PMC:6037202 / 25582-28610 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/6037202","sourcedb":"PMC","sourceid":"6037202","source_url":"https://www.ncbi.nlm.nih.gov/pmc/6037202","text":"Gene RefSeq mRNA ID No. of Occurrences No. of Individuals with Associated Tumor Variant Description Consequence\nATM GenBank: NM_000051 1 1 c.193C\u003eT (p.Gln65∗) stop gain\nATM GenBank: NM_000051 1 1 c.5623C\u003eT (p.Arg1875∗) stop gain\nATM GenBank: NM_000051 1 0 c.6583+1G\u003eA splice site (donor)\nATM GenBank: NM_000051 1 0 c.6866-6867insT (p.Ser2289Serfs) frameshift\nATM GenBank: NM_000051 1 1 c.748C\u003eT (p.Arg250∗) stop gain\nATM GenBank: NM_000051 1 1 c.8147T\u003eC (p.Val2716Ala) missense\nATM GenBank: NM_000051 1 0 c.8405delA (p.Gln2802fs) frameshift\nATM GenBank: NM_000051 1 0 c.5821G\u003eC (p.Val1941Leu) missense\nATM GenBank: NM_000051 1 0 c.8122G\u003eA (p.Asp2708Asn) missense\nATM GenBank: NM_000051 1 1 c.7775C\u003eG (p.Ser2592Cys) missense\nBMPR1Aa GenBank: NM_004329 1 1 c.730C\u003eT (p.Arg244∗) stop gain\nBRCA1 GenBank: NM_007300 1 1 c.1961−1962insA (p.Lys654fs) frameshift\nBRCA2 GenBank: NM_000059 1 0 c.4525C\u003eT (p.Gln1509∗) stop gain\nBRCA2 GenBank: NM_000059 1 1 c.5682C\u003eG (p.Tyr1894∗) stop gain\nBRCA2 GenBank: NM_000059 1 0 c.6275−6276delTT (p.Leu2092fs) frameshift\nBRCA2 GenBank: NM_000059 1 1 c.6402−6406delTAACT (p.Asn2135Leufs) frameshift\nBRCA2 GenBank: NM_000059 1 0 c.6535−6536insA (p.Val2179fs) frameshift\nBRCA2 GenBank: NM_000059 1 1 c.1805−1806insA (p.Gly602fs) frameshift\nCDKN1B GenBank: NM_004064 1 0 c.148−149delAG (p.Arg50fs) frameshift\nCHEK2 GenBank: NM_001005735 3 1 c.1392delT (p.Leu464fs) frameshift\nCHEK2 GenBank: NM_001005735 10 6 c.1229delC (p.Thr410fs) frameshift\nCHEK2 GenBank: NM_001005735 1 1 c.1051+1C\u003eT splice site (donor)\nCHEK2 GenBank: NM_001005735 1 0 c.784delG (p.Glu262fs) frameshift\nCHEK2 GenBank: NM_001005735 1 1 c.562C\u003eT (p.Arg188Trp) missense\nEXT2 GenBank: NM_000401 1 0 c.613C\u003eT (p.Gln205∗) stop gain\nFH GenBank: NM_000143 3 0 c.1433−1434insAAA (p.Lys477_Asn478insLys) in-frame insertion\nFH GenBank: NM_000143 1 1 c.320A\u003eC (p.Asn107Thr) missense\nFHb GenBank: NM_000143 1 0 c.521C\u003eG (p.Pro174Arg) missense\nMAX GenBank: NM_002382 1 1 c.289C\u003eT (p.Gln97∗) stop gain\nMAXb GenBank: NM_002382 1 1 c.1A\u003eG (p.Met1Val) start loss\nMLH1 GenBank: NM_000249, NM_001258273 1 1 c.1884−1G\u003eA splice site (acceptor)\nMSH2 GenBank: NM_000251 1 0 c.1452−1455insAATG (p.Leu484-Met485fs) frameshift\nNF1 GenBank: NM_001042492 1 1 c.1541−1542delAG (p.Gln514fs) frameshift\nNF1 GenBank: NM_001042492 1 1 c.4620delA (p.Ala1540fs) frameshift\nNF1 GenBank: NM_001042492 1 1 c.5831delT (p.Leu1944fs) frameshift\nNF1 GenBank: NM_001042492 1 1 c.7768-7769insA (p.His2590fs) frameshift\nNTHL1c GenBank: NM_002528 3 3 c.268C\u003eT (p.Gln90∗) stop gain\nPALB2 GenBank: NM_024675 4 3 c.3113G\u003eA (p.Trp1038∗) stop gain\nPALB2 GenBank: NM_024675 1 1 c.3116delA (p.Asn1039fs) frameshift\nPALB2 GenBank: NM_024675 1 1 c.62T\u003eG (p.Leu21∗) stop gain\nPMS2a GenBank: NM_000535 1 1 c.741−742insTGAAG (p.Pro247_S248fs) frameshift\nPTEN GenBank: NM_000314 1 1 c.1003C\u003eT (p.Arg335∗) stop gain\nPTEN GenBank: NM_000314 1 1 c.697C\u003eT (p.Arg233∗) stop gain\nSDHB GenBank: NM_003000 1 1 c.223+1C\u003eA splice site (donor)\nSDHB GenBank: NM_003000 1 1 c.689G\u003eA (p.Arg230His) missense","divisions":[{"label":"tr","span":{"begin":0,"end":111}},{"label":"th","span":{"begin":0,"end":4}},{"label":"th","span":{"begin":5,"end":19}},{"label":"th","span":{"begin":20,"end":38}},{"label":"th","span":{"begin":39,"end":79}},{"label":"th","span":{"begin":80,"end":99}},{"label":"th","span":{"begin":100,"end":111}},{"label":"tr","span":{"begin":112,"end":168}},{"label":"td","span":{"begin":112,"end":115}},{"label":"td","span":{"begin":116,"end":134}},{"label":"td","span":{"begin":135,"end":136}},{"label":"td","span":{"begin":137,"end":138}},{"label":"td","span":{"begin":139,"end":158}},{"label":"td","span":{"begin":159,"end":168}},{"label":"tr","span":{"begin":169,"end":228}},{"label":"td","span":{"begin":169,"end":172}},{"label":"td","span":{"begin":173,"end":191}},{"label":"td","span":{"begin":192,"end":193}},{"label":"td","span":{"begin":194,"end":195}},{"label":"td","span":{"begin":196,"end":218}},{"label":"td","span":{"begin":219,"end":228}},{"label":"tr","span":{"begin":229,"end":287}},{"label":"td","span":{"begin":229,"end":232}},{"label":"td","span":{"begin":233,"end":251}},{"label":"td","span":{"begin":252,"end":253}},{"label":"td","span":{"begin":254,"end":255}},{"label":"td","span":{"begin":256,"end":267}},{"label":"td","span":{"begin":268,"end":287}},{"label":"tr","span":{"begin":288,"end":358}},{"label":"td","span":{"begin":288,"end":291}},{"label":"td","span":{"begin":292,"end":310}},{"label":"td","span":{"begin":311,"end":312}},{"label":"td","span":{"begin":313,"end":314}},{"label":"td","span":{"begin":315,"end":347}},{"label":"td","span":{"begin":348,"end":358}},{"label":"tr","span":{"begin":359,"end":416}},{"label":"td","span":{"begin":359,"end":362}},{"label":"td","span":{"begin":363,"end":381}},{"label":"td","span":{"begin":382,"end":383}},{"label":"td","span":{"begin":384,"end":385}},{"label":"td","span":{"begin":386,"end":406}},{"label":"td","span":{"begin":407,"end":416}},{"label":"tr","span":{"begin":417,"end":477}},{"label":"td","span":{"begin":417,"end":420}},{"label":"td","span":{"begin":421,"end":439}},{"label":"td","span":{"begin":440,"end":441}},{"label":"td","span":{"begin":442,"end":443}},{"label":"td","span":{"begin":444,"end":468}},{"label":"td","span":{"begin":469,"end":477}},{"label":"tr","span":{"begin":478,"end":540}},{"label":"td","span":{"begin":478,"end":481}},{"label":"td","span":{"begin":482,"end":500}},{"label":"td","span":{"begin":501,"end":502}},{"label":"td","span":{"begin":503,"end":504}},{"label":"td","span":{"begin":505,"end":529}},{"label":"td","span":{"begin":530,"end":540}},{"label":"tr","span":{"begin":541,"end":601}},{"label":"td","span":{"begin":541,"end":544}},{"label":"td","span":{"begin":545,"end":563}},{"label":"td","span":{"begin":564,"end":565}},{"label":"td","span":{"begin":566,"end":567}},{"label":"td","span":{"begin":568,"end":592}},{"label":"td","span":{"begin":593,"end":601}},{"label":"tr","span":{"begin":602,"end":662}},{"label":"td","span":{"begin":602,"end":605}},{"label":"td","span":{"begin":606,"end":624}},{"label":"td","span":{"begin":625,"end":626}},{"label":"td","span":{"begin":627,"end":628}},{"label":"td","span":{"begin":629,"end":653}},{"label":"td","span":{"begin":654,"end":662}},{"label":"tr","span":{"begin":663,"end":723}},{"label":"td","span":{"begin":663,"end":666}},{"label":"td","span":{"begin":667,"end":685}},{"label":"td","span":{"begin":686,"end":687}},{"label":"td","span":{"begin":688,"end":689}},{"label":"td","span":{"begin":690,"end":714}},{"label":"td","span":{"begin":715,"end":723}},{"label":"tr","span":{"begin":724,"end":785}},{"label":"td","span":{"begin":724,"end":731}},{"label":"td","span":{"begin":732,"end":750}},{"label":"td","span":{"begin":751,"end":752}},{"label":"td","span":{"begin":753,"end":754}},{"label":"td","span":{"begin":755,"end":775}},{"label":"td","span":{"begin":776,"end":785}},{"label":"tr","span":{"begin":786,"end":854}},{"label":"td","span":{"begin":786,"end":791}},{"label":"td","span":{"begin":792,"end":810}},{"label":"td","span":{"begin":811,"end":812}},{"label":"td","span":{"begin":813,"end":814}},{"label":"td","span":{"begin":815,"end":843}},{"label":"td","span":{"begin":844,"end":854}},{"label":"tr","span":{"begin":855,"end":916}},{"label":"td","span":{"begin":855,"end":860}},{"label":"td","span":{"begin":861,"end":879}},{"label":"td","span":{"begin":880,"end":881}},{"label":"td","span":{"begin":882,"end":883}},{"label":"td","span":{"begin":884,"end":906}},{"label":"td","span":{"begin":907,"end":916}},{"label":"tr","span":{"begin":917,"end":978}},{"label":"td","span":{"begin":917,"end":922}},{"label":"td","span":{"begin":923,"end":941}},{"label":"td","span":{"begin":942,"end":943}},{"label":"td","span":{"begin":944,"end":945}},{"label":"td","span":{"begin":946,"end":968}},{"label":"td","span":{"begin":969,"end":978}},{"label":"tr","span":{"begin":979,"end":1049}},{"label":"td","span":{"begin":979,"end":984}},{"label":"td","span":{"begin":985,"end":1003}},{"label":"td","span":{"begin":1004,"end":1005}},{"label":"td","span":{"begin":1006,"end":1007}},{"label":"td","span":{"begin":1008,"end":1038}},{"label":"td","span":{"begin":1039,"end":1049}},{"label":"tr","span":{"begin":1050,"end":1126}},{"label":"td","span":{"begin":1050,"end":1055}},{"label":"td","span":{"begin":1056,"end":1074}},{"label":"td","span":{"begin":1075,"end":1076}},{"label":"td","span":{"begin":1077,"end":1078}},{"label":"td","span":{"begin":1079,"end":1115}},{"label":"td","span":{"begin":1116,"end":1126}},{"label":"tr","span":{"begin":1127,"end":1196}},{"label":"td","span":{"begin":1127,"end":1132}},{"label":"td","span":{"begin":1133,"end":1151}},{"label":"td","span":{"begin":1152,"end":1153}},{"label":"td","span":{"begin":1154,"end":1155}},{"label":"td","span":{"begin":1156,"end":1185}},{"label":"td","span":{"begin":1186,"end":1196}},{"label":"tr","span":{"begin":1197,"end":1265}},{"label":"td","span":{"begin":1197,"end":1202}},{"label":"td","span":{"begin":1203,"end":1221}},{"label":"td","span":{"begin":1222,"end":1223}},{"label":"td","span":{"begin":1224,"end":1225}},{"label":"td","span":{"begin":1226,"end":1254}},{"label":"td","span":{"begin":1255,"end":1265}},{"label":"tr","span":{"begin":1266,"end":1333}},{"label":"td","span":{"begin":1266,"end":1272}},{"label":"td","span":{"begin":1273,"end":1291}},{"label":"td","span":{"begin":1292,"end":1293}},{"label":"td","span":{"begin":1294,"end":1295}},{"label":"td","span":{"begin":1296,"end":1322}},{"label":"td","span":{"begin":1323,"end":1333}},{"label":"tr","span":{"begin":1334,"end":1400}},{"label":"td","span":{"begin":1334,"end":1339}},{"label":"td","span":{"begin":1340,"end":1361}},{"label":"td","span":{"begin":1362,"end":1363}},{"label":"td","span":{"begin":1364,"end":1365}},{"label":"td","span":{"begin":1366,"end":1389}},{"label":"td","span":{"begin":1390,"end":1400}},{"label":"tr","span":{"begin":1401,"end":1468}},{"label":"td","span":{"begin":1401,"end":1406}},{"label":"td","span":{"begin":1407,"end":1428}},{"label":"td","span":{"begin":1429,"end":1431}},{"label":"td","span":{"begin":1432,"end":1433}},{"label":"td","span":{"begin":1434,"end":1457}},{"label":"td","span":{"begin":1458,"end":1468}},{"label":"tr","span":{"begin":1469,"end":1532}},{"label":"td","span":{"begin":1469,"end":1474}},{"label":"td","span":{"begin":1475,"end":1496}},{"label":"td","span":{"begin":1497,"end":1498}},{"label":"td","span":{"begin":1499,"end":1500}},{"label":"td","span":{"begin":1501,"end":1512}},{"label":"td","span":{"begin":1513,"end":1532}},{"label":"tr","span":{"begin":1533,"end":1598}},{"label":"td","span":{"begin":1533,"end":1538}},{"label":"td","span":{"begin":1539,"end":1560}},{"label":"td","span":{"begin":1561,"end":1562}},{"label":"td","span":{"begin":1563,"end":1564}},{"label":"td","span":{"begin":1565,"end":1587}},{"label":"td","span":{"begin":1588,"end":1598}},{"label":"tr","span":{"begin":1599,"end":1662}},{"label":"td","span":{"begin":1599,"end":1604}},{"label":"td","span":{"begin":1605,"end":1626}},{"label":"td","span":{"begin":1627,"end":1628}},{"label":"td","span":{"begin":1629,"end":1630}},{"label":"td","span":{"begin":1631,"end":1653}},{"label":"td","span":{"begin":1654,"end":1662}},{"label":"tr","span":{"begin":1663,"end":1721}},{"label":"td","span":{"begin":1663,"end":1667}},{"label":"td","span":{"begin":1668,"end":1686}},{"label":"td","span":{"begin":1687,"end":1688}},{"label":"td","span":{"begin":1689,"end":1690}},{"label":"td","span":{"begin":1691,"end":1711}},{"label":"td","span":{"begin":1712,"end":1721}},{"label":"tr","span":{"begin":1722,"end":1808}},{"label":"td","span":{"begin":1722,"end":1724}},{"label":"td","span":{"begin":1725,"end":1743}},{"label":"td","span":{"begin":1744,"end":1745}},{"label":"td","span":{"begin":1746,"end":1747}},{"label":"td","span":{"begin":1748,"end":1789}},{"label":"td","span":{"begin":1790,"end":1808}},{"label":"tr","span":{"begin":1809,"end":1866}},{"label":"td","span":{"begin":1809,"end":1811}},{"label":"td","span":{"begin":1812,"end":1830}},{"label":"td","span":{"begin":1831,"end":1832}},{"label":"td","span":{"begin":1833,"end":1834}},{"label":"td","span":{"begin":1835,"end":1857}},{"label":"td","span":{"begin":1858,"end":1866}},{"label":"tr","span":{"begin":1867,"end":1925}},{"label":"td","span":{"begin":1867,"end":1870}},{"label":"td","span":{"begin":1871,"end":1889}},{"label":"td","span":{"begin":1890,"end":1891}},{"label":"td","span":{"begin":1892,"end":1893}},{"label":"td","span":{"begin":1894,"end":1916}},{"label":"td","span":{"begin":1917,"end":1925}},{"label":"tr","span":{"begin":1926,"end":1982}},{"label":"td","span":{"begin":1926,"end":1929}},{"label":"td","span":{"begin":1930,"end":1948}},{"label":"td","span":{"begin":1949,"end":1950}},{"label":"td","span":{"begin":1951,"end":1952}},{"label":"td","span":{"begin":1953,"end":1972}},{"label":"td","span":{"begin":1973,"end":1982}},{"label":"tr","span":{"begin":1983,"end":2040}},{"label":"td","span":{"begin":1983,"end":1987}},{"label":"td","span":{"begin":1988,"end":2006}},{"label":"td","span":{"begin":2007,"end":2008}},{"label":"td","span":{"begin":2009,"end":2010}},{"label":"td","span":{"begin":2011,"end":2029}},{"label":"td","span":{"begin":2030,"end":2040}},{"label":"tr","span":{"begin":2041,"end":2117}},{"label":"td","span":{"begin":2041,"end":2045}},{"label":"td","span":{"begin":2046,"end":2078}},{"label":"td","span":{"begin":2079,"end":2080}},{"label":"td","span":{"begin":2081,"end":2082}},{"label":"td","span":{"begin":2083,"end":2094}},{"label":"td","span":{"begin":2095,"end":2117}},{"label":"tr","span":{"begin":2118,"end":2195}},{"label":"td","span":{"begin":2118,"end":2122}},{"label":"td","span":{"begin":2123,"end":2141}},{"label":"td","span":{"begin":2142,"end":2143}},{"label":"td","span":{"begin":2144,"end":2145}},{"label":"td","span":{"begin":2146,"end":2184}},{"label":"td","span":{"begin":2185,"end":2195}},{"label":"tr","span":{"begin":2196,"end":2266}},{"label":"td","span":{"begin":2196,"end":2199}},{"label":"td","span":{"begin":2200,"end":2221}},{"label":"td","span":{"begin":2222,"end":2223}},{"label":"td","span":{"begin":2224,"end":2225}},{"label":"td","span":{"begin":2226,"end":2255}},{"label":"td","span":{"begin":2256,"end":2266}},{"label":"tr","span":{"begin":2267,"end":2332}},{"label":"td","span":{"begin":2267,"end":2270}},{"label":"td","span":{"begin":2271,"end":2292}},{"label":"td","span":{"begin":2293,"end":2294}},{"label":"td","span":{"begin":2295,"end":2296}},{"label":"td","span":{"begin":2297,"end":2321}},{"label":"td","span":{"begin":2322,"end":2332}},{"label":"tr","span":{"begin":2333,"end":2398}},{"label":"td","span":{"begin":2333,"end":2336}},{"label":"td","span":{"begin":2337,"end":2358}},{"label":"td","span":{"begin":2359,"end":2360}},{"label":"td","span":{"begin":2361,"end":2362}},{"label":"td","span":{"begin":2363,"end":2387}},{"label":"td","span":{"begin":2388,"end":2398}},{"label":"tr","span":{"begin":2399,"end":2469}},{"label":"td","span":{"begin":2399,"end":2402}},{"label":"td","span":{"begin":2403,"end":2424}},{"label":"td","span":{"begin":2425,"end":2426}},{"label":"td","span":{"begin":2427,"end":2428}},{"label":"td","span":{"begin":2429,"end":2458}},{"label":"td","span":{"begin":2459,"end":2469}},{"label":"tr","span":{"begin":2470,"end":2529}},{"label":"td","span":{"begin":2470,"end":2476}},{"label":"td","span":{"begin":2477,"end":2495}},{"label":"td","span":{"begin":2496,"end":2497}},{"label":"td","span":{"begin":2498,"end":2499}},{"label":"td","span":{"begin":2500,"end":2519}},{"label":"td","span":{"begin":2520,"end":2529}},{"label":"tr","span":{"begin":2530,"end":2591}},{"label":"td","span":{"begin":2530,"end":2535}},{"label":"td","span":{"begin":2536,"end":2554}},{"label":"td","span":{"begin":2555,"end":2556}},{"label":"td","span":{"begin":2557,"end":2558}},{"label":"td","span":{"begin":2559,"end":2581}},{"label":"td","span":{"begin":2582,"end":2591}},{"label":"tr","span":{"begin":2592,"end":2656}},{"label":"td","span":{"begin":2592,"end":2597}},{"label":"td","span":{"begin":2598,"end":2616}},{"label":"td","span":{"begin":2617,"end":2618}},{"label":"td","span":{"begin":2619,"end":2620}},{"label":"td","span":{"begin":2621,"end":2645}},{"label":"td","span":{"begin":2646,"end":2656}},{"label":"tr","span":{"begin":2657,"end":2714}},{"label":"td","span":{"begin":2657,"end":2662}},{"label":"td","span":{"begin":2663,"end":2681}},{"label":"td","span":{"begin":2682,"end":2683}},{"label":"td","span":{"begin":2684,"end":2685}},{"label":"td","span":{"begin":2686,"end":2704}},{"label":"td","span":{"begin":2705,"end":2714}},{"label":"tr","span":{"begin":2715,"end":2790}},{"label":"td","span":{"begin":2715,"end":2720}},{"label":"td","span":{"begin":2721,"end":2739}},{"label":"td","span":{"begin":2740,"end":2741}},{"label":"td","span":{"begin":2742,"end":2743}},{"label":"td","span":{"begin":2744,"end":2779}},{"label":"td","span":{"begin":2780,"end":2790}},{"label":"tr","span":{"begin":2791,"end":2850}},{"label":"td","span":{"begin":2791,"end":2795}},{"label":"td","span":{"begin":2796,"end":2814}},{"label":"td","span":{"begin":2815,"end":2816}},{"label":"td","span":{"begin":2817,"end":2818}},{"label":"td","span":{"begin":2819,"end":2840}},{"label":"td","span":{"begin":2841,"end":2850}},{"label":"tr","span":{"begin":2851,"end":2909}},{"label":"td","span":{"begin":2851,"end":2855}},{"label":"td","span":{"begin":2856,"end":2874}},{"label":"td","span":{"begin":2875,"end":2876}},{"label":"td","span":{"begin":2877,"end":2878}},{"label":"td","span":{"begin":2879,"end":2899}},{"label":"td","span":{"begin":2900,"end":2909}},{"label":"tr","span":{"begin":2910,"end":2968}},{"label":"td","span":{"begin":2910,"end":2914}},{"label":"td","span":{"begin":2915,"end":2933}},{"label":"td","span":{"begin":2934,"end":2935}},{"label":"td","span":{"begin":2936,"end":2937}},{"label":"td","span":{"begin":2938,"end":2948}},{"label":"td","span":{"begin":2949,"end":2968}},{"label":"td","span":{"begin":2969,"end":2973}},{"label":"td","span":{"begin":2974,"end":2992}},{"label":"td","span":{"begin":2993,"end":2994}},{"label":"td","span":{"begin":2995,"end":2996}},{"label":"td","span":{"begin":2997,"end":3019}}],"tracks":[]}