T (p.Gln494Ter) c.2458C>T (p.Gln820Ter) c.2302C>T (p.Gln768Ter) c.2104C>T (p.Gln702Ter) n.2457C>T | ClinVar dbSNP gnomAD v4 |
7 | g.5977620G>C | CA366735642 | PMS2 | c.*1809C>G (n.*1809C>G) c.2410C>G (p.Gln804Glu) c.2305C>G (p.Gln769Glu) c.1773C>G (n.1773C>G) c.*2007C>G (n.*2007C>G) c.2257C>G (p.Gln753Glu) c.*1834C>G (n.*1834C>G) c.2215C>G (p.Gln739Glu) c.*1812C>G (n.*1812C>G) c.*2000C>G (n.*2000C>G) c.*1670C>G (n.*1670C>G) n.3267C>G c.2095C>G (p.Gln699Glu) c.2008C>G (p.Gln670Glu) c.1840C>G (p.Gln614Glu) c.*1503C>G (n.*1503C>G) c.*731C>G (n.*731C>G) c.*1408C>G (n.*1408C>G) c.2446C>G (p.Gln816Glu) c.*54C>G (n.*54C>G) c.2269C>G (p.Gln757Glu) n.2526C>G c.2036C>G c.*1944C>G (n.*1944C>G) c.*1303C>G (n.*1303C>G) c.*1570C>G (n.*1570C>G) c.*351C>G (n.*351C>G) c.2041C>G (p.Gln681Glu) c.*1865C>G (n.*1865C>G) c.*1916C>G (n.*1916C>G) c.1852C>G (p.Gln618Glu) c.2245C>G (p.Gln749Glu) n.4185C>G c.*2313C>G (n.*2313C>G) c.2599C>G (p.Gln867Glu) c.*1862C>G (n.*1862C>G) c.*1914C>G (n.*1914C>G) c.*2049C>G (n.*2049C>G) c.*1466C>G (n.*1466C>G) c.804-4078C>G (n.804-4078C>G) c.2413C>G (p.Gln805Glu) c.1210C>G (p.Gln404Glu) n.2495C>G c.2407C>G (p.Gln803Glu) c.1480C>G (p.Gln494Glu) c.2458C>G (p.Gln820Glu) c.2302C>G (p.Gln768Glu) c.2104C>G (p.Gln702Glu) n.2457C>G | dbSNP |
7 | g.5977620G= | CA1685250090 | PMS2 | c.*1809C= (n.*1809C=) c.2410C= (p.Gln804=) c.2305C= (p.Gln769=) c.1773C= (n.1773C=) c.*2007C= (n.*2007C=) c.2257C= (p.Gln753=) c.*1834C= (n.*1834C=) c.2215C= (p.Gln739=) c.*1812C= (n.*1812C=) c.*2000C= (n.*2000C=) c.*1670C= (n.*1670C=) n.3267C= c.2095C= (p.Gln699=) c.2008C= (p.Gln670=) c.1840C= (p.Gln614=) c.*1503C= (n.*1503C=) c.*731C= (n.*731C=) c.*1408C= (n.*1408C=) c.2446C= (p.Gln816=) c.*54C= (n.*54C=) c.2269C= (p.Gln757=) n.2526C= c.2036C= c.*1944C= (n.*1944C=) c.*1303C= (n.*1303C=) c.*1570C= (n.*1570C=) c.*351C= (n.*351C=) c.2041C= (p.Gln681=) c.*1865C= (n.*1865C=) c.*1916C= (n.*1916C=) c.1852C= (p.Gln618=) c.2245C= (p.Gln749=) n.4185C= c.*2313C= (n.*2313C=) c.2599C= (p.Gln867=) c.*1862C= (n.*1862C=) c.*1914C= (n.*1914C=) c.*2049C= (n.*2049C=) c.*1466C= (n.*1466C=) c.804-4078C= (n.804-4078C=) c.2413C= (p.Gln805=) c.1210C= (p.Gln404=) n.2495C= c.2407C= (p.Gln803=) c.1480C= (p.Gln494=) c.2458C= (p.Gln820=) c.2302C= (p.Gln768=) c.2104C= (p.Gln702=) n.2457C= | |
7 | g.5977620G>T | CA366735644 | PMS2 | c.*1809C>A (n.*1809C>A) c.2410C>A (p.Gln804Lys) c.2305C>A (p.Gln769Lys) c.1773C>A (n.1773C>A) c.*2007C>A (n.*2007C>A) c.2257C>A (p.Gln753Lys) c.*1834C>A (n.*1834C>A) c.2215C>A (p.Gln739Lys) c.*1812C>A (n.*1812C>A) c.*2000C>A (n.*2000C>A) c.*1670C>A (n.*1670C>A) n.3267C>A c.2095C>A (p.Gln699Lys) c.2008C>A (p.Gln670Lys) c.1840C>A (p.Gln614Lys) c.*1503C>A (n.*1503C>A) c.*731C>A (n.*731C>A) c.*1408C>A (n.*1408C>A) c.2446C>A (p.Gln816Lys) c.*54C>A (n.*54C>A) c.2269C>A (p.Gln757Lys) n.2526C>A c.2036C>A c.*1944C>A (n.*1944C>A) c.*1303C>A (n.*1303C>A) c.*1570C>A (n.*1570C>A) c.*351C>A (n.*351C>A) c.2041C>A (p.Gln681Lys) c.*1865C>A (n.*1865C>A) c.*1916C>A (n.*1916C>A) c.1852C>A (p.Gln618Lys) c.2245C>A (p.Gln749Lys) n.4185C>A c.*2313C>A (n.*2313C>A) c.2599C>A (p.Gln867Lys) c.*1862C>A (n.*1862C>A) c.*1914C>A (n.*1914C>A) c.*2049C>A (n.*2049C>A) c.*1466C>A (n.*1466C>A) c.804-4078C>A (n.804-4078C>A) c.2413C>A (p.Gln805Lys) c.1210C>A (p.Gln404Lys) n.2495C>A c.2407C>A (p.Gln803Lys) c.1480C>A (p.Gln494Lys) c.2458C>A (p.Gln820Lys) c.2302C>A (p.Gln768Lys) c.2104C>A (p.Gln702Lys) n.2457C>A | dbSNP |
7 | g.5977621C>A | CA366735645 | PMS2 | c.*1808G>T (n.*1808G>T) c.2409G>T (p.Lys803Asn) c.2304G>T (p.Lys768Asn) c.1772G>T (n.1772G>T) c.*2006G>T (n.*2006G>T) c.2256G>T (p.Lys752Asn) c.*1833G>T (n.*1833G>T) c.2214G>T (p.Lys738Asn) c.*1811G>T (n.*1811G>T) c.*1999G>T (n.*1999G>T) c.*1669G>T (n.*1669G>T) n.3266G>T c.2094G>T (p.Lys698Asn) c.2007G>T (p.Lys669Asn) c.1839G>T (p.Lys613Asn) c.*1502G>T (n.*1502G>T) c.*730G>T (n.*730G>T) c.*1407G>T (n.*1407G>T) c.2445G>T (p.Lys815Asn) c.*53G>T (n.*53G>T) c.2268G>T (p.Lys756Asn) n.2525G>T c.2035G>T c.*1943G>T (n.*1943G>T) c.*1302G>T (n.*1302G>T) c.*1569G>T (n.*1569G>T) c.*350G>T (n.*350G>T) c.2040G>T (p.Lys680Asn) c.*1864G>T (n.*1864G>T) c.*1915G>T (n.*1915G>T) c.1851G>T (p.Lys617Asn) c.2244G>T (p.Lys748Asn) n.4184G>T c.*2312G>T (n.*2312G>T) c.2598G>T (p.Lys866Asn) c.*1861G>T (n.*1861G>T) c.*1913G>T (n.*1913G>T) c.*2048G>T (n.*2048G>T) c.*1465G>T (n.*1465G>T) c.804-4079G>T (n.804-4079G>T) c.2412G>T (p.Lys804Asn) c.1209G>T (p.Lys403Asn) n.2494G>T c.2406G>T (p.Lys802Asn) c.1479G>T (p.Lys493Asn) c.2457G>T (p.Lys819Asn) c.2301G>T (p.Lys767Asn) c.2103G>T (p.Lys701Asn) n.2456G>T | ClinVar |
7 | g.5977621C= | CA1685250094 | PMS2 | c.*1808G= (n.*1808G=) c.2409G= (p.Lys803=) c.2304G= (p.Lys768=) c.1772G= (n.1772G=) c.*2006G= (n.*2006G=) c.2256G= (p.Lys752=) c.*1833G= (n.*1833G=) c.2214G= (p.Lys738=) c.*1811G= (n.*1811G=) c.*1999G= (n.*1999G=) c.*1669G= (n.*1669G=) n.3266G= c.2094G= (p.Lys698=) c.2007G= (p.Lys669=) c.1839G= (p.Lys613=) c.*1502G= (n.*1502G=) c.*730G= (n.*730G=) c.*1407G= (n.*1407G=) c.2445G= (p.Lys815=) c.*53G= (n.*53G=) c.2268G= (p.Lys756=) n.2525G= c.2035G= c.*1943G= (n.*1943G=) c.*1302G= (n.*1302G=) c.*1569G= (n.*1569G=) c.*350G= (n.*350G=) c.2040G= (p.Lys680=) c.*1864G= (n.*1864G=) c.*1915G= (n.*1915G=) c.1851G= (p.Lys617=) c.2244G= (p.Lys748=) n.4184G= c.*2312G= (n.*2312G=) c.2598G= (p.Lys866=) c.*1861G= (n.*1861G=) c.*1913G= (n.*1913G=) c.*2048G= (n.*2048G=) c.*1465G= (n.*1465G=) c.804-4079G= (n.804-4079G=) c.2412G= (p.Lys804=) c.1209G= (p.Lys403=) n.2494G= c.2406G= (p.Lys802=) c.1479G= (p.Lys493=) c.2457G= (p.Lys819=) c.2301G= (p.Lys767=) c.2103G= (p.Lys701=) n.2456G= | |
7 | g.5977621C>G | CA011460 | PMS2 | c.*1808G>C (n.*1808G>C) c.2409G>C (p.Lys803Asn) c.2304G>C (p.Lys768Asn) c.1772G>C (n.1772G>C) c.*2006G>C (n.*2006G>C) c.2256G>C (p.Lys752Asn) c.*1833G>C (n.*1833G>C) c.2214G>C (p.Lys738Asn) c.*1811G>C (n.*1811G>C) c.*1999G>C (n.*1999G>C) c.*1669G>C (n.*1669G>C) n.3266G>C c.2094G>C (p.Lys698Asn) c.2007G>C (p.Lys669Asn) c.1839G>C (p.Lys613Asn) c.*1502G>C (n.*1502G>C) c.*730G>C (n.*730G>C) c.*1407G>C (n.*1407G>C) c.2445G>C (p.Lys815Asn) c.*53G>C (n.*53G>C) c.2268G>C (p.Lys756Asn) n.2525G>C c.2035G>C c.*1943G>C (n.*1943G>C) c.*1302G>C (n.*1302G>C) c.*1569G>C (n.*1569G>C) c.*350G>C (n.*350G>C) c.2040G>C (p.Lys680Asn) c.*1864G>C (n.*1864G>C) c.*1915G>C (n.*1915G>C) c.1851G>C (p.Lys617Asn) c.2244G>C (p.Lys748Asn) n.4184G>C c.*2312G>C (n.*2312G>C) c.2598G>C (p.Lys866Asn) c.*1861G>C (n.*1861G>C) c.*1913G>C (n.*1913G>C) c.*2048G>C (n.*2048G>C) c.*1465G>C (n.*1465G>C) c.804-4079G>C (n.804-4079G>C) c.2412G>C (p.Lys804Asn) c.1209G>C (p.Lys403Asn) n.2494G>C c.2406G>C (p.Lys802Asn) c.1479G>C (p.Lys493Asn) c.2457G>C (p.Lys819Asn) c.2301G>C (p.Lys767Asn) c.2103G>C (p.Lys701Asn) n.2456G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.5977621C>T | CA453642330 | PMS2 | c.*1808G>A (n.*1808G>A) c.2409G>A (p.Lys803=) c.2304G>A (p.Lys768=) c.1772G>A (n.1772G>A) c.*2006G>A (n.*2006G>A) c.2256G>A (p.Lys752=) c.*1833G>A (n.*1833G>A) c.2214G>A (p.Lys738=) c.*1811G>A (n.*1811G>A) c.*1999G>A (n.*1999G>A) c.*1669G>A (n.*1669G>A) n.3266G>A c.2094G>A (p.Lys698=) c.2007G>A (p.Lys669=) c.1839G>A (p.Lys613=) c.*1502G>A (n.*1502G>A) c.*730G>A (n.*730G>A) c.*1407G>A (n.*1407G>A) c.2445G>A (p.Lys815=) c.*53G>A (n.*53G>A) c.2268G>A (p.Lys756=) n.2525G>A c.2035G>A c.*1943G>A (n.*1943G>A) c.*1302G>A (n.*1302G>A) c.*1569G>A (n.*1569G>A) c.*350G>A (n.*350G>A) c.2040G>A (p.Lys680=) c.*1864G>A (n.*1864G>A) c.*1915G>A (n.*1915G>A) c.1851G>A (p.Lys617=) c.2244G>A (p.Lys748=) n.4184G>A c.*2312G>A (n.*2312G>A) c.2598G>A (p.Lys866=) c.*1861G>A (n.*1861G>A) c.*1913G>A (n.*1913G>A) c.*2048G>A (n.*2048G>A) c.*1465G>A (n.*1465G>A) c.804-4079G>A (n.804-4079G>A) c.2412G>A (p.Lys804=) c.1209G>A (p.Lys403=) n.2494G>A c.2406G>A (p.Lys802=) c.1479G>A (p.Lys493=) c.2457G>A (p.Lys819=) c.2301G>A (p.Lys767=) c.2103G>A (p.Lys701=) n.2456G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.5977622T>A | CA366735652 | PMS2 | c.*1807A>T (n.*1807A>T) c.2408A>T (p.Lys803Met) c.2303A>T (p.Lys768Met) c.1771A>T (n.1771A>T) c.*2005A>T (n.*2005A>T) c.2255A>T (p.Lys752Met) c.*1832A>T (n.*1832A>T) c.2213A>T (p.Lys738Met) c.*1810A>T (n.*1810A>T) c.*1998A>T (n.*1998A>T) c.*1668A>T (n.*1668A>T) n.3265A>T c.2093A>T (p.Lys698Met) c.2006A>T (p.Lys669Met) c.1838A>T (p.Lys613Met) c.*1501A>T (n.*1501A>T) c.*729A>T (n.*729A>T) c.*1406A>T (n.*1406A>T) c.2444A>T (p.Lys815Met) c.*52A>T (n.*52A>T) c.2267A>T (p.Lys756Met) n.2524A>T c.2034A>T c.*1942A>T (n.*1942A>T) c.*1301A>T (n.*1301A>T) c.*1568A>T (n.*1568A>T) c.*349A>T (n.*349A>T) c.2039A>T (p.Lys680Met) c.*1863A>T (n.*1863A>T) c.*1914A>T (n.*1914A>T) c.1850A>T (p.Lys617Met) c.2243A>T (p.Lys748Met) n.4183A>T c.*2311A>T (n.*2311A>T) c.2597A>T (p.Lys866Met) c.*1860A>T (n.*1860A>T) c.*1912A>T (n.*1912A>T) c.*2047A>T (n.*2047A>T) c.*1464A>T (n.*1464A>T) c.804-4080A>T (n.804-4080A>T) c.2411A>T (p.Lys804Met) c.1208A>T (p.Lys403Met) n.2493A>T c.2405A>T (p.Lys802Met) c.1478A>T (p.Lys493Met) c.2456A>T (p.Lys819Met) c.2300A>T (p.Lys767Met) c.2102A>T (p.Lys701Met) n.2455A>T | |
7 | g.5977622T>C | CA366735649 | PMS2 | c.*1807A>G (n.*1807A>G) c.2408A>G (p.Lys803Arg) c.2303A>G (p.Lys768Arg) c.1771A>G (n.1771A>G) c.*2005A>G (n.*2005A>G) c.2255A>G (p.Lys752Arg) c.*1832A>G (n.*1832A>G) c.2213A>G (p.Lys738Arg) c.*1810A>G (n.*1810A>G) c.*1998A>G (n.*1998A>G) c.*1668A>G (n.*1668A>G) n.3265A>G c.2093A>G (p.Lys698Arg) c.2006A>G (p.Lys669Arg) c.1838A>G (p.Lys613Arg) c.*1501A>G (n.*1501A>G) c.*729A>G (n.*729A>G) c.*1406A>G (n.*1406A>G) c.2444A>G (p.Lys815Arg) c.*52A>G (n.*52A>G) c.2267A>G (p.Lys756Arg) n.2524A>G c.2034A>G c.*1942A>G (n.*1942A>G) c.*1301A>G (n.*1301A>G) c.*1568A>G (n.*1568A>G) c.*349A>G (n.*349A>G) c.2039A>G (p.Lys680Arg) c.*1863A>G (n.*1863A>G) c.*1914A>G (n.*1914A>G) c.1850A>G (p.Lys617Arg) c.2243A>G (p.Lys748Arg) n.4183A>G c.*2311A>G (n.*2311A>G) c.2597A>G (p.Lys866Arg) c.*1860A>G (n.*1860A>G) c.*1912A>G (n.*1912A>G) c.*2047A>G (n.*2047A>G) c.*1464A>G (n.*1464A>G) c.804-4080A>G (n.804-4080A>G) c.2411A>G (p.Lys804Arg) c.1208A>G (p.Lys403Arg) n.2493A>G c.2405A>G (p.Lys802Arg) c.1478A>G (p.Lys493Arg) c.2456A>G (p.Lys819Arg) c.2300A>G (p.Lys767Arg) c.2102A>G (p.Lys701Arg) n.2455A>G | ClinVar dbSNP |
7 | g.5977622T>G | CA366735650 | PMS2 | c.*1807A>C (n.*1807A>C) c.2408A>C (p.Lys803Thr) c.2303A>C (p.Lys768Thr) c.1771A>C (n.1771A>C) c.*2005A>C (n.*2005A>C) c.2255A>C (p.Lys752Thr) c.*1832A>C (n.*1832A>C) c.2213A>C (p.Lys738Thr) c.*1810A>C (n.*1810A>C) c.*1998A>C (n.*1998A>C) c.*1668A>C (n.*1668A>C) n.3265A>C c.2093A>C (p.Lys698Thr) c.2006A>C (p.Lys669Thr) c.1838A>C (p.Lys613Thr) c.*1501A>C (n.*1501A>C) c.*729A>C (n.*729A>C) c.*1406A>C (n.*1406A>C) c.2444A>C (p.Lys815Thr) c.*52A>C (n.*52A>C) c.2267A>C (p.Lys756Thr) n.2524A>C c.2034A>C c.*1942A>C (n.*1942A>C) c.*1301A>C (n.*1301A>C) c.*1568A>C (n.*1568A>C) c.*349A>C (n.*349A>C) c.2039A>C (p.Lys680Thr) c.*1863A>C (n.*1863A>C) c.*1914A>C (n.*1914A>C) c.1850A>C (p.Lys617Thr) c.2243A>C (p.Lys748Thr) n.4183A>C c.*2311A>C (n.*2311A>C) c.2597A>C (p.Lys866Thr) c.*1860A>C (n.*1860A>C) c.*1912A>C (n.*1912A>C) c.*2047A>C (n.*2047A>C) c.*1464A>C (n.*1464A>C) c.804-4080A>C (n.804-4080A>C) c.2411A>C (p.Lys804Thr) c.1208A>C (p.Lys403Thr) n.2493A>C c.2405A>C (p.Lys802Thr) c.1478A>C (p.Lys493Thr) c.2456A>C (p.Lys819Thr) c.2300A>C (p.Lys767Thr) c.2102A>C (p.Lys701Thr) n.2455A>C | |
7 | g.5977623del | CA2681676223 | PMS2 | c.*1807del (n.*1807del) c.2408del (p.Lys803SerfsTer13) c.2303del (p.Lys768SerfsTer13) c.1771del (n.1771del) c.*2005del (n.*2005del) c.2255del (p.Lys752SerfsTer13) c.*1832del (n.*1832del) c.2213del (p.Lys738SerfsTer13) c.*1810del (n.*1810del) c.*1998del (n.*1998del) c.*1668del (n.*1668del) n.3265del c.2093del (p.Lys698SerfsTer13) c.2006del (p.Lys669SerfsTer13) c.1838del (p.Lys613SerfsTer13) c.*1501del (n.*1501del) c.*729del (n.*729del) c.*1406del (n.*1406del) c.2444del (p.Lys815SerfsTer13) c.*52del (n.*52del) c.2267del (p.Lys756SerfsTer13) n.2524del c.2034del c.*1942del (n.*1942del) c.*1301del (n.*1301del) c.*1568del (n.*1568del) c.*349del (n.*349del) c.2039del (p.Lys680SerfsTer13) c.*1863del (n.*1863del) c.*1914del (n.*1914del) c.1850del (p.Lys617SerfsTer13) c.2243del (p.Lys748SerfsTer13) n.4183del c.*2311del (n.*2311del) c.2597del (p.Lys866SerfsTer13) c.*1860del (n.*1860del) c.*1912del (n.*1912del) c.*2047del (n.*2047del) c.*1464del (n.*1464del) c.804-4080del (n.804-4080del) c.2411del (p.Lys804SerfsTer13) c.1208del (p.Lys403SerfsTer13) n.2493del c.2405del (p.Lys802SerfsTer13) c.1478del (p.Lys493SerfsTer13) c.2456del (p.Lys819SerfsTer13) c.2300del (p.Lys767SerfsTer13) c.2102del (p.Lys701SerfsTer13) n.2455del | gnomAD v4 |
7 | g.5977623T>A | CA366735654 | PMS2 | c.*1806A>T (n.*1806A>T) c.2407A>T (p.Lys803Ter) c.2302A>T (p.Lys768Ter) c.1770A>T (n.1770A>T) c.*2004A>T (n.*2004A>T) c.2254A>T (p.Lys752Ter) c.*1831A>T (n.*1831A>T) c.2212A>T (p.Lys738Ter) c.*1809A>T (n.*1809A>T) c.*1997A>T (n.*1997A>T) c.*1667A>T (n.*1667A>T) n.3264A>T c.2092A>T (p.Lys698Ter) c.2005A>T (p.Lys669Ter) c.1837A>T (p.Lys613Ter) c.*1500A>T (n.*1500A>T) c.*728A>T (n.*728A>T) c.*1405A>T (n.*1405A>T) c.2443A>T (p.Lys815Ter) c.*51A>T (n.*51A>T) c.2266A>T (p.Lys756Ter) n.2523A>T c.2033A>T c.*1941A>T (n.*1941A>T) c.*1300A>T (n.*1300A>T) c.*1567A>T (n.*1567A>T) c.*348A>T (n.*348A>T) c.2038A>T (p.Lys680Ter) c.*1862A>T (n.*1862A>T) c.*1913A>T (n.*1913A>T) c.1849A>T (p.Lys617Ter) c.2242A>T (p.Lys748Ter) n.4182A>T c.*2310A>T (n.*2310A>T) c.2596A>T (p.Lys866Ter) c.*1859A>T (n.*1859A>T) c.*1911A>T (n.*1911A>T) c.*2046A>T (n.*2046A>T) c.*1463A>T (n.*1463A>T) c.804-4081A>T (n.804-4081A>T) c.2410A>T (p.Lys804Ter) c.1207A>T (p.Lys403Ter) n.2492A>T c.2404A>T (p.Lys802Ter) c.1477A>T (p.Lys493Ter) c.2455A>T (p.Lys819Ter) c.2299A>T (p.Lys767Ter) c.2101A>T (p.Lys701Ter) n.2454A>T | ClinVar dbSNP |
7 | g.5977623T>C | CA366735656 | PMS2 | c.*1806A>G (n.*1806A>G) c.2407A>G (p.Lys803Glu) c.2302A>G (p.Lys768Glu) c.1770A>G (n.1770A>G) c.*2004A>G (n.*2004A>G) c.2254A>G (p.Lys752Glu) c.*1831A>G (n.*1831A>G) c.2212A>G (p.Lys738Glu) c.*1809A>G (n.*1809A>G) c.*1997A>G (n.*1997A>G) c.*1667A>G (n.*1667A>G) n.3264A>G c.2092A>G (p.Lys698Glu) c.2005A>G (p.Lys669Glu) c.1837A>G (p.Lys613Glu) c.*1500A>G (n.*1500A>G) c.*728A>G (n.*728A>G) c.*1405A>G (n.*1405A>G) c.2443A>G (p.Lys815Glu) c.*51A>G (n.*51A>G) c.2266A>G (p.Lys756Glu) n.2523A>G c.2033A>G c.*1941A>G (n.*1941A>G) c.*1300A>G (n.*1300A>G) c.*1567A>G (n.*1567A>G) c.*348A>G (n.*348A>G) c.2038A>G (p.Lys680Glu) c.*1862A>G (n.*1862A>G) c.*1913A>G (n.*1913A>G) c.1849A>G (p.Lys617Glu) c.2242A>G (p.Lys748Glu) n.4182A>G c.*2310A>G (n.*2310A>G) c.2596A>G (p.Lys866Glu) c.*1859A>G (n.*1859A>G) c.*1911A>G (n.*1911A>G) c.*2046A>G (n.*2046A>G) c.*1463A>G (n.*1463A>G) c.804-4081A>G (n.804-4081A>G) c.2410A>G (p.Lys804Glu) c.1207A>G (p.Lys403Glu) n.2492A>G c.2404A>G (p.Lys802Glu) c.1477A>G (p.Lys493Glu) c.2455A>G (p.Lys819Glu) c.2299A>G (p.Lys767Glu) c.2101A>G (p.Lys701Glu) n.2454A>G | |
7 | g.5977623T>G | CA366735657 | PMS2 | c.*1806A>C (n.*1806A>C) c.2407A>C (p.Lys803Gln) c.2302A>C (p.Lys768Gln) c.1770A>C (n.1770A>C) c.*2004A>C (n.*2004A>C) c.2254A>C (p.Lys752Gln) c.*1831A>C (n.*1831A>C) c.2212A>C (p.Lys738Gln) c.*1809A>C (n.*1809A>C) c.*1997A>C (n.*1997A>C) c.*1667A>C (n.*1667A>C) n.3264A>C c.2092A>C (p.Lys698Gln) c.2005A>C (p.Lys669Gln) c.1837A>C (p.Lys613Gln) c.*1500A>C (n.*1500A>C) c.*728A>C (n.*728A>C) c.*1405A>C (n.*1405A>C) c.2443A>C (p.Lys815Gln) c.*51A>C (n.*51A>C) c.2266A>C (p.Lys756Gln) n.2523A>C c.2033A>C c.*1941A>C (n.*1941A>C) c.*1300A>C (n.*1300A>C) c.*1567A>C (n.*1567A>C) c.*348A>C (n.*348A>C) c.2038A>C (p.Lys680Gln) c.*1862A>C (n.*1862A>C) c.*1913A>C (n.*1913A>C) c.1849A>C (p.Lys617Gln) c.2242A>C (p.Lys748Gln) n.4182A>C c.*2310A>C (n.*2310A>C) c.2596A>C (p.Lys866Gln) c.*1859A>C (n.*1859A>C) c.*1911A>C (n.*1911A>C) c.*2046A>C (n.*2046A>C) c.*1463A>C (n.*1463A>C) c.804-4081A>C (n.804-4081A>C) c.2410A>C (p.Lys804Gln) c.1207A>C (p.Lys403Gln) n.2492A>C c.2404A>C (p.Lys802Gln) c.1477A>C (p.Lys493Gln) c.2455A>C (p.Lys819Gln) c.2299A>C (p.Lys767Gln) c.2101A>C (p.Lys701Gln) n.2454A>C | |
7 | g.5977624G>A | CA453642332 | PMS2 | c.*1805C>T (n.*1805C>T) c.2406C>T (p.Val802=) c.2301C>T (p.Val767=) c.1769C>T (n.1769C>T) c.*2003C>T (n.*2003C>T) c.2253C>T (p.Val751=) c.*1830C>T (n.*1830C>T) c.2211C>T (p.Val737=) c.*1808C>T (n.*1808C>T) c.*1996C>T (n.*1996C>T) c.*1666C>T (n.*1666C>T) n.3263C>T c.2091C>T (p.Val697=) c.2004C>T (p.Val668=) c.1836C>T (p.Val612=) c.*1499C>T (n.*1499C>T) c.*727C>T (n.*727C>T) c.*1404C>T (n.*1404C>T) c.2442C>T (p.Val814=) c.*50C>T (n.*50C>T) c.2265C>T (p.Val755=) n.2522C>T c.2032C>T c.*1940C>T (n.*1940C>T) c.*1299C>T (n.*1299C>T) c.*1566C>T (n.*1566C>T) c.*347C>T (n.*347C>T) c.2037C>T (p.Val679=) c.*1861C>T (n.*1861C>T) c.*1912C>T (n.*1912C>T) c.1848C>T (p.Val616=) c.2241C>T (p.Val747=) n.4181C>T c.*2309C>T (n.*2309C>T) c.2595C>T (p.Val865=) c.*1858C>T (n.*1858C>T) c.*1910C>T (n.*1910C>T) c.*2045C>T (n.*2045C>T) c.*1462C>T (n.*1462C>T) c.804-4082C>T (n.804-4082C>T) c.2409C>T (p.Val803=) c.1206C>T (p.Val402=) n.2491C>T c.2403C>T (p.Val801=) c.1476C>T (p.Val492=) c.2454C>T (p.Val818=) c.2298C>T (p.Val766=) c.2100C>T (p.Val700=) n.2453C>T | |
7 | g.5977624G>C | CA453642333 | PMS2 | c.*1805C>G (n.*1805C>G) c.2406C>G (p.Val802=) c.2301C>G (p.Val767=) c.1769C>G (n.1769C>G) c.*2003C>G (n.*2003C>G) c.2253C>G (p.Val751=) c.*1830C>G (n.*1830C>G) c.2211C>G (p.Val737=) c.*1808C>G (n.*1808C>G) c.*1996C>G (n.*1996C>G) c.*1666C>G (n.*1666C>G) n.3263C>G c.2091C>G (p.Val697=) c.2004C>G (p.Val668=) c.1836C>G (p.Val612=) c.*1499C>G (n.*1499C>G) c.*727C>G (n.*727C>G) c.*1404C>G (n.*1404C>G) c.2442C>G (p.Val814=) c.*50C>G (n.*50C>G) c.2265C>G (p.Val755=) n.2522C>G c.2032C>G c.*1940C>G (n.*1940C>G) c.*1299C>G (n.*1299C>G) c.*1566C>G (n.*1566C>G) c.*347C>G (n.*347C>G) c.2037C>G (p.Val679=) c.*1861C>G (n.*1861C>G) c.*1912C>G (n.*1912C>G) c.1848C>G (p.Val616=) c.2241C>G (p.Val747=) n.4181C>G c.*2309C>G (n.*2309C>G) c.2595C>G (p.Val865=) c.*1858C>G (n.*1858C>G) c.*1910C>G (n.*1910C>G) c.*2045C>G (n.*2045C>G) c.*1462C>G (n.*1462C>G) c.804-4082C>G (n.804-4082C>G) c.2409C>G (p.Val803=) c.1206C>G (p.Val402=) n.2491C>G c.2403C>G (p.Val801=) c.1476C>G (p.Val492=) c.2454C>G (p.Val818=) c.2298C>G (p.Val766=) c.2100C>G (p.Val700=) n.2453C>G | ClinVar dbSNP |
7 | g.5977624G>T | CA453642335 | PMS2 | c.*1805C>A (n.*1805C>A) c.2406C>A (p.Val802=) c.2301C>A (p.Val767=) c.1769C>A (n.1769C>A) c.*2003C>A (n.*2003C>A) c.2253C>A (p.Val751=) c.*1830C>A (n.*1830C>A) c.2211C>A (p.Val737=) c.*1808C>A (n.*1808C>A) c.*1996C>A (n.*1996C>A) c.*1666C>A (n.*1666C>A) n.3263C>A c.2091C>A (p.Val697=) c.2004C>A (p.Val668=) c.1836C>A (p.Val612=) c.*1499C>A (n.*1499C>A) c.*727C>A (n.*727C>A) c.*1404C>A (n.*1404C>A) c.2442C>A (p.Val814=) c.*50C>A (n.*50C>A) c.2265C>A (p.Val755=) n.2522C>A c.2032C>A c.*1940C>A (n.*1940C>A) c.*1299C>A (n.*1299C>A) c.*1566C>A (n.*1566C>A) c.*347C>A (n.*347C>A) c.2037C>A (p.Val679=) c.*1861C>A (n.*1861C>A) c.*1912C>A (n.*1912C>A) c.1848C>A (p.Val616=) c.2241C>A (p.Val747=) n.4181C>A c.*2309C>A (n.*2309C>A) c.2595C>A (p.Val865=) c.*1858C>A (n.*1858C>A) c.*1910C>A (n.*1910C>A) c.*2045C>A (n.*2045C>A) c.*1462C>A (n.*1462C>A) c.804-4082C>A (n.804-4082C>A) c.2409C>A (p.Val803=) c.1206C>A (p.Val402=) n.2491C>A c.2403C>A (p.Val801=) c.1476C>A (p.Val492=) c.2454C>A (p.Val818=) c.2298C>A (p.Val766=) c.2100C>A (p.Val700=) n.2453C>A | ClinVar dbSNP gnomAD v4 |