Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43084852_43094147del | CA645369660 | BRCA1 | c.1385_4186-2276del c.1259_4060-2276del c.1382_4183-2279del c.1307_4108-2276del c.784+598_874-2276del c.646+598_736-2276del c.497_3298-2276del c.1262_4063-2276del c.1244_4045-2276del c.664+598_754-2279del c.706+598_796-2276del c.670+1700_760-2276del c.*1168_*3969-2276del c.787+598_877-2276del c.409+598_499-2276del c.412+598_502-2276del c.5-30195_5-20900del (n.5-30195_5-20900del) c.-43-19625_-43-10330del (n.-43-19625_-43-10330del) c.-99+31125_-98-34661del (n.-99+31125_-98-34661del) n.1521_4322-2276del n.1562_4363-2276del | ClinVar |
17 | g.43090874_43091110delinsGTGGGATACATACTACTGAATGCAAAGGACACCACACACACGCATGTGCACACACACACACGCTTTTTACCTGAGTGGTTAAAATGTCACTCTGAGAGGATAGCCCTGAGCAGTCTTCAGAGACGCTTGTTTCACTCTCACACCCAGATGCTGCTTCACCTTAAATAACAAAAACAGAGGTTCAGATGTAAAAGCAGACTATAAACGCTGCAACTTGCTGTGTCTTTTTCTTCTCAT | CA2260781584 | BRCA1 | c.4097-78_4185+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.3971-78_4059+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.4094-78_4182+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.4019-78_4107+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.785-78_873+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.647-78_735+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.3209-78_3297+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.3974-78_4062+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.3956-78_4044+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.665-78_753+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.707-78_795+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.418-78_506+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.671-78_759+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.*3880-78_*3968+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.391-78_479+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.788-78_876+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.410-78_498+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.413-78_501+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC c.5-27159_5-26923delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC (n.5-27159_5-26923delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC) c.-43-16589_-43-16353delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC (n.-43-16589_-43-16353delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC) c.-99+34161_-99+34397delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC (n.-99+34161_-99+34397delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC) n.4233-78_4321+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC n.4274-78_4362+70delinsATGAGAAGAAAAAGACACAGCAAGTTGCAGCGTTTATAGTCTGCTTTTACATCTGAACCTCTGTTTTTGTTATTTAAGGTGAAGCAGCATCTGGGTGTGAGAGTGAAACAAGCGTCTCTGAAGACTGCTCAGGGCTATCCTCTCAGAGTGACATTTTAACCACTCAGGTAAAAAGCGTGTGTGTGTGTGCACATGCGTGTGTGTGGTGTCCTTTGCATTCAGTAGTATGTATCCCAC | |
17 | g.43090878_43091113del | CA10602594 | BRCA1 | c.4097-78_4185+69del c.3971-78_4059+69del c.4094-78_4182+69del c.4019-78_4107+69del c.785-78_873+69del c.647-78_735+69del c.3209-78_3297+69del c.3974-78_4062+69del c.3956-78_4044+69del c.665-78_753+69del c.707-78_795+69del c.418-78_506+69del c.671-78_759+69del c.*3880-78_*3968+69del c.391-78_479+69del c.788-78_876+69del c.410-78_498+69del c.413-78_501+69del c.5-27159_5-26924del (n.5-27159_5-26924del) c.-43-16589_-43-16354del (n.-43-16589_-43-16354del) c.-99+34161_-99+34396del (n.-99+34161_-99+34396del) n.4233-78_4321+69del n.4274-78_4362+69del | ClinVar dbSNP |
17 | g.43090905_43090923delinsCCACACACACGCATGTGCA | CA2260781596 | BRCA1 | c.4185+21_4185+39delinsTGCACATGCGTGTGTGTGG (n.4185+21_4185+39delinsTGCACATGCGTGTGTGTGG) c.4059+21_4059+39delinsTGCACATGCGTGTGTGTGG (n.4059+21_4059+39delinsTGCACATGCGTGTGTGTGG) c.4182+21_4182+39delinsTGCACATGCGTGTGTGTGG (n.4182+21_4182+39delinsTGCACATGCGTGTGTGTGG) c.4107+21_4107+39delinsTGCACATGCGTGTGTGTGG (n.4107+21_4107+39delinsTGCACATGCGTGTGTGTGG) c.873+21_873+39delinsTGCACATGCGTGTGTGTGG (n.873+21_873+39delinsTGCACATGCGTGTGTGTGG) c.735+21_735+39delinsTGCACATGCGTGTGTGTGG (n.735+21_735+39delinsTGCACATGCGTGTGTGTGG) c.3297+21_3297+39delinsTGCACATGCGTGTGTGTGG (n.3297+21_3297+39delinsTGCACATGCGTGTGTGTGG) c.4062+21_4062+39delinsTGCACATGCGTGTGTGTGG (n.4062+21_4062+39delinsTGCACATGCGTGTGTGTGG) c.4044+21_4044+39delinsTGCACATGCGTGTGTGTGG (n.4044+21_4044+39delinsTGCACATGCGTGTGTGTGG) c.753+21_753+39delinsTGCACATGCGTGTGTGTGG (n.753+21_753+39delinsTGCACATGCGTGTGTGTGG) c.795+21_795+39delinsTGCACATGCGTGTGTGTGG (n.795+21_795+39delinsTGCACATGCGTGTGTGTGG) c.506+21_506+39delinsTGCACATGCGTGTGTGTGG c.759+21_759+39delinsTGCACATGCGTGTGTGTGG (n.759+21_759+39delinsTGCACATGCGTGTGTGTGG) c.*3968+21_*3968+39delinsTGCACATGCGTGTGTGTGG (n.*3968+21_*3968+39delinsTGCACATGCGTGTGTGTGG) c.479+21_479+39delinsTGCACATGCGTGTGTGTGG c.876+21_876+39delinsTGCACATGCGTGTGTGTGG (n.876+21_876+39delinsTGCACATGCGTGTGTGTGG) c.498+21_498+39delinsTGCACATGCGTGTGTGTGG (n.498+21_498+39delinsTGCACATGCGTGTGTGTGG) c.501+21_501+39delinsTGCACATGCGTGTGTGTGG (n.501+21_501+39delinsTGCACATGCGTGTGTGTGG) c.5-26972_5-26954delinsTGCACATGCGTGTGTGTGG (n.5-26972_5-26954delinsTGCACATGCGTGTGTGTGG) c.-43-16402_-43-16384delinsTGCACATGCGTGTGTGTGG (n.-43-16402_-43-16384delinsTGCACATGCGTGTGTGTGG) c.-99+34348_-99+34366delinsTGCACATGCGTGTGTGTGG (n.-99+34348_-99+34366delinsTGCACATGCGTGTGTGTGG) n.4321+21_4321+39delinsTGCACATGCGTGTGTGTGG n.4362+21_4362+39delinsTGCACATGCGTGTGTGTGG | |
17 | g.43090905_43090925delinsCCACACACACGCATGTGCACA | CA2260781598 | BRCA1 | c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG (n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG) c.4059+19_4059+39delinsTGTGCACATGCGTGTGTGTGG (n.4059+19_4059+39delinsTGTGCACATGCGTGTGTGTGG) c.4182+19_4182+39delinsTGTGCACATGCGTGTGTGTGG (n.4182+19_4182+39delinsTGTGCACATGCGTGTGTGTGG) c.4107+19_4107+39delinsTGTGCACATGCGTGTGTGTGG (n.4107+19_4107+39delinsTGTGCACATGCGTGTGTGTGG) c.873+19_873+39delinsTGTGCACATGCGTGTGTGTGG (n.873+19_873+39delinsTGTGCACATGCGTGTGTGTGG) c.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG (n.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG) c.3297+19_3297+39delinsTGTGCACATGCGTGTGTGTGG (n.3297+19_3297+39delinsTGTGCACATGCGTGTGTGTGG) c.4062+19_4062+39delinsTGTGCACATGCGTGTGTGTGG (n.4062+19_4062+39delinsTGTGCACATGCGTGTGTGTGG) c.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG (n.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG) c.753+19_753+39delinsTGTGCACATGCGTGTGTGTGG (n.753+19_753+39delinsTGTGCACATGCGTGTGTGTGG) c.795+19_795+39delinsTGTGCACATGCGTGTGTGTGG (n.795+19_795+39delinsTGTGCACATGCGTGTGTGTGG) c.506+19_506+39delinsTGTGCACATGCGTGTGTGTGG c.759+19_759+39delinsTGTGCACATGCGTGTGTGTGG (n.759+19_759+39delinsTGTGCACATGCGTGTGTGTGG) c.*3968+19_*3968+39delinsTGTGCACATGCGTGTGTGTGG (n.*3968+19_*3968+39delinsTGTGCACATGCGTGTGTGTGG) c.479+19_479+39delinsTGTGCACATGCGTGTGTGTGG c.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG (n.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG) c.498+19_498+39delinsTGTGCACATGCGTGTGTGTGG (n.498+19_498+39delinsTGTGCACATGCGTGTGTGTGG) c.501+19_501+39delinsTGTGCACATGCGTGTGTGTGG (n.501+19_501+39delinsTGTGCACATGCGTGTGTGTGG) c.5-26974_5-26954delinsTGTGCACATGCGTGTGTGTGG (n.5-26974_5-26954delinsTGTGCACATGCGTGTGTGTGG) c.-43-16404_-43-16384delinsTGTGCACATGCGTGTGTGTGG (n.-43-16404_-43-16384delinsTGTGCACATGCGTGTGTGTGG) c.-99+34346_-99+34366delinsTGTGCACATGCGTGTGTGTGG (n.-99+34346_-99+34366delinsTGTGCACATGCGTGTGTGTGG) n.4321+19_4321+39delinsTGTGCACATGCGTGTGTGTGG n.4362+19_4362+39delinsTGTGCACATGCGTGTGTGTGG | |
17 | g.43090913_43090914dup | CA626075626 | BRCA1 | c.4185+37_4185+38dup (n.4185+37_4185+38dup) c.4059+37_4059+38dup (n.4059+37_4059+38dup) c.4182+37_4182+38dup (n.4182+37_4182+38dup) c.4107+37_4107+38dup (n.4107+37_4107+38dup) c.873+37_873+38dup (n.873+37_873+38dup) c.735+37_735+38dup (n.735+37_735+38dup) c.3297+37_3297+38dup (n.3297+37_3297+38dup) c.4062+37_4062+38dup (n.4062+37_4062+38dup) c.4044+37_4044+38dup (n.4044+37_4044+38dup) c.753+37_753+38dup (n.753+37_753+38dup) c.795+37_795+38dup (n.795+37_795+38dup) c.506+37_506+38dup c.759+37_759+38dup (n.759+37_759+38dup) c.*3968+37_*3968+38dup (n.*3968+37_*3968+38dup) c.479+37_479+38dup c.876+37_876+38dup (n.876+37_876+38dup) c.498+37_498+38dup (n.498+37_498+38dup) c.501+37_501+38dup (n.501+37_501+38dup) c.5-26956_5-26955dup (n.5-26956_5-26955dup) c.-43-16386_-43-16385dup (n.-43-16386_-43-16385dup) c.-99+34364_-99+34365dup (n.-99+34364_-99+34365dup) n.4321+37_4321+38dup n.4362+37_4362+38dup | gnomAD v2 |
17 | g.43090913_43090914del | CA8589946 | BRCA1 | c.4185+37_4185+38del (n.4185+37_4185+38del) c.4059+37_4059+38del (n.4059+37_4059+38del) c.4182+37_4182+38del (n.4182+37_4182+38del) c.4107+37_4107+38del (n.4107+37_4107+38del) c.873+37_873+38del (n.873+37_873+38del) c.735+37_735+38del (n.735+37_735+38del) c.3297+37_3297+38del (n.3297+37_3297+38del) c.4062+37_4062+38del (n.4062+37_4062+38del) c.4044+37_4044+38del (n.4044+37_4044+38del) c.753+37_753+38del (n.753+37_753+38del) c.795+37_795+38del (n.795+37_795+38del) c.506+37_506+38del c.759+37_759+38del (n.759+37_759+38del) c.*3968+37_*3968+38del (n.*3968+37_*3968+38del) c.479+37_479+38del c.876+37_876+38del (n.876+37_876+38del) c.498+37_498+38del (n.498+37_498+38del) c.501+37_501+38del (n.501+37_501+38del) c.5-26956_5-26955del (n.5-26956_5-26955del) c.-43-16386_-43-16385del (n.-43-16386_-43-16385del) c.-99+34364_-99+34365del (n.-99+34364_-99+34365del) n.4321+37_4321+38del n.4362+37_4362+38del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090915_43090930dup | CA772185070 | BRCA1 | c.4185+23_4185+38dup (n.4185+23_4185+38dup) c.4059+23_4059+38dup (n.4059+23_4059+38dup) c.4182+23_4182+38dup (n.4182+23_4182+38dup) c.4107+23_4107+38dup (n.4107+23_4107+38dup) c.873+23_873+38dup (n.873+23_873+38dup) c.735+23_735+38dup (n.735+23_735+38dup) c.3297+23_3297+38dup (n.3297+23_3297+38dup) c.4062+23_4062+38dup (n.4062+23_4062+38dup) c.4044+23_4044+38dup (n.4044+23_4044+38dup) c.753+23_753+38dup (n.753+23_753+38dup) c.795+23_795+38dup (n.795+23_795+38dup) c.506+23_506+38dup c.759+23_759+38dup (n.759+23_759+38dup) c.*3968+23_*3968+38dup (n.*3968+23_*3968+38dup) c.479+23_479+38dup c.876+23_876+38dup (n.876+23_876+38dup) c.498+23_498+38dup (n.498+23_498+38dup) c.501+23_501+38dup (n.501+23_501+38dup) c.5-26970_5-26955dup (n.5-26970_5-26955dup) c.-43-16400_-43-16385dup (n.-43-16400_-43-16385dup) c.-99+34350_-99+34365dup (n.-99+34350_-99+34365dup) n.4321+23_4321+38dup n.4362+23_4362+38dup | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43090915_43090932del | CA059554 | BRCA1 | c.4185+21_4185+38del (n.4185+21_4185+38del) c.4059+21_4059+38del (n.4059+21_4059+38del) c.4182+21_4182+38del (n.4182+21_4182+38del) c.4107+21_4107+38del (n.4107+21_4107+38del) c.873+21_873+38del (n.873+21_873+38del) c.735+21_735+38del (n.735+21_735+38del) c.3297+21_3297+38del (n.3297+21_3297+38del) c.4062+21_4062+38del (n.4062+21_4062+38del) c.4044+21_4044+38del (n.4044+21_4044+38del) c.753+21_753+38del (n.753+21_753+38del) c.795+21_795+38del (n.795+21_795+38del) c.506+21_506+38del c.759+21_759+38del (n.759+21_759+38del) c.*3968+21_*3968+38del (n.*3968+21_*3968+38del) c.479+21_479+38del c.876+21_876+38del (n.876+21_876+38del) c.498+21_498+38del (n.498+21_498+38del) c.501+21_501+38del (n.501+21_501+38del) c.5-26972_5-26955del (n.5-26972_5-26955del) c.-43-16402_-43-16385del (n.-43-16402_-43-16385del) c.-99+34348_-99+34365del (n.-99+34348_-99+34365del) n.4321+21_4321+38del n.4362+21_4362+38del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090917_43090936dup | CA2638063785 | BRCA1 | c.4185+19_4185+38dup (n.4185+19_4185+38dup) c.4059+19_4059+38dup (n.4059+19_4059+38dup) c.4182+19_4182+38dup (n.4182+19_4182+38dup) c.4107+19_4107+38dup (n.4107+19_4107+38dup) c.873+19_873+38dup (n.873+19_873+38dup) c.735+19_735+38dup (n.735+19_735+38dup) c.3297+19_3297+38dup (n.3297+19_3297+38dup) c.4062+19_4062+38dup (n.4062+19_4062+38dup) c.4044+19_4044+38dup (n.4044+19_4044+38dup) c.753+19_753+38dup (n.753+19_753+38dup) c.795+19_795+38dup (n.795+19_795+38dup) c.506+19_506+38dup c.759+19_759+38dup (n.759+19_759+38dup) c.*3968+19_*3968+38dup (n.*3968+19_*3968+38dup) c.479+19_479+38dup c.876+19_876+38dup (n.876+19_876+38dup) c.498+19_498+38dup (n.498+19_498+38dup) c.501+19_501+38dup (n.501+19_501+38dup) c.5-26974_5-26955dup (n.5-26974_5-26955dup) c.-43-16404_-43-16385dup (n.-43-16404_-43-16385dup) c.-99+34346_-99+34365dup (n.-99+34346_-99+34365dup) n.4321+19_4321+38dup n.4362+19_4362+38dup | gnomAD v4 |
17 | g.43090917_43090936del | CA913203405 | BRCA1 | c.4185+19_4185+38del (n.4185+19_4185+38del) c.4059+19_4059+38del (n.4059+19_4059+38del) c.4182+19_4182+38del (n.4182+19_4182+38del) c.4107+19_4107+38del (n.4107+19_4107+38del) c.873+19_873+38del (n.873+19_873+38del) c.735+19_735+38del (n.735+19_735+38del) c.3297+19_3297+38del (n.3297+19_3297+38del) c.4062+19_4062+38del (n.4062+19_4062+38del) c.4044+19_4044+38del (n.4044+19_4044+38del) c.753+19_753+38del (n.753+19_753+38del) c.795+19_795+38del (n.795+19_795+38del) c.506+19_506+38del c.759+19_759+38del (n.759+19_759+38del) c.*3968+19_*3968+38del (n.*3968+19_*3968+38del) c.479+19_479+38del c.876+19_876+38del (n.876+19_876+38del) c.498+19_498+38del (n.498+19_498+38del) c.501+19_501+38del (n.501+19_501+38del) c.5-26974_5-26955del (n.5-26974_5-26955del) c.-43-16404_-43-16385del (n.-43-16404_-43-16385del) c.-99+34346_-99+34365del (n.-99+34346_-99+34365del) n.4321+19_4321+38del n.4362+19_4362+38del | ClinVar dbSNP gnomAD v4 |
17 | g.43090912C>A | CA2733661270 | BRCA1 | c.4185+32G>T (n.4185+32G>T) c.4059+32G>T (n.4059+32G>T) c.4182+32G>T (n.4182+32G>T) c.4107+32G>T (n.4107+32G>T) c.873+32G>T (n.873+32G>T) c.735+32G>T (n.735+32G>T) c.3297+32G>T (n.3297+32G>T) c.4062+32G>T (n.4062+32G>T) c.4044+32G>T (n.4044+32G>T) c.753+32G>T (n.753+32G>T) c.795+32G>T (n.795+32G>T) c.506+32G>T c.759+32G>T (n.759+32G>T) c.*3968+32G>T (n.*3968+32G>T) c.479+32G>T c.876+32G>T (n.876+32G>T) c.498+32G>T (n.498+32G>T) c.501+32G>T (n.501+32G>T) c.5-26961G>T (n.5-26961G>T) c.-43-16391G>T (n.-43-16391G>T) c.-99+34359G>T (n.-99+34359G>T) n.4321+32G>T n.4362+32G>T | dbSNP |
17 | g.43090912C= | CA2260781600 | BRCA1 | c.4185+32G= (n.4185+32G=) c.4059+32G= (n.4059+32G=) c.4182+32G= (n.4182+32G=) c.4107+32G= (n.4107+32G=) c.873+32G= (n.873+32G=) c.735+32G= (n.735+32G=) c.3297+32G= (n.3297+32G=) c.4062+32G= (n.4062+32G=) c.4044+32G= (n.4044+32G=) c.753+32G= (n.753+32G=) c.795+32G= (n.795+32G=) c.506+32G= c.759+32G= (n.759+32G=) c.*3968+32G= (n.*3968+32G=) c.479+32G= c.876+32G= (n.876+32G=) c.498+32G= (n.498+32G=) c.501+32G= (n.501+32G=) c.5-26961G= (n.5-26961G=) c.-43-16391G= (n.-43-16391G=) c.-99+34359G= (n.-99+34359G=) n.4321+32G= n.4362+32G= | |
17 | g.43090912C>G | CA626075628 | BRCA1 | c.4185+32G>C (n.4185+32G>C) c.4059+32G>C (n.4059+32G>C) c.4182+32G>C (n.4182+32G>C) c.4107+32G>C (n.4107+32G>C) c.873+32G>C (n.873+32G>C) c.735+32G>C (n.735+32G>C) c.3297+32G>C (n.3297+32G>C) c.4062+32G>C (n.4062+32G>C) c.4044+32G>C (n.4044+32G>C) c.753+32G>C (n.753+32G>C) c.795+32G>C (n.795+32G>C) c.506+32G>C c.759+32G>C (n.759+32G>C) c.*3968+32G>C (n.*3968+32G>C) c.479+32G>C c.876+32G>C (n.876+32G>C) c.498+32G>C (n.498+32G>C) c.501+32G>C (n.501+32G>C) c.5-26961G>C (n.5-26961G>C) c.-43-16391G>C (n.-43-16391G>C) c.-99+34359G>C (n.-99+34359G>C) n.4321+32G>C n.4362+32G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090912C>T | CA2260781601 | BRCA1 | c.4185+32G>A (n.4185+32G>A) c.4059+32G>A (n.4059+32G>A) c.4182+32G>A (n.4182+32G>A) c.4107+32G>A (n.4107+32G>A) c.873+32G>A (n.873+32G>A) c.735+32G>A (n.735+32G>A) c.3297+32G>A (n.3297+32G>A) c.4062+32G>A (n.4062+32G>A) c.4044+32G>A (n.4044+32G>A) c.753+32G>A (n.753+32G>A) c.795+32G>A (n.795+32G>A) c.506+32G>A c.759+32G>A (n.759+32G>A) c.*3968+32G>A (n.*3968+32G>A) c.479+32G>A c.876+32G>A (n.876+32G>A) c.498+32G>A (n.498+32G>A) c.501+32G>A (n.501+32G>A) c.5-26961G>A (n.5-26961G>A) c.-43-16391G>A (n.-43-16391G>A) c.-99+34359G>A (n.-99+34359G>A) n.4321+32G>A n.4362+32G>A | dbSNP gnomAD v4 |
17 | g.43090914C= | CA2260781602 | BRCA1 | c.4185+30G= (n.4185+30G=) c.4059+30G= (n.4059+30G=) c.4182+30G= (n.4182+30G=) c.4107+30G= (n.4107+30G=) c.873+30G= (n.873+30G=) c.735+30G= (n.735+30G=) c.3297+30G= (n.3297+30G=) c.4062+30G= (n.4062+30G=) c.4044+30G= (n.4044+30G=) c.753+30G= (n.753+30G=) c.795+30G= (n.795+30G=) c.506+30G= c.759+30G= (n.759+30G=) c.*3968+30G= (n.*3968+30G=) c.479+30G= c.876+30G= (n.876+30G=) c.498+30G= (n.498+30G=) c.501+30G= (n.501+30G=) c.5-26963G= (n.5-26963G=) c.-43-16393G= (n.-43-16393G=) c.-99+34357G= (n.-99+34357G=) n.4321+30G= n.4362+30G= | |
17 | g.43090914C>G | CA2733641852 | BRCA1 | c.4185+30G>C (n.4185+30G>C) c.4059+30G>C (n.4059+30G>C) c.4182+30G>C (n.4182+30G>C) c.4107+30G>C (n.4107+30G>C) c.873+30G>C (n.873+30G>C) c.735+30G>C (n.735+30G>C) c.3297+30G>C (n.3297+30G>C) c.4062+30G>C (n.4062+30G>C) c.4044+30G>C (n.4044+30G>C) c.753+30G>C (n.753+30G>C) c.795+30G>C (n.795+30G>C) c.506+30G>C c.759+30G>C (n.759+30G>C) c.*3968+30G>C (n.*3968+30G>C) c.479+30G>C c.876+30G>C (n.876+30G>C) c.498+30G>C (n.498+30G>C) c.501+30G>C (n.501+30G>C) c.5-26963G>C (n.5-26963G>C) c.-43-16393G>C (n.-43-16393G>C) c.-99+34357G>C (n.-99+34357G>C) n.4321+30G>C n.4362+30G>C | dbSNP |
17 | g.43090914C>T | CA002689 | BRCA1 | c.4185+30G>A (n.4185+30G>A) c.4059+30G>A (n.4059+30G>A) c.4182+30G>A (n.4182+30G>A) c.4107+30G>A (n.4107+30G>A) c.873+30G>A (n.873+30G>A) c.735+30G>A (n.735+30G>A) c.3297+30G>A (n.3297+30G>A) c.4062+30G>A (n.4062+30G>A) c.4044+30G>A (n.4044+30G>A) c.753+30G>A (n.753+30G>A) c.795+30G>A (n.795+30G>A) c.506+30G>A c.759+30G>A (n.759+30G>A) c.*3968+30G>A (n.*3968+30G>A) c.479+30G>A c.876+30G>A (n.876+30G>A) c.498+30G>A (n.498+30G>A) c.501+30G>A (n.501+30G>A) c.5-26963G>A (n.5-26963G>A) c.-43-16393G>A (n.-43-16393G>A) c.-99+34357G>A (n.-99+34357G>A) n.4321+30G>A n.4362+30G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090915_43090916del | CA2638063793 | BRCA1 | c.4185+29_4185+30del (n.4185+29_4185+30del) c.4059+29_4059+30del (n.4059+29_4059+30del) c.4182+29_4182+30del (n.4182+29_4182+30del) c.4107+29_4107+30del (n.4107+29_4107+30del) c.873+29_873+30del (n.873+29_873+30del) c.735+29_735+30del (n.735+29_735+30del) c.3297+29_3297+30del (n.3297+29_3297+30del) c.4062+29_4062+30del (n.4062+29_4062+30del) c.4044+29_4044+30del (n.4044+29_4044+30del) c.753+29_753+30del (n.753+29_753+30del) c.795+29_795+30del (n.795+29_795+30del) c.506+29_506+30del c.759+29_759+30del (n.759+29_759+30del) c.*3968+29_*3968+30del (n.*3968+29_*3968+30del) c.479+29_479+30del c.876+29_876+30del (n.876+29_876+30del) c.498+29_498+30del (n.498+29_498+30del) c.501+29_501+30del (n.501+29_501+30del) c.5-26964_5-26963del (n.5-26964_5-26963del) c.-43-16394_-43-16393del (n.-43-16394_-43-16393del) c.-99+34356_-99+34357del (n.-99+34356_-99+34357del) n.4321+29_4321+30del n.4362+29_4362+30del | gnomAD v4 |
17 | g.43090915G>A | CA002687 | BRCA1 | c.4185+29C>T (n.4185+29C>T) c.4059+29C>T (n.4059+29C>T) c.4182+29C>T (n.4182+29C>T) c.4107+29C>T (n.4107+29C>T) c.873+29C>T (n.873+29C>T) c.735+29C>T (n.735+29C>T) c.3297+29C>T (n.3297+29C>T) c.4062+29C>T (n.4062+29C>T) c.4044+29C>T (n.4044+29C>T) c.753+29C>T (n.753+29C>T) c.795+29C>T (n.795+29C>T) c.506+29C>T c.759+29C>T (n.759+29C>T) c.*3968+29C>T (n.*3968+29C>T) c.479+29C>T c.876+29C>T (n.876+29C>T) c.498+29C>T (n.498+29C>T) c.501+29C>T (n.501+29C>T) c.5-26964C>T (n.5-26964C>T) c.-43-16394C>T (n.-43-16394C>T) c.-99+34356C>T (n.-99+34356C>T) n.4321+29C>T n.4362+29C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090915G>C | CA983884056 | BRCA1 | c.4185+29C>G (n.4185+29C>G) c.4059+29C>G (n.4059+29C>G) c.4182+29C>G (n.4182+29C>G) c.4107+29C>G (n.4107+29C>G) c.873+29C>G (n.873+29C>G) c.735+29C>G (n.735+29C>G) c.3297+29C>G (n.3297+29C>G) c.4062+29C>G (n.4062+29C>G) c.4044+29C>G (n.4044+29C>G) c.753+29C>G (n.753+29C>G) c.795+29C>G (n.795+29C>G) c.506+29C>G c.759+29C>G (n.759+29C>G) c.*3968+29C>G (n.*3968+29C>G) c.479+29C>G c.876+29C>G (n.876+29C>G) c.498+29C>G (n.498+29C>G) c.501+29C>G (n.501+29C>G) c.5-26964C>G (n.5-26964C>G) c.-43-16394C>G (n.-43-16394C>G) c.-99+34356C>G (n.-99+34356C>G) n.4321+29C>G n.4362+29C>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43090915G= | CA2260781603 | BRCA1 | c.4185+29C= (n.4185+29C=) c.4059+29C= (n.4059+29C=) c.4182+29C= (n.4182+29C=) c.4107+29C= (n.4107+29C=) c.873+29C= (n.873+29C=) c.735+29C= (n.735+29C=) c.3297+29C= (n.3297+29C=) c.4062+29C= (n.4062+29C=) c.4044+29C= (n.4044+29C=) c.753+29C= (n.753+29C=) c.795+29C= (n.795+29C=) c.506+29C= c.759+29C= (n.759+29C=) c.*3968+29C= (n.*3968+29C=) c.479+29C= c.876+29C= (n.876+29C=) c.498+29C= (n.498+29C=) c.501+29C= (n.501+29C=) c.5-26964C= (n.5-26964C=) c.-43-16394C= (n.-43-16394C=) c.-99+34356C= (n.-99+34356C=) n.4321+29C= n.4362+29C= | |
17 | g.43090915G>T | CA2638063800 | BRCA1 | c.4185+29C>A (n.4185+29C>A) c.4059+29C>A (n.4059+29C>A) c.4182+29C>A (n.4182+29C>A) c.4107+29C>A (n.4107+29C>A) c.873+29C>A (n.873+29C>A) c.735+29C>A (n.735+29C>A) c.3297+29C>A (n.3297+29C>A) c.4062+29C>A (n.4062+29C>A) c.4044+29C>A (n.4044+29C>A) c.753+29C>A (n.753+29C>A) c.795+29C>A (n.795+29C>A) c.506+29C>A c.759+29C>A (n.759+29C>A) c.*3968+29C>A (n.*3968+29C>A) c.479+29C>A c.876+29C>A (n.876+29C>A) c.498+29C>A (n.498+29C>A) c.501+29C>A (n.501+29C>A) c.5-26964C>A (n.5-26964C>A) c.-43-16394C>A (n.-43-16394C>A) c.-99+34356C>A (n.-99+34356C>A) n.4321+29C>A n.4362+29C>A | dbSNP gnomAD v4 |
17 | g.43090916C>A | CA2733921436 | BRCA1 | c.4185+28G>T (n.4185+28G>T) c.4059+28G>T (n.4059+28G>T) c.4182+28G>T (n.4182+28G>T) c.4107+28G>T (n.4107+28G>T) c.873+28G>T (n.873+28G>T) c.735+28G>T (n.735+28G>T) c.3297+28G>T (n.3297+28G>T) c.4062+28G>T (n.4062+28G>T) c.4044+28G>T (n.4044+28G>T) c.753+28G>T (n.753+28G>T) c.795+28G>T (n.795+28G>T) c.506+28G>T c.759+28G>T (n.759+28G>T) c.*3968+28G>T (n.*3968+28G>T) c.479+28G>T c.876+28G>T (n.876+28G>T) c.498+28G>T (n.498+28G>T) c.501+28G>T (n.501+28G>T) c.5-26965G>T (n.5-26965G>T) c.-43-16395G>T (n.-43-16395G>T) c.-99+34355G>T (n.-99+34355G>T) n.4321+28G>T n.4362+28G>T | dbSNP |
17 | g.43090916C>G | CA2733921433 | BRCA1 | c.4185+28G>C (n.4185+28G>C) c.4059+28G>C (n.4059+28G>C) c.4182+28G>C (n.4182+28G>C) c.4107+28G>C (n.4107+28G>C) c.873+28G>C (n.873+28G>C) c.735+28G>C (n.735+28G>C) c.3297+28G>C (n.3297+28G>C) c.4062+28G>C (n.4062+28G>C) c.4044+28G>C (n.4044+28G>C) c.753+28G>C (n.753+28G>C) c.795+28G>C (n.795+28G>C) c.506+28G>C c.759+28G>C (n.759+28G>C) c.*3968+28G>C (n.*3968+28G>C) c.479+28G>C c.876+28G>C (n.876+28G>C) c.498+28G>C (n.498+28G>C) c.501+28G>C (n.501+28G>C) c.5-26965G>C (n.5-26965G>C) c.-43-16395G>C (n.-43-16395G>C) c.-99+34355G>C (n.-99+34355G>C) n.4321+28G>C n.4362+28G>C | dbSNP |
17 | g.43090916C>T | CA2733921354 | BRCA1 | c.4185+28G>A (n.4185+28G>A) c.4059+28G>A (n.4059+28G>A) c.4182+28G>A (n.4182+28G>A) c.4107+28G>A (n.4107+28G>A) c.873+28G>A (n.873+28G>A) c.735+28G>A (n.735+28G>A) c.3297+28G>A (n.3297+28G>A) c.4062+28G>A (n.4062+28G>A) c.4044+28G>A (n.4044+28G>A) c.753+28G>A (n.753+28G>A) c.795+28G>A (n.795+28G>A) c.506+28G>A c.759+28G>A (n.759+28G>A) c.*3968+28G>A (n.*3968+28G>A) c.479+28G>A c.876+28G>A (n.876+28G>A) c.498+28G>A (n.498+28G>A) c.501+28G>A (n.501+28G>A) c.5-26965G>A (n.5-26965G>A) c.-43-16395G>A (n.-43-16395G>A) c.-99+34355G>A (n.-99+34355G>A) n.4321+28G>A n.4362+28G>A | dbSNP |
17 | g.43090917A>G | CA2733921455 | BRCA1 | c.4185+27T>C (n.4185+27T>C) c.4059+27T>C (n.4059+27T>C) c.4182+27T>C (n.4182+27T>C) c.4107+27T>C (n.4107+27T>C) c.873+27T>C (n.873+27T>C) c.735+27T>C (n.735+27T>C) c.3297+27T>C (n.3297+27T>C) c.4062+27T>C (n.4062+27T>C) c.4044+27T>C (n.4044+27T>C) c.753+27T>C (n.753+27T>C) c.795+27T>C (n.795+27T>C) c.506+27T>C c.759+27T>C (n.759+27T>C) c.*3968+27T>C (n.*3968+27T>C) c.479+27T>C c.876+27T>C (n.876+27T>C) c.498+27T>C (n.498+27T>C) c.501+27T>C (n.501+27T>C) c.5-26966T>C (n.5-26966T>C) c.-43-16396T>C (n.-43-16396T>C) c.-99+34354T>C (n.-99+34354T>C) n.4321+27T>C n.4362+27T>C | dbSNP |
17 | g.43090917A>T | CA2733921536 | BRCA1 | c.4185+27T>A (n.4185+27T>A) c.4059+27T>A (n.4059+27T>A) c.4182+27T>A (n.4182+27T>A) c.4107+27T>A (n.4107+27T>A) c.873+27T>A (n.873+27T>A) c.735+27T>A (n.735+27T>A) c.3297+27T>A (n.3297+27T>A) c.4062+27T>A (n.4062+27T>A) c.4044+27T>A (n.4044+27T>A) c.753+27T>A (n.753+27T>A) c.795+27T>A (n.795+27T>A) c.506+27T>A c.759+27T>A (n.759+27T>A) c.*3968+27T>A (n.*3968+27T>A) c.479+27T>A c.876+27T>A (n.876+27T>A) c.498+27T>A (n.498+27T>A) c.501+27T>A (n.501+27T>A) c.5-26966T>A (n.5-26966T>A) c.-43-16396T>A (n.-43-16396T>A) c.-99+34354T>A (n.-99+34354T>A) n.4321+27T>A n.4362+27T>A | dbSNP |
17 | g.43090918T>A | CA290810839 | BRCA1 | c.4185+26A>T (n.4185+26A>T) c.4059+26A>T (n.4059+26A>T) c.4182+26A>T (n.4182+26A>T) c.4107+26A>T (n.4107+26A>T) c.873+26A>T (n.873+26A>T) c.735+26A>T (n.735+26A>T) c.3297+26A>T (n.3297+26A>T) c.4062+26A>T (n.4062+26A>T) c.4044+26A>T (n.4044+26A>T) c.753+26A>T (n.753+26A>T) c.795+26A>T (n.795+26A>T) c.506+26A>T c.759+26A>T (n.759+26A>T) c.*3968+26A>T (n.*3968+26A>T) c.479+26A>T c.876+26A>T (n.876+26A>T) c.498+26A>T (n.498+26A>T) c.501+26A>T (n.501+26A>T) c.5-26967A>T (n.5-26967A>T) c.-43-16397A>T (n.-43-16397A>T) c.-99+34353A>T (n.-99+34353A>T) n.4321+26A>T n.4362+26A>T | dbSNP |
17 | g.43090918T>C | CA2576282506 | BRCA1 | c.4185+26A>G (n.4185+26A>G) c.4059+26A>G (n.4059+26A>G) c.4182+26A>G (n.4182+26A>G) c.4107+26A>G (n.4107+26A>G) c.873+26A>G (n.873+26A>G) c.735+26A>G (n.735+26A>G) c.3297+26A>G (n.3297+26A>G) c.4062+26A>G (n.4062+26A>G) c.4044+26A>G (n.4044+26A>G) c.753+26A>G (n.753+26A>G) c.795+26A>G (n.795+26A>G) c.506+26A>G c.759+26A>G (n.759+26A>G) c.*3968+26A>G (n.*3968+26A>G) c.479+26A>G c.876+26A>G (n.876+26A>G) c.498+26A>G (n.498+26A>G) c.501+26A>G (n.501+26A>G) c.5-26967A>G (n.5-26967A>G) c.-43-16397A>G (n.-43-16397A>G) c.-99+34353A>G (n.-99+34353A>G) n.4321+26A>G n.4362+26A>G | dbSNP |
17 | g.43090918T>G | CA059577 | BRCA1 | c.4185+26A>C (n.4185+26A>C) c.4059+26A>C (n.4059+26A>C) c.4182+26A>C (n.4182+26A>C) c.4107+26A>C (n.4107+26A>C) c.873+26A>C (n.873+26A>C) c.735+26A>C (n.735+26A>C) c.3297+26A>C (n.3297+26A>C) c.4062+26A>C (n.4062+26A>C) c.4044+26A>C (n.4044+26A>C) c.753+26A>C (n.753+26A>C) c.795+26A>C (n.795+26A>C) c.506+26A>C c.759+26A>C (n.759+26A>C) c.*3968+26A>C (n.*3968+26A>C) c.479+26A>C c.876+26A>C (n.876+26A>C) c.498+26A>C (n.498+26A>C) c.501+26A>C (n.501+26A>C) c.5-26967A>C (n.5-26967A>C) c.-43-16397A>C (n.-43-16397A>C) c.-99+34353A>C (n.-99+34353A>C) n.4321+26A>C n.4362+26A>C | dbSNP ExAC gnomAD v4 |
17 | g.43090918T= | CA2260781604 | BRCA1 | c.4185+26A= (n.4185+26A=) c.4059+26A= (n.4059+26A=) c.4182+26A= (n.4182+26A=) c.4107+26A= (n.4107+26A=) c.873+26A= (n.873+26A=) c.735+26A= (n.735+26A=) c.3297+26A= (n.3297+26A=) c.4062+26A= (n.4062+26A=) c.4044+26A= (n.4044+26A=) c.753+26A= (n.753+26A=) c.795+26A= (n.795+26A=) c.506+26A= c.759+26A= (n.759+26A=) c.*3968+26A= (n.*3968+26A=) c.479+26A= c.876+26A= (n.876+26A=) c.498+26A= (n.498+26A=) c.501+26A= (n.501+26A=) c.5-26967A= (n.5-26967A=) c.-43-16397A= (n.-43-16397A=) c.-99+34353A= (n.-99+34353A=) n.4321+26A= n.4362+26A= | |
17 | g.43090919G>A | CA2576282507 | BRCA1 | c.4185+25C>T (n.4185+25C>T) c.4059+25C>T (n.4059+25C>T) c.4182+25C>T (n.4182+25C>T) c.4107+25C>T (n.4107+25C>T) c.873+25C>T (n.873+25C>T) c.735+25C>T (n.735+25C>T) c.3297+25C>T (n.3297+25C>T) c.4062+25C>T (n.4062+25C>T) c.4044+25C>T (n.4044+25C>T) c.753+25C>T (n.753+25C>T) c.795+25C>T (n.795+25C>T) c.506+25C>T c.759+25C>T (n.759+25C>T) c.*3968+25C>T (n.*3968+25C>T) c.479+25C>T c.876+25C>T (n.876+25C>T) c.498+25C>T (n.498+25C>T) c.501+25C>T (n.501+25C>T) c.5-26968C>T (n.5-26968C>T) c.-43-16398C>T (n.-43-16398C>T) c.-99+34352C>T (n.-99+34352C>T) n.4321+25C>T n.4362+25C>T | gnomAD v4 |
17 | g.43090919G>T | CA2638063803 | BRCA1 | c.4185+25C>A (n.4185+25C>A) c.4059+25C>A (n.4059+25C>A) c.4182+25C>A (n.4182+25C>A) c.4107+25C>A (n.4107+25C>A) c.873+25C>A (n.873+25C>A) c.735+25C>A (n.735+25C>A) c.3297+25C>A (n.3297+25C>A) c.4062+25C>A (n.4062+25C>A) c.4044+25C>A (n.4044+25C>A) c.753+25C>A (n.753+25C>A) c.795+25C>A (n.795+25C>A) c.506+25C>A c.759+25C>A (n.759+25C>A) c.*3968+25C>A (n.*3968+25C>A) c.479+25C>A c.876+25C>A (n.876+25C>A) c.498+25C>A (n.498+25C>A) c.501+25C>A (n.501+25C>A) c.5-26968C>A (n.5-26968C>A) c.-43-16398C>A (n.-43-16398C>A) c.-99+34352C>A (n.-99+34352C>A) n.4321+25C>A n.4362+25C>A | gnomAD v4 |
17 | g.43090920T>C | CA059571 | BRCA1 | c.4185+24A>G (n.4185+24A>G) c.4059+24A>G (n.4059+24A>G) c.4182+24A>G (n.4182+24A>G) c.4107+24A>G (n.4107+24A>G) c.873+24A>G (n.873+24A>G) c.735+24A>G (n.735+24A>G) c.3297+24A>G (n.3297+24A>G) c.4062+24A>G (n.4062+24A>G) c.4044+24A>G (n.4044+24A>G) c.753+24A>G (n.753+24A>G) c.795+24A>G (n.795+24A>G) c.506+24A>G c.759+24A>G (n.759+24A>G) c.*3968+24A>G (n.*3968+24A>G) c.479+24A>G c.876+24A>G (n.876+24A>G) c.498+24A>G (n.498+24A>G) c.501+24A>G (n.501+24A>G) c.5-26969A>G (n.5-26969A>G) c.-43-16399A>G (n.-43-16399A>G) c.-99+34351A>G (n.-99+34351A>G) n.4321+24A>G n.4362+24A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090920T>G | CA059564 | BRCA1 | c.4185+24A>C (n.4185+24A>C) c.4059+24A>C (n.4059+24A>C) c.4182+24A>C (n.4182+24A>C) c.4107+24A>C (n.4107+24A>C) c.873+24A>C (n.873+24A>C) c.735+24A>C (n.735+24A>C) c.3297+24A>C (n.3297+24A>C) c.4062+24A>C (n.4062+24A>C) c.4044+24A>C (n.4044+24A>C) c.753+24A>C (n.753+24A>C) c.795+24A>C (n.795+24A>C) c.506+24A>C c.759+24A>C (n.759+24A>C) c.*3968+24A>C (n.*3968+24A>C) c.479+24A>C c.876+24A>C (n.876+24A>C) c.498+24A>C (n.498+24A>C) c.501+24A>C (n.501+24A>C) c.5-26969A>C (n.5-26969A>C) c.-43-16399A>C (n.-43-16399A>C) c.-99+34351A>C (n.-99+34351A>C) n.4321+24A>C n.4362+24A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090920T= | CA2260781605 | BRCA1 | c.4185+24A= (n.4185+24A=) c.4059+24A= (n.4059+24A=) c.4182+24A= (n.4182+24A=) c.4107+24A= (n.4107+24A=) c.873+24A= (n.873+24A=) c.735+24A= (n.735+24A=) c.3297+24A= (n.3297+24A=) c.4062+24A= (n.4062+24A=) c.4044+24A= (n.4044+24A=) c.753+24A= (n.753+24A=) c.795+24A= (n.795+24A=) c.506+24A= c.759+24A= (n.759+24A=) c.*3968+24A= (n.*3968+24A=) c.479+24A= c.876+24A= (n.876+24A=) c.498+24A= (n.498+24A=) c.501+24A= (n.501+24A=) c.5-26969A= (n.5-26969A=) c.-43-16399A= (n.-43-16399A=) c.-99+34351A= (n.-99+34351A=) n.4321+24A= n.4362+24A= | |
17 | g.43090921G>A | CA2576282514 | BRCA1 | c.4185+23C>T (n.4185+23C>T) c.4059+23C>T (n.4059+23C>T) c.4182+23C>T (n.4182+23C>T) c.4107+23C>T (n.4107+23C>T) c.873+23C>T (n.873+23C>T) c.735+23C>T (n.735+23C>T) c.3297+23C>T (n.3297+23C>T) c.4062+23C>T (n.4062+23C>T) c.4044+23C>T (n.4044+23C>T) c.753+23C>T (n.753+23C>T) c.795+23C>T (n.795+23C>T) c.506+23C>T c.759+23C>T (n.759+23C>T) c.*3968+23C>T (n.*3968+23C>T) c.479+23C>T c.876+23C>T (n.876+23C>T) c.498+23C>T (n.498+23C>T) c.501+23C>T (n.501+23C>T) c.5-26970C>T (n.5-26970C>T) c.-43-16400C>T (n.-43-16400C>T) c.-99+34350C>T (n.-99+34350C>T) n.4321+23C>T n.4362+23C>T | gnomAD v4 |
17 | g.43090921G>T | CA2638063812 | BRCA1 | c.4185+23C>A (n.4185+23C>A) c.4059+23C>A (n.4059+23C>A) c.4182+23C>A (n.4182+23C>A) c.4107+23C>A (n.4107+23C>A) c.873+23C>A (n.873+23C>A) c.735+23C>A (n.735+23C>A) c.3297+23C>A (n.3297+23C>A) c.4062+23C>A (n.4062+23C>A) c.4044+23C>A (n.4044+23C>A) c.753+23C>A (n.753+23C>A) c.795+23C>A (n.795+23C>A) c.506+23C>A c.759+23C>A (n.759+23C>A) c.*3968+23C>A (n.*3968+23C>A) c.479+23C>A c.876+23C>A (n.876+23C>A) c.498+23C>A (n.498+23C>A) c.501+23C>A (n.501+23C>A) c.5-26970C>A (n.5-26970C>A) c.-43-16400C>A (n.-43-16400C>A) c.-99+34350C>A (n.-99+34350C>A) n.4321+23C>A n.4362+23C>A | gnomAD v4 |
17 | g.43090921_43090922del | CA2576282513 | BRCA1 | c.4185+22_4185+23del (n.4185+22_4185+23del) c.4059+22_4059+23del (n.4059+22_4059+23del) c.4182+22_4182+23del (n.4182+22_4182+23del) c.4107+22_4107+23del (n.4107+22_4107+23del) c.873+22_873+23del (n.873+22_873+23del) c.735+22_735+23del (n.735+22_735+23del) c.3297+22_3297+23del (n.3297+22_3297+23del) c.4062+22_4062+23del (n.4062+22_4062+23del) c.4044+22_4044+23del (n.4044+22_4044+23del) c.753+22_753+23del (n.753+22_753+23del) c.795+22_795+23del (n.795+22_795+23del) c.506+22_506+23del c.759+22_759+23del (n.759+22_759+23del) c.*3968+22_*3968+23del (n.*3968+22_*3968+23del) c.479+22_479+23del c.876+22_876+23del (n.876+22_876+23del) c.498+22_498+23del (n.498+22_498+23del) c.501+22_501+23del (n.501+22_501+23del) c.5-26971_5-26970del (n.5-26971_5-26970del) c.-43-16401_-43-16400del (n.-43-16401_-43-16400del) c.-99+34349_-99+34350del (n.-99+34349_-99+34350del) n.4321+22_4321+23del n.4362+22_4362+23del | gnomAD v4 |
17 | g.43090921_43090925delinsGCACA | CA2260781606 | BRCA1 | c.4185+19_4185+23delinsTGTGC (n.4185+19_4185+23delinsTGTGC) c.4059+19_4059+23delinsTGTGC (n.4059+19_4059+23delinsTGTGC) c.4182+19_4182+23delinsTGTGC (n.4182+19_4182+23delinsTGTGC) c.4107+19_4107+23delinsTGTGC (n.4107+19_4107+23delinsTGTGC) c.873+19_873+23delinsTGTGC (n.873+19_873+23delinsTGTGC) c.735+19_735+23delinsTGTGC (n.735+19_735+23delinsTGTGC) c.3297+19_3297+23delinsTGTGC (n.3297+19_3297+23delinsTGTGC) c.4062+19_4062+23delinsTGTGC (n.4062+19_4062+23delinsTGTGC) c.4044+19_4044+23delinsTGTGC (n.4044+19_4044+23delinsTGTGC) c.753+19_753+23delinsTGTGC (n.753+19_753+23delinsTGTGC) c.795+19_795+23delinsTGTGC (n.795+19_795+23delinsTGTGC) c.506+19_506+23delinsTGTGC c.759+19_759+23delinsTGTGC (n.759+19_759+23delinsTGTGC) c.*3968+19_*3968+23delinsTGTGC (n.*3968+19_*3968+23delinsTGTGC) c.479+19_479+23delinsTGTGC c.876+19_876+23delinsTGTGC (n.876+19_876+23delinsTGTGC) c.498+19_498+23delinsTGTGC (n.498+19_498+23delinsTGTGC) c.501+19_501+23delinsTGTGC (n.501+19_501+23delinsTGTGC) c.5-26974_5-26970delinsTGTGC (n.5-26974_5-26970delinsTGTGC) c.-43-16404_-43-16400delinsTGTGC (n.-43-16404_-43-16400delinsTGTGC) c.-99+34346_-99+34350delinsTGTGC (n.-99+34346_-99+34350delinsTGTGC) n.4321+19_4321+23delinsTGTGC n.4362+19_4362+23delinsTGTGC | |
17 | g.43090921_43090940delinsGCACACACACACACGCTTTT | CA2260781607 | BRCA1 | c.4185+4_4185+23delinsAAAAGCGTGTGTGTGTGTGC (n.4185+4_4185+23delinsAAAAGCGTGTGTGTGTGTGC) c.4059+4_4059+23delinsAAAAGCGTGTGTGTGTGTGC (n.4059+4_4059+23delinsAAAAGCGTGTGTGTGTGTGC) c.4182+4_4182+23delinsAAAAGCGTGTGTGTGTGTGC (n.4182+4_4182+23delinsAAAAGCGTGTGTGTGTGTGC) c.4107+4_4107+23delinsAAAAGCGTGTGTGTGTGTGC (n.4107+4_4107+23delinsAAAAGCGTGTGTGTGTGTGC) c.873+4_873+23delinsAAAAGCGTGTGTGTGTGTGC (n.873+4_873+23delinsAAAAGCGTGTGTGTGTGTGC) c.735+4_735+23delinsAAAAGCGTGTGTGTGTGTGC (n.735+4_735+23delinsAAAAGCGTGTGTGTGTGTGC) c.3297+4_3297+23delinsAAAAGCGTGTGTGTGTGTGC (n.3297+4_3297+23delinsAAAAGCGTGTGTGTGTGTGC) c.4062+4_4062+23delinsAAAAGCGTGTGTGTGTGTGC (n.4062+4_4062+23delinsAAAAGCGTGTGTGTGTGTGC) c.4044+4_4044+23delinsAAAAGCGTGTGTGTGTGTGC (n.4044+4_4044+23delinsAAAAGCGTGTGTGTGTGTGC) c.753+4_753+23delinsAAAAGCGTGTGTGTGTGTGC (n.753+4_753+23delinsAAAAGCGTGTGTGTGTGTGC) c.795+4_795+23delinsAAAAGCGTGTGTGTGTGTGC (n.795+4_795+23delinsAAAAGCGTGTGTGTGTGTGC) c.506+4_506+23delinsAAAAGCGTGTGTGTGTGTGC c.759+4_759+23delinsAAAAGCGTGTGTGTGTGTGC (n.759+4_759+23delinsAAAAGCGTGTGTGTGTGTGC) c.*3968+4_*3968+23delinsAAAAGCGTGTGTGTGTGTGC (n.*3968+4_*3968+23delinsAAAAGCGTGTGTGTGTGTGC) c.479+4_479+23delinsAAAAGCGTGTGTGTGTGTGC c.876+4_876+23delinsAAAAGCGTGTGTGTGTGTGC (n.876+4_876+23delinsAAAAGCGTGTGTGTGTGTGC) c.498+4_498+23delinsAAAAGCGTGTGTGTGTGTGC (n.498+4_498+23delinsAAAAGCGTGTGTGTGTGTGC) c.501+4_501+23delinsAAAAGCGTGTGTGTGTGTGC (n.501+4_501+23delinsAAAAGCGTGTGTGTGTGTGC) c.5-26989_5-26970delinsAAAAGCGTGTGTGTGTGTGC (n.5-26989_5-26970delinsAAAAGCGTGTGTGTGTGTGC) c.-43-16419_-43-16400delinsAAAAGCGTGTGTGTGTGTGC (n.-43-16419_-43-16400delinsAAAAGCGTGTGTGTGTGTGC) c.-99+34331_-99+34350delinsAAAAGCGTGTGTGTGTGTGC (n.-99+34331_-99+34350delinsAAAAGCGTGTGTGTGTGTGC) n.4321+4_4321+23delinsAAAAGCGTGTGTGTGTGTGC n.4362+4_4362+23delinsAAAAGCGTGTGTGTGTGTGC | |
17 | g.43090921_43090942delinsGCACACACACACACGCTTTTTA | CA2260781608 | BRCA1 | c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.4059+2_4059+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4059+2_4059+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.4182+2_4182+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4182+2_4182+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.4107+2_4107+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4107+2_4107+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.873+2_873+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.873+2_873+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.3297+2_3297+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.3297+2_3297+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.4062+2_4062+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4062+2_4062+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.753+2_753+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.753+2_753+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.795+2_795+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.795+2_795+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.506+2_506+23delinsTAAAAAGCGTGTGTGTGTGTGC c.759+2_759+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.759+2_759+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.*3968+2_*3968+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.*3968+2_*3968+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.479+2_479+23delinsTAAAAAGCGTGTGTGTGTGTGC c.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.498+2_498+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.498+2_498+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.501+2_501+23delinsTAAAAAGCGTGTGTGTGTGTGC (n.501+2_501+23delinsTAAAAAGCGTGTGTGTGTGTGC) c.5-26991_5-26970delinsTAAAAAGCGTGTGTGTGTGTGC (n.5-26991_5-26970delinsTAAAAAGCGTGTGTGTGTGTGC) c.-43-16421_-43-16400delinsTAAAAAGCGTGTGTGTGTGTGC (n.-43-16421_-43-16400delinsTAAAAAGCGTGTGTGTGTGTGC) c.-99+34329_-99+34350delinsTAAAAAGCGTGTGTGTGTGTGC (n.-99+34329_-99+34350delinsTAAAAAGCGTGTGTGTGTGTGC) n.4321+2_4321+23delinsTAAAAAGCGTGTGTGTGTGTGC n.4362+2_4362+23delinsTAAAAAGCGTGTGTGTGTGTGC | |
17 | g.43090922C>G | CA2733921549 | BRCA1 | c.4185+22G>C (n.4185+22G>C) c.4059+22G>C (n.4059+22G>C) c.4182+22G>C (n.4182+22G>C) c.4107+22G>C (n.4107+22G>C) c.873+22G>C (n.873+22G>C) c.735+22G>C (n.735+22G>C) c.3297+22G>C (n.3297+22G>C) c.4062+22G>C (n.4062+22G>C) c.4044+22G>C (n.4044+22G>C) c.753+22G>C (n.753+22G>C) c.795+22G>C (n.795+22G>C) c.506+22G>C c.759+22G>C (n.759+22G>C) c.*3968+22G>C (n.*3968+22G>C) c.479+22G>C c.876+22G>C (n.876+22G>C) c.498+22G>C (n.498+22G>C) c.501+22G>C (n.501+22G>C) c.5-26971G>C (n.5-26971G>C) c.-43-16401G>C (n.-43-16401G>C) c.-99+34349G>C (n.-99+34349G>C) n.4321+22G>C n.4362+22G>C | dbSNP |
17 | g.43090922C>T | CA2638063821 | BRCA1 | c.4185+22G>A (n.4185+22G>A) c.4059+22G>A (n.4059+22G>A) c.4182+22G>A (n.4182+22G>A) c.4107+22G>A (n.4107+22G>A) c.873+22G>A (n.873+22G>A) c.735+22G>A (n.735+22G>A) c.3297+22G>A (n.3297+22G>A) c.4062+22G>A (n.4062+22G>A) c.4044+22G>A (n.4044+22G>A) c.753+22G>A (n.753+22G>A) c.795+22G>A (n.795+22G>A) c.506+22G>A c.759+22G>A (n.759+22G>A) c.*3968+22G>A (n.*3968+22G>A) c.479+22G>A c.876+22G>A (n.876+22G>A) c.498+22G>A (n.498+22G>A) c.501+22G>A (n.501+22G>A) c.5-26971G>A (n.5-26971G>A) c.-43-16401G>A (n.-43-16401G>A) c.-99+34349G>A (n.-99+34349G>A) n.4321+22G>A n.4362+22G>A | gnomAD v4 |
17 | g.43090933_43090934dup | CA002685 | BRCA1 | c.4185+21_4185+22dup (n.4185+21_4185+22dup) c.4059+21_4059+22dup (n.4059+21_4059+22dup) c.4182+21_4182+22dup (n.4182+21_4182+22dup) c.4107+21_4107+22dup (n.4107+21_4107+22dup) c.873+21_873+22dup (n.873+21_873+22dup) c.735+21_735+22dup (n.735+21_735+22dup) c.3297+21_3297+22dup (n.3297+21_3297+22dup) c.4062+21_4062+22dup (n.4062+21_4062+22dup) c.4044+21_4044+22dup (n.4044+21_4044+22dup) c.753+21_753+22dup (n.753+21_753+22dup) c.795+21_795+22dup (n.795+21_795+22dup) c.506+21_506+22dup c.759+21_759+22dup (n.759+21_759+22dup) c.*3968+21_*3968+22dup (n.*3968+21_*3968+22dup) c.479+21_479+22dup c.876+21_876+22dup (n.876+21_876+22dup) c.498+21_498+22dup (n.498+21_498+22dup) c.501+21_501+22dup (n.501+21_501+22dup) c.5-26972_5-26971dup (n.5-26972_5-26971dup) c.-43-16402_-43-16401dup (n.-43-16402_-43-16401dup) c.-99+34348_-99+34349dup (n.-99+34348_-99+34349dup) n.4321+21_4321+22dup n.4362+21_4362+22dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090933_43090934del | CA002681 | BRCA1 | c.4185+21_4185+22del (n.4185+21_4185+22del) c.4059+21_4059+22del (n.4059+21_4059+22del) c.4182+21_4182+22del (n.4182+21_4182+22del) c.4107+21_4107+22del (n.4107+21_4107+22del) c.873+21_873+22del (n.873+21_873+22del) c.735+21_735+22del (n.735+21_735+22del) c.3297+21_3297+22del (n.3297+21_3297+22del) c.4062+21_4062+22del (n.4062+21_4062+22del) c.4044+21_4044+22del (n.4044+21_4044+22del) c.753+21_753+22del (n.753+21_753+22del) c.795+21_795+22del (n.795+21_795+22del) c.506+21_506+22del c.759+21_759+22del (n.759+21_759+22del) c.*3968+21_*3968+22del (n.*3968+21_*3968+22del) c.479+21_479+22del c.876+21_876+22del (n.876+21_876+22del) c.498+21_498+22del (n.498+21_498+22del) c.501+21_501+22del (n.501+21_501+22del) c.5-26972_5-26971del (n.5-26972_5-26971del) c.-43-16402_-43-16401del (n.-43-16402_-43-16401del) c.-99+34348_-99+34349del (n.-99+34348_-99+34349del) n.4321+21_4321+22del n.4362+21_4362+22del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.43090931_43090934del | CA915950067 | BRCA1 | c.4185+19_4185+22del (n.4185+19_4185+22del) c.4059+19_4059+22del (n.4059+19_4059+22del) c.4182+19_4182+22del (n.4182+19_4182+22del) c.4107+19_4107+22del (n.4107+19_4107+22del) c.873+19_873+22del (n.873+19_873+22del) c.735+19_735+22del (n.735+19_735+22del) c.3297+19_3297+22del (n.3297+19_3297+22del) c.4062+19_4062+22del (n.4062+19_4062+22del) c.4044+19_4044+22del (n.4044+19_4044+22del) c.753+19_753+22del (n.753+19_753+22del) c.795+19_795+22del (n.795+19_795+22del) c.506+19_506+22del c.759+19_759+22del (n.759+19_759+22del) c.*3968+19_*3968+22del (n.*3968+19_*3968+22del) c.479+19_479+22del c.876+19_876+22del (n.876+19_876+22del) c.498+19_498+22del (n.498+19_498+22del) c.501+19_501+22del (n.501+19_501+22del) c.5-26974_5-26971del (n.5-26974_5-26971del) c.-43-16404_-43-16401del (n.-43-16404_-43-16401del) c.-99+34346_-99+34349del (n.-99+34346_-99+34349del) n.4321+19_4321+22del n.4362+19_4362+22del | ClinVar dbSNP gnomAD v4 |
17 | g.43090922_43090940del | CA1139665599 | BRCA1 | c.4185+4_4185+22del (n.4185+4_4185+22del) c.4059+4_4059+22del (n.4059+4_4059+22del) c.4182+4_4182+22del (n.4182+4_4182+22del) c.4107+4_4107+22del (n.4107+4_4107+22del) c.873+4_873+22del (n.873+4_873+22del) c.735+4_735+22del (n.735+4_735+22del) c.3297+4_3297+22del (n.3297+4_3297+22del) c.4062+4_4062+22del (n.4062+4_4062+22del) c.4044+4_4044+22del (n.4044+4_4044+22del) c.753+4_753+22del (n.753+4_753+22del) c.795+4_795+22del (n.795+4_795+22del) c.506+4_506+22del c.759+4_759+22del (n.759+4_759+22del) c.*3968+4_*3968+22del (n.*3968+4_*3968+22del) c.479+4_479+22del c.876+4_876+22del (n.876+4_876+22del) c.498+4_498+22del (n.498+4_498+22del) c.501+4_501+22del (n.501+4_501+22del) c.5-26989_5-26971del (n.5-26989_5-26971del) c.-43-16419_-43-16401del (n.-43-16419_-43-16401del) c.-99+34331_-99+34349del (n.-99+34331_-99+34349del) n.4321+4_4321+22del n.4362+4_4362+22del | ClinVar dbSNP |
17 | g.43090922_43090942delinsT | CA260692 | BRCA1 | c.4185+2_4185+22delinsA (n.4185+2_4185+22delinsA) c.4059+2_4059+22delinsA (n.4059+2_4059+22delinsA) c.4182+2_4182+22delinsA (n.4182+2_4182+22delinsA) c.4107+2_4107+22delinsA (n.4107+2_4107+22delinsA) c.873+2_873+22delinsA (n.873+2_873+22delinsA) c.735+2_735+22delinsA (n.735+2_735+22delinsA) c.3297+2_3297+22delinsA (n.3297+2_3297+22delinsA) c.4062+2_4062+22delinsA (n.4062+2_4062+22delinsA) c.4044+2_4044+22delinsA (n.4044+2_4044+22delinsA) c.753+2_753+22delinsA (n.753+2_753+22delinsA) c.795+2_795+22delinsA (n.795+2_795+22delinsA) c.506+2_506+22delinsA c.759+2_759+22delinsA (n.759+2_759+22delinsA) c.*3968+2_*3968+22delinsA (n.*3968+2_*3968+22delinsA) c.479+2_479+22delinsA c.876+2_876+22delinsA (n.876+2_876+22delinsA) c.498+2_498+22delinsA (n.498+2_498+22delinsA) c.501+2_501+22delinsA (n.501+2_501+22delinsA) c.5-26991_5-26971delinsA (n.5-26991_5-26971delinsA) c.-43-16421_-43-16401delinsA (n.-43-16421_-43-16401delinsA) c.-99+34329_-99+34349delinsA (n.-99+34329_-99+34349delinsA) n.4321+2_4321+22delinsA n.4362+2_4362+22delinsA | ClinVar dbSNP |