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 |
|---|---|---|---|---|---|
| 17 | g.43084852_43094147del | CA645369660 | BRCA1 | c.1385_4186-2276del c.1259_4060-2276del c.1382_4183-2279del c.1307_4108-2276del c.784+598_874-2276del c.646+598_736-2276del c.497_3298-2276del c.1262_4063-2276del c.1244_4045-2276del c.664+598_754-2279del c.706+598_796-2276del c.670+1700_760-2276del c.*1168_*3969-2276del c.787+598_877-2276del c.409+598_499-2276del c.412+598_502-2276del c.5-30195_5-20900del (n.5-30195_5-20900del) c.-43-19625_-43-10330del (n.-43-19625_-43-10330del) c.-99+31125_-98-34661del (n.-99+31125_-98-34661del) n.1521_4322-2276del n.1562_4363-2276del | ClinVar |
| 17 | g.43090942_43094828del | CA2499224437 | BRCA1 | c.705_4185+4del c.579_4059+4del c.702_4182+4del c.627_4107+4del c.702_873+4del c.564_735+4del c.-184_3297+4del c.582_4062+4del c.564_4044+4del c.582_753+4del c.624_795+4del c.670+1020_759+4del c.*488_*3968+4del c.705_876+4del c.327_498+4del c.330_501+4del c.4+30356_5-26989del (n.4+30356_5-26989del) c.-43-20305_-43-16419del (n.-43-20305_-43-16419del) c.-99+30445_-99+34331del (n.-99+30445_-99+34331del) n.841_4321+4del n.882_4362+4del | ClinVar |
| 17 | g.43090946_43097291del | CA2580061395 | BRCA1 | c.549_4185+1del c.545-2428_4059+1del c.546_4182+1del c.471_4107+1del c.546_873+1del c.408_735+1del c.-218-2428_3297+1del c.548-2428_4062+1del c.408_4044+1del c.548-2428_753+1del c.468_795+1del c.549_759+1del c.*332_*3968+1del c.549_876+1del c.293-2428_498+1del c.296-2428_501+1del c.4+27894_5-26992del (n.4+27894_5-26992del) c.-43-22767_-43-16422del (n.-43-22767_-43-16422del) c.-99+27983_-99+34328del (n.-99+27983_-99+34328del) n.685_4321+1del n.726_4362+1del | ClinVar |
| 17 | g.43091435_43094858dup | CA2579756134 | BRCA1 | n.738_4161dup c.674_4096+1dup c.548_3970+1dup c.671_4093+1dup c.596_4018+1dup c.671_785-402dup c.533_647-402dup c.-215_3208+1dup c.551_3973+1dup c.533_3955+1dup c.551_665-402dup c.593_707-402dup c.670+989_671-402dup (n.670+989_671-402dup) c.674_4097dup (p.Ile1367LeufsTer2) c.*457_*3879+1dup c.674_788-402dup c.296_410-402dup c.299_413-402dup c.4+30325_5-27483dup (n.4+30325_5-27483dup) c.-43-20336_-43-16913dup (n.-43-20336_-43-16913dup) c.-99+30414_-99+33837dup (n.-99+30414_-99+33837dup) n.810_4232+1dup n.851_4273+1dup | |
| 17 | g.43091435_43094859dup | CA2579756133 | BRCA1 | n.736_4160dup c.672_4096dup (p.Gly1366ValfsTer10) c.546_3970dup (p.Gly1324ValfsTer10) c.669_4093dup (p.Gly1365ValfsTer10) c.594_4018dup (p.Gly1340ValfsTer10) c.669_785-403dup c.531_647-403dup c.-217_3208dup (p.Gly1070ValfsTer10) c.549_3973dup (p.Gly1325ValfsTer10) c.531_3955dup (p.Gly1319ValfsTer10) c.549_665-403dup c.591_707-403dup c.670+987_671-403dup (n.670+987_671-403dup) c.*455_*3879dup (n.*455_*3879dup) c.672_788-403dup c.294_410-403dup c.297_413-403dup c.4+30323_5-27484dup (n.4+30323_5-27484dup) c.-43-20338_-43-16914dup (n.-43-20338_-43-16914dup) c.-99+30412_-99+33836dup (n.-99+30412_-99+33836dup) n.808_4232dup n.849_4273dup | |
| 17 | g.43091437_43094862del | CA2580618251 | BRCA1 | n.735_4160del c.671_4096del c.545_3970del c.668_4093del c.593_4018del c.668_785-403del c.530_647-403del c.-218_3208del c.548_3973del c.530_3955del c.548_665-403del c.590_707-403del c.670+986_671-403del (n.670+986_671-403del) c.*454_*3879del c.671_788-403del c.293_410-403del c.296_413-403del c.4+30322_5-27484del (n.4+30322_5-27484del) c.-43-20339_-43-16914del (n.-43-20339_-43-16914del) c.-99+30411_-99+33836del (n.-99+30411_-99+33836del) n.807_4232del n.848_4273del | |
| 17 | g.43091633_43094861del | CA2580618250 | BRCA1 | n.736_3964del c.672_3900del c.546_3774del c.669_3897del c.594_3822del c.669_785-599del c.531_647-599del c.-217_3012del c.549_3777del c.531_3759del c.549_665-599del c.591_707-599del c.670+987_671-599del (n.670+987_671-599del) c.*455_*3683del c.672_788-599del c.294_410-599del c.297_413-599del c.4+30323_5-27680del (n.4+30323_5-27680del) c.-43-20338_-43-17110del (n.-43-20338_-43-17110del) c.-99+30412_-99+33640del (n.-99+30412_-99+33640del) n.808_4036del n.849_4077del | |
| 17 | g.43093359_43093460delinsAGGATTGACAAATTCTTTAAGTTCACTGGTATTTGAACACTTAGTAAAAGAACCAGGTGCATTTGTTAACTTCAGCTCTGGGAAAGTATCGCTGTCATGTCT | CA2260783879 | BRCA1 | n.2135_2236delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT c.2071_2172delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg691=) c.1945_2046delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg649=) c.2068_2169delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg690=) c.1993_2094delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg665=) c.784+1284_784+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.784+1284_784+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.646+1284_646+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.646+1284_646+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.1183_1284delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg395=) c.1948_2049delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg650=) c.1930_2031delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (p.Arg644=) c.664+1284_664+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.664+1284_664+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.706+1284_706+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.706+1284_706+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.670+2386_671-2327delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.670+2386_671-2327delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.*1854_*1955delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.*1854_*1955delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.787+1284_787+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.787+1284_787+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.409+1284_409+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.409+1284_409+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.412+1284_412+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.412+1284_412+1385delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.5-29509_5-29408delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.5-29509_5-29408delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.-43-18939_-43-18838delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.-43-18939_-43-18838delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) c.-99+31811_-99+31912delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT (n.-99+31811_-99+31912delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT) n.2207_2308delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT n.2248_2349delinsAGACATGACAGCGATACTTTCCCAGAGCTGAAGTTAACAAATGCACCTGGTTCTTTTACTAAGTGTTCAAATACCAGTGAACTTAAAGAATTTGTCAATCCT | |
| 17 | g.43093360_43093460del | CA658824015 | BRCA1 | n.2135_2235del c.2071_2171del (p.Arg691Ter) c.1945_2045del (p.Arg649Ter) c.2068_2168del (p.Arg690Ter) c.1993_2093del (p.Arg665Ter) c.784+1284_784+1384del (n.784+1284_784+1384del) c.646+1284_646+1384del (n.646+1284_646+1384del) c.1183_1283del (p.Arg395Ter) c.1948_2048del (p.Arg650Ter) c.1930_2030del (p.Arg644Ter) c.664+1284_664+1384del (n.664+1284_664+1384del) c.706+1284_706+1384del (n.706+1284_706+1384del) c.670+2386_671-2328del (n.670+2386_671-2328del) c.*1854_*1954del (n.*1854_*1954del) c.787+1284_787+1384del (n.787+1284_787+1384del) c.409+1284_409+1384del (n.409+1284_409+1384del) c.412+1284_412+1384del (n.412+1284_412+1384del) c.5-29509_5-29409del (n.5-29509_5-29409del) c.-43-18939_-43-18839del (n.-43-18939_-43-18839del) c.-99+31811_-99+31911del (n.-99+31811_-99+31911del) n.2207_2307del n.2248_2348del | ClinVar dbSNP |
| 17 | g.43093441_43093445delinsAAAGT | CA2260783968 | BRCA1 | n.2150_2154delinsACTTT c.2086_2090delinsACTTT (p.Thr696=) c.1960_1964delinsACTTT (p.Thr654=) c.2083_2087delinsACTTT (p.Thr695=) c.2008_2012delinsACTTT (p.Thr670=) c.784+1299_784+1303delinsACTTT (n.784+1299_784+1303delinsACTTT) c.646+1299_646+1303delinsACTTT (n.646+1299_646+1303delinsACTTT) c.1198_1202delinsACTTT (p.Thr400=) c.1963_1967delinsACTTT (p.Thr655=) c.1945_1949delinsACTTT (p.Thr649=) c.664+1299_664+1303delinsACTTT (n.664+1299_664+1303delinsACTTT) c.706+1299_706+1303delinsACTTT (n.706+1299_706+1303delinsACTTT) c.670+2401_670+2405delinsACTTT (n.670+2401_670+2405delinsACTTT) c.*1869_*1873delinsACTTT (n.*1869_*1873delinsACTTT) c.787+1299_787+1303delinsACTTT (n.787+1299_787+1303delinsACTTT) c.409+1299_409+1303delinsACTTT (n.409+1299_409+1303delinsACTTT) c.412+1299_412+1303delinsACTTT (n.412+1299_412+1303delinsACTTT) c.5-29494_5-29490delinsACTTT (n.5-29494_5-29490delinsACTTT) c.-43-18924_-43-18920delinsACTTT (n.-43-18924_-43-18920delinsACTTT) c.-99+31826_-99+31830delinsACTTT (n.-99+31826_-99+31830delinsACTTT) n.2222_2226delinsACTTT n.2263_2267delinsACTTT | |
| 17 | g.43093443_43093446del | CA10589895 | BRCA1 | n.2150_2153del c.2086_2089del (p.Thr696SerfsTer4) c.1960_1963del (p.Thr654SerfsTer4) c.2083_2086del (p.Thr695SerfsTer4) c.2008_2011del (p.Thr670SerfsTer4) c.784+1299_784+1302del (n.784+1299_784+1302del) c.646+1299_646+1302del (n.646+1299_646+1302del) c.1198_1201del (p.Thr400SerfsTer4) c.1963_1966del (p.Thr655SerfsTer4) c.1945_1948del (p.Thr649SerfsTer4) c.664+1299_664+1302del (n.664+1299_664+1302del) c.706+1299_706+1302del (n.706+1299_706+1302del) c.670+2401_670+2404del (n.670+2401_670+2404del) c.*1869_*1872del (n.*1869_*1872del) c.787+1299_787+1302del (n.787+1299_787+1302del) c.409+1299_409+1302del (n.409+1299_409+1302del) c.412+1299_412+1302del (n.412+1299_412+1302del) c.5-29494_5-29491del (n.5-29494_5-29491del) c.-43-18924_-43-18921del (n.-43-18924_-43-18921del) c.-99+31826_-99+31829del (n.-99+31826_-99+31829del) n.2222_2225del n.2263_2266del | ClinVar dbSNP |
| 17 | g.43093444_43093445delinsGT | CA2260783970 | BRCA1 | n.2150_2151delinsAC c.2086_2087delinsAC (p.Thr696=) c.1960_1961delinsAC (p.Thr654=) c.2083_2084delinsAC (p.Thr695=) c.2008_2009delinsAC (p.Thr670=) c.784+1299_784+1300delinsAC (n.784+1299_784+1300delinsAC) c.646+1299_646+1300delinsAC (n.646+1299_646+1300delinsAC) c.1198_1199delinsAC (p.Thr400=) c.1963_1964delinsAC (p.Thr655=) c.1945_1946delinsAC (p.Thr649=) c.664+1299_664+1300delinsAC (n.664+1299_664+1300delinsAC) c.706+1299_706+1300delinsAC (n.706+1299_706+1300delinsAC) c.670+2401_670+2402delinsAC (n.670+2401_670+2402delinsAC) c.*1869_*1870delinsAC (n.*1869_*1870delinsAC) c.787+1299_787+1300delinsAC (n.787+1299_787+1300delinsAC) c.409+1299_409+1300delinsAC (n.409+1299_409+1300delinsAC) c.412+1299_412+1300delinsAC (n.412+1299_412+1300delinsAC) c.5-29494_5-29493delinsAC (n.5-29494_5-29493delinsAC) c.-43-18924_-43-18923delinsAC (n.-43-18924_-43-18923delinsAC) c.-99+31826_-99+31827delinsAC (n.-99+31826_-99+31827delinsAC) n.2222_2223delinsAC n.2263_2264delinsAC | |
| 17 | g.43093445del | CA001386 | BRCA1 | n.2150del c.2086del (p.Thr696LeufsTer5) c.1960del (p.Thr654LeufsTer5) c.2083del (p.Thr695LeufsTer5) c.2008del (p.Thr670LeufsTer5) c.784+1299del (n.784+1299del) c.646+1299del (n.646+1299del) c.1198del (p.Thr400LeufsTer5) c.1963del (p.Thr655LeufsTer5) c.1945del (p.Thr649LeufsTer5) c.664+1299del (n.664+1299del) c.706+1299del (n.706+1299del) c.670+2401del (n.670+2401del) c.*1869del (n.*1869del) c.787+1299del (n.787+1299del) c.409+1299del (n.409+1299del) c.412+1299del (n.412+1299del) c.5-29494del (n.5-29494del) c.-43-18924del (n.-43-18924del) c.-99+31826del (n.-99+31826del) n.2222del n.2263del | ClinVar dbSNP |
| 17 | g.43093445T>A | CA10597829 | BRCA1 | n.2150A>T c.2086A>T (p.Thr696Ser) c.1960A>T (p.Thr654Ser) c.2083A>T (p.Thr695Ser) c.2008A>T (p.Thr670Ser) c.784+1299A>T (n.784+1299A>T) c.646+1299A>T (n.646+1299A>T) c.1198A>T (p.Thr400Ser) c.1963A>T (p.Thr655Ser) c.1945A>T (p.Thr649Ser) c.664+1299A>T (n.664+1299A>T) c.706+1299A>T (n.706+1299A>T) c.670+2401A>T (n.670+2401A>T) c.*1869A>T (n.*1869A>T) c.787+1299A>T (n.787+1299A>T) c.409+1299A>T (n.409+1299A>T) c.412+1299A>T (n.412+1299A>T) c.5-29494A>T (n.5-29494A>T) c.-43-18924A>T (n.-43-18924A>T) c.-99+31826A>T (n.-99+31826A>T) n.2222A>T n.2263A>T | dbSNP |
| 17 | g.43093445T>C | CA001385 | BRCA1 | n.2150A>G c.2086A>G (p.Thr696Ala) c.1960A>G (p.Thr654Ala) c.2083A>G (p.Thr695Ala) c.2008A>G (p.Thr670Ala) c.784+1299A>G (n.784+1299A>G) c.646+1299A>G (n.646+1299A>G) c.1198A>G (p.Thr400Ala) c.1963A>G (p.Thr655Ala) c.1945A>G (p.Thr649Ala) c.664+1299A>G (n.664+1299A>G) c.706+1299A>G (n.706+1299A>G) c.670+2401A>G (n.670+2401A>G) c.*1869A>G (n.*1869A>G) c.787+1299A>G (n.787+1299A>G) c.409+1299A>G (n.409+1299A>G) c.412+1299A>G (n.412+1299A>G) c.5-29494A>G (n.5-29494A>G) c.-43-18924A>G (n.-43-18924A>G) c.-99+31826A>G (n.-99+31826A>G) n.2222A>G n.2263A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093445T>G | CA10597830 | BRCA1 | n.2150A>C c.2086A>C (p.Thr696Pro) c.1960A>C (p.Thr654Pro) c.2083A>C (p.Thr695Pro) c.2008A>C (p.Thr670Pro) c.784+1299A>C (n.784+1299A>C) c.646+1299A>C (n.646+1299A>C) c.1198A>C (p.Thr400Pro) c.1963A>C (p.Thr655Pro) c.1945A>C (p.Thr649Pro) c.664+1299A>C (n.664+1299A>C) c.706+1299A>C (n.706+1299A>C) c.670+2401A>C (n.670+2401A>C) c.*1869A>C (n.*1869A>C) c.787+1299A>C (n.787+1299A>C) c.409+1299A>C (n.409+1299A>C) c.412+1299A>C (n.412+1299A>C) c.5-29494A>C (n.5-29494A>C) c.-43-18924A>C (n.-43-18924A>C) c.-99+31826A>C (n.-99+31826A>C) n.2222A>C n.2263A>C | dbSNP |
| 17 | g.43093445T= | CA2260783972 | BRCA1 | n.2150A= c.2086A= (p.Thr696=) c.1960A= (p.Thr654=) c.2083A= (p.Thr695=) c.2008A= (p.Thr670=) c.784+1299A= (n.784+1299A=) c.646+1299A= (n.646+1299A=) c.1198A= (p.Thr400=) c.1963A= (p.Thr655=) c.1945A= (p.Thr649=) c.664+1299A= (n.664+1299A=) c.706+1299A= (n.706+1299A=) c.670+2401A= (n.670+2401A=) c.*1869A= (n.*1869A=) c.787+1299A= (n.787+1299A=) c.409+1299A= (n.409+1299A=) c.412+1299A= (n.412+1299A=) c.5-29494A= (n.5-29494A=) c.-43-18924A= (n.-43-18924A=) c.-99+31826A= (n.-99+31826A=) n.2222A= n.2263A= | |
| 17 | g.43093445dup | CA10589896 | BRCA1 | n.2150dup c.2086dup (p.Thr696AsnfsTer16) c.1960dup (p.Thr654AsnfsTer16) c.2083dup (p.Thr695AsnfsTer16) c.2008dup (p.Thr670AsnfsTer16) c.784+1299dup (n.784+1299dup) c.646+1299dup (n.646+1299dup) c.1198dup (p.Thr400AsnfsTer16) c.1963dup (p.Thr655AsnfsTer16) c.1945dup (p.Thr649AsnfsTer16) c.664+1299dup (n.664+1299dup) c.706+1299dup (n.706+1299dup) c.670+2401dup (n.670+2401dup) c.*1869dup (n.*1869dup) c.787+1299dup (n.787+1299dup) c.409+1299dup (n.409+1299dup) c.412+1299dup (n.412+1299dup) c.5-29494dup (n.5-29494dup) c.-43-18924dup (n.-43-18924dup) c.-99+31826dup (n.-99+31826dup) n.2222dup n.2263dup | ClinVar dbSNP |
| 17 | g.43093446A>C | CA10597831 | BRCA1 | n.2149T>G c.2085T>G (p.Asp695Glu) c.1959T>G (p.Asp653Glu) c.2082T>G (p.Asp694Glu) c.2007T>G (p.Asp669Glu) c.784+1298T>G (n.784+1298T>G) c.646+1298T>G (n.646+1298T>G) c.1197T>G (p.Asp399Glu) c.1962T>G (p.Asp654Glu) c.1944T>G (p.Asp648Glu) c.664+1298T>G (n.664+1298T>G) c.706+1298T>G (n.706+1298T>G) c.670+2400T>G (n.670+2400T>G) c.*1868T>G (n.*1868T>G) c.787+1298T>G (n.787+1298T>G) c.409+1298T>G (n.409+1298T>G) c.412+1298T>G (n.412+1298T>G) c.5-29495T>G (n.5-29495T>G) c.-43-18925T>G (n.-43-18925T>G) c.-99+31825T>G (n.-99+31825T>G) n.2221T>G n.2262T>G | dbSNP |
| 17 | g.43093446A>G | CA500232951 | BRCA1 | n.2149T>C c.2085T>C (p.Asp695=) c.1959T>C (p.Asp653=) c.2082T>C (p.Asp694=) c.2007T>C (p.Asp669=) c.784+1298T>C (n.784+1298T>C) c.646+1298T>C (n.646+1298T>C) c.1197T>C (p.Asp399=) c.1962T>C (p.Asp654=) c.1944T>C (p.Asp648=) c.664+1298T>C (n.664+1298T>C) c.706+1298T>C (n.706+1298T>C) c.670+2400T>C (n.670+2400T>C) c.*1868T>C (n.*1868T>C) c.787+1298T>C (n.787+1298T>C) c.409+1298T>C (n.409+1298T>C) c.412+1298T>C (n.412+1298T>C) c.5-29495T>C (n.5-29495T>C) c.-43-18925T>C (n.-43-18925T>C) c.-99+31825T>C (n.-99+31825T>C) n.2221T>C n.2262T>C | dbSNP |
| 17 | g.43093446A>T | CA10597832 | BRCA1 | n.2149T>A c.2085T>A (p.Asp695Glu) c.1959T>A (p.Asp653Glu) c.2082T>A (p.Asp694Glu) c.2007T>A (p.Asp669Glu) c.784+1298T>A (n.784+1298T>A) c.646+1298T>A (n.646+1298T>A) c.1197T>A (p.Asp399Glu) c.1962T>A (p.Asp654Glu) c.1944T>A (p.Asp648Glu) c.664+1298T>A (n.664+1298T>A) c.706+1298T>A (n.706+1298T>A) c.670+2400T>A (n.670+2400T>A) c.*1868T>A (n.*1868T>A) c.787+1298T>A (n.787+1298T>A) c.409+1298T>A (n.409+1298T>A) c.412+1298T>A (n.412+1298T>A) c.5-29495T>A (n.5-29495T>A) c.-43-18925T>A (n.-43-18925T>A) c.-99+31825T>A (n.-99+31825T>A) n.2221T>A n.2262T>A | dbSNP |
| 17 | g.43093447T>A | CA10597833 | BRCA1 | n.2148A>T c.2084A>T (p.Asp695Val) c.1958A>T (p.Asp653Val) c.2081A>T (p.Asp694Val) c.2006A>T (p.Asp669Val) c.784+1297A>T (n.784+1297A>T) c.646+1297A>T (n.646+1297A>T) c.1196A>T (p.Asp399Val) c.1961A>T (p.Asp654Val) c.1943A>T (p.Asp648Val) c.664+1297A>T (n.664+1297A>T) c.706+1297A>T (n.706+1297A>T) c.670+2399A>T (n.670+2399A>T) c.*1867A>T (n.*1867A>T) c.787+1297A>T (n.787+1297A>T) c.409+1297A>T (n.409+1297A>T) c.412+1297A>T (n.412+1297A>T) c.5-29496A>T (n.5-29496A>T) c.-43-18926A>T (n.-43-18926A>T) c.-99+31824A>T (n.-99+31824A>T) n.2220A>T n.2261A>T | |
| 17 | g.43093447T>C | CA10597834 | BRCA1 | n.2148A>G c.2084A>G (p.Asp695Gly) c.1958A>G (p.Asp653Gly) c.2081A>G (p.Asp694Gly) c.2006A>G (p.Asp669Gly) c.784+1297A>G (n.784+1297A>G) c.646+1297A>G (n.646+1297A>G) c.1196A>G (p.Asp399Gly) c.1961A>G (p.Asp654Gly) c.1943A>G (p.Asp648Gly) c.664+1297A>G (n.664+1297A>G) c.706+1297A>G (n.706+1297A>G) c.670+2399A>G (n.670+2399A>G) c.*1867A>G (n.*1867A>G) c.787+1297A>G (n.787+1297A>G) c.409+1297A>G (n.409+1297A>G) c.412+1297A>G (n.412+1297A>G) c.5-29496A>G (n.5-29496A>G) c.-43-18926A>G (n.-43-18926A>G) c.-99+31824A>G (n.-99+31824A>G) n.2220A>G n.2261A>G | ClinVar |
| 17 | g.43093447T>G | CA10597835 | BRCA1 | n.2148A>C c.2084A>C (p.Asp695Ala) c.1958A>C (p.Asp653Ala) c.2081A>C (p.Asp694Ala) c.2006A>C (p.Asp669Ala) c.784+1297A>C (n.784+1297A>C) c.646+1297A>C (n.646+1297A>C) c.1196A>C (p.Asp399Ala) c.1961A>C (p.Asp654Ala) c.1943A>C (p.Asp648Ala) c.664+1297A>C (n.664+1297A>C) c.706+1297A>C (n.706+1297A>C) c.670+2399A>C (n.670+2399A>C) c.*1867A>C (n.*1867A>C) c.787+1297A>C (n.787+1297A>C) c.409+1297A>C (n.409+1297A>C) c.412+1297A>C (n.412+1297A>C) c.5-29496A>C (n.5-29496A>C) c.-43-18926A>C (n.-43-18926A>C) c.-99+31824A>C (n.-99+31824A>C) n.2220A>C n.2261A>C | |
| 17 | g.43093447_43093448delinsTC | CA2260783973 | BRCA1 | n.2147_2148delinsGA c.2083_2084delinsGA (p.Asp695=) c.1957_1958delinsGA (p.Asp653=) c.2080_2081delinsGA (p.Asp694=) c.2005_2006delinsGA (p.Asp669=) c.784+1296_784+1297delinsGA (n.784+1296_784+1297delinsGA) c.646+1296_646+1297delinsGA (n.646+1296_646+1297delinsGA) c.1195_1196delinsGA (p.Asp399=) c.1960_1961delinsGA (p.Asp654=) c.1942_1943delinsGA (p.Asp648=) c.664+1296_664+1297delinsGA (n.664+1296_664+1297delinsGA) c.706+1296_706+1297delinsGA (n.706+1296_706+1297delinsGA) c.670+2398_670+2399delinsGA (n.670+2398_670+2399delinsGA) c.*1866_*1867delinsGA (n.*1866_*1867delinsGA) c.787+1296_787+1297delinsGA (n.787+1296_787+1297delinsGA) c.409+1296_409+1297delinsGA (n.409+1296_409+1297delinsGA) c.412+1296_412+1297delinsGA (n.412+1296_412+1297delinsGA) c.5-29497_5-29496delinsGA (n.5-29497_5-29496delinsGA) c.-43-18927_-43-18926delinsGA (n.-43-18927_-43-18926delinsGA) c.-99+31823_-99+31824delinsGA (n.-99+31823_-99+31824delinsGA) n.2219_2220delinsGA n.2260_2261delinsGA | |
| 17 | g.43093448del | CA658824021 | BRCA1 | n.2147del c.2083del (p.Asp695IlefsTer6) c.1957del (p.Asp653IlefsTer6) c.2080del (p.Asp694IlefsTer6) c.2005del (p.Asp669IlefsTer6) c.784+1296del (n.784+1296del) c.646+1296del (n.646+1296del) c.1195del (p.Asp399IlefsTer6) c.1960del (p.Asp654IlefsTer6) c.1942del (p.Asp648IlefsTer6) c.664+1296del (n.664+1296del) c.706+1296del (n.706+1296del) c.670+2398del (n.670+2398del) c.*1866del (n.*1866del) c.787+1296del (n.787+1296del) c.409+1296del (n.409+1296del) c.412+1296del (n.412+1296del) c.5-29497del (n.5-29497del) c.-43-18927del (n.-43-18927del) c.-99+31823del (n.-99+31823del) n.2219del n.2260del | ClinVar dbSNP |
| 17 | g.43093448C>A | CA001384 | BRCA1 | n.2147G>T c.2083G>T (p.Asp695Tyr) c.1957G>T (p.Asp653Tyr) c.2080G>T (p.Asp694Tyr) c.2005G>T (p.Asp669Tyr) c.784+1296G>T (n.784+1296G>T) c.646+1296G>T (n.646+1296G>T) c.1195G>T (p.Asp399Tyr) c.1960G>T (p.Asp654Tyr) c.1942G>T (p.Asp648Tyr) c.664+1296G>T (n.664+1296G>T) c.706+1296G>T (n.706+1296G>T) c.670+2398G>T (n.670+2398G>T) c.*1866G>T (n.*1866G>T) c.787+1296G>T (n.787+1296G>T) c.409+1296G>T (n.409+1296G>T) c.412+1296G>T (n.412+1296G>T) c.5-29497G>T (n.5-29497G>T) c.-43-18927G>T (n.-43-18927G>T) c.-99+31823G>T (n.-99+31823G>T) n.2219G>T n.2260G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093448C= | CA2260783974 | BRCA1 | n.2147G= c.2083G= (p.Asp695=) c.1957G= (p.Asp653=) c.2080G= (p.Asp694=) c.2005G= (p.Asp669=) c.784+1296G= (n.784+1296G=) c.646+1296G= (n.646+1296G=) c.1195G= (p.Asp399=) c.1960G= (p.Asp654=) c.1942G= (p.Asp648=) c.664+1296G= (n.664+1296G=) c.706+1296G= (n.706+1296G=) c.670+2398G= (n.670+2398G=) c.*1866G= (n.*1866G=) c.787+1296G= (n.787+1296G=) c.409+1296G= (n.409+1296G=) c.412+1296G= (n.412+1296G=) c.5-29497G= (n.5-29497G=) c.-43-18927G= (n.-43-18927G=) c.-99+31823G= (n.-99+31823G=) n.2219G= n.2260G= | |
| 17 | g.43093448C>G | CA10597836 | BRCA1 | n.2147G>C c.2083G>C (p.Asp695His) c.1957G>C (p.Asp653His) c.2080G>C (p.Asp694His) c.2005G>C (p.Asp669His) c.784+1296G>C (n.784+1296G>C) c.646+1296G>C (n.646+1296G>C) c.1195G>C (p.Asp399His) c.1960G>C (p.Asp654His) c.1942G>C (p.Asp648His) c.664+1296G>C (n.664+1296G>C) c.706+1296G>C (n.706+1296G>C) c.670+2398G>C (n.670+2398G>C) c.*1866G>C (n.*1866G>C) c.787+1296G>C (n.787+1296G>C) c.409+1296G>C (n.409+1296G>C) c.412+1296G>C (n.412+1296G>C) c.5-29497G>C (n.5-29497G>C) c.-43-18927G>C (n.-43-18927G>C) c.-99+31823G>C (n.-99+31823G>C) n.2219G>C n.2260G>C | |
| 17 | g.43093448C>T | CA001383 | BRCA1 | n.2147G>A c.2083G>A (p.Asp695Asn) c.1957G>A (p.Asp653Asn) c.2080G>A (p.Asp694Asn) c.2005G>A (p.Asp669Asn) c.784+1296G>A (n.784+1296G>A) c.646+1296G>A (n.646+1296G>A) c.1195G>A (p.Asp399Asn) c.1960G>A (p.Asp654Asn) c.1942G>A (p.Asp648Asn) c.664+1296G>A (n.664+1296G>A) c.706+1296G>A (n.706+1296G>A) c.670+2398G>A (n.670+2398G>A) c.*1866G>A (n.*1866G>A) c.787+1296G>A (n.787+1296G>A) c.409+1296G>A (n.409+1296G>A) c.412+1296G>A (n.412+1296G>A) c.5-29497G>A (n.5-29497G>A) c.-43-18927G>A (n.-43-18927G>A) c.-99+31823G>A (n.-99+31823G>A) n.2219G>A n.2260G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093448_43093463delinsCGCTGTCATGTCTTTT | CA2260783975 | BRCA1 | n.2132_2147delinsAAAAGACATGACAGCG c.2068_2083delinsAAAAGACATGACAGCG (p.Lys690=) c.1942_1957delinsAAAAGACATGACAGCG (p.Lys648=) c.2065_2080delinsAAAAGACATGACAGCG (p.Lys689=) c.1990_2005delinsAAAAGACATGACAGCG (p.Lys664=) c.784+1281_784+1296delinsAAAAGACATGACAGCG (n.784+1281_784+1296delinsAAAAGACATGACAGCG) c.646+1281_646+1296delinsAAAAGACATGACAGCG (n.646+1281_646+1296delinsAAAAGACATGACAGCG) c.1180_1195delinsAAAAGACATGACAGCG (p.Lys394=) c.1945_1960delinsAAAAGACATGACAGCG (p.Lys649=) c.1927_1942delinsAAAAGACATGACAGCG (p.Lys643=) c.664+1281_664+1296delinsAAAAGACATGACAGCG (n.664+1281_664+1296delinsAAAAGACATGACAGCG) c.706+1281_706+1296delinsAAAAGACATGACAGCG (n.706+1281_706+1296delinsAAAAGACATGACAGCG) c.670+2383_670+2398delinsAAAAGACATGACAGCG (n.670+2383_670+2398delinsAAAAGACATGACAGCG) c.*1851_*1866delinsAAAAGACATGACAGCG (n.*1851_*1866delinsAAAAGACATGACAGCG) c.787+1281_787+1296delinsAAAAGACATGACAGCG (n.787+1281_787+1296delinsAAAAGACATGACAGCG) c.409+1281_409+1296delinsAAAAGACATGACAGCG (n.409+1281_409+1296delinsAAAAGACATGACAGCG) c.412+1281_412+1296delinsAAAAGACATGACAGCG (n.412+1281_412+1296delinsAAAAGACATGACAGCG) c.5-29512_5-29497delinsAAAAGACATGACAGCG (n.5-29512_5-29497delinsAAAAGACATGACAGCG) c.-43-18942_-43-18927delinsAAAAGACATGACAGCG (n.-43-18942_-43-18927delinsAAAAGACATGACAGCG) c.-99+31808_-99+31823delinsAAAAGACATGACAGCG (n.-99+31808_-99+31823delinsAAAAGACATGACAGCG) n.2204_2219delinsAAAAGACATGACAGCG n.2245_2260delinsAAAAGACATGACAGCG | |
| 17 | g.43093449G>A | CA001382 | BRCA1 | n.2146C>T c.2082C>T (p.Ser694=) c.1956C>T (p.Ser652=) c.2079C>T (p.Ser693=) c.2004C>T (p.Ser668=) c.784+1295C>T (n.784+1295C>T) c.646+1295C>T (n.646+1295C>T) c.1194C>T (p.Ser398=) c.1959C>T (p.Ser653=) c.1941C>T (p.Ser647=) c.664+1295C>T (n.664+1295C>T) c.706+1295C>T (n.706+1295C>T) c.670+2397C>T (n.670+2397C>T) c.*1865C>T (n.*1865C>T) c.787+1295C>T (n.787+1295C>T) c.409+1295C>T (n.409+1295C>T) c.412+1295C>T (n.412+1295C>T) c.5-29498C>T (n.5-29498C>T) c.-43-18928C>T (n.-43-18928C>T) c.-99+31822C>T (n.-99+31822C>T) n.2218C>T n.2259C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093449G>C | CA10597837 | BRCA1 | n.2146C>G c.2082C>G (p.Ser694Arg) c.1956C>G (p.Ser652Arg) c.2079C>G (p.Ser693Arg) c.2004C>G (p.Ser668Arg) c.784+1295C>G (n.784+1295C>G) c.646+1295C>G (n.646+1295C>G) c.1194C>G (p.Ser398Arg) c.1959C>G (p.Ser653Arg) c.1941C>G (p.Ser647Arg) c.664+1295C>G (n.664+1295C>G) c.706+1295C>G (n.706+1295C>G) c.670+2397C>G (n.670+2397C>G) c.*1865C>G (n.*1865C>G) c.787+1295C>G (n.787+1295C>G) c.409+1295C>G (n.409+1295C>G) c.412+1295C>G (n.412+1295C>G) c.5-29498C>G (n.5-29498C>G) c.-43-18928C>G (n.-43-18928C>G) c.-99+31822C>G (n.-99+31822C>G) n.2218C>G n.2259C>G | gnomAD v4 |
| 17 | g.43093449G= | CA2260783976 | BRCA1 | n.2146C= c.2082C= (p.Ser694=) c.1956C= (p.Ser652=) c.2079C= (p.Ser693=) c.2004C= (p.Ser668=) c.784+1295C= (n.784+1295C=) c.646+1295C= (n.646+1295C=) c.1194C= (p.Ser398=) c.1959C= (p.Ser653=) c.1941C= (p.Ser647=) c.664+1295C= (n.664+1295C=) c.706+1295C= (n.706+1295C=) c.670+2397C= (n.670+2397C=) c.*1865C= (n.*1865C=) c.787+1295C= (n.787+1295C=) c.409+1295C= (n.409+1295C=) c.412+1295C= (n.412+1295C=) c.5-29498C= (n.5-29498C=) c.-43-18928C= (n.-43-18928C=) c.-99+31822C= (n.-99+31822C=) n.2218C= n.2259C= | |
| 17 | g.43093449G>T | CA10597838 | BRCA1 | n.2146C>A c.2082C>A (p.Ser694Arg) c.1956C>A (p.Ser652Arg) c.2079C>A (p.Ser693Arg) c.2004C>A (p.Ser668Arg) c.784+1295C>A (n.784+1295C>A) c.646+1295C>A (n.646+1295C>A) c.1194C>A (p.Ser398Arg) c.1959C>A (p.Ser653Arg) c.1941C>A (p.Ser647Arg) c.664+1295C>A (n.664+1295C>A) c.706+1295C>A (n.706+1295C>A) c.670+2397C>A (n.670+2397C>A) c.*1865C>A (n.*1865C>A) c.787+1295C>A (n.787+1295C>A) c.409+1295C>A (n.409+1295C>A) c.412+1295C>A (n.412+1295C>A) c.5-29498C>A (n.5-29498C>A) c.-43-18928C>A (n.-43-18928C>A) c.-99+31822C>A (n.-99+31822C>A) n.2218C>A n.2259C>A | |
| 17 | g.43093449_43093453delinsACTGC | CA1139664785 | BRCA1 | n.2142_2146delinsGCAGT c.2078_2082delinsGCAGT (p.Asp693Gly) c.1952_1956delinsGCAGT (p.Asp651Gly) c.2075_2079delinsGCAGT (p.Asp692Gly) c.2000_2004delinsGCAGT (p.Asp667Gly) c.784+1291_784+1295delinsGCAGT (n.784+1291_784+1295delinsGCAGT) c.646+1291_646+1295delinsGCAGT (n.646+1291_646+1295delinsGCAGT) c.1190_1194delinsGCAGT (p.Asp397Gly) c.1955_1959delinsGCAGT (p.Asp652Gly) c.1937_1941delinsGCAGT (p.Asp646Gly) c.664+1291_664+1295delinsGCAGT (n.664+1291_664+1295delinsGCAGT) c.706+1291_706+1295delinsGCAGT (n.706+1291_706+1295delinsGCAGT) c.670+2393_670+2397delinsGCAGT (n.670+2393_670+2397delinsGCAGT) c.*1861_*1865delinsGCAGT (n.*1861_*1865delinsGCAGT) c.787+1291_787+1295delinsGCAGT (n.787+1291_787+1295delinsGCAGT) c.409+1291_409+1295delinsGCAGT (n.409+1291_409+1295delinsGCAGT) c.412+1291_412+1295delinsGCAGT (n.412+1291_412+1295delinsGCAGT) c.5-29502_5-29498delinsGCAGT (n.5-29502_5-29498delinsGCAGT) c.-43-18932_-43-18928delinsGCAGT (n.-43-18932_-43-18928delinsGCAGT) c.-99+31818_-99+31822delinsGCAGT (n.-99+31818_-99+31822delinsGCAGT) n.2214_2218delinsGCAGT n.2255_2259delinsGCAGT | ClinVar dbSNP |
| 17 | g.43093449_43093453delinsGCTGT | CA2260783977 | BRCA1 | n.2142_2146delinsACAGC c.2078_2082delinsACAGC (p.Asp693=) c.1952_1956delinsACAGC (p.Asp651=) c.2075_2079delinsACAGC (p.Asp692=) c.2000_2004delinsACAGC (p.Asp667=) c.784+1291_784+1295delinsACAGC (n.784+1291_784+1295delinsACAGC) c.646+1291_646+1295delinsACAGC (n.646+1291_646+1295delinsACAGC) c.1190_1194delinsACAGC (p.Asp397=) c.1955_1959delinsACAGC (p.Asp652=) c.1937_1941delinsACAGC (p.Asp646=) c.664+1291_664+1295delinsACAGC (n.664+1291_664+1295delinsACAGC) c.706+1291_706+1295delinsACAGC (n.706+1291_706+1295delinsACAGC) c.670+2393_670+2397delinsACAGC (n.670+2393_670+2397delinsACAGC) c.*1861_*1865delinsACAGC (n.*1861_*1865delinsACAGC) c.787+1291_787+1295delinsACAGC (n.787+1291_787+1295delinsACAGC) c.409+1291_409+1295delinsACAGC (n.409+1291_409+1295delinsACAGC) c.412+1291_412+1295delinsACAGC (n.412+1291_412+1295delinsACAGC) c.5-29502_5-29498delinsACAGC (n.5-29502_5-29498delinsACAGC) c.-43-18932_-43-18928delinsACAGC (n.-43-18932_-43-18928delinsACAGC) c.-99+31818_-99+31822delinsACAGC (n.-99+31818_-99+31822delinsACAGC) n.2214_2218delinsACAGC n.2255_2259delinsACAGC | |
| 17 | g.43093449_43093454delinsACTGTT | CA16621945 | BRCA1 | n.2141_2146delinsAACAGT c.2077_2082delinsAACAGT (p.Asp693Asn) c.1951_1956delinsAACAGT (p.Asp651Asn) c.2074_2079delinsAACAGT (p.Asp692Asn) c.1999_2004delinsAACAGT (p.Asp667Asn) c.784+1290_784+1295delinsAACAGT (n.784+1290_784+1295delinsAACAGT) c.646+1290_646+1295delinsAACAGT (n.646+1290_646+1295delinsAACAGT) c.1189_1194delinsAACAGT (p.Asp397Asn) c.1954_1959delinsAACAGT (p.Asp652Asn) c.1936_1941delinsAACAGT (p.Asp646Asn) c.664+1290_664+1295delinsAACAGT (n.664+1290_664+1295delinsAACAGT) c.706+1290_706+1295delinsAACAGT (n.706+1290_706+1295delinsAACAGT) c.670+2392_670+2397delinsAACAGT (n.670+2392_670+2397delinsAACAGT) c.*1860_*1865delinsAACAGT (n.*1860_*1865delinsAACAGT) c.787+1290_787+1295delinsAACAGT (n.787+1290_787+1295delinsAACAGT) c.409+1290_409+1295delinsAACAGT (n.409+1290_409+1295delinsAACAGT) c.412+1290_412+1295delinsAACAGT (n.412+1290_412+1295delinsAACAGT) c.5-29503_5-29498delinsAACAGT (n.5-29503_5-29498delinsAACAGT) c.-43-18933_-43-18928delinsAACAGT (n.-43-18933_-43-18928delinsAACAGT) c.-99+31817_-99+31822delinsAACAGT (n.-99+31817_-99+31822delinsAACAGT) n.2213_2218delinsAACAGT n.2254_2259delinsAACAGT | |
| 17 | g.43093449_43093463del | CA658684108 | BRCA1 | n.2132_2146del c.2068_2082del (p.Lys690_Ser694del) c.1942_1956del (p.Lys648_Ser652del) c.2065_2079del (p.Lys689_Ser693del) c.1990_2004del (p.Lys664_Ser668del) c.784+1281_784+1295del (n.784+1281_784+1295del) c.646+1281_646+1295del (n.646+1281_646+1295del) c.1180_1194del (p.Lys394_Ser398del) c.1945_1959del (p.Lys649_Ser653del) c.1927_1941del (p.Lys643_Ser647del) c.664+1281_664+1295del (n.664+1281_664+1295del) c.706+1281_706+1295del (n.706+1281_706+1295del) c.670+2383_670+2397del (n.670+2383_670+2397del) c.*1851_*1865del (n.*1851_*1865del) c.787+1281_787+1295del (n.787+1281_787+1295del) c.409+1281_409+1295del (n.409+1281_409+1295del) c.412+1281_412+1295del (n.412+1281_412+1295del) c.5-29512_5-29498del (n.5-29512_5-29498del) c.-43-18942_-43-18928del (n.-43-18942_-43-18928del) c.-99+31808_-99+31822del (n.-99+31808_-99+31822del) n.2204_2218del n.2245_2259del | ClinVar dbSNP |
| 17 | g.43093450C>A | CA10597839 | BRCA1 | n.2145G>T c.2081G>T (p.Ser694Ile) c.1955G>T (p.Ser652Ile) c.2078G>T (p.Ser693Ile) c.2003G>T (p.Ser668Ile) c.784+1294G>T (n.784+1294G>T) c.646+1294G>T (n.646+1294G>T) c.1193G>T (p.Ser398Ile) c.1958G>T (p.Ser653Ile) c.1940G>T (p.Ser647Ile) c.664+1294G>T (n.664+1294G>T) c.706+1294G>T (n.706+1294G>T) c.670+2396G>T (n.670+2396G>T) c.*1864G>T (n.*1864G>T) c.787+1294G>T (n.787+1294G>T) c.409+1294G>T (n.409+1294G>T) c.412+1294G>T (n.412+1294G>T) c.5-29499G>T (n.5-29499G>T) c.-43-18929G>T (n.-43-18929G>T) c.-99+31821G>T (n.-99+31821G>T) n.2217G>T n.2258G>T | dbSNP |
| 17 | g.43093450C= | CA2260783979 | BRCA1 | n.2145G= c.2081G= (p.Ser694=) c.1955G= (p.Ser652=) c.2078G= (p.Ser693=) c.2003G= (p.Ser668=) c.784+1294G= (n.784+1294G=) c.646+1294G= (n.646+1294G=) c.1193G= (p.Ser398=) c.1958G= (p.Ser653=) c.1940G= (p.Ser647=) c.664+1294G= (n.664+1294G=) c.706+1294G= (n.706+1294G=) c.670+2396G= (n.670+2396G=) c.*1864G= (n.*1864G=) c.787+1294G= (n.787+1294G=) c.409+1294G= (n.409+1294G=) c.412+1294G= (n.412+1294G=) c.5-29499G= (n.5-29499G=) c.-43-18929G= (n.-43-18929G=) c.-99+31821G= (n.-99+31821G=) n.2217G= n.2258G= | |
| 17 | g.43093450C>G | CA10597840 | BRCA1 | n.2145G>C c.2081G>C (p.Ser694Thr) c.1955G>C (p.Ser652Thr) c.2078G>C (p.Ser693Thr) c.2003G>C (p.Ser668Thr) c.784+1294G>C (n.784+1294G>C) c.646+1294G>C (n.646+1294G>C) c.1193G>C (p.Ser398Thr) c.1958G>C (p.Ser653Thr) c.1940G>C (p.Ser647Thr) c.664+1294G>C (n.664+1294G>C) c.706+1294G>C (n.706+1294G>C) c.670+2396G>C (n.670+2396G>C) c.*1864G>C (n.*1864G>C) c.787+1294G>C (n.787+1294G>C) c.409+1294G>C (n.409+1294G>C) c.412+1294G>C (n.412+1294G>C) c.5-29499G>C (n.5-29499G>C) c.-43-18929G>C (n.-43-18929G>C) c.-99+31821G>C (n.-99+31821G>C) n.2217G>C n.2258G>C | ClinVar dbSNP |
| 17 | g.43093450C>T | CA001381 | BRCA1 | n.2145G>A c.2081G>A (p.Ser694Asn) c.1955G>A (p.Ser652Asn) c.2078G>A (p.Ser693Asn) c.2003G>A (p.Ser668Asn) c.784+1294G>A (n.784+1294G>A) c.646+1294G>A (n.646+1294G>A) c.1193G>A (p.Ser398Asn) c.1958G>A (p.Ser653Asn) c.1940G>A (p.Ser647Asn) c.664+1294G>A (n.664+1294G>A) c.706+1294G>A (n.706+1294G>A) c.670+2396G>A (n.670+2396G>A) c.*1864G>A (n.*1864G>A) c.787+1294G>A (n.787+1294G>A) c.409+1294G>A (n.409+1294G>A) c.412+1294G>A (n.412+1294G>A) c.5-29499G>A (n.5-29499G>A) c.-43-18929G>A (n.-43-18929G>A) c.-99+31821G>A (n.-99+31821G>A) n.2217G>A n.2258G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093450_43093452delinsCTG | CA2260783978 | BRCA1 | n.2143_2145delinsCAG c.2079_2081delinsCAG (p.Asp693=) c.1953_1955delinsCAG (p.Asp651=) c.2076_2078delinsCAG (p.Asp692=) c.2001_2003delinsCAG (p.Asp667=) c.784+1292_784+1294delinsCAG (n.784+1292_784+1294delinsCAG) c.646+1292_646+1294delinsCAG (n.646+1292_646+1294delinsCAG) c.1191_1193delinsCAG (p.Asp397=) c.1956_1958delinsCAG (p.Asp652=) c.1938_1940delinsCAG (p.Asp646=) c.664+1292_664+1294delinsCAG (n.664+1292_664+1294delinsCAG) c.706+1292_706+1294delinsCAG (n.706+1292_706+1294delinsCAG) c.670+2394_670+2396delinsCAG (n.670+2394_670+2396delinsCAG) c.*1862_*1864delinsCAG (n.*1862_*1864delinsCAG) c.787+1292_787+1294delinsCAG (n.787+1292_787+1294delinsCAG) c.409+1292_409+1294delinsCAG (n.409+1292_409+1294delinsCAG) c.412+1292_412+1294delinsCAG (n.412+1292_412+1294delinsCAG) c.5-29501_5-29499delinsCAG (n.5-29501_5-29499delinsCAG) c.-43-18931_-43-18929delinsCAG (n.-43-18931_-43-18929delinsCAG) c.-99+31819_-99+31821delinsCAG (n.-99+31819_-99+31821delinsCAG) n.2215_2217delinsCAG n.2256_2258delinsCAG | |
| 17 | g.43093451del | CA658761302 | BRCA1 | n.2144del c.2080del (p.Ser694AlafsTer7) c.1954del (p.Ser652AlafsTer7) c.2077del (p.Ser693AlafsTer7) c.2002del (p.Ser668AlafsTer7) c.784+1293del (n.784+1293del) c.646+1293del (n.646+1293del) c.1192del (p.Ser398AlafsTer7) c.1957del (p.Ser653AlafsTer7) c.1939del (p.Ser647AlafsTer7) c.664+1293del (n.664+1293del) c.706+1293del (n.706+1293del) c.670+2395del (n.670+2395del) c.*1863del (n.*1863del) c.787+1293del (n.787+1293del) c.409+1293del (n.409+1293del) c.412+1293del (n.412+1293del) c.5-29500del (n.5-29500del) c.-43-18930del (n.-43-18930del) c.-99+31820del (n.-99+31820del) n.2216del n.2257del | |
| 17 | g.43093451T>A | CA10597841 | BRCA1 | n.2144A>T c.2080A>T (p.Ser694Cys) c.1954A>T (p.Ser652Cys) c.2077A>T (p.Ser693Cys) c.2002A>T (p.Ser668Cys) c.784+1293A>T (n.784+1293A>T) c.646+1293A>T (n.646+1293A>T) c.1192A>T (p.Ser398Cys) c.1957A>T (p.Ser653Cys) c.1939A>T (p.Ser647Cys) c.664+1293A>T (n.664+1293A>T) c.706+1293A>T (n.706+1293A>T) c.670+2395A>T (n.670+2395A>T) c.*1863A>T (n.*1863A>T) c.787+1293A>T (n.787+1293A>T) c.409+1293A>T (n.409+1293A>T) c.412+1293A>T (n.412+1293A>T) c.5-29500A>T (n.5-29500A>T) c.-43-18930A>T (n.-43-18930A>T) c.-99+31820A>T (n.-99+31820A>T) n.2216A>T n.2257A>T | dbSNP gnomAD v4 |
| 17 | g.43093451T>C | CA10597842 | BRCA1 | n.2144A>G c.2080A>G (p.Ser694Gly) c.1954A>G (p.Ser652Gly) c.2077A>G (p.Ser693Gly) c.2002A>G (p.Ser668Gly) c.784+1293A>G (n.784+1293A>G) c.646+1293A>G (n.646+1293A>G) c.1192A>G (p.Ser398Gly) c.1957A>G (p.Ser653Gly) c.1939A>G (p.Ser647Gly) c.664+1293A>G (n.664+1293A>G) c.706+1293A>G (n.706+1293A>G) c.670+2395A>G (n.670+2395A>G) c.*1863A>G (n.*1863A>G) c.787+1293A>G (n.787+1293A>G) c.409+1293A>G (n.409+1293A>G) c.412+1293A>G (n.412+1293A>G) c.5-29500A>G (n.5-29500A>G) c.-43-18930A>G (n.-43-18930A>G) c.-99+31820A>G (n.-99+31820A>G) n.2216A>G n.2257A>G | ClinVar dbSNP |
| 17 | g.43093451T>G | CA10597843 | BRCA1 | n.2144A>C c.2080A>C (p.Ser694Arg) c.1954A>C (p.Ser652Arg) c.2077A>C (p.Ser693Arg) c.2002A>C (p.Ser668Arg) c.784+1293A>C (n.784+1293A>C) c.646+1293A>C (n.646+1293A>C) c.1192A>C (p.Ser398Arg) c.1957A>C (p.Ser653Arg) c.1939A>C (p.Ser647Arg) c.664+1293A>C (n.664+1293A>C) c.706+1293A>C (n.706+1293A>C) c.670+2395A>C (n.670+2395A>C) c.*1863A>C (n.*1863A>C) c.787+1293A>C (n.787+1293A>C) c.409+1293A>C (n.409+1293A>C) c.412+1293A>C (n.412+1293A>C) c.5-29500A>C (n.5-29500A>C) c.-43-18930A>C (n.-43-18930A>C) c.-99+31820A>C (n.-99+31820A>C) n.2216A>C n.2257A>C | |
| 17 | g.43093451T= | CA2260783980 | BRCA1 | n.2144A= c.2080A= (p.Ser694=) c.1954A= (p.Ser652=) c.2077A= (p.Ser693=) c.2002A= (p.Ser668=) c.784+1293A= (n.784+1293A=) c.646+1293A= (n.646+1293A=) c.1192A= (p.Ser398=) c.1957A= (p.Ser653=) c.1939A= (p.Ser647=) c.664+1293A= (n.664+1293A=) c.706+1293A= (n.706+1293A=) c.670+2395A= (n.670+2395A=) c.*1863A= (n.*1863A=) c.787+1293A= (n.787+1293A=) c.409+1293A= (n.409+1293A=) c.412+1293A= (n.412+1293A=) c.5-29500A= (n.5-29500A=) c.-43-18930A= (n.-43-18930A=) c.-99+31820A= (n.-99+31820A=) n.2216A= n.2257A= | |
| 17 | g.43093451dup | CA10589897 | BRCA1 | n.2144dup c.2080dup (p.Ser694LysfsTer18) c.1954dup (p.Ser652LysfsTer18) c.2077dup (p.Ser693LysfsTer18) c.2002dup (p.Ser668LysfsTer18) c.784+1293dup (n.784+1293dup) c.646+1293dup (n.646+1293dup) c.1192dup (p.Ser398LysfsTer18) c.1957dup (p.Ser653LysfsTer18) c.1939dup (p.Ser647LysfsTer18) c.664+1293dup (n.664+1293dup) c.706+1293dup (n.706+1293dup) c.670+2395dup (n.670+2395dup) c.*1863dup (n.*1863dup) c.787+1293dup (n.787+1293dup) c.409+1293dup (n.409+1293dup) c.412+1293dup (n.412+1293dup) c.5-29500dup (n.5-29500dup) c.-43-18930dup (n.-43-18930dup) c.-99+31820dup (n.-99+31820dup) n.2216dup n.2257dup | ClinVar dbSNP |