Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.5973306_5981691delCA2697553813PMS2c.*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
7g.5973306_5982991delCA2581463459PMS2c.*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
7g.5976004_5977882delCA331753PMS2c.*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
7g.5976806_5977856delCA331754PMS2c.*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
7g.5977077_5977676delinsCGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGTATGAACTTGGCTCACTGCAAGTTCCGCCTTCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCCCGACACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGCTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGAACTCGTGATCCGCCCGCCTCAGCTTCCCAAAGTGCTGGGATTAGAGGCTTGAGCCACCATGCCCGGCCAAGAATACTGCTTAACAGAGGTAACAAAAGAGCAATAATTATGAGTTCAAGGTCACAGAGAACGCAGACGACACAGATGCTCAGCTACGACGCTGCACGTAGCTCTCTGTGTAAAATGACCCCTGGCAATCACAAAGGCGTTTACAACCTTGACCAAATCAGGAGCTGGGCTGAGACCTTCCTCGACTGCAAGCTTGAGCAGCTGAGCTGACAGCCAGGCTTTCTTTACTTACCGACTTCCGGCAGGCTCTGGAGGCAAACATCTGCTTGACTCGGGAAGGCCGGCACATGACCCCAGGGCTGTCGCTCAGCATGAAGATCACA1685249028PMS2c.*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
7g.5977079_5977677delCA891842805PMS2c.*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
7g.5977586_5980033delCA2499218940PMS2c.*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
7g.5977586_5977758delCA2499218941PMS2c.*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
7g.5977611C>ACA366735609PMS2c.*1818G>T (n.*1818G>T)
c.2419G>T (p.Ala807Ser)
c.2314G>T (p.Ala772Ser)
c.1782G>T (n.1782G>T)
c.*2016G>T (n.*2016G>T)
c.2266G>T (p.Ala756Ser)
c.*1843G>T (n.*1843G>T)
c.2224G>T (p.Ala742Ser)
c.*1821G>T (n.*1821G>T)
c.*2009G>T (n.*2009G>T)
c.*1679G>T (n.*1679G>T)
n.3276G>T
c.2104G>T (p.Ala702Ser)
c.2017G>T (p.Ala673Ser)
c.1849G>T (p.Ala617Ser)
c.*1512G>T (n.*1512G>T)
c.*740G>T (n.*740G>T)
c.*1417G>T (n.*1417G>T)
c.2455G>T (p.Ala819Ser)
c.*63G>T (n.*63G>T)
c.2278G>T (p.Ala760Ser)
n.2535G>T
c.2045G>T
c.*1953G>T (n.*1953G>T)
c.*1312G>T (n.*1312G>T)
c.*1579G>T (n.*1579G>T)
c.*360G>T (n.*360G>T)
c.2050G>T (p.Ala684Ser)
c.*1874G>T (n.*1874G>T)
c.*1925G>T (n.*1925G>T)
c.1861G>T (p.Ala621Ser)
c.2254G>T (p.Ala752Ser)
n.4194G>T
c.*2322G>T (n.*2322G>T)
c.2608G>T (p.Ala870Ser)
c.*1871G>T (n.*1871G>T)
c.*1923G>T (n.*1923G>T)
c.*2058G>T (n.*2058G>T)
c.*1475G>T (n.*1475G>T)
c.804-4069G>T (n.804-4069G>T)
c.2422G>T (p.Ala808Ser)
c.1219G>T (p.Ala407Ser)
n.2504G>T
c.2416G>T (p.Ala806Ser)
c.1489G>T (p.Ala497Ser)
c.2467G>T (p.Ala823Ser)
c.2311G>T (p.Ala771Ser)
c.2113G>T (p.Ala705Ser)
n.2466G>T
7g.5977611C=CA1685250055PMS2c.*1818G= (n.*1818G=)
c.2419G= (p.Ala807=)
c.2314G= (p.Ala772=)
c.1782G= (n.1782G=)
c.*2016G= (n.*2016G=)
c.2266G= (p.Ala756=)
c.*1843G= (n.*1843G=)
c.2224G= (p.Ala742=)
c.*1821G= (n.*1821G=)
c.*2009G= (n.*2009G=)
c.*1679G= (n.*1679G=)
n.3276G=
c.2104G= (p.Ala702=)
c.2017G= (p.Ala673=)
c.1849G= (p.Ala617=)
c.*1512G= (n.*1512G=)
c.*740G= (n.*740G=)
c.*1417G= (n.*1417G=)
c.2455G= (p.Ala819=)
c.*63G= (n.*63G=)
c.2278G= (p.Ala760=)
n.2535G=
c.2045G=
c.*1953G= (n.*1953G=)
c.*1312G= (n.*1312G=)
c.*1579G= (n.*1579G=)
c.*360G= (n.*360G=)
c.2050G= (p.Ala684=)
c.*1874G= (n.*1874G=)
c.*1925G= (n.*1925G=)
c.1861G= (p.Ala621=)
c.2254G= (p.Ala752=)
n.4194G=
c.*2322G= (n.*2322G=)
c.2608G= (p.Ala870=)
c.*1871G= (n.*1871G=)
c.*1923G= (n.*1923G=)
c.*2058G= (n.*2058G=)
c.*1475G= (n.*1475G=)
c.804-4069G= (n.804-4069G=)
c.2422G= (p.Ala808=)
c.1219G= (p.Ala407=)
n.2504G=
c.2416G= (p.Ala806=)
c.1489G= (p.Ala497=)
c.2467G= (p.Ala823=)
c.2311G= (p.Ala771=)
c.2113G= (p.Ala705=)
n.2466G=
7g.5977611C>GCA366735606PMS2c.*1818G>C (n.*1818G>C)
c.2419G>C (p.Ala807Pro)
c.2314G>C (p.Ala772Pro)
c.1782G>C (n.1782G>C)
c.*2016G>C (n.*2016G>C)
c.2266G>C (p.Ala756Pro)
c.*1843G>C (n.*1843G>C)
c.2224G>C (p.Ala742Pro)
c.*1821G>C (n.*1821G>C)
c.*2009G>C (n.*2009G>C)
c.*1679G>C (n.*1679G>C)
n.3276G>C
c.2104G>C (p.Ala702Pro)
c.2017G>C (p.Ala673Pro)
c.1849G>C (p.Ala617Pro)
c.*1512G>C (n.*1512G>C)
c.*740G>C (n.*740G>C)
c.*1417G>C (n.*1417G>C)
c.2455G>C (p.Ala819Pro)
c.*63G>C (n.*63G>C)
c.2278G>C (p.Ala760Pro)
n.2535G>C
c.2045G>C
c.*1953G>C (n.*1953G>C)
c.*1312G>C (n.*1312G>C)
c.*1579G>C (n.*1579G>C)
c.*360G>C (n.*360G>C)
c.2050G>C (p.Ala684Pro)
c.*1874G>C (n.*1874G>C)
c.*1925G>C (n.*1925G>C)
c.1861G>C (p.Ala621Pro)
c.2254G>C (p.Ala752Pro)
n.4194G>C
c.*2322G>C (n.*2322G>C)
c.2608G>C (p.Ala870Pro)
c.*1871G>C (n.*1871G>C)
c.*1923G>C (n.*1923G>C)
c.*2058G>C (n.*2058G>C)
c.*1475G>C (n.*1475G>C)
c.804-4069G>C (n.804-4069G>C)
c.2422G>C (p.Ala808Pro)
c.1219G>C (p.Ala407Pro)
n.2504G>C
c.2416G>C (p.Ala806Pro)
c.1489G>C (p.Ala497Pro)
c.2467G>C (p.Ala823Pro)
c.2311G>C (p.Ala771Pro)
c.2113G>C (p.Ala705Pro)
n.2466G>C
ClinVar dbSNP gnomAD v4
7g.5977611C>TCA366735607PMS2c.*1818G>A (n.*1818G>A)
c.2419G>A (p.Ala807Thr)
c.2314G>A (p.Ala772Thr)
c.1782G>A (n.1782G>A)
c.*2016G>A (n.*2016G>A)
c.2266G>A (p.Ala756Thr)
c.*1843G>A (n.*1843G>A)
c.2224G>A (p.Ala742Thr)
c.*1821G>A (n.*1821G>A)
c.*2009G>A (n.*2009G>A)
c.*1679G>A (n.*1679G>A)
n.3276G>A
c.2104G>A (p.Ala702Thr)
c.2017G>A (p.Ala673Thr)
c.1849G>A (p.Ala617Thr)
c.*1512G>A (n.*1512G>A)
c.*740G>A (n.*740G>A)
c.*1417G>A (n.*1417G>A)
c.2455G>A (p.Ala819Thr)
c.*63G>A (n.*63G>A)
c.2278G>A (p.Ala760Thr)
n.2535G>A
c.2045G>A
c.*1953G>A (n.*1953G>A)
c.*1312G>A (n.*1312G>A)
c.*1579G>A (n.*1579G>A)
c.*360G>A (n.*360G>A)
c.2050G>A (p.Ala684Thr)
c.*1874G>A (n.*1874G>A)
c.*1925G>A (n.*1925G>A)
c.1861G>A (p.Ala621Thr)
c.2254G>A (p.Ala752Thr)
n.4194G>A
c.*2322G>A (n.*2322G>A)
c.2608G>A (p.Ala870Thr)
c.*1871G>A (n.*1871G>A)
c.*1923G>A (n.*1923G>A)
c.*2058G>A (n.*2058G>A)
c.*1475G>A (n.*1475G>A)
c.804-4069G>A (n.804-4069G>A)
c.2422G>A (p.Ala808Thr)
c.1219G>A (p.Ala407Thr)
n.2504G>A
c.2416G>A (p.Ala806Thr)
c.1489G>A (p.Ala497Thr)
c.2467G>A (p.Ala823Thr)
c.2311G>A (p.Ala771Thr)
c.2113G>A (p.Ala705Thr)
n.2466G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.5977612A>CCA366735610PMS2c.*1817T>G (n.*1817T>G)
c.2418T>G (p.Phe806Leu)
c.2313T>G (p.Phe771Leu)
c.1781T>G (n.1781T>G)
c.*2015T>G (n.*2015T>G)
c.2265T>G (p.Phe755Leu)
c.*1842T>G (n.*1842T>G)
c.2223T>G (p.Phe741Leu)
c.*1820T>G (n.*1820T>G)
c.*2008T>G (n.*2008T>G)
c.*1678T>G (n.*1678T>G)
n.3275T>G
c.2103T>G (p.Phe701Leu)
c.2016T>G (p.Phe672Leu)
c.1848T>G (p.Phe616Leu)
c.*1511T>G (n.*1511T>G)
c.*739T>G (n.*739T>G)
c.*1416T>G (n.*1416T>G)
c.2454T>G (p.Phe818Leu)
c.*62T>G (n.*62T>G)
c.2277T>G (p.Phe759Leu)
n.2534T>G
c.2044T>G
c.*1952T>G (n.*1952T>G)
c.*1311T>G (n.*1311T>G)
c.*1578T>G (n.*1578T>G)
c.*359T>G (n.*359T>G)
c.2049T>G (p.Phe683Leu)
c.*1873T>G (n.*1873T>G)
c.*1924T>G (n.*1924T>G)
c.1860T>G (p.Phe620Leu)
c.2253T>G (p.Phe751Leu)
n.4193T>G
c.*2321T>G (n.*2321T>G)
c.2607T>G (p.Phe869Leu)
c.*1870T>G (n.*1870T>G)
c.*1922T>G (n.*1922T>G)
c.*2057T>G (n.*2057T>G)
c.*1474T>G (n.*1474T>G)
c.804-4070T>G (n.804-4070T>G)
c.2421T>G (p.Phe807Leu)
c.1218T>G (p.Phe406Leu)
n.2503T>G
c.2415T>G (p.Phe805Leu)
c.1488T>G (p.Phe496Leu)
c.2466T>G (p.Phe822Leu)
c.2310T>G (p.Phe770Leu)
c.2112T>G (p.Phe704Leu)
n.2465T>G
7g.5977612A>GCA453642324PMS2c.*1817T>C (n.*1817T>C)
c.2418T>C (p.Phe806=)
c.2313T>C (p.Phe771=)
c.1781T>C (n.1781T>C)
c.*2015T>C (n.*2015T>C)
c.2265T>C (p.Phe755=)
c.*1842T>C (n.*1842T>C)
c.2223T>C (p.Phe741=)
c.*1820T>C (n.*1820T>C)
c.*2008T>C (n.*2008T>C)
c.*1678T>C (n.*1678T>C)
n.3275T>C
c.2103T>C (p.Phe701=)
c.2016T>C (p.Phe672=)
c.1848T>C (p.Phe616=)
c.*1511T>C (n.*1511T>C)
c.*739T>C (n.*739T>C)
c.*1416T>C (n.*1416T>C)
c.2454T>C (p.Phe818=)
c.*62T>C (n.*62T>C)
c.2277T>C (p.Phe759=)
n.2534T>C
c.2044T>C
c.*1952T>C (n.*1952T>C)
c.*1311T>C (n.*1311T>C)
c.*1578T>C (n.*1578T>C)
c.*359T>C (n.*359T>C)
c.2049T>C (p.Phe683=)
c.*1873T>C (n.*1873T>C)
c.*1924T>C (n.*1924T>C)
c.1860T>C (p.Phe620=)
c.2253T>C (p.Phe751=)
n.4193T>C
c.*2321T>C (n.*2321T>C)
c.2607T>C (p.Phe869=)
c.*1870T>C (n.*1870T>C)
c.*1922T>C (n.*1922T>C)
c.*2057T>C (n.*2057T>C)
c.*1474T>C (n.*1474T>C)
c.804-4070T>C (n.804-4070T>C)
c.2421T>C (p.Phe807=)
c.1218T>C (p.Phe406=)
n.2503T>C
c.2415T>C (p.Phe805=)
c.1488T>C (p.Phe496=)
c.2466T>C (p.Phe822=)
c.2310T>C (p.Phe770=)
c.2112T>C (p.Phe704=)
n.2465T>C
7g.5977612A>TCA366735612PMS2c.*1817T>A (n.*1817T>A)
c.2418T>A (p.Phe806Leu)
c.2313T>A (p.Phe771Leu)
c.1781T>A (n.1781T>A)
c.*2015T>A (n.*2015T>A)
c.2265T>A (p.Phe755Leu)
c.*1842T>A (n.*1842T>A)
c.2223T>A (p.Phe741Leu)
c.*1820T>A (n.*1820T>A)
c.*2008T>A (n.*2008T>A)
c.*1678T>A (n.*1678T>A)
n.3275T>A
c.2103T>A (p.Phe701Leu)
c.2016T>A (p.Phe672Leu)
c.1848T>A (p.Phe616Leu)
c.*1511T>A (n.*1511T>A)
c.*739T>A (n.*739T>A)
c.*1416T>A (n.*1416T>A)
c.2454T>A (p.Phe818Leu)
c.*62T>A (n.*62T>A)
c.2277T>A (p.Phe759Leu)
n.2534T>A
c.2044T>A
c.*1952T>A (n.*1952T>A)
c.*1311T>A (n.*1311T>A)
c.*1578T>A (n.*1578T>A)
c.*359T>A (n.*359T>A)
c.2049T>A (p.Phe683Leu)
c.*1873T>A (n.*1873T>A)
c.*1924T>A (n.*1924T>A)
c.1860T>A (p.Phe620Leu)
c.2253T>A (p.Phe751Leu)
n.4193T>A
c.*2321T>A (n.*2321T>A)
c.2607T>A (p.Phe869Leu)
c.*1870T>A (n.*1870T>A)
c.*1922T>A (n.*1922T>A)
c.*2057T>A (n.*2057T>A)
c.*1474T>A (n.*1474T>A)
c.804-4070T>A (n.804-4070T>A)
c.2421T>A (p.Phe807Leu)
c.1218T>A (p.Phe406Leu)
n.2503T>A
c.2415T>A (p.Phe805Leu)
c.1488T>A (p.Phe496Leu)
c.2466T>A (p.Phe822Leu)
c.2310T>A (p.Phe770Leu)
c.2112T>A (p.Phe704Leu)
n.2465T>A
dbSNP
7g.5977614delCA2697553818PMS2c.*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
7g.5977613A>CCA366735614PMS2c.*1816T>G (n.*1816T>G)
c.2417T>G (p.Phe806Cys)
c.2312T>G (p.Phe771Cys)
c.1780T>G (n.1780T>G)
c.*2014T>G (n.*2014T>G)
c.2264T>G (p.Phe755Cys)
c.*1841T>G (n.*1841T>G)
c.2222T>G (p.Phe741Cys)
c.*1819T>G (n.*1819T>G)
c.*2007T>G (n.*2007T>G)
c.*1677T>G (n.*1677T>G)
n.3274T>G
c.2102T>G (p.Phe701Cys)
c.2015T>G (p.Phe672Cys)
c.1847T>G (p.Phe616Cys)
c.*1510T>G (n.*1510T>G)
c.*738T>G (n.*738T>G)
c.*1415T>G (n.*1415T>G)
c.2453T>G (p.Phe818Cys)
c.*61T>G (n.*61T>G)
c.2276T>G (p.Phe759Cys)
n.2533T>G
c.2043T>G
c.*1951T>G (n.*1951T>G)
c.*1310T>G (n.*1310T>G)
c.*1577T>G (n.*1577T>G)
c.*358T>G (n.*358T>G)
c.2048T>G (p.Phe683Cys)
c.*1872T>G (n.*1872T>G)
c.*1923T>G (n.*1923T>G)
c.1859T>G (p.Phe620Cys)
c.2252T>G (p.Phe751Cys)
n.4192T>G
c.*2320T>G (n.*2320T>G)
c.2606T>G (p.Phe869Cys)
c.*1869T>G (n.*1869T>G)
c.*1921T>G (n.*1921T>G)
c.*2056T>G (n.*2056T>G)
c.*1473T>G (n.*1473T>G)
c.804-4071T>G (n.804-4071T>G)
c.2420T>G (p.Phe807Cys)
c.1217T>G (p.Phe406Cys)
n.2502T>G
c.2414T>G (p.Phe805Cys)
c.1487T>G (p.Phe496Cys)
c.2465T>G (p.Phe822Cys)
c.2309T>G (p.Phe770Cys)
c.2111T>G (p.Phe704Cys)
n.2464T>G
7g.5977613A>GCA366735615PMS2c.*1816T>C (n.*1816T>C)
c.2417T>C (p.Phe806Ser)
c.2312T>C (p.Phe771Ser)
c.1780T>C (n.1780T>C)
c.*2014T>C (n.*2014T>C)
c.2264T>C (p.Phe755Ser)
c.*1841T>C (n.*1841T>C)
c.2222T>C (p.Phe741Ser)
c.*1819T>C (n.*1819T>C)
c.*2007T>C (n.*2007T>C)
c.*1677T>C (n.*1677T>C)
n.3274T>C
c.2102T>C (p.Phe701Ser)
c.2015T>C (p.Phe672Ser)
c.1847T>C (p.Phe616Ser)
c.*1510T>C (n.*1510T>C)
c.*738T>C (n.*738T>C)
c.*1415T>C (n.*1415T>C)
c.2453T>C (p.Phe818Ser)
c.*61T>C (n.*61T>C)
c.2276T>C (p.Phe759Ser)
n.2533T>C
c.2043T>C
c.*1951T>C (n.*1951T>C)
c.*1310T>C (n.*1310T>C)
c.*1577T>C (n.*1577T>C)
c.*358T>C (n.*358T>C)
c.2048T>C (p.Phe683Ser)
c.*1872T>C (n.*1872T>C)
c.*1923T>C (n.*1923T>C)
c.1859T>C (p.Phe620Ser)
c.2252T>C (p.Phe751Ser)
n.4192T>C
c.*2320T>C (n.*2320T>C)
c.2606T>C (p.Phe869Ser)
c.*1869T>C (n.*1869T>C)
c.*1921T>C (n.*1921T>C)
c.*2056T>C (n.*2056T>C)
c.*1473T>C (n.*1473T>C)
c.804-4071T>C (n.804-4071T>C)
c.2420T>C (p.Phe807Ser)
c.1217T>C (p.Phe406Ser)
n.2502T>C
c.2414T>C (p.Phe805Ser)
c.1487T>C (p.Phe496Ser)
c.2465T>C (p.Phe822Ser)
c.2309T>C (p.Phe770Ser)
c.2111T>C (p.Phe704Ser)
n.2464T>C
7g.5977613A>TCA366735616PMS2c.*1816T>A (n.*1816T>A)
c.2417T>A (p.Phe806Tyr)
c.2312T>A (p.Phe771Tyr)
c.1780T>A (n.1780T>A)
c.*2014T>A (n.*2014T>A)
c.2264T>A (p.Phe755Tyr)
c.*1841T>A (n.*1841T>A)
c.2222T>A (p.Phe741Tyr)
c.*1819T>A (n.*1819T>A)
c.*2007T>A (n.*2007T>A)
c.*1677T>A (n.*1677T>A)
n.3274T>A
c.2102T>A (p.Phe701Tyr)
c.2015T>A (p.Phe672Tyr)
c.1847T>A (p.Phe616Tyr)
c.*1510T>A (n.*1510T>A)
c.*738T>A (n.*738T>A)
c.*1415T>A (n.*1415T>A)
c.2453T>A (p.Phe818Tyr)
c.*61T>A (n.*61T>A)
c.2276T>A (p.Phe759Tyr)
n.2533T>A
c.2043T>A
c.*1951T>A (n.*1951T>A)
c.*1310T>A (n.*1310T>A)
c.*1577T>A (n.*1577T>A)
c.*358T>A (n.*358T>A)
c.2048T>A (p.Phe683Tyr)
c.*1872T>A (n.*1872T>A)
c.*1923T>A (n.*1923T>A)
c.1859T>A (p.Phe620Tyr)
c.2252T>A (p.Phe751Tyr)
n.4192T>A
c.*2320T>A (n.*2320T>A)
c.2606T>A (p.Phe869Tyr)
c.*1869T>A (n.*1869T>A)
c.*1921T>A (n.*1921T>A)
c.*2056T>A (n.*2056T>A)
c.*1473T>A (n.*1473T>A)
c.804-4071T>A (n.804-4071T>A)
c.2420T>A (p.Phe807Tyr)
c.1217T>A (p.Phe406Tyr)
n.2502T>A
c.2414T>A (p.Phe805Tyr)
c.1487T>A (p.Phe496Tyr)
c.2465T>A (p.Phe822Tyr)
c.2309T>A (p.Phe770Tyr)
c.2111T>A (p.Phe704Tyr)
n.2464T>A
dbSNP
7g.5977614A>CCA366735617PMS2c.*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
7g.5977614A>GCA366735619PMS2c.*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
7g.5977614A>TCA366735621PMS2c.*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
7g.5977615C>ACA366735622PMS2c.*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
7g.5977615C=CA1685250062PMS2c.*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=
7g.5977615C>GCA366735624PMS2c.*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
7g.5977615C>TCA011467PMS2c.*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
7g.5977616A=CA1685250070PMS2c.*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=
7g.5977616A>CCA366735628PMS2c.*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
7g.5977616A>GCA366735627PMS2c.*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
7g.5977616A>TCA366735625PMS2c.*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
7g.5977617T>ACA366735632PMS2c.*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
7g.5977617T>CCA366735630PMS2c.*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
7g.5977617T>GCA366735631PMS2c.*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
7g.5977617T=CA1685250076PMS2c.*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=
7g.5977618C>ACA366735633PMS2c.*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
7g.5977618C=CA1685250081PMS2c.*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=
7g.5977618C>GCA366735634PMS2c.*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
7g.5977618C>TCA048082PMS2c.*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
7g.5977619T>ACA366735637PMS2c.*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
7g.5977619T>CCA153220111PMS2c.*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
7g.5977619T>GCA366735638PMS2c.*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
7g.5977619T=CA1685250085PMS2c.*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=
7g.5977620G>ACA366735640PMS2c.*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
7g.5977620G>CCA366735642PMS2c.*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
7g.5977620G=CA1685250090PMS2c.*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=
7g.5977620G>TCA366735644PMS2c.*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
7g.5977621C>ACA366735645PMS2c.*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
7g.5977621C=CA1685250094PMS2c.*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=
7g.5977621C>GCA011460PMS2c.*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
7g.5977621C>TCA453642330PMS2c.*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

Number of alleles fetched