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.43093311_43093377dup | CA10589871 | BRCA1 | n.2219_2285dup c.2155_2221dup (p.Ser741Ter) c.2029_2095dup (p.Ser699Ter) c.2152_2218dup (p.Ser740Ter) c.2077_2143dup (p.Ser715Ter) c.784+1368_784+1434dup (n.784+1368_784+1434dup) c.646+1368_646+1434dup (n.646+1368_646+1434dup) c.1267_1333dup (p.Ser445Ter) c.2032_2098dup (p.Ser700Ter) c.2014_2080dup (p.Ser694Ter) c.664+1368_664+1434dup (n.664+1368_664+1434dup) c.706+1368_706+1434dup (n.706+1368_706+1434dup) c.671-2344_671-2278dup (n.671-2344_671-2278dup) c.*1938_*2004dup (n.*1938_*2004dup) c.787+1368_787+1434dup (n.787+1368_787+1434dup) c.409+1368_409+1434dup (n.409+1368_409+1434dup) c.412+1368_412+1434dup (n.412+1368_412+1434dup) c.5-29425_5-29359dup (n.5-29425_5-29359dup) c.-43-18855_-43-18789dup (n.-43-18855_-43-18789dup) c.-99+31895_-99+31961dup (n.-99+31895_-99+31961dup) n.2291_2357dup n.2332_2398dup | ClinVar dbSNP |
| 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.43093370_43093378del | CA337040 | BRCA1 | n.2219_2227del c.2155_2163del (p.Lys719_Phe721del) c.2029_2037del (p.Lys677_Phe679del) c.2152_2160del (p.Lys718_Phe720del) c.2077_2085del (p.Lys693_Phe695del) c.784+1368_784+1376del (n.784+1368_784+1376del) c.646+1368_646+1376del (n.646+1368_646+1376del) c.1267_1275del (p.Lys423_Phe425del) c.2032_2040del (p.Lys678_Phe680del) c.2014_2022del (p.Lys672_Phe674del) c.664+1368_664+1376del (n.664+1368_664+1376del) c.706+1368_706+1376del (n.706+1368_706+1376del) c.671-2344_671-2336del (n.671-2344_671-2336del) c.*1938_*1946del (n.*1938_*1946del) c.787+1368_787+1376del (n.787+1368_787+1376del) c.409+1368_409+1376del (n.409+1368_409+1376del) c.412+1368_412+1376del (n.412+1368_412+1376del) c.5-29425_5-29417del (n.5-29425_5-29417del) c.-43-18855_-43-18847del (n.-43-18855_-43-18847del) c.-99+31895_-99+31903del (n.-99+31895_-99+31903del) n.2291_2299del n.2332_2340del | ClinVar dbSNP |
| 17 | g.43093371_43093377del | CA2695201347 | BRCA1 | n.2219_2225del c.2155_2161del (p.Lys719LeufsTer15) c.2029_2035del (p.Lys677LeufsTer15) c.2152_2158del (p.Lys718LeufsTer15) c.2077_2083del (p.Lys693LeufsTer15) c.784+1368_784+1374del (n.784+1368_784+1374del) c.646+1368_646+1374del (n.646+1368_646+1374del) c.1267_1273del (p.Lys423LeufsTer15) c.2032_2038del (p.Lys678LeufsTer15) c.2014_2020del (p.Lys672LeufsTer15) c.664+1368_664+1374del (n.664+1368_664+1374del) c.706+1368_706+1374del (n.706+1368_706+1374del) c.671-2344_671-2338del (n.671-2344_671-2338del) c.*1938_*1944del (n.*1938_*1944del) c.787+1368_787+1374del (n.787+1368_787+1374del) c.409+1368_409+1374del (n.409+1368_409+1374del) c.412+1368_412+1374del (n.412+1368_412+1374del) c.5-29425_5-29419del (n.5-29425_5-29419del) c.-43-18855_-43-18849del (n.-43-18855_-43-18849del) c.-99+31895_-99+31901del (n.-99+31895_-99+31901del) n.2291_2297del n.2332_2338del | ClinVar |
| 17 | g.43093375_43093388delinsTTAAGTTCACTGGT | CA2260783899 | BRCA1 | n.2207_2220delinsACCAGTGAACTTAA c.2143_2156delinsACCAGTGAACTTAA (p.Thr715=) c.2017_2030delinsACCAGTGAACTTAA (p.Thr673=) c.2140_2153delinsACCAGTGAACTTAA (p.Thr714=) c.2065_2078delinsACCAGTGAACTTAA (p.Thr689=) c.784+1356_784+1369delinsACCAGTGAACTTAA (n.784+1356_784+1369delinsACCAGTGAACTTAA) c.646+1356_646+1369delinsACCAGTGAACTTAA (n.646+1356_646+1369delinsACCAGTGAACTTAA) c.1255_1268delinsACCAGTGAACTTAA (p.Thr419=) c.2020_2033delinsACCAGTGAACTTAA (p.Thr674=) c.2002_2015delinsACCAGTGAACTTAA (p.Thr668=) c.664+1356_664+1369delinsACCAGTGAACTTAA (n.664+1356_664+1369delinsACCAGTGAACTTAA) c.706+1356_706+1369delinsACCAGTGAACTTAA (n.706+1356_706+1369delinsACCAGTGAACTTAA) c.671-2356_671-2343delinsACCAGTGAACTTAA (n.671-2356_671-2343delinsACCAGTGAACTTAA) c.*1926_*1939delinsACCAGTGAACTTAA (n.*1926_*1939delinsACCAGTGAACTTAA) c.787+1356_787+1369delinsACCAGTGAACTTAA (n.787+1356_787+1369delinsACCAGTGAACTTAA) c.409+1356_409+1369delinsACCAGTGAACTTAA (n.409+1356_409+1369delinsACCAGTGAACTTAA) c.412+1356_412+1369delinsACCAGTGAACTTAA (n.412+1356_412+1369delinsACCAGTGAACTTAA) c.5-29437_5-29424delinsACCAGTGAACTTAA (n.5-29437_5-29424delinsACCAGTGAACTTAA) c.-43-18867_-43-18854delinsACCAGTGAACTTAA (n.-43-18867_-43-18854delinsACCAGTGAACTTAA) c.-99+31883_-99+31896delinsACCAGTGAACTTAA (n.-99+31883_-99+31896delinsACCAGTGAACTTAA) n.2279_2292delinsACCAGTGAACTTAA n.2320_2333delinsACCAGTGAACTTAA | |
| 17 | g.43093376_43093388delinsAAAGA | CA891843733 | BRCA1 | n.2207_2219delinsTCTTT c.2143_2155delinsTCTTT (p.Thr715SerfsTer8) c.2017_2029delinsTCTTT (p.Thr673SerfsTer8) c.2140_2152delinsTCTTT (p.Thr714SerfsTer8) c.2065_2077delinsTCTTT (p.Thr689SerfsTer8) c.784+1356_784+1368delinsTCTTT (n.784+1356_784+1368delinsTCTTT) c.646+1356_646+1368delinsTCTTT (n.646+1356_646+1368delinsTCTTT) c.1255_1267delinsTCTTT (p.Thr419SerfsTer8) c.2020_2032delinsTCTTT (p.Thr674SerfsTer8) c.2002_2014delinsTCTTT (p.Thr668SerfsTer8) c.664+1356_664+1368delinsTCTTT (n.664+1356_664+1368delinsTCTTT) c.706+1356_706+1368delinsTCTTT (n.706+1356_706+1368delinsTCTTT) c.671-2356_671-2344delinsTCTTT (n.671-2356_671-2344delinsTCTTT) c.*1926_*1938delinsTCTTT (n.*1926_*1938delinsTCTTT) c.787+1356_787+1368delinsTCTTT (n.787+1356_787+1368delinsTCTTT) c.409+1356_409+1368delinsTCTTT (n.409+1356_409+1368delinsTCTTT) c.412+1356_412+1368delinsTCTTT (n.412+1356_412+1368delinsTCTTT) c.5-29437_5-29425delinsTCTTT (n.5-29437_5-29425delinsTCTTT) c.-43-18867_-43-18855delinsTCTTT (n.-43-18867_-43-18855delinsTCTTT) c.-99+31883_-99+31895delinsTCTTT (n.-99+31883_-99+31895delinsTCTTT) n.2279_2291delinsTCTTT n.2320_2332delinsTCTTT | ClinVar dbSNP |
| 17 | g.43093377A= | CA2260783901 | BRCA1 | n.2218T= c.2154T= (p.Leu718=) c.2028T= (p.Leu676=) c.2151T= (p.Leu717=) c.2076T= (p.Leu692=) c.784+1367T= (n.784+1367T=) c.646+1367T= (n.646+1367T=) c.1266T= (p.Leu422=) c.2031T= (p.Leu677=) c.2013T= (p.Leu671=) c.664+1367T= (n.664+1367T=) c.706+1367T= (n.706+1367T=) c.671-2345T= (n.671-2345T=) c.*1937T= (n.*1937T=) c.787+1367T= (n.787+1367T=) c.409+1367T= (n.409+1367T=) c.412+1367T= (n.412+1367T=) c.5-29426T= (n.5-29426T=) c.-43-18856T= (n.-43-18856T=) c.-99+31894T= (n.-99+31894T=) n.2290T= n.2331T= | |
| 17 | g.43093377A>C | CA058773 | BRCA1 | n.2218T>G c.2154T>G (p.Leu718=) c.2028T>G (p.Leu676=) c.2151T>G (p.Leu717=) c.2076T>G (p.Leu692=) c.784+1367T>G (n.784+1367T>G) c.646+1367T>G (n.646+1367T>G) c.1266T>G (p.Leu422=) c.2031T>G (p.Leu677=) c.2013T>G (p.Leu671=) c.664+1367T>G (n.664+1367T>G) c.706+1367T>G (n.706+1367T>G) c.671-2345T>G (n.671-2345T>G) c.*1937T>G (n.*1937T>G) c.787+1367T>G (n.787+1367T>G) c.409+1367T>G (n.409+1367T>G) c.412+1367T>G (n.412+1367T>G) c.5-29426T>G (n.5-29426T>G) c.-43-18856T>G (n.-43-18856T>G) c.-99+31894T>G (n.-99+31894T>G) n.2290T>G n.2331T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43093377A>G | CA500232899 | BRCA1 | n.2218T>C c.2154T>C (p.Leu718=) c.2028T>C (p.Leu676=) c.2151T>C (p.Leu717=) c.2076T>C (p.Leu692=) c.784+1367T>C (n.784+1367T>C) c.646+1367T>C (n.646+1367T>C) c.1266T>C (p.Leu422=) c.2031T>C (p.Leu677=) c.2013T>C (p.Leu671=) c.664+1367T>C (n.664+1367T>C) c.706+1367T>C (n.706+1367T>C) c.671-2345T>C (n.671-2345T>C) c.*1937T>C (n.*1937T>C) c.787+1367T>C (n.787+1367T>C) c.409+1367T>C (n.409+1367T>C) c.412+1367T>C (n.412+1367T>C) c.5-29426T>C (n.5-29426T>C) c.-43-18856T>C (n.-43-18856T>C) c.-99+31894T>C (n.-99+31894T>C) n.2290T>C n.2331T>C | dbSNP |
| 17 | g.43093377A>T | CA500232900 | BRCA1 | n.2218T>A c.2154T>A (p.Leu718=) c.2028T>A (p.Leu676=) c.2151T>A (p.Leu717=) c.2076T>A (p.Leu692=) c.784+1367T>A (n.784+1367T>A) c.646+1367T>A (n.646+1367T>A) c.1266T>A (p.Leu422=) c.2031T>A (p.Leu677=) c.2013T>A (p.Leu671=) c.664+1367T>A (n.664+1367T>A) c.706+1367T>A (n.706+1367T>A) c.671-2345T>A (n.671-2345T>A) c.*1937T>A (n.*1937T>A) c.787+1367T>A (n.787+1367T>A) c.409+1367T>A (n.409+1367T>A) c.412+1367T>A (n.412+1367T>A) c.5-29426T>A (n.5-29426T>A) c.-43-18856T>A (n.-43-18856T>A) c.-99+31894T>A (n.-99+31894T>A) n.2290T>A n.2331T>A | dbSNP |
| 17 | g.43093378A= | CA2260783902 | BRCA1 | n.2217T= c.2153T= (p.Leu718=) c.2027T= (p.Leu676=) c.2150T= (p.Leu717=) c.2075T= (p.Leu692=) c.784+1366T= (n.784+1366T=) c.646+1366T= (n.646+1366T=) c.1265T= (p.Leu422=) c.2030T= (p.Leu677=) c.2012T= (p.Leu671=) c.664+1366T= (n.664+1366T=) c.706+1366T= (n.706+1366T=) c.671-2346T= (n.671-2346T=) c.*1936T= (n.*1936T=) c.787+1366T= (n.787+1366T=) c.409+1366T= (n.409+1366T=) c.412+1366T= (n.412+1366T=) c.5-29427T= (n.5-29427T=) c.-43-18857T= (n.-43-18857T=) c.-99+31893T= (n.-99+31893T=) n.2289T= n.2330T= | |
| 17 | g.43093378A>C | CA058776 | BRCA1 | n.2217T>G c.2153T>G (p.Leu718Arg) c.2027T>G (p.Leu676Arg) c.2150T>G (p.Leu717Arg) c.2075T>G (p.Leu692Arg) c.784+1366T>G (n.784+1366T>G) c.646+1366T>G (n.646+1366T>G) c.1265T>G (p.Leu422Arg) c.2030T>G (p.Leu677Arg) c.2012T>G (p.Leu671Arg) c.664+1366T>G (n.664+1366T>G) c.706+1366T>G (n.706+1366T>G) c.671-2346T>G (n.671-2346T>G) c.*1936T>G (n.*1936T>G) c.787+1366T>G (n.787+1366T>G) c.409+1366T>G (n.409+1366T>G) c.412+1366T>G (n.412+1366T>G) c.5-29427T>G (n.5-29427T>G) c.-43-18857T>G (n.-43-18857T>G) c.-99+31893T>G (n.-99+31893T>G) n.2289T>G n.2330T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43093378A>G | CA10597696 | BRCA1 | n.2217T>C c.2153T>C (p.Leu718Pro) c.2027T>C (p.Leu676Pro) c.2150T>C (p.Leu717Pro) c.2075T>C (p.Leu692Pro) c.784+1366T>C (n.784+1366T>C) c.646+1366T>C (n.646+1366T>C) c.1265T>C (p.Leu422Pro) c.2030T>C (p.Leu677Pro) c.2012T>C (p.Leu671Pro) c.664+1366T>C (n.664+1366T>C) c.706+1366T>C (n.706+1366T>C) c.671-2346T>C (n.671-2346T>C) c.*1936T>C (n.*1936T>C) c.787+1366T>C (n.787+1366T>C) c.409+1366T>C (n.409+1366T>C) c.412+1366T>C (n.412+1366T>C) c.5-29427T>C (n.5-29427T>C) c.-43-18857T>C (n.-43-18857T>C) c.-99+31893T>C (n.-99+31893T>C) n.2289T>C n.2330T>C | ClinVar dbSNP |
| 17 | g.43093378A>T | CA10597697 | BRCA1 | n.2217T>A c.2153T>A (p.Leu718His) c.2027T>A (p.Leu676His) c.2150T>A (p.Leu717His) c.2075T>A (p.Leu692His) c.784+1366T>A (n.784+1366T>A) c.646+1366T>A (n.646+1366T>A) c.1265T>A (p.Leu422His) c.2030T>A (p.Leu677His) c.2012T>A (p.Leu671His) c.664+1366T>A (n.664+1366T>A) c.706+1366T>A (n.706+1366T>A) c.671-2346T>A (n.671-2346T>A) c.*1936T>A (n.*1936T>A) c.787+1366T>A (n.787+1366T>A) c.409+1366T>A (n.409+1366T>A) c.412+1366T>A (n.412+1366T>A) c.5-29427T>A (n.5-29427T>A) c.-43-18857T>A (n.-43-18857T>A) c.-99+31893T>A (n.-99+31893T>A) n.2289T>A n.2330T>A | dbSNP |
| 17 | g.43093378_43093382delinsAGTTC | CA2260783903 | BRCA1 | n.2213_2217delinsGAACT c.2149_2153delinsGAACT (p.Glu717=) c.2023_2027delinsGAACT (p.Glu675=) c.2146_2150delinsGAACT (p.Glu716=) c.2071_2075delinsGAACT (p.Glu691=) c.784+1362_784+1366delinsGAACT (n.784+1362_784+1366delinsGAACT) c.646+1362_646+1366delinsGAACT (n.646+1362_646+1366delinsGAACT) c.1261_1265delinsGAACT (p.Glu421=) c.2026_2030delinsGAACT (p.Glu676=) c.2008_2012delinsGAACT (p.Glu670=) c.664+1362_664+1366delinsGAACT (n.664+1362_664+1366delinsGAACT) c.706+1362_706+1366delinsGAACT (n.706+1362_706+1366delinsGAACT) c.671-2350_671-2346delinsGAACT (n.671-2350_671-2346delinsGAACT) c.*1932_*1936delinsGAACT (n.*1932_*1936delinsGAACT) c.787+1362_787+1366delinsGAACT (n.787+1362_787+1366delinsGAACT) c.409+1362_409+1366delinsGAACT (n.409+1362_409+1366delinsGAACT) c.412+1362_412+1366delinsGAACT (n.412+1362_412+1366delinsGAACT) c.5-29431_5-29427delinsGAACT (n.5-29431_5-29427delinsGAACT) c.-43-18861_-43-18857delinsGAACT (n.-43-18861_-43-18857delinsGAACT) c.-99+31889_-99+31893delinsGAACT (n.-99+31889_-99+31893delinsGAACT) n.2285_2289delinsGAACT n.2326_2330delinsGAACT | |
| 17 | g.43093379G>A | CA10597698 | BRCA1 | n.2216C>T c.2152C>T (p.Leu718Phe) c.2026C>T (p.Leu676Phe) c.2149C>T (p.Leu717Phe) c.2074C>T (p.Leu692Phe) c.784+1365C>T (n.784+1365C>T) c.646+1365C>T (n.646+1365C>T) c.1264C>T (p.Leu422Phe) c.2029C>T (p.Leu677Phe) c.2011C>T (p.Leu671Phe) c.664+1365C>T (n.664+1365C>T) c.706+1365C>T (n.706+1365C>T) c.671-2347C>T (n.671-2347C>T) c.*1935C>T (n.*1935C>T) c.787+1365C>T (n.787+1365C>T) c.409+1365C>T (n.409+1365C>T) c.412+1365C>T (n.412+1365C>T) c.5-29428C>T (n.5-29428C>T) c.-43-18858C>T (n.-43-18858C>T) c.-99+31892C>T (n.-99+31892C>T) n.2288C>T n.2329C>T | dbSNP |
| 17 | g.43093379G>C | CA10597699 | BRCA1 | n.2216C>G c.2152C>G (p.Leu718Val) c.2026C>G (p.Leu676Val) c.2149C>G (p.Leu717Val) c.2074C>G (p.Leu692Val) c.784+1365C>G (n.784+1365C>G) c.646+1365C>G (n.646+1365C>G) c.1264C>G (p.Leu422Val) c.2029C>G (p.Leu677Val) c.2011C>G (p.Leu671Val) c.664+1365C>G (n.664+1365C>G) c.706+1365C>G (n.706+1365C>G) c.671-2347C>G (n.671-2347C>G) c.*1935C>G (n.*1935C>G) c.787+1365C>G (n.787+1365C>G) c.409+1365C>G (n.409+1365C>G) c.412+1365C>G (n.412+1365C>G) c.5-29428C>G (n.5-29428C>G) c.-43-18858C>G (n.-43-18858C>G) c.-99+31892C>G (n.-99+31892C>G) n.2288C>G n.2329C>G | dbSNP |
| 17 | g.43093379G>T | CA10597700 | BRCA1 | n.2216C>A c.2152C>A (p.Leu718Ile) c.2026C>A (p.Leu676Ile) c.2149C>A (p.Leu717Ile) c.2074C>A (p.Leu692Ile) c.784+1365C>A (n.784+1365C>A) c.646+1365C>A (n.646+1365C>A) c.1264C>A (p.Leu422Ile) c.2029C>A (p.Leu677Ile) c.2011C>A (p.Leu671Ile) c.664+1365C>A (n.664+1365C>A) c.706+1365C>A (n.706+1365C>A) c.671-2347C>A (n.671-2347C>A) c.*1935C>A (n.*1935C>A) c.787+1365C>A (n.787+1365C>A) c.409+1365C>A (n.409+1365C>A) c.412+1365C>A (n.412+1365C>A) c.5-29428C>A (n.5-29428C>A) c.-43-18858C>A (n.-43-18858C>A) c.-99+31892C>A (n.-99+31892C>A) n.2288C>A n.2329C>A | dbSNP |
| 17 | g.43093379_43093382del | CA913188822 | BRCA1 | n.2213_2216del c.2149_2152del (p.Glu717LeufsTer18) c.2023_2026del (p.Glu675LeufsTer18) c.2146_2149del (p.Glu716LeufsTer18) c.2071_2074del (p.Glu691LeufsTer18) c.784+1362_784+1365del (n.784+1362_784+1365del) c.646+1362_646+1365del (n.646+1362_646+1365del) c.1261_1264del (p.Glu421LeufsTer18) c.2026_2029del (p.Glu676LeufsTer18) c.2008_2011del (p.Glu670LeufsTer18) c.664+1362_664+1365del (n.664+1362_664+1365del) c.706+1362_706+1365del (n.706+1362_706+1365del) c.671-2350_671-2347del (n.671-2350_671-2347del) c.*1932_*1935del (n.*1932_*1935del) c.787+1362_787+1365del (n.787+1362_787+1365del) c.409+1362_409+1365del (n.409+1362_409+1365del) c.412+1362_412+1365del (n.412+1362_412+1365del) c.5-29431_5-29428del (n.5-29431_5-29428del) c.-43-18861_-43-18858del (n.-43-18861_-43-18858del) c.-99+31889_-99+31892del (n.-99+31889_-99+31892del) n.2285_2288del n.2326_2329del | ClinVar dbSNP |
| 17 | g.43093381_43093388del | CA2499224520 | BRCA1 | n.2209_2216del c.2145_2152del (p.Ser716Ter) c.2019_2026del (p.Ser674Ter) c.2142_2149del (p.Ser715Ter) c.2067_2074del (p.Ser690Ter) c.784+1358_784+1365del (n.784+1358_784+1365del) c.646+1358_646+1365del (n.646+1358_646+1365del) c.1257_1264del (p.Ser420Ter) c.2022_2029del (p.Ser675Ter) c.2004_2011del (p.Ser669Ter) c.664+1358_664+1365del (n.664+1358_664+1365del) c.706+1358_706+1365del (n.706+1358_706+1365del) c.671-2354_671-2347del (n.671-2354_671-2347del) c.*1928_*1935del (n.*1928_*1935del) c.787+1358_787+1365del (n.787+1358_787+1365del) c.409+1358_409+1365del (n.409+1358_409+1365del) c.412+1358_412+1365del (n.412+1358_412+1365del) c.5-29435_5-29428del (n.5-29435_5-29428del) c.-43-18865_-43-18858del (n.-43-18865_-43-18858del) c.-99+31885_-99+31892del (n.-99+31885_-99+31892del) n.2281_2288del n.2322_2329del | ClinVar dbSNP |
| 17 | g.43093380T>A | CA10597701 | BRCA1 | n.2215A>T c.2151A>T (p.Glu717Asp) c.2025A>T (p.Glu675Asp) c.2148A>T (p.Glu716Asp) c.2073A>T (p.Glu691Asp) c.784+1364A>T (n.784+1364A>T) c.646+1364A>T (n.646+1364A>T) c.1263A>T (p.Glu421Asp) c.2028A>T (p.Glu676Asp) c.2010A>T (p.Glu670Asp) c.664+1364A>T (n.664+1364A>T) c.706+1364A>T (n.706+1364A>T) c.671-2348A>T (n.671-2348A>T) c.*1934A>T (n.*1934A>T) c.787+1364A>T (n.787+1364A>T) c.409+1364A>T (n.409+1364A>T) c.412+1364A>T (n.412+1364A>T) c.5-29429A>T (n.5-29429A>T) c.-43-18859A>T (n.-43-18859A>T) c.-99+31891A>T (n.-99+31891A>T) n.2287A>T n.2328A>T | dbSNP |
| 17 | g.43093380T>C | CA500232901 | BRCA1 | n.2215A>G c.2151A>G (p.Glu717=) c.2025A>G (p.Glu675=) c.2148A>G (p.Glu716=) c.2073A>G (p.Glu691=) c.784+1364A>G (n.784+1364A>G) c.646+1364A>G (n.646+1364A>G) c.1263A>G (p.Glu421=) c.2028A>G (p.Glu676=) c.2010A>G (p.Glu670=) c.664+1364A>G (n.664+1364A>G) c.706+1364A>G (n.706+1364A>G) c.671-2348A>G (n.671-2348A>G) c.*1934A>G (n.*1934A>G) c.787+1364A>G (n.787+1364A>G) c.409+1364A>G (n.409+1364A>G) c.412+1364A>G (n.412+1364A>G) c.5-29429A>G (n.5-29429A>G) c.-43-18859A>G (n.-43-18859A>G) c.-99+31891A>G (n.-99+31891A>G) n.2287A>G n.2328A>G | dbSNP gnomAD v4 |
| 17 | g.43093380T>G | CA10597702 | BRCA1 | n.2215A>C c.2151A>C (p.Glu717Asp) c.2025A>C (p.Glu675Asp) c.2148A>C (p.Glu716Asp) c.2073A>C (p.Glu691Asp) c.784+1364A>C (n.784+1364A>C) c.646+1364A>C (n.646+1364A>C) c.1263A>C (p.Glu421Asp) c.2028A>C (p.Glu676Asp) c.2010A>C (p.Glu670Asp) c.664+1364A>C (n.664+1364A>C) c.706+1364A>C (n.706+1364A>C) c.671-2348A>C (n.671-2348A>C) c.*1934A>C (n.*1934A>C) c.787+1364A>C (n.787+1364A>C) c.409+1364A>C (n.409+1364A>C) c.412+1364A>C (n.412+1364A>C) c.5-29429A>C (n.5-29429A>C) c.-43-18859A>C (n.-43-18859A>C) c.-99+31891A>C (n.-99+31891A>C) n.2287A>C n.2328A>C | dbSNP |
| 17 | g.43093381T>A | CA10597703 | BRCA1 | n.2214A>T c.2150A>T (p.Glu717Val) c.2024A>T (p.Glu675Val) c.2147A>T (p.Glu716Val) c.2072A>T (p.Glu691Val) c.784+1363A>T (n.784+1363A>T) c.646+1363A>T (n.646+1363A>T) c.1262A>T (p.Glu421Val) c.2027A>T (p.Glu676Val) c.2009A>T (p.Glu670Val) c.664+1363A>T (n.664+1363A>T) c.706+1363A>T (n.706+1363A>T) c.671-2349A>T (n.671-2349A>T) c.*1933A>T (n.*1933A>T) c.787+1363A>T (n.787+1363A>T) c.409+1363A>T (n.409+1363A>T) c.412+1363A>T (n.412+1363A>T) c.5-29430A>T (n.5-29430A>T) c.-43-18860A>T (n.-43-18860A>T) c.-99+31890A>T (n.-99+31890A>T) n.2286A>T n.2327A>T | dbSNP |
| 17 | g.43093381T>C | CA10597704 | BRCA1 | n.2214A>G c.2150A>G (p.Glu717Gly) c.2024A>G (p.Glu675Gly) c.2147A>G (p.Glu716Gly) c.2072A>G (p.Glu691Gly) c.784+1363A>G (n.784+1363A>G) c.646+1363A>G (n.646+1363A>G) c.1262A>G (p.Glu421Gly) c.2027A>G (p.Glu676Gly) c.2009A>G (p.Glu670Gly) c.664+1363A>G (n.664+1363A>G) c.706+1363A>G (n.706+1363A>G) c.671-2349A>G (n.671-2349A>G) c.*1933A>G (n.*1933A>G) c.787+1363A>G (n.787+1363A>G) c.409+1363A>G (n.409+1363A>G) c.412+1363A>G (n.412+1363A>G) c.5-29430A>G (n.5-29430A>G) c.-43-18860A>G (n.-43-18860A>G) c.-99+31890A>G (n.-99+31890A>G) n.2286A>G n.2327A>G | ClinVar dbSNP |
| 17 | g.43093381T>G | CA10597705 | BRCA1 | n.2214A>C c.2150A>C (p.Glu717Ala) c.2024A>C (p.Glu675Ala) c.2147A>C (p.Glu716Ala) c.2072A>C (p.Glu691Ala) c.784+1363A>C (n.784+1363A>C) c.646+1363A>C (n.646+1363A>C) c.1262A>C (p.Glu421Ala) c.2027A>C (p.Glu676Ala) c.2009A>C (p.Glu670Ala) c.664+1363A>C (n.664+1363A>C) c.706+1363A>C (n.706+1363A>C) c.671-2349A>C (n.671-2349A>C) c.*1933A>C (n.*1933A>C) c.787+1363A>C (n.787+1363A>C) c.409+1363A>C (n.409+1363A>C) c.412+1363A>C (n.412+1363A>C) c.5-29430A>C (n.5-29430A>C) c.-43-18860A>C (n.-43-18860A>C) c.-99+31890A>C (n.-99+31890A>C) n.2286A>C n.2327A>C | |
| 17 | g.43093382C>A | CA10589885 | BRCA1 | n.2213G>T c.2149G>T (p.Glu717Ter) c.2023G>T (p.Glu675Ter) c.2146G>T (p.Glu716Ter) c.2071G>T (p.Glu691Ter) c.784+1362G>T (n.784+1362G>T) c.646+1362G>T (n.646+1362G>T) c.1261G>T (p.Glu421Ter) c.2026G>T (p.Glu676Ter) c.2008G>T (p.Glu670Ter) c.664+1362G>T (n.664+1362G>T) c.706+1362G>T (n.706+1362G>T) c.671-2350G>T (n.671-2350G>T) c.*1932G>T (n.*1932G>T) c.787+1362G>T (n.787+1362G>T) c.409+1362G>T (n.409+1362G>T) c.412+1362G>T (n.412+1362G>T) c.5-29431G>T (n.5-29431G>T) c.-43-18861G>T (n.-43-18861G>T) c.-99+31889G>T (n.-99+31889G>T) n.2285G>T n.2326G>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093382C= | CA2260783904 | BRCA1 | n.2213G= c.2149G= (p.Glu717=) c.2023G= (p.Glu675=) c.2146G= (p.Glu716=) c.2071G= (p.Glu691=) c.784+1362G= (n.784+1362G=) c.646+1362G= (n.646+1362G=) c.1261G= (p.Glu421=) c.2026G= (p.Glu676=) c.2008G= (p.Glu670=) c.664+1362G= (n.664+1362G=) c.706+1362G= (n.706+1362G=) c.671-2350G= (n.671-2350G=) c.*1932G= (n.*1932G=) c.787+1362G= (n.787+1362G=) c.409+1362G= (n.409+1362G=) c.412+1362G= (n.412+1362G=) c.5-29431G= (n.5-29431G=) c.-43-18861G= (n.-43-18861G=) c.-99+31889G= (n.-99+31889G=) n.2285G= n.2326G= | |
| 17 | g.43093382C>G | CA10597706 | BRCA1 | n.2213G>C c.2149G>C (p.Glu717Gln) c.2023G>C (p.Glu675Gln) c.2146G>C (p.Glu716Gln) c.2071G>C (p.Glu691Gln) c.784+1362G>C (n.784+1362G>C) c.646+1362G>C (n.646+1362G>C) c.1261G>C (p.Glu421Gln) c.2026G>C (p.Glu676Gln) c.2008G>C (p.Glu670Gln) c.664+1362G>C (n.664+1362G>C) c.706+1362G>C (n.706+1362G>C) c.671-2350G>C (n.671-2350G>C) c.*1932G>C (n.*1932G>C) c.787+1362G>C (n.787+1362G>C) c.409+1362G>C (n.409+1362G>C) c.412+1362G>C (n.412+1362G>C) c.5-29431G>C (n.5-29431G>C) c.-43-18861G>C (n.-43-18861G>C) c.-99+31889G>C (n.-99+31889G>C) n.2285G>C n.2326G>C | |
| 17 | g.43093382C>T | CA10597707 | BRCA1 | n.2213G>A c.2149G>A (p.Glu717Lys) c.2023G>A (p.Glu675Lys) c.2146G>A (p.Glu716Lys) c.2071G>A (p.Glu691Lys) c.784+1362G>A (n.784+1362G>A) c.646+1362G>A (n.646+1362G>A) c.1261G>A (p.Glu421Lys) c.2026G>A (p.Glu676Lys) c.2008G>A (p.Glu670Lys) c.664+1362G>A (n.664+1362G>A) c.706+1362G>A (n.706+1362G>A) c.671-2350G>A (n.671-2350G>A) c.*1932G>A (n.*1932G>A) c.787+1362G>A (n.787+1362G>A) c.409+1362G>A (n.409+1362G>A) c.412+1362G>A (n.412+1362G>A) c.5-29431G>A (n.5-29431G>A) c.-43-18861G>A (n.-43-18861G>A) c.-99+31889G>A (n.-99+31889G>A) n.2285G>A n.2326G>A | ClinVar gnomAD v4 |
| 17 | g.43093383A= | CA2260783905 | BRCA1 | n.2212T= c.2148T= (p.Ser716=) c.2022T= (p.Ser674=) c.2145T= (p.Ser715=) c.2070T= (p.Ser690=) c.784+1361T= (n.784+1361T=) c.646+1361T= (n.646+1361T=) c.1260T= (p.Ser420=) c.2025T= (p.Ser675=) c.2007T= (p.Ser669=) c.664+1361T= (n.664+1361T=) c.706+1361T= (n.706+1361T=) c.671-2351T= (n.671-2351T=) c.*1931T= (n.*1931T=) c.787+1361T= (n.787+1361T=) c.409+1361T= (n.409+1361T=) c.412+1361T= (n.412+1361T=) c.5-29432T= (n.5-29432T=) c.-43-18862T= (n.-43-18862T=) c.-99+31888T= (n.-99+31888T=) n.2284T= n.2325T= | |
| 17 | g.43093383A>C | CA10597708 | BRCA1 | n.2212T>G c.2148T>G (p.Ser716Arg) c.2022T>G (p.Ser674Arg) c.2145T>G (p.Ser715Arg) c.2070T>G (p.Ser690Arg) c.784+1361T>G (n.784+1361T>G) c.646+1361T>G (n.646+1361T>G) c.1260T>G (p.Ser420Arg) c.2025T>G (p.Ser675Arg) c.2007T>G (p.Ser669Arg) c.664+1361T>G (n.664+1361T>G) c.706+1361T>G (n.706+1361T>G) c.671-2351T>G (n.671-2351T>G) c.*1931T>G (n.*1931T>G) c.787+1361T>G (n.787+1361T>G) c.409+1361T>G (n.409+1361T>G) c.412+1361T>G (n.412+1361T>G) c.5-29432T>G (n.5-29432T>G) c.-43-18862T>G (n.-43-18862T>G) c.-99+31888T>G (n.-99+31888T>G) n.2284T>G n.2325T>G | dbSNP |
| 17 | g.43093383A>G | CA500232902 | BRCA1 | n.2212T>C c.2148T>C (p.Ser716=) c.2022T>C (p.Ser674=) c.2145T>C (p.Ser715=) c.2070T>C (p.Ser690=) c.784+1361T>C (n.784+1361T>C) c.646+1361T>C (n.646+1361T>C) c.1260T>C (p.Ser420=) c.2025T>C (p.Ser675=) c.2007T>C (p.Ser669=) c.664+1361T>C (n.664+1361T>C) c.706+1361T>C (n.706+1361T>C) c.671-2351T>C (n.671-2351T>C) c.*1931T>C (n.*1931T>C) c.787+1361T>C (n.787+1361T>C) c.409+1361T>C (n.409+1361T>C) c.412+1361T>C (n.412+1361T>C) c.5-29432T>C (n.5-29432T>C) c.-43-18862T>C (n.-43-18862T>C) c.-99+31888T>C (n.-99+31888T>C) n.2284T>C n.2325T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43093383A>T | CA001440 | BRCA1 | n.2212T>A c.2148T>A (p.Ser716Arg) c.2022T>A (p.Ser674Arg) c.2145T>A (p.Ser715Arg) c.2070T>A (p.Ser690Arg) c.784+1361T>A (n.784+1361T>A) c.646+1361T>A (n.646+1361T>A) c.1260T>A (p.Ser420Arg) c.2025T>A (p.Ser675Arg) c.2007T>A (p.Ser669Arg) c.664+1361T>A (n.664+1361T>A) c.706+1361T>A (n.706+1361T>A) c.671-2351T>A (n.671-2351T>A) c.*1931T>A (n.*1931T>A) c.787+1361T>A (n.787+1361T>A) c.409+1361T>A (n.409+1361T>A) c.412+1361T>A (n.412+1361T>A) c.5-29432T>A (n.5-29432T>A) c.-43-18862T>A (n.-43-18862T>A) c.-99+31888T>A (n.-99+31888T>A) n.2284T>A n.2325T>A | ClinVar dbSNP |
| 17 | g.43093383_43093388delinsACTGGT | CA2260783906 | BRCA1 | n.2207_2212delinsACCAGT c.2143_2148delinsACCAGT (p.Thr715=) c.2017_2022delinsACCAGT (p.Thr673=) c.2140_2145delinsACCAGT (p.Thr714=) c.2065_2070delinsACCAGT (p.Thr689=) c.784+1356_784+1361delinsACCAGT (n.784+1356_784+1361delinsACCAGT) c.646+1356_646+1361delinsACCAGT (n.646+1356_646+1361delinsACCAGT) c.1255_1260delinsACCAGT (p.Thr419=) c.2020_2025delinsACCAGT (p.Thr674=) c.2002_2007delinsACCAGT (p.Thr668=) c.664+1356_664+1361delinsACCAGT (n.664+1356_664+1361delinsACCAGT) c.706+1356_706+1361delinsACCAGT (n.706+1356_706+1361delinsACCAGT) c.671-2356_671-2351delinsACCAGT (n.671-2356_671-2351delinsACCAGT) c.*1926_*1931delinsACCAGT (n.*1926_*1931delinsACCAGT) c.787+1356_787+1361delinsACCAGT (n.787+1356_787+1361delinsACCAGT) c.409+1356_409+1361delinsACCAGT (n.409+1356_409+1361delinsACCAGT) c.412+1356_412+1361delinsACCAGT (n.412+1356_412+1361delinsACCAGT) c.5-29437_5-29432delinsACCAGT (n.5-29437_5-29432delinsACCAGT) c.-43-18867_-43-18862delinsACCAGT (n.-43-18867_-43-18862delinsACCAGT) c.-99+31883_-99+31888delinsACCAGT (n.-99+31883_-99+31888delinsACCAGT) n.2279_2284delinsACCAGT n.2320_2325delinsACCAGT | |
| 17 | g.43093384del | CA2499224521 | BRCA1 | n.2211del c.2147del (p.Ser716MetfsTer20) c.2021del (p.Ser674MetfsTer20) c.2144del (p.Ser715MetfsTer20) c.2069del (p.Ser690MetfsTer20) c.784+1360del (n.784+1360del) c.646+1360del (n.646+1360del) c.1259del (p.Ser420MetfsTer20) c.2024del (p.Ser675MetfsTer20) c.2006del (p.Ser669MetfsTer20) c.664+1360del (n.664+1360del) c.706+1360del (n.706+1360del) c.671-2352del (n.671-2352del) c.*1930del (n.*1930del) c.787+1360del (n.787+1360del) c.409+1360del (n.409+1360del) c.412+1360del (n.412+1360del) c.5-29433del (n.5-29433del) c.-43-18863del (n.-43-18863del) c.-99+31887del (n.-99+31887del) n.2283del n.2324del | |
| 17 | g.43093384C>A | CA10597709 | BRCA1 | n.2211G>T c.2147G>T (p.Ser716Ile) c.2021G>T (p.Ser674Ile) c.2144G>T (p.Ser715Ile) c.2069G>T (p.Ser690Ile) c.784+1360G>T (n.784+1360G>T) c.646+1360G>T (n.646+1360G>T) c.1259G>T (p.Ser420Ile) c.2024G>T (p.Ser675Ile) c.2006G>T (p.Ser669Ile) c.664+1360G>T (n.664+1360G>T) c.706+1360G>T (n.706+1360G>T) c.671-2352G>T (n.671-2352G>T) c.*1930G>T (n.*1930G>T) c.787+1360G>T (n.787+1360G>T) c.409+1360G>T (n.409+1360G>T) c.412+1360G>T (n.412+1360G>T) c.5-29433G>T (n.5-29433G>T) c.-43-18863G>T (n.-43-18863G>T) c.-99+31887G>T (n.-99+31887G>T) n.2283G>T n.2324G>T | dbSNP |
| 17 | g.43093384C= | CA2260783907 | BRCA1 | n.2211G= c.2147G= (p.Ser716=) c.2021G= (p.Ser674=) c.2144G= (p.Ser715=) c.2069G= (p.Ser690=) c.784+1360G= (n.784+1360G=) c.646+1360G= (n.646+1360G=) c.1259G= (p.Ser420=) c.2024G= (p.Ser675=) c.2006G= (p.Ser669=) c.664+1360G= (n.664+1360G=) c.706+1360G= (n.706+1360G=) c.671-2352G= (n.671-2352G=) c.*1930G= (n.*1930G=) c.787+1360G= (n.787+1360G=) c.409+1360G= (n.409+1360G=) c.412+1360G= (n.412+1360G=) c.5-29433G= (n.5-29433G=) c.-43-18863G= (n.-43-18863G=) c.-99+31887G= (n.-99+31887G=) n.2283G= n.2324G= | |
| 17 | g.43093384C>G | CA10597710 | BRCA1 | n.2211G>C c.2147G>C (p.Ser716Thr) c.2021G>C (p.Ser674Thr) c.2144G>C (p.Ser715Thr) c.2069G>C (p.Ser690Thr) c.784+1360G>C (n.784+1360G>C) c.646+1360G>C (n.646+1360G>C) c.1259G>C (p.Ser420Thr) c.2024G>C (p.Ser675Thr) c.2006G>C (p.Ser669Thr) c.664+1360G>C (n.664+1360G>C) c.706+1360G>C (n.706+1360G>C) c.671-2352G>C (n.671-2352G>C) c.*1930G>C (n.*1930G>C) c.787+1360G>C (n.787+1360G>C) c.409+1360G>C (n.409+1360G>C) c.412+1360G>C (n.412+1360G>C) c.5-29433G>C (n.5-29433G>C) c.-43-18863G>C (n.-43-18863G>C) c.-99+31887G>C (n.-99+31887G>C) n.2283G>C n.2324G>C | ClinVar dbSNP |
| 17 | g.43093384C>T | CA10597711 | BRCA1 | n.2211G>A c.2147G>A (p.Ser716Asn) c.2021G>A (p.Ser674Asn) c.2144G>A (p.Ser715Asn) c.2069G>A (p.Ser690Asn) c.784+1360G>A (n.784+1360G>A) c.646+1360G>A (n.646+1360G>A) c.1259G>A (p.Ser420Asn) c.2024G>A (p.Ser675Asn) c.2006G>A (p.Ser669Asn) c.664+1360G>A (n.664+1360G>A) c.706+1360G>A (n.706+1360G>A) c.671-2352G>A (n.671-2352G>A) c.*1930G>A (n.*1930G>A) c.787+1360G>A (n.787+1360G>A) c.409+1360G>A (n.409+1360G>A) c.412+1360G>A (n.412+1360G>A) c.5-29433G>A (n.5-29433G>A) c.-43-18863G>A (n.-43-18863G>A) c.-99+31887G>A (n.-99+31887G>A) n.2283G>A n.2324G>A | dbSNP |
| 17 | g.43093384_43093385del | CA2697554267 | BRCA1 | n.2210_2211del c.2146_2147del (p.Ser716Ter) c.2020_2021del (p.Ser674Ter) c.2143_2144del (p.Ser715Ter) c.2068_2069del (p.Ser690Ter) c.784+1359_784+1360del (n.784+1359_784+1360del) c.646+1359_646+1360del (n.646+1359_646+1360del) c.1258_1259del (p.Ser420Ter) c.2023_2024del (p.Ser675Ter) c.2005_2006del (p.Ser669Ter) c.664+1359_664+1360del (n.664+1359_664+1360del) c.706+1359_706+1360del (n.706+1359_706+1360del) c.671-2353_671-2352del (n.671-2353_671-2352del) c.*1929_*1930del (n.*1929_*1930del) c.787+1359_787+1360del (n.787+1359_787+1360del) c.409+1359_409+1360del (n.409+1359_409+1360del) c.412+1359_412+1360del (n.412+1359_412+1360del) c.5-29434_5-29433del (n.5-29434_5-29433del) c.-43-18864_-43-18863del (n.-43-18864_-43-18863del) c.-99+31886_-99+31887del (n.-99+31886_-99+31887del) n.2282_2283del n.2323_2324del | ClinVar |
| 17 | g.43093384_43093388del | CA919844422 | BRCA1 | n.2207_2211del c.2143_2147del (p.Thr715Ter) c.2017_2021del (p.Thr673Ter) c.2140_2144del (p.Thr714Ter) c.2065_2069del (p.Thr689Ter) c.784+1356_784+1360del (n.784+1356_784+1360del) c.646+1356_646+1360del (n.646+1356_646+1360del) c.1255_1259del (p.Thr419Ter) c.2020_2024del (p.Thr674Ter) c.2002_2006del (p.Thr668Ter) c.664+1356_664+1360del (n.664+1356_664+1360del) c.706+1356_706+1360del (n.706+1356_706+1360del) c.671-2356_671-2352del (n.671-2356_671-2352del) c.*1926_*1930del (n.*1926_*1930del) c.787+1356_787+1360del (n.787+1356_787+1360del) c.409+1356_409+1360del (n.409+1356_409+1360del) c.412+1356_412+1360del (n.412+1356_412+1360del) c.5-29437_5-29433del (n.5-29437_5-29433del) c.-43-18867_-43-18863del (n.-43-18867_-43-18863del) c.-99+31883_-99+31887del (n.-99+31883_-99+31887del) n.2279_2283del n.2320_2324del | dbSNP |