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.43090893A>G | CA2733920687 | BRCA1 | c.4185+51T>C (n.4185+51T>C) c.4059+51T>C (n.4059+51T>C) c.4182+51T>C (n.4182+51T>C) c.4107+51T>C (n.4107+51T>C) c.873+51T>C (n.873+51T>C) c.735+51T>C (n.735+51T>C) c.3297+51T>C (n.3297+51T>C) c.4062+51T>C (n.4062+51T>C) c.4044+51T>C (n.4044+51T>C) c.753+51T>C (n.753+51T>C) c.795+51T>C (n.795+51T>C) c.506+51T>C c.759+51T>C (n.759+51T>C) c.*3968+51T>C (n.*3968+51T>C) c.479+51T>C c.876+51T>C (n.876+51T>C) c.498+51T>C (n.498+51T>C) c.501+51T>C (n.501+51T>C) c.5-26942T>C (n.5-26942T>C) c.-43-16372T>C (n.-43-16372T>C) c.-99+34378T>C (n.-99+34378T>C) n.4321+51T>C n.4362+51T>C | dbSNP |
17 | g.43090893A>T | CA2733920718 | BRCA1 | c.4185+51T>A (n.4185+51T>A) c.4059+51T>A (n.4059+51T>A) c.4182+51T>A (n.4182+51T>A) c.4107+51T>A (n.4107+51T>A) c.873+51T>A (n.873+51T>A) c.735+51T>A (n.735+51T>A) c.3297+51T>A (n.3297+51T>A) c.4062+51T>A (n.4062+51T>A) c.4044+51T>A (n.4044+51T>A) c.753+51T>A (n.753+51T>A) c.795+51T>A (n.795+51T>A) c.506+51T>A c.759+51T>A (n.759+51T>A) c.*3968+51T>A (n.*3968+51T>A) c.479+51T>A c.876+51T>A (n.876+51T>A) c.498+51T>A (n.498+51T>A) c.501+51T>A (n.501+51T>A) c.5-26942T>A (n.5-26942T>A) c.-43-16372T>A (n.-43-16372T>A) c.-99+34378T>A (n.-99+34378T>A) n.4321+51T>A n.4362+51T>A | dbSNP |
17 | g.43090894T>A | CA2733920852 | BRCA1 | c.4185+50A>T (n.4185+50A>T) c.4059+50A>T (n.4059+50A>T) c.4182+50A>T (n.4182+50A>T) c.4107+50A>T (n.4107+50A>T) c.873+50A>T (n.873+50A>T) c.735+50A>T (n.735+50A>T) c.3297+50A>T (n.3297+50A>T) c.4062+50A>T (n.4062+50A>T) c.4044+50A>T (n.4044+50A>T) c.753+50A>T (n.753+50A>T) c.795+50A>T (n.795+50A>T) c.506+50A>T c.759+50A>T (n.759+50A>T) c.*3968+50A>T (n.*3968+50A>T) c.479+50A>T c.876+50A>T (n.876+50A>T) c.498+50A>T (n.498+50A>T) c.501+50A>T (n.501+50A>T) c.5-26943A>T (n.5-26943A>T) c.-43-16373A>T (n.-43-16373A>T) c.-99+34377A>T (n.-99+34377A>T) n.4321+50A>T n.4362+50A>T | dbSNP |
17 | g.43090894T>G | CA2733920854 | BRCA1 | c.4185+50A>C (n.4185+50A>C) c.4059+50A>C (n.4059+50A>C) c.4182+50A>C (n.4182+50A>C) c.4107+50A>C (n.4107+50A>C) c.873+50A>C (n.873+50A>C) c.735+50A>C (n.735+50A>C) c.3297+50A>C (n.3297+50A>C) c.4062+50A>C (n.4062+50A>C) c.4044+50A>C (n.4044+50A>C) c.753+50A>C (n.753+50A>C) c.795+50A>C (n.795+50A>C) c.506+50A>C c.759+50A>C (n.759+50A>C) c.*3968+50A>C (n.*3968+50A>C) c.479+50A>C c.876+50A>C (n.876+50A>C) c.498+50A>C (n.498+50A>C) c.501+50A>C (n.501+50A>C) c.5-26943A>C (n.5-26943A>C) c.-43-16373A>C (n.-43-16373A>C) c.-99+34377A>C (n.-99+34377A>C) n.4321+50A>C n.4362+50A>C | dbSNP |
17 | g.43090895G>A | CA2733920855 | BRCA1 | c.4185+49C>T (n.4185+49C>T) c.4059+49C>T (n.4059+49C>T) c.4182+49C>T (n.4182+49C>T) c.4107+49C>T (n.4107+49C>T) c.873+49C>T (n.873+49C>T) c.735+49C>T (n.735+49C>T) c.3297+49C>T (n.3297+49C>T) c.4062+49C>T (n.4062+49C>T) c.4044+49C>T (n.4044+49C>T) c.753+49C>T (n.753+49C>T) c.795+49C>T (n.795+49C>T) c.506+49C>T c.759+49C>T (n.759+49C>T) c.*3968+49C>T (n.*3968+49C>T) c.479+49C>T c.876+49C>T (n.876+49C>T) c.498+49C>T (n.498+49C>T) c.501+49C>T (n.501+49C>T) c.5-26944C>T (n.5-26944C>T) c.-43-16374C>T (n.-43-16374C>T) c.-99+34376C>T (n.-99+34376C>T) n.4321+49C>T n.4362+49C>T | dbSNP |
17 | g.43090895G>C | CA2638063768 | BRCA1 | c.4185+49C>G (n.4185+49C>G) c.4059+49C>G (n.4059+49C>G) c.4182+49C>G (n.4182+49C>G) c.4107+49C>G (n.4107+49C>G) c.873+49C>G (n.873+49C>G) c.735+49C>G (n.735+49C>G) c.3297+49C>G (n.3297+49C>G) c.4062+49C>G (n.4062+49C>G) c.4044+49C>G (n.4044+49C>G) c.753+49C>G (n.753+49C>G) c.795+49C>G (n.795+49C>G) c.506+49C>G c.759+49C>G (n.759+49C>G) c.*3968+49C>G (n.*3968+49C>G) c.479+49C>G c.876+49C>G (n.876+49C>G) c.498+49C>G (n.498+49C>G) c.501+49C>G (n.501+49C>G) c.5-26944C>G (n.5-26944C>G) c.-43-16374C>G (n.-43-16374C>G) c.-99+34376C>G (n.-99+34376C>G) n.4321+49C>G n.4362+49C>G | dbSNP gnomAD v4 |
17 | g.43090895G>T | CA2638063769 | BRCA1 | c.4185+49C>A (n.4185+49C>A) c.4059+49C>A (n.4059+49C>A) c.4182+49C>A (n.4182+49C>A) c.4107+49C>A (n.4107+49C>A) c.873+49C>A (n.873+49C>A) c.735+49C>A (n.735+49C>A) c.3297+49C>A (n.3297+49C>A) c.4062+49C>A (n.4062+49C>A) c.4044+49C>A (n.4044+49C>A) c.753+49C>A (n.753+49C>A) c.795+49C>A (n.795+49C>A) c.506+49C>A c.759+49C>A (n.759+49C>A) c.*3968+49C>A (n.*3968+49C>A) c.479+49C>A c.876+49C>A (n.876+49C>A) c.498+49C>A (n.498+49C>A) c.501+49C>A (n.501+49C>A) c.5-26944C>A (n.5-26944C>A) c.-43-16374C>A (n.-43-16374C>A) c.-99+34376C>A (n.-99+34376C>A) n.4321+49C>A n.4362+49C>A | dbSNP gnomAD v4 |
17 | g.43090896C>A | CA2733920869 | BRCA1 | c.4185+48G>T (n.4185+48G>T) c.4059+48G>T (n.4059+48G>T) c.4182+48G>T (n.4182+48G>T) c.4107+48G>T (n.4107+48G>T) c.873+48G>T (n.873+48G>T) c.735+48G>T (n.735+48G>T) c.3297+48G>T (n.3297+48G>T) c.4062+48G>T (n.4062+48G>T) c.4044+48G>T (n.4044+48G>T) c.753+48G>T (n.753+48G>T) c.795+48G>T (n.795+48G>T) c.506+48G>T c.759+48G>T (n.759+48G>T) c.*3968+48G>T (n.*3968+48G>T) c.479+48G>T c.876+48G>T (n.876+48G>T) c.498+48G>T (n.498+48G>T) c.501+48G>T (n.501+48G>T) c.5-26945G>T (n.5-26945G>T) c.-43-16375G>T (n.-43-16375G>T) c.-99+34375G>T (n.-99+34375G>T) n.4321+48G>T n.4362+48G>T | dbSNP |
17 | g.43090896C>G | CA2733920870 | BRCA1 | c.4185+48G>C (n.4185+48G>C) c.4059+48G>C (n.4059+48G>C) c.4182+48G>C (n.4182+48G>C) c.4107+48G>C (n.4107+48G>C) c.873+48G>C (n.873+48G>C) c.735+48G>C (n.735+48G>C) c.3297+48G>C (n.3297+48G>C) c.4062+48G>C (n.4062+48G>C) c.4044+48G>C (n.4044+48G>C) c.753+48G>C (n.753+48G>C) c.795+48G>C (n.795+48G>C) c.506+48G>C c.759+48G>C (n.759+48G>C) c.*3968+48G>C (n.*3968+48G>C) c.479+48G>C c.876+48G>C (n.876+48G>C) c.498+48G>C (n.498+48G>C) c.501+48G>C (n.501+48G>C) c.5-26945G>C (n.5-26945G>C) c.-43-16375G>C (n.-43-16375G>C) c.-99+34375G>C (n.-99+34375G>C) n.4321+48G>C n.4362+48G>C | dbSNP |
17 | g.43090896C>T | CA2638063771 | BRCA1 | c.4185+48G>A (n.4185+48G>A) c.4059+48G>A (n.4059+48G>A) c.4182+48G>A (n.4182+48G>A) c.4107+48G>A (n.4107+48G>A) c.873+48G>A (n.873+48G>A) c.735+48G>A (n.735+48G>A) c.3297+48G>A (n.3297+48G>A) c.4062+48G>A (n.4062+48G>A) c.4044+48G>A (n.4044+48G>A) c.753+48G>A (n.753+48G>A) c.795+48G>A (n.795+48G>A) c.506+48G>A c.759+48G>A (n.759+48G>A) c.*3968+48G>A (n.*3968+48G>A) c.479+48G>A c.876+48G>A (n.876+48G>A) c.498+48G>A (n.498+48G>A) c.501+48G>A (n.501+48G>A) c.5-26945G>A (n.5-26945G>A) c.-43-16375G>A (n.-43-16375G>A) c.-99+34375G>A (n.-99+34375G>A) n.4321+48G>A n.4362+48G>A | dbSNP gnomAD v4 |
17 | g.43090897A= | CA2260781591 | BRCA1 | c.4185+47T= (n.4185+47T=) c.4059+47T= (n.4059+47T=) c.4182+47T= (n.4182+47T=) c.4107+47T= (n.4107+47T=) c.873+47T= (n.873+47T=) c.735+47T= (n.735+47T=) c.3297+47T= (n.3297+47T=) c.4062+47T= (n.4062+47T=) c.4044+47T= (n.4044+47T=) c.753+47T= (n.753+47T=) c.795+47T= (n.795+47T=) c.506+47T= c.759+47T= (n.759+47T=) c.*3968+47T= (n.*3968+47T=) c.479+47T= c.876+47T= (n.876+47T=) c.498+47T= (n.498+47T=) c.501+47T= (n.501+47T=) c.5-26946T= (n.5-26946T=) c.-43-16376T= (n.-43-16376T=) c.-99+34374T= (n.-99+34374T=) n.4321+47T= n.4362+47T= | |
17 | g.43090897A>G | CA772185058 | BRCA1 | c.4185+47T>C (n.4185+47T>C) c.4059+47T>C (n.4059+47T>C) c.4182+47T>C (n.4182+47T>C) c.4107+47T>C (n.4107+47T>C) c.873+47T>C (n.873+47T>C) c.735+47T>C (n.735+47T>C) c.3297+47T>C (n.3297+47T>C) c.4062+47T>C (n.4062+47T>C) c.4044+47T>C (n.4044+47T>C) c.753+47T>C (n.753+47T>C) c.795+47T>C (n.795+47T>C) c.506+47T>C c.759+47T>C (n.759+47T>C) c.*3968+47T>C (n.*3968+47T>C) c.479+47T>C c.876+47T>C (n.876+47T>C) c.498+47T>C (n.498+47T>C) c.501+47T>C (n.501+47T>C) c.5-26946T>C (n.5-26946T>C) c.-43-16376T>C (n.-43-16376T>C) c.-99+34374T>C (n.-99+34374T>C) n.4321+47T>C n.4362+47T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43090898A>T | CA2733920955 | BRCA1 | c.4185+46T>A (n.4185+46T>A) c.4059+46T>A (n.4059+46T>A) c.4182+46T>A (n.4182+46T>A) c.4107+46T>A (n.4107+46T>A) c.873+46T>A (n.873+46T>A) c.735+46T>A (n.735+46T>A) c.3297+46T>A (n.3297+46T>A) c.4062+46T>A (n.4062+46T>A) c.4044+46T>A (n.4044+46T>A) c.753+46T>A (n.753+46T>A) c.795+46T>A (n.795+46T>A) c.506+46T>A c.759+46T>A (n.759+46T>A) c.*3968+46T>A (n.*3968+46T>A) c.479+46T>A c.876+46T>A (n.876+46T>A) c.498+46T>A (n.498+46T>A) c.501+46T>A (n.501+46T>A) c.5-26947T>A (n.5-26947T>A) c.-43-16377T>A (n.-43-16377T>A) c.-99+34373T>A (n.-99+34373T>A) n.4321+46T>A n.4362+46T>A | dbSNP |
17 | g.43090899A= | CA2260781592 | BRCA1 | c.4185+45T= (n.4185+45T=) c.4059+45T= (n.4059+45T=) c.4182+45T= (n.4182+45T=) c.4107+45T= (n.4107+45T=) c.873+45T= (n.873+45T=) c.735+45T= (n.735+45T=) c.3297+45T= (n.3297+45T=) c.4062+45T= (n.4062+45T=) c.4044+45T= (n.4044+45T=) c.753+45T= (n.753+45T=) c.795+45T= (n.795+45T=) c.506+45T= c.759+45T= (n.759+45T=) c.*3968+45T= (n.*3968+45T=) c.479+45T= c.876+45T= (n.876+45T=) c.498+45T= (n.498+45T=) c.501+45T= (n.501+45T=) c.5-26948T= (n.5-26948T=) c.-43-16378T= (n.-43-16378T=) c.-99+34372T= (n.-99+34372T=) n.4321+45T= n.4362+45T= | |
17 | g.43090899A>G | CA2260781593 | BRCA1 | c.4185+45T>C (n.4185+45T>C) c.4059+45T>C (n.4059+45T>C) c.4182+45T>C (n.4182+45T>C) c.4107+45T>C (n.4107+45T>C) c.873+45T>C (n.873+45T>C) c.735+45T>C (n.735+45T>C) c.3297+45T>C (n.3297+45T>C) c.4062+45T>C (n.4062+45T>C) c.4044+45T>C (n.4044+45T>C) c.753+45T>C (n.753+45T>C) c.795+45T>C (n.795+45T>C) c.506+45T>C c.759+45T>C (n.759+45T>C) c.*3968+45T>C (n.*3968+45T>C) c.479+45T>C c.876+45T>C (n.876+45T>C) c.498+45T>C (n.498+45T>C) c.501+45T>C (n.501+45T>C) c.5-26948T>C (n.5-26948T>C) c.-43-16378T>C (n.-43-16378T>C) c.-99+34372T>C (n.-99+34372T>C) n.4321+45T>C n.4362+45T>C | dbSNP |
17 | g.43090899A>T | CA2733693487 | BRCA1 | c.4185+45T>A (n.4185+45T>A) c.4059+45T>A (n.4059+45T>A) c.4182+45T>A (n.4182+45T>A) c.4107+45T>A (n.4107+45T>A) c.873+45T>A (n.873+45T>A) c.735+45T>A (n.735+45T>A) c.3297+45T>A (n.3297+45T>A) c.4062+45T>A (n.4062+45T>A) c.4044+45T>A (n.4044+45T>A) c.753+45T>A (n.753+45T>A) c.795+45T>A (n.795+45T>A) c.506+45T>A c.759+45T>A (n.759+45T>A) c.*3968+45T>A (n.*3968+45T>A) c.479+45T>A c.876+45T>A (n.876+45T>A) c.498+45T>A (n.498+45T>A) c.501+45T>A (n.501+45T>A) c.5-26948T>A (n.5-26948T>A) c.-43-16378T>A (n.-43-16378T>A) c.-99+34372T>A (n.-99+34372T>A) n.4321+45T>A n.4362+45T>A | dbSNP |
17 | g.43090900G>A | CA2733920972 | BRCA1 | c.4185+44C>T (n.4185+44C>T) c.4059+44C>T (n.4059+44C>T) c.4182+44C>T (n.4182+44C>T) c.4107+44C>T (n.4107+44C>T) c.873+44C>T (n.873+44C>T) c.735+44C>T (n.735+44C>T) c.3297+44C>T (n.3297+44C>T) c.4062+44C>T (n.4062+44C>T) c.4044+44C>T (n.4044+44C>T) c.753+44C>T (n.753+44C>T) c.795+44C>T (n.795+44C>T) c.506+44C>T c.759+44C>T (n.759+44C>T) c.*3968+44C>T (n.*3968+44C>T) c.479+44C>T c.876+44C>T (n.876+44C>T) c.498+44C>T (n.498+44C>T) c.501+44C>T (n.501+44C>T) c.5-26949C>T (n.5-26949C>T) c.-43-16379C>T (n.-43-16379C>T) c.-99+34371C>T (n.-99+34371C>T) n.4321+44C>T n.4362+44C>T | dbSNP |
17 | g.43090900G>T | CA2638063772 | BRCA1 | c.4185+44C>A (n.4185+44C>A) c.4059+44C>A (n.4059+44C>A) c.4182+44C>A (n.4182+44C>A) c.4107+44C>A (n.4107+44C>A) c.873+44C>A (n.873+44C>A) c.735+44C>A (n.735+44C>A) c.3297+44C>A (n.3297+44C>A) c.4062+44C>A (n.4062+44C>A) c.4044+44C>A (n.4044+44C>A) c.753+44C>A (n.753+44C>A) c.795+44C>A (n.795+44C>A) c.506+44C>A c.759+44C>A (n.759+44C>A) c.*3968+44C>A (n.*3968+44C>A) c.479+44C>A c.876+44C>A (n.876+44C>A) c.498+44C>A (n.498+44C>A) c.501+44C>A (n.501+44C>A) c.5-26949C>A (n.5-26949C>A) c.-43-16379C>A (n.-43-16379C>A) c.-99+34371C>A (n.-99+34371C>A) n.4321+44C>A n.4362+44C>A | gnomAD v4 |
17 | g.43090901G>A | CA2733921003 | BRCA1 | c.4185+43C>T (n.4185+43C>T) c.4059+43C>T (n.4059+43C>T) c.4182+43C>T (n.4182+43C>T) c.4107+43C>T (n.4107+43C>T) c.873+43C>T (n.873+43C>T) c.735+43C>T (n.735+43C>T) c.3297+43C>T (n.3297+43C>T) c.4062+43C>T (n.4062+43C>T) c.4044+43C>T (n.4044+43C>T) c.753+43C>T (n.753+43C>T) c.795+43C>T (n.795+43C>T) c.506+43C>T c.759+43C>T (n.759+43C>T) c.*3968+43C>T (n.*3968+43C>T) c.479+43C>T c.876+43C>T (n.876+43C>T) c.498+43C>T (n.498+43C>T) c.501+43C>T (n.501+43C>T) c.5-26950C>T (n.5-26950C>T) c.-43-16380C>T (n.-43-16380C>T) c.-99+34370C>T (n.-99+34370C>T) n.4321+43C>T n.4362+43C>T | dbSNP |
17 | g.43090901G>C | CA2733921034 | BRCA1 | c.4185+43C>G (n.4185+43C>G) c.4059+43C>G (n.4059+43C>G) c.4182+43C>G (n.4182+43C>G) c.4107+43C>G (n.4107+43C>G) c.873+43C>G (n.873+43C>G) c.735+43C>G (n.735+43C>G) c.3297+43C>G (n.3297+43C>G) c.4062+43C>G (n.4062+43C>G) c.4044+43C>G (n.4044+43C>G) c.753+43C>G (n.753+43C>G) c.795+43C>G (n.795+43C>G) c.506+43C>G c.759+43C>G (n.759+43C>G) c.*3968+43C>G (n.*3968+43C>G) c.479+43C>G c.876+43C>G (n.876+43C>G) c.498+43C>G (n.498+43C>G) c.501+43C>G (n.501+43C>G) c.5-26950C>G (n.5-26950C>G) c.-43-16380C>G (n.-43-16380C>G) c.-99+34370C>G (n.-99+34370C>G) n.4321+43C>G n.4362+43C>G | dbSNP |
17 | g.43090901G>T | CA2638063773 | BRCA1 | c.4185+43C>A (n.4185+43C>A) c.4059+43C>A (n.4059+43C>A) c.4182+43C>A (n.4182+43C>A) c.4107+43C>A (n.4107+43C>A) c.873+43C>A (n.873+43C>A) c.735+43C>A (n.735+43C>A) c.3297+43C>A (n.3297+43C>A) c.4062+43C>A (n.4062+43C>A) c.4044+43C>A (n.4044+43C>A) c.753+43C>A (n.753+43C>A) c.795+43C>A (n.795+43C>A) c.506+43C>A c.759+43C>A (n.759+43C>A) c.*3968+43C>A (n.*3968+43C>A) c.479+43C>A c.876+43C>A (n.876+43C>A) c.498+43C>A (n.498+43C>A) c.501+43C>A (n.501+43C>A) c.5-26950C>A (n.5-26950C>A) c.-43-16380C>A (n.-43-16380C>A) c.-99+34370C>A (n.-99+34370C>A) n.4321+43C>A n.4362+43C>A | dbSNP gnomAD v4 |
17 | g.43090902A>G | CA2733921057 | BRCA1 | c.4185+42T>C (n.4185+42T>C) c.4059+42T>C (n.4059+42T>C) c.4182+42T>C (n.4182+42T>C) c.4107+42T>C (n.4107+42T>C) c.873+42T>C (n.873+42T>C) c.735+42T>C (n.735+42T>C) c.3297+42T>C (n.3297+42T>C) c.4062+42T>C (n.4062+42T>C) c.4044+42T>C (n.4044+42T>C) c.753+42T>C (n.753+42T>C) c.795+42T>C (n.795+42T>C) c.506+42T>C c.759+42T>C (n.759+42T>C) c.*3968+42T>C (n.*3968+42T>C) c.479+42T>C c.876+42T>C (n.876+42T>C) c.498+42T>C (n.498+42T>C) c.501+42T>C (n.501+42T>C) c.5-26951T>C (n.5-26951T>C) c.-43-16381T>C (n.-43-16381T>C) c.-99+34369T>C (n.-99+34369T>C) n.4321+42T>C n.4362+42T>C | dbSNP |
17 | g.43090902A>T | CA2733921074 | BRCA1 | c.4185+42T>A (n.4185+42T>A) c.4059+42T>A (n.4059+42T>A) c.4182+42T>A (n.4182+42T>A) c.4107+42T>A (n.4107+42T>A) c.873+42T>A (n.873+42T>A) c.735+42T>A (n.735+42T>A) c.3297+42T>A (n.3297+42T>A) c.4062+42T>A (n.4062+42T>A) c.4044+42T>A (n.4044+42T>A) c.753+42T>A (n.753+42T>A) c.795+42T>A (n.795+42T>A) c.506+42T>A c.759+42T>A (n.759+42T>A) c.*3968+42T>A (n.*3968+42T>A) c.479+42T>A c.876+42T>A (n.876+42T>A) c.498+42T>A (n.498+42T>A) c.501+42T>A (n.501+42T>A) c.5-26951T>A (n.5-26951T>A) c.-43-16381T>A (n.-43-16381T>A) c.-99+34369T>A (n.-99+34369T>A) n.4321+42T>A n.4362+42T>A | dbSNP |
17 | g.43090903C>A | CA2733921082 | BRCA1 | c.4185+41G>T (n.4185+41G>T) c.4059+41G>T (n.4059+41G>T) c.4182+41G>T (n.4182+41G>T) c.4107+41G>T (n.4107+41G>T) c.873+41G>T (n.873+41G>T) c.735+41G>T (n.735+41G>T) c.3297+41G>T (n.3297+41G>T) c.4062+41G>T (n.4062+41G>T) c.4044+41G>T (n.4044+41G>T) c.753+41G>T (n.753+41G>T) c.795+41G>T (n.795+41G>T) c.506+41G>T c.759+41G>T (n.759+41G>T) c.*3968+41G>T (n.*3968+41G>T) c.479+41G>T c.876+41G>T (n.876+41G>T) c.498+41G>T (n.498+41G>T) c.501+41G>T (n.501+41G>T) c.5-26952G>T (n.5-26952G>T) c.-43-16382G>T (n.-43-16382G>T) c.-99+34368G>T (n.-99+34368G>T) n.4321+41G>T n.4362+41G>T | dbSNP |
17 | g.43090903C>G | CA2638063774 | BRCA1 | c.4185+41G>C (n.4185+41G>C) c.4059+41G>C (n.4059+41G>C) c.4182+41G>C (n.4182+41G>C) c.4107+41G>C (n.4107+41G>C) c.873+41G>C (n.873+41G>C) c.735+41G>C (n.735+41G>C) c.3297+41G>C (n.3297+41G>C) c.4062+41G>C (n.4062+41G>C) c.4044+41G>C (n.4044+41G>C) c.753+41G>C (n.753+41G>C) c.795+41G>C (n.795+41G>C) c.506+41G>C c.759+41G>C (n.759+41G>C) c.*3968+41G>C (n.*3968+41G>C) c.479+41G>C c.876+41G>C (n.876+41G>C) c.498+41G>C (n.498+41G>C) c.501+41G>C (n.501+41G>C) c.5-26952G>C (n.5-26952G>C) c.-43-16382G>C (n.-43-16382G>C) c.-99+34368G>C (n.-99+34368G>C) n.4321+41G>C n.4362+41G>C | dbSNP gnomAD v4 |
17 | g.43090903C>T | CA2733921084 | BRCA1 | c.4185+41G>A (n.4185+41G>A) c.4059+41G>A (n.4059+41G>A) c.4182+41G>A (n.4182+41G>A) c.4107+41G>A (n.4107+41G>A) c.873+41G>A (n.873+41G>A) c.735+41G>A (n.735+41G>A) c.3297+41G>A (n.3297+41G>A) c.4062+41G>A (n.4062+41G>A) c.4044+41G>A (n.4044+41G>A) c.753+41G>A (n.753+41G>A) c.795+41G>A (n.795+41G>A) c.506+41G>A c.759+41G>A (n.759+41G>A) c.*3968+41G>A (n.*3968+41G>A) c.479+41G>A c.876+41G>A (n.876+41G>A) c.498+41G>A (n.498+41G>A) c.501+41G>A (n.501+41G>A) c.5-26952G>A (n.5-26952G>A) c.-43-16382G>A (n.-43-16382G>A) c.-99+34368G>A (n.-99+34368G>A) n.4321+41G>A n.4362+41G>A | dbSNP |
17 | g.43090904A= | CA2260781594 | BRCA1 | c.4185+40T= (n.4185+40T=) c.4059+40T= (n.4059+40T=) c.4182+40T= (n.4182+40T=) c.4107+40T= (n.4107+40T=) c.873+40T= (n.873+40T=) c.735+40T= (n.735+40T=) c.3297+40T= (n.3297+40T=) c.4062+40T= (n.4062+40T=) c.4044+40T= (n.4044+40T=) c.753+40T= (n.753+40T=) c.795+40T= (n.795+40T=) c.506+40T= c.759+40T= (n.759+40T=) c.*3968+40T= (n.*3968+40T=) c.479+40T= c.876+40T= (n.876+40T=) c.498+40T= (n.498+40T=) c.501+40T= (n.501+40T=) c.5-26953T= (n.5-26953T=) c.-43-16383T= (n.-43-16383T=) c.-99+34367T= (n.-99+34367T=) n.4321+40T= n.4362+40T= | |
17 | g.43090904A>C | CA059586 | BRCA1 | c.4185+40T>G (n.4185+40T>G) c.4059+40T>G (n.4059+40T>G) c.4182+40T>G (n.4182+40T>G) c.4107+40T>G (n.4107+40T>G) c.873+40T>G (n.873+40T>G) c.735+40T>G (n.735+40T>G) c.3297+40T>G (n.3297+40T>G) c.4062+40T>G (n.4062+40T>G) c.4044+40T>G (n.4044+40T>G) c.753+40T>G (n.753+40T>G) c.795+40T>G (n.795+40T>G) c.506+40T>G c.759+40T>G (n.759+40T>G) c.*3968+40T>G (n.*3968+40T>G) c.479+40T>G c.876+40T>G (n.876+40T>G) c.498+40T>G (n.498+40T>G) c.501+40T>G (n.501+40T>G) c.5-26953T>G (n.5-26953T>G) c.-43-16383T>G (n.-43-16383T>G) c.-99+34367T>G (n.-99+34367T>G) n.4321+40T>G n.4362+40T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090905C>A | CA2809538962 | BRCA1 | c.4185+39G>T (n.4185+39G>T) c.4059+39G>T (n.4059+39G>T) c.4182+39G>T (n.4182+39G>T) c.4107+39G>T (n.4107+39G>T) c.873+39G>T (n.873+39G>T) c.735+39G>T (n.735+39G>T) c.3297+39G>T (n.3297+39G>T) c.4062+39G>T (n.4062+39G>T) c.4044+39G>T (n.4044+39G>T) c.753+39G>T (n.753+39G>T) c.795+39G>T (n.795+39G>T) c.506+39G>T c.759+39G>T (n.759+39G>T) c.*3968+39G>T (n.*3968+39G>T) c.479+39G>T c.876+39G>T (n.876+39G>T) c.498+39G>T (n.498+39G>T) c.501+39G>T (n.501+39G>T) c.5-26954G>T (n.5-26954G>T) c.-43-16384G>T (n.-43-16384G>T) c.-99+34366G>T (n.-99+34366G>T) n.4321+39G>T n.4362+39G>T | |
17 | g.43090905C= | CA2260781597 | BRCA1 | c.4185+39G= (n.4185+39G=) c.4059+39G= (n.4059+39G=) c.4182+39G= (n.4182+39G=) c.4107+39G= (n.4107+39G=) c.873+39G= (n.873+39G=) c.735+39G= (n.735+39G=) c.3297+39G= (n.3297+39G=) c.4062+39G= (n.4062+39G=) c.4044+39G= (n.4044+39G=) c.753+39G= (n.753+39G=) c.795+39G= (n.795+39G=) c.506+39G= c.759+39G= (n.759+39G=) c.*3968+39G= (n.*3968+39G=) c.479+39G= c.876+39G= (n.876+39G=) c.498+39G= (n.498+39G=) c.501+39G= (n.501+39G=) c.5-26954G= (n.5-26954G=) c.-43-16384G= (n.-43-16384G=) c.-99+34366G= (n.-99+34366G=) n.4321+39G= n.4362+39G= | |
17 | g.43090905C>G | CA2638063778 | BRCA1 | c.4185+39G>C (n.4185+39G>C) c.4059+39G>C (n.4059+39G>C) c.4182+39G>C (n.4182+39G>C) c.4107+39G>C (n.4107+39G>C) c.873+39G>C (n.873+39G>C) c.735+39G>C (n.735+39G>C) c.3297+39G>C (n.3297+39G>C) c.4062+39G>C (n.4062+39G>C) c.4044+39G>C (n.4044+39G>C) c.753+39G>C (n.753+39G>C) c.795+39G>C (n.795+39G>C) c.506+39G>C c.759+39G>C (n.759+39G>C) c.*3968+39G>C (n.*3968+39G>C) c.479+39G>C c.876+39G>C (n.876+39G>C) c.498+39G>C (n.498+39G>C) c.501+39G>C (n.501+39G>C) c.5-26954G>C (n.5-26954G>C) c.-43-16384G>C (n.-43-16384G>C) c.-99+34366G>C (n.-99+34366G>C) n.4321+39G>C n.4362+39G>C | gnomAD v4 |
17 | g.43090905C>T | CA626075625 | BRCA1 | c.4185+39G>A (n.4185+39G>A) c.4059+39G>A (n.4059+39G>A) c.4182+39G>A (n.4182+39G>A) c.4107+39G>A (n.4107+39G>A) c.873+39G>A (n.873+39G>A) c.735+39G>A (n.735+39G>A) c.3297+39G>A (n.3297+39G>A) c.4062+39G>A (n.4062+39G>A) c.4044+39G>A (n.4044+39G>A) c.753+39G>A (n.753+39G>A) c.795+39G>A (n.795+39G>A) c.506+39G>A c.759+39G>A (n.759+39G>A) c.*3968+39G>A (n.*3968+39G>A) c.479+39G>A c.876+39G>A (n.876+39G>A) c.498+39G>A (n.498+39G>A) c.501+39G>A (n.501+39G>A) c.5-26954G>A (n.5-26954G>A) c.-43-16384G>A (n.-43-16384G>A) c.-99+34366G>A (n.-99+34366G>A) n.4321+39G>A n.4362+39G>A | gnomAD v2 gnomAD v4 |
17 | g.43090905_43090907delinsCCA | CA2260781595 | BRCA1 | c.4185+37_4185+39delinsTGG (n.4185+37_4185+39delinsTGG) c.4059+37_4059+39delinsTGG (n.4059+37_4059+39delinsTGG) c.4182+37_4182+39delinsTGG (n.4182+37_4182+39delinsTGG) c.4107+37_4107+39delinsTGG (n.4107+37_4107+39delinsTGG) c.873+37_873+39delinsTGG (n.873+37_873+39delinsTGG) c.735+37_735+39delinsTGG (n.735+37_735+39delinsTGG) c.3297+37_3297+39delinsTGG (n.3297+37_3297+39delinsTGG) c.4062+37_4062+39delinsTGG (n.4062+37_4062+39delinsTGG) c.4044+37_4044+39delinsTGG (n.4044+37_4044+39delinsTGG) c.753+37_753+39delinsTGG (n.753+37_753+39delinsTGG) c.795+37_795+39delinsTGG (n.795+37_795+39delinsTGG) c.506+37_506+39delinsTGG c.759+37_759+39delinsTGG (n.759+37_759+39delinsTGG) c.*3968+37_*3968+39delinsTGG (n.*3968+37_*3968+39delinsTGG) c.479+37_479+39delinsTGG c.876+37_876+39delinsTGG (n.876+37_876+39delinsTGG) c.498+37_498+39delinsTGG (n.498+37_498+39delinsTGG) c.501+37_501+39delinsTGG (n.501+37_501+39delinsTGG) c.5-26956_5-26954delinsTGG (n.5-26956_5-26954delinsTGG) c.-43-16386_-43-16384delinsTGG (n.-43-16386_-43-16384delinsTGG) c.-99+34364_-99+34366delinsTGG (n.-99+34364_-99+34366delinsTGG) n.4321+37_4321+39delinsTGG n.4362+37_4362+39delinsTGG | |
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.43090906C>G | CA2638063783 | BRCA1 | c.4185+38G>C (n.4185+38G>C) c.4059+38G>C (n.4059+38G>C) c.4182+38G>C (n.4182+38G>C) c.4107+38G>C (n.4107+38G>C) c.873+38G>C (n.873+38G>C) c.735+38G>C (n.735+38G>C) c.3297+38G>C (n.3297+38G>C) c.4062+38G>C (n.4062+38G>C) c.4044+38G>C (n.4044+38G>C) c.753+38G>C (n.753+38G>C) c.795+38G>C (n.795+38G>C) c.506+38G>C c.759+38G>C (n.759+38G>C) c.*3968+38G>C (n.*3968+38G>C) c.479+38G>C c.876+38G>C (n.876+38G>C) c.498+38G>C (n.498+38G>C) c.501+38G>C (n.501+38G>C) c.5-26955G>C (n.5-26955G>C) c.-43-16385G>C (n.-43-16385G>C) c.-99+34365G>C (n.-99+34365G>C) n.4321+38G>C n.4362+38G>C | gnomAD v4 |
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.43090907A>C | CA2576282501 | BRCA1 | c.4185+37T>G (n.4185+37T>G) c.4059+37T>G (n.4059+37T>G) c.4182+37T>G (n.4182+37T>G) c.4107+37T>G (n.4107+37T>G) c.873+37T>G (n.873+37T>G) c.735+37T>G (n.735+37T>G) c.3297+37T>G (n.3297+37T>G) c.4062+37T>G (n.4062+37T>G) c.4044+37T>G (n.4044+37T>G) c.753+37T>G (n.753+37T>G) c.795+37T>G (n.795+37T>G) c.506+37T>G c.759+37T>G (n.759+37T>G) c.*3968+37T>G (n.*3968+37T>G) c.479+37T>G c.876+37T>G (n.876+37T>G) c.498+37T>G (n.498+37T>G) c.501+37T>G (n.501+37T>G) c.5-26956T>G (n.5-26956T>G) c.-43-16386T>G (n.-43-16386T>G) c.-99+34364T>G (n.-99+34364T>G) n.4321+37T>G n.4362+37T>G | dbSNP |
17 | g.43090907A>G | CA2733921220 | BRCA1 | c.4185+37T>C (n.4185+37T>C) c.4059+37T>C (n.4059+37T>C) c.4182+37T>C (n.4182+37T>C) c.4107+37T>C (n.4107+37T>C) c.873+37T>C (n.873+37T>C) c.735+37T>C (n.735+37T>C) c.3297+37T>C (n.3297+37T>C) c.4062+37T>C (n.4062+37T>C) c.4044+37T>C (n.4044+37T>C) c.753+37T>C (n.753+37T>C) c.795+37T>C (n.795+37T>C) c.506+37T>C c.759+37T>C (n.759+37T>C) c.*3968+37T>C (n.*3968+37T>C) c.479+37T>C c.876+37T>C (n.876+37T>C) c.498+37T>C (n.498+37T>C) c.501+37T>C (n.501+37T>C) c.5-26956T>C (n.5-26956T>C) c.-43-16386T>C (n.-43-16386T>C) c.-99+34364T>C (n.-99+34364T>C) n.4321+37T>C n.4362+37T>C | dbSNP |
17 | g.43090907A>T | CA2733921261 | BRCA1 | c.4185+37T>A (n.4185+37T>A) c.4059+37T>A (n.4059+37T>A) c.4182+37T>A (n.4182+37T>A) c.4107+37T>A (n.4107+37T>A) c.873+37T>A (n.873+37T>A) c.735+37T>A (n.735+37T>A) c.3297+37T>A (n.3297+37T>A) c.4062+37T>A (n.4062+37T>A) c.4044+37T>A (n.4044+37T>A) c.753+37T>A (n.753+37T>A) c.795+37T>A (n.795+37T>A) c.506+37T>A c.759+37T>A (n.759+37T>A) c.*3968+37T>A (n.*3968+37T>A) c.479+37T>A c.876+37T>A (n.876+37T>A) c.498+37T>A (n.498+37T>A) c.501+37T>A (n.501+37T>A) c.5-26956T>A (n.5-26956T>A) c.-43-16386T>A (n.-43-16386T>A) c.-99+34364T>A (n.-99+34364T>A) n.4321+37T>A n.4362+37T>A | dbSNP |
17 | g.43090908C>G | CA2733921311 | BRCA1 | c.4185+36G>C (n.4185+36G>C) c.4059+36G>C (n.4059+36G>C) c.4182+36G>C (n.4182+36G>C) c.4107+36G>C (n.4107+36G>C) c.873+36G>C (n.873+36G>C) c.735+36G>C (n.735+36G>C) c.3297+36G>C (n.3297+36G>C) c.4062+36G>C (n.4062+36G>C) c.4044+36G>C (n.4044+36G>C) c.753+36G>C (n.753+36G>C) c.795+36G>C (n.795+36G>C) c.506+36G>C c.759+36G>C (n.759+36G>C) c.*3968+36G>C (n.*3968+36G>C) c.479+36G>C c.876+36G>C (n.876+36G>C) c.498+36G>C (n.498+36G>C) c.501+36G>C (n.501+36G>C) c.5-26957G>C (n.5-26957G>C) c.-43-16387G>C (n.-43-16387G>C) c.-99+34363G>C (n.-99+34363G>C) n.4321+36G>C n.4362+36G>C | dbSNP |
17 | g.43090908C>T | CA2733921350 | BRCA1 | c.4185+36G>A (n.4185+36G>A) c.4059+36G>A (n.4059+36G>A) c.4182+36G>A (n.4182+36G>A) c.4107+36G>A (n.4107+36G>A) c.873+36G>A (n.873+36G>A) c.735+36G>A (n.735+36G>A) c.3297+36G>A (n.3297+36G>A) c.4062+36G>A (n.4062+36G>A) c.4044+36G>A (n.4044+36G>A) c.753+36G>A (n.753+36G>A) c.795+36G>A (n.795+36G>A) c.506+36G>A c.759+36G>A (n.759+36G>A) c.*3968+36G>A (n.*3968+36G>A) c.479+36G>A c.876+36G>A (n.876+36G>A) c.498+36G>A (n.498+36G>A) c.501+36G>A (n.501+36G>A) c.5-26957G>A (n.5-26957G>A) c.-43-16387G>A (n.-43-16387G>A) c.-99+34363G>A (n.-99+34363G>A) n.4321+36G>A n.4362+36G>A | dbSNP |
17 | g.43090909A>G | CA2576282502 | BRCA1 | c.4185+35T>C (n.4185+35T>C) c.4059+35T>C (n.4059+35T>C) c.4182+35T>C (n.4182+35T>C) c.4107+35T>C (n.4107+35T>C) c.873+35T>C (n.873+35T>C) c.735+35T>C (n.735+35T>C) c.3297+35T>C (n.3297+35T>C) c.4062+35T>C (n.4062+35T>C) c.4044+35T>C (n.4044+35T>C) c.753+35T>C (n.753+35T>C) c.795+35T>C (n.795+35T>C) c.506+35T>C c.759+35T>C (n.759+35T>C) c.*3968+35T>C (n.*3968+35T>C) c.479+35T>C c.876+35T>C (n.876+35T>C) c.498+35T>C (n.498+35T>C) c.501+35T>C (n.501+35T>C) c.5-26958T>C (n.5-26958T>C) c.-43-16388T>C (n.-43-16388T>C) c.-99+34362T>C (n.-99+34362T>C) n.4321+35T>C n.4362+35T>C | gnomAD v4 |
17 | g.43090910C>A | CA2733655723 | BRCA1 | c.4185+34G>T (n.4185+34G>T) c.4059+34G>T (n.4059+34G>T) c.4182+34G>T (n.4182+34G>T) c.4107+34G>T (n.4107+34G>T) c.873+34G>T (n.873+34G>T) c.735+34G>T (n.735+34G>T) c.3297+34G>T (n.3297+34G>T) c.4062+34G>T (n.4062+34G>T) c.4044+34G>T (n.4044+34G>T) c.753+34G>T (n.753+34G>T) c.795+34G>T (n.795+34G>T) c.506+34G>T c.759+34G>T (n.759+34G>T) c.*3968+34G>T (n.*3968+34G>T) c.479+34G>T c.876+34G>T (n.876+34G>T) c.498+34G>T (n.498+34G>T) c.501+34G>T (n.501+34G>T) c.5-26959G>T (n.5-26959G>T) c.-43-16389G>T (n.-43-16389G>T) c.-99+34361G>T (n.-99+34361G>T) n.4321+34G>T n.4362+34G>T | dbSNP |
17 | g.43090910C= | CA2260781599 | BRCA1 | c.4185+34G= (n.4185+34G=) c.4059+34G= (n.4059+34G=) c.4182+34G= (n.4182+34G=) c.4107+34G= (n.4107+34G=) c.873+34G= (n.873+34G=) c.735+34G= (n.735+34G=) c.3297+34G= (n.3297+34G=) c.4062+34G= (n.4062+34G=) c.4044+34G= (n.4044+34G=) c.753+34G= (n.753+34G=) c.795+34G= (n.795+34G=) c.506+34G= c.759+34G= (n.759+34G=) c.*3968+34G= (n.*3968+34G=) c.479+34G= c.876+34G= (n.876+34G=) c.498+34G= (n.498+34G=) c.501+34G= (n.501+34G=) c.5-26959G= (n.5-26959G=) c.-43-16389G= (n.-43-16389G=) c.-99+34361G= (n.-99+34361G=) n.4321+34G= n.4362+34G= | |
17 | g.43090910C>G | CA2638063791 | BRCA1 | c.4185+34G>C (n.4185+34G>C) c.4059+34G>C (n.4059+34G>C) c.4182+34G>C (n.4182+34G>C) c.4107+34G>C (n.4107+34G>C) c.873+34G>C (n.873+34G>C) c.735+34G>C (n.735+34G>C) c.3297+34G>C (n.3297+34G>C) c.4062+34G>C (n.4062+34G>C) c.4044+34G>C (n.4044+34G>C) c.753+34G>C (n.753+34G>C) c.795+34G>C (n.795+34G>C) c.506+34G>C c.759+34G>C (n.759+34G>C) c.*3968+34G>C (n.*3968+34G>C) c.479+34G>C c.876+34G>C (n.876+34G>C) c.498+34G>C (n.498+34G>C) c.501+34G>C (n.501+34G>C) c.5-26959G>C (n.5-26959G>C) c.-43-16389G>C (n.-43-16389G>C) c.-99+34361G>C (n.-99+34361G>C) n.4321+34G>C n.4362+34G>C | dbSNP gnomAD v4 |
17 | g.43090910C>T | CA290810814 | BRCA1 | c.4185+34G>A (n.4185+34G>A) c.4059+34G>A (n.4059+34G>A) c.4182+34G>A (n.4182+34G>A) c.4107+34G>A (n.4107+34G>A) c.873+34G>A (n.873+34G>A) c.735+34G>A (n.735+34G>A) c.3297+34G>A (n.3297+34G>A) c.4062+34G>A (n.4062+34G>A) c.4044+34G>A (n.4044+34G>A) c.753+34G>A (n.753+34G>A) c.795+34G>A (n.795+34G>A) c.506+34G>A c.759+34G>A (n.759+34G>A) c.*3968+34G>A (n.*3968+34G>A) c.479+34G>A c.876+34G>A (n.876+34G>A) c.498+34G>A (n.498+34G>A) c.501+34G>A (n.501+34G>A) c.5-26959G>A (n.5-26959G>A) c.-43-16389G>A (n.-43-16389G>A) c.-99+34361G>A (n.-99+34361G>A) n.4321+34G>A n.4362+34G>A | ClinVar dbSNP gnomAD v3 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 |
17 | g.43090923A= | CA2260781609 | BRCA1 | c.4185+21T= (n.4185+21T=) c.4059+21T= (n.4059+21T=) c.4182+21T= (n.4182+21T=) c.4107+21T= (n.4107+21T=) c.873+21T= (n.873+21T=) c.735+21T= (n.735+21T=) c.3297+21T= (n.3297+21T=) c.4062+21T= (n.4062+21T=) c.4044+21T= (n.4044+21T=) c.753+21T= (n.753+21T=) c.795+21T= (n.795+21T=) c.506+21T= c.759+21T= (n.759+21T=) c.*3968+21T= (n.*3968+21T=) c.479+21T= c.876+21T= (n.876+21T=) c.498+21T= (n.498+21T=) c.501+21T= (n.501+21T=) c.5-26972T= (n.5-26972T=) c.-43-16402T= (n.-43-16402T=) c.-99+34348T= (n.-99+34348T=) n.4321+21T= n.4362+21T= | |
17 | g.43090923A>C | CA2733660870 | BRCA1 | c.4185+21T>G (n.4185+21T>G) c.4059+21T>G (n.4059+21T>G) c.4182+21T>G (n.4182+21T>G) c.4107+21T>G (n.4107+21T>G) c.873+21T>G (n.873+21T>G) c.735+21T>G (n.735+21T>G) c.3297+21T>G (n.3297+21T>G) c.4062+21T>G (n.4062+21T>G) c.4044+21T>G (n.4044+21T>G) c.753+21T>G (n.753+21T>G) c.795+21T>G (n.795+21T>G) c.506+21T>G c.759+21T>G (n.759+21T>G) c.*3968+21T>G (n.*3968+21T>G) c.479+21T>G c.876+21T>G (n.876+21T>G) c.498+21T>G (n.498+21T>G) c.501+21T>G (n.501+21T>G) c.5-26972T>G (n.5-26972T>G) c.-43-16402T>G (n.-43-16402T>G) c.-99+34348T>G (n.-99+34348T>G) n.4321+21T>G n.4362+21T>G | dbSNP |
17 | g.43090923A>G | CA626075638 | BRCA1 | c.4185+21T>C (n.4185+21T>C) c.4059+21T>C (n.4059+21T>C) c.4182+21T>C (n.4182+21T>C) c.4107+21T>C (n.4107+21T>C) c.873+21T>C (n.873+21T>C) c.735+21T>C (n.735+21T>C) c.3297+21T>C (n.3297+21T>C) c.4062+21T>C (n.4062+21T>C) c.4044+21T>C (n.4044+21T>C) c.753+21T>C (n.753+21T>C) c.795+21T>C (n.795+21T>C) c.506+21T>C c.759+21T>C (n.759+21T>C) c.*3968+21T>C (n.*3968+21T>C) c.479+21T>C c.876+21T>C (n.876+21T>C) c.498+21T>C (n.498+21T>C) c.501+21T>C (n.501+21T>C) c.5-26972T>C (n.5-26972T>C) c.-43-16402T>C (n.-43-16402T>C) c.-99+34348T>C (n.-99+34348T>C) n.4321+21T>C n.4362+21T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090923A>T | CA2733660869 | BRCA1 | c.4185+21T>A (n.4185+21T>A) c.4059+21T>A (n.4059+21T>A) c.4182+21T>A (n.4182+21T>A) c.4107+21T>A (n.4107+21T>A) c.873+21T>A (n.873+21T>A) c.735+21T>A (n.735+21T>A) c.3297+21T>A (n.3297+21T>A) c.4062+21T>A (n.4062+21T>A) c.4044+21T>A (n.4044+21T>A) c.753+21T>A (n.753+21T>A) c.795+21T>A (n.795+21T>A) c.506+21T>A c.759+21T>A (n.759+21T>A) c.*3968+21T>A (n.*3968+21T>A) c.479+21T>A c.876+21T>A (n.876+21T>A) c.498+21T>A (n.498+21T>A) c.501+21T>A (n.501+21T>A) c.5-26972T>A (n.5-26972T>A) c.-43-16402T>A (n.-43-16402T>A) c.-99+34348T>A (n.-99+34348T>A) n.4321+21T>A n.4362+21T>A | dbSNP |
17 | g.43090923_43090942del | CA2499224432 | BRCA1 | c.4185+2_4185+21del (n.4185+2_4185+21del) c.4059+2_4059+21del (n.4059+2_4059+21del) c.4182+2_4182+21del (n.4182+2_4182+21del) c.4107+2_4107+21del (n.4107+2_4107+21del) c.873+2_873+21del (n.873+2_873+21del) c.735+2_735+21del (n.735+2_735+21del) c.3297+2_3297+21del (n.3297+2_3297+21del) c.4062+2_4062+21del (n.4062+2_4062+21del) c.4044+2_4044+21del (n.4044+2_4044+21del) c.753+2_753+21del (n.753+2_753+21del) c.795+2_795+21del (n.795+2_795+21del) c.506+2_506+21del c.759+2_759+21del (n.759+2_759+21del) c.*3968+2_*3968+21del (n.*3968+2_*3968+21del) c.479+2_479+21del c.876+2_876+21del (n.876+2_876+21del) c.498+2_498+21del (n.498+2_498+21del) c.501+2_501+21del (n.501+2_501+21del) c.5-26991_5-26972del (n.5-26991_5-26972del) c.-43-16421_-43-16402del (n.-43-16421_-43-16402del) c.-99+34329_-99+34348del (n.-99+34329_-99+34348del) n.4321+2_4321+21del n.4362+2_4362+21del | ClinVar dbSNP |
17 | g.43090924C= | CA2260781610 | BRCA1 | c.4185+20G= (n.4185+20G=) c.4059+20G= (n.4059+20G=) c.4182+20G= (n.4182+20G=) c.4107+20G= (n.4107+20G=) c.873+20G= (n.873+20G=) c.735+20G= (n.735+20G=) c.3297+20G= (n.3297+20G=) c.4062+20G= (n.4062+20G=) c.4044+20G= (n.4044+20G=) c.753+20G= (n.753+20G=) c.795+20G= (n.795+20G=) c.506+20G= c.759+20G= (n.759+20G=) c.*3968+20G= (n.*3968+20G=) c.479+20G= c.876+20G= (n.876+20G=) c.498+20G= (n.498+20G=) c.501+20G= (n.501+20G=) c.5-26973G= (n.5-26973G=) c.-43-16403G= (n.-43-16403G=) c.-99+34347G= (n.-99+34347G=) n.4321+20G= n.4362+20G= | |
17 | g.43090924C>G | CA2733677414 | BRCA1 | c.4185+20G>C (n.4185+20G>C) c.4059+20G>C (n.4059+20G>C) c.4182+20G>C (n.4182+20G>C) c.4107+20G>C (n.4107+20G>C) c.873+20G>C (n.873+20G>C) c.735+20G>C (n.735+20G>C) c.3297+20G>C (n.3297+20G>C) c.4062+20G>C (n.4062+20G>C) c.4044+20G>C (n.4044+20G>C) c.753+20G>C (n.753+20G>C) c.795+20G>C (n.795+20G>C) c.506+20G>C c.759+20G>C (n.759+20G>C) c.*3968+20G>C (n.*3968+20G>C) c.479+20G>C c.876+20G>C (n.876+20G>C) c.498+20G>C (n.498+20G>C) c.501+20G>C (n.501+20G>C) c.5-26973G>C (n.5-26973G>C) c.-43-16403G>C (n.-43-16403G>C) c.-99+34347G>C (n.-99+34347G>C) n.4321+20G>C n.4362+20G>C | dbSNP |
17 | g.43090924C>T | CA915950069 | BRCA1 | c.4185+20G>A (n.4185+20G>A) c.4059+20G>A (n.4059+20G>A) c.4182+20G>A (n.4182+20G>A) c.4107+20G>A (n.4107+20G>A) c.873+20G>A (n.873+20G>A) c.735+20G>A (n.735+20G>A) c.3297+20G>A (n.3297+20G>A) c.4062+20G>A (n.4062+20G>A) c.4044+20G>A (n.4044+20G>A) c.753+20G>A (n.753+20G>A) c.795+20G>A (n.795+20G>A) c.506+20G>A c.759+20G>A (n.759+20G>A) c.*3968+20G>A (n.*3968+20G>A) c.479+20G>A c.876+20G>A (n.876+20G>A) c.498+20G>A (n.498+20G>A) c.501+20G>A (n.501+20G>A) c.5-26973G>A (n.5-26973G>A) c.-43-16403G>A (n.-43-16403G>A) c.-99+34347G>A (n.-99+34347G>A) n.4321+20G>A n.4362+20G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43090925A>C | CA2733921636 | BRCA1 | c.4185+19T>G (n.4185+19T>G) c.4059+19T>G (n.4059+19T>G) c.4182+19T>G (n.4182+19T>G) c.4107+19T>G (n.4107+19T>G) c.873+19T>G (n.873+19T>G) c.735+19T>G (n.735+19T>G) c.3297+19T>G (n.3297+19T>G) c.4062+19T>G (n.4062+19T>G) c.4044+19T>G (n.4044+19T>G) c.753+19T>G (n.753+19T>G) c.795+19T>G (n.795+19T>G) c.506+19T>G c.759+19T>G (n.759+19T>G) c.*3968+19T>G (n.*3968+19T>G) c.479+19T>G c.876+19T>G (n.876+19T>G) c.498+19T>G (n.498+19T>G) c.501+19T>G (n.501+19T>G) c.5-26974T>G (n.5-26974T>G) c.-43-16404T>G (n.-43-16404T>G) c.-99+34346T>G (n.-99+34346T>G) n.4321+19T>G n.4362+19T>G | dbSNP |
17 | g.43090925A>G | CA2580094027 | BRCA1 | c.4185+19T>C (n.4185+19T>C) c.4059+19T>C (n.4059+19T>C) c.4182+19T>C (n.4182+19T>C) c.4107+19T>C (n.4107+19T>C) c.873+19T>C (n.873+19T>C) c.735+19T>C (n.735+19T>C) c.3297+19T>C (n.3297+19T>C) c.4062+19T>C (n.4062+19T>C) c.4044+19T>C (n.4044+19T>C) c.753+19T>C (n.753+19T>C) c.795+19T>C (n.795+19T>C) c.506+19T>C c.759+19T>C (n.759+19T>C) c.*3968+19T>C (n.*3968+19T>C) c.479+19T>C c.876+19T>C (n.876+19T>C) c.498+19T>C (n.498+19T>C) c.501+19T>C (n.501+19T>C) c.5-26974T>C (n.5-26974T>C) c.-43-16404T>C (n.-43-16404T>C) c.-99+34346T>C (n.-99+34346T>C) n.4321+19T>C n.4362+19T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43090925A>T | CA2733921711 | BRCA1 | c.4185+19T>A (n.4185+19T>A) c.4059+19T>A (n.4059+19T>A) c.4182+19T>A (n.4182+19T>A) c.4107+19T>A (n.4107+19T>A) c.873+19T>A (n.873+19T>A) c.735+19T>A (n.735+19T>A) c.3297+19T>A (n.3297+19T>A) c.4062+19T>A (n.4062+19T>A) c.4044+19T>A (n.4044+19T>A) c.753+19T>A (n.753+19T>A) c.795+19T>A (n.795+19T>A) c.506+19T>A c.759+19T>A (n.759+19T>A) c.*3968+19T>A (n.*3968+19T>A) c.479+19T>A c.876+19T>A (n.876+19T>A) c.498+19T>A (n.498+19T>A) c.501+19T>A (n.501+19T>A) c.5-26974T>A (n.5-26974T>A) c.-43-16404T>A (n.-43-16404T>A) c.-99+34346T>A (n.-99+34346T>A) n.4321+19T>A n.4362+19T>A | dbSNP |
17 | g.43090925_43090926delinsAC | CA2260781611 | BRCA1 | c.4185+18_4185+19delinsGT (n.4185+18_4185+19delinsGT) c.4059+18_4059+19delinsGT (n.4059+18_4059+19delinsGT) c.4182+18_4182+19delinsGT (n.4182+18_4182+19delinsGT) c.4107+18_4107+19delinsGT (n.4107+18_4107+19delinsGT) c.873+18_873+19delinsGT (n.873+18_873+19delinsGT) c.735+18_735+19delinsGT (n.735+18_735+19delinsGT) c.3297+18_3297+19delinsGT (n.3297+18_3297+19delinsGT) c.4062+18_4062+19delinsGT (n.4062+18_4062+19delinsGT) c.4044+18_4044+19delinsGT (n.4044+18_4044+19delinsGT) c.753+18_753+19delinsGT (n.753+18_753+19delinsGT) c.795+18_795+19delinsGT (n.795+18_795+19delinsGT) c.506+18_506+19delinsGT c.759+18_759+19delinsGT (n.759+18_759+19delinsGT) c.*3968+18_*3968+19delinsGT (n.*3968+18_*3968+19delinsGT) c.479+18_479+19delinsGT c.876+18_876+19delinsGT (n.876+18_876+19delinsGT) c.498+18_498+19delinsGT (n.498+18_498+19delinsGT) c.501+18_501+19delinsGT (n.501+18_501+19delinsGT) c.5-26975_5-26974delinsGT (n.5-26975_5-26974delinsGT) c.-43-16405_-43-16404delinsGT (n.-43-16405_-43-16404delinsGT) c.-99+34345_-99+34346delinsGT (n.-99+34345_-99+34346delinsGT) n.4321+18_4321+19delinsGT n.4362+18_4362+19delinsGT | |
17 | g.43090926del | CA915950070 | BRCA1 | c.4185+18del (n.4185+18del) c.4059+18del (n.4059+18del) c.4182+18del (n.4182+18del) c.4107+18del (n.4107+18del) c.873+18del (n.873+18del) c.735+18del (n.735+18del) c.3297+18del (n.3297+18del) c.4062+18del (n.4062+18del) c.4044+18del (n.4044+18del) c.753+18del (n.753+18del) c.795+18del (n.795+18del) c.506+18del c.759+18del (n.759+18del) c.*3968+18del (n.*3968+18del) c.479+18del c.876+18del (n.876+18del) c.498+18del (n.498+18del) c.501+18del (n.501+18del) c.5-26975del (n.5-26975del) c.-43-16405del (n.-43-16405del) c.-99+34345del (n.-99+34345del) n.4321+18del n.4362+18del | ClinVar dbSNP |
17 | g.43090926C>A | CA2733670898 | BRCA1 | c.4185+18G>T (n.4185+18G>T) c.4059+18G>T (n.4059+18G>T) c.4182+18G>T (n.4182+18G>T) c.4107+18G>T (n.4107+18G>T) c.873+18G>T (n.873+18G>T) c.735+18G>T (n.735+18G>T) c.3297+18G>T (n.3297+18G>T) c.4062+18G>T (n.4062+18G>T) c.4044+18G>T (n.4044+18G>T) c.753+18G>T (n.753+18G>T) c.795+18G>T (n.795+18G>T) c.506+18G>T c.759+18G>T (n.759+18G>T) c.*3968+18G>T (n.*3968+18G>T) c.479+18G>T c.876+18G>T (n.876+18G>T) c.498+18G>T (n.498+18G>T) c.501+18G>T (n.501+18G>T) c.5-26975G>T (n.5-26975G>T) c.-43-16405G>T (n.-43-16405G>T) c.-99+34345G>T (n.-99+34345G>T) n.4321+18G>T n.4362+18G>T | dbSNP |
17 | g.43090926C= | CA2260781612 | BRCA1 | c.4185+18G= (n.4185+18G=) c.4059+18G= (n.4059+18G=) c.4182+18G= (n.4182+18G=) c.4107+18G= (n.4107+18G=) c.873+18G= (n.873+18G=) c.735+18G= (n.735+18G=) c.3297+18G= (n.3297+18G=) c.4062+18G= (n.4062+18G=) c.4044+18G= (n.4044+18G=) c.753+18G= (n.753+18G=) c.795+18G= (n.795+18G=) c.506+18G= c.759+18G= (n.759+18G=) c.*3968+18G= (n.*3968+18G=) c.479+18G= c.876+18G= (n.876+18G=) c.498+18G= (n.498+18G=) c.501+18G= (n.501+18G=) c.5-26975G= (n.5-26975G=) c.-43-16405G= (n.-43-16405G=) c.-99+34345G= (n.-99+34345G=) n.4321+18G= n.4362+18G= | |
17 | g.43090926C>G | CA2733670899 | BRCA1 | c.4185+18G>C (n.4185+18G>C) c.4059+18G>C (n.4059+18G>C) c.4182+18G>C (n.4182+18G>C) c.4107+18G>C (n.4107+18G>C) c.873+18G>C (n.873+18G>C) c.735+18G>C (n.735+18G>C) c.3297+18G>C (n.3297+18G>C) c.4062+18G>C (n.4062+18G>C) c.4044+18G>C (n.4044+18G>C) c.753+18G>C (n.753+18G>C) c.795+18G>C (n.795+18G>C) c.506+18G>C c.759+18G>C (n.759+18G>C) c.*3968+18G>C (n.*3968+18G>C) c.479+18G>C c.876+18G>C (n.876+18G>C) c.498+18G>C (n.498+18G>C) c.501+18G>C (n.501+18G>C) c.5-26975G>C (n.5-26975G>C) c.-43-16405G>C (n.-43-16405G>C) c.-99+34345G>C (n.-99+34345G>C) n.4321+18G>C n.4362+18G>C | dbSNP |
17 | g.43090926C>T | CA626075641 | BRCA1 | c.4185+18G>A (n.4185+18G>A) c.4059+18G>A (n.4059+18G>A) c.4182+18G>A (n.4182+18G>A) c.4107+18G>A (n.4107+18G>A) c.873+18G>A (n.873+18G>A) c.735+18G>A (n.735+18G>A) c.3297+18G>A (n.3297+18G>A) c.4062+18G>A (n.4062+18G>A) c.4044+18G>A (n.4044+18G>A) c.753+18G>A (n.753+18G>A) c.795+18G>A (n.795+18G>A) c.506+18G>A c.759+18G>A (n.759+18G>A) c.*3968+18G>A (n.*3968+18G>A) c.479+18G>A c.876+18G>A (n.876+18G>A) c.498+18G>A (n.498+18G>A) c.501+18G>A (n.501+18G>A) c.5-26975G>A (n.5-26975G>A) c.-43-16405G>A (n.-43-16405G>A) c.-99+34345G>A (n.-99+34345G>A) n.4321+18G>A n.4362+18G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090927A>C | CA2733921716 | BRCA1 | c.4185+17T>G (n.4185+17T>G) c.4059+17T>G (n.4059+17T>G) c.4182+17T>G (n.4182+17T>G) c.4107+17T>G (n.4107+17T>G) c.873+17T>G (n.873+17T>G) c.735+17T>G (n.735+17T>G) c.3297+17T>G (n.3297+17T>G) c.4062+17T>G (n.4062+17T>G) c.4044+17T>G (n.4044+17T>G) c.753+17T>G (n.753+17T>G) c.795+17T>G (n.795+17T>G) c.506+17T>G c.759+17T>G (n.759+17T>G) c.*3968+17T>G (n.*3968+17T>G) c.479+17T>G c.876+17T>G (n.876+17T>G) c.498+17T>G (n.498+17T>G) c.501+17T>G (n.501+17T>G) c.5-26976T>G (n.5-26976T>G) c.-43-16406T>G (n.-43-16406T>G) c.-99+34344T>G (n.-99+34344T>G) n.4321+17T>G n.4362+17T>G | dbSNP |
17 | g.43090927A>G | CA2499224433 | BRCA1 | c.4185+17T>C (n.4185+17T>C) c.4059+17T>C (n.4059+17T>C) c.4182+17T>C (n.4182+17T>C) c.4107+17T>C (n.4107+17T>C) c.873+17T>C (n.873+17T>C) c.735+17T>C (n.735+17T>C) c.3297+17T>C (n.3297+17T>C) c.4062+17T>C (n.4062+17T>C) c.4044+17T>C (n.4044+17T>C) c.753+17T>C (n.753+17T>C) c.795+17T>C (n.795+17T>C) c.506+17T>C c.759+17T>C (n.759+17T>C) c.*3968+17T>C (n.*3968+17T>C) c.479+17T>C c.876+17T>C (n.876+17T>C) c.498+17T>C (n.498+17T>C) c.501+17T>C (n.501+17T>C) c.5-26976T>C (n.5-26976T>C) c.-43-16406T>C (n.-43-16406T>C) c.-99+34344T>C (n.-99+34344T>C) n.4321+17T>C n.4362+17T>C | ClinVar dbSNP |
17 | g.43090927A>T | CA2733921983 | BRCA1 | c.4185+17T>A (n.4185+17T>A) c.4059+17T>A (n.4059+17T>A) c.4182+17T>A (n.4182+17T>A) c.4107+17T>A (n.4107+17T>A) c.873+17T>A (n.873+17T>A) c.735+17T>A (n.735+17T>A) c.3297+17T>A (n.3297+17T>A) c.4062+17T>A (n.4062+17T>A) c.4044+17T>A (n.4044+17T>A) c.753+17T>A (n.753+17T>A) c.795+17T>A (n.795+17T>A) c.506+17T>A c.759+17T>A (n.759+17T>A) c.*3968+17T>A (n.*3968+17T>A) c.479+17T>A c.876+17T>A (n.876+17T>A) c.498+17T>A (n.498+17T>A) c.501+17T>A (n.501+17T>A) c.5-26976T>A (n.5-26976T>A) c.-43-16406T>A (n.-43-16406T>A) c.-99+34344T>A (n.-99+34344T>A) n.4321+17T>A n.4362+17T>A | dbSNP |
17 | g.43090927_43090928delinsAC | CA2260781613 | BRCA1 | c.4185+16_4185+17delinsGT (n.4185+16_4185+17delinsGT) c.4059+16_4059+17delinsGT (n.4059+16_4059+17delinsGT) c.4182+16_4182+17delinsGT (n.4182+16_4182+17delinsGT) c.4107+16_4107+17delinsGT (n.4107+16_4107+17delinsGT) c.873+16_873+17delinsGT (n.873+16_873+17delinsGT) c.735+16_735+17delinsGT (n.735+16_735+17delinsGT) c.3297+16_3297+17delinsGT (n.3297+16_3297+17delinsGT) c.4062+16_4062+17delinsGT (n.4062+16_4062+17delinsGT) c.4044+16_4044+17delinsGT (n.4044+16_4044+17delinsGT) c.753+16_753+17delinsGT (n.753+16_753+17delinsGT) c.795+16_795+17delinsGT (n.795+16_795+17delinsGT) c.506+16_506+17delinsGT c.759+16_759+17delinsGT (n.759+16_759+17delinsGT) c.*3968+16_*3968+17delinsGT (n.*3968+16_*3968+17delinsGT) c.479+16_479+17delinsGT c.876+16_876+17delinsGT (n.876+16_876+17delinsGT) c.498+16_498+17delinsGT (n.498+16_498+17delinsGT) c.501+16_501+17delinsGT (n.501+16_501+17delinsGT) c.5-26977_5-26976delinsGT (n.5-26977_5-26976delinsGT) c.-43-16407_-43-16406delinsGT (n.-43-16407_-43-16406delinsGT) c.-99+34343_-99+34344delinsGT (n.-99+34343_-99+34344delinsGT) n.4321+16_4321+17delinsGT n.4362+16_4362+17delinsGT | |
17 | g.43090928del | CA915950071 | BRCA1 | c.4185+16del (n.4185+16del) c.4059+16del (n.4059+16del) c.4182+16del (n.4182+16del) c.4107+16del (n.4107+16del) c.873+16del (n.873+16del) c.735+16del (n.735+16del) c.3297+16del (n.3297+16del) c.4062+16del (n.4062+16del) c.4044+16del (n.4044+16del) c.753+16del (n.753+16del) c.795+16del (n.795+16del) c.506+16del c.759+16del (n.759+16del) c.*3968+16del (n.*3968+16del) c.479+16del c.876+16del (n.876+16del) c.498+16del (n.498+16del) c.501+16del (n.501+16del) c.5-26977del (n.5-26977del) c.-43-16407del (n.-43-16407del) c.-99+34343del (n.-99+34343del) n.4321+16del n.4362+16del | ClinVar dbSNP |
17 | g.43090928C>A | CA059547 | BRCA1 | c.4185+16G>T (n.4185+16G>T) c.4059+16G>T (n.4059+16G>T) c.4182+16G>T (n.4182+16G>T) c.4107+16G>T (n.4107+16G>T) c.873+16G>T (n.873+16G>T) c.735+16G>T (n.735+16G>T) c.3297+16G>T (n.3297+16G>T) c.4062+16G>T (n.4062+16G>T) c.4044+16G>T (n.4044+16G>T) c.753+16G>T (n.753+16G>T) c.795+16G>T (n.795+16G>T) c.506+16G>T c.759+16G>T (n.759+16G>T) c.*3968+16G>T (n.*3968+16G>T) c.479+16G>T c.876+16G>T (n.876+16G>T) c.498+16G>T (n.498+16G>T) c.501+16G>T (n.501+16G>T) c.5-26977G>T (n.5-26977G>T) c.-43-16407G>T (n.-43-16407G>T) c.-99+34343G>T (n.-99+34343G>T) n.4321+16G>T n.4362+16G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090928C= | CA2260781614 | BRCA1 | c.4185+16G= (n.4185+16G=) c.4059+16G= (n.4059+16G=) c.4182+16G= (n.4182+16G=) c.4107+16G= (n.4107+16G=) c.873+16G= (n.873+16G=) c.735+16G= (n.735+16G=) c.3297+16G= (n.3297+16G=) c.4062+16G= (n.4062+16G=) c.4044+16G= (n.4044+16G=) c.753+16G= (n.753+16G=) c.795+16G= (n.795+16G=) c.506+16G= c.759+16G= (n.759+16G=) c.*3968+16G= (n.*3968+16G=) c.479+16G= c.876+16G= (n.876+16G=) c.498+16G= (n.498+16G=) c.501+16G= (n.501+16G=) c.5-26977G= (n.5-26977G=) c.-43-16407G= (n.-43-16407G=) c.-99+34343G= (n.-99+34343G=) n.4321+16G= n.4362+16G= | |
17 | g.43090928C>G | CA16615352 | BRCA1 | c.4185+16G>C (n.4185+16G>C) c.4059+16G>C (n.4059+16G>C) c.4182+16G>C (n.4182+16G>C) c.4107+16G>C (n.4107+16G>C) c.873+16G>C (n.873+16G>C) c.735+16G>C (n.735+16G>C) c.3297+16G>C (n.3297+16G>C) c.4062+16G>C (n.4062+16G>C) c.4044+16G>C (n.4044+16G>C) c.753+16G>C (n.753+16G>C) c.795+16G>C (n.795+16G>C) c.506+16G>C c.759+16G>C (n.759+16G>C) c.*3968+16G>C (n.*3968+16G>C) c.479+16G>C c.876+16G>C (n.876+16G>C) c.498+16G>C (n.498+16G>C) c.501+16G>C (n.501+16G>C) c.5-26977G>C (n.5-26977G>C) c.-43-16407G>C (n.-43-16407G>C) c.-99+34343G>C (n.-99+34343G>C) n.4321+16G>C n.4362+16G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43090928C>T | CA658798853 | BRCA1 | c.4185+16G>A (n.4185+16G>A) c.4059+16G>A (n.4059+16G>A) c.4182+16G>A (n.4182+16G>A) c.4107+16G>A (n.4107+16G>A) c.873+16G>A (n.873+16G>A) c.735+16G>A (n.735+16G>A) c.3297+16G>A (n.3297+16G>A) c.4062+16G>A (n.4062+16G>A) c.4044+16G>A (n.4044+16G>A) c.753+16G>A (n.753+16G>A) c.795+16G>A (n.795+16G>A) c.506+16G>A c.759+16G>A (n.759+16G>A) c.*3968+16G>A (n.*3968+16G>A) c.479+16G>A c.876+16G>A (n.876+16G>A) c.498+16G>A (n.498+16G>A) c.501+16G>A (n.501+16G>A) c.5-26977G>A (n.5-26977G>A) c.-43-16407G>A (n.-43-16407G>A) c.-99+34343G>A (n.-99+34343G>A) n.4321+16G>A n.4362+16G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43090929A= | CA2260781615 | BRCA1 | c.4185+15T= (n.4185+15T=) c.4059+15T= (n.4059+15T=) c.4182+15T= (n.4182+15T=) c.4107+15T= (n.4107+15T=) c.873+15T= (n.873+15T=) c.735+15T= (n.735+15T=) c.3297+15T= (n.3297+15T=) c.4062+15T= (n.4062+15T=) c.4044+15T= (n.4044+15T=) c.753+15T= (n.753+15T=) c.795+15T= (n.795+15T=) c.506+15T= c.759+15T= (n.759+15T=) c.*3968+15T= (n.*3968+15T=) c.479+15T= c.876+15T= (n.876+15T=) c.498+15T= (n.498+15T=) c.501+15T= (n.501+15T=) c.5-26978T= (n.5-26978T=) c.-43-16408T= (n.-43-16408T=) c.-99+34342T= (n.-99+34342T=) n.4321+15T= n.4362+15T= | |
17 | g.43090929A>G | CA626075645 | BRCA1 | c.4185+15T>C (n.4185+15T>C) c.4059+15T>C (n.4059+15T>C) c.4182+15T>C (n.4182+15T>C) c.4107+15T>C (n.4107+15T>C) c.873+15T>C (n.873+15T>C) c.735+15T>C (n.735+15T>C) c.3297+15T>C (n.3297+15T>C) c.4062+15T>C (n.4062+15T>C) c.4044+15T>C (n.4044+15T>C) c.753+15T>C (n.753+15T>C) c.795+15T>C (n.795+15T>C) c.506+15T>C c.759+15T>C (n.759+15T>C) c.*3968+15T>C (n.*3968+15T>C) c.479+15T>C c.876+15T>C (n.876+15T>C) c.498+15T>C (n.498+15T>C) c.501+15T>C (n.501+15T>C) c.5-26978T>C (n.5-26978T>C) c.-43-16408T>C (n.-43-16408T>C) c.-99+34342T>C (n.-99+34342T>C) n.4321+15T>C n.4362+15T>C | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090930C= | CA2260781616 | BRCA1 | c.4185+14G= (n.4185+14G=) c.4059+14G= (n.4059+14G=) c.4182+14G= (n.4182+14G=) c.4107+14G= (n.4107+14G=) c.873+14G= (n.873+14G=) c.735+14G= (n.735+14G=) c.3297+14G= (n.3297+14G=) c.4062+14G= (n.4062+14G=) c.4044+14G= (n.4044+14G=) c.753+14G= (n.753+14G=) c.795+14G= (n.795+14G=) c.506+14G= c.759+14G= (n.759+14G=) c.*3968+14G= (n.*3968+14G=) c.479+14G= c.876+14G= (n.876+14G=) c.498+14G= (n.498+14G=) c.501+14G= (n.501+14G=) c.5-26979G= (n.5-26979G=) c.-43-16409G= (n.-43-16409G=) c.-99+34341G= (n.-99+34341G=) n.4321+14G= n.4362+14G= | |
17 | g.43090930C>G | CA002682 | BRCA1 | c.4185+14G>C (n.4185+14G>C) c.4059+14G>C (n.4059+14G>C) c.4182+14G>C (n.4182+14G>C) c.4107+14G>C (n.4107+14G>C) c.873+14G>C (n.873+14G>C) c.735+14G>C (n.735+14G>C) c.3297+14G>C (n.3297+14G>C) c.4062+14G>C (n.4062+14G>C) c.4044+14G>C (n.4044+14G>C) c.753+14G>C (n.753+14G>C) c.795+14G>C (n.795+14G>C) c.506+14G>C c.759+14G>C (n.759+14G>C) c.*3968+14G>C (n.*3968+14G>C) c.479+14G>C c.876+14G>C (n.876+14G>C) c.498+14G>C (n.498+14G>C) c.501+14G>C (n.501+14G>C) c.5-26979G>C (n.5-26979G>C) c.-43-16409G>C (n.-43-16409G>C) c.-99+34341G>C (n.-99+34341G>C) n.4321+14G>C n.4362+14G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090930C>T | CA626075647 | BRCA1 | c.4185+14G>A (n.4185+14G>A) c.4059+14G>A (n.4059+14G>A) c.4182+14G>A (n.4182+14G>A) c.4107+14G>A (n.4107+14G>A) c.873+14G>A (n.873+14G>A) c.735+14G>A (n.735+14G>A) c.3297+14G>A (n.3297+14G>A) c.4062+14G>A (n.4062+14G>A) c.4044+14G>A (n.4044+14G>A) c.753+14G>A (n.753+14G>A) c.795+14G>A (n.795+14G>A) c.506+14G>A c.759+14G>A (n.759+14G>A) c.*3968+14G>A (n.*3968+14G>A) c.479+14G>A c.876+14G>A (n.876+14G>A) c.498+14G>A (n.498+14G>A) c.501+14G>A (n.501+14G>A) c.5-26979G>A (n.5-26979G>A) c.-43-16409G>A (n.-43-16409G>A) c.-99+34341G>A (n.-99+34341G>A) n.4321+14G>A n.4362+14G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090931A>C | CA2733921997 | BRCA1 | c.4185+13T>G (n.4185+13T>G) c.4059+13T>G (n.4059+13T>G) c.4182+13T>G (n.4182+13T>G) c.4107+13T>G (n.4107+13T>G) c.873+13T>G (n.873+13T>G) c.735+13T>G (n.735+13T>G) c.3297+13T>G (n.3297+13T>G) c.4062+13T>G (n.4062+13T>G) c.4044+13T>G (n.4044+13T>G) c.753+13T>G (n.753+13T>G) c.795+13T>G (n.795+13T>G) c.506+13T>G c.759+13T>G (n.759+13T>G) c.*3968+13T>G (n.*3968+13T>G) c.479+13T>G c.876+13T>G (n.876+13T>G) c.498+13T>G (n.498+13T>G) c.501+13T>G (n.501+13T>G) c.5-26980T>G (n.5-26980T>G) c.-43-16410T>G (n.-43-16410T>G) c.-99+34340T>G (n.-99+34340T>G) n.4321+13T>G n.4362+13T>G | dbSNP |
17 | g.43090931A>G | CA2638063822 | BRCA1 | c.4185+13T>C (n.4185+13T>C) c.4059+13T>C (n.4059+13T>C) c.4182+13T>C (n.4182+13T>C) c.4107+13T>C (n.4107+13T>C) c.873+13T>C (n.873+13T>C) c.735+13T>C (n.735+13T>C) c.3297+13T>C (n.3297+13T>C) c.4062+13T>C (n.4062+13T>C) c.4044+13T>C (n.4044+13T>C) c.753+13T>C (n.753+13T>C) c.795+13T>C (n.795+13T>C) c.506+13T>C c.759+13T>C (n.759+13T>C) c.*3968+13T>C (n.*3968+13T>C) c.479+13T>C c.876+13T>C (n.876+13T>C) c.498+13T>C (n.498+13T>C) c.501+13T>C (n.501+13T>C) c.5-26980T>C (n.5-26980T>C) c.-43-16410T>C (n.-43-16410T>C) c.-99+34340T>C (n.-99+34340T>C) n.4321+13T>C n.4362+13T>C | gnomAD v4 |
17 | g.43090931A>T | CA2733922021 | BRCA1 | c.4185+13T>A (n.4185+13T>A) c.4059+13T>A (n.4059+13T>A) c.4182+13T>A (n.4182+13T>A) c.4107+13T>A (n.4107+13T>A) c.873+13T>A (n.873+13T>A) c.735+13T>A (n.735+13T>A) c.3297+13T>A (n.3297+13T>A) c.4062+13T>A (n.4062+13T>A) c.4044+13T>A (n.4044+13T>A) c.753+13T>A (n.753+13T>A) c.795+13T>A (n.795+13T>A) c.506+13T>A c.759+13T>A (n.759+13T>A) c.*3968+13T>A (n.*3968+13T>A) c.479+13T>A c.876+13T>A (n.876+13T>A) c.498+13T>A (n.498+13T>A) c.501+13T>A (n.501+13T>A) c.5-26980T>A (n.5-26980T>A) c.-43-16410T>A (n.-43-16410T>A) c.-99+34340T>A (n.-99+34340T>A) n.4321+13T>A n.4362+13T>A | dbSNP |
17 | g.43090932C>A | CA772185116 | BRCA1 | c.4185+12G>T (n.4185+12G>T) c.4059+12G>T (n.4059+12G>T) c.4182+12G>T (n.4182+12G>T) c.4107+12G>T (n.4107+12G>T) c.873+12G>T (n.873+12G>T) c.735+12G>T (n.735+12G>T) c.3297+12G>T (n.3297+12G>T) c.4062+12G>T (n.4062+12G>T) c.4044+12G>T (n.4044+12G>T) c.753+12G>T (n.753+12G>T) c.795+12G>T (n.795+12G>T) c.506+12G>T c.759+12G>T (n.759+12G>T) c.*3968+12G>T (n.*3968+12G>T) c.479+12G>T c.876+12G>T (n.876+12G>T) c.498+12G>T (n.498+12G>T) c.501+12G>T (n.501+12G>T) c.5-26981G>T (n.5-26981G>T) c.-43-16411G>T (n.-43-16411G>T) c.-99+34339G>T (n.-99+34339G>T) n.4321+12G>T n.4362+12G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43090932C= | CA2260781617 | BRCA1 | c.4185+12G= (n.4185+12G=) c.4059+12G= (n.4059+12G=) c.4182+12G= (n.4182+12G=) c.4107+12G= (n.4107+12G=) c.873+12G= (n.873+12G=) c.735+12G= (n.735+12G=) c.3297+12G= (n.3297+12G=) c.4062+12G= (n.4062+12G=) c.4044+12G= (n.4044+12G=) c.753+12G= (n.753+12G=) c.795+12G= (n.795+12G=) c.506+12G= c.759+12G= (n.759+12G=) c.*3968+12G= (n.*3968+12G=) c.479+12G= c.876+12G= (n.876+12G=) c.498+12G= (n.498+12G=) c.501+12G= (n.501+12G=) c.5-26981G= (n.5-26981G=) c.-43-16411G= (n.-43-16411G=) c.-99+34339G= (n.-99+34339G=) n.4321+12G= n.4362+12G= | |
17 | g.43090932C>G | CA2733674180 | BRCA1 | c.4185+12G>C (n.4185+12G>C) c.4059+12G>C (n.4059+12G>C) c.4182+12G>C (n.4182+12G>C) c.4107+12G>C (n.4107+12G>C) c.873+12G>C (n.873+12G>C) c.735+12G>C (n.735+12G>C) c.3297+12G>C (n.3297+12G>C) c.4062+12G>C (n.4062+12G>C) c.4044+12G>C (n.4044+12G>C) c.753+12G>C (n.753+12G>C) c.795+12G>C (n.795+12G>C) c.506+12G>C c.759+12G>C (n.759+12G>C) c.*3968+12G>C (n.*3968+12G>C) c.479+12G>C c.876+12G>C (n.876+12G>C) c.498+12G>C (n.498+12G>C) c.501+12G>C (n.501+12G>C) c.5-26981G>C (n.5-26981G>C) c.-43-16411G>C (n.-43-16411G>C) c.-99+34339G>C (n.-99+34339G>C) n.4321+12G>C n.4362+12G>C | dbSNP |
17 | g.43090932C>T | CA658798854 | BRCA1 | c.4185+12G>A (n.4185+12G>A) c.4059+12G>A (n.4059+12G>A) c.4182+12G>A (n.4182+12G>A) c.4107+12G>A (n.4107+12G>A) c.873+12G>A (n.873+12G>A) c.735+12G>A (n.735+12G>A) c.3297+12G>A (n.3297+12G>A) c.4062+12G>A (n.4062+12G>A) c.4044+12G>A (n.4044+12G>A) c.753+12G>A (n.753+12G>A) c.795+12G>A (n.795+12G>A) c.506+12G>A c.759+12G>A (n.759+12G>A) c.*3968+12G>A (n.*3968+12G>A) c.479+12G>A c.876+12G>A (n.876+12G>A) c.498+12G>A (n.498+12G>A) c.501+12G>A (n.501+12G>A) c.5-26981G>A (n.5-26981G>A) c.-43-16411G>A (n.-43-16411G>A) c.-99+34339G>A (n.-99+34339G>A) n.4321+12G>A n.4362+12G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43090933A>G | CA2499224434 | BRCA1 | c.4185+11T>C (n.4185+11T>C) c.4059+11T>C (n.4059+11T>C) c.4182+11T>C (n.4182+11T>C) c.4107+11T>C (n.4107+11T>C) c.873+11T>C (n.873+11T>C) c.735+11T>C (n.735+11T>C) c.3297+11T>C (n.3297+11T>C) c.4062+11T>C (n.4062+11T>C) c.4044+11T>C (n.4044+11T>C) c.753+11T>C (n.753+11T>C) c.795+11T>C (n.795+11T>C) c.506+11T>C c.759+11T>C (n.759+11T>C) c.*3968+11T>C (n.*3968+11T>C) c.479+11T>C c.876+11T>C (n.876+11T>C) c.498+11T>C (n.498+11T>C) c.501+11T>C (n.501+11T>C) c.5-26982T>C (n.5-26982T>C) c.-43-16412T>C (n.-43-16412T>C) c.-99+34338T>C (n.-99+34338T>C) n.4321+11T>C n.4362+11T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43090933A>T | CA2733922155 | BRCA1 | c.4185+11T>A (n.4185+11T>A) c.4059+11T>A (n.4059+11T>A) c.4182+11T>A (n.4182+11T>A) c.4107+11T>A (n.4107+11T>A) c.873+11T>A (n.873+11T>A) c.735+11T>A (n.735+11T>A) c.3297+11T>A (n.3297+11T>A) c.4062+11T>A (n.4062+11T>A) c.4044+11T>A (n.4044+11T>A) c.753+11T>A (n.753+11T>A) c.795+11T>A (n.795+11T>A) c.506+11T>A c.759+11T>A (n.759+11T>A) c.*3968+11T>A (n.*3968+11T>A) c.479+11T>A c.876+11T>A (n.876+11T>A) c.498+11T>A (n.498+11T>A) c.501+11T>A (n.501+11T>A) c.5-26982T>A (n.5-26982T>A) c.-43-16412T>A (n.-43-16412T>A) c.-99+34338T>A (n.-99+34338T>A) n.4321+11T>A n.4362+11T>A | dbSNP |
17 | g.43090934C>A | CA2697559873 | BRCA1 | c.4185+10G>T (n.4185+10G>T) c.4059+10G>T (n.4059+10G>T) c.4182+10G>T (n.4182+10G>T) c.4107+10G>T (n.4107+10G>T) c.873+10G>T (n.873+10G>T) c.735+10G>T (n.735+10G>T) c.3297+10G>T (n.3297+10G>T) c.4062+10G>T (n.4062+10G>T) c.4044+10G>T (n.4044+10G>T) c.753+10G>T (n.753+10G>T) c.795+10G>T (n.795+10G>T) c.506+10G>T c.759+10G>T (n.759+10G>T) c.*3968+10G>T (n.*3968+10G>T) c.479+10G>T c.876+10G>T (n.876+10G>T) c.498+10G>T (n.498+10G>T) c.501+10G>T (n.501+10G>T) c.5-26983G>T (n.5-26983G>T) c.-43-16413G>T (n.-43-16413G>T) c.-99+34337G>T (n.-99+34337G>T) n.4321+10G>T n.4362+10G>T | ClinVar |
17 | g.43090934C= | CA2260781618 | BRCA1 | c.4185+10G= (n.4185+10G=) c.4059+10G= (n.4059+10G=) c.4182+10G= (n.4182+10G=) c.4107+10G= (n.4107+10G=) c.873+10G= (n.873+10G=) c.735+10G= (n.735+10G=) c.3297+10G= (n.3297+10G=) c.4062+10G= (n.4062+10G=) c.4044+10G= (n.4044+10G=) c.753+10G= (n.753+10G=) c.795+10G= (n.795+10G=) c.506+10G= c.759+10G= (n.759+10G=) c.*3968+10G= (n.*3968+10G=) c.479+10G= c.876+10G= (n.876+10G=) c.498+10G= (n.498+10G=) c.501+10G= (n.501+10G=) c.5-26983G= (n.5-26983G=) c.-43-16413G= (n.-43-16413G=) c.-99+34337G= (n.-99+34337G=) n.4321+10G= n.4362+10G= | |
17 | g.43090934C>G | CA002680 | BRCA1 | c.4185+10G>C (n.4185+10G>C) c.4059+10G>C (n.4059+10G>C) c.4182+10G>C (n.4182+10G>C) c.4107+10G>C (n.4107+10G>C) c.873+10G>C (n.873+10G>C) c.735+10G>C (n.735+10G>C) c.3297+10G>C (n.3297+10G>C) c.4062+10G>C (n.4062+10G>C) c.4044+10G>C (n.4044+10G>C) c.753+10G>C (n.753+10G>C) c.795+10G>C (n.795+10G>C) c.506+10G>C c.759+10G>C (n.759+10G>C) c.*3968+10G>C (n.*3968+10G>C) c.479+10G>C c.876+10G>C (n.876+10G>C) c.498+10G>C (n.498+10G>C) c.501+10G>C (n.501+10G>C) c.5-26983G>C (n.5-26983G>C) c.-43-16413G>C (n.-43-16413G>C) c.-99+34337G>C (n.-99+34337G>C) n.4321+10G>C n.4362+10G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090934C>T | CA002679 | BRCA1 | c.4185+10G>A (n.4185+10G>A) c.4059+10G>A (n.4059+10G>A) c.4182+10G>A (n.4182+10G>A) c.4107+10G>A (n.4107+10G>A) c.873+10G>A (n.873+10G>A) c.735+10G>A (n.735+10G>A) c.3297+10G>A (n.3297+10G>A) c.4062+10G>A (n.4062+10G>A) c.4044+10G>A (n.4044+10G>A) c.753+10G>A (n.753+10G>A) c.795+10G>A (n.795+10G>A) c.506+10G>A c.759+10G>A (n.759+10G>A) c.*3968+10G>A (n.*3968+10G>A) c.479+10G>A c.876+10G>A (n.876+10G>A) c.498+10G>A (n.498+10G>A) c.501+10G>A (n.501+10G>A) c.5-26983G>A (n.5-26983G>A) c.-43-16413G>A (n.-43-16413G>A) c.-99+34337G>A (n.-99+34337G>A) n.4321+10G>A n.4362+10G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090934_43090935insAA | CA913187764 | BRCA1 | c.4185+9_4185+10insTT (n.4185+9_4185+10insTT) c.4059+9_4059+10insTT (n.4059+9_4059+10insTT) c.4182+9_4182+10insTT (n.4182+9_4182+10insTT) c.4107+9_4107+10insTT (n.4107+9_4107+10insTT) c.873+9_873+10insTT (n.873+9_873+10insTT) c.735+9_735+10insTT (n.735+9_735+10insTT) c.3297+9_3297+10insTT (n.3297+9_3297+10insTT) c.4062+9_4062+10insTT (n.4062+9_4062+10insTT) c.4044+9_4044+10insTT (n.4044+9_4044+10insTT) c.753+9_753+10insTT (n.753+9_753+10insTT) c.795+9_795+10insTT (n.795+9_795+10insTT) c.506+9_506+10insTT c.759+9_759+10insTT (n.759+9_759+10insTT) c.*3968+9_*3968+10insTT (n.*3968+9_*3968+10insTT) c.479+9_479+10insTT c.876+9_876+10insTT (n.876+9_876+10insTT) c.498+9_498+10insTT (n.498+9_498+10insTT) c.501+9_501+10insTT (n.501+9_501+10insTT) c.5-26984_5-26983insTT (n.5-26984_5-26983insTT) c.-43-16414_-43-16413insTT (n.-43-16414_-43-16413insTT) c.-99+34336_-99+34337insTT (n.-99+34336_-99+34337insTT) n.4321+9_4321+10insTT n.4362+9_4362+10insTT | ClinVar dbSNP |
17 | g.43090935G>A | CA002691 | BRCA1 | c.4185+9C>T (n.4185+9C>T) c.4059+9C>T (n.4059+9C>T) c.4182+9C>T (n.4182+9C>T) c.4107+9C>T (n.4107+9C>T) c.873+9C>T (n.873+9C>T) c.735+9C>T (n.735+9C>T) c.3297+9C>T (n.3297+9C>T) c.4062+9C>T (n.4062+9C>T) c.4044+9C>T (n.4044+9C>T) c.753+9C>T (n.753+9C>T) c.795+9C>T (n.795+9C>T) c.506+9C>T c.759+9C>T (n.759+9C>T) c.*3968+9C>T (n.*3968+9C>T) c.479+9C>T c.876+9C>T (n.876+9C>T) c.498+9C>T (n.498+9C>T) c.501+9C>T (n.501+9C>T) c.5-26984C>T (n.5-26984C>T) c.-43-16414C>T (n.-43-16414C>T) c.-99+34336C>T (n.-99+34336C>T) n.4321+9C>T n.4362+9C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090935G>C | CA626075656 | BRCA1 | c.4185+9C>G (n.4185+9C>G) c.4059+9C>G (n.4059+9C>G) c.4182+9C>G (n.4182+9C>G) c.4107+9C>G (n.4107+9C>G) c.873+9C>G (n.873+9C>G) c.735+9C>G (n.735+9C>G) c.3297+9C>G (n.3297+9C>G) c.4062+9C>G (n.4062+9C>G) c.4044+9C>G (n.4044+9C>G) c.753+9C>G (n.753+9C>G) c.795+9C>G (n.795+9C>G) c.506+9C>G c.759+9C>G (n.759+9C>G) c.*3968+9C>G (n.*3968+9C>G) c.479+9C>G c.876+9C>G (n.876+9C>G) c.498+9C>G (n.498+9C>G) c.501+9C>G (n.501+9C>G) c.5-26984C>G (n.5-26984C>G) c.-43-16414C>G (n.-43-16414C>G) c.-99+34336C>G (n.-99+34336C>G) n.4321+9C>G n.4362+9C>G | dbSNP gnomAD v2 |
17 | g.43090935G= | CA2260781619 | BRCA1 | c.4185+9C= (n.4185+9C=) c.4059+9C= (n.4059+9C=) c.4182+9C= (n.4182+9C=) c.4107+9C= (n.4107+9C=) c.873+9C= (n.873+9C=) c.735+9C= (n.735+9C=) c.3297+9C= (n.3297+9C=) c.4062+9C= (n.4062+9C=) c.4044+9C= (n.4044+9C=) c.753+9C= (n.753+9C=) c.795+9C= (n.795+9C=) c.506+9C= c.759+9C= (n.759+9C=) c.*3968+9C= (n.*3968+9C=) c.479+9C= c.876+9C= (n.876+9C=) c.498+9C= (n.498+9C=) c.501+9C= (n.501+9C=) c.5-26984C= (n.5-26984C=) c.-43-16414C= (n.-43-16414C=) c.-99+34336C= (n.-99+34336C=) n.4321+9C= n.4362+9C= | |
17 | g.43090935G>T | CA658825024 | BRCA1 | c.4185+9C>A (n.4185+9C>A) c.4059+9C>A (n.4059+9C>A) c.4182+9C>A (n.4182+9C>A) c.4107+9C>A (n.4107+9C>A) c.873+9C>A (n.873+9C>A) c.735+9C>A (n.735+9C>A) c.3297+9C>A (n.3297+9C>A) c.4062+9C>A (n.4062+9C>A) c.4044+9C>A (n.4044+9C>A) c.753+9C>A (n.753+9C>A) c.795+9C>A (n.795+9C>A) c.506+9C>A c.759+9C>A (n.759+9C>A) c.*3968+9C>A (n.*3968+9C>A) c.479+9C>A c.876+9C>A (n.876+9C>A) c.498+9C>A (n.498+9C>A) c.501+9C>A (n.501+9C>A) c.5-26984C>A (n.5-26984C>A) c.-43-16414C>A (n.-43-16414C>A) c.-99+34336C>A (n.-99+34336C>A) n.4321+9C>A n.4362+9C>A | ClinVar dbSNP gnomAD v4 |
17 | g.43090936del | CA2695225925 | BRCA1 | c.4185+8del (n.4185+8del) c.4059+8del (n.4059+8del) c.4182+8del (n.4182+8del) c.4107+8del (n.4107+8del) c.873+8del (n.873+8del) c.735+8del (n.735+8del) c.3297+8del (n.3297+8del) c.4062+8del (n.4062+8del) c.4044+8del (n.4044+8del) c.753+8del (n.753+8del) c.795+8del (n.795+8del) c.506+8del c.759+8del (n.759+8del) c.*3968+8del (n.*3968+8del) c.479+8del c.876+8del (n.876+8del) c.498+8del (n.498+8del) c.501+8del (n.501+8del) c.5-26985del (n.5-26985del) c.-43-16415del (n.-43-16415del) c.-99+34335del (n.-99+34335del) n.4321+8del n.4362+8del | |
17 | g.43090936C= | CA2260781621 | BRCA1 | c.4185+8G= (n.4185+8G=) c.4059+8G= (n.4059+8G=) c.4182+8G= (n.4182+8G=) c.4107+8G= (n.4107+8G=) c.873+8G= (n.873+8G=) c.735+8G= (n.735+8G=) c.3297+8G= (n.3297+8G=) c.4062+8G= (n.4062+8G=) c.4044+8G= (n.4044+8G=) c.753+8G= (n.753+8G=) c.795+8G= (n.795+8G=) c.506+8G= c.759+8G= (n.759+8G=) c.*3968+8G= (n.*3968+8G=) c.479+8G= c.876+8G= (n.876+8G=) c.498+8G= (n.498+8G=) c.501+8G= (n.501+8G=) c.5-26985G= (n.5-26985G=) c.-43-16415G= (n.-43-16415G=) c.-99+34335G= (n.-99+34335G=) n.4321+8G= n.4362+8G= | |
17 | g.43090936C>G | CA10586108 | BRCA1 | c.4185+8G>C (n.4185+8G>C) c.4059+8G>C (n.4059+8G>C) c.4182+8G>C (n.4182+8G>C) c.4107+8G>C (n.4107+8G>C) c.873+8G>C (n.873+8G>C) c.735+8G>C (n.735+8G>C) c.3297+8G>C (n.3297+8G>C) c.4062+8G>C (n.4062+8G>C) c.4044+8G>C (n.4044+8G>C) c.753+8G>C (n.753+8G>C) c.795+8G>C (n.795+8G>C) c.506+8G>C c.759+8G>C (n.759+8G>C) c.*3968+8G>C (n.*3968+8G>C) c.479+8G>C c.876+8G>C (n.876+8G>C) c.498+8G>C (n.498+8G>C) c.501+8G>C (n.501+8G>C) c.5-26985G>C (n.5-26985G>C) c.-43-16415G>C (n.-43-16415G>C) c.-99+34335G>C (n.-99+34335G>C) n.4321+8G>C n.4362+8G>C | ClinVar dbSNP |
17 | g.43090936C>T | CA16608440 | BRCA1 | c.4185+8G>A (n.4185+8G>A) c.4059+8G>A (n.4059+8G>A) c.4182+8G>A (n.4182+8G>A) c.4107+8G>A (n.4107+8G>A) c.873+8G>A (n.873+8G>A) c.735+8G>A (n.735+8G>A) c.3297+8G>A (n.3297+8G>A) c.4062+8G>A (n.4062+8G>A) c.4044+8G>A (n.4044+8G>A) c.753+8G>A (n.753+8G>A) c.795+8G>A (n.795+8G>A) c.506+8G>A c.759+8G>A (n.759+8G>A) c.*3968+8G>A (n.*3968+8G>A) c.479+8G>A c.876+8G>A (n.876+8G>A) c.498+8G>A (n.498+8G>A) c.501+8G>A (n.501+8G>A) c.5-26985G>A (n.5-26985G>A) c.-43-16415G>A (n.-43-16415G>A) c.-99+34335G>A (n.-99+34335G>A) n.4321+8G>A n.4362+8G>A | ClinVar dbSNP |
17 | g.43090936_43090939delinsCTTT | CA2260781620 | BRCA1 | c.4185+5_4185+8delinsAAAG (n.4185+5_4185+8delinsAAAG) c.4059+5_4059+8delinsAAAG (n.4059+5_4059+8delinsAAAG) c.4182+5_4182+8delinsAAAG (n.4182+5_4182+8delinsAAAG) c.4107+5_4107+8delinsAAAG (n.4107+5_4107+8delinsAAAG) c.873+5_873+8delinsAAAG (n.873+5_873+8delinsAAAG) c.735+5_735+8delinsAAAG (n.735+5_735+8delinsAAAG) c.3297+5_3297+8delinsAAAG (n.3297+5_3297+8delinsAAAG) c.4062+5_4062+8delinsAAAG (n.4062+5_4062+8delinsAAAG) c.4044+5_4044+8delinsAAAG (n.4044+5_4044+8delinsAAAG) c.753+5_753+8delinsAAAG (n.753+5_753+8delinsAAAG) c.795+5_795+8delinsAAAG (n.795+5_795+8delinsAAAG) c.506+5_506+8delinsAAAG c.759+5_759+8delinsAAAG (n.759+5_759+8delinsAAAG) c.*3968+5_*3968+8delinsAAAG (n.*3968+5_*3968+8delinsAAAG) c.479+5_479+8delinsAAAG c.876+5_876+8delinsAAAG (n.876+5_876+8delinsAAAG) c.498+5_498+8delinsAAAG (n.498+5_498+8delinsAAAG) c.501+5_501+8delinsAAAG (n.501+5_501+8delinsAAAG) c.5-26988_5-26985delinsAAAG (n.5-26988_5-26985delinsAAAG) c.-43-16418_-43-16415delinsAAAG (n.-43-16418_-43-16415delinsAAAG) c.-99+34332_-99+34335delinsAAAG (n.-99+34332_-99+34335delinsAAAG) n.4321+5_4321+8delinsAAAG n.4362+5_4362+8delinsAAAG | |
17 | g.43090937T>A | CA2733922176 | BRCA1 | c.4185+7A>T (n.4185+7A>T) c.4059+7A>T (n.4059+7A>T) c.4182+7A>T (n.4182+7A>T) c.4107+7A>T (n.4107+7A>T) c.873+7A>T (n.873+7A>T) c.735+7A>T (n.735+7A>T) c.3297+7A>T (n.3297+7A>T) c.4062+7A>T (n.4062+7A>T) c.4044+7A>T (n.4044+7A>T) c.753+7A>T (n.753+7A>T) c.795+7A>T (n.795+7A>T) c.506+7A>T c.759+7A>T (n.759+7A>T) c.*3968+7A>T (n.*3968+7A>T) c.479+7A>T c.876+7A>T (n.876+7A>T) c.498+7A>T (n.498+7A>T) c.501+7A>T (n.501+7A>T) c.5-26986A>T (n.5-26986A>T) c.-43-16416A>T (n.-43-16416A>T) c.-99+34334A>T (n.-99+34334A>T) n.4321+7A>T n.4362+7A>T | dbSNP |
17 | g.43090937T>C | CA2733922177 | BRCA1 | c.4185+7A>G (n.4185+7A>G) c.4059+7A>G (n.4059+7A>G) c.4182+7A>G (n.4182+7A>G) c.4107+7A>G (n.4107+7A>G) c.873+7A>G (n.873+7A>G) c.735+7A>G (n.735+7A>G) c.3297+7A>G (n.3297+7A>G) c.4062+7A>G (n.4062+7A>G) c.4044+7A>G (n.4044+7A>G) c.753+7A>G (n.753+7A>G) c.795+7A>G (n.795+7A>G) c.506+7A>G c.759+7A>G (n.759+7A>G) c.*3968+7A>G (n.*3968+7A>G) c.479+7A>G c.876+7A>G (n.876+7A>G) c.498+7A>G (n.498+7A>G) c.501+7A>G (n.501+7A>G) c.5-26986A>G (n.5-26986A>G) c.-43-16416A>G (n.-43-16416A>G) c.-99+34334A>G (n.-99+34334A>G) n.4321+7A>G n.4362+7A>G | dbSNP |
17 | g.43090941dup | CA2499224435 | BRCA1 | c.4185+7dup (n.4185+7dup) c.4059+7dup (n.4059+7dup) c.4182+7dup (n.4182+7dup) c.4107+7dup (n.4107+7dup) c.873+7dup (n.873+7dup) c.735+7dup (n.735+7dup) c.3297+7dup (n.3297+7dup) c.4062+7dup (n.4062+7dup) c.4044+7dup (n.4044+7dup) c.753+7dup (n.753+7dup) c.795+7dup (n.795+7dup) c.506+7dup c.759+7dup (n.759+7dup) c.*3968+7dup (n.*3968+7dup) c.479+7dup c.876+7dup (n.876+7dup) c.498+7dup (n.498+7dup) c.501+7dup (n.501+7dup) c.5-26986dup (n.5-26986dup) c.-43-16416dup (n.-43-16416dup) c.-99+34334dup (n.-99+34334dup) n.4321+7dup n.4362+7dup | ClinVar dbSNP |
17 | g.43090941del | CA2580094028 | BRCA1 | c.4185+7del (n.4185+7del) c.4059+7del (n.4059+7del) c.4182+7del (n.4182+7del) c.4107+7del (n.4107+7del) c.873+7del (n.873+7del) c.735+7del (n.735+7del) c.3297+7del (n.3297+7del) c.4062+7del (n.4062+7del) c.4044+7del (n.4044+7del) c.753+7del (n.753+7del) c.795+7del (n.795+7del) c.506+7del c.759+7del (n.759+7del) c.*3968+7del (n.*3968+7del) c.479+7del c.876+7del (n.876+7del) c.498+7del (n.498+7del) c.501+7del (n.501+7del) c.5-26986del (n.5-26986del) c.-43-16416del (n.-43-16416del) c.-99+34334del (n.-99+34334del) n.4321+7del n.4362+7del | ClinVar |
17 | g.43090939_43090941del | CA268193 | BRCA1 | c.4185+5_4185+7del (n.4185+5_4185+7del) c.4059+5_4059+7del (n.4059+5_4059+7del) c.4182+5_4182+7del (n.4182+5_4182+7del) c.4107+5_4107+7del (n.4107+5_4107+7del) c.873+5_873+7del (n.873+5_873+7del) c.735+5_735+7del (n.735+5_735+7del) c.3297+5_3297+7del (n.3297+5_3297+7del) c.4062+5_4062+7del (n.4062+5_4062+7del) c.4044+5_4044+7del (n.4044+5_4044+7del) c.753+5_753+7del (n.753+5_753+7del) c.795+5_795+7del (n.795+5_795+7del) c.506+5_506+7del c.759+5_759+7del (n.759+5_759+7del) c.*3968+5_*3968+7del (n.*3968+5_*3968+7del) c.479+5_479+7del c.876+5_876+7del (n.876+5_876+7del) c.498+5_498+7del (n.498+5_498+7del) c.501+5_501+7del (n.501+5_501+7del) c.5-26988_5-26986del (n.5-26988_5-26986del) c.-43-16418_-43-16416del (n.-43-16418_-43-16416del) c.-99+34332_-99+34334del (n.-99+34332_-99+34334del) n.4321+5_4321+7del n.4362+5_4362+7del | ClinVar dbSNP |
17 | g.43090938_43090942del | CA2499224436 | BRCA1 | c.4185+2_4185+6del (n.4185+2_4185+6del) c.4059+2_4059+6del (n.4059+2_4059+6del) c.4182+2_4182+6del (n.4182+2_4182+6del) c.4107+2_4107+6del (n.4107+2_4107+6del) c.873+2_873+6del (n.873+2_873+6del) c.735+2_735+6del (n.735+2_735+6del) c.3297+2_3297+6del (n.3297+2_3297+6del) c.4062+2_4062+6del (n.4062+2_4062+6del) c.4044+2_4044+6del (n.4044+2_4044+6del) c.753+2_753+6del (n.753+2_753+6del) c.795+2_795+6del (n.795+2_795+6del) c.506+2_506+6del c.759+2_759+6del (n.759+2_759+6del) c.*3968+2_*3968+6del (n.*3968+2_*3968+6del) c.479+2_479+6del c.876+2_876+6del (n.876+2_876+6del) c.498+2_498+6del (n.498+2_498+6del) c.501+2_501+6del (n.501+2_501+6del) c.5-26991_5-26987del (n.5-26991_5-26987del) c.-43-16421_-43-16417del (n.-43-16421_-43-16417del) c.-99+34329_-99+34333del (n.-99+34329_-99+34333del) n.4321+2_4321+6del n.4362+2_4362+6del | dbSNP |
17 | g.43090939T>A | CA2733647379 | BRCA1 | c.4185+5A>T (n.4185+5A>T) c.4059+5A>T (n.4059+5A>T) c.4182+5A>T (n.4182+5A>T) c.4107+5A>T (n.4107+5A>T) c.873+5A>T (n.873+5A>T) c.735+5A>T (n.735+5A>T) c.3297+5A>T (n.3297+5A>T) c.4062+5A>T (n.4062+5A>T) c.4044+5A>T (n.4044+5A>T) c.753+5A>T (n.753+5A>T) c.795+5A>T (n.795+5A>T) c.506+5A>T c.759+5A>T (n.759+5A>T) c.*3968+5A>T (n.*3968+5A>T) c.479+5A>T c.876+5A>T (n.876+5A>T) c.498+5A>T (n.498+5A>T) c.501+5A>T (n.501+5A>T) c.5-26988A>T (n.5-26988A>T) c.-43-16418A>T (n.-43-16418A>T) c.-99+34332A>T (n.-99+34332A>T) n.4321+5A>T n.4362+5A>T | dbSNP |
17 | g.43090939T>C | CA059589 | BRCA1 | c.4185+5A>G (n.4185+5A>G) c.4059+5A>G (n.4059+5A>G) c.4182+5A>G (n.4182+5A>G) c.4107+5A>G (n.4107+5A>G) c.873+5A>G (n.873+5A>G) c.735+5A>G (n.735+5A>G) c.3297+5A>G (n.3297+5A>G) c.4062+5A>G (n.4062+5A>G) c.4044+5A>G (n.4044+5A>G) c.753+5A>G (n.753+5A>G) c.795+5A>G (n.795+5A>G) c.506+5A>G c.759+5A>G (n.759+5A>G) c.*3968+5A>G (n.*3968+5A>G) c.479+5A>G c.876+5A>G (n.876+5A>G) c.498+5A>G (n.498+5A>G) c.501+5A>G (n.501+5A>G) c.5-26988A>G (n.5-26988A>G) c.-43-16418A>G (n.-43-16418A>G) c.-99+34332A>G (n.-99+34332A>G) n.4321+5A>G n.4362+5A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090939T= | CA2260781622 | BRCA1 | c.4185+5A= (n.4185+5A=) c.4059+5A= (n.4059+5A=) c.4182+5A= (n.4182+5A=) c.4107+5A= (n.4107+5A=) c.873+5A= (n.873+5A=) c.735+5A= (n.735+5A=) c.3297+5A= (n.3297+5A=) c.4062+5A= (n.4062+5A=) c.4044+5A= (n.4044+5A=) c.753+5A= (n.753+5A=) c.795+5A= (n.795+5A=) c.506+5A= c.759+5A= (n.759+5A=) c.*3968+5A= (n.*3968+5A=) c.479+5A= c.876+5A= (n.876+5A=) c.498+5A= (n.498+5A=) c.501+5A= (n.501+5A=) c.5-26988A= (n.5-26988A=) c.-43-16418A= (n.-43-16418A=) c.-99+34332A= (n.-99+34332A=) n.4321+5A= n.4362+5A= | |
17 | g.43090940T>C | CA2733922384 | BRCA1 | c.4185+4A>G (n.4185+4A>G) c.4059+4A>G (n.4059+4A>G) c.4182+4A>G (n.4182+4A>G) c.4107+4A>G (n.4107+4A>G) c.873+4A>G (n.873+4A>G) c.735+4A>G (n.735+4A>G) c.3297+4A>G (n.3297+4A>G) c.4062+4A>G (n.4062+4A>G) c.4044+4A>G (n.4044+4A>G) c.753+4A>G (n.753+4A>G) c.795+4A>G (n.795+4A>G) c.506+4A>G c.759+4A>G (n.759+4A>G) c.*3968+4A>G (n.*3968+4A>G) c.479+4A>G c.876+4A>G (n.876+4A>G) c.498+4A>G (n.498+4A>G) c.501+4A>G (n.501+4A>G) c.5-26989A>G (n.5-26989A>G) c.-43-16419A>G (n.-43-16419A>G) c.-99+34331A>G (n.-99+34331A>G) n.4321+4A>G n.4362+4A>G | dbSNP |
17 | g.43090940_43090944delinsTTACC | CA2260781623 | BRCA1 | c.4185_4185+4delinsGGTAA c.4059_4059+4delinsGGTAA c.4182_4182+4delinsGGTAA c.4107_4107+4delinsGGTAA c.873_873+4delinsGGTAA c.735_735+4delinsGGTAA c.3297_3297+4delinsGGTAA c.4062_4062+4delinsGGTAA c.4044_4044+4delinsGGTAA c.753_753+4delinsGGTAA c.795_795+4delinsGGTAA c.506_506+4delinsGGTAA c.759_759+4delinsGGTAA c.*3968_*3968+4delinsGGTAA c.479_479+4delinsGGTAA c.876_876+4delinsGGTAA c.498_498+4delinsGGTAA c.501_501+4delinsGGTAA c.5-26993_5-26989delinsGGTAA (n.5-26993_5-26989delinsGGTAA) c.-43-16423_-43-16419delinsGGTAA (n.-43-16423_-43-16419delinsGGTAA) c.-99+34327_-99+34331delinsGGTAA (n.-99+34327_-99+34331delinsGGTAA) n.4321_4321+4delinsGGTAA n.4362_4362+4delinsGGTAA | |
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.43090941T>A | CA2733643966 | BRCA1 | c.4185+3A>T (n.4185+3A>T) c.4059+3A>T (n.4059+3A>T) c.4182+3A>T (n.4182+3A>T) c.4107+3A>T (n.4107+3A>T) c.873+3A>T (n.873+3A>T) c.735+3A>T (n.735+3A>T) c.3297+3A>T (n.3297+3A>T) c.4062+3A>T (n.4062+3A>T) c.4044+3A>T (n.4044+3A>T) c.753+3A>T (n.753+3A>T) c.795+3A>T (n.795+3A>T) c.506+3A>T c.759+3A>T (n.759+3A>T) c.*3968+3A>T (n.*3968+3A>T) c.479+3A>T c.876+3A>T (n.876+3A>T) c.498+3A>T (n.498+3A>T) c.501+3A>T (n.501+3A>T) c.5-26990A>T (n.5-26990A>T) c.-43-16420A>T (n.-43-16420A>T) c.-99+34330A>T (n.-99+34330A>T) n.4321+3A>T n.4362+3A>T | dbSNP |
17 | g.43090941T>C | CA002690 | BRCA1 | c.4185+3A>G (n.4185+3A>G) c.4059+3A>G (n.4059+3A>G) c.4182+3A>G (n.4182+3A>G) c.4107+3A>G (n.4107+3A>G) c.873+3A>G (n.873+3A>G) c.735+3A>G (n.735+3A>G) c.3297+3A>G (n.3297+3A>G) c.4062+3A>G (n.4062+3A>G) c.4044+3A>G (n.4044+3A>G) c.753+3A>G (n.753+3A>G) c.795+3A>G (n.795+3A>G) c.506+3A>G c.759+3A>G (n.759+3A>G) c.*3968+3A>G (n.*3968+3A>G) c.479+3A>G c.876+3A>G (n.876+3A>G) c.498+3A>G (n.498+3A>G) c.501+3A>G (n.501+3A>G) c.5-26990A>G (n.5-26990A>G) c.-43-16420A>G (n.-43-16420A>G) c.-99+34330A>G (n.-99+34330A>G) n.4321+3A>G n.4362+3A>G | ClinVar dbSNP |
17 | g.43090941T= | CA2260781624 | BRCA1 | c.4185+3A= (n.4185+3A=) c.4059+3A= (n.4059+3A=) c.4182+3A= (n.4182+3A=) c.4107+3A= (n.4107+3A=) c.873+3A= (n.873+3A=) c.735+3A= (n.735+3A=) c.3297+3A= (n.3297+3A=) c.4062+3A= (n.4062+3A=) c.4044+3A= (n.4044+3A=) c.753+3A= (n.753+3A=) c.795+3A= (n.795+3A=) c.506+3A= c.759+3A= (n.759+3A=) c.*3968+3A= (n.*3968+3A=) c.479+3A= c.876+3A= (n.876+3A=) c.498+3A= (n.498+3A=) c.501+3A= (n.501+3A=) c.5-26990A= (n.5-26990A=) c.-43-16420A= (n.-43-16420A=) c.-99+34330A= (n.-99+34330A=) n.4321+3A= n.4362+3A= | |
17 | g.43090941_43090942delinsTA | CA2260781625 | BRCA1 | c.4185+2_4185+3delinsTA (n.4185+2_4185+3delinsTA) c.4059+2_4059+3delinsTA (n.4059+2_4059+3delinsTA) c.4182+2_4182+3delinsTA (n.4182+2_4182+3delinsTA) c.4107+2_4107+3delinsTA (n.4107+2_4107+3delinsTA) c.873+2_873+3delinsTA (n.873+2_873+3delinsTA) c.735+2_735+3delinsTA (n.735+2_735+3delinsTA) c.3297+2_3297+3delinsTA (n.3297+2_3297+3delinsTA) c.4062+2_4062+3delinsTA (n.4062+2_4062+3delinsTA) c.4044+2_4044+3delinsTA (n.4044+2_4044+3delinsTA) c.753+2_753+3delinsTA (n.753+2_753+3delinsTA) c.795+2_795+3delinsTA (n.795+2_795+3delinsTA) c.506+2_506+3delinsTA c.759+2_759+3delinsTA (n.759+2_759+3delinsTA) c.*3968+2_*3968+3delinsTA (n.*3968+2_*3968+3delinsTA) c.479+2_479+3delinsTA c.876+2_876+3delinsTA (n.876+2_876+3delinsTA) c.498+2_498+3delinsTA (n.498+2_498+3delinsTA) c.501+2_501+3delinsTA (n.501+2_501+3delinsTA) c.5-26991_5-26990delinsTA (n.5-26991_5-26990delinsTA) c.-43-16421_-43-16420delinsTA (n.-43-16421_-43-16420delinsTA) c.-99+34329_-99+34330delinsTA (n.-99+34329_-99+34330delinsTA) n.4321+2_4321+3delinsTA n.4362+2_4362+3delinsTA | |
17 | g.43090942_43090945del | CA327916 | BRCA1 | c.4185_4185+3del c.4059_4059+3del c.4182_4182+3del c.4107_4107+3del c.873_873+3del c.735_735+3del c.3297_3297+3del c.4062_4062+3del c.4044_4044+3del c.753_753+3del c.795_795+3del c.506_506+3del c.759_759+3del c.*3968_*3968+3del c.479_479+3del c.876_876+3del c.498_498+3del c.501_501+3del c.5-26993_5-26990del (n.5-26993_5-26990del) c.-43-16423_-43-16420del (n.-43-16423_-43-16420del) c.-99+34327_-99+34330del (n.-99+34327_-99+34330del) n.4321_4321+3del n.4362_4362+3del | ClinVar dbSNP |
17 | g.43090942del | CA1139665601 | BRCA1 | c.4185+2del (n.4185+2del) c.4059+2del (n.4059+2del) c.4182+2del (n.4182+2del) c.4107+2del (n.4107+2del) c.873+2del (n.873+2del) c.735+2del (n.735+2del) c.3297+2del (n.3297+2del) c.4062+2del (n.4062+2del) c.4044+2del (n.4044+2del) c.753+2del (n.753+2del) c.795+2del (n.795+2del) c.506+2del c.759+2del (n.759+2del) c.*3968+2del (n.*3968+2del) c.479+2del c.876+2del (n.876+2del) c.498+2del (n.498+2del) c.501+2del (n.501+2del) c.5-26991del (n.5-26991del) c.-43-16421del (n.-43-16421del) c.-99+34329del (n.-99+34329del) n.4321+2del n.4362+2del | ClinVar dbSNP |
17 | g.43090942A= | CA2260781626 | BRCA1 | c.4185+2T= (n.4185+2T=) c.4059+2T= (n.4059+2T=) c.4182+2T= (n.4182+2T=) c.4107+2T= (n.4107+2T=) c.873+2T= (n.873+2T=) c.735+2T= (n.735+2T=) c.3297+2T= (n.3297+2T=) c.4062+2T= (n.4062+2T=) c.4044+2T= (n.4044+2T=) c.753+2T= (n.753+2T=) c.795+2T= (n.795+2T=) c.506+2T= c.759+2T= (n.759+2T=) c.*3968+2T= (n.*3968+2T=) c.479+2T= c.876+2T= (n.876+2T=) c.498+2T= (n.498+2T=) c.501+2T= (n.501+2T=) c.5-26991T= (n.5-26991T=) c.-43-16421T= (n.-43-16421T=) c.-99+34329T= (n.-99+34329T=) n.4321+2T= n.4362+2T= | |
17 | g.43090942A>C | CA10593352 | BRCA1 | c.4185+2T>G (n.4185+2T>G) c.4059+2T>G (n.4059+2T>G) c.4182+2T>G (n.4182+2T>G) c.4107+2T>G (n.4107+2T>G) c.873+2T>G (n.873+2T>G) c.735+2T>G (n.735+2T>G) c.3297+2T>G (n.3297+2T>G) c.4062+2T>G (n.4062+2T>G) c.4044+2T>G (n.4044+2T>G) c.753+2T>G (n.753+2T>G) c.795+2T>G (n.795+2T>G) c.506+2T>G c.759+2T>G (n.759+2T>G) c.*3968+2T>G (n.*3968+2T>G) c.479+2T>G c.876+2T>G (n.876+2T>G) c.498+2T>G (n.498+2T>G) c.501+2T>G (n.501+2T>G) c.5-26991T>G (n.5-26991T>G) c.-43-16421T>G (n.-43-16421T>G) c.-99+34329T>G (n.-99+34329T>G) n.4321+2T>G n.4362+2T>G | ClinVar dbSNP |
17 | g.43090942A>G | CA10593353 | BRCA1 | c.4185+2T>C (n.4185+2T>C) c.4059+2T>C (n.4059+2T>C) c.4182+2T>C (n.4182+2T>C) c.4107+2T>C (n.4107+2T>C) c.873+2T>C (n.873+2T>C) c.735+2T>C (n.735+2T>C) c.3297+2T>C (n.3297+2T>C) c.4062+2T>C (n.4062+2T>C) c.4044+2T>C (n.4044+2T>C) c.753+2T>C (n.753+2T>C) c.795+2T>C (n.795+2T>C) c.506+2T>C c.759+2T>C (n.759+2T>C) c.*3968+2T>C (n.*3968+2T>C) c.479+2T>C c.876+2T>C (n.876+2T>C) c.498+2T>C (n.498+2T>C) c.501+2T>C (n.501+2T>C) c.5-26991T>C (n.5-26991T>C) c.-43-16421T>C (n.-43-16421T>C) c.-99+34329T>C (n.-99+34329T>C) n.4321+2T>C n.4362+2T>C | ClinVar dbSNP |
17 | g.43090942A>T | CA002688 | BRCA1 | c.4185+2T>A (n.4185+2T>A) c.4059+2T>A (n.4059+2T>A) c.4182+2T>A (n.4182+2T>A) c.4107+2T>A (n.4107+2T>A) c.873+2T>A (n.873+2T>A) c.735+2T>A (n.735+2T>A) c.3297+2T>A (n.3297+2T>A) c.4062+2T>A (n.4062+2T>A) c.4044+2T>A (n.4044+2T>A) c.753+2T>A (n.753+2T>A) c.795+2T>A (n.795+2T>A) c.506+2T>A c.759+2T>A (n.759+2T>A) c.*3968+2T>A (n.*3968+2T>A) c.479+2T>A c.876+2T>A (n.876+2T>A) c.498+2T>A (n.498+2T>A) c.501+2T>A (n.501+2T>A) c.5-26991T>A (n.5-26991T>A) c.-43-16421T>A (n.-43-16421T>A) c.-99+34329T>A (n.-99+34329T>A) n.4321+2T>A n.4362+2T>A | ClinVar dbSNP |
17 | g.43090942dup | CA913187774 | BRCA1 | c.4185+2dup (n.4185+2dup) c.4059+2dup (n.4059+2dup) c.4182+2dup (n.4182+2dup) c.4107+2dup (n.4107+2dup) c.873+2dup (n.873+2dup) c.735+2dup (n.735+2dup) c.3297+2dup (n.3297+2dup) c.4062+2dup (n.4062+2dup) c.4044+2dup (n.4044+2dup) c.753+2dup (n.753+2dup) c.795+2dup (n.795+2dup) c.506+2dup c.759+2dup (n.759+2dup) c.*3968+2dup (n.*3968+2dup) c.479+2dup c.876+2dup (n.876+2dup) c.498+2dup (n.498+2dup) c.501+2dup (n.501+2dup) c.5-26991dup (n.5-26991dup) c.-43-16421dup (n.-43-16421dup) c.-99+34329dup (n.-99+34329dup) n.4321+2dup n.4362+2dup | ClinVar dbSNP |
17 | g.43090942_43090943delinsAC | CA2260781627 | BRCA1 | c.4185+1_4185+2delinsGT (n.4185+1_4185+2delinsGT) c.4059+1_4059+2delinsGT (n.4059+1_4059+2delinsGT) c.4182+1_4182+2delinsGT (n.4182+1_4182+2delinsGT) c.4107+1_4107+2delinsGT (n.4107+1_4107+2delinsGT) c.873+1_873+2delinsGT (n.873+1_873+2delinsGT) c.735+1_735+2delinsGT (n.735+1_735+2delinsGT) c.3297+1_3297+2delinsGT (n.3297+1_3297+2delinsGT) c.4062+1_4062+2delinsGT (n.4062+1_4062+2delinsGT) c.4044+1_4044+2delinsGT (n.4044+1_4044+2delinsGT) c.753+1_753+2delinsGT (n.753+1_753+2delinsGT) c.795+1_795+2delinsGT (n.795+1_795+2delinsGT) c.506+1_506+2delinsGT c.759+1_759+2delinsGT (n.759+1_759+2delinsGT) c.*3968+1_*3968+2delinsGT (n.*3968+1_*3968+2delinsGT) c.479+1_479+2delinsGT c.876+1_876+2delinsGT (n.876+1_876+2delinsGT) c.498+1_498+2delinsGT (n.498+1_498+2delinsGT) c.501+1_501+2delinsGT (n.501+1_501+2delinsGT) c.5-26992_5-26991delinsGT (n.5-26992_5-26991delinsGT) c.-43-16422_-43-16421delinsGT (n.-43-16422_-43-16421delinsGT) c.-99+34328_-99+34329delinsGT (n.-99+34328_-99+34329delinsGT) n.4321+1_4321+2delinsGT n.4362+1_4362+2delinsGT | |
17 | g.43090943C>A | CA002684 | BRCA1 | c.4185+1G>T (n.4185+1G>T) c.4059+1G>T (n.4059+1G>T) c.4182+1G>T (n.4182+1G>T) c.4107+1G>T (n.4107+1G>T) c.873+1G>T (n.873+1G>T) c.735+1G>T (n.735+1G>T) c.3297+1G>T (n.3297+1G>T) c.4062+1G>T (n.4062+1G>T) c.4044+1G>T (n.4044+1G>T) c.753+1G>T (n.753+1G>T) c.795+1G>T (n.795+1G>T) c.506+1G>T c.759+1G>T (n.759+1G>T) c.*3968+1G>T (n.*3968+1G>T) c.479+1G>T c.876+1G>T (n.876+1G>T) c.498+1G>T (n.498+1G>T) c.501+1G>T (n.501+1G>T) c.5-26992G>T (n.5-26992G>T) c.-43-16422G>T (n.-43-16422G>T) c.-99+34328G>T (n.-99+34328G>T) n.4321+1G>T n.4362+1G>T | ClinVar dbSNP |
17 | g.43090943C= | CA2260781630 | BRCA1 | c.4185+1G= (n.4185+1G=) c.4059+1G= (n.4059+1G=) c.4182+1G= (n.4182+1G=) c.4107+1G= (n.4107+1G=) c.873+1G= (n.873+1G=) c.735+1G= (n.735+1G=) c.3297+1G= (n.3297+1G=) c.4062+1G= (n.4062+1G=) c.4044+1G= (n.4044+1G=) c.753+1G= (n.753+1G=) c.795+1G= (n.795+1G=) c.506+1G= c.759+1G= (n.759+1G=) c.*3968+1G= (n.*3968+1G=) c.479+1G= c.876+1G= (n.876+1G=) c.498+1G= (n.498+1G=) c.501+1G= (n.501+1G=) c.5-26992G= (n.5-26992G=) c.-43-16422G= (n.-43-16422G=) c.-99+34328G= (n.-99+34328G=) n.4321+1G= n.4362+1G= | |
17 | g.43090943C>G | CA10593354 | BRCA1 | c.4185+1G>C (n.4185+1G>C) c.4059+1G>C (n.4059+1G>C) c.4182+1G>C (n.4182+1G>C) c.4107+1G>C (n.4107+1G>C) c.873+1G>C (n.873+1G>C) c.735+1G>C (n.735+1G>C) c.3297+1G>C (n.3297+1G>C) c.4062+1G>C (n.4062+1G>C) c.4044+1G>C (n.4044+1G>C) c.753+1G>C (n.753+1G>C) c.795+1G>C (n.795+1G>C) c.506+1G>C c.759+1G>C (n.759+1G>C) c.*3968+1G>C (n.*3968+1G>C) c.479+1G>C c.876+1G>C (n.876+1G>C) c.498+1G>C (n.498+1G>C) c.501+1G>C (n.501+1G>C) c.5-26992G>C (n.5-26992G>C) c.-43-16422G>C (n.-43-16422G>C) c.-99+34328G>C (n.-99+34328G>C) n.4321+1G>C n.4362+1G>C | ClinVar dbSNP |
17 | g.43090943C>T | CA002683 | BRCA1 | c.4185+1G>A (n.4185+1G>A) c.4059+1G>A (n.4059+1G>A) c.4182+1G>A (n.4182+1G>A) c.4107+1G>A (n.4107+1G>A) c.873+1G>A (n.873+1G>A) c.735+1G>A (n.735+1G>A) c.3297+1G>A (n.3297+1G>A) c.4062+1G>A (n.4062+1G>A) c.4044+1G>A (n.4044+1G>A) c.753+1G>A (n.753+1G>A) c.795+1G>A (n.795+1G>A) c.506+1G>A c.759+1G>A (n.759+1G>A) c.*3968+1G>A (n.*3968+1G>A) c.479+1G>A c.876+1G>A (n.876+1G>A) c.498+1G>A (n.498+1G>A) c.501+1G>A (n.501+1G>A) c.5-26992G>A (n.5-26992G>A) c.-43-16422G>A (n.-43-16422G>A) c.-99+34328G>A (n.-99+34328G>A) n.4321+1G>A n.4362+1G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43090943_43090944del | CA2695200257 | BRCA1 | c.4185_4185+1del c.4059_4059+1del c.4182_4182+1del c.4107_4107+1del c.873_873+1del c.735_735+1del c.3297_3297+1del c.4062_4062+1del c.4044_4044+1del c.753_753+1del c.795_795+1del c.506_506+1del c.759_759+1del c.*3968_*3968+1del c.479_479+1del c.876_876+1del c.498_498+1del c.501_501+1del c.5-26993_5-26992del (n.5-26993_5-26992del) c.-43-16423_-43-16422del (n.-43-16423_-43-16422del) c.-99+34327_-99+34328del (n.-99+34327_-99+34328del) n.4321_4321+1del n.4362_4362+1del | ClinVar |
17 | g.43090944del | CA913190409 | BRCA1 | c.4185+1del c.4059+1del c.4182+1del c.4107+1del c.873+1del c.735+1del c.3297+1del c.4062+1del c.4044+1del c.753+1del c.795+1del c.506+1del c.759+1del c.*3968+1del c.479+1del c.876+1del c.498+1del c.501+1del c.5-26992del (n.5-26992del) c.-43-16422del (n.-43-16422del) c.-99+34328del (n.-99+34328del) n.4321+1del n.4362+1del | ClinVar dbSNP |
17 | g.43090943_43090945delinsCCT | CA2260781628 | BRCA1 | c.4184_4185+1delinsAGG c.4058_4059+1delinsAGG c.4181_4182+1delinsAGG c.4106_4107+1delinsAGG c.872_873+1delinsAGG c.734_735+1delinsAGG c.3296_3297+1delinsAGG c.4061_4062+1delinsAGG c.4043_4044+1delinsAGG c.752_753+1delinsAGG c.794_795+1delinsAGG c.505_506+1delinsAGG c.758_759+1delinsAGG c.*3967_*3968+1delinsAGG c.478_479+1delinsAGG c.875_876+1delinsAGG c.497_498+1delinsAGG c.500_501+1delinsAGG c.5-26994_5-26992delinsAGG (n.5-26994_5-26992delinsAGG) c.-43-16424_-43-16422delinsAGG (n.-43-16424_-43-16422delinsAGG) c.-99+34326_-99+34328delinsAGG (n.-99+34326_-99+34328delinsAGG) n.4320_4321+1delinsAGG n.4361_4362+1delinsAGG | |
17 | g.43090943_43090946delinsCCTG | CA2260781629 | BRCA1 | c.4183_4185+1delinsCAGG c.4057_4059+1delinsCAGG c.4180_4182+1delinsCAGG c.4105_4107+1delinsCAGG c.871_873+1delinsCAGG c.733_735+1delinsCAGG c.3295_3297+1delinsCAGG c.4060_4062+1delinsCAGG c.4042_4044+1delinsCAGG c.751_753+1delinsCAGG c.793_795+1delinsCAGG c.504_506+1delinsCAGG c.757_759+1delinsCAGG c.*3966_*3968+1delinsCAGG c.477_479+1delinsCAGG c.874_876+1delinsCAGG c.496_498+1delinsCAGG c.499_501+1delinsCAGG c.5-26995_5-26992delinsCAGG (n.5-26995_5-26992delinsCAGG) c.-43-16425_-43-16422delinsCAGG (n.-43-16425_-43-16422delinsCAGG) c.-99+34325_-99+34328delinsCAGG (n.-99+34325_-99+34328delinsCAGG) n.4319_4321+1delinsCAGG n.4360_4362+1delinsCAGG | |
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.43090944C>A | CA10593355 | BRCA1 | c.4185G>T (p.Gln1395His) c.4059G>T (p.Gln1353His) c.4182G>T (p.Gln1394His) c.4107G>T (p.Gln1369His) c.873G>T (p.Gln291His) c.735G>T (p.Gln245His) c.3297G>T (p.Gln1099His) c.4062G>T (p.Gln1354His) c.4044G>T (p.Gln1348His) c.753G>T (p.Gln251His) c.795G>T (p.Gln265His) c.506G>T c.759G>T (p.Gln253His) c.*3968G>T (n.*3968G>T) c.479G>T c.876G>T (p.Gln292His) c.498G>T (p.Gln166His) c.501G>T (p.Gln167His) c.5-26993G>T (n.5-26993G>T) c.-43-16423G>T (n.-43-16423G>T) c.-99+34327G>T (n.-99+34327G>T) n.4321G>T n.4362G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43090944C= | CA2260781631 | BRCA1 | c.4185G= (p.Gln1395=) c.4059G= (p.Gln1353=) c.4182G= (p.Gln1394=) c.4107G= (p.Gln1369=) c.873G= (p.Gln291=) c.735G= (p.Gln245=) c.3297G= (p.Gln1099=) c.4062G= (p.Gln1354=) c.4044G= (p.Gln1348=) c.753G= (p.Gln251=) c.795G= (p.Gln265=) c.506G= c.759G= (p.Gln253=) c.*3968G= (n.*3968G=) c.479G= c.876G= (p.Gln292=) c.498G= (p.Gln166=) c.501G= (p.Gln167=) c.5-26993G= (n.5-26993G=) c.-43-16423G= (n.-43-16423G=) c.-99+34327G= (n.-99+34327G=) n.4321G= n.4362G= | |
17 | g.43090944C>G | CA10580532 | BRCA1 | c.4185G>C (p.Gln1395His) c.4059G>C (p.Gln1353His) c.4182G>C (p.Gln1394His) c.4107G>C (p.Gln1369His) c.873G>C (p.Gln291His) c.735G>C (p.Gln245His) c.3297G>C (p.Gln1099His) c.4062G>C (p.Gln1354His) c.4044G>C (p.Gln1348His) c.753G>C (p.Gln251His) c.795G>C (p.Gln265His) c.506G>C c.759G>C (p.Gln253His) c.*3968G>C (n.*3968G>C) c.479G>C c.876G>C (p.Gln292His) c.498G>C (p.Gln166His) c.501G>C (p.Gln167His) c.5-26993G>C (n.5-26993G>C) c.-43-16423G>C (n.-43-16423G>C) c.-99+34327G>C (n.-99+34327G>C) n.4321G>C n.4362G>C | ClinVar dbSNP |
17 | g.43090944C>T | CA002692 | BRCA1 | c.4185G>A (p.Gln1395=) c.4059G>A (p.Gln1353=) c.4182G>A (p.Gln1394=) c.4107G>A (p.Gln1369=) c.873G>A (p.Gln291=) c.735G>A (p.Gln245=) c.3297G>A (p.Gln1099=) c.4062G>A (p.Gln1354=) c.4044G>A (p.Gln1348=) c.753G>A (p.Gln251=) c.795G>A (p.Gln265=) c.506G>A c.759G>A (p.Gln253=) c.*3968G>A (n.*3968G>A) c.479G>A c.876G>A (p.Gln292=) c.498G>A (p.Gln166=) c.501G>A (p.Gln167=) c.5-26993G>A (n.5-26993G>A) c.-43-16423G>A (n.-43-16423G>A) c.-99+34327G>A (n.-99+34327G>A) n.4321G>A n.4362G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43090944_43090945del | CA772185168 | BRCA1 | c.4184_4185del (p.Gln1395ProfsTer8) c.4058_4059del (p.Gln1353ProfsTer8) c.4181_4182del (p.Arg1395GlyfsTer6) c.4106_4107del (p.Gln1369ProfsTer8) c.872_873del (p.Gln291ProfsTer8) c.734_735del (p.Gln245ProfsTer8) c.3296_3297del (p.Gln1099ProfsTer8) c.4061_4062del (p.Gln1354ProfsTer8) c.4043_4044del (p.Gln1348ProfsTer8) c.752_753del (p.Arg252GlyfsTer6) c.794_795del (p.Gln265ProfsTer8) c.505_506del c.758_759del (p.Gln253ProfsTer8) c.*3967_*3968del (n.*3967_*3968del) c.478_479del c.875_876del (p.Gln292ProfsTer8) c.497_498del (p.Gln166ProfsTer8) c.500_501del (p.Gln167ProfsTer8) c.5-26994_5-26993del (n.5-26994_5-26993del) c.-43-16424_-43-16423del (n.-43-16424_-43-16423del) c.-99+34326_-99+34327del (n.-99+34326_-99+34327del) n.4320_4321del n.4361_4362del | dbSNP |
17 | g.43090944_43090946del | CA002675 | BRCA1 | c.4183_4185del (p.Gln1395del) c.4057_4059del (p.Gln1353del) c.4180_4182del (p.Gln1394del) c.4105_4107del (p.Gln1369del) c.871_873del (p.Gln291del) c.733_735del (p.Gln245del) c.3295_3297del (p.Gln1099del) c.4060_4062del (p.Gln1354del) c.4042_4044del (p.Gln1348del) c.751_753del (p.Gln251del) c.793_795del (p.Gln265del) c.504_506del c.757_759del (p.Gln253del) c.*3966_*3968del (n.*3966_*3968del) c.477_479del c.874_876del (p.Gln292del) c.496_498del (p.Gln166del) c.499_501del (p.Gln167del) c.5-26995_5-26993del (n.5-26995_5-26993del) c.-43-16425_-43-16423del (n.-43-16425_-43-16423del) c.-99+34325_-99+34327del (n.-99+34325_-99+34327del) n.4319_4321del n.4360_4362del | ClinVar dbSNP |
17 | g.43090944_43090946delinsCTG | CA916080150 | BRCA1 | c.4183_4185delinsCAG (p.Gln1395=) c.4057_4059delinsCAG (p.Gln1353=) c.4180_4182delinsCAG (p.Gln1394=) c.4105_4107delinsCAG (p.Gln1369=) c.871_873delinsCAG (p.Gln291=) c.733_735delinsCAG (p.Gln245=) c.3295_3297delinsCAG (p.Gln1099=) c.4060_4062delinsCAG (p.Gln1354=) c.4042_4044delinsCAG (p.Gln1348=) c.751_753delinsCAG (p.Gln251=) c.793_795delinsCAG (p.Gln265=) c.504_506delinsCAG c.757_759delinsCAG (p.Gln253=) c.*3966_*3968delinsCAG (n.*3966_*3968delinsCAG) c.477_479delinsCAG c.874_876delinsCAG (p.Gln292=) c.496_498delinsCAG (p.Gln166=) c.499_501delinsCAG (p.Gln167=) c.5-26995_5-26993delinsCAG (n.5-26995_5-26993delinsCAG) c.-43-16425_-43-16423delinsCAG (n.-43-16425_-43-16423delinsCAG) c.-99+34325_-99+34327delinsCAG (n.-99+34325_-99+34327delinsCAG) n.4319_4321delinsCAG n.4360_4362delinsCAG | |
17 | g.43090944_43090947del | CA2695225928 | BRCA1 | c.4182_4185del (p.Gln1395ArgfsTer9) c.4056_4059del (p.Gln1353ArgfsTer9) c.4179_4182del (p.Gln1394GlyfsTer8) c.4104_4107del (p.Gln1369ArgfsTer9) c.870_873del (p.Gln291ArgfsTer9) c.732_735del (p.Gln245ArgfsTer9) c.3294_3297del (p.Gln1099ArgfsTer9) c.4059_4062del (p.Gln1354ArgfsTer9) c.4041_4044del (p.Gln1348ArgfsTer9) c.750_753del (p.Gln251GlyfsTer8) c.792_795del (p.Gln265ArgfsTer9) c.503_506del c.756_759del (p.Gln253ArgfsTer9) c.*3965_*3968del (n.*3965_*3968del) c.476_479del c.873_876del (p.Gln292ArgfsTer9) c.495_498del (p.Gln166ArgfsTer9) c.498_501del (p.Gln167ArgfsTer9) c.5-26996_5-26993del (n.5-26996_5-26993del) c.-43-16426_-43-16423del (n.-43-16426_-43-16423del) c.-99+34324_-99+34327del (n.-99+34324_-99+34327del) n.4318_4321del n.4359_4362del | |
17 | g.43090945T>A | CA10593356 | BRCA1 | c.4184A>T (p.Gln1395Leu) c.4058A>T (p.Gln1353Leu) c.4181A>T (p.Gln1394Leu) c.4106A>T (p.Gln1369Leu) c.872A>T (p.Gln291Leu) c.734A>T (p.Gln245Leu) c.3296A>T (p.Gln1099Leu) c.4061A>T (p.Gln1354Leu) c.4043A>T (p.Gln1348Leu) c.752A>T (p.Gln251Leu) c.794A>T (p.Gln265Leu) c.505A>T c.758A>T (p.Gln253Leu) c.*3967A>T (n.*3967A>T) c.478A>T c.875A>T (p.Gln292Leu) c.497A>T (p.Gln166Leu) c.500A>T (p.Gln167Leu) c.5-26994A>T (n.5-26994A>T) c.-43-16424A>T (n.-43-16424A>T) c.-99+34326A>T (n.-99+34326A>T) n.4320A>T n.4361A>T | dbSNP |
17 | g.43090945T>C | CA002678 | BRCA1 | c.4184A>G (p.Gln1395Arg) c.4058A>G (p.Gln1353Arg) c.4181A>G (p.Gln1394Arg) c.4106A>G (p.Gln1369Arg) c.872A>G (p.Gln291Arg) c.734A>G (p.Gln245Arg) c.3296A>G (p.Gln1099Arg) c.4061A>G (p.Gln1354Arg) c.4043A>G (p.Gln1348Arg) c.752A>G (p.Gln251Arg) c.794A>G (p.Gln265Arg) c.505A>G c.758A>G (p.Gln253Arg) c.*3967A>G (n.*3967A>G) c.478A>G c.875A>G (p.Gln292Arg) c.497A>G (p.Gln166Arg) c.500A>G (p.Gln167Arg) c.5-26994A>G (n.5-26994A>G) c.-43-16424A>G (n.-43-16424A>G) c.-99+34326A>G (n.-99+34326A>G) n.4320A>G n.4361A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090945T>G | CA10593357 | BRCA1 | c.4184A>C (p.Gln1395Pro) c.4058A>C (p.Gln1353Pro) c.4181A>C (p.Gln1394Pro) c.4106A>C (p.Gln1369Pro) c.872A>C (p.Gln291Pro) c.734A>C (p.Gln245Pro) c.3296A>C (p.Gln1099Pro) c.4061A>C (p.Gln1354Pro) c.4043A>C (p.Gln1348Pro) c.752A>C (p.Gln251Pro) c.794A>C (p.Gln265Pro) c.505A>C c.758A>C (p.Gln253Pro) c.*3967A>C (n.*3967A>C) c.478A>C c.875A>C (p.Gln292Pro) c.497A>C (p.Gln166Pro) c.500A>C (p.Gln167Pro) c.5-26994A>C (n.5-26994A>C) c.-43-16424A>C (n.-43-16424A>C) c.-99+34326A>C (n.-99+34326A>C) n.4320A>C n.4361A>C | dbSNP |
17 | g.43090945T= | CA2260781632 | BRCA1 | c.4184A= (p.Gln1395=) c.4058A= (p.Gln1353=) c.4181A= (p.Gln1394=) c.4106A= (p.Gln1369=) c.872A= (p.Gln291=) c.734A= (p.Gln245=) c.3296A= (p.Gln1099=) c.4061A= (p.Gln1354=) c.4043A= (p.Gln1348=) c.752A= (p.Gln251=) c.794A= (p.Gln265=) c.505A= c.758A= (p.Gln253=) c.*3967A= (n.*3967A=) c.478A= c.875A= (p.Gln292=) c.497A= (p.Gln166=) c.500A= (p.Gln167=) c.5-26994A= (n.5-26994A=) c.-43-16424A= (n.-43-16424A=) c.-99+34326A= (n.-99+34326A=) n.4320A= n.4361A= | |
17 | g.43090945_43090947delinsTGA | CA2260781633 | BRCA1 | c.4182_4184delinsTCA (p.Thr1394=) c.4056_4058delinsTCA (p.Thr1352=) c.4179_4181delinsTCA (p.Thr1393=) c.4104_4106delinsTCA (p.Thr1368=) c.870_872delinsTCA (p.Thr290=) c.732_734delinsTCA (p.Thr244=) c.3294_3296delinsTCA (p.Thr1098=) c.4059_4061delinsTCA (p.Thr1353=) c.4041_4043delinsTCA (p.Thr1347=) c.750_752delinsTCA (p.Thr250=) c.792_794delinsTCA (p.Thr264=) c.503_505delinsTCA c.756_758delinsTCA (p.Thr252=) c.*3965_*3967delinsTCA (n.*3965_*3967delinsTCA) c.476_478delinsTCA c.873_875delinsTCA (p.Thr291=) c.495_497delinsTCA (p.Thr165=) c.498_500delinsTCA (p.Thr166=) c.5-26996_5-26994delinsTCA (n.5-26996_5-26994delinsTCA) c.-43-16426_-43-16424delinsTCA (n.-43-16426_-43-16424delinsTCA) c.-99+34324_-99+34326delinsTCA (n.-99+34324_-99+34326delinsTCA) n.4318_4320delinsTCA n.4359_4361delinsTCA | |
17 | g.43090946G>A | CA002677 | BRCA1 | c.4183C>T (p.Gln1395Ter) c.4057C>T (p.Gln1353Ter) c.4180C>T (p.Gln1394Ter) c.4105C>T (p.Gln1369Ter) c.871C>T (p.Gln291Ter) c.733C>T (p.Gln245Ter) c.3295C>T (p.Gln1099Ter) c.4060C>T (p.Gln1354Ter) c.4042C>T (p.Gln1348Ter) c.751C>T (p.Gln251Ter) c.793C>T (p.Gln265Ter) c.504C>T c.757C>T (p.Gln253Ter) c.*3966C>T (n.*3966C>T) c.477C>T c.874C>T (p.Gln292Ter) c.496C>T (p.Gln166Ter) c.499C>T (p.Gln167Ter) c.5-26995C>T (n.5-26995C>T) c.-43-16425C>T (n.-43-16425C>T) c.-99+34325C>T (n.-99+34325C>T) n.4319C>T n.4360C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090946G>C | CA10593358 | BRCA1 | c.4183C>G (p.Gln1395Glu) c.4057C>G (p.Gln1353Glu) c.4180C>G (p.Gln1394Glu) c.4105C>G (p.Gln1369Glu) c.871C>G (p.Gln291Glu) c.733C>G (p.Gln245Glu) c.3295C>G (p.Gln1099Glu) c.4060C>G (p.Gln1354Glu) c.4042C>G (p.Gln1348Glu) c.751C>G (p.Gln251Glu) c.793C>G (p.Gln265Glu) c.504C>G c.757C>G (p.Gln253Glu) c.*3966C>G (n.*3966C>G) c.477C>G c.874C>G (p.Gln292Glu) c.496C>G (p.Gln166Glu) c.499C>G (p.Gln167Glu) c.5-26995C>G (n.5-26995C>G) c.-43-16425C>G (n.-43-16425C>G) c.-99+34325C>G (n.-99+34325C>G) n.4319C>G n.4360C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43090946G= | CA2260781634 | BRCA1 | c.4183C= (p.Gln1395=) c.4057C= (p.Gln1353=) c.4180C= (p.Gln1394=) c.4105C= (p.Gln1369=) c.871C= (p.Gln291=) c.733C= (p.Gln245=) c.3295C= (p.Gln1099=) c.4060C= (p.Gln1354=) c.4042C= (p.Gln1348=) c.751C= (p.Gln251=) c.793C= (p.Gln265=) c.504C= c.757C= (p.Gln253=) c.*3966C= (n.*3966C=) c.477C= c.874C= (p.Gln292=) c.496C= (p.Gln166=) c.499C= (p.Gln167=) c.5-26995C= (n.5-26995C=) c.-43-16425C= (n.-43-16425C=) c.-99+34325C= (n.-99+34325C=) n.4319C= n.4360C= | |
17 | g.43090946G>T | CA10593359 | BRCA1 | c.4183C>A (p.Gln1395Lys) c.4057C>A (p.Gln1353Lys) c.4180C>A (p.Gln1394Lys) c.4105C>A (p.Gln1369Lys) c.871C>A (p.Gln291Lys) c.733C>A (p.Gln245Lys) c.3295C>A (p.Gln1099Lys) c.4060C>A (p.Gln1354Lys) c.4042C>A (p.Gln1348Lys) c.751C>A (p.Gln251Lys) c.793C>A (p.Gln265Lys) c.504C>A c.757C>A (p.Gln253Lys) c.*3966C>A (n.*3966C>A) c.477C>A c.874C>A (p.Gln292Lys) c.496C>A (p.Gln166Lys) c.499C>A (p.Gln167Lys) c.5-26995C>A (n.5-26995C>A) c.-43-16425C>A (n.-43-16425C>A) c.-99+34325C>A (n.-99+34325C>A) n.4319C>A n.4360C>A | dbSNP gnomAD v4 |
17 | g.43090947_43090948dup | CA002674 | BRCA1 | c.4182_4183dup (p.Gln1395LeufsTer11) c.4056_4057dup (p.Gln1353LeufsTer11) c.4179_4180dup (p.Gln1394LeufsTer10) c.4104_4105dup (p.Gln1369LeufsTer11) c.870_871dup (p.Gln291LeufsTer11) c.732_733dup (p.Gln245LeufsTer11) c.3294_3295dup (p.Gln1099LeufsTer11) c.4059_4060dup (p.Gln1354LeufsTer11) c.4041_4042dup (p.Gln1348LeufsTer11) c.750_751dup (p.Gln251LeufsTer10) c.792_793dup (p.Gln265LeufsTer11) c.503_504dup c.756_757dup (p.Gln253LeufsTer11) c.*3965_*3966dup (n.*3965_*3966dup) c.476_477dup c.873_874dup (p.Gln292LeufsTer11) c.495_496dup (p.Gln166LeufsTer11) c.498_499dup (p.Gln167LeufsTer11) c.5-26996_5-26995dup (n.5-26996_5-26995dup) c.-43-16426_-43-16425dup (n.-43-16426_-43-16425dup) c.-99+34324_-99+34325dup (n.-99+34324_-99+34325dup) n.4318_4319dup n.4359_4360dup | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.43090947_43090948del | CA916080158 | BRCA1 | c.4182_4183del (p.Gln1395AlafsTer8) c.4056_4057del (p.Gln1353AlafsTer8) c.4179_4180del (p.Gln1394GlufsTer7) c.4104_4105del (p.Gln1369AlafsTer8) c.870_871del (p.Gln291AlafsTer8) c.732_733del (p.Gln245AlafsTer8) c.3294_3295del (p.Gln1099AlafsTer8) c.4059_4060del (p.Gln1354AlafsTer8) c.4041_4042del (p.Gln1348AlafsTer8) c.750_751del (p.Gln251GlufsTer7) c.792_793del (p.Gln265AlafsTer8) c.503_504del c.756_757del (p.Gln253AlafsTer8) c.*3965_*3966del (n.*3965_*3966del) c.476_477del c.873_874del (p.Gln292AlafsTer8) c.495_496del (p.Gln166AlafsTer8) c.498_499del (p.Gln167AlafsTer8) c.5-26996_5-26995del (n.5-26996_5-26995del) c.-43-16426_-43-16425del (n.-43-16426_-43-16425del) c.-99+34324_-99+34325del (n.-99+34324_-99+34325del) n.4318_4319del n.4359_4360del | ClinVar dbSNP |
17 | g.43090946_43090947insGA | CA2695225929 | BRCA1 | c.4182_4183insTC (p.Gln1395SerfsTer11) c.4056_4057insTC (p.Gln1353SerfsTer11) c.4179_4180insTC (p.Gln1394SerfsTer10) c.4104_4105insTC (p.Gln1369SerfsTer11) c.870_871insTC (p.Gln291SerfsTer11) c.732_733insTC (p.Gln245SerfsTer11) c.3294_3295insTC (p.Gln1099SerfsTer11) c.4059_4060insTC (p.Gln1354SerfsTer11) c.4041_4042insTC (p.Gln1348SerfsTer11) c.750_751insTC (p.Gln251SerfsTer10) c.792_793insTC (p.Gln265SerfsTer11) c.503_504insTC c.756_757insTC (p.Gln253SerfsTer11) c.*3965_*3966insTC (n.*3965_*3966insTC) c.476_477insTC c.873_874insTC (p.Gln292SerfsTer11) c.495_496insTC (p.Gln166SerfsTer11) c.498_499insTC (p.Gln167SerfsTer11) c.5-26996_5-26995insTC (n.5-26996_5-26995insTC) c.-43-16426_-43-16425insTC (n.-43-16426_-43-16425insTC) c.-99+34324_-99+34325insTC (n.-99+34324_-99+34325insTC) n.4318_4319insTC n.4359_4360insTC | |
17 | g.43090947A= | CA2260781635 | BRCA1 | c.4182T= (p.Thr1394=) c.4056T= (p.Thr1352=) c.4179T= (p.Thr1393=) c.4104T= (p.Thr1368=) c.870T= (p.Thr290=) c.732T= (p.Thr244=) c.3294T= (p.Thr1098=) c.4059T= (p.Thr1353=) c.4041T= (p.Thr1347=) c.750T= (p.Thr250=) c.792T= (p.Thr264=) c.503T= c.756T= (p.Thr252=) c.*3965T= (n.*3965T=) c.476T= c.873T= (p.Thr291=) c.495T= (p.Thr165=) c.498T= (p.Thr166=) c.5-26996T= (n.5-26996T=) c.-43-16426T= (n.-43-16426T=) c.-99+34324T= (n.-99+34324T=) n.4318T= n.4359T= | |
17 | g.43090947A>C | CA500122836 | BRCA1 | c.4182T>G (p.Thr1394=) c.4056T>G (p.Thr1352=) c.4179T>G (p.Thr1393=) c.4104T>G (p.Thr1368=) c.870T>G (p.Thr290=) c.732T>G (p.Thr244=) c.3294T>G (p.Thr1098=) c.4059T>G (p.Thr1353=) c.4041T>G (p.Thr1347=) c.750T>G (p.Thr250=) c.792T>G (p.Thr264=) c.503T>G c.756T>G (p.Thr252=) c.*3965T>G (n.*3965T>G) c.476T>G c.873T>G (p.Thr291=) c.495T>G (p.Thr165=) c.498T>G (p.Thr166=) c.5-26996T>G (n.5-26996T>G) c.-43-16426T>G (n.-43-16426T>G) c.-99+34324T>G (n.-99+34324T>G) n.4318T>G n.4359T>G | |
17 | g.43090947A>G | CA349537 | BRCA1 | c.4182T>C (p.Thr1394=) c.4056T>C (p.Thr1352=) c.4179T>C (p.Thr1393=) c.4104T>C (p.Thr1368=) c.870T>C (p.Thr290=) c.732T>C (p.Thr244=) c.3294T>C (p.Thr1098=) c.4059T>C (p.Thr1353=) c.4041T>C (p.Thr1347=) c.750T>C (p.Thr250=) c.792T>C (p.Thr264=) c.503T>C c.756T>C (p.Thr252=) c.*3965T>C (n.*3965T>C) c.476T>C c.873T>C (p.Thr291=) c.495T>C (p.Thr165=) c.498T>C (p.Thr166=) c.5-26996T>C (n.5-26996T>C) c.-43-16426T>C (n.-43-16426T>C) c.-99+34324T>C (n.-99+34324T>C) n.4318T>C n.4359T>C | ClinVar dbSNP |
17 | g.43090947A>T | CA500122838 | BRCA1 | c.4182T>A (p.Thr1394=) c.4056T>A (p.Thr1352=) c.4179T>A (p.Thr1393=) c.4104T>A (p.Thr1368=) c.870T>A (p.Thr290=) c.732T>A (p.Thr244=) c.3294T>A (p.Thr1098=) c.4059T>A (p.Thr1353=) c.4041T>A (p.Thr1347=) c.750T>A (p.Thr250=) c.792T>A (p.Thr264=) c.503T>A c.756T>A (p.Thr252=) c.*3965T>A (n.*3965T>A) c.476T>A c.873T>A (p.Thr291=) c.495T>A (p.Thr165=) c.498T>A (p.Thr166=) c.5-26996T>A (n.5-26996T>A) c.-43-16426T>A (n.-43-16426T>A) c.-99+34324T>A (n.-99+34324T>A) n.4318T>A n.4359T>A | dbSNP |
17 | g.43090948G>A | CA002673 | BRCA1 | c.4181C>T (p.Thr1394Ile) c.4055C>T (p.Thr1352Ile) c.4178C>T (p.Thr1393Ile) c.4103C>T (p.Thr1368Ile) c.869C>T (p.Thr290Ile) c.731C>T (p.Thr244Ile) c.3293C>T (p.Thr1098Ile) c.4058C>T (p.Thr1353Ile) c.4040C>T (p.Thr1347Ile) c.749C>T (p.Thr250Ile) c.791C>T (p.Thr264Ile) c.502C>T c.755C>T (p.Thr252Ile) c.*3964C>T (n.*3964C>T) c.475C>T c.872C>T (p.Thr291Ile) c.494C>T (p.Thr165Ile) c.497C>T (p.Thr166Ile) c.5-26997C>T (n.5-26997C>T) c.-43-16427C>T (n.-43-16427C>T) c.-99+34323C>T (n.-99+34323C>T) n.4317C>T n.4358C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43090948G>C | CA10593360 | BRCA1 | c.4181C>G (p.Thr1394Ser) c.4055C>G (p.Thr1352Ser) c.4178C>G (p.Thr1393Ser) c.4103C>G (p.Thr1368Ser) c.869C>G (p.Thr290Ser) c.731C>G (p.Thr244Ser) c.3293C>G (p.Thr1098Ser) c.4058C>G (p.Thr1353Ser) c.4040C>G (p.Thr1347Ser) c.749C>G (p.Thr250Ser) c.791C>G (p.Thr264Ser) c.502C>G c.755C>G (p.Thr252Ser) c.*3964C>G (n.*3964C>G) c.475C>G c.872C>G (p.Thr291Ser) c.494C>G (p.Thr165Ser) c.497C>G (p.Thr166Ser) c.5-26997C>G (n.5-26997C>G) c.-43-16427C>G (n.-43-16427C>G) c.-99+34323C>G (n.-99+34323C>G) n.4317C>G n.4358C>G | dbSNP |
17 | g.43090948G= | CA2260781636 | BRCA1 | c.4181C= (p.Thr1394=) c.4055C= (p.Thr1352=) c.4178C= (p.Thr1393=) c.4103C= (p.Thr1368=) c.869C= (p.Thr290=) c.731C= (p.Thr244=) c.3293C= (p.Thr1098=) c.4058C= (p.Thr1353=) c.4040C= (p.Thr1347=) c.749C= (p.Thr250=) c.791C= (p.Thr264=) c.502C= c.755C= (p.Thr252=) c.*3964C= (n.*3964C=) c.475C= c.872C= (p.Thr291=) c.494C= (p.Thr165=) c.497C= (p.Thr166=) c.5-26997C= (n.5-26997C=) c.-43-16427C= (n.-43-16427C=) c.-99+34323C= (n.-99+34323C=) n.4317C= n.4358C= | |
17 | g.43090948G>T | CA10593361 | BRCA1 | c.4181C>A (p.Thr1394Asn) c.4055C>A (p.Thr1352Asn) c.4178C>A (p.Thr1393Asn) c.4103C>A (p.Thr1368Asn) c.869C>A (p.Thr290Asn) c.731C>A (p.Thr244Asn) c.3293C>A (p.Thr1098Asn) c.4058C>A (p.Thr1353Asn) c.4040C>A (p.Thr1347Asn) c.749C>A (p.Thr250Asn) c.791C>A (p.Thr264Asn) c.502C>A c.755C>A (p.Thr252Asn) c.*3964C>A (n.*3964C>A) c.475C>A c.872C>A (p.Thr291Asn) c.494C>A (p.Thr165Asn) c.497C>A (p.Thr166Asn) c.5-26997C>A (n.5-26997C>A) c.-43-16427C>A (n.-43-16427C>A) c.-99+34323C>A (n.-99+34323C>A) n.4317C>A n.4358C>A | |
17 | g.43090949del | CA2695225930 | BRCA1 | c.4180del (p.Thr1394LeufsTer11) c.4054del (p.Thr1352LeufsTer11) c.4177del (p.Thr1393LeufsTer10) c.4102del (p.Thr1368LeufsTer11) c.868del (p.Thr290LeufsTer11) c.730del (p.Thr244LeufsTer11) c.3292del (p.Thr1098LeufsTer11) c.4057del (p.Thr1353LeufsTer11) c.4039del (p.Thr1347LeufsTer11) c.748del (p.Thr250LeufsTer10) c.790del (p.Thr264LeufsTer11) c.501del c.754del (p.Thr252LeufsTer11) c.*3963del (n.*3963del) c.474del c.871del (p.Thr291LeufsTer11) c.493del (p.Thr165LeufsTer11) c.496del (p.Thr166LeufsTer11) c.5-26998del (n.5-26998del) c.-43-16428del (n.-43-16428del) c.-99+34322del (n.-99+34322del) n.4316del n.4357del | |
17 | g.43090949T>A | CA10593362 | BRCA1 | c.4180A>T (p.Thr1394Ser) c.4054A>T (p.Thr1352Ser) c.4177A>T (p.Thr1393Ser) c.4102A>T (p.Thr1368Ser) c.868A>T (p.Thr290Ser) c.730A>T (p.Thr244Ser) c.3292A>T (p.Thr1098Ser) c.4057A>T (p.Thr1353Ser) c.4039A>T (p.Thr1347Ser) c.748A>T (p.Thr250Ser) c.790A>T (p.Thr264Ser) c.501A>T c.754A>T (p.Thr252Ser) c.*3963A>T (n.*3963A>T) c.474A>T c.871A>T (p.Thr291Ser) c.493A>T (p.Thr165Ser) c.496A>T (p.Thr166Ser) c.5-26998A>T (n.5-26998A>T) c.-43-16428A>T (n.-43-16428A>T) c.-99+34322A>T (n.-99+34322A>T) n.4316A>T n.4357A>T | |
17 | g.43090949T>C | CA10593363 | BRCA1 | c.4180A>G (p.Thr1394Ala) c.4054A>G (p.Thr1352Ala) c.4177A>G (p.Thr1393Ala) c.4102A>G (p.Thr1368Ala) c.868A>G (p.Thr290Ala) c.730A>G (p.Thr244Ala) c.3292A>G (p.Thr1098Ala) c.4057A>G (p.Thr1353Ala) c.4039A>G (p.Thr1347Ala) c.748A>G (p.Thr250Ala) c.790A>G (p.Thr264Ala) c.501A>G c.754A>G (p.Thr252Ala) c.*3963A>G (n.*3963A>G) c.474A>G c.871A>G (p.Thr291Ala) c.493A>G (p.Thr165Ala) c.496A>G (p.Thr166Ala) c.5-26998A>G (n.5-26998A>G) c.-43-16428A>G (n.-43-16428A>G) c.-99+34322A>G (n.-99+34322A>G) n.4316A>G n.4357A>G | |
17 | g.43090949T>G | CA10593364 | BRCA1 | c.4180A>C (p.Thr1394Pro) c.4054A>C (p.Thr1352Pro) c.4177A>C (p.Thr1393Pro) c.4102A>C (p.Thr1368Pro) c.868A>C (p.Thr290Pro) c.730A>C (p.Thr244Pro) c.3292A>C (p.Thr1098Pro) c.4057A>C (p.Thr1353Pro) c.4039A>C (p.Thr1347Pro) c.748A>C (p.Thr250Pro) c.790A>C (p.Thr264Pro) c.501A>C c.754A>C (p.Thr252Pro) c.*3963A>C (n.*3963A>C) c.474A>C c.871A>C (p.Thr291Pro) c.493A>C (p.Thr165Pro) c.496A>C (p.Thr166Pro) c.5-26998A>C (n.5-26998A>C) c.-43-16428A>C (n.-43-16428A>C) c.-99+34322A>C (n.-99+34322A>C) n.4316A>C n.4357A>C | ClinVar dbSNP |
17 | g.43090949T= | CA2260781637 | BRCA1 | c.4180A= (p.Thr1394=) c.4054A= (p.Thr1352=) c.4177A= (p.Thr1393=) c.4102A= (p.Thr1368=) c.868A= (p.Thr290=) c.730A= (p.Thr244=) c.3292A= (p.Thr1098=) c.4057A= (p.Thr1353=) c.4039A= (p.Thr1347=) c.748A= (p.Thr250=) c.790A= (p.Thr264=) c.501A= c.754A= (p.Thr252=) c.*3963A= (n.*3963A=) c.474A= c.871A= (p.Thr291=) c.493A= (p.Thr165=) c.496A= (p.Thr166=) c.5-26998A= (n.5-26998A=) c.-43-16428A= (n.-43-16428A=) c.-99+34322A= (n.-99+34322A=) n.4316A= n.4357A= | |
17 | g.43090949dup | CA2638063823 | BRCA1 | c.4180dup (p.Thr1394AsnfsTer10) c.4054dup (p.Thr1352AsnfsTer10) c.4177dup (p.Thr1393AsnfsTer9) c.4102dup (p.Thr1368AsnfsTer10) c.868dup (p.Thr290AsnfsTer10) c.730dup (p.Thr244AsnfsTer10) c.3292dup (p.Thr1098AsnfsTer10) c.4057dup (p.Thr1353AsnfsTer10) c.4039dup (p.Thr1347AsnfsTer10) c.748dup (p.Thr250AsnfsTer9) c.790dup (p.Thr264AsnfsTer10) c.501dup c.754dup (p.Thr252AsnfsTer10) c.*3963dup (n.*3963dup) c.474dup c.871dup (p.Thr291AsnfsTer10) c.493dup (p.Thr165AsnfsTer10) c.496dup (p.Thr166AsnfsTer10) c.5-26998dup (n.5-26998dup) c.-43-16428dup (n.-43-16428dup) c.-99+34322dup (n.-99+34322dup) n.4316dup n.4357dup | gnomAD v4 |
17 | g.43090950G>A | CA10580533 | BRCA1 | c.4179C>T (p.Thr1393=) c.4053C>T (p.Thr1351=) c.4176C>T (p.Thr1392=) c.4101C>T (p.Thr1367=) c.867C>T (p.Thr289=) c.729C>T (p.Thr243=) c.3291C>T (p.Thr1097=) c.4056C>T (p.Thr1352=) c.4038C>T (p.Thr1346=) c.747C>T (p.Thr249=) c.789C>T (p.Thr263=) c.500C>T c.753C>T (p.Thr251=) c.*3962C>T (n.*3962C>T) c.473C>T c.870C>T (p.Thr290=) c.492C>T (p.Thr164=) c.495C>T (p.Thr165=) c.5-26999C>T (n.5-26999C>T) c.-43-16429C>T (n.-43-16429C>T) c.-99+34321C>T (n.-99+34321C>T) n.4315C>T n.4356C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090950G>C | CA059532 | BRCA1 | c.4179C>G (p.Thr1393=) c.4053C>G (p.Thr1351=) c.4176C>G (p.Thr1392=) c.4101C>G (p.Thr1367=) c.867C>G (p.Thr289=) c.729C>G (p.Thr243=) c.3291C>G (p.Thr1097=) c.4056C>G (p.Thr1352=) c.4038C>G (p.Thr1346=) c.747C>G (p.Thr249=) c.789C>G (p.Thr263=) c.500C>G c.753C>G (p.Thr251=) c.*3962C>G (n.*3962C>G) c.473C>G c.870C>G (p.Thr290=) c.492C>G (p.Thr164=) c.495C>G (p.Thr165=) c.5-26999C>G (n.5-26999C>G) c.-43-16429C>G (n.-43-16429C>G) c.-99+34321C>G (n.-99+34321C>G) n.4315C>G n.4356C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090950G= | CA2260781638 | BRCA1 | c.4179C= (p.Thr1393=) c.4053C= (p.Thr1351=) c.4176C= (p.Thr1392=) c.4101C= (p.Thr1367=) c.867C= (p.Thr289=) c.729C= (p.Thr243=) c.3291C= (p.Thr1097=) c.4056C= (p.Thr1352=) c.4038C= (p.Thr1346=) c.747C= (p.Thr249=) c.789C= (p.Thr263=) c.500C= c.753C= (p.Thr251=) c.*3962C= (n.*3962C=) c.473C= c.870C= (p.Thr290=) c.492C= (p.Thr164=) c.495C= (p.Thr165=) c.5-26999C= (n.5-26999C=) c.-43-16429C= (n.-43-16429C=) c.-99+34321C= (n.-99+34321C=) n.4315C= n.4356C= | |
17 | g.43090950G>T | CA500122849 | BRCA1 | c.4179C>A (p.Thr1393=) c.4053C>A (p.Thr1351=) c.4176C>A (p.Thr1392=) c.4101C>A (p.Thr1367=) c.867C>A (p.Thr289=) c.729C>A (p.Thr243=) c.3291C>A (p.Thr1097=) c.4056C>A (p.Thr1352=) c.4038C>A (p.Thr1346=) c.747C>A (p.Thr249=) c.789C>A (p.Thr263=) c.500C>A c.753C>A (p.Thr251=) c.*3962C>A (n.*3962C>A) c.473C>A c.870C>A (p.Thr290=) c.492C>A (p.Thr164=) c.495C>A (p.Thr165=) c.5-26999C>A (n.5-26999C>A) c.-43-16429C>A (n.-43-16429C>A) c.-99+34321C>A (n.-99+34321C>A) n.4315C>A n.4356C>A | dbSNP |
17 | g.43090951G>A | CA10593365 | BRCA1 | c.4178C>T (p.Thr1393Ile) c.4052C>T (p.Thr1351Ile) c.4175C>T (p.Thr1392Ile) c.4100C>T (p.Thr1367Ile) c.866C>T (p.Thr289Ile) c.728C>T (p.Thr243Ile) c.3290C>T (p.Thr1097Ile) c.4055C>T (p.Thr1352Ile) c.4037C>T (p.Thr1346Ile) c.746C>T (p.Thr249Ile) c.788C>T (p.Thr263Ile) c.499C>T c.752C>T (p.Thr251Ile) c.*3961C>T (n.*3961C>T) c.472C>T c.869C>T (p.Thr290Ile) c.491C>T (p.Thr164Ile) c.494C>T (p.Thr165Ile) c.5-27000C>T (n.5-27000C>T) c.-43-16430C>T (n.-43-16430C>T) c.-99+34320C>T (n.-99+34320C>T) n.4314C>T n.4355C>T | dbSNP |
17 | g.43090951G>C | CA10593366 | BRCA1 | c.4178C>G (p.Thr1393Ser) c.4052C>G (p.Thr1351Ser) c.4175C>G (p.Thr1392Ser) c.4100C>G (p.Thr1367Ser) c.866C>G (p.Thr289Ser) c.728C>G (p.Thr243Ser) c.3290C>G (p.Thr1097Ser) c.4055C>G (p.Thr1352Ser) c.4037C>G (p.Thr1346Ser) c.746C>G (p.Thr249Ser) c.788C>G (p.Thr263Ser) c.499C>G c.752C>G (p.Thr251Ser) c.*3961C>G (n.*3961C>G) c.472C>G c.869C>G (p.Thr290Ser) c.491C>G (p.Thr164Ser) c.494C>G (p.Thr165Ser) c.5-27000C>G (n.5-27000C>G) c.-43-16430C>G (n.-43-16430C>G) c.-99+34320C>G (n.-99+34320C>G) n.4314C>G n.4355C>G | ClinVar dbSNP |
17 | g.43090951G= | CA2260781639 | BRCA1 | c.4178C= (p.Thr1393=) c.4052C= (p.Thr1351=) c.4175C= (p.Thr1392=) c.4100C= (p.Thr1367=) c.866C= (p.Thr289=) c.728C= (p.Thr243=) c.3290C= (p.Thr1097=) c.4055C= (p.Thr1352=) c.4037C= (p.Thr1346=) c.746C= (p.Thr249=) c.788C= (p.Thr263=) c.499C= c.752C= (p.Thr251=) c.*3961C= (n.*3961C=) c.472C= c.869C= (p.Thr290=) c.491C= (p.Thr164=) c.494C= (p.Thr165=) c.5-27000C= (n.5-27000C=) c.-43-16430C= (n.-43-16430C=) c.-99+34320C= (n.-99+34320C=) n.4314C= n.4355C= | |
17 | g.43090951G>T | CA10593367 | BRCA1 | c.4178C>A (p.Thr1393Asn) c.4052C>A (p.Thr1351Asn) c.4175C>A (p.Thr1392Asn) c.4100C>A (p.Thr1367Asn) c.866C>A (p.Thr289Asn) c.728C>A (p.Thr243Asn) c.3290C>A (p.Thr1097Asn) c.4055C>A (p.Thr1352Asn) c.4037C>A (p.Thr1346Asn) c.746C>A (p.Thr249Asn) c.788C>A (p.Thr263Asn) c.499C>A c.752C>A (p.Thr251Asn) c.*3961C>A (n.*3961C>A) c.472C>A c.869C>A (p.Thr290Asn) c.491C>A (p.Thr164Asn) c.494C>A (p.Thr165Asn) c.5-27000C>A (n.5-27000C>A) c.-43-16430C>A (n.-43-16430C>A) c.-99+34320C>A (n.-99+34320C>A) n.4314C>A n.4355C>A | dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.43090952T>A | CA10593368 | BRCA1 | c.4177A>T (p.Thr1393Ser) c.4051A>T (p.Thr1351Ser) c.4174A>T (p.Thr1392Ser) c.4099A>T (p.Thr1367Ser) c.865A>T (p.Thr289Ser) c.727A>T (p.Thr243Ser) c.3289A>T (p.Thr1097Ser) c.4054A>T (p.Thr1352Ser) c.4036A>T (p.Thr1346Ser) c.745A>T (p.Thr249Ser) c.787A>T (p.Thr263Ser) c.498A>T c.751A>T (p.Thr251Ser) c.*3960A>T (n.*3960A>T) c.471A>T c.868A>T (p.Thr290Ser) c.490A>T (p.Thr164Ser) c.493A>T (p.Thr165Ser) c.5-27001A>T (n.5-27001A>T) c.-43-16431A>T (n.-43-16431A>T) c.-99+34319A>T (n.-99+34319A>T) n.4313A>T n.4354A>T | dbSNP |
17 | g.43090952T>C | CA002672 | BRCA1 | c.4177A>G (p.Thr1393Ala) c.4051A>G (p.Thr1351Ala) c.4174A>G (p.Thr1392Ala) c.4099A>G (p.Thr1367Ala) c.865A>G (p.Thr289Ala) c.727A>G (p.Thr243Ala) c.3289A>G (p.Thr1097Ala) c.4054A>G (p.Thr1352Ala) c.4036A>G (p.Thr1346Ala) c.745A>G (p.Thr249Ala) c.787A>G (p.Thr263Ala) c.498A>G c.751A>G (p.Thr251Ala) c.*3960A>G (n.*3960A>G) c.471A>G c.868A>G (p.Thr290Ala) c.490A>G (p.Thr164Ala) c.493A>G (p.Thr165Ala) c.5-27001A>G (n.5-27001A>G) c.-43-16431A>G (n.-43-16431A>G) c.-99+34319A>G (n.-99+34319A>G) n.4313A>G n.4354A>G | ClinVar dbSNP |
17 | g.43090952T>G | CA059525 | BRCA1 | c.4177A>C (p.Thr1393Pro) c.4051A>C (p.Thr1351Pro) c.4174A>C (p.Thr1392Pro) c.4099A>C (p.Thr1367Pro) c.865A>C (p.Thr289Pro) c.727A>C (p.Thr243Pro) c.3289A>C (p.Thr1097Pro) c.4054A>C (p.Thr1352Pro) c.4036A>C (p.Thr1346Pro) c.745A>C (p.Thr249Pro) c.787A>C (p.Thr263Pro) c.498A>C c.751A>C (p.Thr251Pro) c.*3960A>C (n.*3960A>C) c.471A>C c.868A>C (p.Thr290Pro) c.490A>C (p.Thr164Pro) c.493A>C (p.Thr165Pro) c.5-27001A>C (n.5-27001A>C) c.-43-16431A>C (n.-43-16431A>C) c.-99+34319A>C (n.-99+34319A>C) n.4313A>C n.4354A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090952T= | CA2260781640 | BRCA1 | c.4177A= (p.Thr1393=) c.4051A= (p.Thr1351=) c.4174A= (p.Thr1392=) c.4099A= (p.Thr1367=) c.865A= (p.Thr289=) c.727A= (p.Thr243=) c.3289A= (p.Thr1097=) c.4054A= (p.Thr1352=) c.4036A= (p.Thr1346=) c.745A= (p.Thr249=) c.787A= (p.Thr263=) c.498A= c.751A= (p.Thr251=) c.*3960A= (n.*3960A=) c.471A= c.868A= (p.Thr290=) c.490A= (p.Thr164=) c.493A= (p.Thr165=) c.5-27001A= (n.5-27001A=) c.-43-16431A= (n.-43-16431A=) c.-99+34319A= (n.-99+34319A=) n.4313A= n.4354A= | |
17 | g.43090953T>A | CA10593369 | BRCA1 | c.4176A>T (p.Leu1392Phe) c.4050A>T (p.Leu1350Phe) c.4173A>T (p.Leu1391Phe) c.4098A>T (p.Leu1366Phe) c.864A>T (p.Leu288Phe) c.726A>T (p.Leu242Phe) c.3288A>T (p.Leu1096Phe) c.4053A>T (p.Leu1351Phe) c.4035A>T (p.Leu1345Phe) c.744A>T (p.Leu248Phe) c.786A>T (p.Leu262Phe) c.497A>T c.750A>T (p.Leu250Phe) c.*3959A>T (n.*3959A>T) c.470A>T c.867A>T (p.Leu289Phe) c.489A>T (p.Leu163Phe) c.492A>T (p.Leu164Phe) c.5-27002A>T (n.5-27002A>T) c.-43-16432A>T (n.-43-16432A>T) c.-99+34318A>T (n.-99+34318A>T) n.4312A>T n.4353A>T | |
17 | g.43090953T>C | CA500122861 | BRCA1 | c.4176A>G (p.Leu1392=) c.4050A>G (p.Leu1350=) c.4173A>G (p.Leu1391=) c.4098A>G (p.Leu1366=) c.864A>G (p.Leu288=) c.726A>G (p.Leu242=) c.3288A>G (p.Leu1096=) c.4053A>G (p.Leu1351=) c.4035A>G (p.Leu1345=) c.744A>G (p.Leu248=) c.786A>G (p.Leu262=) c.497A>G c.750A>G (p.Leu250=) c.*3959A>G (n.*3959A>G) c.470A>G c.867A>G (p.Leu289=) c.489A>G (p.Leu163=) c.492A>G (p.Leu164=) c.5-27002A>G (n.5-27002A>G) c.-43-16432A>G (n.-43-16432A>G) c.-99+34318A>G (n.-99+34318A>G) n.4312A>G n.4353A>G | |
17 | g.43090953T>G | CA10593370 | BRCA1 | c.4176A>C (p.Leu1392Phe) c.4050A>C (p.Leu1350Phe) c.4173A>C (p.Leu1391Phe) c.4098A>C (p.Leu1366Phe) c.864A>C (p.Leu288Phe) c.726A>C (p.Leu242Phe) c.3288A>C (p.Leu1096Phe) c.4053A>C (p.Leu1351Phe) c.4035A>C (p.Leu1345Phe) c.744A>C (p.Leu248Phe) c.786A>C (p.Leu262Phe) c.497A>C c.750A>C (p.Leu250Phe) c.*3959A>C (n.*3959A>C) c.470A>C c.867A>C (p.Leu289Phe) c.489A>C (p.Leu163Phe) c.492A>C (p.Leu164Phe) c.5-27002A>C (n.5-27002A>C) c.-43-16432A>C (n.-43-16432A>C) c.-99+34318A>C (n.-99+34318A>C) n.4312A>C n.4353A>C | |
17 | g.43090953_43090954delinsTA | CA2260781641 | BRCA1 | c.4175_4176delinsTA (p.Leu1392=) c.4049_4050delinsTA (p.Leu1350=) c.4172_4173delinsTA (p.Leu1391=) c.4097_4098delinsTA (p.Leu1366=) c.863_864delinsTA (p.Leu288=) c.725_726delinsTA (p.Leu242=) c.3287_3288delinsTA (p.Leu1096=) c.4052_4053delinsTA (p.Leu1351=) c.4034_4035delinsTA (p.Leu1345=) c.743_744delinsTA (p.Leu248=) c.785_786delinsTA (p.Leu262=) c.496_497delinsTA c.749_750delinsTA (p.Leu250=) c.*3958_*3959delinsTA (n.*3958_*3959delinsTA) c.469_470delinsTA c.866_867delinsTA (p.Leu289=) c.488_489delinsTA (p.Leu163=) c.491_492delinsTA (p.Leu164=) c.5-27003_5-27002delinsTA (n.5-27003_5-27002delinsTA) c.-43-16433_-43-16432delinsTA (n.-43-16433_-43-16432delinsTA) c.-99+34317_-99+34318delinsTA (n.-99+34317_-99+34318delinsTA) n.4311_4312delinsTA n.4352_4353delinsTA | |
17 | g.43090954A= | CA2260781642 | BRCA1 | c.4175T= (p.Leu1392=) c.4049T= (p.Leu1350=) c.4172T= (p.Leu1391=) c.4097T= (p.Leu1366=) c.863T= (p.Leu288=) c.725T= (p.Leu242=) c.3287T= (p.Leu1096=) c.4052T= (p.Leu1351=) c.4034T= (p.Leu1345=) c.743T= (p.Leu248=) c.785T= (p.Leu262=) c.496T= c.749T= (p.Leu250=) c.*3958T= (n.*3958T=) c.469T= c.866T= (p.Leu289=) c.488T= (p.Leu163=) c.491T= (p.Leu164=) c.5-27003T= (n.5-27003T=) c.-43-16433T= (n.-43-16433T=) c.-99+34317T= (n.-99+34317T=) n.4311T= n.4352T= | |
17 | g.43090954A>C | CA10593371 | BRCA1 | c.4175T>G (p.Leu1392Ter) c.4049T>G (p.Leu1350Ter) c.4172T>G (p.Leu1391Ter) c.4097T>G (p.Leu1366Ter) c.863T>G (p.Leu288Ter) c.725T>G (p.Leu242Ter) c.3287T>G (p.Leu1096Ter) c.4052T>G (p.Leu1351Ter) c.4034T>G (p.Leu1345Ter) c.743T>G (p.Leu248Ter) c.785T>G (p.Leu262Ter) c.496T>G c.749T>G (p.Leu250Ter) c.*3958T>G (n.*3958T>G) c.469T>G c.866T>G (p.Leu289Ter) c.488T>G (p.Leu163Ter) c.491T>G (p.Leu164Ter) c.5-27003T>G (n.5-27003T>G) c.-43-16433T>G (n.-43-16433T>G) c.-99+34317T>G (n.-99+34317T>G) n.4311T>G n.4352T>G | |
17 | g.43090954A>G | CA059506 | BRCA1 | c.4175T>C (p.Leu1392Ser) c.4049T>C (p.Leu1350Ser) c.4172T>C (p.Leu1391Ser) c.4097T>C (p.Leu1366Ser) c.863T>C (p.Leu288Ser) c.725T>C (p.Leu242Ser) c.3287T>C (p.Leu1096Ser) c.4052T>C (p.Leu1351Ser) c.4034T>C (p.Leu1345Ser) c.743T>C (p.Leu248Ser) c.785T>C (p.Leu262Ser) c.496T>C c.749T>C (p.Leu250Ser) c.*3958T>C (n.*3958T>C) c.469T>C c.866T>C (p.Leu289Ser) c.488T>C (p.Leu163Ser) c.491T>C (p.Leu164Ser) c.5-27003T>C (n.5-27003T>C) c.-43-16433T>C (n.-43-16433T>C) c.-99+34317T>C (n.-99+34317T>C) n.4311T>C n.4352T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090954A>T | CA10593372 | BRCA1 | c.4175T>A (p.Leu1392Ter) c.4049T>A (p.Leu1350Ter) c.4172T>A (p.Leu1391Ter) c.4097T>A (p.Leu1366Ter) c.863T>A (p.Leu288Ter) c.725T>A (p.Leu242Ter) c.3287T>A (p.Leu1096Ter) c.4052T>A (p.Leu1351Ter) c.4034T>A (p.Leu1345Ter) c.743T>A (p.Leu248Ter) c.785T>A (p.Leu262Ter) c.496T>A c.749T>A (p.Leu250Ter) c.*3958T>A (n.*3958T>A) c.469T>A c.866T>A (p.Leu289Ter) c.488T>A (p.Leu163Ter) c.491T>A (p.Leu164Ter) c.5-27003T>A (n.5-27003T>A) c.-43-16433T>A (n.-43-16433T>A) c.-99+34317T>A (n.-99+34317T>A) n.4311T>A n.4352T>A | dbSNP |
17 | g.43090957del | CA10589683 | BRCA1 | c.4175del (p.Leu1392Ter) c.4049del (p.Leu1350Ter) c.4172del (p.Leu1391Ter) c.4097del (p.Leu1366Ter) c.863del (p.Leu288Ter) c.725del (p.Leu242Ter) c.3287del (p.Leu1096Ter) c.4052del (p.Leu1351Ter) c.4034del (p.Leu1345Ter) c.743del (p.Leu248Ter) c.785del (p.Leu262Ter) c.496del c.749del (p.Leu250Ter) c.*3958del (n.*3958del) c.469del c.866del (p.Leu289Ter) c.488del (p.Leu163Ter) c.491del (p.Leu164Ter) c.5-27003del (n.5-27003del) c.-43-16433del (n.-43-16433del) c.-99+34317del (n.-99+34317del) n.4311del n.4352del | ClinVar dbSNP |
17 | g.43090955A>C | CA10593373 | BRCA1 | c.4174T>G (p.Leu1392Val) c.4048T>G (p.Leu1350Val) c.4171T>G (p.Leu1391Val) c.4096T>G (p.Leu1366Val) c.862T>G (p.Leu288Val) c.724T>G (p.Leu242Val) c.3286T>G (p.Leu1096Val) c.4051T>G (p.Leu1351Val) c.4033T>G (p.Leu1345Val) c.742T>G (p.Leu248Val) c.784T>G (p.Leu262Val) c.495T>G c.748T>G (p.Leu250Val) c.*3957T>G (n.*3957T>G) c.468T>G c.865T>G (p.Leu289Val) c.487T>G (p.Leu163Val) c.490T>G (p.Leu164Val) c.5-27004T>G (n.5-27004T>G) c.-43-16434T>G (n.-43-16434T>G) c.-99+34316T>G (n.-99+34316T>G) n.4310T>G n.4351T>G | |
17 | g.43090955A>G | CA500122869 | BRCA1 | c.4174T>C (p.Leu1392=) c.4048T>C (p.Leu1350=) c.4171T>C (p.Leu1391=) c.4096T>C (p.Leu1366=) c.862T>C (p.Leu288=) c.724T>C (p.Leu242=) c.3286T>C (p.Leu1096=) c.4051T>C (p.Leu1351=) c.4033T>C (p.Leu1345=) c.742T>C (p.Leu248=) c.784T>C (p.Leu262=) c.495T>C c.748T>C (p.Leu250=) c.*3957T>C (n.*3957T>C) c.468T>C c.865T>C (p.Leu289=) c.487T>C (p.Leu163=) c.490T>C (p.Leu164=) c.5-27004T>C (n.5-27004T>C) c.-43-16434T>C (n.-43-16434T>C) c.-99+34316T>C (n.-99+34316T>C) n.4310T>C n.4351T>C | |
17 | g.43090955A>T | CA10593374 | BRCA1 | c.4174T>A (p.Leu1392Ile) c.4048T>A (p.Leu1350Ile) c.4171T>A (p.Leu1391Ile) c.4096T>A (p.Leu1366Ile) c.862T>A (p.Leu288Ile) c.724T>A (p.Leu242Ile) c.3286T>A (p.Leu1096Ile) c.4051T>A (p.Leu1351Ile) c.4033T>A (p.Leu1345Ile) c.742T>A (p.Leu248Ile) c.784T>A (p.Leu262Ile) c.495T>A c.748T>A (p.Leu250Ile) c.*3957T>A (n.*3957T>A) c.468T>A c.865T>A (p.Leu289Ile) c.487T>A (p.Leu163Ile) c.490T>A (p.Leu164Ile) c.5-27004T>A (n.5-27004T>A) c.-43-16434T>A (n.-43-16434T>A) c.-99+34316T>A (n.-99+34316T>A) n.4310T>A n.4351T>A | dbSNP |
17 | g.43090956A>C | CA10593375 | BRCA1 | c.4173T>G (p.Ile1391Met) c.4047T>G (p.Ile1349Met) c.4170T>G (p.Ile1390Met) c.4095T>G (p.Ile1365Met) c.861T>G (p.Ile287Met) c.723T>G (p.Ile241Met) c.3285T>G (p.Ile1095Met) c.4050T>G (p.Ile1350Met) c.4032T>G (p.Ile1344Met) c.741T>G (p.Ile247Met) c.783T>G (p.Ile261Met) c.494T>G c.747T>G (p.Ile249Met) c.*3956T>G (n.*3956T>G) c.467T>G c.864T>G (p.Ile288Met) c.486T>G (p.Ile162Met) c.489T>G (p.Ile163Met) c.5-27005T>G (n.5-27005T>G) c.-43-16435T>G (n.-43-16435T>G) c.-99+34315T>G (n.-99+34315T>G) n.4309T>G n.4350T>G | |
17 | g.43090956A>G | CA500122873 | BRCA1 | c.4173T>C (p.Ile1391=) c.4047T>C (p.Ile1349=) c.4170T>C (p.Ile1390=) c.4095T>C (p.Ile1365=) c.861T>C (p.Ile287=) c.723T>C (p.Ile241=) c.3285T>C (p.Ile1095=) c.4050T>C (p.Ile1350=) c.4032T>C (p.Ile1344=) c.741T>C (p.Ile247=) c.783T>C (p.Ile261=) c.494T>C c.747T>C (p.Ile249=) c.*3956T>C (n.*3956T>C) c.467T>C c.864T>C (p.Ile288=) c.486T>C (p.Ile162=) c.489T>C (p.Ile163=) c.5-27005T>C (n.5-27005T>C) c.-43-16435T>C (n.-43-16435T>C) c.-99+34315T>C (n.-99+34315T>C) n.4309T>C n.4350T>C | |
17 | g.43090956A>T | CA500122874 | BRCA1 | c.4173T>A (p.Ile1391=) c.4047T>A (p.Ile1349=) c.4170T>A (p.Ile1390=) c.4095T>A (p.Ile1365=) c.861T>A (p.Ile287=) c.723T>A (p.Ile241=) c.3285T>A (p.Ile1095=) c.4050T>A (p.Ile1350=) c.4032T>A (p.Ile1344=) c.741T>A (p.Ile247=) c.783T>A (p.Ile261=) c.494T>A c.747T>A (p.Ile249=) c.*3956T>A (n.*3956T>A) c.467T>A c.864T>A (p.Ile288=) c.486T>A (p.Ile162=) c.489T>A (p.Ile163=) c.5-27005T>A (n.5-27005T>A) c.-43-16435T>A (n.-43-16435T>A) c.-99+34315T>A (n.-99+34315T>A) n.4309T>A n.4350T>A | dbSNP |
17 | g.43090957A= | CA2260781643 | BRCA1 | c.4172T= (p.Ile1391=) c.4046T= (p.Ile1349=) c.4169T= (p.Ile1390=) c.4094T= (p.Ile1365=) c.860T= (p.Ile287=) c.722T= (p.Ile241=) c.3284T= (p.Ile1095=) c.4049T= (p.Ile1350=) c.4031T= (p.Ile1344=) c.740T= (p.Ile247=) c.782T= (p.Ile261=) c.493T= c.746T= (p.Ile249=) c.*3955T= (n.*3955T=) c.466T= c.863T= (p.Ile288=) c.485T= (p.Ile162=) c.488T= (p.Ile163=) c.5-27006T= (n.5-27006T=) c.-43-16436T= (n.-43-16436T=) c.-99+34314T= (n.-99+34314T=) n.4308T= n.4349T= | |
17 | g.43090957A>C | CA10593376 | BRCA1 | c.4172T>G (p.Ile1391Ser) c.4046T>G (p.Ile1349Ser) c.4169T>G (p.Ile1390Ser) c.4094T>G (p.Ile1365Ser) c.860T>G (p.Ile287Ser) c.722T>G (p.Ile241Ser) c.3284T>G (p.Ile1095Ser) c.4049T>G (p.Ile1350Ser) c.4031T>G (p.Ile1344Ser) c.740T>G (p.Ile247Ser) c.782T>G (p.Ile261Ser) c.493T>G c.746T>G (p.Ile249Ser) c.*3955T>G (n.*3955T>G) c.466T>G c.863T>G (p.Ile288Ser) c.485T>G (p.Ile162Ser) c.488T>G (p.Ile163Ser) c.5-27006T>G (n.5-27006T>G) c.-43-16436T>G (n.-43-16436T>G) c.-99+34314T>G (n.-99+34314T>G) n.4308T>G n.4349T>G | ClinVar dbSNP |
17 | g.43090957A>G | CA002671 | BRCA1 | c.4172T>C (p.Ile1391Thr) c.4046T>C (p.Ile1349Thr) c.4169T>C (p.Ile1390Thr) c.4094T>C (p.Ile1365Thr) c.860T>C (p.Ile287Thr) c.722T>C (p.Ile241Thr) c.3284T>C (p.Ile1095Thr) c.4049T>C (p.Ile1350Thr) c.4031T>C (p.Ile1344Thr) c.740T>C (p.Ile247Thr) c.782T>C (p.Ile261Thr) c.493T>C c.746T>C (p.Ile249Thr) c.*3955T>C (n.*3955T>C) c.466T>C c.863T>C (p.Ile288Thr) c.485T>C (p.Ile162Thr) c.488T>C (p.Ile163Thr) c.5-27006T>C (n.5-27006T>C) c.-43-16436T>C (n.-43-16436T>C) c.-99+34314T>C (n.-99+34314T>C) n.4308T>C n.4349T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090957A>T | CA10593377 | BRCA1 | c.4172T>A (p.Ile1391Asn) c.4046T>A (p.Ile1349Asn) c.4169T>A (p.Ile1390Asn) c.4094T>A (p.Ile1365Asn) c.860T>A (p.Ile287Asn) c.722T>A (p.Ile241Asn) c.3284T>A (p.Ile1095Asn) c.4049T>A (p.Ile1350Asn) c.4031T>A (p.Ile1344Asn) c.740T>A (p.Ile247Asn) c.782T>A (p.Ile261Asn) c.493T>A c.746T>A (p.Ile249Asn) c.*3955T>A (n.*3955T>A) c.466T>A c.863T>A (p.Ile288Asn) c.485T>A (p.Ile162Asn) c.488T>A (p.Ile163Asn) c.5-27006T>A (n.5-27006T>A) c.-43-16436T>A (n.-43-16436T>A) c.-99+34314T>A (n.-99+34314T>A) n.4308T>A n.4349T>A | dbSNP |
17 | g.43090958del | CA2573054441 | BRCA1 | c.4171del (p.Ile1391PhefsTer2) c.4045del (p.Ile1349PhefsTer2) c.4168del (p.Ile1390PhefsTer2) c.4093del (p.Ile1365PhefsTer2) c.859del (p.Ile287PhefsTer2) c.721del (p.Ile241PhefsTer2) c.3283del (p.Ile1095PhefsTer2) c.4048del (p.Ile1350PhefsTer2) c.4030del (p.Ile1344PhefsTer2) c.739del (p.Ile247PhefsTer2) c.781del (p.Ile261PhefsTer2) c.492del c.745del (p.Ile249PhefsTer2) c.*3954del (n.*3954del) c.465del c.862del (p.Ile288PhefsTer2) c.484del (p.Ile162PhefsTer2) c.487del (p.Ile163PhefsTer2) c.5-27007del (n.5-27007del) c.-43-16437del (n.-43-16437del) c.-99+34313del (n.-99+34313del) n.4307del n.4348del | ClinVar dbSNP |
17 | g.43090958T>A | CA10593378 | BRCA1 | c.4171A>T (p.Ile1391Phe) c.4045A>T (p.Ile1349Phe) c.4168A>T (p.Ile1390Phe) c.4093A>T (p.Ile1365Phe) c.859A>T (p.Ile287Phe) c.721A>T (p.Ile241Phe) c.3283A>T (p.Ile1095Phe) c.4048A>T (p.Ile1350Phe) c.4030A>T (p.Ile1344Phe) c.739A>T (p.Ile247Phe) c.781A>T (p.Ile261Phe) c.492A>T c.745A>T (p.Ile249Phe) c.*3954A>T (n.*3954A>T) c.465A>T c.862A>T (p.Ile288Phe) c.484A>T (p.Ile162Phe) c.487A>T (p.Ile163Phe) c.5-27007A>T (n.5-27007A>T) c.-43-16437A>T (n.-43-16437A>T) c.-99+34313A>T (n.-99+34313A>T) n.4307A>T n.4348A>T | dbSNP |
17 | g.43090958T>C | CA10593379 | BRCA1 | c.4171A>G (p.Ile1391Val) c.4045A>G (p.Ile1349Val) c.4168A>G (p.Ile1390Val) c.4093A>G (p.Ile1365Val) c.859A>G (p.Ile287Val) c.721A>G (p.Ile241Val) c.3283A>G (p.Ile1095Val) c.4048A>G (p.Ile1350Val) c.4030A>G (p.Ile1344Val) c.739A>G (p.Ile247Val) c.781A>G (p.Ile261Val) c.492A>G c.745A>G (p.Ile249Val) c.*3954A>G (n.*3954A>G) c.465A>G c.862A>G (p.Ile288Val) c.484A>G (p.Ile162Val) c.487A>G (p.Ile163Val) c.5-27007A>G (n.5-27007A>G) c.-43-16437A>G (n.-43-16437A>G) c.-99+34313A>G (n.-99+34313A>G) n.4307A>G n.4348A>G | ClinVar dbSNP |
17 | g.43090958T>G | CA10593380 | BRCA1 | c.4171A>C (p.Ile1391Leu) c.4045A>C (p.Ile1349Leu) c.4168A>C (p.Ile1390Leu) c.4093A>C (p.Ile1365Leu) c.859A>C (p.Ile287Leu) c.721A>C (p.Ile241Leu) c.3283A>C (p.Ile1095Leu) c.4048A>C (p.Ile1350Leu) c.4030A>C (p.Ile1344Leu) c.739A>C (p.Ile247Leu) c.781A>C (p.Ile261Leu) c.492A>C c.745A>C (p.Ile249Leu) c.*3954A>C (n.*3954A>C) c.465A>C c.862A>C (p.Ile288Leu) c.484A>C (p.Ile162Leu) c.487A>C (p.Ile163Leu) c.5-27007A>C (n.5-27007A>C) c.-43-16437A>C (n.-43-16437A>C) c.-99+34313A>C (n.-99+34313A>C) n.4307A>C n.4348A>C | |
17 | g.43090958T= | CA2260781645 | BRCA1 | c.4171A= (p.Ile1391=) c.4045A= (p.Ile1349=) c.4168A= (p.Ile1390=) c.4093A= (p.Ile1365=) c.859A= (p.Ile287=) c.721A= (p.Ile241=) c.3283A= (p.Ile1095=) c.4048A= (p.Ile1350=) c.4030A= (p.Ile1344=) c.739A= (p.Ile247=) c.781A= (p.Ile261=) c.492A= c.745A= (p.Ile249=) c.*3954A= (n.*3954A=) c.465A= c.862A= (p.Ile288=) c.484A= (p.Ile162=) c.487A= (p.Ile163=) c.5-27007A= (n.5-27007A=) c.-43-16437A= (n.-43-16437A=) c.-99+34313A= (n.-99+34313A=) n.4307A= n.4348A= | |
17 | g.43090958_43090962delinsTGTCA | CA2260781644 | BRCA1 | c.4167_4171delinsTGACA (p.Ser1389=) c.4041_4045delinsTGACA (p.Ser1347=) c.4164_4168delinsTGACA (p.Ser1388=) c.4089_4093delinsTGACA (p.Ser1363=) c.855_859delinsTGACA (p.Ser285=) c.717_721delinsTGACA (p.Ser239=) c.3279_3283delinsTGACA (p.Ser1093=) c.4044_4048delinsTGACA (p.Ser1348=) c.4026_4030delinsTGACA (p.Ser1342=) c.735_739delinsTGACA (p.Ser245=) c.777_781delinsTGACA (p.Ser259=) c.488_492delinsTGACA c.741_745delinsTGACA (p.Ser247=) c.*3950_*3954delinsTGACA (n.*3950_*3954delinsTGACA) c.461_465delinsTGACA c.858_862delinsTGACA (p.Ser286=) c.480_484delinsTGACA (p.Ser160=) c.483_487delinsTGACA (p.Ser161=) c.5-27011_5-27007delinsTGACA (n.5-27011_5-27007delinsTGACA) c.-43-16441_-43-16437delinsTGACA (n.-43-16441_-43-16437delinsTGACA) c.-99+34309_-99+34313delinsTGACA (n.-99+34309_-99+34313delinsTGACA) n.4303_4307delinsTGACA n.4344_4348delinsTGACA | |
17 | g.43090959G>A | CA500122884 | BRCA1 | c.4170C>T (p.Asp1390=) c.4044C>T (p.Asp1348=) c.4167C>T (p.Asp1389=) c.4092C>T (p.Asp1364=) c.858C>T (p.Asp286=) c.720C>T (p.Asp240=) c.3282C>T (p.Asp1094=) c.4047C>T (p.Asp1349=) c.4029C>T (p.Asp1343=) c.738C>T (p.Asp246=) c.780C>T (p.Asp260=) c.491C>T c.744C>T (p.Asp248=) c.*3953C>T (n.*3953C>T) c.464C>T c.861C>T (p.Asp287=) c.483C>T (p.Asp161=) c.486C>T (p.Asp162=) c.5-27008C>T (n.5-27008C>T) c.-43-16438C>T (n.-43-16438C>T) c.-99+34312C>T (n.-99+34312C>T) n.4306C>T n.4347C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090959G>C | CA10593381 | BRCA1 | c.4170C>G (p.Asp1390Glu) c.4044C>G (p.Asp1348Glu) c.4167C>G (p.Asp1389Glu) c.4092C>G (p.Asp1364Glu) c.858C>G (p.Asp286Glu) c.720C>G (p.Asp240Glu) c.3282C>G (p.Asp1094Glu) c.4047C>G (p.Asp1349Glu) c.4029C>G (p.Asp1343Glu) c.738C>G (p.Asp246Glu) c.780C>G (p.Asp260Glu) c.491C>G c.744C>G (p.Asp248Glu) c.*3953C>G (n.*3953C>G) c.464C>G c.861C>G (p.Asp287Glu) c.483C>G (p.Asp161Glu) c.486C>G (p.Asp162Glu) c.5-27008C>G (n.5-27008C>G) c.-43-16438C>G (n.-43-16438C>G) c.-99+34312C>G (n.-99+34312C>G) n.4306C>G n.4347C>G | dbSNP gnomAD v4 |
17 | g.43090959G= | CA2260781646 | BRCA1 | c.4170C= (p.Asp1390=) c.4044C= (p.Asp1348=) c.4167C= (p.Asp1389=) c.4092C= (p.Asp1364=) c.858C= (p.Asp286=) c.720C= (p.Asp240=) c.3282C= (p.Asp1094=) c.4047C= (p.Asp1349=) c.4029C= (p.Asp1343=) c.738C= (p.Asp246=) c.780C= (p.Asp260=) c.491C= c.744C= (p.Asp248=) c.*3953C= (n.*3953C=) c.464C= c.861C= (p.Asp287=) c.483C= (p.Asp161=) c.486C= (p.Asp162=) c.5-27008C= (n.5-27008C=) c.-43-16438C= (n.-43-16438C=) c.-99+34312C= (n.-99+34312C=) n.4306C= n.4347C= | |
17 | g.43090959G>T | CA10593382 | BRCA1 | c.4170C>A (p.Asp1390Glu) c.4044C>A (p.Asp1348Glu) c.4167C>A (p.Asp1389Glu) c.4092C>A (p.Asp1364Glu) c.858C>A (p.Asp286Glu) c.720C>A (p.Asp240Glu) c.3282C>A (p.Asp1094Glu) c.4047C>A (p.Asp1349Glu) c.4029C>A (p.Asp1343Glu) c.738C>A (p.Asp246Glu) c.780C>A (p.Asp260Glu) c.491C>A c.744C>A (p.Asp248Glu) c.*3953C>A (n.*3953C>A) c.464C>A c.861C>A (p.Asp287Glu) c.483C>A (p.Asp161Glu) c.486C>A (p.Asp162Glu) c.5-27008C>A (n.5-27008C>A) c.-43-16438C>A (n.-43-16438C>A) c.-99+34312C>A (n.-99+34312C>A) n.4306C>A n.4347C>A | |
17 | g.43090959_43090961delinsGTC | CA2260781647 | BRCA1 | c.4168_4170delinsGAC (p.Asp1390=) c.4042_4044delinsGAC (p.Asp1348=) c.4165_4167delinsGAC (p.Asp1389=) c.4090_4092delinsGAC (p.Asp1364=) c.856_858delinsGAC (p.Asp286=) c.718_720delinsGAC (p.Asp240=) c.3280_3282delinsGAC (p.Asp1094=) c.4045_4047delinsGAC (p.Asp1349=) c.4027_4029delinsGAC (p.Asp1343=) c.736_738delinsGAC (p.Asp246=) c.778_780delinsGAC (p.Asp260=) c.489_491delinsGAC c.742_744delinsGAC (p.Asp248=) c.*3951_*3953delinsGAC (n.*3951_*3953delinsGAC) c.462_464delinsGAC c.859_861delinsGAC (p.Asp287=) c.481_483delinsGAC (p.Asp161=) c.484_486delinsGAC (p.Asp162=) c.5-27010_5-27008delinsGAC (n.5-27010_5-27008delinsGAC) c.-43-16440_-43-16438delinsGAC (n.-43-16440_-43-16438delinsGAC) c.-99+34310_-99+34312delinsGAC (n.-99+34310_-99+34312delinsGAC) n.4304_4306delinsGAC n.4345_4347delinsGAC | |
17 | g.43090959_43090962del | CA002668 | BRCA1 | c.4167_4170del (p.Ser1389ArgfsTer3) c.4041_4044del (p.Ser1347ArgfsTer3) c.4164_4167del (p.Ser1388ArgfsTer3) c.4089_4092del (p.Ser1363ArgfsTer3) c.855_858del (p.Ser285ArgfsTer3) c.717_720del (p.Ser239ArgfsTer3) c.3279_3282del (p.Ser1093ArgfsTer3) c.4044_4047del (p.Ser1348ArgfsTer3) c.4026_4029del (p.Ser1342ArgfsTer3) c.735_738del (p.Ser245ArgfsTer3) c.777_780del (p.Ser259ArgfsTer3) c.488_491del c.741_744del (p.Ser247ArgfsTer3) c.*3950_*3953del (n.*3950_*3953del) c.461_464del c.858_861del (p.Ser286ArgfsTer3) c.480_483del (p.Ser160ArgfsTer3) c.483_486del (p.Ser161ArgfsTer3) c.5-27011_5-27008del (n.5-27011_5-27008del) c.-43-16441_-43-16438del (n.-43-16441_-43-16438del) c.-99+34309_-99+34312del (n.-99+34309_-99+34312del) n.4303_4306del n.4344_4347del | ClinVar dbSNP |
17 | g.43090960T>A | CA10593383 | BRCA1 | c.4169A>T (p.Asp1390Val) c.4043A>T (p.Asp1348Val) c.4166A>T (p.Asp1389Val) c.4091A>T (p.Asp1364Val) c.857A>T (p.Asp286Val) c.719A>T (p.Asp240Val) c.3281A>T (p.Asp1094Val) c.4046A>T (p.Asp1349Val) c.4028A>T (p.Asp1343Val) c.737A>T (p.Asp246Val) c.779A>T (p.Asp260Val) c.490A>T c.743A>T (p.Asp248Val) c.*3952A>T (n.*3952A>T) c.463A>T c.860A>T (p.Asp287Val) c.482A>T (p.Asp161Val) c.485A>T (p.Asp162Val) c.5-27009A>T (n.5-27009A>T) c.-43-16439A>T (n.-43-16439A>T) c.-99+34311A>T (n.-99+34311A>T) n.4305A>T n.4346A>T | dbSNP |
17 | g.43090960T>C | CA10593384 | BRCA1 | c.4169A>G (p.Asp1390Gly) c.4043A>G (p.Asp1348Gly) c.4166A>G (p.Asp1389Gly) c.4091A>G (p.Asp1364Gly) c.857A>G (p.Asp286Gly) c.719A>G (p.Asp240Gly) c.3281A>G (p.Asp1094Gly) c.4046A>G (p.Asp1349Gly) c.4028A>G (p.Asp1343Gly) c.737A>G (p.Asp246Gly) c.779A>G (p.Asp260Gly) c.490A>G c.743A>G (p.Asp248Gly) c.*3952A>G (n.*3952A>G) c.463A>G c.860A>G (p.Asp287Gly) c.482A>G (p.Asp161Gly) c.485A>G (p.Asp162Gly) c.5-27009A>G (n.5-27009A>G) c.-43-16439A>G (n.-43-16439A>G) c.-99+34311A>G (n.-99+34311A>G) n.4305A>G n.4346A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090960T>G | CA10593385 | BRCA1 | c.4169A>C (p.Asp1390Ala) c.4043A>C (p.Asp1348Ala) c.4166A>C (p.Asp1389Ala) c.4091A>C (p.Asp1364Ala) c.857A>C (p.Asp286Ala) c.719A>C (p.Asp240Ala) c.3281A>C (p.Asp1094Ala) c.4046A>C (p.Asp1349Ala) c.4028A>C (p.Asp1343Ala) c.737A>C (p.Asp246Ala) c.779A>C (p.Asp260Ala) c.490A>C c.743A>C (p.Asp248Ala) c.*3952A>C (n.*3952A>C) c.463A>C c.860A>C (p.Asp287Ala) c.482A>C (p.Asp161Ala) c.485A>C (p.Asp162Ala) c.5-27009A>C (n.5-27009A>C) c.-43-16439A>C (n.-43-16439A>C) c.-99+34311A>C (n.-99+34311A>C) n.4305A>C n.4346A>C | dbSNP |
17 | g.43090960T= | CA2260781649 | BRCA1 | c.4169A= (p.Asp1390=) c.4043A= (p.Asp1348=) c.4166A= (p.Asp1389=) c.4091A= (p.Asp1364=) c.857A= (p.Asp286=) c.719A= (p.Asp240=) c.3281A= (p.Asp1094=) c.4046A= (p.Asp1349=) c.4028A= (p.Asp1343=) c.737A= (p.Asp246=) c.779A= (p.Asp260=) c.490A= c.743A= (p.Asp248=) c.*3952A= (n.*3952A=) c.463A= c.860A= (p.Asp287=) c.482A= (p.Asp161=) c.485A= (p.Asp162=) c.5-27009A= (n.5-27009A=) c.-43-16439A= (n.-43-16439A=) c.-99+34311A= (n.-99+34311A=) n.4305A= n.4346A= | |
17 | g.43090960_43090961del | CA658825026 | BRCA1 | c.4168_4169del (p.Asp1390HisfsTer13) c.4042_4043del (p.Asp1348HisfsTer13) c.4165_4166del (p.Asp1389HisfsTer12) c.4090_4091del (p.Asp1364HisfsTer13) c.856_857del (p.Asp286HisfsTer13) c.718_719del (p.Asp240HisfsTer13) c.3280_3281del (p.Asp1094HisfsTer13) c.4045_4046del (p.Asp1349HisfsTer13) c.4027_4028del (p.Asp1343HisfsTer13) c.736_737del (p.Asp246HisfsTer12) c.778_779del (p.Asp260HisfsTer13) c.489_490del c.742_743del (p.Asp248HisfsTer13) c.*3951_*3952del (n.*3951_*3952del) c.462_463del c.859_860del (p.Asp287HisfsTer13) c.481_482del (p.Asp161HisfsTer13) c.484_485del (p.Asp162HisfsTer13) c.5-27010_5-27009del (n.5-27010_5-27009del) c.-43-16440_-43-16439del (n.-43-16440_-43-16439del) c.-99+34310_-99+34311del (n.-99+34310_-99+34311del) n.4304_4305del n.4345_4346del | ClinVar dbSNP |
17 | g.43090960_43090961dup | CA658825025 | BRCA1 | c.4168_4169dup (p.Asp1390GlufsTer4) c.4042_4043dup (p.Asp1348GlufsTer4) c.4165_4166dup (p.Asp1389GlufsTer4) c.4090_4091dup (p.Asp1364GlufsTer4) c.856_857dup (p.Asp286GlufsTer4) c.718_719dup (p.Asp240GlufsTer4) c.3280_3281dup (p.Asp1094GlufsTer4) c.4045_4046dup (p.Asp1349GlufsTer4) c.4027_4028dup (p.Asp1343GlufsTer4) c.736_737dup (p.Asp246GlufsTer4) c.778_779dup (p.Asp260GlufsTer4) c.489_490dup c.742_743dup (p.Asp248GlufsTer4) c.*3951_*3952dup (n.*3951_*3952dup) c.462_463dup c.859_860dup (p.Asp287GlufsTer4) c.481_482dup (p.Asp161GlufsTer4) c.484_485dup (p.Asp162GlufsTer4) c.5-27010_5-27009dup (n.5-27010_5-27009dup) c.-43-16440_-43-16439dup (n.-43-16440_-43-16439dup) c.-99+34310_-99+34311dup (n.-99+34310_-99+34311dup) n.4304_4305dup n.4345_4346dup | ClinVar dbSNP |
17 | g.43090960_43090962delinsTCA | CA2260781648 | BRCA1 | c.4167_4169delinsTGA (p.Ser1389=) c.4041_4043delinsTGA (p.Ser1347=) c.4164_4166delinsTGA (p.Ser1388=) c.4089_4091delinsTGA (p.Ser1363=) c.855_857delinsTGA (p.Ser285=) c.717_719delinsTGA (p.Ser239=) c.3279_3281delinsTGA (p.Ser1093=) c.4044_4046delinsTGA (p.Ser1348=) c.4026_4028delinsTGA (p.Ser1342=) c.735_737delinsTGA (p.Ser245=) c.777_779delinsTGA (p.Ser259=) c.488_490delinsTGA c.741_743delinsTGA (p.Ser247=) c.*3950_*3952delinsTGA (n.*3950_*3952delinsTGA) c.461_463delinsTGA c.858_860delinsTGA (p.Ser286=) c.480_482delinsTGA (p.Ser160=) c.483_485delinsTGA (p.Ser161=) c.5-27011_5-27009delinsTGA (n.5-27011_5-27009delinsTGA) c.-43-16441_-43-16439delinsTGA (n.-43-16441_-43-16439delinsTGA) c.-99+34309_-99+34311delinsTGA (n.-99+34309_-99+34311delinsTGA) n.4303_4305delinsTGA n.4344_4346delinsTGA | |
17 | g.43090961C>A | CA10593386 | BRCA1 | c.4168G>T (p.Asp1390Tyr) c.4042G>T (p.Asp1348Tyr) c.4165G>T (p.Asp1389Tyr) c.4090G>T (p.Asp1364Tyr) c.856G>T (p.Asp286Tyr) c.718G>T (p.Asp240Tyr) c.3280G>T (p.Asp1094Tyr) c.4045G>T (p.Asp1349Tyr) c.4027G>T (p.Asp1343Tyr) c.736G>T (p.Asp246Tyr) c.778G>T (p.Asp260Tyr) c.489G>T c.742G>T (p.Asp248Tyr) c.*3951G>T (n.*3951G>T) c.462G>T c.859G>T (p.Asp287Tyr) c.481G>T (p.Asp161Tyr) c.484G>T (p.Asp162Tyr) c.5-27010G>T (n.5-27010G>T) c.-43-16440G>T (n.-43-16440G>T) c.-99+34310G>T (n.-99+34310G>T) n.4304G>T n.4345G>T | gnomAD v4 |
17 | g.43090961C= | CA2260781650 | BRCA1 | c.4168G= (p.Asp1390=) c.4042G= (p.Asp1348=) c.4165G= (p.Asp1389=) c.4090G= (p.Asp1364=) c.856G= (p.Asp286=) c.718G= (p.Asp240=) c.3280G= (p.Asp1094=) c.4045G= (p.Asp1349=) c.4027G= (p.Asp1343=) c.736G= (p.Asp246=) c.778G= (p.Asp260=) c.489G= c.742G= (p.Asp248=) c.*3951G= (n.*3951G=) c.462G= c.859G= (p.Asp287=) c.481G= (p.Asp161=) c.484G= (p.Asp162=) c.5-27010G= (n.5-27010G=) c.-43-16440G= (n.-43-16440G=) c.-99+34310G= (n.-99+34310G=) n.4304G= n.4345G= | |
17 | g.43090961C>G | CA10593387 | BRCA1 | c.4168G>C (p.Asp1390His) c.4042G>C (p.Asp1348His) c.4165G>C (p.Asp1389His) c.4090G>C (p.Asp1364His) c.856G>C (p.Asp286His) c.718G>C (p.Asp240His) c.3280G>C (p.Asp1094His) c.4045G>C (p.Asp1349His) c.4027G>C (p.Asp1343His) c.736G>C (p.Asp246His) c.778G>C (p.Asp260His) c.489G>C c.742G>C (p.Asp248His) c.*3951G>C (n.*3951G>C) c.462G>C c.859G>C (p.Asp287His) c.481G>C (p.Asp161His) c.484G>C (p.Asp162His) c.5-27010G>C (n.5-27010G>C) c.-43-16440G>C (n.-43-16440G>C) c.-99+34310G>C (n.-99+34310G>C) n.4304G>C n.4345G>C | dbSNP |
17 | g.43090961C>T | CA059498 | BRCA1 | c.4168G>A (p.Asp1390Asn) c.4042G>A (p.Asp1348Asn) c.4165G>A (p.Asp1389Asn) c.4090G>A (p.Asp1364Asn) c.856G>A (p.Asp286Asn) c.718G>A (p.Asp240Asn) c.3280G>A (p.Asp1094Asn) c.4045G>A (p.Asp1349Asn) c.4027G>A (p.Asp1343Asn) c.736G>A (p.Asp246Asn) c.778G>A (p.Asp260Asn) c.489G>A c.742G>A (p.Asp248Asn) c.*3951G>A (n.*3951G>A) c.462G>A c.859G>A (p.Asp287Asn) c.481G>A (p.Asp161Asn) c.484G>A (p.Asp162Asn) c.5-27010G>A (n.5-27010G>A) c.-43-16440G>A (n.-43-16440G>A) c.-99+34310G>A (n.-99+34310G>A) n.4304G>A n.4345G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090961_43090962delinsCA | CA2260781651 | BRCA1 | c.4167_4168delinsTG (p.Ser1389=) c.4041_4042delinsTG (p.Ser1347=) c.4164_4165delinsTG (p.Ser1388=) c.4089_4090delinsTG (p.Ser1363=) c.855_856delinsTG (p.Ser285=) c.717_718delinsTG (p.Ser239=) c.3279_3280delinsTG (p.Ser1093=) c.4044_4045delinsTG (p.Ser1348=) c.4026_4027delinsTG (p.Ser1342=) c.735_736delinsTG (p.Ser245=) c.777_778delinsTG (p.Ser259=) c.488_489delinsTG c.741_742delinsTG (p.Ser247=) c.*3950_*3951delinsTG (n.*3950_*3951delinsTG) c.461_462delinsTG c.858_859delinsTG (p.Ser286=) c.480_481delinsTG (p.Ser160=) c.483_484delinsTG (p.Ser161=) c.5-27011_5-27010delinsTG (n.5-27011_5-27010delinsTG) c.-43-16441_-43-16440delinsTG (n.-43-16441_-43-16440delinsTG) c.-99+34309_-99+34310delinsTG (n.-99+34309_-99+34310delinsTG) n.4303_4304delinsTG n.4344_4345delinsTG | |
17 | g.43090962_43090963del | CA002666 | BRCA1 | c.4167_4168del (p.Ser1389ArgfsTer14) c.4041_4042del (p.Ser1347ArgfsTer14) c.4164_4165del (p.Ser1388ArgfsTer13) c.4089_4090del (p.Ser1363ArgfsTer14) c.855_856del (p.Ser285ArgfsTer14) c.717_718del (p.Ser239ArgfsTer14) c.3279_3280del (p.Ser1093ArgfsTer14) c.4044_4045del (p.Ser1348ArgfsTer14) c.4026_4027del (p.Ser1342ArgfsTer14) c.735_736del (p.Ser245ArgfsTer13) c.777_778del (p.Ser259ArgfsTer14) c.488_489del c.741_742del (p.Ser247ArgfsTer14) c.*3950_*3951del (n.*3950_*3951del) c.461_462del c.858_859del (p.Ser286ArgfsTer14) c.480_481del (p.Ser160ArgfsTer14) c.483_484del (p.Ser161ArgfsTer14) c.5-27011_5-27010del (n.5-27011_5-27010del) c.-43-16441_-43-16440del (n.-43-16441_-43-16440del) c.-99+34309_-99+34310del (n.-99+34309_-99+34310del) n.4303_4304del n.4344_4345del | ClinVar dbSNP |
17 | g.43090961_43090962insCT | CA002667 | BRCA1 | c.4167_4168insAG (p.Asp1390ArgfsTer4) c.4041_4042insAG (p.Asp1348ArgfsTer4) c.4164_4165insAG (p.Asp1389ArgfsTer4) c.4089_4090insAG (p.Asp1364ArgfsTer4) c.855_856insAG (p.Asp286ArgfsTer4) c.717_718insAG (p.Asp240ArgfsTer4) c.3279_3280insAG (p.Asp1094ArgfsTer4) c.4044_4045insAG (p.Asp1349ArgfsTer4) c.4026_4027insAG (p.Asp1343ArgfsTer4) c.735_736insAG (p.Asp246ArgfsTer4) c.777_778insAG (p.Asp260ArgfsTer4) c.488_489insAG c.741_742insAG (p.Asp248ArgfsTer4) c.*3950_*3951insAG (n.*3950_*3951insAG) c.461_462insAG c.858_859insAG (p.Asp287ArgfsTer4) c.480_481insAG (p.Asp161ArgfsTer4) c.483_484insAG (p.Asp162ArgfsTer4) c.5-27011_5-27010insAG (n.5-27011_5-27010insAG) c.-43-16441_-43-16440insAG (n.-43-16441_-43-16440insAG) c.-99+34309_-99+34310insAG (n.-99+34309_-99+34310insAG) n.4303_4304insAG n.4344_4345insAG | ClinVar dbSNP |
17 | g.43090962del | CA002669 | BRCA1 | c.4167del (p.Ser1389ArgfsTer4) c.4041del (p.Ser1347ArgfsTer4) c.4164del (p.Ser1388ArgfsTer4) c.4089del (p.Ser1363ArgfsTer4) c.855del (p.Ser285ArgfsTer4) c.717del (p.Ser239ArgfsTer4) c.3279del (p.Ser1093ArgfsTer4) c.4044del (p.Ser1348ArgfsTer4) c.4026del (p.Ser1342ArgfsTer4) c.735del (p.Ser245ArgfsTer4) c.777del (p.Ser259ArgfsTer4) c.488del c.741del (p.Ser247ArgfsTer4) c.*3950del (n.*3950del) c.461del c.858del (p.Ser286ArgfsTer4) c.480del (p.Ser160ArgfsTer4) c.483del (p.Ser161ArgfsTer4) c.5-27011del (n.5-27011del) c.-43-16441del (n.-43-16441del) c.-99+34309del (n.-99+34309del) n.4303del n.4344del | ClinVar dbSNP |
17 | g.43090962A>C | CA10593388 | BRCA1 | c.4167T>G (p.Ser1389Arg) c.4041T>G (p.Ser1347Arg) c.4164T>G (p.Ser1388Arg) c.4089T>G (p.Ser1363Arg) c.855T>G (p.Ser285Arg) c.717T>G (p.Ser239Arg) c.3279T>G (p.Ser1093Arg) c.4044T>G (p.Ser1348Arg) c.4026T>G (p.Ser1342Arg) c.735T>G (p.Ser245Arg) c.777T>G (p.Ser259Arg) c.488T>G c.741T>G (p.Ser247Arg) c.*3950T>G (n.*3950T>G) c.461T>G c.858T>G (p.Ser286Arg) c.480T>G (p.Ser160Arg) c.483T>G (p.Ser161Arg) c.5-27011T>G (n.5-27011T>G) c.-43-16441T>G (n.-43-16441T>G) c.-99+34309T>G (n.-99+34309T>G) n.4303T>G n.4344T>G | |
17 | g.43090962A>G | CA500122899 | BRCA1 | c.4167T>C (p.Ser1389=) c.4041T>C (p.Ser1347=) c.4164T>C (p.Ser1388=) c.4089T>C (p.Ser1363=) c.855T>C (p.Ser285=) c.717T>C (p.Ser239=) c.3279T>C (p.Ser1093=) c.4044T>C (p.Ser1348=) c.4026T>C (p.Ser1342=) c.735T>C (p.Ser245=) c.777T>C (p.Ser259=) c.488T>C c.741T>C (p.Ser247=) c.*3950T>C (n.*3950T>C) c.461T>C c.858T>C (p.Ser286=) c.480T>C (p.Ser160=) c.483T>C (p.Ser161=) c.5-27011T>C (n.5-27011T>C) c.-43-16441T>C (n.-43-16441T>C) c.-99+34309T>C (n.-99+34309T>C) n.4303T>C n.4344T>C | |
17 | g.43090962A>T | CA10593389 | BRCA1 | c.4167T>A (p.Ser1389Arg) c.4041T>A (p.Ser1347Arg) c.4164T>A (p.Ser1388Arg) c.4089T>A (p.Ser1363Arg) c.855T>A (p.Ser285Arg) c.717T>A (p.Ser239Arg) c.3279T>A (p.Ser1093Arg) c.4044T>A (p.Ser1348Arg) c.4026T>A (p.Ser1342Arg) c.735T>A (p.Ser245Arg) c.777T>A (p.Ser259Arg) c.488T>A c.741T>A (p.Ser247Arg) c.*3950T>A (n.*3950T>A) c.461T>A c.858T>A (p.Ser286Arg) c.480T>A (p.Ser160Arg) c.483T>A (p.Ser161Arg) c.5-27011T>A (n.5-27011T>A) c.-43-16441T>A (n.-43-16441T>A) c.-99+34309T>A (n.-99+34309T>A) n.4303T>A n.4344T>A | |
17 | g.43090962_43090964delinsACT | CA2260781653 | BRCA1 | c.4165_4167delinsAGT (p.Ser1389=) c.4039_4041delinsAGT (p.Ser1347=) c.4162_4164delinsAGT (p.Ser1388=) c.4087_4089delinsAGT (p.Ser1363=) c.853_855delinsAGT (p.Ser285=) c.715_717delinsAGT (p.Ser239=) c.3277_3279delinsAGT (p.Ser1093=) c.4042_4044delinsAGT (p.Ser1348=) c.4024_4026delinsAGT (p.Ser1342=) c.733_735delinsAGT (p.Ser245=) c.775_777delinsAGT (p.Ser259=) c.486_488delinsAGT c.739_741delinsAGT (p.Ser247=) c.*3948_*3950delinsAGT (n.*3948_*3950delinsAGT) c.459_461delinsAGT c.856_858delinsAGT (p.Ser286=) c.478_480delinsAGT (p.Ser160=) c.481_483delinsAGT (p.Ser161=) c.5-27013_5-27011delinsAGT (n.5-27013_5-27011delinsAGT) c.-43-16443_-43-16441delinsAGT (n.-43-16443_-43-16441delinsAGT) c.-99+34307_-99+34309delinsAGT (n.-99+34307_-99+34309delinsAGT) n.4301_4303delinsAGT n.4342_4344delinsAGT | |
17 | g.43090962_43090966delinsACTCT | CA2260781652 | BRCA1 | c.4163_4167delinsAGAGT (p.Gln1388=) c.4037_4041delinsAGAGT (p.Gln1346=) c.4160_4164delinsAGAGT (p.Gln1387=) c.4085_4089delinsAGAGT (p.Gln1362=) c.851_855delinsAGAGT (p.Gln284=) c.713_717delinsAGAGT (p.Gln238=) c.3275_3279delinsAGAGT (p.Gln1092=) c.4040_4044delinsAGAGT (p.Gln1347=) c.4022_4026delinsAGAGT (p.Gln1341=) c.731_735delinsAGAGT (p.Gln244=) c.773_777delinsAGAGT (p.Gln258=) c.484_488delinsAGAGT c.737_741delinsAGAGT (p.Gln246=) c.*3946_*3950delinsAGAGT (n.*3946_*3950delinsAGAGT) c.457_461delinsAGAGT c.854_858delinsAGAGT (p.Gln285=) c.476_480delinsAGAGT (p.Gln159=) c.479_483delinsAGAGT (p.Gln160=) c.5-27015_5-27011delinsAGAGT (n.5-27015_5-27011delinsAGAGT) c.-43-16445_-43-16441delinsAGAGT (n.-43-16445_-43-16441delinsAGAGT) c.-99+34305_-99+34309delinsAGAGT (n.-99+34305_-99+34309delinsAGAGT) n.4299_4303delinsAGAGT n.4340_4344delinsAGAGT | |
17 | g.43090963C>A | CA10593390 | BRCA1 | c.4166G>T (p.Ser1389Ile) c.4040G>T (p.Ser1347Ile) c.4163G>T (p.Ser1388Ile) c.4088G>T (p.Ser1363Ile) c.854G>T (p.Ser285Ile) c.716G>T (p.Ser239Ile) c.3278G>T (p.Ser1093Ile) c.4043G>T (p.Ser1348Ile) c.4025G>T (p.Ser1342Ile) c.734G>T (p.Ser245Ile) c.776G>T (p.Ser259Ile) c.487G>T c.740G>T (p.Ser247Ile) c.*3949G>T (n.*3949G>T) c.460G>T c.857G>T (p.Ser286Ile) c.479G>T (p.Ser160Ile) c.482G>T (p.Ser161Ile) c.5-27012G>T (n.5-27012G>T) c.-43-16442G>T (n.-43-16442G>T) c.-99+34308G>T (n.-99+34308G>T) n.4302G>T n.4343G>T | dbSNP |
17 | g.43090963C= | CA2260781654 | BRCA1 | c.4166G= (p.Ser1389=) c.4040G= (p.Ser1347=) c.4163G= (p.Ser1388=) c.4088G= (p.Ser1363=) c.854G= (p.Ser285=) c.716G= (p.Ser239=) c.3278G= (p.Ser1093=) c.4043G= (p.Ser1348=) c.4025G= (p.Ser1342=) c.734G= (p.Ser245=) c.776G= (p.Ser259=) c.487G= c.740G= (p.Ser247=) c.*3949G= (n.*3949G=) c.460G= c.857G= (p.Ser286=) c.479G= (p.Ser160=) c.482G= (p.Ser161=) c.5-27012G= (n.5-27012G=) c.-43-16442G= (n.-43-16442G=) c.-99+34308G= (n.-99+34308G=) n.4302G= n.4343G= | |
17 | g.43090963C>G | CA10593391 | BRCA1 | c.4166G>C (p.Ser1389Thr) c.4040G>C (p.Ser1347Thr) c.4163G>C (p.Ser1388Thr) c.4088G>C (p.Ser1363Thr) c.854G>C (p.Ser285Thr) c.716G>C (p.Ser239Thr) c.3278G>C (p.Ser1093Thr) c.4043G>C (p.Ser1348Thr) c.4025G>C (p.Ser1342Thr) c.734G>C (p.Ser245Thr) c.776G>C (p.Ser259Thr) c.487G>C c.740G>C (p.Ser247Thr) c.*3949G>C (n.*3949G>C) c.460G>C c.857G>C (p.Ser286Thr) c.479G>C (p.Ser160Thr) c.482G>C (p.Ser161Thr) c.5-27012G>C (n.5-27012G>C) c.-43-16442G>C (n.-43-16442G>C) c.-99+34308G>C (n.-99+34308G>C) n.4302G>C n.4343G>C | dbSNP |
17 | g.43090963C>T | CA002665 | BRCA1 | c.4166G>A (p.Ser1389Asn) c.4040G>A (p.Ser1347Asn) c.4163G>A (p.Ser1388Asn) c.4088G>A (p.Ser1363Asn) c.854G>A (p.Ser285Asn) c.716G>A (p.Ser239Asn) c.3278G>A (p.Ser1093Asn) c.4043G>A (p.Ser1348Asn) c.4025G>A (p.Ser1342Asn) c.734G>A (p.Ser245Asn) c.776G>A (p.Ser259Asn) c.487G>A c.740G>A (p.Ser247Asn) c.*3949G>A (n.*3949G>A) c.460G>A c.857G>A (p.Ser286Asn) c.479G>A (p.Ser160Asn) c.482G>A (p.Ser161Asn) c.5-27012G>A (n.5-27012G>A) c.-43-16442G>A (n.-43-16442G>A) c.-99+34308G>A (n.-99+34308G>A) n.4302G>A n.4343G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090963_43090964delinsCT | CA2260781655 | BRCA1 | c.4165_4166delinsAG (p.Ser1389=) c.4039_4040delinsAG (p.Ser1347=) c.4162_4163delinsAG (p.Ser1388=) c.4087_4088delinsAG (p.Ser1363=) c.853_854delinsAG (p.Ser285=) c.715_716delinsAG (p.Ser239=) c.3277_3278delinsAG (p.Ser1093=) c.4042_4043delinsAG (p.Ser1348=) c.4024_4025delinsAG (p.Ser1342=) c.733_734delinsAG (p.Ser245=) c.775_776delinsAG (p.Ser259=) c.486_487delinsAG c.739_740delinsAG (p.Ser247=) c.*3948_*3949delinsAG (n.*3948_*3949delinsAG) c.459_460delinsAG c.856_857delinsAG (p.Ser286=) c.478_479delinsAG (p.Ser160=) c.481_482delinsAG (p.Ser161=) c.5-27013_5-27012delinsAG (n.5-27013_5-27012delinsAG) c.-43-16443_-43-16442delinsAG (n.-43-16443_-43-16442delinsAG) c.-99+34307_-99+34308delinsAG (n.-99+34307_-99+34308delinsAG) n.4301_4302delinsAG n.4342_4343delinsAG | |
17 | g.43090963_43090966del | CA002663 | BRCA1 | c.4163_4166del (p.Gln1388LeufsTer4) c.4037_4040del (p.Gln1346LeufsTer4) c.4160_4163del (p.Gln1387LeufsTer4) c.4085_4088del (p.Gln1362LeufsTer4) c.851_854del (p.Gln284LeufsTer4) c.713_716del (p.Gln238LeufsTer4) c.3275_3278del (p.Gln1092LeufsTer4) c.4040_4043del (p.Gln1347LeufsTer4) c.4022_4025del (p.Gln1341LeufsTer4) c.731_734del (p.Gln244LeufsTer4) c.773_776del (p.Gln258LeufsTer4) c.484_487del c.737_740del (p.Gln246LeufsTer4) c.*3946_*3949del (n.*3946_*3949del) c.457_460del c.854_857del (p.Gln285LeufsTer4) c.476_479del (p.Gln159LeufsTer4) c.479_482del (p.Gln160LeufsTer4) c.5-27015_5-27012del (n.5-27015_5-27012del) c.-43-16445_-43-16442del (n.-43-16445_-43-16442del) c.-99+34305_-99+34308del (n.-99+34305_-99+34308del) n.4299_4302del n.4340_4343del | ClinVar dbSNP |
17 | g.43090965_43090966dup | CA327913 | BRCA1 | c.4165_4166dup (p.Ser1389ArgfsTer5) c.4039_4040dup (p.Ser1347ArgfsTer5) c.4162_4163dup (p.Ser1388ArgfsTer5) c.4087_4088dup (p.Ser1363ArgfsTer5) c.853_854dup (p.Ser285ArgfsTer5) c.715_716dup (p.Ser239ArgfsTer5) c.3277_3278dup (p.Ser1093ArgfsTer5) c.4042_4043dup (p.Ser1348ArgfsTer5) c.4024_4025dup (p.Ser1342ArgfsTer5) c.733_734dup (p.Ser245ArgfsTer5) c.775_776dup (p.Ser259ArgfsTer5) c.486_487dup c.739_740dup (p.Ser247ArgfsTer5) c.*3948_*3949dup (n.*3948_*3949dup) c.459_460dup c.856_857dup (p.Ser286ArgfsTer5) c.478_479dup (p.Ser160ArgfsTer5) c.481_482dup (p.Ser161ArgfsTer5) c.5-27013_5-27012dup (n.5-27013_5-27012dup) c.-43-16443_-43-16442dup (n.-43-16443_-43-16442dup) c.-99+34307_-99+34308dup (n.-99+34307_-99+34308dup) n.4301_4302dup n.4342_4343dup | ClinVar dbSNP |
17 | g.43090965_43090966del | CA002664 | BRCA1 | c.4165_4166del (p.Ser1389Ter) c.4039_4040del (p.Ser1347Ter) c.4162_4163del (p.Ser1388Ter) c.4087_4088del (p.Ser1363Ter) c.853_854del (p.Ser285Ter) c.715_716del (p.Ser239Ter) c.3277_3278del (p.Ser1093Ter) c.4042_4043del (p.Ser1348Ter) c.4024_4025del (p.Ser1342Ter) c.733_734del (p.Ser245Ter) c.775_776del (p.Ser259Ter) c.486_487del c.739_740del (p.Ser247Ter) c.*3948_*3949del (n.*3948_*3949del) c.459_460del c.856_857del (p.Ser286Ter) c.478_479del (p.Ser160Ter) c.481_482del (p.Ser161Ter) c.5-27013_5-27012del (n.5-27013_5-27012del) c.-43-16443_-43-16442del (n.-43-16443_-43-16442del) c.-99+34307_-99+34308del (n.-99+34307_-99+34308del) n.4301_4302del n.4342_4343del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43090964del | CA913187782 | BRCA1 | c.4165del (p.Ser1389ValfsTer4) c.4039del (p.Ser1347ValfsTer4) c.4162del (p.Ser1388ValfsTer4) c.4087del (p.Ser1363ValfsTer4) c.853del (p.Ser285ValfsTer4) c.715del (p.Ser239ValfsTer4) c.3277del (p.Ser1093ValfsTer4) c.4042del (p.Ser1348ValfsTer4) c.4024del (p.Ser1342ValfsTer4) c.733del (p.Ser245ValfsTer4) c.775del (p.Ser259ValfsTer4) c.486del c.739del (p.Ser247ValfsTer4) c.*3948del (n.*3948del) c.459del c.856del (p.Ser286ValfsTer4) c.478del (p.Ser160ValfsTer4) c.481del (p.Ser161ValfsTer4) c.5-27013del (n.5-27013del) c.-43-16443del (n.-43-16443del) c.-99+34307del (n.-99+34307del) n.4301del n.4342del | ClinVar dbSNP |
17 | g.43090964T>A | CA10593392 | BRCA1 | c.4165A>T (p.Ser1389Cys) c.4039A>T (p.Ser1347Cys) c.4162A>T (p.Ser1388Cys) c.4087A>T (p.Ser1363Cys) c.853A>T (p.Ser285Cys) c.715A>T (p.Ser239Cys) c.3277A>T (p.Ser1093Cys) c.4042A>T (p.Ser1348Cys) c.4024A>T (p.Ser1342Cys) c.733A>T (p.Ser245Cys) c.775A>T (p.Ser259Cys) c.486A>T c.739A>T (p.Ser247Cys) c.*3948A>T (n.*3948A>T) c.459A>T c.856A>T (p.Ser286Cys) c.478A>T (p.Ser160Cys) c.481A>T (p.Ser161Cys) c.5-27013A>T (n.5-27013A>T) c.-43-16443A>T (n.-43-16443A>T) c.-99+34307A>T (n.-99+34307A>T) n.4301A>T n.4342A>T | dbSNP |
17 | g.43090964T>C | CA10593393 | BRCA1 | c.4165A>G (p.Ser1389Gly) c.4039A>G (p.Ser1347Gly) c.4162A>G (p.Ser1388Gly) c.4087A>G (p.Ser1363Gly) c.853A>G (p.Ser285Gly) c.715A>G (p.Ser239Gly) c.3277A>G (p.Ser1093Gly) c.4042A>G (p.Ser1348Gly) c.4024A>G (p.Ser1342Gly) c.733A>G (p.Ser245Gly) c.775A>G (p.Ser259Gly) c.486A>G c.739A>G (p.Ser247Gly) c.*3948A>G (n.*3948A>G) c.459A>G c.856A>G (p.Ser286Gly) c.478A>G (p.Ser160Gly) c.481A>G (p.Ser161Gly) c.5-27013A>G (n.5-27013A>G) c.-43-16443A>G (n.-43-16443A>G) c.-99+34307A>G (n.-99+34307A>G) n.4301A>G n.4342A>G | dbSNP |
17 | g.43090964T>G | CA10593394 | BRCA1 | c.4165A>C (p.Ser1389Arg) c.4039A>C (p.Ser1347Arg) c.4162A>C (p.Ser1388Arg) c.4087A>C (p.Ser1363Arg) c.853A>C (p.Ser285Arg) c.715A>C (p.Ser239Arg) c.3277A>C (p.Ser1093Arg) c.4042A>C (p.Ser1348Arg) c.4024A>C (p.Ser1342Arg) c.733A>C (p.Ser245Arg) c.775A>C (p.Ser259Arg) c.486A>C c.739A>C (p.Ser247Arg) c.*3948A>C (n.*3948A>C) c.459A>C c.856A>C (p.Ser286Arg) c.478A>C (p.Ser160Arg) c.481A>C (p.Ser161Arg) c.5-27013A>C (n.5-27013A>C) c.-43-16443A>C (n.-43-16443A>C) c.-99+34307A>C (n.-99+34307A>C) n.4301A>C n.4342A>C | ClinVar dbSNP |
17 | g.43090964T= | CA2260781656 | BRCA1 | c.4165A= (p.Ser1389=) c.4039A= (p.Ser1347=) c.4162A= (p.Ser1388=) c.4087A= (p.Ser1363=) c.853A= (p.Ser285=) c.715A= (p.Ser239=) c.3277A= (p.Ser1093=) c.4042A= (p.Ser1348=) c.4024A= (p.Ser1342=) c.733A= (p.Ser245=) c.775A= (p.Ser259=) c.486A= c.739A= (p.Ser247=) c.*3948A= (n.*3948A=) c.459A= c.856A= (p.Ser286=) c.478A= (p.Ser160=) c.481A= (p.Ser161=) c.5-27013A= (n.5-27013A=) c.-43-16443A= (n.-43-16443A=) c.-99+34307A= (n.-99+34307A=) n.4301A= n.4342A= | |
17 | g.43090964_43090968delinsTCTGA | CA2260781657 | BRCA1 | c.4161_4165delinsTCAGA (p.Ser1387=) c.4035_4039delinsTCAGA (p.Ser1345=) c.4158_4162delinsTCAGA (p.Ser1386=) c.4083_4087delinsTCAGA (p.Ser1361=) c.849_853delinsTCAGA (p.Ser283=) c.711_715delinsTCAGA (p.Ser237=) c.3273_3277delinsTCAGA (p.Ser1091=) c.4038_4042delinsTCAGA (p.Ser1346=) c.4020_4024delinsTCAGA (p.Ser1340=) c.729_733delinsTCAGA (p.Ser243=) c.771_775delinsTCAGA (p.Ser257=) c.482_486delinsTCAGA c.735_739delinsTCAGA (p.Ser245=) c.*3944_*3948delinsTCAGA (n.*3944_*3948delinsTCAGA) c.455_459delinsTCAGA c.852_856delinsTCAGA (p.Ser284=) c.474_478delinsTCAGA (p.Ser158=) c.477_481delinsTCAGA (p.Ser159=) c.5-27017_5-27013delinsTCAGA (n.5-27017_5-27013delinsTCAGA) c.-43-16447_-43-16443delinsTCAGA (n.-43-16447_-43-16443delinsTCAGA) c.-99+34303_-99+34307delinsTCAGA (n.-99+34303_-99+34307delinsTCAGA) n.4297_4301delinsTCAGA n.4338_4342delinsTCAGA | |
17 | g.43090964_43090978delinsTCTGAGAGGATAGCC | CA2260781658 | BRCA1 | c.4151_4165delinsGGCTATCCTCTCAGA (p.Gly1384=) c.4025_4039delinsGGCTATCCTCTCAGA (p.Gly1342=) c.4148_4162delinsGGCTATCCTCTCAGA (p.Gly1383=) c.4073_4087delinsGGCTATCCTCTCAGA (p.Gly1358=) c.839_853delinsGGCTATCCTCTCAGA (p.Gly280=) c.701_715delinsGGCTATCCTCTCAGA (p.Gly234=) c.3263_3277delinsGGCTATCCTCTCAGA (p.Gly1088=) c.4028_4042delinsGGCTATCCTCTCAGA (p.Gly1343=) c.4010_4024delinsGGCTATCCTCTCAGA (p.Gly1337=) c.719_733delinsGGCTATCCTCTCAGA (p.Gly240=) c.761_775delinsGGCTATCCTCTCAGA (p.Gly254=) c.472_486delinsGGCTATCCTCTCAGA c.725_739delinsGGCTATCCTCTCAGA (p.Gly242=) c.*3934_*3948delinsGGCTATCCTCTCAGA (n.*3934_*3948delinsGGCTATCCTCTCAGA) c.445_459delinsGGCTATCCTCTCAGA c.842_856delinsGGCTATCCTCTCAGA (p.Gly281=) c.464_478delinsGGCTATCCTCTCAGA (p.Gly155=) c.467_481delinsGGCTATCCTCTCAGA (p.Gly156=) c.5-27027_5-27013delinsGGCTATCCTCTCAGA (n.5-27027_5-27013delinsGGCTATCCTCTCAGA) c.-43-16457_-43-16443delinsGGCTATCCTCTCAGA (n.-43-16457_-43-16443delinsGGCTATCCTCTCAGA) c.-99+34293_-99+34307delinsGGCTATCCTCTCAGA (n.-99+34293_-99+34307delinsGGCTATCCTCTCAGA) n.4287_4301delinsGGCTATCCTCTCAGA n.4328_4342delinsGGCTATCCTCTCAGA | |
17 | g.43090965C>A | CA10593395 | BRCA1 | c.4164G>T (p.Gln1388His) c.4038G>T (p.Gln1346His) c.4161G>T (p.Gln1387His) c.4086G>T (p.Gln1362His) c.852G>T (p.Gln284His) c.714G>T (p.Gln238His) c.3276G>T (p.Gln1092His) c.4041G>T (p.Gln1347His) c.4023G>T (p.Gln1341His) c.732G>T (p.Gln244His) c.774G>T (p.Gln258His) c.485G>T c.738G>T (p.Gln246His) c.*3947G>T (n.*3947G>T) c.458G>T c.855G>T (p.Gln285His) c.477G>T (p.Gln159His) c.480G>T (p.Gln160His) c.5-27014G>T (n.5-27014G>T) c.-43-16444G>T (n.-43-16444G>T) c.-99+34306G>T (n.-99+34306G>T) n.4300G>T n.4341G>T | ClinVar dbSNP |
17 | g.43090965C= | CA2260781659 | BRCA1 | c.4164G= (p.Gln1388=) c.4038G= (p.Gln1346=) c.4161G= (p.Gln1387=) c.4086G= (p.Gln1362=) c.852G= (p.Gln284=) c.714G= (p.Gln238=) c.3276G= (p.Gln1092=) c.4041G= (p.Gln1347=) c.4023G= (p.Gln1341=) c.732G= (p.Gln244=) c.774G= (p.Gln258=) c.485G= c.738G= (p.Gln246=) c.*3947G= (n.*3947G=) c.458G= c.855G= (p.Gln285=) c.477G= (p.Gln159=) c.480G= (p.Gln160=) c.5-27014G= (n.5-27014G=) c.-43-16444G= (n.-43-16444G=) c.-99+34306G= (n.-99+34306G=) n.4300G= n.4341G= | |
17 | g.43090965C>G | CA10593396 | BRCA1 | c.4164G>C (p.Gln1388His) c.4038G>C (p.Gln1346His) c.4161G>C (p.Gln1387His) c.4086G>C (p.Gln1362His) c.852G>C (p.Gln284His) c.714G>C (p.Gln238His) c.3276G>C (p.Gln1092His) c.4041G>C (p.Gln1347His) c.4023G>C (p.Gln1341His) c.732G>C (p.Gln244His) c.774G>C (p.Gln258His) c.485G>C c.738G>C (p.Gln246His) c.*3947G>C (n.*3947G>C) c.458G>C c.855G>C (p.Gln285His) c.477G>C (p.Gln159His) c.480G>C (p.Gln160His) c.5-27014G>C (n.5-27014G>C) c.-43-16444G>C (n.-43-16444G>C) c.-99+34306G>C (n.-99+34306G>C) n.4300G>C n.4341G>C | dbSNP |
17 | g.43090965C>T | CA500122919 | BRCA1 | c.4164G>A (p.Gln1388=) c.4038G>A (p.Gln1346=) c.4161G>A (p.Gln1387=) c.4086G>A (p.Gln1362=) c.852G>A (p.Gln284=) c.714G>A (p.Gln238=) c.3276G>A (p.Gln1092=) c.4041G>A (p.Gln1347=) c.4023G>A (p.Gln1341=) c.732G>A (p.Gln244=) c.774G>A (p.Gln258=) c.485G>A c.738G>A (p.Gln246=) c.*3947G>A (n.*3947G>A) c.458G>A c.855G>A (p.Gln285=) c.477G>A (p.Gln159=) c.480G>A (p.Gln160=) c.5-27014G>A (n.5-27014G>A) c.-43-16444G>A (n.-43-16444G>A) c.-99+34306G>A (n.-99+34306G>A) n.4300G>A n.4341G>A | ClinVar dbSNP COSMIC COSMIC |
17 | g.43090965_43090967delinsCTG | CA2260781660 | BRCA1 | c.4162_4164delinsCAG (p.Gln1388=) c.4036_4038delinsCAG (p.Gln1346=) c.4159_4161delinsCAG (p.Gln1387=) c.4084_4086delinsCAG (p.Gln1362=) c.850_852delinsCAG (p.Gln284=) c.712_714delinsCAG (p.Gln238=) c.3274_3276delinsCAG (p.Gln1092=) c.4039_4041delinsCAG (p.Gln1347=) c.4021_4023delinsCAG (p.Gln1341=) c.730_732delinsCAG (p.Gln244=) c.772_774delinsCAG (p.Gln258=) c.483_485delinsCAG c.736_738delinsCAG (p.Gln246=) c.*3945_*3947delinsCAG (n.*3945_*3947delinsCAG) c.456_458delinsCAG c.853_855delinsCAG (p.Gln285=) c.475_477delinsCAG (p.Gln159=) c.478_480delinsCAG (p.Gln160=) c.5-27016_5-27014delinsCAG (n.5-27016_5-27014delinsCAG) c.-43-16446_-43-16444delinsCAG (n.-43-16446_-43-16444delinsCAG) c.-99+34304_-99+34306delinsCAG (n.-99+34304_-99+34306delinsCAG) n.4298_4300delinsCAG n.4339_4341delinsCAG | |
17 | g.43090965_43090968del | CA915950075 | BRCA1 | c.4161_4164del (p.Gln1388ValfsTer4) c.4035_4038del (p.Gln1346ValfsTer4) c.4158_4161del (p.Gln1387ValfsTer4) c.4083_4086del (p.Gln1362ValfsTer4) c.849_852del (p.Gln284ValfsTer4) c.711_714del (p.Gln238ValfsTer4) c.3273_3276del (p.Gln1092ValfsTer4) c.4038_4041del (p.Gln1347ValfsTer4) c.4020_4023del (p.Gln1341ValfsTer4) c.729_732del (p.Gln244ValfsTer4) c.771_774del (p.Gln258ValfsTer4) c.482_485del c.735_738del (p.Gln246ValfsTer4) c.*3944_*3947del (n.*3944_*3947del) c.455_458del c.852_855del (p.Gln285ValfsTer4) c.474_477del (p.Gln159ValfsTer4) c.477_480del (p.Gln160ValfsTer4) c.5-27017_5-27014del (n.5-27017_5-27014del) c.-43-16447_-43-16444del (n.-43-16447_-43-16444del) c.-99+34303_-99+34306del (n.-99+34303_-99+34306del) n.4297_4300del n.4338_4341del | ClinVar dbSNP |
17 | g.43090970_43090983del | CA919844484 | BRCA1 | c.4151_4164del (p.Gly1384GlufsTer2) c.4025_4038del (p.Gly1342GlufsTer2) c.4148_4161del (p.Gly1383GlufsTer2) c.4073_4086del (p.Gly1358GlufsTer2) c.839_852del (p.Gly280GlufsTer2) c.701_714del (p.Gly234GlufsTer2) c.3263_3276del (p.Gly1088GlufsTer2) c.4028_4041del (p.Gly1343GlufsTer2) c.4010_4023del (p.Gly1337GlufsTer2) c.719_732del (p.Gly240GlufsTer2) c.761_774del (p.Gly254GlufsTer2) c.472_485del c.725_738del (p.Gly242GlufsTer2) c.*3934_*3947del (n.*3934_*3947del) c.445_458del c.842_855del (p.Gly281GlufsTer2) c.464_477del (p.Gly155GlufsTer2) c.467_480del (p.Gly156GlufsTer2) c.5-27027_5-27014del (n.5-27027_5-27014del) c.-43-16457_-43-16444del (n.-43-16457_-43-16444del) c.-99+34293_-99+34306del (n.-99+34293_-99+34306del) n.4287_4300del n.4328_4341del | dbSNP |
17 | g.43090966T>A | CA10593397 | BRCA1 | c.4163A>T (p.Gln1388Leu) c.4037A>T (p.Gln1346Leu) c.4160A>T (p.Gln1387Leu) c.4085A>T (p.Gln1362Leu) c.851A>T (p.Gln284Leu) c.713A>T (p.Gln238Leu) c.3275A>T (p.Gln1092Leu) c.4040A>T (p.Gln1347Leu) c.4022A>T (p.Gln1341Leu) c.731A>T (p.Gln244Leu) c.773A>T (p.Gln258Leu) c.484A>T c.737A>T (p.Gln246Leu) c.*3946A>T (n.*3946A>T) c.457A>T c.854A>T (p.Gln285Leu) c.476A>T (p.Gln159Leu) c.479A>T (p.Gln160Leu) c.5-27015A>T (n.5-27015A>T) c.-43-16445A>T (n.-43-16445A>T) c.-99+34305A>T (n.-99+34305A>T) n.4299A>T n.4340A>T | |
17 | g.43090966T>C | CA10593398 | BRCA1 | c.4163A>G (p.Gln1388Arg) c.4037A>G (p.Gln1346Arg) c.4160A>G (p.Gln1387Arg) c.4085A>G (p.Gln1362Arg) c.851A>G (p.Gln284Arg) c.713A>G (p.Gln238Arg) c.3275A>G (p.Gln1092Arg) c.4040A>G (p.Gln1347Arg) c.4022A>G (p.Gln1341Arg) c.731A>G (p.Gln244Arg) c.773A>G (p.Gln258Arg) c.484A>G c.737A>G (p.Gln246Arg) c.*3946A>G (n.*3946A>G) c.457A>G c.854A>G (p.Gln285Arg) c.476A>G (p.Gln159Arg) c.479A>G (p.Gln160Arg) c.5-27015A>G (n.5-27015A>G) c.-43-16445A>G (n.-43-16445A>G) c.-99+34305A>G (n.-99+34305A>G) n.4299A>G n.4340A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090966T>G | CA10593399 | BRCA1 | c.4163A>C (p.Gln1388Pro) c.4037A>C (p.Gln1346Pro) c.4160A>C (p.Gln1387Pro) c.4085A>C (p.Gln1362Pro) c.851A>C (p.Gln284Pro) c.713A>C (p.Gln238Pro) c.3275A>C (p.Gln1092Pro) c.4040A>C (p.Gln1347Pro) c.4022A>C (p.Gln1341Pro) c.731A>C (p.Gln244Pro) c.773A>C (p.Gln258Pro) c.484A>C c.737A>C (p.Gln246Pro) c.*3946A>C (n.*3946A>C) c.457A>C c.854A>C (p.Gln285Pro) c.476A>C (p.Gln159Pro) c.479A>C (p.Gln160Pro) c.5-27015A>C (n.5-27015A>C) c.-43-16445A>C (n.-43-16445A>C) c.-99+34305A>C (n.-99+34305A>C) n.4299A>C n.4340A>C | |
17 | g.43090966T= | CA2260781662 | BRCA1 | c.4163A= (p.Gln1388=) c.4037A= (p.Gln1346=) c.4160A= (p.Gln1387=) c.4085A= (p.Gln1362=) c.851A= (p.Gln284=) c.713A= (p.Gln238=) c.3275A= (p.Gln1092=) c.4040A= (p.Gln1347=) c.4022A= (p.Gln1341=) c.731A= (p.Gln244=) c.773A= (p.Gln258=) c.484A= c.737A= (p.Gln246=) c.*3946A= (n.*3946A=) c.457A= c.854A= (p.Gln285=) c.476A= (p.Gln159=) c.479A= (p.Gln160=) c.5-27015A= (n.5-27015A=) c.-43-16445A= (n.-43-16445A=) c.-99+34305A= (n.-99+34305A=) n.4299A= n.4340A= | |
17 | g.43090966dup | CA002662 | BRCA1 | c.4163dup (p.Ser1389GlufsTer2) c.4037dup (p.Ser1347GlufsTer2) c.4160dup (p.Ser1388GlufsTer2) c.4085dup (p.Ser1363GlufsTer2) c.851dup (p.Ser285GlufsTer2) c.713dup (p.Ser239GlufsTer2) c.3275dup (p.Ser1093GlufsTer2) c.4040dup (p.Ser1348GlufsTer2) c.4022dup (p.Ser1342GlufsTer2) c.731dup (p.Ser245GlufsTer2) c.773dup (p.Ser259GlufsTer2) c.484dup c.737dup (p.Ser247GlufsTer2) c.*3946dup (n.*3946dup) c.457dup c.854dup (p.Ser286GlufsTer2) c.476dup (p.Ser160GlufsTer2) c.479dup (p.Ser161GlufsTer2) c.5-27015dup (n.5-27015dup) c.-43-16445dup (n.-43-16445dup) c.-99+34305dup (n.-99+34305dup) n.4299dup n.4340dup | ClinVar dbSNP |
17 | g.43090966_43090967del | CA10589684 | BRCA1 | c.4162_4163del (p.Gln1388GlufsTer2) c.4036_4037del (p.Gln1346GlufsTer2) c.4159_4160del (p.Gln1387GlufsTer2) c.4084_4085del (p.Gln1362GlufsTer2) c.850_851del (p.Gln284GlufsTer2) c.712_713del (p.Gln238GlufsTer2) c.3274_3275del (p.Gln1092GlufsTer2) c.4039_4040del (p.Gln1347GlufsTer2) c.4021_4022del (p.Gln1341GlufsTer2) c.730_731del (p.Gln244GlufsTer2) c.772_773del (p.Gln258GlufsTer2) c.483_484del c.736_737del (p.Gln246GlufsTer2) c.*3945_*3946del (n.*3945_*3946del) c.456_457del c.853_854del (p.Gln285GlufsTer2) c.475_476del (p.Gln159GlufsTer2) c.478_479del (p.Gln160GlufsTer2) c.5-27016_5-27015del (n.5-27016_5-27015del) c.-43-16446_-43-16445del (n.-43-16446_-43-16445del) c.-99+34304_-99+34305del (n.-99+34304_-99+34305del) n.4298_4299del n.4339_4340del | ClinVar dbSNP |
17 | g.43090966_43090967delinsTG | CA2260781661 | BRCA1 | c.4162_4163delinsCA (p.Gln1388=) c.4036_4037delinsCA (p.Gln1346=) c.4159_4160delinsCA (p.Gln1387=) c.4084_4085delinsCA (p.Gln1362=) c.850_851delinsCA (p.Gln284=) c.712_713delinsCA (p.Gln238=) c.3274_3275delinsCA (p.Gln1092=) c.4039_4040delinsCA (p.Gln1347=) c.4021_4022delinsCA (p.Gln1341=) c.730_731delinsCA (p.Gln244=) c.772_773delinsCA (p.Gln258=) c.483_484delinsCA c.736_737delinsCA (p.Gln246=) c.*3945_*3946delinsCA (n.*3945_*3946delinsCA) c.456_457delinsCA c.853_854delinsCA (p.Gln285=) c.475_476delinsCA (p.Gln159=) c.478_479delinsCA (p.Gln160=) c.5-27016_5-27015delinsCA (n.5-27016_5-27015delinsCA) c.-43-16446_-43-16445delinsCA (n.-43-16446_-43-16445delinsCA) c.-99+34304_-99+34305delinsCA (n.-99+34304_-99+34305delinsCA) n.4298_4299delinsCA n.4339_4340delinsCA | |
17 | g.43090966_43090968delinsTGA | CA2260781664 | BRCA1 | c.4161_4163delinsTCA (p.Ser1387=) c.4035_4037delinsTCA (p.Ser1345=) c.4158_4160delinsTCA (p.Ser1386=) c.4083_4085delinsTCA (p.Ser1361=) c.849_851delinsTCA (p.Ser283=) c.711_713delinsTCA (p.Ser237=) c.3273_3275delinsTCA (p.Ser1091=) c.4038_4040delinsTCA (p.Ser1346=) c.4020_4022delinsTCA (p.Ser1340=) c.729_731delinsTCA (p.Ser243=) c.771_773delinsTCA (p.Ser257=) c.482_484delinsTCA c.735_737delinsTCA (p.Ser245=) c.*3944_*3946delinsTCA (n.*3944_*3946delinsTCA) c.455_457delinsTCA c.852_854delinsTCA (p.Ser284=) c.474_476delinsTCA (p.Ser158=) c.477_479delinsTCA (p.Ser159=) c.5-27017_5-27015delinsTCA (n.5-27017_5-27015delinsTCA) c.-43-16447_-43-16445delinsTCA (n.-43-16447_-43-16445delinsTCA) c.-99+34303_-99+34305delinsTCA (n.-99+34303_-99+34305delinsTCA) n.4297_4299delinsTCA n.4338_4340delinsTCA | |
17 | g.43090966_43090971delinsTGAGAG | CA2260781663 | BRCA1 | c.4158_4163delinsCTCTCA (p.Ser1386=) c.4032_4037delinsCTCTCA (p.Ser1344=) c.4155_4160delinsCTCTCA (p.Ser1385=) c.4080_4085delinsCTCTCA (p.Ser1360=) c.846_851delinsCTCTCA (p.Ser282=) c.708_713delinsCTCTCA (p.Ser236=) c.3270_3275delinsCTCTCA (p.Ser1090=) c.4035_4040delinsCTCTCA (p.Ser1345=) c.4017_4022delinsCTCTCA (p.Ser1339=) c.726_731delinsCTCTCA (p.Ser242=) c.768_773delinsCTCTCA (p.Ser256=) c.479_484delinsCTCTCA c.732_737delinsCTCTCA (p.Ser244=) c.*3941_*3946delinsCTCTCA (n.*3941_*3946delinsCTCTCA) c.452_457delinsCTCTCA c.849_854delinsCTCTCA (p.Ser283=) c.471_476delinsCTCTCA (p.Ser157=) c.474_479delinsCTCTCA (p.Ser158=) c.5-27020_5-27015delinsCTCTCA (n.5-27020_5-27015delinsCTCTCA) c.-43-16450_-43-16445delinsCTCTCA (n.-43-16450_-43-16445delinsCTCTCA) c.-99+34300_-99+34305delinsCTCTCA (n.-99+34300_-99+34305delinsCTCTCA) n.4294_4299delinsCTCTCA n.4335_4340delinsCTCTCA | |
17 | g.43090967del | CA919844485 | BRCA1 | c.4162del (p.Gln1388ArgfsTer5) c.4036del (p.Gln1346ArgfsTer5) c.4159del (p.Gln1387ArgfsTer5) c.4084del (p.Gln1362ArgfsTer5) c.850del (p.Gln284ArgfsTer5) c.712del (p.Gln238ArgfsTer5) c.3274del (p.Gln1092ArgfsTer5) c.4039del (p.Gln1347ArgfsTer5) c.4021del (p.Gln1341ArgfsTer5) c.730del (p.Gln244ArgfsTer5) c.772del (p.Gln258ArgfsTer5) c.483del c.736del (p.Gln246ArgfsTer5) c.*3945del (n.*3945del) c.456del c.853del (p.Gln285ArgfsTer5) c.475del (p.Gln159ArgfsTer5) c.478del (p.Gln160ArgfsTer5) c.5-27016del (n.5-27016del) c.-43-16446del (n.-43-16446del) c.-99+34304del (n.-99+34304del) n.4298del n.4339del | dbSNP |
17 | g.43090967G>A | CA10580534 | BRCA1 | c.4162C>T (p.Gln1388Ter) c.4036C>T (p.Gln1346Ter) c.4159C>T (p.Gln1387Ter) c.4084C>T (p.Gln1362Ter) c.850C>T (p.Gln284Ter) c.712C>T (p.Gln238Ter) c.3274C>T (p.Gln1092Ter) c.4039C>T (p.Gln1347Ter) c.4021C>T (p.Gln1341Ter) c.730C>T (p.Gln244Ter) c.772C>T (p.Gln258Ter) c.483C>T c.736C>T (p.Gln246Ter) c.*3945C>T (n.*3945C>T) c.456C>T c.853C>T (p.Gln285Ter) c.475C>T (p.Gln159Ter) c.478C>T (p.Gln160Ter) c.5-27016C>T (n.5-27016C>T) c.-43-16446C>T (n.-43-16446C>T) c.-99+34304C>T (n.-99+34304C>T) n.4298C>T n.4339C>T | ClinVar dbSNP |
17 | g.43090967G>C | CA10593400 | BRCA1 | c.4162C>G (p.Gln1388Glu) c.4036C>G (p.Gln1346Glu) c.4159C>G (p.Gln1387Glu) c.4084C>G (p.Gln1362Glu) c.850C>G (p.Gln284Glu) c.712C>G (p.Gln238Glu) c.3274C>G (p.Gln1092Glu) c.4039C>G (p.Gln1347Glu) c.4021C>G (p.Gln1341Glu) c.730C>G (p.Gln244Glu) c.772C>G (p.Gln258Glu) c.483C>G c.736C>G (p.Gln246Glu) c.*3945C>G (n.*3945C>G) c.456C>G c.853C>G (p.Gln285Glu) c.475C>G (p.Gln159Glu) c.478C>G (p.Gln160Glu) c.5-27016C>G (n.5-27016C>G) c.-43-16446C>G (n.-43-16446C>G) c.-99+34304C>G (n.-99+34304C>G) n.4298C>G n.4339C>G | dbSNP COSMIC COSMIC |
17 | g.43090967G= | CA2260781665 | BRCA1 | c.4162C= (p.Gln1388=) c.4036C= (p.Gln1346=) c.4159C= (p.Gln1387=) c.4084C= (p.Gln1362=) c.850C= (p.Gln284=) c.712C= (p.Gln238=) c.3274C= (p.Gln1092=) c.4039C= (p.Gln1347=) c.4021C= (p.Gln1341=) c.730C= (p.Gln244=) c.772C= (p.Gln258=) c.483C= c.736C= (p.Gln246=) c.*3945C= (n.*3945C=) c.456C= c.853C= (p.Gln285=) c.475C= (p.Gln159=) c.478C= (p.Gln160=) c.5-27016C= (n.5-27016C=) c.-43-16446C= (n.-43-16446C=) c.-99+34304C= (n.-99+34304C=) n.4298C= n.4339C= | |
17 | g.43090967G>T | CA10593401 | BRCA1 | c.4162C>A (p.Gln1388Lys) c.4036C>A (p.Gln1346Lys) c.4159C>A (p.Gln1387Lys) c.4084C>A (p.Gln1362Lys) c.850C>A (p.Gln284Lys) c.712C>A (p.Gln238Lys) c.3274C>A (p.Gln1092Lys) c.4039C>A (p.Gln1347Lys) c.4021C>A (p.Gln1341Lys) c.730C>A (p.Gln244Lys) c.772C>A (p.Gln258Lys) c.483C>A c.736C>A (p.Gln246Lys) c.*3945C>A (n.*3945C>A) c.456C>A c.853C>A (p.Gln285Lys) c.475C>A (p.Gln159Lys) c.478C>A (p.Gln160Lys) c.5-27016C>A (n.5-27016C>A) c.-43-16446C>A (n.-43-16446C>A) c.-99+34304C>A (n.-99+34304C>A) n.4298C>A n.4339C>A | ClinVar dbSNP |
17 | g.43090970_43090971dup | CA915950076 | BRCA1 | c.4161_4162dup (p.Gln1388LeufsTer6) c.4035_4036dup (p.Gln1346LeufsTer6) c.4158_4159dup (p.Gln1387LeufsTer6) c.4083_4084dup (p.Gln1362LeufsTer6) c.849_850dup (p.Gln284LeufsTer6) c.711_712dup (p.Gln238LeufsTer6) c.3273_3274dup (p.Gln1092LeufsTer6) c.4038_4039dup (p.Gln1347LeufsTer6) c.4020_4021dup (p.Gln1341LeufsTer6) c.729_730dup (p.Gln244LeufsTer6) c.771_772dup (p.Gln258LeufsTer6) c.482_483dup c.735_736dup (p.Gln246LeufsTer6) c.*3944_*3945dup (n.*3944_*3945dup) c.455_456dup c.852_853dup (p.Gln285LeufsTer6) c.474_475dup (p.Gln159LeufsTer6) c.477_478dup (p.Gln160LeufsTer6) c.5-27017_5-27016dup (n.5-27017_5-27016dup) c.-43-16447_-43-16446dup (n.-43-16447_-43-16446dup) c.-99+34303_-99+34304dup (n.-99+34303_-99+34304dup) n.4297_4298dup n.4338_4339dup | ClinVar dbSNP |
17 | g.43090970_43090971del | CA002661 | BRCA1 | c.4161_4162del (p.Gln1388GlufsTer2) c.4035_4036del (p.Gln1346GlufsTer2) c.4158_4159del (p.Gln1387GlufsTer2) c.4083_4084del (p.Gln1362GlufsTer2) c.849_850del (p.Gln284GlufsTer2) c.711_712del (p.Gln238GlufsTer2) c.3273_3274del (p.Gln1092GlufsTer2) c.4038_4039del (p.Gln1347GlufsTer2) c.4020_4021del (p.Gln1341GlufsTer2) c.729_730del (p.Gln244GlufsTer2) c.771_772del (p.Gln258GlufsTer2) c.482_483del c.735_736del (p.Gln246GlufsTer2) c.*3944_*3945del (n.*3944_*3945del) c.455_456del c.852_853del (p.Gln285GlufsTer2) c.474_475del (p.Gln159GlufsTer2) c.477_478del (p.Gln160GlufsTer2) c.5-27017_5-27016del (n.5-27017_5-27016del) c.-43-16447_-43-16446del (n.-43-16447_-43-16446del) c.-99+34303_-99+34304del (n.-99+34303_-99+34304del) n.4297_4298del n.4338_4339del | ClinVar dbSNP |
17 | g.43090969_43090973del | CA002659 | BRCA1 | c.4158_4162del (p.Ser1387GlufsTer2) c.4032_4036del (p.Ser1345GlufsTer2) c.4155_4159del (p.Ser1386GlufsTer2) c.4080_4084del (p.Ser1361GlufsTer2) c.846_850del (p.Ser283GlufsTer2) c.708_712del (p.Ser237GlufsTer2) c.3270_3274del (p.Ser1091GlufsTer2) c.4035_4039del (p.Ser1346GlufsTer2) c.4017_4021del (p.Ser1340GlufsTer2) c.726_730del (p.Ser243GlufsTer2) c.768_772del (p.Ser257GlufsTer2) c.479_483del c.732_736del (p.Ser245GlufsTer2) c.*3941_*3945del (n.*3941_*3945del) c.452_456del c.849_853del (p.Ser284GlufsTer2) c.471_475del (p.Ser158GlufsTer2) c.474_478del (p.Ser159GlufsTer2) c.5-27020_5-27016del (n.5-27020_5-27016del) c.-43-16450_-43-16446del (n.-43-16450_-43-16446del) c.-99+34300_-99+34304del (n.-99+34300_-99+34304del) n.4294_4298del n.4335_4339del | ClinVar dbSNP |
17 | g.43090968A= | CA2260781666 | BRCA1 | c.4161T= (p.Ser1387=) c.4035T= (p.Ser1345=) c.4158T= (p.Ser1386=) c.4083T= (p.Ser1361=) c.849T= (p.Ser283=) c.711T= (p.Ser237=) c.3273T= (p.Ser1091=) c.4038T= (p.Ser1346=) c.4020T= (p.Ser1340=) c.729T= (p.Ser243=) c.771T= (p.Ser257=) c.482T= c.735T= (p.Ser245=) c.*3944T= (n.*3944T=) c.455T= c.852T= (p.Ser284=) c.474T= (p.Ser158=) c.477T= (p.Ser159=) c.5-27017T= (n.5-27017T=) c.-43-16447T= (n.-43-16447T=) c.-99+34303T= (n.-99+34303T=) n.4297T= n.4338T= | |
17 | g.43090968A>C | CA500122937 | BRCA1 | c.4161T>G (p.Ser1387=) c.4035T>G (p.Ser1345=) c.4158T>G (p.Ser1386=) c.4083T>G (p.Ser1361=) c.849T>G (p.Ser283=) c.711T>G (p.Ser237=) c.3273T>G (p.Ser1091=) c.4038T>G (p.Ser1346=) c.4020T>G (p.Ser1340=) c.729T>G (p.Ser243=) c.771T>G (p.Ser257=) c.482T>G c.735T>G (p.Ser245=) c.*3944T>G (n.*3944T>G) c.455T>G c.852T>G (p.Ser284=) c.474T>G (p.Ser158=) c.477T>G (p.Ser159=) c.5-27017T>G (n.5-27017T>G) c.-43-16447T>G (n.-43-16447T>G) c.-99+34303T>G (n.-99+34303T>G) n.4297T>G n.4338T>G | |
17 | g.43090968A>G | CA500122939 | BRCA1 | c.4161T>C (p.Ser1387=) c.4035T>C (p.Ser1345=) c.4158T>C (p.Ser1386=) c.4083T>C (p.Ser1361=) c.849T>C (p.Ser283=) c.711T>C (p.Ser237=) c.3273T>C (p.Ser1091=) c.4038T>C (p.Ser1346=) c.4020T>C (p.Ser1340=) c.729T>C (p.Ser243=) c.771T>C (p.Ser257=) c.482T>C c.735T>C (p.Ser245=) c.*3944T>C (n.*3944T>C) c.455T>C c.852T>C (p.Ser284=) c.474T>C (p.Ser158=) c.477T>C (p.Ser159=) c.5-27017T>C (n.5-27017T>C) c.-43-16447T>C (n.-43-16447T>C) c.-99+34303T>C (n.-99+34303T>C) n.4297T>C n.4338T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43090968A>T | CA500122940 | BRCA1 | c.4161T>A (p.Ser1387=) c.4035T>A (p.Ser1345=) c.4158T>A (p.Ser1386=) c.4083T>A (p.Ser1361=) c.849T>A (p.Ser283=) c.711T>A (p.Ser237=) c.3273T>A (p.Ser1091=) c.4038T>A (p.Ser1346=) c.4020T>A (p.Ser1340=) c.729T>A (p.Ser243=) c.771T>A (p.Ser257=) c.482T>A c.735T>A (p.Ser245=) c.*3944T>A (n.*3944T>A) c.455T>A c.852T>A (p.Ser284=) c.474T>A (p.Ser158=) c.477T>A (p.Ser159=) c.5-27017T>A (n.5-27017T>A) c.-43-16447T>A (n.-43-16447T>A) c.-99+34303T>A (n.-99+34303T>A) n.4297T>A n.4338T>A | dbSNP |
17 | g.43090969G>A | CA10593402 | BRCA1 | c.4160C>T (p.Ser1387Phe) c.4034C>T (p.Ser1345Phe) c.4157C>T (p.Ser1386Phe) c.4082C>T (p.Ser1361Phe) c.848C>T (p.Ser283Phe) c.710C>T (p.Ser237Phe) c.3272C>T (p.Ser1091Phe) c.4037C>T (p.Ser1346Phe) c.4019C>T (p.Ser1340Phe) c.728C>T (p.Ser243Phe) c.770C>T (p.Ser257Phe) c.481C>T c.734C>T (p.Ser245Phe) c.*3943C>T (n.*3943C>T) c.454C>T c.851C>T (p.Ser284Phe) c.473C>T (p.Ser158Phe) c.476C>T (p.Ser159Phe) c.5-27018C>T (n.5-27018C>T) c.-43-16448C>T (n.-43-16448C>T) c.-99+34302C>T (n.-99+34302C>T) n.4296C>T n.4337C>T | dbSNP |
17 | g.43090969G>C | CA10593403 | BRCA1 | c.4160C>G (p.Ser1387Cys) c.4034C>G (p.Ser1345Cys) c.4157C>G (p.Ser1386Cys) c.4082C>G (p.Ser1361Cys) c.848C>G (p.Ser283Cys) c.710C>G (p.Ser237Cys) c.3272C>G (p.Ser1091Cys) c.4037C>G (p.Ser1346Cys) c.4019C>G (p.Ser1340Cys) c.728C>G (p.Ser243Cys) c.770C>G (p.Ser257Cys) c.481C>G c.734C>G (p.Ser245Cys) c.*3943C>G (n.*3943C>G) c.454C>G c.851C>G (p.Ser284Cys) c.473C>G (p.Ser158Cys) c.476C>G (p.Ser159Cys) c.5-27018C>G (n.5-27018C>G) c.-43-16448C>G (n.-43-16448C>G) c.-99+34302C>G (n.-99+34302C>G) n.4296C>G n.4337C>G | ClinVar dbSNP |
17 | g.43090969G>T | CA10593404 | BRCA1 | c.4160C>A (p.Ser1387Tyr) c.4034C>A (p.Ser1345Tyr) c.4157C>A (p.Ser1386Tyr) c.4082C>A (p.Ser1361Tyr) c.848C>A (p.Ser283Tyr) c.710C>A (p.Ser237Tyr) c.3272C>A (p.Ser1091Tyr) c.4037C>A (p.Ser1346Tyr) c.4019C>A (p.Ser1340Tyr) c.728C>A (p.Ser243Tyr) c.770C>A (p.Ser257Tyr) c.481C>A c.734C>A (p.Ser245Tyr) c.*3943C>A (n.*3943C>A) c.454C>A c.851C>A (p.Ser284Tyr) c.473C>A (p.Ser158Tyr) c.476C>A (p.Ser159Tyr) c.5-27018C>A (n.5-27018C>A) c.-43-16448C>A (n.-43-16448C>A) c.-99+34302C>A (n.-99+34302C>A) n.4296C>A n.4337C>A | dbSNP |
17 | g.43090970A= | CA2260781667 | BRCA1 | c.4159T= (p.Ser1387=) c.4033T= (p.Ser1345=) c.4156T= (p.Ser1386=) c.4081T= (p.Ser1361=) c.847T= (p.Ser283=) c.709T= (p.Ser237=) c.3271T= (p.Ser1091=) c.4036T= (p.Ser1346=) c.4018T= (p.Ser1340=) c.727T= (p.Ser243=) c.769T= (p.Ser257=) c.480T= c.733T= (p.Ser245=) c.*3942T= (n.*3942T=) c.453T= c.850T= (p.Ser284=) c.472T= (p.Ser158=) c.475T= (p.Ser159=) c.5-27019T= (n.5-27019T=) c.-43-16449T= (n.-43-16449T=) c.-99+34301T= (n.-99+34301T=) n.4295T= n.4336T= | |
17 | g.43090970A>C | CA10593405 | BRCA1 | c.4159T>G (p.Ser1387Ala) c.4033T>G (p.Ser1345Ala) c.4156T>G (p.Ser1386Ala) c.4081T>G (p.Ser1361Ala) c.847T>G (p.Ser283Ala) c.709T>G (p.Ser237Ala) c.3271T>G (p.Ser1091Ala) c.4036T>G (p.Ser1346Ala) c.4018T>G (p.Ser1340Ala) c.727T>G (p.Ser243Ala) c.769T>G (p.Ser257Ala) c.480T>G c.733T>G (p.Ser245Ala) c.*3942T>G (n.*3942T>G) c.453T>G c.850T>G (p.Ser284Ala) c.472T>G (p.Ser158Ala) c.475T>G (p.Ser159Ala) c.5-27019T>G (n.5-27019T>G) c.-43-16449T>G (n.-43-16449T>G) c.-99+34301T>G (n.-99+34301T>G) n.4295T>G n.4336T>G | |
17 | g.43090970A>G | CA10575944 | BRCA1 | c.4159T>C (p.Ser1387Pro) c.4033T>C (p.Ser1345Pro) c.4156T>C (p.Ser1386Pro) c.4081T>C (p.Ser1361Pro) c.847T>C (p.Ser283Pro) c.709T>C (p.Ser237Pro) c.3271T>C (p.Ser1091Pro) c.4036T>C (p.Ser1346Pro) c.4018T>C (p.Ser1340Pro) c.727T>C (p.Ser243Pro) c.769T>C (p.Ser257Pro) c.480T>C c.733T>C (p.Ser245Pro) c.*3942T>C (n.*3942T>C) c.453T>C c.850T>C (p.Ser284Pro) c.472T>C (p.Ser158Pro) c.475T>C (p.Ser159Pro) c.5-27019T>C (n.5-27019T>C) c.-43-16449T>C (n.-43-16449T>C) c.-99+34301T>C (n.-99+34301T>C) n.4295T>C n.4336T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090970A>T | CA10593406 | BRCA1 | c.4159T>A (p.Ser1387Thr) c.4033T>A (p.Ser1345Thr) c.4156T>A (p.Ser1386Thr) c.4081T>A (p.Ser1361Thr) c.847T>A (p.Ser283Thr) c.709T>A (p.Ser237Thr) c.3271T>A (p.Ser1091Thr) c.4036T>A (p.Ser1346Thr) c.4018T>A (p.Ser1340Thr) c.727T>A (p.Ser243Thr) c.769T>A (p.Ser257Thr) c.480T>A c.733T>A (p.Ser245Thr) c.*3942T>A (n.*3942T>A) c.453T>A c.850T>A (p.Ser284Thr) c.472T>A (p.Ser158Thr) c.475T>A (p.Ser159Thr) c.5-27019T>A (n.5-27019T>A) c.-43-16449T>A (n.-43-16449T>A) c.-99+34301T>A (n.-99+34301T>A) n.4295T>A n.4336T>A | dbSNP |
17 | g.43090971G>A | CA500122946 | BRCA1 | c.4158C>T (p.Ser1386=) c.4032C>T (p.Ser1344=) c.4155C>T (p.Ser1385=) c.4080C>T (p.Ser1360=) c.846C>T (p.Ser282=) c.708C>T (p.Ser236=) c.3270C>T (p.Ser1090=) c.4035C>T (p.Ser1345=) c.4017C>T (p.Ser1339=) c.726C>T (p.Ser242=) c.768C>T (p.Ser256=) c.479C>T c.732C>T (p.Ser244=) c.*3941C>T (n.*3941C>T) c.452C>T c.849C>T (p.Ser283=) c.471C>T (p.Ser157=) c.474C>T (p.Ser158=) c.5-27020C>T (n.5-27020C>T) c.-43-16450C>T (n.-43-16450C>T) c.-99+34300C>T (n.-99+34300C>T) n.4294C>T n.4335C>T | ClinVar dbSNP |
17 | g.43090971G>C | CA500122948 | BRCA1 | c.4158C>G (p.Ser1386=) c.4032C>G (p.Ser1344=) c.4155C>G (p.Ser1385=) c.4080C>G (p.Ser1360=) c.846C>G (p.Ser282=) c.708C>G (p.Ser236=) c.3270C>G (p.Ser1090=) c.4035C>G (p.Ser1345=) c.4017C>G (p.Ser1339=) c.726C>G (p.Ser242=) c.768C>G (p.Ser256=) c.479C>G c.732C>G (p.Ser244=) c.*3941C>G (n.*3941C>G) c.452C>G c.849C>G (p.Ser283=) c.471C>G (p.Ser157=) c.474C>G (p.Ser158=) c.5-27020C>G (n.5-27020C>G) c.-43-16450C>G (n.-43-16450C>G) c.-99+34300C>G (n.-99+34300C>G) n.4294C>G n.4335C>G | dbSNP |
17 | g.43090971G= | CA2260781668 | BRCA1 | c.4158C= (p.Ser1386=) c.4032C= (p.Ser1344=) c.4155C= (p.Ser1385=) c.4080C= (p.Ser1360=) c.846C= (p.Ser282=) c.708C= (p.Ser236=) c.3270C= (p.Ser1090=) c.4035C= (p.Ser1345=) c.4017C= (p.Ser1339=) c.726C= (p.Ser242=) c.768C= (p.Ser256=) c.479C= c.732C= (p.Ser244=) c.*3941C= (n.*3941C=) c.452C= c.849C= (p.Ser283=) c.471C= (p.Ser157=) c.474C= (p.Ser158=) c.5-27020C= (n.5-27020C=) c.-43-16450C= (n.-43-16450C=) c.-99+34300C= (n.-99+34300C=) n.4294C= n.4335C= | |
17 | g.43090971G>T | CA500122950 | BRCA1 | c.4158C>A (p.Ser1386=) c.4032C>A (p.Ser1344=) c.4155C>A (p.Ser1385=) c.4080C>A (p.Ser1360=) c.846C>A (p.Ser282=) c.708C>A (p.Ser236=) c.3270C>A (p.Ser1090=) c.4035C>A (p.Ser1345=) c.4017C>A (p.Ser1339=) c.726C>A (p.Ser242=) c.768C>A (p.Ser256=) c.479C>A c.732C>A (p.Ser244=) c.*3941C>A (n.*3941C>A) c.452C>A c.849C>A (p.Ser283=) c.471C>A (p.Ser157=) c.474C>A (p.Ser158=) c.5-27020C>A (n.5-27020C>A) c.-43-16450C>A (n.-43-16450C>A) c.-99+34300C>A (n.-99+34300C>A) n.4294C>A n.4335C>A | dbSNP |
17 | g.43090972G>A | CA10593407 | BRCA1 | c.4157C>T (p.Ser1386Phe) c.4031C>T (p.Ser1344Phe) c.4154C>T (p.Ser1385Phe) c.4079C>T (p.Ser1360Phe) c.845C>T (p.Ser282Phe) c.707C>T (p.Ser236Phe) c.3269C>T (p.Ser1090Phe) c.4034C>T (p.Ser1345Phe) c.4016C>T (p.Ser1339Phe) c.725C>T (p.Ser242Phe) c.767C>T (p.Ser256Phe) c.478C>T c.731C>T (p.Ser244Phe) c.*3940C>T (n.*3940C>T) c.451C>T c.848C>T (p.Ser283Phe) c.470C>T (p.Ser157Phe) c.473C>T (p.Ser158Phe) c.5-27021C>T (n.5-27021C>T) c.-43-16451C>T (n.-43-16451C>T) c.-99+34299C>T (n.-99+34299C>T) n.4293C>T n.4334C>T | dbSNP |
17 | g.43090972G>C | CA10593408 | BRCA1 | c.4157C>G (p.Ser1386Cys) c.4031C>G (p.Ser1344Cys) c.4154C>G (p.Ser1385Cys) c.4079C>G (p.Ser1360Cys) c.845C>G (p.Ser282Cys) c.707C>G (p.Ser236Cys) c.3269C>G (p.Ser1090Cys) c.4034C>G (p.Ser1345Cys) c.4016C>G (p.Ser1339Cys) c.725C>G (p.Ser242Cys) c.767C>G (p.Ser256Cys) c.478C>G c.731C>G (p.Ser244Cys) c.*3940C>G (n.*3940C>G) c.451C>G c.848C>G (p.Ser283Cys) c.470C>G (p.Ser157Cys) c.473C>G (p.Ser158Cys) c.5-27021C>G (n.5-27021C>G) c.-43-16451C>G (n.-43-16451C>G) c.-99+34299C>G (n.-99+34299C>G) n.4293C>G n.4334C>G | dbSNP |
17 | g.43090972G>T | CA10593409 | BRCA1 | c.4157C>A (p.Ser1386Tyr) c.4031C>A (p.Ser1344Tyr) c.4154C>A (p.Ser1385Tyr) c.4079C>A (p.Ser1360Tyr) c.845C>A (p.Ser282Tyr) c.707C>A (p.Ser236Tyr) c.3269C>A (p.Ser1090Tyr) c.4034C>A (p.Ser1345Tyr) c.4016C>A (p.Ser1339Tyr) c.725C>A (p.Ser242Tyr) c.767C>A (p.Ser256Tyr) c.478C>A c.731C>A (p.Ser244Tyr) c.*3940C>A (n.*3940C>A) c.451C>A c.848C>A (p.Ser283Tyr) c.470C>A (p.Ser157Tyr) c.473C>A (p.Ser158Tyr) c.5-27021C>A (n.5-27021C>A) c.-43-16451C>A (n.-43-16451C>A) c.-99+34299C>A (n.-99+34299C>A) n.4293C>A n.4334C>A | dbSNP |
17 | g.43090973A= | CA2260781669 | BRCA1 | c.4156T= (p.Ser1386=) c.4030T= (p.Ser1344=) c.4153T= (p.Ser1385=) c.4078T= (p.Ser1360=) c.844T= (p.Ser282=) c.706T= (p.Ser236=) c.3268T= (p.Ser1090=) c.4033T= (p.Ser1345=) c.4015T= (p.Ser1339=) c.724T= (p.Ser242=) c.766T= (p.Ser256=) c.477T= c.730T= (p.Ser244=) c.*3939T= (n.*3939T=) c.450T= c.847T= (p.Ser283=) c.469T= (p.Ser157=) c.472T= (p.Ser158=) c.5-27022T= (n.5-27022T=) c.-43-16452T= (n.-43-16452T=) c.-99+34298T= (n.-99+34298T=) n.4292T= n.4333T= | |
17 | g.43090973A>C | CA10593410 | BRCA1 | c.4156T>G (p.Ser1386Ala) c.4030T>G (p.Ser1344Ala) c.4153T>G (p.Ser1385Ala) c.4078T>G (p.Ser1360Ala) c.844T>G (p.Ser282Ala) c.706T>G (p.Ser236Ala) c.3268T>G (p.Ser1090Ala) c.4033T>G (p.Ser1345Ala) c.4015T>G (p.Ser1339Ala) c.724T>G (p.Ser242Ala) c.766T>G (p.Ser256Ala) c.477T>G c.730T>G (p.Ser244Ala) c.*3939T>G (n.*3939T>G) c.450T>G c.847T>G (p.Ser283Ala) c.469T>G (p.Ser157Ala) c.472T>G (p.Ser158Ala) c.5-27022T>G (n.5-27022T>G) c.-43-16452T>G (n.-43-16452T>G) c.-99+34298T>G (n.-99+34298T>G) n.4292T>G n.4333T>G | dbSNP |
17 | g.43090973A>G | CA10593411 | BRCA1 | c.4156T>C (p.Ser1386Pro) c.4030T>C (p.Ser1344Pro) c.4153T>C (p.Ser1385Pro) c.4078T>C (p.Ser1360Pro) c.844T>C (p.Ser282Pro) c.706T>C (p.Ser236Pro) c.3268T>C (p.Ser1090Pro) c.4033T>C (p.Ser1345Pro) c.4015T>C (p.Ser1339Pro) c.724T>C (p.Ser242Pro) c.766T>C (p.Ser256Pro) c.477T>C c.730T>C (p.Ser244Pro) c.*3939T>C (n.*3939T>C) c.450T>C c.847T>C (p.Ser283Pro) c.469T>C (p.Ser157Pro) c.472T>C (p.Ser158Pro) c.5-27022T>C (n.5-27022T>C) c.-43-16452T>C (n.-43-16452T>C) c.-99+34298T>C (n.-99+34298T>C) n.4292T>C n.4333T>C | |
17 | g.43090973A>T | CA10593412 | BRCA1 | c.4156T>A (p.Ser1386Thr) c.4030T>A (p.Ser1344Thr) c.4153T>A (p.Ser1385Thr) c.4078T>A (p.Ser1360Thr) c.844T>A (p.Ser282Thr) c.706T>A (p.Ser236Thr) c.3268T>A (p.Ser1090Thr) c.4033T>A (p.Ser1345Thr) c.4015T>A (p.Ser1339Thr) c.724T>A (p.Ser242Thr) c.766T>A (p.Ser256Thr) c.477T>A c.730T>A (p.Ser244Thr) c.*3939T>A (n.*3939T>A) c.450T>A c.847T>A (p.Ser283Thr) c.469T>A (p.Ser157Thr) c.472T>A (p.Ser158Thr) c.5-27022T>A (n.5-27022T>A) c.-43-16452T>A (n.-43-16452T>A) c.-99+34298T>A (n.-99+34298T>A) n.4292T>A n.4333T>A | dbSNP |
17 | g.43090974T>A | CA500122965 | BRCA1 | c.4155A>T (p.Leu1385=) c.4029A>T (p.Leu1343=) c.4152A>T (p.Leu1384=) c.4077A>T (p.Leu1359=) c.843A>T (p.Leu281=) c.705A>T (p.Leu235=) c.3267A>T (p.Leu1089=) c.4032A>T (p.Leu1344=) c.4014A>T (p.Leu1338=) c.723A>T (p.Leu241=) c.765A>T (p.Leu255=) c.476A>T c.729A>T (p.Leu243=) c.*3938A>T (n.*3938A>T) c.449A>T c.846A>T (p.Leu282=) c.468A>T (p.Leu156=) c.471A>T (p.Leu157=) c.5-27023A>T (n.5-27023A>T) c.-43-16453A>T (n.-43-16453A>T) c.-99+34297A>T (n.-99+34297A>T) n.4291A>T n.4332A>T | dbSNP |
17 | g.43090974T>C | CA16607261 | BRCA1 | c.4155A>G (p.Leu1385=) c.4029A>G (p.Leu1343=) c.4152A>G (p.Leu1384=) c.4077A>G (p.Leu1359=) c.843A>G (p.Leu281=) c.705A>G (p.Leu235=) c.3267A>G (p.Leu1089=) c.4032A>G (p.Leu1344=) c.4014A>G (p.Leu1338=) c.723A>G (p.Leu241=) c.765A>G (p.Leu255=) c.476A>G c.729A>G (p.Leu243=) c.*3938A>G (n.*3938A>G) c.449A>G c.846A>G (p.Leu282=) c.468A>G (p.Leu156=) c.471A>G (p.Leu157=) c.5-27023A>G (n.5-27023A>G) c.-43-16453A>G (n.-43-16453A>G) c.-99+34297A>G (n.-99+34297A>G) n.4291A>G n.4332A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
17 | g.43090974T>G | CA500122962 | BRCA1 | c.4155A>C (p.Leu1385=) c.4029A>C (p.Leu1343=) c.4152A>C (p.Leu1384=) c.4077A>C (p.Leu1359=) c.843A>C (p.Leu281=) c.705A>C (p.Leu235=) c.3267A>C (p.Leu1089=) c.4032A>C (p.Leu1344=) c.4014A>C (p.Leu1338=) c.723A>C (p.Leu241=) c.765A>C (p.Leu255=) c.476A>C c.729A>C (p.Leu243=) c.*3938A>C (n.*3938A>C) c.449A>C c.846A>C (p.Leu282=) c.468A>C (p.Leu156=) c.471A>C (p.Leu157=) c.5-27023A>C (n.5-27023A>C) c.-43-16453A>C (n.-43-16453A>C) c.-99+34297A>C (n.-99+34297A>C) n.4291A>C n.4332A>C | dbSNP gnomAD v4 |
17 | g.43090974T= | CA2260781670 | BRCA1 | c.4155A= (p.Leu1385=) c.4029A= (p.Leu1343=) c.4152A= (p.Leu1384=) c.4077A= (p.Leu1359=) c.843A= (p.Leu281=) c.705A= (p.Leu235=) c.3267A= (p.Leu1089=) c.4032A= (p.Leu1344=) c.4014A= (p.Leu1338=) c.723A= (p.Leu241=) c.765A= (p.Leu255=) c.476A= c.729A= (p.Leu243=) c.*3938A= (n.*3938A=) c.449A= c.846A= (p.Leu282=) c.468A= (p.Leu156=) c.471A= (p.Leu157=) c.5-27023A= (n.5-27023A=) c.-43-16453A= (n.-43-16453A=) c.-99+34297A= (n.-99+34297A=) n.4291A= n.4332A= | |
17 | g.43090974_43090983dup | CA10589685 | BRCA1 | c.4146_4155dup (p.Ser1386LeufsTer8) c.4020_4029dup (p.Ser1344LeufsTer8) c.4143_4152dup (p.Ser1385LeufsTer8) c.4068_4077dup (p.Ser1360LeufsTer8) c.834_843dup (p.Ser282LeufsTer8) c.696_705dup (p.Ser236LeufsTer8) c.3258_3267dup (p.Ser1090LeufsTer8) c.4023_4032dup (p.Ser1345LeufsTer8) c.4005_4014dup (p.Ser1339LeufsTer8) c.714_723dup (p.Ser242LeufsTer8) c.756_765dup (p.Ser256LeufsTer8) c.467_476dup c.720_729dup (p.Ser244LeufsTer8) c.*3929_*3938dup (n.*3929_*3938dup) c.440_449dup c.837_846dup (p.Ser283LeufsTer8) c.459_468dup (p.Ser157LeufsTer8) c.462_471dup (p.Ser158LeufsTer8) c.5-27032_5-27023dup (n.5-27032_5-27023dup) c.-43-16462_-43-16453dup (n.-43-16462_-43-16453dup) c.-99+34288_-99+34297dup (n.-99+34288_-99+34297dup) n.4282_4291dup n.4323_4332dup | ClinVar dbSNP |
17 | g.43090975A= | CA2260781672 | BRCA1 | c.4154T= (p.Leu1385=) c.4028T= (p.Leu1343=) c.4151T= (p.Leu1384=) c.4076T= (p.Leu1359=) c.842T= (p.Leu281=) c.704T= (p.Leu235=) c.3266T= (p.Leu1089=) c.4031T= (p.Leu1344=) c.4013T= (p.Leu1338=) c.722T= (p.Leu241=) c.764T= (p.Leu255=) c.475T= c.728T= (p.Leu243=) c.*3937T= (n.*3937T=) c.448T= c.845T= (p.Leu282=) c.467T= (p.Leu156=) c.470T= (p.Leu157=) c.5-27024T= (n.5-27024T=) c.-43-16454T= (n.-43-16454T=) c.-99+34296T= (n.-99+34296T=) n.4290T= n.4331T= | |
17 | g.43090975A>C | CA10593413 | BRCA1 | c.4154T>G (p.Leu1385Arg) c.4028T>G (p.Leu1343Arg) c.4151T>G (p.Leu1384Arg) c.4076T>G (p.Leu1359Arg) c.842T>G (p.Leu281Arg) c.704T>G (p.Leu235Arg) c.3266T>G (p.Leu1089Arg) c.4031T>G (p.Leu1344Arg) c.4013T>G (p.Leu1338Arg) c.722T>G (p.Leu241Arg) c.764T>G (p.Leu255Arg) c.475T>G c.728T>G (p.Leu243Arg) c.*3937T>G (n.*3937T>G) c.448T>G c.845T>G (p.Leu282Arg) c.467T>G (p.Leu156Arg) c.470T>G (p.Leu157Arg) c.5-27024T>G (n.5-27024T>G) c.-43-16454T>G (n.-43-16454T>G) c.-99+34296T>G (n.-99+34296T>G) n.4290T>G n.4331T>G | |
17 | g.43090975A>G | CA10593414 | BRCA1 | c.4154T>C (p.Leu1385Pro) c.4028T>C (p.Leu1343Pro) c.4151T>C (p.Leu1384Pro) c.4076T>C (p.Leu1359Pro) c.842T>C (p.Leu281Pro) c.704T>C (p.Leu235Pro) c.3266T>C (p.Leu1089Pro) c.4031T>C (p.Leu1344Pro) c.4013T>C (p.Leu1338Pro) c.722T>C (p.Leu241Pro) c.764T>C (p.Leu255Pro) c.475T>C c.728T>C (p.Leu243Pro) c.*3937T>C (n.*3937T>C) c.448T>C c.845T>C (p.Leu282Pro) c.467T>C (p.Leu156Pro) c.470T>C (p.Leu157Pro) c.5-27024T>C (n.5-27024T>C) c.-43-16454T>C (n.-43-16454T>C) c.-99+34296T>C (n.-99+34296T>C) n.4290T>C n.4331T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43090975A>T | CA10593415 | BRCA1 | c.4154T>A (p.Leu1385Gln) c.4028T>A (p.Leu1343Gln) c.4151T>A (p.Leu1384Gln) c.4076T>A (p.Leu1359Gln) c.842T>A (p.Leu281Gln) c.704T>A (p.Leu235Gln) c.3266T>A (p.Leu1089Gln) c.4031T>A (p.Leu1344Gln) c.4013T>A (p.Leu1338Gln) c.722T>A (p.Leu241Gln) c.764T>A (p.Leu255Gln) c.475T>A c.728T>A (p.Leu243Gln) c.*3937T>A (n.*3937T>A) c.448T>A c.845T>A (p.Leu282Gln) c.467T>A (p.Leu156Gln) c.470T>A (p.Leu157Gln) c.5-27024T>A (n.5-27024T>A) c.-43-16454T>A (n.-43-16454T>A) c.-99+34296T>A (n.-99+34296T>A) n.4290T>A n.4331T>A | ClinVar dbSNP |
17 | g.43090975_43090976del | CA2499224438 | BRCA1 | c.4153_4154del (p.Leu1385IlefsTer5) c.4027_4028del (p.Leu1343IlefsTer5) c.4150_4151del (p.Leu1384IlefsTer5) c.4075_4076del (p.Leu1359IlefsTer5) c.841_842del (p.Leu281IlefsTer5) c.703_704del (p.Leu235IlefsTer5) c.3265_3266del (p.Leu1089IlefsTer5) c.4030_4031del (p.Leu1344IlefsTer5) c.4012_4013del (p.Leu1338IlefsTer5) c.721_722del (p.Leu241IlefsTer5) c.763_764del (p.Leu255IlefsTer5) c.474_475del c.727_728del (p.Leu243IlefsTer5) c.*3936_*3937del (n.*3936_*3937del) c.447_448del c.844_845del (p.Leu282IlefsTer5) c.466_467del (p.Leu156IlefsTer5) c.469_470del (p.Leu157IlefsTer5) c.5-27025_5-27024del (n.5-27025_5-27024del) c.-43-16455_-43-16454del (n.-43-16455_-43-16454del) c.-99+34295_-99+34296del (n.-99+34295_-99+34296del) n.4289_4290del n.4330_4331del | |
17 | g.43090975_43090977delinsAGC | CA2260781671 | BRCA1 | c.4152_4154delinsGCT (p.Gly1384=) c.4026_4028delinsGCT (p.Gly1342=) c.4149_4151delinsGCT (p.Gly1383=) c.4074_4076delinsGCT (p.Gly1358=) c.840_842delinsGCT (p.Gly280=) c.702_704delinsGCT (p.Gly234=) c.3264_3266delinsGCT (p.Gly1088=) c.4029_4031delinsGCT (p.Gly1343=) c.4011_4013delinsGCT (p.Gly1337=) c.720_722delinsGCT (p.Gly240=) c.762_764delinsGCT (p.Gly254=) c.473_475delinsGCT c.726_728delinsGCT (p.Gly242=) c.*3935_*3937delinsGCT (n.*3935_*3937delinsGCT) c.446_448delinsGCT c.843_845delinsGCT (p.Gly281=) c.465_467delinsGCT (p.Gly155=) c.468_470delinsGCT (p.Gly156=) c.5-27026_5-27024delinsGCT (n.5-27026_5-27024delinsGCT) c.-43-16456_-43-16454delinsGCT (n.-43-16456_-43-16454delinsGCT) c.-99+34294_-99+34296delinsGCT (n.-99+34294_-99+34296delinsGCT) n.4288_4290delinsGCT n.4329_4331delinsGCT | |
17 | g.43090976G>A | CA500122971 | BRCA1 | c.4153C>T (p.Leu1385=) c.4027C>T (p.Leu1343=) c.4150C>T (p.Leu1384=) c.4075C>T (p.Leu1359=) c.841C>T (p.Leu281=) c.703C>T (p.Leu235=) c.3265C>T (p.Leu1089=) c.4030C>T (p.Leu1344=) c.4012C>T (p.Leu1338=) c.721C>T (p.Leu241=) c.763C>T (p.Leu255=) c.474C>T c.727C>T (p.Leu243=) c.*3936C>T (n.*3936C>T) c.447C>T c.844C>T (p.Leu282=) c.466C>T (p.Leu156=) c.469C>T (p.Leu157=) c.5-27025C>T (n.5-27025C>T) c.-43-16455C>T (n.-43-16455C>T) c.-99+34295C>T (n.-99+34295C>T) n.4289C>T n.4330C>T | ClinVar dbSNP |
17 | g.43090976G>C | CA10593416 | BRCA1 | c.4153C>G (p.Leu1385Val) c.4027C>G (p.Leu1343Val) c.4150C>G (p.Leu1384Val) c.4075C>G (p.Leu1359Val) c.841C>G (p.Leu281Val) c.703C>G (p.Leu235Val) c.3265C>G (p.Leu1089Val) c.4030C>G (p.Leu1344Val) c.4012C>G (p.Leu1338Val) c.721C>G (p.Leu241Val) c.763C>G (p.Leu255Val) c.474C>G c.727C>G (p.Leu243Val) c.*3936C>G (n.*3936C>G) c.447C>G c.844C>G (p.Leu282Val) c.466C>G (p.Leu156Val) c.469C>G (p.Leu157Val) c.5-27025C>G (n.5-27025C>G) c.-43-16455C>G (n.-43-16455C>G) c.-99+34295C>G (n.-99+34295C>G) n.4289C>G n.4330C>G | ClinVar dbSNP |
17 | g.43090976G>T | CA10593417 | BRCA1 | c.4153C>A (p.Leu1385Ile) c.4027C>A (p.Leu1343Ile) c.4150C>A (p.Leu1384Ile) c.4075C>A (p.Leu1359Ile) c.841C>A (p.Leu281Ile) c.703C>A (p.Leu235Ile) c.3265C>A (p.Leu1089Ile) c.4030C>A (p.Leu1344Ile) c.4012C>A (p.Leu1338Ile) c.721C>A (p.Leu241Ile) c.763C>A (p.Leu255Ile) c.474C>A c.727C>A (p.Leu243Ile) c.*3936C>A (n.*3936C>A) c.447C>A c.844C>A (p.Leu282Ile) c.466C>A (p.Leu156Ile) c.469C>A (p.Leu157Ile) c.5-27025C>A (n.5-27025C>A) c.-43-16455C>A (n.-43-16455C>A) c.-99+34295C>A (n.-99+34295C>A) n.4289C>A n.4330C>A | |
17 | g.43090976_43090977del | CA891844428 | BRCA1 | c.4152_4153del (p.Leu1385IlefsTer5) c.4026_4027del (p.Leu1343IlefsTer5) c.4149_4150del (p.Leu1384IlefsTer5) c.4074_4075del (p.Leu1359IlefsTer5) c.840_841del (p.Leu281IlefsTer5) c.702_703del (p.Leu235IlefsTer5) c.3264_3265del (p.Leu1089IlefsTer5) c.4029_4030del (p.Leu1344IlefsTer5) c.4011_4012del (p.Leu1338IlefsTer5) c.720_721del (p.Leu241IlefsTer5) c.762_763del (p.Leu255IlefsTer5) c.473_474del c.726_727del (p.Leu243IlefsTer5) c.*3935_*3936del (n.*3935_*3936del) c.446_447del c.843_844del (p.Leu282IlefsTer5) c.465_466del (p.Leu156IlefsTer5) c.468_469del (p.Leu157IlefsTer5) c.5-27026_5-27025del (n.5-27026_5-27025del) c.-43-16456_-43-16455del (n.-43-16456_-43-16455del) c.-99+34294_-99+34295del (n.-99+34294_-99+34295del) n.4288_4289del n.4329_4330del | ClinVar dbSNP |
17 | g.43090977C>A | CA500122975 | BRCA1 | c.4152G>T (p.Gly1384=) c.4026G>T (p.Gly1342=) c.4149G>T (p.Gly1383=) c.4074G>T (p.Gly1358=) c.840G>T (p.Gly280=) c.702G>T (p.Gly234=) c.3264G>T (p.Gly1088=) c.4029G>T (p.Gly1343=) c.4011G>T (p.Gly1337=) c.720G>T (p.Gly240=) c.762G>T (p.Gly254=) c.473G>T c.726G>T (p.Gly242=) c.*3935G>T (n.*3935G>T) c.446G>T c.843G>T (p.Gly281=) c.465G>T (p.Gly155=) c.468G>T (p.Gly156=) c.5-27026G>T (n.5-27026G>T) c.-43-16456G>T (n.-43-16456G>T) c.-99+34294G>T (n.-99+34294G>T) n.4288G>T n.4329G>T | ClinVar dbSNP |
17 | g.43090977C>G | CA500122977 | BRCA1 | c.4152G>C (p.Gly1384=) c.4026G>C (p.Gly1342=) c.4149G>C (p.Gly1383=) c.4074G>C (p.Gly1358=) c.840G>C (p.Gly280=) c.702G>C (p.Gly234=) c.3264G>C (p.Gly1088=) c.4029G>C (p.Gly1343=) c.4011G>C (p.Gly1337=) c.720G>C (p.Gly240=) c.762G>C (p.Gly254=) c.473G>C c.726G>C (p.Gly242=) c.*3935G>C (n.*3935G>C) c.446G>C c.843G>C (p.Gly281=) c.465G>C (p.Gly155=) c.468G>C (p.Gly156=) c.5-27026G>C (n.5-27026G>C) c.-43-16456G>C (n.-43-16456G>C) c.-99+34294G>C (n.-99+34294G>C) n.4288G>C n.4329G>C | dbSNP |
17 | g.43090977C>T | CA500122978 | BRCA1 | c.4152G>A (p.Gly1384=) c.4026G>A (p.Gly1342=) c.4149G>A (p.Gly1383=) c.4074G>A (p.Gly1358=) c.840G>A (p.Gly280=) c.702G>A (p.Gly234=) c.3264G>A (p.Gly1088=) c.4029G>A (p.Gly1343=) c.4011G>A (p.Gly1337=) c.720G>A (p.Gly240=) c.762G>A (p.Gly254=) c.473G>A c.726G>A (p.Gly242=) c.*3935G>A (n.*3935G>A) c.446G>A c.843G>A (p.Gly281=) c.465G>A (p.Gly155=) c.468G>A (p.Gly156=) c.5-27026G>A (n.5-27026G>A) c.-43-16456G>A (n.-43-16456G>A) c.-99+34294G>A (n.-99+34294G>A) n.4288G>A n.4329G>A | dbSNP |
17 | g.43090978C>A | CA10593418 | BRCA1 | c.4151G>T (p.Gly1384Val) c.4025G>T (p.Gly1342Val) c.4148G>T (p.Gly1383Val) c.4073G>T (p.Gly1358Val) c.839G>T (p.Gly280Val) c.701G>T (p.Gly234Val) c.3263G>T (p.Gly1088Val) c.4028G>T (p.Gly1343Val) c.4010G>T (p.Gly1337Val) c.719G>T (p.Gly240Val) c.761G>T (p.Gly254Val) c.472G>T c.725G>T (p.Gly242Val) c.*3934G>T (n.*3934G>T) c.445G>T c.842G>T (p.Gly281Val) c.464G>T (p.Gly155Val) c.467G>T (p.Gly156Val) c.5-27027G>T (n.5-27027G>T) c.-43-16457G>T (n.-43-16457G>T) c.-99+34293G>T (n.-99+34293G>T) n.4287G>T n.4328G>T | dbSNP |
17 | g.43090978C= | CA2260781673 | BRCA1 | c.4151G= (p.Gly1384=) c.4025G= (p.Gly1342=) c.4148G= (p.Gly1383=) c.4073G= (p.Gly1358=) c.839G= (p.Gly280=) c.701G= (p.Gly234=) c.3263G= (p.Gly1088=) c.4028G= (p.Gly1343=) c.4010G= (p.Gly1337=) c.719G= (p.Gly240=) c.761G= (p.Gly254=) c.472G= c.725G= (p.Gly242=) c.*3934G= (n.*3934G=) c.445G= c.842G= (p.Gly281=) c.464G= (p.Gly155=) c.467G= (p.Gly156=) c.5-27027G= (n.5-27027G=) c.-43-16457G= (n.-43-16457G=) c.-99+34293G= (n.-99+34293G=) n.4287G= n.4328G= | |
17 | g.43090978C>G | CA10593419 | BRCA1 | c.4151G>C (p.Gly1384Ala) c.4025G>C (p.Gly1342Ala) c.4148G>C (p.Gly1383Ala) c.4073G>C (p.Gly1358Ala) c.839G>C (p.Gly280Ala) c.701G>C (p.Gly234Ala) c.3263G>C (p.Gly1088Ala) c.4028G>C (p.Gly1343Ala) c.4010G>C (p.Gly1337Ala) c.719G>C (p.Gly240Ala) c.761G>C (p.Gly254Ala) c.472G>C c.725G>C (p.Gly242Ala) c.*3934G>C (n.*3934G>C) c.445G>C c.842G>C (p.Gly281Ala) c.464G>C (p.Gly155Ala) c.467G>C (p.Gly156Ala) c.5-27027G>C (n.5-27027G>C) c.-43-16457G>C (n.-43-16457G>C) c.-99+34293G>C (n.-99+34293G>C) n.4287G>C n.4328G>C | dbSNP |
17 | g.43090978C>T | CA002658 | BRCA1 | c.4151G>A (p.Gly1384Glu) c.4025G>A (p.Gly1342Glu) c.4148G>A (p.Gly1383Glu) c.4073G>A (p.Gly1358Glu) c.839G>A (p.Gly280Glu) c.701G>A (p.Gly234Glu) c.3263G>A (p.Gly1088Glu) c.4028G>A (p.Gly1343Glu) c.4010G>A (p.Gly1337Glu) c.719G>A (p.Gly240Glu) c.761G>A (p.Gly254Glu) c.472G>A c.725G>A (p.Gly242Glu) c.*3934G>A (n.*3934G>A) c.445G>A c.842G>A (p.Gly281Glu) c.464G>A (p.Gly155Glu) c.467G>A (p.Gly156Glu) c.5-27027G>A (n.5-27027G>A) c.-43-16457G>A (n.-43-16457G>A) c.-99+34293G>A (n.-99+34293G>A) n.4287G>A n.4328G>A | ClinVar dbSNP |
17 | g.43090979C>A | CA10593420 | BRCA1 | c.4150G>T (p.Gly1384Trp) c.4024G>T (p.Gly1342Trp) c.4147G>T (p.Gly1383Trp) c.4072G>T (p.Gly1358Trp) c.838G>T (p.Gly280Trp) c.700G>T (p.Gly234Trp) c.3262G>T (p.Gly1088Trp) c.4027G>T (p.Gly1343Trp) c.4009G>T (p.Gly1337Trp) c.718G>T (p.Gly240Trp) c.760G>T (p.Gly254Trp) c.471G>T c.724G>T (p.Gly242Trp) c.*3933G>T (n.*3933G>T) c.444G>T c.841G>T (p.Gly281Trp) c.463G>T (p.Gly155Trp) c.466G>T (p.Gly156Trp) c.5-27028G>T (n.5-27028G>T) c.-43-16458G>T (n.-43-16458G>T) c.-99+34292G>T (n.-99+34292G>T) n.4286G>T n.4327G>T | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.43090979C= | CA2260781674 | BRCA1 | c.4150G= (p.Gly1384=) c.4024G= (p.Gly1342=) c.4147G= (p.Gly1383=) c.4072G= (p.Gly1358=) c.838G= (p.Gly280=) c.700G= (p.Gly234=) c.3262G= (p.Gly1088=) c.4027G= (p.Gly1343=) c.4009G= (p.Gly1337=) c.718G= (p.Gly240=) c.760G= (p.Gly254=) c.471G= c.724G= (p.Gly242=) c.*3933G= (n.*3933G=) c.444G= c.841G= (p.Gly281=) c.463G= (p.Gly155=) c.466G= (p.Gly156=) c.5-27028G= (n.5-27028G=) c.-43-16458G= (n.-43-16458G=) c.-99+34292G= (n.-99+34292G=) n.4286G= n.4327G= | |
17 | g.43090979C>G | CA10593421 | BRCA1 | c.4150G>C (p.Gly1384Arg) c.4024G>C (p.Gly1342Arg) c.4147G>C (p.Gly1383Arg) c.4072G>C (p.Gly1358Arg) c.838G>C (p.Gly280Arg) c.700G>C (p.Gly234Arg) c.3262G>C (p.Gly1088Arg) c.4027G>C (p.Gly1343Arg) c.4009G>C (p.Gly1337Arg) c.718G>C (p.Gly240Arg) c.760G>C (p.Gly254Arg) c.471G>C c.724G>C (p.Gly242Arg) c.*3933G>C (n.*3933G>C) c.444G>C c.841G>C (p.Gly281Arg) c.463G>C (p.Gly155Arg) c.466G>C (p.Gly156Arg) c.5-27028G>C (n.5-27028G>C) c.-43-16458G>C (n.-43-16458G>C) c.-99+34292G>C (n.-99+34292G>C) n.4286G>C n.4327G>C | dbSNP |
17 | g.43090979C>T | CA10593422 | BRCA1 | c.4150G>A (p.Gly1384Arg) c.4024G>A (p.Gly1342Arg) c.4147G>A (p.Gly1383Arg) c.4072G>A (p.Gly1358Arg) c.838G>A (p.Gly280Arg) c.700G>A (p.Gly234Arg) c.3262G>A (p.Gly1088Arg) c.4027G>A (p.Gly1343Arg) c.4009G>A (p.Gly1337Arg) c.718G>A (p.Gly240Arg) c.760G>A (p.Gly254Arg) c.471G>A c.724G>A (p.Gly242Arg) c.*3933G>A (n.*3933G>A) c.444G>A c.841G>A (p.Gly281Arg) c.463G>A (p.Gly155Arg) c.466G>A (p.Gly156Arg) c.5-27028G>A (n.5-27028G>A) c.-43-16458G>A (n.-43-16458G>A) c.-99+34292G>A (n.-99+34292G>A) n.4286G>A n.4327G>A | ClinVar dbSNP |
17 | g.43090980T>A | CA500122988 | BRCA1 | c.4149A>T (p.Ser1383=) c.4023A>T (p.Ser1341=) c.4146A>T (p.Ser1382=) c.4071A>T (p.Ser1357=) c.837A>T (p.Ser279=) c.699A>T (p.Ser233=) c.3261A>T (p.Ser1087=) c.4026A>T (p.Ser1342=) c.4008A>T (p.Ser1336=) c.717A>T (p.Ser239=) c.759A>T (p.Ser253=) c.470A>T c.723A>T (p.Ser241=) c.*3932A>T (n.*3932A>T) c.443A>T c.840A>T (p.Ser280=) c.462A>T (p.Ser154=) c.465A>T (p.Ser155=) c.5-27029A>T (n.5-27029A>T) c.-43-16459A>T (n.-43-16459A>T) c.-99+34291A>T (n.-99+34291A>T) n.4285A>T n.4326A>T | |
17 | g.43090980T>C | CA500122990 | BRCA1 | c.4149A>G (p.Ser1383=) c.4023A>G (p.Ser1341=) c.4146A>G (p.Ser1382=) c.4071A>G (p.Ser1357=) c.837A>G (p.Ser279=) c.699A>G (p.Ser233=) c.3261A>G (p.Ser1087=) c.4026A>G (p.Ser1342=) c.4008A>G (p.Ser1336=) c.717A>G (p.Ser239=) c.759A>G (p.Ser253=) c.470A>G c.723A>G (p.Ser241=) c.*3932A>G (n.*3932A>G) c.443A>G c.840A>G (p.Ser280=) c.462A>G (p.Ser154=) c.465A>G (p.Ser155=) c.5-27029A>G (n.5-27029A>G) c.-43-16459A>G (n.-43-16459A>G) c.-99+34291A>G (n.-99+34291A>G) n.4285A>G n.4326A>G | |
17 | g.43090980T>G | CA500122991 | BRCA1 | c.4149A>C (p.Ser1383=) c.4023A>C (p.Ser1341=) c.4146A>C (p.Ser1382=) c.4071A>C (p.Ser1357=) c.837A>C (p.Ser279=) c.699A>C (p.Ser233=) c.3261A>C (p.Ser1087=) c.4026A>C (p.Ser1342=) c.4008A>C (p.Ser1336=) c.717A>C (p.Ser239=) c.759A>C (p.Ser253=) c.470A>C c.723A>C (p.Ser241=) c.*3932A>C (n.*3932A>C) c.443A>C c.840A>C (p.Ser280=) c.462A>C (p.Ser154=) c.465A>C (p.Ser155=) c.5-27029A>C (n.5-27029A>C) c.-43-16459A>C (n.-43-16459A>C) c.-99+34291A>C (n.-99+34291A>C) n.4285A>C n.4326A>C | |
17 | g.43090981G>A | CA10593423 | BRCA1 | c.4148C>T (p.Ser1383Leu) c.4022C>T (p.Ser1341Leu) c.4145C>T (p.Ser1382Leu) c.4070C>T (p.Ser1357Leu) c.836C>T (p.Ser279Leu) c.698C>T (p.Ser233Leu) c.3260C>T (p.Ser1087Leu) c.4025C>T (p.Ser1342Leu) c.4007C>T (p.Ser1336Leu) c.716C>T (p.Ser239Leu) c.758C>T (p.Ser253Leu) c.469C>T c.722C>T (p.Ser241Leu) c.*3931C>T (n.*3931C>T) c.442C>T c.839C>T (p.Ser280Leu) c.461C>T (p.Ser154Leu) c.464C>T (p.Ser155Leu) c.5-27030C>T (n.5-27030C>T) c.-43-16460C>T (n.-43-16460C>T) c.-99+34290C>T (n.-99+34290C>T) n.4284C>T n.4325C>T | ClinVar dbSNP |
17 | g.43090981G>C | CA002657 | BRCA1 | c.4148C>G (p.Ser1383Ter) c.4022C>G (p.Ser1341Ter) c.4145C>G (p.Ser1382Ter) c.4070C>G (p.Ser1357Ter) c.836C>G (p.Ser279Ter) c.698C>G (p.Ser233Ter) c.3260C>G (p.Ser1087Ter) c.4025C>G (p.Ser1342Ter) c.4007C>G (p.Ser1336Ter) c.716C>G (p.Ser239Ter) c.758C>G (p.Ser253Ter) c.469C>G c.722C>G (p.Ser241Ter) c.*3931C>G (n.*3931C>G) c.442C>G c.839C>G (p.Ser280Ter) c.461C>G (p.Ser154Ter) c.464C>G (p.Ser155Ter) c.5-27030C>G (n.5-27030C>G) c.-43-16460C>G (n.-43-16460C>G) c.-99+34290C>G (n.-99+34290C>G) n.4284C>G n.4325C>G | ClinVar dbSNP |
17 | g.43090981G= | CA2260781675 | BRCA1 | c.4148C= (p.Ser1383=) c.4022C= (p.Ser1341=) c.4145C= (p.Ser1382=) c.4070C= (p.Ser1357=) c.836C= (p.Ser279=) c.698C= (p.Ser233=) c.3260C= (p.Ser1087=) c.4025C= (p.Ser1342=) c.4007C= (p.Ser1336=) c.716C= (p.Ser239=) c.758C= (p.Ser253=) c.469C= c.722C= (p.Ser241=) c.*3931C= (n.*3931C=) c.442C= c.839C= (p.Ser280=) c.461C= (p.Ser154=) c.464C= (p.Ser155=) c.5-27030C= (n.5-27030C=) c.-43-16460C= (n.-43-16460C=) c.-99+34290C= (n.-99+34290C=) n.4284C= n.4325C= | |
17 | g.43090981G>T | CA10593424 | BRCA1 | c.4148C>A (p.Ser1383Ter) c.4022C>A (p.Ser1341Ter) c.4145C>A (p.Ser1382Ter) c.4070C>A (p.Ser1357Ter) c.836C>A (p.Ser279Ter) c.698C>A (p.Ser233Ter) c.3260C>A (p.Ser1087Ter) c.4025C>A (p.Ser1342Ter) c.4007C>A (p.Ser1336Ter) c.716C>A (p.Ser239Ter) c.758C>A (p.Ser253Ter) c.469C>A c.722C>A (p.Ser241Ter) c.*3931C>A (n.*3931C>A) c.442C>A c.839C>A (p.Ser280Ter) c.461C>A (p.Ser154Ter) c.464C>A (p.Ser155Ter) c.5-27030C>A (n.5-27030C>A) c.-43-16460C>A (n.-43-16460C>A) c.-99+34290C>A (n.-99+34290C>A) n.4284C>A n.4325C>A | dbSNP |
17 | g.43090982A= | CA2260781676 | BRCA1 | c.4147T= (p.Ser1383=) c.4021T= (p.Ser1341=) c.4144T= (p.Ser1382=) c.4069T= (p.Ser1357=) c.835T= (p.Ser279=) c.697T= (p.Ser233=) c.3259T= (p.Ser1087=) c.4024T= (p.Ser1342=) c.4006T= (p.Ser1336=) c.715T= (p.Ser239=) c.757T= (p.Ser253=) c.468T= c.721T= (p.Ser241=) c.*3930T= (n.*3930T=) c.441T= c.838T= (p.Ser280=) c.460T= (p.Ser154=) c.463T= (p.Ser155=) c.5-27031T= (n.5-27031T=) c.-43-16461T= (n.-43-16461T=) c.-99+34289T= (n.-99+34289T=) n.4283T= n.4324T= | |
17 | g.43090982A>C | CA10593425 | BRCA1 | c.4147T>G (p.Ser1383Ala) c.4021T>G (p.Ser1341Ala) c.4144T>G (p.Ser1382Ala) c.4069T>G (p.Ser1357Ala) c.835T>G (p.Ser279Ala) c.697T>G (p.Ser233Ala) c.3259T>G (p.Ser1087Ala) c.4024T>G (p.Ser1342Ala) c.4006T>G (p.Ser1336Ala) c.715T>G (p.Ser239Ala) c.757T>G (p.Ser253Ala) c.468T>G c.721T>G (p.Ser241Ala) c.*3930T>G (n.*3930T>G) c.441T>G c.838T>G (p.Ser280Ala) c.460T>G (p.Ser154Ala) c.463T>G (p.Ser155Ala) c.5-27031T>G (n.5-27031T>G) c.-43-16461T>G (n.-43-16461T>G) c.-99+34289T>G (n.-99+34289T>G) n.4283T>G n.4324T>G | |
17 | g.43090982A>G | CA10593426 | BRCA1 | c.4147T>C (p.Ser1383Pro) c.4021T>C (p.Ser1341Pro) c.4144T>C (p.Ser1382Pro) c.4069T>C (p.Ser1357Pro) c.835T>C (p.Ser279Pro) c.697T>C (p.Ser233Pro) c.3259T>C (p.Ser1087Pro) c.4024T>C (p.Ser1342Pro) c.4006T>C (p.Ser1336Pro) c.715T>C (p.Ser239Pro) c.757T>C (p.Ser253Pro) c.468T>C c.721T>C (p.Ser241Pro) c.*3930T>C (n.*3930T>C) c.441T>C c.838T>C (p.Ser280Pro) c.460T>C (p.Ser154Pro) c.463T>C (p.Ser155Pro) c.5-27031T>C (n.5-27031T>C) c.-43-16461T>C (n.-43-16461T>C) c.-99+34289T>C (n.-99+34289T>C) n.4283T>C n.4324T>C | ClinVar dbSNP |
17 | g.43090982A>T | CA10593427 | BRCA1 | c.4147T>A (p.Ser1383Thr) c.4021T>A (p.Ser1341Thr) c.4144T>A (p.Ser1382Thr) c.4069T>A (p.Ser1357Thr) c.835T>A (p.Ser279Thr) c.697T>A (p.Ser233Thr) c.3259T>A (p.Ser1087Thr) c.4024T>A (p.Ser1342Thr) c.4006T>A (p.Ser1336Thr) c.715T>A (p.Ser239Thr) c.757T>A (p.Ser253Thr) c.468T>A c.721T>A (p.Ser241Thr) c.*3930T>A (n.*3930T>A) c.441T>A c.838T>A (p.Ser280Thr) c.460T>A (p.Ser154Thr) c.463T>A (p.Ser155Thr) c.5-27031T>A (n.5-27031T>A) c.-43-16461T>A (n.-43-16461T>A) c.-99+34289T>A (n.-99+34289T>A) n.4283T>A n.4324T>A | dbSNP |
17 | g.43090983G>A | CA500122997 | BRCA1 | c.4146C>T (p.Cys1382=) c.4020C>T (p.Cys1340=) c.4143C>T (p.Cys1381=) c.4068C>T (p.Cys1356=) c.834C>T (p.Cys278=) c.696C>T (p.Cys232=) c.3258C>T (p.Cys1086=) c.4023C>T (p.Cys1341=) c.4005C>T (p.Cys1335=) c.714C>T (p.Cys238=) c.756C>T (p.Cys252=) c.467C>T c.720C>T (p.Cys240=) c.*3929C>T (n.*3929C>T) c.440C>T c.837C>T (p.Cys279=) c.459C>T (p.Cys153=) c.462C>T (p.Cys154=) c.5-27032C>T (n.5-27032C>T) c.-43-16462C>T (n.-43-16462C>T) c.-99+34288C>T (n.-99+34288C>T) n.4282C>T n.4323C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43090983G>C | CA10593428 | BRCA1 | c.4146C>G (p.Cys1382Trp) c.4020C>G (p.Cys1340Trp) c.4143C>G (p.Cys1381Trp) c.4068C>G (p.Cys1356Trp) c.834C>G (p.Cys278Trp) c.696C>G (p.Cys232Trp) c.3258C>G (p.Cys1086Trp) c.4023C>G (p.Cys1341Trp) c.4005C>G (p.Cys1335Trp) c.714C>G (p.Cys238Trp) c.756C>G (p.Cys252Trp) c.467C>G c.720C>G (p.Cys240Trp) c.*3929C>G (n.*3929C>G) c.440C>G c.837C>G (p.Cys279Trp) c.459C>G (p.Cys153Trp) c.462C>G (p.Cys154Trp) c.5-27032C>G (n.5-27032C>G) c.-43-16462C>G (n.-43-16462C>G) c.-99+34288C>G (n.-99+34288C>G) n.4282C>G n.4323C>G | dbSNP |
17 | g.43090983G= | CA2260781677 | BRCA1 | c.4146C= (p.Cys1382=) c.4020C= (p.Cys1340=) c.4143C= (p.Cys1381=) c.4068C= (p.Cys1356=) c.834C= (p.Cys278=) c.696C= (p.Cys232=) c.3258C= (p.Cys1086=) c.4023C= (p.Cys1341=) c.4005C= (p.Cys1335=) c.714C= (p.Cys238=) c.756C= (p.Cys252=) c.467C= c.720C= (p.Cys240=) c.*3929C= (n.*3929C=) c.440C= c.837C= (p.Cys279=) c.459C= (p.Cys153=) c.462C= (p.Cys154=) c.5-27032C= (n.5-27032C=) c.-43-16462C= (n.-43-16462C=) c.-99+34288C= (n.-99+34288C=) n.4282C= n.4323C= | |
17 | g.43090983G>T | CA10593429 | BRCA1 | c.4146C>A (p.Cys1382Ter) c.4020C>A (p.Cys1340Ter) c.4143C>A (p.Cys1381Ter) c.4068C>A (p.Cys1356Ter) c.834C>A (p.Cys278Ter) c.696C>A (p.Cys232Ter) c.3258C>A (p.Cys1086Ter) c.4023C>A (p.Cys1341Ter) c.4005C>A (p.Cys1335Ter) c.714C>A (p.Cys238Ter) c.756C>A (p.Cys252Ter) c.467C>A c.720C>A (p.Cys240Ter) c.*3929C>A (n.*3929C>A) c.440C>A c.837C>A (p.Cys279Ter) c.459C>A (p.Cys153Ter) c.462C>A (p.Cys154Ter) c.5-27032C>A (n.5-27032C>A) c.-43-16462C>A (n.-43-16462C>A) c.-99+34288C>A (n.-99+34288C>A) n.4282C>A n.4323C>A | ClinVar dbSNP |
17 | g.43090984C>A | CA10593430 | BRCA1 | c.4145G>T (p.Cys1382Phe) c.4019G>T (p.Cys1340Phe) c.4142G>T (p.Cys1381Phe) c.4067G>T (p.Cys1356Phe) c.833G>T (p.Cys278Phe) c.695G>T (p.Cys232Phe) c.3257G>T (p.Cys1086Phe) c.4022G>T (p.Cys1341Phe) c.4004G>T (p.Cys1335Phe) c.713G>T (p.Cys238Phe) c.755G>T (p.Cys252Phe) c.466G>T c.719G>T (p.Cys240Phe) c.*3928G>T (n.*3928G>T) c.439G>T c.836G>T (p.Cys279Phe) c.458G>T (p.Cys153Phe) c.461G>T (p.Cys154Phe) c.5-27033G>T (n.5-27033G>T) c.-43-16463G>T (n.-43-16463G>T) c.-99+34287G>T (n.-99+34287G>T) n.4281G>T n.4322G>T | dbSNP |
17 | g.43090984C>G | CA10593431 | BRCA1 | c.4145G>C (p.Cys1382Ser) c.4019G>C (p.Cys1340Ser) c.4142G>C (p.Cys1381Ser) c.4067G>C (p.Cys1356Ser) c.833G>C (p.Cys278Ser) c.695G>C (p.Cys232Ser) c.3257G>C (p.Cys1086Ser) c.4022G>C (p.Cys1341Ser) c.4004G>C (p.Cys1335Ser) c.713G>C (p.Cys238Ser) c.755G>C (p.Cys252Ser) c.466G>C c.719G>C (p.Cys240Ser) c.*3928G>C (n.*3928G>C) c.439G>C c.836G>C (p.Cys279Ser) c.458G>C (p.Cys153Ser) c.461G>C (p.Cys154Ser) c.5-27033G>C (n.5-27033G>C) c.-43-16463G>C (n.-43-16463G>C) c.-99+34287G>C (n.-99+34287G>C) n.4281G>C n.4322G>C | dbSNP |
17 | g.43090984C>T | CA10593432 | BRCA1 | c.4145G>A (p.Cys1382Tyr) c.4019G>A (p.Cys1340Tyr) c.4142G>A (p.Cys1381Tyr) c.4067G>A (p.Cys1356Tyr) c.833G>A (p.Cys278Tyr) c.695G>A (p.Cys232Tyr) c.3257G>A (p.Cys1086Tyr) c.4022G>A (p.Cys1341Tyr) c.4004G>A (p.Cys1335Tyr) c.713G>A (p.Cys238Tyr) c.755G>A (p.Cys252Tyr) c.466G>A c.719G>A (p.Cys240Tyr) c.*3928G>A (n.*3928G>A) c.439G>A c.836G>A (p.Cys279Tyr) c.458G>A (p.Cys153Tyr) c.461G>A (p.Cys154Tyr) c.5-27033G>A (n.5-27033G>A) c.-43-16463G>A (n.-43-16463G>A) c.-99+34287G>A (n.-99+34287G>A) n.4281G>A n.4322G>A | dbSNP |
17 | g.43090985A= | CA2260781678 | BRCA1 | c.4144T= (p.Cys1382=) c.4018T= (p.Cys1340=) c.4141T= (p.Cys1381=) c.4066T= (p.Cys1356=) c.832T= (p.Cys278=) c.694T= (p.Cys232=) c.3256T= (p.Cys1086=) c.4021T= (p.Cys1341=) c.4003T= (p.Cys1335=) c.712T= (p.Cys238=) c.754T= (p.Cys252=) c.465T= c.718T= (p.Cys240=) c.*3927T= (n.*3927T=) c.438T= c.835T= (p.Cys279=) c.457T= (p.Cys153=) c.460T= (p.Cys154=) c.5-27034T= (n.5-27034T=) c.-43-16464T= (n.-43-16464T=) c.-99+34286T= (n.-99+34286T=) n.4280T= n.4321T= | |
17 | g.43090985A>C | CA10593433 | BRCA1 | c.4144T>G (p.Cys1382Gly) c.4018T>G (p.Cys1340Gly) c.4141T>G (p.Cys1381Gly) c.4066T>G (p.Cys1356Gly) c.832T>G (p.Cys278Gly) c.694T>G (p.Cys232Gly) c.3256T>G (p.Cys1086Gly) c.4021T>G (p.Cys1341Gly) c.4003T>G (p.Cys1335Gly) c.712T>G (p.Cys238Gly) c.754T>G (p.Cys252Gly) c.465T>G c.718T>G (p.Cys240Gly) c.*3927T>G (n.*3927T>G) c.438T>G c.835T>G (p.Cys279Gly) c.457T>G (p.Cys153Gly) c.460T>G (p.Cys154Gly) c.5-27034T>G (n.5-27034T>G) c.-43-16464T>G (n.-43-16464T>G) c.-99+34286T>G (n.-99+34286T>G) n.4280T>G n.4321T>G | |
17 | g.43090985A>G | CA10593434 | BRCA1 | c.4144T>C (p.Cys1382Arg) c.4018T>C (p.Cys1340Arg) c.4141T>C (p.Cys1381Arg) c.4066T>C (p.Cys1356Arg) c.832T>C (p.Cys278Arg) c.694T>C (p.Cys232Arg) c.3256T>C (p.Cys1086Arg) c.4021T>C (p.Cys1341Arg) c.4003T>C (p.Cys1335Arg) c.712T>C (p.Cys238Arg) c.754T>C (p.Cys252Arg) c.465T>C c.718T>C (p.Cys240Arg) c.*3927T>C (n.*3927T>C) c.438T>C c.835T>C (p.Cys279Arg) c.457T>C (p.Cys153Arg) c.460T>C (p.Cys154Arg) c.5-27034T>C (n.5-27034T>C) c.-43-16464T>C (n.-43-16464T>C) c.-99+34286T>C (n.-99+34286T>C) n.4280T>C n.4321T>C | |
17 | g.43090985A>T | CA002655 | BRCA1 | c.4144T>A (p.Cys1382Ser) c.4018T>A (p.Cys1340Ser) c.4141T>A (p.Cys1381Ser) c.4066T>A (p.Cys1356Ser) c.832T>A (p.Cys278Ser) c.694T>A (p.Cys232Ser) c.3256T>A (p.Cys1086Ser) c.4021T>A (p.Cys1341Ser) c.4003T>A (p.Cys1335Ser) c.712T>A (p.Cys238Ser) c.754T>A (p.Cys252Ser) c.465T>A c.718T>A (p.Cys240Ser) c.*3927T>A (n.*3927T>A) c.438T>A c.835T>A (p.Cys279Ser) c.457T>A (p.Cys153Ser) c.460T>A (p.Cys154Ser) c.5-27034T>A (n.5-27034T>A) c.-43-16464T>A (n.-43-16464T>A) c.-99+34286T>A (n.-99+34286T>A) n.4280T>A n.4321T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43090986G>A | CA500123003 | BRCA1 | c.4143C>T (p.Asp1381=) c.4017C>T (p.Asp1339=) c.4140C>T (p.Asp1380=) c.4065C>T (p.Asp1355=) c.831C>T (p.Asp277=) c.693C>T (p.Asp231=) c.3255C>T (p.Asp1085=) c.4020C>T (p.Asp1340=) c.4002C>T (p.Asp1334=) c.711C>T (p.Asp237=) c.753C>T (p.Asp251=) c.464C>T c.717C>T (p.Asp239=) c.*3926C>T (n.*3926C>T) c.437C>T c.834C>T (p.Asp278=) c.456C>T (p.Asp152=) c.459C>T (p.Asp153=) c.5-27035C>T (n.5-27035C>T) c.-43-16465C>T (n.-43-16465C>T) c.-99+34285C>T (n.-99+34285C>T) n.4279C>T n.4320C>T | ClinVar dbSNP |
17 | g.43090986G>C | CA10593435 | BRCA1 | c.4143C>G (p.Asp1381Glu) c.4017C>G (p.Asp1339Glu) c.4140C>G (p.Asp1380Glu) c.4065C>G (p.Asp1355Glu) c.831C>G (p.Asp277Glu) c.693C>G (p.Asp231Glu) c.3255C>G (p.Asp1085Glu) c.4020C>G (p.Asp1340Glu) c.4002C>G (p.Asp1334Glu) c.711C>G (p.Asp237Glu) c.753C>G (p.Asp251Glu) c.464C>G c.717C>G (p.Asp239Glu) c.*3926C>G (n.*3926C>G) c.437C>G c.834C>G (p.Asp278Glu) c.456C>G (p.Asp152Glu) c.459C>G (p.Asp153Glu) c.5-27035C>G (n.5-27035C>G) c.-43-16465C>G (n.-43-16465C>G) c.-99+34285C>G (n.-99+34285C>G) n.4279C>G n.4320C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43090986G= | CA2260781679 | BRCA1 | c.4143C= (p.Asp1381=) c.4017C= (p.Asp1339=) c.4140C= (p.Asp1380=) c.4065C= (p.Asp1355=) c.831C= (p.Asp277=) c.693C= (p.Asp231=) c.3255C= (p.Asp1085=) c.4020C= (p.Asp1340=) c.4002C= (p.Asp1334=) c.711C= (p.Asp237=) c.753C= (p.Asp251=) c.464C= c.717C= (p.Asp239=) c.*3926C= (n.*3926C=) c.437C= c.834C= (p.Asp278=) c.456C= (p.Asp152=) c.459C= (p.Asp153=) c.5-27035C= (n.5-27035C=) c.-43-16465C= (n.-43-16465C=) c.-99+34285C= (n.-99+34285C=) n.4279C= n.4320C= | |
17 | g.43090986G>T | CA10593436 | BRCA1 | c.4143C>A (p.Asp1381Glu) c.4017C>A (p.Asp1339Glu) c.4140C>A (p.Asp1380Glu) c.4065C>A (p.Asp1355Glu) c.831C>A (p.Asp277Glu) c.693C>A (p.Asp231Glu) c.3255C>A (p.Asp1085Glu) c.4020C>A (p.Asp1340Glu) c.4002C>A (p.Asp1334Glu) c.711C>A (p.Asp237Glu) c.753C>A (p.Asp251Glu) c.464C>A c.717C>A (p.Asp239Glu) c.*3926C>A (n.*3926C>A) c.437C>A c.834C>A (p.Asp278Glu) c.456C>A (p.Asp152Glu) c.459C>A (p.Asp153Glu) c.5-27035C>A (n.5-27035C>A) c.-43-16465C>A (n.-43-16465C>A) c.-99+34285C>A (n.-99+34285C>A) n.4279C>A n.4320C>A | ClinVar |
17 | g.43090987T>A | CA10593437 | BRCA1 | c.4142A>T (p.Asp1381Val) c.4016A>T (p.Asp1339Val) c.4139A>T (p.Asp1380Val) c.4064A>T (p.Asp1355Val) c.830A>T (p.Asp277Val) c.692A>T (p.Asp231Val) c.3254A>T (p.Asp1085Val) c.4019A>T (p.Asp1340Val) c.4001A>T (p.Asp1334Val) c.710A>T (p.Asp237Val) c.752A>T (p.Asp251Val) c.463A>T c.716A>T (p.Asp239Val) c.*3925A>T (n.*3925A>T) c.436A>T c.833A>T (p.Asp278Val) c.455A>T (p.Asp152Val) c.458A>T (p.Asp153Val) c.5-27036A>T (n.5-27036A>T) c.-43-16466A>T (n.-43-16466A>T) c.-99+34284A>T (n.-99+34284A>T) n.4278A>T n.4319A>T | dbSNP |
17 | g.43090987T>C | CA10593438 | BRCA1 | c.4142A>G (p.Asp1381Gly) c.4016A>G (p.Asp1339Gly) c.4139A>G (p.Asp1380Gly) c.4064A>G (p.Asp1355Gly) c.830A>G (p.Asp277Gly) c.692A>G (p.Asp231Gly) c.3254A>G (p.Asp1085Gly) c.4019A>G (p.Asp1340Gly) c.4001A>G (p.Asp1334Gly) c.710A>G (p.Asp237Gly) c.752A>G (p.Asp251Gly) c.463A>G c.716A>G (p.Asp239Gly) c.*3925A>G (n.*3925A>G) c.436A>G c.833A>G (p.Asp278Gly) c.455A>G (p.Asp152Gly) c.458A>G (p.Asp153Gly) c.5-27036A>G (n.5-27036A>G) c.-43-16466A>G (n.-43-16466A>G) c.-99+34284A>G (n.-99+34284A>G) n.4278A>G n.4319A>G | dbSNP |
17 | g.43090987T>G | CA10593439 | BRCA1 | c.4142A>C (p.Asp1381Ala) c.4016A>C (p.Asp1339Ala) c.4139A>C (p.Asp1380Ala) c.4064A>C (p.Asp1355Ala) c.830A>C (p.Asp277Ala) c.692A>C (p.Asp231Ala) c.3254A>C (p.Asp1085Ala) c.4019A>C (p.Asp1340Ala) c.4001A>C (p.Asp1334Ala) c.710A>C (p.Asp237Ala) c.752A>C (p.Asp251Ala) c.463A>C c.716A>C (p.Asp239Ala) c.*3925A>C (n.*3925A>C) c.436A>C c.833A>C (p.Asp278Ala) c.455A>C (p.Asp152Ala) c.458A>C (p.Asp153Ala) c.5-27036A>C (n.5-27036A>C) c.-43-16466A>C (n.-43-16466A>C) c.-99+34284A>C (n.-99+34284A>C) n.4278A>C n.4319A>C | dbSNP |
17 | g.43090988C>A | CA10593440 | BRCA1 | c.4141G>T (p.Asp1381Tyr) c.4015G>T (p.Asp1339Tyr) c.4138G>T (p.Asp1380Tyr) c.4063G>T (p.Asp1355Tyr) c.829G>T (p.Asp277Tyr) c.691G>T (p.Asp231Tyr) c.3253G>T (p.Asp1085Tyr) c.4018G>T (p.Asp1340Tyr) c.4000G>T (p.Asp1334Tyr) c.709G>T (p.Asp237Tyr) c.751G>T (p.Asp251Tyr) c.462G>T c.715G>T (p.Asp239Tyr) c.*3924G>T (n.*3924G>T) c.435G>T c.832G>T (p.Asp278Tyr) c.454G>T (p.Asp152Tyr) c.457G>T (p.Asp153Tyr) c.5-27037G>T (n.5-27037G>T) c.-43-16467G>T (n.-43-16467G>T) c.-99+34283G>T (n.-99+34283G>T) n.4277G>T n.4318G>T | dbSNP |
17 | g.43090988C>G | CA10593441 | BRCA1 | c.4141G>C (p.Asp1381His) c.4015G>C (p.Asp1339His) c.4138G>C (p.Asp1380His) c.4063G>C (p.Asp1355His) c.829G>C (p.Asp277His) c.691G>C (p.Asp231His) c.3253G>C (p.Asp1085His) c.4018G>C (p.Asp1340His) c.4000G>C (p.Asp1334His) c.709G>C (p.Asp237His) c.751G>C (p.Asp251His) c.462G>C c.715G>C (p.Asp239His) c.*3924G>C (n.*3924G>C) c.435G>C c.832G>C (p.Asp278His) c.454G>C (p.Asp152His) c.457G>C (p.Asp153His) c.5-27037G>C (n.5-27037G>C) c.-43-16467G>C (n.-43-16467G>C) c.-99+34283G>C (n.-99+34283G>C) n.4277G>C n.4318G>C | dbSNP |
17 | g.43090988C>T | CA10593442 | BRCA1 | c.4141G>A (p.Asp1381Asn) c.4015G>A (p.Asp1339Asn) c.4138G>A (p.Asp1380Asn) c.4063G>A (p.Asp1355Asn) c.829G>A (p.Asp277Asn) c.691G>A (p.Asp231Asn) c.3253G>A (p.Asp1085Asn) c.4018G>A (p.Asp1340Asn) c.4000G>A (p.Asp1334Asn) c.709G>A (p.Asp237Asn) c.751G>A (p.Asp251Asn) c.462G>A c.715G>A (p.Asp239Asn) c.*3924G>A (n.*3924G>A) c.435G>A c.832G>A (p.Asp278Asn) c.454G>A (p.Asp152Asn) c.457G>A (p.Asp153Asn) c.5-27037G>A (n.5-27037G>A) c.-43-16467G>A (n.-43-16467G>A) c.-99+34283G>A (n.-99+34283G>A) n.4277G>A n.4318G>A | dbSNP |
17 | g.43090988_43090990delinsCTT | CA2260781680 | BRCA1 | c.4139_4141delinsAAG (p.Glu1380=) c.4013_4015delinsAAG (p.Glu1338=) c.4136_4138delinsAAG (p.Glu1379=) c.4061_4063delinsAAG (p.Glu1354=) c.827_829delinsAAG (p.Glu276=) c.689_691delinsAAG (p.Glu230=) c.3251_3253delinsAAG (p.Glu1084=) c.4016_4018delinsAAG (p.Glu1339=) c.3998_4000delinsAAG (p.Glu1333=) c.707_709delinsAAG (p.Glu236=) c.749_751delinsAAG (p.Glu250=) c.460_462delinsAAG c.713_715delinsAAG (p.Glu238=) c.*3922_*3924delinsAAG (n.*3922_*3924delinsAAG) c.433_435delinsAAG c.830_832delinsAAG (p.Glu277=) c.452_454delinsAAG (p.Glu151=) c.455_457delinsAAG (p.Glu152=) c.5-27039_5-27037delinsAAG (n.5-27039_5-27037delinsAAG) c.-43-16469_-43-16467delinsAAG (n.-43-16469_-43-16467delinsAAG) c.-99+34281_-99+34283delinsAAG (n.-99+34281_-99+34283delinsAAG) n.4275_4277delinsAAG n.4316_4318delinsAAG | |
17 | g.43090989T>A | CA10593443 | BRCA1 | c.4140A>T (p.Glu1380Asp) c.4014A>T (p.Glu1338Asp) c.4137A>T (p.Glu1379Asp) c.4062A>T (p.Glu1354Asp) c.828A>T (p.Glu276Asp) c.690A>T (p.Glu230Asp) c.3252A>T (p.Glu1084Asp) c.4017A>T (p.Glu1339Asp) c.3999A>T (p.Glu1333Asp) c.708A>T (p.Glu236Asp) c.750A>T (p.Glu250Asp) c.461A>T c.714A>T (p.Glu238Asp) c.*3923A>T (n.*3923A>T) c.434A>T c.831A>T (p.Glu277Asp) c.453A>T (p.Glu151Asp) c.456A>T (p.Glu152Asp) c.5-27038A>T (n.5-27038A>T) c.-43-16468A>T (n.-43-16468A>T) c.-99+34282A>T (n.-99+34282A>T) n.4276A>T n.4317A>T | dbSNP |
17 | g.43090989T>C | CA500123014 | BRCA1 | c.4140A>G (p.Glu1380=) c.4014A>G (p.Glu1338=) c.4137A>G (p.Glu1379=) c.4062A>G (p.Glu1354=) c.828A>G (p.Glu276=) c.690A>G (p.Glu230=) c.3252A>G (p.Glu1084=) c.4017A>G (p.Glu1339=) c.3999A>G (p.Glu1333=) c.708A>G (p.Glu236=) c.750A>G (p.Glu250=) c.461A>G c.714A>G (p.Glu238=) c.*3923A>G (n.*3923A>G) c.434A>G c.831A>G (p.Glu277=) c.453A>G (p.Glu151=) c.456A>G (p.Glu152=) c.5-27038A>G (n.5-27038A>G) c.-43-16468A>G (n.-43-16468A>G) c.-99+34282A>G (n.-99+34282A>G) n.4276A>G n.4317A>G | dbSNP |
17 | g.43090989T>G | CA10593444 | BRCA1 | c.4140A>C (p.Glu1380Asp) c.4014A>C (p.Glu1338Asp) c.4137A>C (p.Glu1379Asp) c.4062A>C (p.Glu1354Asp) c.828A>C (p.Glu276Asp) c.690A>C (p.Glu230Asp) c.3252A>C (p.Glu1084Asp) c.4017A>C (p.Glu1339Asp) c.3999A>C (p.Glu1333Asp) c.708A>C (p.Glu236Asp) c.750A>C (p.Glu250Asp) c.461A>C c.714A>C (p.Glu238Asp) c.*3923A>C (n.*3923A>C) c.434A>C c.831A>C (p.Glu277Asp) c.453A>C (p.Glu151Asp) c.456A>C (p.Glu152Asp) c.5-27038A>C (n.5-27038A>C) c.-43-16468A>C (n.-43-16468A>C) c.-99+34282A>C (n.-99+34282A>C) n.4276A>C n.4317A>C | |
17 | g.43090989_43090990del | CA10586611 | BRCA1 | c.4139_4140del (p.Glu1380GlyfsTer10) c.4013_4014del (p.Glu1338GlyfsTer10) c.4136_4137del (p.Glu1379GlyfsTer10) c.4061_4062del (p.Glu1354GlyfsTer10) c.827_828del (p.Glu276GlyfsTer10) c.689_690del (p.Glu230GlyfsTer10) c.3251_3252del (p.Glu1084GlyfsTer10) c.4016_4017del (p.Glu1339GlyfsTer10) c.3998_3999del (p.Glu1333GlyfsTer10) c.707_708del (p.Glu236GlyfsTer10) c.749_750del (p.Glu250GlyfsTer10) c.460_461del c.713_714del (p.Glu238GlyfsTer10) c.*3922_*3923del (n.*3922_*3923del) c.433_434del c.830_831del (p.Glu277GlyfsTer10) c.452_453del (p.Glu151GlyfsTer10) c.455_456del (p.Glu152GlyfsTer10) c.5-27039_5-27038del (n.5-27039_5-27038del) c.-43-16469_-43-16468del (n.-43-16469_-43-16468del) c.-99+34281_-99+34282del (n.-99+34281_-99+34282del) n.4275_4276del n.4316_4317del | ClinVar dbSNP |
17 | g.43090990T>A | CA10593445 | BRCA1 | c.4139A>T (p.Glu1380Val) c.4013A>T (p.Glu1338Val) c.4136A>T (p.Glu1379Val) c.4061A>T (p.Glu1354Val) c.827A>T (p.Glu276Val) c.689A>T (p.Glu230Val) c.3251A>T (p.Glu1084Val) c.4016A>T (p.Glu1339Val) c.3998A>T (p.Glu1333Val) c.707A>T (p.Glu236Val) c.749A>T (p.Glu250Val) c.460A>T c.713A>T (p.Glu238Val) c.*3922A>T (n.*3922A>T) c.433A>T c.830A>T (p.Glu277Val) c.452A>T (p.Glu151Val) c.455A>T (p.Glu152Val) c.5-27039A>T (n.5-27039A>T) c.-43-16469A>T (n.-43-16469A>T) c.-99+34281A>T (n.-99+34281A>T) n.4275A>T n.4316A>T | |
17 | g.43090990T>C | CA10593446 | BRCA1 | c.4139A>G (p.Glu1380Gly) c.4013A>G (p.Glu1338Gly) c.4136A>G (p.Glu1379Gly) c.4061A>G (p.Glu1354Gly) c.827A>G (p.Glu276Gly) c.689A>G (p.Glu230Gly) c.3251A>G (p.Glu1084Gly) c.4016A>G (p.Glu1339Gly) c.3998A>G (p.Glu1333Gly) c.707A>G (p.Glu236Gly) c.749A>G (p.Glu250Gly) c.460A>G c.713A>G (p.Glu238Gly) c.*3922A>G (n.*3922A>G) c.433A>G c.830A>G (p.Glu277Gly) c.452A>G (p.Glu151Gly) c.455A>G (p.Glu152Gly) c.5-27039A>G (n.5-27039A>G) c.-43-16469A>G (n.-43-16469A>G) c.-99+34281A>G (n.-99+34281A>G) n.4275A>G n.4316A>G | |
17 | g.43090990T>G | CA10593447 | BRCA1 | c.4139A>C (p.Glu1380Ala) c.4013A>C (p.Glu1338Ala) c.4136A>C (p.Glu1379Ala) c.4061A>C (p.Glu1354Ala) c.827A>C (p.Glu276Ala) c.689A>C (p.Glu230Ala) c.3251A>C (p.Glu1084Ala) c.4016A>C (p.Glu1339Ala) c.3998A>C (p.Glu1333Ala) c.707A>C (p.Glu236Ala) c.749A>C (p.Glu250Ala) c.460A>C c.713A>C (p.Glu238Ala) c.*3922A>C (n.*3922A>C) c.433A>C c.830A>C (p.Glu277Ala) c.452A>C (p.Glu151Ala) c.455A>C (p.Glu152Ala) c.5-27039A>C (n.5-27039A>C) c.-43-16469A>C (n.-43-16469A>C) c.-99+34281A>C (n.-99+34281A>C) n.4275A>C n.4316A>C | |
17 | g.43090990_43090992delinsTCA | CA2260781681 | BRCA1 | c.4137_4139delinsTGA (p.Ser1379=) c.4011_4013delinsTGA (p.Ser1337=) c.4134_4136delinsTGA (p.Ser1378=) c.4059_4061delinsTGA (p.Ser1353=) c.825_827delinsTGA (p.Ser275=) c.687_689delinsTGA (p.Ser229=) c.3249_3251delinsTGA (p.Ser1083=) c.4014_4016delinsTGA (p.Ser1338=) c.3996_3998delinsTGA (p.Ser1332=) c.705_707delinsTGA (p.Ser235=) c.747_749delinsTGA (p.Ser249=) c.458_460delinsTGA c.711_713delinsTGA (p.Ser237=) c.*3920_*3922delinsTGA (n.*3920_*3922delinsTGA) c.431_433delinsTGA c.828_830delinsTGA (p.Ser276=) c.450_452delinsTGA (p.Ser150=) c.453_455delinsTGA (p.Ser151=) c.5-27041_5-27039delinsTGA (n.5-27041_5-27039delinsTGA) c.-43-16471_-43-16469delinsTGA (n.-43-16471_-43-16469delinsTGA) c.-99+34279_-99+34281delinsTGA (n.-99+34279_-99+34281delinsTGA) n.4273_4275delinsTGA n.4314_4316delinsTGA | |
17 | g.43090991C>A | CA10593448 | BRCA1 | c.4138G>T (p.Glu1380Ter) c.4012G>T (p.Glu1338Ter) c.4135G>T (p.Glu1379Ter) c.4060G>T (p.Glu1354Ter) c.826G>T (p.Glu276Ter) c.688G>T (p.Glu230Ter) c.3250G>T (p.Glu1084Ter) c.4015G>T (p.Glu1339Ter) c.3997G>T (p.Glu1333Ter) c.706G>T (p.Glu236Ter) c.748G>T (p.Glu250Ter) c.459G>T c.712G>T (p.Glu238Ter) c.*3921G>T (n.*3921G>T) c.432G>T c.829G>T (p.Glu277Ter) c.451G>T (p.Glu151Ter) c.454G>T (p.Glu152Ter) c.5-27040G>T (n.5-27040G>T) c.-43-16470G>T (n.-43-16470G>T) c.-99+34280G>T (n.-99+34280G>T) n.4274G>T n.4315G>T | dbSNP |
17 | g.43090991C= | CA2260781684 | BRCA1 | c.4138G= (p.Glu1380=) c.4012G= (p.Glu1338=) c.4135G= (p.Glu1379=) c.4060G= (p.Glu1354=) c.826G= (p.Glu276=) c.688G= (p.Glu230=) c.3250G= (p.Glu1084=) c.4015G= (p.Glu1339=) c.3997G= (p.Glu1333=) c.706G= (p.Glu236=) c.748G= (p.Glu250=) c.459G= c.712G= (p.Glu238=) c.*3921G= (n.*3921G=) c.432G= c.829G= (p.Glu277=) c.451G= (p.Glu151=) c.454G= (p.Glu152=) c.5-27040G= (n.5-27040G=) c.-43-16470G= (n.-43-16470G=) c.-99+34280G= (n.-99+34280G=) n.4274G= n.4315G= | |
17 | g.43090991C>G | CA10593449 | BRCA1 | c.4138G>C (p.Glu1380Gln) c.4012G>C (p.Glu1338Gln) c.4135G>C (p.Glu1379Gln) c.4060G>C (p.Glu1354Gln) c.826G>C (p.Glu276Gln) c.688G>C (p.Glu230Gln) c.3250G>C (p.Glu1084Gln) c.4015G>C (p.Glu1339Gln) c.3997G>C (p.Glu1333Gln) c.706G>C (p.Glu236Gln) c.748G>C (p.Glu250Gln) c.459G>C c.712G>C (p.Glu238Gln) c.*3921G>C (n.*3921G>C) c.432G>C c.829G>C (p.Glu277Gln) c.451G>C (p.Glu151Gln) c.454G>C (p.Glu152Gln) c.5-27040G>C (n.5-27040G>C) c.-43-16470G>C (n.-43-16470G>C) c.-99+34280G>C (n.-99+34280G>C) n.4274G>C n.4315G>C | dbSNP |
17 | g.43090991C>T | CA10593450 | BRCA1 | c.4138G>A (p.Glu1380Lys) c.4012G>A (p.Glu1338Lys) c.4135G>A (p.Glu1379Lys) c.4060G>A (p.Glu1354Lys) c.826G>A (p.Glu276Lys) c.688G>A (p.Glu230Lys) c.3250G>A (p.Glu1084Lys) c.4015G>A (p.Glu1339Lys) c.3997G>A (p.Glu1333Lys) c.706G>A (p.Glu236Lys) c.748G>A (p.Glu250Lys) c.459G>A c.712G>A (p.Glu238Lys) c.*3921G>A (n.*3921G>A) c.432G>A c.829G>A (p.Glu277Lys) c.451G>A (p.Glu151Lys) c.454G>A (p.Glu152Lys) c.5-27040G>A (n.5-27040G>A) c.-43-16470G>A (n.-43-16470G>A) c.-99+34280G>A (n.-99+34280G>A) n.4274G>A n.4315G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43090991dup | CA2697559874 | BRCA1 | c.4138dup (p.Glu1380GlyfsTer11) c.4012dup (p.Glu1338GlyfsTer11) c.4135dup (p.Glu1379GlyfsTer11) c.4060dup (p.Glu1354GlyfsTer11) c.826dup (p.Glu276GlyfsTer11) c.688dup (p.Glu230GlyfsTer11) c.3250dup (p.Glu1084GlyfsTer11) c.4015dup (p.Glu1339GlyfsTer11) c.3997dup (p.Glu1333GlyfsTer11) c.706dup (p.Glu236GlyfsTer11) c.748dup (p.Glu250GlyfsTer11) c.459dup c.712dup (p.Glu238GlyfsTer11) c.*3921dup (n.*3921dup) c.432dup c.829dup (p.Glu277GlyfsTer11) c.451dup (p.Glu151GlyfsTer11) c.454dup (p.Glu152GlyfsTer11) c.5-27040dup (n.5-27040dup) c.-43-16470dup (n.-43-16470dup) c.-99+34280dup (n.-99+34280dup) n.4274dup n.4315dup | ClinVar |
17 | g.43090991_43090992del | CA10589686 | BRCA1 | c.4137_4138del (p.Glu1380ArgfsTer10) c.4011_4012del (p.Glu1338ArgfsTer10) c.4134_4135del (p.Glu1379ArgfsTer10) c.4059_4060del (p.Glu1354ArgfsTer10) c.825_826del (p.Glu276ArgfsTer10) c.687_688del (p.Glu230ArgfsTer10) c.3249_3250del (p.Glu1084ArgfsTer10) c.4014_4015del (p.Glu1339ArgfsTer10) c.3996_3997del (p.Glu1333ArgfsTer10) c.705_706del (p.Glu236ArgfsTer10) c.747_748del (p.Glu250ArgfsTer10) c.458_459del c.711_712del (p.Glu238ArgfsTer10) c.*3920_*3921del (n.*3920_*3921del) c.431_432del c.828_829del (p.Glu277ArgfsTer10) c.450_451del (p.Glu151ArgfsTer10) c.453_454del (p.Glu152ArgfsTer10) c.5-27041_5-27040del (n.5-27041_5-27040del) c.-43-16471_-43-16470del (n.-43-16471_-43-16470del) c.-99+34279_-99+34280del (n.-99+34279_-99+34280del) n.4273_4274del n.4314_4315del | ClinVar dbSNP gnomAD v4 |
17 | g.43090991_43090992delinsCA | CA2260781683 | BRCA1 | c.4137_4138delinsTG (p.Ser1379=) c.4011_4012delinsTG (p.Ser1337=) c.4134_4135delinsTG (p.Ser1378=) c.4059_4060delinsTG (p.Ser1353=) c.825_826delinsTG (p.Ser275=) c.687_688delinsTG (p.Ser229=) c.3249_3250delinsTG (p.Ser1083=) c.4014_4015delinsTG (p.Ser1338=) c.3996_3997delinsTG (p.Ser1332=) c.705_706delinsTG (p.Ser235=) c.747_748delinsTG (p.Ser249=) c.458_459delinsTG c.711_712delinsTG (p.Ser237=) c.*3920_*3921delinsTG (n.*3920_*3921delinsTG) c.431_432delinsTG c.828_829delinsTG (p.Ser276=) c.450_451delinsTG (p.Ser150=) c.453_454delinsTG (p.Ser151=) c.5-27041_5-27040delinsTG (n.5-27041_5-27040delinsTG) c.-43-16471_-43-16470delinsTG (n.-43-16471_-43-16470delinsTG) c.-99+34279_-99+34280delinsTG (n.-99+34279_-99+34280delinsTG) n.4273_4274delinsTG n.4314_4315delinsTG | |
17 | g.43090991_43090993delinsCAG | CA2260781682 | BRCA1 | c.4136_4138delinsCTG (p.Ser1379=) c.4010_4012delinsCTG (p.Ser1337=) c.4133_4135delinsCTG (p.Ser1378=) c.4058_4060delinsCTG (p.Ser1353=) c.824_826delinsCTG (p.Ser275=) c.686_688delinsCTG (p.Ser229=) c.3248_3250delinsCTG (p.Ser1083=) c.4013_4015delinsCTG (p.Ser1338=) c.3995_3997delinsCTG (p.Ser1332=) c.704_706delinsCTG (p.Ser235=) c.746_748delinsCTG (p.Ser249=) c.457_459delinsCTG c.710_712delinsCTG (p.Ser237=) c.*3919_*3921delinsCTG (n.*3919_*3921delinsCTG) c.430_432delinsCTG c.827_829delinsCTG (p.Ser276=) c.449_451delinsCTG (p.Ser150=) c.452_454delinsCTG (p.Ser151=) c.5-27042_5-27040delinsCTG (n.5-27042_5-27040delinsCTG) c.-43-16472_-43-16470delinsCTG (n.-43-16472_-43-16470delinsCTG) c.-99+34278_-99+34280delinsCTG (n.-99+34278_-99+34280delinsCTG) n.4272_4274delinsCTG n.4313_4315delinsCTG | |
17 | g.43090992del | CA16620426 | BRCA1 | c.4137del (p.Glu1380LysfsTer13) c.4011del (p.Glu1338LysfsTer13) c.4134del (p.Glu1379LysfsTer13) c.4059del (p.Glu1354LysfsTer13) c.825del (p.Glu276LysfsTer13) c.687del (p.Glu230LysfsTer13) c.3249del (p.Glu1084LysfsTer13) c.4014del (p.Glu1339LysfsTer13) c.3996del (p.Glu1333LysfsTer13) c.705del (p.Glu236LysfsTer13) c.747del (p.Glu250LysfsTer13) c.458del c.711del (p.Glu238LysfsTer13) c.*3920del (n.*3920del) c.431del c.828del (p.Glu277LysfsTer13) c.450del (p.Glu151LysfsTer13) c.453del (p.Glu152LysfsTer13) c.5-27041del (n.5-27041del) c.-43-16471del (n.-43-16471del) c.-99+34279del (n.-99+34279del) n.4273del n.4314del | ClinVar dbSNP |
17 | g.43090992A= | CA2260781685 | BRCA1 | c.4137T= (p.Ser1379=) c.4011T= (p.Ser1337=) c.4134T= (p.Ser1378=) c.4059T= (p.Ser1353=) c.825T= (p.Ser275=) c.687T= (p.Ser229=) c.3249T= (p.Ser1083=) c.4014T= (p.Ser1338=) c.3996T= (p.Ser1332=) c.705T= (p.Ser235=) c.747T= (p.Ser249=) c.458T= c.711T= (p.Ser237=) c.*3920T= (n.*3920T=) c.431T= c.828T= (p.Ser276=) c.450T= (p.Ser150=) c.453T= (p.Ser151=) c.5-27041T= (n.5-27041T=) c.-43-16471T= (n.-43-16471T=) c.-99+34279T= (n.-99+34279T=) n.4273T= n.4314T= | |
17 | g.43090992A>C | CA500123023 | BRCA1 | c.4137T>G (p.Ser1379=) c.4011T>G (p.Ser1337=) c.4134T>G (p.Ser1378=) c.4059T>G (p.Ser1353=) c.825T>G (p.Ser275=) c.687T>G (p.Ser229=) c.3249T>G (p.Ser1083=) c.4014T>G (p.Ser1338=) c.3996T>G (p.Ser1332=) c.705T>G (p.Ser235=) c.747T>G (p.Ser249=) c.458T>G c.711T>G (p.Ser237=) c.*3920T>G (n.*3920T>G) c.431T>G c.828T>G (p.Ser276=) c.450T>G (p.Ser150=) c.453T>G (p.Ser151=) c.5-27041T>G (n.5-27041T>G) c.-43-16471T>G (n.-43-16471T>G) c.-99+34279T>G (n.-99+34279T>G) n.4273T>G n.4314T>G | |
17 | g.43090992A>G | CA16607616 | BRCA1 | c.4137T>C (p.Ser1379=) c.4011T>C (p.Ser1337=) c.4134T>C (p.Ser1378=) c.4059T>C (p.Ser1353=) c.825T>C (p.Ser275=) c.687T>C (p.Ser229=) c.3249T>C (p.Ser1083=) c.4014T>C (p.Ser1338=) c.3996T>C (p.Ser1332=) c.705T>C (p.Ser235=) c.747T>C (p.Ser249=) c.458T>C c.711T>C (p.Ser237=) c.*3920T>C (n.*3920T>C) c.431T>C c.828T>C (p.Ser276=) c.450T>C (p.Ser150=) c.453T>C (p.Ser151=) c.5-27041T>C (n.5-27041T>C) c.-43-16471T>C (n.-43-16471T>C) c.-99+34279T>C (n.-99+34279T>C) n.4273T>C n.4314T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43090992A>T | CA500123025 | BRCA1 | c.4137T>A (p.Ser1379=) c.4011T>A (p.Ser1337=) c.4134T>A (p.Ser1378=) c.4059T>A (p.Ser1353=) c.825T>A (p.Ser275=) c.687T>A (p.Ser229=) c.3249T>A (p.Ser1083=) c.4014T>A (p.Ser1338=) c.3996T>A (p.Ser1332=) c.705T>A (p.Ser235=) c.747T>A (p.Ser249=) c.458T>A c.711T>A (p.Ser237=) c.*3920T>A (n.*3920T>A) c.431T>A c.828T>A (p.Ser276=) c.450T>A (p.Ser150=) c.453T>A (p.Ser151=) c.5-27041T>A (n.5-27041T>A) c.-43-16471T>A (n.-43-16471T>A) c.-99+34279T>A (n.-99+34279T>A) n.4273T>A n.4314T>A | dbSNP |
17 | g.43090995_43090996del | CA002654 | BRCA1 | c.4136_4137del (p.Ser1379Ter) c.4010_4011del (p.Ser1337Ter) c.4133_4134del (p.Ser1378Ter) c.4058_4059del (p.Ser1353Ter) c.824_825del (p.Ser275Ter) c.686_687del (p.Ser229Ter) c.3248_3249del (p.Ser1083Ter) c.4013_4014del (p.Ser1338Ter) c.3995_3996del (p.Ser1332Ter) c.704_705del (p.Ser235Ter) c.746_747del (p.Ser249Ter) c.457_458del c.710_711del (p.Ser237Ter) c.*3919_*3920del (n.*3919_*3920del) c.430_431del c.827_828del (p.Ser276Ter) c.449_450del (p.Ser150Ter) c.452_453del (p.Ser151Ter) c.5-27042_5-27041del (n.5-27042_5-27041del) c.-43-16472_-43-16471del (n.-43-16472_-43-16471del) c.-99+34278_-99+34279del (n.-99+34278_-99+34279del) n.4272_4273del n.4313_4314del | ClinVar dbSNP |
17 | g.43090993G>A | CA10593451 | BRCA1 | c.4136C>T (p.Ser1379Phe) c.4010C>T (p.Ser1337Phe) c.4133C>T (p.Ser1378Phe) c.4058C>T (p.Ser1353Phe) c.824C>T (p.Ser275Phe) c.686C>T (p.Ser229Phe) c.3248C>T (p.Ser1083Phe) c.4013C>T (p.Ser1338Phe) c.3995C>T (p.Ser1332Phe) c.704C>T (p.Ser235Phe) c.746C>T (p.Ser249Phe) c.457C>T c.710C>T (p.Ser237Phe) c.*3919C>T (n.*3919C>T) c.430C>T c.827C>T (p.Ser276Phe) c.449C>T (p.Ser150Phe) c.452C>T (p.Ser151Phe) c.5-27042C>T (n.5-27042C>T) c.-43-16472C>T (n.-43-16472C>T) c.-99+34278C>T (n.-99+34278C>T) n.4272C>T n.4313C>T | dbSNP |
17 | g.43090993G>C | CA10593452 | BRCA1 | c.4136C>G (p.Ser1379Cys) c.4010C>G (p.Ser1337Cys) c.4133C>G (p.Ser1378Cys) c.4058C>G (p.Ser1353Cys) c.824C>G (p.Ser275Cys) c.686C>G (p.Ser229Cys) c.3248C>G (p.Ser1083Cys) c.4013C>G (p.Ser1338Cys) c.3995C>G (p.Ser1332Cys) c.704C>G (p.Ser235Cys) c.746C>G (p.Ser249Cys) c.457C>G c.710C>G (p.Ser237Cys) c.*3919C>G (n.*3919C>G) c.430C>G c.827C>G (p.Ser276Cys) c.449C>G (p.Ser150Cys) c.452C>G (p.Ser151Cys) c.5-27042C>G (n.5-27042C>G) c.-43-16472C>G (n.-43-16472C>G) c.-99+34278C>G (n.-99+34278C>G) n.4272C>G n.4313C>G | dbSNP |
17 | g.43090993G>T | CA10593453 | BRCA1 | c.4136C>A (p.Ser1379Tyr) c.4010C>A (p.Ser1337Tyr) c.4133C>A (p.Ser1378Tyr) c.4058C>A (p.Ser1353Tyr) c.824C>A (p.Ser275Tyr) c.686C>A (p.Ser229Tyr) c.3248C>A (p.Ser1083Tyr) c.4013C>A (p.Ser1338Tyr) c.3995C>A (p.Ser1332Tyr) c.704C>A (p.Ser235Tyr) c.746C>A (p.Ser249Tyr) c.457C>A c.710C>A (p.Ser237Tyr) c.*3919C>A (n.*3919C>A) c.430C>A c.827C>A (p.Ser276Tyr) c.449C>A (p.Ser150Tyr) c.452C>A (p.Ser151Tyr) c.5-27042C>A (n.5-27042C>A) c.-43-16472C>A (n.-43-16472C>A) c.-99+34278C>A (n.-99+34278C>A) n.4272C>A n.4313C>A |