Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32370402_32380145del | CA2581463483 | BRCA2 | c.8332_9256del c.8332_*623del c.7963_8887del c.8332_*818del c.8332_9205del c.799_1672del c.8340_9264del c.897_2134del c.8236_9160del | |
13 | g.32378158_32383530del | CA2580087446 | BRCA2 | c.8755-1159_9256+3385del c.*122-1159_*623+3385del c.8386-1159_8887+3385del c.*317-1159_*818+3385del c.8755-1159_9257-363del c.8755-1159_9205+3385del c.1222-1159_1672+3385del n.882-1159_1383+3385del c.8763-1159_9264+3385del c.1633-1159_2134+3385del c.8659-1159_9160+3385del | ClinVar |
13 | g.32378942_32380826del | CA10602552 | BRCA2 | c.8755-375_9256+681del c.*122-375_*623+681del c.8386-375_8887+681del c.*317-375_*818+681del c.8755-375_9205+681del c.1222-375_1672+681del n.882-375_1383+681del c.8763-375_9264+681del c.1633-375_2134+681del c.8659-375_9160+681del | ClinVar |
13 | g.32379315_32379819del | CA2499222346 | BRCA2 | c.8755-2_9023del c.*122-2_*390del c.8386-2_8654del c.*317-2_*585del c.8755-2_8972del c.1222-2_1439del n.882-2_1150del c.8763-2_9031del c.1633-2_1901del c.8659-2_8927del c.8755-435_*61del | ClinVar dbSNP |
13 | g.32379740_32380024delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA | CA2082837297 | BRCA2 | c.8954-10_9135delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.*321-10_*502delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.8585-10_8766delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.*516-10_*697delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.8954-61_9084delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.1421-61_1551delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA n.1081-10_1262delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.8962-10_9143delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.1832-10_2013delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA c.8858-10_9039delinsCTCCAAACAGTTATACTGAGTATTTGGCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAACTCAGTATCAACAACTACCGGTACAAACCTTTCATTGTAATTTTTCAGTTTTGATAAGTGCTTGTTAGTTTATGGAATCTCCATATGTTGAATTTTTGTTTTGTTTTCTGTAGGTTTCAGATGAAATTTTA | |
13 | g.32379742_32380025del | CA645369604 | BRCA2 | c.8954-8_9136del c.*321-8_*503del c.8585-8_8767del c.*516-8_*698del c.8954-59_9085del c.1421-59_1552del n.1081-8_1263del c.8962-8_9144del c.1832-8_2014del c.8858-8_9040del | ClinVar dbSNP |
13 | g.32379767_32379893delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA | CA2082837585 | BRCA2 | c.8971_9097delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA (p.Arg2991=) c.*338_*464delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA (n.*338_*464delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA) c.8602_8728delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA (p.Arg2868=) c.*533_*659delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA (n.*533_*659delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA) c.8954-34_9046delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA c.1421-34_1513delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA n.1098_1224delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA c.8979_9105delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA (n.8979_9105delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA) c.1849_1975delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA c.8875_9001delinsCGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAA (p.Arg2959=) | |
13 | g.32379768_32379893del | CA10602556 | BRCA2 | c.8972_9097del (p.Arg2991_Thr3033delinsPro) c.*339_*464del (n.*339_*464del) c.8603_8728del (p.Arg2868_Thr2910delinsPro) c.*534_*659del (n.*534_*659del) c.8954-33_9046del c.1421-33_1513del n.1099_1224del c.8980_9105del (n.8980_9105del) c.1850_1975del c.8876_9001del (p.Arg2959_Thr3001delinsPro) | ClinVar dbSNP |
13 | g.32379768_32379894delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC | CA2082837616 | BRCA2 | c.8972_9098delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC (p.Arg2991=) c.*339_*465delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC (n.*339_*465delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC) c.8603_8729delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC (p.Arg2868=) c.*534_*660delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC (n.*534_*660delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC) c.8954-33_9047delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC c.1421-33_1514delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC n.1099_1225delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC c.8980_9106delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC (n.8980_9106delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC) c.1850_1976delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC c.8876_9002delinsGTCCATCATCAGATTTATATTCTCTGTTAACAGAAGGAAAGAGATACAGAATTTATCATCTTGCAACTTCAAAATCTAAAAGTAAATCTGAAAGAGCTAACATACAGTTAGCAGCGACAAAAAAAAC (p.Arg2959=) | |
13 | g.32379771_32379896del | CA025906 | BRCA2 | c.8975_9100del (p.Pro2992_Thr3033del) c.*342_*467del (n.*342_*467del) c.8606_8731del (p.Pro2869_Thr2910del) c.*537_*662del (n.*537_*662del) c.8954-30_9049del c.1421-30_1516del n.1102_1227del c.8983_9108del (n.8983_9108del) c.1853_1978del c.8879_9004del (p.Pro2960_Thr3001del) | ClinVar dbSNP |
13 | g.32379771_32379894del | CA2499222357 | BRCA2 | c.8975_9098del (p.Pro2992LeufsTer29) c.*342_*465del (n.*342_*465del) c.8606_8729del (p.Pro2869LeufsTer29) c.*537_*660del (n.*537_*660del) c.8954-30_9047del c.1421-30_1514del n.1102_1225del c.8983_9106del (n.8983_9106del) c.1853_1976del c.8879_9002del (p.Pro2960LeufsTer29) | dbSNP |
13 | g.32379785_32379817delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA | CA2082837827 | BRCA2 | c.8989_9021delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA (p.Tyr2997=) c.*356_*388delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA (n.*356_*388delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA) c.8620_8652delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA (p.Tyr2874=) c.*551_*583delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA (n.*551_*583delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA) c.8954-16_8970delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA c.1421-16_1437delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA n.1116_1148delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA c.8997_9029delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA (n.8997_9029delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA) c.1867_1899delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA c.8893_8925delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA (p.Tyr2965=) c.*27_*59delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA (n.*27_*59delinsTATTCTCTGTTAACAGAAGGAAAGAGATACAGA) | |
13 | g.32379786_32379818del | CA2695217959 | BRCA2 | c.8990_9022del (p.Tyr2997_Ile3008delinsPhe) c.*357_*389del (n.*357_*389del) c.8621_8653del (p.Tyr2874_Ile2885delinsPhe) c.*552_*584del (n.*552_*584del) c.8954-15_8971del c.1421-15_1438del n.1117_1149del c.8998_9030del (n.8998_9030del) c.1868_1900del c.8894_8926del (p.Tyr2965_Ile2976delinsPhe) c.*28_*60del (n.*28_*60del) | |
13 | g.32379786_32379820delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT | CA2082837848 | BRCA2 | c.8990_9024delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT (p.Tyr2997=) c.*357_*391delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT (n.*357_*391delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT) c.8621_8655delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT (p.Tyr2874=) c.*552_*586delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT (n.*552_*586delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT) c.8954-15_8973delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT c.1421-15_1440delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT n.1117_1151delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT c.8998_9032delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT (n.8998_9032delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT) c.1868_1902delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT c.8894_8928delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT (p.Tyr2965=) c.*28_*62delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT (n.*28_*62delinsATTCTCTGTTAACAGAAGGAAAGAGATACAGAATT) | |
13 | g.32379789_32379820del | CA10589536 | BRCA2 | c.8993_9024del (p.Ser2998LeufsTer9) c.*360_*391del (n.*360_*391del) c.8624_8655del (p.Ser2875LeufsTer9) c.*555_*586del (n.*555_*586del) c.8954-12_8973del c.1421-12_1440del n.1120_1151del c.9001_9032del (n.9001_9032del) c.1871_1902del c.8897_8928del (p.Ser2966LeufsTer9) c.*31_*62del (n.*31_*62del) | ClinVar dbSNP |
13 | g.32379788_32379821del | CA658683857 | BRCA2 | c.8992_9025del (p.Ser2998IlefsTer19) c.*359_*392del (n.*359_*392del) c.8623_8656del (p.Ser2875IlefsTer19) c.*554_*587del (n.*554_*587del) c.8954-13_8974del c.1421-13_1441del n.1119_1152del c.9000_9033del (n.9000_9033del) c.1870_1903del c.8896_8929del (p.Ser2966IlefsTer19) c.*30_*63del (n.*30_*63del) | ClinVar dbSNP |
13 | g.32379832_32379833insTGATACAGAATTTATCATCTTGCA | CA2573149234 | BRCA2 | c.9036_9037insTGATACAGAATTTATCATCTTGCA c.*403_*404insTGATACAGAATTTATCATCTTGCA (n.*403_*404insTGATACAGAATTTATCATCTTGCA) c.8667_8668insTGATACAGAATTTATCATCTTGCA c.*598_*599insTGATACAGAATTTATCATCTTGCA (n.*598_*599insTGATACAGAATTTATCATCTTGCA) c.8985_8986insTGATACAGAATTTATCATCTTGCA c.1452_1453insTGATACAGAATTTATCATCTTGCA n.1163_1164insTGATACAGAATTTATCATCTTGCA c.9044_9045insTGATACAGAATTTATCATCTTGCA (n.9044_9045insTGATACAGAATTTATCATCTTGCA) c.1914_1915insTGATACAGAATTTATCATCTTGCA c.8940_8941insTGATACAGAATTTATCATCTTGCA c.*74_*75insTGATACAGAATTTATCATCTTGCA (n.*74_*75insTGATACAGAATTTATCATCTTGCA) | ClinVar dbSNP |
13 | g.32379812_32379817delinsTACAGA | CA2082838154 | BRCA2 | c.9016_9021delinsTACAGA (p.Tyr3006=) c.*383_*388delinsTACAGA (n.*383_*388delinsTACAGA) c.8647_8652delinsTACAGA (p.Tyr2883=) c.*578_*583delinsTACAGA (n.*578_*583delinsTACAGA) c.8965_8970delinsTACAGA (p.Tyr2989=) c.1432_1437delinsTACAGA (p.Tyr478=) n.1143_1148delinsTACAGA c.9024_9029delinsTACAGA (n.9024_9029delinsTACAGA) c.1894_1899delinsTACAGA c.8920_8925delinsTACAGA (p.Tyr2974=) c.*54_*59delinsTACAGA (n.*54_*59delinsTACAGA) | |
13 | g.32379814_32379818del | CA645372937 | BRCA2 | c.9018_9022del (p.Arg3007LeufsTer9) c.*385_*389del (n.*385_*389del) c.8649_8653del (p.Arg2884LeufsTer9) c.*580_*584del (n.*580_*584del) c.8967_8971del (p.Arg2990LeufsTer9) c.1434_1438del (p.Arg479LeufsTer9) n.1145_1149del c.9026_9030del (n.9026_9030del) c.1896_1900del c.8922_8926del (p.Arg2975LeufsTer9) c.*56_*60del (n.*56_*60del) | ClinVar dbSNP |
13 | g.32379814C>A | CA025930 | BRCA2 | c.9018C>A (p.Tyr3006Ter) c.*385C>A (n.*385C>A) c.8649C>A (p.Tyr2883Ter) c.*580C>A (n.*580C>A) c.8967C>A (p.Tyr2989Ter) c.1434C>A (p.Tyr478Ter) n.1145C>A c.9026C>A (n.9026C>A) c.1896C>A c.8922C>A (p.Tyr2974Ter) c.*56C>A (n.*56C>A) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32379814C= | CA2082838174 | BRCA2 | c.9018C= (p.Tyr3006=) c.*385C= (n.*385C=) c.8649C= (p.Tyr2883=) c.*580C= (n.*580C=) c.8967C= (p.Tyr2989=) c.1434C= (p.Tyr478=) n.1145C= c.9026C= (n.9026C=) c.1896C= c.8922C= (p.Tyr2974=) c.*56C= (n.*56C=) | |
13 | g.32379814C>G | CA387757478 | BRCA2 | c.9018C>G (p.Tyr3006Ter) c.*385C>G (n.*385C>G) c.8649C>G (p.Tyr2883Ter) c.*580C>G (n.*580C>G) c.8967C>G (p.Tyr2989Ter) c.1434C>G (p.Tyr478Ter) n.1145C>G c.9026C>G (n.9026C>G) c.1896C>G c.8922C>G (p.Tyr2974Ter) c.*56C>G (n.*56C>G) | ClinVar dbSNP |
13 | g.32379814C>T | CA483439842 | BRCA2 | c.9018C>T (p.Tyr3006=) c.*385C>T (n.*385C>T) c.8649C>T (p.Tyr2883=) c.*580C>T (n.*580C>T) c.8967C>T (p.Tyr2989=) c.1434C>T (p.Tyr478=) n.1145C>T c.9026C>T (n.9026C>T) c.1896C>T c.8922C>T (p.Tyr2974=) c.*56C>T (n.*56C>T) | dbSNP |
13 | g.32379814_32379815insTCTA | CA025929 | BRCA2 | c.9018_9019insTCTA (p.Arg3007SerfsTer12) c.*385_*386insTCTA (n.*385_*386insTCTA) c.8649_8650insTCTA (p.Arg2884SerfsTer12) c.*580_*581insTCTA (n.*580_*581insTCTA) c.8967_8968insTCTA (p.Arg2990SerfsTer12) c.1434_1435insTCTA (p.Arg479SerfsTer12) n.1145_1146insTCTA c.9026_9027insTCTA (n.9026_9027insTCTA) c.1896_1897insTCTA c.8922_8923insTCTA (p.Arg2975SerfsTer12) c.*56_*57insTCTA (n.*56_*57insTCTA) | ClinVar dbSNP |
13 | g.32379815A= | CA2082838198 | BRCA2 | c.9019A= (p.Arg3007=) c.*386A= (n.*386A=) c.8650A= (p.Arg2884=) c.*581A= (n.*581A=) c.8968A= (p.Arg2990=) c.1435A= (p.Arg479=) n.1146A= c.9027A= (n.9027A=) c.1897A= c.8923A= (p.Arg2975=) c.*57A= (n.*57A=) | |
13 | g.32379815A>C | CA483439843 | BRCA2 | c.9019A>C (p.Arg3007=) c.*386A>C (n.*386A>C) c.8650A>C (p.Arg2884=) c.*581A>C (n.*581A>C) c.8968A>C (p.Arg2990=) c.1435A>C (p.Arg479=) n.1146A>C c.9027A>C (n.9027A>C) c.1897A>C c.8923A>C (p.Arg2975=) c.*57A>C (n.*57A>C) | ClinVar dbSNP |
13 | g.32379815A>G | CA025931 | BRCA2 | c.9019A>G (p.Arg3007Gly) c.*386A>G (n.*386A>G) c.8650A>G (p.Arg2884Gly) c.*581A>G (n.*581A>G) c.8968A>G (p.Arg2990Gly) c.1435A>G (p.Arg479Gly) n.1146A>G c.9027A>G (n.9027A>G) c.1897A>G c.8923A>G (p.Arg2975Gly) c.*57A>G (n.*57A>G) | ClinVar dbSNP gnomAD v4 |
13 | g.32379815A>T | CA387757479 | BRCA2 | c.9019A>T (p.Arg3007Ter) c.*386A>T (n.*386A>T) c.8650A>T (p.Arg2884Ter) c.*581A>T (n.*581A>T) c.8968A>T (p.Arg2990Ter) c.1435A>T (p.Arg479Ter) n.1146A>T c.9027A>T (n.9027A>T) c.1897A>T c.8923A>T (p.Arg2975Ter) c.*57A>T (n.*57A>T) | |
13 | g.32379815_32379816insTCTA | CA10589538 | BRCA2 | c.9019_9020insTCTA (p.Arg3007IlefsTer2) c.*386_*387insTCTA (n.*386_*387insTCTA) c.8650_8651insTCTA (p.Arg2884IlefsTer2) c.*581_*582insTCTA (n.*581_*582insTCTA) c.8968_8969insTCTA (p.Arg2990IlefsTer2) c.1435_1436insTCTA (p.Arg479IlefsTer2) n.1146_1147insTCTA c.9027_9028insTCTA (n.9027_9028insTCTA) c.1897_1898insTCTA c.8923_8924insTCTA (p.Arg2975IlefsTer2) c.*57_*58insTCTA (n.*57_*58insTCTA) | ClinVar dbSNP |
13 | g.32379816G>A | CA10575934 | BRCA2 | c.9020G>A (p.Arg3007Lys) c.*387G>A (n.*387G>A) c.8651G>A (p.Arg2884Lys) c.*582G>A (n.*582G>A) c.8969G>A (p.Arg2990Lys) c.1436G>A (p.Arg479Lys) n.1147G>A c.9028G>A (n.9028G>A) c.1898G>A c.8924G>A (p.Arg2975Lys) c.*58G>A (n.*58G>A) | ClinVar dbSNP |
13 | g.32379816G>C | CA387757480 | BRCA2 | c.9020G>C (p.Arg3007Thr) c.*387G>C (n.*387G>C) c.8651G>C (p.Arg2884Thr) c.*582G>C (n.*582G>C) c.8969G>C (p.Arg2990Thr) c.1436G>C (p.Arg479Thr) n.1147G>C c.9028G>C (n.9028G>C) c.1898G>C c.8924G>C (p.Arg2975Thr) c.*58G>C (n.*58G>C) | dbSNP |
13 | g.32379816G= | CA2082838226 | BRCA2 | c.9020G= (p.Arg3007=) c.*387G= (n.*387G=) c.8651G= (p.Arg2884=) c.*582G= (n.*582G=) c.8969G= (p.Arg2990=) c.1436G= (p.Arg479=) n.1147G= c.9028G= (n.9028G=) c.1898G= c.8924G= (p.Arg2975=) c.*58G= (n.*58G=) | |
13 | g.32379816G>T | CA387757481 | BRCA2 | c.9020G>T (p.Arg3007Ile) c.*387G>T (n.*387G>T) c.8651G>T (p.Arg2884Ile) c.*582G>T (n.*582G>T) c.8969G>T (p.Arg2990Ile) c.1436G>T (p.Arg479Ile) n.1147G>T c.9028G>T (n.9028G>T) c.1898G>T c.8924G>T (p.Arg2975Ile) c.*58G>T (n.*58G>T) | COSMIC COSMIC |
13 | g.32379816_32379839delinsGAATTTATCATCTTGCAACTTCAA | CA2082838223 | BRCA2 | c.9020_9043delinsGAATTTATCATCTTGCAACTTCAA (p.Arg3007=) c.*387_*410delinsGAATTTATCATCTTGCAACTTCAA (n.*387_*410delinsGAATTTATCATCTTGCAACTTCAA) c.8651_8674delinsGAATTTATCATCTTGCAACTTCAA (p.Arg2884=) c.*582_*605delinsGAATTTATCATCTTGCAACTTCAA (n.*582_*605delinsGAATTTATCATCTTGCAACTTCAA) c.8969_8992delinsGAATTTATCATCTTGCAACTTCAA (p.Arg2990=) c.1436_1459delinsGAATTTATCATCTTGCAACTTCAA (p.Arg479=) n.1147_1170delinsGAATTTATCATCTTGCAACTTCAA c.9028_9051delinsGAATTTATCATCTTGCAACTTCAA (n.9028_9051delinsGAATTTATCATCTTGCAACTTCAA) c.1898_1921delinsGAATTTATCATCTTGCAACTTCAA c.8924_8947delinsGAATTTATCATCTTGCAACTTCAA (p.Arg2975=) c.*58_*81delinsGAATTTATCATCTTGCAACTTCAA (n.*58_*81delinsGAATTTATCATCTTGCAACTTCAA) | |
13 | g.32379817A>C | CA387757482 | BRCA2 | c.9021A>C (p.Arg3007Ser) c.*388A>C (n.*388A>C) c.8652A>C (p.Arg2884Ser) c.*583A>C (n.*583A>C) c.8970A>C (p.Arg2990Ser) c.1437A>C (p.Arg479Ser) n.1148A>C c.9029A>C (n.9029A>C) c.1899A>C c.8925A>C (p.Arg2975Ser) c.*59A>C (n.*59A>C) | |
13 | g.32379817A>G | CA483439844 | BRCA2 | c.9021A>G (p.Arg3007=) c.*388A>G (n.*388A>G) c.8652A>G (p.Arg2884=) c.*583A>G (n.*583A>G) c.8970A>G (p.Arg2990=) c.1437A>G (p.Arg479=) n.1148A>G c.9029A>G (n.9029A>G) c.1899A>G c.8925A>G (p.Arg2975=) c.*59A>G (n.*59A>G) | ClinVar |
13 | g.32379817A>T | CA387757483 | BRCA2 | c.9021A>T (p.Arg3007Ser) c.*388A>T (n.*388A>T) c.8652A>T (p.Arg2884Ser) c.*583A>T (n.*583A>T) c.8970A>T (p.Arg2990Ser) c.1437A>T (p.Arg479Ser) n.1148A>T c.9029A>T (n.9029A>T) c.1899A>T c.8925A>T (p.Arg2975Ser) c.*59A>T (n.*59A>T) | |
13 | g.32379820_32379842del | CA10589539 | BRCA2 | c.9024_9046del (p.Tyr3009Ter) c.*391_*413del (n.*391_*413del) c.8655_8677del (p.Tyr2886Ter) c.*586_*608del (n.*586_*608del) c.8973_8995del (p.Tyr2992Ter) c.1440_1462del (p.Tyr481Ter) n.1151_1173del c.9032_9054del (n.9032_9054del) c.1902_1924del c.8928_8950del (p.Tyr2977Ter) c.*62_*84del (n.*62_*84del) | ClinVar dbSNP |
13 | g.32379818A= | CA2082838243 | BRCA2 | c.9022A= (p.Ile3008=) c.*389A= (n.*389A=) c.8653A= (p.Ile2885=) c.*584A= (n.*584A=) c.8971A= (p.Ile2991=) c.1438A= (p.Ile480=) n.1149A= c.9030A= (n.9030A=) c.1900A= c.8926A= (p.Ile2976=) c.*60A= (n.*60A=) | |
13 | g.32379818A>C | CA387757484 | BRCA2 | c.9022A>C (p.Ile3008Leu) c.*389A>C (n.*389A>C) c.8653A>C (p.Ile2885Leu) c.*584A>C (n.*584A>C) c.8971A>C (p.Ile2991Leu) c.1438A>C (p.Ile480Leu) n.1149A>C c.9030A>C (n.9030A>C) c.1900A>C c.8926A>C (p.Ile2976Leu) c.*60A>C (n.*60A>C) | dbSNP |
13 | g.32379818A>G | CA350473 | BRCA2 | c.9022A>G (p.Ile3008Val) c.*389A>G (n.*389A>G) c.8653A>G (p.Ile2885Val) c.*584A>G (n.*584A>G) c.8971A>G (p.Ile2991Val) c.1438A>G (p.Ile480Val) n.1149A>G c.9030A>G (n.9030A>G) c.1900A>G c.8926A>G (p.Ile2976Val) c.*60A>G (n.*60A>G) | ClinVar dbSNP |
13 | g.32379818A>T | CA387757485 | BRCA2 | c.9022A>T (p.Ile3008Phe) c.*389A>T (n.*389A>T) c.8653A>T (p.Ile2885Phe) c.*584A>T (n.*584A>T) c.8971A>T (p.Ile2991Phe) c.1438A>T (p.Ile480Phe) n.1149A>T c.9030A>T (n.9030A>T) c.1900A>T c.8926A>T (p.Ile2976Phe) c.*60A>T (n.*60A>T) | ClinVar dbSNP |
13 | g.32379818_32379819delinsAT | CA2082838242 | BRCA2 | c.9022_9023delinsAT (p.Ile3008=) c.*389_*390delinsAT (n.*389_*390delinsAT) c.8653_8654delinsAT (p.Ile2885=) c.*584_*585delinsAT (n.*584_*585delinsAT) c.8971_8972delinsAT (p.Ile2991=) c.1438_1439delinsAT (p.Ile480=) n.1149_1150delinsAT c.9030_9031delinsAT (n.9030_9031delinsAT) c.1900_1901delinsAT c.8926_8927delinsAT (p.Ile2976=) c.*60_*61delinsAT (n.*60_*61delinsAT) | |
13 | g.32379819T>A | CA387757486 | BRCA2 | c.9023T>A (p.Ile3008Asn) c.*390T>A (n.*390T>A) c.8654T>A (p.Ile2885Asn) c.*585T>A (n.*585T>A) c.8972T>A (p.Ile2991Asn) c.1439T>A (p.Ile480Asn) n.1150T>A c.9031T>A (n.9031T>A) c.1901T>A c.8927T>A (p.Ile2976Asn) c.*61T>A (n.*61T>A) | dbSNP |
13 | g.32379819T>C | CA387757487 | BRCA2 | c.9023T>C (p.Ile3008Thr) c.*390T>C (n.*390T>C) c.8654T>C (p.Ile2885Thr) c.*585T>C (n.*585T>C) c.8972T>C (p.Ile2991Thr) c.1439T>C (p.Ile480Thr) n.1150T>C c.9031T>C (n.9031T>C) c.1901T>C c.8927T>C (p.Ile2976Thr) c.*61T>C (n.*61T>C) | |
13 | g.32379819T>G | CA387757488 | BRCA2 | c.9023T>G (p.Ile3008Ser) c.*390T>G (n.*390T>G) c.8654T>G (p.Ile2885Ser) c.*585T>G (n.*585T>G) c.8972T>G (p.Ile2991Ser) c.1439T>G (p.Ile480Ser) n.1150T>G c.9031T>G (n.9031T>G) c.1901T>G c.8927T>G (p.Ile2976Ser) c.*61T>G (n.*61T>G) | |
13 | g.32379821dup | CA10589540 | BRCA2 | c.9025dup (p.Tyr3009LeufsTer9) c.*392dup (n.*392dup) c.8656dup (p.Tyr2886LeufsTer9) c.*587dup (n.*587dup) c.8974dup (p.Tyr2992LeufsTer9) c.1441dup (p.Tyr481LeufsTer9) n.1152dup c.9033dup (n.9033dup) c.1903dup c.8929dup (p.Tyr2977LeufsTer9) c.*63dup (n.*63dup) | ClinVar dbSNP |
13 | g.32379821del | CA025932 | BRCA2 | c.9025del (p.Tyr3009IlefsTer19) c.*392del (n.*392del) c.8656del (p.Tyr2886IlefsTer19) c.*587del (n.*587del) c.8974del (p.Tyr2992IlefsTer19) c.1441del (p.Tyr481IlefsTer19) n.1152del c.9033del (n.9033del) c.1903del c.8929del (p.Tyr2977IlefsTer19) c.*63del (n.*63del) | ClinVar dbSNP |
13 | g.32379820T>A | CA483439845 | BRCA2 | c.9024T>A (p.Ile3008=) c.*391T>A (n.*391T>A) c.8655T>A (p.Ile2885=) c.*586T>A (n.*586T>A) c.8973T>A (p.Ile2991=) c.1440T>A (p.Ile480=) n.1151T>A c.9032T>A (n.9032T>A) c.1902T>A c.8928T>A (p.Ile2976=) c.*62T>A (n.*62T>A) | dbSNP |
13 | g.32379820T>C | CA483439846 | BRCA2 | c.9024T>C (p.Ile3008=) c.*391T>C (n.*391T>C) c.8655T>C (p.Ile2885=) c.*586T>C (n.*586T>C) c.8973T>C (p.Ile2991=) c.1440T>C (p.Ile480=) n.1151T>C c.9032T>C (n.9032T>C) c.1902T>C c.8928T>C (p.Ile2976=) c.*62T>C (n.*62T>C) | |
13 | g.32379820T>G | CA387757489 | BRCA2 | c.9024T>G (p.Ile3008Met) c.*391T>G (n.*391T>G) c.8655T>G (p.Ile2885Met) c.*586T>G (n.*586T>G) c.8973T>G (p.Ile2991Met) c.1440T>G (p.Ile480Met) n.1151T>G c.9032T>G (n.9032T>G) c.1902T>G c.8928T>G (p.Ile2976Met) c.*62T>G (n.*62T>G) | ClinVar |
13 | g.32379820_32379825delinsTTATCA | CA2082838260 | BRCA2 | c.9024_9029delinsTTATCA (p.Ile3008=) c.*391_*396delinsTTATCA (n.*391_*396delinsTTATCA) c.8655_8660delinsTTATCA (p.Ile2885=) c.*586_*591delinsTTATCA (n.*586_*591delinsTTATCA) c.8973_8978delinsTTATCA (p.Ile2991=) c.1440_1445delinsTTATCA (p.Ile480=) n.1151_1156delinsTTATCA c.9032_9037delinsTTATCA (n.9032_9037delinsTTATCA) c.1902_1907delinsTTATCA c.8928_8933delinsTTATCA (p.Ile2976=) c.*62_*67delinsTTATCA (n.*62_*67delinsTTATCA) | |
13 | g.32379821T>A | CA387757490 | BRCA2 | c.9025T>A (p.Tyr3009Asn) c.*392T>A (n.*392T>A) c.8656T>A (p.Tyr2886Asn) c.*587T>A (n.*587T>A) c.8974T>A (p.Tyr2992Asn) c.1441T>A (p.Tyr481Asn) n.1152T>A c.9033T>A (n.9033T>A) c.1903T>A c.8929T>A (p.Tyr2977Asn) c.*63T>A (n.*63T>A) | dbSNP |
13 | g.32379821T>C | CA387757491 | BRCA2 | c.9025T>C (p.Tyr3009His) c.*392T>C (n.*392T>C) c.8656T>C (p.Tyr2886His) c.*587T>C (n.*587T>C) c.8974T>C (p.Tyr2992His) c.1441T>C (p.Tyr481His) n.1152T>C c.9033T>C (n.9033T>C) c.1903T>C c.8929T>C (p.Tyr2977His) c.*63T>C (n.*63T>C) | |
13 | g.32379821T>G | CA387757492 | BRCA2 | c.9025T>G (p.Tyr3009Asp) c.*392T>G (n.*392T>G) c.8656T>G (p.Tyr2886Asp) c.*587T>G (n.*587T>G) c.8974T>G (p.Tyr2992Asp) c.1441T>G (p.Tyr481Asp) n.1152T>G c.9033T>G (n.9033T>G) c.1903T>G c.8929T>G (p.Tyr2977Asp) c.*63T>G (n.*63T>G) | |
13 | g.32379822_32379826del | CA025933 | BRCA2 | c.9026_9030del (p.Tyr3009SerfsTer7) c.*393_*397del (n.*393_*397del) c.8657_8661del (p.Tyr2886SerfsTer7) c.*588_*592del (n.*588_*592del) c.8975_8979del (p.Tyr2992SerfsTer7) c.1442_1446del (p.Tyr481SerfsTer7) n.1153_1157del c.9034_9038del (n.9034_9038del) c.1904_1908del c.8930_8934del (p.Tyr2977SerfsTer7) c.*64_*68del (n.*64_*68del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32379822A>C | CA387757494 | BRCA2 | c.9026A>C (p.Tyr3009Ser) c.*393A>C (n.*393A>C) c.8657A>C (p.Tyr2886Ser) c.*588A>C (n.*588A>C) c.8975A>C (p.Tyr2992Ser) c.1442A>C (p.Tyr481Ser) n.1153A>C c.9034A>C (n.9034A>C) c.1904A>C c.8930A>C (p.Tyr2977Ser) c.*64A>C (n.*64A>C) | |
13 | g.32379822A>G | CA387757495 | BRCA2 | c.9026A>G (p.Tyr3009Cys) c.*393A>G (n.*393A>G) c.8657A>G (p.Tyr2886Cys) c.*588A>G (n.*588A>G) c.8975A>G (p.Tyr2992Cys) c.1442A>G (p.Tyr481Cys) n.1153A>G c.9034A>G (n.9034A>G) c.1904A>G c.8930A>G (p.Tyr2977Cys) c.*64A>G (n.*64A>G) | ClinVar |
13 | g.32379822A>T | CA387757493 | BRCA2 | c.9026A>T (p.Tyr3009Phe) c.*393A>T (n.*393A>T) c.8657A>T (p.Tyr2886Phe) c.*588A>T (n.*588A>T) c.8975A>T (p.Tyr2992Phe) c.1442A>T (p.Tyr481Phe) n.1153A>T c.9034A>T (n.9034A>T) c.1904A>T c.8930A>T (p.Tyr2977Phe) c.*64A>T (n.*64A>T) | dbSNP |
13 | g.32379822_32379823delinsAT | CA2082838270 | BRCA2 | c.9026_9027delinsAT (p.Tyr3009=) c.*393_*394delinsAT (n.*393_*394delinsAT) c.8657_8658delinsAT (p.Tyr2886=) c.*588_*589delinsAT (n.*588_*589delinsAT) c.8975_8976delinsAT (p.Tyr2992=) c.1442_1443delinsAT (p.Tyr481=) n.1153_1154delinsAT c.9034_9035delinsAT (n.9034_9035delinsAT) c.1904_1905delinsAT c.8930_8931delinsAT (p.Tyr2977=) c.*64_*65delinsAT (n.*64_*65delinsAT) | |
13 | g.32379823del | CA025935 | BRCA2 | c.9027del (p.His3010IlefsTer18) c.*394del (n.*394del) c.8658del (p.His2887IlefsTer18) c.*589del (n.*589del) c.8976del (p.His2993IlefsTer18) c.1443del (p.His482IlefsTer18) n.1154del c.9035del (n.9035del) c.1905del c.8931del (p.His2978IlefsTer18) c.*65del (n.*65del) | ClinVar dbSNP gnomAD v4 |
13 | g.32379823T>A | CA387757496 | BRCA2 | c.9027T>A (p.Tyr3009Ter) c.*394T>A (n.*394T>A) c.8658T>A (p.Tyr2886Ter) c.*589T>A (n.*589T>A) c.8976T>A (p.Tyr2992Ter) c.1443T>A (p.Tyr481Ter) n.1154T>A c.9035T>A (n.9035T>A) c.1905T>A c.8931T>A (p.Tyr2977Ter) c.*65T>A (n.*65T>A) | dbSNP |
13 | g.32379823T>C | CA483439847 | BRCA2 | c.9027T>C (p.Tyr3009=) c.*394T>C (n.*394T>C) c.8658T>C (p.Tyr2886=) c.*589T>C (n.*589T>C) c.8976T>C (p.Tyr2992=) c.1443T>C (p.Tyr481=) n.1154T>C c.9035T>C (n.9035T>C) c.1905T>C c.8931T>C (p.Tyr2977=) c.*65T>C (n.*65T>C) | ClinVar |
13 | g.32379823T>G | CA349539 | BRCA2 | c.9027T>G (p.Tyr3009Ter) c.*394T>G (n.*394T>G) c.8658T>G (p.Tyr2886Ter) c.*589T>G (n.*589T>G) c.8976T>G (p.Tyr2992Ter) c.1443T>G (p.Tyr481Ter) n.1154T>G c.9035T>G (n.9035T>G) c.1905T>G c.8931T>G (p.Tyr2977Ter) c.*65T>G (n.*65T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32379823T= | CA2082838277 | BRCA2 | c.9027T= (p.Tyr3009=) c.*394T= (n.*394T=) c.8658T= (p.Tyr2886=) c.*589T= (n.*589T=) c.8976T= (p.Tyr2992=) c.1443T= (p.Tyr481=) n.1154T= c.9035T= (n.9035T=) c.1905T= c.8931T= (p.Tyr2977=) c.*65T= (n.*65T=) | |
13 | g.32379824C>A | CA387757497 | BRCA2 | c.9028C>A (p.His3010Asn) c.*395C>A (n.*395C>A) c.8659C>A (p.His2887Asn) c.*590C>A (n.*590C>A) c.8977C>A (p.His2993Asn) c.1444C>A (p.His482Asn) n.1155C>A c.9036C>A (n.9036C>A) c.1906C>A c.8932C>A (p.His2978Asn) c.*66C>A (n.*66C>A) | |
13 | g.32379824C>G | CA387757498 | BRCA2 | c.9028C>G (p.His3010Asp) c.*395C>G (n.*395C>G) c.8659C>G (p.His2887Asp) c.*590C>G (n.*590C>G) c.8977C>G (p.His2993Asp) c.1444C>G (p.His482Asp) n.1155C>G c.9036C>G (n.9036C>G) c.1906C>G c.8932C>G (p.His2978Asp) c.*66C>G (n.*66C>G) | |
13 | g.32379824C>T | CA387757499 | BRCA2 | c.9028C>T (p.His3010Tyr) c.*395C>T (n.*395C>T) c.8659C>T (p.His2887Tyr) c.*590C>T (n.*590C>T) c.8977C>T (p.His2993Tyr) c.1444C>T (p.His482Tyr) n.1155C>T c.9036C>T (n.9036C>T) c.1906C>T c.8932C>T (p.His2978Tyr) c.*66C>T (n.*66C>T) | |
13 | g.32379824_32379825insTTCC | CA2580087489 | BRCA2 | c.9028_9029insTTCC (p.His3010LeufsTer9) c.*395_*396insTTCC (n.*395_*396insTTCC) c.8659_8660insTTCC (p.His2887LeufsTer9) c.*590_*591insTTCC (n.*590_*591insTTCC) c.8977_8978insTTCC (p.His2993LeufsTer9) c.1444_1445insTTCC (p.His482LeufsTer9) n.1155_1156insTTCC c.9036_9037insTTCC (n.9036_9037insTTCC) c.1906_1907insTTCC c.8932_8933insTTCC (p.His2978LeufsTer9) c.*66_*67insTTCC (n.*66_*67insTTCC) | ClinVar |
13 | g.32379825A= | CA2082838296 | BRCA2 | c.9029A= (p.His3010=) c.*396A= (n.*396A=) c.8660A= (p.His2887=) c.*591A= (n.*591A=) c.8978A= (p.His2993=) c.1445A= (p.His482=) n.1156A= c.9037A= (n.9037A=) c.1907A= c.8933A= (p.His2978=) c.*67A= (n.*67A=) | |
13 | g.32379825A>C | CA387757500 | BRCA2 | c.9029A>C (p.His3010Pro) c.*396A>C (n.*396A>C) c.8660A>C (p.His2887Pro) c.*591A>C (n.*591A>C) c.8978A>C (p.His2993Pro) c.1445A>C (p.His482Pro) n.1156A>C c.9037A>C (n.9037A>C) c.1907A>C c.8933A>C (p.His2978Pro) c.*67A>C (n.*67A>C) | dbSNP |
13 | g.32379825A>G | CA387757501 | BRCA2 | c.9029A>G (p.His3010Arg) c.*396A>G (n.*396A>G) c.8660A>G (p.His2887Arg) c.*591A>G (n.*591A>G) c.8978A>G (p.His2993Arg) c.1445A>G (p.His482Arg) n.1156A>G c.9037A>G (n.9037A>G) c.1907A>G c.8933A>G (p.His2978Arg) c.*67A>G (n.*67A>G) | ClinVar dbSNP |
13 | g.32379825A>T | CA387757502 | BRCA2 | c.9029A>T (p.His3010Leu) c.*396A>T (n.*396A>T) c.8660A>T (p.His2887Leu) c.*591A>T (n.*591A>T) c.8978A>T (p.His2993Leu) c.1445A>T (p.His482Leu) n.1156A>T c.9037A>T (n.9037A>T) c.1907A>T c.8933A>T (p.His2978Leu) c.*67A>T (n.*67A>T) | dbSNP |
13 | g.32379826T>A | CA387757503 | BRCA2 | c.9030T>A (p.His3010Gln) c.*397T>A (n.*397T>A) c.8661T>A (p.His2887Gln) c.*592T>A (n.*592T>A) c.8979T>A (p.His2993Gln) c.1446T>A (p.His482Gln) n.1157T>A c.9038T>A (n.9038T>A) c.1908T>A c.8934T>A (p.His2978Gln) c.*68T>A (n.*68T>A) | dbSNP |
13 | g.32379826T>C | CA16614238 | BRCA2 | c.9030T>C (p.His3010=) c.*397T>C (n.*397T>C) c.8661T>C (p.His2887=) c.*592T>C (n.*592T>C) c.8979T>C (p.His2993=) c.1446T>C (p.His482=) n.1157T>C c.9038T>C (n.9038T>C) c.1908T>C c.8934T>C (p.His2978=) c.*68T>C (n.*68T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32379826T>G | CA387757504 | BRCA2 | c.9030T>G (p.His3010Gln) c.*397T>G (n.*397T>G) c.8661T>G (p.His2887Gln) c.*592T>G (n.*592T>G) c.8979T>G (p.His2993Gln) c.1446T>G (p.His482Gln) n.1157T>G c.9038T>G (n.9038T>G) c.1908T>G c.8934T>G (p.His2978Gln) c.*68T>G (n.*68T>G) | |
13 | g.32379826T= | CA2082838314 | BRCA2 | c.9030T= (p.His3010=) c.*397T= (n.*397T=) c.8661T= (p.His2887=) c.*592T= (n.*592T=) c.8979T= (p.His2993=) c.1446T= (p.His482=) n.1157T= c.9038T= (n.9038T=) c.1908T= c.8934T= (p.His2978=) c.*68T= (n.*68T=) | |
13 | g.32379827C>A | CA387757507 | BRCA2 | c.9031C>A (p.Leu3011Ile) c.*398C>A (n.*398C>A) c.8662C>A (p.Leu2888Ile) c.*593C>A (n.*593C>A) c.8980C>A (p.Leu2994Ile) c.1447C>A (p.Leu483Ile) n.1158C>A c.9039C>A (n.9039C>A) c.1909C>A c.8935C>A (p.Leu2979Ile) c.*69C>A (n.*69C>A) | |
13 | g.32379827C>G | CA387757506 | BRCA2 | c.9031C>G (p.Leu3011Val) c.*398C>G (n.*398C>G) c.8662C>G (p.Leu2888Val) c.*593C>G (n.*593C>G) c.8980C>G (p.Leu2994Val) c.1447C>G (p.Leu483Val) n.1158C>G c.9039C>G (n.9039C>G) c.1909C>G c.8935C>G (p.Leu2979Val) c.*69C>G (n.*69C>G) | ClinVar gnomAD v4 |
13 | g.32379827C>T | CA387757505 | BRCA2 | c.9031C>T (p.Leu3011Phe) c.*398C>T (n.*398C>T) c.8662C>T (p.Leu2888Phe) c.*593C>T (n.*593C>T) c.8980C>T (p.Leu2994Phe) c.1447C>T (p.Leu483Phe) n.1158C>T c.9039C>T (n.9039C>T) c.1909C>T c.8935C>T (p.Leu2979Phe) c.*69C>T (n.*69C>T) | COSMIC COSMIC |
13 | g.32379828T>A | CA387757508 | BRCA2 | c.9032T>A (p.Leu3011His) c.*399T>A (n.*399T>A) c.8663T>A (p.Leu2888His) c.*594T>A (n.*594T>A) c.8981T>A (p.Leu2994His) c.1448T>A (p.Leu483His) n.1159T>A c.9040T>A (n.9040T>A) c.1910T>A c.8936T>A (p.Leu2979His) c.*70T>A (n.*70T>A) | dbSNP |
13 | g.32379828T>C | CA025937 | BRCA2 | c.9032T>C (p.Leu3011Pro) c.*399T>C (n.*399T>C) c.8663T>C (p.Leu2888Pro) c.*594T>C (n.*594T>C) c.8981T>C (p.Leu2994Pro) c.1448T>C (p.Leu483Pro) n.1159T>C c.9040T>C (n.9040T>C) c.1910T>C c.8936T>C (p.Leu2979Pro) c.*70T>C (n.*70T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32379828T>G | CA387757509 | BRCA2 | c.9032T>G (p.Leu3011Arg) c.*399T>G (n.*399T>G) c.8663T>G (p.Leu2888Arg) c.*594T>G (n.*594T>G) c.8981T>G (p.Leu2994Arg) c.1448T>G (p.Leu483Arg) n.1159T>G c.9040T>G (n.9040T>G) c.1910T>G c.8936T>G (p.Leu2979Arg) c.*70T>G (n.*70T>G) | ClinVar dbSNP |
13 | g.32379828T= | CA2082838321 | BRCA2 | c.9032T= (p.Leu3011=) c.*399T= (n.*399T=) c.8663T= (p.Leu2888=) c.*594T= (n.*594T=) c.8981T= (p.Leu2994=) c.1448T= (p.Leu483=) n.1159T= c.9040T= (n.9040T=) c.1910T= c.8936T= (p.Leu2979=) c.*70T= (n.*70T=) | |
13 | g.32379829T>A | CA483439849 | BRCA2 | c.9033T>A (p.Leu3011=) c.*400T>A (n.*400T>A) c.8664T>A (p.Leu2888=) c.*595T>A (n.*595T>A) c.8982T>A (p.Leu2994=) c.1449T>A (p.Leu483=) n.1160T>A c.9041T>A (n.9041T>A) c.1911T>A c.8937T>A (p.Leu2979=) c.*71T>A (n.*71T>A) | dbSNP |
13 | g.32379829T>C | CA483439850 | BRCA2 | c.9033T>C (p.Leu3011=) c.*400T>C (n.*400T>C) c.8664T>C (p.Leu2888=) c.*595T>C (n.*595T>C) c.8982T>C (p.Leu2994=) c.1449T>C (p.Leu483=) n.1160T>C c.9041T>C (n.9041T>C) c.1911T>C c.8937T>C (p.Leu2979=) c.*71T>C (n.*71T>C) | dbSNP |
13 | g.32379829T>G | CA483439848 | BRCA2 | c.9033T>G (p.Leu3011=) c.*400T>G (n.*400T>G) c.8664T>G (p.Leu2888=) c.*595T>G (n.*595T>G) c.8982T>G (p.Leu2994=) c.1449T>G (p.Leu483=) n.1160T>G c.9041T>G (n.9041T>G) c.1911T>G c.8937T>G (p.Leu2979=) c.*71T>G (n.*71T>G) | |
13 | g.32379829T= | CA2082838325 | BRCA2 | c.9033T= (p.Leu3011=) c.*400T= (n.*400T=) c.8664T= (p.Leu2888=) c.*595T= (n.*595T=) c.8982T= (p.Leu2994=) c.1449T= (p.Leu483=) n.1160T= c.9041T= (n.9041T=) c.1911T= c.8937T= (p.Leu2979=) c.*71T= (n.*71T=) | |
13 | g.32379830G>A | CA387757510 | BRCA2 | c.9034G>A (p.Ala3012Thr) c.*401G>A (n.*401G>A) c.8665G>A (p.Ala2889Thr) c.*596G>A (n.*596G>A) c.8983G>A (p.Ala2995Thr) c.1450G>A (p.Ala484Thr) n.1161G>A c.9042G>A (n.9042G>A) c.1912G>A c.8938G>A (p.Ala2980Thr) c.*72G>A (n.*72G>A) | dbSNP |
13 | g.32379830G>C | CA387757511 | BRCA2 | c.9034G>C (p.Ala3012Pro) c.*401G>C (n.*401G>C) c.8665G>C (p.Ala2889Pro) c.*596G>C (n.*596G>C) c.8983G>C (p.Ala2995Pro) c.1450G>C (p.Ala484Pro) n.1161G>C c.9042G>C (n.9042G>C) c.1912G>C c.8938G>C (p.Ala2980Pro) c.*72G>C (n.*72G>C) | dbSNP |
13 | g.32379830G>T | CA387757512 | BRCA2 | c.9034G>T (p.Ala3012Ser) c.*401G>T (n.*401G>T) c.8665G>T (p.Ala2889Ser) c.*596G>T (n.*596G>T) c.8983G>T (p.Ala2995Ser) c.1450G>T (p.Ala484Ser) n.1161G>T c.9042G>T (n.9042G>T) c.1912G>T c.8938G>T (p.Ala2980Ser) c.*72G>T (n.*72G>T) | |
13 | g.32379830dup | CA10589541 | BRCA2 | c.9034dup (p.Ala3012GlyfsTer6) c.*401dup (n.*401dup) c.8665dup (p.Ala2889GlyfsTer6) c.*596dup (n.*596dup) c.8983dup (p.Ala2995GlyfsTer6) c.1450dup (p.Ala484GlyfsTer6) n.1161dup c.9042dup (n.9042dup) c.1912dup c.8938dup (p.Ala2980GlyfsTer6) c.*72dup (n.*72dup) | ClinVar dbSNP |
13 | g.32379831C>A | CA6941329 | BRCA2 | c.9035C>A (p.Ala3012Glu) c.*402C>A (n.*402C>A) c.8666C>A (p.Ala2889Glu) c.*597C>A (n.*597C>A) c.8984C>A (p.Ala2995Glu) c.1451C>A (p.Ala484Glu) n.1162C>A c.9043C>A (n.9043C>A) c.1913C>A c.8939C>A (p.Ala2980Glu) c.*73C>A (n.*73C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32379831C= | CA2082838339 | BRCA2 | c.9035C= (p.Ala3012=) c.*402C= (n.*402C=) c.8666C= (p.Ala2889=) c.*597C= (n.*597C=) c.8984C= (p.Ala2995=) c.1451C= (p.Ala484=) n.1162C= c.9043C= (n.9043C=) c.1913C= c.8939C= (p.Ala2980=) c.*73C= (n.*73C=) | |
13 | g.32379831C>G | CA16614386 | BRCA2 | c.9035C>G (p.Ala3012Gly) c.*402C>G (n.*402C>G) c.8666C>G (p.Ala2889Gly) c.*597C>G (n.*597C>G) c.8984C>G (p.Ala2995Gly) c.1451C>G (p.Ala484Gly) n.1162C>G c.9043C>G (n.9043C>G) c.1913C>G c.8939C>G (p.Ala2980Gly) c.*73C>G (n.*73C>G) | ClinVar dbSNP |
13 | g.32379831C>T | CA387757513 | BRCA2 | c.9035C>T (p.Ala3012Val) c.*402C>T (n.*402C>T) c.8666C>T (p.Ala2889Val) c.*597C>T (n.*597C>T) c.8984C>T (p.Ala2995Val) c.1451C>T (p.Ala484Val) n.1162C>T c.9043C>T (n.9043C>T) c.1913C>T c.8939C>T (p.Ala2980Val) c.*73C>T (n.*73C>T) | dbSNP |
13 | g.32379832A= | CA2082838382 | BRCA2 | c.9036A= (p.Ala3012=) c.*403A= (n.*403A=) c.8667A= (p.Ala2889=) c.*598A= (n.*598A=) c.8985A= (p.Ala2995=) c.1452A= (p.Ala484=) n.1163A= c.9044A= (n.9044A=) c.1914A= c.8940A= (p.Ala2980=) c.*74A= (n.*74A=) | |
13 | g.32379832A>C | CA483439853 | BRCA2 | c.9036A>C (p.Ala3012=) c.*403A>C (n.*403A>C) c.8667A>C (p.Ala2889=) c.*598A>C (n.*598A>C) c.8985A>C (p.Ala2995=) c.1452A>C (p.Ala484=) n.1163A>C c.9044A>C (n.9044A>C) c.1914A>C c.8940A>C (p.Ala2980=) c.*74A>C (n.*74A>C) | |
13 | g.32379832A>G | CA483439851 | BRCA2 | c.9036A>G (p.Ala3012=) c.*403A>G (n.*403A>G) c.8667A>G (p.Ala2889=) c.*598A>G (n.*598A>G) c.8985A>G (p.Ala2995=) c.1452A>G (p.Ala484=) n.1163A>G c.9044A>G (n.9044A>G) c.1914A>G c.8940A>G (p.Ala2980=) c.*74A>G (n.*74A>G) | ClinVar dbSNP |
13 | g.32379832A>T | CA483439852 | BRCA2 | c.9036A>T (p.Ala3012=) c.*403A>T (n.*403A>T) c.8667A>T (p.Ala2889=) c.*598A>T (n.*598A>T) c.8985A>T (p.Ala2995=) c.1452A>T (p.Ala484=) n.1163A>T c.9044A>T (n.9044A>T) c.1914A>T c.8940A>T (p.Ala2980=) c.*74A>T (n.*74A>T) | dbSNP |
13 | g.32379833del | CA2499222360 | BRCA2 | c.9037del (p.Thr3013LeufsTer15) c.*404del (n.*404del) c.8668del (p.Thr2890LeufsTer15) c.*599del (n.*599del) c.8986del (p.Thr2996LeufsTer15) c.1453del (p.Thr485LeufsTer15) n.1164del c.9045del (n.9045del) c.1915del c.8941del (p.Thr2981LeufsTer15) c.*75del (n.*75del) | ClinVar dbSNP |
13 | g.32379833A= | CA2082838397 | BRCA2 | c.9037A= (p.Thr3013=) c.*404A= (n.*404A=) c.8668A= (p.Thr2890=) c.*599A= (n.*599A=) c.8986A= (p.Thr2996=) c.1453A= (p.Thr485=) n.1164A= c.9045A= (n.9045A=) c.1915A= c.8941A= (p.Thr2981=) c.*75A= (n.*75A=) | |
13 | g.32379833A>C | CA387757514 | BRCA2 | c.9037A>C (p.Thr3013Pro) c.*404A>C (n.*404A>C) c.8668A>C (p.Thr2890Pro) c.*599A>C (n.*599A>C) c.8986A>C (p.Thr2996Pro) c.1453A>C (p.Thr485Pro) n.1164A>C c.9045A>C (n.9045A>C) c.1915A>C c.8941A>C (p.Thr2981Pro) c.*75A>C (n.*75A>C) | ClinVar dbSNP |
13 | g.32379833A>G | CA387757515 | BRCA2 | c.9037A>G (p.Thr3013Ala) c.*404A>G (n.*404A>G) c.8668A>G (p.Thr2890Ala) c.*599A>G (n.*599A>G) c.8986A>G (p.Thr2996Ala) c.1453A>G (p.Thr485Ala) n.1164A>G c.9045A>G (n.9045A>G) c.1915A>G c.8941A>G (p.Thr2981Ala) c.*75A>G (n.*75A>G) | ClinVar dbSNP |
13 | g.32379833A>T | CA387757516 | BRCA2 | c.9037A>T (p.Thr3013Ser) c.*404A>T (n.*404A>T) c.8668A>T (p.Thr2890Ser) c.*599A>T (n.*599A>T) c.8986A>T (p.Thr2996Ser) c.1453A>T (p.Thr485Ser) n.1164A>T c.9045A>T (n.9045A>T) c.1915A>T c.8941A>T (p.Thr2981Ser) c.*75A>T (n.*75A>T) | ClinVar dbSNP |
13 | g.32379834C>A | CA387757518 | BRCA2 | c.9038C>A (p.Thr3013Asn) c.*405C>A (n.*405C>A) c.8669C>A (p.Thr2890Asn) c.*600C>A (n.*600C>A) c.8987C>A (p.Thr2996Asn) c.1454C>A (p.Thr485Asn) n.1165C>A c.9046C>A (n.9046C>A) c.1916C>A c.8942C>A (p.Thr2981Asn) c.*76C>A (n.*76C>A) | dbSNP |
13 | g.32379834C= | CA2082838409 | BRCA2 | c.9038C= (p.Thr3013=) c.*405C= (n.*405C=) c.8669C= (p.Thr2890=) c.*600C= (n.*600C=) c.8987C= (p.Thr2996=) c.1454C= (p.Thr485=) n.1165C= c.9046C= (n.9046C=) c.1916C= c.8942C= (p.Thr2981=) c.*76C= (n.*76C=) | |
13 | g.32379834C>G | CA387757517 | BRCA2 | c.9038C>G (p.Thr3013Ser) c.*405C>G (n.*405C>G) c.8669C>G (p.Thr2890Ser) c.*600C>G (n.*600C>G) c.8987C>G (p.Thr2996Ser) c.1454C>G (p.Thr485Ser) n.1165C>G c.9046C>G (n.9046C>G) c.1916C>G c.8942C>G (p.Thr2981Ser) c.*76C>G (n.*76C>G) | dbSNP |
13 | g.32379834C>T | CA025938 | BRCA2 | c.9038C>T (p.Thr3013Ile) c.*405C>T (n.*405C>T) c.8669C>T (p.Thr2890Ile) c.*600C>T (n.*600C>T) c.8987C>T (p.Thr2996Ile) c.1454C>T (p.Thr485Ile) n.1165C>T c.9046C>T (n.9046C>T) c.1916C>T c.8942C>T (p.Thr2981Ile) c.*76C>T (n.*76C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
13 | g.32379835T>A | CA483439855 | BRCA2 | c.9039T>A (p.Thr3013=) c.*406T>A (n.*406T>A) c.8670T>A (p.Thr2890=) c.*601T>A (n.*601T>A) c.8988T>A (p.Thr2996=) c.1455T>A (p.Thr485=) n.1166T>A c.9047T>A (n.9047T>A) c.1917T>A c.8943T>A (p.Thr2981=) c.*77T>A (n.*77T>A) | ClinVar dbSNP gnomAD v4 |
13 | g.32379835T>C | CA483439856 | BRCA2 | c.9039T>C (p.Thr3013=) c.*406T>C (n.*406T>C) c.8670T>C (p.Thr2890=) c.*601T>C (n.*601T>C) c.8988T>C (p.Thr2996=) c.1455T>C (p.Thr485=) n.1166T>C c.9047T>C (n.9047T>C) c.1917T>C c.8943T>C (p.Thr2981=) c.*77T>C (n.*77T>C) | dbSNP |
13 | g.32379835T>G | CA483439854 | BRCA2 | c.9039T>G (p.Thr3013=) c.*406T>G (n.*406T>G) c.8670T>G (p.Thr2890=) c.*601T>G (n.*601T>G) c.8988T>G (p.Thr2996=) c.1455T>G (p.Thr485=) n.1166T>G c.9047T>G (n.9047T>G) c.1917T>G c.8943T>G (p.Thr2981=) c.*77T>G (n.*77T>G) | ClinVar |
13 | g.32379836T>A | CA387757519 | BRCA2 | c.9040T>A (p.Ser3014Thr) c.*407T>A (n.*407T>A) c.8671T>A (p.Ser2891Thr) c.*602T>A (n.*602T>A) c.8989T>A (p.Ser2997Thr) c.1456T>A (p.Ser486Thr) n.1167T>A c.9048T>A (n.9048T>A) c.1918T>A c.8944T>A (p.Ser2982Thr) c.*78T>A (n.*78T>A) | dbSNP |
13 | g.32379836T>C | CA387757520 | BRCA2 | c.9040T>C (p.Ser3014Pro) c.*407T>C (n.*407T>C) c.8671T>C (p.Ser2891Pro) c.*602T>C (n.*602T>C) c.8989T>C (p.Ser2997Pro) c.1456T>C (p.Ser486Pro) n.1167T>C c.9048T>C (n.9048T>C) c.1918T>C c.8944T>C (p.Ser2982Pro) c.*78T>C (n.*78T>C) | dbSNP |
13 | g.32379836T>G | CA387757521 | BRCA2 | c.9040T>G (p.Ser3014Ala) c.*407T>G (n.*407T>G) c.8671T>G (p.Ser2891Ala) c.*602T>G (n.*602T>G) c.8989T>G (p.Ser2997Ala) c.1456T>G (p.Ser486Ala) n.1167T>G c.9048T>G (n.9048T>G) c.1918T>G c.8944T>G (p.Ser2982Ala) c.*78T>G (n.*78T>G) | ClinVar |
13 | g.32379837C>A | CA025939 | BRCA2 | c.9041C>A (p.Ser3014Ter) c.*408C>A (n.*408C>A) c.8672C>A (p.Ser2891Ter) c.*603C>A (n.*603C>A) c.8990C>A (p.Ser2997Ter) c.1457C>A (p.Ser486Ter) n.1168C>A c.9049C>A (n.9049C>A) c.1919C>A c.8945C>A (p.Ser2982Ter) c.*79C>A (n.*79C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32379837C= | CA2082838426 | BRCA2 | c.9041C= (p.Ser3014=) c.*408C= (n.*408C=) c.8672C= (p.Ser2891=) c.*603C= (n.*603C=) c.8990C= (p.Ser2997=) c.1457C= (p.Ser486=) n.1168C= c.9049C= (n.9049C=) c.1919C= c.8945C= (p.Ser2982=) c.*79C= (n.*79C=) | |
13 | g.32379837C>G | CA025940 | BRCA2 | c.9041C>G (p.Ser3014Ter) c.*408C>G (n.*408C>G) c.8672C>G (p.Ser2891Ter) c.*603C>G (n.*603C>G) c.8990C>G (p.Ser2997Ter) c.1457C>G (p.Ser486Ter) n.1168C>G c.9049C>G (n.9049C>G) c.1919C>G c.8945C>G (p.Ser2982Ter) c.*79C>G (n.*79C>G) | ClinVar dbSNP |
13 | g.32379837C>T | CA387757522 | BRCA2 | c.9041C>T (p.Ser3014Leu) c.*408C>T (n.*408C>T) c.8672C>T (p.Ser2891Leu) c.*603C>T (n.*603C>T) c.8990C>T (p.Ser2997Leu) c.1457C>T (p.Ser486Leu) n.1168C>T c.9049C>T (n.9049C>T) c.1919C>T c.8945C>T (p.Ser2982Leu) c.*79C>T (n.*79C>T) | gnomAD v4 |
13 | g.32379837_32379849del | CA2622601877 | BRCA2 | c.9041_9053del (p.Ser3014LeufsTer10) c.*408_*420del (n.*408_*420del) c.8672_8684del (p.Ser2891LeufsTer10) c.*603_*615del (n.*603_*615del) c.8990_9002del (p.Ser2997LeufsTer10) c.1457_1469del (p.Ser486LeufsTer10) n.1168_1180del c.9049_9061del (n.9049_9061del) c.1919_1931del c.8945_8957del (p.Ser2982LeufsTer10) | gnomAD v4 |
13 | g.32379838A>C | CA483439857 | BRCA2 | c.9042A>C (p.Ser3014=) c.*409A>C (n.*409A>C) c.8673A>C (p.Ser2891=) c.*604A>C (n.*604A>C) c.8991A>C (p.Ser2997=) c.1458A>C (p.Ser486=) n.1169A>C c.9050A>C (n.9050A>C) c.1920A>C c.8946A>C (p.Ser2982=) c.*80A>C (n.*80A>C) | |
13 | g.32379838A>G | CA483439858 | BRCA2 | c.9042A>G (p.Ser3014=) c.*409A>G (n.*409A>G) c.8673A>G (p.Ser2891=) c.*604A>G (n.*604A>G) c.8991A>G (p.Ser2997=) c.1458A>G (p.Ser486=) n.1169A>G c.9050A>G (n.9050A>G) c.1920A>G c.8946A>G (p.Ser2982=) c.*80A>G (n.*80A>G) | ClinVar dbSNP |
13 | g.32379838A>T | CA483439859 | BRCA2 | c.9042A>T (p.Ser3014=) c.*409A>T (n.*409A>T) c.8673A>T (p.Ser2891=) c.*604A>T (n.*604A>T) c.8991A>T (p.Ser2997=) c.1458A>T (p.Ser486=) n.1169A>T c.9050A>T (n.9050A>T) c.1920A>T c.8946A>T (p.Ser2982=) c.*80A>T (n.*80A>T) | dbSNP |
13 | g.32379841del | CA2573053827 | BRCA2 | c.9045del (p.Lys3015AsnfsTer13) c.*412del (n.*412del) c.8676del (p.Lys2892AsnfsTer13) c.*607del (n.*607del) c.8994del (p.Lys2998AsnfsTer13) c.1461del (p.Lys487AsnfsTer13) n.1172del c.9053del (n.9053del) c.1923del c.8949del (p.Lys2983AsnfsTer13) c.*83del (n.*83del) | ClinVar dbSNP |
13 | g.32379839A= | CA2082838434 | BRCA2 | c.9043A= (p.Lys3015=) c.*410A= (n.*410A=) c.8674A= (p.Lys2892=) c.*605A= (n.*605A=) c.8992A= (p.Lys2998=) c.1459A= (p.Lys487=) n.1170A= c.9051A= (n.9051A=) c.1921A= c.8947A= (p.Lys2983=) c.*81A= (n.*81A=) | |
13 | g.32379839A>C | CA387757523 | BRCA2 | c.9043A>C (p.Lys3015Gln) c.*410A>C (n.*410A>C) c.8674A>C (p.Lys2892Gln) c.*605A>C (n.*605A>C) c.8992A>C (p.Lys2998Gln) c.1459A>C (p.Lys487Gln) n.1170A>C c.9051A>C (n.9051A>C) c.1921A>C c.8947A>C (p.Lys2983Gln) c.*81A>C (n.*81A>C) | |
13 | g.32379839A>G | CA025941 | BRCA2 | c.9043A>G (p.Lys3015Glu) c.*410A>G (n.*410A>G) c.8674A>G (p.Lys2892Glu) c.*605A>G (n.*605A>G) c.8992A>G (p.Lys2998Glu) c.1459A>G (p.Lys487Glu) n.1170A>G c.9051A>G (n.9051A>G) c.1921A>G c.8947A>G (p.Lys2983Glu) c.*81A>G (n.*81A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32379839A>T | CA387757524 | BRCA2 | c.9043A>T (p.Lys3015Ter) c.*410A>T (n.*410A>T) c.8674A>T (p.Lys2892Ter) c.*605A>T (n.*605A>T) c.8992A>T (p.Lys2998Ter) c.1459A>T (p.Lys487Ter) n.1170A>T c.9051A>T (n.9051A>T) c.1921A>T c.8947A>T (p.Lys2983Ter) c.*81A>T (n.*81A>T) | |
13 | g.32379845_32379856del | CA2573149235 | BRCA2 | c.9049_9060del (p.Lys3017_Ser3020del) c.*416_*427del (n.*416_*427del) c.8680_8691del (p.Lys2894_Ser2897del) c.*611_*622del (n.*611_*622del) c.8998_9009del (p.Lys3000_Ser3003del) c.1465_1476del (p.Lys489_Ser492del) n.1176_1187del c.9057_9068del (n.9057_9068del) c.1927_1938del c.8953_8964del (p.Lys2985_Ser2988del) | ClinVar dbSNP |
13 | g.32379840A>C | CA387757525 | BRCA2 | c.9044A>C (p.Lys3015Thr) c.*411A>C (n.*411A>C) c.8675A>C (p.Lys2892Thr) c.*606A>C (n.*606A>C) c.8993A>C (p.Lys2998Thr) c.1460A>C (p.Lys487Thr) n.1171A>C c.9052A>C (n.9052A>C) c.1922A>C c.1A>C c.8948A>C (p.Lys2983Thr) c.*82A>C (n.*82A>C) | |
13 | g.32379840A>G | CA387757526 | BRCA2 | c.9044A>G (p.Lys3015Arg) c.*411A>G (n.*411A>G) c.8675A>G (p.Lys2892Arg) c.*606A>G (n.*606A>G) c.8993A>G (p.Lys2998Arg) c.1460A>G (p.Lys487Arg) n.1171A>G c.9052A>G (n.9052A>G) c.1922A>G c.1A>G c.8948A>G (p.Lys2983Arg) c.*82A>G (n.*82A>G) | |
13 | g.32379840A>T | CA387757527 | BRCA2 | c.9044A>T (p.Lys3015Ile) c.*411A>T (n.*411A>T) c.8675A>T (p.Lys2892Ile) c.*606A>T (n.*606A>T) c.8993A>T (p.Lys2998Ile) c.1460A>T (p.Lys487Ile) n.1171A>T c.9052A>T (n.9052A>T) c.1922A>T c.1A>T c.8948A>T (p.Lys2983Ile) c.*82A>T (n.*82A>T) | ClinVar dbSNP |
13 | g.32379841A>C | CA387757528 | BRCA2 | c.9045A>C (p.Lys3015Asn) c.*412A>C (n.*412A>C) c.8676A>C (p.Lys2892Asn) c.*607A>C (n.*607A>C) c.8994A>C (p.Lys2998Asn) c.1461A>C (p.Lys487Asn) n.1172A>C c.9053A>C (n.9053A>C) c.1923A>C c.2A>C c.8949A>C (p.Lys2983Asn) c.*83A>C (n.*83A>C) | |
13 | g.32379841A>G | CA483439860 | BRCA2 | c.9045A>G (p.Lys3015=) c.*412A>G (n.*412A>G) c.8676A>G (p.Lys2892=) c.*607A>G (n.*607A>G) c.8994A>G (p.Lys2998=) c.1461A>G (p.Lys487=) n.1172A>G c.9053A>G (n.9053A>G) c.1923A>G c.2A>G c.8949A>G (p.Lys2983=) c.*83A>G (n.*83A>G) | |
13 | g.32379841A>T | CA387757529 | BRCA2 | c.9045A>T (p.Lys3015Asn) c.*412A>T (n.*412A>T) c.8676A>T (p.Lys2892Asn) c.*607A>T (n.*607A>T) c.8994A>T (p.Lys2998Asn) c.1461A>T (p.Lys487Asn) n.1172A>T c.9053A>T (n.9053A>T) c.1923A>T c.2A>T c.8949A>T (p.Lys2983Asn) c.*83A>T (n.*83A>T) | |
13 | g.32379842T>A | CA387757532 | BRCA2 | c.9046T>A (p.Ser3016Thr) c.*413T>A (n.*413T>A) c.8677T>A (p.Ser2893Thr) c.*608T>A (n.*608T>A) c.8995T>A (p.Ser2999Thr) c.1462T>A (p.Ser488Thr) n.1173T>A c.9054T>A (n.9054T>A) c.1924T>A c.3T>A c.8950T>A (p.Ser2984Thr) c.*84T>A (n.*84T>A) | dbSNP |
13 | g.32379842T>C | CA387757531 | BRCA2 | c.9046T>C (p.Ser3016Pro) c.*413T>C (n.*413T>C) c.8677T>C (p.Ser2893Pro) c.*608T>C (n.*608T>C) c.8995T>C (p.Ser2999Pro) c.1462T>C (p.Ser488Pro) n.1173T>C c.9054T>C (n.9054T>C) c.1924T>C c.3T>C c.8950T>C (p.Ser2984Pro) c.*84T>C (n.*84T>C) | dbSNP |
13 | g.32379842T>G | CA387757530 | BRCA2 | c.9046T>G (p.Ser3016Ala) c.*413T>G (n.*413T>G) c.8677T>G (p.Ser2893Ala) c.*608T>G (n.*608T>G) c.8995T>G (p.Ser2999Ala) c.1462T>G (p.Ser488Ala) n.1173T>G c.9054T>G (n.9054T>G) c.1924T>G c.3T>G c.8950T>G (p.Ser2984Ala) c.*84T>G (n.*84T>G) | ClinVar dbSNP |
13 | g.32379843C>A | CA387757533 | BRCA2 | c.9047C>A (p.Ser3016Tyr) c.*414C>A (n.*414C>A) c.8678C>A (p.Ser2893Tyr) c.*609C>A (n.*609C>A) c.8996C>A (p.Ser2999Tyr) c.1463C>A (p.Ser488Tyr) n.1174C>A c.9055C>A (n.9055C>A) c.1925C>A c.4C>A c.8951C>A (p.Ser2984Tyr) c.*85C>A (n.*85C>A) | dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32379843C= | CA2082838453 | BRCA2 | c.9047C= (p.Ser3016=) c.*414C= (n.*414C=) c.8678C= (p.Ser2893=) c.*609C= (n.*609C=) c.8996C= (p.Ser2999=) c.1463C= (p.Ser488=) n.1174C= c.9055C= (n.9055C=) c.1925C= c.4C= c.8951C= (p.Ser2984=) c.*85C= (n.*85C=) | |
13 | g.32379843C>G | CA387757534 | BRCA2 | c.9047C>G (p.Ser3016Cys) c.*414C>G (n.*414C>G) c.8678C>G (p.Ser2893Cys) c.*609C>G (n.*609C>G) c.8996C>G (p.Ser2999Cys) c.1463C>G (p.Ser488Cys) n.1174C>G c.9055C>G (n.9055C>G) c.1925C>G c.4C>G c.8951C>G (p.Ser2984Cys) c.*85C>G (n.*85C>G) | dbSNP |
13 | g.32379843C>T | CA247494091 | BRCA2 | c.9047C>T (p.Ser3016Phe) c.*414C>T (n.*414C>T) c.8678C>T (p.Ser2893Phe) c.*609C>T (n.*609C>T) c.8996C>T (p.Ser2999Phe) c.1463C>T (p.Ser488Phe) n.1174C>T c.9055C>T (n.9055C>T) c.1925C>T c.4C>T c.8951C>T (p.Ser2984Phe) c.*85C>T (n.*85C>T) | dbSNP |
13 | g.32379843_32379849delinsCTAAAAG | CA2082838448 | BRCA2 | c.9047_9053delinsCTAAAAG (p.Ser3016=) c.*414_*420delinsCTAAAAG (n.*414_*420delinsCTAAAAG) c.8678_8684delinsCTAAAAG (p.Ser2893=) c.*609_*615delinsCTAAAAG (n.*609_*615delinsCTAAAAG) c.8996_9002delinsCTAAAAG (p.Ser2999=) c.1463_1469delinsCTAAAAG (p.Ser488=) n.1174_1180delinsCTAAAAG c.9055_9061delinsCTAAAAG (n.9055_9061delinsCTAAAAG) c.1925_1931delinsCTAAAAG c.4_10delinsCTAAAAG c.8951_8957delinsCTAAAAG (p.Ser2984=) | |
13 | g.32379844T>A | CA483439861 | BRCA2 | c.9048T>A (p.Ser3016=) c.*415T>A (n.*415T>A) c.8679T>A (p.Ser2893=) c.*610T>A (n.*610T>A) c.8997T>A (p.Ser2999=) c.1464T>A (p.Ser488=) n.1175T>A c.9056T>A (n.9056T>A) c.1926T>A c.5T>A c.8952T>A (p.Ser2984=) | |
13 | g.32379844T>C | CA483439862 | BRCA2 | c.9048T>C (p.Ser3016=) c.*415T>C (n.*415T>C) c.8679T>C (p.Ser2893=) c.*610T>C (n.*610T>C) c.8997T>C (p.Ser2999=) c.1464T>C (p.Ser488=) n.1175T>C c.9056T>C (n.9056T>C) c.1926T>C c.5T>C c.8952T>C (p.Ser2984=) | |
13 | g.32379844T>G | CA483439863 | BRCA2 | c.9048T>G (p.Ser3016=) c.*415T>G (n.*415T>G) c.8679T>G (p.Ser2893=) c.*610T>G (n.*610T>G) c.8997T>G (p.Ser2999=) c.1464T>G (p.Ser488=) n.1175T>G c.9056T>G (n.9056T>G) c.1926T>G c.5T>G c.8952T>G (p.Ser2984=) | ClinVar |
13 | g.32379844_32379845delinsTA | CA2082838469 | BRCA2 | c.9048_9049delinsTA (p.Ser3016=) c.*415_*416delinsTA (n.*415_*416delinsTA) c.8679_8680delinsTA (p.Ser2893=) c.*610_*611delinsTA (n.*610_*611delinsTA) c.8997_8998delinsTA (p.Ser2999=) c.1464_1465delinsTA (p.Ser488=) n.1175_1176delinsTA c.9056_9057delinsTA (n.9056_9057delinsTA) c.1926_1927delinsTA c.5_6delinsTA c.8952_8953delinsTA (p.Ser2984=) | |
13 | g.32379848_32379853del | CA025942 | BRCA2 | c.9052_9057del (p.Ser3018_Lys3019del) c.*419_*424del (n.*419_*424del) c.8683_8688del (p.Ser2895_Lys2896del) c.*614_*619del (n.*614_*619del) c.9001_9006del (p.Ser3001_Lys3002del) c.1468_1473del (p.Ser490_Lys491del) n.1179_1184del c.9060_9065del (n.9060_9065del) c.1930_1935del c.9_14del c.8956_8961del (p.Ser2986_Lys2987del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379845A= | CA2082838490 | BRCA2 | c.9049A= (p.Lys3017=) c.*416A= (n.*416A=) c.8680A= (p.Lys2894=) c.*611A= (n.*611A=) c.8998A= (p.Lys3000=) c.1465A= (p.Lys489=) n.1176A= c.9057A= (n.9057A=) c.1927A= c.6A= c.8953A= (p.Lys2985=) | |
13 | g.32379845A>C | CA387757535 | BRCA2 | c.9049A>C (p.Lys3017Gln) c.*416A>C (n.*416A>C) c.8680A>C (p.Lys2894Gln) c.*611A>C (n.*611A>C) c.8998A>C (p.Lys3000Gln) c.1465A>C (p.Lys489Gln) n.1176A>C c.9057A>C (n.9057A>C) c.1927A>C c.6A>C c.8953A>C (p.Lys2985Gln) | |
13 | g.32379845A>G | CA387757536 | BRCA2 | c.9049A>G (p.Lys3017Glu) c.*416A>G (n.*416A>G) c.8680A>G (p.Lys2894Glu) c.*611A>G (n.*611A>G) c.8998A>G (p.Lys3000Glu) c.1465A>G (p.Lys489Glu) n.1176A>G c.9057A>G (n.9057A>G) c.1927A>G c.6A>G c.8953A>G (p.Lys2985Glu) | ClinVar dbSNP gnomAD v4 |
13 | g.32379845A>T | CA387757537 | BRCA2 | c.9049A>T (p.Lys3017Ter) c.*416A>T (n.*416A>T) c.8680A>T (p.Lys2894Ter) c.*611A>T (n.*611A>T) c.8998A>T (p.Lys3000Ter) c.1465A>T (p.Lys489Ter) n.1176A>T c.9057A>T (n.9057A>T) c.1927A>T c.6A>T c.8953A>T (p.Lys2985Ter) | dbSNP |
13 | g.32379848del | CA10589542 | BRCA2 | c.9052del (p.Ser3018ValfsTer10) c.*419del (n.*419del) c.8683del (p.Ser2895ValfsTer10) c.*614del (n.*614del) c.9001del (p.Ser3001ValfsTer10) c.1468del (p.Ser490ValfsTer10) n.1179del c.9060del (n.9060del) c.1930del c.9del c.8956del (p.Ser2986ValfsTer10) | ClinVar dbSNP |
13 | g.32379845_32379850delinsAAAAGT | CA2082838478 | BRCA2 | c.9049_9054delinsAAAAGT (p.Lys3017=) c.*416_*421delinsAAAAGT (n.*416_*421delinsAAAAGT) c.8680_8685delinsAAAAGT (p.Lys2894=) c.*611_*616delinsAAAAGT (n.*611_*616delinsAAAAGT) c.8998_9003delinsAAAAGT (p.Lys3000=) c.1465_1470delinsAAAAGT (p.Lys489=) n.1176_1181delinsAAAAGT c.9057_9062delinsAAAAGT (n.9057_9062delinsAAAAGT) c.1927_1932delinsAAAAGT c.6_11delinsAAAAGT c.8953_8958delinsAAAAGT (p.Lys2985=) | |
13 | g.32379846A>C | CA387757538 | BRCA2 | c.9050A>C (p.Lys3017Thr) c.*417A>C (n.*417A>C) c.8681A>C (p.Lys2894Thr) c.*612A>C (n.*612A>C) c.8999A>C (p.Lys3000Thr) c.1466A>C (p.Lys489Thr) n.1177A>C c.9058A>C (n.9058A>C) c.1928A>C c.7A>C c.8954A>C (p.Lys2985Thr) | |
13 | g.32379846A>G | CA387757540 | BRCA2 | c.9050A>G (p.Lys3017Arg) c.*417A>G (n.*417A>G) c.8681A>G (p.Lys2894Arg) c.*612A>G (n.*612A>G) c.8999A>G (p.Lys3000Arg) c.1466A>G (p.Lys489Arg) n.1177A>G c.9058A>G (n.9058A>G) c.1928A>G c.7A>G c.8954A>G (p.Lys2985Arg) | |
13 | g.32379846A>T | CA387757539 | BRCA2 | c.9050A>T (p.Lys3017Ile) c.*417A>T (n.*417A>T) c.8681A>T (p.Lys2894Ile) c.*612A>T (n.*612A>T) c.8999A>T (p.Lys3000Ile) c.1466A>T (p.Lys489Ile) n.1177A>T c.9058A>T (n.9058A>T) c.1928A>T c.7A>T c.8954A>T (p.Lys2985Ile) | dbSNP |
13 | g.32379846_32379849del | CA2695217960 | BRCA2 | c.9050_9053del (p.Lys3017IlefsTer10) c.*417_*420del (n.*417_*420del) c.8681_8684del (p.Lys2894IlefsTer10) c.*612_*615del (n.*612_*615del) c.8999_9002del (p.Lys3000IlefsTer10) c.1466_1469del (p.Lys489IlefsTer10) n.1177_1180del c.9058_9061del (n.9058_9061del) c.1928_1931del c.7_10del c.8954_8957del (p.Lys2985IlefsTer10) | |
13 | g.32379849_32379853del | CA10576076 | BRCA2 | c.9053_9057del (p.Ser3018IlefsTer2) c.*420_*424del (n.*420_*424del) c.8684_8688del (p.Ser2895IlefsTer2) c.*615_*619del (n.*615_*619del) c.9002_9006del (p.Ser3001IlefsTer2) c.1469_1473del (p.Ser490IlefsTer2) n.1180_1184del c.9061_9065del (n.9061_9065del) c.1931_1935del c.10_14del c.8957_8961del (p.Ser2986IlefsTer2) | ClinVar dbSNP |
13 | g.32379847A>C | CA387757542 | BRCA2 | c.9051A>C (p.Lys3017Asn) c.*418A>C (n.*418A>C) c.8682A>C (p.Lys2894Asn) c.*613A>C (n.*613A>C) c.9000A>C (p.Lys3000Asn) c.1467A>C (p.Lys489Asn) n.1178A>C c.9059A>C (n.9059A>C) c.1929A>C c.8A>C c.8955A>C (p.Lys2985Asn) | |
13 | g.32379847A>G | CA483439864 | BRCA2 | c.9051A>G (p.Lys3017=) c.*418A>G (n.*418A>G) c.8682A>G (p.Lys2894=) c.*613A>G (n.*613A>G) c.9000A>G (p.Lys3000=) c.1467A>G (p.Lys489=) n.1178A>G c.9059A>G (n.9059A>G) c.1929A>G c.8A>G c.8955A>G (p.Lys2985=) | |
13 | g.32379847A>T | CA387757541 | BRCA2 | c.9051A>T (p.Lys3017Asn) c.*418A>T (n.*418A>T) c.8682A>T (p.Lys2894Asn) c.*613A>T (n.*613A>T) c.9000A>T (p.Lys3000Asn) c.1467A>T (p.Lys489Asn) n.1178A>T c.9059A>T (n.9059A>T) c.1929A>T c.8A>T c.8955A>T (p.Lys2985Asn) | |
13 | g.32379848A= | CA2082838511 | BRCA2 | c.9052A= (p.Ser3018=) c.*419A= (n.*419A=) c.8683A= (p.Ser2895=) c.*614A= (n.*614A=) c.9001A= (p.Ser3001=) c.1468A= (p.Ser490=) n.1179A= c.9060A= (n.9060A=) c.1930A= c.9A= c.8956A= (p.Ser2986=) | |
13 | g.32379848A>C | CA387757543 | BRCA2 | c.9052A>C (p.Ser3018Arg) c.*419A>C (n.*419A>C) c.8683A>C (p.Ser2895Arg) c.*614A>C (n.*614A>C) c.9001A>C (p.Ser3001Arg) c.1468A>C (p.Ser490Arg) n.1179A>C c.9060A>C (n.9060A>C) c.1930A>C c.9A>C c.8956A>C (p.Ser2986Arg) | |
13 | g.32379848A>G | CA025943 | BRCA2 | c.9052A>G (p.Ser3018Gly) c.*419A>G (n.*419A>G) c.8683A>G (p.Ser2895Gly) c.*614A>G (n.*614A>G) c.9001A>G (p.Ser3001Gly) c.1468A>G (p.Ser490Gly) n.1179A>G c.9060A>G (n.9060A>G) c.1930A>G c.9A>G c.8956A>G (p.Ser2986Gly) | ClinVar dbSNP |
13 | g.32379848A>T | CA387757544 | BRCA2 | c.9052A>T (p.Ser3018Cys) c.*419A>T (n.*419A>T) c.8683A>T (p.Ser2895Cys) c.*614A>T (n.*614A>T) c.9001A>T (p.Ser3001Cys) c.1468A>T (p.Ser490Cys) n.1179A>T c.9060A>T (n.9060A>T) c.1930A>T c.9A>T c.8956A>T (p.Ser2986Cys) | |
13 | g.32379849del | CA2499222361 | BRCA2 | c.9053del (p.Ser3018IlefsTer10) c.*420del (n.*420del) c.8684del (p.Ser2895IlefsTer10) c.*615del (n.*615del) c.9002del (p.Ser3001IlefsTer10) c.1469del (p.Ser490IlefsTer10) n.1180del c.9061del (n.9061del) c.1931del c.10del c.8957del (p.Ser2986IlefsTer10) | ClinVar dbSNP |
13 | g.32379849G>A | CA025944 | BRCA2 | c.9053G>A (p.Ser3018Asn) c.*420G>A (n.*420G>A) c.8684G>A (p.Ser2895Asn) c.*615G>A (n.*615G>A) c.9002G>A (p.Ser3001Asn) c.1469G>A (p.Ser490Asn) n.1180G>A c.9061G>A (n.9061G>A) c.1931G>A c.10G>A c.8957G>A (p.Ser2986Asn) | ClinVar dbSNP |
13 | g.32379849G>C | CA387757545 | BRCA2 | c.9053G>C (p.Ser3018Thr) c.*420G>C (n.*420G>C) c.8684G>C (p.Ser2895Thr) c.*615G>C (n.*615G>C) c.9002G>C (p.Ser3001Thr) c.1469G>C (p.Ser490Thr) n.1180G>C c.9061G>C (n.9061G>C) c.1931G>C c.10G>C c.8957G>C (p.Ser2986Thr) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.32379849G= | CA2082838521 | BRCA2 | c.9053G= (p.Ser3018=) c.*420G= (n.*420G=) c.8684G= (p.Ser2895=) c.*615G= (n.*615G=) c.9002G= (p.Ser3001=) c.1469G= (p.Ser490=) n.1180G= c.9061G= (n.9061G=) c.1931G= c.10G= c.8957G= (p.Ser2986=) | |
13 | g.32379849G>T | CA387757546 | BRCA2 | c.9053G>T (p.Ser3018Ile) c.*420G>T (n.*420G>T) c.8684G>T (p.Ser2895Ile) c.*615G>T (n.*615G>T) c.9002G>T (p.Ser3001Ile) c.1469G>T (p.Ser490Ile) n.1180G>T c.9061G>T (n.9061G>T) c.1931G>T c.10G>T c.8957G>T (p.Ser2986Ile) | |
13 | g.32379849_32379851delinsGTA | CA2082838519 | BRCA2 | c.9053_9055delinsGTA (p.Ser3018=) c.*420_*422delinsGTA (n.*420_*422delinsGTA) c.8684_8686delinsGTA (p.Ser2895=) c.*615_*617delinsGTA (n.*615_*617delinsGTA) c.9002_9004delinsGTA (p.Ser3001=) c.1469_1471delinsGTA (p.Ser490=) n.1180_1182delinsGTA c.9061_9063delinsGTA (n.9061_9063delinsGTA) c.1931_1933delinsGTA c.10_12delinsGTA c.8957_8959delinsGTA (p.Ser2986=) | |
13 | g.32379850T>A | CA387757547 | BRCA2 | c.9054T>A (p.Ser3018Arg) c.*421T>A (n.*421T>A) c.8685T>A (p.Ser2895Arg) c.*616T>A (n.*616T>A) c.9003T>A (p.Ser3001Arg) c.1470T>A (p.Ser490Arg) n.1181T>A c.9062T>A (n.9062T>A) c.1932T>A c.11T>A c.8958T>A (p.Ser2986Arg) | |
13 | g.32379850T>C | CA483439865 | BRCA2 | c.9054T>C (p.Ser3018=) c.*421T>C (n.*421T>C) c.8685T>C (p.Ser2895=) c.*616T>C (n.*616T>C) c.9003T>C (p.Ser3001=) c.1470T>C (p.Ser490=) n.1181T>C c.9062T>C (n.9062T>C) c.1932T>C c.11T>C c.8958T>C (p.Ser2986=) | |
13 | g.32379850T>G | CA387757548 | BRCA2 | c.9054T>G (p.Ser3018Arg) c.*421T>G (n.*421T>G) c.8685T>G (p.Ser2895Arg) c.*616T>G (n.*616T>G) c.9003T>G (p.Ser3001Arg) c.1470T>G (p.Ser490Arg) n.1181T>G c.9062T>G (n.9062T>G) c.1932T>G c.11T>G c.8958T>G (p.Ser2986Arg) | |
13 | g.32379850_32379851del | CA025945 | BRCA2 | c.9054_9055del (p.Ser3018ArgfsTer3) c.*421_*422del (n.*421_*422del) c.8685_8686del (p.Ser2895ArgfsTer3) c.*616_*617del (n.*616_*617del) c.9003_9004del (p.Ser3001ArgfsTer3) c.1470_1471del (p.Ser490ArgfsTer3) n.1181_1182del c.9062_9063del (n.9062_9063del) c.1932_1933del c.11_12del c.8958_8959del (p.Ser2986ArgfsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32379850_32379851delinsTA | CA2082838532 | BRCA2 | c.9054_9055delinsTA (p.Ser3018=) c.*421_*422delinsTA (n.*421_*422delinsTA) c.8685_8686delinsTA (p.Ser2895=) c.*616_*617delinsTA (n.*616_*617delinsTA) c.9003_9004delinsTA (p.Ser3001=) c.1470_1471delinsTA (p.Ser490=) n.1181_1182delinsTA c.9062_9063delinsTA (n.9062_9063delinsTA) c.1932_1933delinsTA c.11_12delinsTA c.8958_8959delinsTA (p.Ser2986=) | |
13 | g.32379851A>C | CA387757549 | BRCA2 | c.9055A>C (p.Lys3019Gln) c.*422A>C (n.*422A>C) c.8686A>C (p.Lys2896Gln) c.*617A>C (n.*617A>C) c.9004A>C (p.Lys3002Gln) c.1471A>C (p.Lys491Gln) n.1182A>C c.9063A>C (n.9063A>C) c.1933A>C c.12A>C c.8959A>C (p.Lys2987Gln) | |
13 | g.32379851A>G | CA387757550 | BRCA2 | c.9055A>G (p.Lys3019Glu) c.*422A>G (n.*422A>G) c.8686A>G (p.Lys2896Glu) c.*617A>G (n.*617A>G) c.9004A>G (p.Lys3002Glu) c.1471A>G (p.Lys491Glu) n.1182A>G c.9063A>G (n.9063A>G) c.1933A>G c.12A>G c.8959A>G (p.Lys2987Glu) | |
13 | g.32379851A>T | CA387757551 | BRCA2 | c.9055A>T (p.Lys3019Ter) c.*422A>T (n.*422A>T) c.8686A>T (p.Lys2896Ter) c.*617A>T (n.*617A>T) c.9004A>T (p.Lys3002Ter) c.1471A>T (p.Lys491Ter) n.1182A>T c.9063A>T (n.9063A>T) c.1933A>T c.12A>T c.8959A>T (p.Lys2987Ter) | dbSNP |
13 | g.32379853del | CA025947 | BRCA2 | c.9057del (p.Lys3019AsnfsTer9) c.*424del (n.*424del) c.8688del (p.Lys2896AsnfsTer9) c.*619del (n.*619del) c.9006del (p.Lys3002AsnfsTer9) c.1473del (p.Lys491AsnfsTer9) n.1184del c.9065del (n.9065del) c.1935del c.14del c.8961del (p.Lys2987AsnfsTer9) | ClinVar dbSNP |
13 | g.32379852A= | CA2082838540 | BRCA2 | c.9056A= (p.Lys3019=) c.*423A= (n.*423A=) c.8687A= (p.Lys2896=) c.*618A= (n.*618A=) c.9005A= (p.Lys3002=) c.1472A= (p.Lys491=) n.1183A= c.9064A= (n.9064A=) c.1934A= c.13A= c.8960A= (p.Lys2987=) | |
13 | g.32379852A>C | CA387757552 | BRCA2 | c.9056A>C (p.Lys3019Thr) c.*423A>C (n.*423A>C) c.8687A>C (p.Lys2896Thr) c.*618A>C (n.*618A>C) c.9005A>C (p.Lys3002Thr) c.1472A>C (p.Lys491Thr) n.1183A>C c.9064A>C (n.9064A>C) c.1934A>C c.13A>C c.8960A>C (p.Lys2987Thr) | ClinVar dbSNP |
13 | g.32379852A>G | CA387757553 | BRCA2 | c.9056A>G (p.Lys3019Arg) c.*423A>G (n.*423A>G) c.8687A>G (p.Lys2896Arg) c.*618A>G (n.*618A>G) c.9005A>G (p.Lys3002Arg) c.1472A>G (p.Lys491Arg) n.1183A>G c.9064A>G (n.9064A>G) c.1934A>G c.13A>G c.8960A>G (p.Lys2987Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.32379852A>T | CA387757554 | BRCA2 | c.9056A>T (p.Lys3019Ile) c.*423A>T (n.*423A>T) c.8687A>T (p.Lys2896Ile) c.*618A>T (n.*618A>T) c.9005A>T (p.Lys3002Ile) c.1472A>T (p.Lys491Ile) n.1183A>T c.9064A>T (n.9064A>T) c.1934A>T c.13A>T c.8960A>T (p.Lys2987Ile) | ClinVar dbSNP |
13 | g.32379853A= | CA2018046954 | BRCA2 | c.9057A= (p.Lys3019=) c.*424A= (n.*424A=) c.8688A= (p.Lys2896=) c.*619A= (n.*619A=) c.9006A= (p.Lys3002=) c.1473A= (p.Lys491=) n.1184A= c.9065A= (n.9065A=) c.1935A= c.14A= c.8961A= (p.Lys2987=) | |
13 | g.32379853A>C | CA387757555 | BRCA2 | c.9057A>C (p.Lys3019Asn) c.*424A>C (n.*424A>C) c.8688A>C (p.Lys2896Asn) c.*619A>C (n.*619A>C) c.9006A>C (p.Lys3002Asn) c.1473A>C (p.Lys491Asn) n.1184A>C c.9065A>C (n.9065A>C) c.1935A>C c.14A>C c.8961A>C (p.Lys2987Asn) | dbSNP |
13 | g.32379853A>G | CA025946 | BRCA2 | c.9057A>G (p.Lys3019=) c.*424A>G (n.*424A>G) c.8688A>G (p.Lys2896=) c.*619A>G (n.*619A>G) c.9006A>G (p.Lys3002=) c.1473A>G (p.Lys491=) n.1184A>G c.9065A>G (n.9065A>G) c.1935A>G c.14A>G c.8961A>G (p.Lys2987=) | ClinVar dbSNP |
13 | g.32379853A>T | CA387757556 | BRCA2 | c.9057A>T (p.Lys3019Asn) c.*424A>T (n.*424A>T) c.8688A>T (p.Lys2896Asn) c.*619A>T (n.*619A>T) c.9006A>T (p.Lys3002Asn) c.1473A>T (p.Lys491Asn) n.1184A>T c.9065A>T (n.9065A>T) c.1935A>T c.14A>T c.8961A>T (p.Lys2987Asn) | dbSNP |
13 | g.32379854T>A | CA387757557 | BRCA2 | c.9058T>A (p.Ser3020Thr) c.*425T>A (n.*425T>A) c.8689T>A (p.Ser2897Thr) c.*620T>A (n.*620T>A) c.9007T>A (p.Ser3003Thr) c.1474T>A (p.Ser492Thr) n.1185T>A c.9066T>A (n.9066T>A) c.1936T>A c.15T>A c.8962T>A (p.Ser2988Thr) | dbSNP COSMIC COSMIC |
13 | g.32379854T>C | CA025948 | BRCA2 | c.9058T>C (p.Ser3020Pro) c.*425T>C (n.*425T>C) c.8689T>C (p.Ser2897Pro) c.*620T>C (n.*620T>C) c.9007T>C (p.Ser3003Pro) c.1474T>C (p.Ser492Pro) n.1185T>C c.9066T>C (n.9066T>C) c.1936T>C c.15T>C c.8962T>C (p.Ser2988Pro) | ClinVar dbSNP |
13 | g.32379854T>G | CA387757558 | BRCA2 | c.9058T>G (p.Ser3020Ala) c.*425T>G (n.*425T>G) c.8689T>G (p.Ser2897Ala) c.*620T>G (n.*620T>G) c.9007T>G (p.Ser3003Ala) c.1474T>G (p.Ser492Ala) n.1185T>G c.9066T>G (n.9066T>G) c.1936T>G c.15T>G c.8962T>G (p.Ser2988Ala) | |
13 | g.32379854T= | CA2082838550 | BRCA2 | c.9058T= (p.Ser3020=) c.*425T= (n.*425T=) c.8689T= (p.Ser2897=) c.*620T= (n.*620T=) c.9007T= (p.Ser3003=) c.1474T= (p.Ser492=) n.1185T= c.9066T= (n.9066T=) c.1936T= c.15T= c.8962T= (p.Ser2988=) | |
13 | g.32379855C>A | CA387757559 | BRCA2 | c.9059C>A (p.Ser3020Tyr) c.*426C>A (n.*426C>A) c.8690C>A (p.Ser2897Tyr) c.*621C>A (n.*621C>A) c.9008C>A (p.Ser3003Tyr) c.1475C>A (p.Ser492Tyr) n.1186C>A c.9067C>A (n.9067C>A) c.1937C>A c.16C>A c.8963C>A (p.Ser2988Tyr) | dbSNP |
13 | g.32379855C= | CA2082838555 | BRCA2 | c.9059C= (p.Ser3020=) c.*426C= (n.*426C=) c.8690C= (p.Ser2897=) c.*621C= (n.*621C=) c.9008C= (p.Ser3003=) c.1475C= (p.Ser492=) n.1186C= c.9067C= (n.9067C=) c.1937C= c.16C= c.8963C= (p.Ser2988=) | |
13 | g.32379855C>G | CA025949 | BRCA2 | c.9059C>G (p.Ser3020Cys) c.*426C>G (n.*426C>G) c.8690C>G (p.Ser2897Cys) c.*621C>G (n.*621C>G) c.9008C>G (p.Ser3003Cys) c.1475C>G (p.Ser492Cys) n.1186C>G c.9067C>G (n.9067C>G) c.1937C>G c.16C>G c.8963C>G (p.Ser2988Cys) | ClinVar dbSNP |
13 | g.32379855C>T | CA387757560 | BRCA2 | c.9059C>T (p.Ser3020Phe) c.*426C>T (n.*426C>T) c.8690C>T (p.Ser2897Phe) c.*621C>T (n.*621C>T) c.9008C>T (p.Ser3003Phe) c.1475C>T (p.Ser492Phe) n.1186C>T c.9067C>T (n.9067C>T) c.1937C>T c.16C>T c.8963C>T (p.Ser2988Phe) | ClinVar dbSNP |
13 | g.32379855_32379856delinsCT | CA2082838558 | BRCA2 | c.9059_9060delinsCT (p.Ser3020=) c.*426_*427delinsCT (n.*426_*427delinsCT) c.8690_8691delinsCT (p.Ser2897=) c.*621_*622delinsCT (n.*621_*622delinsCT) c.9008_9009delinsCT (p.Ser3003=) c.1475_1476delinsCT (p.Ser492=) n.1186_1187delinsCT c.9067_9068delinsCT (n.9067_9068delinsCT) c.1937_1938delinsCT c.16_17delinsCT c.8963_8964delinsCT (p.Ser2988=) | |
13 | g.32379856del | CA025953 | BRCA2 | c.9060del (p.Glu3021LysfsTer7) c.*427del (n.*427del) c.8691del (p.Glu2898LysfsTer7) c.*622del (n.*622del) c.9009del (p.Glu3004LysfsTer7) c.1476del (p.Glu493LysfsTer7) n.1187del c.9068del (n.9068del) c.1938del c.17del c.8964del (p.Glu2989LysfsTer7) | ClinVar dbSNP |
13 | g.32379856T>A | CA483439866 | BRCA2 | c.9060T>A (p.Ser3020=) c.*427T>A (n.*427T>A) c.8691T>A (p.Ser2897=) c.*622T>A (n.*622T>A) c.9009T>A (p.Ser3003=) c.1476T>A (p.Ser492=) n.1187T>A c.9068T>A (n.9068T>A) c.1938T>A c.17T>A c.8964T>A (p.Ser2988=) | ClinVar dbSNP |
13 | g.32379856T>C | CA483439867 | BRCA2 | c.9060T>C (p.Ser3020=) c.*427T>C (n.*427T>C) c.8691T>C (p.Ser2897=) c.*622T>C (n.*622T>C) c.9009T>C (p.Ser3003=) c.1476T>C (p.Ser492=) n.1187T>C c.9068T>C (n.9068T>C) c.1938T>C c.17T>C c.8964T>C (p.Ser2988=) | dbSNP |
13 | g.32379856T>G | CA483439868 | BRCA2 | c.9060T>G (p.Ser3020=) c.*427T>G (n.*427T>G) c.8691T>G (p.Ser2897=) c.*622T>G (n.*622T>G) c.9009T>G (p.Ser3003=) c.1476T>G (p.Ser492=) n.1187T>G c.9068T>G (n.9068T>G) c.1938T>G c.17T>G c.8964T>G (p.Ser2988=) | |
13 | g.32379856_32379857insTT | CA025952 | BRCA2 | c.9060_9061insTT (p.Glu3021LeufsTer8) c.*427_*428insTT (n.*427_*428insTT) c.8691_8692insTT (p.Glu2898LeufsTer8) c.*622_*623insTT (n.*622_*623insTT) c.9009_9010insTT (p.Glu3004LeufsTer8) c.1476_1477insTT (p.Glu493LeufsTer8) n.1187_1188insTT c.9068_9069insTT (n.9068_9069insTT) c.1938_1939insTT c.17_18insTT c.8964_8965insTT (p.Glu2989LeufsTer8) | ClinVar dbSNP |
13 | g.32379856dup | CA10589543 | BRCA2 | c.9060dup (p.Glu3021Ter) c.*427dup (n.*427dup) c.8691dup (p.Glu2898Ter) c.*622dup (n.*622dup) c.9009dup (p.Glu3004Ter) c.1476dup (p.Glu493Ter) n.1187dup c.9068dup (n.9068dup) c.1938dup c.17dup c.8964dup (p.Glu2989Ter) | ClinVar dbSNP |
13 | g.32379857G>A | CA387757563 | BRCA2 | c.9061G>A (p.Glu3021Lys) c.*428G>A (n.*428G>A) c.8692G>A (p.Glu2898Lys) c.*623G>A (n.*623G>A) c.9010G>A (p.Glu3004Lys) c.1477G>A (p.Glu493Lys) n.1188G>A c.9069G>A (n.9069G>A) c.1939G>A c.18G>A c.8965G>A (p.Glu2989Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32379857G>C | CA387757562 | BRCA2 | c.9061G>C (p.Glu3021Gln) c.*428G>C (n.*428G>C) c.8692G>C (p.Glu2898Gln) c.*623G>C (n.*623G>C) c.9010G>C (p.Glu3004Gln) c.1477G>C (p.Glu493Gln) n.1188G>C c.9069G>C (n.9069G>C) c.1939G>C c.18G>C c.8965G>C (p.Glu2989Gln) | dbSNP gnomAD v4 |
13 | g.32379857G= | CA2082838580 | BRCA2 | c.9061G= (p.Glu3021=) c.*428G= (n.*428G=) c.8692G= (p.Glu2898=) c.*623G= (n.*623G=) c.9010G= (p.Glu3004=) c.1477G= (p.Glu493=) n.1188G= c.9069G= (n.9069G=) c.1939G= c.18G= c.8965G= (p.Glu2989=) | |
13 | g.32379857G>T | CA387757561 | BRCA2 | c.9061G>T (p.Glu3021Ter) c.*428G>T (n.*428G>T) c.8692G>T (p.Glu2898Ter) c.*623G>T (n.*623G>T) c.9010G>T (p.Glu3004Ter) c.1477G>T (p.Glu493Ter) n.1188G>T c.9069G>T (n.9069G>T) c.1939G>T c.18G>T c.8965G>T (p.Glu2989Ter) | ClinVar |
13 | g.32379858A>C | CA387757564 | BRCA2 | c.9062A>C (p.Glu3021Ala) c.*429A>C (n.*429A>C) c.8693A>C (p.Glu2898Ala) c.*624A>C (n.*624A>C) c.9011A>C (p.Glu3004Ala) c.1478A>C (p.Glu493Ala) n.1189A>C c.9070A>C (n.9070A>C) c.1940A>C c.19A>C c.8966A>C (p.Glu2989Ala) | |
13 | g.32379858A>G | CA387757565 | BRCA2 | c.9062A>G (p.Glu3021Gly) c.*429A>G (n.*429A>G) c.8693A>G (p.Glu2898Gly) c.*624A>G (n.*624A>G) c.9011A>G (p.Glu3004Gly) c.1478A>G (p.Glu493Gly) n.1189A>G c.9070A>G (n.9070A>G) c.1940A>G c.19A>G c.8966A>G (p.Glu2989Gly) | |
13 | g.32379858A>T | CA387757566 | BRCA2 | c.9062A>T (p.Glu3021Val) c.*429A>T (n.*429A>T) c.8693A>T (p.Glu2898Val) c.*624A>T (n.*624A>T) c.9011A>T (p.Glu3004Val) c.1478A>T (p.Glu493Val) n.1189A>T c.9070A>T (n.9070A>T) c.1940A>T c.19A>T c.8966A>T (p.Glu2989Val) | dbSNP |
13 | g.32379859_32379860dup | CA10589544 | BRCA2 | c.9063_9064dup (p.Arg3022LysfsTer7) c.*430_*431dup (n.*430_*431dup) c.8694_8695dup (p.Arg2899LysfsTer7) c.*625_*626dup (n.*625_*626dup) c.9012_9013dup (p.Arg3005LysfsTer7) c.1479_1480dup (p.Arg494LysfsTer7) n.1190_1191dup c.9071_9072dup (n.9071_9072dup) c.1941_1942dup c.20_21dup c.8967_8968dup (p.Arg2990LysfsTer7) | ClinVar dbSNP |
13 | g.32379860del | CA2580087494 | BRCA2 | c.9064del (p.Arg3022GlufsTer6) c.*431del (n.*431del) c.8695del (p.Arg2899GlufsTer6) c.*626del (n.*626del) c.9013del (p.Arg3005GlufsTer6) c.1480del (p.Arg494GlufsTer6) n.1191del c.9072del (n.9072del) c.1942del c.21del c.8968del (p.Arg2990GlufsTer6) | ClinVar |
13 | g.32379858_32379874delinsAAAGAGCTAACATACAG | CA2082838591 | BRCA2 | c.9062_9078delinsAAAGAGCTAACATACAG (p.Glu3021=) c.*429_*445delinsAAAGAGCTAACATACAG (n.*429_*445delinsAAAGAGCTAACATACAG) c.8693_8709delinsAAAGAGCTAACATACAG (p.Glu2898=) c.*624_*640delinsAAAGAGCTAACATACAG (n.*624_*640delinsAAAGAGCTAACATACAG) c.9011_9027delinsAAAGAGCTAACATACAG (p.Glu3004=) c.1478_1494delinsAAAGAGCTAACATACAG (p.Glu493=) n.1189_1205delinsAAAGAGCTAACATACAG c.9070_9086delinsAAAGAGCTAACATACAG (n.9070_9086delinsAAAGAGCTAACATACAG) c.1940_1956delinsAAAGAGCTAACATACAG c.19_35delinsAAAGAGCTAACATACAG c.8966_8982delinsAAAGAGCTAACATACAG (p.Glu2989=) | |
13 | g.32379859A= | CA2082838613 | BRCA2 | c.9063A= (p.Glu3021=) c.*430A= (n.*430A=) c.8694A= (p.Glu2898=) c.*625A= (n.*625A=) c.9012A= (p.Glu3004=) c.1479A= (p.Glu493=) n.1190A= c.9071A= (n.9071A=) c.1941A= c.20A= c.8967A= (p.Glu2989=) | |
13 | g.32379859A>C | CA387757567 | BRCA2 | c.9063A>C (p.Glu3021Asp) c.*430A>C (n.*430A>C) c.8694A>C (p.Glu2898Asp) c.*625A>C (n.*625A>C) c.9012A>C (p.Glu3004Asp) c.1479A>C (p.Glu493Asp) n.1190A>C c.9071A>C (n.9071A>C) c.1941A>C c.20A>C c.8967A>C (p.Glu2989Asp) | |
13 | g.32379859A>G | CA025955 | BRCA2 | c.9063A>G (p.Glu3021=) c.*430A>G (n.*430A>G) c.8694A>G (p.Glu2898=) c.*625A>G (n.*625A>G) c.9012A>G (p.Glu3004=) c.1479A>G (p.Glu493=) n.1190A>G c.9071A>G (n.9071A>G) c.1941A>G c.20A>G c.8967A>G (p.Glu2989=) | ClinVar dbSNP gnomAD v4 |
13 | g.32379859A>T | CA387757568 | BRCA2 | c.9063A>T (p.Glu3021Asp) c.*430A>T (n.*430A>T) c.8694A>T (p.Glu2898Asp) c.*625A>T (n.*625A>T) c.9012A>T (p.Glu3004Asp) c.1479A>T (p.Glu493Asp) n.1190A>T c.9071A>T (n.9071A>T) c.1941A>T c.20A>T c.8967A>T (p.Glu2989Asp) | dbSNP |
13 | g.32379859_32379860delinsAA | CA2082838602 | BRCA2 | c.9063_9064delinsAA (p.Glu3021=) c.*430_*431delinsAA (n.*430_*431delinsAA) c.8694_8695delinsAA (p.Glu2898=) c.*625_*626delinsAA (n.*625_*626delinsAA) c.9012_9013delinsAA (p.Glu3004=) c.1479_1480delinsAA (p.Glu493=) n.1190_1191delinsAA c.9071_9072delinsAA (n.9071_9072delinsAA) c.1941_1942delinsAA c.20_21delinsAA c.8967_8968delinsAA (p.Glu2989=) | |
13 | g.32379859_32379868delinsAAGAGCTAAC | CA2082838605 | BRCA2 | c.9063_9072delinsAAGAGCTAAC (p.Glu3021=) c.*430_*439delinsAAGAGCTAAC (n.*430_*439delinsAAGAGCTAAC) c.8694_8703delinsAAGAGCTAAC (p.Glu2898=) c.*625_*634delinsAAGAGCTAAC (n.*625_*634delinsAAGAGCTAAC) c.9012_9021delinsAAGAGCTAAC (p.Glu3004=) c.1479_1488delinsAAGAGCTAAC (p.Glu493=) n.1190_1199delinsAAGAGCTAAC c.9071_9080delinsAAGAGCTAAC (n.9071_9080delinsAAGAGCTAAC) c.1941_1950delinsAAGAGCTAAC c.20_29delinsAAGAGCTAAC c.8967_8976delinsAAGAGCTAAC (p.Glu2989=) | |
13 | g.32379859_32379874del | CA025954 | BRCA2 | c.9063_9078del (p.Glu3021AspfsTer2) c.*430_*445del (n.*430_*445del) c.8694_8709del (p.Glu2898AspfsTer2) c.*625_*640del (n.*625_*640del) c.9012_9027del (p.Glu3004AspfsTer2) c.1479_1494del (p.Glu493AspfsTer2) n.1190_1205del c.9071_9086del (n.9071_9086del) c.1941_1956del c.20_35del c.8967_8982del (p.Glu2989AspfsTer2) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32379860A= | CA2082838633 | BRCA2 | c.9064A= (p.Arg3022=) c.*431A= (n.*431A=) c.8695A= (p.Arg2899=) c.*626A= (n.*626A=) c.9013A= (p.Arg3005=) c.1480A= (p.Arg494=) n.1191A= c.9072A= (n.9072A=) c.1942A= c.21A= c.8968A= (p.Arg2990=) | |
13 | g.32379860A>C | CA483439869 | BRCA2 | c.9064A>C (p.Arg3022=) c.*431A>C (n.*431A>C) c.8695A>C (p.Arg2899=) c.*626A>C (n.*626A>C) c.9013A>C (p.Arg3005=) c.1480A>C (p.Arg494=) n.1191A>C c.9072A>C (n.9072A>C) c.1942A>C c.21A>C c.8968A>C (p.Arg2990=) | ClinVar dbSNP gnomAD v4 |
13 | g.32379860A>G | CA387757569 | BRCA2 | c.9064A>G (p.Arg3022Gly) c.*431A>G (n.*431A>G) c.8695A>G (p.Arg2899Gly) c.*626A>G (n.*626A>G) c.9013A>G (p.Arg3005Gly) c.1480A>G (p.Arg494Gly) n.1191A>G c.9072A>G (n.9072A>G) c.1942A>G c.21A>G c.8968A>G (p.Arg2990Gly) | dbSNP |
13 | g.32379860A>T | CA387757570 | BRCA2 | c.9064A>T (p.Arg3022Ter) c.*431A>T (n.*431A>T) c.8695A>T (p.Arg2899Ter) c.*626A>T (n.*626A>T) c.9013A>T (p.Arg3005Ter) c.1480A>T (p.Arg494Ter) n.1191A>T c.9072A>T (n.9072A>T) c.1942A>T c.21A>T c.8968A>T (p.Arg2990Ter) | dbSNP |
13 | g.32379860delinsGG | CA913190733 | BRCA2 | c.9064delinsGG (p.Arg3022GlyfsTer3) c.*431delinsGG (n.*431delinsGG) c.8695delinsGG (p.Arg2899GlyfsTer3) c.*626delinsGG (n.*626delinsGG) c.9013delinsGG (p.Arg3005GlyfsTer3) c.1480delinsGG (p.Arg494GlyfsTer3) n.1191delinsGG c.9072delinsGG (n.9072delinsGG) c.1942delinsGG c.21delinsGG c.8968delinsGG (p.Arg2990GlyfsTer3) | ClinVar dbSNP |
13 | g.32379861_32379869del | CA658798073 | BRCA2 | c.9065_9073del (p.Arg3022_Asn3024del) c.*432_*440del (n.*432_*440del) c.8696_8704del (p.Arg2899_Asn2901del) c.*627_*635del (n.*627_*635del) c.9014_9022del (p.Arg3005_Asn3007del) c.1481_1489del (p.Arg494_Asn496del) n.1192_1200del c.9073_9081del (n.9073_9081del) c.1943_1951del c.22_30del c.8969_8977del (p.Arg2990_Asn2992del) | ClinVar dbSNP |
13 | g.32379861G>A | CA387757571 | BRCA2 | c.9065G>A (p.Arg3022Lys) c.*432G>A (n.*432G>A) c.8696G>A (p.Arg2899Lys) c.*627G>A (n.*627G>A) c.9014G>A (p.Arg3005Lys) c.1481G>A (p.Arg494Lys) n.1192G>A c.9073G>A (n.9073G>A) c.1943G>A c.22G>A c.8969G>A (p.Arg2990Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379861G>C | CA387757572 | BRCA2 | c.9065G>C (p.Arg3022Thr) c.*432G>C (n.*432G>C) c.8696G>C (p.Arg2899Thr) c.*627G>C (n.*627G>C) c.9014G>C (p.Arg3005Thr) c.1481G>C (p.Arg494Thr) n.1192G>C c.9073G>C (n.9073G>C) c.1943G>C c.22G>C c.8969G>C (p.Arg2990Thr) | dbSNP |
13 | g.32379861G= | CA2082838638 | BRCA2 | c.9065G= (p.Arg3022=) c.*432G= (n.*432G=) c.8696G= (p.Arg2899=) c.*627G= (n.*627G=) c.9014G= (p.Arg3005=) c.1481G= (p.Arg494=) n.1192G= c.9073G= (n.9073G=) c.1943G= c.22G= c.8969G= (p.Arg2990=) | |
13 | g.32379861G>T | CA387757573 | BRCA2 | c.9065G>T (p.Arg3022Ile) c.*432G>T (n.*432G>T) c.8696G>T (p.Arg2899Ile) c.*627G>T (n.*627G>T) c.9014G>T (p.Arg3005Ile) c.1481G>T (p.Arg494Ile) n.1192G>T c.9073G>T (n.9073G>T) c.1943G>T c.22G>T c.8969G>T (p.Arg2990Ile) | |
13 | g.32379862A>C | CA387757574 | BRCA2 | c.9066A>C (p.Arg3022Ser) c.*433A>C (n.*433A>C) c.8697A>C (p.Arg2899Ser) c.*628A>C (n.*628A>C) c.9015A>C (p.Arg3005Ser) c.1482A>C (p.Arg494Ser) n.1193A>C c.9074A>C (n.9074A>C) c.1944A>C c.23A>C c.8970A>C (p.Arg2990Ser) | |
13 | g.32379862A>G | CA483439870 | BRCA2 | c.9066A>G (p.Arg3022=) c.*433A>G (n.*433A>G) c.8697A>G (p.Arg2899=) c.*628A>G (n.*628A>G) c.9015A>G (p.Arg3005=) c.1482A>G (p.Arg494=) n.1193A>G c.9074A>G (n.9074A>G) c.1944A>G c.23A>G c.8970A>G (p.Arg2990=) | |
13 | g.32379862A>T | CA387757575 | BRCA2 | c.9066A>T (p.Arg3022Ser) c.*433A>T (n.*433A>T) c.8697A>T (p.Arg2899Ser) c.*628A>T (n.*628A>T) c.9015A>T (p.Arg3005Ser) c.1482A>T (p.Arg494Ser) n.1193A>T c.9074A>T (n.9074A>T) c.1944A>T c.23A>T c.8970A>T (p.Arg2990Ser) | dbSNP |
13 | g.32379862_32379863insAA | CA025956 | BRCA2 | c.9066_9067insAA (p.Ala3023LysfsTer6) c.*433_*434insAA (n.*433_*434insAA) c.8697_8698insAA (p.Ala2900LysfsTer6) c.*628_*629insAA (n.*628_*629insAA) c.9015_9016insAA (p.Ala3006LysfsTer6) c.1482_1483insAA (p.Ala495LysfsTer6) n.1193_1194insAA c.9074_9075insAA (n.9074_9075insAA) c.1944_1945insAA c.23_24insAA c.8970_8971insAA (p.Ala2991LysfsTer6) | ClinVar dbSNP |
13 | g.32379863G>A | CA387757576 | BRCA2 | c.9067G>A (p.Ala3023Thr) c.*434G>A (n.*434G>A) c.8698G>A (p.Ala2900Thr) c.*629G>A (n.*629G>A) c.9016G>A (p.Ala3006Thr) c.1483G>A (p.Ala495Thr) n.1194G>A c.9075G>A (n.9075G>A) c.1945G>A c.24G>A c.8971G>A (p.Ala2991Thr) | ClinVar dbSNP |
13 | g.32379863G>C | CA387757578 | BRCA2 | c.9067G>C (p.Ala3023Pro) c.*434G>C (n.*434G>C) c.8698G>C (p.Ala2900Pro) c.*629G>C (n.*629G>C) c.9016G>C (p.Ala3006Pro) c.1483G>C (p.Ala495Pro) n.1194G>C c.9075G>C (n.9075G>C) c.1945G>C c.24G>C c.8971G>C (p.Ala2991Pro) | dbSNP |
13 | g.32379863G= | CA2082838651 | BRCA2 | c.9067G= (p.Ala3023=) c.*434G= (n.*434G=) c.8698G= (p.Ala2900=) c.*629G= (n.*629G=) c.9016G= (p.Ala3006=) c.1483G= (p.Ala495=) n.1194G= c.9075G= (n.9075G=) c.1945G= c.24G= c.8971G= (p.Ala2991=) | |
13 | g.32379863G>T | CA387757577 | BRCA2 | c.9067G>T (p.Ala3023Ser) c.*434G>T (n.*434G>T) c.8698G>T (p.Ala2900Ser) c.*629G>T (n.*629G>T) c.9016G>T (p.Ala3006Ser) c.1483G>T (p.Ala495Ser) n.1194G>T c.9075G>T (n.9075G>T) c.1945G>T c.24G>T c.8971G>T (p.Ala2991Ser) | ClinVar dbSNP |
13 | g.32379863_32379871delinsGCTAACATA | CA2082838647 | BRCA2 | c.9067_9075delinsGCTAACATA (p.Ala3023=) c.*434_*442delinsGCTAACATA (n.*434_*442delinsGCTAACATA) c.8698_8706delinsGCTAACATA (p.Ala2900=) c.*629_*637delinsGCTAACATA (n.*629_*637delinsGCTAACATA) c.9016_9024delinsGCTAACATA (p.Ala3006=) c.1483_1491delinsGCTAACATA (p.Ala495=) n.1194_1202delinsGCTAACATA c.9075_9083delinsGCTAACATA (n.9075_9083delinsGCTAACATA) c.1945_1953delinsGCTAACATA c.24_32delinsGCTAACATA c.8971_8979delinsGCTAACATA (p.Ala2991=) | |
13 | g.32379864C>A | CA387757579 | BRCA2 | c.9068C>A (p.Ala3023Asp) c.*435C>A (n.*435C>A) c.8699C>A (p.Ala2900Asp) c.*630C>A (n.*630C>A) c.9017C>A (p.Ala3006Asp) c.1484C>A (p.Ala495Asp) n.1195C>A c.9076C>A (n.9076C>A) c.1946C>A c.25C>A c.8972C>A (p.Ala2991Asp) | dbSNP |
13 | g.32379864C= | CA2082838663 | BRCA2 | c.9068C= (p.Ala3023=) c.*435C= (n.*435C=) c.8699C= (p.Ala2900=) c.*630C= (n.*630C=) c.9017C= (p.Ala3006=) c.1484C= (p.Ala495=) n.1195C= c.9076C= (n.9076C=) c.1946C= c.25C= c.8972C= (p.Ala2991=) | |
13 | g.32379864C>G | CA387757580 | BRCA2 | c.9068C>G (p.Ala3023Gly) c.*435C>G (n.*435C>G) c.8699C>G (p.Ala2900Gly) c.*630C>G (n.*630C>G) c.9017C>G (p.Ala3006Gly) c.1484C>G (p.Ala495Gly) n.1195C>G c.9076C>G (n.9076C>G) c.1946C>G c.25C>G c.8972C>G (p.Ala2991Gly) | ClinVar dbSNP |
13 | g.32379864C>T | CA387757581 | BRCA2 | c.9068C>T (p.Ala3023Val) c.*435C>T (n.*435C>T) c.8699C>T (p.Ala2900Val) c.*630C>T (n.*630C>T) c.9017C>T (p.Ala3006Val) c.1484C>T (p.Ala495Val) n.1195C>T c.9076C>T (n.9076C>T) c.1946C>T c.25C>T c.8972C>T (p.Ala2991Val) | dbSNP |
13 | g.32379865_32379872del | CA025957 | BRCA2 | c.9069_9076del (p.Asn3024ValfsTer17) c.*436_*443del (n.*436_*443del) c.8700_8707del (p.Asn2901ValfsTer17) c.*631_*638del (n.*631_*638del) c.9018_9025del (p.Asn3007ValfsTer17) c.1485_1492del (p.Asn496ValfsTer17) n.1196_1203del c.9077_9084del (n.9077_9084del) c.1947_1954del c.26_33del c.8973_8980del (p.Asn2992ValfsTer17) | ClinVar dbSNP gnomAD v4 |
13 | g.32379865T>A | CA483439871 | BRCA2 | c.9069T>A (p.Ala3023=) c.*436T>A (n.*436T>A) c.8700T>A (p.Ala2900=) c.*631T>A (n.*631T>A) c.9018T>A (p.Ala3006=) c.1485T>A (p.Ala495=) n.1196T>A c.9077T>A (n.9077T>A) c.1947T>A c.26T>A c.8973T>A (p.Ala2991=) | ClinVar |
13 | g.32379865T>C | CA483439872 | BRCA2 | c.9069T>C (p.Ala3023=) c.*436T>C (n.*436T>C) c.8700T>C (p.Ala2900=) c.*631T>C (n.*631T>C) c.9018T>C (p.Ala3006=) c.1485T>C (p.Ala495=) n.1196T>C c.9077T>C (n.9077T>C) c.1947T>C c.26T>C c.8973T>C (p.Ala2991=) | gnomAD v4 |
13 | g.32379865T>G | CA483439873 | BRCA2 | c.9069T>G (p.Ala3023=) c.*436T>G (n.*436T>G) c.8700T>G (p.Ala2900=) c.*631T>G (n.*631T>G) c.9018T>G (p.Ala3006=) c.1485T>G (p.Ala495=) n.1196T>G c.9077T>G (n.9077T>G) c.1947T>G c.26T>G c.8973T>G (p.Ala2991=) | ClinVar dbSNP |
13 | g.32379865T= | CA2082838692 | BRCA2 | c.9069T= (p.Ala3023=) c.*436T= (n.*436T=) c.8700T= (p.Ala2900=) c.*631T= (n.*631T=) c.9018T= (p.Ala3006=) c.1485T= (p.Ala495=) n.1196T= c.9077T= (n.9077T=) c.1947T= c.26T= c.8973T= (p.Ala2991=) | |
13 | g.32379865_32379869delinsTAACA | CA2082838703 | BRCA2 | c.9069_9073delinsTAACA (p.Ala3023=) c.*436_*440delinsTAACA (n.*436_*440delinsTAACA) c.8700_8704delinsTAACA (p.Ala2900=) c.*631_*635delinsTAACA (n.*631_*635delinsTAACA) c.9018_9022delinsTAACA (p.Ala3006=) c.1485_1489delinsTAACA (p.Ala495=) n.1196_1200delinsTAACA c.9077_9081delinsTAACA (n.9077_9081delinsTAACA) c.1947_1951delinsTAACA c.26_30delinsTAACA c.8973_8977delinsTAACA (p.Ala2991=) | |
13 | g.32379866A= | CA2082838715 | BRCA2 | c.9070A= (p.Asn3024=) c.*437A= (n.*437A=) c.8701A= (p.Asn2901=) c.*632A= (n.*632A=) c.9019A= (p.Asn3007=) c.1486A= (p.Asn496=) n.1197A= c.9078A= (n.9078A=) c.1948A= c.27A= c.8974A= (p.Asn2992=) | |
13 | g.32379866A>C | CA387757582 | BRCA2 | c.9070A>C (p.Asn3024His) c.*437A>C (n.*437A>C) c.8701A>C (p.Asn2901His) c.*632A>C (n.*632A>C) c.9019A>C (p.Asn3007His) c.1486A>C (p.Asn496His) n.1197A>C c.9078A>C (n.9078A>C) c.1948A>C c.27A>C c.8974A>C (p.Asn2992His) | |
13 | g.32379866A>G | CA387757583 | BRCA2 | c.9070A>G (p.Asn3024Asp) c.*437A>G (n.*437A>G) c.8701A>G (p.Asn2901Asp) c.*632A>G (n.*632A>G) c.9019A>G (p.Asn3007Asp) c.1486A>G (p.Asn496Asp) n.1197A>G c.9078A>G (n.9078A>G) c.1948A>G c.27A>G c.8974A>G (p.Asn2992Asp) | ClinVar dbSNP |
13 | g.32379866A>T | CA387757584 | BRCA2 | c.9070A>T (p.Asn3024Tyr) c.*437A>T (n.*437A>T) c.8701A>T (p.Asn2901Tyr) c.*632A>T (n.*632A>T) c.9019A>T (p.Asn3007Tyr) c.1486A>T (p.Asn496Tyr) n.1197A>T c.9078A>T (n.9078A>T) c.1948A>T c.27A>T c.8974A>T (p.Asn2992Tyr) | dbSNP |
13 | g.32379866_32379869del | CA919243127 | BRCA2 | c.9070_9073del (p.Asn3024TyrfsTer3) c.*437_*440del (n.*437_*440del) c.8701_8704del (p.Asn2901TyrfsTer3) c.*632_*635del (n.*632_*635del) c.9019_9022del (p.Asn3007TyrfsTer3) c.1486_1489del (p.Asn496TyrfsTer3) n.1197_1200del c.9078_9081del (n.9078_9081del) c.1948_1951del c.27_30del c.8974_8977del (p.Asn2992TyrfsTer3) | dbSNP |
13 | g.32379867A= | CA2082838721 | BRCA2 | c.9071A= (p.Asn3024=) c.*438A= (n.*438A=) c.8702A= (p.Asn2901=) c.*633A= (n.*633A=) c.9020A= (p.Asn3007=) c.1487A= (p.Asn496=) n.1198A= c.9079A= (n.9079A=) c.1949A= c.28A= c.8975A= (p.Asn2992=) | |
13 | g.32379867A>C | CA025959 | BRCA2 | c.9071A>C (p.Asn3024Thr) c.*438A>C (n.*438A>C) c.8702A>C (p.Asn2901Thr) c.*633A>C (n.*633A>C) c.9020A>C (p.Asn3007Thr) c.1487A>C (p.Asn496Thr) n.1198A>C c.9079A>C (n.9079A>C) c.1949A>C c.28A>C c.8975A>C (p.Asn2992Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32379867A>G | CA387757585 | BRCA2 | c.9071A>G (p.Asn3024Ser) c.*438A>G (n.*438A>G) c.8702A>G (p.Asn2901Ser) c.*633A>G (n.*633A>G) c.9020A>G (p.Asn3007Ser) c.1487A>G (p.Asn496Ser) n.1198A>G c.9079A>G (n.9079A>G) c.1949A>G c.28A>G c.8975A>G (p.Asn2992Ser) | dbSNP |
13 | g.32379867A>T | CA387757586 | BRCA2 | c.9071A>T (p.Asn3024Ile) c.*438A>T (n.*438A>T) c.8702A>T (p.Asn2901Ile) c.*633A>T (n.*633A>T) c.9020A>T (p.Asn3007Ile) c.1487A>T (p.Asn496Ile) n.1198A>T c.9079A>T (n.9079A>T) c.1949A>T c.28A>T c.8975A>T (p.Asn2992Ile) | dbSNP |
13 | g.32379870_32379873del | CA2573149236 | BRCA2 | c.9074_9077del (p.Ile3025SerfsTer2) c.*441_*444del (n.*441_*444del) c.8705_8708del (p.Ile2902SerfsTer2) c.*636_*639del (n.*636_*639del) c.9023_9026del (p.Ile3008SerfsTer2) c.1490_1493del (p.Ile497SerfsTer2) n.1201_1204del c.9082_9085del (n.9082_9085del) c.1952_1955del c.31_34del c.8978_8981del (p.Ile2993SerfsTer2) | ClinVar dbSNP |
13 | g.32379868C>A | CA387757587 | BRCA2 | c.9072C>A (p.Asn3024Lys) c.*439C>A (n.*439C>A) c.8703C>A (p.Asn2901Lys) c.*634C>A (n.*634C>A) c.9021C>A (p.Asn3007Lys) c.1488C>A (p.Asn496Lys) n.1199C>A c.9080C>A (n.9080C>A) c.1950C>A c.29C>A c.8976C>A (p.Asn2992Lys) | dbSNP |
13 | g.32379868C= | CA2082838735 | BRCA2 | c.9072C= (p.Asn3024=) c.*439C= (n.*439C=) c.8703C= (p.Asn2901=) c.*634C= (n.*634C=) c.9021C= (p.Asn3007=) c.1488C= (p.Asn496=) n.1199C= c.9080C= (n.9080C=) c.1950C= c.29C= c.8976C= (p.Asn2992=) | |
13 | g.32379868C>G | CA387757588 | BRCA2 | c.9072C>G (p.Asn3024Lys) c.*439C>G (n.*439C>G) c.8703C>G (p.Asn2901Lys) c.*634C>G (n.*634C>G) c.9021C>G (p.Asn3007Lys) c.1488C>G (p.Asn496Lys) n.1199C>G c.9080C>G (n.9080C>G) c.1950C>G c.29C>G c.8976C>G (p.Asn2992Lys) | dbSNP |
13 | g.32379868C>T | CA483439874 | BRCA2 | c.9072C>T (p.Asn3024=) c.*439C>T (n.*439C>T) c.8703C>T (p.Asn2901=) c.*634C>T (n.*634C>T) c.9021C>T (p.Asn3007=) c.1488C>T (p.Asn496=) n.1199C>T c.9080C>T (n.9080C>T) c.1950C>T c.29C>T c.8976C>T (p.Asn2992=) | ClinVar dbSNP |
13 | g.32379868_32379870delinsCAT | CA2082838729 | BRCA2 | c.9072_9074delinsCAT (p.Asn3024=) c.*439_*441delinsCAT (n.*439_*441delinsCAT) c.8703_8705delinsCAT (p.Asn2901=) c.*634_*636delinsCAT (n.*634_*636delinsCAT) c.9021_9023delinsCAT (p.Asn3007=) c.1488_1490delinsCAT (p.Asn496=) n.1199_1201delinsCAT c.9080_9082delinsCAT (n.9080_9082delinsCAT) c.1950_1952delinsCAT c.29_31delinsCAT c.8976_8978delinsCAT (p.Asn2992=) | |
13 | g.32379869A= | CA2082838750 | BRCA2 | c.9073A= (p.Ile3025=) c.*440A= (n.*440A=) c.8704A= (p.Ile2902=) c.*635A= (n.*635A=) c.9022A= (p.Ile3008=) c.1489A= (p.Ile497=) n.1200A= c.9081A= (n.9081A=) c.1951A= c.30A= c.8977A= (p.Ile2993=) | |
13 | g.32379869A>C | CA387757589 | BRCA2 | c.9073A>C (p.Ile3025Leu) c.*440A>C (n.*440A>C) c.8704A>C (p.Ile2902Leu) c.*635A>C (n.*635A>C) c.9022A>C (p.Ile3008Leu) c.1489A>C (p.Ile497Leu) n.1200A>C c.9081A>C (n.9081A>C) c.1951A>C c.30A>C c.8977A>C (p.Ile2993Leu) | |
13 | g.32379869A>G | CA10586085 | BRCA2 | c.9073A>G (p.Ile3025Val) c.*440A>G (n.*440A>G) c.8704A>G (p.Ile2902Val) c.*635A>G (n.*635A>G) c.9022A>G (p.Ile3008Val) c.1489A>G (p.Ile497Val) n.1200A>G c.9081A>G (n.9081A>G) c.1951A>G c.30A>G c.8977A>G (p.Ile2993Val) | ClinVar dbSNP gnomAD v4 |
13 | g.32379869A>T | CA387757590 | BRCA2 | c.9073A>T (p.Ile3025Leu) c.*440A>T (n.*440A>T) c.8704A>T (p.Ile2902Leu) c.*635A>T (n.*635A>T) c.9022A>T (p.Ile3008Leu) c.1489A>T (p.Ile497Leu) n.1200A>T c.9081A>T (n.9081A>T) c.1951A>T c.30A>T c.8977A>T (p.Ile2993Leu) | dbSNP |
13 | g.32379870_32379871del | CA025960 | BRCA2 | c.9074_9075del (p.Ile3025ThrfsTer18) c.*441_*442del (n.*441_*442del) c.8705_8706del (p.Ile2902ThrfsTer18) c.*636_*637del (n.*636_*637del) c.9023_9024del (p.Ile3008ThrfsTer18) c.1490_1491del (p.Ile497ThrfsTer18) n.1201_1202del c.9082_9083del (n.9082_9083del) c.1952_1953del c.31_32del c.8978_8979del (p.Ile2993ThrfsTer18) | ClinVar dbSNP gnomAD v4 |
13 | g.32379869_32379874del | CA2573149237 | BRCA2 | c.9073_9078del (p.Ile3025_Gln3026del) c.*440_*445del (n.*440_*445del) c.8704_8709del (p.Ile2902_Gln2903del) c.*635_*640del (n.*635_*640del) c.9022_9027del (p.Ile3008_Gln3009del) c.1489_1494del (p.Ile497_Gln498del) n.1200_1205del c.9081_9086del (n.9081_9086del) c.1951_1956del c.30_35del c.8977_8982del (p.Ile2993_Gln2994del) | ClinVar dbSNP |
13 | g.32379870T>A | CA387757591 | BRCA2 | c.9074T>A (p.Ile3025Lys) c.*441T>A (n.*441T>A) c.8705T>A (p.Ile2902Lys) c.*636T>A (n.*636T>A) c.9023T>A (p.Ile3008Lys) c.1490T>A (p.Ile497Lys) n.1201T>A c.9082T>A (n.9082T>A) c.1952T>A c.31T>A c.8978T>A (p.Ile2993Lys) | |
13 | g.32379870T>C | CA387757592 | BRCA2 | c.9074T>C (p.Ile3025Thr) c.*441T>C (n.*441T>C) c.8705T>C (p.Ile2902Thr) c.*636T>C (n.*636T>C) c.9023T>C (p.Ile3008Thr) c.1490T>C (p.Ile497Thr) n.1201T>C c.9082T>C (n.9082T>C) c.1952T>C c.31T>C c.8978T>C (p.Ile2993Thr) | ClinVar dbSNP gnomAD v4 |
13 | g.32379870T>G | CA387757593 | BRCA2 | c.9074T>G (p.Ile3025Arg) c.*441T>G (n.*441T>G) c.8705T>G (p.Ile2902Arg) c.*636T>G (n.*636T>G) c.9023T>G (p.Ile3008Arg) c.1490T>G (p.Ile497Arg) n.1201T>G c.9082T>G (n.9082T>G) c.1952T>G c.31T>G c.8978T>G (p.Ile2993Arg) | |
13 | g.32379870T= | CA2082838755 | BRCA2 | c.9074T= (p.Ile3025=) c.*441T= (n.*441T=) c.8705T= (p.Ile2902=) c.*636T= (n.*636T=) c.9023T= (p.Ile3008=) c.1490T= (p.Ile497=) n.1201T= c.9082T= (n.9082T=) c.1952T= c.31T= c.8978T= (p.Ile2993=) | |
13 | g.32379871A>C | CA483439875 | BRCA2 | c.9075A>C (p.Ile3025=) c.*442A>C (n.*442A>C) c.8706A>C (p.Ile2902=) c.*637A>C (n.*637A>C) c.9024A>C (p.Ile3008=) c.1491A>C (p.Ile497=) n.1202A>C c.9083A>C (n.9083A>C) c.1953A>C c.32A>C c.8979A>C (p.Ile2993=) | dbSNP |
13 | g.32379871A>G | CA387757594 | BRCA2 | c.9075A>G (p.Ile3025Met) c.*442A>G (n.*442A>G) c.8706A>G (p.Ile2902Met) c.*637A>G (n.*637A>G) c.9024A>G (p.Ile3008Met) c.1491A>G (p.Ile497Met) n.1202A>G c.9083A>G (n.9083A>G) c.1953A>G c.32A>G c.8979A>G (p.Ile2993Met) | ClinVar dbSNP gnomAD v4 |
13 | g.32379871A>T | CA483439876 | BRCA2 | c.9075A>T (p.Ile3025=) c.*442A>T (n.*442A>T) c.8706A>T (p.Ile2902=) c.*637A>T (n.*637A>T) c.9024A>T (p.Ile3008=) c.1491A>T (p.Ile497=) n.1202A>T c.9083A>T (n.9083A>T) c.1953A>T c.32A>T c.8979A>T (p.Ile2993=) | dbSNP |
13 | g.32379871dup | CA1139663159 | BRCA2 | c.9075dup (p.Gln3026ThrfsTer18) c.*442dup (n.*442dup) c.8706dup (p.Gln2903ThrfsTer18) c.*637dup (n.*637dup) c.9024dup (p.Gln3009ThrfsTer18) c.1491dup (p.Gln498ThrfsTer18) n.1202dup c.9083dup (n.9083dup) c.1953dup c.32dup c.8979dup (p.Gln2994ThrfsTer18) | ClinVar dbSNP |
13 | g.32379872_32379873del | CA2573149238 | BRCA2 | c.9076_9077del (p.Gln3026ValfsTer17) c.*443_*444del (n.*443_*444del) c.8707_8708del (p.Gln2903ValfsTer17) c.*638_*639del (n.*638_*639del) c.9025_9026del (p.Gln3009ValfsTer17) c.1492_1493del (p.Gln498ValfsTer17) n.1203_1204del c.9084_9085del (n.9084_9085del) c.1954_1955del c.33_34del c.8980_8981del (p.Gln2994ValfsTer17) | ClinVar dbSNP |
13 | g.32379872C>A | CA387757595 | BRCA2 | c.9076C>A (p.Gln3026Lys) c.*443C>A (n.*443C>A) c.8707C>A (p.Gln2903Lys) c.*638C>A (n.*638C>A) c.9025C>A (p.Gln3009Lys) c.1492C>A (p.Gln498Lys) n.1203C>A c.9084C>A (n.9084C>A) c.1954C>A c.33C>A c.8980C>A (p.Gln2994Lys) | dbSNP |
13 | g.32379872C= | CA2082838767 | BRCA2 | c.9076C= (p.Gln3026=) c.*443C= (n.*443C=) c.8707C= (p.Gln2903=) c.*638C= (n.*638C=) c.9025C= (p.Gln3009=) c.1492C= (p.Gln498=) n.1203C= c.9084C= (n.9084C=) c.1954C= c.33C= c.8980C= (p.Gln2994=) | |
13 | g.32379872C>G | CA025961 | BRCA2 | c.9076C>G (p.Gln3026Glu) c.*443C>G (n.*443C>G) c.8707C>G (p.Gln2903Glu) c.*638C>G (n.*638C>G) c.9025C>G (p.Gln3009Glu) c.1492C>G (p.Gln498Glu) n.1203C>G c.9084C>G (n.9084C>G) c.1954C>G c.33C>G c.8980C>G (p.Gln2994Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32379872C>T | CA025962 | BRCA2 | c.9076C>T (p.Gln3026Ter) c.*443C>T (n.*443C>T) c.8707C>T (p.Gln2903Ter) c.*638C>T (n.*638C>T) c.9025C>T (p.Gln3009Ter) c.1492C>T (p.Gln498Ter) n.1203C>T c.9084C>T (n.9084C>T) c.1954C>T c.33C>T c.8980C>T (p.Gln2994Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
13 | g.32379875_32379881del | CA2580087495 | BRCA2 | c.9079_9085del (p.Leu3027ArgfsTer?) c.*446_*452del (n.*446_*452del) c.8710_8716del (p.Leu2904ArgfsTer?) c.*641_*647del (n.*641_*647del) c.9028_9034del (p.Leu3010ArgfsTer?) c.1495_1501del (p.Leu499ArgfsTer?) n.1206_1212del c.9087_9093del (n.9087_9093del) c.1957_1963del c.36_42del c.8983_8989del (p.Leu2995ArgfsTer?) | ClinVar |
13 | g.32379873A>C | CA387757596 | BRCA2 | c.9077A>C (p.Gln3026Pro) c.*444A>C (n.*444A>C) c.8708A>C (p.Gln2903Pro) c.*639A>C (n.*639A>C) c.9026A>C (p.Gln3009Pro) c.1493A>C (p.Gln498Pro) n.1204A>C c.9085A>C (n.9085A>C) c.1955A>C c.34A>C c.8981A>C (p.Gln2994Pro) | |
13 | g.32379873A>G | CA387757597 | BRCA2 | c.9077A>G (p.Gln3026Arg) c.*444A>G (n.*444A>G) c.8708A>G (p.Gln2903Arg) c.*639A>G (n.*639A>G) c.9026A>G (p.Gln3009Arg) c.1493A>G (p.Gln498Arg) n.1204A>G c.9085A>G (n.9085A>G) c.1955A>G c.34A>G c.8981A>G (p.Gln2994Arg) | dbSNP |
13 | g.32379873A>T | CA387757598 | BRCA2 | c.9077A>T (p.Gln3026Leu) c.*444A>T (n.*444A>T) c.8708A>T (p.Gln2903Leu) c.*639A>T (n.*639A>T) c.9026A>T (p.Gln3009Leu) c.1493A>T (p.Gln498Leu) n.1204A>T c.9085A>T (n.9085A>T) c.1955A>T c.34A>T c.8981A>T (p.Gln2994Leu) | dbSNP |
13 | g.32379874_32379892dup | CA2499222362 | BRCA2 | c.9078_9096dup (p.Thr3033ValfsTer17) c.*445_*463dup (n.*445_*463dup) c.8709_8727dup (p.Thr2910ValfsTer17) c.*640_*658dup (n.*640_*658dup) c.9027_9045dup (p.Thr3016ValfsTer17) c.1494_1512dup (p.Thr505ValfsTer17) n.1205_1223dup c.9086_9104dup (n.9086_9104dup) c.1956_1974dup c.35_53dup c.8982_9000dup (p.Thr3001ValfsTer17) | ClinVar dbSNP |
13 | g.32379874G>A | CA483439877 | BRCA2 | c.9078G>A (p.Gln3026=) c.*445G>A (n.*445G>A) c.8709G>A (p.Gln2903=) c.*640G>A (n.*640G>A) c.9027G>A (p.Gln3009=) c.1494G>A (p.Gln498=) n.1205G>A c.9086G>A (n.9086G>A) c.1956G>A c.35G>A c.8982G>A (p.Gln2994=) | ClinVar dbSNP |
13 | g.32379874G>C | CA387757600 | BRCA2 | c.9078G>C (p.Gln3026His) c.*445G>C (n.*445G>C) c.8709G>C (p.Gln2903His) c.*640G>C (n.*640G>C) c.9027G>C (p.Gln3009His) c.1494G>C (p.Gln498His) n.1205G>C c.9086G>C (n.9086G>C) c.1956G>C c.35G>C c.8982G>C (p.Gln2994His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32379874G= | CA2082838770 | BRCA2 | c.9078G= (p.Gln3026=) c.*445G= (n.*445G=) c.8709G= (p.Gln2903=) c.*640G= (n.*640G=) c.9027G= (p.Gln3009=) c.1494G= (p.Gln498=) n.1205G= c.9086G= (n.9086G=) c.1956G= c.35G= c.8982G= (p.Gln2994=) | |
13 | g.32379874G>T | CA387757601 | BRCA2 | c.9078G>T (p.Gln3026His) c.*445G>T (n.*445G>T) c.8709G>T (p.Gln2903His) c.*640G>T (n.*640G>T) c.9027G>T (p.Gln3009His) c.1494G>T (p.Gln498His) n.1205G>T c.9086G>T (n.9086G>T) c.1956G>T c.35G>T c.8982G>T (p.Gln2994His) | |
13 | g.32379875T>A | CA387757605 | BRCA2 | c.9079T>A (p.Leu3027Ile) c.*446T>A (n.*446T>A) c.8710T>A (p.Leu2904Ile) c.*641T>A (n.*641T>A) c.9028T>A (p.Leu3010Ile) c.1495T>A (p.Leu499Ile) n.1206T>A c.9087T>A (n.9087T>A) c.1957T>A c.36T>A c.8983T>A (p.Leu2995Ile) | ClinVar dbSNP |
13 | g.32379875T>C | CA483439878 | BRCA2 | c.9079T>C (p.Leu3027=) c.*446T>C (n.*446T>C) c.8710T>C (p.Leu2904=) c.*641T>C (n.*641T>C) c.9028T>C (p.Leu3010=) c.1495T>C (p.Leu499=) n.1206T>C c.9087T>C (n.9087T>C) c.1957T>C c.36T>C c.8983T>C (p.Leu2995=) | dbSNP |
13 | g.32379875T>G | CA387757603 | BRCA2 | c.9079T>G (p.Leu3027Val) c.*446T>G (n.*446T>G) c.8710T>G (p.Leu2904Val) c.*641T>G (n.*641T>G) c.9028T>G (p.Leu3010Val) c.1495T>G (p.Leu499Val) n.1206T>G c.9087T>G (n.9087T>G) c.1957T>G c.36T>G c.8983T>G (p.Leu2995Val) | ClinVar dbSNP |
13 | g.32379875T= | CA2082838777 | BRCA2 | c.9079T= (p.Leu3027=) c.*446T= (n.*446T=) c.8710T= (p.Leu2904=) c.*641T= (n.*641T=) c.9028T= (p.Leu3010=) c.1495T= (p.Leu499=) n.1206T= c.9087T= (n.9087T=) c.1957T= c.36T= c.8983T= (p.Leu2995=) | |
13 | g.32379876T>A | CA387757606 | BRCA2 | c.9080T>A (p.Leu3027Ter) c.*447T>A (n.*447T>A) c.8711T>A (p.Leu2904Ter) c.*642T>A (n.*642T>A) c.9029T>A (p.Leu3010Ter) c.1496T>A (p.Leu499Ter) n.1207T>A c.9088T>A (n.9088T>A) c.1958T>A c.37T>A c.8984T>A (p.Leu2995Ter) | dbSNP |
13 | g.32379876T>C | CA387757608 | BRCA2 | c.9080T>C (p.Leu3027Ser) c.*447T>C (n.*447T>C) c.8711T>C (p.Leu2904Ser) c.*642T>C (n.*642T>C) c.9029T>C (p.Leu3010Ser) c.1496T>C (p.Leu499Ser) n.1207T>C c.9088T>C (n.9088T>C) c.1958T>C c.37T>C c.8984T>C (p.Leu2995Ser) | dbSNP |
13 | g.32379876T>G | CA387757610 | BRCA2 | c.9080T>G (p.Leu3027Ter) c.*447T>G (n.*447T>G) c.8711T>G (p.Leu2904Ter) c.*642T>G (n.*642T>G) c.9029T>G (p.Leu3010Ter) c.1496T>G (p.Leu499Ter) n.1207T>G c.9088T>G (n.9088T>G) c.1958T>G c.37T>G c.8984T>G (p.Leu2995Ter) | dbSNP |
13 | g.32379876_32379879delinsTAGC | CA2082838787 | BRCA2 | c.9080_9083delinsTAGC (p.Leu3027=) c.*447_*450delinsTAGC (n.*447_*450delinsTAGC) c.8711_8714delinsTAGC (p.Leu2904=) c.*642_*645delinsTAGC (n.*642_*645delinsTAGC) c.9029_9032delinsTAGC (p.Leu3010=) c.1496_1499delinsTAGC (p.Leu499=) n.1207_1210delinsTAGC c.9088_9091delinsTAGC (n.9088_9091delinsTAGC) c.1958_1961delinsTAGC c.37_40delinsTAGC c.8984_8987delinsTAGC (p.Leu2995=) | |
13 | g.32379877A>C | CA387757611 | BRCA2 | c.9081A>C (p.Leu3027Phe) c.*448A>C (n.*448A>C) c.8712A>C (p.Leu2904Phe) c.*643A>C (n.*643A>C) c.9030A>C (p.Leu3010Phe) c.1497A>C (p.Leu499Phe) n.1208A>C c.9089A>C (n.9089A>C) c.1959A>C c.38A>C c.8985A>C (p.Leu2995Phe) | |
13 | g.32379877A>G | CA483439879 | BRCA2 | c.9081A>G (p.Leu3027=) c.*448A>G (n.*448A>G) c.8712A>G (p.Leu2904=) c.*643A>G (n.*643A>G) c.9030A>G (p.Leu3010=) c.1497A>G (p.Leu499=) n.1208A>G c.9089A>G (n.9089A>G) c.1959A>G c.38A>G c.8985A>G (p.Leu2995=) | |
13 | g.32379877A>T | CA387757613 | BRCA2 | c.9081A>T (p.Leu3027Phe) c.*448A>T (n.*448A>T) c.8712A>T (p.Leu2904Phe) c.*643A>T (n.*643A>T) c.9030A>T (p.Leu3010Phe) c.1497A>T (p.Leu499Phe) n.1208A>T c.9089A>T (n.9089A>T) c.1959A>T c.38A>T c.8985A>T (p.Leu2995Phe) | dbSNP |
13 | g.32379880_32379882del | CA025964 | BRCA2 | c.9084_9086del (p.Ala3029del) c.*451_*453del (n.*451_*453del) c.8715_8717del (p.Ala2906del) c.*646_*648del (n.*646_*648del) c.9033_9035del (p.Ala3012del) c.1500_1502del (p.Ala501del) n.1211_1213del c.9092_9094del (n.9092_9094del) c.1962_1964del c.41_43del c.8988_8990del (p.Ala2997del) | ClinVar dbSNP |
13 | g.32379878G>A | CA387757616 | BRCA2 | c.9082G>A (p.Ala3028Thr) c.*449G>A (n.*449G>A) c.8713G>A (p.Ala2905Thr) c.*644G>A (n.*644G>A) c.9031G>A (p.Ala3011Thr) c.1498G>A (p.Ala500Thr) n.1209G>A c.9090G>A (n.9090G>A) c.1960G>A c.39G>A c.8986G>A (p.Ala2996Thr) | ClinVar dbSNP |
13 | g.32379878G>C | CA025963 | BRCA2 | c.9082G>C (p.Ala3028Pro) c.*449G>C (n.*449G>C) c.8713G>C (p.Ala2905Pro) c.*644G>C (n.*644G>C) c.9031G>C (p.Ala3011Pro) c.1498G>C (p.Ala500Pro) n.1209G>C c.9090G>C (n.9090G>C) c.1960G>C c.39G>C c.8986G>C (p.Ala2996Pro) | ClinVar dbSNP gnomAD v4 |
13 | g.32379878G= | CA2082838802 | BRCA2 | c.9082G= (p.Ala3028=) c.*449G= (n.*449G=) c.8713G= (p.Ala2905=) c.*644G= (n.*644G=) c.9031G= (p.Ala3011=) c.1498G= (p.Ala500=) n.1209G= c.9090G= (n.9090G=) c.1960G= c.39G= c.8986G= (p.Ala2996=) | |
13 | g.32379878G>T | CA387757619 | BRCA2 | c.9082G>T (p.Ala3028Ser) c.*449G>T (n.*449G>T) c.8713G>T (p.Ala2905Ser) c.*644G>T (n.*644G>T) c.9031G>T (p.Ala3011Ser) c.1498G>T (p.Ala500Ser) n.1209G>T c.9090G>T (n.9090G>T) c.1960G>T c.39G>T c.8986G>T (p.Ala2996Ser) | ClinVar dbSNP |
13 | g.32379879C>A | CA387757622 | BRCA2 | c.9083C>A (p.Ala3028Glu) c.*450C>A (n.*450C>A) c.8714C>A (p.Ala2905Glu) c.*645C>A (n.*645C>A) c.9032C>A (p.Ala3011Glu) c.1499C>A (p.Ala500Glu) n.1210C>A c.9091C>A (n.9091C>A) c.1961C>A c.40C>A c.8987C>A (p.Ala2996Glu) | dbSNP |
13 | g.32379879C>G | CA387757624 | BRCA2 | c.9083C>G (p.Ala3028Gly) c.*450C>G (n.*450C>G) c.8714C>G (p.Ala2905Gly) c.*645C>G (n.*645C>G) c.9032C>G (p.Ala3011Gly) c.1499C>G (p.Ala500Gly) n.1210C>G c.9091C>G (n.9091C>G) c.1961C>G c.40C>G c.8987C>G (p.Ala2996Gly) | dbSNP |
13 | g.32379879C>T | CA387757625 | BRCA2 | c.9083C>T (p.Ala3028Val) c.*450C>T (n.*450C>T) c.8714C>T (p.Ala2905Val) c.*645C>T (n.*645C>T) c.9032C>T (p.Ala3011Val) c.1499C>T (p.Ala500Val) n.1210C>T c.9091C>T (n.9091C>T) c.1961C>T c.40C>T c.8987C>T (p.Ala2996Val) | ClinVar dbSNP |
13 | g.32379880A>C | CA483439882 | BRCA2 | c.9084A>C (p.Ala3028=) c.*451A>C (n.*451A>C) c.8715A>C (p.Ala2905=) c.*646A>C (n.*646A>C) c.9033A>C (p.Ala3011=) c.1500A>C (p.Ala500=) n.1211A>C c.9092A>C (n.9092A>C) c.1962A>C c.41A>C c.8988A>C (p.Ala2996=) | |
13 | g.32379880A>G | CA483439880 | BRCA2 | c.9084A>G (p.Ala3028=) c.*451A>G (n.*451A>G) c.8715A>G (p.Ala2905=) c.*646A>G (n.*646A>G) c.9033A>G (p.Ala3011=) c.1500A>G (p.Ala500=) n.1211A>G c.9092A>G (n.9092A>G) c.1962A>G c.41A>G c.8988A>G (p.Ala2996=) | dbSNP |
13 | g.32379880A>T | CA483439881 | BRCA2 | c.9084A>T (p.Ala3028=) c.*451A>T (n.*451A>T) c.8715A>T (p.Ala2905=) c.*646A>T (n.*646A>T) c.9033A>T (p.Ala3011=) c.1500A>T (p.Ala500=) n.1211A>T c.9092A>T (n.9092A>T) c.1962A>T c.41A>T c.8988A>T (p.Ala2996=) | dbSNP |
13 | g.32379881G>A | CA025965 | BRCA2 | c.9085G>A (p.Ala3029Thr) c.*452G>A (n.*452G>A) c.8716G>A (p.Ala2906Thr) c.*647G>A (n.*647G>A) c.9034G>A (p.Ala3012Thr) c.1501G>A (p.Ala501Thr) n.1212G>A c.9093G>A (n.9093G>A) c.1963G>A c.42G>A c.8989G>A (p.Ala2997Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379881G>C | CA387757627 | BRCA2 | c.9085G>C (p.Ala3029Pro) c.*452G>C (n.*452G>C) c.8716G>C (p.Ala2906Pro) c.*647G>C (n.*647G>C) c.9034G>C (p.Ala3012Pro) c.1501G>C (p.Ala501Pro) n.1212G>C c.9093G>C (n.9093G>C) c.1963G>C c.42G>C c.8989G>C (p.Ala2997Pro) | dbSNP |
13 | g.32379881G= | CA2082838815 | BRCA2 | c.9085G= (p.Ala3029=) c.*452G= (n.*452G=) c.8716G= (p.Ala2906=) c.*647G= (n.*647G=) c.9034G= (p.Ala3012=) c.1501G= (p.Ala501=) n.1212G= c.9093G= (n.9093G=) c.1963G= c.42G= c.8989G= (p.Ala2997=) | |
13 | g.32379881G>T | CA387757629 | BRCA2 | c.9085G>T (p.Ala3029Ser) c.*452G>T (n.*452G>T) c.8716G>T (p.Ala2906Ser) c.*647G>T (n.*647G>T) c.9034G>T (p.Ala3012Ser) c.1501G>T (p.Ala501Ser) n.1212G>T c.9093G>T (n.9093G>T) c.1963G>T c.42G>T c.8989G>T (p.Ala2997Ser) | |
13 | g.32379882C>A | CA387757631 | BRCA2 | c.9086C>A (p.Ala3029Glu) c.*453C>A (n.*453C>A) c.8717C>A (p.Ala2906Glu) c.*648C>A (n.*648C>A) c.9035C>A (p.Ala3012Glu) c.1502C>A (p.Ala501Glu) n.1213C>A c.9094C>A (n.9094C>A) c.1964C>A c.43C>A c.8990C>A (p.Ala2997Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32379882C= | CA2082838840 | BRCA2 | c.9086C= (p.Ala3029=) c.*453C= (n.*453C=) c.8717C= (p.Ala2906=) c.*648C= (n.*648C=) c.9035C= (p.Ala3012=) c.1502C= (p.Ala501=) n.1213C= c.9094C= (n.9094C=) c.1964C= c.43C= c.8990C= (p.Ala2997=) | |
13 | g.32379882C>G | CA387757632 | BRCA2 | c.9086C>G (p.Ala3029Gly) c.*453C>G (n.*453C>G) c.8717C>G (p.Ala2906Gly) c.*648C>G (n.*648C>G) c.9035C>G (p.Ala3012Gly) c.1502C>G (p.Ala501Gly) n.1213C>G c.9094C>G (n.9094C>G) c.1964C>G c.43C>G c.8990C>G (p.Ala2997Gly) | dbSNP gnomAD v4 |
13 | g.32379882C>T | CA025966 | BRCA2 | c.9086C>T (p.Ala3029Val) c.*453C>T (n.*453C>T) c.8717C>T (p.Ala2906Val) c.*648C>T (n.*648C>T) c.9035C>T (p.Ala3012Val) c.1502C>T (p.Ala501Val) n.1213C>T c.9094C>T (n.9094C>T) c.1964C>T c.43C>T c.8990C>T (p.Ala2997Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32379883G>A | CA025967 | BRCA2 | c.9087G>A (p.Ala3029=) c.*454G>A (n.*454G>A) c.8718G>A (p.Ala2906=) c.*649G>A (n.*649G>A) c.9036G>A (p.Ala3012=) c.1503G>A (p.Ala501=) n.1214G>A c.9095G>A (n.9095G>A) c.1965G>A c.44G>A c.8991G>A (p.Ala2997=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379883G>C | CA483439883 | BRCA2 | c.9087G>C (p.Ala3029=) c.*454G>C (n.*454G>C) c.8718G>C (p.Ala2906=) c.*649G>C (n.*649G>C) c.9036G>C (p.Ala3012=) c.1503G>C (p.Ala501=) n.1214G>C c.9095G>C (n.9095G>C) c.1965G>C c.44G>C c.8991G>C (p.Ala2997=) | ClinVar dbSNP |
13 | g.32379883G= | CA2082838949 | BRCA2 | c.9087G= (p.Ala3029=) c.*454G= (n.*454G=) c.8718G= (p.Ala2906=) c.*649G= (n.*649G=) c.9036G= (p.Ala3012=) c.1503G= (p.Ala501=) n.1214G= c.9095G= (n.9095G=) c.1965G= c.44G= c.8991G= (p.Ala2997=) | |
13 | g.32379883G>T | CA483439884 | BRCA2 | c.9087G>T (p.Ala3029=) c.*454G>T (n.*454G>T) c.8718G>T (p.Ala2906=) c.*649G>T (n.*649G>T) c.9036G>T (p.Ala3012=) c.1503G>T (p.Ala501=) n.1214G>T c.9095G>T (n.9095G>T) c.1965G>T c.44G>T c.8991G>T (p.Ala2997=) | ClinVar dbSNP gnomAD v4 |
13 | g.32379884A>C | CA387757636 | BRCA2 | c.9088A>C (p.Thr3030Pro) c.*455A>C (n.*455A>C) c.8719A>C (p.Thr2907Pro) c.*650A>C (n.*650A>C) c.9037A>C (p.Thr3013Pro) c.1504A>C (p.Thr502Pro) n.1215A>C c.9096A>C (n.9096A>C) c.1966A>C c.45A>C c.8992A>C (p.Thr2998Pro) | dbSNP |
13 | g.32379884A>G | CA387757637 | BRCA2 | c.9088A>G (p.Thr3030Ala) c.*455A>G (n.*455A>G) c.8719A>G (p.Thr2907Ala) c.*650A>G (n.*650A>G) c.9037A>G (p.Thr3013Ala) c.1504A>G (p.Thr502Ala) n.1215A>G c.9096A>G (n.9096A>G) c.1966A>G c.45A>G c.8992A>G (p.Thr2998Ala) | ClinVar dbSNP |
13 | g.32379884A>T | CA387757638 | BRCA2 | c.9088A>T (p.Thr3030Ser) c.*455A>T (n.*455A>T) c.8719A>T (p.Thr2907Ser) c.*650A>T (n.*650A>T) c.9037A>T (p.Thr3013Ser) c.1504A>T (p.Thr502Ser) n.1215A>T c.9096A>T (n.9096A>T) c.1966A>T c.45A>T c.8992A>T (p.Thr2998Ser) | dbSNP |
13 | g.32379884dup | CA919243129 | BRCA2 | c.9088dup (p.Thr3030AsnfsTer14) c.*455dup (n.*455dup) c.8719dup (p.Thr2907AsnfsTer14) c.*650dup (n.*650dup) c.9037dup (p.Thr3013AsnfsTer14) c.1504dup (p.Thr502AsnfsTer14) n.1215dup c.9096dup (n.9096dup) c.1966dup c.45dup c.8992dup (p.Thr2998AsnfsTer14) | dbSNP |
13 | g.32379884_32379885delinsAC | CA2082838966 | BRCA2 | c.9088_9089delinsAC (p.Thr3030=) c.*455_*456delinsAC (n.*455_*456delinsAC) c.8719_8720delinsAC (p.Thr2907=) c.*650_*651delinsAC (n.*650_*651delinsAC) c.9037_9038delinsAC (p.Thr3013=) c.1504_1505delinsAC (p.Thr502=) n.1215_1216delinsAC c.9096_9097delinsAC (n.9096_9097delinsAC) c.1966_1967delinsAC c.45_46delinsAC c.8992_8993delinsAC (p.Thr2998=) | |
13 | g.32379888_32379907del | CA2580087496 | BRCA2 | c.9092_9111del (p.Lys3031ThrfsTer6) c.*459_*478del (n.*459_*478del) c.8723_8742del (p.Lys2908ThrfsTer6) c.*654_*673del (n.*654_*673del) c.9041_9060del (p.Lys3014ThrfsTer6) c.1508_1527del (p.Lys503ThrfsTer6) n.1219_1238del c.9100_9119del (n.9100_9119del) c.1970_1989del c.49_68del c.8996_9015del (p.Lys2999ThrfsTer6) | ClinVar |
13 | g.32379885del | CA10589545 | BRCA2 | c.9089del (p.Thr3030LysfsTer?) c.*456del (n.*456del) c.8720del (p.Thr2907LysfsTer?) c.*651del (n.*651del) c.9038del (p.Thr3013LysfsTer?) c.1505del (p.Thr502LysfsTer?) n.1216del c.9097del (n.9097del) c.1967del c.46del c.8993del (p.Thr2998LysfsTer?) | ClinVar dbSNP |
13 | g.32379885C>A | CA387757639 | BRCA2 | c.9089C>A (p.Thr3030Lys) c.*456C>A (n.*456C>A) c.8720C>A (p.Thr2907Lys) c.*651C>A (n.*651C>A) c.9038C>A (p.Thr3013Lys) c.1505C>A (p.Thr502Lys) n.1216C>A c.9097C>A (n.9097C>A) c.1967C>A c.46C>A c.8993C>A (p.Thr2998Lys) | |
13 | g.32379885C= | CA2082838989 | BRCA2 | c.9089C= (p.Thr3030=) c.*456C= (n.*456C=) c.8720C= (p.Thr2907=) c.*651C= (n.*651C=) c.9038C= (p.Thr3013=) c.1505C= (p.Thr502=) n.1216C= c.9097C= (n.9097C=) c.1967C= c.46C= c.8993C= (p.Thr2998=) | |
13 | g.32379885C>G | CA387757641 | BRCA2 | c.9089C>G (p.Thr3030Arg) c.*456C>G (n.*456C>G) c.8720C>G (p.Thr2907Arg) c.*651C>G (n.*651C>G) c.9038C>G (p.Thr3013Arg) c.1505C>G (p.Thr502Arg) n.1216C>G c.9097C>G (n.9097C>G) c.1967C>G c.46C>G c.8993C>G (p.Thr2998Arg) | ClinVar dbSNP |
13 | g.32379885C>T | CA025968 | BRCA2 | c.9089C>T (p.Thr3030Ile) c.*456C>T (n.*456C>T) c.8720C>T (p.Thr2907Ile) c.*651C>T (n.*651C>T) c.9038C>T (p.Thr3013Ile) c.1505C>T (p.Thr502Ile) n.1216C>T c.9097C>T (n.9097C>T) c.1967C>T c.46C>T c.8993C>T (p.Thr2998Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32379885_32379889delinsCAAAA | CA2082838976 | BRCA2 | c.9089_9093delinsCAAAA (p.Thr3030=) c.*456_*460delinsCAAAA (n.*456_*460delinsCAAAA) c.8720_8724delinsCAAAA (p.Thr2907=) c.*651_*655delinsCAAAA (n.*651_*655delinsCAAAA) c.9038_9042delinsCAAAA (p.Thr3013=) c.1505_1509delinsCAAAA (p.Thr502=) n.1216_1220delinsCAAAA c.9097_9101delinsCAAAA (n.9097_9101delinsCAAAA) c.1967_1971delinsCAAAA c.46_50delinsCAAAA c.8993_8997delinsCAAAA (p.Thr2998=) | |
13 | g.32379886A= | CA2082839027 | BRCA2 | c.9090A= (p.Thr3030=) c.*457A= (n.*457A=) c.8721A= (p.Thr2907=) c.*652A= (n.*652A=) c.9039A= (p.Thr3013=) c.1506A= (p.Thr502=) n.1217A= c.9098A= (n.9098A=) c.1968A= c.47A= c.8994A= (p.Thr2998=) | |
13 | g.32379886A>C | CA10579808 | BRCA2 | c.9090A>C (p.Thr3030=) c.*457A>C (n.*457A>C) c.8721A>C (p.Thr2907=) c.*652A>C (n.*652A>C) c.9039A>C (p.Thr3013=) c.1506A>C (p.Thr502=) n.1217A>C c.9098A>C (n.9098A>C) c.1968A>C c.47A>C c.8994A>C (p.Thr2998=) | ClinVar dbSNP gnomAD v4 |
13 | g.32379886A>G | CA483439886 | BRCA2 | c.9090A>G (p.Thr3030=) c.*457A>G (n.*457A>G) c.8721A>G (p.Thr2907=) c.*652A>G (n.*652A>G) c.9039A>G (p.Thr3013=) c.1506A>G (p.Thr502=) n.1217A>G c.9098A>G (n.9098A>G) c.1968A>G c.47A>G c.8994A>G (p.Thr2998=) | ClinVar dbSNP |
13 | g.32379886A>T | CA483439885 | BRCA2 | c.9090A>T (p.Thr3030=) c.*457A>T (n.*457A>T) c.8721A>T (p.Thr2907=) c.*652A>T (n.*652A>T) c.9039A>T (p.Thr3013=) c.1506A>T (p.Thr502=) n.1217A>T c.9098A>T (n.9098A>T) c.1968A>T c.47A>T c.8994A>T (p.Thr2998=) | dbSNP |
13 | g.32379893dup | CA025970 | BRCA2 | c.9097dup (p.Thr3033AsnfsTer11) c.*464dup (n.*464dup) c.8728dup (p.Thr2910AsnfsTer11) c.*659dup (n.*659dup) c.9046dup (p.Thr3016AsnfsTer11) c.1513dup (p.Thr505AsnfsTer11) n.1224dup c.9105dup (n.9105dup) c.1975dup c.54dup c.9001dup (p.Thr3001AsnfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
13 | g.32379893del | CA025971 | BRCA2 | c.9097del (p.Thr3033LeufsTer29) c.*464del (n.*464del) c.8728del (p.Thr2910LeufsTer29) c.*659del (n.*659del) c.9046del (p.Thr3016LeufsTer29) c.1513del (p.Thr505LeufsTer29) n.1224del c.9105del (n.9105del) c.1975del c.54del c.9001del (p.Thr3001LeufsTer29) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
13 | g.32379892_32379893del | CA913188549 | BRCA2 | c.9096_9097del (p.Lys3032AsnfsTer11) c.*463_*464del (n.*463_*464del) c.8727_8728del (p.Lys2909AsnfsTer11) c.*658_*659del (n.*658_*659del) c.9045_9046del (p.Lys3015AsnfsTer11) c.1512_1513del (p.Lys504AsnfsTer11) n.1223_1224del c.9104_9105del (n.9104_9105del) c.1974_1975del c.53_54del c.9000_9001del (p.Lys3000AsnfsTer11) | ClinVar dbSNP |
13 | g.32379890_32379893del | CA025969 | BRCA2 | c.9094_9097del (p.Lys3032LeufsTer29) c.*461_*464del (n.*461_*464del) c.8725_8728del (p.Lys2909LeufsTer29) c.*656_*659del (n.*656_*659del) c.9043_9046del (p.Lys3015LeufsTer29) c.1510_1513del (p.Lys504LeufsTer29) n.1221_1224del c.9102_9105del (n.9102_9105del) c.1972_1975del c.51_54del c.8998_9001del (p.Lys3000LeufsTer29) | ClinVar dbSNP |
13 | g.32379887A>C | CA387757648 | BRCA2 | c.9091A>C (p.Lys3031Gln) c.*458A>C (n.*458A>C) c.8722A>C (p.Lys2908Gln) c.*653A>C (n.*653A>C) c.9040A>C (p.Lys3014Gln) c.1507A>C (p.Lys503Gln) n.1218A>C c.9099A>C (n.9099A>C) c.1969A>C c.48A>C c.8995A>C (p.Lys2999Gln) | |
13 | g.32379887A>G | CA387757650 | BRCA2 | c.9091A>G (p.Lys3031Glu) c.*458A>G (n.*458A>G) c.8722A>G (p.Lys2908Glu) c.*653A>G (n.*653A>G) c.9040A>G (p.Lys3014Glu) c.1507A>G (p.Lys503Glu) n.1218A>G c.9099A>G (n.9099A>G) c.1969A>G c.48A>G c.8995A>G (p.Lys2999Glu) | |
13 | g.32379887A>T | CA387757652 | BRCA2 | c.9091A>T (p.Lys3031Ter) c.*458A>T (n.*458A>T) c.8722A>T (p.Lys2908Ter) c.*653A>T (n.*653A>T) c.9040A>T (p.Lys3014Ter) c.1507A>T (p.Lys503Ter) n.1218A>T c.9099A>T (n.9099A>T) c.1969A>T c.48A>T c.8995A>T (p.Lys2999Ter) | dbSNP |
13 | g.32379888A>C | CA387757653 | BRCA2 | c.9092A>C (p.Lys3031Thr) c.*459A>C (n.*459A>C) c.8723A>C (p.Lys2908Thr) c.*654A>C (n.*654A>C) c.9041A>C (p.Lys3014Thr) c.1508A>C (p.Lys503Thr) n.1219A>C c.9100A>C (n.9100A>C) c.1970A>C c.49A>C c.8996A>C (p.Lys2999Thr) | |
13 | g.32379888A>G | CA387757654 | BRCA2 | c.9092A>G (p.Lys3031Arg) c.*459A>G (n.*459A>G) c.8723A>G (p.Lys2908Arg) c.*654A>G (n.*654A>G) c.9041A>G (p.Lys3014Arg) c.1508A>G (p.Lys503Arg) n.1219A>G c.9100A>G (n.9100A>G) c.1970A>G c.49A>G c.8996A>G (p.Lys2999Arg) | |
13 | g.32379888A>T | CA387757655 | BRCA2 | c.9092A>T (p.Lys3031Ile) c.*459A>T (n.*459A>T) c.8723A>T (p.Lys2908Ile) c.*654A>T (n.*654A>T) c.9041A>T (p.Lys3014Ile) c.1508A>T (p.Lys503Ile) n.1219A>T c.9100A>T (n.9100A>T) c.1970A>T c.49A>T c.8996A>T (p.Lys2999Ile) | |
13 | g.32379888_32379890delinsAAA | CA2082839045 | BRCA2 | c.9092_9094delinsAAA (p.Lys3031=) c.*459_*461delinsAAA (n.*459_*461delinsAAA) c.8723_8725delinsAAA (p.Lys2908=) c.*654_*656delinsAAA (n.*654_*656delinsAAA) c.9041_9043delinsAAA (p.Lys3014=) c.1508_1510delinsAAA (p.Lys503=) n.1219_1221delinsAAA c.9100_9102delinsAAA (n.9100_9102delinsAAA) c.1970_1972delinsAAA c.49_51delinsAAA c.8996_8998delinsAAA (p.Lys2999=) | |
13 | g.32379889A= | CA2082839054 | BRCA2 | c.9093A= (p.Lys3031=) c.*460A= (n.*460A=) c.8724A= (p.Lys2908=) c.*655A= (n.*655A=) c.9042A= (p.Lys3014=) c.1509A= (p.Lys503=) n.1220A= c.9101A= (n.9101A=) c.1971A= c.50A= c.8997A= (p.Lys2999=) | |
13 | g.32379889A>C | CA387757659 | BRCA2 | c.9093A>C (p.Lys3031Asn) c.*460A>C (n.*460A>C) c.8724A>C (p.Lys2908Asn) c.*655A>C (n.*655A>C) c.9042A>C (p.Lys3014Asn) c.1509A>C (p.Lys503Asn) n.1220A>C c.9101A>C (n.9101A>C) c.1971A>C c.50A>C c.8997A>C (p.Lys2999Asn) | dbSNP |
13 | g.32379889A>G | CA483439887 | BRCA2 | c.9093A>G (p.Lys3031=) c.*460A>G (n.*460A>G) c.8724A>G (p.Lys2908=) c.*655A>G (n.*655A>G) c.9042A>G (p.Lys3014=) c.1509A>G (p.Lys503=) n.1220A>G c.9101A>G (n.9101A>G) c.1971A>G c.50A>G c.8997A>G (p.Lys2999=) | ClinVar dbSNP |
13 | g.32379889A>T | CA387757657 | BRCA2 | c.9093A>T (p.Lys3031Asn) c.*460A>T (n.*460A>T) c.8724A>T (p.Lys2908Asn) c.*655A>T (n.*655A>T) c.9042A>T (p.Lys3014Asn) c.1509A>T (p.Lys503Asn) n.1220A>T c.9101A>T (n.9101A>T) c.1971A>T c.50A>T c.8997A>T (p.Lys2999Asn) | dbSNP |
13 | g.32379889_32379890delinsG | CA10579809 | BRCA2 | c.9093_9094delinsG (p.Thr3033LeufsTer29) c.*460_*461delinsG (n.*460_*461delinsG) c.8724_8725delinsG (p.Thr2910LeufsTer29) c.*655_*656delinsG (n.*655_*656delinsG) c.9042_9043delinsG (p.Thr3016LeufsTer29) c.1509_1510delinsG (p.Thr505LeufsTer29) n.1220_1221delinsG c.9101_9102delinsG (n.9101_9102delinsG) c.1971_1972delinsG c.50_51delinsG c.8997_8998delinsG (p.Thr3001LeufsTer29) | ClinVar dbSNP |
13 | g.32379890A= | CA2082839068 | BRCA2 | c.9094A= (p.Lys3032=) c.*461A= (n.*461A=) c.8725A= (p.Lys2909=) c.*656A= (n.*656A=) c.9043A= (p.Lys3015=) c.1510A= (p.Lys504=) n.1221A= c.9102A= (n.9102A=) c.1972A= c.51A= c.8998A= (p.Lys3000=) | |
13 | g.32379890A>C | CA387757660 | BRCA2 | c.9094A>C (p.Lys3032Gln) c.*461A>C (n.*461A>C) c.8725A>C (p.Lys2909Gln) c.*656A>C (n.*656A>C) c.9043A>C (p.Lys3015Gln) c.1510A>C (p.Lys504Gln) n.1221A>C c.9102A>C (n.9102A>C) c.1972A>C c.51A>C c.8998A>C (p.Lys3000Gln) | ClinVar dbSNP |
13 | g.32379890A>G | CA387757662 | BRCA2 | c.9094A>G (p.Lys3032Glu) c.*461A>G (n.*461A>G) c.8725A>G (p.Lys2909Glu) c.*656A>G (n.*656A>G) c.9043A>G (p.Lys3015Glu) c.1510A>G (p.Lys504Glu) n.1221A>G c.9102A>G (n.9102A>G) c.1972A>G c.51A>G c.8998A>G (p.Lys3000Glu) | ClinVar dbSNP |
13 | g.32379890A>T | CA387757664 | BRCA2 | c.9094A>T (p.Lys3032Ter) c.*461A>T (n.*461A>T) c.8725A>T (p.Lys2909Ter) c.*656A>T (n.*656A>T) c.9043A>T (p.Lys3015Ter) c.1510A>T (p.Lys504Ter) n.1221A>T c.9102A>T (n.9102A>T) c.1972A>T c.51A>T c.8998A>T (p.Lys3000Ter) | |
13 | g.32379891A= | CA2082839073 | BRCA2 | c.9095A= (p.Lys3032=) c.*462A= (n.*462A=) c.8726A= (p.Lys2909=) c.*657A= (n.*657A=) c.9044A= (p.Lys3015=) c.1511A= (p.Lys504=) n.1222A= c.9103A= (n.9103A=) c.1973A= c.52A= c.8999A= (p.Lys3000=) | |
13 | g.32379891A>C | CA387757666 | BRCA2 | c.9095A>C (p.Lys3032Thr) c.*462A>C (n.*462A>C) c.8726A>C (p.Lys2909Thr) c.*657A>C (n.*657A>C) c.9044A>C (p.Lys3015Thr) c.1511A>C (p.Lys504Thr) n.1222A>C c.9103A>C (n.9103A>C) c.1973A>C c.52A>C c.8999A>C (p.Lys3000Thr) | |
13 | g.32379891A>G | CA387757668 | BRCA2 | c.9095A>G (p.Lys3032Arg) c.*462A>G (n.*462A>G) c.8726A>G (p.Lys2909Arg) c.*657A>G (n.*657A>G) c.9044A>G (p.Lys3015Arg) c.1511A>G (p.Lys504Arg) n.1222A>G c.9103A>G (n.9103A>G) c.1973A>G c.52A>G c.8999A>G (p.Lys3000Arg) | dbSNP |
13 | g.32379891A>T | CA387757669 | BRCA2 | c.9095A>T (p.Lys3032Ile) c.*462A>T (n.*462A>T) c.8726A>T (p.Lys2909Ile) c.*657A>T (n.*657A>T) c.9044A>T (p.Lys3015Ile) c.1511A>T (p.Lys504Ile) n.1222A>T c.9103A>T (n.9103A>T) c.1973A>T c.52A>T c.8999A>T (p.Lys3000Ile) | |
13 | g.32379891_32379892insT | CA2695217961 | BRCA2 | c.9095_9096insT (p.Lys3032AsnfsTer12) c.*462_*463insT (n.*462_*463insT) c.8726_8727insT (p.Lys2909AsnfsTer12) c.*657_*658insT (n.*657_*658insT) c.9044_9045insT (p.Lys3015AsnfsTer12) c.1511_1512insT (p.Lys504AsnfsTer12) n.1222_1223insT c.9103_9104insT (n.9103_9104insT) c.1973_1974insT c.52_53insT c.8999_9000insT (p.Lys3000AsnfsTer12) | |
13 | g.32379892A= | CA2082839082 | BRCA2 | c.9096A= (p.Lys3032=) c.*463A= (n.*463A=) c.8727A= (p.Lys2909=) c.*658A= (n.*658A=) c.9045A= (p.Lys3015=) c.1512A= (p.Lys504=) n.1223A= c.9104A= (n.9104A=) c.1974A= c.53A= c.9000A= (p.Lys3000=) | |
13 | g.32379892A>C | CA348978 | BRCA2 | c.9096A>C (p.Lys3032Asn) c.*463A>C (n.*463A>C) c.8727A>C (p.Lys2909Asn) c.*658A>C (n.*658A>C) c.9045A>C (p.Lys3015Asn) c.1512A>C (p.Lys504Asn) n.1223A>C c.9104A>C (n.9104A>C) c.1974A>C c.53A>C c.9000A>C (p.Lys3000Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379892A>G | CA483439888 | BRCA2 | c.9096A>G (p.Lys3032=) c.*463A>G (n.*463A>G) c.8727A>G (p.Lys2909=) c.*658A>G (n.*658A>G) c.9045A>G (p.Lys3015=) c.1512A>G (p.Lys504=) n.1223A>G c.9104A>G (n.9104A>G) c.1974A>G c.53A>G c.9000A>G (p.Lys3000=) | |
13 | g.32379892A>T | CA387757672 | BRCA2 | c.9096A>T (p.Lys3032Asn) c.*463A>T (n.*463A>T) c.8727A>T (p.Lys2909Asn) c.*658A>T (n.*658A>T) c.9045A>T (p.Lys3015Asn) c.1512A>T (p.Lys504Asn) n.1223A>T c.9104A>T (n.9104A>T) c.1974A>T c.53A>T c.9000A>T (p.Lys3000Asn) | ClinVar dbSNP |
13 | g.32379892_32379893insT | CA658823629 | BRCA2 | c.9096_9097insT (p.Thr3033TyrfsTer11) c.*463_*464insT (n.*463_*464insT) c.8727_8728insT (p.Thr2910TyrfsTer11) c.*658_*659insT (n.*658_*659insT) c.9045_9046insT (p.Thr3016TyrfsTer11) c.1512_1513insT (p.Thr505TyrfsTer11) n.1223_1224insT c.9104_9105insT (n.9104_9105insT) c.1974_1975insT c.53_54insT c.9000_9001insT (p.Thr3001TyrfsTer11) | ClinVar dbSNP |
13 | g.32379893A= | CA2082839102 | BRCA2 | c.9097A= (p.Thr3033=) c.*464A= (n.*464A=) c.8728A= (p.Thr2910=) c.*659A= (n.*659A=) c.9046A= (p.Thr3016=) c.1513A= (p.Thr505=) n.1224A= c.9105A= (n.9105A=) c.1975A= c.54A= c.9001A= (p.Thr3001=) | |
13 | g.32379893A>C | CA6941330 | BRCA2 | c.9097A>C (p.Thr3033Pro) c.*464A>C (n.*464A>C) c.8728A>C (p.Thr2910Pro) c.*659A>C (n.*659A>C) c.9046A>C (p.Thr3016Pro) c.1513A>C (p.Thr505Pro) n.1224A>C c.9105A>C (n.9105A>C) c.1975A>C c.54A>C c.9001A>C (p.Thr3001Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.32379893A>G | CA387757674 | BRCA2 | c.9097A>G (p.Thr3033Ala) c.*464A>G (n.*464A>G) c.8728A>G (p.Thr2910Ala) c.*659A>G (n.*659A>G) c.9046A>G (p.Thr3016Ala) c.1513A>G (p.Thr505Ala) n.1224A>G c.9105A>G (n.9105A>G) c.1975A>G c.54A>G c.9001A>G (p.Thr3001Ala) | ClinVar dbSNP gnomAD v4 |
13 | g.32379893A>T | CA387757676 | BRCA2 | c.9097A>T (p.Thr3033Ser) c.*464A>T (n.*464A>T) c.8728A>T (p.Thr2910Ser) c.*659A>T (n.*659A>T) c.9046A>T (p.Thr3016Ser) c.1513A>T (p.Thr505Ser) n.1224A>T c.9105A>T (n.9105A>T) c.1975A>T c.54A>T c.9001A>T (p.Thr3001Ser) | ClinVar dbSNP |
13 | g.32379893_32379895delinsACT | CA2082839109 | BRCA2 | c.9097_9099delinsACT (p.Thr3033=) c.*464_*466delinsACT (n.*464_*466delinsACT) c.8728_8730delinsACT (p.Thr2910=) c.*659_*661delinsACT (n.*659_*661delinsACT) c.9046_9048delinsACT (p.Thr3016=) c.1513_1515delinsACT (p.Thr505=) n.1224_1226delinsACT c.9105_9107delinsACT (n.9105_9107delinsACT) c.1975_1977delinsACT c.54_56delinsACT c.9001_9003delinsACT (p.Thr3001=) | |
13 | g.32379893_32379894insT | CA16614239 | BRCA2 | c.9097_9098insT (p.Thr3033IlefsTer11) c.*464_*465insT (n.*464_*465insT) c.8728_8729insT (p.Thr2910IlefsTer11) c.*659_*660insT (n.*659_*660insT) c.9046_9047insT (p.Thr3016IlefsTer11) c.1513_1514insT (p.Thr505IlefsTer11) n.1224_1225insT c.9105_9106insT (n.9105_9106insT) c.1975_1976insT c.54_55insT c.9001_9002insT (p.Thr3001IlefsTer11) | ClinVar dbSNP gnomAD v2 |
13 | g.32379894C>A | CA387757680 | BRCA2 | c.9098C>A (p.Thr3033Asn) c.*465C>A (n.*465C>A) c.8729C>A (p.Thr2910Asn) c.*660C>A (n.*660C>A) c.9047C>A (p.Thr3016Asn) c.1514C>A (p.Thr505Asn) n.1225C>A c.9106C>A (n.9106C>A) c.1976C>A c.55C>A c.9002C>A (p.Thr3001Asn) | dbSNP |
13 | g.32379894C= | CA2082839134 | BRCA2 | c.9098C= (p.Thr3033=) c.*465C= (n.*465C=) c.8729C= (p.Thr2910=) c.*660C= (n.*660C=) c.9047C= (p.Thr3016=) c.1514C= (p.Thr505=) n.1225C= c.9106C= (n.9106C=) c.1976C= c.55C= c.9002C= (p.Thr3001=) | |
13 | g.32379894C>G | CA387757682 | BRCA2 | c.9098C>G (p.Thr3033Ser) c.*465C>G (n.*465C>G) c.8729C>G (p.Thr2910Ser) c.*660C>G (n.*660C>G) c.9047C>G (p.Thr3016Ser) c.1514C>G (p.Thr505Ser) n.1225C>G c.9106C>G (n.9106C>G) c.1976C>G c.55C>G c.9002C>G (p.Thr3001Ser) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32379894C>T | CA025974 | BRCA2 | c.9098C>T (p.Thr3033Ile) c.*465C>T (n.*465C>T) c.8729C>T (p.Thr2910Ile) c.*660C>T (n.*660C>T) c.9047C>T (p.Thr3016Ile) c.1514C>T (p.Thr505Ile) n.1225C>T c.9106C>T (n.9106C>T) c.1976C>T c.55C>T c.9002C>T (p.Thr3001Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379894dup | CA025973 | BRCA2 | c.9098dup (p.Gln3034SerfsTer10) c.*465dup (n.*465dup) c.8729dup (p.Gln2911SerfsTer10) c.*660dup (n.*660dup) c.9047dup (p.Gln3017SerfsTer10) c.1514dup (p.Gln506SerfsTer10) n.1225dup c.9106dup (n.9106dup) c.1976dup c.55dup c.9002dup (p.Gln3002SerfsTer10) | ClinVar dbSNP |
13 | g.32379895_32379896del | CA025975 | BRCA2 | c.9099_9100del (p.Gln3034ValfsTer9) c.*466_*467del (n.*466_*467del) c.8730_8731del (p.Gln2911ValfsTer9) c.*661_*662del (n.*661_*662del) c.9048_9049del (p.Gln3017ValfsTer9) c.1515_1516del (p.Gln506ValfsTer9) n.1226_1227del c.9107_9108del (n.9107_9108del) c.1977_1978del c.56_57del c.9003_9004del (p.Gln3002ValfsTer9) | ClinVar dbSNP |
13 | g.32379894_32379895insA | CA025972 | BRCA2 | c.9098_9099insA (p.Gln3034SerfsTer10) c.*465_*466insA (n.*465_*466insA) c.8729_8730insA (p.Gln2911SerfsTer10) c.*660_*661insA (n.*660_*661insA) c.9047_9048insA (p.Gln3017SerfsTer10) c.1514_1515insA (p.Gln506SerfsTer10) n.1225_1226insA c.9106_9107insA (n.9106_9107insA) c.1976_1977insA c.55_56insA c.9002_9003insA (p.Gln3002SerfsTer10) | ClinVar dbSNP |
13 | g.32379895T>A | CA483439889 | BRCA2 | c.9099T>A (p.Thr3033=) c.*466T>A (n.*466T>A) c.8730T>A (p.Thr2910=) c.*661T>A (n.*661T>A) c.9048T>A (p.Thr3016=) c.1515T>A (p.Thr505=) n.1226T>A c.9107T>A (n.9107T>A) c.1977T>A c.56T>A c.9003T>A (p.Thr3001=) | dbSNP |
13 | g.32379895T>C | CA10579810 | BRCA2 | c.9099T>C (p.Thr3033=) c.*466T>C (n.*466T>C) c.8730T>C (p.Thr2910=) c.*661T>C (n.*661T>C) c.9048T>C (p.Thr3016=) c.1515T>C (p.Thr505=) n.1226T>C c.9107T>C (n.9107T>C) c.1977T>C c.56T>C c.9003T>C (p.Thr3001=) | ClinVar dbSNP gnomAD v2 |
13 | g.32379895T>G | CA483439890 | BRCA2 | c.9099T>G (p.Thr3033=) c.*466T>G (n.*466T>G) c.8730T>G (p.Thr2910=) c.*661T>G (n.*661T>G) c.9048T>G (p.Thr3016=) c.1515T>G (p.Thr505=) n.1226T>G c.9107T>G (n.9107T>G) c.1977T>G c.56T>G c.9003T>G (p.Thr3001=) | |
13 | g.32379895T= | CA2082839140 | BRCA2 | c.9099T= (p.Thr3033=) c.*466T= (n.*466T=) c.8730T= (p.Thr2910=) c.*661T= (n.*661T=) c.9048T= (p.Thr3016=) c.1515T= (p.Thr505=) n.1226T= c.9107T= (n.9107T=) c.1977T= c.56T= c.9003T= (p.Thr3001=) | |
13 | g.32379896C>A | CA387757688 | BRCA2 | c.9100C>A (p.Gln3034Lys) c.*467C>A (n.*467C>A) c.8731C>A (p.Gln2911Lys) c.*662C>A (n.*662C>A) c.9049C>A (p.Gln3017Lys) c.1516C>A (p.Gln506Lys) n.1227C>A c.9108C>A (n.9108C>A) c.1978C>A c.57C>A c.9004C>A (p.Gln3002Lys) | dbSNP |
13 | g.32379896C= | CA2082839162 | BRCA2 | c.9100C= (p.Gln3034=) c.*467C= (n.*467C=) c.8731C= (p.Gln2911=) c.*662C= (n.*662C=) c.9049C= (p.Gln3017=) c.1516C= (p.Gln506=) n.1227C= c.9108C= (n.9108C=) c.1978C= c.57C= c.9004C= (p.Gln3002=) | |
13 | g.32379896C>G | CA387757689 | BRCA2 | c.9100C>G (p.Gln3034Glu) c.*467C>G (n.*467C>G) c.8731C>G (p.Gln2911Glu) c.*662C>G (n.*662C>G) c.9049C>G (p.Gln3017Glu) c.1516C>G (p.Gln506Glu) n.1227C>G c.9108C>G (n.9108C>G) c.1978C>G c.57C>G c.9004C>G (p.Gln3002Glu) | dbSNP |
13 | g.32379896C>T | CA025978 | BRCA2 | c.9100C>T (p.Gln3034Ter) c.*467C>T (n.*467C>T) c.8731C>T (p.Gln2911Ter) c.*662C>T (n.*662C>T) c.9049C>T (p.Gln3017Ter) c.1516C>T (p.Gln506Ter) n.1227C>T c.9108C>T (n.9108C>T) c.1978C>T c.57C>T c.9004C>T (p.Gln3002Ter) | ClinVar dbSNP |
13 | g.32379896dup | CA025977 | BRCA2 | c.9100dup (p.Gln3034ProfsTer10) c.*467dup (n.*467dup) c.8731dup (p.Gln2911ProfsTer10) c.*662dup (n.*662dup) c.9049dup (p.Gln3017ProfsTer10) c.1516dup (p.Gln506ProfsTer10) n.1227dup c.9108dup (n.9108dup) c.1978dup c.57dup c.9004dup (p.Gln3002ProfsTer10) | ClinVar dbSNP |
13 | g.32379897A= | CA2082839174 | BRCA2 | c.9101A= (p.Gln3034=) c.*468A= (n.*468A=) c.8732A= (p.Gln2911=) c.*663A= (n.*663A=) c.9050A= (p.Gln3017=) c.1517A= (p.Gln506=) n.1228A= c.9109A= (n.9109A=) c.1979A= c.58A= c.9005A= (p.Gln3002=) | |
13 | g.32379897A>C | CA387757693 | BRCA2 | c.9101A>C (p.Gln3034Pro) c.*468A>C (n.*468A>C) c.8732A>C (p.Gln2911Pro) c.*663A>C (n.*663A>C) c.9050A>C (p.Gln3017Pro) c.1517A>C (p.Gln506Pro) n.1228A>C c.9109A>C (n.9109A>C) c.1979A>C c.58A>C c.9005A>C (p.Gln3002Pro) | |
13 | g.32379897A>G | CA025979 | BRCA2 | c.9101A>G (p.Gln3034Arg) c.*468A>G (n.*468A>G) c.8732A>G (p.Gln2911Arg) c.*663A>G (n.*663A>G) c.9050A>G (p.Gln3017Arg) c.1517A>G (p.Gln506Arg) n.1228A>G c.9109A>G (n.9109A>G) c.1979A>G c.58A>G c.9005A>G (p.Gln3002Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379897A>T | CA387757695 | BRCA2 | c.9101A>T (p.Gln3034Leu) c.*468A>T (n.*468A>T) c.8732A>T (p.Gln2911Leu) c.*663A>T (n.*663A>T) c.9050A>T (p.Gln3017Leu) c.1517A>T (p.Gln506Leu) n.1228A>T c.9109A>T (n.9109A>T) c.1979A>T c.58A>T c.9005A>T (p.Gln3002Leu) | dbSNP |
13 | g.32379898G>A | CA483439891 | BRCA2 | c.9102G>A (p.Gln3034=) c.*469G>A (n.*469G>A) c.8733G>A (p.Gln2911=) c.*664G>A (n.*664G>A) c.9051G>A (p.Gln3017=) c.1518G>A (p.Gln506=) n.1229G>A c.9110G>A (n.9110G>A) c.1980G>A c.59G>A c.9006G>A (p.Gln3002=) | ClinVar dbSNP |
13 | g.32379898G>C | CA387757698 | BRCA2 | c.9102G>C (p.Gln3034His) c.*469G>C (n.*469G>C) c.8733G>C (p.Gln2911His) c.*664G>C (n.*664G>C) c.9051G>C (p.Gln3017His) c.1518G>C (p.Gln506His) n.1229G>C c.9110G>C (n.9110G>C) c.1980G>C c.59G>C c.9006G>C (p.Gln3002His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379898G= | CA2082839185 | BRCA2 | c.9102G= (p.Gln3034=) c.*469G= (n.*469G=) c.8733G= (p.Gln2911=) c.*664G= (n.*664G=) c.9051G= (p.Gln3017=) c.1518G= (p.Gln506=) n.1229G= c.9110G= (n.9110G=) c.1980G= c.59G= c.9006G= (p.Gln3002=) | |
13 | g.32379898G>T | CA387757699 | BRCA2 | c.9102G>T (p.Gln3034His) c.*469G>T (n.*469G>T) c.8733G>T (p.Gln2911His) c.*664G>T (n.*664G>T) c.9051G>T (p.Gln3017His) c.1518G>T (p.Gln506His) n.1229G>T c.9110G>T (n.9110G>T) c.1980G>T c.59G>T c.9006G>T (p.Gln3002His) | ClinVar gnomAD v4 |
13 | g.32379899T>A | CA387757700 | BRCA2 | c.9103T>A (p.Tyr3035Asn) c.*470T>A (n.*470T>A) c.8734T>A (p.Tyr2912Asn) c.*665T>A (n.*665T>A) c.9052T>A (p.Tyr3018Asn) c.1519T>A (p.Tyr507Asn) n.1230T>A c.9111T>A (n.9111T>A) c.1981T>A c.60T>A c.9007T>A (p.Tyr3003Asn) | dbSNP |
13 | g.32379899T>C | CA387757701 | BRCA2 | c.9103T>C (p.Tyr3035His) c.*470T>C (n.*470T>C) c.8734T>C (p.Tyr2912His) c.*665T>C (n.*665T>C) c.9052T>C (p.Tyr3018His) c.1519T>C (p.Tyr507His) n.1230T>C c.9111T>C (n.9111T>C) c.1981T>C c.60T>C c.9007T>C (p.Tyr3003His) | ClinVar dbSNP |
13 | g.32379899T>G | CA387757703 | BRCA2 | c.9103T>G (p.Tyr3035Asp) c.*470T>G (n.*470T>G) c.8734T>G (p.Tyr2912Asp) c.*665T>G (n.*665T>G) c.9052T>G (p.Tyr3018Asp) c.1519T>G (p.Tyr507Asp) n.1230T>G c.9111T>G (n.9111T>G) c.1981T>G c.60T>G c.9007T>G (p.Tyr3003Asp) | dbSNP |
13 | g.32379899dup | CA645372938 | BRCA2 | c.9103dup (p.Tyr3035LeufsTer9) c.*470dup (n.*470dup) c.8734dup (p.Tyr2912LeufsTer9) c.*665dup (n.*665dup) c.9052dup (p.Tyr3018LeufsTer9) c.1519dup (p.Tyr507LeufsTer9) n.1230dup c.9111dup (n.9111dup) c.1981dup c.60dup c.9007dup (p.Tyr3003LeufsTer9) | ClinVar dbSNP gnomAD v4 |
13 | g.32379900A= | CA2082839205 | BRCA2 | c.9104A= (p.Tyr3035=) c.*471A= (n.*471A=) c.8735A= (p.Tyr2912=) c.*666A= (n.*666A=) c.9053A= (p.Tyr3018=) c.1520A= (p.Tyr507=) n.1231A= c.9112A= (n.9112A=) c.1982A= c.61A= c.9008A= (p.Tyr3003=) | |
13 | g.32379900A>C | CA025980 | BRCA2 | c.9104A>C (p.Tyr3035Ser) c.*471A>C (n.*471A>C) c.8735A>C (p.Tyr2912Ser) c.*666A>C (n.*666A>C) c.9053A>C (p.Tyr3018Ser) c.1520A>C (p.Tyr507Ser) n.1231A>C c.9112A>C (n.9112A>C) c.1982A>C c.61A>C c.9008A>C (p.Tyr3003Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379900A>G | CA025981 | BRCA2 | c.9104A>G (p.Tyr3035Cys) c.*471A>G (n.*471A>G) c.8735A>G (p.Tyr2912Cys) c.*666A>G (n.*666A>G) c.9053A>G (p.Tyr3018Cys) c.1520A>G (p.Tyr507Cys) n.1231A>G c.9112A>G (n.9112A>G) c.1982A>G c.61A>G c.9008A>G (p.Tyr3003Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379900A>T | CA10579811 | BRCA2 | c.9104A>T (p.Tyr3035Phe) c.*471A>T (n.*471A>T) c.8735A>T (p.Tyr2912Phe) c.*666A>T (n.*666A>T) c.9053A>T (p.Tyr3018Phe) c.1520A>T (p.Tyr507Phe) n.1231A>T c.9112A>T (n.9112A>T) c.1982A>T c.61A>T c.9008A>T (p.Tyr3003Phe) | ClinVar dbSNP |
13 | g.32379901T>A | CA387757707 | BRCA2 | c.9105T>A (p.Tyr3035Ter) c.*472T>A (n.*472T>A) c.8736T>A (p.Tyr2912Ter) c.*667T>A (n.*667T>A) c.9054T>A (p.Tyr3018Ter) c.1521T>A (p.Tyr507Ter) n.1232T>A c.9113T>A (n.9113T>A) c.1983T>A c.62T>A c.9009T>A (p.Tyr3003Ter) | ClinVar dbSNP |
13 | g.32379901T>C | CA483439892 | BRCA2 | c.9105T>C (p.Tyr3035=) c.*472T>C (n.*472T>C) c.8736T>C (p.Tyr2912=) c.*667T>C (n.*667T>C) c.9054T>C (p.Tyr3018=) c.1521T>C (p.Tyr507=) n.1232T>C c.9113T>C (n.9113T>C) c.1983T>C c.62T>C c.9009T>C (p.Tyr3003=) | |
13 | g.32379901T>G | CA10589546 | BRCA2 | c.9105T>G (p.Tyr3035Ter) c.*472T>G (n.*472T>G) c.8736T>G (p.Tyr2912Ter) c.*667T>G (n.*667T>G) c.9054T>G (p.Tyr3018Ter) c.1521T>G (p.Tyr507Ter) n.1232T>G c.9113T>G (n.9113T>G) c.1983T>G c.62T>G c.9009T>G (p.Tyr3003Ter) | ClinVar dbSNP |
13 | g.32379901T= | CA2082839223 | BRCA2 | c.9105T= (p.Tyr3035=) c.*472T= (n.*472T=) c.8736T= (p.Tyr2912=) c.*667T= (n.*667T=) c.9054T= (p.Tyr3018=) c.1521T= (p.Tyr507=) n.1232T= c.9113T= (n.9113T=) c.1983T= c.62T= c.9009T= (p.Tyr3003=) | |
13 | g.32379901_32379902delinsTC | CA2082839226 | BRCA2 | c.9105_9106delinsTC (p.Tyr3035=) c.*472_*473delinsTC (n.*472_*473delinsTC) c.8736_8737delinsTC (p.Tyr2912=) c.*667_*668delinsTC (n.*667_*668delinsTC) c.9054_9055delinsTC (p.Tyr3018=) c.1521_1522delinsTC (p.Tyr507=) n.1232_1233delinsTC c.9113_9114delinsTC (n.9113_9114delinsTC) c.1983_1984delinsTC c.62_63delinsTC c.9009_9010delinsTC (p.Tyr3003=) | |
13 | g.32379901_32379902delinsCAAAAAA | CA2580087498 | BRCA2 | c.9105_9106delinsCAAAAAA (p.Gln3036LysfsTer28) c.*472_*473delinsCAAAAAA (n.*472_*473delinsCAAAAAA) c.8736_8737delinsCAAAAAA (p.Gln2913LysfsTer28) c.*667_*668delinsCAAAAAA (n.*667_*668delinsCAAAAAA) c.9054_9055delinsCAAAAAA (p.Gln3019LysfsTer28) c.1521_1522delinsCAAAAAA (p.Gln508LysfsTer28) n.1232_1233delinsCAAAAAA c.9113_9114delinsCAAAAAA (n.9113_9114delinsCAAAAAA) c.1983_1984delinsCAAAAAA c.62_63delinsCAAAAAA c.9009_9010delinsCAAAAAA (p.Gln3004LysfsTer28) | ClinVar |
13 | g.32379901_32379904delinsTCAA | CA2082839230 | BRCA2 | c.9105_9108delinsTCAA (p.Tyr3035=) c.*472_*475delinsTCAA (n.*472_*475delinsTCAA) c.8736_8739delinsTCAA (p.Tyr2912=) c.*667_*670delinsTCAA (n.*667_*670delinsTCAA) c.9054_9057delinsTCAA (p.Tyr3018=) c.1521_1524delinsTCAA (p.Tyr507=) n.1232_1235delinsTCAA c.9113_9116delinsTCAA (n.9113_9116delinsTCAA) c.1983_1986delinsTCAA c.62_65delinsTCAA c.9009_9012delinsTCAA (p.Tyr3003=) | |
13 | g.32379902C>A | CA025982 | BRCA2 | c.9106C>A (p.Gln3036Lys) c.*473C>A (n.*473C>A) c.8737C>A (p.Gln2913Lys) c.*668C>A (n.*668C>A) c.9055C>A (p.Gln3019Lys) c.1522C>A (p.Gln508Lys) n.1233C>A c.9114C>A (n.9114C>A) c.1984C>A c.63C>A c.9010C>A (p.Gln3004Lys) | ClinVar dbSNP |
13 | g.32379902C= | CA2082839260 | BRCA2 | c.9106C= (p.Gln3036=) c.*473C= (n.*473C=) c.8737C= (p.Gln2913=) c.*668C= (n.*668C=) c.9055C= (p.Gln3019=) c.1522C= (p.Gln508=) n.1233C= c.9114C= (n.9114C=) c.1984C= c.63C= c.9010C= (p.Gln3004=) | |
13 | g.32379902C>G | CA025983 | BRCA2 | c.9106C>G (p.Gln3036Glu) c.*473C>G (n.*473C>G) c.8737C>G (p.Gln2913Glu) c.*668C>G (n.*668C>G) c.9055C>G (p.Gln3019Glu) c.1522C>G (p.Gln508Glu) n.1233C>G c.9114C>G (n.9114C>G) c.1984C>G c.63C>G c.9010C>G (p.Gln3004Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379902C>T | CA10589547 | BRCA2 | c.9106C>T (p.Gln3036Ter) c.*473C>T (n.*473C>T) c.8737C>T (p.Gln2913Ter) c.*668C>T (n.*668C>T) c.9055C>T (p.Gln3019Ter) c.1522C>T (p.Gln508Ter) n.1233C>T c.9114C>T (n.9114C>T) c.1984C>T c.63C>T c.9010C>T (p.Gln3004Ter) | ClinVar dbSNP |
13 | g.32379902delinsTACT | CA10589548 | BRCA2 | c.9106delinsTACT (p.Gln3036TyrfsTer2) c.*473delinsTACT (n.*473delinsTACT) c.8737delinsTACT (p.Gln2913TyrfsTer2) c.*668delinsTACT (n.*668delinsTACT) c.9055delinsTACT (p.Gln3019TyrfsTer2) c.1522delinsTACT (p.Gln508TyrfsTer2) n.1233delinsTACT c.9114delinsTACT (n.9114delinsTACT) c.1984delinsTACT c.63delinsTACT c.9010delinsTACT (p.Gln3004TyrfsTer2) | ClinVar dbSNP |
13 | g.32379906_32379908del | CA16619787 | BRCA2 | c.9110_9112del (p.Gln3037del) c.*477_*479del (n.*477_*479del) c.8741_8743del (p.Gln2914del) c.*672_*674del (n.*672_*674del) c.9059_9061del (p.Gln3020del) c.1526_1528del (p.Gln509del) n.1237_1239del c.9118_9120del (n.9118_9120del) c.1988_1990del c.67_69del c.9014_9016del (p.Gln3005del) | ClinVar dbSNP gnomAD v4 |
13 | g.32379903A>C | CA387757716 | BRCA2 | c.9107A>C (p.Gln3036Pro) c.*474A>C (n.*474A>C) c.8738A>C (p.Gln2913Pro) c.*669A>C (n.*669A>C) c.9056A>C (p.Gln3019Pro) c.1523A>C (p.Gln508Pro) n.1234A>C c.9115A>C (n.9115A>C) c.1985A>C c.64A>C c.9011A>C (p.Gln3004Pro) | ClinVar dbSNP |
13 | g.32379903A>G | CA387757713 | BRCA2 | c.9107A>G (p.Gln3036Arg) c.*474A>G (n.*474A>G) c.8738A>G (p.Gln2913Arg) c.*669A>G (n.*669A>G) c.9056A>G (p.Gln3019Arg) c.1523A>G (p.Gln508Arg) n.1234A>G c.9115A>G (n.9115A>G) c.1985A>G c.64A>G c.9011A>G (p.Gln3004Arg) | ClinVar |
13 | g.32379903A>T | CA387757718 | BRCA2 | c.9107A>T (p.Gln3036Leu) c.*474A>T (n.*474A>T) c.8738A>T (p.Gln2913Leu) c.*669A>T (n.*669A>T) c.9056A>T (p.Gln3019Leu) c.1523A>T (p.Gln508Leu) n.1234A>T c.9115A>T (n.9115A>T) c.1985A>T c.64A>T c.9011A>T (p.Gln3004Leu) | dbSNP |
13 | g.32379904A= | CA2082839271 | BRCA2 | c.9108A= (p.Gln3036=) c.*475A= (n.*475A=) c.8739A= (p.Gln2913=) c.*670A= (n.*670A=) c.9057A= (p.Gln3019=) c.1524A= (p.Gln508=) n.1235A= c.9116A= (n.9116A=) c.1986A= c.65A= c.9012A= (p.Gln3004=) | |
13 | g.32379904A>C | CA387757720 | BRCA2 | c.9108A>C (p.Gln3036His) c.*475A>C (n.*475A>C) c.8739A>C (p.Gln2913His) c.*670A>C (n.*670A>C) c.9057A>C (p.Gln3019His) c.1524A>C (p.Gln508His) n.1235A>C c.9116A>C (n.9116A>C) c.1986A>C c.65A>C c.9012A>C (p.Gln3004His) | dbSNP |
13 | g.32379904A>G | CA025984 | BRCA2 | c.9108A>G (p.Gln3036=) c.*475A>G (n.*475A>G) c.8739A>G (p.Gln2913=) c.*670A>G (n.*670A>G) c.9057A>G (p.Gln3019=) c.1524A>G (p.Gln508=) n.1235A>G c.9116A>G (n.9116A>G) c.1986A>G c.65A>G c.9012A>G (p.Gln3004=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.32379904A>T | CA387757723 | BRCA2 | c.9108A>T (p.Gln3036His) c.*475A>T (n.*475A>T) c.8739A>T (p.Gln2913His) c.*670A>T (n.*670A>T) c.9057A>T (p.Gln3019His) c.1524A>T (p.Gln508His) n.1235A>T c.9116A>T (n.9116A>T) c.1986A>T c.65A>T c.9012A>T (p.Gln3004His) | dbSNP |
13 | g.32379905C>A | CA387757725 | BRCA2 | c.9109C>A (p.Gln3037Lys) c.*476C>A (n.*476C>A) c.8740C>A (p.Gln2914Lys) c.*671C>A (n.*671C>A) c.9058C>A (p.Gln3020Lys) c.1525C>A (p.Gln509Lys) n.1236C>A c.9117C>A (n.9117C>A) c.1987C>A c.66C>A c.9013C>A (p.Gln3005Lys) | ClinVar dbSNP |
13 | g.32379905C= | CA2082839311 | BRCA2 | c.9109C= (p.Gln3037=) c.*476C= (n.*476C=) c.8740C= (p.Gln2914=) c.*671C= (n.*671C=) c.9058C= (p.Gln3020=) c.1525C= (p.Gln509=) n.1236C= c.9117C= (n.9117C=) c.1987C= c.66C= c.9013C= (p.Gln3005=) | |
13 | g.32379905C>G | CA387757727 | BRCA2 | c.9109C>G (p.Gln3037Glu) c.*476C>G (n.*476C>G) c.8740C>G (p.Gln2914Glu) c.*671C>G (n.*671C>G) c.9058C>G (p.Gln3020Glu) c.1525C>G (p.Gln509Glu) n.1236C>G c.9117C>G (n.9117C>G) c.1987C>G c.66C>G c.9013C>G (p.Gln3005Glu) | dbSNP |
13 | g.32379905C>T | CA025985 | BRCA2 | c.9109C>T (p.Gln3037Ter) c.*476C>T (n.*476C>T) c.8740C>T (p.Gln2914Ter) c.*671C>T (n.*671C>T) c.9058C>T (p.Gln3020Ter) c.1525C>T (p.Gln509Ter) n.1236C>T c.9117C>T (n.9117C>T) c.1987C>T c.66C>T c.9013C>T (p.Gln3005Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32379906A= | CA2082839338 | BRCA2 | c.9110A= (p.Gln3037=) c.*477A= (n.*477A=) c.8741A= (p.Gln2914=) c.*672A= (n.*672A=) c.9059A= (p.Gln3020=) c.1526A= (p.Gln509=) n.1237A= c.9118A= (n.9118A=) c.1988A= c.67A= c.9014A= (p.Gln3005=) | |
13 | g.32379906A>C | CA387757730 | BRCA2 | c.9110A>C (p.Gln3037Pro) c.*477A>C (n.*477A>C) c.8741A>C (p.Gln2914Pro) c.*672A>C (n.*672A>C) c.9059A>C (p.Gln3020Pro) c.1526A>C (p.Gln509Pro) n.1237A>C c.9118A>C (n.9118A>C) c.1988A>C c.67A>C c.9014A>C (p.Gln3005Pro) | |
13 | g.32379906A>G | CA387757732 | BRCA2 | c.9110A>G (p.Gln3037Arg) c.*477A>G (n.*477A>G) c.8741A>G (p.Gln2914Arg) c.*672A>G (n.*672A>G) c.9059A>G (p.Gln3020Arg) c.1526A>G (p.Gln509Arg) n.1237A>G c.9118A>G (n.9118A>G) c.1988A>G c.67A>G c.9014A>G (p.Gln3005Arg) | ClinVar dbSNP |
13 | g.32379906A>T | CA387757734 | BRCA2 | c.9110A>T (p.Gln3037Leu) c.*477A>T (n.*477A>T) c.8741A>T (p.Gln2914Leu) c.*672A>T (n.*672A>T) c.9059A>T (p.Gln3020Leu) c.1526A>T (p.Gln509Leu) n.1237A>T c.9118A>T (n.9118A>T) c.1988A>T c.67A>T c.9014A>T (p.Gln3005Leu) | dbSNP |
13 | g.32379907A= | CA2082839351 | BRCA2 | c.9111A= (p.Gln3037=) c.*478A= (n.*478A=) c.8742A= (p.Gln2914=) c.*673A= (n.*673A=) c.9060A= (p.Gln3020=) c.1527A= (p.Gln509=) n.1238A= c.9119A= (n.9119A=) c.1989A= c.68A= c.9015A= (p.Gln3005=) | |
13 | g.32379907A>C | CA387757739 | BRCA2 | c.9111A>C (p.Gln3037His) c.*478A>C (n.*478A>C) c.8742A>C (p.Gln2914His) c.*673A>C (n.*673A>C) c.9060A>C (p.Gln3020His) c.1527A>C (p.Gln509His) n.1238A>C c.9119A>C (n.9119A>C) c.1989A>C c.68A>C c.9015A>C (p.Gln3005His) | dbSNP |
13 | g.32379907A>G | CA483439893 | BRCA2 | c.9111A>G (p.Gln3037=) c.*478A>G (n.*478A>G) c.8742A>G (p.Gln2914=) c.*673A>G (n.*673A>G) c.9060A>G (p.Gln3020=) c.1527A>G (p.Gln509=) n.1238A>G c.9119A>G (n.9119A>G) c.1989A>G c.68A>G c.9015A>G (p.Gln3005=) | ClinVar dbSNP |
13 | g.32379907A>T | CA10586086 | BRCA2 | c.9111A>T (p.Gln3037His) c.*478A>T (n.*478A>T) c.8742A>T (p.Gln2914His) c.*673A>T (n.*673A>T) c.9060A>T (p.Gln3020His) c.1527A>T (p.Gln509His) n.1238A>T c.9119A>T (n.9119A>T) c.1989A>T c.68A>T c.9015A>T (p.Gln3005His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.32379909_32379911dup | CA025986 | BRCA2 | c.9113_9115dup (p.Leu3038_Pro3039insLeu) c.*480_*482dup (n.*480_*482dup) c.8744_8746dup (p.Leu2915_Pro2916insLeu) c.*675_*677dup (n.*675_*677dup) c.9062_9064dup (p.Leu3021_Pro3022insLeu) c.1529_1531dup (p.Leu510_Pro511insLeu) n.1240_1242dup c.9121_9123dup (n.9121_9123dup) c.1991_1993dup c.70_72dup c.9017_9019dup (p.Leu3006_Pro3007insLeu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379908C>A | CA387757743 | BRCA2 | c.9112C>A (p.Leu3038Ile) c.*479C>A (n.*479C>A) c.8743C>A (p.Leu2915Ile) c.*674C>A (n.*674C>A) c.9061C>A (p.Leu3021Ile) c.1528C>A (p.Leu510Ile) n.1239C>A c.9120C>A (n.9120C>A) c.1990C>A c.69C>A c.9016C>A (p.Leu3006Ile) | dbSNP |
13 | g.32379908C= | CA2082839365 | BRCA2 | c.9112C= (p.Leu3038=) c.*479C= (n.*479C=) c.8743C= (p.Leu2915=) c.*674C= (n.*674C=) c.9061C= (p.Leu3021=) c.1528C= (p.Leu510=) n.1239C= c.9120C= (n.9120C=) c.1990C= c.69C= c.9016C= (p.Leu3006=) | |
13 | g.32379908C>G | CA387757742 | BRCA2 | c.9112C>G (p.Leu3038Val) c.*479C>G (n.*479C>G) c.8743C>G (p.Leu2915Val) c.*674C>G (n.*674C>G) c.9061C>G (p.Leu3021Val) c.1528C>G (p.Leu510Val) n.1239C>G c.9120C>G (n.9120C>G) c.1990C>G c.69C>G c.9016C>G (p.Leu3006Val) | dbSNP |
13 | g.32379908C>T | CA483439894 | BRCA2 | c.9112C>T (p.Leu3038=) c.*479C>T (n.*479C>T) c.8743C>T (p.Leu2915=) c.*674C>T (n.*674C>T) c.9061C>T (p.Leu3021=) c.1528C>T (p.Leu510=) n.1239C>T c.9120C>T (n.9120C>T) c.1990C>T c.69C>T c.9016C>T (p.Leu3006=) | |
13 | g.32379909T>A | CA387757745 | BRCA2 | c.9113T>A (p.Leu3038Gln) c.*480T>A (n.*480T>A) c.8744T>A (p.Leu2915Gln) c.*675T>A (n.*675T>A) c.9062T>A (p.Leu3021Gln) c.1529T>A (p.Leu510Gln) n.1240T>A c.9121T>A (n.9121T>A) c.1991T>A c.70T>A c.9017T>A (p.Leu3006Gln) | dbSNP |
13 | g.32379909T>C | CA387757746 | BRCA2 | c.9113T>C (p.Leu3038Pro) c.*480T>C (n.*480T>C) c.8744T>C (p.Leu2915Pro) c.*675T>C (n.*675T>C) c.9062T>C (p.Leu3021Pro) c.1529T>C (p.Leu510Pro) n.1240T>C c.9121T>C (n.9121T>C) c.1991T>C c.70T>C c.9017T>C (p.Leu3006Pro) | ClinVar dbSNP |
13 | g.32379909T>G | CA387757747 | BRCA2 | c.9113T>G (p.Leu3038Arg) c.*480T>G (n.*480T>G) c.8744T>G (p.Leu2915Arg) c.*675T>G (n.*675T>G) c.9062T>G (p.Leu3021Arg) c.1529T>G (p.Leu510Arg) n.1240T>G c.9121T>G (n.9121T>G) c.1991T>G c.70T>G c.9017T>G (p.Leu3006Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379909T= | CA2082839372 | BRCA2 | c.9113T= (p.Leu3038=) c.*480T= (n.*480T=) c.8744T= (p.Leu2915=) c.*675T= (n.*675T=) c.9062T= (p.Leu3021=) c.1529T= (p.Leu510=) n.1240T= c.9121T= (n.9121T=) c.1991T= c.70T= c.9017T= (p.Leu3006=) | |
13 | g.32379909dup | CA916080541 | BRCA2 | c.9113dup (p.Pro3039ThrfsTer5) c.*480dup (n.*480dup) c.8744dup (p.Pro2916ThrfsTer5) c.*675dup (n.*675dup) c.9062dup (p.Pro3022ThrfsTer5) c.1529dup (p.Pro511ThrfsTer5) n.1240dup c.9121dup (n.9121dup) c.1991dup c.70dup c.9017dup (p.Pro3007ThrfsTer5) | ClinVar dbSNP |
13 | g.32379912_32379917del | CA2580087500 | BRCA2 | c.9116_9117+4del c.*483_*484+4del c.8747_8748+4del c.*678_*679+4del c.9065_9066+4del c.1532_1533+4del n.1243_1244+4del c.9124_9125+4del c.1994_1995+4del c.73_74+4del c.9020_9021+4del | ClinVar |
13 | g.32379910A= | CA2082839382 | BRCA2 | c.9114A= (p.Leu3038=) c.*481A= (n.*481A=) c.8745A= (p.Leu2915=) c.*676A= (n.*676A=) c.9063A= (p.Leu3021=) c.1530A= (p.Leu510=) n.1241A= c.9122A= (n.9122A=) c.1992A= c.71A= c.9018A= (p.Leu3006=) | |
13 | g.32379910A>C | CA483439895 | BRCA2 | c.9114A>C (p.Leu3038=) c.*481A>C (n.*481A>C) c.8745A>C (p.Leu2915=) c.*676A>C (n.*676A>C) c.9063A>C (p.Leu3021=) c.1530A>C (p.Leu510=) n.1241A>C c.9122A>C (n.9122A>C) c.1992A>C c.71A>C c.9018A>C (p.Leu3006=) | dbSNP |
13 | g.32379910A>G | CA483439896 | BRCA2 | c.9114A>G (p.Leu3038=) c.*481A>G (n.*481A>G) c.8745A>G (p.Leu2915=) c.*676A>G (n.*676A>G) c.9063A>G (p.Leu3021=) c.1530A>G (p.Leu510=) n.1241A>G c.9122A>G (n.9122A>G) c.1992A>G c.71A>G c.9018A>G (p.Leu3006=) | ClinVar dbSNP gnomAD v4 |
13 | g.32379910A>T | CA483439897 | BRCA2 | c.9114A>T (p.Leu3038=) c.*481A>T (n.*481A>T) c.8745A>T (p.Leu2915=) c.*676A>T (n.*676A>T) c.9063A>T (p.Leu3021=) c.1530A>T (p.Leu510=) n.1241A>T c.9122A>T (n.9122A>T) c.1992A>T c.71A>T c.9018A>T (p.Leu3006=) | ClinVar dbSNP |
13 | g.32379911C>A | CA387757749 | BRCA2 | c.9115C>A (p.Pro3039Thr) c.*482C>A (n.*482C>A) c.8746C>A (p.Pro2916Thr) c.*677C>A (n.*677C>A) c.9064C>A (p.Pro3022Thr) c.1531C>A (p.Pro511Thr) n.1242C>A c.9123C>A (n.9123C>A) c.1993C>A c.72C>A c.9019C>A (p.Pro3007Thr) | |
13 | g.32379911C= | CA2082839388 | BRCA2 | c.9115C= (p.Pro3039=) c.*482C= (n.*482C=) c.8746C= (p.Pro2916=) c.*677C= (n.*677C=) c.9064C= (p.Pro3022=) c.1531C= (p.Pro511=) n.1242C= c.9123C= (n.9123C=) c.1993C= c.72C= c.9019C= (p.Pro3007=) | |
13 | g.32379911C>G | CA387757751 | BRCA2 | c.9115C>G (p.Pro3039Ala) c.*482C>G (n.*482C>G) c.8746C>G (p.Pro2916Ala) c.*677C>G (n.*677C>G) c.9064C>G (p.Pro3022Ala) c.1531C>G (p.Pro511Ala) n.1242C>G c.9123C>G (n.9123C>G) c.1993C>G c.72C>G c.9019C>G (p.Pro3007Ala) | |
13 | g.32379911C>T | CA387757752 | BRCA2 | c.9115C>T (p.Pro3039Ser) c.*482C>T (n.*482C>T) c.8746C>T (p.Pro2916Ser) c.*677C>T (n.*677C>T) c.9064C>T (p.Pro3022Ser) c.1531C>T (p.Pro511Ser) n.1242C>T c.9123C>T (n.9123C>T) c.1993C>T c.72C>T c.9019C>T (p.Pro3007Ser) | ClinVar dbSNP COSMIC COSMIC |
13 | g.32379912C>A | CA387757753 | BRCA2 | c.9116C>A (p.Pro3039Gln) c.*483C>A (n.*483C>A) c.8747C>A (p.Pro2916Gln) c.*678C>A (n.*678C>A) c.9065C>A (p.Pro3022Gln) c.1532C>A (p.Pro511Gln) n.1243C>A c.9124C>A (n.9124C>A) c.1994C>A c.73C>A c.9020C>A (p.Pro3007Gln) | ClinVar dbSNP gnomAD v2 |
13 | g.32379912C= | CA2082839400 | BRCA2 | c.9116C= (p.Pro3039=) c.*483C= (n.*483C=) c.8747C= (p.Pro2916=) c.*678C= (n.*678C=) c.9065C= (p.Pro3022=) c.1532C= (p.Pro511=) n.1243C= c.9124C= (n.9124C=) c.1994C= c.73C= c.9020C= (p.Pro3007=) | |
13 | g.32379912C>G | CA025987 | BRCA2 | c.9116C>G (p.Pro3039Arg) c.*483C>G (n.*483C>G) c.8747C>G (p.Pro2916Arg) c.*678C>G (n.*678C>G) c.9065C>G (p.Pro3022Arg) c.1532C>G (p.Pro511Arg) n.1243C>G c.9124C>G (n.9124C>G) c.1994C>G c.73C>G c.9020C>G (p.Pro3007Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379912C>T | CA025988 | BRCA2 | c.9116C>T (p.Pro3039Leu) c.*483C>T (n.*483C>T) c.8747C>T (p.Pro2916Leu) c.*678C>T (n.*678C>T) c.9065C>T (p.Pro3022Leu) c.1532C>T (p.Pro511Leu) n.1243C>T c.9124C>T (n.9124C>T) c.1994C>T c.73C>T c.9020C>T (p.Pro3007Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379912_32379913delinsCG | CA2082839407 | BRCA2 | c.9116_9117delinsCG (p.Pro3039=) c.*483_*484delinsCG (n.*483_*484delinsCG) c.8747_8748delinsCG (p.Pro2916=) c.*678_*679delinsCG (n.*678_*679delinsCG) c.9065_9066delinsCG (p.Pro3022=) c.1532_1533delinsCG (p.Pro511=) n.1243_1244delinsCG c.9124_9125delinsCG (n.9124_9125delinsCG) c.1994_1995delinsCG c.73_74delinsCG c.9020_9021delinsCG (p.Pro3007=) | |
13 | g.32379912_32379924delinsCGGTACAAACCTT | CA2082839409 | BRCA2 | c.9116_9117+11delinsCGGTACAAACCTT c.*483_*484+11delinsCGGTACAAACCTT c.8747_8748+11delinsCGGTACAAACCTT c.*678_*679+11delinsCGGTACAAACCTT c.9065_9066+11delinsCGGTACAAACCTT c.1532_1533+11delinsCGGTACAAACCTT n.1243_1244+11delinsCGGTACAAACCTT c.9124_9125+11delinsCGGTACAAACCTT c.1994_1995+11delinsCGGTACAAACCTT c.73_74+11delinsCGGTACAAACCTT c.9020_9021+11delinsCGGTACAAACCTT | |
13 | g.32379913G>A | CA025994 | BRCA2 | c.9117G>A (p.Pro3039=) c.*484G>A (n.*484G>A) c.8748G>A (p.Pro2916=) c.*679G>A (n.*679G>A) c.9066G>A (p.Pro3022=) c.1533G>A (p.Pro511=) n.1244G>A c.9125G>A (n.9125G>A) c.1995G>A c.74G>A c.9021G>A (p.Pro3007=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32379913G>C | CA483439898 | BRCA2 | c.9117G>C (p.Pro3039=) c.*484G>C (n.*484G>C) c.8748G>C (p.Pro2916=) c.*679G>C (n.*679G>C) c.9066G>C (p.Pro3022=) c.1533G>C (p.Pro511=) n.1244G>C c.9125G>C (n.9125G>C) c.1995G>C c.74G>C c.9021G>C (p.Pro3007=) | ClinVar dbSNP |
13 | g.32379913G= | CA2082839424 | BRCA2 | c.9117G= (p.Pro3039=) c.*484G= (n.*484G=) c.8748G= (p.Pro2916=) c.*679G= (n.*679G=) c.9066G= (p.Pro3022=) c.1533G= (p.Pro511=) n.1244G= c.9125G= (n.9125G=) c.1995G= c.74G= c.9021G= (p.Pro3007=) | |
13 | g.32379913G>T | CA10602557 | BRCA2 | c.9117G>T (p.Pro3039=) c.*484G>T (n.*484G>T) c.8748G>T (p.Pro2916=) c.*679G>T (n.*679G>T) c.9066G>T (p.Pro3022=) c.1533G>T (p.Pro511=) n.1244G>T c.9125G>T (n.9125G>T) c.1995G>T c.74G>T c.9021G>T (p.Pro3007=) | ClinVar dbSNP |
13 | g.32379914del | CA10576077 | BRCA2 | c.9117+1del c.*484+1del c.8748+1del c.*679+1del c.9066+1del c.1533+1del n.1244+1del c.9125+1del c.1995+1del c.74+1del c.9021+1del | ClinVar dbSNP |
13 | g.32379913_32379924del | CA915948619 | BRCA2 | c.9117_9117+11del c.*484_*484+11del c.8748_8748+11del c.*679_*679+11del c.9066_9066+11del c.1533_1533+11del n.1244_1244+11del c.9125_9125+11del c.1995_1995+11del c.74_74+11del c.9021_9021+11del | ClinVar dbSNP |
13 | g.32379914G>A | CA025989 | BRCA2 | c.9117+1G>A (n.9117+1G>A) c.*484+1G>A (n.*484+1G>A) c.8748+1G>A (n.8748+1G>A) c.*679+1G>A (n.*679+1G>A) c.9066+1G>A (n.9066+1G>A) c.1533+1G>A (n.1533+1G>A) n.1244+1G>A c.9125+1G>A (n.9125+1G>A) c.1995+1G>A c.74+1G>A c.9021+1G>A (n.9021+1G>A) | ClinVar dbSNP gnomAD v4 |
13 | g.32379914G>C | CA387757756 | BRCA2 | c.9117+1G>C (n.9117+1G>C) c.*484+1G>C (n.*484+1G>C) c.8748+1G>C (n.8748+1G>C) c.*679+1G>C (n.*679+1G>C) c.9066+1G>C (n.9066+1G>C) c.1533+1G>C (n.1533+1G>C) n.1244+1G>C c.9125+1G>C (n.9125+1G>C) c.1995+1G>C c.74+1G>C c.9021+1G>C (n.9021+1G>C) | dbSNP |
13 | g.32379914G= | CA2082839471 | BRCA2 | c.9117+1G= (n.9117+1G=) c.*484+1G= (n.*484+1G=) c.8748+1G= (n.8748+1G=) c.*679+1G= (n.*679+1G=) c.9066+1G= (n.9066+1G=) c.1533+1G= (n.1533+1G=) n.1244+1G= c.9125+1G= (n.9125+1G=) c.1995+1G= c.74+1G= c.9021+1G= (n.9021+1G=) | |
13 | g.32379914G>T | CA025990 | BRCA2 | c.9117+1G>T (n.9117+1G>T) c.*484+1G>T (n.*484+1G>T) c.8748+1G>T (n.8748+1G>T) c.*679+1G>T (n.*679+1G>T) c.9066+1G>T (n.9066+1G>T) c.1533+1G>T (n.1533+1G>T) n.1244+1G>T c.9125+1G>T (n.9125+1G>T) c.1995+1G>T c.74+1G>T c.9021+1G>T (n.9021+1G>T) | ClinVar dbSNP |
13 | g.32379914_32379915delinsGT | CA2082839476 | BRCA2 | c.9117+1_9117+2delinsGT (n.9117+1_9117+2delinsGT) c.*484+1_*484+2delinsGT (n.*484+1_*484+2delinsGT) c.8748+1_8748+2delinsGT (n.8748+1_8748+2delinsGT) c.*679+1_*679+2delinsGT (n.*679+1_*679+2delinsGT) c.9066+1_9066+2delinsGT (n.9066+1_9066+2delinsGT) c.1533+1_1533+2delinsGT (n.1533+1_1533+2delinsGT) n.1244+1_1244+2delinsGT c.9125+1_9125+2delinsGT (n.9125+1_9125+2delinsGT) c.1995+1_1995+2delinsGT c.74+1_74+2delinsGT c.9021+1_9021+2delinsGT (n.9021+1_9021+2delinsGT) | |
13 | g.32379914_32379915delinsTC | CA891843582 | BRCA2 | c.9117+1_9117+2delinsTC (n.9117+1_9117+2delinsTC) c.*484+1_*484+2delinsTC (n.*484+1_*484+2delinsTC) c.8748+1_8748+2delinsTC (n.8748+1_8748+2delinsTC) c.*679+1_*679+2delinsTC (n.*679+1_*679+2delinsTC) c.9066+1_9066+2delinsTC (n.9066+1_9066+2delinsTC) c.1533+1_1533+2delinsTC (n.1533+1_1533+2delinsTC) n.1244+1_1244+2delinsTC c.9125+1_9125+2delinsTC (n.9125+1_9125+2delinsTC) c.1995+1_1995+2delinsTC c.74+1_74+2delinsTC c.9021+1_9021+2delinsTC (n.9021+1_9021+2delinsTC) | ClinVar dbSNP |