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.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.43094690_43095554del | CA2573154052 | BRCA1 | n.734+295_908del c.670+295_844del c.545-691_718del c.667+295_841del c.592+295_766del c.667+295_784+57del c.529+295_646+57del c.-218-691_-45del c.548-691_721del c.529+295_703del c.548-691_664+57del c.589+295_706+57del c.*678+295_*852del c.*544+295_*718del c.670+295_670+1159del (n.670+295_670+1159del) c.21+295_195del c.*453+295_*627del c.670+295_787+57del c.268-691_441del c.293-691_409+57del c.296-691_412+57del c.*606+295_*780del c.4+29631_4+30495del (n.4+29631_4+30495del) c.-43-21030_-43-20166del (n.-43-21030_-43-20166del) c.-99+29720_-99+30584del (n.-99+29720_-99+30584del) n.806+295_980del n.847+295_1021del | ClinVar dbSNP |
| 17 | g.43094853_43094854delinsAC | CA2260785338 | BRCA1 | n.741_742delinsGT c.677_678delinsGT (p.Cys226=) c.551_552delinsGT (p.Cys184=) c.674_675delinsGT (p.Cys225=) c.599_600delinsGT (p.Cys200=) c.536_537delinsGT (p.Cys179=) c.-212_-211delinsGT (n.-212_-211delinsGT) c.554_555delinsGT (p.Cys185=) c.596_597delinsGT (p.Cys199=) c.*685_*686delinsGT (n.*685_*686delinsGT) c.*551_*552delinsGT (n.*551_*552delinsGT) c.670+992_670+993delinsGT (n.670+992_670+993delinsGT) c.28_29delinsGT c.*460_*461delinsGT (n.*460_*461delinsGT) c.274_275delinsGT c.299_300delinsGT (p.Cys100=) c.302_303delinsGT (p.Cys101=) c.*613_*614delinsGT (n.*613_*614delinsGT) c.4+30328_4+30329delinsGT (n.4+30328_4+30329delinsGT) c.-43-20333_-43-20332delinsGT (n.-43-20333_-43-20332delinsGT) c.-99+30417_-99+30418delinsGT (n.-99+30417_-99+30418delinsGT) n.813_814delinsGT n.854_855delinsGT | |
| 17 | g.43094854del | CA919844540 | BRCA1 | n.741del c.677del (p.Cys226LeufsTer8) c.551del (p.Cys184LeufsTer8) c.674del (p.Cys225LeufsTer8) c.599del (p.Cys200LeufsTer8) c.536del (p.Cys179LeufsTer8) c.-212del (n.-212del) c.554del (p.Cys185LeufsTer8) c.596del (p.Cys199LeufsTer8) c.*685del (n.*685del) c.*551del (n.*551del) c.670+992del (n.670+992del) c.28del c.*460del (n.*460del) c.274del c.299del (p.Cys100LeufsTer8) c.302del (p.Cys101LeufsTer8) c.*613del (n.*613del) c.4+30328del (n.4+30328del) c.-43-20333del (n.-43-20333del) c.-99+30417del (n.-99+30417del) n.813del n.854del | dbSNP |
| 17 | g.43094854C>A | CA10600735 | BRCA1 | n.741G>T c.677G>T (p.Cys226Phe) c.551G>T (p.Cys184Phe) c.674G>T (p.Cys225Phe) c.599G>T (p.Cys200Phe) c.536G>T (p.Cys179Phe) c.-212G>T (n.-212G>T) c.554G>T (p.Cys185Phe) c.596G>T (p.Cys199Phe) c.*685G>T (n.*685G>T) c.*551G>T (n.*551G>T) c.670+992G>T (n.670+992G>T) c.28G>T c.*460G>T (n.*460G>T) c.274G>T c.299G>T (p.Cys100Phe) c.302G>T (p.Cys101Phe) c.*613G>T (n.*613G>T) c.4+30328G>T (n.4+30328G>T) c.-43-20333G>T (n.-43-20333G>T) c.-99+30417G>T (n.-99+30417G>T) n.813G>T n.854G>T | ClinVar dbSNP |
| 17 | g.43094854C= | CA2260785341 | BRCA1 | n.741G= c.677G= (p.Cys226=) c.551G= (p.Cys184=) c.674G= (p.Cys225=) c.599G= (p.Cys200=) c.536G= (p.Cys179=) c.-212G= (n.-212G=) c.554G= (p.Cys185=) c.596G= (p.Cys199=) c.*685G= (n.*685G=) c.*551G= (n.*551G=) c.670+992G= (n.670+992G=) c.28G= c.*460G= (n.*460G=) c.274G= c.299G= (p.Cys100=) c.302G= (p.Cys101=) c.*613G= (n.*613G=) c.4+30328G= (n.4+30328G=) c.-43-20333G= (n.-43-20333G=) c.-99+30417G= (n.-99+30417G=) n.813G= n.854G= | |
| 17 | g.43094854C>G | CA10600736 | BRCA1 | n.741G>C c.677G>C (p.Cys226Ser) c.551G>C (p.Cys184Ser) c.674G>C (p.Cys225Ser) c.599G>C (p.Cys200Ser) c.536G>C (p.Cys179Ser) c.-212G>C (n.-212G>C) c.554G>C (p.Cys185Ser) c.596G>C (p.Cys199Ser) c.*685G>C (n.*685G>C) c.*551G>C (n.*551G>C) c.670+992G>C (n.670+992G>C) c.28G>C c.*460G>C (n.*460G>C) c.274G>C c.299G>C (p.Cys100Ser) c.302G>C (p.Cys101Ser) c.*613G>C (n.*613G>C) c.4+30328G>C (n.4+30328G>C) c.-43-20333G>C (n.-43-20333G>C) c.-99+30417G>C (n.-99+30417G>C) n.813G>C n.854G>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094854C>T | CA10600737 | BRCA1 | n.741G>A c.677G>A (p.Cys226Tyr) c.551G>A (p.Cys184Tyr) c.674G>A (p.Cys225Tyr) c.599G>A (p.Cys200Tyr) c.536G>A (p.Cys179Tyr) c.-212G>A (n.-212G>A) c.554G>A (p.Cys185Tyr) c.596G>A (p.Cys199Tyr) c.*685G>A (n.*685G>A) c.*551G>A (n.*551G>A) c.670+992G>A (n.670+992G>A) c.28G>A c.*460G>A (n.*460G>A) c.274G>A c.299G>A (p.Cys100Tyr) c.302G>A (p.Cys101Tyr) c.*613G>A (n.*613G>A) c.4+30328G>A (n.4+30328G>A) c.-43-20333G>A (n.-43-20333G>A) c.-99+30417G>A (n.-99+30417G>A) n.813G>A n.854G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43094854_43094855delinsCA | CA2260785340 | BRCA1 | n.740_741delinsTG c.676_677delinsTG (p.Cys226=) c.550_551delinsTG (p.Cys184=) c.673_674delinsTG (p.Cys225=) c.598_599delinsTG (p.Cys200=) c.535_536delinsTG (p.Cys179=) c.-213_-212delinsTG (n.-213_-212delinsTG) c.553_554delinsTG (p.Cys185=) c.595_596delinsTG (p.Cys199=) c.*684_*685delinsTG (n.*684_*685delinsTG) c.*550_*551delinsTG (n.*550_*551delinsTG) c.670+991_670+992delinsTG (n.670+991_670+992delinsTG) c.27_28delinsTG c.*459_*460delinsTG (n.*459_*460delinsTG) c.273_274delinsTG c.298_299delinsTG (p.Cys100=) c.301_302delinsTG (p.Cys101=) c.*612_*613delinsTG (n.*612_*613delinsTG) c.4+30327_4+30328delinsTG (n.4+30327_4+30328delinsTG) c.-43-20334_-43-20333delinsTG (n.-43-20334_-43-20333delinsTG) c.-99+30416_-99+30417delinsTG (n.-99+30416_-99+30417delinsTG) n.812_813delinsTG n.853_854delinsTG | |
| 17 | g.43094855A>C | CA10600738 | BRCA1 | n.740T>G c.676T>G (p.Cys226Gly) c.550T>G (p.Cys184Gly) c.673T>G (p.Cys225Gly) c.598T>G (p.Cys200Gly) c.535T>G (p.Cys179Gly) c.-213T>G (n.-213T>G) c.553T>G (p.Cys185Gly) c.595T>G (p.Cys199Gly) c.*684T>G (n.*684T>G) c.*550T>G (n.*550T>G) c.670+991T>G (n.670+991T>G) c.27T>G c.*459T>G (n.*459T>G) c.273T>G c.298T>G (p.Cys100Gly) c.301T>G (p.Cys101Gly) c.*612T>G (n.*612T>G) c.4+30327T>G (n.4+30327T>G) c.-43-20334T>G (n.-43-20334T>G) c.-99+30416T>G (n.-99+30416T>G) n.812T>G n.853T>G | |
| 17 | g.43094855A>G | CA10600739 | BRCA1 | n.740T>C c.676T>C (p.Cys226Arg) c.550T>C (p.Cys184Arg) c.673T>C (p.Cys225Arg) c.598T>C (p.Cys200Arg) c.535T>C (p.Cys179Arg) c.-213T>C (n.-213T>C) c.553T>C (p.Cys185Arg) c.595T>C (p.Cys199Arg) c.*684T>C (n.*684T>C) c.*550T>C (n.*550T>C) c.670+991T>C (n.670+991T>C) c.27T>C c.*459T>C (n.*459T>C) c.273T>C c.298T>C (p.Cys100Arg) c.301T>C (p.Cys101Arg) c.*612T>C (n.*612T>C) c.4+30327T>C (n.4+30327T>C) c.-43-20334T>C (n.-43-20334T>C) c.-99+30416T>C (n.-99+30416T>C) n.812T>C n.853T>C | |
| 17 | g.43094855A>T | CA10600740 | BRCA1 | n.740T>A c.676T>A (p.Cys226Ser) c.550T>A (p.Cys184Ser) c.673T>A (p.Cys225Ser) c.598T>A (p.Cys200Ser) c.535T>A (p.Cys179Ser) c.-213T>A (n.-213T>A) c.553T>A (p.Cys185Ser) c.595T>A (p.Cys199Ser) c.*684T>A (n.*684T>A) c.*550T>A (n.*550T>A) c.670+991T>A (n.670+991T>A) c.27T>A c.*459T>A (n.*459T>A) c.273T>A c.298T>A (p.Cys100Ser) c.301T>A (p.Cys101Ser) c.*612T>A (n.*612T>A) c.4+30327T>A (n.4+30327T>A) c.-43-20334T>A (n.-43-20334T>A) c.-99+30416T>A (n.-99+30416T>A) n.812T>A n.853T>A | dbSNP |
| 17 | g.43094856del | CA003808 | BRCA1 | n.740del c.676del (p.Cys226ValfsTer8) c.550del (p.Cys184ValfsTer8) c.673del (p.Cys225ValfsTer8) c.598del (p.Cys200ValfsTer8) c.535del (p.Cys179ValfsTer8) c.-213del (n.-213del) c.553del (p.Cys185ValfsTer8) c.595del (p.Cys199ValfsTer8) c.*684del (n.*684del) c.*550del (n.*550del) c.670+991del (n.670+991del) c.27del c.*459del (n.*459del) c.273del c.298del (p.Cys100ValfsTer8) c.301del (p.Cys101ValfsTer8) c.*612del (n.*612del) c.4+30327del (n.4+30327del) c.-43-20334del (n.-43-20334del) c.-99+30416del (n.-99+30416del) n.812del n.853del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43094856A= | CA2260785342 | BRCA1 | n.739T= c.675T= (p.Ala225=) c.549T= (p.Ala183=) c.672T= (p.Ala224=) c.597T= (p.Ala199=) c.534T= (p.Ala178=) c.-214T= (n.-214T=) c.552T= (p.Ala184=) c.594T= (p.Ala198=) c.*683T= (n.*683T=) c.*549T= (n.*549T=) c.670+990T= (n.670+990T=) c.26T= c.*458T= (n.*458T=) c.272T= c.297T= (p.Ala99=) c.300T= (p.Ala100=) c.*611T= (n.*611T=) c.4+30326T= (n.4+30326T=) c.-43-20335T= (n.-43-20335T=) c.-99+30415T= (n.-99+30415T=) n.811T= n.852T= | |
| 17 | g.43094856A>C | CA500233709 | BRCA1 | n.739T>G c.675T>G (p.Ala225=) c.549T>G (p.Ala183=) c.672T>G (p.Ala224=) c.597T>G (p.Ala199=) c.534T>G (p.Ala178=) c.-214T>G (n.-214T>G) c.552T>G (p.Ala184=) c.594T>G (p.Ala198=) c.*683T>G (n.*683T>G) c.*549T>G (n.*549T>G) c.670+990T>G (n.670+990T>G) c.26T>G c.*458T>G (n.*458T>G) c.272T>G c.297T>G (p.Ala99=) c.300T>G (p.Ala100=) c.*611T>G (n.*611T>G) c.4+30326T>G (n.4+30326T>G) c.-43-20335T>G (n.-43-20335T>G) c.-99+30415T>G (n.-99+30415T>G) n.811T>G n.852T>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094856A>G | CA500233710 | BRCA1 | n.739T>C c.675T>C (p.Ala225=) c.549T>C (p.Ala183=) c.672T>C (p.Ala224=) c.597T>C (p.Ala199=) c.534T>C (p.Ala178=) c.-214T>C (n.-214T>C) c.552T>C (p.Ala184=) c.594T>C (p.Ala198=) c.*683T>C (n.*683T>C) c.*549T>C (n.*549T>C) c.670+990T>C (n.670+990T>C) c.26T>C c.*458T>C (n.*458T>C) c.272T>C c.297T>C (p.Ala99=) c.300T>C (p.Ala100=) c.*611T>C (n.*611T>C) c.4+30326T>C (n.4+30326T>C) c.-43-20335T>C (n.-43-20335T>C) c.-99+30415T>C (n.-99+30415T>C) n.811T>C n.852T>C | dbSNP |
| 17 | g.43094856A>T | CA500233712 | BRCA1 | n.739T>A c.675T>A (p.Ala225=) c.549T>A (p.Ala183=) c.672T>A (p.Ala224=) c.597T>A (p.Ala199=) c.534T>A (p.Ala178=) c.-214T>A (n.-214T>A) c.552T>A (p.Ala184=) c.594T>A (p.Ala198=) c.*683T>A (n.*683T>A) c.*549T>A (n.*549T>A) c.670+990T>A (n.670+990T>A) c.26T>A c.*458T>A (n.*458T>A) c.272T>A c.297T>A (p.Ala99=) c.300T>A (p.Ala100=) c.*611T>A (n.*611T>A) c.4+30326T>A (n.4+30326T>A) c.-43-20335T>A (n.-43-20335T>A) c.-99+30415T>A (n.-99+30415T>A) n.811T>A n.852T>A | dbSNP |
| 17 | g.43094857G>A | CA10600741 | BRCA1 | n.738C>T c.674C>T (p.Ala225Val) c.548C>T (p.Ala183Val) c.671C>T (p.Ala224Val) c.596C>T (p.Ala199Val) c.533C>T (p.Ala178Val) c.-215C>T (n.-215C>T) c.551C>T (p.Ala184Val) c.593C>T (p.Ala198Val) c.*682C>T (n.*682C>T) c.*548C>T (n.*548C>T) c.670+989C>T (n.670+989C>T) c.25C>T c.*457C>T (n.*457C>T) c.271C>T c.296C>T (p.Ala99Val) c.299C>T (p.Ala100Val) c.*610C>T (n.*610C>T) c.4+30325C>T (n.4+30325C>T) c.-43-20336C>T (n.-43-20336C>T) c.-99+30414C>T (n.-99+30414C>T) n.810C>T n.851C>T | dbSNP |
| 17 | g.43094857G>C | CA10600742 | BRCA1 | n.738C>G c.674C>G (p.Ala225Gly) c.548C>G (p.Ala183Gly) c.671C>G (p.Ala224Gly) c.596C>G (p.Ala199Gly) c.533C>G (p.Ala178Gly) c.-215C>G (n.-215C>G) c.551C>G (p.Ala184Gly) c.593C>G (p.Ala198Gly) c.*682C>G (n.*682C>G) c.*548C>G (n.*548C>G) c.670+989C>G (n.670+989C>G) c.25C>G c.*457C>G (n.*457C>G) c.271C>G c.296C>G (p.Ala99Gly) c.299C>G (p.Ala100Gly) c.*610C>G (n.*610C>G) c.4+30325C>G (n.4+30325C>G) c.-43-20336C>G (n.-43-20336C>G) c.-99+30414C>G (n.-99+30414C>G) n.810C>G n.851C>G | dbSNP |
| 17 | g.43094857G= | CA2260785343 | BRCA1 | n.738C= c.674C= (p.Ala225=) c.548C= (p.Ala183=) c.671C= (p.Ala224=) c.596C= (p.Ala199=) c.533C= (p.Ala178=) c.-215C= (n.-215C=) c.551C= (p.Ala184=) c.593C= (p.Ala198=) c.*682C= (n.*682C=) c.*548C= (n.*548C=) c.670+989C= (n.670+989C=) c.25C= c.*457C= (n.*457C=) c.271C= c.296C= (p.Ala99=) c.299C= (p.Ala100=) c.*610C= (n.*610C=) c.4+30325C= (n.4+30325C=) c.-43-20336C= (n.-43-20336C=) c.-99+30414C= (n.-99+30414C=) n.810C= n.851C= | |
| 17 | g.43094857G>T | CA10600743 | BRCA1 | n.738C>A c.674C>A (p.Ala225Asp) c.548C>A (p.Ala183Asp) c.671C>A (p.Ala224Asp) c.596C>A (p.Ala199Asp) c.533C>A (p.Ala178Asp) c.-215C>A (n.-215C>A) c.551C>A (p.Ala184Asp) c.593C>A (p.Ala198Asp) c.*682C>A (n.*682C>A) c.*548C>A (n.*548C>A) c.670+989C>A (n.670+989C>A) c.25C>A c.*457C>A (n.*457C>A) c.271C>A c.296C>A (p.Ala99Asp) c.299C>A (p.Ala100Asp) c.*610C>A (n.*610C>A) c.4+30325C>A (n.4+30325C>A) c.-43-20336C>A (n.-43-20336C>A) c.-99+30414C>A (n.-99+30414C>A) n.810C>A n.851C>A | dbSNP |
| 17 | g.43094858C>A | CA10600744 | BRCA1 | n.737G>T c.673G>T (p.Ala225Ser) c.547G>T (p.Ala183Ser) c.670G>T (p.Ala224Ser) c.595G>T (p.Ala199Ser) c.532G>T (p.Ala178Ser) c.-216G>T (n.-216G>T) c.550G>T (p.Ala184Ser) c.592G>T (p.Ala198Ser) c.*681G>T (n.*681G>T) c.*547G>T (n.*547G>T) c.670+988G>T (n.670+988G>T) c.24G>T c.*456G>T (n.*456G>T) c.270G>T c.295G>T (p.Ala99Ser) c.298G>T (p.Ala100Ser) c.*609G>T (n.*609G>T) c.4+30324G>T (n.4+30324G>T) c.-43-20337G>T (n.-43-20337G>T) c.-99+30413G>T (n.-99+30413G>T) n.809G>T n.850G>T | dbSNP |
| 17 | g.43094858C>G | CA10600745 | BRCA1 | n.737G>C c.673G>C (p.Ala225Pro) c.547G>C (p.Ala183Pro) c.670G>C (p.Ala224Pro) c.595G>C (p.Ala199Pro) c.532G>C (p.Ala178Pro) c.-216G>C (n.-216G>C) c.550G>C (p.Ala184Pro) c.592G>C (p.Ala198Pro) c.*681G>C (n.*681G>C) c.*547G>C (n.*547G>C) c.670+988G>C (n.670+988G>C) c.24G>C c.*456G>C (n.*456G>C) c.270G>C c.295G>C (p.Ala99Pro) c.298G>C (p.Ala100Pro) c.*609G>C (n.*609G>C) c.4+30324G>C (n.4+30324G>C) c.-43-20337G>C (n.-43-20337G>C) c.-99+30413G>C (n.-99+30413G>C) n.809G>C n.850G>C | dbSNP |
| 17 | g.43094858C>T | CA10600746 | BRCA1 | n.737G>A c.673G>A (p.Ala225Thr) c.547G>A (p.Ala183Thr) c.670G>A (p.Ala224Thr) c.595G>A (p.Ala199Thr) c.532G>A (p.Ala178Thr) c.-216G>A (n.-216G>A) c.550G>A (p.Ala184Thr) c.592G>A (p.Ala198Thr) c.*681G>A (n.*681G>A) c.*547G>A (n.*547G>A) c.670+988G>A (n.670+988G>A) c.24G>A c.*456G>A (n.*456G>A) c.270G>A c.295G>A (p.Ala99Thr) c.298G>A (p.Ala100Thr) c.*609G>A (n.*609G>A) c.4+30324G>A (n.4+30324G>A) c.-43-20337G>A (n.-43-20337G>A) c.-99+30413G>A (n.-99+30413G>A) n.809G>A n.850G>A | |
| 17 | g.43094859del | CA2499224588 | BRCA1 | n.736del c.672del (p.Ala225LeufsTer9) c.546del (p.Ala183LeufsTer9) c.669del (p.Ala224LeufsTer9) c.594del (p.Ala199LeufsTer9) c.531del (p.Ala178LeufsTer9) c.-217del (n.-217del) c.549del (p.Ala184LeufsTer9) c.591del (p.Ala198LeufsTer9) c.*680del (n.*680del) c.*546del (n.*546del) c.670+987del (n.670+987del) c.23del c.*455del (n.*455del) c.269del c.294del (p.Ala99LeufsTer9) c.297del (p.Ala100LeufsTer9) c.*608del (n.*608del) c.4+30323del (n.4+30323del) c.-43-20338del (n.-43-20338del) c.-99+30412del (n.-99+30412del) n.808del n.849del | ClinVar dbSNP |
| 17 | g.43094859A= | CA2260785344 | BRCA1 | n.736T= c.672T= (p.Ala224=) c.546T= (p.Ala182=) c.669T= (p.Ala223=) c.594T= (p.Ala198=) c.531T= (p.Ala177=) c.-217T= (n.-217T=) c.549T= (p.Ala183=) c.591T= (p.Ala197=) c.*680T= (n.*680T=) c.*546T= (n.*546T=) c.670+987T= (n.670+987T=) c.23T= c.*455T= (n.*455T=) c.269T= c.294T= (p.Ala98=) c.297T= (p.Ala99=) c.*608T= (n.*608T=) c.4+30323T= (n.4+30323T=) c.-43-20338T= (n.-43-20338T=) c.-99+30412T= (n.-99+30412T=) n.808T= n.849T= | |
| 17 | g.43094859A>C | CA16620444 | BRCA1 | n.736T>G c.672T>G (p.Ala224=) c.546T>G (p.Ala182=) c.669T>G (p.Ala223=) c.594T>G (p.Ala198=) c.531T>G (p.Ala177=) c.-217T>G (n.-217T>G) c.549T>G (p.Ala183=) c.591T>G (p.Ala197=) c.*680T>G (n.*680T>G) c.*546T>G (n.*546T>G) c.670+987T>G (n.670+987T>G) c.23T>G c.*455T>G (n.*455T>G) c.269T>G c.294T>G (p.Ala98=) c.297T>G (p.Ala99=) c.*608T>G (n.*608T>G) c.4+30323T>G (n.4+30323T>G) c.-43-20338T>G (n.-43-20338T>G) c.-99+30412T>G (n.-99+30412T>G) n.808T>G n.849T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43094859A>G | CA500233719 | BRCA1 | n.736T>C c.672T>C (p.Ala224=) c.546T>C (p.Ala182=) c.669T>C (p.Ala223=) c.594T>C (p.Ala198=) c.531T>C (p.Ala177=) c.-217T>C (n.-217T>C) c.549T>C (p.Ala183=) c.591T>C (p.Ala197=) c.*680T>C (n.*680T>C) c.*546T>C (n.*546T>C) c.670+987T>C (n.670+987T>C) c.23T>C c.*455T>C (n.*455T>C) c.269T>C c.294T>C (p.Ala98=) c.297T>C (p.Ala99=) c.*608T>C (n.*608T>C) c.4+30323T>C (n.4+30323T>C) c.-43-20338T>C (n.-43-20338T>C) c.-99+30412T>C (n.-99+30412T>C) n.808T>C n.849T>C | |
| 17 | g.43094859A>T | CA500233720 | BRCA1 | n.736T>A c.672T>A (p.Ala224=) c.546T>A (p.Ala182=) c.669T>A (p.Ala223=) c.594T>A (p.Ala198=) c.531T>A (p.Ala177=) c.-217T>A (n.-217T>A) c.549T>A (p.Ala183=) c.591T>A (p.Ala197=) c.*680T>A (n.*680T>A) c.*546T>A (n.*546T>A) c.670+987T>A (n.670+987T>A) c.23T>A c.*455T>A (n.*455T>A) c.269T>A c.294T>A (p.Ala98=) c.297T>A (p.Ala99=) c.*608T>A (n.*608T>A) c.4+30323T>A (n.4+30323T>A) c.-43-20338T>A (n.-43-20338T>A) c.-99+30412T>A (n.-99+30412T>A) n.808T>A n.849T>A | |
| 17 | g.43094860G>A | CA10600747 | BRCA1 | n.735C>T c.671C>T (p.Ala224Val) c.545C>T (p.Ala182Val) c.668C>T (p.Ala223Val) c.593C>T (p.Ala198Val) c.530C>T (p.Ala177Val) c.-218C>T (n.-218C>T) c.548C>T (p.Ala183Val) c.590C>T (p.Ala197Val) c.*679C>T (n.*679C>T) c.*545C>T (n.*545C>T) c.670+986C>T (n.670+986C>T) c.22C>T c.*454C>T (n.*454C>T) c.268C>T c.293C>T (p.Ala98Val) c.296C>T (p.Ala99Val) c.*607C>T (n.*607C>T) c.4+30322C>T (n.4+30322C>T) c.-43-20339C>T (n.-43-20339C>T) c.-99+30411C>T (n.-99+30411C>T) n.807C>T n.848C>T | ClinVar dbSNP |
| 17 | g.43094860G>C | CA10600748 | BRCA1 | n.735C>G c.671C>G (p.Ala224Gly) c.545C>G (p.Ala182Gly) c.668C>G (p.Ala223Gly) c.593C>G (p.Ala198Gly) c.530C>G (p.Ala177Gly) c.-218C>G (n.-218C>G) c.548C>G (p.Ala183Gly) c.590C>G (p.Ala197Gly) c.*679C>G (n.*679C>G) c.*545C>G (n.*545C>G) c.670+986C>G (n.670+986C>G) c.22C>G c.*454C>G (n.*454C>G) c.268C>G c.293C>G (p.Ala98Gly) c.296C>G (p.Ala99Gly) c.*607C>G (n.*607C>G) c.4+30322C>G (n.4+30322C>G) c.-43-20339C>G (n.-43-20339C>G) c.-99+30411C>G (n.-99+30411C>G) n.807C>G n.848C>G | dbSNP |
| 17 | g.43094860G= | CA2260785345 | BRCA1 | n.735C= c.671C= (p.Ala224=) c.545C= (p.Ala182=) c.668C= (p.Ala223=) c.593C= (p.Ala198=) c.530C= (p.Ala177=) c.-218C= (n.-218C=) c.548C= (p.Ala183=) c.590C= (p.Ala197=) c.*679C= (n.*679C=) c.*545C= (n.*545C=) c.670+986C= (n.670+986C=) c.22C= c.*454C= (n.*454C=) c.268C= c.293C= (p.Ala98=) c.296C= (p.Ala99=) c.*607C= (n.*607C=) c.4+30322C= (n.4+30322C=) c.-43-20339C= (n.-43-20339C=) c.-99+30411C= (n.-99+30411C=) n.807C= n.848C= | |
| 17 | g.43094860G>T | CA10600749 | BRCA1 | n.735C>A c.671C>A (p.Ala224Asp) c.545C>A (p.Ala182Asp) c.668C>A (p.Ala223Asp) c.593C>A (p.Ala198Asp) c.530C>A (p.Ala177Asp) c.-218C>A (n.-218C>A) c.548C>A (p.Ala183Asp) c.590C>A (p.Ala197Asp) c.*679C>A (n.*679C>A) c.*545C>A (n.*545C>A) c.670+986C>A (n.670+986C>A) c.22C>A c.*454C>A (n.*454C>A) c.268C>A c.293C>A (p.Ala98Asp) c.296C>A (p.Ala99Asp) c.*607C>A (n.*607C>A) c.4+30322C>A (n.4+30322C>A) c.-43-20339C>A (n.-43-20339C>A) c.-99+30411C>A (n.-99+30411C>A) n.807C>A n.848C>A | |
| 17 | g.43094861C>A | CA003805 | BRCA1 | n.735-1G>T c.671-1G>T (n.671-1G>T) c.545-1G>T (n.545-1G>T) c.668-1G>T (n.668-1G>T) c.593-1G>T (n.593-1G>T) c.530-1G>T (n.530-1G>T) c.-218-1G>T (n.-218-1G>T) c.548-1G>T (n.548-1G>T) c.590-1G>T (n.590-1G>T) c.*679-1G>T (n.*679-1G>T) c.*545-1G>T (n.*545-1G>T) c.670+985G>T (n.670+985G>T) c.22-1G>T c.*454-1G>T (n.*454-1G>T) c.268-1G>T c.293-1G>T (n.293-1G>T) c.296-1G>T (n.296-1G>T) c.*607-1G>T (n.*607-1G>T) c.4+30321G>T (n.4+30321G>T) c.-43-20340G>T (n.-43-20340G>T) c.-99+30410G>T (n.-99+30410G>T) n.807-1G>T n.848-1G>T | ClinVar dbSNP |
| 17 | g.43094861C= | CA2260785346 | BRCA1 | n.735-1G= c.671-1G= (n.671-1G=) c.545-1G= (n.545-1G=) c.668-1G= (n.668-1G=) c.593-1G= (n.593-1G=) c.530-1G= (n.530-1G=) c.-218-1G= (n.-218-1G=) c.548-1G= (n.548-1G=) c.590-1G= (n.590-1G=) c.*679-1G= (n.*679-1G=) c.*545-1G= (n.*545-1G=) c.670+985G= (n.670+985G=) c.22-1G= c.*454-1G= (n.*454-1G=) c.268-1G= c.293-1G= (n.293-1G=) c.296-1G= (n.296-1G=) c.*607-1G= (n.*607-1G=) c.4+30321G= (n.4+30321G=) c.-43-20340G= (n.-43-20340G=) c.-99+30410G= (n.-99+30410G=) n.807-1G= n.848-1G= | |
| 17 | g.43094861C>G | CA003804 | BRCA1 | n.735-1G>C c.671-1G>C (n.671-1G>C) c.545-1G>C (n.545-1G>C) c.668-1G>C (n.668-1G>C) c.593-1G>C (n.593-1G>C) c.530-1G>C (n.530-1G>C) c.-218-1G>C (n.-218-1G>C) c.548-1G>C (n.548-1G>C) c.590-1G>C (n.590-1G>C) c.*679-1G>C (n.*679-1G>C) c.*545-1G>C (n.*545-1G>C) c.670+985G>C (n.670+985G>C) c.22-1G>C c.*454-1G>C (n.*454-1G>C) c.268-1G>C c.293-1G>C (n.293-1G>C) c.296-1G>C (n.296-1G>C) c.*607-1G>C (n.*607-1G>C) c.4+30321G>C (n.4+30321G>C) c.-43-20340G>C (n.-43-20340G>C) c.-99+30410G>C (n.-99+30410G>C) n.807-1G>C n.848-1G>C | ClinVar dbSNP |
| 17 | g.43094861C>T | CA003803 | BRCA1 | n.735-1G>A c.671-1G>A (n.671-1G>A) c.545-1G>A (n.545-1G>A) c.668-1G>A (n.668-1G>A) c.593-1G>A (n.593-1G>A) c.530-1G>A (n.530-1G>A) c.-218-1G>A (n.-218-1G>A) c.548-1G>A (n.548-1G>A) c.590-1G>A (n.590-1G>A) c.*679-1G>A (n.*679-1G>A) c.*545-1G>A (n.*545-1G>A) c.670+985G>A (n.670+985G>A) c.22-1G>A c.*454-1G>A (n.*454-1G>A) c.268-1G>A c.293-1G>A (n.293-1G>A) c.296-1G>A (n.296-1G>A) c.*607-1G>A (n.*607-1G>A) c.4+30321G>A (n.4+30321G>A) c.-43-20340G>A (n.-43-20340G>A) c.-99+30410G>A (n.-99+30410G>A) n.807-1G>A n.848-1G>A | ClinVar dbSNP |
| 17 | g.43094861_43094862insCTTTTTTGCAGAATCCAAACTGATTTCATCCCTGGTTCCT | CA2638064084 | BRCA1 | n.735-2_735-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG c.671-2_671-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.671-2_671-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.545-2_545-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.545-2_545-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.668-2_668-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.668-2_668-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.593-2_593-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.593-2_593-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.530-2_530-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.530-2_530-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.-218-2_-218-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.-218-2_-218-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.548-2_548-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.548-2_548-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.590-2_590-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.590-2_590-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.*679-2_*679-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.*679-2_*679-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.*545-2_*545-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.*545-2_*545-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.670+984_670+985insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.670+984_670+985insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.22-2_22-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG c.*454-2_*454-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.*454-2_*454-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.268-2_268-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG c.293-2_293-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.293-2_293-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.296-2_296-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.296-2_296-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.*607-2_*607-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.*607-2_*607-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.4+30320_4+30321insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.4+30320_4+30321insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.-43-20341_-43-20340insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.-43-20341_-43-20340insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) c.-99+30409_-99+30410insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG (n.-99+30409_-99+30410insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG) n.807-2_807-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG n.848-2_848-1insAGGAACCAGGGATGAAATCAGTTTGGATTCTGCAAAAAAG | gnomAD v4 |
| 17 | g.43094862T>A | CA10600750 | BRCA1 | n.735-2A>T c.671-2A>T (n.671-2A>T) c.545-2A>T (n.545-2A>T) c.668-2A>T (n.668-2A>T) c.593-2A>T (n.593-2A>T) c.530-2A>T (n.530-2A>T) c.-218-2A>T (n.-218-2A>T) c.548-2A>T (n.548-2A>T) c.590-2A>T (n.590-2A>T) c.*679-2A>T (n.*679-2A>T) c.*545-2A>T (n.*545-2A>T) c.670+984A>T (n.670+984A>T) c.22-2A>T c.*454-2A>T (n.*454-2A>T) c.268-2A>T c.293-2A>T (n.293-2A>T) c.296-2A>T (n.296-2A>T) c.*607-2A>T (n.*607-2A>T) c.4+30320A>T (n.4+30320A>T) c.-43-20341A>T (n.-43-20341A>T) c.-99+30409A>T (n.-99+30409A>T) n.807-2A>T n.848-2A>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094862T>C | CA10600751 | BRCA1 | n.735-2A>G c.671-2A>G (n.671-2A>G) c.545-2A>G (n.545-2A>G) c.668-2A>G (n.668-2A>G) c.593-2A>G (n.593-2A>G) c.530-2A>G (n.530-2A>G) c.-218-2A>G (n.-218-2A>G) c.548-2A>G (n.548-2A>G) c.590-2A>G (n.590-2A>G) c.*679-2A>G (n.*679-2A>G) c.*545-2A>G (n.*545-2A>G) c.670+984A>G (n.670+984A>G) c.22-2A>G c.*454-2A>G (n.*454-2A>G) c.268-2A>G c.293-2A>G (n.293-2A>G) c.296-2A>G (n.296-2A>G) c.*607-2A>G (n.*607-2A>G) c.4+30320A>G (n.4+30320A>G) c.-43-20341A>G (n.-43-20341A>G) c.-99+30409A>G (n.-99+30409A>G) n.807-2A>G n.848-2A>G | ClinVar dbSNP |