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.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.43093751_43094887del | CA10602596 | BRCA1 | n.735-26_1845del c.671-26_1781del c.545-26_1655del c.668-26_1778del c.593-26_1703del c.668-26_784+994del c.530-26_646+994del c.-218-26_893del c.548-26_1658del c.530-26_1640del c.548-26_664+994del c.590-26_706+994del c.670+960_670+2096del (n.670+960_670+2096del) c.22-26_1132del c.*454-26_*1564del c.671-26_787+994del c.293-26_409+994del c.296-26_412+994del c.4+30296_5-29799del (n.4+30296_5-29799del) c.-43-20365_-43-19229del (n.-43-20365_-43-19229del) c.-99+30385_-99+31521del (n.-99+30385_-99+31521del) n.807-26_1917del n.848-26_1958del | ClinVar |
| 17 | g.43093881_43094860dup | CA2580618106 | BRCA1 | n.735_1714dup c.671_1650dup (p.Ser551LeufsTer10) c.545_1524dup (p.Ser509LeufsTer10) c.668_1647dup (p.Ser550LeufsTer10) c.593_1572dup (p.Ser525LeufsTer10) c.668_784+863dup c.530_646+863dup c.-218_762dup (p.Ser255LeufsTer10) c.548_1527dup (p.Ser510LeufsTer10) c.530_1509dup (p.Ser504LeufsTer10) c.548_664+863dup c.590_706+863dup c.670+986_670+1965dup (n.670+986_670+1965dup) c.22_1001dup c.*454_*1433dup (n.*454_*1433dup) c.671_787+863dup c.293_409+863dup c.296_412+863dup c.4+30322_5-29930dup (n.4+30322_5-29930dup) c.-43-20339_-43-19360dup (n.-43-20339_-43-19360dup) c.-99+30411_-99+31390dup (n.-99+30411_-99+31390dup) n.807_1786dup n.848_1827dup | |
| 17 | g.43094513_43094886del | CA1139664799 | BRCA1 | n.735-26_1082del c.671-26_1018del c.545-26_892del c.668-26_1015del c.593-26_940del c.668-26_784+231del c.530-26_646+231del c.-218-26_130del c.548-26_895del c.530-26_877del c.548-26_664+231del c.590-26_706+231del c.*679-26_*1026del c.*545-26_*892del c.670+960_670+1333del (n.670+960_670+1333del) c.22-26_369del c.*454-26_*801del c.671-26_787+231del c.268-26_615del c.293-26_409+231del c.296-26_412+231del c.*607-26_*954del c.4+30296_5-30562del (n.4+30296_5-30562del) c.-43-20365_-43-19992del (n.-43-20365_-43-19992del) c.-99+30385_-99+30758del (n.-99+30385_-99+30758del) n.807-26_1154del n.848-26_1195del | ClinVar |
| 17 | g.43094557_43101117del | CA16043351 | BRCA1 | n.506-1235_1040del c.442-1235_976del c.442-1238_850del c.442-1238_973del c.364-1235_898del c.442-1238_784+189del c.301-1235_646+189del c.-218-6255_88del c.442-1235_853del c.301-1235_835del c.442-1235_664+189del c.364-1238_706+189del c.*356-1235_*984del c.*316-1235_*850del c.442-1235_670+1291del c.*228-1238_*759del c.442-1235_787+189del c.165-1238_573del c.190-1238_409+189del c.190-1235_412+189del c.*378-1235_*912del c.4+24067_5-30604del (n.4+24067_5-30604del) c.-44+24156_-43-20034del (n.-44+24156_-43-20034del) c.-99+24156_-99+30716del (n.-99+24156_-99+30716del) n.581-1238_1112del n.622-1238_1153del | ClinVar |
| 17 | g.43094629_43095075delinsTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGTACTCAAAAACTGAATTGTCATTAAAAAAATACATACTTCATACACCTTGGAGGTGGAAATCAACCAACTGGCTATATTAGAGAAACTAACCTCATAAACTACCAAGTATACTGAAGATGTAGCTCATACTCTTTCATTTAATTCCTATTTACCTAGATTATTTCCACTTAGGATCCATTAAATTTTTAA | CA2260785126 | BRCA1 | n.735-215_966delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.671-215_902delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.545-215_776delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.668-215_899delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.593-215_824delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.668-215_784+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.530-215_646+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.-218-215_14delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.548-215_779delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.530-215_761delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.548-215_664+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.590-215_706+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*679-215_*910delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*545-215_*776delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.670+771_670+1217delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.670+771_670+1217delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) c.22-215_253delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*454-215_*685delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.671-215_787+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.268-215_499delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.293-215_409+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.296-215_412+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*607-215_*838delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.4+30107_4+30553delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.4+30107_4+30553delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) c.-43-20554_-43-20108delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.-43-20554_-43-20108delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) c.-99+30196_-99+30642delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.-99+30196_-99+30642delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) n.807-215_1038delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA n.848-215_1079delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA | |
| 17 | g.43094634_43095079del | CA10602598 | BRCA1 | n.735-215_965del c.671-215_901del c.545-215_775del c.668-215_898del c.593-215_823del c.668-215_784+114del c.530-215_646+114del c.-218-215_13del c.548-215_778del c.530-215_760del c.548-215_664+114del c.590-215_706+114del c.*679-215_*909del c.*545-215_*775del c.670+771_670+1216del (n.670+771_670+1216del) c.22-215_252del c.*454-215_*684del c.671-215_787+114del c.268-215_498del c.293-215_409+114del c.296-215_412+114del c.*607-215_*837del c.4+30107_4+30552del (n.4+30107_4+30552del) c.-43-20554_-43-20109del (n.-43-20554_-43-20109del) c.-99+30196_-99+30641del (n.-99+30196_-99+30641del) n.807-215_1037del n.848-215_1078del | ClinVar dbSNP |
| 17 | g.43094651_43094683delinsTAGTGAGTAATAAACTGCTGTTCTCATGCTGTA | CA2260785153 | BRCA1 | n.912_944delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA c.848_880delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu283=) c.722_754delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu241=) c.845_877delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu282=) c.770_802delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu257=) c.784+61_784+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.784+61_784+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.646+61_646+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.646+61_646+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.-41_-9delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.-41_-9delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.725_757delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu242=) c.707_739delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (p.Leu236=) c.664+61_664+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.664+61_664+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.706+61_706+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.706+61_706+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.*856_*888delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.*856_*888delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.*722_*754delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.*722_*754delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.670+1163_670+1195delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.670+1163_670+1195delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.199_231delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA c.*631_*663delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.*631_*663delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.787+61_787+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.445_477delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA c.409+61_409+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.409+61_409+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.412+61_412+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.412+61_412+93delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.*784_*816delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.*784_*816delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.4+30499_4+30531delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.4+30499_4+30531delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.-43-20162_-43-20130delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.-43-20162_-43-20130delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) c.-99+30588_-99+30620delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA (n.-99+30588_-99+30620delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA) n.984_1016delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA n.1025_1057delinsTACAGCATGAGAACAGCAGTTTATTACTCACTA | |
| 17 | g.43094653_43094684del | CA10588656 | BRCA1 | n.912_943del c.848_879del (p.Leu283Ter) c.722_753del (p.Leu241Ter) c.845_876del (p.Leu282Ter) c.770_801del (p.Leu257Ter) c.784+61_784+92del (n.784+61_784+92del) c.646+61_646+92del (n.646+61_646+92del) c.-41_-10del (n.-41_-10del) c.725_756del (p.Leu242Ter) c.707_738del (p.Leu236Ter) c.664+61_664+92del (n.664+61_664+92del) c.706+61_706+92del (n.706+61_706+92del) c.*856_*887del (n.*856_*887del) c.*722_*753del (n.*722_*753del) c.670+1163_670+1194del (n.670+1163_670+1194del) c.199_230del c.*631_*662del (n.*631_*662del) c.787+61_787+92del (n.787+61_787+92del) c.445_476del c.409+61_409+92del (n.409+61_409+92del) c.412+61_412+92del (n.412+61_412+92del) c.*784_*815del (n.*784_*815del) c.4+30499_4+30530del (n.4+30499_4+30530del) c.-43-20162_-43-20131del (n.-43-20162_-43-20131del) c.-99+30588_-99+30619del (n.-99+30588_-99+30619del) n.984_1015del n.1025_1056del | ClinVar dbSNP |
| 17 | g.43094678_43094680delinsGCT | CA2260785177 | BRCA1 | n.915_917delinsAGC c.851_853delinsAGC (p.Gln284=) c.725_727delinsAGC (p.Gln242=) c.848_850delinsAGC (p.Gln283=) c.773_775delinsAGC (p.Gln258=) c.784+64_784+66delinsAGC (n.784+64_784+66delinsAGC) c.646+64_646+66delinsAGC (n.646+64_646+66delinsAGC) c.-38_-36delinsAGC (n.-38_-36delinsAGC) c.728_730delinsAGC (p.Gln243=) c.710_712delinsAGC (p.Gln237=) c.664+64_664+66delinsAGC (n.664+64_664+66delinsAGC) c.706+64_706+66delinsAGC (n.706+64_706+66delinsAGC) c.*859_*861delinsAGC (n.*859_*861delinsAGC) c.*725_*727delinsAGC (n.*725_*727delinsAGC) c.670+1166_670+1168delinsAGC (n.670+1166_670+1168delinsAGC) c.202_204delinsAGC c.*634_*636delinsAGC (n.*634_*636delinsAGC) c.787+64_787+66delinsAGC (n.787+64_787+66delinsAGC) c.448_450delinsAGC c.409+64_409+66delinsAGC (n.409+64_409+66delinsAGC) c.412+64_412+66delinsAGC (n.412+64_412+66delinsAGC) c.*787_*789delinsAGC (n.*787_*789delinsAGC) c.4+30502_4+30504delinsAGC (n.4+30502_4+30504delinsAGC) c.-43-20159_-43-20157delinsAGC (n.-43-20159_-43-20157delinsAGC) c.-99+30591_-99+30593delinsAGC (n.-99+30591_-99+30593delinsAGC) n.987_989delinsAGC n.1028_1030delinsAGC | |
| 17 | g.43094679C>A | CA10600380 | BRCA1 | n.916G>T c.852G>T (p.Gln284His) c.726G>T (p.Gln242His) c.849G>T (p.Gln283His) c.774G>T (p.Gln258His) c.784+65G>T (n.784+65G>T) c.646+65G>T (n.646+65G>T) c.-37G>T (n.-37G>T) c.729G>T (p.Gln243His) c.711G>T (p.Gln237His) c.664+65G>T (n.664+65G>T) c.706+65G>T (n.706+65G>T) c.*860G>T (n.*860G>T) c.*726G>T (n.*726G>T) c.670+1167G>T (n.670+1167G>T) c.203G>T c.*635G>T (n.*635G>T) c.787+65G>T (n.787+65G>T) c.449G>T c.409+65G>T (n.409+65G>T) c.412+65G>T (n.412+65G>T) c.*788G>T (n.*788G>T) c.4+30503G>T (n.4+30503G>T) c.-43-20158G>T (n.-43-20158G>T) c.-99+30592G>T (n.-99+30592G>T) n.988G>T n.1029G>T | dbSNP |
| 17 | g.43094679C= | CA2260785178 | BRCA1 | n.916G= c.852G= (p.Gln284=) c.726G= (p.Gln242=) c.849G= (p.Gln283=) c.774G= (p.Gln258=) c.784+65G= (n.784+65G=) c.646+65G= (n.646+65G=) c.-37G= (n.-37G=) c.729G= (p.Gln243=) c.711G= (p.Gln237=) c.664+65G= (n.664+65G=) c.706+65G= (n.706+65G=) c.*860G= (n.*860G=) c.*726G= (n.*726G=) c.670+1167G= (n.670+1167G=) c.203G= c.*635G= (n.*635G=) c.787+65G= (n.787+65G=) c.449G= c.409+65G= (n.409+65G=) c.412+65G= (n.412+65G=) c.*788G= (n.*788G=) c.4+30503G= (n.4+30503G=) c.-43-20158G= (n.-43-20158G=) c.-99+30592G= (n.-99+30592G=) n.988G= n.1029G= | |
| 17 | g.43094679C>G | CA10600381 | BRCA1 | n.916G>C c.852G>C (p.Gln284His) c.726G>C (p.Gln242His) c.849G>C (p.Gln283His) c.774G>C (p.Gln258His) c.784+65G>C (n.784+65G>C) c.646+65G>C (n.646+65G>C) c.-37G>C (n.-37G>C) c.729G>C (p.Gln243His) c.711G>C (p.Gln237His) c.664+65G>C (n.664+65G>C) c.706+65G>C (n.706+65G>C) c.*860G>C (n.*860G>C) c.*726G>C (n.*726G>C) c.670+1167G>C (n.670+1167G>C) c.203G>C c.*635G>C (n.*635G>C) c.787+65G>C (n.787+65G>C) c.449G>C c.409+65G>C (n.409+65G>C) c.412+65G>C (n.412+65G>C) c.*788G>C (n.*788G>C) c.4+30503G>C (n.4+30503G>C) c.-43-20158G>C (n.-43-20158G>C) c.-99+30592G>C (n.-99+30592G>C) n.988G>C n.1029G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094679C>T | CA500233364 | BRCA1 | n.916G>A c.852G>A (p.Gln284=) c.726G>A (p.Gln242=) c.849G>A (p.Gln283=) c.774G>A (p.Gln258=) c.784+65G>A (n.784+65G>A) c.646+65G>A (n.646+65G>A) c.-37G>A (n.-37G>A) c.729G>A (p.Gln243=) c.711G>A (p.Gln237=) c.664+65G>A (n.664+65G>A) c.706+65G>A (n.706+65G>A) c.*860G>A (n.*860G>A) c.*726G>A (n.*726G>A) c.670+1167G>A (n.670+1167G>A) c.203G>A c.*635G>A (n.*635G>A) c.787+65G>A (n.787+65G>A) c.449G>A c.409+65G>A (n.409+65G>A) c.412+65G>A (n.412+65G>A) c.*788G>A (n.*788G>A) c.4+30503G>A (n.4+30503G>A) c.-43-20158G>A (n.-43-20158G>A) c.-99+30592G>A (n.-99+30592G>A) n.988G>A n.1029G>A | dbSNP |
| 17 | g.43094679_43094680del | CA003941 | BRCA1 | n.915_916del c.851_852del (p.Gln284ProfsTer2) c.725_726del (p.Gln242ProfsTer2) c.848_849del (p.Gln283ProfsTer2) c.773_774del (p.Gln258ProfsTer2) c.784+64_784+65del (n.784+64_784+65del) c.646+64_646+65del (n.646+64_646+65del) c.-38_-37del (n.-38_-37del) c.728_729del (p.Gln243ProfsTer2) c.710_711del (p.Gln237ProfsTer2) c.664+64_664+65del (n.664+64_664+65del) c.706+64_706+65del (n.706+64_706+65del) c.*859_*860del (n.*859_*860del) c.*725_*726del (n.*725_*726del) c.670+1166_670+1167del (n.670+1166_670+1167del) c.202_203del c.*634_*635del (n.*634_*635del) c.787+64_787+65del (n.787+64_787+65del) c.448_449del c.409+64_409+65del (n.409+64_409+65del) c.412+64_412+65del (n.412+64_412+65del) c.*787_*788del (n.*787_*788del) c.4+30502_4+30503del (n.4+30502_4+30503del) c.-43-20159_-43-20158del (n.-43-20159_-43-20158del) c.-99+30591_-99+30592del (n.-99+30591_-99+30592del) n.987_988del n.1028_1029del | ClinVar dbSNP |
| 17 | g.43094680del | CA2499224578 | BRCA1 | n.915del c.851del (p.Gln284ArgfsTer14) c.725del (p.Gln242ArgfsTer14) c.848del (p.Gln283ArgfsTer14) c.773del (p.Gln258ArgfsTer14) c.784+64del (n.784+64del) c.646+64del (n.646+64del) c.-38del (n.-38del) c.728del (p.Gln243ArgfsTer14) c.710del (p.Gln237ArgfsTer14) c.664+64del (n.664+64del) c.706+64del (n.706+64del) c.*859del (n.*859del) c.*725del (n.*725del) c.670+1166del (n.670+1166del) c.202del c.*634del (n.*634del) c.787+64del (n.787+64del) c.448del c.409+64del (n.409+64del) c.412+64del (n.412+64del) c.*787del (n.*787del) c.4+30502del (n.4+30502del) c.-43-20159del (n.-43-20159del) c.-99+30591del (n.-99+30591del) n.987del n.1028del | ClinVar dbSNP |
| 17 | g.43094680T>A | CA10600382 | BRCA1 | n.915A>T c.851A>T (p.Gln284Leu) c.725A>T (p.Gln242Leu) c.848A>T (p.Gln283Leu) c.773A>T (p.Gln258Leu) c.784+64A>T (n.784+64A>T) c.646+64A>T (n.646+64A>T) c.-38A>T (n.-38A>T) c.728A>T (p.Gln243Leu) c.710A>T (p.Gln237Leu) c.664+64A>T (n.664+64A>T) c.706+64A>T (n.706+64A>T) c.*859A>T (n.*859A>T) c.*725A>T (n.*725A>T) c.670+1166A>T (n.670+1166A>T) c.202A>T c.*634A>T (n.*634A>T) c.787+64A>T (n.787+64A>T) c.448A>T c.409+64A>T (n.409+64A>T) c.412+64A>T (n.412+64A>T) c.*787A>T (n.*787A>T) c.4+30502A>T (n.4+30502A>T) c.-43-20159A>T (n.-43-20159A>T) c.-99+30591A>T (n.-99+30591A>T) n.987A>T n.1028A>T | dbSNP |
| 17 | g.43094680T>C | CA003942 | BRCA1 | n.915A>G c.851A>G (p.Gln284Arg) c.725A>G (p.Gln242Arg) c.848A>G (p.Gln283Arg) c.773A>G (p.Gln258Arg) c.784+64A>G (n.784+64A>G) c.646+64A>G (n.646+64A>G) c.-38A>G (n.-38A>G) c.728A>G (p.Gln243Arg) c.710A>G (p.Gln237Arg) c.664+64A>G (n.664+64A>G) c.706+64A>G (n.706+64A>G) c.*859A>G (n.*859A>G) c.*725A>G (n.*725A>G) c.670+1166A>G (n.670+1166A>G) c.202A>G c.*634A>G (n.*634A>G) c.787+64A>G (n.787+64A>G) c.448A>G c.409+64A>G (n.409+64A>G) c.412+64A>G (n.412+64A>G) c.*787A>G (n.*787A>G) c.4+30502A>G (n.4+30502A>G) c.-43-20159A>G (n.-43-20159A>G) c.-99+30591A>G (n.-99+30591A>G) n.987A>G n.1028A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094680T>G | CA10600383 | BRCA1 | n.915A>C c.851A>C (p.Gln284Pro) c.725A>C (p.Gln242Pro) c.848A>C (p.Gln283Pro) c.773A>C (p.Gln258Pro) c.784+64A>C (n.784+64A>C) c.646+64A>C (n.646+64A>C) c.-38A>C (n.-38A>C) c.728A>C (p.Gln243Pro) c.710A>C (p.Gln237Pro) c.664+64A>C (n.664+64A>C) c.706+64A>C (n.706+64A>C) c.*859A>C (n.*859A>C) c.*725A>C (n.*725A>C) c.670+1166A>C (n.670+1166A>C) c.202A>C c.*634A>C (n.*634A>C) c.787+64A>C (n.787+64A>C) c.448A>C c.409+64A>C (n.409+64A>C) c.412+64A>C (n.412+64A>C) c.*787A>C (n.*787A>C) c.4+30502A>C (n.4+30502A>C) c.-43-20159A>C (n.-43-20159A>C) c.-99+30591A>C (n.-99+30591A>C) n.987A>C n.1028A>C | |
| 17 | g.43094680T= | CA2260785179 | BRCA1 | n.915A= c.851A= (p.Gln284=) c.725A= (p.Gln242=) c.848A= (p.Gln283=) c.773A= (p.Gln258=) c.784+64A= (n.784+64A=) c.646+64A= (n.646+64A=) c.-38A= (n.-38A=) c.728A= (p.Gln243=) c.710A= (p.Gln237=) c.664+64A= (n.664+64A=) c.706+64A= (n.706+64A=) c.*859A= (n.*859A=) c.*725A= (n.*725A=) c.670+1166A= (n.670+1166A=) c.202A= c.*634A= (n.*634A=) c.787+64A= (n.787+64A=) c.448A= c.409+64A= (n.409+64A=) c.412+64A= (n.412+64A=) c.*787A= (n.*787A=) c.4+30502A= (n.4+30502A=) c.-43-20159A= (n.-43-20159A=) c.-99+30591A= (n.-99+30591A=) n.987A= n.1028A= | |
| 17 | g.43094681del | CA2573054448 | BRCA1 | n.914del c.850del (p.Gln284SerfsTer14) c.724del (p.Gln242SerfsTer14) c.847del (p.Gln283SerfsTer14) c.772del (p.Gln258SerfsTer14) c.784+63del (n.784+63del) c.646+63del (n.646+63del) c.-39del (n.-39del) c.727del (p.Gln243SerfsTer14) c.709del (p.Gln237SerfsTer14) c.664+63del (n.664+63del) c.706+63del (n.706+63del) c.*858del (n.*858del) c.*724del (n.*724del) c.670+1165del (n.670+1165del) c.201del c.*633del (n.*633del) c.787+63del (n.787+63del) c.447del c.409+63del (n.409+63del) c.412+63del (n.412+63del) c.*786del (n.*786del) c.4+30501del (n.4+30501del) c.-43-20160del (n.-43-20160del) c.-99+30590del (n.-99+30590del) n.986del n.1027del | ClinVar dbSNP |
| 17 | g.43094681G>A | CA003940 | BRCA1 | n.914C>T c.850C>T (p.Gln284Ter) c.724C>T (p.Gln242Ter) c.847C>T (p.Gln283Ter) c.772C>T (p.Gln258Ter) c.784+63C>T (n.784+63C>T) c.646+63C>T (n.646+63C>T) c.-39C>T (n.-39C>T) c.727C>T (p.Gln243Ter) c.709C>T (p.Gln237Ter) c.664+63C>T (n.664+63C>T) c.706+63C>T (n.706+63C>T) c.*858C>T (n.*858C>T) c.*724C>T (n.*724C>T) c.670+1165C>T (n.670+1165C>T) c.201C>T c.*633C>T (n.*633C>T) c.787+63C>T (n.787+63C>T) c.447C>T c.409+63C>T (n.409+63C>T) c.412+63C>T (n.412+63C>T) c.*786C>T (n.*786C>T) c.4+30501C>T (n.4+30501C>T) c.-43-20160C>T (n.-43-20160C>T) c.-99+30590C>T (n.-99+30590C>T) n.986C>T n.1027C>T | ClinVar dbSNP |
| 17 | g.43094681G>C | CA10600384 | BRCA1 | n.914C>G c.850C>G (p.Gln284Glu) c.724C>G (p.Gln242Glu) c.847C>G (p.Gln283Glu) c.772C>G (p.Gln258Glu) c.784+63C>G (n.784+63C>G) c.646+63C>G (n.646+63C>G) c.-39C>G (n.-39C>G) c.727C>G (p.Gln243Glu) c.709C>G (p.Gln237Glu) c.664+63C>G (n.664+63C>G) c.706+63C>G (n.706+63C>G) c.*858C>G (n.*858C>G) c.*724C>G (n.*724C>G) c.670+1165C>G (n.670+1165C>G) c.201C>G c.*633C>G (n.*633C>G) c.787+63C>G (n.787+63C>G) c.447C>G c.409+63C>G (n.409+63C>G) c.412+63C>G (n.412+63C>G) c.*786C>G (n.*786C>G) c.4+30501C>G (n.4+30501C>G) c.-43-20160C>G (n.-43-20160C>G) c.-99+30590C>G (n.-99+30590C>G) n.986C>G n.1027C>G | dbSNP |
| 17 | g.43094681G= | CA2260785180 | BRCA1 | n.914C= c.850C= (p.Gln284=) c.724C= (p.Gln242=) c.847C= (p.Gln283=) c.772C= (p.Gln258=) c.784+63C= (n.784+63C=) c.646+63C= (n.646+63C=) c.-39C= (n.-39C=) c.727C= (p.Gln243=) c.709C= (p.Gln237=) c.664+63C= (n.664+63C=) c.706+63C= (n.706+63C=) c.*858C= (n.*858C=) c.*724C= (n.*724C=) c.670+1165C= (n.670+1165C=) c.201C= c.*633C= (n.*633C=) c.787+63C= (n.787+63C=) c.447C= c.409+63C= (n.409+63C=) c.412+63C= (n.412+63C=) c.*786C= (n.*786C=) c.4+30501C= (n.4+30501C=) c.-43-20160C= (n.-43-20160C=) c.-99+30590C= (n.-99+30590C=) n.986C= n.1027C= | |
| 17 | g.43094681G>T | CA10600385 | BRCA1 | n.914C>A c.850C>A (p.Gln284Lys) c.724C>A (p.Gln242Lys) c.847C>A (p.Gln283Lys) c.772C>A (p.Gln258Lys) c.784+63C>A (n.784+63C>A) c.646+63C>A (n.646+63C>A) c.-39C>A (n.-39C>A) c.727C>A (p.Gln243Lys) c.709C>A (p.Gln237Lys) c.664+63C>A (n.664+63C>A) c.706+63C>A (n.706+63C>A) c.*858C>A (n.*858C>A) c.*724C>A (n.*724C>A) c.670+1165C>A (n.670+1165C>A) c.201C>A c.*633C>A (n.*633C>A) c.787+63C>A (n.787+63C>A) c.447C>A c.409+63C>A (n.409+63C>A) c.412+63C>A (n.412+63C>A) c.*786C>A (n.*786C>A) c.4+30501C>A (n.4+30501C>A) c.-43-20160C>A (n.-43-20160C>A) c.-99+30590C>A (n.-99+30590C>A) n.986C>A n.1027C>A | |
| 17 | g.43094681_43094683delinsCTT | CA2697554279 | BRCA1 | n.912_914delinsAAG c.848_850delinsAAG (p.Leu283Ter) c.722_724delinsAAG (p.Leu241Ter) c.845_847delinsAAG (p.Leu282Ter) c.770_772delinsAAG (p.Leu257Ter) c.784+61_784+63delinsAAG (n.784+61_784+63delinsAAG) c.646+61_646+63delinsAAG (n.646+61_646+63delinsAAG) c.-41_-39delinsAAG (n.-41_-39delinsAAG) c.725_727delinsAAG (p.Leu242Ter) c.707_709delinsAAG (p.Leu236Ter) c.664+61_664+63delinsAAG (n.664+61_664+63delinsAAG) c.706+61_706+63delinsAAG (n.706+61_706+63delinsAAG) c.*856_*858delinsAAG (n.*856_*858delinsAAG) c.*722_*724delinsAAG (n.*722_*724delinsAAG) c.670+1163_670+1165delinsAAG (n.670+1163_670+1165delinsAAG) c.199_201delinsAAG c.*631_*633delinsAAG (n.*631_*633delinsAAG) c.787+61_787+63delinsAAG (n.787+61_787+63delinsAAG) c.445_447delinsAAG c.409+61_409+63delinsAAG (n.409+61_409+63delinsAAG) c.412+61_412+63delinsAAG (n.412+61_412+63delinsAAG) c.*784_*786delinsAAG (n.*784_*786delinsAAG) c.4+30499_4+30501delinsAAG (n.4+30499_4+30501delinsAAG) c.-43-20162_-43-20160delinsAAG (n.-43-20162_-43-20160delinsAAG) c.-99+30588_-99+30590delinsAAG (n.-99+30588_-99+30590delinsAAG) n.984_986delinsAAG n.1025_1027delinsAAG | ClinVar |
| 17 | g.43094682_43094688dup | CA003939 | BRCA1 | n.908_914dup c.844_850dup (p.Gln284LeufsTer5) c.718_724dup (p.Gln242LeufsTer5) c.841_847dup (p.Gln283LeufsTer5) c.766_772dup (p.Gln258LeufsTer5) c.784+57_784+63dup (n.784+57_784+63dup) c.646+57_646+63dup (n.646+57_646+63dup) c.-45_-39dup (n.-45_-39dup) c.721_727dup (p.Gln243LeufsTer5) c.703_709dup (p.Gln237LeufsTer5) c.664+57_664+63dup (n.664+57_664+63dup) c.706+57_706+63dup (n.706+57_706+63dup) c.*852_*858dup (n.*852_*858dup) c.*718_*724dup (n.*718_*724dup) c.670+1159_670+1165dup (n.670+1159_670+1165dup) c.195_201dup c.*627_*633dup (n.*627_*633dup) c.787+57_787+63dup (n.787+57_787+63dup) c.441_447dup c.409+57_409+63dup (n.409+57_409+63dup) c.412+57_412+63dup (n.412+57_412+63dup) c.*780_*786dup (n.*780_*786dup) c.4+30495_4+30501dup (n.4+30495_4+30501dup) c.-43-20166_-43-20160dup (n.-43-20166_-43-20160dup) c.-99+30584_-99+30590dup (n.-99+30584_-99+30590dup) n.980_986dup n.1021_1027dup | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094682T>A | CA10600386 | BRCA1 | n.913A>T c.849A>T (p.Leu283Phe) c.723A>T (p.Leu241Phe) c.846A>T (p.Leu282Phe) c.771A>T (p.Leu257Phe) c.784+62A>T (n.784+62A>T) c.646+62A>T (n.646+62A>T) c.-40A>T (n.-40A>T) c.726A>T (p.Leu242Phe) c.708A>T (p.Leu236Phe) c.664+62A>T (n.664+62A>T) c.706+62A>T (n.706+62A>T) c.*857A>T (n.*857A>T) c.*723A>T (n.*723A>T) c.670+1164A>T (n.670+1164A>T) c.200A>T c.*632A>T (n.*632A>T) c.787+62A>T (n.787+62A>T) c.446A>T c.409+62A>T (n.409+62A>T) c.412+62A>T (n.412+62A>T) c.*785A>T (n.*785A>T) c.4+30500A>T (n.4+30500A>T) c.-43-20161A>T (n.-43-20161A>T) c.-99+30589A>T (n.-99+30589A>T) n.985A>T n.1026A>T | |
| 17 | g.43094682T>C | CA500233366 | BRCA1 | n.913A>G c.849A>G (p.Leu283=) c.723A>G (p.Leu241=) c.846A>G (p.Leu282=) c.771A>G (p.Leu257=) c.784+62A>G (n.784+62A>G) c.646+62A>G (n.646+62A>G) c.-40A>G (n.-40A>G) c.726A>G (p.Leu242=) c.708A>G (p.Leu236=) c.664+62A>G (n.664+62A>G) c.706+62A>G (n.706+62A>G) c.*857A>G (n.*857A>G) c.*723A>G (n.*723A>G) c.670+1164A>G (n.670+1164A>G) c.200A>G c.*632A>G (n.*632A>G) c.787+62A>G (n.787+62A>G) c.446A>G c.409+62A>G (n.409+62A>G) c.412+62A>G (n.412+62A>G) c.*785A>G (n.*785A>G) c.4+30500A>G (n.4+30500A>G) c.-43-20161A>G (n.-43-20161A>G) c.-99+30589A>G (n.-99+30589A>G) n.985A>G n.1026A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094682T>G | CA10600387 | BRCA1 | n.913A>C c.849A>C (p.Leu283Phe) c.723A>C (p.Leu241Phe) c.846A>C (p.Leu282Phe) c.771A>C (p.Leu257Phe) c.784+62A>C (n.784+62A>C) c.646+62A>C (n.646+62A>C) c.-40A>C (n.-40A>C) c.726A>C (p.Leu242Phe) c.708A>C (p.Leu236Phe) c.664+62A>C (n.664+62A>C) c.706+62A>C (n.706+62A>C) c.*857A>C (n.*857A>C) c.*723A>C (n.*723A>C) c.670+1164A>C (n.670+1164A>C) c.200A>C c.*632A>C (n.*632A>C) c.787+62A>C (n.787+62A>C) c.446A>C c.409+62A>C (n.409+62A>C) c.412+62A>C (n.412+62A>C) c.*785A>C (n.*785A>C) c.4+30500A>C (n.4+30500A>C) c.-43-20161A>C (n.-43-20161A>C) c.-99+30589A>C (n.-99+30589A>C) n.985A>C n.1026A>C | |
| 17 | g.43094682T= | CA2260785181 | BRCA1 | n.913A= c.849A= (p.Leu283=) c.723A= (p.Leu241=) c.846A= (p.Leu282=) c.771A= (p.Leu257=) c.784+62A= (n.784+62A=) c.646+62A= (n.646+62A=) c.-40A= (n.-40A=) c.726A= (p.Leu242=) c.708A= (p.Leu236=) c.664+62A= (n.664+62A=) c.706+62A= (n.706+62A=) c.*857A= (n.*857A=) c.*723A= (n.*723A=) c.670+1164A= (n.670+1164A=) c.200A= c.*632A= (n.*632A=) c.787+62A= (n.787+62A=) c.446A= c.409+62A= (n.409+62A=) c.412+62A= (n.412+62A=) c.*785A= (n.*785A=) c.4+30500A= (n.4+30500A=) c.-43-20161A= (n.-43-20161A=) c.-99+30589A= (n.-99+30589A=) n.985A= n.1026A= | |
| 17 | g.43094682dup | CA658684121 | BRCA1 | n.913dup c.849dup (p.Gln284ThrfsTer3) c.723dup (p.Gln242ThrfsTer3) c.846dup (p.Gln283ThrfsTer3) c.771dup (p.Gln258ThrfsTer3) c.784+62dup (n.784+62dup) c.646+62dup (n.646+62dup) c.-40dup (n.-40dup) c.726dup (p.Gln243ThrfsTer3) c.708dup (p.Gln237ThrfsTer3) c.664+62dup (n.664+62dup) c.706+62dup (n.706+62dup) c.*857dup (n.*857dup) c.*723dup (n.*723dup) c.670+1164dup (n.670+1164dup) c.200dup c.*632dup (n.*632dup) c.787+62dup (n.787+62dup) c.446dup c.409+62dup (n.409+62dup) c.412+62dup (n.412+62dup) c.*785dup (n.*785dup) c.4+30500dup (n.4+30500dup) c.-43-20161dup (n.-43-20161dup) c.-99+30589dup (n.-99+30589dup) n.985dup n.1026dup | ClinVar dbSNP |
| 17 | g.43094683A= | CA2260785183 | BRCA1 | n.912T= c.848T= (p.Leu283=) c.722T= (p.Leu241=) c.845T= (p.Leu282=) c.770T= (p.Leu257=) c.784+61T= (n.784+61T=) c.646+61T= (n.646+61T=) c.-41T= (n.-41T=) c.725T= (p.Leu242=) c.707T= (p.Leu236=) c.664+61T= (n.664+61T=) c.706+61T= (n.706+61T=) c.*856T= (n.*856T=) c.*722T= (n.*722T=) c.670+1163T= (n.670+1163T=) c.199T= c.*631T= (n.*631T=) c.787+61T= (n.787+61T=) c.445T= c.409+61T= (n.409+61T=) c.412+61T= (n.412+61T=) c.*784T= (n.*784T=) c.4+30499T= (n.4+30499T=) c.-43-20162T= (n.-43-20162T=) c.-99+30588T= (n.-99+30588T=) n.984T= n.1025T= | |
| 17 | g.43094683A>C | CA003938 | BRCA1 | n.912T>G c.848T>G (p.Leu283Ter) c.722T>G (p.Leu241Ter) c.845T>G (p.Leu282Ter) c.770T>G (p.Leu257Ter) c.784+61T>G (n.784+61T>G) c.646+61T>G (n.646+61T>G) c.-41T>G (n.-41T>G) c.725T>G (p.Leu242Ter) c.707T>G (p.Leu236Ter) c.664+61T>G (n.664+61T>G) c.706+61T>G (n.706+61T>G) c.*856T>G (n.*856T>G) c.*722T>G (n.*722T>G) c.670+1163T>G (n.670+1163T>G) c.199T>G c.*631T>G (n.*631T>G) c.787+61T>G (n.787+61T>G) c.445T>G c.409+61T>G (n.409+61T>G) c.412+61T>G (n.412+61T>G) c.*784T>G (n.*784T>G) c.4+30499T>G (n.4+30499T>G) c.-43-20162T>G (n.-43-20162T>G) c.-99+30588T>G (n.-99+30588T>G) n.984T>G n.1025T>G | ClinVar dbSNP |
| 17 | g.43094683A>G | CA10600388 | BRCA1 | n.912T>C c.848T>C (p.Leu283Ser) c.722T>C (p.Leu241Ser) c.845T>C (p.Leu282Ser) c.770T>C (p.Leu257Ser) c.784+61T>C (n.784+61T>C) c.646+61T>C (n.646+61T>C) c.-41T>C (n.-41T>C) c.725T>C (p.Leu242Ser) c.707T>C (p.Leu236Ser) c.664+61T>C (n.664+61T>C) c.706+61T>C (n.706+61T>C) c.*856T>C (n.*856T>C) c.*722T>C (n.*722T>C) c.670+1163T>C (n.670+1163T>C) c.199T>C c.*631T>C (n.*631T>C) c.787+61T>C (n.787+61T>C) c.445T>C c.409+61T>C (n.409+61T>C) c.412+61T>C (n.412+61T>C) c.*784T>C (n.*784T>C) c.4+30499T>C (n.4+30499T>C) c.-43-20162T>C (n.-43-20162T>C) c.-99+30588T>C (n.-99+30588T>C) n.984T>C n.1025T>C | ClinVar dbSNP |
| 17 | g.43094683A>T | CA003937 | BRCA1 | n.912T>A c.848T>A (p.Leu283Ter) c.722T>A (p.Leu241Ter) c.845T>A (p.Leu282Ter) c.770T>A (p.Leu257Ter) c.784+61T>A (n.784+61T>A) c.646+61T>A (n.646+61T>A) c.-41T>A (n.-41T>A) c.725T>A (p.Leu242Ter) c.707T>A (p.Leu236Ter) c.664+61T>A (n.664+61T>A) c.706+61T>A (n.706+61T>A) c.*856T>A (n.*856T>A) c.*722T>A (n.*722T>A) c.670+1163T>A (n.670+1163T>A) c.199T>A c.*631T>A (n.*631T>A) c.787+61T>A (n.787+61T>A) c.445T>A c.409+61T>A (n.409+61T>A) c.412+61T>A (n.412+61T>A) c.*784T>A (n.*784T>A) c.4+30499T>A (n.4+30499T>A) c.-43-20162T>A (n.-43-20162T>A) c.-99+30588T>A (n.-99+30588T>A) n.984T>A n.1025T>A | ClinVar dbSNP |
| 17 | g.43094684dup | CA1139664804 | BRCA1 | n.912dup c.848dup (p.Leu283PhefsTer4) c.722dup (p.Leu241PhefsTer4) c.845dup (p.Leu282PhefsTer4) c.770dup (p.Leu257PhefsTer4) c.784+61dup (n.784+61dup) c.646+61dup (n.646+61dup) c.-41dup (n.-41dup) c.725dup (p.Leu242PhefsTer4) c.707dup (p.Leu236PhefsTer4) c.664+61dup (n.664+61dup) c.706+61dup (n.706+61dup) c.*856dup (n.*856dup) c.*722dup (n.*722dup) c.670+1163dup (n.670+1163dup) c.199dup c.*631dup (n.*631dup) c.787+61dup (n.787+61dup) c.445dup c.409+61dup (n.409+61dup) c.412+61dup (n.412+61dup) c.*784dup (n.*784dup) c.4+30499dup (n.4+30499dup) c.-43-20162dup (n.-43-20162dup) c.-99+30588dup (n.-99+30588dup) n.984dup n.1025dup | ClinVar dbSNP |
| 17 | g.43094683_43094693delinsAATGAGCTGGC | CA2260785182 | BRCA1 | n.902_912delinsGCCAGCTCATT c.838_848delinsGCCAGCTCATT (p.Ala280=) c.712_722delinsGCCAGCTCATT (p.Ala238=) c.835_845delinsGCCAGCTCATT (p.Ala279=) c.760_770delinsGCCAGCTCATT (p.Ala254=) c.784+51_784+61delinsGCCAGCTCATT (n.784+51_784+61delinsGCCAGCTCATT) c.646+51_646+61delinsGCCAGCTCATT (n.646+51_646+61delinsGCCAGCTCATT) c.-51_-41delinsGCCAGCTCATT (n.-51_-41delinsGCCAGCTCATT) c.715_725delinsGCCAGCTCATT (p.Ala239=) c.697_707delinsGCCAGCTCATT (p.Ala233=) c.664+51_664+61delinsGCCAGCTCATT (n.664+51_664+61delinsGCCAGCTCATT) c.706+51_706+61delinsGCCAGCTCATT (n.706+51_706+61delinsGCCAGCTCATT) c.*846_*856delinsGCCAGCTCATT (n.*846_*856delinsGCCAGCTCATT) c.*712_*722delinsGCCAGCTCATT (n.*712_*722delinsGCCAGCTCATT) c.670+1153_670+1163delinsGCCAGCTCATT (n.670+1153_670+1163delinsGCCAGCTCATT) c.189_199delinsGCCAGCTCATT c.*621_*631delinsGCCAGCTCATT (n.*621_*631delinsGCCAGCTCATT) c.787+51_787+61delinsGCCAGCTCATT (n.787+51_787+61delinsGCCAGCTCATT) c.435_445delinsGCCAGCTCATT c.409+51_409+61delinsGCCAGCTCATT (n.409+51_409+61delinsGCCAGCTCATT) c.412+51_412+61delinsGCCAGCTCATT (n.412+51_412+61delinsGCCAGCTCATT) c.*774_*784delinsGCCAGCTCATT (n.*774_*784delinsGCCAGCTCATT) c.4+30489_4+30499delinsGCCAGCTCATT (n.4+30489_4+30499delinsGCCAGCTCATT) c.-43-20172_-43-20162delinsGCCAGCTCATT (n.-43-20172_-43-20162delinsGCCAGCTCATT) c.-99+30578_-99+30588delinsGCCAGCTCATT (n.-99+30578_-99+30588delinsGCCAGCTCATT) n.974_984delinsGCCAGCTCATT n.1015_1025delinsGCCAGCTCATT | |
| 17 | g.43094684A>C | CA10600389 | BRCA1 | n.911T>G c.847T>G (p.Leu283Val) c.721T>G (p.Leu241Val) c.844T>G (p.Leu282Val) c.769T>G (p.Leu257Val) c.784+60T>G (n.784+60T>G) c.646+60T>G (n.646+60T>G) c.-42T>G (n.-42T>G) c.724T>G (p.Leu242Val) c.706T>G (p.Leu236Val) c.664+60T>G (n.664+60T>G) c.706+60T>G (n.706+60T>G) c.*855T>G (n.*855T>G) c.*721T>G (n.*721T>G) c.670+1162T>G (n.670+1162T>G) c.198T>G c.*630T>G (n.*630T>G) c.787+60T>G (n.787+60T>G) c.444T>G c.409+60T>G (n.409+60T>G) c.412+60T>G (n.412+60T>G) c.*783T>G (n.*783T>G) c.4+30498T>G (n.4+30498T>G) c.-43-20163T>G (n.-43-20163T>G) c.-99+30587T>G (n.-99+30587T>G) n.983T>G n.1024T>G | dbSNP |
| 17 | g.43094684A>G | CA500233368 | BRCA1 | n.911T>C c.847T>C (p.Leu283=) c.721T>C (p.Leu241=) c.844T>C (p.Leu282=) c.769T>C (p.Leu257=) c.784+60T>C (n.784+60T>C) c.646+60T>C (n.646+60T>C) c.-42T>C (n.-42T>C) c.724T>C (p.Leu242=) c.706T>C (p.Leu236=) c.664+60T>C (n.664+60T>C) c.706+60T>C (n.706+60T>C) c.*855T>C (n.*855T>C) c.*721T>C (n.*721T>C) c.670+1162T>C (n.670+1162T>C) c.198T>C c.*630T>C (n.*630T>C) c.787+60T>C (n.787+60T>C) c.444T>C c.409+60T>C (n.409+60T>C) c.412+60T>C (n.412+60T>C) c.*783T>C (n.*783T>C) c.4+30498T>C (n.4+30498T>C) c.-43-20163T>C (n.-43-20163T>C) c.-99+30587T>C (n.-99+30587T>C) n.983T>C n.1024T>C | dbSNP |
| 17 | g.43094684A>T | CA10600390 | BRCA1 | n.911T>A c.847T>A (p.Leu283Ile) c.721T>A (p.Leu241Ile) c.844T>A (p.Leu282Ile) c.769T>A (p.Leu257Ile) c.784+60T>A (n.784+60T>A) c.646+60T>A (n.646+60T>A) c.-42T>A (n.-42T>A) c.724T>A (p.Leu242Ile) c.706T>A (p.Leu236Ile) c.664+60T>A (n.664+60T>A) c.706+60T>A (n.706+60T>A) c.*855T>A (n.*855T>A) c.*721T>A (n.*721T>A) c.670+1162T>A (n.670+1162T>A) c.198T>A c.*630T>A (n.*630T>A) c.787+60T>A (n.787+60T>A) c.444T>A c.409+60T>A (n.409+60T>A) c.412+60T>A (n.412+60T>A) c.*783T>A (n.*783T>A) c.4+30498T>A (n.4+30498T>A) c.-43-20163T>A (n.-43-20163T>A) c.-99+30587T>A (n.-99+30587T>A) n.983T>A n.1024T>A | dbSNP |
| 17 | g.43094684_43094688delinsATGAG | CA2260785184 | BRCA1 | n.907_911delinsCTCAT c.843_847delinsCTCAT (p.Ser281=) c.717_721delinsCTCAT (p.Ser239=) c.840_844delinsCTCAT (p.Ser280=) c.765_769delinsCTCAT (p.Ser255=) c.784+56_784+60delinsCTCAT (n.784+56_784+60delinsCTCAT) c.646+56_646+60delinsCTCAT (n.646+56_646+60delinsCTCAT) c.-46_-42delinsCTCAT (n.-46_-42delinsCTCAT) c.720_724delinsCTCAT (p.Ser240=) c.702_706delinsCTCAT (p.Ser234=) c.664+56_664+60delinsCTCAT (n.664+56_664+60delinsCTCAT) c.706+56_706+60delinsCTCAT (n.706+56_706+60delinsCTCAT) c.*851_*855delinsCTCAT (n.*851_*855delinsCTCAT) c.*717_*721delinsCTCAT (n.*717_*721delinsCTCAT) c.670+1158_670+1162delinsCTCAT (n.670+1158_670+1162delinsCTCAT) c.194_198delinsCTCAT c.*626_*630delinsCTCAT (n.*626_*630delinsCTCAT) c.787+56_787+60delinsCTCAT (n.787+56_787+60delinsCTCAT) c.440_444delinsCTCAT c.409+56_409+60delinsCTCAT (n.409+56_409+60delinsCTCAT) c.412+56_412+60delinsCTCAT (n.412+56_412+60delinsCTCAT) c.*779_*783delinsCTCAT (n.*779_*783delinsCTCAT) c.4+30494_4+30498delinsCTCAT (n.4+30494_4+30498delinsCTCAT) c.-43-20167_-43-20163delinsCTCAT (n.-43-20167_-43-20163delinsCTCAT) c.-99+30583_-99+30587delinsCTCAT (n.-99+30583_-99+30587delinsCTCAT) n.979_983delinsCTCAT n.1020_1024delinsCTCAT | |
| 17 | g.43094689_43094698del | CA1139664805 | BRCA1 | n.902_911del c.838_847del (p.Ala280TyrfsTer15) c.712_721del (p.Ala238TyrfsTer15) c.835_844del (p.Ala279TyrfsTer15) c.760_769del (p.Ala254TyrfsTer15) c.784+51_784+60del (n.784+51_784+60del) c.646+51_646+60del (n.646+51_646+60del) c.-51_-42del (n.-51_-42del) c.715_724del (p.Ala239TyrfsTer15) c.697_706del (p.Ala233TyrfsTer15) c.664+51_664+60del (n.664+51_664+60del) c.706+51_706+60del (n.706+51_706+60del) c.*846_*855del (n.*846_*855del) c.*712_*721del (n.*712_*721del) c.670+1153_670+1162del (n.670+1153_670+1162del) c.189_198del c.*621_*630del (n.*621_*630del) c.787+51_787+60del (n.787+51_787+60del) c.435_444del c.409+51_409+60del (n.409+51_409+60del) c.412+51_412+60del (n.412+51_412+60del) c.*774_*783del (n.*774_*783del) c.4+30489_4+30498del (n.4+30489_4+30498del) c.-43-20172_-43-20163del (n.-43-20172_-43-20163del) c.-99+30578_-99+30587del (n.-99+30578_-99+30587del) n.974_983del n.1015_1024del | ClinVar dbSNP |
| 17 | g.43094685T>A | CA500233369 | BRCA1 | n.910A>T c.846A>T (p.Ser282=) c.720A>T (p.Ser240=) c.843A>T (p.Ser281=) c.768A>T (p.Ser256=) c.784+59A>T (n.784+59A>T) c.646+59A>T (n.646+59A>T) c.-43A>T (n.-43A>T) c.723A>T (p.Ser241=) c.705A>T (p.Ser235=) c.664+59A>T (n.664+59A>T) c.706+59A>T (n.706+59A>T) c.*854A>T (n.*854A>T) c.*720A>T (n.*720A>T) c.670+1161A>T (n.670+1161A>T) c.197A>T c.*629A>T (n.*629A>T) c.787+59A>T (n.787+59A>T) c.443A>T c.409+59A>T (n.409+59A>T) c.412+59A>T (n.412+59A>T) c.*782A>T (n.*782A>T) c.4+30497A>T (n.4+30497A>T) c.-43-20164A>T (n.-43-20164A>T) c.-99+30586A>T (n.-99+30586A>T) n.982A>T n.1023A>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43094685T>C | CA500233370 | BRCA1 | n.910A>G c.846A>G (p.Ser282=) c.720A>G (p.Ser240=) c.843A>G (p.Ser281=) c.768A>G (p.Ser256=) c.784+59A>G (n.784+59A>G) c.646+59A>G (n.646+59A>G) c.-43A>G (n.-43A>G) c.723A>G (p.Ser241=) c.705A>G (p.Ser235=) c.664+59A>G (n.664+59A>G) c.706+59A>G (n.706+59A>G) c.*854A>G (n.*854A>G) c.*720A>G (n.*720A>G) c.670+1161A>G (n.670+1161A>G) c.197A>G c.*629A>G (n.*629A>G) c.787+59A>G (n.787+59A>G) c.443A>G c.409+59A>G (n.409+59A>G) c.412+59A>G (n.412+59A>G) c.*782A>G (n.*782A>G) c.4+30497A>G (n.4+30497A>G) c.-43-20164A>G (n.-43-20164A>G) c.-99+30586A>G (n.-99+30586A>G) n.982A>G n.1023A>G |