WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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.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.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 |
| 17 | g.43094862T>G | CA003806 | BRCA1 | n.735-2A>C c.671-2A>C (n.671-2A>C) c.545-2A>C (n.545-2A>C) c.668-2A>C (n.668-2A>C) c.593-2A>C (n.593-2A>C) c.530-2A>C (n.530-2A>C) c.-218-2A>C (n.-218-2A>C) c.548-2A>C (n.548-2A>C) c.590-2A>C (n.590-2A>C) c.*679-2A>C (n.*679-2A>C) c.*545-2A>C (n.*545-2A>C) c.670+984A>C (n.670+984A>C) c.22-2A>C c.*454-2A>C (n.*454-2A>C) c.268-2A>C c.293-2A>C (n.293-2A>C) c.296-2A>C (n.296-2A>C) c.*607-2A>C (n.*607-2A>C) c.4+30320A>C (n.4+30320A>C) c.-43-20341A>C (n.-43-20341A>C) c.-99+30409A>C (n.-99+30409A>C) n.807-2A>C n.848-2A>C | ClinVar dbSNP ExAC gnomAD v4 |
| 17 | g.43094862T= | CA2260785347 | BRCA1 | n.735-2A= c.671-2A= (n.671-2A=) c.545-2A= (n.545-2A=) c.668-2A= (n.668-2A=) c.593-2A= (n.593-2A=) c.530-2A= (n.530-2A=) c.-218-2A= (n.-218-2A=) c.548-2A= (n.548-2A=) c.590-2A= (n.590-2A=) c.*679-2A= (n.*679-2A=) c.*545-2A= (n.*545-2A=) c.670+984A= (n.670+984A=) c.22-2A= c.*454-2A= (n.*454-2A=) c.268-2A= c.293-2A= (n.293-2A=) c.296-2A= (n.296-2A=) c.*607-2A= (n.*607-2A=) c.4+30320A= (n.4+30320A=) c.-43-20341A= (n.-43-20341A=) c.-99+30409A= (n.-99+30409A=) n.807-2A= n.848-2A= | |
| 17 | g.43094862_43094868del | CA2499224589 | BRCA1 | n.735-8_735-2del c.671-8_671-2del (n.671-8_671-2del) c.545-8_545-2del (n.545-8_545-2del) c.668-8_668-2del (n.668-8_668-2del) c.593-8_593-2del (n.593-8_593-2del) c.530-8_530-2del (n.530-8_530-2del) c.-218-8_-218-2del (n.-218-8_-218-2del) c.548-8_548-2del (n.548-8_548-2del) c.590-8_590-2del (n.590-8_590-2del) c.*679-8_*679-2del (n.*679-8_*679-2del) c.*545-8_*545-2del (n.*545-8_*545-2del) c.670+978_670+984del (n.670+978_670+984del) c.22-8_22-2del c.*454-8_*454-2del (n.*454-8_*454-2del) c.268-8_268-2del c.293-8_293-2del (n.293-8_293-2del) c.296-8_296-2del (n.296-8_296-2del) c.*607-8_*607-2del (n.*607-8_*607-2del) c.4+30314_4+30320del (n.4+30314_4+30320del) c.-43-20347_-43-20341del (n.-43-20347_-43-20341del) c.-99+30403_-99+30409del (n.-99+30403_-99+30409del) n.807-8_807-2del n.848-8_848-2del | ClinVar dbSNP |
| 17 | g.43094863G>A | CA2581463405 | BRCA1 | n.735-3C>T c.671-3C>T (n.671-3C>T) c.545-3C>T (n.545-3C>T) c.668-3C>T (n.668-3C>T) c.593-3C>T (n.593-3C>T) c.530-3C>T (n.530-3C>T) c.-218-3C>T (n.-218-3C>T) c.548-3C>T (n.548-3C>T) c.590-3C>T (n.590-3C>T) c.*679-3C>T (n.*679-3C>T) c.*545-3C>T (n.*545-3C>T) c.670+983C>T (n.670+983C>T) c.22-3C>T c.*454-3C>T (n.*454-3C>T) c.268-3C>T c.293-3C>T (n.293-3C>T) c.296-3C>T (n.296-3C>T) c.*607-3C>T (n.*607-3C>T) c.4+30319C>T (n.4+30319C>T) c.-43-20342C>T (n.-43-20342C>T) c.-99+30408C>T (n.-99+30408C>T) n.807-3C>T n.848-3C>T | |
| 17 | g.43094863G>C | CA2733921062 | BRCA1 | n.735-3C>G c.671-3C>G (n.671-3C>G) c.545-3C>G (n.545-3C>G) c.668-3C>G (n.668-3C>G) c.593-3C>G (n.593-3C>G) c.530-3C>G (n.530-3C>G) c.-218-3C>G (n.-218-3C>G) c.548-3C>G (n.548-3C>G) c.590-3C>G (n.590-3C>G) c.*679-3C>G (n.*679-3C>G) c.*545-3C>G (n.*545-3C>G) c.670+983C>G (n.670+983C>G) c.22-3C>G c.*454-3C>G (n.*454-3C>G) c.268-3C>G c.293-3C>G (n.293-3C>G) c.296-3C>G (n.296-3C>G) c.*607-3C>G (n.*607-3C>G) c.4+30319C>G (n.4+30319C>G) c.-43-20342C>G (n.-43-20342C>G) c.-99+30408C>G (n.-99+30408C>G) n.807-3C>G n.848-3C>G | dbSNP |
| 17 | g.43094864A>G | CA2733921064 | BRCA1 | n.735-4T>C c.671-4T>C (n.671-4T>C) c.545-4T>C (n.545-4T>C) c.668-4T>C (n.668-4T>C) c.593-4T>C (n.593-4T>C) c.530-4T>C (n.530-4T>C) c.-218-4T>C (n.-218-4T>C) c.548-4T>C (n.548-4T>C) c.590-4T>C (n.590-4T>C) c.*679-4T>C (n.*679-4T>C) c.*545-4T>C (n.*545-4T>C) c.670+982T>C (n.670+982T>C) c.22-4T>C c.*454-4T>C (n.*454-4T>C) c.268-4T>C c.293-4T>C (n.293-4T>C) c.296-4T>C (n.296-4T>C) c.*607-4T>C (n.*607-4T>C) c.4+30318T>C (n.4+30318T>C) c.-43-20343T>C (n.-43-20343T>C) c.-99+30407T>C (n.-99+30407T>C) n.807-4T>C n.848-4T>C | dbSNP |
| 17 | g.43094865A>G | CA2733921066 | BRCA1 | n.735-5T>C c.671-5T>C (n.671-5T>C) c.545-5T>C (n.545-5T>C) c.668-5T>C (n.668-5T>C) c.593-5T>C (n.593-5T>C) c.530-5T>C (n.530-5T>C) c.-218-5T>C (n.-218-5T>C) c.548-5T>C (n.548-5T>C) c.590-5T>C (n.590-5T>C) c.*679-5T>C (n.*679-5T>C) c.*545-5T>C (n.*545-5T>C) c.670+981T>C (n.670+981T>C) c.22-5T>C c.*454-5T>C (n.*454-5T>C) c.268-5T>C c.293-5T>C (n.293-5T>C) c.296-5T>C (n.296-5T>C) c.*607-5T>C (n.*607-5T>C) c.4+30317T>C (n.4+30317T>C) c.-43-20344T>C (n.-43-20344T>C) c.-99+30406T>C (n.-99+30406T>C) n.807-5T>C n.848-5T>C | dbSNP |
| 17 | g.43094866A= | CA2260785348 | BRCA1 | n.735-6T= c.671-6T= (n.671-6T=) c.545-6T= (n.545-6T=) c.668-6T= (n.668-6T=) c.593-6T= (n.593-6T=) c.530-6T= (n.530-6T=) c.-218-6T= (n.-218-6T=) c.548-6T= (n.548-6T=) c.590-6T= (n.590-6T=) c.*679-6T= (n.*679-6T=) c.*545-6T= (n.*545-6T=) c.670+980T= (n.670+980T=) c.22-6T= c.*454-6T= (n.*454-6T=) c.268-6T= c.293-6T= (n.293-6T=) c.296-6T= (n.296-6T=) c.*607-6T= (n.*607-6T=) c.4+30316T= (n.4+30316T=) c.-43-20345T= (n.-43-20345T=) c.-99+30405T= (n.-99+30405T=) n.807-6T= n.848-6T= | |
| 17 | g.43094866A>C | CA10583587 | BRCA1 | n.735-6T>G c.671-6T>G (n.671-6T>G) c.545-6T>G (n.545-6T>G) c.668-6T>G (n.668-6T>G) c.593-6T>G (n.593-6T>G) c.530-6T>G (n.530-6T>G) c.-218-6T>G (n.-218-6T>G) c.548-6T>G (n.548-6T>G) c.590-6T>G (n.590-6T>G) c.*679-6T>G (n.*679-6T>G) c.*545-6T>G (n.*545-6T>G) c.670+980T>G (n.670+980T>G) c.22-6T>G c.*454-6T>G (n.*454-6T>G) c.268-6T>G c.293-6T>G (n.293-6T>G) c.296-6T>G (n.296-6T>G) c.*607-6T>G (n.*607-6T>G) c.4+30316T>G (n.4+30316T>G) c.-43-20345T>G (n.-43-20345T>G) c.-99+30405T>G (n.-99+30405T>G) n.807-6T>G n.848-6T>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094866A>G | CA2733648436 | BRCA1 | n.735-6T>C c.671-6T>C (n.671-6T>C) c.545-6T>C (n.545-6T>C) c.668-6T>C (n.668-6T>C) c.593-6T>C (n.593-6T>C) c.530-6T>C (n.530-6T>C) c.-218-6T>C (n.-218-6T>C) c.548-6T>C (n.548-6T>C) c.590-6T>C (n.590-6T>C) c.*679-6T>C (n.*679-6T>C) c.*545-6T>C (n.*545-6T>C) c.670+980T>C (n.670+980T>C) c.22-6T>C c.*454-6T>C (n.*454-6T>C) c.268-6T>C c.293-6T>C (n.293-6T>C) c.296-6T>C (n.296-6T>C) c.*607-6T>C (n.*607-6T>C) c.4+30316T>C (n.4+30316T>C) c.-43-20345T>C (n.-43-20345T>C) c.-99+30405T>C (n.-99+30405T>C) n.807-6T>C n.848-6T>C | dbSNP |
| 17 | g.43094866A>T | CA2582342176 | BRCA1 | n.735-6T>A c.671-6T>A (n.671-6T>A) c.545-6T>A (n.545-6T>A) c.668-6T>A (n.668-6T>A) c.593-6T>A (n.593-6T>A) c.530-6T>A (n.530-6T>A) c.-218-6T>A (n.-218-6T>A) c.548-6T>A (n.548-6T>A) c.590-6T>A (n.590-6T>A) c.*679-6T>A (n.*679-6T>A) c.*545-6T>A (n.*545-6T>A) c.670+980T>A (n.670+980T>A) c.22-6T>A c.*454-6T>A (n.*454-6T>A) c.268-6T>A c.293-6T>A (n.293-6T>A) c.296-6T>A (n.296-6T>A) c.*607-6T>A (n.*607-6T>A) c.4+30316T>A (n.4+30316T>A) c.-43-20345T>A (n.-43-20345T>A) c.-99+30405T>A (n.-99+30405T>A) n.807-6T>A n.848-6T>A | ClinVar |
| 17 | g.43094867A>G | CA2697559885 | BRCA1 | n.735-7T>C c.671-7T>C (n.671-7T>C) c.545-7T>C (n.545-7T>C) c.668-7T>C (n.668-7T>C) c.593-7T>C (n.593-7T>C) c.530-7T>C (n.530-7T>C) c.-218-7T>C (n.-218-7T>C) c.548-7T>C (n.548-7T>C) c.590-7T>C (n.590-7T>C) c.*679-7T>C (n.*679-7T>C) c.*545-7T>C (n.*545-7T>C) c.670+979T>C (n.670+979T>C) c.22-7T>C c.*454-7T>C (n.*454-7T>C) c.268-7T>C c.293-7T>C (n.293-7T>C) c.296-7T>C (n.296-7T>C) c.*607-7T>C (n.*607-7T>C) c.4+30315T>C (n.4+30315T>C) c.-43-20346T>C (n.-43-20346T>C) c.-99+30404T>C (n.-99+30404T>C) n.807-7T>C n.848-7T>C | ClinVar |
| 17 | g.43094868T>A | CA645597394 | BRCA1 | n.735-8A>T c.671-8A>T (n.671-8A>T) c.545-8A>T (n.545-8A>T) c.668-8A>T (n.668-8A>T) c.593-8A>T (n.593-8A>T) c.530-8A>T (n.530-8A>T) c.-218-8A>T (n.-218-8A>T) c.548-8A>T (n.548-8A>T) c.590-8A>T (n.590-8A>T) c.*679-8A>T (n.*679-8A>T) c.*545-8A>T (n.*545-8A>T) c.670+978A>T (n.670+978A>T) c.22-8A>T c.*454-8A>T (n.*454-8A>T) c.268-8A>T c.293-8A>T (n.293-8A>T) c.296-8A>T (n.296-8A>T) c.*607-8A>T (n.*607-8A>T) c.4+30314A>T (n.4+30314A>T) c.-43-20347A>T (n.-43-20347A>T) c.-99+30403A>T (n.-99+30403A>T) n.807-8A>T n.848-8A>T | dbSNP COSMIC COSMIC |
| 17 | g.43094868T>C | CA003807 | BRCA1 | n.735-8A>G c.671-8A>G (n.671-8A>G) c.545-8A>G (n.545-8A>G) c.668-8A>G (n.668-8A>G) c.593-8A>G (n.593-8A>G) c.530-8A>G (n.530-8A>G) c.-218-8A>G (n.-218-8A>G) c.548-8A>G (n.548-8A>G) c.590-8A>G (n.590-8A>G) c.*679-8A>G (n.*679-8A>G) c.*545-8A>G (n.*545-8A>G) c.670+978A>G (n.670+978A>G) c.22-8A>G c.*454-8A>G (n.*454-8A>G) c.268-8A>G c.293-8A>G (n.293-8A>G) c.296-8A>G (n.296-8A>G) c.*607-8A>G (n.*607-8A>G) c.4+30314A>G (n.4+30314A>G) c.-43-20347A>G (n.-43-20347A>G) c.-99+30403A>G (n.-99+30403A>G) n.807-8A>G n.848-8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43094868T= | CA2260785349 | BRCA1 | n.735-8A= c.671-8A= (n.671-8A=) c.545-8A= (n.545-8A=) c.668-8A= (n.668-8A=) c.593-8A= (n.593-8A=) c.530-8A= (n.530-8A=) c.-218-8A= (n.-218-8A=) c.548-8A= (n.548-8A=) c.590-8A= (n.590-8A=) c.*679-8A= (n.*679-8A=) c.*545-8A= (n.*545-8A=) c.670+978A= (n.670+978A=) c.22-8A= c.*454-8A= (n.*454-8A=) c.268-8A= c.293-8A= (n.293-8A=) c.296-8A= (n.296-8A=) c.*607-8A= (n.*607-8A=) c.4+30314A= (n.4+30314A=) c.-43-20347A= (n.-43-20347A=) c.-99+30403A= (n.-99+30403A=) n.807-8A= n.848-8A= | |
| 17 | g.43094870T>A | CA983885360 | BRCA1 | n.735-10A>T c.671-10A>T (n.671-10A>T) c.545-10A>T (n.545-10A>T) c.668-10A>T (n.668-10A>T) c.593-10A>T (n.593-10A>T) c.530-10A>T (n.530-10A>T) c.-218-10A>T (n.-218-10A>T) c.548-10A>T (n.548-10A>T) c.590-10A>T (n.590-10A>T) c.*679-10A>T (n.*679-10A>T) c.*545-10A>T (n.*545-10A>T) c.670+976A>T (n.670+976A>T) c.22-10A>T c.*454-10A>T (n.*454-10A>T) c.268-10A>T c.293-10A>T (n.293-10A>T) c.296-10A>T (n.296-10A>T) c.*607-10A>T (n.*607-10A>T) c.4+30312A>T (n.4+30312A>T) c.-43-20349A>T (n.-43-20349A>T) c.-99+30401A>T (n.-99+30401A>T) n.807-10A>T n.848-10A>T | ClinVar dbSNP |
| 17 | g.43094870T>C | CA003799 | BRCA1 | n.735-10A>G c.671-10A>G (n.671-10A>G) c.545-10A>G (n.545-10A>G) c.668-10A>G (n.668-10A>G) c.593-10A>G (n.593-10A>G) c.530-10A>G (n.530-10A>G) c.-218-10A>G (n.-218-10A>G) c.548-10A>G (n.548-10A>G) c.590-10A>G (n.590-10A>G) c.*679-10A>G (n.*679-10A>G) c.*545-10A>G (n.*545-10A>G) c.670+976A>G (n.670+976A>G) c.22-10A>G c.*454-10A>G (n.*454-10A>G) c.268-10A>G c.293-10A>G (n.293-10A>G) c.296-10A>G (n.296-10A>G) c.*607-10A>G (n.*607-10A>G) c.4+30312A>G (n.4+30312A>G) c.-43-20349A>G (n.-43-20349A>G) c.-99+30401A>G (n.-99+30401A>G) n.807-10A>G n.848-10A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43094870T= | CA2260785350 | BRCA1 | n.735-10A= c.671-10A= (n.671-10A=) c.545-10A= (n.545-10A=) c.668-10A= (n.668-10A=) c.593-10A= (n.593-10A=) c.530-10A= (n.530-10A=) c.-218-10A= (n.-218-10A=) c.548-10A= (n.548-10A=) c.590-10A= (n.590-10A=) c.*679-10A= (n.*679-10A=) c.*545-10A= (n.*545-10A=) c.670+976A= (n.670+976A=) c.22-10A= c.*454-10A= (n.*454-10A=) c.268-10A= c.293-10A= (n.293-10A=) c.296-10A= (n.296-10A=) c.*607-10A= (n.*607-10A=) c.4+30312A= (n.4+30312A=) c.-43-20349A= (n.-43-20349A=) c.-99+30401A= (n.-99+30401A=) n.807-10A= n.848-10A= | |
| 17 | g.43094871A= | CA2260785351 | BRCA1 | n.735-11T= c.671-11T= (n.671-11T=) c.545-11T= (n.545-11T=) c.668-11T= (n.668-11T=) c.593-11T= (n.593-11T=) c.530-11T= (n.530-11T=) c.-218-11T= (n.-218-11T=) c.548-11T= (n.548-11T=) c.590-11T= (n.590-11T=) c.*679-11T= (n.*679-11T=) c.*545-11T= (n.*545-11T=) c.670+975T= (n.670+975T=) c.22-11T= c.*454-11T= (n.*454-11T=) c.268-11T= c.293-11T= (n.293-11T=) c.296-11T= (n.296-11T=) c.*607-11T= (n.*607-11T=) c.4+30311T= (n.4+30311T=) c.-43-20350T= (n.-43-20350T=) c.-99+30400T= (n.-99+30400T=) n.807-11T= n.848-11T= | |
| 17 | g.43094871A>C | CA2573154066 | BRCA1 | n.735-11T>G c.671-11T>G (n.671-11T>G) c.545-11T>G (n.545-11T>G) c.668-11T>G (n.668-11T>G) c.593-11T>G (n.593-11T>G) c.530-11T>G (n.530-11T>G) c.-218-11T>G (n.-218-11T>G) c.548-11T>G (n.548-11T>G) c.590-11T>G (n.590-11T>G) c.*679-11T>G (n.*679-11T>G) c.*545-11T>G (n.*545-11T>G) c.670+975T>G (n.670+975T>G) c.22-11T>G c.*454-11T>G (n.*454-11T>G) c.268-11T>G c.293-11T>G (n.293-11T>G) c.296-11T>G (n.296-11T>G) c.*607-11T>G (n.*607-11T>G) c.4+30311T>G (n.4+30311T>G) c.-43-20350T>G (n.-43-20350T>G) c.-99+30400T>G (n.-99+30400T>G) n.807-11T>G n.848-11T>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094871A>G | CA915950142 | BRCA1 | n.735-11T>C c.671-11T>C (n.671-11T>C) c.545-11T>C (n.545-11T>C) c.668-11T>C (n.668-11T>C) c.593-11T>C (n.593-11T>C) c.530-11T>C (n.530-11T>C) c.-218-11T>C (n.-218-11T>C) c.548-11T>C (n.548-11T>C) c.590-11T>C (n.590-11T>C) c.*679-11T>C (n.*679-11T>C) c.*545-11T>C (n.*545-11T>C) c.670+975T>C (n.670+975T>C) c.22-11T>C c.*454-11T>C (n.*454-11T>C) c.268-11T>C c.293-11T>C (n.293-11T>C) c.296-11T>C (n.296-11T>C) c.*607-11T>C (n.*607-11T>C) c.4+30311T>C (n.4+30311T>C) c.-43-20350T>C (n.-43-20350T>C) c.-99+30400T>C (n.-99+30400T>C) n.807-11T>C n.848-11T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094871A>T | CA2733677400 | BRCA1 | n.735-11T>A c.671-11T>A (n.671-11T>A) c.545-11T>A (n.545-11T>A) c.668-11T>A (n.668-11T>A) c.593-11T>A (n.593-11T>A) c.530-11T>A (n.530-11T>A) c.-218-11T>A (n.-218-11T>A) c.548-11T>A (n.548-11T>A) c.590-11T>A (n.590-11T>A) c.*679-11T>A (n.*679-11T>A) c.*545-11T>A (n.*545-11T>A) c.670+975T>A (n.670+975T>A) c.22-11T>A c.*454-11T>A (n.*454-11T>A) c.268-11T>A c.293-11T>A (n.293-11T>A) c.296-11T>A (n.296-11T>A) c.*607-11T>A (n.*607-11T>A) c.4+30311T>A (n.4+30311T>A) c.-43-20350T>A (n.-43-20350T>A) c.-99+30400T>A (n.-99+30400T>A) n.807-11T>A n.848-11T>A | dbSNP |
| 17 | g.43094871_43094872delinsAC | CA2260785352 | BRCA1 | n.735-12_735-11delinsGT c.671-12_671-11delinsGT (n.671-12_671-11delinsGT) c.545-12_545-11delinsGT (n.545-12_545-11delinsGT) c.668-12_668-11delinsGT (n.668-12_668-11delinsGT) c.593-12_593-11delinsGT (n.593-12_593-11delinsGT) c.530-12_530-11delinsGT (n.530-12_530-11delinsGT) c.-218-12_-218-11delinsGT (n.-218-12_-218-11delinsGT) c.548-12_548-11delinsGT (n.548-12_548-11delinsGT) c.590-12_590-11delinsGT (n.590-12_590-11delinsGT) c.*679-12_*679-11delinsGT (n.*679-12_*679-11delinsGT) c.*545-12_*545-11delinsGT (n.*545-12_*545-11delinsGT) c.670+974_670+975delinsGT (n.670+974_670+975delinsGT) c.22-12_22-11delinsGT c.*454-12_*454-11delinsGT (n.*454-12_*454-11delinsGT) c.268-12_268-11delinsGT c.293-12_293-11delinsGT (n.293-12_293-11delinsGT) c.296-12_296-11delinsGT (n.296-12_296-11delinsGT) c.*607-12_*607-11delinsGT (n.*607-12_*607-11delinsGT) c.4+30310_4+30311delinsGT (n.4+30310_4+30311delinsGT) c.-43-20351_-43-20350delinsGT (n.-43-20351_-43-20350delinsGT) c.-99+30399_-99+30400delinsGT (n.-99+30399_-99+30400delinsGT) n.807-12_807-11delinsGT n.848-12_848-11delinsGT | |
| 17 | g.43094872del | CA003800 | BRCA1 | n.735-12del c.671-12del (n.671-12del) c.545-12del (n.545-12del) c.668-12del (n.668-12del) c.593-12del (n.593-12del) c.530-12del (n.530-12del) c.-218-12del (n.-218-12del) c.548-12del (n.548-12del) c.590-12del (n.590-12del) c.*679-12del (n.*679-12del) c.*545-12del (n.*545-12del) c.670+974del (n.670+974del) c.22-12del c.*454-12del (n.*454-12del) c.268-12del c.293-12del (n.293-12del) c.296-12del (n.296-12del) c.*607-12del (n.*607-12del) c.4+30310del (n.4+30310del) c.-43-20351del (n.-43-20351del) c.-99+30399del (n.-99+30399del) n.807-12del n.848-12del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43094872C>A | CA057817 | BRCA1 | n.735-12G>T c.671-12G>T (n.671-12G>T) c.545-12G>T (n.545-12G>T) c.668-12G>T (n.668-12G>T) c.593-12G>T (n.593-12G>T) c.530-12G>T (n.530-12G>T) c.-218-12G>T (n.-218-12G>T) c.548-12G>T (n.548-12G>T) c.590-12G>T (n.590-12G>T) c.*679-12G>T (n.*679-12G>T) c.*545-12G>T (n.*545-12G>T) c.670+974G>T (n.670+974G>T) c.22-12G>T c.*454-12G>T (n.*454-12G>T) c.268-12G>T c.293-12G>T (n.293-12G>T) c.296-12G>T (n.296-12G>T) c.*607-12G>T (n.*607-12G>T) c.4+30310G>T (n.4+30310G>T) c.-43-20351G>T (n.-43-20351G>T) c.-99+30399G>T (n.-99+30399G>T) n.807-12G>T n.848-12G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43094872C= | CA2260785354 | BRCA1 | n.735-12G= c.671-12G= (n.671-12G=) c.545-12G= (n.545-12G=) c.668-12G= (n.668-12G=) c.593-12G= (n.593-12G=) c.530-12G= (n.530-12G=) c.-218-12G= (n.-218-12G=) c.548-12G= (n.548-12G=) c.590-12G= (n.590-12G=) c.*679-12G= (n.*679-12G=) c.*545-12G= (n.*545-12G=) c.670+974G= (n.670+974G=) c.22-12G= c.*454-12G= (n.*454-12G=) c.268-12G= c.293-12G= (n.293-12G=) c.296-12G= (n.296-12G=) c.*607-12G= (n.*607-12G=) c.4+30310G= (n.4+30310G=) c.-43-20351G= (n.-43-20351G=) c.-99+30399G= (n.-99+30399G=) n.807-12G= n.848-12G= | |
| 17 | g.43094872C>G | CA2573154067 | BRCA1 | n.735-12G>C c.671-12G>C (n.671-12G>C) c.545-12G>C (n.545-12G>C) c.668-12G>C (n.668-12G>C) c.593-12G>C (n.593-12G>C) c.530-12G>C (n.530-12G>C) c.-218-12G>C (n.-218-12G>C) c.548-12G>C (n.548-12G>C) c.590-12G>C (n.590-12G>C) c.*679-12G>C (n.*679-12G>C) c.*545-12G>C (n.*545-12G>C) c.670+974G>C (n.670+974G>C) c.22-12G>C c.*454-12G>C (n.*454-12G>C) c.268-12G>C c.293-12G>C (n.293-12G>C) c.296-12G>C (n.296-12G>C) c.*607-12G>C (n.*607-12G>C) c.4+30310G>C (n.4+30310G>C) c.-43-20351G>C (n.-43-20351G>C) c.-99+30399G>C (n.-99+30399G>C) n.807-12G>C n.848-12G>C | ClinVar dbSNP |
| 17 | g.43094872C>T | CA1139664809 | BRCA1 | n.735-12G>A c.671-12G>A (n.671-12G>A) c.545-12G>A (n.545-12G>A) c.668-12G>A (n.668-12G>A) c.593-12G>A (n.593-12G>A) c.530-12G>A (n.530-12G>A) c.-218-12G>A (n.-218-12G>A) c.548-12G>A (n.548-12G>A) c.590-12G>A (n.590-12G>A) c.*679-12G>A (n.*679-12G>A) c.*545-12G>A (n.*545-12G>A) c.670+974G>A (n.670+974G>A) c.22-12G>A c.*454-12G>A (n.*454-12G>A) c.268-12G>A c.293-12G>A (n.293-12G>A) c.296-12G>A (n.296-12G>A) c.*607-12G>A (n.*607-12G>A) c.4+30310G>A (n.4+30310G>A) c.-43-20351G>A (n.-43-20351G>A) c.-99+30399G>A (n.-99+30399G>A) n.807-12G>A n.848-12G>A | ClinVar dbSNP |
| 17 | g.43094872_43094873delinsCA | CA2260785353 | BRCA1 | n.735-13_735-12delinsTG c.671-13_671-12delinsTG (n.671-13_671-12delinsTG) c.545-13_545-12delinsTG (n.545-13_545-12delinsTG) c.668-13_668-12delinsTG (n.668-13_668-12delinsTG) c.593-13_593-12delinsTG (n.593-13_593-12delinsTG) c.530-13_530-12delinsTG (n.530-13_530-12delinsTG) c.-218-13_-218-12delinsTG (n.-218-13_-218-12delinsTG) c.548-13_548-12delinsTG (n.548-13_548-12delinsTG) c.590-13_590-12delinsTG (n.590-13_590-12delinsTG) c.*679-13_*679-12delinsTG (n.*679-13_*679-12delinsTG) c.*545-13_*545-12delinsTG (n.*545-13_*545-12delinsTG) c.670+973_670+974delinsTG (n.670+973_670+974delinsTG) c.22-13_22-12delinsTG c.*454-13_*454-12delinsTG (n.*454-13_*454-12delinsTG) c.268-13_268-12delinsTG c.293-13_293-12delinsTG (n.293-13_293-12delinsTG) c.296-13_296-12delinsTG (n.296-13_296-12delinsTG) c.*607-13_*607-12delinsTG (n.*607-13_*607-12delinsTG) c.4+30309_4+30310delinsTG (n.4+30309_4+30310delinsTG) c.-43-20352_-43-20351delinsTG (n.-43-20352_-43-20351delinsTG) c.-99+30398_-99+30399delinsTG (n.-99+30398_-99+30399delinsTG) n.807-13_807-12delinsTG n.848-13_848-12delinsTG | |
| 17 | g.43094873A>G | CA2638064086 | BRCA1 | n.735-13T>C c.671-13T>C (n.671-13T>C) c.545-13T>C (n.545-13T>C) c.668-13T>C (n.668-13T>C) c.593-13T>C (n.593-13T>C) c.530-13T>C (n.530-13T>C) c.-218-13T>C (n.-218-13T>C) c.548-13T>C (n.548-13T>C) c.590-13T>C (n.590-13T>C) c.*679-13T>C (n.*679-13T>C) c.*545-13T>C (n.*545-13T>C) c.670+973T>C (n.670+973T>C) c.22-13T>C c.*454-13T>C (n.*454-13T>C) c.268-13T>C c.293-13T>C (n.293-13T>C) c.296-13T>C (n.296-13T>C) c.*607-13T>C (n.*607-13T>C) c.4+30309T>C (n.4+30309T>C) c.-43-20352T>C (n.-43-20352T>C) c.-99+30398T>C (n.-99+30398T>C) n.807-13T>C n.848-13T>C | dbSNP gnomAD v4 |
| 17 | g.43094877dup | CA290850253 | BRCA1 | n.735-13dup c.671-13dup (n.671-13dup) c.545-13dup (n.545-13dup) c.668-13dup (n.668-13dup) c.593-13dup (n.593-13dup) c.530-13dup (n.530-13dup) c.-218-13dup (n.-218-13dup) c.548-13dup (n.548-13dup) c.590-13dup (n.590-13dup) c.*679-13dup (n.*679-13dup) c.*545-13dup (n.*545-13dup) c.670+973dup (n.670+973dup) c.22-13dup c.*454-13dup (n.*454-13dup) c.268-13dup c.293-13dup (n.293-13dup) c.296-13dup (n.296-13dup) c.*607-13dup (n.*607-13dup) c.4+30309dup (n.4+30309dup) c.-43-20352dup (n.-43-20352dup) c.-99+30398dup (n.-99+30398dup) n.807-13dup n.848-13dup | ClinVar dbSNP |
| 17 | g.43094877del | CA16615431 | BRCA1 | n.735-13del c.671-13del (n.671-13del) c.545-13del (n.545-13del) c.668-13del (n.668-13del) c.593-13del (n.593-13del) c.530-13del (n.530-13del) c.-218-13del (n.-218-13del) c.548-13del (n.548-13del) c.590-13del (n.590-13del) c.*679-13del (n.*679-13del) c.*545-13del (n.*545-13del) c.670+973del (n.670+973del) c.22-13del c.*454-13del (n.*454-13del) c.268-13del c.293-13del (n.293-13del) c.296-13del (n.296-13del) c.*607-13del (n.*607-13del) c.4+30309del (n.4+30309del) c.-43-20352del (n.-43-20352del) c.-99+30398del (n.-99+30398del) n.807-13del n.848-13del | ClinVar dbSNP gnomAD v2 |
| 17 | g.43094876_43094877del | CA2733640526 | BRCA1 | n.735-14_735-13del c.671-14_671-13del (n.671-14_671-13del) c.545-14_545-13del (n.545-14_545-13del) c.668-14_668-13del (n.668-14_668-13del) c.593-14_593-13del (n.593-14_593-13del) c.530-14_530-13del (n.530-14_530-13del) c.-218-14_-218-13del (n.-218-14_-218-13del) c.548-14_548-13del (n.548-14_548-13del) c.590-14_590-13del (n.590-14_590-13del) c.*679-14_*679-13del (n.*679-14_*679-13del) c.*545-14_*545-13del (n.*545-14_*545-13del) c.670+972_670+973del (n.670+972_670+973del) c.22-14_22-13del c.*454-14_*454-13del (n.*454-14_*454-13del) c.268-14_268-13del c.293-14_293-13del (n.293-14_293-13del) c.296-14_296-13del (n.296-14_296-13del) c.*607-14_*607-13del (n.*607-14_*607-13del) c.4+30308_4+30309del (n.4+30308_4+30309del) c.-43-20353_-43-20352del (n.-43-20353_-43-20352del) c.-99+30397_-99+30398del (n.-99+30397_-99+30398del) n.807-14_807-13del n.848-14_848-13del | dbSNP |
| 17 | g.43094875_43094877del | CA2638064085 | BRCA1 | n.735-15_735-13del c.671-15_671-13del (n.671-15_671-13del) c.545-15_545-13del (n.545-15_545-13del) c.668-15_668-13del (n.668-15_668-13del) c.593-15_593-13del (n.593-15_593-13del) c.530-15_530-13del (n.530-15_530-13del) c.-218-15_-218-13del (n.-218-15_-218-13del) c.548-15_548-13del (n.548-15_548-13del) c.590-15_590-13del (n.590-15_590-13del) c.*679-15_*679-13del (n.*679-15_*679-13del) c.*545-15_*545-13del (n.*545-15_*545-13del) c.670+971_670+973del (n.670+971_670+973del) c.22-15_22-13del c.*454-15_*454-13del (n.*454-15_*454-13del) c.268-15_268-13del c.293-15_293-13del (n.293-15_293-13del) c.296-15_296-13del (n.296-15_296-13del) c.*607-15_*607-13del (n.*607-15_*607-13del) c.4+30307_4+30309del (n.4+30307_4+30309del) c.-43-20354_-43-20352del (n.-43-20354_-43-20352del) c.-99+30396_-99+30398del (n.-99+30396_-99+30398del) n.807-15_807-13del n.848-15_848-13del | gnomAD v4 |