UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.32379810_32379813dup | CA645372936 | BRCA2 | c.9014_9017dup (p.Tyr3006Ter) c.*381_*384dup (n.*381_*384dup) c.8645_8648dup (p.Tyr2883Ter) c.*576_*579dup (n.*576_*579dup) c.8963_8966dup (p.Tyr2989Ter) c.1430_1433dup (p.Tyr478Ter) n.1141_1144dup c.9022_9025dup (n.9022_9025dup) c.1892_1895dup c.8918_8921dup (p.Tyr2974Ter) c.*52_*55dup (n.*52_*55dup) | 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_32379813del | CA025926 | BRCA2 | c.9016_9017del (p.Tyr3006GlnfsTer11) c.*383_*384del (n.*383_*384del) c.8647_8648del (p.Tyr2883GlnfsTer11) c.*578_*579del (n.*578_*579del) c.8965_8966del (p.Tyr2989GlnfsTer11) c.1432_1433del (p.Tyr478GlnfsTer11) n.1143_1144del c.9024_9025del (n.9024_9025del) c.1894_1895del c.8920_8921del (p.Tyr2974GlnfsTer11) c.*54_*55del (n.*54_*55del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32379813_32379814insTCTA | CA658823622 | BRCA2 | c.9017_9018insTCTA (p.Arg3007LeufsTer12) c.*384_*385insTCTA (n.*384_*385insTCTA) c.8648_8649insTCTA (p.Arg2884LeufsTer12) c.*579_*580insTCTA (n.*579_*580insTCTA) c.8966_8967insTCTA (p.Arg2990LeufsTer12) c.1433_1434insTCTA (p.Arg479LeufsTer12) n.1144_1145insTCTA c.9025_9026insTCTA (n.9025_9026insTCTA) c.1895_1896insTCTA c.8921_8922insTCTA (p.Arg2975LeufsTer12) c.*55_*56insTCTA (n.*55_*56insTCTA) | 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.32379813A>C | CA387757477 | BRCA2 | c.9017A>C (p.Tyr3006Ser) c.*384A>C (n.*384A>C) c.8648A>C (p.Tyr2883Ser) c.*579A>C (n.*579A>C) c.8966A>C (p.Tyr2989Ser) c.1433A>C (p.Tyr478Ser) n.1144A>C c.9025A>C (n.9025A>C) c.1895A>C c.8921A>C (p.Tyr2974Ser) c.*55A>C (n.*55A>C) | |
| 13 | g.32379813A>G | CA387757475 | BRCA2 | c.9017A>G (p.Tyr3006Cys) c.*384A>G (n.*384A>G) c.8648A>G (p.Tyr2883Cys) c.*579A>G (n.*579A>G) c.8966A>G (p.Tyr2989Cys) c.1433A>G (p.Tyr478Cys) n.1144A>G c.9025A>G (n.9025A>G) c.1895A>G c.8921A>G (p.Tyr2974Cys) c.*55A>G (n.*55A>G) | ClinVar dbSNP |
| 13 | g.32379813A>T | CA387757476 | BRCA2 | c.9017A>T (p.Tyr3006Phe) c.*384A>T (n.*384A>T) c.8648A>T (p.Tyr2883Phe) c.*579A>T (n.*579A>T) c.8966A>T (p.Tyr2989Phe) c.1433A>T (p.Tyr478Phe) n.1144A>T c.9025A>T (n.9025A>T) c.1895A>T c.8921A>T (p.Tyr2974Phe) c.*55A>T (n.*55A>T) | dbSNP |
| 13 | g.32379813dup | CA10589537 | BRCA2 | c.9017dup (p.Tyr3006Ter) c.*384dup (n.*384dup) c.8648dup (p.Tyr2883Ter) c.*579dup (n.*579dup) c.8966dup (p.Tyr2989Ter) c.1433dup (p.Tyr478Ter) n.1144dup c.9025dup (n.9025dup) c.1895dup c.8921dup (p.Tyr2974Ter) c.*55dup (n.*55dup) | ClinVar dbSNP |
| 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) |