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.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
7g.5977622T>ACA366735652PMS2c.*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
7g.5977622T>CCA366735649PMS2c.*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
7g.5977622T>GCA366735650PMS2c.*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
7g.5977623delCA2681676223PMS2c.*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
7g.5977623T>ACA366735654PMS2c.*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
7g.5977623T>CCA366735656PMS2c.*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
7g.5977623T>GCA366735657PMS2c.*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
7g.5977624G>ACA453642332PMS2c.*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
7g.5977624G>CCA453642333PMS2c.*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
7g.5977624G>TCA453642335PMS2c.*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
7g.5977625A>CCA366735660PMS2c.*1804T>G (n.*1804T>G)
c.2405T>G (p.Val802Gly)
c.2300T>G (p.Val767Gly)
c.1768T>G (n.1768T>G)
c.*2002T>G (n.*2002T>G)
c.2252T>G (p.Val751Gly)
c.*1829T>G (n.*1829T>G)
c.2210T>G (p.Val737Gly)
c.*1807T>G (n.*1807T>G)
c.*1995T>G (n.*1995T>G)
c.*1665T>G (n.*1665T>G)
n.3262T>G
c.2090T>G (p.Val697Gly)
c.2003T>G (p.Val668Gly)
c.1835T>G (p.Val612Gly)
c.*1498T>G (n.*1498T>G)
c.*726T>G (n.*726T>G)
c.*1403T>G (n.*1403T>G)
c.2441T>G (p.Val814Gly)
c.*49T>G (n.*49T>G)
c.2264T>G (p.Val755Gly)
n.2521T>G
c.2031T>G
c.*1939T>G (n.*1939T>G)
c.*1298T>G (n.*1298T>G)
c.*1565T>G (n.*1565T>G)
c.*346T>G (n.*346T>G)
c.2036T>G (p.Val679Gly)
c.*1860T>G (n.*1860T>G)
c.*1911T>G (n.*1911T>G)
c.1847T>G (p.Val616Gly)
c.2240T>G (p.Val747Gly)
n.4180T>G
c.*2308T>G (n.*2308T>G)
c.2594T>G (p.Val865Gly)
c.*1857T>G (n.*1857T>G)
c.*1909T>G (n.*1909T>G)
c.*2044T>G (n.*2044T>G)
c.*1461T>G (n.*1461T>G)
c.804-4083T>G (n.804-4083T>G)
c.2408T>G (p.Val803Gly)
c.1205T>G (p.Val402Gly)
n.2490T>G
c.2402T>G (p.Val801Gly)
c.1475T>G (p.Val492Gly)
c.2453T>G (p.Val818Gly)
c.2297T>G (p.Val766Gly)
c.2099T>G (p.Val700Gly)
n.2452T>G
dbSNP gnomAD v4
7g.5977625A>GCA366735661PMS2c.*1804T>C (n.*1804T>C)
c.2405T>C (p.Val802Ala)
c.2300T>C (p.Val767Ala)
c.1768T>C (n.1768T>C)
c.*2002T>C (n.*2002T>C)
c.2252T>C (p.Val751Ala)
c.*1829T>C (n.*1829T>C)
c.2210T>C (p.Val737Ala)
c.*1807T>C (n.*1807T>C)
c.*1995T>C (n.*1995T>C)
c.*1665T>C (n.*1665T>C)
n.3262T>C
c.2090T>C (p.Val697Ala)
c.2003T>C (p.Val668Ala)
c.1835T>C (p.Val612Ala)
c.*1498T>C (n.*1498T>C)
c.*726T>C (n.*726T>C)
c.*1403T>C (n.*1403T>C)
c.2441T>C (p.Val814Ala)
c.*49T>C (n.*49T>C)
c.2264T>C (p.Val755Ala)
n.2521T>C
c.2031T>C
c.*1939T>C (n.*1939T>C)
c.*1298T>C (n.*1298T>C)
c.*1565T>C (n.*1565T>C)
c.*346T>C (n.*346T>C)
c.2036T>C (p.Val679Ala)
c.*1860T>C (n.*1860T>C)
c.*1911T>C (n.*1911T>C)
c.1847T>C (p.Val616Ala)
c.2240T>C (p.Val747Ala)
n.4180T>C
c.*2308T>C (n.*2308T>C)
c.2594T>C (p.Val865Ala)
c.*1857T>C (n.*1857T>C)
c.*1909T>C (n.*1909T>C)
c.*2044T>C (n.*2044T>C)
c.*1461T>C (n.*1461T>C)
c.804-4083T>C (n.804-4083T>C)
c.2408T>C (p.Val803Ala)
c.1205T>C (p.Val402Ala)
n.2490T>C
c.2402T>C (p.Val801Ala)
c.1475T>C (p.Val492Ala)
c.2453T>C (p.Val818Ala)
c.2297T>C (p.Val766Ala)
c.2099T>C (p.Val700Ala)
n.2452T>C
ClinVar
7g.5977625A>TCA366735663PMS2c.*1804T>A (n.*1804T>A)
c.2405T>A (p.Val802Asp)
c.2300T>A (p.Val767Asp)
c.1768T>A (n.1768T>A)
c.*2002T>A (n.*2002T>A)
c.2252T>A (p.Val751Asp)
c.*1829T>A (n.*1829T>A)
c.2210T>A (p.Val737Asp)
c.*1807T>A (n.*1807T>A)
c.*1995T>A (n.*1995T>A)
c.*1665T>A (n.*1665T>A)
n.3262T>A
c.2090T>A (p.Val697Asp)
c.2003T>A (p.Val668Asp)
c.1835T>A (p.Val612Asp)
c.*1498T>A (n.*1498T>A)
c.*726T>A (n.*726T>A)
c.*1403T>A (n.*1403T>A)
c.2441T>A (p.Val814Asp)
c.*49T>A (n.*49T>A)
c.2264T>A (p.Val755Asp)
n.2521T>A
c.2031T>A
c.*1939T>A (n.*1939T>A)
c.*1298T>A (n.*1298T>A)
c.*1565T>A (n.*1565T>A)
c.*346T>A (n.*346T>A)
c.2036T>A (p.Val679Asp)
c.*1860T>A (n.*1860T>A)
c.*1911T>A (n.*1911T>A)
c.1847T>A (p.Val616Asp)
c.2240T>A (p.Val747Asp)
n.4180T>A
c.*2308T>A (n.*2308T>A)
c.2594T>A (p.Val865Asp)
c.*1857T>A (n.*1857T>A)
c.*1909T>A (n.*1909T>A)
c.*2044T>A (n.*2044T>A)
c.*1461T>A (n.*1461T>A)
c.804-4083T>A (n.804-4083T>A)
c.2408T>A (p.Val803Asp)
c.1205T>A (p.Val402Asp)
n.2490T>A
c.2402T>A (p.Val801Asp)
c.1475T>A (p.Val492Asp)
c.2453T>A (p.Val818Asp)
c.2297T>A (p.Val766Asp)
c.2099T>A (p.Val700Asp)
n.2452T>A
dbSNP
7g.5977626C>ACA366735665PMS2c.*1803G>T (n.*1803G>T)
c.2404G>T (p.Val802Phe)
c.2299G>T (p.Val767Phe)
c.1767G>T (n.1767G>T)
c.*2001G>T (n.*2001G>T)
c.2251G>T (p.Val751Phe)
c.*1828G>T (n.*1828G>T)
c.2209G>T (p.Val737Phe)
c.*1806G>T (n.*1806G>T)
c.*1994G>T (n.*1994G>T)
c.*1664G>T (n.*1664G>T)
n.3261G>T
c.2089G>T (p.Val697Phe)
c.2002G>T (p.Val668Phe)
c.1834G>T (p.Val612Phe)
c.*1497G>T (n.*1497G>T)
c.*725G>T (n.*725G>T)
c.*1402G>T (n.*1402G>T)
c.2440G>T (p.Val814Phe)
c.*48G>T (n.*48G>T)
c.2263G>T (p.Val755Phe)
n.2520G>T
c.2030G>T
c.*1938G>T (n.*1938G>T)
c.*1297G>T (n.*1297G>T)
c.*1564G>T (n.*1564G>T)
c.*345G>T (n.*345G>T)
c.2035G>T (p.Val679Phe)
c.*1859G>T (n.*1859G>T)
c.*1910G>T (n.*1910G>T)
c.1846G>T (p.Val616Phe)
c.2239G>T (p.Val747Phe)
n.4179G>T
c.*2307G>T (n.*2307G>T)
c.2593G>T (p.Val865Phe)
c.*1856G>T (n.*1856G>T)
c.*1908G>T (n.*1908G>T)
c.*2043G>T (n.*2043G>T)
c.*1460G>T (n.*1460G>T)
c.804-4084G>T (n.804-4084G>T)
c.2407G>T (p.Val803Phe)
c.1204G>T (p.Val402Phe)
n.2489G>T
c.2401G>T (p.Val801Phe)
c.1474G>T (p.Val492Phe)
c.2452G>T (p.Val818Phe)
c.2296G>T (p.Val766Phe)
c.2098G>T (p.Val700Phe)
n.2451G>T
7g.5977626C=CA1685250098PMS2c.*1803G= (n.*1803G=)
c.2404G= (p.Val802=)
c.2299G= (p.Val767=)
c.1767G= (n.1767G=)
c.*2001G= (n.*2001G=)
c.2251G= (p.Val751=)
c.*1828G= (n.*1828G=)
c.2209G= (p.Val737=)
c.*1806G= (n.*1806G=)
c.*1994G= (n.*1994G=)
c.*1664G= (n.*1664G=)
n.3261G=
c.2089G= (p.Val697=)
c.2002G= (p.Val668=)
c.1834G= (p.Val612=)
c.*1497G= (n.*1497G=)
c.*725G= (n.*725G=)
c.*1402G= (n.*1402G=)
c.2440G= (p.Val814=)
c.*48G= (n.*48G=)
c.2263G= (p.Val755=)
n.2520G=
c.2030G=
c.*1938G= (n.*1938G=)
c.*1297G= (n.*1297G=)
c.*1564G= (n.*1564G=)
c.*345G= (n.*345G=)
c.2035G= (p.Val679=)
c.*1859G= (n.*1859G=)
c.*1910G= (n.*1910G=)
c.1846G= (p.Val616=)
c.2239G= (p.Val747=)
n.4179G=
c.*2307G= (n.*2307G=)
c.2593G= (p.Val865=)
c.*1856G= (n.*1856G=)
c.*1908G= (n.*1908G=)
c.*2043G= (n.*2043G=)
c.*1460G= (n.*1460G=)
c.804-4084G= (n.804-4084G=)
c.2407G= (p.Val803=)
c.1204G= (p.Val402=)
n.2489G=
c.2401G= (p.Val801=)
c.1474G= (p.Val492=)
c.2452G= (p.Val818=)
c.2296G= (p.Val766=)
c.2098G= (p.Val700=)
n.2451G=
7g.5977626C>GCA366735666PMS2c.*1803G>C (n.*1803G>C)
c.2404G>C (p.Val802Leu)
c.2299G>C (p.Val767Leu)
c.1767G>C (n.1767G>C)
c.*2001G>C (n.*2001G>C)
c.2251G>C (p.Val751Leu)
c.*1828G>C (n.*1828G>C)
c.2209G>C (p.Val737Leu)
c.*1806G>C (n.*1806G>C)
c.*1994G>C (n.*1994G>C)
c.*1664G>C (n.*1664G>C)
n.3261G>C
c.2089G>C (p.Val697Leu)
c.2002G>C (p.Val668Leu)
c.1834G>C (p.Val612Leu)
c.*1497G>C (n.*1497G>C)
c.*725G>C (n.*725G>C)
c.*1402G>C (n.*1402G>C)
c.2440G>C (p.Val814Leu)
c.*48G>C (n.*48G>C)
c.2263G>C (p.Val755Leu)
n.2520G>C
c.2030G>C
c.*1938G>C (n.*1938G>C)
c.*1297G>C (n.*1297G>C)
c.*1564G>C (n.*1564G>C)
c.*345G>C (n.*345G>C)
c.2035G>C (p.Val679Leu)
c.*1859G>C (n.*1859G>C)
c.*1910G>C (n.*1910G>C)
c.1846G>C (p.Val616Leu)
c.2239G>C (p.Val747Leu)
n.4179G>C
c.*2307G>C (n.*2307G>C)
c.2593G>C (p.Val865Leu)
c.*1856G>C (n.*1856G>C)
c.*1908G>C (n.*1908G>C)
c.*2043G>C (n.*2043G>C)
c.*1460G>C (n.*1460G>C)
c.804-4084G>C (n.804-4084G>C)
c.2407G>C (p.Val803Leu)
c.1204G>C (p.Val402Leu)
n.2489G>C
c.2401G>C (p.Val801Leu)
c.1474G>C (p.Val492Leu)
c.2452G>C (p.Val818Leu)
c.2296G>C (p.Val766Leu)
c.2098G>C (p.Val700Leu)
n.2451G>C
dbSNP
7g.5977626C>TCA048050PMS2c.*1803G>A (n.*1803G>A)
c.2404G>A (p.Val802Ile)
c.2299G>A (p.Val767Ile)
c.1767G>A (n.1767G>A)
c.*2001G>A (n.*2001G>A)
c.2251G>A (p.Val751Ile)
c.*1828G>A (n.*1828G>A)
c.2209G>A (p.Val737Ile)
c.*1806G>A (n.*1806G>A)
c.*1994G>A (n.*1994G>A)
c.*1664G>A (n.*1664G>A)
n.3261G>A
c.2089G>A (p.Val697Ile)
c.2002G>A (p.Val668Ile)
c.1834G>A (p.Val612Ile)
c.*1497G>A (n.*1497G>A)
c.*725G>A (n.*725G>A)
c.*1402G>A (n.*1402G>A)
c.2440G>A (p.Val814Ile)
c.*48G>A (n.*48G>A)
c.2263G>A (p.Val755Ile)
n.2520G>A
c.2030G>A
c.*1938G>A (n.*1938G>A)
c.*1297G>A (n.*1297G>A)
c.*1564G>A (n.*1564G>A)
c.*345G>A (n.*345G>A)
c.2035G>A (p.Val679Ile)
c.*1859G>A (n.*1859G>A)
c.*1910G>A (n.*1910G>A)
c.1846G>A (p.Val616Ile)
c.2239G>A (p.Val747Ile)
n.4179G>A
c.*2307G>A (n.*2307G>A)
c.2593G>A (p.Val865Ile)
c.*1856G>A (n.*1856G>A)
c.*1908G>A (n.*1908G>A)
c.*2043G>A (n.*2043G>A)
c.*1460G>A (n.*1460G>A)
c.804-4084G>A (n.804-4084G>A)
c.2407G>A (p.Val803Ile)
c.1204G>A (p.Val402Ile)
n.2489G>A
c.2401G>A (p.Val801Ile)
c.1474G>A (p.Val492Ile)
c.2452G>A (p.Val818Ile)
c.2296G>A (p.Val766Ile)
c.2098G>A (p.Val700Ile)
n.2451G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.5977627T>ACA453642336PMS2c.*1802A>T (n.*1802A>T)
c.2403A>T (p.Arg801=)
c.2298A>T (p.Arg766=)
c.1766A>T (n.1766A>T)
c.*2000A>T (n.*2000A>T)
c.2250A>T (p.Arg750=)
c.*1827A>T (n.*1827A>T)
c.2208A>T (p.Arg736=)
c.*1805A>T (n.*1805A>T)
c.*1993A>T (n.*1993A>T)
c.*1663A>T (n.*1663A>T)
n.3260A>T
c.2088A>T (p.Arg696=)
c.2001A>T (p.Arg667=)
c.1833A>T (p.Arg611=)
c.*1496A>T (n.*1496A>T)
c.*724A>T (n.*724A>T)
c.*1401A>T (n.*1401A>T)
c.2439A>T (p.Arg813=)
c.*47A>T (n.*47A>T)
c.2262A>T (p.Arg754=)
n.2519A>T
c.2029A>T
c.*1937A>T (n.*1937A>T)
c.*1296A>T (n.*1296A>T)
c.*1563A>T (n.*1563A>T)
c.*344A>T (n.*344A>T)
c.2034A>T (p.Arg678=)
c.*1858A>T (n.*1858A>T)
c.*1909A>T (n.*1909A>T)
c.1845A>T (p.Arg615=)
c.2238A>T (p.Arg746=)
n.4178A>T
c.*2306A>T (n.*2306A>T)
c.2592A>T (p.Arg864=)
c.*1855A>T (n.*1855A>T)
c.*1907A>T (n.*1907A>T)
c.*2042A>T (n.*2042A>T)
c.*1459A>T (n.*1459A>T)
c.804-4085A>T (n.804-4085A>T)
c.2406A>T (p.Arg802=)
c.1203A>T (p.Arg401=)
n.2488A>T
c.2400A>T (p.Arg800=)
c.1473A>T (p.Arg491=)
c.2451A>T (p.Arg817=)
c.2295A>T (p.Arg765=)
c.2097A>T (p.Arg699=)
n.2450A>T
dbSNP
7g.5977627T>CCA453642337PMS2c.*1802A>G (n.*1802A>G)
c.2403A>G (p.Arg801=)
c.2298A>G (p.Arg766=)
c.1766A>G (n.1766A>G)
c.*2000A>G (n.*2000A>G)
c.2250A>G (p.Arg750=)
c.*1827A>G (n.*1827A>G)
c.2208A>G (p.Arg736=)
c.*1805A>G (n.*1805A>G)
c.*1993A>G (n.*1993A>G)
c.*1663A>G (n.*1663A>G)
n.3260A>G
c.2088A>G (p.Arg696=)
c.2001A>G (p.Arg667=)
c.1833A>G (p.Arg611=)
c.*1496A>G (n.*1496A>G)
c.*724A>G (n.*724A>G)
c.*1401A>G (n.*1401A>G)
c.2439A>G (p.Arg813=)
c.*47A>G (n.*47A>G)
c.2262A>G (p.Arg754=)
n.2519A>G
c.2029A>G
c.*1937A>G (n.*1937A>G)
c.*1296A>G (n.*1296A>G)
c.*1563A>G (n.*1563A>G)
c.*344A>G (n.*344A>G)
c.2034A>G (p.Arg678=)
c.*1858A>G (n.*1858A>G)
c.*1909A>G (n.*1909A>G)
c.1845A>G (p.Arg615=)
c.2238A>G (p.Arg746=)
n.4178A>G
c.*2306A>G (n.*2306A>G)
c.2592A>G (p.Arg864=)
c.*1855A>G (n.*1855A>G)
c.*1907A>G (n.*1907A>G)
c.*2042A>G (n.*2042A>G)
c.*1459A>G (n.*1459A>G)
c.804-4085A>G (n.804-4085A>G)
c.2406A>G (p.Arg802=)
c.1203A>G (p.Arg401=)
n.2488A>G
c.2400A>G (p.Arg800=)
c.1473A>G (p.Arg491=)
c.2451A>G (p.Arg817=)
c.2295A>G (p.Arg765=)
c.2097A>G (p.Arg699=)
n.2450A>G
ClinVar dbSNP gnomAD v4
7g.5977627T>GCA453642339PMS2c.*1802A>C (n.*1802A>C)
c.2403A>C (p.Arg801=)
c.2298A>C (p.Arg766=)
c.1766A>C (n.1766A>C)
c.*2000A>C (n.*2000A>C)
c.2250A>C (p.Arg750=)
c.*1827A>C (n.*1827A>C)
c.2208A>C (p.Arg736=)
c.*1805A>C (n.*1805A>C)
c.*1993A>C (n.*1993A>C)
c.*1663A>C (n.*1663A>C)
n.3260A>C
c.2088A>C (p.Arg696=)
c.2001A>C (p.Arg667=)
c.1833A>C (p.Arg611=)
c.*1496A>C (n.*1496A>C)
c.*724A>C (n.*724A>C)
c.*1401A>C (n.*1401A>C)
c.2439A>C (p.Arg813=)
c.*47A>C (n.*47A>C)
c.2262A>C (p.Arg754=)
n.2519A>C
c.2029A>C
c.*1937A>C (n.*1937A>C)
c.*1296A>C (n.*1296A>C)
c.*1563A>C (n.*1563A>C)
c.*344A>C (n.*344A>C)
c.2034A>C (p.Arg678=)
c.*1858A>C (n.*1858A>C)
c.*1909A>C (n.*1909A>C)
c.1845A>C (p.Arg615=)
c.2238A>C (p.Arg746=)
n.4178A>C
c.*2306A>C (n.*2306A>C)
c.2592A>C (p.Arg864=)
c.*1855A>C (n.*1855A>C)
c.*1907A>C (n.*1907A>C)
c.*2042A>C (n.*2042A>C)
c.*1459A>C (n.*1459A>C)
c.804-4085A>C (n.804-4085A>C)
c.2406A>C (p.Arg802=)
c.1203A>C (p.Arg401=)
n.2488A>C
c.2400A>C (p.Arg800=)
c.1473A>C (p.Arg491=)
c.2451A>C (p.Arg817=)
c.2295A>C (p.Arg765=)
c.2097A>C (p.Arg699=)
n.2450A>C
ClinVar
7g.5977627T=CA1685250101PMS2c.*1802A= (n.*1802A=)
c.2403A= (p.Arg801=)
c.2298A= (p.Arg766=)
c.1766A= (n.1766A=)
c.*2000A= (n.*2000A=)
c.2250A= (p.Arg750=)
c.*1827A= (n.*1827A=)
c.2208A= (p.Arg736=)
c.*1805A= (n.*1805A=)
c.*1993A= (n.*1993A=)
c.*1663A= (n.*1663A=)
n.3260A=
c.2088A= (p.Arg696=)
c.2001A= (p.Arg667=)
c.1833A= (p.Arg611=)
c.*1496A= (n.*1496A=)
c.*724A= (n.*724A=)
c.*1401A= (n.*1401A=)
c.2439A= (p.Arg813=)
c.*47A= (n.*47A=)
c.2262A= (p.Arg754=)
n.2519A=
c.2029A=
c.*1937A= (n.*1937A=)
c.*1296A= (n.*1296A=)
c.*1563A= (n.*1563A=)
c.*344A= (n.*344A=)
c.2034A= (p.Arg678=)
c.*1858A= (n.*1858A=)
c.*1909A= (n.*1909A=)
c.1845A= (p.Arg615=)
c.2238A= (p.Arg746=)
n.4178A=
c.*2306A= (n.*2306A=)
c.2592A= (p.Arg864=)
c.*1855A= (n.*1855A=)
c.*1907A= (n.*1907A=)
c.*2042A= (n.*2042A=)
c.*1459A= (n.*1459A=)
c.804-4085A= (n.804-4085A=)
c.2406A= (p.Arg802=)
c.1203A= (p.Arg401=)
n.2488A=
c.2400A= (p.Arg800=)
c.1473A= (p.Arg491=)
c.2451A= (p.Arg817=)
c.2295A= (p.Arg765=)
c.2097A= (p.Arg699=)
n.2450A=
7g.5977628C>ACA366735668PMS2c.*1801G>T (n.*1801G>T)
c.2402G>T (p.Arg801Leu)
c.2297G>T (p.Arg766Leu)
c.1765G>T (n.1765G>T)
c.*1999G>T (n.*1999G>T)
c.2249G>T (p.Arg750Leu)
c.*1826G>T (n.*1826G>T)
c.2207G>T (p.Arg736Leu)
c.*1804G>T (n.*1804G>T)
c.*1992G>T (n.*1992G>T)
c.*1662G>T (n.*1662G>T)
n.3259G>T
c.2087G>T (p.Arg696Leu)
c.2000G>T (p.Arg667Leu)
c.1832G>T (p.Arg611Leu)
c.*1495G>T (n.*1495G>T)
c.*723G>T (n.*723G>T)
c.*1400G>T (n.*1400G>T)
c.2438G>T (p.Arg813Leu)
c.*46G>T (n.*46G>T)
c.2261G>T (p.Arg754Leu)
n.2518G>T
c.2028G>T
c.*1936G>T (n.*1936G>T)
c.*1295G>T (n.*1295G>T)
c.*1562G>T (n.*1562G>T)
c.*343G>T (n.*343G>T)
c.2033G>T (p.Arg678Leu)
c.*1857G>T (n.*1857G>T)
c.*1908G>T (n.*1908G>T)
c.1844G>T (p.Arg615Leu)
c.2237G>T (p.Arg746Leu)
n.4177G>T
c.*2305G>T (n.*2305G>T)
c.2591G>T (p.Arg864Leu)
c.*1854G>T (n.*1854G>T)
c.*1906G>T (n.*1906G>T)
c.*2041G>T (n.*2041G>T)
c.*1458G>T (n.*1458G>T)
c.804-4086G>T (n.804-4086G>T)
c.2405G>T (p.Arg802Leu)
c.1202G>T (p.Arg401Leu)
n.2487G>T
c.2399G>T (p.Arg800Leu)
c.1472G>T (p.Arg491Leu)
c.2450G>T (p.Arg817Leu)
c.2294G>T (p.Arg765Leu)
c.2096G>T (p.Arg699Leu)
n.2449G>T
7g.5977628C=CA1685250105PMS2c.*1801G= (n.*1801G=)
c.2402G= (p.Arg801=)
c.2297G= (p.Arg766=)
c.1765G= (n.1765G=)
c.*1999G= (n.*1999G=)
c.2249G= (p.Arg750=)
c.*1826G= (n.*1826G=)
c.2207G= (p.Arg736=)
c.*1804G= (n.*1804G=)
c.*1992G= (n.*1992G=)
c.*1662G= (n.*1662G=)
n.3259G=
c.2087G= (p.Arg696=)
c.2000G= (p.Arg667=)
c.1832G= (p.Arg611=)
c.*1495G= (n.*1495G=)
c.*723G= (n.*723G=)
c.*1400G= (n.*1400G=)
c.2438G= (p.Arg813=)
c.*46G= (n.*46G=)
c.2261G= (p.Arg754=)
n.2518G=
c.2028G=
c.*1936G= (n.*1936G=)
c.*1295G= (n.*1295G=)
c.*1562G= (n.*1562G=)
c.*343G= (n.*343G=)
c.2033G= (p.Arg678=)
c.*1857G= (n.*1857G=)
c.*1908G= (n.*1908G=)
c.1844G= (p.Arg615=)
c.2237G= (p.Arg746=)
n.4177G=
c.*2305G= (n.*2305G=)
c.2591G= (p.Arg864=)
c.*1854G= (n.*1854G=)
c.*1906G= (n.*1906G=)
c.*2041G= (n.*2041G=)
c.*1458G= (n.*1458G=)
c.804-4086G= (n.804-4086G=)
c.2405G= (p.Arg802=)
c.1202G= (p.Arg401=)
n.2487G=
c.2399G= (p.Arg800=)
c.1472G= (p.Arg491=)
c.2450G= (p.Arg817=)
c.2294G= (p.Arg765=)
c.2096G= (p.Arg699=)
n.2449G=
7g.5977628C>GCA366735670PMS2c.*1801G>C (n.*1801G>C)
c.2402G>C (p.Arg801Pro)
c.2297G>C (p.Arg766Pro)
c.1765G>C (n.1765G>C)
c.*1999G>C (n.*1999G>C)
c.2249G>C (p.Arg750Pro)
c.*1826G>C (n.*1826G>C)
c.2207G>C (p.Arg736Pro)
c.*1804G>C (n.*1804G>C)
c.*1992G>C (n.*1992G>C)
c.*1662G>C (n.*1662G>C)
n.3259G>C
c.2087G>C (p.Arg696Pro)
c.2000G>C (p.Arg667Pro)
c.1832G>C (p.Arg611Pro)
c.*1495G>C (n.*1495G>C)
c.*723G>C (n.*723G>C)
c.*1400G>C (n.*1400G>C)
c.2438G>C (p.Arg813Pro)
c.*46G>C (n.*46G>C)
c.2261G>C (p.Arg754Pro)
n.2518G>C
c.2028G>C
c.*1936G>C (n.*1936G>C)
c.*1295G>C (n.*1295G>C)
c.*1562G>C (n.*1562G>C)
c.*343G>C (n.*343G>C)
c.2033G>C (p.Arg678Pro)
c.*1857G>C (n.*1857G>C)
c.*1908G>C (n.*1908G>C)
c.1844G>C (p.Arg615Pro)
c.2237G>C (p.Arg746Pro)
n.4177G>C
c.*2305G>C (n.*2305G>C)
c.2591G>C (p.Arg864Pro)
c.*1854G>C (n.*1854G>C)
c.*1906G>C (n.*1906G>C)
c.*2041G>C (n.*2041G>C)
c.*1458G>C (n.*1458G>C)
c.804-4086G>C (n.804-4086G>C)
c.2405G>C (p.Arg802Pro)
c.1202G>C (p.Arg401Pro)
n.2487G>C
c.2399G>C (p.Arg800Pro)
c.1472G>C (p.Arg491Pro)
c.2450G>C (p.Arg817Pro)
c.2294G>C (p.Arg765Pro)
c.2096G>C (p.Arg699Pro)
n.2449G>C
ClinVar
7g.5977628C>TCA16612379PMS2c.*1801G>A (n.*1801G>A)
c.2402G>A (p.Arg801Gln)
c.2297G>A (p.Arg766Gln)
c.1765G>A (n.1765G>A)
c.*1999G>A (n.*1999G>A)
c.2249G>A (p.Arg750Gln)
c.*1826G>A (n.*1826G>A)
c.2207G>A (p.Arg736Gln)
c.*1804G>A (n.*1804G>A)
c.*1992G>A (n.*1992G>A)
c.*1662G>A (n.*1662G>A)
n.3259G>A
c.2087G>A (p.Arg696Gln)
c.2000G>A (p.Arg667Gln)
c.1832G>A (p.Arg611Gln)
c.*1495G>A (n.*1495G>A)
c.*723G>A (n.*723G>A)
c.*1400G>A (n.*1400G>A)
c.2438G>A (p.Arg813Gln)
c.*46G>A (n.*46G>A)
c.2261G>A (p.Arg754Gln)
n.2518G>A
c.2028G>A
c.*1936G>A (n.*1936G>A)
c.*1295G>A (n.*1295G>A)
c.*1562G>A (n.*1562G>A)
c.*343G>A (n.*343G>A)
c.2033G>A (p.Arg678Gln)
c.*1857G>A (n.*1857G>A)
c.*1908G>A (n.*1908G>A)
c.1844G>A (p.Arg615Gln)
c.2237G>A (p.Arg746Gln)
n.4177G>A
c.*2305G>A (n.*2305G>A)
c.2591G>A (p.Arg864Gln)
c.*1854G>A (n.*1854G>A)
c.*1906G>A (n.*1906G>A)
c.*2041G>A (n.*2041G>A)
c.*1458G>A (n.*1458G>A)
c.804-4086G>A (n.804-4086G>A)
c.2405G>A (p.Arg802Gln)
c.1202G>A (p.Arg401Gln)
n.2487G>A
c.2399G>A (p.Arg800Gln)
c.1472G>A (p.Arg491Gln)
c.2450G>A (p.Arg817Gln)
c.2294G>A (p.Arg765Gln)
c.2096G>A (p.Arg699Gln)
n.2449G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5977628_5977629delinsCGCA1685250108PMS2c.*1800_*1801delinsCG (n.*1800_*1801delinsCG)
c.2401_2402delinsCG (p.Arg801=)
c.2296_2297delinsCG (p.Arg766=)
c.1764_1765delinsCG (n.1764_1765delinsCG)
c.*1998_*1999delinsCG (n.*1998_*1999delinsCG)
c.2248_2249delinsCG (p.Arg750=)
c.*1825_*1826delinsCG (n.*1825_*1826delinsCG)
c.2206_2207delinsCG (p.Arg736=)
c.*1803_*1804delinsCG (n.*1803_*1804delinsCG)
c.*1991_*1992delinsCG (n.*1991_*1992delinsCG)
c.*1661_*1662delinsCG (n.*1661_*1662delinsCG)
n.3258_3259delinsCG
c.2086_2087delinsCG (p.Arg696=)
c.1999_2000delinsCG (p.Arg667=)
c.1831_1832delinsCG (p.Arg611=)
c.*1494_*1495delinsCG (n.*1494_*1495delinsCG)
c.*722_*723delinsCG (n.*722_*723delinsCG)
c.*1399_*1400delinsCG (n.*1399_*1400delinsCG)
c.2437_2438delinsCG (p.Arg813=)
c.*45_*46delinsCG (n.*45_*46delinsCG)
c.2260_2261delinsCG (p.Arg754=)
n.2517_2518delinsCG
c.2027_2028delinsCG
c.*1935_*1936delinsCG (n.*1935_*1936delinsCG)
c.*1294_*1295delinsCG (n.*1294_*1295delinsCG)
c.*1561_*1562delinsCG (n.*1561_*1562delinsCG)
c.*342_*343delinsCG (n.*342_*343delinsCG)
c.2032_2033delinsCG (p.Arg678=)
c.*1856_*1857delinsCG (n.*1856_*1857delinsCG)
c.*1907_*1908delinsCG (n.*1907_*1908delinsCG)
c.1843_1844delinsCG (p.Arg615=)
c.2236_2237delinsCG (p.Arg746=)
n.4176_4177delinsCG
c.*2304_*2305delinsCG (n.*2304_*2305delinsCG)
c.2590_2591delinsCG (p.Arg864=)
c.*1853_*1854delinsCG (n.*1853_*1854delinsCG)
c.*1905_*1906delinsCG (n.*1905_*1906delinsCG)
c.*2040_*2041delinsCG (n.*2040_*2041delinsCG)
c.*1457_*1458delinsCG (n.*1457_*1458delinsCG)
c.804-4087_804-4086delinsCG (n.804-4087_804-4086delinsCG)
c.2404_2405delinsCG (p.Arg802=)
c.1201_1202delinsCG (p.Arg401=)
n.2486_2487delinsCG
c.2398_2399delinsCG (p.Arg800=)
c.1471_1472delinsCG (p.Arg491=)
c.2449_2450delinsCG (p.Arg817=)
c.2293_2294delinsCG (p.Arg765=)
c.2095_2096delinsCG (p.Arg699=)
n.2448_2449delinsCG
7g.5977629G>ACA011441PMS2c.*1800C>T (n.*1800C>T)
c.2401C>T (p.Arg801Ter)
c.2296C>T (p.Arg766Ter)
c.1764C>T (n.1764C>T)
c.*1998C>T (n.*1998C>T)
c.2248C>T (p.Arg750Ter)
c.*1825C>T (n.*1825C>T)
c.2206C>T (p.Arg736Ter)
c.*1803C>T (n.*1803C>T)
c.*1991C>T (n.*1991C>T)
c.*1661C>T (n.*1661C>T)
n.3258C>T
c.2086C>T (p.Arg696Ter)
c.1999C>T (p.Arg667Ter)
c.1831C>T (p.Arg611Ter)
c.*1494C>T (n.*1494C>T)
c.*722C>T (n.*722C>T)
c.*1399C>T (n.*1399C>T)
c.2437C>T (p.Arg813Ter)
c.*45C>T (n.*45C>T)
c.2260C>T (p.Arg754Ter)
n.2517C>T
c.2027C>T
c.*1935C>T (n.*1935C>T)
c.*1294C>T (n.*1294C>T)
c.*1561C>T (n.*1561C>T)
c.*342C>T (n.*342C>T)
c.2032C>T (p.Arg678Ter)
c.*1856C>T (n.*1856C>T)
c.*1907C>T (n.*1907C>T)
c.1843C>T (p.Arg615Ter)
c.2236C>T (p.Arg746Ter)
n.4176C>T
c.*2304C>T (n.*2304C>T)
c.2590C>T (p.Arg864Ter)
c.*1853C>T (n.*1853C>T)
c.*1905C>T (n.*1905C>T)
c.*2040C>T (n.*2040C>T)
c.*1457C>T (n.*1457C>T)
c.804-4087C>T (n.804-4087C>T)
c.2404C>T (p.Arg802Ter)
c.1201C>T (p.Arg401Ter)
n.2486C>T
c.2398C>T (p.Arg800Ter)
c.1471C>T (p.Arg491Ter)
c.2449C>T (p.Arg817Ter)
c.2293C>T (p.Arg765Ter)
c.2095C>T (p.Arg699Ter)
n.2448C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.5977629G>CCA366735674PMS2c.*1800C>G (n.*1800C>G)
c.2401C>G (p.Arg801Gly)
c.2296C>G (p.Arg766Gly)
c.1764C>G (n.1764C>G)
c.*1998C>G (n.*1998C>G)
c.2248C>G (p.Arg750Gly)
c.*1825C>G (n.*1825C>G)
c.2206C>G (p.Arg736Gly)
c.*1803C>G (n.*1803C>G)
c.*1991C>G (n.*1991C>G)
c.*1661C>G (n.*1661C>G)
n.3258C>G
c.2086C>G (p.Arg696Gly)
c.1999C>G (p.Arg667Gly)
c.1831C>G (p.Arg611Gly)
c.*1494C>G (n.*1494C>G)
c.*722C>G (n.*722C>G)
c.*1399C>G (n.*1399C>G)
c.2437C>G (p.Arg813Gly)
c.*45C>G (n.*45C>G)
c.2260C>G (p.Arg754Gly)
n.2517C>G
c.2027C>G
c.*1935C>G (n.*1935C>G)
c.*1294C>G (n.*1294C>G)
c.*1561C>G (n.*1561C>G)
c.*342C>G (n.*342C>G)
c.2032C>G (p.Arg678Gly)
c.*1856C>G (n.*1856C>G)
c.*1907C>G (n.*1907C>G)
c.1843C>G (p.Arg615Gly)
c.2236C>G (p.Arg746Gly)
n.4176C>G
c.*2304C>G (n.*2304C>G)
c.2590C>G (p.Arg864Gly)
c.*1853C>G (n.*1853C>G)
c.*1905C>G (n.*1905C>G)
c.*2040C>G (n.*2040C>G)
c.*1457C>G (n.*1457C>G)
c.804-4087C>G (n.804-4087C>G)
c.2404C>G (p.Arg802Gly)
c.1201C>G (p.Arg401Gly)
n.2486C>G
c.2398C>G (p.Arg800Gly)
c.1471C>G (p.Arg491Gly)
c.2449C>G (p.Arg817Gly)
c.2293C>G (p.Arg765Gly)
c.2095C>G (p.Arg699Gly)
n.2448C>G
ClinVar dbSNP gnomAD v4
7g.5977629G=CA1685250113PMS2c.*1800C= (n.*1800C=)
c.2401C= (p.Arg801=)
c.2296C= (p.Arg766=)
c.1764C= (n.1764C=)
c.*1998C= (n.*1998C=)
c.2248C= (p.Arg750=)
c.*1825C= (n.*1825C=)
c.2206C= (p.Arg736=)
c.*1803C= (n.*1803C=)
c.*1991C= (n.*1991C=)
c.*1661C= (n.*1661C=)
n.3258C=
c.2086C= (p.Arg696=)
c.1999C= (p.Arg667=)
c.1831C= (p.Arg611=)
c.*1494C= (n.*1494C=)
c.*722C= (n.*722C=)
c.*1399C= (n.*1399C=)
c.2437C= (p.Arg813=)
c.*45C= (n.*45C=)
c.2260C= (p.Arg754=)
n.2517C=
c.2027C=
c.*1935C= (n.*1935C=)
c.*1294C= (n.*1294C=)
c.*1561C= (n.*1561C=)
c.*342C= (n.*342C=)
c.2032C= (p.Arg678=)
c.*1856C= (n.*1856C=)
c.*1907C= (n.*1907C=)
c.1843C= (p.Arg615=)
c.2236C= (p.Arg746=)
n.4176C=
c.*2304C= (n.*2304C=)
c.2590C= (p.Arg864=)
c.*1853C= (n.*1853C=)
c.*1905C= (n.*1905C=)
c.*2040C= (n.*2040C=)
c.*1457C= (n.*1457C=)
c.804-4087C= (n.804-4087C=)
c.2404C= (p.Arg802=)
c.1201C= (p.Arg401=)
n.2486C=
c.2398C= (p.Arg800=)
c.1471C= (p.Arg491=)
c.2449C= (p.Arg817=)
c.2293C= (p.Arg765=)
c.2095C= (p.Arg699=)
n.2448C=
7g.5977629G>TCA10578643PMS2c.*1800C>A (n.*1800C>A)
c.2401C>A (p.Arg801=)
c.2296C>A (p.Arg766=)
c.1764C>A (n.1764C>A)
c.*1998C>A (n.*1998C>A)
c.2248C>A (p.Arg750=)
c.*1825C>A (n.*1825C>A)
c.2206C>A (p.Arg736=)
c.*1803C>A (n.*1803C>A)
c.*1991C>A (n.*1991C>A)
c.*1661C>A (n.*1661C>A)
n.3258C>A
c.2086C>A (p.Arg696=)
c.1999C>A (p.Arg667=)
c.1831C>A (p.Arg611=)
c.*1494C>A (n.*1494C>A)
c.*722C>A (n.*722C>A)
c.*1399C>A (n.*1399C>A)
c.2437C>A (p.Arg813=)
c.*45C>A (n.*45C>A)
c.2260C>A (p.Arg754=)
n.2517C>A
c.2027C>A
c.*1935C>A (n.*1935C>A)
c.*1294C>A (n.*1294C>A)
c.*1561C>A (n.*1561C>A)
c.*342C>A (n.*342C>A)
c.2032C>A (p.Arg678=)
c.*1856C>A (n.*1856C>A)
c.*1907C>A (n.*1907C>A)
c.1843C>A (p.Arg615=)
c.2236C>A (p.Arg746=)
n.4176C>A
c.*2304C>A (n.*2304C>A)
c.2590C>A (p.Arg864=)
c.*1853C>A (n.*1853C>A)
c.*1905C>A (n.*1905C>A)
c.*2040C>A (n.*2040C>A)
c.*1457C>A (n.*1457C>A)
c.804-4087C>A (n.804-4087C>A)
c.2404C>A (p.Arg802=)
c.1201C>A (p.Arg401=)
n.2486C>A
c.2398C>A (p.Arg800=)
c.1471C>A (p.Arg491=)
c.2449C>A (p.Arg817=)
c.2293C>A (p.Arg765=)
c.2095C>A (p.Arg699=)
n.2448C>A
ClinVar dbSNP

Number of alleles fetched