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.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.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.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.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.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.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.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.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 |