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.43090942_43094828del | CA2499224437 | BRCA1 | c.705_4185+4del c.579_4059+4del c.702_4182+4del c.627_4107+4del c.702_873+4del c.564_735+4del c.-184_3297+4del c.582_4062+4del c.564_4044+4del c.582_753+4del c.624_795+4del c.670+1020_759+4del c.*488_*3968+4del c.705_876+4del c.327_498+4del c.330_501+4del c.4+30356_5-26989del (n.4+30356_5-26989del) c.-43-20305_-43-16419del (n.-43-20305_-43-16419del) c.-99+30445_-99+34331del (n.-99+30445_-99+34331del) n.841_4321+4del n.882_4362+4del | ClinVar |
| 17 | g.43090946_43097291del | CA2580061395 | BRCA1 | c.549_4185+1del c.545-2428_4059+1del c.546_4182+1del c.471_4107+1del c.546_873+1del c.408_735+1del c.-218-2428_3297+1del c.548-2428_4062+1del c.408_4044+1del c.548-2428_753+1del c.468_795+1del c.549_759+1del c.*332_*3968+1del c.549_876+1del c.293-2428_498+1del c.296-2428_501+1del c.4+27894_5-26992del (n.4+27894_5-26992del) c.-43-22767_-43-16422del (n.-43-22767_-43-16422del) c.-99+27983_-99+34328del (n.-99+27983_-99+34328del) n.685_4321+1del n.726_4362+1del | ClinVar |
| 17 | g.43091435_43094858dup | CA2579756134 | BRCA1 | n.738_4161dup c.674_4096+1dup c.548_3970+1dup c.671_4093+1dup c.596_4018+1dup c.671_785-402dup c.533_647-402dup c.-215_3208+1dup c.551_3973+1dup c.533_3955+1dup c.551_665-402dup c.593_707-402dup c.670+989_671-402dup (n.670+989_671-402dup) c.674_4097dup (p.Ile1367LeufsTer2) c.*457_*3879+1dup c.674_788-402dup c.296_410-402dup c.299_413-402dup c.4+30325_5-27483dup (n.4+30325_5-27483dup) c.-43-20336_-43-16913dup (n.-43-20336_-43-16913dup) c.-99+30414_-99+33837dup (n.-99+30414_-99+33837dup) n.810_4232+1dup n.851_4273+1dup | |
| 17 | g.43091435_43094859dup | CA2579756133 | BRCA1 | n.736_4160dup c.672_4096dup (p.Gly1366ValfsTer10) c.546_3970dup (p.Gly1324ValfsTer10) c.669_4093dup (p.Gly1365ValfsTer10) c.594_4018dup (p.Gly1340ValfsTer10) c.669_785-403dup c.531_647-403dup c.-217_3208dup (p.Gly1070ValfsTer10) c.549_3973dup (p.Gly1325ValfsTer10) c.531_3955dup (p.Gly1319ValfsTer10) c.549_665-403dup c.591_707-403dup c.670+987_671-403dup (n.670+987_671-403dup) c.*455_*3879dup (n.*455_*3879dup) c.672_788-403dup c.294_410-403dup c.297_413-403dup c.4+30323_5-27484dup (n.4+30323_5-27484dup) c.-43-20338_-43-16914dup (n.-43-20338_-43-16914dup) c.-99+30412_-99+33836dup (n.-99+30412_-99+33836dup) n.808_4232dup n.849_4273dup | |
| 17 | g.43091437_43094862del | CA2580618251 | BRCA1 | n.735_4160del c.671_4096del c.545_3970del c.668_4093del c.593_4018del c.668_785-403del c.530_647-403del c.-218_3208del c.548_3973del c.530_3955del c.548_665-403del c.590_707-403del c.670+986_671-403del (n.670+986_671-403del) c.*454_*3879del c.671_788-403del c.293_410-403del c.296_413-403del c.4+30322_5-27484del (n.4+30322_5-27484del) c.-43-20339_-43-16914del (n.-43-20339_-43-16914del) c.-99+30411_-99+33836del (n.-99+30411_-99+33836del) n.807_4232del n.848_4273del | |
| 17 | g.43091633_43094861del | CA2580618250 | BRCA1 | n.736_3964del c.672_3900del c.546_3774del c.669_3897del c.594_3822del c.669_785-599del c.531_647-599del c.-217_3012del c.549_3777del c.531_3759del c.549_665-599del c.591_707-599del c.670+987_671-599del (n.670+987_671-599del) c.*455_*3683del c.672_788-599del c.294_410-599del c.297_413-599del c.4+30323_5-27680del (n.4+30323_5-27680del) c.-43-20338_-43-17110del (n.-43-20338_-43-17110del) c.-99+30412_-99+33640del (n.-99+30412_-99+33640del) n.808_4036del n.849_4077del | |
| 17 | g.43093751_43094887del | CA10602596 | BRCA1 | n.735-26_1845del c.671-26_1781del c.545-26_1655del c.668-26_1778del c.593-26_1703del c.668-26_784+994del c.530-26_646+994del c.-218-26_893del c.548-26_1658del c.530-26_1640del c.548-26_664+994del c.590-26_706+994del c.670+960_670+2096del (n.670+960_670+2096del) c.22-26_1132del c.*454-26_*1564del c.671-26_787+994del c.293-26_409+994del c.296-26_412+994del c.4+30296_5-29799del (n.4+30296_5-29799del) c.-43-20365_-43-19229del (n.-43-20365_-43-19229del) c.-99+30385_-99+31521del (n.-99+30385_-99+31521del) n.807-26_1917del n.848-26_1958del | ClinVar |
| 17 | g.43093881_43094860dup | CA2580618106 | BRCA1 | n.735_1714dup c.671_1650dup (p.Ser551LeufsTer10) c.545_1524dup (p.Ser509LeufsTer10) c.668_1647dup (p.Ser550LeufsTer10) c.593_1572dup (p.Ser525LeufsTer10) c.668_784+863dup c.530_646+863dup c.-218_762dup (p.Ser255LeufsTer10) c.548_1527dup (p.Ser510LeufsTer10) c.530_1509dup (p.Ser504LeufsTer10) c.548_664+863dup c.590_706+863dup c.670+986_670+1965dup (n.670+986_670+1965dup) c.22_1001dup c.*454_*1433dup (n.*454_*1433dup) c.671_787+863dup c.293_409+863dup c.296_412+863dup c.4+30322_5-29930dup (n.4+30322_5-29930dup) c.-43-20339_-43-19360dup (n.-43-20339_-43-19360dup) c.-99+30411_-99+31390dup (n.-99+30411_-99+31390dup) n.807_1786dup n.848_1827dup | |
| 17 | g.43094513_43094886del | CA1139664799 | BRCA1 | n.735-26_1082del c.671-26_1018del c.545-26_892del c.668-26_1015del c.593-26_940del c.668-26_784+231del c.530-26_646+231del c.-218-26_130del c.548-26_895del c.530-26_877del c.548-26_664+231del c.590-26_706+231del c.*679-26_*1026del c.*545-26_*892del c.670+960_670+1333del (n.670+960_670+1333del) c.22-26_369del c.*454-26_*801del c.671-26_787+231del c.268-26_615del c.293-26_409+231del c.296-26_412+231del c.*607-26_*954del c.4+30296_5-30562del (n.4+30296_5-30562del) c.-43-20365_-43-19992del (n.-43-20365_-43-19992del) c.-99+30385_-99+30758del (n.-99+30385_-99+30758del) n.807-26_1154del n.848-26_1195del | ClinVar |
| 17 | g.43094557_43101117del | CA16043351 | BRCA1 | n.506-1235_1040del c.442-1235_976del c.442-1238_850del c.442-1238_973del c.364-1235_898del c.442-1238_784+189del c.301-1235_646+189del c.-218-6255_88del c.442-1235_853del c.301-1235_835del c.442-1235_664+189del c.364-1238_706+189del c.*356-1235_*984del c.*316-1235_*850del c.442-1235_670+1291del c.*228-1238_*759del c.442-1235_787+189del c.165-1238_573del c.190-1238_409+189del c.190-1235_412+189del c.*378-1235_*912del c.4+24067_5-30604del (n.4+24067_5-30604del) c.-44+24156_-43-20034del (n.-44+24156_-43-20034del) c.-99+24156_-99+30716del (n.-99+24156_-99+30716del) n.581-1238_1112del n.622-1238_1153del | ClinVar |
| 17 | g.43094629_43095075delinsTTTTCTACATTCATTCTGTCTTTAGTGAGTAATAAACTGCTGTTCTCATGCTGTAATGAGCTGGCATGAGTATTTGTGCCACATGGCTCCACATGCAAGTTTGAAACAGAACTACCCTGATACTTTTCTGGATGCCTCTCAGCTGCACGCTTCTCAGTGGTGTTCAAATCATTATTACTGGGTTGATGATGTTCAGTATTTGTTACATCCGTCTCAGAAAATTCACAAGCAGCTGAAAATATACAAAAATAACAAGGTACTCAAAAACTGAATTGTCATTAAAAAAATACATACTTCATACACCTTGGAGGTGGAAATCAACCAACTGGCTATATTAGAGAAACTAACCTCATAAACTACCAAGTATACTGAAGATGTAGCTCATACTCTTTCATTTAATTCCTATTTACCTAGATTATTTCCACTTAGGATCCATTAAATTTTTAA | CA2260785126 | BRCA1 | n.735-215_966delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.671-215_902delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.545-215_776delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.668-215_899delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.593-215_824delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.668-215_784+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.530-215_646+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.-218-215_14delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.548-215_779delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.530-215_761delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.548-215_664+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.590-215_706+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*679-215_*910delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*545-215_*776delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.670+771_670+1217delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.670+771_670+1217delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) c.22-215_253delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*454-215_*685delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.671-215_787+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.268-215_499delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.293-215_409+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.296-215_412+115delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.*607-215_*838delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA c.4+30107_4+30553delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.4+30107_4+30553delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) c.-43-20554_-43-20108delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.-43-20554_-43-20108delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) c.-99+30196_-99+30642delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA (n.-99+30196_-99+30642delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA) n.807-215_1038delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA n.848-215_1079delinsTTAAAAATTTAATGGATCCTAAGTGGAAATAATCTAGGTAAATAGGAATTAAATGAAAGAGTATGAGCTACATCTTCAGTATACTTGGTAGTTTATGAGGTTAGTTTCTCTAATATAGCCAGTTGGTTGATTTCCACCTCCAAGGTGTATGAAGTATGTATTTTTTTAATGACAATTCAGTTTTTGAGTACCTTGTTATTTTTGTATATTTTCAGCTGCTTGTGAATTTTCTGAGACGGATGTAACAAATACTGAACATCATCAACCCAGTAATAATGATTTGAACACCACTGAGAAGCGTGCAGCTGAGAGGCATCCAGAAAAGTATCAGGGTAGTTCTGTTTCAAACTTGCATGTGGAGCCATGTGGCACAAATACTCATGCCAGCTCATTACAGCATGAGAACAGCAGTTTATTACTCACTAAAGACAGAATGAATGTAGAAAA | |
| 17 | g.43094634_43095079del | CA10602598 | BRCA1 | n.735-215_965del c.671-215_901del c.545-215_775del c.668-215_898del c.593-215_823del c.668-215_784+114del c.530-215_646+114del c.-218-215_13del c.548-215_778del c.530-215_760del c.548-215_664+114del c.590-215_706+114del c.*679-215_*909del c.*545-215_*775del c.670+771_670+1216del (n.670+771_670+1216del) c.22-215_252del c.*454-215_*684del c.671-215_787+114del c.268-215_498del c.293-215_409+114del c.296-215_412+114del c.*607-215_*837del c.4+30107_4+30552del (n.4+30107_4+30552del) c.-43-20554_-43-20109del (n.-43-20554_-43-20109del) c.-99+30196_-99+30641del (n.-99+30196_-99+30641del) n.807-215_1037del n.848-215_1078del | ClinVar dbSNP |
| 17 | g.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.43094767_43094768dup | CA2638063938 | BRCA1 | n.830_831dup c.766_767dup (p.His257GlyfsTer?) c.640_641dup (p.His215GlyfsTer?) c.763_764dup (p.His256GlyfsTer?) c.688_689dup (p.His231GlyfsTer?) c.625_626dup (p.His210GlyfsTer?) c.-123_-122dup (n.-123_-122dup) c.643_644dup (p.His216GlyfsTer?) c.685_686dup (p.His230GlyfsTer?) c.*774_*775dup (n.*774_*775dup) c.*640_*641dup (n.*640_*641dup) c.670+1081_670+1082dup (n.670+1081_670+1082dup) c.117_118dup c.*549_*550dup (n.*549_*550dup) c.363_364dup c.388_389dup (p.His131GlyfsTer?) c.391_392dup (p.His132GlyfsTer?) c.*702_*703dup (n.*702_*703dup) c.4+30417_4+30418dup (n.4+30417_4+30418dup) c.-43-20244_-43-20243dup (n.-43-20244_-43-20243dup) c.-99+30506_-99+30507dup (n.-99+30506_-99+30507dup) n.902_903dup n.943_944dup | gnomAD v4 |
| 17 | g.43094771_43094785del | CA2573154064 | BRCA1 | n.816_830del c.752_766del (p.Lys251_Glu255del) c.626_640del (p.Lys209_Glu213del) c.749_763del (p.Lys250_Glu254del) c.674_688del (p.Lys225_Glu229del) c.611_625del (p.Lys204_Glu208del) c.-137_-123del (n.-137_-123del) c.629_643del (p.Lys210_Glu214del) c.671_685del (p.Lys224_Glu228del) c.*760_*774del (n.*760_*774del) c.*626_*640del (n.*626_*640del) c.670+1067_670+1081del (n.670+1067_670+1081del) c.103_117del c.*535_*549del (n.*535_*549del) c.349_363del c.374_388del (p.Lys125_Glu129del) c.377_391del (p.Lys126_Glu130del) c.*688_*702del (n.*688_*702del) c.4+30403_4+30417del (n.4+30403_4+30417del) c.-43-20258_-43-20244del (n.-43-20258_-43-20244del) c.-99+30492_-99+30506del (n.-99+30492_-99+30506del) n.888_902del n.929_943del | ClinVar dbSNP |
| 17 | g.43094768C>A | CA003854 | BRCA1 | n.827G>T c.763G>T (p.Glu255Ter) c.637G>T (p.Glu213Ter) c.760G>T (p.Glu254Ter) c.685G>T (p.Glu229Ter) c.622G>T (p.Glu208Ter) c.-126G>T (n.-126G>T) c.640G>T (p.Glu214Ter) c.682G>T (p.Glu228Ter) c.*771G>T (n.*771G>T) c.*637G>T (n.*637G>T) c.670+1078G>T (n.670+1078G>T) c.114G>T c.*546G>T (n.*546G>T) c.360G>T c.385G>T (p.Glu129Ter) c.388G>T (p.Glu130Ter) c.*699G>T (n.*699G>T) c.4+30414G>T (n.4+30414G>T) c.-43-20247G>T (n.-43-20247G>T) c.-99+30503G>T (n.-99+30503G>T) n.899G>T n.940G>T | ClinVar dbSNP |
| 17 | g.43094768C= | CA2260785260 | BRCA1 | n.827G= c.763G= (p.Glu255=) c.637G= (p.Glu213=) c.760G= (p.Glu254=) c.685G= (p.Glu229=) c.622G= (p.Glu208=) c.-126G= (n.-126G=) c.640G= (p.Glu214=) c.682G= (p.Glu228=) c.*771G= (n.*771G=) c.*637G= (n.*637G=) c.670+1078G= (n.670+1078G=) c.114G= c.*546G= (n.*546G=) c.360G= c.385G= (p.Glu129=) c.388G= (p.Glu130=) c.*699G= (n.*699G=) c.4+30414G= (n.4+30414G=) c.-43-20247G= (n.-43-20247G=) c.-99+30503G= (n.-99+30503G=) n.899G= n.940G= | |
| 17 | g.43094768C>G | CA10600558 | BRCA1 | n.827G>C c.763G>C (p.Glu255Gln) c.637G>C (p.Glu213Gln) c.760G>C (p.Glu254Gln) c.685G>C (p.Glu229Gln) c.622G>C (p.Glu208Gln) c.-126G>C (n.-126G>C) c.640G>C (p.Glu214Gln) c.682G>C (p.Glu228Gln) c.*771G>C (n.*771G>C) c.*637G>C (n.*637G>C) c.670+1078G>C (n.670+1078G>C) c.114G>C c.*546G>C (n.*546G>C) c.360G>C c.385G>C (p.Glu129Gln) c.388G>C (p.Glu130Gln) c.*699G>C (n.*699G>C) c.4+30414G>C (n.4+30414G>C) c.-43-20247G>C (n.-43-20247G>C) c.-99+30503G>C (n.-99+30503G>C) n.899G>C n.940G>C | dbSNP |
| 17 | g.43094768C>T | CA10600559 | BRCA1 | n.827G>A c.763G>A (p.Glu255Lys) c.637G>A (p.Glu213Lys) c.760G>A (p.Glu254Lys) c.685G>A (p.Glu229Lys) c.622G>A (p.Glu208Lys) c.-126G>A (n.-126G>A) c.640G>A (p.Glu214Lys) c.682G>A (p.Glu228Lys) c.*771G>A (n.*771G>A) c.*637G>A (n.*637G>A) c.670+1078G>A (n.670+1078G>A) c.114G>A c.*546G>A (n.*546G>A) c.360G>A c.385G>A (p.Glu129Lys) c.388G>A (p.Glu130Lys) c.*699G>A (n.*699G>A) c.4+30414G>A (n.4+30414G>A) c.-43-20247G>A (n.-43-20247G>A) c.-99+30503G>A (n.-99+30503G>A) n.899G>A n.940G>A | dbSNP |
| 17 | g.43094769A= | CA2260785261 | BRCA1 | n.826T= c.762T= (p.Ala254=) c.636T= (p.Ala212=) c.759T= (p.Ala253=) c.684T= (p.Ala228=) c.621T= (p.Ala207=) c.-127T= (n.-127T=) c.639T= (p.Ala213=) c.681T= (p.Ala227=) c.*770T= (n.*770T=) c.*636T= (n.*636T=) c.670+1077T= (n.670+1077T=) c.113T= c.*545T= (n.*545T=) c.359T= c.384T= (p.Ala128=) c.387T= (p.Ala129=) c.*698T= (n.*698T=) c.4+30413T= (n.4+30413T=) c.-43-20248T= (n.-43-20248T=) c.-99+30502T= (n.-99+30502T=) n.898T= n.939T= | |
| 17 | g.43094769A>C | CA500233503 | BRCA1 | n.826T>G c.762T>G (p.Ala254=) c.636T>G (p.Ala212=) c.759T>G (p.Ala253=) c.684T>G (p.Ala228=) c.621T>G (p.Ala207=) c.-127T>G (n.-127T>G) c.639T>G (p.Ala213=) c.681T>G (p.Ala227=) c.*770T>G (n.*770T>G) c.*636T>G (n.*636T>G) c.670+1077T>G (n.670+1077T>G) c.113T>G c.*545T>G (n.*545T>G) c.359T>G c.384T>G (p.Ala128=) c.387T>G (p.Ala129=) c.*698T>G (n.*698T>G) c.4+30413T>G (n.4+30413T>G) c.-43-20248T>G (n.-43-20248T>G) c.-99+30502T>G (n.-99+30502T>G) n.898T>G n.939T>G | |
| 17 | g.43094769A>G | CA500233509 | BRCA1 | n.826T>C c.762T>C (p.Ala254=) c.636T>C (p.Ala212=) c.759T>C (p.Ala253=) c.684T>C (p.Ala228=) c.621T>C (p.Ala207=) c.-127T>C (n.-127T>C) c.639T>C (p.Ala213=) c.681T>C (p.Ala227=) c.*770T>C (n.*770T>C) c.*636T>C (n.*636T>C) c.670+1077T>C (n.670+1077T>C) c.113T>C c.*545T>C (n.*545T>C) c.359T>C c.384T>C (p.Ala128=) c.387T>C (p.Ala129=) c.*698T>C (n.*698T>C) c.4+30413T>C (n.4+30413T>C) c.-43-20248T>C (n.-43-20248T>C) c.-99+30502T>C (n.-99+30502T>C) n.898T>C n.939T>C | ClinVar dbSNP |
| 17 | g.43094769A>T | CA500233507 | BRCA1 | n.826T>A c.762T>A (p.Ala254=) c.636T>A (p.Ala212=) c.759T>A (p.Ala253=) c.684T>A (p.Ala228=) c.621T>A (p.Ala207=) c.-127T>A (n.-127T>A) c.639T>A (p.Ala213=) c.681T>A (p.Ala227=) c.*770T>A (n.*770T>A) c.*636T>A (n.*636T>A) c.670+1077T>A (n.670+1077T>A) c.113T>A c.*545T>A (n.*545T>A) c.359T>A c.384T>A (p.Ala128=) c.387T>A (p.Ala129=) c.*698T>A (n.*698T>A) c.4+30413T>A (n.4+30413T>A) c.-43-20248T>A (n.-43-20248T>A) c.-99+30502T>A (n.-99+30502T>A) n.898T>A n.939T>A | dbSNP |
| 17 | g.43094770G>A | CA10600560 | BRCA1 | n.825C>T c.761C>T (p.Ala254Val) c.635C>T (p.Ala212Val) c.758C>T (p.Ala253Val) c.683C>T (p.Ala228Val) c.620C>T (p.Ala207Val) c.-128C>T (n.-128C>T) c.638C>T (p.Ala213Val) c.680C>T (p.Ala227Val) c.*769C>T (n.*769C>T) c.*635C>T (n.*635C>T) c.670+1076C>T (n.670+1076C>T) c.112C>T c.*544C>T (n.*544C>T) c.358C>T c.383C>T (p.Ala128Val) c.386C>T (p.Ala129Val) c.*697C>T (n.*697C>T) c.4+30412C>T (n.4+30412C>T) c.-43-20249C>T (n.-43-20249C>T) c.-99+30501C>T (n.-99+30501C>T) n.897C>T n.938C>T | dbSNP |
| 17 | g.43094770G>C | CA10600561 | BRCA1 | n.825C>G c.761C>G (p.Ala254Gly) c.635C>G (p.Ala212Gly) c.758C>G (p.Ala253Gly) c.683C>G (p.Ala228Gly) c.620C>G (p.Ala207Gly) c.-128C>G (n.-128C>G) c.638C>G (p.Ala213Gly) c.680C>G (p.Ala227Gly) c.*769C>G (n.*769C>G) c.*635C>G (n.*635C>G) c.670+1076C>G (n.670+1076C>G) c.112C>G c.*544C>G (n.*544C>G) c.358C>G c.383C>G (p.Ala128Gly) c.386C>G (p.Ala129Gly) c.*697C>G (n.*697C>G) c.4+30412C>G (n.4+30412C>G) c.-43-20249C>G (n.-43-20249C>G) c.-99+30501C>G (n.-99+30501C>G) n.897C>G n.938C>G | dbSNP |
| 17 | g.43094770G>T | CA10600562 | BRCA1 | n.825C>A c.761C>A (p.Ala254Asp) c.635C>A (p.Ala212Asp) c.758C>A (p.Ala253Asp) c.683C>A (p.Ala228Asp) c.620C>A (p.Ala207Asp) c.-128C>A (n.-128C>A) c.638C>A (p.Ala213Asp) c.680C>A (p.Ala227Asp) c.*769C>A (n.*769C>A) c.*635C>A (n.*635C>A) c.670+1076C>A (n.670+1076C>A) c.112C>A c.*544C>A (n.*544C>A) c.358C>A c.383C>A (p.Ala128Asp) c.386C>A (p.Ala129Asp) c.*697C>A (n.*697C>A) c.4+30412C>A (n.4+30412C>A) c.-43-20249C>A (n.-43-20249C>A) c.-99+30501C>A (n.-99+30501C>A) n.897C>A n.938C>A | dbSNP |
| 17 | g.43094771C>A | CA10600563 | BRCA1 | n.824G>T c.760G>T (p.Ala254Ser) c.634G>T (p.Ala212Ser) c.757G>T (p.Ala253Ser) c.682G>T (p.Ala228Ser) c.619G>T (p.Ala207Ser) c.-129G>T (n.-129G>T) c.637G>T (p.Ala213Ser) c.679G>T (p.Ala227Ser) c.*768G>T (n.*768G>T) c.*634G>T (n.*634G>T) c.670+1075G>T (n.670+1075G>T) c.111G>T c.*543G>T (n.*543G>T) c.357G>T c.382G>T (p.Ala128Ser) c.385G>T (p.Ala129Ser) c.*696G>T (n.*696G>T) c.4+30411G>T (n.4+30411G>T) c.-43-20250G>T (n.-43-20250G>T) c.-99+30500G>T (n.-99+30500G>T) n.896G>T n.937G>T | dbSNP |
| 17 | g.43094771C>G | CA10600564 | BRCA1 | n.824G>C c.760G>C (p.Ala254Pro) c.634G>C (p.Ala212Pro) c.757G>C (p.Ala253Pro) c.682G>C (p.Ala228Pro) c.619G>C (p.Ala207Pro) c.-129G>C (n.-129G>C) c.637G>C (p.Ala213Pro) c.679G>C (p.Ala227Pro) c.*768G>C (n.*768G>C) c.*634G>C (n.*634G>C) c.670+1075G>C (n.670+1075G>C) c.111G>C c.*543G>C (n.*543G>C) c.357G>C c.382G>C (p.Ala128Pro) c.385G>C (p.Ala129Pro) c.*696G>C (n.*696G>C) c.4+30411G>C (n.4+30411G>C) c.-43-20250G>C (n.-43-20250G>C) c.-99+30500G>C (n.-99+30500G>C) n.896G>C n.937G>C | dbSNP |
| 17 | g.43094771C>T | CA10600565 | BRCA1 | n.824G>A c.760G>A (p.Ala254Thr) c.634G>A (p.Ala212Thr) c.757G>A (p.Ala253Thr) c.682G>A (p.Ala228Thr) c.619G>A (p.Ala207Thr) c.-129G>A (n.-129G>A) c.637G>A (p.Ala213Thr) c.679G>A (p.Ala227Thr) c.*768G>A (n.*768G>A) c.*634G>A (n.*634G>A) c.670+1075G>A (n.670+1075G>A) c.111G>A c.*543G>A (n.*543G>A) c.357G>A c.382G>A (p.Ala128Thr) c.385G>A (p.Ala129Thr) c.*696G>A (n.*696G>A) c.4+30411G>A (n.4+30411G>A) c.-43-20250G>A (n.-43-20250G>A) c.-99+30500G>A (n.-99+30500G>A) n.896G>A n.937G>A | ClinVar dbSNP |
| 17 | g.43094772T>A | CA500233515 | BRCA1 | n.823A>T c.759A>T (p.Ala253=) c.633A>T (p.Ala211=) c.756A>T (p.Ala252=) c.681A>T (p.Ala227=) c.618A>T (p.Ala206=) c.-130A>T (n.-130A>T) c.636A>T (p.Ala212=) c.678A>T (p.Ala226=) c.*767A>T (n.*767A>T) c.*633A>T (n.*633A>T) c.670+1074A>T (n.670+1074A>T) c.110A>T c.*542A>T (n.*542A>T) c.356A>T c.381A>T (p.Ala127=) c.384A>T (p.Ala128=) c.*695A>T (n.*695A>T) c.4+30410A>T (n.4+30410A>T) c.-43-20251A>T (n.-43-20251A>T) c.-99+30499A>T (n.-99+30499A>T) n.895A>T n.936A>T | ClinVar dbSNP |
| 17 | g.43094772T>C | CA500233512 | BRCA1 | n.823A>G c.759A>G (p.Ala253=) c.633A>G (p.Ala211=) c.756A>G (p.Ala252=) c.681A>G (p.Ala227=) c.618A>G (p.Ala206=) c.-130A>G (n.-130A>G) c.636A>G (p.Ala212=) c.678A>G (p.Ala226=) c.*767A>G (n.*767A>G) c.*633A>G (n.*633A>G) c.670+1074A>G (n.670+1074A>G) c.110A>G c.*542A>G (n.*542A>G) c.356A>G c.381A>G (p.Ala127=) c.384A>G (p.Ala128=) c.*695A>G (n.*695A>G) c.4+30410A>G (n.4+30410A>G) c.-43-20251A>G (n.-43-20251A>G) c.-99+30499A>G (n.-99+30499A>G) n.895A>G n.936A>G | dbSNP |
| 17 | g.43094772T>G | CA500233514 | BRCA1 | n.823A>C c.759A>C (p.Ala253=) c.633A>C (p.Ala211=) c.756A>C (p.Ala252=) c.681A>C (p.Ala227=) c.618A>C (p.Ala206=) c.-130A>C (n.-130A>C) c.636A>C (p.Ala212=) c.678A>C (p.Ala226=) c.*767A>C (n.*767A>C) c.*633A>C (n.*633A>C) c.670+1074A>C (n.670+1074A>C) c.110A>C c.*542A>C (n.*542A>C) c.356A>C c.381A>C (p.Ala127=) c.384A>C (p.Ala128=) c.*695A>C (n.*695A>C) c.4+30410A>C (n.4+30410A>C) c.-43-20251A>C (n.-43-20251A>C) c.-99+30499A>C (n.-99+30499A>C) n.895A>C n.936A>C | ClinVar |
| 17 | g.43094772T= | CA2260785262 | BRCA1 | n.823A= c.759A= (p.Ala253=) c.633A= (p.Ala211=) c.756A= (p.Ala252=) c.681A= (p.Ala227=) c.618A= (p.Ala206=) c.-130A= (n.-130A=) c.636A= (p.Ala212=) c.678A= (p.Ala226=) c.*767A= (n.*767A=) c.*633A= (n.*633A=) c.670+1074A= (n.670+1074A=) c.110A= c.*542A= (n.*542A=) c.356A= c.381A= (p.Ala127=) c.384A= (p.Ala128=) c.*695A= (n.*695A=) c.4+30410A= (n.4+30410A=) c.-43-20251A= (n.-43-20251A=) c.-99+30499A= (n.-99+30499A=) n.895A= n.936A= | |
| 17 | g.43094773G>A | CA10600566 | BRCA1 | n.822C>T c.758C>T (p.Ala253Val) c.632C>T (p.Ala211Val) c.755C>T (p.Ala252Val) c.680C>T (p.Ala227Val) c.617C>T (p.Ala206Val) c.-131C>T (n.-131C>T) c.635C>T (p.Ala212Val) c.677C>T (p.Ala226Val) c.*766C>T (n.*766C>T) c.*632C>T (n.*632C>T) c.670+1073C>T (n.670+1073C>T) c.109C>T c.*541C>T (n.*541C>T) c.355C>T c.380C>T (p.Ala127Val) c.383C>T (p.Ala128Val) c.*694C>T (n.*694C>T) c.4+30409C>T (n.4+30409C>T) c.-43-20252C>T (n.-43-20252C>T) c.-99+30498C>T (n.-99+30498C>T) n.894C>T n.935C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094773G>C | CA10600567 | BRCA1 | n.822C>G c.758C>G (p.Ala253Gly) c.632C>G (p.Ala211Gly) c.755C>G (p.Ala252Gly) c.680C>G (p.Ala227Gly) c.617C>G (p.Ala206Gly) c.-131C>G (n.-131C>G) c.635C>G (p.Ala212Gly) c.677C>G (p.Ala226Gly) c.*766C>G (n.*766C>G) c.*632C>G (n.*632C>G) c.670+1073C>G (n.670+1073C>G) c.109C>G c.*541C>G (n.*541C>G) c.355C>G c.380C>G (p.Ala127Gly) c.383C>G (p.Ala128Gly) c.*694C>G (n.*694C>G) c.4+30409C>G (n.4+30409C>G) c.-43-20252C>G (n.-43-20252C>G) c.-99+30498C>G (n.-99+30498C>G) n.894C>G n.935C>G | dbSNP |
| 17 | g.43094773G= | CA2260785263 | BRCA1 | n.822C= c.758C= (p.Ala253=) c.632C= (p.Ala211=) c.755C= (p.Ala252=) c.680C= (p.Ala227=) c.617C= (p.Ala206=) c.-131C= (n.-131C=) c.635C= (p.Ala212=) c.677C= (p.Ala226=) c.*766C= (n.*766C=) c.*632C= (n.*632C=) c.670+1073C= (n.670+1073C=) c.109C= c.*541C= (n.*541C=) c.355C= c.380C= (p.Ala127=) c.383C= (p.Ala128=) c.*694C= (n.*694C=) c.4+30409C= (n.4+30409C=) c.-43-20252C= (n.-43-20252C=) c.-99+30498C= (n.-99+30498C=) n.894C= n.935C= | |
| 17 | g.43094773G>T | CA10600568 | BRCA1 | n.822C>A c.758C>A (p.Ala253Glu) c.632C>A (p.Ala211Glu) c.755C>A (p.Ala252Glu) c.680C>A (p.Ala227Glu) c.617C>A (p.Ala206Glu) c.-131C>A (n.-131C>A) c.635C>A (p.Ala212Glu) c.677C>A (p.Ala226Glu) c.*766C>A (n.*766C>A) c.*632C>A (n.*632C>A) c.670+1073C>A (n.670+1073C>A) c.109C>A c.*541C>A (n.*541C>A) c.355C>A c.380C>A (p.Ala127Glu) c.383C>A (p.Ala128Glu) c.*694C>A (n.*694C>A) c.4+30409C>A (n.4+30409C>A) c.-43-20252C>A (n.-43-20252C>A) c.-99+30498C>A (n.-99+30498C>A) n.894C>A n.935C>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094774C>A | CA10600569 | BRCA1 | n.821G>T c.757G>T (p.Ala253Ser) c.631G>T (p.Ala211Ser) c.754G>T (p.Ala252Ser) c.679G>T (p.Ala227Ser) c.616G>T (p.Ala206Ser) c.-132G>T (n.-132G>T) c.634G>T (p.Ala212Ser) c.676G>T (p.Ala226Ser) c.*765G>T (n.*765G>T) c.*631G>T (n.*631G>T) c.670+1072G>T (n.670+1072G>T) c.108G>T c.*540G>T (n.*540G>T) c.354G>T c.379G>T (p.Ala127Ser) c.382G>T (p.Ala128Ser) c.*693G>T (n.*693G>T) c.4+30408G>T (n.4+30408G>T) c.-43-20253G>T (n.-43-20253G>T) c.-99+30497G>T (n.-99+30497G>T) n.893G>T n.934G>T | dbSNP |
| 17 | g.43094774C= | CA2260785264 | BRCA1 | n.821G= c.757G= (p.Ala253=) c.631G= (p.Ala211=) c.754G= (p.Ala252=) c.679G= (p.Ala227=) c.616G= (p.Ala206=) c.-132G= (n.-132G=) c.634G= (p.Ala212=) c.676G= (p.Ala226=) c.*765G= (n.*765G=) c.*631G= (n.*631G=) c.670+1072G= (n.670+1072G=) c.108G= c.*540G= (n.*540G=) c.354G= c.379G= (p.Ala127=) c.382G= (p.Ala128=) c.*693G= (n.*693G=) c.4+30408G= (n.4+30408G=) c.-43-20253G= (n.-43-20253G=) c.-99+30497G= (n.-99+30497G=) n.893G= n.934G= | |
| 17 | g.43094774C>G | CA10600570 | BRCA1 | n.821G>C c.757G>C (p.Ala253Pro) c.631G>C (p.Ala211Pro) c.754G>C (p.Ala252Pro) c.679G>C (p.Ala227Pro) c.616G>C (p.Ala206Pro) c.-132G>C (n.-132G>C) c.634G>C (p.Ala212Pro) c.676G>C (p.Ala226Pro) c.*765G>C (n.*765G>C) c.*631G>C (n.*631G>C) c.670+1072G>C (n.670+1072G>C) c.108G>C c.*540G>C (n.*540G>C) c.354G>C c.379G>C (p.Ala127Pro) c.382G>C (p.Ala128Pro) c.*693G>C (n.*693G>C) c.4+30408G>C (n.4+30408G>C) c.-43-20253G>C (n.-43-20253G>C) c.-99+30497G>C (n.-99+30497G>C) n.893G>C n.934G>C | dbSNP |
| 17 | g.43094774C>T | CA003852 | BRCA1 | n.821G>A c.757G>A (p.Ala253Thr) c.631G>A (p.Ala211Thr) c.754G>A (p.Ala252Thr) c.679G>A (p.Ala227Thr) c.616G>A (p.Ala206Thr) c.-132G>A (n.-132G>A) c.634G>A (p.Ala212Thr) c.676G>A (p.Ala226Thr) c.*765G>A (n.*765G>A) c.*631G>A (n.*631G>A) c.670+1072G>A (n.670+1072G>A) c.108G>A c.*540G>A (n.*540G>A) c.354G>A c.379G>A (p.Ala127Thr) c.382G>A (p.Ala128Thr) c.*693G>A (n.*693G>A) c.4+30408G>A (n.4+30408G>A) c.-43-20253G>A (n.-43-20253G>A) c.-99+30497G>A (n.-99+30497G>A) n.893G>A n.934G>A | ClinVar dbSNP |
| 17 | g.43094775A= | CA2260785265 | BRCA1 | n.820T= c.756T= (p.Arg252=) c.630T= (p.Arg210=) c.753T= (p.Arg251=) c.678T= (p.Arg226=) c.615T= (p.Arg205=) c.-133T= (n.-133T=) c.633T= (p.Arg211=) c.675T= (p.Arg225=) c.*764T= (n.*764T=) c.*630T= (n.*630T=) c.670+1071T= (n.670+1071T=) c.107T= c.*539T= (n.*539T=) c.353T= c.378T= (p.Arg126=) c.381T= (p.Arg127=) c.*692T= (n.*692T=) c.4+30407T= (n.4+30407T=) c.-43-20254T= (n.-43-20254T=) c.-99+30496T= (n.-99+30496T=) n.892T= n.933T= | |
| 17 | g.43094775A>C | CA500233518 | BRCA1 | n.820T>G c.756T>G (p.Arg252=) c.630T>G (p.Arg210=) c.753T>G (p.Arg251=) c.678T>G (p.Arg226=) c.615T>G (p.Arg205=) c.-133T>G (n.-133T>G) c.633T>G (p.Arg211=) c.675T>G (p.Arg225=) c.*764T>G (n.*764T>G) c.*630T>G (n.*630T>G) c.670+1071T>G (n.670+1071T>G) c.107T>G c.*539T>G (n.*539T>G) c.353T>G c.378T>G (p.Arg126=) c.381T>G (p.Arg127=) c.*692T>G (n.*692T>G) c.4+30407T>G (n.4+30407T>G) c.-43-20254T>G (n.-43-20254T>G) c.-99+30496T>G (n.-99+30496T>G) n.892T>G n.933T>G | dbSNP |
| 17 | g.43094775A>G | CA003851 | BRCA1 | n.820T>C c.756T>C (p.Arg252=) c.630T>C (p.Arg210=) c.753T>C (p.Arg251=) c.678T>C (p.Arg226=) c.615T>C (p.Arg205=) c.-133T>C (n.-133T>C) c.633T>C (p.Arg211=) c.675T>C (p.Arg225=) c.*764T>C (n.*764T>C) c.*630T>C (n.*630T>C) c.670+1071T>C (n.670+1071T>C) c.107T>C c.*539T>C (n.*539T>C) c.353T>C c.378T>C (p.Arg126=) c.381T>C (p.Arg127=) c.*692T>C (n.*692T>C) c.4+30407T>C (n.4+30407T>C) c.-43-20254T>C (n.-43-20254T>C) c.-99+30496T>C (n.-99+30496T>C) n.892T>C n.933T>C | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094775A>T | CA500233521 | BRCA1 | n.820T>A c.756T>A (p.Arg252=) c.630T>A (p.Arg210=) c.753T>A (p.Arg251=) c.678T>A (p.Arg226=) c.615T>A (p.Arg205=) c.-133T>A (n.-133T>A) c.633T>A (p.Arg211=) c.675T>A (p.Arg225=) c.*764T>A (n.*764T>A) c.*630T>A (n.*630T>A) c.670+1071T>A (n.670+1071T>A) c.107T>A c.*539T>A (n.*539T>A) c.353T>A c.378T>A (p.Arg126=) c.381T>A (p.Arg127=) c.*692T>A (n.*692T>A) c.4+30407T>A (n.4+30407T>A) c.-43-20254T>A (n.-43-20254T>A) c.-99+30496T>A (n.-99+30496T>A) n.892T>A n.933T>A | ClinVar dbSNP |
| 17 | g.43094776C>A | CA10600571 | BRCA1 | n.819G>T c.755G>T (p.Arg252Leu) c.629G>T (p.Arg210Leu) c.752G>T (p.Arg251Leu) c.677G>T (p.Arg226Leu) c.614G>T (p.Arg205Leu) c.-134G>T (n.-134G>T) c.632G>T (p.Arg211Leu) c.674G>T (p.Arg225Leu) c.*763G>T (n.*763G>T) c.*629G>T (n.*629G>T) c.670+1070G>T (n.670+1070G>T) c.106G>T c.*538G>T (n.*538G>T) c.352G>T c.377G>T (p.Arg126Leu) c.380G>T (p.Arg127Leu) c.*691G>T (n.*691G>T) c.4+30406G>T (n.4+30406G>T) c.-43-20255G>T (n.-43-20255G>T) c.-99+30495G>T (n.-99+30495G>T) n.891G>T n.932G>T | |
| 17 | g.43094776C= | CA2260785266 | BRCA1 | n.819G= c.755G= (p.Arg252=) c.629G= (p.Arg210=) c.752G= (p.Arg251=) c.677G= (p.Arg226=) c.614G= (p.Arg205=) c.-134G= (n.-134G=) c.632G= (p.Arg211=) c.674G= (p.Arg225=) c.*763G= (n.*763G=) c.*629G= (n.*629G=) c.670+1070G= (n.670+1070G=) c.106G= c.*538G= (n.*538G=) c.352G= c.377G= (p.Arg126=) c.380G= (p.Arg127=) c.*691G= (n.*691G=) c.4+30406G= (n.4+30406G=) c.-43-20255G= (n.-43-20255G=) c.-99+30495G= (n.-99+30495G=) n.891G= n.932G= | |
| 17 | g.43094776C>G | CA10600572 | BRCA1 | n.819G>C c.755G>C (p.Arg252Pro) c.629G>C (p.Arg210Pro) c.752G>C (p.Arg251Pro) c.677G>C (p.Arg226Pro) c.614G>C (p.Arg205Pro) c.-134G>C (n.-134G>C) c.632G>C (p.Arg211Pro) c.674G>C (p.Arg225Pro) c.*763G>C (n.*763G>C) c.*629G>C (n.*629G>C) c.670+1070G>C (n.670+1070G>C) c.106G>C c.*538G>C (n.*538G>C) c.352G>C c.377G>C (p.Arg126Pro) c.380G>C (p.Arg127Pro) c.*691G>C (n.*691G>C) c.4+30406G>C (n.4+30406G>C) c.-43-20255G>C (n.-43-20255G>C) c.-99+30495G>C (n.-99+30495G>C) n.891G>C n.932G>C | dbSNP gnomAD v4 |
| 17 | g.43094776C>T | CA003849 | BRCA1 | n.819G>A c.755G>A (p.Arg252His) c.629G>A (p.Arg210His) c.752G>A (p.Arg251His) c.677G>A (p.Arg226His) c.614G>A (p.Arg205His) c.-134G>A (n.-134G>A) c.632G>A (p.Arg211His) c.674G>A (p.Arg225His) c.*763G>A (n.*763G>A) c.*629G>A (n.*629G>A) c.670+1070G>A (n.670+1070G>A) c.106G>A c.*538G>A (n.*538G>A) c.352G>A c.377G>A (p.Arg126His) c.380G>A (p.Arg127His) c.*691G>A (n.*691G>A) c.4+30406G>A (n.4+30406G>A) c.-43-20255G>A (n.-43-20255G>A) c.-99+30495G>A (n.-99+30495G>A) n.891G>A n.932G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43094776_43094777delinsCG | CA2260785267 | BRCA1 | n.818_819delinsCG c.754_755delinsCG (p.Arg252=) c.628_629delinsCG (p.Arg210=) c.751_752delinsCG (p.Arg251=) c.676_677delinsCG (p.Arg226=) c.613_614delinsCG (p.Arg205=) c.-135_-134delinsCG (n.-135_-134delinsCG) c.631_632delinsCG (p.Arg211=) c.673_674delinsCG (p.Arg225=) c.*762_*763delinsCG (n.*762_*763delinsCG) c.*628_*629delinsCG (n.*628_*629delinsCG) c.670+1069_670+1070delinsCG (n.670+1069_670+1070delinsCG) c.105_106delinsCG c.*537_*538delinsCG (n.*537_*538delinsCG) c.351_352delinsCG c.376_377delinsCG (p.Arg126=) c.379_380delinsCG (p.Arg127=) c.*690_*691delinsCG (n.*690_*691delinsCG) c.4+30405_4+30406delinsCG (n.4+30405_4+30406delinsCG) c.-43-20256_-43-20255delinsCG (n.-43-20256_-43-20255delinsCG) c.-99+30494_-99+30495delinsCG (n.-99+30494_-99+30495delinsCG) n.890_891delinsCG n.931_932delinsCG |