Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.43070208_43078359dup	CA16043350	BRCA1	c.4358-1732_4983+736dup c.4358-1729_4986+736dup c.4232-1729_4860+736dup c.4352-1729_4980+736dup c.4280-1729_4908+736dup c.1046-1729_1674+736dup c.908-1729_1536+736dup c.3470-1729_4098+736dup c.4235-1729_4863+736dup c.4423+991_5052+736dup c.4217-1729_4845+736dup c.923-1732_1548+736dup c.4423+991_5049+736dup c.744+991_1373+736dup c.932-1729_1560+736dup c.4141-1729_4769+736dup c.1049-1732_1674+736dup c.671-1729_1299+736dup c.5-14392_5-6241dup (n.5-14392_5-6241dup) c.-43-3822_459+736dup c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup) n.4494-1729_5122+736dup n.4535-1729_5163+736dup
17	g.43070192_43078360dup	CA2580612611	BRCA1	c.4358-1749_4983+736dup c.4358-1746_4986+736dup c.4232-1746_4860+736dup c.4352-1746_4980+736dup c.4280-1746_4908+736dup c.1046-1746_1674+736dup c.908-1746_1536+736dup c.3470-1746_4098+736dup c.4235-1746_4863+736dup c.4423+974_5052+736dup c.4217-1746_4845+736dup c.923-1749_1548+736dup c.4423+974_5049+736dup c.744+974_1373+736dup c.932-1746_1560+736dup c.4141-1746_4769+736dup c.1049-1749_1674+736dup c.671-1746_1299+736dup c.5-14409_5-6241dup (n.5-14409_5-6241dup) c.-43-3839_459+736dup c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup) n.4494-1746_5122+736dup n.4535-1746_5163+736dup
17	g.43071198_43074416dup	CA658653641	BRCA1	c.4588_4714dup c.4591_4717dup c.4465_4591dup c.4585_4711dup c.4513_4639dup c.1279_1405dup c.1141_1267dup c.3703_3829dup c.4468_4594dup c.4657_4783dup c.4450_4576dup c.1153_1279dup c.1198_1324dup c.4654_4780dup c.978_1104dup c.1165_1291dup c.4374_4500dup c.904_1030dup c.5-10464_5-7246dup (n.5-10464_5-7246dup) c.64_190dup c.-98-24225_-98-21007dup (n.-98-24225_-98-21007dup) n.4727_4853dup n.4768_4894dup
17	g.43074328_43074519delinsTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATG	CA2260774412	BRCA1	c.4484_4672+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4487_4675+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4361_4549+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4481_4669+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4409_4597+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1175_1363+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1037_1225+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.3599_3787+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4364_4552+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4553_4741+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4346_4534+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1049_1237+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1094_1282+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4550_4738+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.874_1062+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.1061_1249+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.4270_4458+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.800_988+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.5-10568_5-10377delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA (n.5-10568_5-10377delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA) c.-41_148+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA c.-98-24329_-98-24138delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA (n.-98-24329_-98-24138delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA) n.4623_4811+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA n.4664_4852+3delinsCATCCCCTTCTAAATGCCCATCATTAGATGATAGGTGGTACATGCACAGTTGCTCTGGGAGTCTTCAGAATAGAAACTACCCATCTCAAGAGGAGCTCATTAAGGTTGTTGATGTGGAGGAGCAACAGCTGGAAGAGTCTGGGCCACACGATTTGACGGAAACATCTTACTTGCCAAGGCAAGATCTAGGTA
17	g.43074329_43074522del	CA2499224400	BRCA1	c.4482-1_4672+2del c.4485-1_4675+2del c.4359-1_4549+2del c.4479-1_4669+2del c.4407-1_4597+2del c.1173-1_1363+2del c.1035-1_1225+2del c.3597-1_3787+2del c.4362-1_4552+2del c.4551-1_4741+2del c.4344-1_4534+2del c.1047-1_1237+2del c.1092-1_1282+2del c.4548-1_4738+2del c.872-1_1062+2del c.1059-1_1249+2del c.4268-1_4458+2del c.798-1_988+2del c.5-10571_5-10378del (n.5-10571_5-10378del) c.-43-1_148+2del c.-98-24332_-98-24139del (n.-98-24332_-98-24139del) n.4621-1_4811+2del n.4662-1_4852+2del	ClinVar dbSNP
17	g.43074336_43074526del	CA645372633	BRCA1	c.4484_4672+2del c.4487_4675+2del c.4361_4549+2del c.4481_4669+2del c.4409_4597+2del c.1175_1363+2del c.1037_1225+2del c.3599_3787+2del c.4364_4552+2del c.4553_4741+2del c.4346_4534+2del c.1049_1237+2del c.1094_1282+2del c.4550_4738+2del c.874_1062+2del c.1061_1249+2del c.4270_4458+2del c.800_988+2del c.5-10568_5-10378del (n.5-10568_5-10378del) c.-41_148+2del c.-98-24329_-98-24139del (n.-98-24329_-98-24139del) n.4623_4811+2del n.4664_4852+2del	ClinVar dbSNP
17	g.43074333_43082577del	CA2581463402	BRCA1	c.4186_4672del c.4186_4675del c.4060_4549del c.4183-3_4669del c.4108_4597del c.874_1363del c.736_1225del c.3298_3787del c.4063_4552del c.4186_4741del c.4045_4534del c.754-3_1237del c.796_1282del c.4186_4738del c.507_1062del c.760_1249del c.3969_4458del c.877_1363del c.499_988del c.5-18624_5-10380del (n.5-18624_5-10380del) c.-43-8054_148del c.-98-32385_-98-24141del (n.-98-32385_-98-24141del) n.4322_4811del n.4363_4852del
17	g.43074368A=	CA2260774454	BRCA1	c.4635T= (p.Asp1545=) c.4638T= (p.Asp1546=) c.4512T= (p.Asp1504=) c.4632T= (p.Asp1544=) c.4560T= (p.Asp1520=) c.1326T= (p.Asp442=) c.1188T= (p.Asp396=) c.3750T= (p.Asp1250=) c.4515T= (p.Asp1505=) c.4704T= (p.Asp1568=) c.4497T= (p.Asp1499=) c.1200T= (p.Asp400=) c.1245T= (p.Asp415=) c.4701T= (p.Asp1567=) c.1025T= c.1212T= (p.Asp404=) c.4421T= (n.4421T=) c.951T= (p.Asp317=) c.5-10417T= (n.5-10417T=) c.111T= (p.Asp37=) c.-98-24178T= (n.-98-24178T=) n.4774T= n.4815T=
17	g.43074368A>C	CA002938	BRCA1	c.4635T>G (p.Asp1545Glu) c.4638T>G (p.Asp1546Glu) c.4512T>G (p.Asp1504Glu) c.4632T>G (p.Asp1544Glu) c.4560T>G (p.Asp1520Glu) c.1326T>G (p.Asp442Glu) c.1188T>G (p.Asp396Glu) c.3750T>G (p.Asp1250Glu) c.4515T>G (p.Asp1505Glu) c.4704T>G (p.Asp1568Glu) c.4497T>G (p.Asp1499Glu) c.1200T>G (p.Asp400Glu) c.1245T>G (p.Asp415Glu) c.4701T>G (p.Asp1567Glu) c.1025T>G c.1212T>G (p.Asp404Glu) c.4421T>G (n.4421T>G) c.951T>G (p.Asp317Glu) c.5-10417T>G (n.5-10417T>G) c.111T>G (p.Asp37Glu) c.-98-24178T>G (n.-98-24178T>G) n.4774T>G n.4815T>G	ClinVar dbSNP
17	g.43074368A>G	CA500146532	BRCA1	c.4635T>C (p.Asp1545=) c.4638T>C (p.Asp1546=) c.4512T>C (p.Asp1504=) c.4632T>C (p.Asp1544=) c.4560T>C (p.Asp1520=) c.1326T>C (p.Asp442=) c.1188T>C (p.Asp396=) c.3750T>C (p.Asp1250=) c.4515T>C (p.Asp1505=) c.4704T>C (p.Asp1568=) c.4497T>C (p.Asp1499=) c.1200T>C (p.Asp400=) c.1245T>C (p.Asp415=) c.4701T>C (p.Asp1567=) c.1025T>C c.1212T>C (p.Asp404=) c.4421T>C (n.4421T>C) c.951T>C (p.Asp317=) c.5-10417T>C (n.5-10417T>C) c.111T>C (p.Asp37=) c.-98-24178T>C (n.-98-24178T>C) n.4774T>C n.4815T>C
17	g.43074368A>T	CA10592235	BRCA1	c.4635T>A (p.Asp1545Glu) c.4638T>A (p.Asp1546Glu) c.4512T>A (p.Asp1504Glu) c.4632T>A (p.Asp1544Glu) c.4560T>A (p.Asp1520Glu) c.1326T>A (p.Asp442Glu) c.1188T>A (p.Asp396Glu) c.3750T>A (p.Asp1250Glu) c.4515T>A (p.Asp1505Glu) c.4704T>A (p.Asp1568Glu) c.4497T>A (p.Asp1499Glu) c.1200T>A (p.Asp400Glu) c.1245T>A (p.Asp415Glu) c.4701T>A (p.Asp1567Glu) c.1025T>A c.1212T>A (p.Asp404Glu) c.4421T>A (n.4421T>A) c.951T>A (p.Asp317Glu) c.5-10417T>A (n.5-10417T>A) c.111T>A (p.Asp37Glu) c.-98-24178T>A (n.-98-24178T>A) n.4774T>A n.4815T>A	dbSNP
17	g.43074369T>A	CA10592236	BRCA1	c.4634A>T (p.Asp1545Val) c.4637A>T (p.Asp1546Val) c.4511A>T (p.Asp1504Val) c.4631A>T (p.Asp1544Val) c.4559A>T (p.Asp1520Val) c.1325A>T (p.Asp442Val) c.1187A>T (p.Asp396Val) c.3749A>T (p.Asp1250Val) c.4514A>T (p.Asp1505Val) c.4703A>T (p.Asp1568Val) c.4496A>T (p.Asp1499Val) c.1199A>T (p.Asp400Val) c.1244A>T (p.Asp415Val) c.4700A>T (p.Asp1567Val) c.1024A>T c.1211A>T (p.Asp404Val) c.4420A>T (n.4420A>T) c.950A>T (p.Asp317Val) c.5-10418A>T (n.5-10418A>T) c.110A>T (p.Asp37Val) c.-98-24179A>T (n.-98-24179A>T) n.4773A>T n.4814A>T	dbSNP
17	g.43074369T>C	CA10592237	BRCA1	c.4634A>G (p.Asp1545Gly) c.4637A>G (p.Asp1546Gly) c.4511A>G (p.Asp1504Gly) c.4631A>G (p.Asp1544Gly) c.4559A>G (p.Asp1520Gly) c.1325A>G (p.Asp442Gly) c.1187A>G (p.Asp396Gly) c.3749A>G (p.Asp1250Gly) c.4514A>G (p.Asp1505Gly) c.4703A>G (p.Asp1568Gly) c.4496A>G (p.Asp1499Gly) c.1199A>G (p.Asp400Gly) c.1244A>G (p.Asp415Gly) c.4700A>G (p.Asp1567Gly) c.1024A>G c.1211A>G (p.Asp404Gly) c.4420A>G (n.4420A>G) c.950A>G (p.Asp317Gly) c.5-10418A>G (n.5-10418A>G) c.110A>G (p.Asp37Gly) c.-98-24179A>G (n.-98-24179A>G) n.4773A>G n.4814A>G
17	g.43074369T>G	CA10592238	BRCA1	c.4634A>C (p.Asp1545Ala) c.4637A>C (p.Asp1546Ala) c.4511A>C (p.Asp1504Ala) c.4631A>C (p.Asp1544Ala) c.4559A>C (p.Asp1520Ala) c.1325A>C (p.Asp442Ala) c.1187A>C (p.Asp396Ala) c.3749A>C (p.Asp1250Ala) c.4514A>C (p.Asp1505Ala) c.4703A>C (p.Asp1568Ala) c.4496A>C (p.Asp1499Ala) c.1199A>C (p.Asp400Ala) c.1244A>C (p.Asp415Ala) c.4700A>C (p.Asp1567Ala) c.1024A>C c.1211A>C (p.Asp404Ala) c.4420A>C (n.4420A>C) c.950A>C (p.Asp317Ala) c.5-10418A>C (n.5-10418A>C) c.110A>C (p.Asp37Ala) c.-98-24179A>C (n.-98-24179A>C) n.4773A>C n.4814A>C	dbSNP
17	g.43074370C>A	CA002937	BRCA1	c.4633G>T (p.Asp1545Tyr) c.4636G>T (p.Asp1546Tyr) c.4510G>T (p.Asp1504Tyr) c.4630G>T (p.Asp1544Tyr) c.4558G>T (p.Asp1520Tyr) c.1324G>T (p.Asp442Tyr) c.1186G>T (p.Asp396Tyr) c.3748G>T (p.Asp1250Tyr) c.4513G>T (p.Asp1505Tyr) c.4702G>T (p.Asp1568Tyr) c.4495G>T (p.Asp1499Tyr) c.1198G>T (p.Asp400Tyr) c.1243G>T (p.Asp415Tyr) c.4699G>T (p.Asp1567Tyr) c.1023G>T c.1210G>T (p.Asp404Tyr) c.4419G>T (n.4419G>T) c.949G>T (p.Asp317Tyr) c.5-10419G>T (n.5-10419G>T) c.109G>T (p.Asp37Tyr) c.-98-24180G>T (n.-98-24180G>T) n.4772G>T n.4813G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43074370C=	CA2260774455	BRCA1	c.4633G= (p.Asp1545=) c.4636G= (p.Asp1546=) c.4510G= (p.Asp1504=) c.4630G= (p.Asp1544=) c.4558G= (p.Asp1520=) c.1324G= (p.Asp442=) c.1186G= (p.Asp396=) c.3748G= (p.Asp1250=) c.4513G= (p.Asp1505=) c.4702G= (p.Asp1568=) c.4495G= (p.Asp1499=) c.1198G= (p.Asp400=) c.1243G= (p.Asp415=) c.4699G= (p.Asp1567=) c.1023G= c.1210G= (p.Asp404=) c.4419G= (n.4419G=) c.949G= (p.Asp317=) c.5-10419G= (n.5-10419G=) c.109G= (p.Asp37=) c.-98-24180G= (n.-98-24180G=) n.4772G= n.4813G=
17	g.43074370C>G	CA052607	BRCA1	c.4633G>C (p.Asp1545His) c.4636G>C (p.Asp1546His) c.4510G>C (p.Asp1504His) c.4630G>C (p.Asp1544His) c.4558G>C (p.Asp1520His) c.1324G>C (p.Asp442His) c.1186G>C (p.Asp396His) c.3748G>C (p.Asp1250His) c.4513G>C (p.Asp1505His) c.4702G>C (p.Asp1568His) c.4495G>C (p.Asp1499His) c.1198G>C (p.Asp400His) c.1243G>C (p.Asp415His) c.4699G>C (p.Asp1567His) c.1023G>C c.1210G>C (p.Asp404His) c.4419G>C (n.4419G>C) c.949G>C (p.Asp317His) c.5-10419G>C (n.5-10419G>C) c.109G>C (p.Asp37His) c.-98-24180G>C (n.-98-24180G>C) n.4772G>C n.4813G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43074370C>T	CA002936	BRCA1	c.4633G>A (p.Asp1545Asn) c.4636G>A (p.Asp1546Asn) c.4510G>A (p.Asp1504Asn) c.4630G>A (p.Asp1544Asn) c.4558G>A (p.Asp1520Asn) c.1324G>A (p.Asp442Asn) c.1186G>A (p.Asp396Asn) c.3748G>A (p.Asp1250Asn) c.4513G>A (p.Asp1505Asn) c.4702G>A (p.Asp1568Asn) c.4495G>A (p.Asp1499Asn) c.1198G>A (p.Asp400Asn) c.1243G>A (p.Asp415Asn) c.4699G>A (p.Asp1567Asn) c.1023G>A c.1210G>A (p.Asp404Asn) c.4419G>A (n.4419G>A) c.949G>A (p.Asp317Asn) c.5-10419G>A (n.5-10419G>A) c.109G>A (p.Asp37Asn) c.-98-24180G>A (n.-98-24180G>A) n.4772G>A n.4813G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43074370_43074371delinsCG	CA2260774456	BRCA1	c.4632_4633delinsCG (p.His1544=) c.4635_4636delinsCG (p.His1545=) c.4509_4510delinsCG (p.His1503=) c.4629_4630delinsCG (p.His1543=) c.4557_4558delinsCG (p.His1519=) c.1323_1324delinsCG (p.His441=) c.1185_1186delinsCG (p.His395=) c.3747_3748delinsCG (p.His1249=) c.4512_4513delinsCG (p.His1504=) c.4701_4702delinsCG (p.His1567=) c.4494_4495delinsCG (p.His1498=) c.1197_1198delinsCG (p.His399=) c.1242_1243delinsCG (p.His414=) c.4698_4699delinsCG (p.His1566=) c.1022_1023delinsCG c.1209_1210delinsCG (p.His403=) c.4418_4419delinsCG (n.4418_4419delinsCG) c.948_949delinsCG (p.His316=) c.5-10420_5-10419delinsCG (n.5-10420_5-10419delinsCG) c.108_109delinsCG (p.His36=) c.-98-24181_-98-24180delinsCG (n.-98-24181_-98-24180delinsCG) n.4771_4772delinsCG n.4812_4813delinsCG
17	g.43074371del	CA913188846	BRCA1	c.4632del (p.His1544GlnfsTer3) c.4635del (p.His1545GlnfsTer3) c.4509del (p.His1503GlnfsTer3) c.4629del (p.His1543GlnfsTer3) c.4557del (p.His1519GlnfsTer3) c.1323del (p.His441GlnfsTer3) c.1185del (p.His395GlnfsTer3) c.3747del (p.His1249GlnfsTer3) c.4512del (p.His1504GlnfsTer3) c.4701del (p.His1567GlnfsTer3) c.4494del (p.His1498GlnfsTer3) c.1197del (p.His399GlnfsTer3) c.1242del (p.His414GlnfsTer3) c.4698del (p.His1566GlnfsTer3) c.1022del c.1209del (p.His403GlnfsTer3) c.4418del (n.4418del) c.948del (p.His316GlnfsTer3) c.5-10420del (n.5-10420del) c.108del (p.His36GlnfsTer3) c.-98-24181del (n.-98-24181del) n.4771del n.4812del	ClinVar dbSNP
17	g.43074371G>A	CA052594	BRCA1	c.4632C>T (p.His1544=) c.4635C>T (p.His1545=) c.4509C>T (p.His1503=) c.4629C>T (p.His1543=) c.4557C>T (p.His1519=) c.1323C>T (p.His441=) c.1185C>T (p.His395=) c.3747C>T (p.His1249=) c.4512C>T (p.His1504=) c.4701C>T (p.His1567=) c.4494C>T (p.His1498=) c.1197C>T (p.His399=) c.1242C>T (p.His414=) c.4698C>T (p.His1566=) c.1022C>T c.1209C>T (p.His403=) c.4418C>T (n.4418C>T) c.948C>T (p.His316=) c.5-10420C>T (n.5-10420C>T) c.108C>T (p.His36=) c.-98-24181C>T (n.-98-24181C>T) n.4771C>T n.4812C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43074371G>C	CA10592239	BRCA1	c.4632C>G (p.His1544Gln) c.4635C>G (p.His1545Gln) c.4509C>G (p.His1503Gln) c.4629C>G (p.His1543Gln) c.4557C>G (p.His1519Gln) c.1323C>G (p.His441Gln) c.1185C>G (p.His395Gln) c.3747C>G (p.His1249Gln) c.4512C>G (p.His1504Gln) c.4701C>G (p.His1567Gln) c.4494C>G (p.His1498Gln) c.1197C>G (p.His399Gln) c.1242C>G (p.His414Gln) c.4698C>G (p.His1566Gln) c.1022C>G c.1209C>G (p.His403Gln) c.4418C>G (n.4418C>G) c.948C>G (p.His316Gln) c.5-10420C>G (n.5-10420C>G) c.108C>G (p.His36Gln) c.-98-24181C>G (n.-98-24181C>G) n.4771C>G n.4812C>G	ClinVar dbSNP gnomAD v4
17	g.43074371G=	CA2260774457	BRCA1	c.4632C= (p.His1544=) c.4635C= (p.His1545=) c.4509C= (p.His1503=) c.4629C= (p.His1543=) c.4557C= (p.His1519=) c.1323C= (p.His441=) c.1185C= (p.His395=) c.3747C= (p.His1249=) c.4512C= (p.His1504=) c.4701C= (p.His1567=) c.4494C= (p.His1498=) c.1197C= (p.His399=) c.1242C= (p.His414=) c.4698C= (p.His1566=) c.1022C= c.1209C= (p.His403=) c.4418C= (n.4418C=) c.948C= (p.His316=) c.5-10420C= (n.5-10420C=) c.108C= (p.His36=) c.-98-24181C= (n.-98-24181C=) n.4771C= n.4812C=
17	g.43074371G>T	CA10592240	BRCA1	c.4632C>A (p.His1544Gln) c.4635C>A (p.His1545Gln) c.4509C>A (p.His1503Gln) c.4629C>A (p.His1543Gln) c.4557C>A (p.His1519Gln) c.1323C>A (p.His441Gln) c.1185C>A (p.His395Gln) c.3747C>A (p.His1249Gln) c.4512C>A (p.His1504Gln) c.4701C>A (p.His1567Gln) c.4494C>A (p.His1498Gln) c.1197C>A (p.His399Gln) c.1242C>A (p.His414Gln) c.4698C>A (p.His1566Gln) c.1022C>A c.1209C>A (p.His403Gln) c.4418C>A (n.4418C>A) c.948C>A (p.His316Gln) c.5-10420C>A (n.5-10420C>A) c.108C>A (p.His36Gln) c.-98-24181C>A (n.-98-24181C>A) n.4771C>A n.4812C>A
17	g.43074372T>A	CA10592241	BRCA1	c.4631A>T (p.His1544Leu) c.4634A>T (p.His1545Leu) c.4508A>T (p.His1503Leu) c.4628A>T (p.His1543Leu) c.4556A>T (p.His1519Leu) c.1322A>T (p.His441Leu) c.1184A>T (p.His395Leu) c.3746A>T (p.His1249Leu) c.4511A>T (p.His1504Leu) c.4700A>T (p.His1567Leu) c.4493A>T (p.His1498Leu) c.1196A>T (p.His399Leu) c.1241A>T (p.His414Leu) c.4697A>T (p.His1566Leu) c.1021A>T c.1208A>T (p.His403Leu) c.4417A>T (n.4417A>T) c.947A>T (p.His316Leu) c.5-10421A>T (n.5-10421A>T) c.107A>T (p.His36Leu) c.-98-24182A>T (n.-98-24182A>T) n.4770A>T n.4811A>T	dbSNP
17	g.43074372T>C	CA10592242	BRCA1	c.4631A>G (p.His1544Arg) c.4634A>G (p.His1545Arg) c.4508A>G (p.His1503Arg) c.4628A>G (p.His1543Arg) c.4556A>G (p.His1519Arg) c.1322A>G (p.His441Arg) c.1184A>G (p.His395Arg) c.3746A>G (p.His1249Arg) c.4511A>G (p.His1504Arg) c.4700A>G (p.His1567Arg) c.4493A>G (p.His1498Arg) c.1196A>G (p.His399Arg) c.1241A>G (p.His414Arg) c.4697A>G (p.His1566Arg) c.1021A>G c.1208A>G (p.His403Arg) c.4417A>G (n.4417A>G) c.947A>G (p.His316Arg) c.5-10421A>G (n.5-10421A>G) c.107A>G (p.His36Arg) c.-98-24182A>G (n.-98-24182A>G) n.4770A>G n.4811A>G	ClinVar dbSNP
17	g.43074372T>G	CA10592243	BRCA1	c.4631A>C (p.His1544Pro) c.4634A>C (p.His1545Pro) c.4508A>C (p.His1503Pro) c.4628A>C (p.His1543Pro) c.4556A>C (p.His1519Pro) c.1322A>C (p.His441Pro) c.1184A>C (p.His395Pro) c.3746A>C (p.His1249Pro) c.4511A>C (p.His1504Pro) c.4700A>C (p.His1567Pro) c.4493A>C (p.His1498Pro) c.1196A>C (p.His399Pro) c.1241A>C (p.His414Pro) c.4697A>C (p.His1566Pro) c.1021A>C c.1208A>C (p.His403Pro) c.4417A>C (n.4417A>C) c.947A>C (p.His316Pro) c.5-10421A>C (n.5-10421A>C) c.107A>C (p.His36Pro) c.-98-24182A>C (n.-98-24182A>C) n.4770A>C n.4811A>C	dbSNP
17	g.43074372T=	CA2260774458	BRCA1	c.4631A= (p.His1544=) c.4634A= (p.His1545=) c.4508A= (p.His1503=) c.4628A= (p.His1543=) c.4556A= (p.His1519=) c.1322A= (p.His441=) c.1184A= (p.His395=) c.3746A= (p.His1249=) c.4511A= (p.His1504=) c.4700A= (p.His1567=) c.4493A= (p.His1498=) c.1196A= (p.His399=) c.1241A= (p.His414=) c.4697A= (p.His1566=) c.1021A= c.1208A= (p.His403=) c.4417A= (n.4417A=) c.947A= (p.His316=) c.5-10421A= (n.5-10421A=) c.107A= (p.His36=) c.-98-24182A= (n.-98-24182A=) n.4770A= n.4811A=
17	g.43074373G>A	CA10592244	BRCA1	c.4630C>T (p.His1544Tyr) c.4633C>T (p.His1545Tyr) c.4507C>T (p.His1503Tyr) c.4627C>T (p.His1543Tyr) c.4555C>T (p.His1519Tyr) c.1321C>T (p.His441Tyr) c.1183C>T (p.His395Tyr) c.3745C>T (p.His1249Tyr) c.4510C>T (p.His1504Tyr) c.4699C>T (p.His1567Tyr) c.4492C>T (p.His1498Tyr) c.1195C>T (p.His399Tyr) c.1240C>T (p.His414Tyr) c.4696C>T (p.His1566Tyr) c.1020C>T c.1207C>T (p.His403Tyr) c.4416C>T (n.4416C>T) c.946C>T (p.His316Tyr) c.5-10422C>T (n.5-10422C>T) c.106C>T (p.His36Tyr) c.-98-24183C>T (n.-98-24183C>T) n.4769C>T n.4810C>T	ClinVar dbSNP gnomAD v4
17	g.43074373G>C	CA10592245	BRCA1	c.4630C>G (p.His1544Asp) c.4633C>G (p.His1545Asp) c.4507C>G (p.His1503Asp) c.4627C>G (p.His1543Asp) c.4555C>G (p.His1519Asp) c.1321C>G (p.His441Asp) c.1183C>G (p.His395Asp) c.3745C>G (p.His1249Asp) c.4510C>G (p.His1504Asp) c.4699C>G (p.His1567Asp) c.4492C>G (p.His1498Asp) c.1195C>G (p.His399Asp) c.1240C>G (p.His414Asp) c.4696C>G (p.His1566Asp) c.1020C>G c.1207C>G (p.His403Asp) c.4416C>G (n.4416C>G) c.946C>G (p.His316Asp) c.5-10422C>G (n.5-10422C>G) c.106C>G (p.His36Asp) c.-98-24183C>G (n.-98-24183C>G) n.4769C>G n.4810C>G	dbSNP
17	g.43074373G>T	CA10592246	BRCA1	c.4630C>A (p.His1544Asn) c.4633C>A (p.His1545Asn) c.4507C>A (p.His1503Asn) c.4627C>A (p.His1543Asn) c.4555C>A (p.His1519Asn) c.1321C>A (p.His441Asn) c.1183C>A (p.His395Asn) c.3745C>A (p.His1249Asn) c.4510C>A (p.His1504Asn) c.4699C>A (p.His1567Asn) c.4492C>A (p.His1498Asn) c.1195C>A (p.His399Asn) c.1240C>A (p.His414Asn) c.4696C>A (p.His1566Asn) c.1020C>A c.1207C>A (p.His403Asn) c.4416C>A (n.4416C>A) c.946C>A (p.His316Asn) c.5-10422C>A (n.5-10422C>A) c.106C>A (p.His36Asn) c.-98-24183C>A (n.-98-24183C>A) n.4769C>A n.4810C>A
17	g.43074373_43074383delinsGTGGCCCAGAC	CA2260774459	BRCA1	c.4620_4630delinsGTCTGGGCCAC (p.Glu1540=) c.4623_4633delinsGTCTGGGCCAC (p.Glu1541=) c.4497_4507delinsGTCTGGGCCAC (p.Glu1499=) c.4617_4627delinsGTCTGGGCCAC (p.Glu1539=) c.4545_4555delinsGTCTGGGCCAC (p.Glu1515=) c.1311_1321delinsGTCTGGGCCAC (p.Glu437=) c.1173_1183delinsGTCTGGGCCAC (p.Glu391=) c.3735_3745delinsGTCTGGGCCAC (p.Glu1245=) c.4500_4510delinsGTCTGGGCCAC (p.Glu1500=) c.4689_4699delinsGTCTGGGCCAC (p.Glu1563=) c.4482_4492delinsGTCTGGGCCAC (p.Glu1494=) c.1185_1195delinsGTCTGGGCCAC (p.Glu395=) c.1230_1240delinsGTCTGGGCCAC (p.Glu410=) c.4686_4696delinsGTCTGGGCCAC (p.Glu1562=) c.1010_1020delinsGTCTGGGCCAC c.1197_1207delinsGTCTGGGCCAC (p.Glu399=) c.4406_4416delinsGTCTGGGCCAC (n.4406_4416delinsGTCTGGGCCAC) c.936_946delinsGTCTGGGCCAC (p.Glu312=) c.5-10432_5-10422delinsGTCTGGGCCAC (n.5-10432_5-10422delinsGTCTGGGCCAC) c.96_106delinsGTCTGGGCCAC (p.Glu32=) c.-98-24193_-98-24183delinsGTCTGGGCCAC (n.-98-24193_-98-24183delinsGTCTGGGCCAC) n.4759_4769delinsGTCTGGGCCAC n.4800_4810delinsGTCTGGGCCAC
17	g.43074374T>A	CA500146536	BRCA1	c.4629A>T (p.Pro1543=) c.4632A>T (p.Pro1544=) c.4506A>T (p.Pro1502=) c.4626A>T (p.Pro1542=) c.4554A>T (p.Pro1518=) c.1320A>T (p.Pro440=) c.1182A>T (p.Pro394=) c.3744A>T (p.Pro1248=) c.4509A>T (p.Pro1503=) c.4698A>T (p.Pro1566=) c.4491A>T (p.Pro1497=) c.1194A>T (p.Pro398=) c.1239A>T (p.Pro413=) c.4695A>T (p.Pro1565=) c.1019A>T c.1206A>T (p.Pro402=) c.4415A>T (n.4415A>T) c.945A>T (p.Pro315=) c.5-10423A>T (n.5-10423A>T) c.105A>T (p.Pro35=) c.-98-24184A>T (n.-98-24184A>T) n.4768A>T n.4809A>T
17	g.43074374T>C	CA500146538	BRCA1	c.4629A>G (p.Pro1543=) c.4632A>G (p.Pro1544=) c.4506A>G (p.Pro1502=) c.4626A>G (p.Pro1542=) c.4554A>G (p.Pro1518=) c.1320A>G (p.Pro440=) c.1182A>G (p.Pro394=) c.3744A>G (p.Pro1248=) c.4509A>G (p.Pro1503=) c.4698A>G (p.Pro1566=) c.4491A>G (p.Pro1497=) c.1194A>G (p.Pro398=) c.1239A>G (p.Pro413=) c.4695A>G (p.Pro1565=) c.1019A>G c.1206A>G (p.Pro402=) c.4415A>G (n.4415A>G) c.945A>G (p.Pro315=) c.5-10423A>G (n.5-10423A>G) c.105A>G (p.Pro35=) c.-98-24184A>G (n.-98-24184A>G) n.4768A>G n.4809A>G
17	g.43074374T>G	CA500146540	BRCA1	c.4629A>C (p.Pro1543=) c.4632A>C (p.Pro1544=) c.4506A>C (p.Pro1502=) c.4626A>C (p.Pro1542=) c.4554A>C (p.Pro1518=) c.1320A>C (p.Pro440=) c.1182A>C (p.Pro394=) c.3744A>C (p.Pro1248=) c.4509A>C (p.Pro1503=) c.4698A>C (p.Pro1566=) c.4491A>C (p.Pro1497=) c.1194A>C (p.Pro398=) c.1239A>C (p.Pro413=) c.4695A>C (p.Pro1565=) c.1019A>C c.1206A>C (p.Pro402=) c.4415A>C (n.4415A>C) c.945A>C (p.Pro315=) c.5-10423A>C (n.5-10423A>C) c.105A>C (p.Pro35=) c.-98-24184A>C (n.-98-24184A>C) n.4768A>C n.4809A>C	dbSNP
17	g.43074375_43074384del	CA913190342	BRCA1	c.4620_4629del (p.Glu1540AspfsTer4) c.4623_4632del (p.Glu1541AspfsTer4) c.4497_4506del (p.Glu1499AspfsTer4) c.4617_4626del (p.Glu1539AspfsTer4) c.4545_4554del (p.Glu1515AspfsTer4) c.1311_1320del (p.Glu437AspfsTer4) c.1173_1182del (p.Glu391AspfsTer4) c.3735_3744del (p.Glu1245AspfsTer4) c.4500_4509del (p.Glu1500AspfsTer4) c.4689_4698del (p.Glu1563AspfsTer4) c.4482_4491del (p.Glu1494AspfsTer4) c.1185_1194del (p.Glu395AspfsTer4) c.1230_1239del (p.Glu410AspfsTer4) c.4686_4695del (p.Glu1562AspfsTer4) c.1010_1019del c.1197_1206del (p.Glu399AspfsTer4) c.4406_4415del (n.4406_4415del) c.936_945del (p.Glu312AspfsTer4) c.5-10432_5-10423del (n.5-10432_5-10423del) c.96_105del (p.Glu32AspfsTer4) c.-98-24193_-98-24184del (n.-98-24193_-98-24184del) n.4759_4768del n.4800_4809del	ClinVar dbSNP
17	g.43074375G>A	CA002935	BRCA1	c.4628C>T (p.Pro1543Leu) c.4631C>T (p.Pro1544Leu) c.4505C>T (p.Pro1502Leu) c.4625C>T (p.Pro1542Leu) c.4553C>T (p.Pro1518Leu) c.1319C>T (p.Pro440Leu) c.1181C>T (p.Pro394Leu) c.3743C>T (p.Pro1248Leu) c.4508C>T (p.Pro1503Leu) c.4697C>T (p.Pro1566Leu) c.4490C>T (p.Pro1497Leu) c.1193C>T (p.Pro398Leu) c.1238C>T (p.Pro413Leu) c.4694C>T (p.Pro1565Leu) c.1018C>T c.1205C>T (p.Pro402Leu) c.4414C>T (n.4414C>T) c.944C>T (p.Pro315Leu) c.5-10424C>T (n.5-10424C>T) c.104C>T (p.Pro35Leu) c.-98-24185C>T (n.-98-24185C>T) n.4767C>T n.4808C>T	ClinVar dbSNP
17	g.43074375G>C	CA10592247	BRCA1	c.4628C>G (p.Pro1543Arg) c.4631C>G (p.Pro1544Arg) c.4505C>G (p.Pro1502Arg) c.4625C>G (p.Pro1542Arg) c.4553C>G (p.Pro1518Arg) c.1319C>G (p.Pro440Arg) c.1181C>G (p.Pro394Arg) c.3743C>G (p.Pro1248Arg) c.4508C>G (p.Pro1503Arg) c.4697C>G (p.Pro1566Arg) c.4490C>G (p.Pro1497Arg) c.1193C>G (p.Pro398Arg) c.1238C>G (p.Pro413Arg) c.4694C>G (p.Pro1565Arg) c.1018C>G c.1205C>G (p.Pro402Arg) c.4414C>G (n.4414C>G) c.944C>G (p.Pro315Arg) c.5-10424C>G (n.5-10424C>G) c.104C>G (p.Pro35Arg) c.-98-24185C>G (n.-98-24185C>G) n.4767C>G n.4808C>G	dbSNP
17	g.43074375G=	CA2260774460	BRCA1	c.4628C= (p.Pro1543=) c.4631C= (p.Pro1544=) c.4505C= (p.Pro1502=) c.4625C= (p.Pro1542=) c.4553C= (p.Pro1518=) c.1319C= (p.Pro440=) c.1181C= (p.Pro394=) c.3743C= (p.Pro1248=) c.4508C= (p.Pro1503=) c.4697C= (p.Pro1566=) c.4490C= (p.Pro1497=) c.1193C= (p.Pro398=) c.1238C= (p.Pro413=) c.4694C= (p.Pro1565=) c.1018C= c.1205C= (p.Pro402=) c.4414C= (n.4414C=) c.944C= (p.Pro315=) c.5-10424C= (n.5-10424C=) c.104C= (p.Pro35=) c.-98-24185C= (n.-98-24185C=) n.4767C= n.4808C=
17	g.43074375G>T	CA10592248	BRCA1	c.4628C>A (p.Pro1543Gln) c.4631C>A (p.Pro1544Gln) c.4505C>A (p.Pro1502Gln) c.4625C>A (p.Pro1542Gln) c.4553C>A (p.Pro1518Gln) c.1319C>A (p.Pro440Gln) c.1181C>A (p.Pro394Gln) c.3743C>A (p.Pro1248Gln) c.4508C>A (p.Pro1503Gln) c.4697C>A (p.Pro1566Gln) c.4490C>A (p.Pro1497Gln) c.1193C>A (p.Pro398Gln) c.1238C>A (p.Pro413Gln) c.4694C>A (p.Pro1565Gln) c.1018C>A c.1205C>A (p.Pro402Gln) c.4414C>A (n.4414C>A) c.944C>A (p.Pro315Gln) c.5-10424C>A (n.5-10424C>A) c.104C>A (p.Pro35Gln) c.-98-24185C>A (n.-98-24185C>A) n.4767C>A n.4808C>A
17	g.43074376del	CA2573154047	BRCA1	c.4628del (p.Pro1543HisfsTer4) c.4631del (p.Pro1544HisfsTer4) c.4505del (p.Pro1502HisfsTer4) c.4625del (p.Pro1542HisfsTer4) c.4553del (p.Pro1518HisfsTer4) c.1319del (p.Pro440HisfsTer4) c.1181del (p.Pro394HisfsTer4) c.3743del (p.Pro1248HisfsTer4) c.4508del (p.Pro1503HisfsTer4) c.4697del (p.Pro1566HisfsTer4) c.4490del (p.Pro1497HisfsTer4) c.1193del (p.Pro398HisfsTer4) c.1238del (p.Pro413HisfsTer4) c.4694del (p.Pro1565HisfsTer4) c.1018del c.1205del (p.Pro402HisfsTer4) c.4414del (n.4414del) c.944del (p.Pro315HisfsTer4) c.5-10424del (n.5-10424del) c.104del (p.Pro35HisfsTer4) c.-98-24185del (n.-98-24185del) n.4767del n.4808del	ClinVar dbSNP
17	g.43074376G>A	CA10592249	BRCA1	c.4627C>T (p.Pro1543Ser) c.4630C>T (p.Pro1544Ser) c.4504C>T (p.Pro1502Ser) c.4624C>T (p.Pro1542Ser) c.4552C>T (p.Pro1518Ser) c.1318C>T (p.Pro440Ser) c.1180C>T (p.Pro394Ser) c.3742C>T (p.Pro1248Ser) c.4507C>T (p.Pro1503Ser) c.4696C>T (p.Pro1566Ser) c.4489C>T (p.Pro1497Ser) c.1192C>T (p.Pro398Ser) c.1237C>T (p.Pro413Ser) c.4693C>T (p.Pro1565Ser) c.1017C>T c.1204C>T (p.Pro402Ser) c.4413C>T (n.4413C>T) c.943C>T (p.Pro315Ser) c.5-10425C>T (n.5-10425C>T) c.103C>T (p.Pro35Ser) c.-98-24186C>T (n.-98-24186C>T) n.4766C>T n.4807C>T	dbSNP
17	g.43074376G>C	CA10592250	BRCA1	c.4627C>G (p.Pro1543Ala) c.4630C>G (p.Pro1544Ala) c.4504C>G (p.Pro1502Ala) c.4624C>G (p.Pro1542Ala) c.4552C>G (p.Pro1518Ala) c.1318C>G (p.Pro440Ala) c.1180C>G (p.Pro394Ala) c.3742C>G (p.Pro1248Ala) c.4507C>G (p.Pro1503Ala) c.4696C>G (p.Pro1566Ala) c.4489C>G (p.Pro1497Ala) c.1192C>G (p.Pro398Ala) c.1237C>G (p.Pro413Ala) c.4693C>G (p.Pro1565Ala) c.1017C>G c.1204C>G (p.Pro402Ala) c.4413C>G (n.4413C>G) c.943C>G (p.Pro315Ala) c.5-10425C>G (n.5-10425C>G) c.103C>G (p.Pro35Ala) c.-98-24186C>G (n.-98-24186C>G) n.4766C>G n.4807C>G	dbSNP
17	g.43074376G>T	CA10592251	BRCA1	c.4627C>A (p.Pro1543Thr) c.4630C>A (p.Pro1544Thr) c.4504C>A (p.Pro1502Thr) c.4624C>A (p.Pro1542Thr) c.4552C>A (p.Pro1518Thr) c.1318C>A (p.Pro440Thr) c.1180C>A (p.Pro394Thr) c.3742C>A (p.Pro1248Thr) c.4507C>A (p.Pro1503Thr) c.4696C>A (p.Pro1566Thr) c.4489C>A (p.Pro1497Thr) c.1192C>A (p.Pro398Thr) c.1237C>A (p.Pro413Thr) c.4693C>A (p.Pro1565Thr) c.1017C>A c.1204C>A (p.Pro402Thr) c.4413C>A (n.4413C>A) c.943C>A (p.Pro315Thr) c.5-10425C>A (n.5-10425C>A) c.103C>A (p.Pro35Thr) c.-98-24186C>A (n.-98-24186C>A) n.4766C>A n.4807C>A	ClinVar dbSNP
17	g.43074377C>A	CA500146543	BRCA1	c.4626G>T (p.Gly1542=) c.4629G>T (p.Gly1543=) c.4503G>T (p.Gly1501=) c.4623G>T (p.Gly1541=) c.4551G>T (p.Gly1517=) c.1317G>T (p.Gly439=) c.1179G>T (p.Gly393=) c.3741G>T (p.Gly1247=) c.4506G>T (p.Gly1502=) c.4695G>T (p.Gly1565=) c.4488G>T (p.Gly1496=) c.1191G>T (p.Gly397=) c.1236G>T (p.Gly412=) c.4692G>T (p.Gly1564=) c.1016G>T c.1203G>T (p.Gly401=) c.4412G>T (n.4412G>T) c.942G>T (p.Gly314=) c.5-10426G>T (n.5-10426G>T) c.102G>T (p.Gly34=) c.-98-24187G>T (n.-98-24187G>T) n.4765G>T n.4806G>T	dbSNP
17	g.43074377C=	CA2260774461	BRCA1	c.4626G= (p.Gly1542=) c.4629G= (p.Gly1543=) c.4503G= (p.Gly1501=) c.4623G= (p.Gly1541=) c.4551G= (p.Gly1517=) c.1317G= (p.Gly439=) c.1179G= (p.Gly393=) c.3741G= (p.Gly1247=) c.4506G= (p.Gly1502=) c.4695G= (p.Gly1565=) c.4488G= (p.Gly1496=) c.1191G= (p.Gly397=) c.1236G= (p.Gly412=) c.4692G= (p.Gly1564=) c.1016G= c.1203G= (p.Gly401=) c.4412G= (n.4412G=) c.942G= (p.Gly314=) c.5-10426G= (n.5-10426G=) c.102G= (p.Gly34=) c.-98-24187G= (n.-98-24187G=) n.4765G= n.4806G=
17	g.43074377C>G	CA500146544	BRCA1	c.4626G>C (p.Gly1542=) c.4629G>C (p.Gly1543=) c.4503G>C (p.Gly1501=) c.4623G>C (p.Gly1541=) c.4551G>C (p.Gly1517=) c.1317G>C (p.Gly439=) c.1179G>C (p.Gly393=) c.3741G>C (p.Gly1247=) c.4506G>C (p.Gly1502=) c.4695G>C (p.Gly1565=) c.4488G>C (p.Gly1496=) c.1191G>C (p.Gly397=) c.1236G>C (p.Gly412=) c.4692G>C (p.Gly1564=) c.1016G>C c.1203G>C (p.Gly401=) c.4412G>C (n.4412G>C) c.942G>C (p.Gly314=) c.5-10426G>C (n.5-10426G>C) c.102G>C (p.Gly34=) c.-98-24187G>C (n.-98-24187G>C) n.4765G>C n.4806G>C	dbSNP
17	g.43074377C>T	CA500146545	BRCA1	c.4626G>A (p.Gly1542=) c.4629G>A (p.Gly1543=) c.4503G>A (p.Gly1501=) c.4623G>A (p.Gly1541=) c.4551G>A (p.Gly1517=) c.1317G>A (p.Gly439=) c.1179G>A (p.Gly393=) c.3741G>A (p.Gly1247=) c.4506G>A (p.Gly1502=) c.4695G>A (p.Gly1565=) c.4488G>A (p.Gly1496=) c.1191G>A (p.Gly397=) c.1236G>A (p.Gly412=) c.4692G>A (p.Gly1564=) c.1016G>A c.1203G>A (p.Gly401=) c.4412G>A (n.4412G>A) c.942G>A (p.Gly314=) c.5-10426G>A (n.5-10426G>A) c.102G>A (p.Gly34=) c.-98-24187G>A (n.-98-24187G>A) n.4765G>A n.4806G>A	ClinVar dbSNP gnomAD v4
17	g.43074379del	CA2638062925	BRCA1	c.4626del (p.Pro1543HisfsTer4) c.4629del (p.Pro1544HisfsTer4) c.4503del (p.Pro1502HisfsTer4) c.4623del (p.Pro1542HisfsTer4) c.4551del (p.Pro1518HisfsTer4) c.1317del (p.Pro440HisfsTer4) c.1179del (p.Pro394HisfsTer4) c.3741del (p.Pro1248HisfsTer4) c.4506del (p.Pro1503HisfsTer4) c.4695del (p.Pro1566HisfsTer4) c.4488del (p.Pro1497HisfsTer4) c.1191del (p.Pro398HisfsTer4) c.1236del (p.Pro413HisfsTer4) c.4692del (p.Pro1565HisfsTer4) c.1016del c.1203del (p.Pro402HisfsTer4) c.4412del (n.4412del) c.942del (p.Pro315HisfsTer4) c.5-10426del (n.5-10426del) c.102del (p.Pro35HisfsTer4) c.-98-24187del (n.-98-24187del) n.4765del n.4806del	gnomAD v4
17	g.43074378C>A	CA10592252	BRCA1	c.4625G>T (p.Gly1542Val) c.4628G>T (p.Gly1543Val) c.4502G>T (p.Gly1501Val) c.4622G>T (p.Gly1541Val) c.4550G>T (p.Gly1517Val) c.1316G>T (p.Gly439Val) c.1178G>T (p.Gly393Val) c.3740G>T (p.Gly1247Val) c.4505G>T (p.Gly1502Val) c.4694G>T (p.Gly1565Val) c.4487G>T (p.Gly1496Val) c.1190G>T (p.Gly397Val) c.1235G>T (p.Gly412Val) c.4691G>T (p.Gly1564Val) c.1015G>T c.1202G>T (p.Gly401Val) c.4411G>T (n.4411G>T) c.941G>T (p.Gly314Val) c.5-10427G>T (n.5-10427G>T) c.101G>T (p.Gly34Val) c.-98-24188G>T (n.-98-24188G>T) n.4764G>T n.4805G>T	dbSNP
17	g.43074378C>G	CA10592253	BRCA1	c.4625G>C (p.Gly1542Ala) c.4628G>C (p.Gly1543Ala) c.4502G>C (p.Gly1501Ala) c.4622G>C (p.Gly1541Ala) c.4550G>C (p.Gly1517Ala) c.1316G>C (p.Gly439Ala) c.1178G>C (p.Gly393Ala) c.3740G>C (p.Gly1247Ala) c.4505G>C (p.Gly1502Ala) c.4694G>C (p.Gly1565Ala) c.4487G>C (p.Gly1496Ala) c.1190G>C (p.Gly397Ala) c.1235G>C (p.Gly412Ala) c.4691G>C (p.Gly1564Ala) c.1015G>C c.1202G>C (p.Gly401Ala) c.4411G>C (n.4411G>C) c.941G>C (p.Gly314Ala) c.5-10427G>C (n.5-10427G>C) c.101G>C (p.Gly34Ala) c.-98-24188G>C (n.-98-24188G>C) n.4764G>C n.4805G>C	dbSNP
17	g.43074378C>T	CA10592254	BRCA1	c.4625G>A (p.Gly1542Glu) c.4628G>A (p.Gly1543Glu) c.4502G>A (p.Gly1501Glu) c.4622G>A (p.Gly1541Glu) c.4550G>A (p.Gly1517Glu) c.1316G>A (p.Gly439Glu) c.1178G>A (p.Gly393Glu) c.3740G>A (p.Gly1247Glu) c.4505G>A (p.Gly1502Glu) c.4694G>A (p.Gly1565Glu) c.4487G>A (p.Gly1496Glu) c.1190G>A (p.Gly397Glu) c.1235G>A (p.Gly412Glu) c.4691G>A (p.Gly1564Glu) c.1015G>A c.1202G>A (p.Gly401Glu) c.4411G>A (n.4411G>A) c.941G>A (p.Gly314Glu) c.5-10427G>A (n.5-10427G>A) c.101G>A (p.Gly34Glu) c.-98-24188G>A (n.-98-24188G>A) n.4764G>A n.4805G>A	dbSNP
17	g.43074379_43074383del	CA2573154048	BRCA1	c.4621_4625del (p.Ser1541AlafsTer30) c.4624_4628del (p.Ser1542AlafsTer30) c.4498_4502del (p.Ser1500AlafsTer30) c.4618_4622del (p.Ser1540AlafsTer30) c.4546_4550del (p.Ser1516AlafsTer30) c.1312_1316del (p.Ser438AlafsTer30) c.1174_1178del (p.Ser392AlafsTer30) c.3736_3740del (p.Ser1246AlafsTer30) c.4501_4505del (p.Ser1501AlafsTer30) c.4690_4694del (p.Ser1564AlafsTer30) c.4483_4487del (p.Ser1495AlafsTer30) c.1186_1190del (p.Ser396AlafsTer30) c.1231_1235del (p.Ser411AlafsTer30) c.4687_4691del (p.Ser1563AlafsTer30) c.1011_1015del c.1198_1202del (p.Ser400AlafsTer30) c.4407_4411del (n.4407_4411del) c.937_941del (p.Ser313AlafsTer30) c.5-10431_5-10427del (n.5-10431_5-10427del) c.97_101del (p.Ser33AlafsTer30) c.-98-24192_-98-24188del (n.-98-24192_-98-24188del) n.4760_4764del n.4801_4805del	ClinVar dbSNP
17	g.43074379C>A	CA10592255	BRCA1	c.4624G>T (p.Gly1542Trp) c.4627G>T (p.Gly1543Trp) c.4501G>T (p.Gly1501Trp) c.4621G>T (p.Gly1541Trp) c.4549G>T (p.Gly1517Trp) c.1315G>T (p.Gly439Trp) c.1177G>T (p.Gly393Trp) c.3739G>T (p.Gly1247Trp) c.4504G>T (p.Gly1502Trp) c.4693G>T (p.Gly1565Trp) c.4486G>T (p.Gly1496Trp) c.1189G>T (p.Gly397Trp) c.1234G>T (p.Gly412Trp) c.4690G>T (p.Gly1564Trp) c.1014G>T c.1201G>T (p.Gly401Trp) c.4410G>T (n.4410G>T) c.940G>T (p.Gly314Trp) c.5-10428G>T (n.5-10428G>T) c.100G>T (p.Gly34Trp) c.-98-24189G>T (n.-98-24189G>T) n.4763G>T n.4804G>T
17	g.43074379C=	CA2260774463	BRCA1	c.4624G= (p.Gly1542=) c.4627G= (p.Gly1543=) c.4501G= (p.Gly1501=) c.4621G= (p.Gly1541=) c.4549G= (p.Gly1517=) c.1315G= (p.Gly439=) c.1177G= (p.Gly393=) c.3739G= (p.Gly1247=) c.4504G= (p.Gly1502=) c.4693G= (p.Gly1565=) c.4486G= (p.Gly1496=) c.1189G= (p.Gly397=) c.1234G= (p.Gly412=) c.4690G= (p.Gly1564=) c.1014G= c.1201G= (p.Gly401=) c.4410G= (n.4410G=) c.940G= (p.Gly314=) c.5-10428G= (n.5-10428G=) c.100G= (p.Gly34=) c.-98-24189G= (n.-98-24189G=) n.4763G= n.4804G=
17	g.43074379C>G	CA10592256	BRCA1	c.4624G>C (p.Gly1542Arg) c.4627G>C (p.Gly1543Arg) c.4501G>C (p.Gly1501Arg) c.4621G>C (p.Gly1541Arg) c.4549G>C (p.Gly1517Arg) c.1315G>C (p.Gly439Arg) c.1177G>C (p.Gly393Arg) c.3739G>C (p.Gly1247Arg) c.4504G>C (p.Gly1502Arg) c.4693G>C (p.Gly1565Arg) c.4486G>C (p.Gly1496Arg) c.1189G>C (p.Gly397Arg) c.1234G>C (p.Gly412Arg) c.4690G>C (p.Gly1564Arg) c.1014G>C c.1201G>C (p.Gly401Arg) c.4410G>C (n.4410G>C) c.940G>C (p.Gly314Arg) c.5-10428G>C (n.5-10428G>C) c.100G>C (p.Gly34Arg) c.-98-24189G>C (n.-98-24189G>C) n.4763G>C n.4804G>C
17	g.43074379C>T	CA10592257	BRCA1	c.4624G>A (p.Gly1542Arg) c.4627G>A (p.Gly1543Arg) c.4501G>A (p.Gly1501Arg) c.4621G>A (p.Gly1541Arg) c.4549G>A (p.Gly1517Arg) c.1315G>A (p.Gly439Arg) c.1177G>A (p.Gly393Arg) c.3739G>A (p.Gly1247Arg) c.4504G>A (p.Gly1502Arg) c.4693G>A (p.Gly1565Arg) c.4486G>A (p.Gly1496Arg) c.1189G>A (p.Gly397Arg) c.1234G>A (p.Gly412Arg) c.4690G>A (p.Gly1564Arg) c.1014G>A c.1201G>A (p.Gly401Arg) c.4410G>A (n.4410G>A) c.940G>A (p.Gly314Arg) c.5-10428G>A (n.5-10428G>A) c.100G>A (p.Gly34Arg) c.-98-24189G>A (n.-98-24189G>A) n.4763G>A n.4804G>A	dbSNP
17	g.43074379_43074381delinsCAG	CA2260774462	BRCA1	c.4622_4624delinsCTG (p.Ser1541=) c.4625_4627delinsCTG (p.Ser1542=) c.4499_4501delinsCTG (p.Ser1500=) c.4619_4621delinsCTG (p.Ser1540=) c.4547_4549delinsCTG (p.Ser1516=) c.1313_1315delinsCTG (p.Ser438=) c.1175_1177delinsCTG (p.Ser392=) c.3737_3739delinsCTG (p.Ser1246=) c.4502_4504delinsCTG (p.Ser1501=) c.4691_4693delinsCTG (p.Ser1564=) c.4484_4486delinsCTG (p.Ser1495=) c.1187_1189delinsCTG (p.Ser396=) c.1232_1234delinsCTG (p.Ser411=) c.4688_4690delinsCTG (p.Ser1563=) c.1012_1014delinsCTG c.1199_1201delinsCTG (p.Ser400=) c.4408_4410delinsCTG (n.4408_4410delinsCTG) c.938_940delinsCTG (p.Ser313=) c.5-10430_5-10428delinsCTG (n.5-10430_5-10428delinsCTG) c.98_100delinsCTG (p.Ser33=) c.-98-24191_-98-24189delinsCTG (n.-98-24191_-98-24189delinsCTG) n.4761_4763delinsCTG n.4802_4804delinsCTG
17	g.43074380A=	CA2260774464	BRCA1	c.4623T= (p.Ser1541=) c.4626T= (p.Ser1542=) c.4500T= (p.Ser1500=) c.4620T= (p.Ser1540=) c.4548T= (p.Ser1516=) c.1314T= (p.Ser438=) c.1176T= (p.Ser392=) c.3738T= (p.Ser1246=) c.4503T= (p.Ser1501=) c.4692T= (p.Ser1564=) c.4485T= (p.Ser1495=) c.1188T= (p.Ser396=) c.1233T= (p.Ser411=) c.4689T= (p.Ser1563=) c.1013T= c.1200T= (p.Ser400=) c.4409T= (n.4409T=) c.939T= (p.Ser313=) c.5-10429T= (n.5-10429T=) c.99T= (p.Ser33=) c.-98-24190T= (n.-98-24190T=) n.4762T= n.4803T=
17	g.43074380A>C	CA500146548	BRCA1	c.4623T>G (p.Ser1541=) c.4626T>G (p.Ser1542=) c.4500T>G (p.Ser1500=) c.4620T>G (p.Ser1540=) c.4548T>G (p.Ser1516=) c.1314T>G (p.Ser438=) c.1176T>G (p.Ser392=) c.3738T>G (p.Ser1246=) c.4503T>G (p.Ser1501=) c.4692T>G (p.Ser1564=) c.4485T>G (p.Ser1495=) c.1188T>G (p.Ser396=) c.1233T>G (p.Ser411=) c.4689T>G (p.Ser1563=) c.1013T>G c.1200T>G (p.Ser400=) c.4409T>G (n.4409T>G) c.939T>G (p.Ser313=) c.5-10429T>G (n.5-10429T>G) c.99T>G (p.Ser33=) c.-98-24190T>G (n.-98-24190T>G) n.4762T>G n.4803T>G
17	g.43074380A>G	CA002934	BRCA1	c.4623T>C (p.Ser1541=) c.4626T>C (p.Ser1542=) c.4500T>C (p.Ser1500=) c.4620T>C (p.Ser1540=) c.4548T>C (p.Ser1516=) c.1314T>C (p.Ser438=) c.1176T>C (p.Ser392=) c.3738T>C (p.Ser1246=) c.4503T>C (p.Ser1501=) c.4692T>C (p.Ser1564=) c.4485T>C (p.Ser1495=) c.1188T>C (p.Ser396=) c.1233T>C (p.Ser411=) c.4689T>C (p.Ser1563=) c.1013T>C c.1200T>C (p.Ser400=) c.4409T>C (n.4409T>C) c.939T>C (p.Ser313=) c.5-10429T>C (n.5-10429T>C) c.99T>C (p.Ser33=) c.-98-24190T>C (n.-98-24190T>C) n.4762T>C n.4803T>C	ClinVar dbSNP
17	g.43074380A>T	CA500146550	BRCA1	c.4623T>A (p.Ser1541=) c.4626T>A (p.Ser1542=) c.4500T>A (p.Ser1500=) c.4620T>A (p.Ser1540=) c.4548T>A (p.Ser1516=) c.1314T>A (p.Ser438=) c.1176T>A (p.Ser392=) c.3738T>A (p.Ser1246=) c.4503T>A (p.Ser1501=) c.4692T>A (p.Ser1564=) c.4485T>A (p.Ser1495=) c.1188T>A (p.Ser396=) c.1233T>A (p.Ser411=) c.4689T>A (p.Ser1563=) c.1013T>A c.1200T>A (p.Ser400=) c.4409T>A (n.4409T>A) c.939T>A (p.Ser313=) c.5-10429T>A (n.5-10429T>A) c.99T>A (p.Ser33=) c.-98-24190T>A (n.-98-24190T>A) n.4762T>A n.4803T>A	dbSNP
17	g.43074381_43074382del	CA002932	BRCA1	c.4622_4623del (p.Ser1541TrpfsTer?) c.4625_4626del (p.Ser1542TrpfsTer?) c.4499_4500del (p.Ser1500TrpfsTer?) c.4619_4620del (p.Ser1540TrpfsTer?) c.4547_4548del (p.Ser1516TrpfsTer?) c.1313_1314del (p.Ser438TrpfsTer?) c.1175_1176del (p.Ser392TrpfsTer?) c.3737_3738del (p.Ser1246TrpfsTer?) c.4502_4503del (p.Ser1501TrpfsTer?) c.4691_4692del (p.Ser1564TrpfsTer?) c.4484_4485del (p.Ser1495TrpfsTer?) c.1187_1188del (p.Ser396TrpfsTer?) c.1232_1233del (p.Ser411TrpfsTer?) c.4688_4689del (p.Ser1563TrpfsTer?) c.1012_1013del c.1199_1200del (p.Ser400TrpfsTer?) c.4408_4409del (n.4408_4409del) c.938_939del (p.Ser313TrpfsTer?) c.5-10430_5-10429del (n.5-10430_5-10429del) c.98_99del (p.Ser33TrpfsTer?) c.-98-24191_-98-24190del (n.-98-24191_-98-24190del) n.4761_4762del n.4802_4803del	ClinVar dbSNP gnomAD v4
17	g.43074381G>A	CA10592258	BRCA1	c.4622C>T (p.Ser1541Phe) c.4625C>T (p.Ser1542Phe) c.4499C>T (p.Ser1500Phe) c.4619C>T (p.Ser1540Phe) c.4547C>T (p.Ser1516Phe) c.1313C>T (p.Ser438Phe) c.1175C>T (p.Ser392Phe) c.3737C>T (p.Ser1246Phe) c.4502C>T (p.Ser1501Phe) c.4691C>T (p.Ser1564Phe) c.4484C>T (p.Ser1495Phe) c.1187C>T (p.Ser396Phe) c.1232C>T (p.Ser411Phe) c.4688C>T (p.Ser1563Phe) c.1012C>T c.1199C>T (p.Ser400Phe) c.4408C>T (n.4408C>T) c.938C>T (p.Ser313Phe) c.5-10430C>T (n.5-10430C>T) c.98C>T (p.Ser33Phe) c.-98-24191C>T (n.-98-24191C>T) n.4761C>T n.4802C>T	dbSNP
17	g.43074381G>C	CA002933	BRCA1	c.4622C>G (p.Ser1541Cys) c.4625C>G (p.Ser1542Cys) c.4499C>G (p.Ser1500Cys) c.4619C>G (p.Ser1540Cys) c.4547C>G (p.Ser1516Cys) c.1313C>G (p.Ser438Cys) c.1175C>G (p.Ser392Cys) c.3737C>G (p.Ser1246Cys) c.4502C>G (p.Ser1501Cys) c.4691C>G (p.Ser1564Cys) c.4484C>G (p.Ser1495Cys) c.1187C>G (p.Ser396Cys) c.1232C>G (p.Ser411Cys) c.4688C>G (p.Ser1563Cys) c.1012C>G c.1199C>G (p.Ser400Cys) c.4408C>G (n.4408C>G) c.938C>G (p.Ser313Cys) c.5-10430C>G (n.5-10430C>G) c.98C>G (p.Ser33Cys) c.-98-24191C>G (n.-98-24191C>G) n.4761C>G n.4802C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43074381G=	CA2260774465	BRCA1	c.4622C= (p.Ser1541=) c.4625C= (p.Ser1542=) c.4499C= (p.Ser1500=) c.4619C= (p.Ser1540=) c.4547C= (p.Ser1516=) c.1313C= (p.Ser438=) c.1175C= (p.Ser392=) c.3737C= (p.Ser1246=) c.4502C= (p.Ser1501=) c.4691C= (p.Ser1564=) c.4484C= (p.Ser1495=) c.1187C= (p.Ser396=) c.1232C= (p.Ser411=) c.4688C= (p.Ser1563=) c.1012C= c.1199C= (p.Ser400=) c.4408C= (n.4408C=) c.938C= (p.Ser313=) c.5-10430C= (n.5-10430C=) c.98C= (p.Ser33=) c.-98-24191C= (n.-98-24191C=) n.4761C= n.4802C=
17	g.43074381G>T	CA10592259	BRCA1	c.4622C>A (p.Ser1541Tyr) c.4625C>A (p.Ser1542Tyr) c.4499C>A (p.Ser1500Tyr) c.4619C>A (p.Ser1540Tyr) c.4547C>A (p.Ser1516Tyr) c.1313C>A (p.Ser438Tyr) c.1175C>A (p.Ser392Tyr) c.3737C>A (p.Ser1246Tyr) c.4502C>A (p.Ser1501Tyr) c.4691C>A (p.Ser1564Tyr) c.4484C>A (p.Ser1495Tyr) c.1187C>A (p.Ser396Tyr) c.1232C>A (p.Ser411Tyr) c.4688C>A (p.Ser1563Tyr) c.1012C>A c.1199C>A (p.Ser400Tyr) c.4408C>A (n.4408C>A) c.938C>A (p.Ser313Tyr) c.5-10430C>A (n.5-10430C>A) c.98C>A (p.Ser33Tyr) c.-98-24191C>A (n.-98-24191C>A) n.4761C>A n.4802C>A
17	g.43074382A=	CA2260774466	BRCA1	c.4621T= (p.Ser1541=) c.4624T= (p.Ser1542=) c.4498T= (p.Ser1500=) c.4618T= (p.Ser1540=) c.4546T= (p.Ser1516=) c.1312T= (p.Ser438=) c.1174T= (p.Ser392=) c.3736T= (p.Ser1246=) c.4501T= (p.Ser1501=) c.4690T= (p.Ser1564=) c.4483T= (p.Ser1495=) c.1186T= (p.Ser396=) c.1231T= (p.Ser411=) c.4687T= (p.Ser1563=) c.1011T= c.1198T= (p.Ser400=) c.4407T= (n.4407T=) c.937T= (p.Ser313=) c.5-10431T= (n.5-10431T=) c.97T= (p.Ser33=) c.-98-24192T= (n.-98-24192T=) n.4760T= n.4801T=
17	g.43074382A>C	CA10592260	BRCA1	c.4621T>G (p.Ser1541Ala) c.4624T>G (p.Ser1542Ala) c.4498T>G (p.Ser1500Ala) c.4618T>G (p.Ser1540Ala) c.4546T>G (p.Ser1516Ala) c.1312T>G (p.Ser438Ala) c.1174T>G (p.Ser392Ala) c.3736T>G (p.Ser1246Ala) c.4501T>G (p.Ser1501Ala) c.4690T>G (p.Ser1564Ala) c.4483T>G (p.Ser1495Ala) c.1186T>G (p.Ser396Ala) c.1231T>G (p.Ser411Ala) c.4687T>G (p.Ser1563Ala) c.1011T>G c.1198T>G (p.Ser400Ala) c.4407T>G (n.4407T>G) c.937T>G (p.Ser313Ala) c.5-10431T>G (n.5-10431T>G) c.97T>G (p.Ser33Ala) c.-98-24192T>G (n.-98-24192T>G) n.4760T>G n.4801T>G
17	g.43074382A>G	CA10592261	BRCA1	c.4621T>C (p.Ser1541Pro) c.4624T>C (p.Ser1542Pro) c.4498T>C (p.Ser1500Pro) c.4618T>C (p.Ser1540Pro) c.4546T>C (p.Ser1516Pro) c.1312T>C (p.Ser438Pro) c.1174T>C (p.Ser392Pro) c.3736T>C (p.Ser1246Pro) c.4501T>C (p.Ser1501Pro) c.4690T>C (p.Ser1564Pro) c.4483T>C (p.Ser1495Pro) c.1186T>C (p.Ser396Pro) c.1231T>C (p.Ser411Pro) c.4687T>C (p.Ser1563Pro) c.1011T>C c.1198T>C (p.Ser400Pro) c.4407T>C (n.4407T>C) c.937T>C (p.Ser313Pro) c.5-10431T>C (n.5-10431T>C) c.97T>C (p.Ser33Pro) c.-98-24192T>C (n.-98-24192T>C) n.4760T>C n.4801T>C	ClinVar dbSNP gnomAD v4
17	g.43074382A>T	CA10592262	BRCA1	c.4621T>A (p.Ser1541Thr) c.4624T>A (p.Ser1542Thr) c.4498T>A (p.Ser1500Thr) c.4618T>A (p.Ser1540Thr) c.4546T>A (p.Ser1516Thr) c.1312T>A (p.Ser438Thr) c.1174T>A (p.Ser392Thr) c.3736T>A (p.Ser1246Thr) c.4501T>A (p.Ser1501Thr) c.4690T>A (p.Ser1564Thr) c.4483T>A (p.Ser1495Thr) c.1186T>A (p.Ser396Thr) c.1231T>A (p.Ser411Thr) c.4687T>A (p.Ser1563Thr) c.1011T>A c.1198T>A (p.Ser400Thr) c.4407T>A (n.4407T>A) c.937T>A (p.Ser313Thr) c.5-10431T>A (n.5-10431T>A) c.97T>A (p.Ser33Thr) c.-98-24192T>A (n.-98-24192T>A) n.4760T>A n.4801T>A	dbSNP
17	g.43074382_43074384delinsACT	CA2260774467	BRCA1	c.4619_4621delinsAGT (p.Glu1540=) c.4622_4624delinsAGT (p.Glu1541=) c.4496_4498delinsAGT (p.Glu1499=) c.4616_4618delinsAGT (p.Glu1539=) c.4544_4546delinsAGT (p.Glu1515=) c.1310_1312delinsAGT (p.Glu437=) c.1172_1174delinsAGT (p.Glu391=) c.3734_3736delinsAGT (p.Glu1245=) c.4499_4501delinsAGT (p.Glu1500=) c.4688_4690delinsAGT (p.Glu1563=) c.4481_4483delinsAGT (p.Glu1494=) c.1184_1186delinsAGT (p.Glu395=) c.1229_1231delinsAGT (p.Glu410=) c.4685_4687delinsAGT (p.Glu1562=) c.1009_1011delinsAGT c.1196_1198delinsAGT (p.Glu399=) c.4405_4407delinsAGT (n.4405_4407delinsAGT) c.935_937delinsAGT (p.Glu312=) c.5-10433_5-10431delinsAGT (n.5-10433_5-10431delinsAGT) c.95_97delinsAGT (p.Glu32=) c.-98-24194_-98-24192delinsAGT (n.-98-24194_-98-24192delinsAGT) n.4758_4760delinsAGT n.4799_4801delinsAGT
17	g.43074382_43074383insTC	CA2581463404	BRCA1	c.4620_4621insGA (p.Ser1541AspfsTer7) c.4623_4624insGA (p.Ser1542AspfsTer7) c.4497_4498insGA (p.Ser1500AspfsTer7) c.4617_4618insGA (p.Ser1540AspfsTer7) c.4545_4546insGA (p.Ser1516AspfsTer7) c.1311_1312insGA (p.Ser438AspfsTer7) c.1173_1174insGA (p.Ser392AspfsTer7) c.3735_3736insGA (p.Ser1246AspfsTer7) c.4500_4501insGA (p.Ser1501AspfsTer7) c.4689_4690insGA (p.Ser1564AspfsTer7) c.4482_4483insGA (p.Ser1495AspfsTer7) c.1185_1186insGA (p.Ser396AspfsTer7) c.1230_1231insGA (p.Ser411AspfsTer7) c.4686_4687insGA (p.Ser1563AspfsTer7) c.1010_1011insGA c.1197_1198insGA (p.Ser400AspfsTer7) c.4406_4407insGA (n.4406_4407insGA) c.936_937insGA (p.Ser313AspfsTer7) c.5-10432_5-10431insGA (n.5-10432_5-10431insGA) c.96_97insGA (p.Ser33AspfsTer7) c.-98-24193_-98-24192insGA (n.-98-24193_-98-24192insGA) n.4759_4760insGA n.4800_4801insGA
17	g.43074383C>A	CA10592263	BRCA1	c.4620G>T (p.Glu1540Asp) c.4623G>T (p.Glu1541Asp) c.4497G>T (p.Glu1499Asp) c.4617G>T (p.Glu1539Asp) c.4545G>T (p.Glu1515Asp) c.1311G>T (p.Glu437Asp) c.1173G>T (p.Glu391Asp) c.3735G>T (p.Glu1245Asp) c.4500G>T (p.Glu1500Asp) c.4689G>T (p.Glu1563Asp) c.4482G>T (p.Glu1494Asp) c.1185G>T (p.Glu395Asp) c.1230G>T (p.Glu410Asp) c.4686G>T (p.Glu1562Asp) c.1010G>T c.1197G>T (p.Glu399Asp) c.4406G>T (n.4406G>T) c.936G>T (p.Glu312Asp) c.5-10432G>T (n.5-10432G>T) c.96G>T (p.Glu32Asp) c.-98-24193G>T (n.-98-24193G>T) n.4759G>T n.4800G>T
17	g.43074383C>G	CA10592264	BRCA1	c.4620G>C (p.Glu1540Asp) c.4623G>C (p.Glu1541Asp) c.4497G>C (p.Glu1499Asp) c.4617G>C (p.Glu1539Asp) c.4545G>C (p.Glu1515Asp) c.1311G>C (p.Glu437Asp) c.1173G>C (p.Glu391Asp) c.3735G>C (p.Glu1245Asp) c.4500G>C (p.Glu1500Asp) c.4689G>C (p.Glu1563Asp) c.4482G>C (p.Glu1494Asp) c.1185G>C (p.Glu395Asp) c.1230G>C (p.Glu410Asp) c.4686G>C (p.Glu1562Asp) c.1010G>C c.1197G>C (p.Glu399Asp) c.4406G>C (n.4406G>C) c.936G>C (p.Glu312Asp) c.5-10432G>C (n.5-10432G>C) c.96G>C (p.Glu32Asp) c.-98-24193G>C (n.-98-24193G>C) n.4759G>C n.4800G>C	ClinVar dbSNP
17	g.43074383C>T	CA500146552	BRCA1	c.4620G>A (p.Glu1540=) c.4623G>A (p.Glu1541=) c.4497G>A (p.Glu1499=) c.4617G>A (p.Glu1539=) c.4545G>A (p.Glu1515=) c.1311G>A (p.Glu437=) c.1173G>A (p.Glu391=) c.3735G>A (p.Glu1245=) c.4500G>A (p.Glu1500=) c.4689G>A (p.Glu1563=) c.4482G>A (p.Glu1494=) c.1185G>A (p.Glu395=) c.1230G>A (p.Glu410=) c.4686G>A (p.Glu1562=) c.1010G>A c.1197G>A (p.Glu399=) c.4406G>A (n.4406G>A) c.936G>A (p.Glu312=) c.5-10432G>A (n.5-10432G>A) c.96G>A (p.Glu32=) c.-98-24193G>A (n.-98-24193G>A) n.4759G>A n.4800G>A	gnomAD v4
17	g.43074385_43074386del	CA10589651	BRCA1	c.4619_4620del (p.Glu1540ValfsTer?) c.4622_4623del (p.Glu1541ValfsTer?) c.4496_4497del (p.Glu1499ValfsTer?) c.4616_4617del (p.Glu1539ValfsTer?) c.4544_4545del (p.Glu1515ValfsTer?) c.1310_1311del (p.Glu437ValfsTer?) c.1172_1173del (p.Glu391ValfsTer?) c.3734_3735del (p.Glu1245ValfsTer?) c.4499_4500del (p.Glu1500ValfsTer?) c.4688_4689del (p.Glu1563ValfsTer?) c.4481_4482del (p.Glu1494ValfsTer?) c.1184_1185del (p.Glu395ValfsTer?) c.1229_1230del (p.Glu410ValfsTer?) c.4685_4686del (p.Glu1562ValfsTer?) c.1009_1010del c.1196_1197del (p.Glu399ValfsTer?) c.4405_4406del (n.4405_4406del) c.935_936del (p.Glu312ValfsTer?) c.5-10433_5-10432del (n.5-10433_5-10432del) c.95_96del (p.Glu32ValfsTer?) c.-98-24194_-98-24193del (n.-98-24194_-98-24193del) n.4758_4759del n.4799_4800del	ClinVar dbSNP gnomAD v4
17	g.43074384T>A	CA10592265	BRCA1	c.4619A>T (p.Glu1540Val) c.4622A>T (p.Glu1541Val) c.4496A>T (p.Glu1499Val) c.4616A>T (p.Glu1539Val) c.4544A>T (p.Glu1515Val) c.1310A>T (p.Glu437Val) c.1172A>T (p.Glu391Val) c.3734A>T (p.Glu1245Val) c.4499A>T (p.Glu1500Val) c.4688A>T (p.Glu1563Val) c.4481A>T (p.Glu1494Val) c.1184A>T (p.Glu395Val) c.1229A>T (p.Glu410Val) c.4685A>T (p.Glu1562Val) c.1009A>T c.1196A>T (p.Glu399Val) c.4405A>T (n.4405A>T) c.935A>T (p.Glu312Val) c.5-10433A>T (n.5-10433A>T) c.95A>T (p.Glu32Val) c.-98-24194A>T (n.-98-24194A>T) n.4758A>T n.4799A>T	dbSNP
17	g.43074384T>C	CA10592266	BRCA1	c.4619A>G (p.Glu1540Gly) c.4622A>G (p.Glu1541Gly) c.4496A>G (p.Glu1499Gly) c.4616A>G (p.Glu1539Gly) c.4544A>G (p.Glu1515Gly) c.1310A>G (p.Glu437Gly) c.1172A>G (p.Glu391Gly) c.3734A>G (p.Glu1245Gly) c.4499A>G (p.Glu1500Gly) c.4688A>G (p.Glu1563Gly) c.4481A>G (p.Glu1494Gly) c.1184A>G (p.Glu395Gly) c.1229A>G (p.Glu410Gly) c.4685A>G (p.Glu1562Gly) c.1009A>G c.1196A>G (p.Glu399Gly) c.4405A>G (n.4405A>G) c.935A>G (p.Glu312Gly) c.5-10433A>G (n.5-10433A>G) c.95A>G (p.Glu32Gly) c.-98-24194A>G (n.-98-24194A>G) n.4758A>G n.4799A>G
17	g.43074384T>G	CA10592267	BRCA1	c.4619A>C (p.Glu1540Ala) c.4622A>C (p.Glu1541Ala) c.4496A>C (p.Glu1499Ala) c.4616A>C (p.Glu1539Ala) c.4544A>C (p.Glu1515Ala) c.1310A>C (p.Glu437Ala) c.1172A>C (p.Glu391Ala) c.3734A>C (p.Glu1245Ala) c.4499A>C (p.Glu1500Ala) c.4688A>C (p.Glu1563Ala) c.4481A>C (p.Glu1494Ala) c.1184A>C (p.Glu395Ala) c.1229A>C (p.Glu410Ala) c.4685A>C (p.Glu1562Ala) c.1009A>C c.1196A>C (p.Glu399Ala) c.4405A>C (n.4405A>C) c.935A>C (p.Glu312Ala) c.5-10433A>C (n.5-10433A>C) c.95A>C (p.Glu32Ala) c.-98-24194A>C (n.-98-24194A>C) n.4758A>C n.4799A>C
17	g.43074384_43074388delinsTCTTC	CA2260774468	BRCA1	c.4615_4619delinsGAAGA (p.Glu1539=) c.4618_4622delinsGAAGA (p.Glu1540=) c.4492_4496delinsGAAGA (p.Glu1498=) c.4612_4616delinsGAAGA (p.Glu1538=) c.4540_4544delinsGAAGA (p.Glu1514=) c.1306_1310delinsGAAGA (p.Glu436=) c.1168_1172delinsGAAGA (p.Glu390=) c.3730_3734delinsGAAGA (p.Glu1244=) c.4495_4499delinsGAAGA (p.Glu1499=) c.4684_4688delinsGAAGA (p.Glu1562=) c.4477_4481delinsGAAGA (p.Glu1493=) c.1180_1184delinsGAAGA (p.Glu394=) c.1225_1229delinsGAAGA (p.Glu409=) c.4681_4685delinsGAAGA (p.Glu1561=) c.1005_1009delinsGAAGA c.1192_1196delinsGAAGA (p.Glu398=) c.4401_4405delinsGAAGA (n.4401_4405delinsGAAGA) c.931_935delinsGAAGA (p.Glu311=) c.5-10437_5-10433delinsGAAGA (n.5-10437_5-10433delinsGAAGA) c.91_95delinsGAAGA (p.Glu31=) c.-98-24198_-98-24194delinsGAAGA (n.-98-24198_-98-24194delinsGAAGA) n.4754_4758delinsGAAGA n.4795_4799delinsGAAGA
17	g.43074385del	CA2697559971	BRCA1	c.4618del (p.Glu1540SerfsTer7) c.4621del (p.Glu1541SerfsTer7) c.4495del (p.Glu1499SerfsTer7) c.4615del (p.Glu1539SerfsTer7) c.4543del (p.Glu1515SerfsTer7) c.1309del (p.Glu437SerfsTer7) c.1171del (p.Glu391SerfsTer7) c.3733del (p.Glu1245SerfsTer7) c.4498del (p.Glu1500SerfsTer7) c.4687del (p.Glu1563SerfsTer7) c.4480del (p.Glu1494SerfsTer7) c.1183del (p.Glu395SerfsTer7) c.1228del (p.Glu410SerfsTer7) c.4684del (p.Glu1562SerfsTer7) c.1008del c.1195del (p.Glu399SerfsTer7) c.4404del (n.4404del) c.934del (p.Glu312SerfsTer7) c.5-10434del (n.5-10434del) c.94del (p.Glu32SerfsTer7) c.-98-24195del (n.-98-24195del) n.4757del n.4798del	ClinVar
17	g.43074385C>A	CA002931	BRCA1	c.4618G>T (p.Glu1540Ter) c.4621G>T (p.Glu1541Ter) c.4495G>T (p.Glu1499Ter) c.4615G>T (p.Glu1539Ter) c.4543G>T (p.Glu1515Ter) c.1309G>T (p.Glu437Ter) c.1171G>T (p.Glu391Ter) c.3733G>T (p.Glu1245Ter) c.4498G>T (p.Glu1500Ter) c.4687G>T (p.Glu1563Ter) c.4480G>T (p.Glu1494Ter) c.1183G>T (p.Glu395Ter) c.1228G>T (p.Glu410Ter) c.4684G>T (p.Glu1562Ter) c.1008G>T c.1195G>T (p.Glu399Ter) c.4404G>T (n.4404G>T) c.934G>T (p.Glu312Ter) c.5-10434G>T (n.5-10434G>T) c.94G>T (p.Glu32Ter) c.-98-24195G>T (n.-98-24195G>T) n.4757G>T n.4798G>T	ClinVar dbSNP
17	g.43074385C=	CA2260774469	BRCA1	c.4618G= (p.Glu1540=) c.4621G= (p.Glu1541=) c.4495G= (p.Glu1499=) c.4615G= (p.Glu1539=) c.4543G= (p.Glu1515=) c.1309G= (p.Glu437=) c.1171G= (p.Glu391=) c.3733G= (p.Glu1245=) c.4498G= (p.Glu1500=) c.4687G= (p.Glu1563=) c.4480G= (p.Glu1494=) c.1183G= (p.Glu395=) c.1228G= (p.Glu410=) c.4684G= (p.Glu1562=) c.1008G= c.1195G= (p.Glu399=) c.4404G= (n.4404G=) c.934G= (p.Glu312=) c.5-10434G= (n.5-10434G=) c.94G= (p.Glu32=) c.-98-24195G= (n.-98-24195G=) n.4757G= n.4798G=
17	g.43074385C>G	CA10592268	BRCA1	c.4618G>C (p.Glu1540Gln) c.4621G>C (p.Glu1541Gln) c.4495G>C (p.Glu1499Gln) c.4615G>C (p.Glu1539Gln) c.4543G>C (p.Glu1515Gln) c.1309G>C (p.Glu437Gln) c.1171G>C (p.Glu391Gln) c.3733G>C (p.Glu1245Gln) c.4498G>C (p.Glu1500Gln) c.4687G>C (p.Glu1563Gln) c.4480G>C (p.Glu1494Gln) c.1183G>C (p.Glu395Gln) c.1228G>C (p.Glu410Gln) c.4684G>C (p.Glu1562Gln) c.1008G>C c.1195G>C (p.Glu399Gln) c.4404G>C (n.4404G>C) c.934G>C (p.Glu312Gln) c.5-10434G>C (n.5-10434G>C) c.94G>C (p.Glu32Gln) c.-98-24195G>C (n.-98-24195G>C) n.4757G>C n.4798G>C	ClinVar dbSNP
17	g.43074385C>T	CA10592269	BRCA1	c.4618G>A (p.Glu1540Lys) c.4621G>A (p.Glu1541Lys) c.4495G>A (p.Glu1499Lys) c.4615G>A (p.Glu1539Lys) c.4543G>A (p.Glu1515Lys) c.1309G>A (p.Glu437Lys) c.1171G>A (p.Glu391Lys) c.3733G>A (p.Glu1245Lys) c.4498G>A (p.Glu1500Lys) c.4687G>A (p.Glu1563Lys) c.4480G>A (p.Glu1494Lys) c.1183G>A (p.Glu395Lys) c.1228G>A (p.Glu410Lys) c.4684G>A (p.Glu1562Lys) c.1008G>A c.1195G>A (p.Glu399Lys) c.4404G>A (n.4404G>A) c.934G>A (p.Glu312Lys) c.5-10434G>A (n.5-10434G>A) c.94G>A (p.Glu32Lys) c.-98-24195G>A (n.-98-24195G>A) n.4757G>A n.4798G>A	dbSNP
17	g.43074385_43074388delinsTTT	CA10589652	BRCA1	c.4615_4618delinsAAA (p.Glu1539LysfsTer8) c.4618_4621delinsAAA (p.Glu1540LysfsTer8) c.4492_4495delinsAAA (p.Glu1498LysfsTer8) c.4612_4615delinsAAA (p.Glu1538LysfsTer8) c.4540_4543delinsAAA (p.Glu1514LysfsTer8) c.1306_1309delinsAAA (p.Glu436LysfsTer8) c.1168_1171delinsAAA (p.Glu390LysfsTer8) c.3730_3733delinsAAA (p.Glu1244LysfsTer8) c.4495_4498delinsAAA (p.Glu1499LysfsTer8) c.4684_4687delinsAAA (p.Glu1562LysfsTer8) c.4477_4480delinsAAA (p.Glu1493LysfsTer8) c.1180_1183delinsAAA (p.Glu394LysfsTer8) c.1225_1228delinsAAA (p.Glu409LysfsTer8) c.4681_4684delinsAAA (p.Glu1561LysfsTer8) c.1005_1008delinsAAA c.1192_1195delinsAAA (p.Glu398LysfsTer8) c.4401_4404delinsAAA (n.4401_4404delinsAAA) c.931_934delinsAAA (p.Glu311LysfsTer8) c.5-10437_5-10434delinsAAA (n.5-10437_5-10434delinsAAA) c.91_94delinsAAA (p.Glu31LysfsTer8) c.-98-24198_-98-24195delinsAAA (n.-98-24198_-98-24195delinsAAA) n.4754_4757delinsAAA n.4795_4798delinsAAA	ClinVar dbSNP
17	g.43074386T>A	CA10592270	BRCA1	c.4617A>T (p.Glu1539Asp) c.4620A>T (p.Glu1540Asp) c.4494A>T (p.Glu1498Asp) c.4614A>T (p.Glu1538Asp) c.4542A>T (p.Glu1514Asp) c.1308A>T (p.Glu436Asp) c.1170A>T (p.Glu390Asp) c.3732A>T (p.Glu1244Asp) c.4497A>T (p.Glu1499Asp) c.4686A>T (p.Glu1562Asp) c.4479A>T (p.Glu1493Asp) c.1182A>T (p.Glu394Asp) c.1227A>T (p.Glu409Asp) c.4683A>T (p.Glu1561Asp) c.1007A>T c.1194A>T (p.Glu398Asp) c.4403A>T (n.4403A>T) c.933A>T (p.Glu311Asp) c.5-10435A>T (n.5-10435A>T) c.93A>T (p.Glu31Asp) c.-98-24196A>T (n.-98-24196A>T) n.4756A>T n.4797A>T	dbSNP
17	g.43074386T>C	CA052578	BRCA1	c.4617A>G (p.Glu1539=) c.4620A>G (p.Glu1540=) c.4494A>G (p.Glu1498=) c.4614A>G (p.Glu1538=) c.4542A>G (p.Glu1514=) c.1308A>G (p.Glu436=) c.1170A>G (p.Glu390=) c.3732A>G (p.Glu1244=) c.4497A>G (p.Glu1499=) c.4686A>G (p.Glu1562=) c.4479A>G (p.Glu1493=) c.1182A>G (p.Glu394=) c.1227A>G (p.Glu409=) c.4683A>G (p.Glu1561=) c.1007A>G c.1194A>G (p.Glu398=) c.4403A>G (n.4403A>G) c.933A>G (p.Glu311=) c.5-10435A>G (n.5-10435A>G) c.93A>G (p.Glu31=) c.-98-24196A>G (n.-98-24196A>G) n.4756A>G n.4797A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43074386T>G	CA10592271	BRCA1	c.4617A>C (p.Glu1539Asp) c.4620A>C (p.Glu1540Asp) c.4494A>C (p.Glu1498Asp) c.4614A>C (p.Glu1538Asp) c.4542A>C (p.Glu1514Asp) c.1308A>C (p.Glu436Asp) c.1170A>C (p.Glu390Asp) c.3732A>C (p.Glu1244Asp) c.4497A>C (p.Glu1499Asp) c.4686A>C (p.Glu1562Asp) c.4479A>C (p.Glu1493Asp) c.1182A>C (p.Glu394Asp) c.1227A>C (p.Glu409Asp) c.4683A>C (p.Glu1561Asp) c.1007A>C c.1194A>C (p.Glu398Asp) c.4403A>C (n.4403A>C) c.933A>C (p.Glu311Asp) c.5-10435A>C (n.5-10435A>C) c.93A>C (p.Glu31Asp) c.-98-24196A>C (n.-98-24196A>C) n.4756A>C n.4797A>C
17	g.43074386T=	CA2260774470	BRCA1	c.4617A= (p.Glu1539=) c.4620A= (p.Glu1540=) c.4494A= (p.Glu1498=) c.4614A= (p.Glu1538=) c.4542A= (p.Glu1514=) c.1308A= (p.Glu436=) c.1170A= (p.Glu390=) c.3732A= (p.Glu1244=) c.4497A= (p.Glu1499=) c.4686A= (p.Glu1562=) c.4479A= (p.Glu1493=) c.1182A= (p.Glu394=) c.1227A= (p.Glu409=) c.4683A= (p.Glu1561=) c.1007A= c.1194A= (p.Glu398=) c.4403A= (n.4403A=) c.933A= (p.Glu311=) c.5-10435A= (n.5-10435A=) c.93A= (p.Glu31=) c.-98-24196A= (n.-98-24196A=) n.4756A= n.4797A=
17	g.43074387T>A	CA10592272	BRCA1	c.4616A>T (p.Glu1539Val) c.4619A>T (p.Glu1540Val) c.4493A>T (p.Glu1498Val) c.4613A>T (p.Glu1538Val) c.4541A>T (p.Glu1514Val) c.1307A>T (p.Glu436Val) c.1169A>T (p.Glu390Val) c.3731A>T (p.Glu1244Val) c.4496A>T (p.Glu1499Val) c.4685A>T (p.Glu1562Val) c.4478A>T (p.Glu1493Val) c.1181A>T (p.Glu394Val) c.1226A>T (p.Glu409Val) c.4682A>T (p.Glu1561Val) c.1006A>T c.1193A>T (p.Glu398Val) c.4402A>T (n.4402A>T) c.932A>T (p.Glu311Val) c.5-10436A>T (n.5-10436A>T) c.92A>T (p.Glu31Val) c.-98-24197A>T (n.-98-24197A>T) n.4755A>T n.4796A>T
17	g.43074387T>C	CA10592273	BRCA1	c.4616A>G (p.Glu1539Gly) c.4619A>G (p.Glu1540Gly) c.4493A>G (p.Glu1498Gly) c.4613A>G (p.Glu1538Gly) c.4541A>G (p.Glu1514Gly) c.1307A>G (p.Glu436Gly) c.1169A>G (p.Glu390Gly) c.3731A>G (p.Glu1244Gly) c.4496A>G (p.Glu1499Gly) c.4685A>G (p.Glu1562Gly) c.4478A>G (p.Glu1493Gly) c.1181A>G (p.Glu394Gly) c.1226A>G (p.Glu409Gly) c.4682A>G (p.Glu1561Gly) c.1006A>G c.1193A>G (p.Glu398Gly) c.4402A>G (n.4402A>G) c.932A>G (p.Glu311Gly) c.5-10436A>G (n.5-10436A>G) c.92A>G (p.Glu31Gly) c.-98-24197A>G (n.-98-24197A>G) n.4755A>G n.4796A>G	ClinVar
17	g.43074387T>G	CA10592274	BRCA1	c.4616A>C (p.Glu1539Ala) c.4619A>C (p.Glu1540Ala) c.4493A>C (p.Glu1498Ala) c.4613A>C (p.Glu1538Ala) c.4541A>C (p.Glu1514Ala) c.1307A>C (p.Glu436Ala) c.1169A>C (p.Glu390Ala) c.3731A>C (p.Glu1244Ala) c.4496A>C (p.Glu1499Ala) c.4685A>C (p.Glu1562Ala) c.4478A>C (p.Glu1493Ala) c.1181A>C (p.Glu394Ala) c.1226A>C (p.Glu409Ala) c.4682A>C (p.Glu1561Ala) c.1006A>C c.1193A>C (p.Glu398Ala) c.4402A>C (n.4402A>C) c.932A>C (p.Glu311Ala) c.5-10436A>C (n.5-10436A>C) c.92A>C (p.Glu31Ala) c.-98-24197A>C (n.-98-24197A>C) n.4755A>C n.4796A>C
17	g.43074388C>A	CA002930	BRCA1	c.4615G>T (p.Glu1539Ter) c.4618G>T (p.Glu1540Ter) c.4492G>T (p.Glu1498Ter) c.4612G>T (p.Glu1538Ter) c.4540G>T (p.Glu1514Ter) c.1306G>T (p.Glu436Ter) c.1168G>T (p.Glu390Ter) c.3730G>T (p.Glu1244Ter) c.4495G>T (p.Glu1499Ter) c.4684G>T (p.Glu1562Ter) c.4477G>T (p.Glu1493Ter) c.1180G>T (p.Glu394Ter) c.1225G>T (p.Glu409Ter) c.4681G>T (p.Glu1561Ter) c.1005G>T c.1192G>T (p.Glu398Ter) c.4401G>T (n.4401G>T) c.931G>T (p.Glu311Ter) c.5-10437G>T (n.5-10437G>T) c.91G>T (p.Glu31Ter) c.-98-24198G>T (n.-98-24198G>T) n.4754G>T n.4795G>T	ClinVar dbSNP
17	g.43074388C=	CA2260774471	BRCA1	c.4615G= (p.Glu1539=) c.4618G= (p.Glu1540=) c.4492G= (p.Glu1498=) c.4612G= (p.Glu1538=) c.4540G= (p.Glu1514=) c.1306G= (p.Glu436=) c.1168G= (p.Glu390=) c.3730G= (p.Glu1244=) c.4495G= (p.Glu1499=) c.4684G= (p.Glu1562=) c.4477G= (p.Glu1493=) c.1180G= (p.Glu394=) c.1225G= (p.Glu409=) c.4681G= (p.Glu1561=) c.1005G= c.1192G= (p.Glu398=) c.4401G= (n.4401G=) c.931G= (p.Glu311=) c.5-10437G= (n.5-10437G=) c.91G= (p.Glu31=) c.-98-24198G= (n.-98-24198G=) n.4754G= n.4795G=
17	g.43074388C>G	CA10592275	BRCA1	c.4615G>C (p.Glu1539Gln) c.4618G>C (p.Glu1540Gln) c.4492G>C (p.Glu1498Gln) c.4612G>C (p.Glu1538Gln) c.4540G>C (p.Glu1514Gln) c.1306G>C (p.Glu436Gln) c.1168G>C (p.Glu390Gln) c.3730G>C (p.Glu1244Gln) c.4495G>C (p.Glu1499Gln) c.4684G>C (p.Glu1562Gln) c.4477G>C (p.Glu1493Gln) c.1180G>C (p.Glu394Gln) c.1225G>C (p.Glu409Gln) c.4681G>C (p.Glu1561Gln) c.1005G>C c.1192G>C (p.Glu398Gln) c.4401G>C (n.4401G>C) c.931G>C (p.Glu311Gln) c.5-10437G>C (n.5-10437G>C) c.91G>C (p.Glu31Gln) c.-98-24198G>C (n.-98-24198G>C) n.4754G>C n.4795G>C	ClinVar dbSNP gnomAD v4
17	g.43074388C>T	CA10592276	BRCA1	c.4615G>A (p.Glu1539Lys) c.4618G>A (p.Glu1540Lys) c.4492G>A (p.Glu1498Lys) c.4612G>A (p.Glu1538Lys) c.4540G>A (p.Glu1514Lys) c.1306G>A (p.Glu436Lys) c.1168G>A (p.Glu390Lys) c.3730G>A (p.Glu1244Lys) c.4495G>A (p.Glu1499Lys) c.4684G>A (p.Glu1562Lys) c.4477G>A (p.Glu1493Lys) c.1180G>A (p.Glu394Lys) c.1225G>A (p.Glu409Lys) c.4681G>A (p.Glu1561Lys) c.1005G>A c.1192G>A (p.Glu398Lys) c.4401G>A (n.4401G>A) c.931G>A (p.Glu311Lys) c.5-10437G>A (n.5-10437G>A) c.91G>A (p.Glu31Lys) c.-98-24198G>A (n.-98-24198G>A) n.4754G>A n.4795G>A	ClinVar
17	g.43074388_43074389delinsAA	CA658761209	BRCA1	c.4614_4615delinsTT (p.Leu1539Ter) c.4617_4618delinsTT (p.Leu1540Ter) c.4491_4492delinsTT (p.Leu1498Ter) c.4611_4612delinsTT (p.Leu1538Ter) c.4539_4540delinsTT (p.Leu1514Ter) c.1305_1306delinsTT (p.Leu436Ter) c.1167_1168delinsTT (p.Leu390Ter) c.3729_3730delinsTT (p.Leu1244Ter) c.4494_4495delinsTT (p.Leu1499Ter) c.4683_4684delinsTT (p.Leu1562Ter) c.4476_4477delinsTT (p.Leu1493Ter) c.1179_1180delinsTT (p.Leu394Ter) c.1224_1225delinsTT (p.Leu409Ter) c.4680_4681delinsTT (p.Leu1561Ter) c.1004_1005delinsTT c.1191_1192delinsTT (p.Leu398Ter) c.4400_4401delinsTT (n.4400_4401delinsTT) c.930_931delinsTT (p.Leu311Ter) c.5-10438_5-10437delinsTT (n.5-10438_5-10437delinsTT) c.90_91delinsTT (p.Leu31Ter) c.-98-24199_-98-24198delinsTT (n.-98-24199_-98-24198delinsTT) n.4753_4754delinsTT n.4794_4795delinsTT
17	g.43074389C>A	CA500146562	BRCA1	c.4614G>T (p.Leu1538=) c.4617G>T (p.Leu1539=) c.4491G>T (p.Leu1497=) c.4611G>T (p.Leu1537=) c.4539G>T (p.Leu1513=) c.1305G>T (p.Leu435=) c.1167G>T (p.Leu389=) c.3729G>T (p.Leu1243=) c.4494G>T (p.Leu1498=) c.4683G>T (p.Leu1561=) c.4476G>T (p.Leu1492=) c.1179G>T (p.Leu393=) c.1224G>T (p.Leu408=) c.4680G>T (p.Leu1560=) c.1004G>T c.1191G>T (p.Leu397=) c.4400G>T (n.4400G>T) c.930G>T (p.Leu310=) c.5-10438G>T (n.5-10438G>T) c.90G>T (p.Leu30=) c.-98-24199G>T (n.-98-24199G>T) n.4753G>T n.4794G>T
17	g.43074389C=	CA2260774472	BRCA1	c.4614G= (p.Leu1538=) c.4617G= (p.Leu1539=) c.4491G= (p.Leu1497=) c.4611G= (p.Leu1537=) c.4539G= (p.Leu1513=) c.1305G= (p.Leu435=) c.1167G= (p.Leu389=) c.3729G= (p.Leu1243=) c.4494G= (p.Leu1498=) c.4683G= (p.Leu1561=) c.4476G= (p.Leu1492=) c.1179G= (p.Leu393=) c.1224G= (p.Leu408=) c.4680G= (p.Leu1560=) c.1004G= c.1191G= (p.Leu397=) c.4400G= (n.4400G=) c.930G= (p.Leu310=) c.5-10438G= (n.5-10438G=) c.90G= (p.Leu30=) c.-98-24199G= (n.-98-24199G=) n.4753G= n.4794G=
17	g.43074389C>G	CA500146564	BRCA1	c.4614G>C (p.Leu1538=) c.4617G>C (p.Leu1539=) c.4491G>C (p.Leu1497=) c.4611G>C (p.Leu1537=) c.4539G>C (p.Leu1513=) c.1305G>C (p.Leu435=) c.1167G>C (p.Leu389=) c.3729G>C (p.Leu1243=) c.4494G>C (p.Leu1498=) c.4683G>C (p.Leu1561=) c.4476G>C (p.Leu1492=) c.1179G>C (p.Leu393=) c.1224G>C (p.Leu408=) c.4680G>C (p.Leu1560=) c.1004G>C c.1191G>C (p.Leu397=) c.4400G>C (n.4400G>C) c.930G>C (p.Leu310=) c.5-10438G>C (n.5-10438G>C) c.90G>C (p.Leu30=) c.-98-24199G>C (n.-98-24199G>C) n.4753G>C n.4794G>C	dbSNP
17	g.43074389C>T	CA500146566	BRCA1	c.4614G>A (p.Leu1538=) c.4617G>A (p.Leu1539=) c.4491G>A (p.Leu1497=) c.4611G>A (p.Leu1537=) c.4539G>A (p.Leu1513=) c.1305G>A (p.Leu435=) c.1167G>A (p.Leu389=) c.3729G>A (p.Leu1243=) c.4494G>A (p.Leu1498=) c.4683G>A (p.Leu1561=) c.4476G>A (p.Leu1492=) c.1179G>A (p.Leu393=) c.1224G>A (p.Leu408=) c.4680G>A (p.Leu1560=) c.1004G>A c.1191G>A (p.Leu397=) c.4400G>A (n.4400G>A) c.930G>A (p.Leu310=) c.5-10438G>A (n.5-10438G>A) c.90G>A (p.Leu30=) c.-98-24199G>A (n.-98-24199G>A) n.4753G>A n.4794G>A	ClinVar dbSNP
17	g.43074390A=	CA2260774473	BRCA1	c.4613T= (p.Leu1538=) c.4616T= (p.Leu1539=) c.4490T= (p.Leu1497=) c.4610T= (p.Leu1537=) c.4538T= (p.Leu1513=) c.1304T= (p.Leu435=) c.1166T= (p.Leu389=) c.3728T= (p.Leu1243=) c.4493T= (p.Leu1498=) c.4682T= (p.Leu1561=) c.4475T= (p.Leu1492=) c.1178T= (p.Leu393=) c.1223T= (p.Leu408=) c.4679T= (p.Leu1560=) c.1003T= c.1190T= (p.Leu397=) c.4399T= (n.4399T=) c.929T= (p.Leu310=) c.5-10439T= (n.5-10439T=) c.89T= (p.Leu30=) c.-98-24200T= (n.-98-24200T=) n.4752T= n.4793T=
17	g.43074390A>C	CA10592277	BRCA1	c.4613T>G (p.Leu1538Arg) c.4616T>G (p.Leu1539Arg) c.4490T>G (p.Leu1497Arg) c.4610T>G (p.Leu1537Arg) c.4538T>G (p.Leu1513Arg) c.1304T>G (p.Leu435Arg) c.1166T>G (p.Leu389Arg) c.3728T>G (p.Leu1243Arg) c.4493T>G (p.Leu1498Arg) c.4682T>G (p.Leu1561Arg) c.4475T>G (p.Leu1492Arg) c.1178T>G (p.Leu393Arg) c.1223T>G (p.Leu408Arg) c.4679T>G (p.Leu1560Arg) c.1003T>G c.1190T>G (p.Leu397Arg) c.4399T>G (n.4399T>G) c.929T>G (p.Leu310Arg) c.5-10439T>G (n.5-10439T>G) c.89T>G (p.Leu30Arg) c.-98-24200T>G (n.-98-24200T>G) n.4752T>G n.4793T>G
17	g.43074390A>G	CA10592278	BRCA1	c.4613T>C (p.Leu1538Pro) c.4616T>C (p.Leu1539Pro) c.4490T>C (p.Leu1497Pro) c.4610T>C (p.Leu1537Pro) c.4538T>C (p.Leu1513Pro) c.1304T>C (p.Leu435Pro) c.1166T>C (p.Leu389Pro) c.3728T>C (p.Leu1243Pro) c.4493T>C (p.Leu1498Pro) c.4682T>C (p.Leu1561Pro) c.4475T>C (p.Leu1492Pro) c.1178T>C (p.Leu393Pro) c.1223T>C (p.Leu408Pro) c.4679T>C (p.Leu1560Pro) c.1003T>C c.1190T>C (p.Leu397Pro) c.4399T>C (n.4399T>C) c.929T>C (p.Leu310Pro) c.5-10439T>C (n.5-10439T>C) c.89T>C (p.Leu30Pro) c.-98-24200T>C (n.-98-24200T>C) n.4752T>C n.4793T>C	ClinVar dbSNP gnomAD v4
17	g.43074390A>T	CA10592279	BRCA1	c.4613T>A (p.Leu1538Gln) c.4616T>A (p.Leu1539Gln) c.4490T>A (p.Leu1497Gln) c.4610T>A (p.Leu1537Gln) c.4538T>A (p.Leu1513Gln) c.1304T>A (p.Leu435Gln) c.1166T>A (p.Leu389Gln) c.3728T>A (p.Leu1243Gln) c.4493T>A (p.Leu1498Gln) c.4682T>A (p.Leu1561Gln) c.4475T>A (p.Leu1492Gln) c.1178T>A (p.Leu393Gln) c.1223T>A (p.Leu408Gln) c.4679T>A (p.Leu1560Gln) c.1003T>A c.1190T>A (p.Leu397Gln) c.4399T>A (n.4399T>A) c.929T>A (p.Leu310Gln) c.5-10439T>A (n.5-10439T>A) c.89T>A (p.Leu30Gln) c.-98-24200T>A (n.-98-24200T>A) n.4752T>A n.4793T>A	dbSNP
17	g.43074390dup	CA658656631	BRCA1	c.4613dup (p.Glu1539GlyfsTer?) c.4616dup (p.Glu1540GlyfsTer?) c.4490dup (p.Glu1498GlyfsTer?) c.4610dup (p.Glu1538GlyfsTer?) c.4538dup (p.Glu1514GlyfsTer?) c.1304dup (p.Glu436GlyfsTer?) c.1166dup (p.Glu390GlyfsTer?) c.3728dup (p.Glu1244GlyfsTer?) c.4493dup (p.Glu1499GlyfsTer?) c.4682dup (p.Glu1562GlyfsTer?) c.4475dup (p.Glu1493GlyfsTer?) c.1178dup (p.Glu394GlyfsTer?) c.1223dup (p.Glu409GlyfsTer?) c.4679dup (p.Glu1561GlyfsTer?) c.1003dup c.1190dup (p.Glu398GlyfsTer?) c.4399dup (n.4399dup) c.929dup (p.Glu311GlyfsTer?) c.5-10439dup (n.5-10439dup) c.89dup (p.Glu31GlyfsTer?) c.-98-24200dup (n.-98-24200dup) n.4752dup n.4793dup	ClinVar dbSNP
17	g.43074391G>A	CA500146568	BRCA1	c.4612C>T (p.Leu1538=) c.4615C>T (p.Leu1539=) c.4489C>T (p.Leu1497=) c.4609C>T (p.Leu1537=) c.4537C>T (p.Leu1513=) c.1303C>T (p.Leu435=) c.1165C>T (p.Leu389=) c.3727C>T (p.Leu1243=) c.4492C>T (p.Leu1498=) c.4681C>T (p.Leu1561=) c.4474C>T (p.Leu1492=) c.1177C>T (p.Leu393=) c.1222C>T (p.Leu408=) c.4678C>T (p.Leu1560=) c.1002C>T c.1189C>T (p.Leu397=) c.4398C>T (n.4398C>T) c.928C>T (p.Leu310=) c.5-10440C>T (n.5-10440C>T) c.88C>T (p.Leu30=) c.-98-24201C>T (n.-98-24201C>T) n.4751C>T n.4792C>T	dbSNP gnomAD v4
17	g.43074391G>C	CA10592280	BRCA1	c.4612C>G (p.Leu1538Val) c.4615C>G (p.Leu1539Val) c.4489C>G (p.Leu1497Val) c.4609C>G (p.Leu1537Val) c.4537C>G (p.Leu1513Val) c.1303C>G (p.Leu435Val) c.1165C>G (p.Leu389Val) c.3727C>G (p.Leu1243Val) c.4492C>G (p.Leu1498Val) c.4681C>G (p.Leu1561Val) c.4474C>G (p.Leu1492Val) c.1177C>G (p.Leu393Val) c.1222C>G (p.Leu408Val) c.4678C>G (p.Leu1560Val) c.1002C>G c.1189C>G (p.Leu397Val) c.4398C>G (n.4398C>G) c.928C>G (p.Leu310Val) c.5-10440C>G (n.5-10440C>G) c.88C>G (p.Leu30Val) c.-98-24201C>G (n.-98-24201C>G) n.4751C>G n.4792C>G	dbSNP
17	g.43074391G>T	CA10592281	BRCA1	c.4612C>A (p.Leu1538Met) c.4615C>A (p.Leu1539Met) c.4489C>A (p.Leu1497Met) c.4609C>A (p.Leu1537Met) c.4537C>A (p.Leu1513Met) c.1303C>A (p.Leu435Met) c.1165C>A (p.Leu389Met) c.3727C>A (p.Leu1243Met) c.4492C>A (p.Leu1498Met) c.4681C>A (p.Leu1561Met) c.4474C>A (p.Leu1492Met) c.1177C>A (p.Leu393Met) c.1222C>A (p.Leu408Met) c.4678C>A (p.Leu1560Met) c.1002C>A c.1189C>A (p.Leu397Met) c.4398C>A (n.4398C>A) c.928C>A (p.Leu310Met) c.5-10440C>A (n.5-10440C>A) c.88C>A (p.Leu30Met) c.-98-24201C>A (n.-98-24201C>A) n.4751C>A n.4792C>A	dbSNP
17	g.43074391_43074392delinsAA	CA002929	BRCA1	c.4611_4612delinsTT (p.Gln1537His) c.4614_4615delinsTT (p.Gln1538His) c.4488_4489delinsTT (p.Gln1496His) c.4608_4609delinsTT (p.Gln1536His) c.4536_4537delinsTT (p.Gln1512His) c.1302_1303delinsTT (p.Gln434His) c.1164_1165delinsTT (p.Gln388His) c.3726_3727delinsTT (p.Gln1242His) c.4491_4492delinsTT (p.Gln1497His) c.4680_4681delinsTT (p.Gln1560His) c.4473_4474delinsTT (p.Gln1491His) c.1176_1177delinsTT (p.Gln392His) c.1221_1222delinsTT (p.Gln407His) c.4677_4678delinsTT (p.Gln1559His) c.1001_1002delinsTT c.1188_1189delinsTT (p.Gln396His) c.4397_4398delinsTT (n.4397_4398delinsTT) c.927_928delinsTT (p.Gln309His) c.5-10441_5-10440delinsTT (n.5-10441_5-10440delinsTT) c.87_88delinsTT (p.Gln29His) c.-98-24202_-98-24201delinsTT (n.-98-24202_-98-24201delinsTT) n.4750_4751delinsTT n.4791_4792delinsTT	ClinVar dbSNP
17	g.43074391_43074392delinsGC	CA2260774474	BRCA1	c.4611_4612delinsGC (p.Gln1537=) c.4614_4615delinsGC (p.Gln1538=) c.4488_4489delinsGC (p.Gln1496=) c.4608_4609delinsGC (p.Gln1536=) c.4536_4537delinsGC (p.Gln1512=) c.1302_1303delinsGC (p.Gln434=) c.1164_1165delinsGC (p.Gln388=) c.3726_3727delinsGC (p.Gln1242=) c.4491_4492delinsGC (p.Gln1497=) c.4680_4681delinsGC (p.Gln1560=) c.4473_4474delinsGC (p.Gln1491=) c.1176_1177delinsGC (p.Gln392=) c.1221_1222delinsGC (p.Gln407=) c.4677_4678delinsGC (p.Gln1559=) c.1001_1002delinsGC c.1188_1189delinsGC (p.Gln396=) c.4397_4398delinsGC (n.4397_4398delinsGC) c.927_928delinsGC (p.Gln309=) c.5-10441_5-10440delinsGC (n.5-10441_5-10440delinsGC) c.87_88delinsGC (p.Gln29=) c.-98-24202_-98-24201delinsGC (n.-98-24202_-98-24201delinsGC) n.4750_4751delinsGC n.4791_4792delinsGC
17	g.43074392C>A	CA10592282	BRCA1	c.4611G>T (p.Gln1537His) c.4614G>T (p.Gln1538His) c.4488G>T (p.Gln1496His) c.4608G>T (p.Gln1536His) c.4536G>T (p.Gln1512His) c.1302G>T (p.Gln434His) c.1164G>T (p.Gln388His) c.3726G>T (p.Gln1242His) c.4491G>T (p.Gln1497His) c.4680G>T (p.Gln1560His) c.4473G>T (p.Gln1491His) c.1176G>T (p.Gln392His) c.1221G>T (p.Gln407His) c.4677G>T (p.Gln1559His) c.1001G>T c.1188G>T (p.Gln396His) c.4397G>T (n.4397G>T) c.927G>T (p.Gln309His) c.5-10441G>T (n.5-10441G>T) c.87G>T (p.Gln29His) c.-98-24202G>T (n.-98-24202G>T) n.4750G>T n.4791G>T
17	g.43074392C=	CA2260774475	BRCA1	c.4611G= (p.Gln1537=) c.4614G= (p.Gln1538=) c.4488G= (p.Gln1496=) c.4608G= (p.Gln1536=) c.4536G= (p.Gln1512=) c.1302G= (p.Gln434=) c.1164G= (p.Gln388=) c.3726G= (p.Gln1242=) c.4491G= (p.Gln1497=) c.4680G= (p.Gln1560=) c.4473G= (p.Gln1491=) c.1176G= (p.Gln392=) c.1221G= (p.Gln407=) c.4677G= (p.Gln1559=) c.1001G= c.1188G= (p.Gln396=) c.4397G= (n.4397G=) c.927G= (p.Gln309=) c.5-10441G= (n.5-10441G=) c.87G= (p.Gln29=) c.-98-24202G= (n.-98-24202G=) n.4750G= n.4791G=
17	g.43074392C>G	CA10592283	BRCA1	c.4611G>C (p.Gln1537His) c.4614G>C (p.Gln1538His) c.4488G>C (p.Gln1496His) c.4608G>C (p.Gln1536His) c.4536G>C (p.Gln1512His) c.1302G>C (p.Gln434His) c.1164G>C (p.Gln388His) c.3726G>C (p.Gln1242His) c.4491G>C (p.Gln1497His) c.4680G>C (p.Gln1560His) c.4473G>C (p.Gln1491His) c.1176G>C (p.Gln392His) c.1221G>C (p.Gln407His) c.4677G>C (p.Gln1559His) c.1001G>C c.1188G>C (p.Gln396His) c.4397G>C (n.4397G>C) c.927G>C (p.Gln309His) c.5-10441G>C (n.5-10441G>C) c.87G>C (p.Gln29His) c.-98-24202G>C (n.-98-24202G>C) n.4750G>C n.4791G>C	dbSNP
17	g.43074392C>T	CA500146569	BRCA1	c.4611G>A (p.Gln1537=) c.4614G>A (p.Gln1538=) c.4488G>A (p.Gln1496=) c.4608G>A (p.Gln1536=) c.4536G>A (p.Gln1512=) c.1302G>A (p.Gln434=) c.1164G>A (p.Gln388=) c.3726G>A (p.Gln1242=) c.4491G>A (p.Gln1497=) c.4680G>A (p.Gln1560=) c.4473G>A (p.Gln1491=) c.1176G>A (p.Gln392=) c.1221G>A (p.Gln407=) c.4677G>A (p.Gln1559=) c.1001G>A c.1188G>A (p.Gln396=) c.4397G>A (n.4397G>A) c.927G>A (p.Gln309=) c.5-10441G>A (n.5-10441G>A) c.87G>A (p.Gln29=) c.-98-24202G>A (n.-98-24202G>A) n.4750G>A n.4791G>A	ClinVar dbSNP gnomAD v4
17	g.43074393T>A	CA10592284	BRCA1	c.4610A>T (p.Gln1537Leu) c.4613A>T (p.Gln1538Leu) c.4487A>T (p.Gln1496Leu) c.4607A>T (p.Gln1536Leu) c.4535A>T (p.Gln1512Leu) c.1301A>T (p.Gln434Leu) c.1163A>T (p.Gln388Leu) c.3725A>T (p.Gln1242Leu) c.4490A>T (p.Gln1497Leu) c.4679A>T (p.Gln1560Leu) c.4472A>T (p.Gln1491Leu) c.1175A>T (p.Gln392Leu) c.1220A>T (p.Gln407Leu) c.4676A>T (p.Gln1559Leu) c.1000A>T c.1187A>T (p.Gln396Leu) c.4396A>T (n.4396A>T) c.926A>T (p.Gln309Leu) c.5-10442A>T (n.5-10442A>T) c.86A>T (p.Gln29Leu) c.-98-24203A>T (n.-98-24203A>T) n.4749A>T n.4790A>T	dbSNP
17	g.43074393T>C	CA10592285	BRCA1	c.4610A>G (p.Gln1537Arg) c.4613A>G (p.Gln1538Arg) c.4487A>G (p.Gln1496Arg) c.4607A>G (p.Gln1536Arg) c.4535A>G (p.Gln1512Arg) c.1301A>G (p.Gln434Arg) c.1163A>G (p.Gln388Arg) c.3725A>G (p.Gln1242Arg) c.4490A>G (p.Gln1497Arg) c.4679A>G (p.Gln1560Arg) c.4472A>G (p.Gln1491Arg) c.1175A>G (p.Gln392Arg) c.1220A>G (p.Gln407Arg) c.4676A>G (p.Gln1559Arg) c.1000A>G c.1187A>G (p.Gln396Arg) c.4396A>G (n.4396A>G) c.926A>G (p.Gln309Arg) c.5-10442A>G (n.5-10442A>G) c.86A>G (p.Gln29Arg) c.-98-24203A>G (n.-98-24203A>G) n.4749A>G n.4790A>G	dbSNP
17	g.43074393T>G	CA10592286	BRCA1	c.4610A>C (p.Gln1537Pro) c.4613A>C (p.Gln1538Pro) c.4487A>C (p.Gln1496Pro) c.4607A>C (p.Gln1536Pro) c.4535A>C (p.Gln1512Pro) c.1301A>C (p.Gln434Pro) c.1163A>C (p.Gln388Pro) c.3725A>C (p.Gln1242Pro) c.4490A>C (p.Gln1497Pro) c.4679A>C (p.Gln1560Pro) c.4472A>C (p.Gln1491Pro) c.1175A>C (p.Gln392Pro) c.1220A>C (p.Gln407Pro) c.4676A>C (p.Gln1559Pro) c.1000A>C c.1187A>C (p.Gln396Pro) c.4396A>C (n.4396A>C) c.926A>C (p.Gln309Pro) c.5-10442A>C (n.5-10442A>C) c.86A>C (p.Gln29Pro) c.-98-24203A>C (n.-98-24203A>C) n.4749A>C n.4790A>C
17	g.43074393T=	CA2260774476	BRCA1	c.4610A= (p.Gln1537=) c.4613A= (p.Gln1538=) c.4487A= (p.Gln1496=) c.4607A= (p.Gln1536=) c.4535A= (p.Gln1512=) c.1301A= (p.Gln434=) c.1163A= (p.Gln388=) c.3725A= (p.Gln1242=) c.4490A= (p.Gln1497=) c.4679A= (p.Gln1560=) c.4472A= (p.Gln1491=) c.1175A= (p.Gln392=) c.1220A= (p.Gln407=) c.4676A= (p.Gln1559=) c.1000A= c.1187A= (p.Gln396=) c.4396A= (n.4396A=) c.926A= (p.Gln309=) c.5-10442A= (n.5-10442A=) c.86A= (p.Gln29=) c.-98-24203A= (n.-98-24203A=) n.4749A= n.4790A=
17	g.43074393_43074394insC	CA658825011	BRCA1	c.4609_4610insG (p.Gln1537ArgfsTer?) c.4612_4613insG (p.Gln1538ArgfsTer?) c.4486_4487insG (p.Gln1496ArgfsTer?) c.4606_4607insG (p.Gln1536ArgfsTer?) c.4534_4535insG (p.Gln1512ArgfsTer?) c.1300_1301insG (p.Gln434ArgfsTer?) c.1162_1163insG (p.Gln388ArgfsTer?) c.3724_3725insG (p.Gln1242ArgfsTer?) c.4489_4490insG (p.Gln1497ArgfsTer?) c.4678_4679insG (p.Gln1560ArgfsTer?) c.4471_4472insG (p.Gln1491ArgfsTer?) c.1174_1175insG (p.Gln392ArgfsTer?) c.1219_1220insG (p.Gln407ArgfsTer?) c.4675_4676insG (p.Gln1559ArgfsTer?) c.999_1000insG c.1186_1187insG (p.Gln396ArgfsTer?) c.4395_4396insG (n.4395_4396insG) c.925_926insG (p.Gln309ArgfsTer?) c.5-10443_5-10442insG (n.5-10443_5-10442insG) c.85_86insG (p.Gln29ArgfsTer?) c.-98-24204_-98-24203insG (n.-98-24204_-98-24203insG) n.4748_4749insG n.4789_4790insG	ClinVar dbSNP
17	g.43074394G>A	CA002928	BRCA1	c.4609C>T (p.Gln1537Ter) c.4612C>T (p.Gln1538Ter) c.4486C>T (p.Gln1496Ter) c.4606C>T (p.Gln1536Ter) c.4534C>T (p.Gln1512Ter) c.1300C>T (p.Gln434Ter) c.1162C>T (p.Gln388Ter) c.3724C>T (p.Gln1242Ter) c.4489C>T (p.Gln1497Ter) c.4678C>T (p.Gln1560Ter) c.4471C>T (p.Gln1491Ter) c.1174C>T (p.Gln392Ter) c.1219C>T (p.Gln407Ter) c.4675C>T (p.Gln1559Ter) c.999C>T c.1186C>T (p.Gln396Ter) c.4395C>T (n.4395C>T) c.925C>T (p.Gln309Ter) c.5-10443C>T (n.5-10443C>T) c.85C>T (p.Gln29Ter) c.-98-24204C>T (n.-98-24204C>T) n.4748C>T n.4789C>T	ClinVar dbSNP COSMIC
17	g.43074394G>C	CA10592287	BRCA1	c.4609C>G (p.Gln1537Glu) c.4612C>G (p.Gln1538Glu) c.4486C>G (p.Gln1496Glu) c.4606C>G (p.Gln1536Glu) c.4534C>G (p.Gln1512Glu) c.1300C>G (p.Gln434Glu) c.1162C>G (p.Gln388Glu) c.3724C>G (p.Gln1242Glu) c.4489C>G (p.Gln1497Glu) c.4678C>G (p.Gln1560Glu) c.4471C>G (p.Gln1491Glu) c.1174C>G (p.Gln392Glu) c.1219C>G (p.Gln407Glu) c.4675C>G (p.Gln1559Glu) c.999C>G c.1186C>G (p.Gln396Glu) c.4395C>G (n.4395C>G) c.925C>G (p.Gln309Glu) c.5-10443C>G (n.5-10443C>G) c.85C>G (p.Gln29Glu) c.-98-24204C>G (n.-98-24204C>G) n.4748C>G n.4789C>G	ClinVar dbSNP
17	g.43074394G=	CA2260774477	BRCA1	c.4609C= (p.Gln1537=) c.4612C= (p.Gln1538=) c.4486C= (p.Gln1496=) c.4606C= (p.Gln1536=) c.4534C= (p.Gln1512=) c.1300C= (p.Gln434=) c.1162C= (p.Gln388=) c.3724C= (p.Gln1242=) c.4489C= (p.Gln1497=) c.4678C= (p.Gln1560=) c.4471C= (p.Gln1491=) c.1174C= (p.Gln392=) c.1219C= (p.Gln407=) c.4675C= (p.Gln1559=) c.999C= c.1186C= (p.Gln396=) c.4395C= (n.4395C=) c.925C= (p.Gln309=) c.5-10443C= (n.5-10443C=) c.85C= (p.Gln29=) c.-98-24204C= (n.-98-24204C=) n.4748C= n.4789C=
17	g.43074394G>T	CA10592288	BRCA1	c.4609C>A (p.Gln1537Lys) c.4612C>A (p.Gln1538Lys) c.4486C>A (p.Gln1496Lys) c.4606C>A (p.Gln1536Lys) c.4534C>A (p.Gln1512Lys) c.1300C>A (p.Gln434Lys) c.1162C>A (p.Gln388Lys) c.3724C>A (p.Gln1242Lys) c.4489C>A (p.Gln1497Lys) c.4678C>A (p.Gln1560Lys) c.4471C>A (p.Gln1491Lys) c.1174C>A (p.Gln392Lys) c.1219C>A (p.Gln407Lys) c.4675C>A (p.Gln1559Lys) c.999C>A c.1186C>A (p.Gln396Lys) c.4395C>A (n.4395C>A) c.925C>A (p.Gln309Lys) c.5-10443C>A (n.5-10443C>A) c.85C>A (p.Gln29Lys) c.-98-24204C>A (n.-98-24204C>A) n.4748C>A n.4789C>A
17	g.43074394_43074395insC	CA002927	BRCA1	c.4608_4609insG (p.Gln1537AlafsTer?) c.4611_4612insG (p.Gln1538AlafsTer?) c.4485_4486insG (p.Gln1496AlafsTer?) c.4605_4606insG (p.Gln1536AlafsTer?) c.4533_4534insG (p.Gln1512AlafsTer?) c.1299_1300insG (p.Gln434AlafsTer?) c.1161_1162insG (p.Gln388AlafsTer?) c.3723_3724insG (p.Gln1242AlafsTer?) c.4488_4489insG (p.Gln1497AlafsTer?) c.4677_4678insG (p.Gln1560AlafsTer?) c.4470_4471insG (p.Gln1491AlafsTer?) c.1173_1174insG (p.Gln392AlafsTer?) c.1218_1219insG (p.Gln407AlafsTer?) c.4674_4675insG (p.Gln1559AlafsTer?) c.998_999insG c.1185_1186insG (p.Gln396AlafsTer?) c.4394_4395insG (n.4394_4395insG) c.924_925insG (p.Gln309AlafsTer?) c.5-10444_5-10443insG (n.5-10444_5-10443insG) c.84_85insG (p.Gln29AlafsTer?) c.-98-24205_-98-24204insG (n.-98-24205_-98-24204insG) n.4747_4748insG n.4788_4789insG	ClinVar dbSNP
17	g.43074395T>A	CA10592289	BRCA1	c.4608A>T (p.Gln1536His) c.4611A>T (p.Gln1537His) c.4485A>T (p.Gln1495His) c.4605A>T (p.Gln1535His) c.4533A>T (p.Gln1511His) c.1299A>T (p.Gln433His) c.1161A>T (p.Gln387His) c.3723A>T (p.Gln1241His) c.4488A>T (p.Gln1496His) c.4677A>T (p.Gln1559His) c.4470A>T (p.Gln1490His) c.1173A>T (p.Gln391His) c.1218A>T (p.Gln406His) c.4674A>T (p.Gln1558His) c.998A>T c.1185A>T (p.Gln395His) c.4394A>T (n.4394A>T) c.924A>T (p.Gln308His) c.5-10444A>T (n.5-10444A>T) c.84A>T (p.Gln28His) c.-98-24205A>T (n.-98-24205A>T) n.4747A>T n.4788A>T	ClinVar dbSNP
17	g.43074395T>C	CA500146573	BRCA1	c.4608A>G (p.Gln1536=) c.4611A>G (p.Gln1537=) c.4485A>G (p.Gln1495=) c.4605A>G (p.Gln1535=) c.4533A>G (p.Gln1511=) c.1299A>G (p.Gln433=) c.1161A>G (p.Gln387=) c.3723A>G (p.Gln1241=) c.4488A>G (p.Gln1496=) c.4677A>G (p.Gln1559=) c.4470A>G (p.Gln1490=) c.1173A>G (p.Gln391=) c.1218A>G (p.Gln406=) c.4674A>G (p.Gln1558=) c.998A>G c.1185A>G (p.Gln395=) c.4394A>G (n.4394A>G) c.924A>G (p.Gln308=) c.5-10444A>G (n.5-10444A>G) c.84A>G (p.Gln28=) c.-98-24205A>G (n.-98-24205A>G) n.4747A>G n.4788A>G	ClinVar dbSNP
17	g.43074395T>G	CA10592290	BRCA1	c.4608A>C (p.Gln1536His) c.4611A>C (p.Gln1537His) c.4485A>C (p.Gln1495His) c.4605A>C (p.Gln1535His) c.4533A>C (p.Gln1511His) c.1299A>C (p.Gln433His) c.1161A>C (p.Gln387His) c.3723A>C (p.Gln1241His) c.4488A>C (p.Gln1496His) c.4677A>C (p.Gln1559His) c.4470A>C (p.Gln1490His) c.1173A>C (p.Gln391His) c.1218A>C (p.Gln406His) c.4674A>C (p.Gln1558His) c.998A>C c.1185A>C (p.Gln395His) c.4394A>C (n.4394A>C) c.924A>C (p.Gln308His) c.5-10444A>C (n.5-10444A>C) c.84A>C (p.Gln28His) c.-98-24205A>C (n.-98-24205A>C) n.4747A>C n.4788A>C	dbSNP
17	g.43074395T=	CA2260774478	BRCA1	c.4608A= (p.Gln1536=) c.4611A= (p.Gln1537=) c.4485A= (p.Gln1495=) c.4605A= (p.Gln1535=) c.4533A= (p.Gln1511=) c.1299A= (p.Gln433=) c.1161A= (p.Gln387=) c.3723A= (p.Gln1241=) c.4488A= (p.Gln1496=) c.4677A= (p.Gln1559=) c.4470A= (p.Gln1490=) c.1173A= (p.Gln391=) c.1218A= (p.Gln406=) c.4674A= (p.Gln1558=) c.998A= c.1185A= (p.Gln395=) c.4394A= (n.4394A=) c.924A= (p.Gln308=) c.5-10444A= (n.5-10444A=) c.84A= (p.Gln28=) c.-98-24205A= (n.-98-24205A=) n.4747A= n.4788A=
17	g.43074395_43074396insGG	CA658825012	BRCA1	c.4607_4608insCC (p.Gln1536HisfsTer12) c.4610_4611insCC (p.Gln1537HisfsTer12) c.4484_4485insCC (p.Gln1495HisfsTer12) c.4604_4605insCC (p.Gln1535HisfsTer12) c.4532_4533insCC (p.Gln1511HisfsTer12) c.1298_1299insCC (p.Gln433HisfsTer12) c.1160_1161insCC (p.Gln387HisfsTer12) c.3722_3723insCC (p.Gln1241HisfsTer12) c.4487_4488insCC (p.Gln1496HisfsTer12) c.4676_4677insCC (p.Gln1559HisfsTer12) c.4469_4470insCC (p.Gln1490HisfsTer12) c.1172_1173insCC (p.Gln391HisfsTer12) c.1217_1218insCC (p.Gln406HisfsTer12) c.4673_4674insCC (p.Gln1558HisfsTer12) c.997_998insCC c.1184_1185insCC (p.Gln395HisfsTer12) c.4393_4394insCC (n.4393_4394insCC) c.923_924insCC (p.Gln308HisfsTer12) c.5-10445_5-10444insCC (n.5-10445_5-10444insCC) c.83_84insCC (p.Gln28HisfsTer12) c.-98-24206_-98-24205insCC (n.-98-24206_-98-24205insCC) n.4746_4747insCC n.4787_4788insCC	ClinVar dbSNP
17	g.43074396T>A	CA10592291	BRCA1	c.4607A>T (p.Gln1536Leu) c.4610A>T (p.Gln1537Leu) c.4484A>T (p.Gln1495Leu) c.4604A>T (p.Gln1535Leu) c.4532A>T (p.Gln1511Leu) c.1298A>T (p.Gln433Leu) c.1160A>T (p.Gln387Leu) c.3722A>T (p.Gln1241Leu) c.4487A>T (p.Gln1496Leu) c.4676A>T (p.Gln1559Leu) c.4469A>T (p.Gln1490Leu) c.1172A>T (p.Gln391Leu) c.1217A>T (p.Gln406Leu) c.4673A>T (p.Gln1558Leu) c.997A>T c.1184A>T (p.Gln395Leu) c.4393A>T (n.4393A>T) c.923A>T (p.Gln308Leu) c.5-10445A>T (n.5-10445A>T) c.83A>T (p.Gln28Leu) c.-98-24206A>T (n.-98-24206A>T) n.4746A>T n.4787A>T
17	g.43074396T>C	CA10592292	BRCA1	c.4607A>G (p.Gln1536Arg) c.4610A>G (p.Gln1537Arg) c.4484A>G (p.Gln1495Arg) c.4604A>G (p.Gln1535Arg) c.4532A>G (p.Gln1511Arg) c.1298A>G (p.Gln433Arg) c.1160A>G (p.Gln387Arg) c.3722A>G (p.Gln1241Arg) c.4487A>G (p.Gln1496Arg) c.4676A>G (p.Gln1559Arg) c.4469A>G (p.Gln1490Arg) c.1172A>G (p.Gln391Arg) c.1217A>G (p.Gln406Arg) c.4673A>G (p.Gln1558Arg) c.997A>G c.1184A>G (p.Gln395Arg) c.4393A>G (n.4393A>G) c.923A>G (p.Gln308Arg) c.5-10445A>G (n.5-10445A>G) c.83A>G (p.Gln28Arg) c.-98-24206A>G (n.-98-24206A>G) n.4746A>G n.4787A>G	ClinVar dbSNP
17	g.43074396T>G	CA10592293	BRCA1	c.4607A>C (p.Gln1536Pro) c.4610A>C (p.Gln1537Pro) c.4484A>C (p.Gln1495Pro) c.4604A>C (p.Gln1535Pro) c.4532A>C (p.Gln1511Pro) c.1298A>C (p.Gln433Pro) c.1160A>C (p.Gln387Pro) c.3722A>C (p.Gln1241Pro) c.4487A>C (p.Gln1496Pro) c.4676A>C (p.Gln1559Pro) c.4469A>C (p.Gln1490Pro) c.1172A>C (p.Gln391Pro) c.1217A>C (p.Gln406Pro) c.4673A>C (p.Gln1558Pro) c.997A>C c.1184A>C (p.Gln395Pro) c.4393A>C (n.4393A>C) c.923A>C (p.Gln308Pro) c.5-10445A>C (n.5-10445A>C) c.83A>C (p.Gln28Pro) c.-98-24206A>C (n.-98-24206A>C) n.4746A>C n.4787A>C
17	g.43074396T=	CA2260774479	BRCA1	c.4607A= (p.Gln1536=) c.4610A= (p.Gln1537=) c.4484A= (p.Gln1495=) c.4604A= (p.Gln1535=) c.4532A= (p.Gln1511=) c.1298A= (p.Gln433=) c.1160A= (p.Gln387=) c.3722A= (p.Gln1241=) c.4487A= (p.Gln1496=) c.4676A= (p.Gln1559=) c.4469A= (p.Gln1490=) c.1172A= (p.Gln391=) c.1217A= (p.Gln406=) c.4673A= (p.Gln1558=) c.997A= c.1184A= (p.Gln395=) c.4393A= (n.4393A=) c.923A= (p.Gln308=) c.5-10445A= (n.5-10445A=) c.83A= (p.Gln28=) c.-98-24206A= (n.-98-24206A=) n.4746A= n.4787A=
17	g.43074397G>A	CA002926	BRCA1	c.4606C>T (p.Gln1536Ter) c.4609C>T (p.Gln1537Ter) c.4483C>T (p.Gln1495Ter) c.4603C>T (p.Gln1535Ter) c.4531C>T (p.Gln1511Ter) c.1297C>T (p.Gln433Ter) c.1159C>T (p.Gln387Ter) c.3721C>T (p.Gln1241Ter) c.4486C>T (p.Gln1496Ter) c.4675C>T (p.Gln1559Ter) c.4468C>T (p.Gln1490Ter) c.1171C>T (p.Gln391Ter) c.1216C>T (p.Gln406Ter) c.4672C>T (p.Gln1558Ter) c.996C>T c.1183C>T (p.Gln395Ter) c.4392C>T (n.4392C>T) c.922C>T (p.Gln308Ter) c.5-10446C>T (n.5-10446C>T) c.82C>T (p.Gln28Ter) c.-98-24207C>T (n.-98-24207C>T) n.4745C>T n.4786C>T	ClinVar dbSNP
17	g.43074397G>C	CA10592294	BRCA1	c.4606C>G (p.Gln1536Glu) c.4609C>G (p.Gln1537Glu) c.4483C>G (p.Gln1495Glu) c.4603C>G (p.Gln1535Glu) c.4531C>G (p.Gln1511Glu) c.1297C>G (p.Gln433Glu) c.1159C>G (p.Gln387Glu) c.3721C>G (p.Gln1241Glu) c.4486C>G (p.Gln1496Glu) c.4675C>G (p.Gln1559Glu) c.4468C>G (p.Gln1490Glu) c.1171C>G (p.Gln391Glu) c.1216C>G (p.Gln406Glu) c.4672C>G (p.Gln1558Glu) c.996C>G c.1183C>G (p.Gln395Glu) c.4392C>G (n.4392C>G) c.922C>G (p.Gln308Glu) c.5-10446C>G (n.5-10446C>G) c.82C>G (p.Gln28Glu) c.-98-24207C>G (n.-98-24207C>G) n.4745C>G n.4786C>G	dbSNP
17	g.43074397G=	CA2260774480	BRCA1	c.4606C= (p.Gln1536=) c.4609C= (p.Gln1537=) c.4483C= (p.Gln1495=) c.4603C= (p.Gln1535=) c.4531C= (p.Gln1511=) c.1297C= (p.Gln433=) c.1159C= (p.Gln387=) c.3721C= (p.Gln1241=) c.4486C= (p.Gln1496=) c.4675C= (p.Gln1559=) c.4468C= (p.Gln1490=) c.1171C= (p.Gln391=) c.1216C= (p.Gln406=) c.4672C= (p.Gln1558=) c.996C= c.1183C= (p.Gln395=) c.4392C= (n.4392C=) c.922C= (p.Gln308=) c.5-10446C= (n.5-10446C=) c.82C= (p.Gln28=) c.-98-24207C= (n.-98-24207C=) n.4745C= n.4786C=
17	g.43074397G>T	CA10592295	BRCA1	c.4606C>A (p.Gln1536Lys) c.4609C>A (p.Gln1537Lys) c.4483C>A (p.Gln1495Lys) c.4603C>A (p.Gln1535Lys) c.4531C>A (p.Gln1511Lys) c.1297C>A (p.Gln433Lys) c.1159C>A (p.Gln387Lys) c.3721C>A (p.Gln1241Lys) c.4486C>A (p.Gln1496Lys) c.4675C>A (p.Gln1559Lys) c.4468C>A (p.Gln1490Lys) c.1171C>A (p.Gln391Lys) c.1216C>A (p.Gln406Lys) c.4672C>A (p.Gln1558Lys) c.996C>A c.1183C>A (p.Gln395Lys) c.4392C>A (n.4392C>A) c.922C>A (p.Gln308Lys) c.5-10446C>A (n.5-10446C>A) c.82C>A (p.Gln28Lys) c.-98-24207C>A (n.-98-24207C>A) n.4745C>A n.4786C>A
17	g.43074397_43074398insGG	CA10586608	BRCA1	c.4606_4607insCC (p.Gln1536ProfsTer12) c.4609_4610insCC (p.Gln1537ProfsTer12) c.4483_4484insCC (p.Gln1495ProfsTer12) c.4603_4604insCC (p.Gln1535ProfsTer12) c.4531_4532insCC (p.Gln1511ProfsTer12) c.1297_1298insCC (p.Gln433ProfsTer12) c.1159_1160insCC (p.Gln387ProfsTer12) c.3721_3722insCC (p.Gln1241ProfsTer12) c.4486_4487insCC (p.Gln1496ProfsTer12) c.4675_4676insCC (p.Gln1559ProfsTer12) c.4468_4469insCC (p.Gln1490ProfsTer12) c.1171_1172insCC (p.Gln391ProfsTer12) c.1216_1217insCC (p.Gln406ProfsTer12) c.4672_4673insCC (p.Gln1558ProfsTer12) c.996_997insCC c.1183_1184insCC (p.Gln395ProfsTer12) c.4392_4393insCC (n.4392_4393insCC) c.922_923insCC (p.Gln308ProfsTer12) c.5-10446_5-10445insCC (n.5-10446_5-10445insCC) c.82_83insCC (p.Gln28ProfsTer12) c.-98-24207_-98-24206insCC (n.-98-24207_-98-24206insCC) n.4745_4746insCC n.4786_4787insCC	ClinVar dbSNP
17	g.43074398del	CA2580094236	BRCA1	c.4605del (p.Glu1535AspfsTer12) c.4608del (p.Glu1536AspfsTer12) c.4482del (p.Glu1494AspfsTer12) c.4602del (p.Glu1534AspfsTer12) c.4530del (p.Glu1510AspfsTer12) c.1296del (p.Glu432AspfsTer12) c.1158del (p.Glu386AspfsTer12) c.3720del (p.Glu1240AspfsTer12) c.4485del (p.Glu1495AspfsTer12) c.4674del (p.Glu1558AspfsTer12) c.4467del (p.Glu1489AspfsTer12) c.1170del (p.Glu390AspfsTer12) c.1215del (p.Glu405AspfsTer12) c.4671del (p.Glu1557AspfsTer12) c.995del c.1182del (p.Glu394AspfsTer12) c.4391del (n.4391del) c.921del (p.Glu307AspfsTer12) c.5-10447del (n.5-10447del) c.81del (p.Glu27AspfsTer12) c.-98-24208del (n.-98-24208del) n.4744del n.4785del	ClinVar
17	g.43074398C>A	CA10592296	BRCA1	c.4605G>T (p.Glu1535Asp) c.4608G>T (p.Glu1536Asp) c.4482G>T (p.Glu1494Asp) c.4602G>T (p.Glu1534Asp) c.4530G>T (p.Glu1510Asp) c.1296G>T (p.Glu432Asp) c.1158G>T (p.Glu386Asp) c.3720G>T (p.Glu1240Asp) c.4485G>T (p.Glu1495Asp) c.4674G>T (p.Glu1558Asp) c.4467G>T (p.Glu1489Asp) c.1170G>T (p.Glu390Asp) c.1215G>T (p.Glu405Asp) c.4671G>T (p.Glu1557Asp) c.995G>T c.1182G>T (p.Glu394Asp) c.4391G>T (n.4391G>T) c.921G>T (p.Glu307Asp) c.5-10447G>T (n.5-10447G>T) c.81G>T (p.Glu27Asp) c.-98-24208G>T (n.-98-24208G>T) n.4744G>T n.4785G>T	ClinVar dbSNP
17	g.43074398C=	CA2260774481	BRCA1	c.4605G= (p.Glu1535=) c.4608G= (p.Glu1536=) c.4482G= (p.Glu1494=) c.4602G= (p.Glu1534=) c.4530G= (p.Glu1510=) c.1296G= (p.Glu432=) c.1158G= (p.Glu386=) c.3720G= (p.Glu1240=) c.4485G= (p.Glu1495=) c.4674G= (p.Glu1558=) c.4467G= (p.Glu1489=) c.1170G= (p.Glu390=) c.1215G= (p.Glu405=) c.4671G= (p.Glu1557=) c.995G= c.1182G= (p.Glu394=) c.4391G= (n.4391G=) c.921G= (p.Glu307=) c.5-10447G= (n.5-10447G=) c.81G= (p.Glu27=) c.-98-24208G= (n.-98-24208G=) n.4744G= n.4785G=
17	g.43074398C>G	CA10592297	BRCA1	c.4605G>C (p.Glu1535Asp) c.4608G>C (p.Glu1536Asp) c.4482G>C (p.Glu1494Asp) c.4602G>C (p.Glu1534Asp) c.4530G>C (p.Glu1510Asp) c.1296G>C (p.Glu432Asp) c.1158G>C (p.Glu386Asp) c.3720G>C (p.Glu1240Asp) c.4485G>C (p.Glu1495Asp) c.4674G>C (p.Glu1558Asp) c.4467G>C (p.Glu1489Asp) c.1170G>C (p.Glu390Asp) c.1215G>C (p.Glu405Asp) c.4671G>C (p.Glu1557Asp) c.995G>C c.1182G>C (p.Glu394Asp) c.4391G>C (n.4391G>C) c.921G>C (p.Glu307Asp) c.5-10447G>C (n.5-10447G>C) c.81G>C (p.Glu27Asp) c.-98-24208G>C (n.-98-24208G>C) n.4744G>C n.4785G>C	dbSNP
17	g.43074398C>T	CA500146596	BRCA1	c.4605G>A (p.Glu1535=) c.4608G>A (p.Glu1536=) c.4482G>A (p.Glu1494=) c.4602G>A (p.Glu1534=) c.4530G>A (p.Glu1510=) c.1296G>A (p.Glu432=) c.1158G>A (p.Glu386=) c.3720G>A (p.Glu1240=) c.4485G>A (p.Glu1495=) c.4674G>A (p.Glu1558=) c.4467G>A (p.Glu1489=) c.1170G>A (p.Glu390=) c.1215G>A (p.Glu405=) c.4671G>A (p.Glu1557=) c.995G>A c.1182G>A (p.Glu394=) c.4391G>A (n.4391G>A) c.921G>A (p.Glu307=) c.5-10447G>A (n.5-10447G>A) c.81G>A (p.Glu27=) c.-98-24208G>A (n.-98-24208G>A) n.4744G>A n.4785G>A	ClinVar dbSNP
17	g.43074402_43074404del	CA2733910130	BRCA1	c.4603_4605del (p.Glu1535del) c.4606_4608del (p.Glu1536del) c.4480_4482del (p.Glu1494del) c.4600_4602del (p.Glu1534del) c.4528_4530del (p.Glu1510del) c.1294_1296del (p.Glu432del) c.1156_1158del (p.Glu386del) c.3718_3720del (p.Glu1240del) c.4483_4485del (p.Glu1495del) c.4672_4674del (p.Glu1558del) c.4465_4467del (p.Glu1489del) c.1168_1170del (p.Glu390del) c.1213_1215del (p.Glu405del) c.4669_4671del (p.Glu1557del) c.993_995del c.1180_1182del (p.Glu394del) c.4389_4391del (n.4389_4391del) c.919_921del (p.Glu307del) c.5-10449_5-10447del (n.5-10449_5-10447del) c.79_81del (p.Glu27del) c.-98-24210_-98-24208del (n.-98-24210_-98-24208del) n.4742_4744del n.4783_4785del	dbSNP
17	g.43074399T>A	CA10592298	BRCA1	c.4604A>T (p.Glu1535Val) c.4607A>T (p.Glu1536Val) c.4481A>T (p.Glu1494Val) c.4601A>T (p.Glu1534Val) c.4529A>T (p.Glu1510Val) c.1295A>T (p.Glu432Val) c.1157A>T (p.Glu386Val) c.3719A>T (p.Glu1240Val) c.4484A>T (p.Glu1495Val) c.4673A>T (p.Glu1558Val) c.4466A>T (p.Glu1489Val) c.1169A>T (p.Glu390Val) c.1214A>T (p.Glu405Val) c.4670A>T (p.Glu1557Val) c.994A>T c.1181A>T (p.Glu394Val) c.4390A>T (n.4390A>T) c.920A>T (p.Glu307Val) c.5-10448A>T (n.5-10448A>T) c.80A>T (p.Glu27Val) c.-98-24209A>T (n.-98-24209A>T) n.4743A>T n.4784A>T	dbSNP
17	g.43074399T>C	CA10592299	BRCA1	c.4604A>G (p.Glu1535Gly) c.4607A>G (p.Glu1536Gly) c.4481A>G (p.Glu1494Gly) c.4601A>G (p.Glu1534Gly) c.4529A>G (p.Glu1510Gly) c.1295A>G (p.Glu432Gly) c.1157A>G (p.Glu386Gly) c.3719A>G (p.Glu1240Gly) c.4484A>G (p.Glu1495Gly) c.4673A>G (p.Glu1558Gly) c.4466A>G (p.Glu1489Gly) c.1169A>G (p.Glu390Gly) c.1214A>G (p.Glu405Gly) c.4670A>G (p.Glu1557Gly) c.994A>G c.1181A>G (p.Glu394Gly) c.4390A>G (n.4390A>G) c.920A>G (p.Glu307Gly) c.5-10448A>G (n.5-10448A>G) c.80A>G (p.Glu27Gly) c.-98-24209A>G (n.-98-24209A>G) n.4743A>G n.4784A>G	dbSNP
17	g.43074399T>G	CA10592300	BRCA1	c.4604A>C (p.Glu1535Ala) c.4607A>C (p.Glu1536Ala) c.4481A>C (p.Glu1494Ala) c.4601A>C (p.Glu1534Ala) c.4529A>C (p.Glu1510Ala) c.1295A>C (p.Glu432Ala) c.1157A>C (p.Glu386Ala) c.3719A>C (p.Glu1240Ala) c.4484A>C (p.Glu1495Ala) c.4673A>C (p.Glu1558Ala) c.4466A>C (p.Glu1489Ala) c.1169A>C (p.Glu390Ala) c.1214A>C (p.Glu405Ala) c.4670A>C (p.Glu1557Ala) c.994A>C c.1181A>C (p.Glu394Ala) c.4390A>C (n.4390A>C) c.920A>C (p.Glu307Ala) c.5-10448A>C (n.5-10448A>C) c.80A>C (p.Glu27Ala) c.-98-24209A>C (n.-98-24209A>C) n.4743A>C n.4784A>C
17	g.43074400C>A	CA10592301	BRCA1	c.4603G>T (p.Glu1535Ter) c.4606G>T (p.Glu1536Ter) c.4480G>T (p.Glu1494Ter) c.4600G>T (p.Glu1534Ter) c.4528G>T (p.Glu1510Ter) c.1294G>T (p.Glu432Ter) c.1156G>T (p.Glu386Ter) c.3718G>T (p.Glu1240Ter) c.4483G>T (p.Glu1495Ter) c.4672G>T (p.Glu1558Ter) c.4465G>T (p.Glu1489Ter) c.1168G>T (p.Glu390Ter) c.1213G>T (p.Glu405Ter) c.4669G>T (p.Glu1557Ter) c.993G>T c.1180G>T (p.Glu394Ter) c.4389G>T (n.4389G>T) c.919G>T (p.Glu307Ter) c.5-10449G>T (n.5-10449G>T) c.79G>T (p.Glu27Ter) c.-98-24210G>T (n.-98-24210G>T) n.4742G>T n.4783G>T	ClinVar dbSNP gnomAD v4
17	g.43074400C=	CA2260774482	BRCA1	c.4603G= (p.Glu1535=) c.4606G= (p.Glu1536=) c.4480G= (p.Glu1494=) c.4600G= (p.Glu1534=) c.4528G= (p.Glu1510=) c.1294G= (p.Glu432=) c.1156G= (p.Glu386=) c.3718G= (p.Glu1240=) c.4483G= (p.Glu1495=) c.4672G= (p.Glu1558=) c.4465G= (p.Glu1489=) c.1168G= (p.Glu390=) c.1213G= (p.Glu405=) c.4669G= (p.Glu1557=) c.993G= c.1180G= (p.Glu394=) c.4389G= (n.4389G=) c.919G= (p.Glu307=) c.5-10449G= (n.5-10449G=) c.79G= (p.Glu27=) c.-98-24210G= (n.-98-24210G=) n.4742G= n.4783G=
17	g.43074400C>G	CA10580515	BRCA1	c.4603G>C (p.Glu1535Gln) c.4606G>C (p.Glu1536Gln) c.4480G>C (p.Glu1494Gln) c.4600G>C (p.Glu1534Gln) c.4528G>C (p.Glu1510Gln) c.1294G>C (p.Glu432Gln) c.1156G>C (p.Glu386Gln) c.3718G>C (p.Glu1240Gln) c.4483G>C (p.Glu1495Gln) c.4672G>C (p.Glu1558Gln) c.4465G>C (p.Glu1489Gln) c.1168G>C (p.Glu390Gln) c.1213G>C (p.Glu405Gln) c.4669G>C (p.Glu1557Gln) c.993G>C c.1180G>C (p.Glu394Gln) c.4389G>C (n.4389G>C) c.919G>C (p.Glu307Gln) c.5-10449G>C (n.5-10449G>C) c.79G>C (p.Glu27Gln) c.-98-24210G>C (n.-98-24210G>C) n.4742G>C n.4783G>C	ClinVar dbSNP
17	g.43074400C>T	CA10592302	BRCA1	c.4603G>A (p.Glu1535Lys) c.4606G>A (p.Glu1536Lys) c.4480G>A (p.Glu1494Lys) c.4600G>A (p.Glu1534Lys) c.4528G>A (p.Glu1510Lys) c.1294G>A (p.Glu432Lys) c.1156G>A (p.Glu386Lys) c.3718G>A (p.Glu1240Lys) c.4483G>A (p.Glu1495Lys) c.4672G>A (p.Glu1558Lys) c.4465G>A (p.Glu1489Lys) c.1168G>A (p.Glu390Lys) c.1213G>A (p.Glu405Lys) c.4669G>A (p.Glu1557Lys) c.993G>A c.1180G>A (p.Glu394Lys) c.4389G>A (n.4389G>A) c.919G>A (p.Glu307Lys) c.5-10449G>A (n.5-10449G>A) c.79G>A (p.Glu27Lys) c.-98-24210G>A (n.-98-24210G>A) n.4742G>A n.4783G>A	ClinVar gnomAD v4 COSMIC COSMIC
17	g.43074400_43074416dup	CA10654942	BRCA1	c.4587_4603dup (p.Glu1535GlyfsTer18) c.4590_4606dup (p.Glu1536GlyfsTer18) c.4464_4480dup (p.Glu1494GlyfsTer18) c.4584_4600dup (p.Glu1534GlyfsTer18) c.4512_4528dup (p.Glu1510GlyfsTer18) c.1278_1294dup (p.Glu432GlyfsTer18) c.1140_1156dup (p.Glu386GlyfsTer18) c.3702_3718dup (p.Glu1240GlyfsTer18) c.4467_4483dup (p.Glu1495GlyfsTer18) c.4656_4672dup (p.Glu1558GlyfsTer18) c.4449_4465dup (p.Glu1489GlyfsTer18) c.1152_1168dup (p.Glu390GlyfsTer18) c.1197_1213dup (p.Glu405GlyfsTer18) c.4653_4669dup (p.Glu1557GlyfsTer18) c.977_993dup c.1164_1180dup (p.Glu394GlyfsTer18) c.4373_4389dup (n.4373_4389dup) c.903_919dup (p.Glu307GlyfsTer18) c.5-10465_5-10449dup (n.5-10465_5-10449dup) c.63_79dup (p.Glu27GlyfsTer18) c.-98-24226_-98-24210dup (n.-98-24226_-98-24210dup) n.4726_4742dup n.4767_4783dup
17	g.43074401C>A	CA10592303	BRCA1	c.4602G>T (p.Glu1534Asp) c.4605G>T (p.Glu1535Asp) c.4479G>T (p.Glu1493Asp) c.4599G>T (p.Glu1533Asp) c.4527G>T (p.Glu1509Asp) c.1293G>T (p.Glu431Asp) c.1155G>T (p.Glu385Asp) c.3717G>T (p.Glu1239Asp) c.4482G>T (p.Glu1494Asp) c.4671G>T (p.Glu1557Asp) c.4464G>T (p.Glu1488Asp) c.1167G>T (p.Glu389Asp) c.1212G>T (p.Glu404Asp) c.4668G>T (p.Glu1556Asp) c.992G>T c.1179G>T (p.Glu393Asp) c.4388G>T (n.4388G>T) c.918G>T (p.Glu306Asp) c.5-10450G>T (n.5-10450G>T) c.78G>T (p.Glu26Asp) c.-98-24211G>T (n.-98-24211G>T) n.4741G>T n.4782G>T	dbSNP
17	g.43074401C>G	CA10592304	BRCA1	c.4602G>C (p.Glu1534Asp) c.4605G>C (p.Glu1535Asp) c.4479G>C (p.Glu1493Asp) c.4599G>C (p.Glu1533Asp) c.4527G>C (p.Glu1509Asp) c.1293G>C (p.Glu431Asp) c.1155G>C (p.Glu385Asp) c.3717G>C (p.Glu1239Asp) c.4482G>C (p.Glu1494Asp) c.4671G>C (p.Glu1557Asp) c.4464G>C (p.Glu1488Asp) c.1167G>C (p.Glu389Asp) c.1212G>C (p.Glu404Asp) c.4668G>C (p.Glu1556Asp) c.992G>C c.1179G>C (p.Glu393Asp) c.4388G>C (n.4388G>C) c.918G>C (p.Glu306Asp) c.5-10450G>C (n.5-10450G>C) c.78G>C (p.Glu26Asp) c.-98-24211G>C (n.-98-24211G>C) n.4741G>C n.4782G>C
17	g.43074401C>T	CA500146597	BRCA1	c.4602G>A (p.Glu1534=) c.4605G>A (p.Glu1535=) c.4479G>A (p.Glu1493=) c.4599G>A (p.Glu1533=) c.4527G>A (p.Glu1509=) c.1293G>A (p.Glu431=) c.1155G>A (p.Glu385=) c.3717G>A (p.Glu1239=) c.4482G>A (p.Glu1494=) c.4671G>A (p.Glu1557=) c.4464G>A (p.Glu1488=) c.1167G>A (p.Glu389=) c.1212G>A (p.Glu404=) c.4668G>A (p.Glu1556=) c.992G>A c.1179G>A (p.Glu393=) c.4388G>A (n.4388G>A) c.918G>A (p.Glu306=) c.5-10450G>A (n.5-10450G>A) c.78G>A (p.Glu26=) c.-98-24211G>A (n.-98-24211G>A) n.4741G>A n.4782G>A	ClinVar dbSNP
17	g.43074402T>A	CA10592305	BRCA1	c.4601A>T (p.Glu1534Val) c.4604A>T (p.Glu1535Val) c.4478A>T (p.Glu1493Val) c.4598A>T (p.Glu1533Val) c.4526A>T (p.Glu1509Val) c.1292A>T (p.Glu431Val) c.1154A>T (p.Glu385Val) c.3716A>T (p.Glu1239Val) c.4481A>T (p.Glu1494Val) c.4670A>T (p.Glu1557Val) c.4463A>T (p.Glu1488Val) c.1166A>T (p.Glu389Val) c.1211A>T (p.Glu404Val) c.4667A>T (p.Glu1556Val) c.991A>T c.1178A>T (p.Glu393Val) c.4387A>T (n.4387A>T) c.917A>T (p.Glu306Val) c.5-10451A>T (n.5-10451A>T) c.77A>T (p.Glu26Val) c.-98-24212A>T (n.-98-24212A>T) n.4740A>T n.4781A>T
17	g.43074402T>C	CA10592306	BRCA1	c.4601A>G (p.Glu1534Gly) c.4604A>G (p.Glu1535Gly) c.4478A>G (p.Glu1493Gly) c.4598A>G (p.Glu1533Gly) c.4526A>G (p.Glu1509Gly) c.1292A>G (p.Glu431Gly) c.1154A>G (p.Glu385Gly) c.3716A>G (p.Glu1239Gly) c.4481A>G (p.Glu1494Gly) c.4670A>G (p.Glu1557Gly) c.4463A>G (p.Glu1488Gly) c.1166A>G (p.Glu389Gly) c.1211A>G (p.Glu404Gly) c.4667A>G (p.Glu1556Gly) c.991A>G c.1178A>G (p.Glu393Gly) c.4387A>G (n.4387A>G) c.917A>G (p.Glu306Gly) c.5-10451A>G (n.5-10451A>G) c.77A>G (p.Glu26Gly) c.-98-24212A>G (n.-98-24212A>G) n.4740A>G n.4781A>G
17	g.43074402T>G	CA10592307	BRCA1	c.4601A>C (p.Glu1534Ala) c.4604A>C (p.Glu1535Ala) c.4478A>C (p.Glu1493Ala) c.4598A>C (p.Glu1533Ala) c.4526A>C (p.Glu1509Ala) c.1292A>C (p.Glu431Ala) c.1154A>C (p.Glu385Ala) c.3716A>C (p.Glu1239Ala) c.4481A>C (p.Glu1494Ala) c.4670A>C (p.Glu1557Ala) c.4463A>C (p.Glu1488Ala) c.1166A>C (p.Glu389Ala) c.1211A>C (p.Glu404Ala) c.4667A>C (p.Glu1556Ala) c.991A>C c.1178A>C (p.Glu393Ala) c.4387A>C (n.4387A>C) c.917A>C (p.Glu306Ala) c.5-10451A>C (n.5-10451A>C) c.77A>C (p.Glu26Ala) c.-98-24212A>C (n.-98-24212A>C) n.4740A>C n.4781A>C
17	g.43074403C>A	CA002924	BRCA1	c.4600G>T (p.Glu1534Ter) c.4603G>T (p.Glu1535Ter) c.4477G>T (p.Glu1493Ter) c.4597G>T (p.Glu1533Ter) c.4525G>T (p.Glu1509Ter) c.1291G>T (p.Glu431Ter) c.1153G>T (p.Glu385Ter) c.3715G>T (p.Glu1239Ter) c.4480G>T (p.Glu1494Ter) c.4669G>T (p.Glu1557Ter) c.4462G>T (p.Glu1488Ter) c.1165G>T (p.Glu389Ter) c.1210G>T (p.Glu404Ter) c.4666G>T (p.Glu1556Ter) c.990G>T c.1177G>T (p.Glu393Ter) c.4386G>T (n.4386G>T) c.916G>T (p.Glu306Ter) c.5-10452G>T (n.5-10452G>T) c.76G>T (p.Glu26Ter) c.-98-24213G>T (n.-98-24213G>T) n.4739G>T n.4780G>T	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.43074403C=	CA2260774483	BRCA1	c.4600G= (p.Glu1534=) c.4603G= (p.Glu1535=) c.4477G= (p.Glu1493=) c.4597G= (p.Glu1533=) c.4525G= (p.Glu1509=) c.1291G= (p.Glu431=) c.1153G= (p.Glu385=) c.3715G= (p.Glu1239=) c.4480G= (p.Glu1494=) c.4669G= (p.Glu1557=) c.4462G= (p.Glu1488=) c.1165G= (p.Glu389=) c.1210G= (p.Glu404=) c.4666G= (p.Glu1556=) c.990G= c.1177G= (p.Glu393=) c.4386G= (n.4386G=) c.916G= (p.Glu306=) c.5-10452G= (n.5-10452G=) c.76G= (p.Glu26=) c.-98-24213G= (n.-98-24213G=) n.4739G= n.4780G=
17	g.43074403C>G	CA10592308	BRCA1	c.4600G>C (p.Glu1534Gln) c.4603G>C (p.Glu1535Gln) c.4477G>C (p.Glu1493Gln) c.4597G>C (p.Glu1533Gln) c.4525G>C (p.Glu1509Gln) c.1291G>C (p.Glu431Gln) c.1153G>C (p.Glu385Gln) c.3715G>C (p.Glu1239Gln) c.4480G>C (p.Glu1494Gln) c.4669G>C (p.Glu1557Gln) c.4462G>C (p.Glu1488Gln) c.1165G>C (p.Glu389Gln) c.1210G>C (p.Glu404Gln) c.4666G>C (p.Glu1556Gln) c.990G>C c.1177G>C (p.Glu393Gln) c.4386G>C (n.4386G>C) c.916G>C (p.Glu306Gln) c.5-10452G>C (n.5-10452G>C) c.76G>C (p.Glu26Gln) c.-98-24213G>C (n.-98-24213G>C) n.4739G>C n.4780G>C	dbSNP
17	g.43074403C>T	CA10580516	BRCA1	c.4600G>A (p.Glu1534Lys) c.4603G>A (p.Glu1535Lys) c.4477G>A (p.Glu1493Lys) c.4597G>A (p.Glu1533Lys) c.4525G>A (p.Glu1509Lys) c.1291G>A (p.Glu431Lys) c.1153G>A (p.Glu385Lys) c.3715G>A (p.Glu1239Lys) c.4480G>A (p.Glu1494Lys) c.4669G>A (p.Glu1557Lys) c.4462G>A (p.Glu1488Lys) c.1165G>A (p.Glu389Lys) c.1210G>A (p.Glu404Lys) c.4666G>A (p.Glu1556Lys) c.990G>A c.1177G>A (p.Glu393Lys) c.4386G>A (n.4386G>A) c.916G>A (p.Glu306Lys) c.5-10452G>A (n.5-10452G>A) c.76G>A (p.Glu26Lys) c.-98-24213G>A (n.-98-24213G>A) n.4739G>A n.4780G>A	ClinVar dbSNP
17	g.43074404C>A	CA500146598	BRCA1	c.4599G>T (p.Val1533=) c.4602G>T (p.Val1534=) c.4476G>T (p.Val1492=) c.4596G>T (p.Val1532=) c.4524G>T (p.Val1508=) c.1290G>T (p.Val430=) c.1152G>T (p.Val384=) c.3714G>T (p.Val1238=) c.4479G>T (p.Val1493=) c.4668G>T (p.Val1556=) c.4461G>T (p.Val1487=) c.1164G>T (p.Val388=) c.1209G>T (p.Val403=) c.4665G>T (p.Val1555=) c.989G>T c.1176G>T (p.Val392=) c.4385G>T (n.4385G>T) c.915G>T (p.Val305=) c.5-10453G>T (n.5-10453G>T) c.75G>T (p.Val25=) c.-98-24214G>T (n.-98-24214G>T) n.4738G>T n.4779G>T	dbSNP
17	g.43074404C=	CA2260774484	BRCA1	c.4599G= (p.Val1533=) c.4602G= (p.Val1534=) c.4476G= (p.Val1492=) c.4596G= (p.Val1532=) c.4524G= (p.Val1508=) c.1290G= (p.Val430=) c.1152G= (p.Val384=) c.3714G= (p.Val1238=) c.4479G= (p.Val1493=) c.4668G= (p.Val1556=) c.4461G= (p.Val1487=) c.1164G= (p.Val388=) c.1209G= (p.Val403=) c.4665G= (p.Val1555=) c.989G= c.1176G= (p.Val392=) c.4385G= (n.4385G=) c.915G= (p.Val305=) c.5-10453G= (n.5-10453G=) c.75G= (p.Val25=) c.-98-24214G= (n.-98-24214G=) n.4738G= n.4779G=
17	g.43074404C>G	CA500146599	BRCA1	c.4599G>C (p.Val1533=) c.4602G>C (p.Val1534=) c.4476G>C (p.Val1492=) c.4596G>C (p.Val1532=) c.4524G>C (p.Val1508=) c.1290G>C (p.Val430=) c.1152G>C (p.Val384=) c.3714G>C (p.Val1238=) c.4479G>C (p.Val1493=) c.4668G>C (p.Val1556=) c.4461G>C (p.Val1487=) c.1164G>C (p.Val388=) c.1209G>C (p.Val403=) c.4665G>C (p.Val1555=) c.989G>C c.1176G>C (p.Val392=) c.4385G>C (n.4385G>C) c.915G>C (p.Val305=) c.5-10453G>C (n.5-10453G>C) c.75G>C (p.Val25=) c.-98-24214G>C (n.-98-24214G>C) n.4738G>C n.4779G>C
17	g.43074404C>T	CA500146600	BRCA1	c.4599G>A (p.Val1533=) c.4602G>A (p.Val1534=) c.4476G>A (p.Val1492=) c.4596G>A (p.Val1532=) c.4524G>A (p.Val1508=) c.1290G>A (p.Val430=) c.1152G>A (p.Val384=) c.3714G>A (p.Val1238=) c.4479G>A (p.Val1493=) c.4668G>A (p.Val1556=) c.4461G>A (p.Val1487=) c.1164G>A (p.Val388=) c.1209G>A (p.Val403=) c.4665G>A (p.Val1555=) c.989G>A c.1176G>A (p.Val392=) c.4385G>A (n.4385G>A) c.915G>A (p.Val305=) c.5-10453G>A (n.5-10453G>A) c.75G>A (p.Val25=) c.-98-24214G>A (n.-98-24214G>A) n.4738G>A n.4779G>A	dbSNP
17	g.43074404_43074405insG	CA2695225912	BRCA1	c.4598_4599insC (p.Glu1534GlyfsTer?) c.4601_4602insC (p.Glu1535GlyfsTer?) c.4475_4476insC (p.Glu1493GlyfsTer?) c.4595_4596insC (p.Glu1533GlyfsTer?) c.4523_4524insC (p.Glu1509GlyfsTer?) c.1289_1290insC (p.Glu431GlyfsTer?) c.1151_1152insC (p.Glu385GlyfsTer?) c.3713_3714insC (p.Glu1239GlyfsTer?) c.4478_4479insC (p.Glu1494GlyfsTer?) c.4667_4668insC (p.Glu1557GlyfsTer?) c.4460_4461insC (p.Glu1488GlyfsTer?) c.1163_1164insC (p.Glu389GlyfsTer?) c.1208_1209insC (p.Glu404GlyfsTer?) c.4664_4665insC (p.Glu1556GlyfsTer?) c.988_989insC c.1175_1176insC (p.Glu393GlyfsTer?) c.4384_4385insC (n.4384_4385insC) c.914_915insC (p.Glu306GlyfsTer?) c.5-10454_5-10453insC (n.5-10454_5-10453insC) c.74_75insC (p.Glu26GlyfsTer?) c.-98-24215_-98-24214insC (n.-98-24215_-98-24214insC) n.4737_4738insC n.4778_4779insC
17	g.43074405A>C	CA10592309	BRCA1	c.4598T>G (p.Val1533Gly) c.4601T>G (p.Val1534Gly) c.4475T>G (p.Val1492Gly) c.4595T>G (p.Val1532Gly) c.4523T>G (p.Val1508Gly) c.1289T>G (p.Val430Gly) c.1151T>G (p.Val384Gly) c.3713T>G (p.Val1238Gly) c.4478T>G (p.Val1493Gly) c.4667T>G (p.Val1556Gly) c.4460T>G (p.Val1487Gly) c.1163T>G (p.Val388Gly) c.1208T>G (p.Val403Gly) c.4664T>G (p.Val1555Gly) c.988T>G c.1175T>G (p.Val392Gly) c.4384T>G (n.4384T>G) c.914T>G (p.Val305Gly) c.5-10454T>G (n.5-10454T>G) c.74T>G (p.Val25Gly) c.-98-24215T>G (n.-98-24215T>G) n.4737T>G n.4778T>G	dbSNP
17	g.43074405A>G	CA10592310	BRCA1	c.4598T>C (p.Val1533Ala) c.4601T>C (p.Val1534Ala) c.4475T>C (p.Val1492Ala) c.4595T>C (p.Val1532Ala) c.4523T>C (p.Val1508Ala) c.1289T>C (p.Val430Ala) c.1151T>C (p.Val384Ala) c.3713T>C (p.Val1238Ala) c.4478T>C (p.Val1493Ala) c.4667T>C (p.Val1556Ala) c.4460T>C (p.Val1487Ala) c.1163T>C (p.Val388Ala) c.1208T>C (p.Val403Ala) c.4664T>C (p.Val1555Ala) c.988T>C c.1175T>C (p.Val392Ala) c.4384T>C (n.4384T>C) c.914T>C (p.Val305Ala) c.5-10454T>C (n.5-10454T>C) c.74T>C (p.Val25Ala) c.-98-24215T>C (n.-98-24215T>C) n.4737T>C n.4778T>C	dbSNP
17	g.43074405A>T	CA10592311	BRCA1	c.4598T>A (p.Val1533Glu) c.4601T>A (p.Val1534Glu) c.4475T>A (p.Val1492Glu) c.4595T>A (p.Val1532Glu) c.4523T>A (p.Val1508Glu) c.1289T>A (p.Val430Glu) c.1151T>A (p.Val384Glu) c.3713T>A (p.Val1238Glu) c.4478T>A (p.Val1493Glu) c.4667T>A (p.Val1556Glu) c.4460T>A (p.Val1487Glu) c.1163T>A (p.Val388Glu) c.1208T>A (p.Val403Glu) c.4664T>A (p.Val1555Glu) c.988T>A c.1175T>A (p.Val392Glu) c.4384T>A (n.4384T>A) c.914T>A (p.Val305Glu) c.5-10454T>A (n.5-10454T>A) c.74T>A (p.Val25Glu) c.-98-24215T>A (n.-98-24215T>A) n.4737T>A n.4778T>A	dbSNP
17	g.43074405dup	CA919844250	BRCA1	c.4598dup (p.Glu1534GlyfsTer?) c.4601dup (p.Glu1535GlyfsTer?) c.4475dup (p.Glu1493GlyfsTer?) c.4595dup (p.Glu1533GlyfsTer?) c.4523dup (p.Glu1509GlyfsTer?) c.1289dup (p.Glu431GlyfsTer?) c.1151dup (p.Glu385GlyfsTer?) c.3713dup (p.Glu1239GlyfsTer?) c.4478dup (p.Glu1494GlyfsTer?) c.4667dup (p.Glu1557GlyfsTer?) c.4460dup (p.Glu1488GlyfsTer?) c.1163dup (p.Glu389GlyfsTer?) c.1208dup (p.Glu404GlyfsTer?) c.4664dup (p.Glu1556GlyfsTer?) c.988dup c.1175dup (p.Glu393GlyfsTer?) c.4384dup (n.4384dup) c.914dup (p.Glu306GlyfsTer?) c.5-10454dup (n.5-10454dup) c.74dup (p.Glu26GlyfsTer?) c.-98-24215dup (n.-98-24215dup) n.4737dup n.4778dup	dbSNP
17	g.43074408_43074413dup	CA2697559972	BRCA1	c.4593_4598dup (p.Val1533_Glu1534insAspVal) c.4596_4601dup (p.Val1534_Glu1535insAspVal) c.4470_4475dup (p.Val1492_Glu1493insAspVal) c.4590_4595dup (p.Val1532_Glu1533insAspVal) c.4518_4523dup (p.Val1508_Glu1509insAspVal) c.1284_1289dup (p.Val430_Glu431insAspVal) c.1146_1151dup (p.Val384_Glu385insAspVal) c.3708_3713dup (p.Val1238_Glu1239insAspVal) c.4473_4478dup (p.Val1493_Glu1494insAspVal) c.4662_4667dup (p.Val1556_Glu1557insAspVal) c.4455_4460dup (p.Val1487_Glu1488insAspVal) c.1158_1163dup (p.Val388_Glu389insAspVal) c.1203_1208dup (p.Val403_Glu404insAspVal) c.4659_4664dup (p.Val1555_Glu1556insAspVal) c.983_988dup c.1170_1175dup (p.Val392_Glu393insAspVal) c.4379_4384dup (n.4379_4384dup) c.909_914dup (p.Val305_Glu306insAspVal) c.5-10459_5-10454dup (n.5-10459_5-10454dup) c.69_74dup (p.Val25_Glu26insAspVal) c.-98-24220_-98-24215dup (n.-98-24220_-98-24215dup) n.4732_4737dup n.4773_4778dup	ClinVar
17	g.43074406C>A	CA10592312	BRCA1	c.4597G>T (p.Val1533Leu) c.4600G>T (p.Val1534Leu) c.4474G>T (p.Val1492Leu) c.4594G>T (p.Val1532Leu) c.4522G>T (p.Val1508Leu) c.1288G>T (p.Val430Leu) c.1150G>T (p.Val384Leu) c.3712G>T (p.Val1238Leu) c.4477G>T (p.Val1493Leu) c.4666G>T (p.Val1556Leu) c.4459G>T (p.Val1487Leu) c.1162G>T (p.Val388Leu) c.1207G>T (p.Val403Leu) c.4663G>T (p.Val1555Leu) c.987G>T c.1174G>T (p.Val392Leu) c.4383G>T (n.4383G>T) c.913G>T (p.Val305Leu) c.5-10455G>T (n.5-10455G>T) c.73G>T (p.Val25Leu) c.-98-24216G>T (n.-98-24216G>T) n.4736G>T n.4777G>T
17	g.43074406C=	CA2260774485	BRCA1	c.4597G= (p.Val1533=) c.4600G= (p.Val1534=) c.4474G= (p.Val1492=) c.4594G= (p.Val1532=) c.4522G= (p.Val1508=) c.1288G= (p.Val430=) c.1150G= (p.Val384=) c.3712G= (p.Val1238=) c.4477G= (p.Val1493=) c.4666G= (p.Val1556=) c.4459G= (p.Val1487=) c.1162G= (p.Val388=) c.1207G= (p.Val403=) c.4663G= (p.Val1555=) c.987G= c.1174G= (p.Val392=) c.4383G= (n.4383G=) c.913G= (p.Val305=) c.5-10455G= (n.5-10455G=) c.73G= (p.Val25=) c.-98-24216G= (n.-98-24216G=) n.4736G= n.4777G=
17	g.43074406C>G	CA10592313	BRCA1	c.4597G>C (p.Val1533Leu) c.4600G>C (p.Val1534Leu) c.4474G>C (p.Val1492Leu) c.4594G>C (p.Val1532Leu) c.4522G>C (p.Val1508Leu) c.1288G>C (p.Val430Leu) c.1150G>C (p.Val384Leu) c.3712G>C (p.Val1238Leu) c.4477G>C (p.Val1493Leu) c.4666G>C (p.Val1556Leu) c.4459G>C (p.Val1487Leu) c.1162G>C (p.Val388Leu) c.1207G>C (p.Val403Leu) c.4663G>C (p.Val1555Leu) c.987G>C c.1174G>C (p.Val392Leu) c.4383G>C (n.4383G>C) c.913G>C (p.Val305Leu) c.5-10455G>C (n.5-10455G>C) c.73G>C (p.Val25Leu) c.-98-24216G>C (n.-98-24216G>C) n.4736G>C n.4777G>C	dbSNP
17	g.43074406C>T	CA002923	BRCA1	c.4597G>A (p.Val1533Met) c.4600G>A (p.Val1534Met) c.4474G>A (p.Val1492Met) c.4594G>A (p.Val1532Met) c.4522G>A (p.Val1508Met) c.1288G>A (p.Val430Met) c.1150G>A (p.Val384Met) c.3712G>A (p.Val1238Met) c.4477G>A (p.Val1493Met) c.4666G>A (p.Val1556Met) c.4459G>A (p.Val1487Met) c.1162G>A (p.Val388Met) c.1207G>A (p.Val403Met) c.4663G>A (p.Val1555Met) c.987G>A c.1174G>A (p.Val392Met) c.4383G>A (n.4383G>A) c.913G>A (p.Val305Met) c.5-10455G>A (n.5-10455G>A) c.73G>A (p.Val25Met) c.-98-24216G>A (n.-98-24216G>A) n.4736G>A n.4777G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43074407del	CA2580094237	BRCA1	c.4596del (p.Asp1532GlufsTer15) c.4599del (p.Asp1533GlufsTer15) c.4473del (p.Asp1491GlufsTer15) c.4593del (p.Asp1531GlufsTer15) c.4521del (p.Asp1507GlufsTer15) c.1287del (p.Asp429GlufsTer15) c.1149del (p.Asp383GlufsTer15) c.3711del (p.Asp1237GlufsTer15) c.4476del (p.Asp1492GlufsTer15) c.4665del (p.Asp1555GlufsTer15) c.4458del (p.Asp1486GlufsTer15) c.1161del (p.Asp387GlufsTer15) c.1206del (p.Asp402GlufsTer15) c.4662del (p.Asp1554GlufsTer15) c.986del c.1173del (p.Asp391GlufsTer15) c.4382del (n.4382del) c.912del (p.Asp304GlufsTer15) c.5-10456del (n.5-10456del) c.72del (p.Asp24GlufsTer15) c.-98-24217del (n.-98-24217del) n.4735del n.4776del	ClinVar
17	g.43074407A=	CA2260774486	BRCA1	c.4596T= (p.Asp1532=) c.4599T= (p.Asp1533=) c.4473T= (p.Asp1491=) c.4593T= (p.Asp1531=) c.4521T= (p.Asp1507=) c.1287T= (p.Asp429=) c.1149T= (p.Asp383=) c.3711T= (p.Asp1237=) c.4476T= (p.Asp1492=) c.4665T= (p.Asp1555=) c.4458T= (p.Asp1486=) c.1161T= (p.Asp387=) c.1206T= (p.Asp402=) c.4662T= (p.Asp1554=) c.986T= c.1173T= (p.Asp391=) c.4382T= (n.4382T=) c.912T= (p.Asp304=) c.5-10456T= (n.5-10456T=) c.72T= (p.Asp24=) c.-98-24217T= (n.-98-24217T=) n.4735T= n.4776T=
17	g.43074407A>C	CA10592314	BRCA1	c.4596T>G (p.Asp1532Glu) c.4599T>G (p.Asp1533Glu) c.4473T>G (p.Asp1491Glu) c.4593T>G (p.Asp1531Glu) c.4521T>G (p.Asp1507Glu) c.1287T>G (p.Asp429Glu) c.1149T>G (p.Asp383Glu) c.3711T>G (p.Asp1237Glu) c.4476T>G (p.Asp1492Glu) c.4665T>G (p.Asp1555Glu) c.4458T>G (p.Asp1486Glu) c.1161T>G (p.Asp387Glu) c.1206T>G (p.Asp402Glu) c.4662T>G (p.Asp1554Glu) c.986T>G c.1173T>G (p.Asp391Glu) c.4382T>G (n.4382T>G) c.912T>G (p.Asp304Glu) c.5-10456T>G (n.5-10456T>G) c.72T>G (p.Asp24Glu) c.-98-24217T>G (n.-98-24217T>G) n.4735T>G n.4776T>G
17	g.43074407A>G	CA500146601	BRCA1	c.4596T>C (p.Asp1532=) c.4599T>C (p.Asp1533=) c.4473T>C (p.Asp1491=) c.4593T>C (p.Asp1531=) c.4521T>C (p.Asp1507=) c.1287T>C (p.Asp429=) c.1149T>C (p.Asp383=) c.3711T>C (p.Asp1237=) c.4476T>C (p.Asp1492=) c.4665T>C (p.Asp1555=) c.4458T>C (p.Asp1486=) c.1161T>C (p.Asp387=) c.1206T>C (p.Asp402=) c.4662T>C (p.Asp1554=) c.986T>C c.1173T>C (p.Asp391=) c.4382T>C (n.4382T>C) c.912T>C (p.Asp304=) c.5-10456T>C (n.5-10456T>C) c.72T>C (p.Asp24=) c.-98-24217T>C (n.-98-24217T>C) n.4735T>C n.4776T>C	ClinVar dbSNP gnomAD v4
17	g.43074407A>T	CA10592315	BRCA1	c.4596T>A (p.Asp1532Glu) c.4599T>A (p.Asp1533Glu) c.4473T>A (p.Asp1491Glu) c.4593T>A (p.Asp1531Glu) c.4521T>A (p.Asp1507Glu) c.1287T>A (p.Asp429Glu) c.1149T>A (p.Asp383Glu) c.3711T>A (p.Asp1237Glu) c.4476T>A (p.Asp1492Glu) c.4665T>A (p.Asp1555Glu) c.4458T>A (p.Asp1486Glu) c.1161T>A (p.Asp387Glu) c.1206T>A (p.Asp402Glu) c.4662T>A (p.Asp1554Glu) c.986T>A c.1173T>A (p.Asp391Glu) c.4382T>A (n.4382T>A) c.912T>A (p.Asp304Glu) c.5-10456T>A (n.5-10456T>A) c.72T>A (p.Asp24Glu) c.-98-24217T>A (n.-98-24217T>A) n.4735T>A n.4776T>A	dbSNP
17	g.43074408T>A	CA10592316	BRCA1	c.4595A>T (p.Asp1532Val) c.4598A>T (p.Asp1533Val) c.4472A>T (p.Asp1491Val) c.4592A>T (p.Asp1531Val) c.4520A>T (p.Asp1507Val) c.1286A>T (p.Asp429Val) c.1148A>T (p.Asp383Val) c.3710A>T (p.Asp1237Val) c.4475A>T (p.Asp1492Val) c.4664A>T (p.Asp1555Val) c.4457A>T (p.Asp1486Val) c.1160A>T (p.Asp387Val) c.1205A>T (p.Asp402Val) c.4661A>T (p.Asp1554Val) c.985A>T c.1172A>T (p.Asp391Val) c.4381A>T (n.4381A>T) c.911A>T (p.Asp304Val) c.5-10457A>T (n.5-10457A>T) c.71A>T (p.Asp24Val) c.-98-24218A>T (n.-98-24218A>T) n.4734A>T n.4775A>T	ClinVar
17	g.43074408T>C	CA10592317	BRCA1	c.4595A>G (p.Asp1532Gly) c.4598A>G (p.Asp1533Gly) c.4472A>G (p.Asp1491Gly) c.4592A>G (p.Asp1531Gly) c.4520A>G (p.Asp1507Gly) c.1286A>G (p.Asp429Gly) c.1148A>G (p.Asp383Gly) c.3710A>G (p.Asp1237Gly) c.4475A>G (p.Asp1492Gly) c.4664A>G (p.Asp1555Gly) c.4457A>G (p.Asp1486Gly) c.1160A>G (p.Asp387Gly) c.1205A>G (p.Asp402Gly) c.4661A>G (p.Asp1554Gly) c.985A>G c.1172A>G (p.Asp391Gly) c.4381A>G (n.4381A>G) c.911A>G (p.Asp304Gly) c.5-10457A>G (n.5-10457A>G) c.71A>G (p.Asp24Gly) c.-98-24218A>G (n.-98-24218A>G) n.4734A>G n.4775A>G	ClinVar
17	g.43074408T>G	CA10592318	BRCA1	c.4595A>C (p.Asp1532Ala) c.4598A>C (p.Asp1533Ala) c.4472A>C (p.Asp1491Ala) c.4592A>C (p.Asp1531Ala) c.4520A>C (p.Asp1507Ala) c.1286A>C (p.Asp429Ala) c.1148A>C (p.Asp383Ala) c.3710A>C (p.Asp1237Ala) c.4475A>C (p.Asp1492Ala) c.4664A>C (p.Asp1555Ala) c.4457A>C (p.Asp1486Ala) c.1160A>C (p.Asp387Ala) c.1205A>C (p.Asp402Ala) c.4661A>C (p.Asp1554Ala) c.985A>C c.1172A>C (p.Asp391Ala) c.4381A>C (n.4381A>C) c.911A>C (p.Asp304Ala) c.5-10457A>C (n.5-10457A>C) c.71A>C (p.Asp24Ala) c.-98-24218A>C (n.-98-24218A>C) n.4734A>C n.4775A>C
17	g.43074408_43074409del	CA658761212	BRCA1	c.4594_4595del (p.Asp1532CysfsTer?) c.4597_4598del (p.Asp1533CysfsTer?) c.4471_4472del (p.Asp1491CysfsTer?) c.4591_4592del (p.Asp1531CysfsTer?) c.4519_4520del (p.Asp1507CysfsTer?) c.1285_1286del (p.Asp429CysfsTer?) c.1147_1148del (p.Asp383CysfsTer?) c.3709_3710del (p.Asp1237CysfsTer?) c.4474_4475del (p.Asp1492CysfsTer?) c.4663_4664del (p.Asp1555CysfsTer?) c.4456_4457del (p.Asp1486CysfsTer?) c.1159_1160del (p.Asp387CysfsTer?) c.1204_1205del (p.Asp402CysfsTer?) c.4660_4661del (p.Asp1554CysfsTer?) c.984_985del c.1171_1172del (p.Asp391CysfsTer?) c.4380_4381del (n.4380_4381del) c.910_911del (p.Asp304CysfsTer?) c.5-10458_5-10457del (n.5-10458_5-10457del) c.70_71del (p.Asp24CysfsTer?) c.-98-24219_-98-24218del (n.-98-24219_-98-24218del) n.4733_4734del n.4774_4775del
17	g.43074409C>A	CA10592319	BRCA1	c.4594G>T (p.Asp1532Tyr) c.4597G>T (p.Asp1533Tyr) c.4471G>T (p.Asp1491Tyr) c.4591G>T (p.Asp1531Tyr) c.4519G>T (p.Asp1507Tyr) c.1285G>T (p.Asp429Tyr) c.1147G>T (p.Asp383Tyr) c.3709G>T (p.Asp1237Tyr) c.4474G>T (p.Asp1492Tyr) c.4663G>T (p.Asp1555Tyr) c.4456G>T (p.Asp1486Tyr) c.1159G>T (p.Asp387Tyr) c.1204G>T (p.Asp402Tyr) c.4660G>T (p.Asp1554Tyr) c.984G>T c.1171G>T (p.Asp391Tyr) c.4380G>T (n.4380G>T) c.910G>T (p.Asp304Tyr) c.5-10458G>T (n.5-10458G>T) c.70G>T (p.Asp24Tyr) c.-98-24219G>T (n.-98-24219G>T) n.4733G>T n.4774G>T	ClinVar dbSNP gnomAD v4
17	g.43074409C=	CA2260774487	BRCA1	c.4594G= (p.Asp1532=) c.4597G= (p.Asp1533=) c.4471G= (p.Asp1491=) c.4591G= (p.Asp1531=) c.4519G= (p.Asp1507=) c.1285G= (p.Asp429=) c.1147G= (p.Asp383=) c.3709G= (p.Asp1237=) c.4474G= (p.Asp1492=) c.4663G= (p.Asp1555=) c.4456G= (p.Asp1486=) c.1159G= (p.Asp387=) c.1204G= (p.Asp402=) c.4660G= (p.Asp1554=) c.984G= c.1171G= (p.Asp391=) c.4380G= (n.4380G=) c.910G= (p.Asp304=) c.5-10458G= (n.5-10458G=) c.70G= (p.Asp24=) c.-98-24219G= (n.-98-24219G=) n.4733G= n.4774G=
17	g.43074409C>G	CA10592320	BRCA1	c.4594G>C (p.Asp1532His) c.4597G>C (p.Asp1533His) c.4471G>C (p.Asp1491His) c.4591G>C (p.Asp1531His) c.4519G>C (p.Asp1507His) c.1285G>C (p.Asp429His) c.1147G>C (p.Asp383His) c.3709G>C (p.Asp1237His) c.4474G>C (p.Asp1492His) c.4663G>C (p.Asp1555His) c.4456G>C (p.Asp1486His) c.1159G>C (p.Asp387His) c.1204G>C (p.Asp402His) c.4660G>C (p.Asp1554His) c.984G>C c.1171G>C (p.Asp391His) c.4380G>C (n.4380G>C) c.910G>C (p.Asp304His) c.5-10458G>C (n.5-10458G>C) c.70G>C (p.Asp24His) c.-98-24219G>C (n.-98-24219G>C) n.4733G>C n.4774G>C	dbSNP
17	g.43074409C>T	CA10592321	BRCA1	c.4594G>A (p.Asp1532Asn) c.4597G>A (p.Asp1533Asn) c.4471G>A (p.Asp1491Asn) c.4591G>A (p.Asp1531Asn) c.4519G>A (p.Asp1507Asn) c.1285G>A (p.Asp429Asn) c.1147G>A (p.Asp383Asn) c.3709G>A (p.Asp1237Asn) c.4474G>A (p.Asp1492Asn) c.4663G>A (p.Asp1555Asn) c.4456G>A (p.Asp1486Asn) c.1159G>A (p.Asp387Asn) c.1204G>A (p.Asp402Asn) c.4660G>A (p.Asp1554Asn) c.984G>A c.1171G>A (p.Asp391Asn) c.4380G>A (n.4380G>A) c.910G>A (p.Asp304Asn) c.5-10458G>A (n.5-10458G>A) c.70G>A (p.Asp24Asn) c.-98-24219G>A (n.-98-24219G>A) n.4733G>A n.4774G>A	ClinVar dbSNP
17	g.43074413_43074415del	CA2580612638	BRCA1	c.4592_4594del (p.Val1531del) c.4595_4597del (p.Val1532del) c.4469_4471del (p.Val1490del) c.4589_4591del (p.Val1530del) c.4517_4519del (p.Val1506del) c.1283_1285del (p.Val428del) c.1145_1147del (p.Val382del) c.3707_3709del (p.Val1236del) c.4472_4474del (p.Val1491del) c.4661_4663del (p.Val1554del) c.4454_4456del (p.Val1485del) c.1157_1159del (p.Val386del) c.1202_1204del (p.Val401del) c.4658_4660del (p.Val1553del) c.982_984del c.1169_1171del (p.Val390del) c.4378_4380del (n.4378_4380del) c.908_910del (p.Val303del) c.5-10460_5-10458del (n.5-10460_5-10458del) c.68_70del (p.Val23del) c.-98-24221_-98-24219del (n.-98-24221_-98-24219del) n.4731_4733del n.4772_4774del	ClinVar dbSNP
17	g.43074410A=	CA2260774488	BRCA1	c.4593T= (p.Val1531=) c.4596T= (p.Val1532=) c.4470T= (p.Val1490=) c.4590T= (p.Val1530=) c.4518T= (p.Val1506=) c.1284T= (p.Val428=) c.1146T= (p.Val382=) c.3708T= (p.Val1236=) c.4473T= (p.Val1491=) c.4662T= (p.Val1554=) c.4455T= (p.Val1485=) c.1158T= (p.Val386=) c.1203T= (p.Val401=) c.4659T= (p.Val1553=) c.983T= c.1170T= (p.Val390=) c.4379T= (n.4379T=) c.909T= (p.Val303=) c.5-10459T= (n.5-10459T=) c.69T= (p.Val23=) c.-98-24220T= (n.-98-24220T=) n.4732T= n.4773T=
17	g.43074410A>C	CA500146602	BRCA1	c.4593T>G (p.Val1531=) c.4596T>G (p.Val1532=) c.4470T>G (p.Val1490=) c.4590T>G (p.Val1530=) c.4518T>G (p.Val1506=) c.1284T>G (p.Val428=) c.1146T>G (p.Val382=) c.3708T>G (p.Val1236=) c.4473T>G (p.Val1491=) c.4662T>G (p.Val1554=) c.4455T>G (p.Val1485=) c.1158T>G (p.Val386=) c.1203T>G (p.Val401=) c.4659T>G (p.Val1553=) c.983T>G c.1170T>G (p.Val390=) c.4379T>G (n.4379T>G) c.909T>G (p.Val303=) c.5-10459T>G (n.5-10459T>G) c.69T>G (p.Val23=) c.-98-24220T>G (n.-98-24220T>G) n.4732T>G n.4773T>G
17	g.43074410A>G	CA500146604	BRCA1	c.4593T>C (p.Val1531=) c.4596T>C (p.Val1532=) c.4470T>C (p.Val1490=) c.4590T>C (p.Val1530=) c.4518T>C (p.Val1506=) c.1284T>C (p.Val428=) c.1146T>C (p.Val382=) c.3708T>C (p.Val1236=) c.4473T>C (p.Val1491=) c.4662T>C (p.Val1554=) c.4455T>C (p.Val1485=) c.1158T>C (p.Val386=) c.1203T>C (p.Val401=) c.4659T>C (p.Val1553=) c.983T>C c.1170T>C (p.Val390=) c.4379T>C (n.4379T>C) c.909T>C (p.Val303=) c.5-10459T>C (n.5-10459T>C) c.69T>C (p.Val23=) c.-98-24220T>C (n.-98-24220T>C) n.4732T>C n.4773T>C	ClinVar dbSNP gnomAD v4
17	g.43074410A>T	CA500146603	BRCA1	c.4593T>A (p.Val1531=) c.4596T>A (p.Val1532=) c.4470T>A (p.Val1490=) c.4590T>A (p.Val1530=) c.4518T>A (p.Val1506=) c.1284T>A (p.Val428=) c.1146T>A (p.Val382=) c.3708T>A (p.Val1236=) c.4473T>A (p.Val1491=) c.4662T>A (p.Val1554=) c.4455T>A (p.Val1485=) c.1158T>A (p.Val386=) c.1203T>A (p.Val401=) c.4659T>A (p.Val1553=) c.983T>A c.1170T>A (p.Val390=) c.4379T>A (n.4379T>A) c.909T>A (p.Val303=) c.5-10459T>A (n.5-10459T>A) c.69T>A (p.Val23=) c.-98-24220T>A (n.-98-24220T>A) n.4732T>A n.4773T>A	dbSNP
17	g.43074410_43074411insGA	CA658825013	BRCA1	c.4593_4594insCT (p.Asp1532LeufsTer16) c.4596_4597insCT (p.Asp1533LeufsTer16) c.4470_4471insCT (p.Asp1491LeufsTer16) c.4590_4591insCT (p.Asp1531LeufsTer16) c.4518_4519insCT (p.Asp1507LeufsTer16) c.1284_1285insCT (p.Asp429LeufsTer16) c.1146_1147insCT (p.Asp383LeufsTer16) c.3708_3709insCT (p.Asp1237LeufsTer16) c.4473_4474insCT (p.Asp1492LeufsTer16) c.4662_4663insCT (p.Asp1555LeufsTer16) c.4455_4456insCT (p.Asp1486LeufsTer16) c.1158_1159insCT (p.Asp387LeufsTer16) c.1203_1204insCT (p.Asp402LeufsTer16) c.4659_4660insCT (p.Asp1554LeufsTer16) c.983_984insCT c.1170_1171insCT (p.Asp391LeufsTer16) c.4379_4380insCT (n.4379_4380insCT) c.909_910insCT (p.Asp304LeufsTer16) c.5-10459_5-10458insCT (n.5-10459_5-10458insCT) c.69_70insCT (p.Asp24LeufsTer16) c.-98-24220_-98-24219insCT (n.-98-24220_-98-24219insCT) n.4732_4733insCT n.4773_4774insCT	ClinVar dbSNP
17	g.43074411del	CA2740097808	BRCA1	c.4593del (p.Asp1532MetfsTer15) c.4596del (p.Asp1533MetfsTer15) c.4470del (p.Asp1491MetfsTer15) c.4590del (p.Asp1531MetfsTer15) c.4518del (p.Asp1507MetfsTer15) c.1284del (p.Asp429MetfsTer15) c.1146del (p.Asp383MetfsTer15) c.3708del (p.Asp1237MetfsTer15) c.4473del (p.Asp1492MetfsTer15) c.4662del (p.Asp1555MetfsTer15) c.4455del (p.Asp1486MetfsTer15) c.1158del (p.Asp387MetfsTer15) c.1203del (p.Asp402MetfsTer15) c.4659del (p.Asp1554MetfsTer15) c.983del c.1170del (p.Asp391MetfsTer15) c.4379del (n.4379del) c.909del (p.Asp304MetfsTer15) c.5-10459del (n.5-10459del) c.69del (p.Asp24MetfsTer15) c.-98-24220del (n.-98-24220del) n.4732del n.4773del	ClinVar
17	g.43074411A=	CA2260774489	BRCA1	c.4592T= (p.Val1531=) c.4595T= (p.Val1532=) c.4469T= (p.Val1490=) c.4589T= (p.Val1530=) c.4517T= (p.Val1506=) c.1283T= (p.Val428=) c.1145T= (p.Val382=) c.3707T= (p.Val1236=) c.4472T= (p.Val1491=) c.4661T= (p.Val1554=) c.4454T= (p.Val1485=) c.1157T= (p.Val386=) c.1202T= (p.Val401=) c.4658T= (p.Val1553=) c.982T= c.1169T= (p.Val390=) c.4378T= (n.4378T=) c.908T= (p.Val303=) c.5-10460T= (n.5-10460T=) c.68T= (p.Val23=) c.-98-24221T= (n.-98-24221T=) n.4731T= n.4772T=
17	g.43074411A>C	CA10592322	BRCA1	c.4592T>G (p.Val1531Gly) c.4595T>G (p.Val1532Gly) c.4469T>G (p.Val1490Gly) c.4589T>G (p.Val1530Gly) c.4517T>G (p.Val1506Gly) c.1283T>G (p.Val428Gly) c.1145T>G (p.Val382Gly) c.3707T>G (p.Val1236Gly) c.4472T>G (p.Val1491Gly) c.4661T>G (p.Val1554Gly) c.4454T>G (p.Val1485Gly) c.1157T>G (p.Val386Gly) c.1202T>G (p.Val401Gly) c.4658T>G (p.Val1553Gly) c.982T>G c.1169T>G (p.Val390Gly) c.4378T>G (n.4378T>G) c.908T>G (p.Val303Gly) c.5-10460T>G (n.5-10460T>G) c.68T>G (p.Val23Gly) c.-98-24221T>G (n.-98-24221T>G) n.4731T>G n.4772T>G
17	g.43074411A>G	CA10592323	BRCA1	c.4592T>C (p.Val1531Ala) c.4595T>C (p.Val1532Ala) c.4469T>C (p.Val1490Ala) c.4589T>C (p.Val1530Ala) c.4517T>C (p.Val1506Ala) c.1283T>C (p.Val428Ala) c.1145T>C (p.Val382Ala) c.3707T>C (p.Val1236Ala) c.4472T>C (p.Val1491Ala) c.4661T>C (p.Val1554Ala) c.4454T>C (p.Val1485Ala) c.1157T>C (p.Val386Ala) c.1202T>C (p.Val401Ala) c.4658T>C (p.Val1553Ala) c.982T>C c.1169T>C (p.Val390Ala) c.4378T>C (n.4378T>C) c.908T>C (p.Val303Ala) c.5-10460T>C (n.5-10460T>C) c.68T>C (p.Val23Ala) c.-98-24221T>C (n.-98-24221T>C) n.4731T>C n.4772T>C	ClinVar dbSNP
17	g.43074411A>T	CA10592324	BRCA1	c.4592T>A (p.Val1531Asp) c.4595T>A (p.Val1532Asp) c.4469T>A (p.Val1490Asp) c.4589T>A (p.Val1530Asp) c.4517T>A (p.Val1506Asp) c.1283T>A (p.Val428Asp) c.1145T>A (p.Val382Asp) c.3707T>A (p.Val1236Asp) c.4472T>A (p.Val1491Asp) c.4661T>A (p.Val1554Asp) c.4454T>A (p.Val1485Asp) c.1157T>A (p.Val386Asp) c.1202T>A (p.Val401Asp) c.4658T>A (p.Val1553Asp) c.982T>A c.1169T>A (p.Val390Asp) c.4378T>A (n.4378T>A) c.908T>A (p.Val303Asp) c.5-10460T>A (n.5-10460T>A) c.68T>A (p.Val23Asp) c.-98-24221T>A (n.-98-24221T>A) n.4731T>A n.4772T>A	dbSNP
17	g.43074411_43074412insGA	CA002919	BRCA1	c.4592_4593insCT (p.Asp1532LeufsTer16) c.4595_4596insCT (p.Asp1533LeufsTer16) c.4469_4470insCT (p.Asp1491LeufsTer16) c.4589_4590insCT (p.Asp1531LeufsTer16) c.4517_4518insCT (p.Asp1507LeufsTer16) c.1283_1284insCT (p.Asp429LeufsTer16) c.1145_1146insCT (p.Asp383LeufsTer16) c.3707_3708insCT (p.Asp1237LeufsTer16) c.4472_4473insCT (p.Asp1492LeufsTer16) c.4661_4662insCT (p.Asp1555LeufsTer16) c.4454_4455insCT (p.Asp1486LeufsTer16) c.1157_1158insCT (p.Asp387LeufsTer16) c.1202_1203insCT (p.Asp402LeufsTer16) c.4658_4659insCT (p.Asp1554LeufsTer16) c.982_983insCT c.1169_1170insCT (p.Asp391LeufsTer16) c.4378_4379insCT (n.4378_4379insCT) c.908_909insCT (p.Asp304LeufsTer16) c.5-10460_5-10459insCT (n.5-10460_5-10459insCT) c.68_69insCT (p.Asp24LeufsTer16) c.-98-24221_-98-24220insCT (n.-98-24221_-98-24220insCT) n.4731_4732insCT n.4772_4773insCT	ClinVar dbSNP
17	g.43074412C>A	CA10592325	BRCA1	c.4591G>T (p.Val1531Phe) c.4594G>T (p.Val1532Phe) c.4468G>T (p.Val1490Phe) c.4588G>T (p.Val1530Phe) c.4516G>T (p.Val1506Phe) c.1282G>T (p.Val428Phe) c.1144G>T (p.Val382Phe) c.3706G>T (p.Val1236Phe) c.4471G>T (p.Val1491Phe) c.4660G>T (p.Val1554Phe) c.4453G>T (p.Val1485Phe) c.1156G>T (p.Val386Phe) c.1201G>T (p.Val401Phe) c.4657G>T (p.Val1553Phe) c.981G>T c.1168G>T (p.Val390Phe) c.4377G>T (n.4377G>T) c.907G>T (p.Val303Phe) c.5-10461G>T (n.5-10461G>T) c.67G>T (p.Val23Phe) c.-98-24222G>T (n.-98-24222G>T) n.4730G>T n.4771G>T	dbSNP
17	g.43074412C=	CA2260774490	BRCA1	c.4591G= (p.Val1531=) c.4594G= (p.Val1532=) c.4468G= (p.Val1490=) c.4588G= (p.Val1530=) c.4516G= (p.Val1506=) c.1282G= (p.Val428=) c.1144G= (p.Val382=) c.3706G= (p.Val1236=) c.4471G= (p.Val1491=) c.4660G= (p.Val1554=) c.4453G= (p.Val1485=) c.1156G= (p.Val386=) c.1201G= (p.Val401=) c.4657G= (p.Val1553=) c.981G= c.1168G= (p.Val390=) c.4377G= (n.4377G=) c.907G= (p.Val303=) c.5-10461G= (n.5-10461G=) c.67G= (p.Val23=) c.-98-24222G= (n.-98-24222G=) n.4730G= n.4771G=
17	g.43074412C>G	CA10592326	BRCA1	c.4591G>C (p.Val1531Leu) c.4594G>C (p.Val1532Leu) c.4468G>C (p.Val1490Leu) c.4588G>C (p.Val1530Leu) c.4516G>C (p.Val1506Leu) c.1282G>C (p.Val428Leu) c.1144G>C (p.Val382Leu) c.3706G>C (p.Val1236Leu) c.4471G>C (p.Val1491Leu) c.4660G>C (p.Val1554Leu) c.4453G>C (p.Val1485Leu) c.1156G>C (p.Val386Leu) c.1201G>C (p.Val401Leu) c.4657G>C (p.Val1553Leu) c.981G>C c.1168G>C (p.Val390Leu) c.4377G>C (n.4377G>C) c.907G>C (p.Val303Leu) c.5-10461G>C (n.5-10461G>C) c.67G>C (p.Val23Leu) c.-98-24222G>C (n.-98-24222G>C) n.4730G>C n.4771G>C	dbSNP
17	g.43074412C>T	CA002920	BRCA1	c.4591G>A (p.Val1531Ile) c.4594G>A (p.Val1532Ile) c.4468G>A (p.Val1490Ile) c.4588G>A (p.Val1530Ile) c.4516G>A (p.Val1506Ile) c.1282G>A (p.Val428Ile) c.1144G>A (p.Val382Ile) c.3706G>A (p.Val1236Ile) c.4471G>A (p.Val1491Ile) c.4660G>A (p.Val1554Ile) c.4453G>A (p.Val1485Ile) c.1156G>A (p.Val386Ile) c.1201G>A (p.Val401Ile) c.4657G>A (p.Val1553Ile) c.981G>A c.1168G>A (p.Val390Ile) c.4377G>A (n.4377G>A) c.907G>A (p.Val303Ile) c.5-10461G>A (n.5-10461G>A) c.67G>A (p.Val23Ile) c.-98-24222G>A (n.-98-24222G>A) n.4730G>A n.4771G>A	ClinVar dbSNP
17	g.43074413A>C	CA500146605	BRCA1	c.4590T>G (p.Val1530=) c.4593T>G (p.Val1531=) c.4467T>G (p.Val1489=) c.4587T>G (p.Val1529=) c.4515T>G (p.Val1505=) c.1281T>G (p.Val427=) c.1143T>G (p.Val381=) c.3705T>G (p.Val1235=) c.4470T>G (p.Val1490=) c.4659T>G (p.Val1553=) c.4452T>G (p.Val1484=) c.1155T>G (p.Val385=) c.1200T>G (p.Val400=) c.4656T>G (p.Val1552=) c.980T>G c.1167T>G (p.Val389=) c.4376T>G (n.4376T>G) c.906T>G (p.Val302=) c.5-10462T>G (n.5-10462T>G) c.66T>G (p.Val22=) c.-98-24223T>G (n.-98-24223T>G) n.4729T>G n.4770T>G
17	g.43074413A>G	CA500146606	BRCA1	c.4590T>C (p.Val1530=) c.4593T>C (p.Val1531=) c.4467T>C (p.Val1489=) c.4587T>C (p.Val1529=) c.4515T>C (p.Val1505=) c.1281T>C (p.Val427=) c.1143T>C (p.Val381=) c.3705T>C (p.Val1235=) c.4470T>C (p.Val1490=) c.4659T>C (p.Val1553=) c.4452T>C (p.Val1484=) c.1155T>C (p.Val385=) c.1200T>C (p.Val400=) c.4656T>C (p.Val1552=) c.980T>C c.1167T>C (p.Val389=) c.4376T>C (n.4376T>C) c.906T>C (p.Val302=) c.5-10462T>C (n.5-10462T>C) c.66T>C (p.Val22=) c.-98-24223T>C (n.-98-24223T>C) n.4729T>C n.4770T>C
17	g.43074413A>T	CA500146607	BRCA1	c.4590T>A (p.Val1530=) c.4593T>A (p.Val1531=) c.4467T>A (p.Val1489=) c.4587T>A (p.Val1529=) c.4515T>A (p.Val1505=) c.1281T>A (p.Val427=) c.1143T>A (p.Val381=) c.3705T>A (p.Val1235=) c.4470T>A (p.Val1490=) c.4659T>A (p.Val1553=) c.4452T>A (p.Val1484=) c.1155T>A (p.Val385=) c.1200T>A (p.Val400=) c.4656T>A (p.Val1552=) c.980T>A c.1167T>A (p.Val389=) c.4376T>A (n.4376T>A) c.906T>A (p.Val302=) c.5-10462T>A (n.5-10462T>A) c.66T>A (p.Val22=) c.-98-24223T>A (n.-98-24223T>A) n.4729T>A n.4770T>A
17	g.43074414dup	CA10589653	BRCA1	c.4590dup (p.Val1531CysfsTer2) c.4593dup (p.Val1532CysfsTer2) c.4467dup (p.Val1490CysfsTer2) c.4587dup (p.Val1530CysfsTer2) c.4515dup (p.Val1506CysfsTer2) c.1281dup (p.Val428CysfsTer2) c.1143dup (p.Val382CysfsTer2) c.3705dup (p.Val1236CysfsTer2) c.4470dup (p.Val1491CysfsTer2) c.4659dup (p.Val1554CysfsTer2) c.4452dup (p.Val1485CysfsTer2) c.1155dup (p.Val386CysfsTer2) c.1200dup (p.Val401CysfsTer2) c.4656dup (p.Val1553CysfsTer2) c.980dup c.1167dup (p.Val390CysfsTer2) c.4376dup (n.4376dup) c.906dup (p.Val303CysfsTer2) c.5-10462dup (n.5-10462dup) c.66dup (p.Val23CysfsTer2) c.-98-24223dup (n.-98-24223dup) n.4729dup n.4770dup	ClinVar dbSNP
17	g.43074414A>C	CA10592327	BRCA1	c.4589T>G (p.Val1530Gly) c.4592T>G (p.Val1531Gly) c.4466T>G (p.Val1489Gly) c.4586T>G (p.Val1529Gly) c.4514T>G (p.Val1505Gly) c.1280T>G (p.Val427Gly) c.1142T>G (p.Val381Gly) c.3704T>G (p.Val1235Gly) c.4469T>G (p.Val1490Gly) c.4658T>G (p.Val1553Gly) c.4451T>G (p.Val1484Gly) c.1154T>G (p.Val385Gly) c.1199T>G (p.Val400Gly) c.4655T>G (p.Val1552Gly) c.979T>G c.1166T>G (p.Val389Gly) c.4375T>G (n.4375T>G) c.905T>G (p.Val302Gly) c.5-10463T>G (n.5-10463T>G) c.65T>G (p.Val22Gly) c.-98-24224T>G (n.-98-24224T>G) n.4728T>G n.4769T>G
17	g.43074414A>G	CA10592328	BRCA1	c.4589T>C (p.Val1530Ala) c.4592T>C (p.Val1531Ala) c.4466T>C (p.Val1489Ala) c.4586T>C (p.Val1529Ala) c.4514T>C (p.Val1505Ala) c.1280T>C (p.Val427Ala) c.1142T>C (p.Val381Ala) c.3704T>C (p.Val1235Ala) c.4469T>C (p.Val1490Ala) c.4658T>C (p.Val1553Ala) c.4451T>C (p.Val1484Ala) c.1154T>C (p.Val385Ala) c.1199T>C (p.Val400Ala) c.4655T>C (p.Val1552Ala) c.979T>C c.1166T>C (p.Val389Ala) c.4375T>C (n.4375T>C) c.905T>C (p.Val302Ala) c.5-10463T>C (n.5-10463T>C) c.65T>C (p.Val22Ala) c.-98-24224T>C (n.-98-24224T>C) n.4728T>C n.4769T>C	ClinVar dbSNP
17	g.43074414A>T	CA10592329	BRCA1	c.4589T>A (p.Val1530Asp) c.4592T>A (p.Val1531Asp) c.4466T>A (p.Val1489Asp) c.4586T>A (p.Val1529Asp) c.4514T>A (p.Val1505Asp) c.1280T>A (p.Val427Asp) c.1142T>A (p.Val381Asp) c.3704T>A (p.Val1235Asp) c.4469T>A (p.Val1490Asp) c.4658T>A (p.Val1553Asp) c.4451T>A (p.Val1484Asp) c.1154T>A (p.Val385Asp) c.1199T>A (p.Val400Asp) c.4655T>A (p.Val1552Asp) c.979T>A c.1166T>A (p.Val389Asp) c.4375T>A (n.4375T>A) c.905T>A (p.Val302Asp) c.5-10463T>A (n.5-10463T>A) c.65T>A (p.Val22Asp) c.-98-24224T>A (n.-98-24224T>A) n.4728T>A n.4769T>A	dbSNP
17	g.43074414_43074415delinsAC	CA2260774491	BRCA1	c.4588_4589delinsGT (p.Val1530=) c.4591_4592delinsGT (p.Val1531=) c.4465_4466delinsGT (p.Val1489=) c.4585_4586delinsGT (p.Val1529=) c.4513_4514delinsGT (p.Val1505=) c.1279_1280delinsGT (p.Val427=) c.1141_1142delinsGT (p.Val381=) c.3703_3704delinsGT (p.Val1235=) c.4468_4469delinsGT (p.Val1490=) c.4657_4658delinsGT (p.Val1553=) c.4450_4451delinsGT (p.Val1484=) c.1153_1154delinsGT (p.Val385=) c.1198_1199delinsGT (p.Val400=) c.4654_4655delinsGT (p.Val1552=) c.978_979delinsGT c.1165_1166delinsGT (p.Val389=) c.4374_4375delinsGT (n.4374_4375delinsGT) c.904_905delinsGT (p.Val302=) c.5-10464_5-10463delinsGT (n.5-10464_5-10463delinsGT) c.64_65delinsGT (p.Val22=) c.-98-24225_-98-24224delinsGT (n.-98-24225_-98-24224delinsGT) n.4727_4728delinsGT n.4768_4769delinsGT
17	g.43074415C>A	CA10592330	BRCA1	c.4588G>T (p.Val1530Phe) c.4591G>T (p.Val1531Phe) c.4465G>T (p.Val1489Phe) c.4585G>T (p.Val1529Phe) c.4513G>T (p.Val1505Phe) c.1279G>T (p.Val427Phe) c.1141G>T (p.Val381Phe) c.3703G>T (p.Val1235Phe) c.4468G>T (p.Val1490Phe) c.4657G>T (p.Val1553Phe) c.4450G>T (p.Val1484Phe) c.1153G>T (p.Val385Phe) c.1198G>T (p.Val400Phe) c.4654G>T (p.Val1552Phe) c.978G>T c.1165G>T (p.Val389Phe) c.4374G>T (n.4374G>T) c.904G>T (p.Val302Phe) c.5-10464G>T (n.5-10464G>T) c.64G>T (p.Val22Phe) c.-98-24225G>T (n.-98-24225G>T) n.4727G>T n.4768G>T	ClinVar dbSNP gnomAD v4
17	g.43074415C=	CA2260774493	BRCA1	c.4588G= (p.Val1530=) c.4591G= (p.Val1531=) c.4465G= (p.Val1489=) c.4585G= (p.Val1529=) c.4513G= (p.Val1505=) c.1279G= (p.Val427=) c.1141G= (p.Val381=) c.3703G= (p.Val1235=) c.4468G= (p.Val1490=) c.4657G= (p.Val1553=) c.4450G= (p.Val1484=) c.1153G= (p.Val385=) c.1198G= (p.Val400=) c.4654G= (p.Val1552=) c.978G= c.1165G= (p.Val389=) c.4374G= (n.4374G=) c.904G= (p.Val302=) c.5-10464G= (n.5-10464G=) c.64G= (p.Val22=) c.-98-24225G= (n.-98-24225G=) n.4727G= n.4768G=
17	g.43074415C>G	CA10592331	BRCA1	c.4588G>C (p.Val1530Leu) c.4591G>C (p.Val1531Leu) c.4465G>C (p.Val1489Leu) c.4585G>C (p.Val1529Leu) c.4513G>C (p.Val1505Leu) c.1279G>C (p.Val427Leu) c.1141G>C (p.Val381Leu) c.3703G>C (p.Val1235Leu) c.4468G>C (p.Val1490Leu) c.4657G>C (p.Val1553Leu) c.4450G>C (p.Val1484Leu) c.1153G>C (p.Val385Leu) c.1198G>C (p.Val400Leu) c.4654G>C (p.Val1552Leu) c.978G>C c.1165G>C (p.Val389Leu) c.4374G>C (n.4374G>C) c.904G>C (p.Val302Leu) c.5-10464G>C (n.5-10464G>C) c.64G>C (p.Val22Leu) c.-98-24225G>C (n.-98-24225G>C) n.4727G>C n.4768G>C	dbSNP
17	g.43074415C>T	CA10592332	BRCA1	c.4588G>A (p.Val1530Ile) c.4591G>A (p.Val1531Ile) c.4465G>A (p.Val1489Ile) c.4585G>A (p.Val1529Ile) c.4513G>A (p.Val1505Ile) c.1279G>A (p.Val427Ile) c.1141G>A (p.Val381Ile) c.3703G>A (p.Val1235Ile) c.4468G>A (p.Val1490Ile) c.4657G>A (p.Val1553Ile) c.4450G>A (p.Val1484Ile) c.1153G>A (p.Val385Ile) c.1198G>A (p.Val400Ile) c.4654G>A (p.Val1552Ile) c.978G>A c.1165G>A (p.Val389Ile) c.4374G>A (n.4374G>A) c.904G>A (p.Val302Ile) c.5-10464G>A (n.5-10464G>A) c.64G>A (p.Val22Ile) c.-98-24225G>A (n.-98-24225G>A) n.4727G>A n.4768G>A	ClinVar dbSNP gnomAD v4
17	g.43074416del	CA10589654	BRCA1	c.4588del (p.Val1530LeufsTer17) c.4591del (p.Val1531LeufsTer17) c.4465del (p.Val1489LeufsTer17) c.4585del (p.Val1529LeufsTer17) c.4513del (p.Val1505LeufsTer17) c.1279del (p.Val427LeufsTer17) c.1141del (p.Val381LeufsTer17) c.3703del (p.Val1235LeufsTer17) c.4468del (p.Val1490LeufsTer17) c.4657del (p.Val1553LeufsTer17) c.4450del (p.Val1484LeufsTer17) c.1153del (p.Val385LeufsTer17) c.1198del (p.Val400LeufsTer17) c.4654del (p.Val1552LeufsTer17) c.978del c.1165del (p.Val389LeufsTer17) c.4374del (n.4374del) c.904del (p.Val302LeufsTer17) c.5-10464del (n.5-10464del) c.64del (p.Val22LeufsTer17) c.-98-24225del (n.-98-24225del) n.4727del n.4768del	ClinVar dbSNP
17	g.43074415_43074419delinsCCTTA	CA2260774492	BRCA1	c.4584_4588delinsTAAGG (p.Ile1528=) c.4587_4591delinsTAAGG (p.Ile1529=) c.4461_4465delinsTAAGG (p.Ile1487=) c.4581_4585delinsTAAGG (p.Ile1527=) c.4509_4513delinsTAAGG (p.Ile1503=) c.1275_1279delinsTAAGG (p.Ile425=) c.1137_1141delinsTAAGG (p.Ile379=) c.3699_3703delinsTAAGG (p.Ile1233=) c.4464_4468delinsTAAGG (p.Ile1488=) c.4653_4657delinsTAAGG (p.Ile1551=) c.4446_4450delinsTAAGG (p.Ile1482=) c.1149_1153delinsTAAGG (p.Ile383=) c.1194_1198delinsTAAGG (p.Ile398=) c.4650_4654delinsTAAGG (p.Ile1550=) c.974_978delinsTAAGG c.1161_1165delinsTAAGG (p.Ile387=) c.4370_4374delinsTAAGG (n.4370_4374delinsTAAGG) c.900_904delinsTAAGG (p.Ile300=) c.5-10468_5-10464delinsTAAGG (n.5-10468_5-10464delinsTAAGG) c.60_64delinsTAAGG (p.Ile20=) c.-98-24229_-98-24225delinsTAAGG (n.-98-24229_-98-24225delinsTAAGG) n.4723_4727delinsTAAGG n.4764_4768delinsTAAGG
17	g.43074416C>A	CA10592333	BRCA1	c.4587G>T (p.Lys1529Asn) c.4590G>T (p.Lys1530Asn) c.4464G>T (p.Lys1488Asn) c.4584G>T (p.Lys1528Asn) c.4512G>T (p.Lys1504Asn) c.1278G>T (p.Lys426Asn) c.1140G>T (p.Lys380Asn) c.3702G>T (p.Lys1234Asn) c.4467G>T (p.Lys1489Asn) c.4656G>T (p.Lys1552Asn) c.4449G>T (p.Lys1483Asn) c.1152G>T (p.Lys384Asn) c.1197G>T (p.Lys399Asn) c.4653G>T (p.Lys1551Asn) c.977G>T c.1164G>T (p.Lys388Asn) c.4373G>T (n.4373G>T) c.903G>T (p.Lys301Asn) c.5-10465G>T (n.5-10465G>T) c.63G>T (p.Lys21Asn) c.-98-24226G>T (n.-98-24226G>T) n.4726G>T n.4767G>T	ClinVar dbSNP
17	g.43074416C>G	CA10592334	BRCA1	c.4587G>C (p.Lys1529Asn) c.4590G>C (p.Lys1530Asn) c.4464G>C (p.Lys1488Asn) c.4584G>C (p.Lys1528Asn) c.4512G>C (p.Lys1504Asn) c.1278G>C (p.Lys426Asn) c.1140G>C (p.Lys380Asn) c.3702G>C (p.Lys1234Asn) c.4467G>C (p.Lys1489Asn) c.4656G>C (p.Lys1552Asn) c.4449G>C (p.Lys1483Asn) c.1152G>C (p.Lys384Asn) c.1197G>C (p.Lys399Asn) c.4653G>C (p.Lys1551Asn) c.977G>C c.1164G>C (p.Lys388Asn) c.4373G>C (n.4373G>C) c.903G>C (p.Lys301Asn) c.5-10465G>C (n.5-10465G>C) c.63G>C (p.Lys21Asn) c.-98-24226G>C (n.-98-24226G>C) n.4726G>C n.4767G>C	dbSNP
17	g.43074416C>T	CA500146608	BRCA1	c.4587G>A (p.Lys1529=) c.4590G>A (p.Lys1530=) c.4464G>A (p.Lys1488=) c.4584G>A (p.Lys1528=) c.4512G>A (p.Lys1504=) c.1278G>A (p.Lys426=) c.1140G>A (p.Lys380=) c.3702G>A (p.Lys1234=) c.4467G>A (p.Lys1489=) c.4656G>A (p.Lys1552=) c.4449G>A (p.Lys1483=) c.1152G>A (p.Lys384=) c.1197G>A (p.Lys399=) c.4653G>A (p.Lys1551=) c.977G>A c.1164G>A (p.Lys388=) c.4373G>A (n.4373G>A) c.903G>A (p.Lys301=) c.5-10465G>A (n.5-10465G>A) c.63G>A (p.Lys21=) c.-98-24226G>A (n.-98-24226G>A) n.4726G>A n.4767G>A	ClinVar dbSNP
17	g.43074416_43074419del	CA002917	BRCA1	c.4584_4587del (p.Ile1528MetfsTer18) c.4587_4590del (p.Ile1529MetfsTer18) c.4461_4464del (p.Ile1487MetfsTer18) c.4581_4584del (p.Ile1527MetfsTer18) c.4509_4512del (p.Ile1503MetfsTer18) c.1275_1278del (p.Ile425MetfsTer18) c.1137_1140del (p.Ile379MetfsTer18) c.3699_3702del (p.Ile1233MetfsTer18) c.4464_4467del (p.Ile1488MetfsTer18) c.4653_4656del (p.Ile1551MetfsTer18) c.4446_4449del (p.Ile1482MetfsTer18) c.1149_1152del (p.Ile383MetfsTer18) c.1194_1197del (p.Ile398MetfsTer18) c.4650_4653del (p.Ile1550MetfsTer18) c.974_977del c.1161_1164del (p.Ile387MetfsTer18) c.4370_4373del (n.4370_4373del) c.900_903del (p.Ile300MetfsTer18) c.5-10468_5-10465del (n.5-10468_5-10465del) c.60_63del (p.Ile20MetfsTer18) c.-98-24229_-98-24226del (n.-98-24229_-98-24226del) n.4723_4726del n.4764_4767del	ClinVar dbSNP
17	g.43074417T>A	CA052553	BRCA1	c.4586A>T (p.Lys1529Met) c.4589A>T (p.Lys1530Met) c.4463A>T (p.Lys1488Met) c.4583A>T (p.Lys1528Met) c.4511A>T (p.Lys1504Met) c.1277A>T (p.Lys426Met) c.1139A>T (p.Lys380Met) c.3701A>T (p.Lys1234Met) c.4466A>T (p.Lys1489Met) c.4655A>T (p.Lys1552Met) c.4448A>T (p.Lys1483Met) c.1151A>T (p.Lys384Met) c.1196A>T (p.Lys399Met) c.4652A>T (p.Lys1551Met) c.976A>T c.1163A>T (p.Lys388Met) c.4372A>T (n.4372A>T) c.902A>T (p.Lys301Met) c.5-10466A>T (n.5-10466A>T) c.62A>T (p.Lys21Met) c.-98-24227A>T (n.-98-24227A>T) n.4725A>T n.4766A>T	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43074417T>C	CA10592335	BRCA1	c.4586A>G (p.Lys1529Arg) c.4589A>G (p.Lys1530Arg) c.4463A>G (p.Lys1488Arg) c.4583A>G (p.Lys1528Arg) c.4511A>G (p.Lys1504Arg) c.1277A>G (p.Lys426Arg) c.1139A>G (p.Lys380Arg) c.3701A>G (p.Lys1234Arg) c.4466A>G (p.Lys1489Arg) c.4655A>G (p.Lys1552Arg) c.4448A>G (p.Lys1483Arg) c.1151A>G (p.Lys384Arg) c.1196A>G (p.Lys399Arg) c.4652A>G (p.Lys1551Arg) c.976A>G c.1163A>G (p.Lys388Arg) c.4372A>G (n.4372A>G) c.902A>G (p.Lys301Arg) c.5-10466A>G (n.5-10466A>G) c.62A>G (p.Lys21Arg) c.-98-24227A>G (n.-98-24227A>G) n.4725A>G n.4766A>G	dbSNP
17	g.43074417T>G	CA002918	BRCA1	c.4586A>C (p.Lys1529Thr) c.4589A>C (p.Lys1530Thr) c.4463A>C (p.Lys1488Thr) c.4583A>C (p.Lys1528Thr) c.4511A>C (p.Lys1504Thr) c.1277A>C (p.Lys426Thr) c.1139A>C (p.Lys380Thr) c.3701A>C (p.Lys1234Thr) c.4466A>C (p.Lys1489Thr) c.4655A>C (p.Lys1552Thr) c.4448A>C (p.Lys1483Thr) c.1151A>C (p.Lys384Thr) c.1196A>C (p.Lys399Thr) c.4652A>C (p.Lys1551Thr) c.976A>C c.1163A>C (p.Lys388Thr) c.4372A>C (n.4372A>C) c.902A>C (p.Lys301Thr) c.5-10466A>C (n.5-10466A>C) c.62A>C (p.Lys21Thr) c.-98-24227A>C (n.-98-24227A>C) n.4725A>C n.4766A>C	ClinVar dbSNP
17	g.43074417T=	CA2260774494	BRCA1	c.4586A= (p.Lys1529=) c.4589A= (p.Lys1530=) c.4463A= (p.Lys1488=) c.4583A= (p.Lys1528=) c.4511A= (p.Lys1504=) c.1277A= (p.Lys426=) c.1139A= (p.Lys380=) c.3701A= (p.Lys1234=) c.4466A= (p.Lys1489=) c.4655A= (p.Lys1552=) c.4448A= (p.Lys1483=) c.1151A= (p.Lys384=) c.1196A= (p.Lys399=) c.4652A= (p.Lys1551=) c.976A= c.1163A= (p.Lys388=) c.4372A= (n.4372A=) c.902A= (p.Lys301=) c.5-10466A= (n.5-10466A=) c.62A= (p.Lys21=) c.-98-24227A= (n.-98-24227A=) n.4725A= n.4766A=
17	g.43074417_43074423dup	CA2499224404	BRCA1	c.4580_4586dup (p.Lys1529AsnfsTer3) c.4583_4589dup (p.Lys1530AsnfsTer3) c.4457_4463dup (p.Lys1488AsnfsTer3) c.4577_4583dup (p.Lys1528AsnfsTer3) c.4505_4511dup (p.Lys1504AsnfsTer3) c.1271_1277dup (p.Lys426AsnfsTer3) c.1133_1139dup (p.Lys380AsnfsTer3) c.3695_3701dup (p.Lys1234AsnfsTer3) c.4460_4466dup (p.Lys1489AsnfsTer3) c.4649_4655dup (p.Lys1552AsnfsTer3) c.4442_4448dup (p.Lys1483AsnfsTer3) c.1145_1151dup (p.Lys384AsnfsTer3) c.1190_1196dup (p.Lys399AsnfsTer3) c.4646_4652dup (p.Lys1551AsnfsTer3) c.970_976dup c.1157_1163dup (p.Lys388AsnfsTer3) c.4366_4372dup (n.4366_4372dup) c.896_902dup (p.Lys301AsnfsTer3) c.5-10472_5-10466dup (n.5-10472_5-10466dup) c.56_62dup (p.Lys21AsnfsTer3) c.-98-24233_-98-24227dup (n.-98-24233_-98-24227dup) n.4719_4725dup n.4760_4766dup	ClinVar dbSNP
17	g.43074418T>A	CA10592336	BRCA1	c.4585A>T (p.Lys1529Ter) c.4588A>T (p.Lys1530Ter) c.4462A>T (p.Lys1488Ter) c.4582A>T (p.Lys1528Ter) c.4510A>T (p.Lys1504Ter) c.1276A>T (p.Lys426Ter) c.1138A>T (p.Lys380Ter) c.3700A>T (p.Lys1234Ter) c.4465A>T (p.Lys1489Ter) c.4654A>T (p.Lys1552Ter) c.4447A>T (p.Lys1483Ter) c.1150A>T (p.Lys384Ter) c.1195A>T (p.Lys399Ter) c.4651A>T (p.Lys1551Ter) c.975A>T c.1162A>T (p.Lys388Ter) c.4371A>T (n.4371A>T) c.901A>T (p.Lys301Ter) c.5-10467A>T (n.5-10467A>T) c.61A>T (p.Lys21Ter) c.-98-24228A>T (n.-98-24228A>T) n.4724A>T n.4765A>T	ClinVar dbSNP
17	g.43074418T>C	CA052546	BRCA1	c.4585A>G (p.Lys1529Glu) c.4588A>G (p.Lys1530Glu) c.4462A>G (p.Lys1488Glu) c.4582A>G (p.Lys1528Glu) c.4510A>G (p.Lys1504Glu) c.1276A>G (p.Lys426Glu) c.1138A>G (p.Lys380Glu) c.3700A>G (p.Lys1234Glu) c.4465A>G (p.Lys1489Glu) c.4654A>G (p.Lys1552Glu) c.4447A>G (p.Lys1483Glu) c.1150A>G (p.Lys384Glu) c.1195A>G (p.Lys399Glu) c.4651A>G (p.Lys1551Glu) c.975A>G c.1162A>G (p.Lys388Glu) c.4371A>G (n.4371A>G) c.901A>G (p.Lys301Glu) c.5-10467A>G (n.5-10467A>G) c.61A>G (p.Lys21Glu) c.-98-24228A>G (n.-98-24228A>G) n.4724A>G n.4765A>G	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43074418T>G	CA10592337	BRCA1	c.4585A>C (p.Lys1529Gln) c.4588A>C (p.Lys1530Gln) c.4462A>C (p.Lys1488Gln) c.4582A>C (p.Lys1528Gln) c.4510A>C (p.Lys1504Gln) c.1276A>C (p.Lys426Gln) c.1138A>C (p.Lys380Gln) c.3700A>C (p.Lys1234Gln) c.4465A>C (p.Lys1489Gln) c.4654A>C (p.Lys1552Gln) c.4447A>C (p.Lys1483Gln) c.1150A>C (p.Lys384Gln) c.1195A>C (p.Lys399Gln) c.4651A>C (p.Lys1551Gln) c.975A>C c.1162A>C (p.Lys388Gln) c.4371A>C (n.4371A>C) c.901A>C (p.Lys301Gln) c.5-10467A>C (n.5-10467A>C) c.61A>C (p.Lys21Gln) c.-98-24228A>C (n.-98-24228A>C) n.4724A>C n.4765A>C	ClinVar dbSNP
17	g.43074418T=	CA2260774495	BRCA1	c.4585A= (p.Lys1529=) c.4588A= (p.Lys1530=) c.4462A= (p.Lys1488=) c.4582A= (p.Lys1528=) c.4510A= (p.Lys1504=) c.1276A= (p.Lys426=) c.1138A= (p.Lys380=) c.3700A= (p.Lys1234=) c.4465A= (p.Lys1489=) c.4654A= (p.Lys1552=) c.4447A= (p.Lys1483=) c.1150A= (p.Lys384=) c.1195A= (p.Lys399=) c.4651A= (p.Lys1551=) c.975A= c.1162A= (p.Lys388=) c.4371A= (n.4371A=) c.901A= (p.Lys301=) c.5-10467A= (n.5-10467A=) c.61A= (p.Lys21=) c.-98-24228A= (n.-98-24228A=) n.4724A= n.4765A=
17	g.43074419A>C	CA10592338	BRCA1	c.4584T>G (p.Ile1528Met) c.4587T>G (p.Ile1529Met) c.4461T>G (p.Ile1487Met) c.4581T>G (p.Ile1527Met) c.4509T>G (p.Ile1503Met) c.1275T>G (p.Ile425Met) c.1137T>G (p.Ile379Met) c.3699T>G (p.Ile1233Met) c.4464T>G (p.Ile1488Met) c.4653T>G (p.Ile1551Met) c.4446T>G (p.Ile1482Met) c.1149T>G (p.Ile383Met) c.1194T>G (p.Ile398Met) c.4650T>G (p.Ile1550Met) c.974T>G c.1161T>G (p.Ile387Met) c.4370T>G (n.4370T>G) c.900T>G (p.Ile300Met) c.5-10468T>G (n.5-10468T>G) c.60T>G (p.Ile20Met) c.-98-24229T>G (n.-98-24229T>G) n.4723T>G n.4764T>G
17	g.43074419A>G	CA500146609	BRCA1	c.4584T>C (p.Ile1528=) c.4587T>C (p.Ile1529=) c.4461T>C (p.Ile1487=) c.4581T>C (p.Ile1527=) c.4509T>C (p.Ile1503=) c.1275T>C (p.Ile425=) c.1137T>C (p.Ile379=) c.3699T>C (p.Ile1233=) c.4464T>C (p.Ile1488=) c.4653T>C (p.Ile1551=) c.4446T>C (p.Ile1482=) c.1149T>C (p.Ile383=) c.1194T>C (p.Ile398=) c.4650T>C (p.Ile1550=) c.974T>C c.1161T>C (p.Ile387=) c.4370T>C (n.4370T>C) c.900T>C (p.Ile300=) c.5-10468T>C (n.5-10468T>C) c.60T>C (p.Ile20=) c.-98-24229T>C (n.-98-24229T>C) n.4723T>C n.4764T>C
17	g.43074419A>T	CA500146610	BRCA1	c.4584T>A (p.Ile1528=) c.4587T>A (p.Ile1529=) c.4461T>A (p.Ile1487=) c.4581T>A (p.Ile1527=) c.4509T>A (p.Ile1503=) c.1275T>A (p.Ile425=) c.1137T>A (p.Ile379=) c.3699T>A (p.Ile1233=) c.4464T>A (p.Ile1488=) c.4653T>A (p.Ile1551=) c.4446T>A (p.Ile1482=) c.1149T>A (p.Ile383=) c.1194T>A (p.Ile398=) c.4650T>A (p.Ile1550=) c.974T>A c.1161T>A (p.Ile387=) c.4370T>A (n.4370T>A) c.900T>A (p.Ile300=) c.5-10468T>A (n.5-10468T>A) c.60T>A (p.Ile20=) c.-98-24229T>A (n.-98-24229T>A) n.4723T>A n.4764T>A	dbSNP
17	g.43074420del	CA2573154050	BRCA1	c.4584del (p.Lys1529ArgfsTer18) c.4587del (p.Lys1530ArgfsTer18) c.4461del (p.Lys1488ArgfsTer18) c.4581del (p.Lys1528ArgfsTer18) c.4509del (p.Lys1504ArgfsTer18) c.1275del (p.Lys426ArgfsTer18) c.1137del (p.Lys380ArgfsTer18) c.3699del (p.Lys1234ArgfsTer18) c.4464del (p.Lys1489ArgfsTer18) c.4653del (p.Lys1552ArgfsTer18) c.4446del (p.Lys1483ArgfsTer18) c.1149del (p.Lys384ArgfsTer18) c.1194del (p.Lys399ArgfsTer18) c.4650del (p.Lys1551ArgfsTer18) c.974del c.1161del (p.Lys388ArgfsTer18) c.4370del (n.4370del) c.900del (p.Lys301ArgfsTer18) c.5-10468del (n.5-10468del) c.60del (p.Lys21ArgfsTer18) c.-98-24229del (n.-98-24229del) n.4723del n.4764del	ClinVar dbSNP
17	g.43074419_43074420insT	CA2695225913	BRCA1	c.4583_4584insA (p.Lys1529Ter) c.4586_4587insA (p.Lys1530Ter) c.4460_4461insA (p.Lys1488Ter) c.4580_4581insA (p.Lys1528Ter) c.4508_4509insA (p.Lys1504Ter) c.1274_1275insA (p.Lys426Ter) c.1136_1137insA (p.Lys380Ter) c.3698_3699insA (p.Lys1234Ter) c.4463_4464insA (p.Lys1489Ter) c.4652_4653insA (p.Lys1552Ter) c.4445_4446insA (p.Lys1483Ter) c.1148_1149insA (p.Lys384Ter) c.1193_1194insA (p.Lys399Ter) c.4649_4650insA (p.Lys1551Ter) c.973_974insA c.1160_1161insA (p.Lys388Ter) c.4369_4370insA (n.4369_4370insA) c.899_900insA (p.Lys301Ter) c.5-10469_5-10468insA (n.5-10469_5-10468insA) c.59_60insA (p.Lys21Ter) c.-98-24230_-98-24229insA (n.-98-24230_-98-24229insA) n.4722_4723insA n.4763_4764insA
17	g.43074420A=	CA2260774497	BRCA1	c.4583T= (p.Ile1528=) c.4586T= (p.Ile1529=) c.4460T= (p.Ile1487=) c.4580T= (p.Ile1527=) c.4508T= (p.Ile1503=) c.1274T= (p.Ile425=) c.1136T= (p.Ile379=) c.3698T= (p.Ile1233=) c.4463T= (p.Ile1488=) c.4652T= (p.Ile1551=) c.4445T= (p.Ile1482=) c.1148T= (p.Ile383=) c.1193T= (p.Ile398=) c.4649T= (p.Ile1550=) c.973T= c.1160T= (p.Ile387=) c.4369T= (n.4369T=) c.899T= (p.Ile300=) c.5-10469T= (n.5-10469T=) c.59T= (p.Ile20=) c.-98-24230T= (n.-98-24230T=) n.4722T= n.4763T=
17	g.43074420A>C	CA10592339	BRCA1	c.4583T>G (p.Ile1528Ser) c.4586T>G (p.Ile1529Ser) c.4460T>G (p.Ile1487Ser) c.4580T>G (p.Ile1527Ser) c.4508T>G (p.Ile1503Ser) c.1274T>G (p.Ile425Ser) c.1136T>G (p.Ile379Ser) c.3698T>G (p.Ile1233Ser) c.4463T>G (p.Ile1488Ser) c.4652T>G (p.Ile1551Ser) c.4445T>G (p.Ile1482Ser) c.1148T>G (p.Ile383Ser) c.1193T>G (p.Ile398Ser) c.4649T>G (p.Ile1550Ser) c.973T>G c.1160T>G (p.Ile387Ser) c.4369T>G (n.4369T>G) c.899T>G (p.Ile300Ser) c.5-10469T>G (n.5-10469T>G) c.59T>G (p.Ile20Ser) c.-98-24230T>G (n.-98-24230T>G) n.4722T>G n.4763T>G	ClinVar dbSNP
17	g.43074420A>G	CA10592340	BRCA1	c.4583T>C (p.Ile1528Thr) c.4586T>C (p.Ile1529Thr) c.4460T>C (p.Ile1487Thr) c.4580T>C (p.Ile1527Thr) c.4508T>C (p.Ile1503Thr) c.1274T>C (p.Ile425Thr) c.1136T>C (p.Ile379Thr) c.3698T>C (p.Ile1233Thr) c.4463T>C (p.Ile1488Thr) c.4652T>C (p.Ile1551Thr) c.4445T>C (p.Ile1482Thr) c.1148T>C (p.Ile383Thr) c.1193T>C (p.Ile398Thr) c.4649T>C (p.Ile1550Thr) c.973T>C c.1160T>C (p.Ile387Thr) c.4369T>C (n.4369T>C) c.899T>C (p.Ile300Thr) c.5-10469T>C (n.5-10469T>C) c.59T>C (p.Ile20Thr) c.-98-24230T>C (n.-98-24230T>C) n.4722T>C n.4763T>C	ClinVar dbSNP gnomAD v4
17	g.43074420A>T	CA10592341	BRCA1	c.4583T>A (p.Ile1528Asn) c.4586T>A (p.Ile1529Asn) c.4460T>A (p.Ile1487Asn) c.4580T>A (p.Ile1527Asn) c.4508T>A (p.Ile1503Asn) c.1274T>A (p.Ile425Asn) c.1136T>A (p.Ile379Asn) c.3698T>A (p.Ile1233Asn) c.4463T>A (p.Ile1488Asn) c.4652T>A (p.Ile1551Asn) c.4445T>A (p.Ile1482Asn) c.1148T>A (p.Ile383Asn) c.1193T>A (p.Ile398Asn) c.4649T>A (p.Ile1550Asn) c.973T>A c.1160T>A (p.Ile387Asn) c.4369T>A (n.4369T>A) c.899T>A (p.Ile300Asn) c.5-10469T>A (n.5-10469T>A) c.59T>A (p.Ile20Asn) c.-98-24230T>A (n.-98-24230T>A) n.4722T>A n.4763T>A	dbSNP
17	g.43074420_43074431delinsATGAGCTCCTCT	CA2260774496	BRCA1	c.4572_4583delinsAGAGGAGCTCAT (p.Gln1524=) c.4575_4586delinsAGAGGAGCTCAT (p.Gln1525=) c.4449_4460delinsAGAGGAGCTCAT (p.Gln1483=) c.4569_4580delinsAGAGGAGCTCAT (p.Gln1523=) c.4497_4508delinsAGAGGAGCTCAT (p.Gln1499=) c.1263_1274delinsAGAGGAGCTCAT (p.Gln421=) c.1125_1136delinsAGAGGAGCTCAT (p.Gln375=) c.3687_3698delinsAGAGGAGCTCAT (p.Gln1229=) c.4452_4463delinsAGAGGAGCTCAT (p.Gln1484=) c.4641_4652delinsAGAGGAGCTCAT (p.Gln1547=) c.4434_4445delinsAGAGGAGCTCAT (p.Gln1478=) c.1137_1148delinsAGAGGAGCTCAT (p.Gln379=) c.1182_1193delinsAGAGGAGCTCAT (p.Gln394=) c.4638_4649delinsAGAGGAGCTCAT (p.Gln1546=) c.962_973delinsAGAGGAGCTCAT c.1149_1160delinsAGAGGAGCTCAT (p.Gln383=) c.4358_4369delinsAGAGGAGCTCAT (n.4358_4369delinsAGAGGAGCTCAT) c.888_899delinsAGAGGAGCTCAT (p.Gln296=) c.5-10480_5-10469delinsAGAGGAGCTCAT (n.5-10480_5-10469delinsAGAGGAGCTCAT) c.48_59delinsAGAGGAGCTCAT (p.Gln16=) c.-98-24241_-98-24230delinsAGAGGAGCTCAT (n.-98-24241_-98-24230delinsAGAGGAGCTCAT) n.4711_4722delinsAGAGGAGCTCAT n.4752_4763delinsAGAGGAGCTCAT
17	g.43074421T>A	CA10592342	BRCA1	c.4582A>T (p.Ile1528Phe) c.4585A>T (p.Ile1529Phe) c.4459A>T (p.Ile1487Phe) c.4579A>T (p.Ile1527Phe) c.4507A>T (p.Ile1503Phe) c.1273A>T (p.Ile425Phe) c.1135A>T (p.Ile379Phe) c.3697A>T (p.Ile1233Phe) c.4462A>T (p.Ile1488Phe) c.4651A>T (p.Ile1551Phe) c.4444A>T (p.Ile1482Phe) c.1147A>T (p.Ile383Phe) c.1192A>T (p.Ile398Phe) c.4648A>T (p.Ile1550Phe) c.972A>T c.1159A>T (p.Ile387Phe) c.4368A>T (n.4368A>T) c.898A>T (p.Ile300Phe) c.5-10470A>T (n.5-10470A>T) c.58A>T (p.Ile20Phe) c.-98-24231A>T (n.-98-24231A>T) n.4721A>T n.4762A>T	dbSNP
17	g.43074421T>C	CA002916	BRCA1	c.4582A>G (p.Ile1528Val) c.4585A>G (p.Ile1529Val) c.4459A>G (p.Ile1487Val) c.4579A>G (p.Ile1527Val) c.4507A>G (p.Ile1503Val) c.1273A>G (p.Ile425Val) c.1135A>G (p.Ile379Val) c.3697A>G (p.Ile1233Val) c.4462A>G (p.Ile1488Val) c.4651A>G (p.Ile1551Val) c.4444A>G (p.Ile1482Val) c.1147A>G (p.Ile383Val) c.1192A>G (p.Ile398Val) c.4648A>G (p.Ile1550Val) c.972A>G c.1159A>G (p.Ile387Val) c.4368A>G (n.4368A>G) c.898A>G (p.Ile300Val) c.5-10470A>G (n.5-10470A>G) c.58A>G (p.Ile20Val) c.-98-24231A>G (n.-98-24231A>G) n.4721A>G n.4762A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43074421T>G	CA10592343	BRCA1	c.4582A>C (p.Ile1528Leu) c.4585A>C (p.Ile1529Leu) c.4459A>C (p.Ile1487Leu) c.4579A>C (p.Ile1527Leu) c.4507A>C (p.Ile1503Leu) c.1273A>C (p.Ile425Leu) c.1135A>C (p.Ile379Leu) c.3697A>C (p.Ile1233Leu) c.4462A>C (p.Ile1488Leu) c.4651A>C (p.Ile1551Leu) c.4444A>C (p.Ile1482Leu) c.1147A>C (p.Ile383Leu) c.1192A>C (p.Ile398Leu) c.4648A>C (p.Ile1550Leu) c.972A>C c.1159A>C (p.Ile387Leu) c.4368A>C (n.4368A>C) c.898A>C (p.Ile300Leu) c.5-10470A>C (n.5-10470A>C) c.58A>C (p.Ile20Leu) c.-98-24231A>C (n.-98-24231A>C) n.4721A>C n.4762A>C	gnomAD v4
17	g.43074421T=	CA2260774498	BRCA1	c.4582A= (p.Ile1528=) c.4585A= (p.Ile1529=) c.4459A= (p.Ile1487=) c.4579A= (p.Ile1527=) c.4507A= (p.Ile1503=) c.1273A= (p.Ile425=) c.1135A= (p.Ile379=) c.3697A= (p.Ile1233=) c.4462A= (p.Ile1488=) c.4651A= (p.Ile1551=) c.4444A= (p.Ile1482=) c.1147A= (p.Ile383=) c.1192A= (p.Ile398=) c.4648A= (p.Ile1550=) c.972A= c.1159A= (p.Ile387=) c.4368A= (n.4368A=) c.898A= (p.Ile300=) c.5-10470A= (n.5-10470A=) c.58A= (p.Ile20=) c.-98-24231A= (n.-98-24231A=) n.4721A= n.4762A=
17	g.43074421dup	CA919844251	BRCA1	c.4582dup (p.Ile1528AsnfsTer2) c.4585dup (p.Ile1529AsnfsTer2) c.4459dup (p.Ile1487AsnfsTer2) c.4579dup (p.Ile1527AsnfsTer2) c.4507dup (p.Ile1503AsnfsTer2) c.1273dup (p.Ile425AsnfsTer2) c.1135dup (p.Ile379AsnfsTer2) c.3697dup (p.Ile1233AsnfsTer2) c.4462dup (p.Ile1488AsnfsTer2) c.4651dup (p.Ile1551AsnfsTer2) c.4444dup (p.Ile1482AsnfsTer2) c.1147dup (p.Ile383AsnfsTer2) c.1192dup (p.Ile398AsnfsTer2) c.4648dup (p.Ile1550AsnfsTer2) c.972dup c.1159dup (p.Ile387AsnfsTer2) c.4368dup (n.4368dup) c.898dup (p.Ile300AsnfsTer2) c.5-10470dup (n.5-10470dup) c.58dup (p.Ile20AsnfsTer2) c.-98-24231dup (n.-98-24231dup) n.4721dup n.4762dup	dbSNP
17	g.43074425_43074435del	CA002910	BRCA1	c.4572_4582del (p.Gln1524HisfsTer2) c.4575_4585del (p.Gln1525HisfsTer2) c.4449_4459del (p.Gln1483HisfsTer2) c.4569_4579del (p.Gln1523HisfsTer2) c.4497_4507del (p.Gln1499HisfsTer2) c.1263_1273del (p.Gln421HisfsTer2) c.1125_1135del (p.Gln375HisfsTer2) c.3687_3697del (p.Gln1229HisfsTer2) c.4452_4462del (p.Gln1484HisfsTer2) c.4641_4651del (p.Gln1547HisfsTer2) c.4434_4444del (p.Gln1478HisfsTer2) c.1137_1147del (p.Gln379HisfsTer2) c.1182_1192del (p.Gln394HisfsTer2) c.4638_4648del (p.Gln1546HisfsTer2) c.962_972del c.1149_1159del (p.Gln383HisfsTer2) c.4358_4368del (n.4358_4368del) c.888_898del (p.Gln296HisfsTer2) c.5-10480_5-10470del (n.5-10480_5-10470del) c.48_58del (p.Gln16HisfsTer2) c.-98-24241_-98-24231del (n.-98-24241_-98-24231del) n.4711_4721del n.4752_4762del	ClinVar dbSNP
17	g.43074422G>A	CA500146611	BRCA1	c.4581C>T (p.Leu1527=) c.4584C>T (p.Leu1528=) c.4458C>T (p.Leu1486=) c.4578C>T (p.Leu1526=) c.4506C>T (p.Leu1502=) c.1272C>T (p.Leu424=) c.1134C>T (p.Leu378=) c.3696C>T (p.Leu1232=) c.4461C>T (p.Leu1487=) c.4650C>T (p.Leu1550=) c.4443C>T (p.Leu1481=) c.1146C>T (p.Leu382=) c.1191C>T (p.Leu397=) c.4647C>T (p.Leu1549=) c.971C>T c.1158C>T (p.Leu386=) c.4367C>T (n.4367C>T) c.897C>T (p.Leu299=) c.5-10471C>T (n.5-10471C>T) c.57C>T (p.Leu19=) c.-98-24232C>T (n.-98-24232C>T) n.4720C>T n.4761C>T	ClinVar dbSNP
17	g.43074422G>C	CA500146613	BRCA1	c.4581C>G (p.Leu1527=) c.4584C>G (p.Leu1528=) c.4458C>G (p.Leu1486=) c.4578C>G (p.Leu1526=) c.4506C>G (p.Leu1502=) c.1272C>G (p.Leu424=) c.1134C>G (p.Leu378=) c.3696C>G (p.Leu1232=) c.4461C>G (p.Leu1487=) c.4650C>G (p.Leu1550=) c.4443C>G (p.Leu1481=) c.1146C>G (p.Leu382=) c.1191C>G (p.Leu397=) c.4647C>G (p.Leu1549=) c.971C>G c.1158C>G (p.Leu386=) c.4367C>G (n.4367C>G) c.897C>G (p.Leu299=) c.5-10471C>G (n.5-10471C>G) c.57C>G (p.Leu19=) c.-98-24232C>G (n.-98-24232C>G) n.4720C>G n.4761C>G	ClinVar
17	g.43074422G=	CA2260774499	BRCA1	c.4581C= (p.Leu1527=) c.4584C= (p.Leu1528=) c.4458C= (p.Leu1486=) c.4578C= (p.Leu1526=) c.4506C= (p.Leu1502=) c.1272C= (p.Leu424=) c.1134C= (p.Leu378=) c.3696C= (p.Leu1232=) c.4461C= (p.Leu1487=) c.4650C= (p.Leu1550=) c.4443C= (p.Leu1481=) c.1146C= (p.Leu382=) c.1191C= (p.Leu397=) c.4647C= (p.Leu1549=) c.971C= c.1158C= (p.Leu386=) c.4367C= (n.4367C=) c.897C= (p.Leu299=) c.5-10471C= (n.5-10471C=) c.57C= (p.Leu19=) c.-98-24232C= (n.-98-24232C=) n.4720C= n.4761C=
17	g.43074422G>T	CA500146612	BRCA1	c.4581C>A (p.Leu1527=) c.4584C>A (p.Leu1528=) c.4458C>A (p.Leu1486=) c.4578C>A (p.Leu1526=) c.4506C>A (p.Leu1502=) c.1272C>A (p.Leu424=) c.1134C>A (p.Leu378=) c.3696C>A (p.Leu1232=) c.4461C>A (p.Leu1487=) c.4650C>A (p.Leu1550=) c.4443C>A (p.Leu1481=) c.1146C>A (p.Leu382=) c.1191C>A (p.Leu397=) c.4647C>A (p.Leu1549=) c.971C>A c.1158C>A (p.Leu386=) c.4367C>A (n.4367C>A) c.897C>A (p.Leu299=) c.5-10471C>A (n.5-10471C>A) c.57C>A (p.Leu19=) c.-98-24232C>A (n.-98-24232C>A) n.4720C>A n.4761C>A
17	g.43074423A=	CA2260774500	BRCA1	c.4580T= (p.Leu1527=) c.4583T= (p.Leu1528=) c.4457T= (p.Leu1486=) c.4577T= (p.Leu1526=) c.4505T= (p.Leu1502=) c.1271T= (p.Leu424=) c.1133T= (p.Leu378=) c.3695T= (p.Leu1232=) c.4460T= (p.Leu1487=) c.4649T= (p.Leu1550=) c.4442T= (p.Leu1481=) c.1145T= (p.Leu382=) c.1190T= (p.Leu397=) c.4646T= (p.Leu1549=) c.970T= c.1157T= (p.Leu386=) c.4366T= (n.4366T=) c.896T= (p.Leu299=) c.5-10472T= (n.5-10472T=) c.56T= (p.Leu19=) c.-98-24233T= (n.-98-24233T=) n.4719T= n.4760T=
17	g.43074423A>C	CA10592344	BRCA1	c.4580T>G (p.Leu1527Arg) c.4583T>G (p.Leu1528Arg) c.4457T>G (p.Leu1486Arg) c.4577T>G (p.Leu1526Arg) c.4505T>G (p.Leu1502Arg) c.1271T>G (p.Leu424Arg) c.1133T>G (p.Leu378Arg) c.3695T>G (p.Leu1232Arg) c.4460T>G (p.Leu1487Arg) c.4649T>G (p.Leu1550Arg) c.4442T>G (p.Leu1481Arg) c.1145T>G (p.Leu382Arg) c.1190T>G (p.Leu397Arg) c.4646T>G (p.Leu1549Arg) c.970T>G c.1157T>G (p.Leu386Arg) c.4366T>G (n.4366T>G) c.896T>G (p.Leu299Arg) c.5-10472T>G (n.5-10472T>G) c.56T>G (p.Leu19Arg) c.-98-24233T>G (n.-98-24233T>G) n.4719T>G n.4760T>G
17	g.43074423A>G	CA10592345	BRCA1	c.4580T>C (p.Leu1527Pro) c.4583T>C (p.Leu1528Pro) c.4457T>C (p.Leu1486Pro) c.4577T>C (p.Leu1526Pro) c.4505T>C (p.Leu1502Pro) c.1271T>C (p.Leu424Pro) c.1133T>C (p.Leu378Pro) c.3695T>C (p.Leu1232Pro) c.4460T>C (p.Leu1487Pro) c.4649T>C (p.Leu1550Pro) c.4442T>C (p.Leu1481Pro) c.1145T>C (p.Leu382Pro) c.1190T>C (p.Leu397Pro) c.4646T>C (p.Leu1549Pro) c.970T>C c.1157T>C (p.Leu386Pro) c.4366T>C (n.4366T>C) c.896T>C (p.Leu299Pro) c.5-10472T>C (n.5-10472T>C) c.56T>C (p.Leu19Pro) c.-98-24233T>C (n.-98-24233T>C) n.4719T>C n.4760T>C	ClinVar dbSNP gnomAD v4
17	g.43074423A>T	CA10592346	BRCA1	c.4580T>A (p.Leu1527His) c.4583T>A (p.Leu1528His) c.4457T>A (p.Leu1486His) c.4577T>A (p.Leu1526His) c.4505T>A (p.Leu1502His) c.1271T>A (p.Leu424His) c.1133T>A (p.Leu378His) c.3695T>A (p.Leu1232His) c.4460T>A (p.Leu1487His) c.4649T>A (p.Leu1550His) c.4442T>A (p.Leu1481His) c.1145T>A (p.Leu382His) c.1190T>A (p.Leu397His) c.4646T>A (p.Leu1549His) c.970T>A c.1157T>A (p.Leu386His) c.4366T>A (n.4366T>A) c.896T>A (p.Leu299His) c.5-10472T>A (n.5-10472T>A) c.56T>A (p.Leu19His) c.-98-24233T>A (n.-98-24233T>A) n.4719T>A n.4760T>A	dbSNP
17	g.43074424G>A	CA10592347	BRCA1	c.4579C>T (p.Leu1527Phe) c.4582C>T (p.Leu1528Phe) c.4456C>T (p.Leu1486Phe) c.4576C>T (p.Leu1526Phe) c.4504C>T (p.Leu1502Phe) c.1270C>T (p.Leu424Phe) c.1132C>T (p.Leu378Phe) c.3694C>T (p.Leu1232Phe) c.4459C>T (p.Leu1487Phe) c.4648C>T (p.Leu1550Phe) c.4441C>T (p.Leu1481Phe) c.1144C>T (p.Leu382Phe) c.1189C>T (p.Leu397Phe) c.4645C>T (p.Leu1549Phe) c.969C>T c.1156C>T (p.Leu386Phe) c.4365C>T (n.4365C>T) c.895C>T (p.Leu299Phe) c.5-10473C>T (n.5-10473C>T) c.55C>T (p.Leu19Phe) c.-98-24234C>T (n.-98-24234C>T) n.4718C>T n.4759C>T	dbSNP
17	g.43074424G>C	CA10592348	BRCA1	c.4579C>G (p.Leu1527Val) c.4582C>G (p.Leu1528Val) c.4456C>G (p.Leu1486Val) c.4576C>G (p.Leu1526Val) c.4504C>G (p.Leu1502Val) c.1270C>G (p.Leu424Val) c.1132C>G (p.Leu378Val) c.3694C>G (p.Leu1232Val) c.4459C>G (p.Leu1487Val) c.4648C>G (p.Leu1550Val) c.4441C>G (p.Leu1481Val) c.1144C>G (p.Leu382Val) c.1189C>G (p.Leu397Val) c.4645C>G (p.Leu1549Val) c.969C>G c.1156C>G (p.Leu386Val) c.4365C>G (n.4365C>G) c.895C>G (p.Leu299Val) c.5-10473C>G (n.5-10473C>G) c.55C>G (p.Leu19Val) c.-98-24234C>G (n.-98-24234C>G) n.4718C>G n.4759C>G	ClinVar dbSNP
17	g.43074424G=	CA2260774501	BRCA1	c.4579C= (p.Leu1527=) c.4582C= (p.Leu1528=) c.4456C= (p.Leu1486=) c.4576C= (p.Leu1526=) c.4504C= (p.Leu1502=) c.1270C= (p.Leu424=) c.1132C= (p.Leu378=) c.3694C= (p.Leu1232=) c.4459C= (p.Leu1487=) c.4648C= (p.Leu1550=) c.4441C= (p.Leu1481=) c.1144C= (p.Leu382=) c.1189C= (p.Leu397=) c.4645C= (p.Leu1549=) c.969C= c.1156C= (p.Leu386=) c.4365C= (n.4365C=) c.895C= (p.Leu299=) c.5-10473C= (n.5-10473C=) c.55C= (p.Leu19=) c.-98-24234C= (n.-98-24234C=) n.4718C= n.4759C=
17	g.43074424G>T	CA10592349	BRCA1	c.4579C>A (p.Leu1527Ile) c.4582C>A (p.Leu1528Ile) c.4456C>A (p.Leu1486Ile) c.4576C>A (p.Leu1526Ile) c.4504C>A (p.Leu1502Ile) c.1270C>A (p.Leu424Ile) c.1132C>A (p.Leu378Ile) c.3694C>A (p.Leu1232Ile) c.4459C>A (p.Leu1487Ile) c.4648C>A (p.Leu1550Ile) c.4441C>A (p.Leu1481Ile) c.1144C>A (p.Leu382Ile) c.1189C>A (p.Leu397Ile) c.4645C>A (p.Leu1549Ile) c.969C>A c.1156C>A (p.Leu386Ile) c.4365C>A (n.4365C>A) c.895C>A (p.Leu299Ile) c.5-10473C>A (n.5-10473C>A) c.55C>A (p.Leu19Ile) c.-98-24234C>A (n.-98-24234C>A) n.4718C>A n.4759C>A	dbSNP
17	g.43074425C>A	CA10592350	BRCA1	c.4578G>T (p.Glu1526Asp) c.4581G>T (p.Glu1527Asp) c.4455G>T (p.Glu1485Asp) c.4575G>T (p.Glu1525Asp) c.4503G>T (p.Glu1501Asp) c.1269G>T (p.Glu423Asp) c.1131G>T (p.Glu377Asp) c.3693G>T (p.Glu1231Asp) c.4458G>T (p.Glu1486Asp) c.4647G>T (p.Glu1549Asp) c.4440G>T (p.Glu1480Asp) c.1143G>T (p.Glu381Asp) c.1188G>T (p.Glu396Asp) c.4644G>T (p.Glu1548Asp) c.968G>T c.1155G>T (p.Glu385Asp) c.4364G>T (n.4364G>T) c.894G>T (p.Glu298Asp) c.5-10474G>T (n.5-10474G>T) c.54G>T (p.Glu18Asp) c.-98-24235G>T (n.-98-24235G>T) n.4717G>T n.4758G>T	ClinVar dbSNP COSMIC COSMIC
17	g.43074425C=	CA2260774502	BRCA1	c.4578G= (p.Glu1526=) c.4581G= (p.Glu1527=) c.4455G= (p.Glu1485=) c.4575G= (p.Glu1525=) c.4503G= (p.Glu1501=) c.1269G= (p.Glu423=) c.1131G= (p.Glu377=) c.3693G= (p.Glu1231=) c.4458G= (p.Glu1486=) c.4647G= (p.Glu1549=) c.4440G= (p.Glu1480=) c.1143G= (p.Glu381=) c.1188G= (p.Glu396=) c.4644G= (p.Glu1548=) c.968G= c.1155G= (p.Glu385=) c.4364G= (n.4364G=) c.894G= (p.Glu298=) c.5-10474G= (n.5-10474G=) c.54G= (p.Glu18=) c.-98-24235G= (n.-98-24235G=) n.4717G= n.4758G=
17	g.43074425C>G	CA10592351	BRCA1	c.4578G>C (p.Glu1526Asp) c.4581G>C (p.Glu1527Asp) c.4455G>C (p.Glu1485Asp) c.4575G>C (p.Glu1525Asp) c.4503G>C (p.Glu1501Asp) c.1269G>C (p.Glu423Asp) c.1131G>C (p.Glu377Asp) c.3693G>C (p.Glu1231Asp) c.4458G>C (p.Glu1486Asp) c.4647G>C (p.Glu1549Asp) c.4440G>C (p.Glu1480Asp) c.1143G>C (p.Glu381Asp) c.1188G>C (p.Glu396Asp) c.4644G>C (p.Glu1548Asp) c.968G>C c.1155G>C (p.Glu385Asp) c.4364G>C (n.4364G>C) c.894G>C (p.Glu298Asp) c.5-10474G>C (n.5-10474G>C) c.54G>C (p.Glu18Asp) c.-98-24235G>C (n.-98-24235G>C) n.4717G>C n.4758G>C	dbSNP
17	g.43074425C>T	CA16615662	BRCA1	c.4578G>A (p.Glu1526=) c.4581G>A (p.Glu1527=) c.4455G>A (p.Glu1485=) c.4575G>A (p.Glu1525=) c.4503G>A (p.Glu1501=) c.1269G>A (p.Glu423=) c.1131G>A (p.Glu377=) c.3693G>A (p.Glu1231=) c.4458G>A (p.Glu1486=) c.4647G>A (p.Glu1549=) c.4440G>A (p.Glu1480=) c.1143G>A (p.Glu381=) c.1188G>A (p.Glu396=) c.4644G>A (p.Glu1548=) c.968G>A c.1155G>A (p.Glu385=) c.4364G>A (n.4364G>A) c.894G>A (p.Glu298=) c.5-10474G>A (n.5-10474G>A) c.54G>A (p.Glu18=) c.-98-24235G>A (n.-98-24235G>A) n.4717G>A n.4758G>A	ClinVar dbSNP gnomAD v4
17	g.43074426T>A	CA10592352	BRCA1	c.4577A>T (p.Glu1526Val) c.4580A>T (p.Glu1527Val) c.4454A>T (p.Glu1485Val) c.4574A>T (p.Glu1525Val) c.4502A>T (p.Glu1501Val) c.1268A>T (p.Glu423Val) c.1130A>T (p.Glu377Val) c.3692A>T (p.Glu1231Val) c.4457A>T (p.Glu1486Val) c.4646A>T (p.Glu1549Val) c.4439A>T (p.Glu1480Val) c.1142A>T (p.Glu381Val) c.1187A>T (p.Glu396Val) c.4643A>T (p.Glu1548Val) c.967A>T c.1154A>T (p.Glu385Val) c.4363A>T (n.4363A>T) c.893A>T (p.Glu298Val) c.5-10475A>T (n.5-10475A>T) c.53A>T (p.Glu18Val) c.-98-24236A>T (n.-98-24236A>T) n.4716A>T n.4757A>T	ClinVar dbSNP
17	g.43074426T>C	CA10592353	BRCA1	c.4577A>G (p.Glu1526Gly) c.4580A>G (p.Glu1527Gly) c.4454A>G (p.Glu1485Gly) c.4574A>G (p.Glu1525Gly) c.4502A>G (p.Glu1501Gly) c.1268A>G (p.Glu423Gly) c.1130A>G (p.Glu377Gly) c.3692A>G (p.Glu1231Gly) c.4457A>G (p.Glu1486Gly) c.4646A>G (p.Glu1549Gly) c.4439A>G (p.Glu1480Gly) c.1142A>G (p.Glu381Gly) c.1187A>G (p.Glu396Gly) c.4643A>G (p.Glu1548Gly) c.967A>G c.1154A>G (p.Glu385Gly) c.4363A>G (n.4363A>G) c.893A>G (p.Glu298Gly) c.5-10475A>G (n.5-10475A>G) c.53A>G (p.Glu18Gly) c.-98-24236A>G (n.-98-24236A>G) n.4716A>G n.4757A>G	ClinVar dbSNP
17	g.43074426T>G	CA10592354	BRCA1	c.4577A>C (p.Glu1526Ala) c.4580A>C (p.Glu1527Ala) c.4454A>C (p.Glu1485Ala) c.4574A>C (p.Glu1525Ala) c.4502A>C (p.Glu1501Ala) c.1268A>C (p.Glu423Ala) c.1130A>C (p.Glu377Ala) c.3692A>C (p.Glu1231Ala) c.4457A>C (p.Glu1486Ala) c.4646A>C (p.Glu1549Ala) c.4439A>C (p.Glu1480Ala) c.1142A>C (p.Glu381Ala) c.1187A>C (p.Glu396Ala) c.4643A>C (p.Glu1548Ala) c.967A>C c.1154A>C (p.Glu385Ala) c.4363A>C (n.4363A>C) c.893A>C (p.Glu298Ala) c.5-10475A>C (n.5-10475A>C) c.53A>C (p.Glu18Ala) c.-98-24236A>C (n.-98-24236A>C) n.4716A>C n.4757A>C	ClinVar gnomAD v4
17	g.43074426T=	CA2260774503	BRCA1	c.4577A= (p.Glu1526=) c.4580A= (p.Glu1527=) c.4454A= (p.Glu1485=) c.4574A= (p.Glu1525=) c.4502A= (p.Glu1501=) c.1268A= (p.Glu423=) c.1130A= (p.Glu377=) c.3692A= (p.Glu1231=) c.4457A= (p.Glu1486=) c.4646A= (p.Glu1549=) c.4439A= (p.Glu1480=) c.1142A= (p.Glu381=) c.1187A= (p.Glu396=) c.4643A= (p.Glu1548=) c.967A= c.1154A= (p.Glu385=) c.4363A= (n.4363A=) c.893A= (p.Glu298=) c.5-10475A= (n.5-10475A=) c.53A= (p.Glu18=) c.-98-24236A= (n.-98-24236A=) n.4716A= n.4757A=
17	g.43074426_43074427delinsAA	CA2695225914	BRCA1	c.4576_4577delinsTT (p.Glu1526Leu) c.4579_4580delinsTT (p.Glu1527Leu) c.4453_4454delinsTT (p.Glu1485Leu) c.4573_4574delinsTT (p.Glu1525Leu) c.4501_4502delinsTT (p.Glu1501Leu) c.1267_1268delinsTT (p.Glu423Leu) c.1129_1130delinsTT (p.Glu377Leu) c.3691_3692delinsTT (p.Glu1231Leu) c.4456_4457delinsTT (p.Glu1486Leu) c.4645_4646delinsTT (p.Glu1549Leu) c.4438_4439delinsTT (p.Glu1480Leu) c.1141_1142delinsTT (p.Glu381Leu) c.1186_1187delinsTT (p.Glu396Leu) c.4642_4643delinsTT (p.Glu1548Leu) c.966_967delinsTT c.1153_1154delinsTT (p.Glu385Leu) c.4362_4363delinsTT (n.4362_4363delinsTT) c.892_893delinsTT (p.Glu298Leu) c.5-10476_5-10475delinsTT (n.5-10476_5-10475delinsTT) c.52_53delinsTT (p.Glu18Leu) c.-98-24237_-98-24236delinsTT (n.-98-24237_-98-24236delinsTT) n.4715_4716delinsTT n.4756_4757delinsTT
17	g.43074426_43074427delinsAT	CA658825014	BRCA1	c.4576_4577delinsAT (p.Glu1526Met) c.4579_4580delinsAT (p.Glu1527Met) c.4453_4454delinsAT (p.Glu1485Met) c.4573_4574delinsAT (p.Glu1525Met) c.4501_4502delinsAT (p.Glu1501Met) c.1267_1268delinsAT (p.Glu423Met) c.1129_1130delinsAT (p.Glu377Met) c.3691_3692delinsAT (p.Glu1231Met) c.4456_4457delinsAT (p.Glu1486Met) c.4645_4646delinsAT (p.Glu1549Met) c.4438_4439delinsAT (p.Glu1480Met) c.1141_1142delinsAT (p.Glu381Met) c.1186_1187delinsAT (p.Glu396Met) c.4642_4643delinsAT (p.Glu1548Met) c.966_967delinsAT c.1153_1154delinsAT (p.Glu385Met) c.4362_4363delinsAT (n.4362_4363delinsAT) c.892_893delinsAT (p.Glu298Met) c.5-10476_5-10475delinsAT (n.5-10476_5-10475delinsAT) c.52_53delinsAT (p.Glu18Met) c.-98-24237_-98-24236delinsAT (n.-98-24237_-98-24236delinsAT) n.4715_4716delinsAT n.4756_4757delinsAT	ClinVar dbSNP
17	g.43074426_43074427delinsTC	CA2260774504	BRCA1	c.4576_4577delinsGA (p.Glu1526=) c.4579_4580delinsGA (p.Glu1527=) c.4453_4454delinsGA (p.Glu1485=) c.4573_4574delinsGA (p.Glu1525=) c.4501_4502delinsGA (p.Glu1501=) c.1267_1268delinsGA (p.Glu423=) c.1129_1130delinsGA (p.Glu377=) c.3691_3692delinsGA (p.Glu1231=) c.4456_4457delinsGA (p.Glu1486=) c.4645_4646delinsGA (p.Glu1549=) c.4438_4439delinsGA (p.Glu1480=) c.1141_1142delinsGA (p.Glu381=) c.1186_1187delinsGA (p.Glu396=) c.4642_4643delinsGA (p.Glu1548=) c.966_967delinsGA c.1153_1154delinsGA (p.Glu385=) c.4362_4363delinsGA (n.4362_4363delinsGA) c.892_893delinsGA (p.Glu298=) c.5-10476_5-10475delinsGA (n.5-10476_5-10475delinsGA) c.52_53delinsGA (p.Glu18=) c.-98-24237_-98-24236delinsGA (n.-98-24237_-98-24236delinsGA) n.4715_4716delinsGA n.4756_4757delinsGA
17	g.43074427C>A	CA10592355	BRCA1	c.4576G>T (p.Glu1526Ter) c.4579G>T (p.Glu1527Ter) c.4453G>T (p.Glu1485Ter) c.4573G>T (p.Glu1525Ter) c.4501G>T (p.Glu1501Ter) c.1267G>T (p.Glu423Ter) c.1129G>T (p.Glu377Ter) c.3691G>T (p.Glu1231Ter) c.4456G>T (p.Glu1486Ter) c.4645G>T (p.Glu1549Ter) c.4438G>T (p.Glu1480Ter) c.1141G>T (p.Glu381Ter) c.1186G>T (p.Glu396Ter) c.4642G>T (p.Glu1548Ter) c.966G>T c.1153G>T (p.Glu385Ter) c.4362G>T (n.4362G>T) c.892G>T (p.Glu298Ter) c.5-10476G>T (n.5-10476G>T) c.52G>T (p.Glu18Ter) c.-98-24237G>T (n.-98-24237G>T) n.4715G>T n.4756G>T	ClinVar dbSNP
17	g.43074427C=	CA2260774505	BRCA1	c.4576G= (p.Glu1526=) c.4579G= (p.Glu1527=) c.4453G= (p.Glu1485=) c.4573G= (p.Glu1525=) c.4501G= (p.Glu1501=) c.1267G= (p.Glu423=) c.1129G= (p.Glu377=) c.3691G= (p.Glu1231=) c.4456G= (p.Glu1486=) c.4645G= (p.Glu1549=) c.4438G= (p.Glu1480=) c.1141G= (p.Glu381=) c.1186G= (p.Glu396=) c.4642G= (p.Glu1548=) c.966G= c.1153G= (p.Glu385=) c.4362G= (n.4362G=) c.892G= (p.Glu298=) c.5-10476G= (n.5-10476G=) c.52G= (p.Glu18=) c.-98-24237G= (n.-98-24237G=) n.4715G= n.4756G=
17	g.43074427C>G	CA10592356	BRCA1	c.4576G>C (p.Glu1526Gln) c.4579G>C (p.Glu1527Gln) c.4453G>C (p.Glu1485Gln) c.4573G>C (p.Glu1525Gln) c.4501G>C (p.Glu1501Gln) c.1267G>C (p.Glu423Gln) c.1129G>C (p.Glu377Gln) c.3691G>C (p.Glu1231Gln) c.4456G>C (p.Glu1486Gln) c.4645G>C (p.Glu1549Gln) c.4438G>C (p.Glu1480Gln) c.1141G>C (p.Glu381Gln) c.1186G>C (p.Glu396Gln) c.4642G>C (p.Glu1548Gln) c.966G>C c.1153G>C (p.Glu385Gln) c.4362G>C (n.4362G>C) c.892G>C (p.Glu298Gln) c.5-10476G>C (n.5-10476G>C) c.52G>C (p.Glu18Gln) c.-98-24237G>C (n.-98-24237G>C) n.4715G>C n.4756G>C	dbSNP
17	g.43074427C>T	CA002912	BRCA1	c.4576G>A (p.Glu1526Lys) c.4579G>A (p.Glu1527Lys) c.4453G>A (p.Glu1485Lys) c.4573G>A (p.Glu1525Lys) c.4501G>A (p.Glu1501Lys) c.1267G>A (p.Glu423Lys) c.1129G>A (p.Glu377Lys) c.3691G>A (p.Glu1231Lys) c.4456G>A (p.Glu1486Lys) c.4645G>A (p.Glu1549Lys) c.4438G>A (p.Glu1480Lys) c.1141G>A (p.Glu381Lys) c.1186G>A (p.Glu396Lys) c.4642G>A (p.Glu1548Lys) c.966G>A c.1153G>A (p.Glu385Lys) c.4362G>A (n.4362G>A) c.892G>A (p.Glu298Lys) c.5-10476G>A (n.5-10476G>A) c.52G>A (p.Glu18Lys) c.-98-24237G>A (n.-98-24237G>A) n.4715G>A n.4756G>A	ClinVar dbSNP
17	g.43074428C>A	CA10592357	BRCA1	c.4575G>T (p.Glu1525Asp) c.4578G>T (p.Glu1526Asp) c.4452G>T (p.Glu1484Asp) c.4572G>T (p.Glu1524Asp) c.4500G>T (p.Glu1500Asp) c.1266G>T (p.Glu422Asp) c.1128G>T (p.Glu376Asp) c.3690G>T (p.Glu1230Asp) c.4455G>T (p.Glu1485Asp) c.4644G>T (p.Glu1548Asp) c.4437G>T (p.Glu1479Asp) c.1140G>T (p.Glu380Asp) c.1185G>T (p.Glu395Asp) c.4641G>T (p.Glu1547Asp) c.965G>T c.1152G>T (p.Glu384Asp) c.4361G>T (n.4361G>T) c.891G>T (p.Glu297Asp) c.5-10477G>T (n.5-10477G>T) c.51G>T (p.Glu17Asp) c.-98-24238G>T (n.-98-24238G>T) n.4714G>T n.4755G>T
17	g.43074428C>G	CA10592358	BRCA1	c.4575G>C (p.Glu1525Asp) c.4578G>C (p.Glu1526Asp) c.4452G>C (p.Glu1484Asp) c.4572G>C (p.Glu1524Asp) c.4500G>C (p.Glu1500Asp) c.1266G>C (p.Glu422Asp) c.1128G>C (p.Glu376Asp) c.3690G>C (p.Glu1230Asp) c.4455G>C (p.Glu1485Asp) c.4644G>C (p.Glu1548Asp) c.4437G>C (p.Glu1479Asp) c.1140G>C (p.Glu380Asp) c.1185G>C (p.Glu395Asp) c.4641G>C (p.Glu1547Asp) c.965G>C c.1152G>C (p.Glu384Asp) c.4361G>C (n.4361G>C) c.891G>C (p.Glu297Asp) c.5-10477G>C (n.5-10477G>C) c.51G>C (p.Glu17Asp) c.-98-24238G>C (n.-98-24238G>C) n.4714G>C n.4755G>C
17	g.43074428C>T	CA500146614	BRCA1	c.4575G>A (p.Glu1525=) c.4578G>A (p.Glu1526=) c.4452G>A (p.Glu1484=) c.4572G>A (p.Glu1524=) c.4500G>A (p.Glu1500=) c.1266G>A (p.Glu422=) c.1128G>A (p.Glu376=) c.3690G>A (p.Glu1230=) c.4455G>A (p.Glu1485=) c.4644G>A (p.Glu1548=) c.4437G>A (p.Glu1479=) c.1140G>A (p.Glu380=) c.1185G>A (p.Glu395=) c.4641G>A (p.Glu1547=) c.965G>A c.1152G>A (p.Glu384=) c.4361G>A (n.4361G>A) c.891G>A (p.Glu297=) c.5-10477G>A (n.5-10477G>A) c.51G>A (p.Glu17=) c.-98-24238G>A (n.-98-24238G>A) n.4714G>A n.4755G>A	dbSNP
17	g.43074429T>A	CA10592359	BRCA1	c.4574A>T (p.Glu1525Val) c.4577A>T (p.Glu1526Val) c.4451A>T (p.Glu1484Val) c.4571A>T (p.Glu1524Val) c.4499A>T (p.Glu1500Val) c.1265A>T (p.Glu422Val) c.1127A>T (p.Glu376Val) c.3689A>T (p.Glu1230Val) c.4454A>T (p.Glu1485Val) c.4643A>T (p.Glu1548Val) c.4436A>T (p.Glu1479Val) c.1139A>T (p.Glu380Val) c.1184A>T (p.Glu395Val) c.4640A>T (p.Glu1547Val) c.964A>T c.1151A>T (p.Glu384Val) c.4360A>T (n.4360A>T) c.890A>T (p.Glu297Val) c.5-10478A>T (n.5-10478A>T) c.50A>T (p.Glu17Val) c.-98-24239A>T (n.-98-24239A>T) n.4713A>T n.4754A>T
17	g.43074429T>C	CA10592360	BRCA1	c.4574A>G (p.Glu1525Gly) c.4577A>G (p.Glu1526Gly) c.4451A>G (p.Glu1484Gly) c.4571A>G (p.Glu1524Gly) c.4499A>G (p.Glu1500Gly) c.1265A>G (p.Glu422Gly) c.1127A>G (p.Glu376Gly) c.3689A>G (p.Glu1230Gly) c.4454A>G (p.Glu1485Gly) c.4643A>G (p.Glu1548Gly) c.4436A>G (p.Glu1479Gly) c.1139A>G (p.Glu380Gly) c.1184A>G (p.Glu395Gly) c.4640A>G (p.Glu1547Gly) c.964A>G c.1151A>G (p.Glu384Gly) c.4360A>G (n.4360A>G) c.890A>G (p.Glu297Gly) c.5-10478A>G (n.5-10478A>G) c.50A>G (p.Glu17Gly) c.-98-24239A>G (n.-98-24239A>G) n.4713A>G n.4754A>G	dbSNP
17	g.43074429T>G	CA10592361	BRCA1	c.4574A>C (p.Glu1525Ala) c.4577A>C (p.Glu1526Ala) c.4451A>C (p.Glu1484Ala) c.4571A>C (p.Glu1524Ala) c.4499A>C (p.Glu1500Ala) c.1265A>C (p.Glu422Ala) c.1127A>C (p.Glu376Ala) c.3689A>C (p.Glu1230Ala) c.4454A>C (p.Glu1485Ala) c.4643A>C (p.Glu1548Ala) c.4436A>C (p.Glu1479Ala) c.1139A>C (p.Glu380Ala) c.1184A>C (p.Glu395Ala) c.4640A>C (p.Glu1547Ala) c.964A>C c.1151A>C (p.Glu384Ala) c.4360A>C (n.4360A>C) c.890A>C (p.Glu297Ala) c.5-10478A>C (n.5-10478A>C) c.50A>C (p.Glu17Ala) c.-98-24239A>C (n.-98-24239A>C) n.4713A>C n.4754A>C
17	g.43074430C>A	CA10581598	BRCA1	c.4573G>T (p.Glu1525Ter) c.4576G>T (p.Glu1526Ter) c.4450G>T (p.Glu1484Ter) c.4570G>T (p.Glu1524Ter) c.4498G>T (p.Glu1500Ter) c.1264G>T (p.Glu422Ter) c.1126G>T (p.Glu376Ter) c.3688G>T (p.Glu1230Ter) c.4453G>T (p.Glu1485Ter) c.4642G>T (p.Glu1548Ter) c.4435G>T (p.Glu1479Ter) c.1138G>T (p.Glu380Ter) c.1183G>T (p.Glu395Ter) c.4639G>T (p.Glu1547Ter) c.963G>T c.1150G>T (p.Glu384Ter) c.4359G>T (n.4359G>T) c.889G>T (p.Glu297Ter) c.5-10479G>T (n.5-10479G>T) c.49G>T (p.Glu17Ter) c.-98-24240G>T (n.-98-24240G>T) n.4712G>T n.4753G>T	ClinVar dbSNP
17	g.43074430C=	CA2260774507	BRCA1	c.4573G= (p.Glu1525=) c.4576G= (p.Glu1526=) c.4450G= (p.Glu1484=) c.4570G= (p.Glu1524=) c.4498G= (p.Glu1500=) c.1264G= (p.Glu422=) c.1126G= (p.Glu376=) c.3688G= (p.Glu1230=) c.4453G= (p.Glu1485=) c.4642G= (p.Glu1548=) c.4435G= (p.Glu1479=) c.1138G= (p.Glu380=) c.1183G= (p.Glu395=) c.4639G= (p.Glu1547=) c.963G= c.1150G= (p.Glu384=) c.4359G= (n.4359G=) c.889G= (p.Glu297=) c.5-10479G= (n.5-10479G=) c.49G= (p.Glu17=) c.-98-24240G= (n.-98-24240G=) n.4712G= n.4753G=
17	g.43074430C>G	CA10592362	BRCA1	c.4573G>C (p.Glu1525Gln) c.4576G>C (p.Glu1526Gln) c.4450G>C (p.Glu1484Gln) c.4570G>C (p.Glu1524Gln) c.4498G>C (p.Glu1500Gln) c.1264G>C (p.Glu422Gln) c.1126G>C (p.Glu376Gln) c.3688G>C (p.Glu1230Gln) c.4453G>C (p.Glu1485Gln) c.4642G>C (p.Glu1548Gln) c.4435G>C (p.Glu1479Gln) c.1138G>C (p.Glu380Gln) c.1183G>C (p.Glu395Gln) c.4639G>C (p.Glu1547Gln) c.963G>C c.1150G>C (p.Glu384Gln) c.4359G>C (n.4359G>C) c.889G>C (p.Glu297Gln) c.5-10479G>C (n.5-10479G>C) c.49G>C (p.Glu17Gln) c.-98-24240G>C (n.-98-24240G>C) n.4712G>C n.4753G>C	ClinVar dbSNP
17	g.43074430C>T	CA10592363	BRCA1	c.4573G>A (p.Glu1525Lys) c.4576G>A (p.Glu1526Lys) c.4450G>A (p.Glu1484Lys) c.4570G>A (p.Glu1524Lys) c.4498G>A (p.Glu1500Lys) c.1264G>A (p.Glu422Lys) c.1126G>A (p.Glu376Lys) c.3688G>A (p.Glu1230Lys) c.4453G>A (p.Glu1485Lys) c.4642G>A (p.Glu1548Lys) c.4435G>A (p.Glu1479Lys) c.1138G>A (p.Glu380Lys) c.1183G>A (p.Glu395Lys) c.4639G>A (p.Glu1547Lys) c.963G>A c.1150G>A (p.Glu384Lys) c.4359G>A (n.4359G>A) c.889G>A (p.Glu297Lys) c.5-10479G>A (n.5-10479G>A) c.49G>A (p.Glu17Lys) c.-98-24240G>A (n.-98-24240G>A) n.4712G>A n.4753G>A	ClinVar dbSNP
17	g.43074430_43074432delinsCTT	CA2260774506	BRCA1	c.4571_4573delinsAAG (p.Gln1524=) c.4574_4576delinsAAG (p.Gln1525=) c.4448_4450delinsAAG (p.Gln1483=) c.4568_4570delinsAAG (p.Gln1523=) c.4496_4498delinsAAG (p.Gln1499=) c.1262_1264delinsAAG (p.Gln421=) c.1124_1126delinsAAG (p.Gln375=) c.3686_3688delinsAAG (p.Gln1229=) c.4451_4453delinsAAG (p.Gln1484=) c.4640_4642delinsAAG (p.Gln1547=) c.4433_4435delinsAAG (p.Gln1478=) c.1136_1138delinsAAG (p.Gln379=) c.1181_1183delinsAAG (p.Gln394=) c.4637_4639delinsAAG (p.Gln1546=) c.961_963delinsAAG c.1148_1150delinsAAG (p.Gln383=) c.4357_4359delinsAAG (n.4357_4359delinsAAG) c.887_889delinsAAG (p.Gln296=) c.5-10481_5-10479delinsAAG (n.5-10481_5-10479delinsAAG) c.47_49delinsAAG (p.Gln16=) c.-98-24242_-98-24240delinsAAG (n.-98-24242_-98-24240delinsAAG) n.4710_4712delinsAAG n.4751_4753delinsAAG
17	g.43074431T>A	CA10592364	BRCA1	c.4572A>T (p.Gln1524His) c.4575A>T (p.Gln1525His) c.4449A>T (p.Gln1483His) c.4569A>T (p.Gln1523His) c.4497A>T (p.Gln1499His) c.1263A>T (p.Gln421His) c.1125A>T (p.Gln375His) c.3687A>T (p.Gln1229His) c.4452A>T (p.Gln1484His) c.4641A>T (p.Gln1547His) c.4434A>T (p.Gln1478His) c.1137A>T (p.Gln379His) c.1182A>T (p.Gln394His) c.4638A>T (p.Gln1546His) c.962A>T c.1149A>T (p.Gln383His) c.4358A>T (n.4358A>T) c.888A>T (p.Gln296His) c.5-10480A>T (n.5-10480A>T) c.48A>T (p.Gln16His) c.-98-24241A>T (n.-98-24241A>T) n.4711A>T n.4752A>T
17	g.43074431T>C	CA500146615	BRCA1	c.4572A>G (p.Gln1524=) c.4575A>G (p.Gln1525=) c.4449A>G (p.Gln1483=) c.4569A>G (p.Gln1523=) c.4497A>G (p.Gln1499=) c.1263A>G (p.Gln421=) c.1125A>G (p.Gln375=) c.3687A>G (p.Gln1229=) c.4452A>G (p.Gln1484=) c.4641A>G (p.Gln1547=) c.4434A>G (p.Gln1478=) c.1137A>G (p.Gln379=) c.1182A>G (p.Gln394=) c.4638A>G (p.Gln1546=) c.962A>G c.1149A>G (p.Gln383=) c.4358A>G (n.4358A>G) c.888A>G (p.Gln296=) c.5-10480A>G (n.5-10480A>G) c.48A>G (p.Gln16=) c.-98-24241A>G (n.-98-24241A>G) n.4711A>G n.4752A>G
17	g.43074431T>G	CA10592365	BRCA1	c.4572A>C (p.Gln1524His) c.4575A>C (p.Gln1525His) c.4449A>C (p.Gln1483His) c.4569A>C (p.Gln1523His) c.4497A>C (p.Gln1499His) c.1263A>C (p.Gln421His) c.1125A>C (p.Gln375His) c.3687A>C (p.Gln1229His) c.4452A>C (p.Gln1484His) c.4641A>C (p.Gln1547His) c.4434A>C (p.Gln1478His) c.1137A>C (p.Gln379His) c.1182A>C (p.Gln394His) c.4638A>C (p.Gln1546His) c.962A>C c.1149A>C (p.Gln383His) c.4358A>C (n.4358A>C) c.888A>C (p.Gln296His) c.5-10480A>C (n.5-10480A>C) c.48A>C (p.Gln16His) c.-98-24241A>C (n.-98-24241A>C) n.4711A>C n.4752A>C
17	g.43074431_43074432del	CA002907	BRCA1	c.4571_4572del (p.Gln1524ArgfsTer5) c.4574_4575del (p.Gln1525ArgfsTer5) c.4448_4449del (p.Gln1483ArgfsTer5) c.4568_4569del (p.Gln1523ArgfsTer5) c.4496_4497del (p.Gln1499ArgfsTer5) c.1262_1263del (p.Gln421ArgfsTer5) c.1124_1125del (p.Gln375ArgfsTer5) c.3686_3687del (p.Gln1229ArgfsTer5) c.4451_4452del (p.Gln1484ArgfsTer5) c.4640_4641del (p.Gln1547ArgfsTer5) c.4433_4434del (p.Gln1478ArgfsTer5) c.1136_1137del (p.Gln379ArgfsTer5) c.1181_1182del (p.Gln394ArgfsTer5) c.4637_4638del (p.Gln1546ArgfsTer5) c.961_962del c.1148_1149del (p.Gln383ArgfsTer5) c.4357_4358del (n.4357_4358del) c.887_888del (p.Gln296ArgfsTer5) c.5-10481_5-10480del (n.5-10481_5-10480del) c.47_48del (p.Gln16ArgfsTer5) c.-98-24242_-98-24241del (n.-98-24242_-98-24241del) n.4710_4711del n.4751_4752del	ClinVar dbSNP gnomAD v4
17	g.43074432T>A	CA10592366	BRCA1	c.4571A>T (p.Gln1524Leu) c.4574A>T (p.Gln1525Leu) c.4448A>T (p.Gln1483Leu) c.4568A>T (p.Gln1523Leu) c.4496A>T (p.Gln1499Leu) c.1262A>T (p.Gln421Leu) c.1124A>T (p.Gln375Leu) c.3686A>T (p.Gln1229Leu) c.4451A>T (p.Gln1484Leu) c.4640A>T (p.Gln1547Leu) c.4433A>T (p.Gln1478Leu) c.1136A>T (p.Gln379Leu) c.1181A>T (p.Gln394Leu) c.4637A>T (p.Gln1546Leu) c.961A>T c.1148A>T (p.Gln383Leu) c.4357A>T (n.4357A>T) c.887A>T (p.Gln296Leu) c.5-10481A>T (n.5-10481A>T) c.47A>T (p.Gln16Leu) c.-98-24242A>T (n.-98-24242A>T) n.4710A>T n.4751A>T
17	g.43074432T>C	CA002909	BRCA1	c.4571A>G (p.Gln1524Arg) c.4574A>G (p.Gln1525Arg) c.4448A>G (p.Gln1483Arg) c.4568A>G (p.Gln1523Arg) c.4496A>G (p.Gln1499Arg) c.1262A>G (p.Gln421Arg) c.1124A>G (p.Gln375Arg) c.3686A>G (p.Gln1229Arg) c.4451A>G (p.Gln1484Arg) c.4640A>G (p.Gln1547Arg) c.4433A>G (p.Gln1478Arg) c.1136A>G (p.Gln379Arg) c.1181A>G (p.Gln394Arg) c.4637A>G (p.Gln1546Arg) c.961A>G c.1148A>G (p.Gln383Arg) c.4357A>G (n.4357A>G) c.887A>G (p.Gln296Arg) c.5-10481A>G (n.5-10481A>G) c.47A>G (p.Gln16Arg) c.-98-24242A>G (n.-98-24242A>G) n.4710A>G n.4751A>G	ClinVar dbSNP
17	g.43074432T>G	CA10592367	BRCA1	c.4571A>C (p.Gln1524Pro) c.4574A>C (p.Gln1525Pro) c.4448A>C (p.Gln1483Pro) c.4568A>C (p.Gln1523Pro) c.4496A>C (p.Gln1499Pro) c.1262A>C (p.Gln421Pro) c.1124A>C (p.Gln375Pro) c.3686A>C (p.Gln1229Pro) c.4451A>C (p.Gln1484Pro) c.4640A>C (p.Gln1547Pro) c.4433A>C (p.Gln1478Pro) c.1136A>C (p.Gln379Pro) c.1181A>C (p.Gln394Pro) c.4637A>C (p.Gln1546Pro) c.961A>C c.1148A>C (p.Gln383Pro) c.4357A>C (n.4357A>C) c.887A>C (p.Gln296Pro) c.5-10481A>C (n.5-10481A>C) c.47A>C (p.Gln16Pro) c.-98-24242A>C (n.-98-24242A>C) n.4710A>C n.4751A>C	gnomAD v4
17	g.43074432T=	CA2260774508	BRCA1	c.4571A= (p.Gln1524=) c.4574A= (p.Gln1525=) c.4448A= (p.Gln1483=) c.4568A= (p.Gln1523=) c.4496A= (p.Gln1499=) c.1262A= (p.Gln421=) c.1124A= (p.Gln375=) c.3686A= (p.Gln1229=) c.4451A= (p.Gln1484=) c.4640A= (p.Gln1547=) c.4433A= (p.Gln1478=) c.1136A= (p.Gln379=) c.1181A= (p.Gln394=) c.4637A= (p.Gln1546=) c.961A= c.1148A= (p.Gln383=) c.4357A= (n.4357A=) c.887A= (p.Gln296=) c.5-10481A= (n.5-10481A=) c.47A= (p.Gln16=) c.-98-24242A= (n.-98-24242A=) n.4710A= n.4751A=
17	g.43074433G>A	CA10589655	BRCA1	c.4570C>T (p.Gln1524Ter) c.4573C>T (p.Gln1525Ter) c.4447C>T (p.Gln1483Ter) c.4567C>T (p.Gln1523Ter) c.4495C>T (p.Gln1499Ter) c.1261C>T (p.Gln421Ter) c.1123C>T (p.Gln375Ter) c.3685C>T (p.Gln1229Ter) c.4450C>T (p.Gln1484Ter) c.4639C>T (p.Gln1547Ter) c.4432C>T (p.Gln1478Ter) c.1135C>T (p.Gln379Ter) c.1180C>T (p.Gln394Ter) c.4636C>T (p.Gln1546Ter) c.960C>T c.1147C>T (p.Gln383Ter) c.4356C>T (n.4356C>T) c.886C>T (p.Gln296Ter) c.5-10482C>T (n.5-10482C>T) c.46C>T (p.Gln16Ter) c.-98-24243C>T (n.-98-24243C>T) n.4709C>T n.4750C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.43074433G>C	CA10592368	BRCA1	c.4570C>G (p.Gln1524Glu) c.4573C>G (p.Gln1525Glu) c.4447C>G (p.Gln1483Glu) c.4567C>G (p.Gln1523Glu) c.4495C>G (p.Gln1499Glu) c.1261C>G (p.Gln421Glu) c.1123C>G (p.Gln375Glu) c.3685C>G (p.Gln1229Glu) c.4450C>G (p.Gln1484Glu) c.4639C>G (p.Gln1547Glu) c.4432C>G (p.Gln1478Glu) c.1135C>G (p.Gln379Glu) c.1180C>G (p.Gln394Glu) c.4636C>G (p.Gln1546Glu) c.960C>G c.1147C>G (p.Gln383Glu) c.4356C>G (n.4356C>G) c.886C>G (p.Gln296Glu) c.5-10482C>G (n.5-10482C>G) c.46C>G (p.Gln16Glu) c.-98-24243C>G (n.-98-24243C>G) n.4709C>G n.4750C>G	dbSNP
17	g.43074433G=	CA2260774509	BRCA1	c.4570C= (p.Gln1524=) c.4573C= (p.Gln1525=) c.4447C= (p.Gln1483=) c.4567C= (p.Gln1523=) c.4495C= (p.Gln1499=) c.1261C= (p.Gln421=) c.1123C= (p.Gln375=) c.3685C= (p.Gln1229=) c.4450C= (p.Gln1484=) c.4639C= (p.Gln1547=) c.4432C= (p.Gln1478=) c.1135C= (p.Gln379=) c.1180C= (p.Gln394=) c.4636C= (p.Gln1546=) c.960C= c.1147C= (p.Gln383=) c.4356C= (n.4356C=) c.886C= (p.Gln296=) c.5-10482C= (n.5-10482C=) c.46C= (p.Gln16=) c.-98-24243C= (n.-98-24243C=) n.4709C= n.4750C=
17	g.43074433G>T	CA10592369	BRCA1	c.4570C>A (p.Gln1524Lys) c.4573C>A (p.Gln1525Lys) c.4447C>A (p.Gln1483Lys) c.4567C>A (p.Gln1523Lys) c.4495C>A (p.Gln1499Lys) c.1261C>A (p.Gln421Lys) c.1123C>A (p.Gln375Lys) c.3685C>A (p.Gln1229Lys) c.4450C>A (p.Gln1484Lys) c.4639C>A (p.Gln1547Lys) c.4432C>A (p.Gln1478Lys) c.1135C>A (p.Gln379Lys) c.1180C>A (p.Gln394Lys) c.4636C>A (p.Gln1546Lys) c.960C>A c.1147C>A (p.Gln383Lys) c.4356C>A (n.4356C>A) c.886C>A (p.Gln296Lys) c.5-10482C>A (n.5-10482C>A) c.46C>A (p.Gln16Lys) c.-98-24243C>A (n.-98-24243C>A) n.4709C>A n.4750C>A
17	g.43074433_43074436del	CA658761214	BRCA1	c.4567_4570del (p.Ser1523LysfsTer23) c.4570_4573del (p.Ser1524LysfsTer23) c.4444_4447del (p.Ser1482LysfsTer23) c.4564_4567del (p.Ser1522LysfsTer23) c.4492_4495del (p.Ser1498LysfsTer23) c.1258_1261del (p.Ser420LysfsTer23) c.1120_1123del (p.Ser374LysfsTer23) c.3682_3685del (p.Ser1228LysfsTer23) c.4447_4450del (p.Ser1483LysfsTer23) c.4636_4639del (p.Ser1546LysfsTer23) c.4429_4432del (p.Ser1477LysfsTer23) c.1132_1135del (p.Ser378LysfsTer23) c.1177_1180del (p.Ser393LysfsTer23) c.4633_4636del (p.Ser1545LysfsTer23) c.957_960del c.1144_1147del (p.Ser382LysfsTer23) c.4353_4356del (n.4353_4356del) c.883_886del (p.Ser295LysfsTer23) c.5-10485_5-10482del (n.5-10485_5-10482del) c.43_46del (p.Ser15LysfsTer23) c.-98-24246_-98-24243del (n.-98-24246_-98-24243del) n.4706_4709del n.4747_4750del
17	g.43074433_43074437delinsA	CA2695225915	BRCA1	c.4566_4570delinsT (p.Ser1523LysfsTer23) c.4569_4573delinsT (p.Ser1524LysfsTer23) c.4443_4447delinsT (p.Ser1482LysfsTer23) c.4563_4567delinsT (p.Ser1522LysfsTer23) c.4491_4495delinsT (p.Ser1498LysfsTer23) c.1257_1261delinsT (p.Ser420LysfsTer23) c.1119_1123delinsT (p.Ser374LysfsTer23) c.3681_3685delinsT (p.Ser1228LysfsTer23) c.4446_4450delinsT (p.Ser1483LysfsTer23) c.4635_4639delinsT (p.Ser1546LysfsTer23) c.4428_4432delinsT (p.Ser1477LysfsTer23) c.1131_1135delinsT (p.Ser378LysfsTer23) c.1176_1180delinsT (p.Ser393LysfsTer23) c.4632_4636delinsT (p.Ser1545LysfsTer23) c.956_960delinsT c.1143_1147delinsT (p.Ser382LysfsTer23) c.4352_4356delinsT (n.4352_4356delinsT) c.882_886delinsT (p.Ser295LysfsTer23) c.5-10486_5-10482delinsT (n.5-10486_5-10482delinsT) c.42_46delinsT (p.Ser15LysfsTer23) c.-98-24247_-98-24243delinsT (n.-98-24247_-98-24243delinsT) n.4705_4709delinsT n.4746_4750delinsT
17	g.43074433_43074437delinsGAGAT	CA2260774510	BRCA1	c.4566_4570delinsATCTC (p.Pro1522=) c.4569_4573delinsATCTC (p.Pro1523=) c.4443_4447delinsATCTC (p.Pro1481=) c.4563_4567delinsATCTC (p.Pro1521=) c.4491_4495delinsATCTC (p.Pro1497=) c.1257_1261delinsATCTC (p.Pro419=) c.1119_1123delinsATCTC (p.Pro373=) c.3681_3685delinsATCTC (p.Pro1227=) c.4446_4450delinsATCTC (p.Pro1482=) c.4635_4639delinsATCTC (p.Pro1545=) c.4428_4432delinsATCTC (p.Pro1476=) c.1131_1135delinsATCTC (p.Pro377=) c.1176_1180delinsATCTC (p.Pro392=) c.4632_4636delinsATCTC (p.Pro1544=) c.956_960delinsATCTC c.1143_1147delinsATCTC (p.Pro381=) c.4352_4356delinsATCTC (n.4352_4356delinsATCTC) c.882_886delinsATCTC (p.Pro294=) c.5-10486_5-10482delinsATCTC (n.5-10486_5-10482delinsATCTC) c.42_46delinsATCTC (p.Pro14=) c.-98-24247_-98-24243delinsATCTC (n.-98-24247_-98-24243delinsATCTC) n.4705_4709delinsATCTC n.4746_4750delinsATCTC
17	g.43074434A=	CA2260774511	BRCA1	c.4569T= (p.Ser1523=) c.4572T= (p.Ser1524=) c.4446T= (p.Ser1482=) c.4566T= (p.Ser1522=) c.4494T= (p.Ser1498=) c.1260T= (p.Ser420=) c.1122T= (p.Ser374=) c.3684T= (p.Ser1228=) c.4449T= (p.Ser1483=) c.4638T= (p.Ser1546=) c.4431T= (p.Ser1477=) c.1134T= (p.Ser378=) c.1179T= (p.Ser393=) c.4635T= (p.Ser1545=) c.959T= c.1146T= (p.Ser382=) c.4355T= (n.4355T=) c.885T= (p.Ser295=) c.5-10483T= (n.5-10483T=) c.45T= (p.Ser15=) c.-98-24244T= (n.-98-24244T=) n.4708T= n.4749T=
17	g.43074434A>C	CA500146618	BRCA1	c.4569T>G (p.Ser1523=) c.4572T>G (p.Ser1524=) c.4446T>G (p.Ser1482=) c.4566T>G (p.Ser1522=) c.4494T>G (p.Ser1498=) c.1260T>G (p.Ser420=) c.1122T>G (p.Ser374=) c.3684T>G (p.Ser1228=) c.4449T>G (p.Ser1483=) c.4638T>G (p.Ser1546=) c.4431T>G (p.Ser1477=) c.1134T>G (p.Ser378=) c.1179T>G (p.Ser393=) c.4635T>G (p.Ser1545=) c.959T>G c.1146T>G (p.Ser382=) c.4355T>G (n.4355T>G) c.885T>G (p.Ser295=) c.5-10483T>G (n.5-10483T>G) c.45T>G (p.Ser15=) c.-98-24244T>G (n.-98-24244T>G) n.4708T>G n.4749T>G
17	g.43074434A>G	CA500146616	BRCA1	c.4569T>C (p.Ser1523=) c.4572T>C (p.Ser1524=) c.4446T>C (p.Ser1482=) c.4566T>C (p.Ser1522=) c.4494T>C (p.Ser1498=) c.1260T>C (p.Ser420=) c.1122T>C (p.Ser374=) c.3684T>C (p.Ser1228=) c.4449T>C (p.Ser1483=) c.4638T>C (p.Ser1546=) c.4431T>C (p.Ser1477=) c.1134T>C (p.Ser378=) c.1179T>C (p.Ser393=) c.4635T>C (p.Ser1545=) c.959T>C c.1146T>C (p.Ser382=) c.4355T>C (n.4355T>C) c.885T>C (p.Ser295=) c.5-10483T>C (n.5-10483T>C) c.45T>C (p.Ser15=) c.-98-24244T>C (n.-98-24244T>C) n.4708T>C n.4749T>C
17	g.43074434A>T	CA500146617	BRCA1	c.4569T>A (p.Ser1523=) c.4572T>A (p.Ser1524=) c.4446T>A (p.Ser1482=) c.4566T>A (p.Ser1522=) c.4494T>A (p.Ser1498=) c.1260T>A (p.Ser420=) c.1122T>A (p.Ser374=) c.3684T>A (p.Ser1228=) c.4449T>A (p.Ser1483=) c.4638T>A (p.Ser1546=) c.4431T>A (p.Ser1477=) c.1134T>A (p.Ser378=) c.1179T>A (p.Ser393=) c.4635T>A (p.Ser1545=) c.959T>A c.1146T>A (p.Ser382=) c.4355T>A (n.4355T>A) c.885T>A (p.Ser295=) c.5-10483T>A (n.5-10483T>A) c.45T>A (p.Ser15=) c.-98-24244T>A (n.-98-24244T>A) n.4708T>A n.4749T>A	dbSNP COSMIC COSMIC
17	g.43074434_43074437del	CA10589656	BRCA1	c.4566_4569del (p.Ser1523LysfsTer23) c.4569_4572del (p.Ser1524LysfsTer23) c.4443_4446del (p.Ser1482LysfsTer23) c.4563_4566del (p.Ser1522LysfsTer23) c.4491_4494del (p.Ser1498LysfsTer23) c.1257_1260del (p.Ser420LysfsTer23) c.1119_1122del (p.Ser374LysfsTer23) c.3681_3684del (p.Ser1228LysfsTer23) c.4446_4449del (p.Ser1483LysfsTer23) c.4635_4638del (p.Ser1546LysfsTer23) c.4428_4431del (p.Ser1477LysfsTer23) c.1131_1134del (p.Ser378LysfsTer23) c.1176_1179del (p.Ser393LysfsTer23) c.4632_4635del (p.Ser1545LysfsTer23) c.956_959del c.1143_1146del (p.Ser382LysfsTer23) c.4352_4355del (n.4352_4355del) c.882_885del (p.Ser295LysfsTer23) c.5-10486_5-10483del (n.5-10486_5-10483del) c.42_45del (p.Ser15LysfsTer23) c.-98-24247_-98-24244del (n.-98-24247_-98-24244del) n.4705_4708del n.4746_4749del	ClinVar dbSNP
17	g.43074435G>A	CA10592370	BRCA1	c.4568C>T (p.Ser1523Phe) c.4571C>T (p.Ser1524Phe) c.4445C>T (p.Ser1482Phe) c.4565C>T (p.Ser1522Phe) c.4493C>T (p.Ser1498Phe) c.1259C>T (p.Ser420Phe) c.1121C>T (p.Ser374Phe) c.3683C>T (p.Ser1228Phe) c.4448C>T (p.Ser1483Phe) c.4637C>T (p.Ser1546Phe) c.4430C>T (p.Ser1477Phe) c.1133C>T (p.Ser378Phe) c.1178C>T (p.Ser393Phe) c.4634C>T (p.Ser1545Phe) c.958C>T c.1145C>T (p.Ser382Phe) c.4354C>T (n.4354C>T) c.884C>T (p.Ser295Phe) c.5-10484C>T (n.5-10484C>T) c.44C>T (p.Ser15Phe) c.-98-24245C>T (n.-98-24245C>T) n.4707C>T n.4748C>T	dbSNP
17	g.43074435G>C	CA10592371	BRCA1	c.4568C>G (p.Ser1523Cys) c.4571C>G (p.Ser1524Cys) c.4445C>G (p.Ser1482Cys) c.4565C>G (p.Ser1522Cys) c.4493C>G (p.Ser1498Cys) c.1259C>G (p.Ser420Cys) c.1121C>G (p.Ser374Cys) c.3683C>G (p.Ser1228Cys) c.4448C>G (p.Ser1483Cys) c.4637C>G (p.Ser1546Cys) c.4430C>G (p.Ser1477Cys) c.1133C>G (p.Ser378Cys) c.1178C>G (p.Ser393Cys) c.4634C>G (p.Ser1545Cys) c.958C>G c.1145C>G (p.Ser382Cys) c.4354C>G (n.4354C>G) c.884C>G (p.Ser295Cys) c.5-10484C>G (n.5-10484C>G) c.44C>G (p.Ser15Cys) c.-98-24245C>G (n.-98-24245C>G) n.4707C>G n.4748C>G	ClinVar dbSNP
17	g.43074435G=	CA2260774513	BRCA1	c.4568C= (p.Ser1523=) c.4571C= (p.Ser1524=) c.4445C= (p.Ser1482=) c.4565C= (p.Ser1522=) c.4493C= (p.Ser1498=) c.1259C= (p.Ser420=) c.1121C= (p.Ser374=) c.3683C= (p.Ser1228=) c.4448C= (p.Ser1483=) c.4637C= (p.Ser1546=) c.4430C= (p.Ser1477=) c.1133C= (p.Ser378=) c.1178C= (p.Ser393=) c.4634C= (p.Ser1545=) c.958C= c.1145C= (p.Ser382=) c.4354C= (n.4354C=) c.884C= (p.Ser295=) c.5-10484C= (n.5-10484C=) c.44C= (p.Ser15=) c.-98-24245C= (n.-98-24245C=) n.4707C= n.4748C=
17	g.43074435G>T	CA10592372	BRCA1	c.4568C>A (p.Ser1523Tyr) c.4571C>A (p.Ser1524Tyr) c.4445C>A (p.Ser1482Tyr) c.4565C>A (p.Ser1522Tyr) c.4493C>A (p.Ser1498Tyr) c.1259C>A (p.Ser420Tyr) c.1121C>A (p.Ser374Tyr) c.3683C>A (p.Ser1228Tyr) c.4448C>A (p.Ser1483Tyr) c.4637C>A (p.Ser1546Tyr) c.4430C>A (p.Ser1477Tyr) c.1133C>A (p.Ser378Tyr) c.1178C>A (p.Ser393Tyr) c.4634C>A (p.Ser1545Tyr) c.958C>A c.1145C>A (p.Ser382Tyr) c.4354C>A (n.4354C>A) c.884C>A (p.Ser295Tyr) c.5-10484C>A (n.5-10484C>A) c.44C>A (p.Ser15Tyr) c.-98-24245C>A (n.-98-24245C>A) n.4707C>A n.4748C>A
17	g.43074435_43074436insGG	CA658825015	BRCA1	c.4568_4569insCC (p.Gln1524LeufsTer24) c.4571_4572insCC (p.Gln1525LeufsTer24) c.4445_4446insCC (p.Gln1483LeufsTer24) c.4565_4566insCC (p.Gln1523LeufsTer24) c.4493_4494insCC (p.Gln1499LeufsTer24) c.1259_1260insCC (p.Gln421LeufsTer24) c.1121_1122insCC (p.Gln375LeufsTer24) c.3683_3684insCC (p.Gln1229LeufsTer24) c.4448_4449insCC (p.Gln1484LeufsTer24) c.4637_4638insCC (p.Gln1547LeufsTer24) c.4430_4431insCC (p.Gln1478LeufsTer24) c.1133_1134insCC (p.Gln379LeufsTer24) c.1178_1179insCC (p.Gln394LeufsTer24) c.4634_4635insCC (p.Gln1546LeufsTer24) c.958_959insCC c.1145_1146insCC (p.Gln383LeufsTer24) c.4354_4355insCC (n.4354_4355insCC) c.884_885insCC (p.Gln296LeufsTer24) c.5-10484_5-10483insCC (n.5-10484_5-10483insCC) c.44_45insCC (p.Gln16LeufsTer24) c.-98-24245_-98-24244insCC (n.-98-24245_-98-24244insCC) n.4707_4708insCC n.4748_4749insCC	ClinVar dbSNP
17	g.43074435_43074436delinsGA	CA2260774512	BRCA1	c.4567_4568delinsTC (p.Ser1523=) c.4570_4571delinsTC (p.Ser1524=) c.4444_4445delinsTC (p.Ser1482=) c.4564_4565delinsTC (p.Ser1522=) c.4492_4493delinsTC (p.Ser1498=) c.1258_1259delinsTC (p.Ser420=) c.1120_1121delinsTC (p.Ser374=) c.3682_3683delinsTC (p.Ser1228=) c.4447_4448delinsTC (p.Ser1483=) c.4636_4637delinsTC (p.Ser1546=) c.4429_4430delinsTC (p.Ser1477=) c.1132_1133delinsTC (p.Ser378=) c.1177_1178delinsTC (p.Ser393=) c.4633_4634delinsTC (p.Ser1545=) c.957_958delinsTC c.1144_1145delinsTC (p.Ser382=) c.4353_4354delinsTC (n.4353_4354delinsTC) c.883_884delinsTC (p.Ser295=) c.5-10485_5-10484delinsTC (n.5-10485_5-10484delinsTC) c.43_44delinsTC (p.Ser15=) c.-98-24246_-98-24245delinsTC (n.-98-24246_-98-24245delinsTC) n.4706_4707delinsTC n.4747_4748delinsTC
17	g.43074436del	CA10581599	BRCA1	c.4567del (p.Ser1523LeufsTer24) c.4570del (p.Ser1524LeufsTer24) c.4444del (p.Ser1482LeufsTer24) c.4564del (p.Ser1522LeufsTer24) c.4492del (p.Ser1498LeufsTer24) c.1258del (p.Ser420LeufsTer24) c.1120del (p.Ser374LeufsTer24) c.3682del (p.Ser1228LeufsTer24) c.4447del (p.Ser1483LeufsTer24) c.4636del (p.Ser1546LeufsTer24) c.4429del (p.Ser1477LeufsTer24) c.1132del (p.Ser378LeufsTer24) c.1177del (p.Ser393LeufsTer24) c.4633del (p.Ser1545LeufsTer24) c.957del c.1144del (p.Ser382LeufsTer24) c.4353del (n.4353del) c.883del (p.Ser295LeufsTer24) c.5-10485del (n.5-10485del) c.43del (p.Ser15LeufsTer24) c.-98-24246del (n.-98-24246del) n.4706del n.4747del	ClinVar dbSNP
17	g.43074436A=	CA2260774514	BRCA1	c.4567T= (p.Ser1523=) c.4570T= (p.Ser1524=) c.4444T= (p.Ser1482=) c.4564T= (p.Ser1522=) c.4492T= (p.Ser1498=) c.1258T= (p.Ser420=) c.1120T= (p.Ser374=) c.3682T= (p.Ser1228=) c.4447T= (p.Ser1483=) c.4636T= (p.Ser1546=) c.4429T= (p.Ser1477=) c.1132T= (p.Ser378=) c.1177T= (p.Ser393=) c.4633T= (p.Ser1545=) c.957T= c.1144T= (p.Ser382=) c.4353T= (n.4353T=) c.883T= (p.Ser295=) c.5-10485T= (n.5-10485T=) c.43T= (p.Ser15=) c.-98-24246T= (n.-98-24246T=) n.4706T= n.4747T=
17	g.43074436A>C	CA10592373	BRCA1	c.4567T>G (p.Ser1523Ala) c.4570T>G (p.Ser1524Ala) c.4444T>G (p.Ser1482Ala) c.4564T>G (p.Ser1522Ala) c.4492T>G (p.Ser1498Ala) c.1258T>G (p.Ser420Ala) c.1120T>G (p.Ser374Ala) c.3682T>G (p.Ser1228Ala) c.4447T>G (p.Ser1483Ala) c.4636T>G (p.Ser1546Ala) c.4429T>G (p.Ser1477Ala) c.1132T>G (p.Ser378Ala) c.1177T>G (p.Ser393Ala) c.4633T>G (p.Ser1545Ala) c.957T>G c.1144T>G (p.Ser382Ala) c.4353T>G (n.4353T>G) c.883T>G (p.Ser295Ala) c.5-10485T>G (n.5-10485T>G) c.43T>G (p.Ser15Ala) c.-98-24246T>G (n.-98-24246T>G) n.4706T>G n.4747T>G
17	g.43074436A>G	CA10592374	BRCA1	c.4567T>C (p.Ser1523Pro) c.4570T>C (p.Ser1524Pro) c.4444T>C (p.Ser1482Pro) c.4564T>C (p.Ser1522Pro) c.4492T>C (p.Ser1498Pro) c.1258T>C (p.Ser420Pro) c.1120T>C (p.Ser374Pro) c.3682T>C (p.Ser1228Pro) c.4447T>C (p.Ser1483Pro) c.4636T>C (p.Ser1546Pro) c.4429T>C (p.Ser1477Pro) c.1132T>C (p.Ser378Pro) c.1177T>C (p.Ser393Pro) c.4633T>C (p.Ser1545Pro) c.957T>C c.1144T>C (p.Ser382Pro) c.4353T>C (n.4353T>C) c.883T>C (p.Ser295Pro) c.5-10485T>C (n.5-10485T>C) c.43T>C (p.Ser15Pro) c.-98-24246T>C (n.-98-24246T>C) n.4706T>C n.4747T>C
17	g.43074436A>T	CA10592375	BRCA1	c.4567T>A (p.Ser1523Thr) c.4570T>A (p.Ser1524Thr) c.4444T>A (p.Ser1482Thr) c.4564T>A (p.Ser1522Thr) c.4492T>A (p.Ser1498Thr) c.1258T>A (p.Ser420Thr) c.1120T>A (p.Ser374Thr) c.3682T>A (p.Ser1228Thr) c.4447T>A (p.Ser1483Thr) c.4636T>A (p.Ser1546Thr) c.4429T>A (p.Ser1477Thr) c.1132T>A (p.Ser378Thr) c.1177T>A (p.Ser393Thr) c.4633T>A (p.Ser1545Thr) c.957T>A c.1144T>A (p.Ser382Thr) c.4353T>A (n.4353T>A) c.883T>A (p.Ser295Thr) c.5-10485T>A (n.5-10485T>A) c.43T>A (p.Ser15Thr) c.-98-24246T>A (n.-98-24246T>A) n.4706T>A n.4747T>A	dbSNP
17	g.43074436_43074437insGG	CA10589657	BRCA1	c.4566_4567insCC (p.Ser1523ProfsTer25) c.4569_4570insCC (p.Ser1524ProfsTer25) c.4443_4444insCC (p.Ser1482ProfsTer25) c.4563_4564insCC (p.Ser1522ProfsTer25) c.4491_4492insCC (p.Ser1498ProfsTer25) c.1257_1258insCC (p.Ser420ProfsTer25) c.1119_1120insCC (p.Ser374ProfsTer25) c.3681_3682insCC (p.Ser1228ProfsTer25) c.4446_4447insCC (p.Ser1483ProfsTer25) c.4635_4636insCC (p.Ser1546ProfsTer25) c.4428_4429insCC (p.Ser1477ProfsTer25) c.1131_1132insCC (p.Ser378ProfsTer25) c.1176_1177insCC (p.Ser393ProfsTer25) c.4632_4633insCC (p.Ser1545ProfsTer25) c.956_957insCC c.1143_1144insCC (p.Ser382ProfsTer25) c.4352_4353insCC (n.4352_4353insCC) c.882_883insCC (p.Ser295ProfsTer25) c.5-10486_5-10485insCC (n.5-10486_5-10485insCC) c.42_43insCC (p.Ser15ProfsTer25) c.-98-24247_-98-24246insCC (n.-98-24247_-98-24246insCC) n.4705_4706insCC n.4746_4747insCC	ClinVar dbSNP
17	g.43074437T>A	CA500146621	BRCA1	c.4566A>T (p.Pro1522=) c.4569A>T (p.Pro1523=) c.4443A>T (p.Pro1481=) c.4563A>T (p.Pro1521=) c.4491A>T (p.Pro1497=) c.1257A>T (p.Pro419=) c.1119A>T (p.Pro373=) c.3681A>T (p.Pro1227=) c.4446A>T (p.Pro1482=) c.4635A>T (p.Pro1545=) c.4428A>T (p.Pro1476=) c.1131A>T (p.Pro377=) c.1176A>T (p.Pro392=) c.4632A>T (p.Pro1544=) c.956A>T c.1143A>T (p.Pro381=) c.4352A>T (n.4352A>T) c.882A>T (p.Pro294=) c.5-10486A>T (n.5-10486A>T) c.42A>T (p.Pro14=) c.-98-24247A>T (n.-98-24247A>T) n.4705A>T n.4746A>T
17	g.43074437T>C	CA500146619	BRCA1	c.4566A>G (p.Pro1522=) c.4569A>G (p.Pro1523=) c.4443A>G (p.Pro1481=) c.4563A>G (p.Pro1521=) c.4491A>G (p.Pro1497=) c.1257A>G (p.Pro419=) c.1119A>G (p.Pro373=) c.3681A>G (p.Pro1227=) c.4446A>G (p.Pro1482=) c.4635A>G (p.Pro1545=) c.4428A>G (p.Pro1476=) c.1131A>G (p.Pro377=) c.1176A>G (p.Pro392=) c.4632A>G (p.Pro1544=) c.956A>G c.1143A>G (p.Pro381=) c.4352A>G (n.4352A>G) c.882A>G (p.Pro294=) c.5-10486A>G (n.5-10486A>G) c.42A>G (p.Pro14=) c.-98-24247A>G (n.-98-24247A>G) n.4705A>G n.4746A>G	ClinVar
17	g.43074437T>G	CA500146620	BRCA1	c.4566A>C (p.Pro1522=) c.4569A>C (p.Pro1523=) c.4443A>C (p.Pro1481=) c.4563A>C (p.Pro1521=) c.4491A>C (p.Pro1497=) c.1257A>C (p.Pro419=) c.1119A>C (p.Pro373=) c.3681A>C (p.Pro1227=) c.4446A>C (p.Pro1482=) c.4635A>C (p.Pro1545=) c.4428A>C (p.Pro1476=) c.1131A>C (p.Pro377=) c.1176A>C (p.Pro392=) c.4632A>C (p.Pro1544=) c.956A>C c.1143A>C (p.Pro381=) c.4352A>C (n.4352A>C) c.882A>C (p.Pro294=) c.5-10486A>C (n.5-10486A>C) c.42A>C (p.Pro14=) c.-98-24247A>C (n.-98-24247A>C) n.4705A>C n.4746A>C
17	g.43074437_43074438delinsTG	CA2260774515	BRCA1	c.4565_4566delinsCA (p.Pro1522=) c.4568_4569delinsCA (p.Pro1523=) c.4442_4443delinsCA (p.Pro1481=) c.4562_4563delinsCA (p.Pro1521=) c.4490_4491delinsCA (p.Pro1497=) c.1256_1257delinsCA (p.Pro419=) c.1118_1119delinsCA (p.Pro373=) c.3680_3681delinsCA (p.Pro1227=) c.4445_4446delinsCA (p.Pro1482=) c.4634_4635delinsCA (p.Pro1545=) c.4427_4428delinsCA (p.Pro1476=) c.1130_1131delinsCA (p.Pro377=) c.1175_1176delinsCA (p.Pro392=) c.4631_4632delinsCA (p.Pro1544=) c.955_956delinsCA c.1142_1143delinsCA (p.Pro381=) c.4351_4352delinsCA (n.4351_4352delinsCA) c.881_882delinsCA (p.Pro294=) c.5-10487_5-10486delinsCA (n.5-10487_5-10486delinsCA) c.41_42delinsCA (p.Pro14=) c.-98-24248_-98-24247delinsCA (n.-98-24248_-98-24247delinsCA) n.4704_4705delinsCA n.4745_4746delinsCA
17	g.43074438G>A	CA10592376	BRCA1	c.4565C>T (p.Pro1522Leu) c.4568C>T (p.Pro1523Leu) c.4442C>T (p.Pro1481Leu) c.4562C>T (p.Pro1521Leu) c.4490C>T (p.Pro1497Leu) c.1256C>T (p.Pro419Leu) c.1118C>T (p.Pro373Leu) c.3680C>T (p.Pro1227Leu) c.4445C>T (p.Pro1482Leu) c.4634C>T (p.Pro1545Leu) c.4427C>T (p.Pro1476Leu) c.1130C>T (p.Pro377Leu) c.1175C>T (p.Pro392Leu) c.4631C>T (p.Pro1544Leu) c.955C>T c.1142C>T (p.Pro381Leu) c.4351C>T (n.4351C>T) c.881C>T (p.Pro294Leu) c.5-10487C>T (n.5-10487C>T) c.41C>T (p.Pro14Leu) c.-98-24248C>T (n.-98-24248C>T) n.4704C>T n.4745C>T	ClinVar dbSNP gnomAD v4
17	g.43074438G>C	CA10592377	BRCA1	c.4565C>G (p.Pro1522Arg) c.4568C>G (p.Pro1523Arg) c.4442C>G (p.Pro1481Arg) c.4562C>G (p.Pro1521Arg) c.4490C>G (p.Pro1497Arg) c.1256C>G (p.Pro419Arg) c.1118C>G (p.Pro373Arg) c.3680C>G (p.Pro1227Arg) c.4445C>G (p.Pro1482Arg) c.4634C>G (p.Pro1545Arg) c.4427C>G (p.Pro1476Arg) c.1130C>G (p.Pro377Arg) c.1175C>G (p.Pro392Arg) c.4631C>G (p.Pro1544Arg) c.955C>G c.1142C>G (p.Pro381Arg) c.4351C>G (n.4351C>G) c.881C>G (p.Pro294Arg) c.5-10487C>G (n.5-10487C>G) c.41C>G (p.Pro14Arg) c.-98-24248C>G (n.-98-24248C>G) n.4704C>G n.4745C>G	dbSNP
17	g.43074438G=	CA2260774516	BRCA1	c.4565C= (p.Pro1522=) c.4568C= (p.Pro1523=) c.4442C= (p.Pro1481=) c.4562C= (p.Pro1521=) c.4490C= (p.Pro1497=) c.1256C= (p.Pro419=) c.1118C= (p.Pro373=) c.3680C= (p.Pro1227=) c.4445C= (p.Pro1482=) c.4634C= (p.Pro1545=) c.4427C= (p.Pro1476=) c.1130C= (p.Pro377=) c.1175C= (p.Pro392=) c.4631C= (p.Pro1544=) c.955C= c.1142C= (p.Pro381=) c.4351C= (n.4351C=) c.881C= (p.Pro294=) c.5-10487C= (n.5-10487C=) c.41C= (p.Pro14=) c.-98-24248C= (n.-98-24248C=) n.4704C= n.4745C=
17	g.43074438G>T	CA10592378	BRCA1	c.4565C>A (p.Pro1522Gln) c.4568C>A (p.Pro1523Gln) c.4442C>A (p.Pro1481Gln) c.4562C>A (p.Pro1521Gln) c.4490C>A (p.Pro1497Gln) c.1256C>A (p.Pro419Gln) c.1118C>A (p.Pro373Gln) c.3680C>A (p.Pro1227Gln) c.4445C>A (p.Pro1482Gln) c.4634C>A (p.Pro1545Gln) c.4427C>A (p.Pro1476Gln) c.1130C>A (p.Pro377Gln) c.1175C>A (p.Pro392Gln) c.4631C>A (p.Pro1544Gln) c.955C>A c.1142C>A (p.Pro381Gln) c.4351C>A (n.4351C>A) c.881C>A (p.Pro294Gln) c.5-10487C>A (n.5-10487C>A) c.41C>A (p.Pro14Gln) c.-98-24248C>A (n.-98-24248C>A) n.4704C>A n.4745C>A
17	g.43074439_43074440dup	CA2697559973	BRCA1	c.4564_4565dup (p.Ser1523HisfsTer25) c.4567_4568dup (p.Ser1524HisfsTer25) c.4441_4442dup (p.Ser1482HisfsTer25) c.4561_4562dup (p.Ser1522HisfsTer25) c.4489_4490dup (p.Ser1498HisfsTer25) c.1255_1256dup (p.Ser420HisfsTer25) c.1117_1118dup (p.Ser374HisfsTer25) c.3679_3680dup (p.Ser1228HisfsTer25) c.4444_4445dup (p.Ser1483HisfsTer25) c.4633_4634dup (p.Ser1546HisfsTer25) c.4426_4427dup (p.Ser1477HisfsTer25) c.1129_1130dup (p.Ser378HisfsTer25) c.1174_1175dup (p.Ser393HisfsTer25) c.4630_4631dup (p.Ser1545HisfsTer25) c.954_955dup c.1141_1142dup (p.Ser382HisfsTer25) c.4350_4351dup (n.4350_4351dup) c.880_881dup (p.Ser295HisfsTer25) c.5-10488_5-10487dup (n.5-10488_5-10487dup) c.40_41dup (p.Ser15HisfsTer25) c.-98-24249_-98-24248dup (n.-98-24249_-98-24248dup) n.4703_4704dup n.4744_4745dup	ClinVar
17	g.43074440del	CA891844422	BRCA1	c.4565del (p.Pro1522HisfsTer25) c.4568del (p.Pro1523HisfsTer25) c.4442del (p.Pro1481HisfsTer25) c.4562del (p.Pro1521HisfsTer25) c.4490del (p.Pro1497HisfsTer25) c.1256del (p.Pro419HisfsTer25) c.1118del (p.Pro373HisfsTer25) c.3680del (p.Pro1227HisfsTer25) c.4445del (p.Pro1482HisfsTer25) c.4634del (p.Pro1545HisfsTer25) c.4427del (p.Pro1476HisfsTer25) c.1130del (p.Pro377HisfsTer25) c.1175del (p.Pro392HisfsTer25) c.4631del (p.Pro1544HisfsTer25) c.955del c.1142del (p.Pro381HisfsTer25) c.4351del (n.4351del) c.881del (p.Pro294HisfsTer25) c.5-10487del (n.5-10487del) c.41del (p.Pro14HisfsTer25) c.-98-24248del (n.-98-24248del) n.4704del n.4745del	ClinVar dbSNP
17	g.43074439G>A	CA10592379	BRCA1	c.4564C>T (p.Pro1522Ser) c.4567C>T (p.Pro1523Ser) c.4441C>T (p.Pro1481Ser) c.4561C>T (p.Pro1521Ser) c.4489C>T (p.Pro1497Ser) c.1255C>T (p.Pro419Ser) c.1117C>T (p.Pro373Ser) c.3679C>T (p.Pro1227Ser) c.4444C>T (p.Pro1482Ser) c.4633C>T (p.Pro1545Ser) c.4426C>T (p.Pro1476Ser) c.1129C>T (p.Pro377Ser) c.1174C>T (p.Pro392Ser) c.4630C>T (p.Pro1544Ser) c.954C>T c.1141C>T (p.Pro381Ser) c.4350C>T (n.4350C>T) c.880C>T (p.Pro294Ser) c.5-10488C>T (n.5-10488C>T) c.40C>T (p.Pro14Ser) c.-98-24249C>T (n.-98-24249C>T) n.4703C>T n.4744C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.43074439G>C	CA10592380	BRCA1	c.4564C>G (p.Pro1522Ala) c.4567C>G (p.Pro1523Ala) c.4441C>G (p.Pro1481Ala) c.4561C>G (p.Pro1521Ala) c.4489C>G (p.Pro1497Ala) c.1255C>G (p.Pro419Ala) c.1117C>G (p.Pro373Ala) c.3679C>G (p.Pro1227Ala) c.4444C>G (p.Pro1482Ala) c.4633C>G (p.Pro1545Ala) c.4426C>G (p.Pro1476Ala) c.1129C>G (p.Pro377Ala) c.1174C>G (p.Pro392Ala) c.4630C>G (p.Pro1544Ala) c.954C>G c.1141C>G (p.Pro381Ala) c.4350C>G (n.4350C>G) c.880C>G (p.Pro294Ala) c.5-10488C>G (n.5-10488C>G) c.40C>G (p.Pro14Ala) c.-98-24249C>G (n.-98-24249C>G) n.4703C>G n.4744C>G	ClinVar dbSNP gnomAD v4
17	g.43074439G=	CA2260774517	BRCA1	c.4564C= (p.Pro1522=) c.4567C= (p.Pro1523=) c.4441C= (p.Pro1481=) c.4561C= (p.Pro1521=) c.4489C= (p.Pro1497=) c.1255C= (p.Pro419=) c.1117C= (p.Pro373=) c.3679C= (p.Pro1227=) c.4444C= (p.Pro1482=) c.4633C= (p.Pro1545=) c.4426C= (p.Pro1476=) c.1129C= (p.Pro377=) c.1174C= (p.Pro392=) c.4630C= (p.Pro1544=) c.954C= c.1141C= (p.Pro381=) c.4350C= (n.4350C=) c.880C= (p.Pro294=) c.5-10488C= (n.5-10488C=) c.40C= (p.Pro14=) c.-98-24249C= (n.-98-24249C=) n.4703C= n.4744C=
17	g.43074439G>T	CA10592381	BRCA1	c.4564C>A (p.Pro1522Thr) c.4567C>A (p.Pro1523Thr) c.4441C>A (p.Pro1481Thr) c.4561C>A (p.Pro1521Thr) c.4489C>A (p.Pro1497Thr) c.1255C>A (p.Pro419Thr) c.1117C>A (p.Pro373Thr) c.3679C>A (p.Pro1227Thr) c.4444C>A (p.Pro1482Thr) c.4633C>A (p.Pro1545Thr) c.4426C>A (p.Pro1476Thr) c.1129C>A (p.Pro377Thr) c.1174C>A (p.Pro392Thr) c.4630C>A (p.Pro1544Thr) c.954C>A c.1141C>A (p.Pro381Thr) c.4350C>A (n.4350C>A) c.880C>A (p.Pro294Thr) c.5-10488C>A (n.5-10488C>A) c.40C>A (p.Pro14Thr) c.-98-24249C>A (n.-98-24249C>A) n.4703C>A n.4744C>A	ClinVar dbSNP
17	g.43074440G>A	CA500146622	BRCA1	c.4563C>T (p.Tyr1521=) c.4566C>T (p.Tyr1522=) c.4440C>T (p.Tyr1480=) c.4560C>T (p.Tyr1520=) c.4488C>T (p.Tyr1496=) c.1254C>T (p.Tyr418=) c.1116C>T (p.Tyr372=) c.3678C>T (p.Tyr1226=) c.4443C>T (p.Tyr1481=) c.4632C>T (p.Tyr1544=) c.4425C>T (p.Tyr1475=) c.1128C>T (p.Tyr376=) c.1173C>T (p.Tyr391=) c.4629C>T (p.Tyr1543=) c.953C>T c.1140C>T (p.Tyr380=) c.4349C>T (n.4349C>T) c.879C>T (p.Tyr293=) c.5-10489C>T (n.5-10489C>T) c.39C>T (p.Tyr13=) c.-98-24250C>T (n.-98-24250C>T) n.4702C>T n.4743C>T	ClinVar dbSNP gnomAD v4
17	g.43074440G>C	CA10589658	BRCA1	c.4563C>G (p.Tyr1521Ter) c.4566C>G (p.Tyr1522Ter) c.4440C>G (p.Tyr1480Ter) c.4560C>G (p.Tyr1520Ter) c.4488C>G (p.Tyr1496Ter) c.1254C>G (p.Tyr418Ter) c.1116C>G (p.Tyr372Ter) c.3678C>G (p.Tyr1226Ter) c.4443C>G (p.Tyr1481Ter) c.4632C>G (p.Tyr1544Ter) c.4425C>G (p.Tyr1475Ter) c.1128C>G (p.Tyr376Ter) c.1173C>G (p.Tyr391Ter) c.4629C>G (p.Tyr1543Ter) c.953C>G c.1140C>G (p.Tyr380Ter) c.4349C>G (n.4349C>G) c.879C>G (p.Tyr293Ter) c.5-10489C>G (n.5-10489C>G) c.39C>G (p.Tyr13Ter) c.-98-24250C>G (n.-98-24250C>G) n.4702C>G n.4743C>G	ClinVar dbSNP
17	g.43074440G=	CA2260774518	BRCA1	c.4563C= (p.Tyr1521=) c.4566C= (p.Tyr1522=) c.4440C= (p.Tyr1480=) c.4560C= (p.Tyr1520=) c.4488C= (p.Tyr1496=) c.1254C= (p.Tyr418=) c.1116C= (p.Tyr372=) c.3678C= (p.Tyr1226=) c.4443C= (p.Tyr1481=) c.4632C= (p.Tyr1544=) c.4425C= (p.Tyr1475=) c.1128C= (p.Tyr376=) c.1173C= (p.Tyr391=) c.4629C= (p.Tyr1543=) c.953C= c.1140C= (p.Tyr380=) c.4349C= (n.4349C=) c.879C= (p.Tyr293=) c.5-10489C= (n.5-10489C=) c.39C= (p.Tyr13=) c.-98-24250C= (n.-98-24250C=) n.4702C= n.4743C=
17	g.43074440G>T	CA10589659	BRCA1	c.4563C>A (p.Tyr1521Ter) c.4566C>A (p.Tyr1522Ter) c.4440C>A (p.Tyr1480Ter) c.4560C>A (p.Tyr1520Ter) c.4488C>A (p.Tyr1496Ter) c.1254C>A (p.Tyr418Ter) c.1116C>A (p.Tyr372Ter) c.3678C>A (p.Tyr1226Ter) c.4443C>A (p.Tyr1481Ter) c.4632C>A (p.Tyr1544Ter) c.4425C>A (p.Tyr1475Ter) c.1128C>A (p.Tyr376Ter) c.1173C>A (p.Tyr391Ter) c.4629C>A (p.Tyr1543Ter) c.953C>A c.1140C>A (p.Tyr380Ter) c.4349C>A (n.4349C>A) c.879C>A (p.Tyr293Ter) c.5-10489C>A (n.5-10489C>A) c.39C>A (p.Tyr13Ter) c.-98-24250C>A (n.-98-24250C>A) n.4702C>A n.4743C>A	ClinVar dbSNP
17	g.43074441T>A	CA10592382	BRCA1	c.4562A>T (p.Tyr1521Phe) c.4565A>T (p.Tyr1522Phe) c.4439A>T (p.Tyr1480Phe) c.4559A>T (p.Tyr1520Phe) c.4487A>T (p.Tyr1496Phe) c.1253A>T (p.Tyr418Phe) c.1115A>T (p.Tyr372Phe) c.3677A>T (p.Tyr1226Phe) c.4442A>T (p.Tyr1481Phe) c.4631A>T (p.Tyr1544Phe) c.4424A>T (p.Tyr1475Phe) c.1127A>T (p.Tyr376Phe) c.1172A>T (p.Tyr391Phe) c.4628A>T (p.Tyr1543Phe) c.952A>T c.1139A>T (p.Tyr380Phe) c.4348A>T (n.4348A>T) c.878A>T (p.Tyr293Phe) c.5-10490A>T (n.5-10490A>T) c.38A>T (p.Tyr13Phe) c.-98-24251A>T (n.-98-24251A>T) n.4701A>T n.4742A>T	dbSNP
17	g.43074441T>C	CA002906	BRCA1	c.4562A>G (p.Tyr1521Cys) c.4565A>G (p.Tyr1522Cys) c.4439A>G (p.Tyr1480Cys) c.4559A>G (p.Tyr1520Cys) c.4487A>G (p.Tyr1496Cys) c.1253A>G (p.Tyr418Cys) c.1115A>G (p.Tyr372Cys) c.3677A>G (p.Tyr1226Cys) c.4442A>G (p.Tyr1481Cys) c.4631A>G (p.Tyr1544Cys) c.4424A>G (p.Tyr1475Cys) c.1127A>G (p.Tyr376Cys) c.1172A>G (p.Tyr391Cys) c.4628A>G (p.Tyr1543Cys) c.952A>G c.1139A>G (p.Tyr380Cys) c.4348A>G (n.4348A>G) c.878A>G (p.Tyr293Cys) c.5-10490A>G (n.5-10490A>G) c.38A>G (p.Tyr13Cys) c.-98-24251A>G (n.-98-24251A>G) n.4701A>G n.4742A>G	ClinVar dbSNP
17	g.43074441T>G	CA10592383	BRCA1	c.4562A>C (p.Tyr1521Ser) c.4565A>C (p.Tyr1522Ser) c.4439A>C (p.Tyr1480Ser) c.4559A>C (p.Tyr1520Ser) c.4487A>C (p.Tyr1496Ser) c.1253A>C (p.Tyr418Ser) c.1115A>C (p.Tyr372Ser) c.3677A>C (p.Tyr1226Ser) c.4442A>C (p.Tyr1481Ser) c.4631A>C (p.Tyr1544Ser) c.4424A>C (p.Tyr1475Ser) c.1127A>C (p.Tyr376Ser) c.1172A>C (p.Tyr391Ser) c.4628A>C (p.Tyr1543Ser) c.952A>C c.1139A>C (p.Tyr380Ser) c.4348A>C (n.4348A>C) c.878A>C (p.Tyr293Ser) c.5-10490A>C (n.5-10490A>C) c.38A>C (p.Tyr13Ser) c.-98-24251A>C (n.-98-24251A>C) n.4701A>C n.4742A>C	dbSNP
17	g.43074441T=	CA2260774519	BRCA1	c.4562A= (p.Tyr1521=) c.4565A= (p.Tyr1522=) c.4439A= (p.Tyr1480=) c.4559A= (p.Tyr1520=) c.4487A= (p.Tyr1496=) c.1253A= (p.Tyr418=) c.1115A= (p.Tyr372=) c.3677A= (p.Tyr1226=) c.4442A= (p.Tyr1481=) c.4631A= (p.Tyr1544=) c.4424A= (p.Tyr1475=) c.1127A= (p.Tyr376=) c.1172A= (p.Tyr391=) c.4628A= (p.Tyr1543=) c.952A= c.1139A= (p.Tyr380=) c.4348A= (n.4348A=) c.878A= (p.Tyr293=) c.5-10490A= (n.5-10490A=) c.38A= (p.Tyr13=) c.-98-24251A= (n.-98-24251A=) n.4701A= n.4742A=
17	g.43074442A=	CA2260774520	BRCA1	c.4561T= (p.Tyr1521=) c.4564T= (p.Tyr1522=) c.4438T= (p.Tyr1480=) c.4558T= (p.Tyr1520=) c.4486T= (p.Tyr1496=) c.1252T= (p.Tyr418=) c.1114T= (p.Tyr372=) c.3676T= (p.Tyr1226=) c.4441T= (p.Tyr1481=) c.4630T= (p.Tyr1544=) c.4423T= (p.Tyr1475=) c.1126T= (p.Tyr376=) c.1171T= (p.Tyr391=) c.4627T= (p.Tyr1543=) c.951T= c.1138T= (p.Tyr380=) c.4347T= (n.4347T=) c.877T= (p.Tyr293=) c.5-10491T= (n.5-10491T=) c.37T= (p.Tyr13=) c.-98-24252T= (n.-98-24252T=) n.4700T= n.4741T=
17	g.43074442A>C	CA10592384	BRCA1	c.4561T>G (p.Tyr1521Asp) c.4564T>G (p.Tyr1522Asp) c.4438T>G (p.Tyr1480Asp) c.4558T>G (p.Tyr1520Asp) c.4486T>G (p.Tyr1496Asp) c.1252T>G (p.Tyr418Asp) c.1114T>G (p.Tyr372Asp) c.3676T>G (p.Tyr1226Asp) c.4441T>G (p.Tyr1481Asp) c.4630T>G (p.Tyr1544Asp) c.4423T>G (p.Tyr1475Asp) c.1126T>G (p.Tyr376Asp) c.1171T>G (p.Tyr391Asp) c.4627T>G (p.Tyr1543Asp) c.951T>G c.1138T>G (p.Tyr380Asp) c.4347T>G (n.4347T>G) c.877T>G (p.Tyr293Asp) c.5-10491T>G (n.5-10491T>G) c.37T>G (p.Tyr13Asp) c.-98-24252T>G (n.-98-24252T>G) n.4700T>G n.4741T>G
17	g.43074442A>G	CA10592385	BRCA1	c.4561T>C (p.Tyr1521His) c.4564T>C (p.Tyr1522His) c.4438T>C (p.Tyr1480His) c.4558T>C (p.Tyr1520His) c.4486T>C (p.Tyr1496His) c.1252T>C (p.Tyr418His) c.1114T>C (p.Tyr372His) c.3676T>C (p.Tyr1226His) c.4441T>C (p.Tyr1481His) c.4630T>C (p.Tyr1544His) c.4423T>C (p.Tyr1475His) c.1126T>C (p.Tyr376His) c.1171T>C (p.Tyr391His) c.4627T>C (p.Tyr1543His) c.951T>C c.1138T>C (p.Tyr380His) c.4347T>C (n.4347T>C) c.877T>C (p.Tyr293His) c.5-10491T>C (n.5-10491T>C) c.37T>C (p.Tyr13His) c.-98-24252T>C (n.-98-24252T>C) n.4700T>C n.4741T>C	ClinVar dbSNP gnomAD v4
17	g.43074442A>T	CA10592386	BRCA1	c.4561T>A (p.Tyr1521Asn) c.4564T>A (p.Tyr1522Asn) c.4438T>A (p.Tyr1480Asn) c.4558T>A (p.Tyr1520Asn) c.4486T>A (p.Tyr1496Asn) c.1252T>A (p.Tyr418Asn) c.1114T>A (p.Tyr372Asn) c.3676T>A (p.Tyr1226Asn) c.4441T>A (p.Tyr1481Asn) c.4630T>A (p.Tyr1544Asn) c.4423T>A (p.Tyr1475Asn) c.1126T>A (p.Tyr376Asn) c.1171T>A (p.Tyr391Asn) c.4627T>A (p.Tyr1543Asn) c.951T>A c.1138T>A (p.Tyr380Asn) c.4347T>A (n.4347T>A) c.877T>A (p.Tyr293Asn) c.5-10491T>A (n.5-10491T>A) c.37T>A (p.Tyr13Asn) c.-98-24252T>A (n.-98-24252T>A) n.4700T>A n.4741T>A	dbSNP
17	g.43074443G>A	CA500146623	BRCA1	c.4560C>T (p.Asn1520=) c.4563C>T (p.Asn1521=) c.4437C>T (p.Asn1479=) c.4557C>T (p.Asn1519=) c.4485C>T (p.Asn1495=) c.1251C>T (p.Asn417=) c.1113C>T (p.Asn371=) c.3675C>T (p.Asn1225=) c.4440C>T (p.Asn1480=) c.4629C>T (p.Asn1543=) c.4422C>T (p.Asn1474=) c.1125C>T (p.Asn375=) c.1170C>T (p.Asn390=) c.4626C>T (p.Asn1542=) c.950C>T c.1137C>T (p.Asn379=) c.4346C>T (n.4346C>T) c.876C>T (p.Asn292=) c.5-10492C>T (n.5-10492C>T) c.36C>T (p.Asn12=) c.-98-24253C>T (n.-98-24253C>T) n.4699C>T n.4740C>T	ClinVar dbSNP
17	g.43074443G>C	CA10592387	BRCA1	c.4560C>G (p.Asn1520Lys) c.4563C>G (p.Asn1521Lys) c.4437C>G (p.Asn1479Lys) c.4557C>G (p.Asn1519Lys) c.4485C>G (p.Asn1495Lys) c.1251C>G (p.Asn417Lys) c.1113C>G (p.Asn371Lys) c.3675C>G (p.Asn1225Lys) c.4440C>G (p.Asn1480Lys) c.4629C>G (p.Asn1543Lys) c.4422C>G (p.Asn1474Lys) c.1125C>G (p.Asn375Lys) c.1170C>G (p.Asn390Lys) c.4626C>G (p.Asn1542Lys) c.950C>G c.1137C>G (p.Asn379Lys) c.4346C>G (n.4346C>G) c.876C>G (p.Asn292Lys) c.5-10492C>G (n.5-10492C>G) c.36C>G (p.Asn12Lys) c.-98-24253C>G (n.-98-24253C>G) n.4699C>G n.4740C>G	dbSNP
17	g.43074443G>T	CA10592388	BRCA1	c.4560C>A (p.Asn1520Lys) c.4563C>A (p.Asn1521Lys) c.4437C>A (p.Asn1479Lys) c.4557C>A (p.Asn1519Lys) c.4485C>A (p.Asn1495Lys) c.1251C>A (p.Asn417Lys) c.1113C>A (p.Asn371Lys) c.3675C>A (p.Asn1225Lys) c.4440C>A (p.Asn1480Lys) c.4629C>A (p.Asn1543Lys) c.4422C>A (p.Asn1474Lys) c.1125C>A (p.Asn375Lys) c.1170C>A (p.Asn390Lys) c.4626C>A (p.Asn1542Lys) c.950C>A c.1137C>A (p.Asn379Lys) c.4346C>A (n.4346C>A) c.876C>A (p.Asn292Lys) c.5-10492C>A (n.5-10492C>A) c.36C>A (p.Asn12Lys) c.-98-24253C>A (n.-98-24253C>A) n.4699C>A n.4740C>A	dbSNP
17	g.43074443_43074444insCTCCT	CA2499224405	BRCA1	c.4559_4560insAGGAG (p.Asn1520LysfsTer29) c.4562_4563insAGGAG (p.Asn1521LysfsTer29) c.4436_4437insAGGAG (p.Asn1479LysfsTer29) c.4556_4557insAGGAG (p.Asn1519LysfsTer29) c.4484_4485insAGGAG (p.Asn1495LysfsTer29) c.1250_1251insAGGAG (p.Asn417LysfsTer29) c.1112_1113insAGGAG (p.Asn371LysfsTer29) c.3674_3675insAGGAG (p.Asn1225LysfsTer29) c.4439_4440insAGGAG (p.Asn1480LysfsTer29) c.4628_4629insAGGAG (p.Asn1543LysfsTer29) c.4421_4422insAGGAG (p.Asn1474LysfsTer29) c.1124_1125insAGGAG (p.Asn375LysfsTer29) c.1169_1170insAGGAG (p.Asn390LysfsTer29) c.4625_4626insAGGAG (p.Asn1542LysfsTer29) c.949_950insAGGAG c.1136_1137insAGGAG (p.Asn379LysfsTer29) c.4345_4346insAGGAG (n.4345_4346insAGGAG) c.875_876insAGGAG (p.Asn292LysfsTer29) c.5-10493_5-10492insAGGAG (n.5-10493_5-10492insAGGAG) c.35_36insAGGAG (p.Asn12LysfsTer29) c.-98-24254_-98-24253insAGGAG (n.-98-24254_-98-24253insAGGAG) n.4698_4699insAGGAG n.4739_4740insAGGAG
17	g.43074444T>A	CA10592389	BRCA1	c.4559A>T (p.Asn1520Ile) c.4562A>T (p.Asn1521Ile) c.4436A>T (p.Asn1479Ile) c.4556A>T (p.Asn1519Ile) c.4484A>T (p.Asn1495Ile) c.1250A>T (p.Asn417Ile) c.1112A>T (p.Asn371Ile) c.3674A>T (p.Asn1225Ile) c.4439A>T (p.Asn1480Ile) c.4628A>T (p.Asn1543Ile) c.4421A>T (p.Asn1474Ile) c.1124A>T (p.Asn375Ile) c.1169A>T (p.Asn390Ile) c.4625A>T (p.Asn1542Ile) c.949A>T c.1136A>T (p.Asn379Ile) c.4345A>T (n.4345A>T) c.875A>T (p.Asn292Ile) c.5-10493A>T (n.5-10493A>T) c.35A>T (p.Asn12Ile) c.-98-24254A>T (n.-98-24254A>T) n.4698A>T n.4739A>T
17	g.43074444T>C	CA10592390	BRCA1	c.4559A>G (p.Asn1520Ser) c.4562A>G (p.Asn1521Ser) c.4436A>G (p.Asn1479Ser) c.4556A>G (p.Asn1519Ser) c.4484A>G (p.Asn1495Ser) c.1250A>G (p.Asn417Ser) c.1112A>G (p.Asn371Ser) c.3674A>G (p.Asn1225Ser) c.4439A>G (p.Asn1480Ser) c.4628A>G (p.Asn1543Ser) c.4421A>G (p.Asn1474Ser) c.1124A>G (p.Asn375Ser) c.1169A>G (p.Asn390Ser) c.4625A>G (p.Asn1542Ser) c.949A>G c.1136A>G (p.Asn379Ser) c.4345A>G (n.4345A>G) c.875A>G (p.Asn292Ser) c.5-10493A>G (n.5-10493A>G) c.35A>G (p.Asn12Ser) c.-98-24254A>G (n.-98-24254A>G) n.4698A>G n.4739A>G	ClinVar
17	g.43074444T>G	CA10592391	BRCA1	c.4559A>C (p.Asn1520Thr) c.4562A>C (p.Asn1521Thr) c.4436A>C (p.Asn1479Thr) c.4556A>C (p.Asn1519Thr) c.4484A>C (p.Asn1495Thr) c.1250A>C (p.Asn417Thr) c.1112A>C (p.Asn371Thr) c.3674A>C (p.Asn1225Thr) c.4439A>C (p.Asn1480Thr) c.4628A>C (p.Asn1543Thr) c.4421A>C (p.Asn1474Thr) c.1124A>C (p.Asn375Thr) c.1169A>C (p.Asn390Thr) c.4625A>C (p.Asn1542Thr) c.949A>C c.1136A>C (p.Asn379Thr) c.4345A>C (n.4345A>C) c.875A>C (p.Asn292Thr) c.5-10493A>C (n.5-10493A>C) c.35A>C (p.Asn12Thr) c.-98-24254A>C (n.-98-24254A>C) n.4698A>C n.4739A>C
17	g.43074446del	CA2580094242	BRCA1	c.4559del (p.Asn1520ThrfsTer27) c.4562del (p.Asn1521ThrfsTer27) c.4436del (p.Asn1479ThrfsTer27) c.4556del (p.Asn1519ThrfsTer27) c.4484del (p.Asn1495ThrfsTer27) c.1250del (p.Asn417ThrfsTer27) c.1112del (p.Asn371ThrfsTer27) c.3674del (p.Asn1225ThrfsTer27) c.4439del (p.Asn1480ThrfsTer27) c.4628del (p.Asn1543ThrfsTer27) c.4421del (p.Asn1474ThrfsTer27) c.1124del (p.Asn375ThrfsTer27) c.1169del (p.Asn390ThrfsTer27) c.4625del (p.Asn1542ThrfsTer27) c.949del c.1136del (p.Asn379ThrfsTer27) c.4345del (n.4345del) c.875del (p.Asn292ThrfsTer27) c.5-10493del (n.5-10493del) c.35del (p.Asn12ThrfsTer27) c.-98-24254del (n.-98-24254del) n.4698del n.4739del	ClinVar
17	g.43074445T>A	CA10592392	BRCA1	c.4558A>T (p.Asn1520Tyr) c.4561A>T (p.Asn1521Tyr) c.4435A>T (p.Asn1479Tyr) c.4555A>T (p.Asn1519Tyr) c.4483A>T (p.Asn1495Tyr) c.1249A>T (p.Asn417Tyr) c.1111A>T (p.Asn371Tyr) c.3673A>T (p.Asn1225Tyr) c.4438A>T (p.Asn1480Tyr) c.4627A>T (p.Asn1543Tyr) c.4420A>T (p.Asn1474Tyr) c.1123A>T (p.Asn375Tyr) c.1168A>T (p.Asn390Tyr) c.4624A>T (p.Asn1542Tyr) c.948A>T c.1135A>T (p.Asn379Tyr) c.4344A>T (n.4344A>T) c.874A>T (p.Asn292Tyr) c.5-10494A>T (n.5-10494A>T) c.34A>T (p.Asn12Tyr) c.-98-24255A>T (n.-98-24255A>T) n.4697A>T n.4738A>T	dbSNP
17	g.43074445T>C	CA10592393	BRCA1	c.4558A>G (p.Asn1520Asp) c.4561A>G (p.Asn1521Asp) c.4435A>G (p.Asn1479Asp) c.4555A>G (p.Asn1519Asp) c.4483A>G (p.Asn1495Asp) c.1249A>G (p.Asn417Asp) c.1111A>G (p.Asn371Asp) c.3673A>G (p.Asn1225Asp) c.4438A>G (p.Asn1480Asp) c.4627A>G (p.Asn1543Asp) c.4420A>G (p.Asn1474Asp) c.1123A>G (p.Asn375Asp) c.1168A>G (p.Asn390Asp) c.4624A>G (p.Asn1542Asp) c.948A>G c.1135A>G (p.Asn379Asp) c.4344A>G (n.4344A>G) c.874A>G (p.Asn292Asp) c.5-10494A>G (n.5-10494A>G) c.34A>G (p.Asn12Asp) c.-98-24255A>G (n.-98-24255A>G) n.4697A>G n.4738A>G	dbSNP
17	g.43074445T>G	CA10592394	BRCA1	c.4558A>C (p.Asn1520His) c.4561A>C (p.Asn1521His) c.4435A>C (p.Asn1479His) c.4555A>C (p.Asn1519His) c.4483A>C (p.Asn1495His) c.1249A>C (p.Asn417His) c.1111A>C (p.Asn371His) c.3673A>C (p.Asn1225His) c.4438A>C (p.Asn1480His) c.4627A>C (p.Asn1543His) c.4420A>C (p.Asn1474His) c.1123A>C (p.Asn375His) c.1168A>C (p.Asn390His) c.4624A>C (p.Asn1542His) c.948A>C c.1135A>C (p.Asn379His) c.4344A>C (n.4344A>C) c.874A>C (p.Asn292His) c.5-10494A>C (n.5-10494A>C) c.34A>C (p.Asn12His) c.-98-24255A>C (n.-98-24255A>C) n.4697A>C n.4738A>C	dbSNP
17	g.43074446T>A	CA10592395	BRCA1	c.4557A>T (p.Arg1519Ser) c.4560A>T (p.Arg1520Ser) c.4434A>T (p.Arg1478Ser) c.4554A>T (p.Arg1518Ser) c.4482A>T (p.Arg1494Ser) c.1248A>T (p.Arg416Ser) c.1110A>T (p.Arg370Ser) c.3672A>T (p.Arg1224Ser) c.4437A>T (p.Arg1479Ser) c.4626A>T (p.Arg1542Ser) c.4419A>T (p.Arg1473Ser) c.1122A>T (p.Arg374Ser) c.1167A>T (p.Arg389Ser) c.4623A>T (p.Arg1541Ser) c.947A>T c.1134A>T (p.Arg378Ser) c.4343A>T (n.4343A>T) c.873A>T (p.Arg291Ser) c.5-10495A>T (n.5-10495A>T) c.33A>T (p.Arg11Ser) c.-98-24256A>T (n.-98-24256A>T) n.4696A>T n.4737A>T
17	g.43074446T>C	CA052524	BRCA1	c.4557A>G (p.Arg1519=) c.4560A>G (p.Arg1520=) c.4434A>G (p.Arg1478=) c.4554A>G (p.Arg1518=) c.4482A>G (p.Arg1494=) c.1248A>G (p.Arg416=) c.1110A>G (p.Arg370=) c.3672A>G (p.Arg1224=) c.4437A>G (p.Arg1479=) c.4626A>G (p.Arg1542=) c.4419A>G (p.Arg1473=) c.1122A>G (p.Arg374=) c.1167A>G (p.Arg389=) c.4623A>G (p.Arg1541=) c.947A>G c.1134A>G (p.Arg378=) c.4343A>G (n.4343A>G) c.873A>G (p.Arg291=) c.5-10495A>G (n.5-10495A>G) c.33A>G (p.Arg11=) c.-98-24256A>G (n.-98-24256A>G) n.4696A>G n.4737A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43074446T>G	CA10592396	BRCA1	c.4557A>C (p.Arg1519Ser) c.4560A>C (p.Arg1520Ser) c.4434A>C (p.Arg1478Ser) c.4554A>C (p.Arg1518Ser) c.4482A>C (p.Arg1494Ser) c.1248A>C (p.Arg416Ser) c.1110A>C (p.Arg370Ser) c.3672A>C (p.Arg1224Ser) c.4437A>C (p.Arg1479Ser) c.4626A>C (p.Arg1542Ser) c.4419A>C (p.Arg1473Ser) c.1122A>C (p.Arg374Ser) c.1167A>C (p.Arg389Ser) c.4623A>C (p.Arg1541Ser) c.947A>C c.1134A>C (p.Arg378Ser) c.4343A>C (n.4343A>C) c.873A>C (p.Arg291Ser) c.5-10495A>C (n.5-10495A>C) c.33A>C (p.Arg11Ser) c.-98-24256A>C (n.-98-24256A>C) n.4696A>C n.4737A>C
17	g.43074446T=	CA2260774521	BRCA1	c.4557A= (p.Arg1519=) c.4560A= (p.Arg1520=) c.4434A= (p.Arg1478=) c.4554A= (p.Arg1518=) c.4482A= (p.Arg1494=) c.1248A= (p.Arg416=) c.1110A= (p.Arg370=) c.3672A= (p.Arg1224=) c.4437A= (p.Arg1479=) c.4626A= (p.Arg1542=) c.4419A= (p.Arg1473=) c.1122A= (p.Arg374=) c.1167A= (p.Arg389=) c.4623A= (p.Arg1541=) c.947A= c.1134A= (p.Arg378=) c.4343A= (n.4343A=) c.873A= (p.Arg291=) c.5-10495A= (n.5-10495A=) c.33A= (p.Arg11=) c.-98-24256A= (n.-98-24256A=) n.4696A= n.4737A=
17	g.43074447C>A	CA10592397	BRCA1	c.4556G>T (p.Arg1519Ile) c.4559G>T (p.Arg1520Ile) c.4433G>T (p.Arg1478Ile) c.4553G>T (p.Arg1518Ile) c.4481G>T (p.Arg1494Ile) c.1247G>T (p.Arg416Ile) c.1109G>T (p.Arg370Ile) c.3671G>T (p.Arg1224Ile) c.4436G>T (p.Arg1479Ile) c.4625G>T (p.Arg1542Ile) c.4418G>T (p.Arg1473Ile) c.1121G>T (p.Arg374Ile) c.1166G>T (p.Arg389Ile) c.4622G>T (p.Arg1541Ile) c.946G>T c.1133G>T (p.Arg378Ile) c.4342G>T (n.4342G>T) c.872G>T (p.Arg291Ile) c.5-10496G>T (n.5-10496G>T) c.32G>T (p.Arg11Ile) c.-98-24257G>T (n.-98-24257G>T) n.4695G>T n.4736G>T
17	g.43074447C=	CA2260774522	BRCA1	c.4556G= (p.Arg1519=) c.4559G= (p.Arg1520=) c.4433G= (p.Arg1478=) c.4553G= (p.Arg1518=) c.4481G= (p.Arg1494=) c.1247G= (p.Arg416=) c.1109G= (p.Arg370=) c.3671G= (p.Arg1224=) c.4436G= (p.Arg1479=) c.4625G= (p.Arg1542=) c.4418G= (p.Arg1473=) c.1121G= (p.Arg374=) c.1166G= (p.Arg389=) c.4622G= (p.Arg1541=) c.946G= c.1133G= (p.Arg378=) c.4342G= (n.4342G=) c.872G= (p.Arg291=) c.5-10496G= (n.5-10496G=) c.32G= (p.Arg11=) c.-98-24257G= (n.-98-24257G=) n.4695G= n.4736G=
17	g.43074447C>G	CA10592398	BRCA1	c.4556G>C (p.Arg1519Thr) c.4559G>C (p.Arg1520Thr) c.4433G>C (p.Arg1478Thr) c.4553G>C (p.Arg1518Thr) c.4481G>C (p.Arg1494Thr) c.1247G>C (p.Arg416Thr) c.1109G>C (p.Arg370Thr) c.3671G>C (p.Arg1224Thr) c.4436G>C (p.Arg1479Thr) c.4625G>C (p.Arg1542Thr) c.4418G>C (p.Arg1473Thr) c.1121G>C (p.Arg374Thr) c.1166G>C (p.Arg389Thr) c.4622G>C (p.Arg1541Thr) c.946G>C c.1133G>C (p.Arg378Thr) c.4342G>C (n.4342G>C) c.872G>C (p.Arg291Thr) c.5-10496G>C (n.5-10496G>C) c.32G>C (p.Arg11Thr) c.-98-24257G>C (n.-98-24257G>C) n.4695G>C n.4736G>C	ClinVar dbSNP
17	g.43074447C>T	CA10592399	BRCA1	c.4556G>A (p.Arg1519Lys) c.4559G>A (p.Arg1520Lys) c.4433G>A (p.Arg1478Lys) c.4553G>A (p.Arg1518Lys) c.4481G>A (p.Arg1494Lys) c.1247G>A (p.Arg416Lys) c.1109G>A (p.Arg370Lys) c.3671G>A (p.Arg1224Lys) c.4436G>A (p.Arg1479Lys) c.4625G>A (p.Arg1542Lys) c.4418G>A (p.Arg1473Lys) c.1121G>A (p.Arg374Lys) c.1166G>A (p.Arg389Lys) c.4622G>A (p.Arg1541Lys) c.946G>A c.1133G>A (p.Arg378Lys) c.4342G>A (n.4342G>A) c.872G>A (p.Arg291Lys) c.5-10496G>A (n.5-10496G>A) c.32G>A (p.Arg11Lys) c.-98-24257G>A (n.-98-24257G>A) n.4695G>A n.4736G>A	dbSNP
17	g.43074448T>A	CA10592400	BRCA1	c.4555A>T (p.Arg1519Ter) c.4558A>T (p.Arg1520Ter) c.4432A>T (p.Arg1478Ter) c.4552A>T (p.Arg1518Ter) c.4480A>T (p.Arg1494Ter) c.1246A>T (p.Arg416Ter) c.1108A>T (p.Arg370Ter) c.3670A>T (p.Arg1224Ter) c.4435A>T (p.Arg1479Ter) c.4624A>T (p.Arg1542Ter) c.4417A>T (p.Arg1473Ter) c.1120A>T (p.Arg374Ter) c.1165A>T (p.Arg389Ter) c.4621A>T (p.Arg1541Ter) c.945A>T c.1132A>T (p.Arg378Ter) c.4341A>T (n.4341A>T) c.871A>T (p.Arg291Ter) c.5-10497A>T (n.5-10497A>T) c.31A>T (p.Arg11Ter) c.-98-24258A>T (n.-98-24258A>T) n.4694A>T n.4735A>T
17	g.43074448T>C	CA10592401	BRCA1	c.4555A>G (p.Arg1519Gly) c.4558A>G (p.Arg1520Gly) c.4432A>G (p.Arg1478Gly) c.4552A>G (p.Arg1518Gly) c.4480A>G (p.Arg1494Gly) c.1246A>G (p.Arg416Gly) c.1108A>G (p.Arg370Gly) c.3670A>G (p.Arg1224Gly) c.4435A>G (p.Arg1479Gly) c.4624A>G (p.Arg1542Gly) c.4417A>G (p.Arg1473Gly) c.1120A>G (p.Arg374Gly) c.1165A>G (p.Arg389Gly) c.4621A>G (p.Arg1541Gly) c.945A>G c.1132A>G (p.Arg378Gly) c.4341A>G (n.4341A>G) c.871A>G (p.Arg291Gly) c.5-10497A>G (n.5-10497A>G) c.31A>G (p.Arg11Gly) c.-98-24258A>G (n.-98-24258A>G) n.4694A>G n.4735A>G
17	g.43074448T>G	CA500146624	BRCA1	c.4555A>C (p.Arg1519=) c.4558A>C (p.Arg1520=) c.4432A>C (p.Arg1478=) c.4552A>C (p.Arg1518=) c.4480A>C (p.Arg1494=) c.1246A>C (p.Arg416=) c.1108A>C (p.Arg370=) c.3670A>C (p.Arg1224=) c.4435A>C (p.Arg1479=) c.4624A>C (p.Arg1542=) c.4417A>C (p.Arg1473=) c.1120A>C (p.Arg374=) c.1165A>C (p.Arg389=) c.4621A>C (p.Arg1541=) c.945A>C c.1132A>C (p.Arg378=) c.4341A>C (n.4341A>C) c.871A>C (p.Arg291=) c.5-10497A>C (n.5-10497A>C) c.31A>C (p.Arg11=) c.-98-24258A>C (n.-98-24258A>C) n.4694A>C n.4735A>C
17	g.43074449A=	CA2260774523	BRCA1	c.4554T= (p.Asn1518=) c.4557T= (p.Asn1519=) c.4431T= (p.Asn1477=) c.4551T= (p.Asn1517=) c.4479T= (p.Asn1493=) c.1245T= (p.Asn415=) c.1107T= (p.Asn369=) c.3669T= (p.Asn1223=) c.4434T= (p.Asn1478=) c.4623T= (p.Asn1541=) c.4416T= (p.Asn1472=) c.1119T= (p.Asn373=) c.1164T= (p.Asn388=) c.4620T= (p.Asn1540=) c.944T= c.1131T= (p.Asn377=) c.4340T= (n.4340T=) c.870T= (p.Asn290=) c.5-10498T= (n.5-10498T=) c.30T= (p.Asn10=) c.-98-24259T= (n.-98-24259T=) n.4693T= n.4734T=
17	g.43074449A>C	CA10592402	BRCA1	c.4554T>G (p.Asn1518Lys) c.4557T>G (p.Asn1519Lys) c.4431T>G (p.Asn1477Lys) c.4551T>G (p.Asn1517Lys) c.4479T>G (p.Asn1493Lys) c.1245T>G (p.Asn415Lys) c.1107T>G (p.Asn369Lys) c.3669T>G (p.Asn1223Lys) c.4434T>G (p.Asn1478Lys) c.4623T>G (p.Asn1541Lys) c.4416T>G (p.Asn1472Lys) c.1119T>G (p.Asn373Lys) c.1164T>G (p.Asn388Lys) c.4620T>G (p.Asn1540Lys) c.944T>G c.1131T>G (p.Asn377Lys) c.4340T>G (n.4340T>G) c.870T>G (p.Asn290Lys) c.5-10498T>G (n.5-10498T>G) c.30T>G (p.Asn10Lys) c.-98-24259T>G (n.-98-24259T>G) n.4693T>G n.4734T>G	dbSNP
17	g.43074449A>G	CA10580517	BRCA1	c.4554T>C (p.Asn1518=) c.4557T>C (p.Asn1519=) c.4431T>C (p.Asn1477=) c.4551T>C (p.Asn1517=) c.4479T>C (p.Asn1493=) c.1245T>C (p.Asn415=) c.1107T>C (p.Asn369=) c.3669T>C (p.Asn1223=) c.4434T>C (p.Asn1478=) c.4623T>C (p.Asn1541=) c.4416T>C (p.Asn1472=) c.1119T>C (p.Asn373=) c.1164T>C (p.Asn388=) c.4620T>C (p.Asn1540=) c.944T>C c.1131T>C (p.Asn377=) c.4340T>C (n.4340T>C) c.870T>C (p.Asn290=) c.5-10498T>C (n.5-10498T>C) c.30T>C (p.Asn10=) c.-98-24259T>C (n.-98-24259T>C) n.4693T>C n.4734T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.43074449A>T	CA10592403	BRCA1	c.4554T>A (p.Asn1518Lys) c.4557T>A (p.Asn1519Lys) c.4431T>A (p.Asn1477Lys) c.4551T>A (p.Asn1517Lys) c.4479T>A (p.Asn1493Lys) c.1245T>A (p.Asn415Lys) c.1107T>A (p.Asn369Lys) c.3669T>A (p.Asn1223Lys) c.4434T>A (p.Asn1478Lys) c.4623T>A (p.Asn1541Lys) c.4416T>A (p.Asn1472Lys) c.1119T>A (p.Asn373Lys) c.1164T>A (p.Asn388Lys) c.4620T>A (p.Asn1540Lys) c.944T>A c.1131T>A (p.Asn377Lys) c.4340T>A (n.4340T>A) c.870T>A (p.Asn290Lys) c.5-10498T>A (n.5-10498T>A) c.30T>A (p.Asn10Lys) c.-98-24259T>A (n.-98-24259T>A) n.4693T>A n.4734T>A	dbSNP
17	g.43074450T>A	CA10592404	BRCA1	c.4553A>T (p.Asn1518Ile) c.4556A>T (p.Asn1519Ile) c.4430A>T (p.Asn1477Ile) c.4550A>T (p.Asn1517Ile) c.4478A>T (p.Asn1493Ile) c.1244A>T (p.Asn415Ile) c.1106A>T (p.Asn369Ile) c.3668A>T (p.Asn1223Ile) c.4433A>T (p.Asn1478Ile) c.4622A>T (p.Asn1541Ile) c.4415A>T (p.Asn1472Ile) c.1118A>T (p.Asn373Ile) c.1163A>T (p.Asn388Ile) c.4619A>T (p.Asn1540Ile) c.943A>T c.1130A>T (p.Asn377Ile) c.4339A>T (n.4339A>T) c.869A>T (p.Asn290Ile) c.5-10499A>T (n.5-10499A>T) c.29A>T (p.Asn10Ile) c.-98-24260A>T (n.-98-24260A>T) n.4692A>T n.4733A>T
17	g.43074450T>C	CA052514	BRCA1	c.4553A>G (p.Asn1518Ser) c.4556A>G (p.Asn1519Ser) c.4430A>G (p.Asn1477Ser) c.4550A>G (p.Asn1517Ser) c.4478A>G (p.Asn1493Ser) c.1244A>G (p.Asn415Ser) c.1106A>G (p.Asn369Ser) c.3668A>G (p.Asn1223Ser) c.4433A>G (p.Asn1478Ser) c.4622A>G (p.Asn1541Ser) c.4415A>G (p.Asn1472Ser) c.1118A>G (p.Asn373Ser) c.1163A>G (p.Asn388Ser) c.4619A>G (p.Asn1540Ser) c.943A>G c.1130A>G (p.Asn377Ser) c.4339A>G (n.4339A>G) c.869A>G (p.Asn290Ser) c.5-10499A>G (n.5-10499A>G) c.29A>G (p.Asn10Ser) c.-98-24260A>G (n.-98-24260A>G) n.4692A>G n.4733A>G	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43074450T>G	CA10592405	BRCA1	c.4553A>C (p.Asn1518Thr) c.4556A>C (p.Asn1519Thr) c.4430A>C (p.Asn1477Thr) c.4550A>C (p.Asn1517Thr) c.4478A>C (p.Asn1493Thr) c.1244A>C (p.Asn415Thr) c.1106A>C (p.Asn369Thr) c.3668A>C (p.Asn1223Thr) c.4433A>C (p.Asn1478Thr) c.4622A>C (p.Asn1541Thr) c.4415A>C (p.Asn1472Thr) c.1118A>C (p.Asn373Thr) c.1163A>C (p.Asn388Thr) c.4619A>C (p.Asn1540Thr) c.943A>C c.1130A>C (p.Asn377Thr) c.4339A>C (n.4339A>C) c.869A>C (p.Asn290Thr) c.5-10499A>C (n.5-10499A>C) c.29A>C (p.Asn10Thr) c.-98-24260A>C (n.-98-24260A>C) n.4692A>C n.4733A>C
17	g.43074450T=	CA2260774524	BRCA1	c.4553A= (p.Asn1518=) c.4556A= (p.Asn1519=) c.4430A= (p.Asn1477=) c.4550A= (p.Asn1517=) c.4478A= (p.Asn1493=) c.1244A= (p.Asn415=) c.1106A= (p.Asn369=) c.3668A= (p.Asn1223=) c.4433A= (p.Asn1478=) c.4622A= (p.Asn1541=) c.4415A= (p.Asn1472=) c.1118A= (p.Asn373=) c.1163A= (p.Asn388=) c.4619A= (p.Asn1540=) c.943A= c.1130A= (p.Asn377=) c.4339A= (n.4339A=) c.869A= (p.Asn290=) c.5-10499A= (n.5-10499A=) c.29A= (p.Asn10=) c.-98-24260A= (n.-98-24260A=) n.4692A= n.4733A=
17	g.43074451T>A	CA10592406	BRCA1	c.4552A>T (p.Asn1518Tyr) c.4555A>T (p.Asn1519Tyr) c.4429A>T (p.Asn1477Tyr) c.4549A>T (p.Asn1517Tyr) c.4477A>T (p.Asn1493Tyr) c.1243A>T (p.Asn415Tyr) c.1105A>T (p.Asn369Tyr) c.3667A>T (p.Asn1223Tyr) c.4432A>T (p.Asn1478Tyr) c.4621A>T (p.Asn1541Tyr) c.4414A>T (p.Asn1472Tyr) c.1117A>T (p.Asn373Tyr) c.1162A>T (p.Asn388Tyr) c.4618A>T (p.Asn1540Tyr) c.942A>T c.1129A>T (p.Asn377Tyr) c.4338A>T (n.4338A>T) c.868A>T (p.Asn290Tyr) c.5-10500A>T (n.5-10500A>T) c.28A>T (p.Asn10Tyr) c.-98-24261A>T (n.-98-24261A>T) n.4691A>T n.4732A>T
17	g.43074451T>C	CA10592407	BRCA1	c.4552A>G (p.Asn1518Asp) c.4555A>G (p.Asn1519Asp) c.4429A>G (p.Asn1477Asp) c.4549A>G (p.Asn1517Asp) c.4477A>G (p.Asn1493Asp) c.1243A>G (p.Asn415Asp) c.1105A>G (p.Asn369Asp) c.3667A>G (p.Asn1223Asp) c.4432A>G (p.Asn1478Asp) c.4621A>G (p.Asn1541Asp) c.4414A>G (p.Asn1472Asp) c.1117A>G (p.Asn373Asp) c.1162A>G (p.Asn388Asp) c.4618A>G (p.Asn1540Asp) c.942A>G c.1129A>G (p.Asn377Asp) c.4338A>G (n.4338A>G) c.868A>G (p.Asn290Asp) c.5-10500A>G (n.5-10500A>G) c.28A>G (p.Asn10Asp) c.-98-24261A>G (n.-98-24261A>G) n.4691A>G n.4732A>G	ClinVar dbSNP
17	g.43074451T>G	CA10592408	BRCA1	c.4552A>C (p.Asn1518His) c.4555A>C (p.Asn1519His) c.4429A>C (p.Asn1477His) c.4549A>C (p.Asn1517His) c.4477A>C (p.Asn1493His) c.1243A>C (p.Asn415His) c.1105A>C (p.Asn369His) c.3667A>C (p.Asn1223His) c.4432A>C (p.Asn1478His) c.4621A>C (p.Asn1541His) c.4414A>C (p.Asn1472His) c.1117A>C (p.Asn373His) c.1162A>C (p.Asn388His) c.4618A>C (p.Asn1540His) c.942A>C c.1129A>C (p.Asn377His) c.4338A>C (n.4338A>C) c.868A>C (p.Asn290His) c.5-10500A>C (n.5-10500A>C) c.28A>C (p.Asn10His) c.-98-24261A>C (n.-98-24261A>C) n.4691A>C n.4732A>C
17	g.43074451T=	CA2260774525	BRCA1	c.4552A= (p.Asn1518=) c.4555A= (p.Asn1519=) c.4429A= (p.Asn1477=) c.4549A= (p.Asn1517=) c.4477A= (p.Asn1493=) c.1243A= (p.Asn415=) c.1105A= (p.Asn369=) c.3667A= (p.Asn1223=) c.4432A= (p.Asn1478=) c.4621A= (p.Asn1541=) c.4414A= (p.Asn1472=) c.1117A= (p.Asn373=) c.1162A= (p.Asn388=) c.4618A= (p.Asn1540=) c.942A= c.1129A= (p.Asn377=) c.4338A= (n.4338A=) c.868A= (p.Asn290=) c.5-10500A= (n.5-10500A=) c.28A= (p.Asn10=) c.-98-24261A= (n.-98-24261A=) n.4691A= n.4732A=
17	g.43074452del	CA2580612640	BRCA1	c.4551del (p.Asn1518IlefsTer29) c.4554del (p.Asn1519IlefsTer29) c.4428del (p.Asn1477IlefsTer29) c.4548del (p.Asn1517IlefsTer29) c.4476del (p.Asn1493IlefsTer29) c.1242del (p.Asn415IlefsTer29) c.1104del (p.Asn369IlefsTer29) c.3666del (p.Asn1223IlefsTer29) c.4431del (p.Asn1478IlefsTer29) c.4620del (p.Asn1541IlefsTer29) c.4413del (p.Asn1472IlefsTer29) c.1116del (p.Asn373IlefsTer29) c.1161del (p.Asn388IlefsTer29) c.4617del (p.Asn1540IlefsTer29) c.941del c.1128del (p.Asn377IlefsTer29) c.4337del (n.4337del) c.867del (p.Asn290IlefsTer29) c.5-10501del (n.5-10501del) c.27del (p.Asn10IlefsTer29) c.-98-24262del (n.-98-24262del) n.4690del n.4731del	ClinVar
17	g.43074452C>A	CA10592409	BRCA1	c.4551G>T (p.Gln1517His) c.4554G>T (p.Gln1518His) c.4428G>T (p.Gln1476His) c.4548G>T (p.Gln1516His) c.4476G>T (p.Gln1492His) c.1242G>T (p.Gln414His) c.1104G>T (p.Gln368His) c.3666G>T (p.Gln1222His) c.4431G>T (p.Gln1477His) c.4620G>T (p.Gln1540His) c.4413G>T (p.Gln1471His) c.1116G>T (p.Gln372His) c.1161G>T (p.Gln387His) c.4617G>T (p.Gln1539His) c.941G>T c.1128G>T (p.Gln376His) c.4337G>T (n.4337G>T) c.867G>T (p.Gln289His) c.5-10501G>T (n.5-10501G>T) c.27G>T (p.Gln9His) c.-98-24262G>T (n.-98-24262G>T) n.4690G>T n.4731G>T	dbSNP
17	g.43074452C=	CA2260774526	BRCA1	c.4551G= (p.Gln1517=) c.4554G= (p.Gln1518=) c.4428G= (p.Gln1476=) c.4548G= (p.Gln1516=) c.4476G= (p.Gln1492=) c.1242G= (p.Gln414=) c.1104G= (p.Gln368=) c.3666G= (p.Gln1222=) c.4431G= (p.Gln1477=) c.4620G= (p.Gln1540=) c.4413G= (p.Gln1471=) c.1116G= (p.Gln372=) c.1161G= (p.Gln387=) c.4617G= (p.Gln1539=) c.941G= c.1128G= (p.Gln376=) c.4337G= (n.4337G=) c.867G= (p.Gln289=) c.5-10501G= (n.5-10501G=) c.27G= (p.Gln9=) c.-98-24262G= (n.-98-24262G=) n.4690G= n.4731G=
17	g.43074452C>G	CA10592410	BRCA1	c.4551G>C (p.Gln1517His) c.4554G>C (p.Gln1518His) c.4428G>C (p.Gln1476His) c.4548G>C (p.Gln1516His) c.4476G>C (p.Gln1492His) c.1242G>C (p.Gln414His) c.1104G>C (p.Gln368His) c.3666G>C (p.Gln1222His) c.4431G>C (p.Gln1477His) c.4620G>C (p.Gln1540His) c.4413G>C (p.Gln1471His) c.1116G>C (p.Gln372His) c.1161G>C (p.Gln387His) c.4617G>C (p.Gln1539His) c.941G>C c.1128G>C (p.Gln376His) c.4337G>C (n.4337G>C) c.867G>C (p.Gln289His) c.5-10501G>C (n.5-10501G>C) c.27G>C (p.Gln9His) c.-98-24262G>C (n.-98-24262G>C) n.4690G>C n.4731G>C	ClinVar dbSNP
17	g.43074452C>T	CA002903	BRCA1	c.4551G>A (p.Gln1517=) c.4554G>A (p.Gln1518=) c.4428G>A (p.Gln1476=) c.4548G>A (p.Gln1516=) c.4476G>A (p.Gln1492=) c.1242G>A (p.Gln414=) c.1104G>A (p.Gln368=) c.3666G>A (p.Gln1222=) c.4431G>A (p.Gln1477=) c.4620G>A (p.Gln1540=) c.4413G>A (p.Gln1471=) c.1116G>A (p.Gln372=) c.1161G>A (p.Gln387=) c.4617G>A (p.Gln1539=) c.941G>A c.1128G>A (p.Gln376=) c.4337G>A (n.4337G>A) c.867G>A (p.Gln289=) c.5-10501G>A (n.5-10501G>A) c.27G>A (p.Gln9=) c.-98-24262G>A (n.-98-24262G>A) n.4690G>A n.4731G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.43074453T>A	CA10592411	BRCA1	c.4550A>T (p.Gln1517Leu) c.4553A>T (p.Gln1518Leu) c.4427A>T (p.Gln1476Leu) c.4547A>T (p.Gln1516Leu) c.4475A>T (p.Gln1492Leu) c.1241A>T (p.Gln414Leu) c.1103A>T (p.Gln368Leu) c.3665A>T (p.Gln1222Leu) c.4430A>T (p.Gln1477Leu) c.4619A>T (p.Gln1540Leu) c.4412A>T (p.Gln1471Leu) c.1115A>T (p.Gln372Leu) c.1160A>T (p.Gln387Leu) c.4616A>T (p.Gln1539Leu) c.940A>T c.1127A>T (p.Gln376Leu) c.4336A>T (n.4336A>T) c.866A>T (p.Gln289Leu) c.5-10502A>T (n.5-10502A>T) c.26A>T (p.Gln9Leu) c.-98-24263A>T (n.-98-24263A>T) n.4689A>T n.4730A>T	dbSNP
17	g.43074453T>C	CA10592412	BRCA1	c.4550A>G (p.Gln1517Arg) c.4553A>G (p.Gln1518Arg) c.4427A>G (p.Gln1476Arg) c.4547A>G (p.Gln1516Arg) c.4475A>G (p.Gln1492Arg) c.1241A>G (p.Gln414Arg) c.1103A>G (p.Gln368Arg) c.3665A>G (p.Gln1222Arg) c.4430A>G (p.Gln1477Arg) c.4619A>G (p.Gln1540Arg) c.4412A>G (p.Gln1471Arg) c.1115A>G (p.Gln372Arg) c.1160A>G (p.Gln387Arg) c.4616A>G (p.Gln1539Arg) c.940A>G c.1127A>G (p.Gln376Arg) c.4336A>G (n.4336A>G) c.866A>G (p.Gln289Arg) c.5-10502A>G (n.5-10502A>G) c.26A>G (p.Gln9Arg) c.-98-24263A>G (n.-98-24263A>G) n.4689A>G n.4730A>G	ClinVar dbSNP
17	g.43074453T>G	CA10592413	BRCA1	c.4550A>C (p.Gln1517Pro) c.4553A>C (p.Gln1518Pro) c.4427A>C (p.Gln1476Pro) c.4547A>C (p.Gln1516Pro) c.4475A>C (p.Gln1492Pro) c.1241A>C (p.Gln414Pro) c.1103A>C (p.Gln368Pro) c.3665A>C (p.Gln1222Pro) c.4430A>C (p.Gln1477Pro) c.4619A>C (p.Gln1540Pro) c.4412A>C (p.Gln1471Pro) c.1115A>C (p.Gln372Pro) c.1160A>C (p.Gln387Pro) c.4616A>C (p.Gln1539Pro) c.940A>C c.1127A>C (p.Gln376Pro) c.4336A>C (n.4336A>C) c.866A>C (p.Gln289Pro) c.5-10502A>C (n.5-10502A>C) c.26A>C (p.Gln9Pro) c.-98-24263A>C (n.-98-24263A>C) n.4689A>C n.4730A>C
17	g.43074454G>A	CA002902	BRCA1	c.4549C>T (p.Gln1517Ter) c.4552C>T (p.Gln1518Ter) c.4426C>T (p.Gln1476Ter) c.4546C>T (p.Gln1516Ter) c.4474C>T (p.Gln1492Ter) c.1240C>T (p.Gln414Ter) c.1102C>T (p.Gln368Ter) c.3664C>T (p.Gln1222Ter) c.4429C>T (p.Gln1477Ter) c.4618C>T (p.Gln1540Ter) c.4411C>T (p.Gln1471Ter) c.1114C>T (p.Gln372Ter) c.1159C>T (p.Gln387Ter) c.4615C>T (p.Gln1539Ter) c.939C>T c.1126C>T (p.Gln376Ter) c.4335C>T (n.4335C>T) c.865C>T (p.Gln289Ter) c.5-10503C>T (n.5-10503C>T) c.25C>T (p.Gln9Ter) c.-98-24264C>T (n.-98-24264C>T) n.4688C>T n.4729C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.43074454G>C	CA348901	BRCA1	c.4549C>G (p.Gln1517Glu) c.4552C>G (p.Gln1518Glu) c.4426C>G (p.Gln1476Glu) c.4546C>G (p.Gln1516Glu) c.4474C>G (p.Gln1492Glu) c.1240C>G (p.Gln414Glu) c.1102C>G (p.Gln368Glu) c.3664C>G (p.Gln1222Glu) c.4429C>G (p.Gln1477Glu) c.4618C>G (p.Gln1540Glu) c.4411C>G (p.Gln1471Glu) c.1114C>G (p.Gln372Glu) c.1159C>G (p.Gln387Glu) c.4615C>G (p.Gln1539Glu) c.939C>G c.1126C>G (p.Gln376Glu) c.4335C>G (n.4335C>G) c.865C>G (p.Gln289Glu) c.5-10503C>G (n.5-10503C>G) c.25C>G (p.Gln9Glu) c.-98-24264C>G (n.-98-24264C>G) n.4688C>G n.4729C>G	ClinVar dbSNP gnomAD v4
17	g.43074454G=	CA2260774527	BRCA1	c.4549C= (p.Gln1517=) c.4552C= (p.Gln1518=) c.4426C= (p.Gln1476=) c.4546C= (p.Gln1516=) c.4474C= (p.Gln1492=) c.1240C= (p.Gln414=) c.1102C= (p.Gln368=) c.3664C= (p.Gln1222=) c.4429C= (p.Gln1477=) c.4618C= (p.Gln1540=) c.4411C= (p.Gln1471=) c.1114C= (p.Gln372=) c.1159C= (p.Gln387=) c.4615C= (p.Gln1539=) c.939C= c.1126C= (p.Gln376=) c.4335C= (n.4335C=) c.865C= (p.Gln289=) c.5-10503C= (n.5-10503C=) c.25C= (p.Gln9=) c.-98-24264C= (n.-98-24264C=) n.4688C= n.4729C=
17	g.43074454G>T	CA10580518	BRCA1	c.4549C>A (p.Gln1517Lys) c.4552C>A (p.Gln1518Lys) c.4426C>A (p.Gln1476Lys) c.4546C>A (p.Gln1516Lys) c.4474C>A (p.Gln1492Lys) c.1240C>A (p.Gln414Lys) c.1102C>A (p.Gln368Lys) c.3664C>A (p.Gln1222Lys) c.4429C>A (p.Gln1477Lys) c.4618C>A (p.Gln1540Lys) c.4411C>A (p.Gln1471Lys) c.1114C>A (p.Gln372Lys) c.1159C>A (p.Gln387Lys) c.4615C>A (p.Gln1539Lys) c.939C>A c.1126C>A (p.Gln376Lys) c.4335C>A (n.4335C>A) c.865C>A (p.Gln289Lys) c.5-10503C>A (n.5-10503C>A) c.25C>A (p.Gln9Lys) c.-98-24264C>A (n.-98-24264C>A) n.4688C>A n.4729C>A	ClinVar dbSNP gnomAD v4
17	g.43074455A>C	CA500146626	BRCA1	c.4548T>G (p.Leu1516=) c.4551T>G (p.Leu1517=) c.4425T>G (p.Leu1475=) c.4545T>G (p.Leu1515=) c.4473T>G (p.Leu1491=) c.1239T>G (p.Leu413=) c.1101T>G (p.Leu367=) c.3663T>G (p.Leu1221=) c.4428T>G (p.Leu1476=) c.4617T>G (p.Leu1539=) c.4410T>G (p.Leu1470=) c.1113T>G (p.Leu371=) c.1158T>G (p.Leu386=) c.4614T>G (p.Leu1538=) c.938T>G c.1125T>G (p.Leu375=) c.4334T>G (n.4334T>G) c.864T>G (p.Leu288=) c.5-10504T>G (n.5-10504T>G) c.24T>G (p.Leu8=) c.-98-24265T>G (n.-98-24265T>G) n.4687T>G n.4728T>G
17	g.43074455A>G	CA500146628	BRCA1	c.4548T>C (p.Leu1516=) c.4551T>C (p.Leu1517=) c.4425T>C (p.Leu1475=) c.4545T>C (p.Leu1515=) c.4473T>C (p.Leu1491=) c.1239T>C (p.Leu413=) c.1101T>C (p.Leu367=) c.3663T>C (p.Leu1221=) c.4428T>C (p.Leu1476=) c.4617T>C (p.Leu1539=) c.4410T>C (p.Leu1470=) c.1113T>C (p.Leu371=) c.1158T>C (p.Leu386=) c.4614T>C (p.Leu1538=) c.938T>C c.1125T>C (p.Leu375=) c.4334T>C (n.4334T>C) c.864T>C (p.Leu288=) c.5-10504T>C (n.5-10504T>C) c.24T>C (p.Leu8=) c.-98-24265T>C (n.-98-24265T>C) n.4687T>C n.4728T>C	dbSNP
17	g.43074455A>T	CA500146630	BRCA1	c.4548T>A (p.Leu1516=) c.4551T>A (p.Leu1517=) c.4425T>A (p.Leu1475=) c.4545T>A (p.Leu1515=) c.4473T>A (p.Leu1491=) c.1239T>A (p.Leu413=) c.1101T>A (p.Leu367=) c.3663T>A (p.Leu1221=) c.4428T>A (p.Leu1476=) c.4617T>A (p.Leu1539=) c.4410T>A (p.Leu1470=) c.1113T>A (p.Leu371=) c.1158T>A (p.Leu386=) c.4614T>A (p.Leu1538=) c.938T>A c.1125T>A (p.Leu375=) c.4334T>A (n.4334T>A) c.864T>A (p.Leu288=) c.5-10504T>A (n.5-10504T>A) c.24T>A (p.Leu8=) c.-98-24265T>A (n.-98-24265T>A) n.4687T>A n.4728T>A	dbSNP
17	g.43074456A=	CA2260774528	BRCA1	c.4547T= (p.Leu1516=) c.4550T= (p.Leu1517=) c.4424T= (p.Leu1475=) c.4544T= (p.Leu1515=) c.4472T= (p.Leu1491=) c.1238T= (p.Leu413=) c.1100T= (p.Leu367=) c.3662T= (p.Leu1221=) c.4427T= (p.Leu1476=) c.4616T= (p.Leu1539=) c.4409T= (p.Leu1470=) c.1112T= (p.Leu371=) c.1157T= (p.Leu386=) c.4613T= (p.Leu1538=) c.937T= c.1124T= (p.Leu375=) c.4333T= (n.4333T=) c.863T= (p.Leu288=) c.5-10505T= (n.5-10505T=) c.23T= (p.Leu8=) c.-98-24266T= (n.-98-24266T=) n.4686T= n.4727T=
17	g.43074456A>C	CA10592414	BRCA1	c.4547T>G (p.Leu1516Arg) c.4550T>G (p.Leu1517Arg) c.4424T>G (p.Leu1475Arg) c.4544T>G (p.Leu1515Arg) c.4472T>G (p.Leu1491Arg) c.1238T>G (p.Leu413Arg) c.1100T>G (p.Leu367Arg) c.3662T>G (p.Leu1221Arg) c.4427T>G (p.Leu1476Arg) c.4616T>G (p.Leu1539Arg) c.4409T>G (p.Leu1470Arg) c.1112T>G (p.Leu371Arg) c.1157T>G (p.Leu386Arg) c.4613T>G (p.Leu1538Arg) c.937T>G c.1124T>G (p.Leu375Arg) c.4333T>G (n.4333T>G) c.863T>G (p.Leu288Arg) c.5-10505T>G (n.5-10505T>G) c.23T>G (p.Leu8Arg) c.-98-24266T>G (n.-98-24266T>G) n.4686T>G n.4727T>G
17	g.43074456A>G	CA10592415	BRCA1	c.4547T>C (p.Leu1516Pro) c.4550T>C (p.Leu1517Pro) c.4424T>C (p.Leu1475Pro) c.4544T>C (p.Leu1515Pro) c.4472T>C (p.Leu1491Pro) c.1238T>C (p.Leu413Pro) c.1100T>C (p.Leu367Pro) c.3662T>C (p.Leu1221Pro) c.4427T>C (p.Leu1476Pro) c.4616T>C (p.Leu1539Pro) c.4409T>C (p.Leu1470Pro) c.1112T>C (p.Leu371Pro) c.1157T>C (p.Leu386Pro) c.4613T>C (p.Leu1538Pro) c.937T>C c.1124T>C (p.Leu375Pro) c.4333T>C (n.4333T>C) c.863T>C (p.Leu288Pro) c.5-10505T>C (n.5-10505T>C) c.23T>C (p.Leu8Pro) c.-98-24266T>C (n.-98-24266T>C) n.4686T>C n.4727T>C	ClinVar dbSNP
17	g.43074456A>T	CA10592416	BRCA1	c.4547T>A (p.Leu1516His) c.4550T>A (p.Leu1517His) c.4424T>A (p.Leu1475His) c.4544T>A (p.Leu1515His) c.4472T>A (p.Leu1491His) c.1238T>A (p.Leu413His) c.1100T>A (p.Leu367His) c.3662T>A (p.Leu1221His) c.4427T>A (p.Leu1476His) c.4616T>A (p.Leu1539His) c.4409T>A (p.Leu1470His) c.1112T>A (p.Leu371His) c.1157T>A (p.Leu386His) c.4613T>A (p.Leu1538His) c.937T>A c.1124T>A (p.Leu375His) c.4333T>A (n.4333T>A) c.863T>A (p.Leu288His) c.5-10505T>A (n.5-10505T>A) c.23T>A (p.Leu8His) c.-98-24266T>A (n.-98-24266T>A) n.4686T>A n.4727T>A	dbSNP
17	g.43074457G>A	CA052506	BRCA1	c.4546C>T (p.Leu1516Phe) c.4549C>T (p.Leu1517Phe) c.4423C>T (p.Leu1475Phe) c.4543C>T (p.Leu1515Phe) c.4471C>T (p.Leu1491Phe) c.1237C>T (p.Leu413Phe) c.1099C>T (p.Leu367Phe) c.3661C>T (p.Leu1221Phe) c.4426C>T (p.Leu1476Phe) c.4615C>T (p.Leu1539Phe) c.4408C>T (p.Leu1470Phe) c.1111C>T (p.Leu371Phe) c.1156C>T (p.Leu386Phe) c.4612C>T (p.Leu1538Phe) c.936C>T c.1123C>T (p.Leu375Phe) c.4332C>T (n.4332C>T) c.862C>T (p.Leu288Phe) c.5-10506C>T (n.5-10506C>T) c.22C>T (p.Leu8Phe) c.-98-24267C>T (n.-98-24267C>T) n.4685C>T n.4726C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43074457G>C	CA10592417	BRCA1	c.4546C>G (p.Leu1516Val) c.4549C>G (p.Leu1517Val) c.4423C>G (p.Leu1475Val) c.4543C>G (p.Leu1515Val) c.4471C>G (p.Leu1491Val) c.1237C>G (p.Leu413Val) c.1099C>G (p.Leu367Val) c.3661C>G (p.Leu1221Val) c.4426C>G (p.Leu1476Val) c.4615C>G (p.Leu1539Val) c.4408C>G (p.Leu1470Val) c.1111C>G (p.Leu371Val) c.1156C>G (p.Leu386Val) c.4612C>G (p.Leu1538Val) c.936C>G c.1123C>G (p.Leu375Val) c.4332C>G (n.4332C>G) c.862C>G (p.Leu288Val) c.5-10506C>G (n.5-10506C>G) c.22C>G (p.Leu8Val) c.-98-24267C>G (n.-98-24267C>G) n.4685C>G n.4726C>G	ClinVar dbSNP
17	g.43074457G=	CA2260774529	BRCA1	c.4546C= (p.Leu1516=) c.4549C= (p.Leu1517=) c.4423C= (p.Leu1475=) c.4543C= (p.Leu1515=) c.4471C= (p.Leu1491=) c.1237C= (p.Leu413=) c.1099C= (p.Leu367=) c.3661C= (p.Leu1221=) c.4426C= (p.Leu1476=) c.4615C= (p.Leu1539=) c.4408C= (p.Leu1470=) c.1111C= (p.Leu371=) c.1156C= (p.Leu386=) c.4612C= (p.Leu1538=) c.936C= c.1123C= (p.Leu375=) c.4332C= (n.4332C=) c.862C= (p.Leu288=) c.5-10506C= (n.5-10506C=) c.22C= (p.Leu8=) c.-98-24267C= (n.-98-24267C=) n.4685C= n.4726C=
17	g.43074457G>T	CA10592418	BRCA1	c.4546C>A (p.Leu1516Ile) c.4549C>A (p.Leu1517Ile) c.4423C>A (p.Leu1475Ile) c.4543C>A (p.Leu1515Ile) c.4471C>A (p.Leu1491Ile) c.1237C>A (p.Leu413Ile) c.1099C>A (p.Leu367Ile) c.3661C>A (p.Leu1221Ile) c.4426C>A (p.Leu1476Ile) c.4615C>A (p.Leu1539Ile) c.4408C>A (p.Leu1470Ile) c.1111C>A (p.Leu371Ile) c.1156C>A (p.Leu386Ile) c.4612C>A (p.Leu1538Ile) c.936C>A c.1123C>A (p.Leu375Ile) c.4332C>A (n.4332C>A) c.862C>A (p.Leu288Ile) c.5-10506C>A (n.5-10506C>A) c.22C>A (p.Leu8Ile) c.-98-24267C>A (n.-98-24267C>A) n.4685C>A n.4726C>A	ClinVar dbSNP
17	g.43074458A>C	CA10592419	BRCA1	c.4545T>G (p.Ser1515Arg) c.4548T>G (p.Ser1516Arg) c.4422T>G (p.Ser1474Arg) c.4542T>G (p.Ser1514Arg) c.4470T>G (p.Ser1490Arg) c.1236T>G (p.Ser412Arg) c.1098T>G (p.Ser366Arg) c.3660T>G (p.Ser1220Arg) c.4425T>G (p.Ser1475Arg) c.4614T>G (p.Ser1538Arg) c.4407T>G (p.Ser1469Arg) c.1110T>G (p.Ser370Arg) c.1155T>G (p.Ser385Arg) c.4611T>G (p.Ser1537Arg) c.935T>G c.1122T>G (p.Ser374Arg) c.4331T>G (n.4331T>G) c.861T>G (p.Ser287Arg) c.5-10507T>G (n.5-10507T>G) c.21T>G (p.Ser7Arg) c.-98-24268T>G (n.-98-24268T>G) n.4684T>G n.4725T>G	dbSNP
17	g.43074458A>G	CA500146632	BRCA1	c.4545T>C (p.Ser1515=) c.4548T>C (p.Ser1516=) c.4422T>C (p.Ser1474=) c.4542T>C (p.Ser1514=) c.4470T>C (p.Ser1490=) c.1236T>C (p.Ser412=) c.1098T>C (p.Ser366=) c.3660T>C (p.Ser1220=) c.4425T>C (p.Ser1475=) c.4614T>C (p.Ser1538=) c.4407T>C (p.Ser1469=) c.1110T>C (p.Ser370=) c.1155T>C (p.Ser385=) c.4611T>C (p.Ser1537=) c.935T>C c.1122T>C (p.Ser374=) c.4331T>C (n.4331T>C) c.861T>C (p.Ser287=) c.5-10507T>C (n.5-10507T>C) c.21T>C (p.Ser7=) c.-98-24268T>C (n.-98-24268T>C) n.4684T>C n.4725T>C	dbSNP
17	g.43074458A>T	CA10592420	BRCA1	c.4545T>A (p.Ser1515Arg) c.4548T>A (p.Ser1516Arg) c.4422T>A (p.Ser1474Arg) c.4542T>A (p.Ser1514Arg) c.4470T>A (p.Ser1490Arg) c.1236T>A (p.Ser412Arg) c.1098T>A (p.Ser366Arg) c.3660T>A (p.Ser1220Arg) c.4425T>A (p.Ser1475Arg) c.4614T>A (p.Ser1538Arg) c.4407T>A (p.Ser1469Arg) c.1110T>A (p.Ser370Arg) c.1155T>A (p.Ser385Arg) c.4611T>A (p.Ser1537Arg) c.935T>A c.1122T>A (p.Ser374Arg) c.4331T>A (n.4331T>A) c.861T>A (p.Ser287Arg) c.5-10507T>A (n.5-10507T>A) c.21T>A (p.Ser7Arg) c.-98-24268T>A (n.-98-24268T>A) n.4684T>A n.4725T>A	dbSNP
17	g.43074459C>A	CA10592421	BRCA1	c.4544G>T (p.Ser1515Ile) c.4547G>T (p.Ser1516Ile) c.4421G>T (p.Ser1474Ile) c.4541G>T (p.Ser1514Ile) c.4469G>T (p.Ser1490Ile) c.1235G>T (p.Ser412Ile) c.1097G>T (p.Ser366Ile) c.3659G>T (p.Ser1220Ile) c.4424G>T (p.Ser1475Ile) c.4613G>T (p.Ser1538Ile) c.4406G>T (p.Ser1469Ile) c.1109G>T (p.Ser370Ile) c.1154G>T (p.Ser385Ile) c.4610G>T (p.Ser1537Ile) c.934G>T c.1121G>T (p.Ser374Ile) c.4330G>T (n.4330G>T) c.860G>T (p.Ser287Ile) c.5-10508G>T (n.5-10508G>T) c.20G>T (p.Ser7Ile) c.-98-24269G>T (n.-98-24269G>T) n.4683G>T n.4724G>T
17	g.43074459C>G	CA10592422	BRCA1	c.4544G>C (p.Ser1515Thr) c.4547G>C (p.Ser1516Thr) c.4421G>C (p.Ser1474Thr) c.4541G>C (p.Ser1514Thr) c.4469G>C (p.Ser1490Thr) c.1235G>C (p.Ser412Thr) c.1097G>C (p.Ser366Thr) c.3659G>C (p.Ser1220Thr) c.4424G>C (p.Ser1475Thr) c.4613G>C (p.Ser1538Thr) c.4406G>C (p.Ser1469Thr) c.1109G>C (p.Ser370Thr) c.1154G>C (p.Ser385Thr) c.4610G>C (p.Ser1537Thr) c.934G>C c.1121G>C (p.Ser374Thr) c.4330G>C (n.4330G>C) c.860G>C (p.Ser287Thr) c.5-10508G>C (n.5-10508G>C) c.20G>C (p.Ser7Thr) c.-98-24269G>C (n.-98-24269G>C) n.4683G>C n.4724G>C	dbSNP
17	g.43074459C>T	CA10592423	BRCA1	c.4544G>A (p.Ser1515Asn) c.4547G>A (p.Ser1516Asn) c.4421G>A (p.Ser1474Asn) c.4541G>A (p.Ser1514Asn) c.4469G>A (p.Ser1490Asn) c.1235G>A (p.Ser412Asn) c.1097G>A (p.Ser366Asn) c.3659G>A (p.Ser1220Asn) c.4424G>A (p.Ser1475Asn) c.4613G>A (p.Ser1538Asn) c.4406G>A (p.Ser1469Asn) c.1109G>A (p.Ser370Asn) c.1154G>A (p.Ser385Asn) c.4610G>A (p.Ser1537Asn) c.934G>A c.1121G>A (p.Ser374Asn) c.4330G>A (n.4330G>A) c.860G>A (p.Ser287Asn) c.5-10508G>A (n.5-10508G>A) c.20G>A (p.Ser7Asn) c.-98-24269G>A (n.-98-24269G>A) n.4683G>A n.4724G>A	ClinVar
17	g.43074460T>A	CA10592424	BRCA1	c.4543A>T (p.Ser1515Cys) c.4546A>T (p.Ser1516Cys) c.4420A>T (p.Ser1474Cys) c.4540A>T (p.Ser1514Cys) c.4468A>T (p.Ser1490Cys) c.1234A>T (p.Ser412Cys) c.1096A>T (p.Ser366Cys) c.3658A>T (p.Ser1220Cys) c.4423A>T (p.Ser1475Cys) c.4612A>T (p.Ser1538Cys) c.4405A>T (p.Ser1469Cys) c.1108A>T (p.Ser370Cys) c.1153A>T (p.Ser385Cys) c.4609A>T (p.Ser1537Cys) c.933A>T c.1120A>T (p.Ser374Cys) c.4329A>T (n.4329A>T) c.859A>T (p.Ser287Cys) c.5-10509A>T (n.5-10509A>T) c.19A>T (p.Ser7Cys) c.-98-24270A>T (n.-98-24270A>T) n.4682A>T n.4723A>T
17	g.43074460T>C	CA10592425	BRCA1	c.4543A>G (p.Ser1515Gly) c.4546A>G (p.Ser1516Gly) c.4420A>G (p.Ser1474Gly) c.4540A>G (p.Ser1514Gly) c.4468A>G (p.Ser1490Gly) c.1234A>G (p.Ser412Gly) c.1096A>G (p.Ser366Gly) c.3658A>G (p.Ser1220Gly) c.4423A>G (p.Ser1475Gly) c.4612A>G (p.Ser1538Gly) c.4405A>G (p.Ser1469Gly) c.1108A>G (p.Ser370Gly) c.1153A>G (p.Ser385Gly) c.4609A>G (p.Ser1537Gly) c.933A>G c.1120A>G (p.Ser374Gly) c.4329A>G (n.4329A>G) c.859A>G (p.Ser287Gly) c.5-10509A>G (n.5-10509A>G) c.19A>G (p.Ser7Gly) c.-98-24270A>G (n.-98-24270A>G) n.4682A>G n.4723A>G
17	g.43074460T>G	CA10592426	BRCA1	c.4543A>C (p.Ser1515Arg) c.4546A>C (p.Ser1516Arg) c.4420A>C (p.Ser1474Arg) c.4540A>C (p.Ser1514Arg) c.4468A>C (p.Ser1490Arg) c.1234A>C (p.Ser412Arg) c.1096A>C (p.Ser366Arg) c.3658A>C (p.Ser1220Arg) c.4423A>C (p.Ser1475Arg) c.4612A>C (p.Ser1538Arg) c.4405A>C (p.Ser1469Arg) c.1108A>C (p.Ser370Arg) c.1153A>C (p.Ser385Arg) c.4609A>C (p.Ser1537Arg) c.933A>C c.1120A>C (p.Ser374Arg) c.4329A>C (n.4329A>C) c.859A>C (p.Ser287Arg) c.5-10509A>C (n.5-10509A>C) c.19A>C (p.Ser7Arg) c.-98-24270A>C (n.-98-24270A>C) n.4682A>C n.4723A>C	dbSNP
17	g.43074460T=	CA2260774530	BRCA1	c.4543A= (p.Ser1515=) c.4546A= (p.Ser1516=) c.4420A= (p.Ser1474=) c.4540A= (p.Ser1514=) c.4468A= (p.Ser1490=) c.1234A= (p.Ser412=) c.1096A= (p.Ser366=) c.3658A= (p.Ser1220=) c.4423A= (p.Ser1475=) c.4612A= (p.Ser1538=) c.4405A= (p.Ser1469=) c.1108A= (p.Ser370=) c.1153A= (p.Ser385=) c.4609A= (p.Ser1537=) c.933A= c.1120A= (p.Ser374=) c.4329A= (n.4329A=) c.859A= (p.Ser287=) c.5-10509A= (n.5-10509A=) c.19A= (p.Ser7=) c.-98-24270A= (n.-98-24270A=) n.4682A= n.4723A=
17	g.43074461C>A	CA002900	BRCA1	c.4542G>T (p.Gly1514=) c.4545G>T (p.Gly1515=) c.4419G>T (p.Gly1473=) c.4539G>T (p.Gly1513=) c.4467G>T (p.Gly1489=) c.1233G>T (p.Gly411=) c.1095G>T (p.Gly365=) c.3657G>T (p.Gly1219=) c.4422G>T (p.Gly1474=) c.4611G>T (p.Gly1537=) c.4404G>T (p.Gly1468=) c.1107G>T (p.Gly369=) c.1152G>T (p.Gly384=) c.4608G>T (p.Gly1536=) c.932G>T c.1119G>T (p.Gly373=) c.4328G>T (n.4328G>T) c.858G>T (p.Gly286=) c.5-10510G>T (n.5-10510G>T) c.18G>T (p.Gly6=) c.-98-24271G>T (n.-98-24271G>T) n.4681G>T n.4722G>T	ClinVar dbSNP
17	g.43074461C=	CA2260774531	BRCA1	c.4542G= (p.Gly1514=) c.4545G= (p.Gly1515=) c.4419G= (p.Gly1473=) c.4539G= (p.Gly1513=) c.4467G= (p.Gly1489=) c.1233G= (p.Gly411=) c.1095G= (p.Gly365=) c.3657G= (p.Gly1219=) c.4422G= (p.Gly1474=) c.4611G= (p.Gly1537=) c.4404G= (p.Gly1468=) c.1107G= (p.Gly369=) c.1152G= (p.Gly384=) c.4608G= (p.Gly1536=) c.932G= c.1119G= (p.Gly373=) c.4328G= (n.4328G=) c.858G= (p.Gly286=) c.5-10510G= (n.5-10510G=) c.18G= (p.Gly6=) c.-98-24271G= (n.-98-24271G=) n.4681G= n.4722G=
17	g.43074461C>G	CA500146633	BRCA1	c.4542G>C (p.Gly1514=) c.4545G>C (p.Gly1515=) c.4419G>C (p.Gly1473=) c.4539G>C (p.Gly1513=) c.4467G>C (p.Gly1489=) c.1233G>C (p.Gly411=) c.1095G>C (p.Gly365=) c.3657G>C (p.Gly1219=) c.4422G>C (p.Gly1474=) c.4611G>C (p.Gly1537=) c.4404G>C (p.Gly1468=) c.1107G>C (p.Gly369=) c.1152G>C (p.Gly384=) c.4608G>C (p.Gly1536=) c.932G>C c.1119G>C (p.Gly373=) c.4328G>C (n.4328G>C) c.858G>C (p.Gly286=) c.5-10510G>C (n.5-10510G>C) c.18G>C (p.Gly6=) c.-98-24271G>C (n.-98-24271G>C) n.4681G>C n.4722G>C	dbSNP
17	g.43074461C>T	CA052489	BRCA1	c.4542G>A (p.Gly1514=) c.4545G>A (p.Gly1515=) c.4419G>A (p.Gly1473=) c.4539G>A (p.Gly1513=) c.4467G>A (p.Gly1489=) c.1233G>A (p.Gly411=) c.1095G>A (p.Gly365=) c.3657G>A (p.Gly1219=) c.4422G>A (p.Gly1474=) c.4611G>A (p.Gly1537=) c.4404G>A (p.Gly1468=) c.1107G>A (p.Gly369=) c.1152G>A (p.Gly384=) c.4608G>A (p.Gly1536=) c.932G>A c.1119G>A (p.Gly373=) c.4328G>A (n.4328G>A) c.858G>A (p.Gly286=) c.5-10510G>A (n.5-10510G>A) c.18G>A (p.Gly6=) c.-98-24271G>A (n.-98-24271G>A) n.4681G>A n.4722G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43074462_43074463dup	CA2499224406	BRCA1	c.4541_4542dup (p.Ser1515GlyfsTer?) c.4544_4545dup (p.Ser1516GlyfsTer?) c.4418_4419dup (p.Ser1474GlyfsTer?) c.4538_4539dup (p.Ser1514GlyfsTer?) c.4466_4467dup (p.Ser1490GlyfsTer?) c.1232_1233dup (p.Ser412GlyfsTer?) c.1094_1095dup (p.Ser366GlyfsTer?) c.3656_3657dup (p.Ser1220GlyfsTer?) c.4421_4422dup (p.Ser1475GlyfsTer?) c.4610_4611dup (p.Ser1538GlyfsTer?) c.4403_4404dup (p.Ser1469GlyfsTer?) c.1106_1107dup (p.Ser370GlyfsTer?) c.1151_1152dup (p.Ser385GlyfsTer?) c.4607_4608dup (p.Ser1537GlyfsTer?) c.931_932dup c.1118_1119dup (p.Ser374GlyfsTer?) c.4327_4328dup (n.4327_4328dup) c.857_858dup (p.Ser287GlyfsTer?) c.5-10511_5-10510dup (n.5-10511_5-10510dup) c.17_18dup (p.Ser7GlyfsTer?) c.-98-24272_-98-24271dup (n.-98-24272_-98-24271dup) n.4680_4681dup n.4721_4722dup	ClinVar dbSNP
17	g.43074463del	CA2586963909	BRCA1	c.4542del (p.Ser1515ValfsTer?) c.4545del (p.Ser1516ValfsTer?) c.4419del (p.Ser1474ValfsTer?) c.4539del (p.Ser1514ValfsTer?) c.4467del (p.Ser1490ValfsTer?) c.1233del (p.Ser412ValfsTer?) c.1095del (p.Ser366ValfsTer?) c.3657del (p.Ser1220ValfsTer?) c.4422del (p.Ser1475ValfsTer?) c.4611del (p.Ser1538ValfsTer?) c.4404del (p.Ser1469ValfsTer?) c.1107del (p.Ser370ValfsTer?) c.1152del (p.Ser385ValfsTer?) c.4608del (p.Ser1537ValfsTer?) c.932del c.1119del (p.Ser374ValfsTer?) c.4328del (n.4328del) c.858del (p.Ser287ValfsTer?) c.5-10510del (n.5-10510del) c.18del (p.Ser7ValfsTer?) c.-98-24271del (n.-98-24271del) n.4681del n.4722del
17	g.43074462C>A	CA10592427	BRCA1	c.4541G>T (p.Gly1514Val) c.4544G>T (p.Gly1515Val) c.4418G>T (p.Gly1473Val) c.4538G>T (p.Gly1513Val) c.4466G>T (p.Gly1489Val) c.1232G>T (p.Gly411Val) c.1094G>T (p.Gly365Val) c.3656G>T (p.Gly1219Val) c.4421G>T (p.Gly1474Val) c.4610G>T (p.Gly1537Val) c.4403G>T (p.Gly1468Val) c.1106G>T (p.Gly369Val) c.1151G>T (p.Gly384Val) c.4607G>T (p.Gly1536Val) c.931G>T c.1118G>T (p.Gly373Val) c.4327G>T (n.4327G>T) c.857G>T (p.Gly286Val) c.5-10511G>T (n.5-10511G>T) c.17G>T (p.Gly6Val) c.-98-24272G>T (n.-98-24272G>T) n.4680G>T n.4721G>T	dbSNP
17	g.43074462C=	CA2260774532	BRCA1	c.4541G= (p.Gly1514=) c.4544G= (p.Gly1515=) c.4418G= (p.Gly1473=) c.4538G= (p.Gly1513=) c.4466G= (p.Gly1489=) c.1232G= (p.Gly411=) c.1094G= (p.Gly365=) c.3656G= (p.Gly1219=) c.4421G= (p.Gly1474=) c.4610G= (p.Gly1537=) c.4403G= (p.Gly1468=) c.1106G= (p.Gly369=) c.1151G= (p.Gly384=) c.4607G= (p.Gly1536=) c.931G= c.1118G= (p.Gly373=) c.4327G= (n.4327G=) c.857G= (p.Gly286=) c.5-10511G= (n.5-10511G=) c.17G= (p.Gly6=) c.-98-24272G= (n.-98-24272G=) n.4680G= n.4721G=
17	g.43074462C>G	CA10592428	BRCA1	c.4541G>C (p.Gly1514Ala) c.4544G>C (p.Gly1515Ala) c.4418G>C (p.Gly1473Ala) c.4538G>C (p.Gly1513Ala) c.4466G>C (p.Gly1489Ala) c.1232G>C (p.Gly411Ala) c.1094G>C (p.Gly365Ala) c.3656G>C (p.Gly1219Ala) c.4421G>C (p.Gly1474Ala) c.4610G>C (p.Gly1537Ala) c.4403G>C (p.Gly1468Ala) c.1106G>C (p.Gly369Ala) c.1151G>C (p.Gly384Ala) c.4607G>C (p.Gly1536Ala) c.931G>C c.1118G>C (p.Gly373Ala) c.4327G>C (n.4327G>C) c.857G>C (p.Gly286Ala) c.5-10511G>C (n.5-10511G>C) c.17G>C (p.Gly6Ala) c.-98-24272G>C (n.-98-24272G>C) n.4680G>C n.4721G>C	dbSNP
17	g.43074462C>T	CA002899	BRCA1	c.4541G>A (p.Gly1514Glu) c.4544G>A (p.Gly1515Glu) c.4418G>A (p.Gly1473Glu) c.4538G>A (p.Gly1513Glu) c.4466G>A (p.Gly1489Glu) c.1232G>A (p.Gly411Glu) c.1094G>A (p.Gly365Glu) c.3656G>A (p.Gly1219Glu) c.4421G>A (p.Gly1474Glu) c.4610G>A (p.Gly1537Glu) c.4403G>A (p.Gly1468Glu) c.1106G>A (p.Gly369Glu) c.1151G>A (p.Gly384Glu) c.4607G>A (p.Gly1536Glu) c.931G>A c.1118G>A (p.Gly373Glu) c.4327G>A (n.4327G>A) c.857G>A (p.Gly286Glu) c.5-10511G>A (n.5-10511G>A) c.17G>A (p.Gly6Glu) c.-98-24272G>A (n.-98-24272G>A) n.4680G>A n.4721G>A	ClinVar dbSNP gnomAD v4
17	g.43074463C>A	CA10592429	BRCA1	c.4540G>T (p.Gly1514Trp) c.4543G>T (p.Gly1515Trp) c.4417G>T (p.Gly1473Trp) c.4537G>T (p.Gly1513Trp) c.4465G>T (p.Gly1489Trp) c.1231G>T (p.Gly411Trp) c.1093G>T (p.Gly365Trp) c.3655G>T (p.Gly1219Trp) c.4420G>T (p.Gly1474Trp) c.4609G>T (p.Gly1537Trp) c.4402G>T (p.Gly1468Trp) c.1105G>T (p.Gly369Trp) c.1150G>T (p.Gly384Trp) c.4606G>T (p.Gly1536Trp) c.930G>T c.1117G>T (p.Gly373Trp) c.4326G>T (n.4326G>T) c.856G>T (p.Gly286Trp) c.5-10512G>T (n.5-10512G>T) c.16G>T (p.Gly6Trp) c.-98-24273G>T (n.-98-24273G>T) n.4679G>T n.4720G>T	dbSNP
17	g.43074463C>G	CA10592430	BRCA1	c.4540G>C (p.Gly1514Arg) c.4543G>C (p.Gly1515Arg) c.4417G>C (p.Gly1473Arg) c.4537G>C (p.Gly1513Arg) c.4465G>C (p.Gly1489Arg) c.1231G>C (p.Gly411Arg) c.1093G>C (p.Gly365Arg) c.3655G>C (p.Gly1219Arg) c.4420G>C (p.Gly1474Arg) c.4609G>C (p.Gly1537Arg) c.4402G>C (p.Gly1468Arg) c.1105G>C (p.Gly369Arg) c.1150G>C (p.Gly384Arg) c.4606G>C (p.Gly1536Arg) c.930G>C c.1117G>C (p.Gly373Arg) c.4326G>C (n.4326G>C) c.856G>C (p.Gly286Arg) c.5-10512G>C (n.5-10512G>C) c.16G>C (p.Gly6Arg) c.-98-24273G>C (n.-98-24273G>C) n.4679G>C n.4720G>C	dbSNP
17	g.43074463C>T	CA10592431	BRCA1	c.4540G>A (p.Gly1514Arg) c.4543G>A (p.Gly1515Arg) c.4417G>A (p.Gly1473Arg) c.4537G>A (p.Gly1513Arg) c.4465G>A (p.Gly1489Arg) c.1231G>A (p.Gly411Arg) c.1093G>A (p.Gly365Arg) c.3655G>A (p.Gly1219Arg) c.4420G>A (p.Gly1474Arg) c.4609G>A (p.Gly1537Arg) c.4402G>A (p.Gly1468Arg) c.1105G>A (p.Gly369Arg) c.1150G>A (p.Gly384Arg) c.4606G>A (p.Gly1536Arg) c.930G>A c.1117G>A (p.Gly373Arg) c.4326G>A (n.4326G>A) c.856G>A (p.Gly286Arg) c.5-10512G>A (n.5-10512G>A) c.16G>A (p.Gly6Arg) c.-98-24273G>A (n.-98-24273G>A) n.4679G>A n.4720G>A	dbSNP
17	g.43074464A>C	CA500146637	BRCA1	c.4539T>G (p.Ser1513=) c.4542T>G (p.Ser1514=) c.4416T>G (p.Ser1472=) c.4536T>G (p.Ser1512=) c.4464T>G (p.Ser1488=) c.1230T>G (p.Ser410=) c.1092T>G (p.Ser364=) c.3654T>G (p.Ser1218=) c.4419T>G (p.Ser1473=) c.4608T>G (p.Ser1536=) c.4401T>G (p.Ser1467=) c.1104T>G (p.Ser368=) c.1149T>G (p.Ser383=) c.4605T>G (p.Ser1535=) c.929T>G c.1116T>G (p.Ser372=) c.4325T>G (n.4325T>G) c.855T>G (p.Ser285=) c.5-10513T>G (n.5-10513T>G) c.15T>G (p.Ser5=) c.-98-24274T>G (n.-98-24274T>G) n.4678T>G n.4719T>G
17	g.43074464A>G	CA500146639	BRCA1	c.4539T>C (p.Ser1513=) c.4542T>C (p.Ser1514=) c.4416T>C (p.Ser1472=) c.4536T>C (p.Ser1512=) c.4464T>C (p.Ser1488=) c.1230T>C (p.Ser410=) c.1092T>C (p.Ser364=) c.3654T>C (p.Ser1218=) c.4419T>C (p.Ser1473=) c.4608T>C (p.Ser1536=) c.4401T>C (p.Ser1467=) c.1104T>C (p.Ser368=) c.1149T>C (p.Ser383=) c.4605T>C (p.Ser1535=) c.929T>C c.1116T>C (p.Ser372=) c.4325T>C (n.4325T>C) c.855T>C (p.Ser285=) c.5-10513T>C (n.5-10513T>C) c.15T>C (p.Ser5=) c.-98-24274T>C (n.-98-24274T>C) n.4678T>C n.4719T>C
17	g.43074464A>T	CA500146641	BRCA1	c.4539T>A (p.Ser1513=) c.4542T>A (p.Ser1514=) c.4416T>A (p.Ser1472=) c.4536T>A (p.Ser1512=) c.4464T>A (p.Ser1488=) c.1230T>A (p.Ser410=) c.1092T>A (p.Ser364=) c.3654T>A (p.Ser1218=) c.4419T>A (p.Ser1473=) c.4608T>A (p.Ser1536=) c.4401T>A (p.Ser1467=) c.1104T>A (p.Ser368=) c.1149T>A (p.Ser383=) c.4605T>A (p.Ser1535=) c.929T>A c.1116T>A (p.Ser372=) c.4325T>A (n.4325T>A) c.855T>A (p.Ser285=) c.5-10513T>A (n.5-10513T>A) c.15T>A (p.Ser5=) c.-98-24274T>A (n.-98-24274T>A) n.4678T>A n.4719T>A
17	g.43074465G>A	CA338077	BRCA1	c.4538C>T (p.Ser1513Phe) c.4541C>T (p.Ser1514Phe) c.4415C>T (p.Ser1472Phe) c.4535C>T (p.Ser1512Phe) c.4463C>T (p.Ser1488Phe) c.1229C>T (p.Ser410Phe) c.1091C>T (p.Ser364Phe) c.3653C>T (p.Ser1218Phe) c.4418C>T (p.Ser1473Phe) c.4607C>T (p.Ser1536Phe) c.4400C>T (p.Ser1467Phe) c.1103C>T (p.Ser368Phe) c.1148C>T (p.Ser383Phe) c.4604C>T (p.Ser1535Phe) c.928C>T c.1115C>T (p.Ser372Phe) c.4324C>T (n.4324C>T) c.854C>T (p.Ser285Phe) c.5-10514C>T (n.5-10514C>T) c.14C>T (p.Ser5Phe) c.-98-24275C>T (n.-98-24275C>T) n.4677C>T n.4718C>T	ClinVar dbSNP
17	g.43074465G>C	CA10592432	BRCA1	c.4538C>G (p.Ser1513Cys) c.4541C>G (p.Ser1514Cys) c.4415C>G (p.Ser1472Cys) c.4535C>G (p.Ser1512Cys) c.4463C>G (p.Ser1488Cys) c.1229C>G (p.Ser410Cys) c.1091C>G (p.Ser364Cys) c.3653C>G (p.Ser1218Cys) c.4418C>G (p.Ser1473Cys) c.4607C>G (p.Ser1536Cys) c.4400C>G (p.Ser1467Cys) c.1103C>G (p.Ser368Cys) c.1148C>G (p.Ser383Cys) c.4604C>G (p.Ser1535Cys) c.928C>G c.1115C>G (p.Ser372Cys) c.4324C>G (n.4324C>G) c.854C>G (p.Ser285Cys) c.5-10514C>G (n.5-10514C>G) c.14C>G (p.Ser5Cys) c.-98-24275C>G (n.-98-24275C>G) n.4677C>G n.4718C>G
17	g.43074465G=	CA2260774533	BRCA1	c.4538C= (p.Ser1513=) c.4541C= (p.Ser1514=) c.4415C= (p.Ser1472=) c.4535C= (p.Ser1512=) c.4463C= (p.Ser1488=) c.1229C= (p.Ser410=) c.1091C= (p.Ser364=) c.3653C= (p.Ser1218=) c.4418C= (p.Ser1473=) c.4607C= (p.Ser1536=) c.4400C= (p.Ser1467=) c.1103C= (p.Ser368=) c.1148C= (p.Ser383=) c.4604C= (p.Ser1535=) c.928C= c.1115C= (p.Ser372=) c.4324C= (n.4324C=) c.854C= (p.Ser285=) c.5-10514C= (n.5-10514C=) c.14C= (p.Ser5=) c.-98-24275C= (n.-98-24275C=) n.4677C= n.4718C=
17	g.43074465G>T	CA10592433	BRCA1	c.4538C>A (p.Ser1513Tyr) c.4541C>A (p.Ser1514Tyr) c.4415C>A (p.Ser1472Tyr) c.4535C>A (p.Ser1512Tyr) c.4463C>A (p.Ser1488Tyr) c.1229C>A (p.Ser410Tyr) c.1091C>A (p.Ser364Tyr) c.3653C>A (p.Ser1218Tyr) c.4418C>A (p.Ser1473Tyr) c.4607C>A (p.Ser1536Tyr) c.4400C>A (p.Ser1467Tyr) c.1103C>A (p.Ser368Tyr) c.1148C>A (p.Ser383Tyr) c.4604C>A (p.Ser1535Tyr) c.928C>A c.1115C>A (p.Ser372Tyr) c.4324C>A (n.4324C>A) c.854C>A (p.Ser285Tyr) c.5-10514C>A (n.5-10514C>A) c.14C>A (p.Ser5Tyr) c.-98-24275C>A (n.-98-24275C>A) n.4677C>A n.4718C>A
17	g.43074466A>C	CA10592434	BRCA1	c.4537T>G (p.Ser1513Ala) c.4540T>G (p.Ser1514Ala) c.4414T>G (p.Ser1472Ala) c.4534T>G (p.Ser1512Ala) c.4462T>G (p.Ser1488Ala) c.1228T>G (p.Ser410Ala) c.1090T>G (p.Ser364Ala) c.3652T>G (p.Ser1218Ala) c.4417T>G (p.Ser1473Ala) c.4606T>G (p.Ser1536Ala) c.4399T>G (p.Ser1467Ala) c.1102T>G (p.Ser368Ala) c.1147T>G (p.Ser383Ala) c.4603T>G (p.Ser1535Ala) c.927T>G c.1114T>G (p.Ser372Ala) c.4323T>G (n.4323T>G) c.853T>G (p.Ser285Ala) c.5-10515T>G (n.5-10515T>G) c.13T>G (p.Ser5Ala) c.-98-24276T>G (n.-98-24276T>G) n.4676T>G n.4717T>G
17	g.43074466A>G	CA10592435	BRCA1	c.4537T>C (p.Ser1513Pro) c.4540T>C (p.Ser1514Pro) c.4414T>C (p.Ser1472Pro) c.4534T>C (p.Ser1512Pro) c.4462T>C (p.Ser1488Pro) c.1228T>C (p.Ser410Pro) c.1090T>C (p.Ser364Pro) c.3652T>C (p.Ser1218Pro) c.4417T>C (p.Ser1473Pro) c.4606T>C (p.Ser1536Pro) c.4399T>C (p.Ser1467Pro) c.1102T>C (p.Ser368Pro) c.1147T>C (p.Ser383Pro) c.4603T>C (p.Ser1535Pro) c.927T>C c.1114T>C (p.Ser372Pro) c.4323T>C (n.4323T>C) c.853T>C (p.Ser285Pro) c.5-10515T>C (n.5-10515T>C) c.13T>C (p.Ser5Pro) c.-98-24276T>C (n.-98-24276T>C) n.4676T>C n.4717T>C
17	g.43074466A>T	CA10592436	BRCA1	c.4537T>A (p.Ser1513Thr) c.4540T>A (p.Ser1514Thr) c.4414T>A (p.Ser1472Thr) c.4534T>A (p.Ser1512Thr) c.4462T>A (p.Ser1488Thr) c.1228T>A (p.Ser410Thr) c.1090T>A (p.Ser364Thr) c.3652T>A (p.Ser1218Thr) c.4417T>A (p.Ser1473Thr) c.4606T>A (p.Ser1536Thr) c.4399T>A (p.Ser1467Thr) c.1102T>A (p.Ser368Thr) c.1147T>A (p.Ser383Thr) c.4603T>A (p.Ser1535Thr) c.927T>A c.1114T>A (p.Ser372Thr) c.4323T>A (n.4323T>A) c.853T>A (p.Ser285Thr) c.5-10515T>A (n.5-10515T>A) c.13T>A (p.Ser5Thr) c.-98-24276T>A (n.-98-24276T>A) n.4676T>A n.4717T>A	dbSNP
17	g.43074467G>A	CA500146643	BRCA1	c.4536C>T (p.Cys1512=) c.4539C>T (p.Cys1513=) c.4413C>T (p.Cys1471=) c.4533C>T (p.Cys1511=) c.4461C>T (p.Cys1487=) c.1227C>T (p.Cys409=) c.1089C>T (p.Cys363=) c.3651C>T (p.Cys1217=) c.4416C>T (p.Cys1472=) c.4605C>T (p.Cys1535=) c.4398C>T (p.Cys1466=) c.1101C>T (p.Cys367=) c.1146C>T (p.Cys382=) c.4602C>T (p.Cys1534=) c.926C>T c.1113C>T (p.Cys371=) c.4322C>T (n.4322C>T) c.852C>T (p.Cys284=) c.5-10516C>T (n.5-10516C>T) c.12C>T (p.Cys4=) c.-98-24277C>T (n.-98-24277C>T) n.4675C>T n.4716C>T	ClinVar dbSNP
17	g.43074467G>C	CA10592437	BRCA1	c.4536C>G (p.Cys1512Trp) c.4539C>G (p.Cys1513Trp) c.4413C>G (p.Cys1471Trp) c.4533C>G (p.Cys1511Trp) c.4461C>G (p.Cys1487Trp) c.1227C>G (p.Cys409Trp) c.1089C>G (p.Cys363Trp) c.3651C>G (p.Cys1217Trp) c.4416C>G (p.Cys1472Trp) c.4605C>G (p.Cys1535Trp) c.4398C>G (p.Cys1466Trp) c.1101C>G (p.Cys367Trp) c.1146C>G (p.Cys382Trp) c.4602C>G (p.Cys1534Trp) c.926C>G c.1113C>G (p.Cys371Trp) c.4322C>G (n.4322C>G) c.852C>G (p.Cys284Trp) c.5-10516C>G (n.5-10516C>G) c.12C>G (p.Cys4Trp) c.-98-24277C>G (n.-98-24277C>G) n.4675C>G n.4716C>G	dbSNP
17	g.43074467G=	CA2260774534	BRCA1	c.4536C= (p.Cys1512=) c.4539C= (p.Cys1513=) c.4413C= (p.Cys1471=) c.4533C= (p.Cys1511=) c.4461C= (p.Cys1487=) c.1227C= (p.Cys409=) c.1089C= (p.Cys363=) c.3651C= (p.Cys1217=) c.4416C= (p.Cys1472=) c.4605C= (p.Cys1535=) c.4398C= (p.Cys1466=) c.1101C= (p.Cys367=) c.1146C= (p.Cys382=) c.4602C= (p.Cys1534=) c.926C= c.1113C= (p.Cys371=) c.4322C= (n.4322C=) c.852C= (p.Cys284=) c.5-10516C= (n.5-10516C=) c.12C= (p.Cys4=) c.-98-24277C= (n.-98-24277C=) n.4675C= n.4716C=
17	g.43074467G>T	CA10592438	BRCA1	c.4536C>A (p.Cys1512Ter) c.4539C>A (p.Cys1513Ter) c.4413C>A (p.Cys1471Ter) c.4533C>A (p.Cys1511Ter) c.4461C>A (p.Cys1487Ter) c.1227C>A (p.Cys409Ter) c.1089C>A (p.Cys363Ter) c.3651C>A (p.Cys1217Ter) c.4416C>A (p.Cys1472Ter) c.4605C>A (p.Cys1535Ter) c.4398C>A (p.Cys1466Ter) c.1101C>A (p.Cys367Ter) c.1146C>A (p.Cys382Ter) c.4602C>A (p.Cys1534Ter) c.926C>A c.1113C>A (p.Cys371Ter) c.4322C>A (n.4322C>A) c.852C>A (p.Cys284Ter) c.5-10516C>A (n.5-10516C>A) c.12C>A (p.Cys4Ter) c.-98-24277C>A (n.-98-24277C>A) n.4675C>A n.4716C>A	ClinVar dbSNP
17	g.43074467_43074468del	CA1139770855	BRCA1	c.4535_4536del (p.Cys1512PhefsTer7) c.4538_4539del (p.Cys1513PhefsTer7) c.4412_4413del (p.Cys1471PhefsTer7) c.4532_4533del (p.Cys1511PhefsTer7) c.4460_4461del (p.Cys1487PhefsTer7) c.1226_1227del (p.Cys409PhefsTer7) c.1088_1089del (p.Cys363PhefsTer7) c.3650_3651del (p.Cys1217PhefsTer7) c.4415_4416del (p.Cys1472PhefsTer7) c.4604_4605del (p.Cys1535PhefsTer7) c.4397_4398del (p.Cys1466PhefsTer7) c.1100_1101del (p.Cys367PhefsTer7) c.1145_1146del (p.Cys382PhefsTer7) c.4601_4602del (p.Cys1534PhefsTer7) c.925_926del c.1112_1113del (p.Cys371PhefsTer7) c.4321_4322del (n.4321_4322del) c.851_852del (p.Cys284PhefsTer7) c.5-10517_5-10516del (n.5-10517_5-10516del) c.11_12del (p.Cys4PhefsTer7) c.-98-24278_-98-24277del (n.-98-24278_-98-24277del) n.4674_4675del n.4715_4716del
17	g.43074468C>A	CA10592439	BRCA1	c.4535G>T (p.Cys1512Phe) c.4538G>T (p.Cys1513Phe) c.4412G>T (p.Cys1471Phe) c.4532G>T (p.Cys1511Phe) c.4460G>T (p.Cys1487Phe) c.1226G>T (p.Cys409Phe) c.1088G>T (p.Cys363Phe) c.3650G>T (p.Cys1217Phe) c.4415G>T (p.Cys1472Phe) c.4604G>T (p.Cys1535Phe) c.4397G>T (p.Cys1466Phe) c.1100G>T (p.Cys367Phe) c.1145G>T (p.Cys382Phe) c.4601G>T (p.Cys1534Phe) c.925G>T c.1112G>T (p.Cys371Phe) c.4321G>T (n.4321G>T) c.851G>T (p.Cys284Phe) c.5-10517G>T (n.5-10517G>T) c.11G>T (p.Cys4Phe) c.-98-24278G>T (n.-98-24278G>T) n.4674G>T n.4715G>T
17	g.43074468C>G	CA10592440	BRCA1	c.4535G>C (p.Cys1512Ser) c.4538G>C (p.Cys1513Ser) c.4412G>C (p.Cys1471Ser) c.4532G>C (p.Cys1511Ser) c.4460G>C (p.Cys1487Ser) c.1226G>C (p.Cys409Ser) c.1088G>C (p.Cys363Ser) c.3650G>C (p.Cys1217Ser) c.4415G>C (p.Cys1472Ser) c.4604G>C (p.Cys1535Ser) c.4397G>C (p.Cys1466Ser) c.1100G>C (p.Cys367Ser) c.1145G>C (p.Cys382Ser) c.4601G>C (p.Cys1534Ser) c.925G>C c.1112G>C (p.Cys371Ser) c.4321G>C (n.4321G>C) c.851G>C (p.Cys284Ser) c.5-10517G>C (n.5-10517G>C) c.11G>C (p.Cys4Ser) c.-98-24278G>C (n.-98-24278G>C) n.4674G>C n.4715G>C	dbSNP
17	g.43074468C>T	CA10592441	BRCA1	c.4535G>A (p.Cys1512Tyr) c.4538G>A (p.Cys1513Tyr) c.4412G>A (p.Cys1471Tyr) c.4532G>A (p.Cys1511Tyr) c.4460G>A (p.Cys1487Tyr) c.1226G>A (p.Cys409Tyr) c.1088G>A (p.Cys363Tyr) c.3650G>A (p.Cys1217Tyr) c.4415G>A (p.Cys1472Tyr) c.4604G>A (p.Cys1535Tyr) c.4397G>A (p.Cys1466Tyr) c.1100G>A (p.Cys367Tyr) c.1145G>A (p.Cys382Tyr) c.4601G>A (p.Cys1534Tyr) c.925G>A c.1112G>A (p.Cys371Tyr) c.4321G>A (n.4321G>A) c.851G>A (p.Cys284Tyr) c.5-10517G>A (n.5-10517G>A) c.11G>A (p.Cys4Tyr) c.-98-24278G>A (n.-98-24278G>A) n.4674G>A n.4715G>A	dbSNP
17	g.43074468_43074469insTC	CA2695225916	BRCA1	c.4535_4536insAG (p.Cys1512Ter) c.4538_4539insAG (p.Cys1513Ter) c.4412_4413insAG (p.Cys1471Ter) c.4532_4533insAG (p.Cys1511Ter) c.4460_4461insAG (p.Cys1487Ter) c.1226_1227insAG (p.Cys409Ter) c.1088_1089insAG (p.Cys363Ter) c.3650_3651insAG (p.Cys1217Ter) c.4415_4416insAG (p.Cys1472Ter) c.4604_4605insAG (p.Cys1535Ter) c.4397_4398insAG (p.Cys1466Ter) c.1100_1101insAG (p.Cys367Ter) c.1145_1146insAG (p.Cys382Ter) c.4601_4602insAG (p.Cys1534Ter) c.925_926insAG c.1112_1113insAG (p.Cys371Ter) c.4321_4322insAG (n.4321_4322insAG) c.851_852insAG (p.Cys284Ter) c.5-10517_5-10516insAG (n.5-10517_5-10516insAG) c.11_12insAG (p.Cys4Ter) c.-98-24278_-98-24277insAG (n.-98-24278_-98-24277insAG) n.4674_4675insAG n.4715_4716insAG
17	g.43074468dup	CA2697559974	BRCA1	c.4535dup (p.Cys1512TrpfsTer8) c.4538dup (p.Cys1513TrpfsTer8) c.4412dup (p.Cys1471TrpfsTer8) c.4532dup (p.Cys1511TrpfsTer8) c.4460dup (p.Cys1487TrpfsTer8) c.1226dup (p.Cys409TrpfsTer8) c.1088dup (p.Cys363TrpfsTer8) c.3650dup (p.Cys1217TrpfsTer8) c.4415dup (p.Cys1472TrpfsTer8) c.4604dup (p.Cys1535TrpfsTer8) c.4397dup (p.Cys1466TrpfsTer8) c.1100dup (p.Cys367TrpfsTer8) c.1145dup (p.Cys382TrpfsTer8) c.4601dup (p.Cys1534TrpfsTer8) c.925dup c.1112dup (p.Cys371TrpfsTer8) c.4321dup (n.4321dup) c.851dup (p.Cys284TrpfsTer8) c.5-10517dup (n.5-10517dup) c.11dup (p.Cys4TrpfsTer8) c.-98-24278dup (n.-98-24278dup) n.4674dup n.4715dup	ClinVar

Number of alleles fetched