Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43070208_43078359dupCA16043350BRCA1c.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
17g.43070192_43078360dupCA2580612611BRCA1c.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
17g.43074333_43082577delCA2581463402BRCA1c.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
17g.43075650_43084252dupCA2580612642BRCA1c.4186-1676_4481+839dup
c.4186-1676_4484+839dup
c.4060-1676_4358+839dup
c.4183-1679_4478+839dup
c.4108-1676_4406+839dup
c.874-1676_1172+839dup
c.736-1676_1034+839dup
c.3298-1676_3596+839dup
c.4063-1676_4361+839dup
c.4186-1676_4550+839dup
c.4045-1676_4343+839dup
c.754-1679_1046+839dup
c.796-1676_1091+839dup
c.4186-1676_4547+839dup
c.507-1676_871+839dup
c.760-1676_1058+839dup
c.*3969-1676_*4267+839dup
c.877-1676_1172+839dup
c.499-1676_797+839dup
c.5-20300_5-11698dup (n.5-20300_5-11698dup)
c.-43-9730_-43-1128dup (n.-43-9730_-43-1128dup)
c.-98-34061_-98-25459dup (n.-98-34061_-98-25459dup)
n.4322-1676_4620+839dup
n.4363-1676_4661+839dup
17g.43075943_43080892delCA16609626BRCA1c.4357+1514_4481+547del
c.4357+1514_4484+547del
c.4231+1514_4358+547del
c.4351+1514_4478+547del
c.4279+1514_4406+547del
c.1045+1514_1172+547del
c.907+1514_1034+547del
c.3469+1514_3596+547del
c.4234+1514_4361+547del
c.4358-1491_4550+547del
c.4216+1514_4343+547del
c.922+1514_1046+547del
c.967+1514_1091+547del
c.4358-1491_4547+547del
c.679-1491_871+547del
c.931+1514_1058+547del
c.*4140+1514_*4267+547del
c.1048+1514_1172+547del
c.670+1514_797+547del
c.5-16939_5-11990del (n.5-16939_5-11990del)
c.-43-6369_-43-1420del (n.-43-6369_-43-1420del)
c.-98-30700_-98-25751del (n.-98-30700_-98-25751del)
n.4493+1514_4620+547del
n.4534+1514_4661+547del
 ClinVar
17g.43076486_43076615delCA2499224413BRCA1c.4358-4_4481+2del
c.4358-1_4484+2del
c.4232-1_4358+2del
c.4352-1_4478+2del
c.4280-1_4406+2del
c.1046-1_1172+2del
c.908-1_1034+2del
c.3470-1_3596+2del
c.4235-1_4361+2del
c.4424-1_4550+2del
c.4217-1_4343+2del
c.923-4_1046+2del
c.968-4_1091+2del
c.4424-4_4547+2del
c.745-1_871+2del
c.932-1_1058+2del
c.*4141-1_*4267+2del
c.1049-4_1172+2del
c.671-1_797+2del
c.5-12664_5-12535del (n.5-12664_5-12535del)
c.-43-2094_-43-1965del (n.-43-2094_-43-1965del)
c.-98-26425_-98-26296del (n.-98-26425_-98-26296del)
n.4494-1_4620+2del
n.4535-1_4661+2del
 ClinVar dbSNP
17g.43076492_43076618dupCA658653640BRCA1c.4358-3_4481dup
c.4358_4484dup
c.4232_4358dup
c.4352_4478dup
c.4280_4406dup
c.1046_1172dup
c.908_1034dup
c.3470_3596dup
c.4235_4361dup
c.4424_4550dup
c.4217_4343dup
c.923-3_1046dup
c.968-3_1091dup
c.4424-3_4547dup
c.745_871dup
c.932_1058dup
c.*4141_*4267dup
c.1049-3_1172dup
c.671_797dup
c.5-12663_5-12537dup (n.5-12663_5-12537dup)
c.-43-2093_-43-1967dup (n.-43-2093_-43-1967dup)
c.-98-26424_-98-26298dup (n.-98-26424_-98-26298dup)
n.4494_4620dup
n.4535_4661dup
17g.43076492_43076618delCA002799BRCA1c.4358-3_4481del
c.4358_4484del
c.4232_4358del
c.4352_4478del
c.4280_4406del
c.1046_1172del
c.908_1034del
c.3470_3596del
c.4235_4361del
c.4424_4550del
c.4217_4343del
c.923-3_1046del
c.968-3_1091del
c.4424-3_4547del
c.745_871del
c.932_1058del
c.*4141_*4267del
c.1049-3_1172del
c.671_797del
c.674_800del
c.5-12663_5-12537del (n.5-12663_5-12537del)
c.-43-2093_-43-1967del (n.-43-2093_-43-1967del)
c.-98-26424_-98-26298del (n.-98-26424_-98-26298del)
n.252-3_375del
n.4494_4620del
n.4535_4661del
 ClinVar
17g.43076523_43076526dupCA2573153990BRCA1c.4444_4447dup (p.Ser1483Ter)
c.4447_4450dup (p.Ser1484Ter)
c.4321_4324dup (p.Ser1442Ter)
c.4441_4444dup (p.Ser1482Ter)
c.4369_4372dup (p.Ser1458Ter)
c.1135_1138dup (p.Ser380Ter)
c.997_1000dup (p.Ser334Ter)
c.3559_3562dup (p.Ser1188Ter)
c.4324_4327dup (p.Ser1443Ter)
c.4513_4516dup (p.Ser1506Ter)
c.4306_4309dup (p.Ser1437Ter)
c.1009_1012dup (p.Ser338Ter)
c.1054_1057dup (p.Ser353Ter)
c.4510_4513dup (p.Ser1505Ter)
c.834_837dup
c.1021_1024dup (p.Ser342Ter)
c.*4230_*4233dup (n.*4230_*4233dup)
c.760_763dup (p.Ser255Ter)
c.763_766dup (p.Ser256Ter)
c.5-12574_5-12571dup (n.5-12574_5-12571dup)
c.-43-2004_-43-2001dup (n.-43-2004_-43-2001dup)
c.-98-26335_-98-26332dup (n.-98-26335_-98-26332dup)
n.338_341dup
n.4583_4586dup
n.4624_4627dup
 ClinVar dbSNP
17g.43076526A=CA2260775473BRCA1c.4443T= (p.Asp1481=)
c.4446T= (p.Asp1482=)
c.4320T= (p.Asp1440=)
c.4440T= (p.Asp1480=)
c.4368T= (p.Asp1456=)
c.1134T= (p.Asp378=)
c.996T= (p.Asp332=)
c.3558T= (p.Asp1186=)
c.4323T= (p.Asp1441=)
c.4512T= (p.Asp1504=)
c.4305T= (p.Asp1435=)
c.1008T= (p.Asp336=)
c.1053T= (p.Asp351=)
c.4509T= (p.Asp1503=)
c.833T=
c.1020T= (p.Asp340=)
c.*4229T= (n.*4229T=)
c.759T= (p.Asp253=)
c.762T= (p.Asp254=)
c.5-12575T= (n.5-12575T=)
c.-43-2005T= (n.-43-2005T=)
c.-98-26336T= (n.-98-26336T=)
n.337T=
n.4582T=
n.4623T=
17g.43076526A>CCA10592643BRCA1c.4443T>G (p.Asp1481Glu)
c.4446T>G (p.Asp1482Glu)
c.4320T>G (p.Asp1440Glu)
c.4440T>G (p.Asp1480Glu)
c.4368T>G (p.Asp1456Glu)
c.1134T>G (p.Asp378Glu)
c.996T>G (p.Asp332Glu)
c.3558T>G (p.Asp1186Glu)
c.4323T>G (p.Asp1441Glu)
c.4512T>G (p.Asp1504Glu)
c.4305T>G (p.Asp1435Glu)
c.1008T>G (p.Asp336Glu)
c.1053T>G (p.Asp351Glu)
c.4509T>G (p.Asp1503Glu)
c.833T>G
c.1020T>G (p.Asp340Glu)
c.*4229T>G (n.*4229T>G)
c.759T>G (p.Asp253Glu)
c.762T>G (p.Asp254Glu)
c.5-12575T>G (n.5-12575T>G)
c.-43-2005T>G (n.-43-2005T>G)
c.-98-26336T>G (n.-98-26336T>G)
n.337T>G
n.4582T>G
n.4623T>G
 ClinVar dbSNP
17g.43076526A>GCA500146798BRCA1c.4443T>C (p.Asp1481=)
c.4446T>C (p.Asp1482=)
c.4320T>C (p.Asp1440=)
c.4440T>C (p.Asp1480=)
c.4368T>C (p.Asp1456=)
c.1134T>C (p.Asp378=)
c.996T>C (p.Asp332=)
c.3558T>C (p.Asp1186=)
c.4323T>C (p.Asp1441=)
c.4512T>C (p.Asp1504=)
c.4305T>C (p.Asp1435=)
c.1008T>C (p.Asp336=)
c.1053T>C (p.Asp351=)
c.4509T>C (p.Asp1503=)
c.833T>C
c.1020T>C (p.Asp340=)
c.*4229T>C (n.*4229T>C)
c.759T>C (p.Asp253=)
c.762T>C (p.Asp254=)
c.5-12575T>C (n.5-12575T>C)
c.-43-2005T>C (n.-43-2005T>C)
c.-98-26336T>C (n.-98-26336T>C)
n.337T>C
n.4582T>C
n.4623T>C
 ClinVar dbSNP
17g.43076526A>TCA10592644BRCA1c.4443T>A (p.Asp1481Glu)
c.4446T>A (p.Asp1482Glu)
c.4320T>A (p.Asp1440Glu)
c.4440T>A (p.Asp1480Glu)
c.4368T>A (p.Asp1456Glu)
c.1134T>A (p.Asp378Glu)
c.996T>A (p.Asp332Glu)
c.3558T>A (p.Asp1186Glu)
c.4323T>A (p.Asp1441Glu)
c.4512T>A (p.Asp1504Glu)
c.4305T>A (p.Asp1435Glu)
c.1008T>A (p.Asp336Glu)
c.1053T>A (p.Asp351Glu)
c.4509T>A (p.Asp1503Glu)
c.833T>A
c.1020T>A (p.Asp340Glu)
c.*4229T>A (n.*4229T>A)
c.759T>A (p.Asp253Glu)
c.762T>A (p.Asp254Glu)
c.5-12575T>A (n.5-12575T>A)
c.-43-2005T>A (n.-43-2005T>A)
c.-98-26336T>A (n.-98-26336T>A)
n.337T>A
n.4582T>A
n.4623T>A
 ClinVar dbSNP
17g.43076526_43076527insAACCGACTCTAAATACAGTTGAGGCTATCAAGAGTAAGTTTACAAAGATTAATCTTGATTGGCTCA2562367312BRCA1c.4442_4443insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1481GlufsTer6)
c.4445_4446insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1482GlufsTer6)
c.4319_4320insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1440GlufsTer6)
c.4439_4440insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1480GlufsTer6)
c.4367_4368insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1456GlufsTer6)
c.1133_1134insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp378GlufsTer6)
c.995_996insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp332GlufsTer6)
c.3557_3558insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1186GlufsTer6)
c.4322_4323insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1441GlufsTer6)
c.4511_4512insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1504GlufsTer6)
c.4304_4305insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1435GlufsTer6)
c.1007_1008insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp336GlufsTer6)
c.1052_1053insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp351GlufsTer6)
c.4508_4509insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp1503GlufsTer6)
c.832_833insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT
c.1019_1020insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp340GlufsTer6)
c.*4228_*4229insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.*4228_*4229insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT)
c.758_759insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp253GlufsTer6)
c.761_762insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (p.Asp254GlufsTer6)
c.5-12576_5-12575insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.5-12576_5-12575insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT)
c.-43-2006_-43-2005insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.-43-2006_-43-2005insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT)
c.-98-26337_-98-26336insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT (n.-98-26337_-98-26336insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT)
n.336_337insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT
n.4581_4582insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT
n.4622_4623insAGCCAATCAAGATTAATCTTTGTAAACTTACTCTTGATAGCCTCAACTGTATTTAGAGTCGGTT
17g.43076527T>ACA052298BRCA1c.4442A>T (p.Asp1481Val)
c.4445A>T (p.Asp1482Val)
c.4319A>T (p.Asp1440Val)
c.4439A>T (p.Asp1480Val)
c.4367A>T (p.Asp1456Val)
c.1133A>T (p.Asp378Val)
c.995A>T (p.Asp332Val)
c.3557A>T (p.Asp1186Val)
c.4322A>T (p.Asp1441Val)
c.4511A>T (p.Asp1504Val)
c.4304A>T (p.Asp1435Val)
c.1007A>T (p.Asp336Val)
c.1052A>T (p.Asp351Val)
c.4508A>T (p.Asp1503Val)
c.832A>T
c.1019A>T (p.Asp340Val)
c.*4228A>T (n.*4228A>T)
c.758A>T (p.Asp253Val)
c.761A>T (p.Asp254Val)
c.5-12576A>T (n.5-12576A>T)
c.-43-2006A>T (n.-43-2006A>T)
c.-98-26337A>T (n.-98-26337A>T)
n.336A>T
n.4581A>T
n.4622A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43076527T>CCA10592645BRCA1c.4442A>G (p.Asp1481Gly)
c.4445A>G (p.Asp1482Gly)
c.4319A>G (p.Asp1440Gly)
c.4439A>G (p.Asp1480Gly)
c.4367A>G (p.Asp1456Gly)
c.1133A>G (p.Asp378Gly)
c.995A>G (p.Asp332Gly)
c.3557A>G (p.Asp1186Gly)
c.4322A>G (p.Asp1441Gly)
c.4511A>G (p.Asp1504Gly)
c.4304A>G (p.Asp1435Gly)
c.1007A>G (p.Asp336Gly)
c.1052A>G (p.Asp351Gly)
c.4508A>G (p.Asp1503Gly)
c.832A>G
c.1019A>G (p.Asp340Gly)
c.*4228A>G (n.*4228A>G)
c.758A>G (p.Asp253Gly)
c.761A>G (p.Asp254Gly)
c.5-12576A>G (n.5-12576A>G)
c.-43-2006A>G (n.-43-2006A>G)
c.-98-26337A>G (n.-98-26337A>G)
n.336A>G
n.4581A>G
n.4622A>G
 ClinVar dbSNP
17g.43076527T>GCA10592646BRCA1c.4442A>C (p.Asp1481Ala)
c.4445A>C (p.Asp1482Ala)
c.4319A>C (p.Asp1440Ala)
c.4439A>C (p.Asp1480Ala)
c.4367A>C (p.Asp1456Ala)
c.1133A>C (p.Asp378Ala)
c.995A>C (p.Asp332Ala)
c.3557A>C (p.Asp1186Ala)
c.4322A>C (p.Asp1441Ala)
c.4511A>C (p.Asp1504Ala)
c.4304A>C (p.Asp1435Ala)
c.1007A>C (p.Asp336Ala)
c.1052A>C (p.Asp351Ala)
c.4508A>C (p.Asp1503Ala)
c.832A>C
c.1019A>C (p.Asp340Ala)
c.*4228A>C (n.*4228A>C)
c.758A>C (p.Asp253Ala)
c.761A>C (p.Asp254Ala)
c.5-12576A>C (n.5-12576A>C)
c.-43-2006A>C (n.-43-2006A>C)
c.-98-26337A>C (n.-98-26337A>C)
n.336A>C
n.4581A>C
n.4622A>C
 ClinVar dbSNP
17g.43076527T=CA2260775474BRCA1c.4442A= (p.Asp1481=)
c.4445A= (p.Asp1482=)
c.4319A= (p.Asp1440=)
c.4439A= (p.Asp1480=)
c.4367A= (p.Asp1456=)
c.1133A= (p.Asp378=)
c.995A= (p.Asp332=)
c.3557A= (p.Asp1186=)
c.4322A= (p.Asp1441=)
c.4511A= (p.Asp1504=)
c.4304A= (p.Asp1435=)
c.1007A= (p.Asp336=)
c.1052A= (p.Asp351=)
c.4508A= (p.Asp1503=)
c.832A=
c.1019A= (p.Asp340=)
c.*4228A= (n.*4228A=)
c.758A= (p.Asp253=)
c.761A= (p.Asp254=)
c.5-12576A= (n.5-12576A=)
c.-43-2006A= (n.-43-2006A=)
c.-98-26337A= (n.-98-26337A=)
n.336A=
n.4581A=
n.4622A=
17g.43076528C>ACA10592647BRCA1c.4441G>T (p.Asp1481Tyr)
c.4444G>T (p.Asp1482Tyr)
c.4318G>T (p.Asp1440Tyr)
c.4438G>T (p.Asp1480Tyr)
c.4366G>T (p.Asp1456Tyr)
c.1132G>T (p.Asp378Tyr)
c.994G>T (p.Asp332Tyr)
c.3556G>T (p.Asp1186Tyr)
c.4321G>T (p.Asp1441Tyr)
c.4510G>T (p.Asp1504Tyr)
c.4303G>T (p.Asp1435Tyr)
c.1006G>T (p.Asp336Tyr)
c.1051G>T (p.Asp351Tyr)
c.4507G>T (p.Asp1503Tyr)
c.831G>T
c.1018G>T (p.Asp340Tyr)
c.*4227G>T (n.*4227G>T)
c.757G>T (p.Asp253Tyr)
c.760G>T (p.Asp254Tyr)
c.5-12577G>T (n.5-12577G>T)
c.-43-2007G>T (n.-43-2007G>T)
c.-98-26338G>T (n.-98-26338G>T)
n.335G>T
n.4580G>T
n.4621G>T
17g.43076528C=CA2260775475BRCA1c.4441G= (p.Asp1481=)
c.4444G= (p.Asp1482=)
c.4318G= (p.Asp1440=)
c.4438G= (p.Asp1480=)
c.4366G= (p.Asp1456=)
c.1132G= (p.Asp378=)
c.994G= (p.Asp332=)
c.3556G= (p.Asp1186=)
c.4321G= (p.Asp1441=)
c.4510G= (p.Asp1504=)
c.4303G= (p.Asp1435=)
c.1006G= (p.Asp336=)
c.1051G= (p.Asp351=)
c.4507G= (p.Asp1503=)
c.831G=
c.1018G= (p.Asp340=)
c.*4227G= (n.*4227G=)
c.757G= (p.Asp253=)
c.760G= (p.Asp254=)
c.5-12577G= (n.5-12577G=)
c.-43-2007G= (n.-43-2007G=)
c.-98-26338G= (n.-98-26338G=)
n.335G=
n.4580G=
n.4621G=
17g.43076528C>GCA10592648BRCA1c.4441G>C (p.Asp1481His)
c.4444G>C (p.Asp1482His)
c.4318G>C (p.Asp1440His)
c.4438G>C (p.Asp1480His)
c.4366G>C (p.Asp1456His)
c.1132G>C (p.Asp378His)
c.994G>C (p.Asp332His)
c.3556G>C (p.Asp1186His)
c.4321G>C (p.Asp1441His)
c.4510G>C (p.Asp1504His)
c.4303G>C (p.Asp1435His)
c.1006G>C (p.Asp336His)
c.1051G>C (p.Asp351His)
c.4507G>C (p.Asp1503His)
c.831G>C
c.1018G>C (p.Asp340His)
c.*4227G>C (n.*4227G>C)
c.757G>C (p.Asp253His)
c.760G>C (p.Asp254His)
c.5-12577G>C (n.5-12577G>C)
c.-43-2007G>C (n.-43-2007G>C)
c.-98-26338G>C (n.-98-26338G>C)
n.335G>C
n.4580G>C
n.4621G>C
 dbSNP
17g.43076528C>TCA10592649BRCA1c.4441G>A (p.Asp1481Asn)
c.4444G>A (p.Asp1482Asn)
c.4318G>A (p.Asp1440Asn)
c.4438G>A (p.Asp1480Asn)
c.4366G>A (p.Asp1456Asn)
c.1132G>A (p.Asp378Asn)
c.994G>A (p.Asp332Asn)
c.3556G>A (p.Asp1186Asn)
c.4321G>A (p.Asp1441Asn)
c.4510G>A (p.Asp1504Asn)
c.4303G>A (p.Asp1435Asn)
c.1006G>A (p.Asp336Asn)
c.1051G>A (p.Asp351Asn)
c.4507G>A (p.Asp1503Asn)
c.831G>A
c.1018G>A (p.Asp340Asn)
c.*4227G>A (n.*4227G>A)
c.757G>A (p.Asp253Asn)
c.760G>A (p.Asp254Asn)
c.5-12577G>A (n.5-12577G>A)
c.-43-2007G>A (n.-43-2007G>A)
c.-98-26338G>A (n.-98-26338G>A)
n.335G>A
n.4580G>A
n.4621G>A
 ClinVar dbSNP
17g.43076528_43076540delinsATGCAGACACCTTCA2844066013BRCA1c.4429_4441delinsAAGGTGTCTGCAT (p.Glu1477_Asp1481delinsLysValSerAlaTyr)
c.4432_4444delinsAAGGTGTCTGCAT (p.Glu1478_Asp1482delinsLysValSerAlaTyr)
c.4306_4318delinsAAGGTGTCTGCAT (p.Glu1436_Asp1440delinsLysValSerAlaTyr)
c.4426_4438delinsAAGGTGTCTGCAT (p.Glu1476_Asp1480delinsLysValSerAlaTyr)
c.4354_4366delinsAAGGTGTCTGCAT (p.Glu1452_Asp1456delinsLysValSerAlaTyr)
c.1120_1132delinsAAGGTGTCTGCAT (p.Glu374_Asp378delinsLysValSerAlaTyr)
c.982_994delinsAAGGTGTCTGCAT (p.Glu328_Asp332delinsLysValSerAlaTyr)
c.3544_3556delinsAAGGTGTCTGCAT (p.Glu1182_Asp1186delinsLysValSerAlaTyr)
c.4309_4321delinsAAGGTGTCTGCAT (p.Glu1437_Asp1441delinsLysValSerAlaTyr)
c.4498_4510delinsAAGGTGTCTGCAT (p.Glu1500_Asp1504delinsLysValSerAlaTyr)
c.4291_4303delinsAAGGTGTCTGCAT (p.Glu1431_Asp1435delinsLysValSerAlaTyr)
c.994_1006delinsAAGGTGTCTGCAT (p.Glu332_Asp336delinsLysValSerAlaTyr)
c.1039_1051delinsAAGGTGTCTGCAT (p.Glu347_Asp351delinsLysValSerAlaTyr)
c.4495_4507delinsAAGGTGTCTGCAT (p.Glu1499_Asp1503delinsLysValSerAlaTyr)
c.819_831delinsAAGGTGTCTGCAT
c.1006_1018delinsAAGGTGTCTGCAT (p.Glu336_Asp340delinsLysValSerAlaTyr)
c.*4215_*4227delinsAAGGTGTCTGCAT (n.*4215_*4227delinsAAGGTGTCTGCAT)
c.745_757delinsAAGGTGTCTGCAT (p.Glu249_Asp253delinsLysValSerAlaTyr)
c.748_760delinsAAGGTGTCTGCAT (p.Glu250_Asp254delinsLysValSerAlaTyr)
c.5-12589_5-12577delinsAAGGTGTCTGCAT (n.5-12589_5-12577delinsAAGGTGTCTGCAT)
c.-43-2019_-43-2007delinsAAGGTGTCTGCAT (n.-43-2019_-43-2007delinsAAGGTGTCTGCAT)
c.-98-26350_-98-26338delinsAAGGTGTCTGCAT (n.-98-26350_-98-26338delinsAAGGTGTCTGCAT)
n.323_335delinsAAGGTGTCTGCAT
n.4568_4580delinsAAGGTGTCTGCAT
n.4609_4621delinsAAGGTGTCTGCAT
17g.43076529T>ACA500146801BRCA1c.4440A>T (p.Ala1480=)
c.4443A>T (p.Ala1481=)
c.4317A>T (p.Ala1439=)
c.4437A>T (p.Ala1479=)
c.4365A>T (p.Ala1455=)
c.1131A>T (p.Ala377=)
c.993A>T (p.Ala331=)
c.3555A>T (p.Ala1185=)
c.4320A>T (p.Ala1440=)
c.4509A>T (p.Ala1503=)
c.4302A>T (p.Ala1434=)
c.1005A>T (p.Ala335=)
c.1050A>T (p.Ala350=)
c.4506A>T (p.Ala1502=)
c.830A>T
c.1017A>T (p.Ala339=)
c.*4226A>T (n.*4226A>T)
c.756A>T (p.Ala252=)
c.759A>T (p.Ala253=)
c.5-12578A>T (n.5-12578A>T)
c.-43-2008A>T (n.-43-2008A>T)
c.-98-26339A>T (n.-98-26339A>T)
n.334A>T
n.4579A>T
n.4620A>T
 dbSNP
17g.43076529T>CCA500146799BRCA1c.4440A>G (p.Ala1480=)
c.4443A>G (p.Ala1481=)
c.4317A>G (p.Ala1439=)
c.4437A>G (p.Ala1479=)
c.4365A>G (p.Ala1455=)
c.1131A>G (p.Ala377=)
c.993A>G (p.Ala331=)
c.3555A>G (p.Ala1185=)
c.4320A>G (p.Ala1440=)
c.4509A>G (p.Ala1503=)
c.4302A>G (p.Ala1434=)
c.1005A>G (p.Ala335=)
c.1050A>G (p.Ala350=)
c.4506A>G (p.Ala1502=)
c.830A>G
c.1017A>G (p.Ala339=)
c.*4226A>G (n.*4226A>G)
c.756A>G (p.Ala252=)
c.759A>G (p.Ala253=)
c.5-12578A>G (n.5-12578A>G)
c.-43-2008A>G (n.-43-2008A>G)
c.-98-26339A>G (n.-98-26339A>G)
n.334A>G
n.4579A>G
n.4620A>G
 ClinVar gnomAD v4
17g.43076529T>GCA500146800BRCA1c.4440A>C (p.Ala1480=)
c.4443A>C (p.Ala1481=)
c.4317A>C (p.Ala1439=)
c.4437A>C (p.Ala1479=)
c.4365A>C (p.Ala1455=)
c.1131A>C (p.Ala377=)
c.993A>C (p.Ala331=)
c.3555A>C (p.Ala1185=)
c.4320A>C (p.Ala1440=)
c.4509A>C (p.Ala1503=)
c.4302A>C (p.Ala1434=)
c.1005A>C (p.Ala335=)
c.1050A>C (p.Ala350=)
c.4506A>C (p.Ala1502=)
c.830A>C
c.1017A>C (p.Ala339=)
c.*4226A>C (n.*4226A>C)
c.756A>C (p.Ala252=)
c.759A>C (p.Ala253=)
c.5-12578A>C (n.5-12578A>C)
c.-43-2008A>C (n.-43-2008A>C)
c.-98-26339A>C (n.-98-26339A>C)
n.334A>C
n.4579A>C
n.4620A>C
 ClinVar dbSNP
17g.43076529T=CA2260775476BRCA1c.4440A= (p.Ala1480=)
c.4443A= (p.Ala1481=)
c.4317A= (p.Ala1439=)
c.4437A= (p.Ala1479=)
c.4365A= (p.Ala1455=)
c.1131A= (p.Ala377=)
c.993A= (p.Ala331=)
c.3555A= (p.Ala1185=)
c.4320A= (p.Ala1440=)
c.4509A= (p.Ala1503=)
c.4302A= (p.Ala1434=)
c.1005A= (p.Ala335=)
c.1050A= (p.Ala350=)
c.4506A= (p.Ala1502=)
c.830A=
c.1017A= (p.Ala339=)
c.*4226A= (n.*4226A=)
c.756A= (p.Ala252=)
c.759A= (p.Ala253=)
c.5-12578A= (n.5-12578A=)
c.-43-2008A= (n.-43-2008A=)
c.-98-26339A= (n.-98-26339A=)
n.334A=
n.4579A=
n.4620A=
17g.43076530G>ACA10592650BRCA1c.4439C>T (p.Ala1480Val)
c.4442C>T (p.Ala1481Val)
c.4316C>T (p.Ala1439Val)
c.4436C>T (p.Ala1479Val)
c.4364C>T (p.Ala1455Val)
c.1130C>T (p.Ala377Val)
c.992C>T (p.Ala331Val)
c.3554C>T (p.Ala1185Val)
c.4319C>T (p.Ala1440Val)
c.4508C>T (p.Ala1503Val)
c.4301C>T (p.Ala1434Val)
c.1004C>T (p.Ala335Val)
c.1049C>T (p.Ala350Val)
c.4505C>T (p.Ala1502Val)
c.829C>T
c.1016C>T (p.Ala339Val)
c.*4225C>T (n.*4225C>T)
c.755C>T (p.Ala252Val)
c.758C>T (p.Ala253Val)
c.5-12579C>T (n.5-12579C>T)
c.-43-2009C>T (n.-43-2009C>T)
c.-98-26340C>T (n.-98-26340C>T)
n.333C>T
n.4578C>T
n.4619C>T
 ClinVar dbSNP
17g.43076530G>CCA10592651BRCA1c.4439C>G (p.Ala1480Gly)
c.4442C>G (p.Ala1481Gly)
c.4316C>G (p.Ala1439Gly)
c.4436C>G (p.Ala1479Gly)
c.4364C>G (p.Ala1455Gly)
c.1130C>G (p.Ala377Gly)
c.992C>G (p.Ala331Gly)
c.3554C>G (p.Ala1185Gly)
c.4319C>G (p.Ala1440Gly)
c.4508C>G (p.Ala1503Gly)
c.4301C>G (p.Ala1434Gly)
c.1004C>G (p.Ala335Gly)
c.1049C>G (p.Ala350Gly)
c.4505C>G (p.Ala1502Gly)
c.829C>G
c.1016C>G (p.Ala339Gly)
c.*4225C>G (n.*4225C>G)
c.755C>G (p.Ala252Gly)
c.758C>G (p.Ala253Gly)
c.5-12579C>G (n.5-12579C>G)
c.-43-2009C>G (n.-43-2009C>G)
c.-98-26340C>G (n.-98-26340C>G)
n.333C>G
n.4578C>G
n.4619C>G
 dbSNP gnomAD v4
17g.43076530G=CA2260775477BRCA1c.4439C= (p.Ala1480=)
c.4442C= (p.Ala1481=)
c.4316C= (p.Ala1439=)
c.4436C= (p.Ala1479=)
c.4364C= (p.Ala1455=)
c.1130C= (p.Ala377=)
c.992C= (p.Ala331=)
c.3554C= (p.Ala1185=)
c.4319C= (p.Ala1440=)
c.4508C= (p.Ala1503=)
c.4301C= (p.Ala1434=)
c.1004C= (p.Ala335=)
c.1049C= (p.Ala350=)
c.4505C= (p.Ala1502=)
c.829C=
c.1016C= (p.Ala339=)
c.*4225C= (n.*4225C=)
c.755C= (p.Ala252=)
c.758C= (p.Ala253=)
c.5-12579C= (n.5-12579C=)
c.-43-2009C= (n.-43-2009C=)
c.-98-26340C= (n.-98-26340C=)
n.333C=
n.4578C=
n.4619C=
17g.43076530G>TCA10592652BRCA1c.4439C>A (p.Ala1480Glu)
c.4442C>A (p.Ala1481Glu)
c.4316C>A (p.Ala1439Glu)
c.4436C>A (p.Ala1479Glu)
c.4364C>A (p.Ala1455Glu)
c.1130C>A (p.Ala377Glu)
c.992C>A (p.Ala331Glu)
c.3554C>A (p.Ala1185Glu)
c.4319C>A (p.Ala1440Glu)
c.4508C>A (p.Ala1503Glu)
c.4301C>A (p.Ala1434Glu)
c.1004C>A (p.Ala335Glu)
c.1049C>A (p.Ala350Glu)
c.4505C>A (p.Ala1502Glu)
c.829C>A
c.1016C>A (p.Ala339Glu)
c.*4225C>A (n.*4225C>A)
c.755C>A (p.Ala252Glu)
c.758C>A (p.Ala253Glu)
c.5-12579C>A (n.5-12579C>A)
c.-43-2009C>A (n.-43-2009C>A)
c.-98-26340C>A (n.-98-26340C>A)
n.333C>A
n.4578C>A
n.4619C>A
17g.43076530_43076531delinsAGCA916080211BRCA1c.4438_4439delinsCT (p.Ala1480Leu)
c.4441_4442delinsCT (p.Ala1481Leu)
c.4315_4316delinsCT (p.Ala1439Leu)
c.4435_4436delinsCT (p.Ala1479Leu)
c.4363_4364delinsCT (p.Ala1455Leu)
c.1129_1130delinsCT (p.Ala377Leu)
c.991_992delinsCT (p.Ala331Leu)
c.3553_3554delinsCT (p.Ala1185Leu)
c.4318_4319delinsCT (p.Ala1440Leu)
c.4507_4508delinsCT (p.Ala1503Leu)
c.4300_4301delinsCT (p.Ala1434Leu)
c.1003_1004delinsCT (p.Ala335Leu)
c.1048_1049delinsCT (p.Ala350Leu)
c.4504_4505delinsCT (p.Ala1502Leu)
c.828_829delinsCT
c.1015_1016delinsCT (p.Ala339Leu)
c.*4224_*4225delinsCT (n.*4224_*4225delinsCT)
c.754_755delinsCT (p.Ala252Leu)
c.757_758delinsCT (p.Ala253Leu)
c.5-12580_5-12579delinsCT (n.5-12580_5-12579delinsCT)
c.-43-2010_-43-2009delinsCT (n.-43-2010_-43-2009delinsCT)
c.-98-26341_-98-26340delinsCT (n.-98-26341_-98-26340delinsCT)
n.332_333delinsCT
n.4577_4578delinsCT
n.4618_4619delinsCT
 ClinVar dbSNP
17g.43076530_43076531delinsGCCA2260775478BRCA1c.4438_4439delinsGC (p.Ala1480=)
c.4441_4442delinsGC (p.Ala1481=)
c.4315_4316delinsGC (p.Ala1439=)
c.4435_4436delinsGC (p.Ala1479=)
c.4363_4364delinsGC (p.Ala1455=)
c.1129_1130delinsGC (p.Ala377=)
c.991_992delinsGC (p.Ala331=)
c.3553_3554delinsGC (p.Ala1185=)
c.4318_4319delinsGC (p.Ala1440=)
c.4507_4508delinsGC (p.Ala1503=)
c.4300_4301delinsGC (p.Ala1434=)
c.1003_1004delinsGC (p.Ala335=)
c.1048_1049delinsGC (p.Ala350=)
c.4504_4505delinsGC (p.Ala1502=)
c.828_829delinsGC
c.1015_1016delinsGC (p.Ala339=)
c.*4224_*4225delinsGC (n.*4224_*4225delinsGC)
c.754_755delinsGC (p.Ala252=)
c.757_758delinsGC (p.Ala253=)
c.5-12580_5-12579delinsGC (n.5-12580_5-12579delinsGC)
c.-43-2010_-43-2009delinsGC (n.-43-2010_-43-2009delinsGC)
c.-98-26341_-98-26340delinsGC (n.-98-26341_-98-26340delinsGC)
n.332_333delinsGC
n.4577_4578delinsGC
n.4618_4619delinsGC
17g.43076530_43076531insTACA2539367041BRCA1c.4438_4439insTA (p.Ala1480ValfsTer25)
c.4441_4442insTA (p.Ala1481ValfsTer25)
c.4315_4316insTA (p.Ala1439ValfsTer25)
c.4435_4436insTA (p.Ala1479ValfsTer25)
c.4363_4364insTA (p.Ala1455ValfsTer25)
c.1129_1130insTA (p.Ala377ValfsTer25)
c.991_992insTA (p.Ala331ValfsTer25)
c.3553_3554insTA (p.Ala1185ValfsTer25)
c.4318_4319insTA (p.Ala1440ValfsTer25)
c.4507_4508insTA (p.Ala1503ValfsTer25)
c.4300_4301insTA (p.Ala1434ValfsTer25)
c.1003_1004insTA (p.Ala335ValfsTer25)
c.1048_1049insTA (p.Ala350ValfsTer25)
c.4504_4505insTA (p.Ala1502ValfsTer25)
c.828_829insTA
c.1015_1016insTA (p.Ala339ValfsTer25)
c.*4224_*4225insTA (n.*4224_*4225insTA)
c.754_755insTA (p.Ala252ValfsTer25)
c.757_758insTA (p.Ala253ValfsTer?)
c.5-12580_5-12579insTA (n.5-12580_5-12579insTA)
c.-43-2010_-43-2009insTA (n.-43-2010_-43-2009insTA)
c.-98-26341_-98-26340insTA (n.-98-26341_-98-26340insTA)
n.332_333insTA
n.4577_4578insTA
n.4618_4619insTA
17g.43076531C>ACA10592653BRCA1c.4438G>T (p.Ala1480Ser)
c.4441G>T (p.Ala1481Ser)
c.4315G>T (p.Ala1439Ser)
c.4435G>T (p.Ala1479Ser)
c.4363G>T (p.Ala1455Ser)
c.1129G>T (p.Ala377Ser)
c.991G>T (p.Ala331Ser)
c.3553G>T (p.Ala1185Ser)
c.4318G>T (p.Ala1440Ser)
c.4507G>T (p.Ala1503Ser)
c.4300G>T (p.Ala1434Ser)
c.1003G>T (p.Ala335Ser)
c.1048G>T (p.Ala350Ser)
c.4504G>T (p.Ala1502Ser)
c.828G>T
c.1015G>T (p.Ala339Ser)
c.*4224G>T (n.*4224G>T)
c.754G>T (p.Ala252Ser)
c.757G>T (p.Ala253Ser)
c.5-12580G>T (n.5-12580G>T)
c.-43-2010G>T (n.-43-2010G>T)
c.-98-26341G>T (n.-98-26341G>T)
n.332G>T
n.4577G>T
n.4618G>T
 dbSNP
17g.43076531C=CA2260775479BRCA1c.4438G= (p.Ala1480=)
c.4441G= (p.Ala1481=)
c.4315G= (p.Ala1439=)
c.4435G= (p.Ala1479=)
c.4363G= (p.Ala1455=)
c.1129G= (p.Ala377=)
c.991G= (p.Ala331=)
c.3553G= (p.Ala1185=)
c.4318G= (p.Ala1440=)
c.4507G= (p.Ala1503=)
c.4300G= (p.Ala1434=)
c.1003G= (p.Ala335=)
c.1048G= (p.Ala350=)
c.4504G= (p.Ala1502=)
c.828G=
c.1015G= (p.Ala339=)
c.*4224G= (n.*4224G=)
c.754G= (p.Ala252=)
c.757G= (p.Ala253=)
c.5-12580G= (n.5-12580G=)
c.-43-2010G= (n.-43-2010G=)
c.-98-26341G= (n.-98-26341G=)
n.332G=
n.4577G=
n.4618G=
17g.43076531C>GCA10592654BRCA1c.4438G>C (p.Ala1480Pro)
c.4441G>C (p.Ala1481Pro)
c.4315G>C (p.Ala1439Pro)
c.4435G>C (p.Ala1479Pro)
c.4363G>C (p.Ala1455Pro)
c.1129G>C (p.Ala377Pro)
c.991G>C (p.Ala331Pro)
c.3553G>C (p.Ala1185Pro)
c.4318G>C (p.Ala1440Pro)
c.4507G>C (p.Ala1503Pro)
c.4300G>C (p.Ala1434Pro)
c.1003G>C (p.Ala335Pro)
c.1048G>C (p.Ala350Pro)
c.4504G>C (p.Ala1502Pro)
c.828G>C
c.1015G>C (p.Ala339Pro)
c.*4224G>C (n.*4224G>C)
c.754G>C (p.Ala252Pro)
c.757G>C (p.Ala253Pro)
c.5-12580G>C (n.5-12580G>C)
c.-43-2010G>C (n.-43-2010G>C)
c.-98-26341G>C (n.-98-26341G>C)
n.332G>C
n.4577G>C
n.4618G>C
 dbSNP
17g.43076531C>TCA10592655BRCA1c.4438G>A (p.Ala1480Thr)
c.4441G>A (p.Ala1481Thr)
c.4315G>A (p.Ala1439Thr)
c.4435G>A (p.Ala1479Thr)
c.4363G>A (p.Ala1455Thr)
c.1129G>A (p.Ala377Thr)
c.991G>A (p.Ala331Thr)
c.3553G>A (p.Ala1185Thr)
c.4318G>A (p.Ala1440Thr)
c.4507G>A (p.Ala1503Thr)
c.4300G>A (p.Ala1434Thr)
c.1003G>A (p.Ala335Thr)
c.1048G>A (p.Ala350Thr)
c.4504G>A (p.Ala1502Thr)
c.828G>A
c.1015G>A (p.Ala339Thr)
c.*4224G>A (n.*4224G>A)
c.754G>A (p.Ala252Thr)
c.757G>A (p.Ala253Thr)
c.5-12580G>A (n.5-12580G>A)
c.-43-2010G>A (n.-43-2010G>A)
c.-98-26341G>A (n.-98-26341G>A)
n.332G>A
n.4577G>A
n.4618G>A
 ClinVar dbSNP gnomAD v4
17g.43076532A>CCA500146802BRCA1c.4437T>G (p.Ser1479=)
c.4440T>G (p.Ser1480=)
c.4314T>G (p.Ser1438=)
c.4434T>G (p.Ser1478=)
c.4362T>G (p.Ser1454=)
c.1128T>G (p.Ser376=)
c.990T>G (p.Ser330=)
c.3552T>G (p.Ser1184=)
c.4317T>G (p.Ser1439=)
c.4506T>G (p.Ser1502=)
c.4299T>G (p.Ser1433=)
c.1002T>G (p.Ser334=)
c.1047T>G (p.Ser349=)
c.4503T>G (p.Ser1501=)
c.827T>G
c.1014T>G (p.Ser338=)
c.*4223T>G (n.*4223T>G)
c.753T>G (p.Ser251=)
c.756T>G (p.Ser252=)
c.5-12581T>G (n.5-12581T>G)
c.-43-2011T>G (n.-43-2011T>G)
c.-98-26342T>G (n.-98-26342T>G)
n.331T>G
n.4576T>G
n.4617T>G
 ClinVar dbSNP
17g.43076532A>GCA500146803BRCA1c.4437T>C (p.Ser1479=)
c.4440T>C (p.Ser1480=)
c.4314T>C (p.Ser1438=)
c.4434T>C (p.Ser1478=)
c.4362T>C (p.Ser1454=)
c.1128T>C (p.Ser376=)
c.990T>C (p.Ser330=)
c.3552T>C (p.Ser1184=)
c.4317T>C (p.Ser1439=)
c.4506T>C (p.Ser1502=)
c.4299T>C (p.Ser1433=)
c.1002T>C (p.Ser334=)
c.1047T>C (p.Ser349=)
c.4503T>C (p.Ser1501=)
c.827T>C
c.1014T>C (p.Ser338=)
c.*4223T>C (n.*4223T>C)
c.753T>C (p.Ser251=)
c.756T>C (p.Ser252=)
c.5-12581T>C (n.5-12581T>C)
c.-43-2011T>C (n.-43-2011T>C)
c.-98-26342T>C (n.-98-26342T>C)
n.331T>C
n.4576T>C
n.4617T>C
 COSMIC COSMIC
17g.43076532A>TCA500146804BRCA1c.4437T>A (p.Ser1479=)
c.4440T>A (p.Ser1480=)
c.4314T>A (p.Ser1438=)
c.4434T>A (p.Ser1478=)
c.4362T>A (p.Ser1454=)
c.1128T>A (p.Ser376=)
c.990T>A (p.Ser330=)
c.3552T>A (p.Ser1184=)
c.4317T>A (p.Ser1439=)
c.4506T>A (p.Ser1502=)
c.4299T>A (p.Ser1433=)
c.1002T>A (p.Ser334=)
c.1047T>A (p.Ser349=)
c.4503T>A (p.Ser1501=)
c.827T>A
c.1014T>A (p.Ser338=)
c.*4223T>A (n.*4223T>A)
c.753T>A (p.Ser251=)
c.756T>A (p.Ser252=)
c.5-12581T>A (n.5-12581T>A)
c.-43-2011T>A (n.-43-2011T>A)
c.-98-26342T>A (n.-98-26342T>A)
n.331T>A
n.4576T>A
n.4617T>A
 ClinVar dbSNP
17g.43076533G>ACA052288BRCA1c.4436C>T (p.Ser1479Phe)
c.4439C>T (p.Ser1480Phe)
c.4313C>T (p.Ser1438Phe)
c.4433C>T (p.Ser1478Phe)
c.4361C>T (p.Ser1454Phe)
c.1127C>T (p.Ser376Phe)
c.989C>T (p.Ser330Phe)
c.3551C>T (p.Ser1184Phe)
c.4316C>T (p.Ser1439Phe)
c.4505C>T (p.Ser1502Phe)
c.4298C>T (p.Ser1433Phe)
c.1001C>T (p.Ser334Phe)
c.1046C>T (p.Ser349Phe)
c.4502C>T (p.Ser1501Phe)
c.826C>T
c.1013C>T (p.Ser338Phe)
c.*4222C>T (n.*4222C>T)
c.752C>T (p.Ser251Phe)
c.755C>T (p.Ser252Phe)
c.5-12582C>T (n.5-12582C>T)
c.-43-2012C>T (n.-43-2012C>T)
c.-98-26343C>T (n.-98-26343C>T)
n.330C>T
n.4575C>T
n.4616C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43076533G>CCA10592656BRCA1c.4436C>G (p.Ser1479Cys)
c.4439C>G (p.Ser1480Cys)
c.4313C>G (p.Ser1438Cys)
c.4433C>G (p.Ser1478Cys)
c.4361C>G (p.Ser1454Cys)
c.1127C>G (p.Ser376Cys)
c.989C>G (p.Ser330Cys)
c.3551C>G (p.Ser1184Cys)
c.4316C>G (p.Ser1439Cys)
c.4505C>G (p.Ser1502Cys)
c.4298C>G (p.Ser1433Cys)
c.1001C>G (p.Ser334Cys)
c.1046C>G (p.Ser349Cys)
c.4502C>G (p.Ser1501Cys)
c.826C>G
c.1013C>G (p.Ser338Cys)
c.*4222C>G (n.*4222C>G)
c.752C>G (p.Ser251Cys)
c.755C>G (p.Ser252Cys)
c.5-12582C>G (n.5-12582C>G)
c.-43-2012C>G (n.-43-2012C>G)
c.-98-26343C>G (n.-98-26343C>G)
n.330C>G
n.4575C>G
n.4616C>G
 ClinVar dbSNP
17g.43076533G=CA2260775480BRCA1c.4436C= (p.Ser1479=)
c.4439C= (p.Ser1480=)
c.4313C= (p.Ser1438=)
c.4433C= (p.Ser1478=)
c.4361C= (p.Ser1454=)
c.1127C= (p.Ser376=)
c.989C= (p.Ser330=)
c.3551C= (p.Ser1184=)
c.4316C= (p.Ser1439=)
c.4505C= (p.Ser1502=)
c.4298C= (p.Ser1433=)
c.1001C= (p.Ser334=)
c.1046C= (p.Ser349=)
c.4502C= (p.Ser1501=)
c.826C=
c.1013C= (p.Ser338=)
c.*4222C= (n.*4222C=)
c.752C= (p.Ser251=)
c.755C= (p.Ser252=)
c.5-12582C= (n.5-12582C=)
c.-43-2012C= (n.-43-2012C=)
c.-98-26343C= (n.-98-26343C=)
n.330C=
n.4575C=
n.4616C=
17g.43076533G>TCA10592657BRCA1c.4436C>A (p.Ser1479Tyr)
c.4439C>A (p.Ser1480Tyr)
c.4313C>A (p.Ser1438Tyr)
c.4433C>A (p.Ser1478Tyr)
c.4361C>A (p.Ser1454Tyr)
c.1127C>A (p.Ser376Tyr)
c.989C>A (p.Ser330Tyr)
c.3551C>A (p.Ser1184Tyr)
c.4316C>A (p.Ser1439Tyr)
c.4505C>A (p.Ser1502Tyr)
c.4298C>A (p.Ser1433Tyr)
c.1001C>A (p.Ser334Tyr)
c.1046C>A (p.Ser349Tyr)
c.4502C>A (p.Ser1501Tyr)
c.826C>A
c.1013C>A (p.Ser338Tyr)
c.*4222C>A (n.*4222C>A)
c.752C>A (p.Ser251Tyr)
c.755C>A (p.Ser252Tyr)
c.5-12582C>A (n.5-12582C>A)
c.-43-2012C>A (n.-43-2012C>A)
c.-98-26343C>A (n.-98-26343C>A)
n.330C>A
n.4575C>A
n.4616C>A
 dbSNP
17g.43076534A=CA2260775481BRCA1c.4435T= (p.Ser1479=)
c.4438T= (p.Ser1480=)
c.4312T= (p.Ser1438=)
c.4432T= (p.Ser1478=)
c.4360T= (p.Ser1454=)
c.1126T= (p.Ser376=)
c.988T= (p.Ser330=)
c.3550T= (p.Ser1184=)
c.4315T= (p.Ser1439=)
c.4504T= (p.Ser1502=)
c.4297T= (p.Ser1433=)
c.1000T= (p.Ser334=)
c.1045T= (p.Ser349=)
c.4501T= (p.Ser1501=)
c.825T=
c.1012T= (p.Ser338=)
c.*4221T= (n.*4221T=)
c.751T= (p.Ser251=)
c.754T= (p.Ser252=)
c.5-12583T= (n.5-12583T=)
c.-43-2013T= (n.-43-2013T=)
c.-98-26344T= (n.-98-26344T=)
n.329T=
n.4574T=
n.4615T=
17g.43076534A>CCA10592658BRCA1c.4435T>G (p.Ser1479Ala)
c.4438T>G (p.Ser1480Ala)
c.4312T>G (p.Ser1438Ala)
c.4432T>G (p.Ser1478Ala)
c.4360T>G (p.Ser1454Ala)
c.1126T>G (p.Ser376Ala)
c.988T>G (p.Ser330Ala)
c.3550T>G (p.Ser1184Ala)
c.4315T>G (p.Ser1439Ala)
c.4504T>G (p.Ser1502Ala)
c.4297T>G (p.Ser1433Ala)
c.1000T>G (p.Ser334Ala)
c.1045T>G (p.Ser349Ala)
c.4501T>G (p.Ser1501Ala)
c.825T>G
c.1012T>G (p.Ser338Ala)
c.*4221T>G (n.*4221T>G)
c.751T>G (p.Ser251Ala)
c.754T>G (p.Ser252Ala)
c.5-12583T>G (n.5-12583T>G)
c.-43-2013T>G (n.-43-2013T>G)
c.-98-26344T>G (n.-98-26344T>G)
n.329T>G
n.4574T>G
n.4615T>G
17g.43076534A>GCA10592659BRCA1c.4435T>C (p.Ser1479Pro)
c.4438T>C (p.Ser1480Pro)
c.4312T>C (p.Ser1438Pro)
c.4432T>C (p.Ser1478Pro)
c.4360T>C (p.Ser1454Pro)
c.1126T>C (p.Ser376Pro)
c.988T>C (p.Ser330Pro)
c.3550T>C (p.Ser1184Pro)
c.4315T>C (p.Ser1439Pro)
c.4504T>C (p.Ser1502Pro)
c.4297T>C (p.Ser1433Pro)
c.1000T>C (p.Ser334Pro)
c.1045T>C (p.Ser349Pro)
c.4501T>C (p.Ser1501Pro)
c.825T>C
c.1012T>C (p.Ser338Pro)
c.*4221T>C (n.*4221T>C)
c.751T>C (p.Ser251Pro)
c.754T>C (p.Ser252Pro)
c.5-12583T>C (n.5-12583T>C)
c.-43-2013T>C (n.-43-2013T>C)
c.-98-26344T>C (n.-98-26344T>C)
n.329T>C
n.4574T>C
n.4615T>C
 ClinVar dbSNP
17g.43076534A>TCA10592660BRCA1c.4435T>A (p.Ser1479Thr)
c.4438T>A (p.Ser1480Thr)
c.4312T>A (p.Ser1438Thr)
c.4432T>A (p.Ser1478Thr)
c.4360T>A (p.Ser1454Thr)
c.1126T>A (p.Ser376Thr)
c.988T>A (p.Ser330Thr)
c.3550T>A (p.Ser1184Thr)
c.4315T>A (p.Ser1439Thr)
c.4504T>A (p.Ser1502Thr)
c.4297T>A (p.Ser1433Thr)
c.1000T>A (p.Ser334Thr)
c.1045T>A (p.Ser349Thr)
c.4501T>A (p.Ser1501Thr)
c.825T>A
c.1012T>A (p.Ser338Thr)
c.*4221T>A (n.*4221T>A)
c.751T>A (p.Ser251Thr)
c.754T>A (p.Ser252Thr)
c.5-12583T>A (n.5-12583T>A)
c.-43-2013T>A (n.-43-2013T>A)
c.-98-26344T>A (n.-98-26344T>A)
n.329T>A
n.4574T>A
n.4615T>A
 dbSNP
17g.43076534dupCA913188854BRCA1c.4435dup (p.Ser1479PhefsTer4)
c.4438dup (p.Ser1480PhefsTer4)
c.4312dup (p.Ser1438PhefsTer4)
c.4432dup (p.Ser1478PhefsTer4)
c.4360dup (p.Ser1454PhefsTer4)
c.1126dup (p.Ser376PhefsTer4)
c.988dup (p.Ser330PhefsTer4)
c.3550dup (p.Ser1184PhefsTer4)
c.4315dup (p.Ser1439PhefsTer4)
c.4504dup (p.Ser1502PhefsTer4)
c.4297dup (p.Ser1433PhefsTer4)
c.1000dup (p.Ser334PhefsTer4)
c.1045dup (p.Ser349PhefsTer4)
c.4501dup (p.Ser1501PhefsTer4)
c.825dup
c.1012dup (p.Ser338PhefsTer4)
c.*4221dup (n.*4221dup)
c.751dup (p.Ser251PhefsTer4)
c.754dup (p.Ser252PhefsTer4)
c.5-12583dup (n.5-12583dup)
c.-43-2013dup (n.-43-2013dup)
c.-98-26344dup (n.-98-26344dup)
n.329dup
n.4574dup
n.4615dup
 ClinVar dbSNP
17g.43076535C>ACA500146805BRCA1c.4434G>T (p.Val1478=)
c.4437G>T (p.Val1479=)
c.4311G>T (p.Val1437=)
c.4431G>T (p.Val1477=)
c.4359G>T (p.Val1453=)
c.1125G>T (p.Val375=)
c.987G>T (p.Val329=)
c.3549G>T (p.Val1183=)
c.4314G>T (p.Val1438=)
c.4503G>T (p.Val1501=)
c.4296G>T (p.Val1432=)
c.999G>T (p.Val333=)
c.1044G>T (p.Val348=)
c.4500G>T (p.Val1500=)
c.824G>T
c.1011G>T (p.Val337=)
c.*4220G>T (n.*4220G>T)
c.750G>T (p.Val250=)
c.753G>T (p.Val251=)
c.5-12584G>T (n.5-12584G>T)
c.-43-2014G>T (n.-43-2014G>T)
c.-98-26345G>T (n.-98-26345G>T)
n.328G>T
n.4573G>T
n.4614G>T
 ClinVar
17g.43076535C=CA2260775482BRCA1c.4434G= (p.Val1478=)
c.4437G= (p.Val1479=)
c.4311G= (p.Val1437=)
c.4431G= (p.Val1477=)
c.4359G= (p.Val1453=)
c.1125G= (p.Val375=)
c.987G= (p.Val329=)
c.3549G= (p.Val1183=)
c.4314G= (p.Val1438=)
c.4503G= (p.Val1501=)
c.4296G= (p.Val1432=)
c.999G= (p.Val333=)
c.1044G= (p.Val348=)
c.4500G= (p.Val1500=)
c.824G=
c.1011G= (p.Val337=)
c.*4220G= (n.*4220G=)
c.750G= (p.Val250=)
c.753G= (p.Val251=)
c.5-12584G= (n.5-12584G=)
c.-43-2014G= (n.-43-2014G=)
c.-98-26345G= (n.-98-26345G=)
n.328G=
n.4573G=
n.4614G=
17g.43076535C>GCA500146806BRCA1c.4434G>C (p.Val1478=)
c.4437G>C (p.Val1479=)
c.4311G>C (p.Val1437=)
c.4431G>C (p.Val1477=)
c.4359G>C (p.Val1453=)
c.1125G>C (p.Val375=)
c.987G>C (p.Val329=)
c.3549G>C (p.Val1183=)
c.4314G>C (p.Val1438=)
c.4503G>C (p.Val1501=)
c.4296G>C (p.Val1432=)
c.999G>C (p.Val333=)
c.1044G>C (p.Val348=)
c.4500G>C (p.Val1500=)
c.824G>C
c.1011G>C (p.Val337=)
c.*4220G>C (n.*4220G>C)
c.750G>C (p.Val250=)
c.753G>C (p.Val251=)
c.5-12584G>C (n.5-12584G>C)
c.-43-2014G>C (n.-43-2014G>C)
c.-98-26345G>C (n.-98-26345G>C)
n.328G>C
n.4573G>C
n.4614G>C
 dbSNP
17g.43076535C>TCA500146807BRCA1c.4434G>A (p.Val1478=)
c.4437G>A (p.Val1479=)
c.4311G>A (p.Val1437=)
c.4431G>A (p.Val1477=)
c.4359G>A (p.Val1453=)
c.1125G>A (p.Val375=)
c.987G>A (p.Val329=)
c.3549G>A (p.Val1183=)
c.4314G>A (p.Val1438=)
c.4503G>A (p.Val1501=)
c.4296G>A (p.Val1432=)
c.999G>A (p.Val333=)
c.1044G>A (p.Val348=)
c.4500G>A (p.Val1500=)
c.824G>A
c.1011G>A (p.Val337=)
c.*4220G>A (n.*4220G>A)
c.750G>A (p.Val250=)
c.753G>A (p.Val251=)
c.5-12584G>A (n.5-12584G>A)
c.-43-2014G>A (n.-43-2014G>A)
c.-98-26345G>A (n.-98-26345G>A)
n.328G>A
n.4573G>A
n.4614G>A
 ClinVar dbSNP
17g.43076536A>CCA10592661BRCA1c.4433T>G (p.Val1478Gly)
c.4436T>G (p.Val1479Gly)
c.4310T>G (p.Val1437Gly)
c.4430T>G (p.Val1477Gly)
c.4358T>G (p.Val1453Gly)
c.1124T>G (p.Val375Gly)
c.986T>G (p.Val329Gly)
c.3548T>G (p.Val1183Gly)
c.4313T>G (p.Val1438Gly)
c.4502T>G (p.Val1501Gly)
c.4295T>G (p.Val1432Gly)
c.998T>G (p.Val333Gly)
c.1043T>G (p.Val348Gly)
c.4499T>G (p.Val1500Gly)
c.823T>G
c.1010T>G (p.Val337Gly)
c.*4219T>G (n.*4219T>G)
c.749T>G (p.Val250Gly)
c.752T>G (p.Val251Gly)
c.5-12585T>G (n.5-12585T>G)
c.-43-2015T>G (n.-43-2015T>G)
c.-98-26346T>G (n.-98-26346T>G)
n.327T>G
n.4572T>G
n.4613T>G
17g.43076536A>GCA10592662BRCA1c.4433T>C (p.Val1478Ala)
c.4436T>C (p.Val1479Ala)
c.4310T>C (p.Val1437Ala)
c.4430T>C (p.Val1477Ala)
c.4358T>C (p.Val1453Ala)
c.1124T>C (p.Val375Ala)
c.986T>C (p.Val329Ala)
c.3548T>C (p.Val1183Ala)
c.4313T>C (p.Val1438Ala)
c.4502T>C (p.Val1501Ala)
c.4295T>C (p.Val1432Ala)
c.998T>C (p.Val333Ala)
c.1043T>C (p.Val348Ala)
c.4499T>C (p.Val1500Ala)
c.823T>C
c.1010T>C (p.Val337Ala)
c.*4219T>C (n.*4219T>C)
c.749T>C (p.Val250Ala)
c.752T>C (p.Val251Ala)
c.5-12585T>C (n.5-12585T>C)
c.-43-2015T>C (n.-43-2015T>C)
c.-98-26346T>C (n.-98-26346T>C)
n.327T>C
n.4572T>C
n.4613T>C
17g.43076536A>TCA10592663BRCA1c.4433T>A (p.Val1478Glu)
c.4436T>A (p.Val1479Glu)
c.4310T>A (p.Val1437Glu)
c.4430T>A (p.Val1477Glu)
c.4358T>A (p.Val1453Glu)
c.1124T>A (p.Val375Glu)
c.986T>A (p.Val329Glu)
c.3548T>A (p.Val1183Glu)
c.4313T>A (p.Val1438Glu)
c.4502T>A (p.Val1501Glu)
c.4295T>A (p.Val1432Glu)
c.998T>A (p.Val333Glu)
c.1043T>A (p.Val348Glu)
c.4499T>A (p.Val1500Glu)
c.823T>A
c.1010T>A (p.Val337Glu)
c.*4219T>A (n.*4219T>A)
c.749T>A (p.Val250Glu)
c.752T>A (p.Val251Glu)
c.5-12585T>A (n.5-12585T>A)
c.-43-2015T>A (n.-43-2015T>A)
c.-98-26346T>A (n.-98-26346T>A)
n.327T>A
n.4572T>A
n.4613T>A
 dbSNP
17g.43076536_43076537delinsACCA2260775483BRCA1c.4432_4433delinsGT (p.Val1478=)
c.4435_4436delinsGT (p.Val1479=)
c.4309_4310delinsGT (p.Val1437=)
c.4429_4430delinsGT (p.Val1477=)
c.4357_4358delinsGT (p.Val1453=)
c.1123_1124delinsGT (p.Val375=)
c.985_986delinsGT (p.Val329=)
c.3547_3548delinsGT (p.Val1183=)
c.4312_4313delinsGT (p.Val1438=)
c.4501_4502delinsGT (p.Val1501=)
c.4294_4295delinsGT (p.Val1432=)
c.997_998delinsGT (p.Val333=)
c.1042_1043delinsGT (p.Val348=)
c.4498_4499delinsGT (p.Val1500=)
c.822_823delinsGT
c.1009_1010delinsGT (p.Val337=)
c.*4218_*4219delinsGT (n.*4218_*4219delinsGT)
c.748_749delinsGT (p.Val250=)
c.751_752delinsGT (p.Val251=)
c.5-12586_5-12585delinsGT (n.5-12586_5-12585delinsGT)
c.-43-2016_-43-2015delinsGT (n.-43-2016_-43-2015delinsGT)
c.-98-26347_-98-26346delinsGT (n.-98-26347_-98-26346delinsGT)
n.326_327delinsGT
n.4571_4572delinsGT
n.4612_4613delinsGT
17g.43076536_43076537insAGGACCTATGTTTAAGGATCAGGTTACTGAACCTAATTCTTCATCTGGAGAAGCA2549854290BRCA1c.4432_4433insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1478AlafsTer12)
c.4435_4436insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1479AlafsTer12)
c.4309_4310insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1437AlafsTer12)
c.4429_4430insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1477AlafsTer12)
c.4357_4358insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1453AlafsTer12)
c.1123_1124insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val375AlafsTer12)
c.985_986insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val329AlafsTer12)
c.3547_3548insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1183AlafsTer12)
c.4312_4313insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1438AlafsTer12)
c.4501_4502insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1501AlafsTer12)
c.4294_4295insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1432AlafsTer12)
c.997_998insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val333AlafsTer12)
c.1042_1043insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val348AlafsTer12)
c.4498_4499insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val1500AlafsTer12)
c.822_823insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT
c.1009_1010insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val337AlafsTer12)
c.*4218_*4219insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (n.*4218_*4219insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT)
c.748_749insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val250AlafsTer12)
c.751_752insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (p.Val251AlafsTer12)
c.5-12586_5-12585insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (n.5-12586_5-12585insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT)
c.-43-2016_-43-2015insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (n.-43-2016_-43-2015insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT)
c.-98-26347_-98-26346insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT (n.-98-26347_-98-26346insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT)
n.326_327insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT
n.4571_4572insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT
n.4612_4613insCTTCTCCAGATGAAGAATTAGGTTCAGTAACCTGATCCTTAAACATAGGTCCT
17g.43076537C>ACA10592664BRCA1c.4432G>T (p.Val1478Leu)
c.4435G>T (p.Val1479Leu)
c.4309G>T (p.Val1437Leu)
c.4429G>T (p.Val1477Leu)
c.4357G>T (p.Val1453Leu)
c.1123G>T (p.Val375Leu)
c.985G>T (p.Val329Leu)
c.3547G>T (p.Val1183Leu)
c.4312G>T (p.Val1438Leu)
c.4501G>T (p.Val1501Leu)
c.4294G>T (p.Val1432Leu)
c.997G>T (p.Val333Leu)
c.1042G>T (p.Val348Leu)
c.4498G>T (p.Val1500Leu)
c.822G>T
c.1009G>T (p.Val337Leu)
c.*4218G>T (n.*4218G>T)
c.726G>T
c.748G>T (p.Val250Leu)
c.751G>T (p.Val251Leu)
c.5-12586G>T (n.5-12586G>T)
c.-43-2016G>T (n.-43-2016G>T)
c.-98-26347G>T (n.-98-26347G>T)
n.326G>T
n.4571G>T
n.4612G>T
 dbSNP
17g.43076537C=CA2260775484BRCA1c.4432G= (p.Val1478=)
c.4435G= (p.Val1479=)
c.4309G= (p.Val1437=)
c.4429G= (p.Val1477=)
c.4357G= (p.Val1453=)
c.1123G= (p.Val375=)
c.985G= (p.Val329=)
c.3547G= (p.Val1183=)
c.4312G= (p.Val1438=)
c.4501G= (p.Val1501=)
c.4294G= (p.Val1432=)
c.997G= (p.Val333=)
c.1042G= (p.Val348=)
c.4498G= (p.Val1500=)
c.822G=
c.1009G= (p.Val337=)
c.*4218G= (n.*4218G=)
c.726G=
c.748G= (p.Val250=)
c.751G= (p.Val251=)
c.5-12586G= (n.5-12586G=)
c.-43-2016G= (n.-43-2016G=)
c.-98-26347G= (n.-98-26347G=)
n.326G=
n.4571G=
n.4612G=
17g.43076537C>GCA002853BRCA1c.4432G>C (p.Val1478Leu)
c.4435G>C (p.Val1479Leu)
c.4309G>C (p.Val1437Leu)
c.4429G>C (p.Val1477Leu)
c.4357G>C (p.Val1453Leu)
c.1123G>C (p.Val375Leu)
c.985G>C (p.Val329Leu)
c.3547G>C (p.Val1183Leu)
c.4312G>C (p.Val1438Leu)
c.4501G>C (p.Val1501Leu)
c.4294G>C (p.Val1432Leu)
c.997G>C (p.Val333Leu)
c.1042G>C (p.Val348Leu)
c.4498G>C (p.Val1500Leu)
c.822G>C
c.1009G>C (p.Val337Leu)
c.*4218G>C (n.*4218G>C)
c.726G>C
c.748G>C (p.Val250Leu)
c.751G>C (p.Val251Leu)
c.5-12586G>C (n.5-12586G>C)
c.-43-2016G>C (n.-43-2016G>C)
c.-98-26347G>C (n.-98-26347G>C)
n.326G>C
n.4571G>C
n.4612G>C
 ClinVar dbSNP
17g.43076537C>TCA10592665BRCA1c.4432G>A (p.Val1478Met)
c.4435G>A (p.Val1479Met)
c.4309G>A (p.Val1437Met)
c.4429G>A (p.Val1477Met)
c.4357G>A (p.Val1453Met)
c.1123G>A (p.Val375Met)
c.985G>A (p.Val329Met)
c.3547G>A (p.Val1183Met)
c.4312G>A (p.Val1438Met)
c.4501G>A (p.Val1501Met)
c.4294G>A (p.Val1432Met)
c.997G>A (p.Val333Met)
c.1042G>A (p.Val348Met)
c.4498G>A (p.Val1500Met)
c.822G>A
c.1009G>A (p.Val337Met)
c.*4218G>A (n.*4218G>A)
c.726G>A
c.748G>A (p.Val250Met)
c.751G>A (p.Val251Met)
c.5-12586G>A (n.5-12586G>A)
c.-43-2016G>A (n.-43-2016G>A)
c.-98-26347G>A (n.-98-26347G>A)
n.326G>A
n.4571G>A
n.4612G>A
 ClinVar dbSNP
17g.43076538delCA002852BRCA1c.4432del (p.Val1478CysfsTer26)
c.4435del (p.Val1479CysfsTer26)
c.4309del (p.Val1437CysfsTer26)
c.4429del (p.Val1477CysfsTer26)
c.4357del (p.Val1453CysfsTer26)
c.1123del (p.Val375CysfsTer26)
c.985del (p.Val329CysfsTer26)
c.3547del (p.Val1183CysfsTer26)
c.4312del (p.Val1438CysfsTer26)
c.4501del (p.Val1501CysfsTer26)
c.4294del (p.Val1432CysfsTer26)
c.997del (p.Val333CysfsTer26)
c.1042del (p.Val348CysfsTer26)
c.4498del (p.Val1500CysfsTer26)
c.822del
c.1009del (p.Val337CysfsTer26)
c.*4218del (n.*4218del)
c.726del
c.748del (p.Val250CysfsTer26)
c.751del (p.Val251CysfsTer?)
c.5-12586del (n.5-12586del)
c.-43-2016del (n.-43-2016del)
c.-98-26347del (n.-98-26347del)
n.326del
n.4571del
n.4612del
 ClinVar dbSNP
17g.43076538C>ACA10592666BRCA1c.4431G>T (p.Glu1477Asp)
c.4434G>T (p.Glu1478Asp)
c.4308G>T (p.Glu1436Asp)
c.4428G>T (p.Glu1476Asp)
c.4356G>T (p.Glu1452Asp)
c.1122G>T (p.Glu374Asp)
c.984G>T (p.Glu328Asp)
c.3546G>T (p.Glu1182Asp)
c.4311G>T (p.Glu1437Asp)
c.4500G>T (p.Glu1500Asp)
c.4293G>T (p.Glu1431Asp)
c.996G>T (p.Glu332Asp)
c.1041G>T (p.Glu347Asp)
c.4497G>T (p.Glu1499Asp)
c.821G>T
c.1008G>T (p.Glu336Asp)
c.*4217G>T (n.*4217G>T)
c.725G>T
c.747G>T (p.Glu249Asp)
c.750G>T (p.Glu250Asp)
c.5-12587G>T (n.5-12587G>T)
c.-43-2017G>T (n.-43-2017G>T)
c.-98-26348G>T (n.-98-26348G>T)
n.325G>T
n.4570G>T
n.4611G>T
 ClinVar dbSNP
17g.43076538C=CA2260775485BRCA1c.4431G= (p.Glu1477=)
c.4434G= (p.Glu1478=)
c.4308G= (p.Glu1436=)
c.4428G= (p.Glu1476=)
c.4356G= (p.Glu1452=)
c.1122G= (p.Glu374=)
c.984G= (p.Glu328=)
c.3546G= (p.Glu1182=)
c.4311G= (p.Glu1437=)
c.4500G= (p.Glu1500=)
c.4293G= (p.Glu1431=)
c.996G= (p.Glu332=)
c.1041G= (p.Glu347=)
c.4497G= (p.Glu1499=)
c.821G=
c.1008G= (p.Glu336=)
c.*4217G= (n.*4217G=)
c.725G=
c.747G= (p.Glu249=)
c.750G= (p.Glu250=)
c.5-12587G= (n.5-12587G=)
c.-43-2017G= (n.-43-2017G=)
c.-98-26348G= (n.-98-26348G=)
n.325G=
n.4570G=
n.4611G=
17g.43076538C>GCA10592667BRCA1c.4431G>C (p.Glu1477Asp)
c.4434G>C (p.Glu1478Asp)
c.4308G>C (p.Glu1436Asp)
c.4428G>C (p.Glu1476Asp)
c.4356G>C (p.Glu1452Asp)
c.1122G>C (p.Glu374Asp)
c.984G>C (p.Glu328Asp)
c.3546G>C (p.Glu1182Asp)
c.4311G>C (p.Glu1437Asp)
c.4500G>C (p.Glu1500Asp)
c.4293G>C (p.Glu1431Asp)
c.996G>C (p.Glu332Asp)
c.1041G>C (p.Glu347Asp)
c.4497G>C (p.Glu1499Asp)
c.821G>C
c.1008G>C (p.Glu336Asp)
c.*4217G>C (n.*4217G>C)
c.725G>C
c.747G>C (p.Glu249Asp)
c.750G>C (p.Glu250Asp)
c.5-12587G>C (n.5-12587G>C)
c.-43-2017G>C (n.-43-2017G>C)
c.-98-26348G>C (n.-98-26348G>C)
n.325G>C
n.4570G>C
n.4611G>C
 ClinVar dbSNP
17g.43076538C>TCA500146808BRCA1c.4431G>A (p.Glu1477=)
c.4434G>A (p.Glu1478=)
c.4308G>A (p.Glu1436=)
c.4428G>A (p.Glu1476=)
c.4356G>A (p.Glu1452=)
c.1122G>A (p.Glu374=)
c.984G>A (p.Glu328=)
c.3546G>A (p.Glu1182=)
c.4311G>A (p.Glu1437=)
c.4500G>A (p.Glu1500=)
c.4293G>A (p.Glu1431=)
c.996G>A (p.Glu332=)
c.1041G>A (p.Glu347=)
c.4497G>A (p.Glu1499=)
c.821G>A
c.1008G>A (p.Glu336=)
c.*4217G>A (n.*4217G>A)
c.725G>A
c.747G>A (p.Glu249=)
c.750G>A (p.Glu250=)
c.5-12587G>A (n.5-12587G>A)
c.-43-2017G>A (n.-43-2017G>A)
c.-98-26348G>A (n.-98-26348G>A)
n.325G>A
n.4570G>A
n.4611G>A
 ClinVar dbSNP
17g.43076539T>ACA10592668BRCA1c.4430A>T (p.Glu1477Val)
c.4433A>T (p.Glu1478Val)
c.4307A>T (p.Glu1436Val)
c.4427A>T (p.Glu1476Val)
c.4355A>T (p.Glu1452Val)
c.1121A>T (p.Glu374Val)
c.983A>T (p.Glu328Val)
c.3545A>T (p.Glu1182Val)
c.4310A>T (p.Glu1437Val)
c.4499A>T (p.Glu1500Val)
c.4292A>T (p.Glu1431Val)
c.995A>T (p.Glu332Val)
c.1040A>T (p.Glu347Val)
c.4496A>T (p.Glu1499Val)
c.820A>T
c.1007A>T (p.Glu336Val)
c.*4216A>T (n.*4216A>T)
c.724A>T
c.746A>T (p.Glu249Val)
c.749A>T (p.Glu250Val)
c.5-12588A>T (n.5-12588A>T)
c.-43-2018A>T (n.-43-2018A>T)
c.-98-26349A>T (n.-98-26349A>T)
n.324A>T
n.4569A>T
n.4610A>T
 dbSNP
17g.43076539T>CCA10592669BRCA1c.4430A>G (p.Glu1477Gly)
c.4433A>G (p.Glu1478Gly)
c.4307A>G (p.Glu1436Gly)
c.4427A>G (p.Glu1476Gly)
c.4355A>G (p.Glu1452Gly)
c.1121A>G (p.Glu374Gly)
c.983A>G (p.Glu328Gly)
c.3545A>G (p.Glu1182Gly)
c.4310A>G (p.Glu1437Gly)
c.4499A>G (p.Glu1500Gly)
c.4292A>G (p.Glu1431Gly)
c.995A>G (p.Glu332Gly)
c.1040A>G (p.Glu347Gly)
c.4496A>G (p.Glu1499Gly)
c.820A>G
c.1007A>G (p.Glu336Gly)
c.*4216A>G (n.*4216A>G)
c.724A>G
c.746A>G (p.Glu249Gly)
c.749A>G (p.Glu250Gly)
c.5-12588A>G (n.5-12588A>G)
c.-43-2018A>G (n.-43-2018A>G)
c.-98-26349A>G (n.-98-26349A>G)
n.324A>G
n.4569A>G
n.4610A>G
 dbSNP
17g.43076539T>GCA10592670BRCA1c.4430A>C (p.Glu1477Ala)
c.4433A>C (p.Glu1478Ala)
c.4307A>C (p.Glu1436Ala)
c.4427A>C (p.Glu1476Ala)
c.4355A>C (p.Glu1452Ala)
c.1121A>C (p.Glu374Ala)
c.983A>C (p.Glu328Ala)
c.3545A>C (p.Glu1182Ala)
c.4310A>C (p.Glu1437Ala)
c.4499A>C (p.Glu1500Ala)
c.4292A>C (p.Glu1431Ala)
c.995A>C (p.Glu332Ala)
c.1040A>C (p.Glu347Ala)
c.4496A>C (p.Glu1499Ala)
c.820A>C
c.1007A>C (p.Glu336Ala)
c.*4216A>C (n.*4216A>C)
c.724A>C
c.746A>C (p.Glu249Ala)
c.749A>C (p.Glu250Ala)
c.5-12588A>C (n.5-12588A>C)
c.-43-2018A>C (n.-43-2018A>C)
c.-98-26349A>C (n.-98-26349A>C)
n.324A>C
n.4569A>C
n.4610A>C
17g.43076540C>ACA10580519BRCA1c.4429G>T (p.Glu1477Ter)
c.4432G>T (p.Glu1478Ter)
c.4306G>T (p.Glu1436Ter)
c.4426G>T (p.Glu1476Ter)
c.4354G>T (p.Glu1452Ter)
c.1120G>T (p.Glu374Ter)
c.982G>T (p.Glu328Ter)
c.3544G>T (p.Glu1182Ter)
c.4309G>T (p.Glu1437Ter)
c.4498G>T (p.Glu1500Ter)
c.4291G>T (p.Glu1431Ter)
c.994G>T (p.Glu332Ter)
c.1039G>T (p.Glu347Ter)
c.4495G>T (p.Glu1499Ter)
c.819G>T
c.1006G>T (p.Glu336Ter)
c.*4215G>T (n.*4215G>T)
c.723G>T
c.745G>T (p.Glu249Ter)
c.748G>T (p.Glu250Ter)
c.5-12589G>T (n.5-12589G>T)
c.-43-2019G>T (n.-43-2019G>T)
c.-98-26350G>T (n.-98-26350G>T)
n.323G>T
n.4568G>T
n.4609G>T
 ClinVar dbSNP
17g.43076540C=CA2260775486BRCA1c.4429G= (p.Glu1477=)
c.4432G= (p.Glu1478=)
c.4306G= (p.Glu1436=)
c.4426G= (p.Glu1476=)
c.4354G= (p.Glu1452=)
c.1120G= (p.Glu374=)
c.982G= (p.Glu328=)
c.3544G= (p.Glu1182=)
c.4309G= (p.Glu1437=)
c.4498G= (p.Glu1500=)
c.4291G= (p.Glu1431=)
c.994G= (p.Glu332=)
c.1039G= (p.Glu347=)
c.4495G= (p.Glu1499=)
c.819G=
c.1006G= (p.Glu336=)
c.*4215G= (n.*4215G=)
c.723G=
c.745G= (p.Glu249=)
c.748G= (p.Glu250=)
c.5-12589G= (n.5-12589G=)
c.-43-2019G= (n.-43-2019G=)
c.-98-26350G= (n.-98-26350G=)
n.323G=
n.4568G=
n.4609G=
17g.43076540C>GCA10592671BRCA1c.4429G>C (p.Glu1477Gln)
c.4432G>C (p.Glu1478Gln)
c.4306G>C (p.Glu1436Gln)
c.4426G>C (p.Glu1476Gln)
c.4354G>C (p.Glu1452Gln)
c.1120G>C (p.Glu374Gln)
c.982G>C (p.Glu328Gln)
c.3544G>C (p.Glu1182Gln)
c.4309G>C (p.Glu1437Gln)
c.4498G>C (p.Glu1500Gln)
c.4291G>C (p.Glu1431Gln)
c.994G>C (p.Glu332Gln)
c.1039G>C (p.Glu347Gln)
c.4495G>C (p.Glu1499Gln)
c.819G>C
c.1006G>C (p.Glu336Gln)
c.*4215G>C (n.*4215G>C)
c.723G>C
c.745G>C (p.Glu249Gln)
c.748G>C (p.Glu250Gln)
c.5-12589G>C (n.5-12589G>C)
c.-43-2019G>C (n.-43-2019G>C)
c.-98-26350G>C (n.-98-26350G>C)
n.323G>C
n.4568G>C
n.4609G>C
 dbSNP
17g.43076540C>TCA10592672BRCA1c.4429G>A (p.Glu1477Lys)
c.4432G>A (p.Glu1478Lys)
c.4306G>A (p.Glu1436Lys)
c.4426G>A (p.Glu1476Lys)
c.4354G>A (p.Glu1452Lys)
c.1120G>A (p.Glu374Lys)
c.982G>A (p.Glu328Lys)
c.3544G>A (p.Glu1182Lys)
c.4309G>A (p.Glu1437Lys)
c.4498G>A (p.Glu1500Lys)
c.4291G>A (p.Glu1431Lys)
c.994G>A (p.Glu332Lys)
c.1039G>A (p.Glu347Lys)
c.4495G>A (p.Glu1499Lys)
c.819G>A
c.1006G>A (p.Glu336Lys)
c.*4215G>A (n.*4215G>A)
c.723G>A
c.745G>A (p.Glu249Lys)
c.748G>A (p.Glu250Lys)
c.5-12589G>A (n.5-12589G>A)
c.-43-2019G>A (n.-43-2019G>A)
c.-98-26350G>A (n.-98-26350G>A)
n.323G>A
n.4568G>A
n.4609G>A
 dbSNP
17g.43076541A>CCA10592673BRCA1c.4428T>G (p.Phe1476Leu)
c.4431T>G (p.Phe1477Leu)
c.4305T>G (p.Phe1435Leu)
c.4425T>G (p.Phe1475Leu)
c.4353T>G (p.Phe1451Leu)
c.1119T>G (p.Phe373Leu)
c.981T>G (p.Phe327Leu)
c.3543T>G (p.Phe1181Leu)
c.4308T>G (p.Phe1436Leu)
c.4497T>G (p.Phe1499Leu)
c.4290T>G (p.Phe1430Leu)
c.993T>G (p.Phe331Leu)
c.1038T>G (p.Phe346Leu)
c.4494T>G (p.Phe1498Leu)
c.818T>G
c.1005T>G (p.Phe335Leu)
c.*4214T>G (n.*4214T>G)
c.722T>G
c.744T>G (p.Phe248Leu)
c.747T>G (p.Phe249Leu)
c.5-12590T>G (n.5-12590T>G)
c.-43-2020T>G (n.-43-2020T>G)
c.-98-26351T>G (n.-98-26351T>G)
n.322T>G
n.4567T>G
n.4608T>G
 gnomAD v4
17g.43076541A>GCA500146809BRCA1c.4428T>C (p.Phe1476=)
c.4431T>C (p.Phe1477=)
c.4305T>C (p.Phe1435=)
c.4425T>C (p.Phe1475=)
c.4353T>C (p.Phe1451=)
c.1119T>C (p.Phe373=)
c.981T>C (p.Phe327=)
c.3543T>C (p.Phe1181=)
c.4308T>C (p.Phe1436=)
c.4497T>C (p.Phe1499=)
c.4290T>C (p.Phe1430=)
c.993T>C (p.Phe331=)
c.1038T>C (p.Phe346=)
c.4494T>C (p.Phe1498=)
c.818T>C
c.1005T>C (p.Phe335=)
c.*4214T>C (n.*4214T>C)
c.722T>C
c.744T>C (p.Phe248=)
c.747T>C (p.Phe249=)
c.5-12590T>C (n.5-12590T>C)
c.-43-2020T>C (n.-43-2020T>C)
c.-98-26351T>C (n.-98-26351T>C)
n.322T>C
n.4567T>C
n.4608T>C
17g.43076541A>TCA10592674BRCA1c.4428T>A (p.Phe1476Leu)
c.4431T>A (p.Phe1477Leu)
c.4305T>A (p.Phe1435Leu)
c.4425T>A (p.Phe1475Leu)
c.4353T>A (p.Phe1451Leu)
c.1119T>A (p.Phe373Leu)
c.981T>A (p.Phe327Leu)
c.3543T>A (p.Phe1181Leu)
c.4308T>A (p.Phe1436Leu)
c.4497T>A (p.Phe1499Leu)
c.4290T>A (p.Phe1430Leu)
c.993T>A (p.Phe331Leu)
c.1038T>A (p.Phe346Leu)
c.4494T>A (p.Phe1498Leu)
c.818T>A
c.1005T>A (p.Phe335Leu)
c.*4214T>A (n.*4214T>A)
c.722T>A
c.744T>A (p.Phe248Leu)
c.747T>A (p.Phe249Leu)
c.5-12590T>A (n.5-12590T>A)
c.-43-2020T>A (n.-43-2020T>A)
c.-98-26351T>A (n.-98-26351T>A)
n.322T>A
n.4567T>A
n.4608T>A
17g.43076543dupCA2695225923BRCA1c.4428dup (p.Glu1477Ter)
c.4431dup (p.Glu1478Ter)
c.4305dup (p.Glu1436Ter)
c.4425dup (p.Glu1476Ter)
c.4353dup (p.Glu1452Ter)
c.1119dup (p.Glu374Ter)
c.981dup (p.Glu328Ter)
c.3543dup (p.Glu1182Ter)
c.4308dup (p.Glu1437Ter)
c.4497dup (p.Glu1500Ter)
c.4290dup (p.Glu1431Ter)
c.993dup (p.Glu332Ter)
c.1038dup (p.Glu347Ter)
c.4494dup (p.Glu1499Ter)
c.818dup
c.1005dup (p.Glu336Ter)
c.*4214dup (n.*4214dup)
c.722dup
c.744dup (p.Glu249Ter)
c.747dup (p.Glu250Ter)
c.5-12590dup (n.5-12590dup)
c.-43-2020dup (n.-43-2020dup)
c.-98-26351dup (n.-98-26351dup)
n.322dup
n.4567dup
n.4608dup
17g.43076542A=CA2260775487BRCA1c.4427T= (p.Phe1476=)
c.4430T= (p.Phe1477=)
c.4304T= (p.Phe1435=)
c.4424T= (p.Phe1475=)
c.4352T= (p.Phe1451=)
c.1118T= (p.Phe373=)
c.980T= (p.Phe327=)
c.3542T= (p.Phe1181=)
c.4307T= (p.Phe1436=)
c.4496T= (p.Phe1499=)
c.4289T= (p.Phe1430=)
c.992T= (p.Phe331=)
c.1037T= (p.Phe346=)
c.4493T= (p.Phe1498=)
c.817T=
c.1004T= (p.Phe335=)
c.*4213T= (n.*4213T=)
c.721T=
c.743T= (p.Phe248=)
c.746T= (p.Phe249=)
c.5-12591T= (n.5-12591T=)
c.-43-2021T= (n.-43-2021T=)
c.-98-26352T= (n.-98-26352T=)
n.321T=
n.4566T=
n.4607T=
17g.43076542A>CCA10592675BRCA1c.4427T>G (p.Phe1476Cys)
c.4430T>G (p.Phe1477Cys)
c.4304T>G (p.Phe1435Cys)
c.4424T>G (p.Phe1475Cys)
c.4352T>G (p.Phe1451Cys)
c.1118T>G (p.Phe373Cys)
c.980T>G (p.Phe327Cys)
c.3542T>G (p.Phe1181Cys)
c.4307T>G (p.Phe1436Cys)
c.4496T>G (p.Phe1499Cys)
c.4289T>G (p.Phe1430Cys)
c.992T>G (p.Phe331Cys)
c.1037T>G (p.Phe346Cys)
c.4493T>G (p.Phe1498Cys)
c.817T>G
c.1004T>G (p.Phe335Cys)
c.*4213T>G (n.*4213T>G)
c.721T>G
c.743T>G (p.Phe248Cys)
c.746T>G (p.Phe249Cys)
c.5-12591T>G (n.5-12591T>G)
c.-43-2021T>G (n.-43-2021T>G)
c.-98-26352T>G (n.-98-26352T>G)
n.321T>G
n.4566T>G
n.4607T>G
17g.43076542A>GCA10580520BRCA1c.4427T>C (p.Phe1476Ser)
c.4430T>C (p.Phe1477Ser)
c.4304T>C (p.Phe1435Ser)
c.4424T>C (p.Phe1475Ser)
c.4352T>C (p.Phe1451Ser)
c.1118T>C (p.Phe373Ser)
c.980T>C (p.Phe327Ser)
c.3542T>C (p.Phe1181Ser)
c.4307T>C (p.Phe1436Ser)
c.4496T>C (p.Phe1499Ser)
c.4289T>C (p.Phe1430Ser)
c.992T>C (p.Phe331Ser)
c.1037T>C (p.Phe346Ser)
c.4493T>C (p.Phe1498Ser)
c.817T>C
c.1004T>C (p.Phe335Ser)
c.*4213T>C (n.*4213T>C)
c.721T>C
c.743T>C (p.Phe248Ser)
c.746T>C (p.Phe249Ser)
c.5-12591T>C (n.5-12591T>C)
c.-43-2021T>C (n.-43-2021T>C)
c.-98-26352T>C (n.-98-26352T>C)
n.321T>C
n.4566T>C
n.4607T>C
 ClinVar dbSNP
17g.43076542A>TCA10592676BRCA1c.4427T>A (p.Phe1476Tyr)
c.4430T>A (p.Phe1477Tyr)
c.4304T>A (p.Phe1435Tyr)
c.4424T>A (p.Phe1475Tyr)
c.4352T>A (p.Phe1451Tyr)
c.1118T>A (p.Phe373Tyr)
c.980T>A (p.Phe327Tyr)
c.3542T>A (p.Phe1181Tyr)
c.4307T>A (p.Phe1436Tyr)
c.4496T>A (p.Phe1499Tyr)
c.4289T>A (p.Phe1430Tyr)
c.992T>A (p.Phe331Tyr)
c.1037T>A (p.Phe346Tyr)
c.4493T>A (p.Phe1498Tyr)
c.817T>A
c.1004T>A (p.Phe335Tyr)
c.*4213T>A (n.*4213T>A)
c.721T>A
c.743T>A (p.Phe248Tyr)
c.746T>A (p.Phe249Tyr)
c.5-12591T>A (n.5-12591T>A)
c.-43-2021T>A (n.-43-2021T>A)
c.-98-26352T>A (n.-98-26352T>A)
n.321T>A
n.4566T>A
n.4607T>A
 dbSNP
17g.43076543A=CA2260775488BRCA1c.4426T= (p.Phe1476=)
c.4429T= (p.Phe1477=)
c.4303T= (p.Phe1435=)
c.4423T= (p.Phe1475=)
c.4351T= (p.Phe1451=)
c.1117T= (p.Phe373=)
c.979T= (p.Phe327=)
c.3541T= (p.Phe1181=)
c.4306T= (p.Phe1436=)
c.4495T= (p.Phe1499=)
c.4288T= (p.Phe1430=)
c.991T= (p.Phe331=)
c.1036T= (p.Phe346=)
c.4492T= (p.Phe1498=)
c.816T=
c.1003T= (p.Phe335=)
c.*4212T= (n.*4212T=)
c.720T=
c.742T= (p.Phe248=)
c.745T= (p.Phe249=)
c.5-12592T= (n.5-12592T=)
c.-43-2022T= (n.-43-2022T=)
c.-98-26353T= (n.-98-26353T=)
n.320T=
n.4565T=
n.4606T=
17g.43076543A>CCA10592677BRCA1c.4426T>G (p.Phe1476Val)
c.4429T>G (p.Phe1477Val)
c.4303T>G (p.Phe1435Val)
c.4423T>G (p.Phe1475Val)
c.4351T>G (p.Phe1451Val)
c.1117T>G (p.Phe373Val)
c.979T>G (p.Phe327Val)
c.3541T>G (p.Phe1181Val)
c.4306T>G (p.Phe1436Val)
c.4495T>G (p.Phe1499Val)
c.4288T>G (p.Phe1430Val)
c.991T>G (p.Phe331Val)
c.1036T>G (p.Phe346Val)
c.4492T>G (p.Phe1498Val)
c.816T>G
c.1003T>G (p.Phe335Val)
c.*4212T>G (n.*4212T>G)
c.720T>G
c.742T>G (p.Phe248Val)
c.745T>G (p.Phe249Val)
c.5-12592T>G (n.5-12592T>G)
c.-43-2022T>G (n.-43-2022T>G)
c.-98-26353T>G (n.-98-26353T>G)
n.320T>G
n.4565T>G
n.4606T>G
 ClinVar dbSNP
17g.43076543A>GCA10592678BRCA1c.4426T>C (p.Phe1476Leu)
c.4429T>C (p.Phe1477Leu)
c.4303T>C (p.Phe1435Leu)
c.4423T>C (p.Phe1475Leu)
c.4351T>C (p.Phe1451Leu)
c.1117T>C (p.Phe373Leu)
c.979T>C (p.Phe327Leu)
c.3541T>C (p.Phe1181Leu)
c.4306T>C (p.Phe1436Leu)
c.4495T>C (p.Phe1499Leu)
c.4288T>C (p.Phe1430Leu)
c.991T>C (p.Phe331Leu)
c.1036T>C (p.Phe346Leu)
c.4492T>C (p.Phe1498Leu)
c.816T>C
c.1003T>C (p.Phe335Leu)
c.*4212T>C (n.*4212T>C)
c.720T>C
c.742T>C (p.Phe248Leu)
c.745T>C (p.Phe249Leu)
c.5-12592T>C (n.5-12592T>C)
c.-43-2022T>C (n.-43-2022T>C)
c.-98-26353T>C (n.-98-26353T>C)
n.320T>C
n.4565T>C
n.4606T>C
17g.43076543A>TCA10592679BRCA1c.4426T>A (p.Phe1476Ile)
c.4429T>A (p.Phe1477Ile)
c.4303T>A (p.Phe1435Ile)
c.4423T>A (p.Phe1475Ile)
c.4351T>A (p.Phe1451Ile)
c.1117T>A (p.Phe373Ile)
c.979T>A (p.Phe327Ile)
c.3541T>A (p.Phe1181Ile)
c.4306T>A (p.Phe1436Ile)
c.4495T>A (p.Phe1499Ile)
c.4288T>A (p.Phe1430Ile)
c.991T>A (p.Phe331Ile)
c.1036T>A (p.Phe346Ile)
c.4492T>A (p.Phe1498Ile)
c.816T>A
c.1003T>A (p.Phe335Ile)
c.*4212T>A (n.*4212T>A)
c.720T>A
c.742T>A (p.Phe248Ile)
c.745T>A (p.Phe249Ile)
c.5-12592T>A (n.5-12592T>A)
c.-43-2022T>A (n.-43-2022T>A)
c.-98-26353T>A (n.-98-26353T>A)
n.320T>A
n.4565T>A
n.4606T>A
 dbSNP
17g.43076544C>ACA10592680BRCA1c.4425G>T (p.Lys1475Asn)
c.4428G>T (p.Lys1476Asn)
c.4302G>T (p.Lys1434Asn)
c.4422G>T (p.Lys1474Asn)
c.4350G>T (p.Lys1450Asn)
c.1116G>T (p.Lys372Asn)
c.978G>T (p.Lys326Asn)
c.3540G>T (p.Lys1180Asn)
c.4305G>T (p.Lys1435Asn)
c.4494G>T (p.Lys1498Asn)
c.4287G>T (p.Lys1429Asn)
c.990G>T (p.Lys330Asn)
c.1035G>T (p.Lys345Asn)
c.4491G>T (p.Lys1497Asn)
c.815G>T
c.1002G>T (p.Lys334Asn)
c.*4211G>T (n.*4211G>T)
c.719G>T
c.741G>T (p.Lys247Asn)
c.744G>T (p.Lys248Asn)
c.5-12593G>T (n.5-12593G>T)
c.-43-2023G>T (n.-43-2023G>T)
c.-98-26354G>T (n.-98-26354G>T)
n.319G>T
n.4564G>T
n.4605G>T
17g.43076544C=CA2260775489BRCA1c.4425G= (p.Lys1475=)
c.4428G= (p.Lys1476=)
c.4302G= (p.Lys1434=)
c.4422G= (p.Lys1474=)
c.4350G= (p.Lys1450=)
c.1116G= (p.Lys372=)
c.978G= (p.Lys326=)
c.3540G= (p.Lys1180=)
c.4305G= (p.Lys1435=)
c.4494G= (p.Lys1498=)
c.4287G= (p.Lys1429=)
c.990G= (p.Lys330=)
c.1035G= (p.Lys345=)
c.4491G= (p.Lys1497=)
c.815G=
c.1002G= (p.Lys334=)
c.*4211G= (n.*4211G=)
c.719G=
c.741G= (p.Lys247=)
c.744G= (p.Lys248=)
c.5-12593G= (n.5-12593G=)
c.-43-2023G= (n.-43-2023G=)
c.-98-26354G= (n.-98-26354G=)
n.319G=
n.4564G=
n.4605G=
17g.43076544C>GCA10592681BRCA1c.4425G>C (p.Lys1475Asn)
c.4428G>C (p.Lys1476Asn)
c.4302G>C (p.Lys1434Asn)
c.4422G>C (p.Lys1474Asn)
c.4350G>C (p.Lys1450Asn)
c.1116G>C (p.Lys372Asn)
c.978G>C (p.Lys326Asn)
c.3540G>C (p.Lys1180Asn)
c.4305G>C (p.Lys1435Asn)
c.4494G>C (p.Lys1498Asn)
c.4287G>C (p.Lys1429Asn)
c.990G>C (p.Lys330Asn)
c.1035G>C (p.Lys345Asn)
c.4491G>C (p.Lys1497Asn)
c.815G>C
c.1002G>C (p.Lys334Asn)
c.*4211G>C (n.*4211G>C)
c.719G>C
c.741G>C (p.Lys247Asn)
c.744G>C (p.Lys248Asn)
c.5-12593G>C (n.5-12593G>C)
c.-43-2023G>C (n.-43-2023G>C)
c.-98-26354G>C (n.-98-26354G>C)
n.319G>C
n.4564G>C
n.4605G>C
 dbSNP
17g.43076544C>TCA16607608BRCA1c.4425G>A (p.Lys1475=)
c.4428G>A (p.Lys1476=)
c.4302G>A (p.Lys1434=)
c.4422G>A (p.Lys1474=)
c.4350G>A (p.Lys1450=)
c.1116G>A (p.Lys372=)
c.978G>A (p.Lys326=)
c.3540G>A (p.Lys1180=)
c.4305G>A (p.Lys1435=)
c.4494G>A (p.Lys1498=)
c.4287G>A (p.Lys1429=)
c.990G>A (p.Lys330=)
c.1035G>A (p.Lys345=)
c.4491G>A (p.Lys1497=)
c.815G>A
c.1002G>A (p.Lys334=)
c.*4211G>A (n.*4211G>A)
c.719G>A
c.741G>A (p.Lys247=)
c.744G>A (p.Lys248=)
c.5-12593G>A (n.5-12593G>A)
c.-43-2023G>A (n.-43-2023G>A)
c.-98-26354G>A (n.-98-26354G>A)
n.319G>A
n.4564G>A
n.4605G>A
 ClinVar dbSNP gnomAD v4
17g.43076545T>ACA10592682BRCA1c.4424A>T (p.Lys1475Met)
c.4427A>T (p.Lys1476Met)
c.4301A>T (p.Lys1434Met)
c.4421A>T (p.Lys1474Met)
c.4349A>T (p.Lys1450Met)
c.1115A>T (p.Lys372Met)
c.977A>T (p.Lys326Met)
c.3539A>T (p.Lys1180Met)
c.4304A>T (p.Lys1435Met)
c.4493A>T (p.Lys1498Met)
c.4286A>T (p.Lys1429Met)
c.989A>T (p.Lys330Met)
c.1034A>T (p.Lys345Met)
c.4490A>T (p.Lys1497Met)
c.814A>T
c.1001A>T (p.Lys334Met)
c.*4210A>T (n.*4210A>T)
c.718A>T
c.740A>T (p.Lys247Met)
c.743A>T (p.Lys248Met)
c.5-12594A>T (n.5-12594A>T)
c.-43-2024A>T (n.-43-2024A>T)
c.-98-26355A>T (n.-98-26355A>T)
n.318A>T
n.4563A>T
n.4604A>T
 dbSNP
17g.43076545T>CCA10592683BRCA1c.4424A>G (p.Lys1475Arg)
c.4427A>G (p.Lys1476Arg)
c.4301A>G (p.Lys1434Arg)
c.4421A>G (p.Lys1474Arg)
c.4349A>G (p.Lys1450Arg)
c.1115A>G (p.Lys372Arg)
c.977A>G (p.Lys326Arg)
c.3539A>G (p.Lys1180Arg)
c.4304A>G (p.Lys1435Arg)
c.4493A>G (p.Lys1498Arg)
c.4286A>G (p.Lys1429Arg)
c.989A>G (p.Lys330Arg)
c.1034A>G (p.Lys345Arg)
c.4490A>G (p.Lys1497Arg)
c.814A>G
c.1001A>G (p.Lys334Arg)
c.*4210A>G (n.*4210A>G)
c.718A>G
c.740A>G (p.Lys247Arg)
c.743A>G (p.Lys248Arg)
c.5-12594A>G (n.5-12594A>G)
c.-43-2024A>G (n.-43-2024A>G)
c.-98-26355A>G (n.-98-26355A>G)
n.318A>G
n.4563A>G
n.4604A>G
 ClinVar dbSNP COSMIC COSMIC
17g.43076545T>GCA052280BRCA1c.4424A>C (p.Lys1475Thr)
c.4427A>C (p.Lys1476Thr)
c.4301A>C (p.Lys1434Thr)
c.4421A>C (p.Lys1474Thr)
c.4349A>C (p.Lys1450Thr)
c.1115A>C (p.Lys372Thr)
c.977A>C (p.Lys326Thr)
c.3539A>C (p.Lys1180Thr)
c.4304A>C (p.Lys1435Thr)
c.4493A>C (p.Lys1498Thr)
c.4286A>C (p.Lys1429Thr)
c.989A>C (p.Lys330Thr)
c.1034A>C (p.Lys345Thr)
c.4490A>C (p.Lys1497Thr)
c.814A>C
c.1001A>C (p.Lys334Thr)
c.*4210A>C (n.*4210A>C)
c.718A>C
c.740A>C (p.Lys247Thr)
c.743A>C (p.Lys248Thr)
c.5-12594A>C (n.5-12594A>C)
c.-43-2024A>C (n.-43-2024A>C)
c.-98-26355A>C (n.-98-26355A>C)
n.318A>C
n.4563A>C
n.4604A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43076545T=CA2260775490BRCA1c.4424A= (p.Lys1475=)
c.4427A= (p.Lys1476=)
c.4301A= (p.Lys1434=)
c.4421A= (p.Lys1474=)
c.4349A= (p.Lys1450=)
c.1115A= (p.Lys372=)
c.977A= (p.Lys326=)
c.3539A= (p.Lys1180=)
c.4304A= (p.Lys1435=)
c.4493A= (p.Lys1498=)
c.4286A= (p.Lys1429=)
c.989A= (p.Lys330=)
c.1034A= (p.Lys345=)
c.4490A= (p.Lys1497=)
c.814A=
c.1001A= (p.Lys334=)
c.*4210A= (n.*4210A=)
c.718A=
c.740A= (p.Lys247=)
c.743A= (p.Lys248=)
c.5-12594A= (n.5-12594A=)
c.-43-2024A= (n.-43-2024A=)
c.-98-26355A= (n.-98-26355A=)
n.318A=
n.4563A=
n.4604A=
17g.43076546dupCA002851BRCA1c.4424dup (p.Phe1476ValfsTer2)
c.4427dup (p.Phe1477ValfsTer2)
c.4301dup (p.Phe1435ValfsTer2)
c.4421dup (p.Phe1475ValfsTer2)
c.4349dup (p.Phe1451ValfsTer2)
c.1115dup (p.Phe373ValfsTer2)
c.977dup (p.Phe327ValfsTer2)
c.3539dup (p.Phe1181ValfsTer2)
c.4304dup (p.Phe1436ValfsTer2)
c.4493dup (p.Phe1499ValfsTer2)
c.4286dup (p.Phe1430ValfsTer2)
c.989dup (p.Phe331ValfsTer2)
c.1034dup (p.Phe346ValfsTer2)
c.4490dup (p.Phe1498ValfsTer2)
c.814dup
c.1001dup (p.Phe335ValfsTer2)
c.*4210dup (n.*4210dup)
c.718dup
c.740dup (p.Phe248ValfsTer2)
c.743dup (p.Phe249ValfsTer2)
c.5-12594dup (n.5-12594dup)
c.-43-2024dup (n.-43-2024dup)
c.-98-26355dup (n.-98-26355dup)
n.318dup
n.4563dup
n.4604dup
 ClinVar dbSNP
17g.43076546T>ACA10592684BRCA1c.4423A>T (p.Lys1475Ter)
c.4426A>T (p.Lys1476Ter)
c.4300A>T (p.Lys1434Ter)
c.4420A>T (p.Lys1474Ter)
c.4348A>T (p.Lys1450Ter)
c.1114A>T (p.Lys372Ter)
c.976A>T (p.Lys326Ter)
c.3538A>T (p.Lys1180Ter)
c.4303A>T (p.Lys1435Ter)
c.4492A>T (p.Lys1498Ter)
c.4285A>T (p.Lys1429Ter)
c.988A>T (p.Lys330Ter)
c.1033A>T (p.Lys345Ter)
c.4489A>T (p.Lys1497Ter)
c.813A>T
c.1000A>T (p.Lys334Ter)
c.*4209A>T (n.*4209A>T)
c.717A>T
c.739A>T (p.Lys247Ter)
c.742A>T (p.Lys248Ter)
c.5-12595A>T (n.5-12595A>T)
c.-43-2025A>T (n.-43-2025A>T)
c.-98-26356A>T (n.-98-26356A>T)
n.317A>T
n.4562A>T
n.4603A>T
17g.43076546T>CCA10592685BRCA1c.4423A>G (p.Lys1475Glu)
c.4426A>G (p.Lys1476Glu)
c.4300A>G (p.Lys1434Glu)
c.4420A>G (p.Lys1474Glu)
c.4348A>G (p.Lys1450Glu)
c.1114A>G (p.Lys372Glu)
c.976A>G (p.Lys326Glu)
c.3538A>G (p.Lys1180Glu)
c.4303A>G (p.Lys1435Glu)
c.4492A>G (p.Lys1498Glu)
c.4285A>G (p.Lys1429Glu)
c.988A>G (p.Lys330Glu)
c.1033A>G (p.Lys345Glu)
c.4489A>G (p.Lys1497Glu)
c.813A>G
c.1000A>G (p.Lys334Glu)
c.*4209A>G (n.*4209A>G)
c.717A>G
c.739A>G (p.Lys247Glu)
c.742A>G (p.Lys248Glu)
c.5-12595A>G (n.5-12595A>G)
c.-43-2025A>G (n.-43-2025A>G)
c.-98-26356A>G (n.-98-26356A>G)
n.317A>G
n.4562A>G
n.4603A>G
 ClinVar dbSNP
17g.43076546T>GCA10592686BRCA1c.4423A>C (p.Lys1475Gln)
c.4426A>C (p.Lys1476Gln)
c.4300A>C (p.Lys1434Gln)
c.4420A>C (p.Lys1474Gln)
c.4348A>C (p.Lys1450Gln)
c.1114A>C (p.Lys372Gln)
c.976A>C (p.Lys326Gln)
c.3538A>C (p.Lys1180Gln)
c.4303A>C (p.Lys1435Gln)
c.4492A>C (p.Lys1498Gln)
c.4285A>C (p.Lys1429Gln)
c.988A>C (p.Lys330Gln)
c.1033A>C (p.Lys345Gln)
c.4489A>C (p.Lys1497Gln)
c.813A>C
c.1000A>C (p.Lys334Gln)
c.*4209A>C (n.*4209A>C)
c.717A>C
c.739A>C (p.Lys247Gln)
c.742A>C (p.Lys248Gln)
c.5-12595A>C (n.5-12595A>C)
c.-43-2025A>C (n.-43-2025A>C)
c.-98-26356A>C (n.-98-26356A>C)
n.317A>C
n.4562A>C
n.4603A>C
17g.43076546T=CA2260775491BRCA1c.4423A= (p.Lys1475=)
c.4426A= (p.Lys1476=)
c.4300A= (p.Lys1434=)
c.4420A= (p.Lys1474=)
c.4348A= (p.Lys1450=)
c.1114A= (p.Lys372=)
c.976A= (p.Lys326=)
c.3538A= (p.Lys1180=)
c.4303A= (p.Lys1435=)
c.4492A= (p.Lys1498=)
c.4285A= (p.Lys1429=)
c.988A= (p.Lys330=)
c.1033A= (p.Lys345=)
c.4489A= (p.Lys1497=)
c.813A=
c.1000A= (p.Lys334=)
c.*4209A= (n.*4209A=)
c.717A=
c.739A= (p.Lys247=)
c.742A= (p.Lys248=)
c.5-12595A= (n.5-12595A=)
c.-43-2025A= (n.-43-2025A=)
c.-98-26356A= (n.-98-26356A=)
n.317A=
n.4562A=
n.4603A=
17g.43076547G>ACA500146810BRCA1c.4422C>T (p.Asp1474=)
c.4425C>T (p.Asp1475=)
c.4299C>T (p.Asp1433=)
c.4419C>T (p.Asp1473=)
c.4347C>T (p.Asp1449=)
c.1113C>T (p.Asp371=)
c.975C>T (p.Asp325=)
c.3537C>T (p.Asp1179=)
c.4302C>T (p.Asp1434=)
c.4491C>T (p.Asp1497=)
c.4284C>T (p.Asp1428=)
c.987C>T (p.Asp329=)
c.1032C>T (p.Asp344=)
c.4488C>T (p.Asp1496=)
c.812C>T
c.999C>T (p.Asp333=)
c.*4208C>T (n.*4208C>T)
c.716C>T
c.738C>T (p.Asp246=)
c.741C>T (p.Asp247=)
c.5-12596C>T (n.5-12596C>T)
c.-43-2026C>T (n.-43-2026C>T)
c.-98-26357C>T (n.-98-26357C>T)
n.316C>T
n.4561C>T
n.4602C>T
 ClinVar dbSNP
17g.43076547G>CCA10592687BRCA1c.4422C>G (p.Asp1474Glu)
c.4425C>G (p.Asp1475Glu)
c.4299C>G (p.Asp1433Glu)
c.4419C>G (p.Asp1473Glu)
c.4347C>G (p.Asp1449Glu)
c.1113C>G (p.Asp371Glu)
c.975C>G (p.Asp325Glu)
c.3537C>G (p.Asp1179Glu)
c.4302C>G (p.Asp1434Glu)
c.4491C>G (p.Asp1497Glu)
c.4284C>G (p.Asp1428Glu)
c.987C>G (p.Asp329Glu)
c.1032C>G (p.Asp344Glu)
c.4488C>G (p.Asp1496Glu)
c.812C>G
c.999C>G (p.Asp333Glu)
c.*4208C>G (n.*4208C>G)
c.716C>G
c.738C>G (p.Asp246Glu)
c.741C>G (p.Asp247Glu)
c.5-12596C>G (n.5-12596C>G)
c.-43-2026C>G (n.-43-2026C>G)
c.-98-26357C>G (n.-98-26357C>G)
n.316C>G
n.4561C>G
n.4602C>G
 ClinVar dbSNP
17g.43076547G>TCA10592688BRCA1c.4422C>A (p.Asp1474Glu)
c.4425C>A (p.Asp1475Glu)
c.4299C>A (p.Asp1433Glu)
c.4419C>A (p.Asp1473Glu)
c.4347C>A (p.Asp1449Glu)
c.1113C>A (p.Asp371Glu)
c.975C>A (p.Asp325Glu)
c.3537C>A (p.Asp1179Glu)
c.4302C>A (p.Asp1434Glu)
c.4491C>A (p.Asp1497Glu)
c.4284C>A (p.Asp1428Glu)
c.987C>A (p.Asp329Glu)
c.1032C>A (p.Asp344Glu)
c.4488C>A (p.Asp1496Glu)
c.812C>A
c.999C>A (p.Asp333Glu)
c.*4208C>A (n.*4208C>A)
c.716C>A
c.738C>A (p.Asp246Glu)
c.741C>A (p.Asp247Glu)
c.5-12596C>A (n.5-12596C>A)
c.-43-2026C>A (n.-43-2026C>A)
c.-98-26357C>A (n.-98-26357C>A)
n.316C>A
n.4561C>A
n.4602C>A
17g.43076548T>ACA10592689BRCA1c.4421A>T (p.Asp1474Val)
c.4424A>T (p.Asp1475Val)
c.4298A>T (p.Asp1433Val)
c.4418A>T (p.Asp1473Val)
c.4346A>T (p.Asp1449Val)
c.1112A>T (p.Asp371Val)
c.974A>T (p.Asp325Val)
c.3536A>T (p.Asp1179Val)
c.4301A>T (p.Asp1434Val)
c.4490A>T (p.Asp1497Val)
c.4283A>T (p.Asp1428Val)
c.986A>T (p.Asp329Val)
c.1031A>T (p.Asp344Val)
c.4487A>T (p.Asp1496Val)
c.811A>T
c.998A>T (p.Asp333Val)
c.*4207A>T (n.*4207A>T)
c.715A>T
c.737A>T (p.Asp246Val)
c.740A>T (p.Asp247Val)
c.5-12597A>T (n.5-12597A>T)
c.-43-2027A>T (n.-43-2027A>T)
c.-98-26358A>T (n.-98-26358A>T)
n.315A>T
n.4560A>T
n.4601A>T
 dbSNP
17g.43076548T>CCA10592690BRCA1c.4421A>G (p.Asp1474Gly)
c.4424A>G (p.Asp1475Gly)
c.4298A>G (p.Asp1433Gly)
c.4418A>G (p.Asp1473Gly)
c.4346A>G (p.Asp1449Gly)
c.1112A>G (p.Asp371Gly)
c.974A>G (p.Asp325Gly)
c.3536A>G (p.Asp1179Gly)
c.4301A>G (p.Asp1434Gly)
c.4490A>G (p.Asp1497Gly)
c.4283A>G (p.Asp1428Gly)
c.986A>G (p.Asp329Gly)
c.1031A>G (p.Asp344Gly)
c.4487A>G (p.Asp1496Gly)
c.811A>G
c.998A>G (p.Asp333Gly)
c.*4207A>G (n.*4207A>G)
c.715A>G
c.737A>G (p.Asp246Gly)
c.740A>G (p.Asp247Gly)
c.5-12597A>G (n.5-12597A>G)
c.-43-2027A>G (n.-43-2027A>G)
c.-98-26358A>G (n.-98-26358A>G)
n.315A>G
n.4560A>G
n.4601A>G
 dbSNP
17g.43076548T>GCA10592691BRCA1c.4421A>C (p.Asp1474Ala)
c.4424A>C (p.Asp1475Ala)
c.4298A>C (p.Asp1433Ala)
c.4418A>C (p.Asp1473Ala)
c.4346A>C (p.Asp1449Ala)
c.1112A>C (p.Asp371Ala)
c.974A>C (p.Asp325Ala)
c.3536A>C (p.Asp1179Ala)
c.4301A>C (p.Asp1434Ala)
c.4490A>C (p.Asp1497Ala)
c.4283A>C (p.Asp1428Ala)
c.986A>C (p.Asp329Ala)
c.1031A>C (p.Asp344Ala)
c.4487A>C (p.Asp1496Ala)
c.811A>C
c.998A>C (p.Asp333Ala)
c.*4207A>C (n.*4207A>C)
c.715A>C
c.737A>C (p.Asp246Ala)
c.740A>C (p.Asp247Ala)
c.5-12597A>C (n.5-12597A>C)
c.-43-2027A>C (n.-43-2027A>C)
c.-98-26358A>C (n.-98-26358A>C)
n.315A>C
n.4560A>C
n.4601A>C
 dbSNP
17g.43076549C>ACA10580521BRCA1c.4420G>T (p.Asp1474Tyr)
c.4423G>T (p.Asp1475Tyr)
c.4297G>T (p.Asp1433Tyr)
c.4417G>T (p.Asp1473Tyr)
c.4345G>T (p.Asp1449Tyr)
c.1111G>T (p.Asp371Tyr)
c.973G>T (p.Asp325Tyr)
c.3535G>T (p.Asp1179Tyr)
c.4300G>T (p.Asp1434Tyr)
c.4489G>T (p.Asp1497Tyr)
c.4282G>T (p.Asp1428Tyr)
c.985G>T (p.Asp329Tyr)
c.1030G>T (p.Asp344Tyr)
c.4486G>T (p.Asp1496Tyr)
c.810G>T
c.997G>T (p.Asp333Tyr)
c.*4206G>T (n.*4206G>T)
c.714G>T
c.736G>T (p.Asp246Tyr)
c.739G>T (p.Asp247Tyr)
c.5-12598G>T (n.5-12598G>T)
c.-43-2028G>T (n.-43-2028G>T)
c.-98-26359G>T (n.-98-26359G>T)
n.314G>T
n.4559G>T
n.4600G>T
 ClinVar dbSNP
17g.43076549C=CA2260775492BRCA1c.4420G= (p.Asp1474=)
c.4423G= (p.Asp1475=)
c.4297G= (p.Asp1433=)
c.4417G= (p.Asp1473=)
c.4345G= (p.Asp1449=)
c.1111G= (p.Asp371=)
c.973G= (p.Asp325=)
c.3535G= (p.Asp1179=)
c.4300G= (p.Asp1434=)
c.4489G= (p.Asp1497=)
c.4282G= (p.Asp1428=)
c.985G= (p.Asp329=)
c.1030G= (p.Asp344=)
c.4486G= (p.Asp1496=)
c.810G=
c.997G= (p.Asp333=)
c.*4206G= (n.*4206G=)
c.714G=
c.736G= (p.Asp246=)
c.739G= (p.Asp247=)
c.5-12598G= (n.5-12598G=)
c.-43-2028G= (n.-43-2028G=)
c.-98-26359G= (n.-98-26359G=)
n.314G=
n.4559G=
n.4600G=
17g.43076549C>GCA10592692BRCA1c.4420G>C (p.Asp1474His)
c.4423G>C (p.Asp1475His)
c.4297G>C (p.Asp1433His)
c.4417G>C (p.Asp1473His)
c.4345G>C (p.Asp1449His)
c.1111G>C (p.Asp371His)
c.973G>C (p.Asp325His)
c.3535G>C (p.Asp1179His)
c.4300G>C (p.Asp1434His)
c.4489G>C (p.Asp1497His)
c.4282G>C (p.Asp1428His)
c.985G>C (p.Asp329His)
c.1030G>C (p.Asp344His)
c.4486G>C (p.Asp1496His)
c.810G>C
c.997G>C (p.Asp333His)
c.*4206G>C (n.*4206G>C)
c.714G>C
c.736G>C (p.Asp246His)
c.739G>C (p.Asp247His)
c.5-12598G>C (n.5-12598G>C)
c.-43-2028G>C (n.-43-2028G>C)
c.-98-26359G>C (n.-98-26359G>C)
n.314G>C
n.4559G>C
n.4600G>C
 dbSNP
17g.43076549C>TCA10592693BRCA1c.4420G>A (p.Asp1474Asn)
c.4423G>A (p.Asp1475Asn)
c.4297G>A (p.Asp1433Asn)
c.4417G>A (p.Asp1473Asn)
c.4345G>A (p.Asp1449Asn)
c.1111G>A (p.Asp371Asn)
c.973G>A (p.Asp325Asn)
c.3535G>A (p.Asp1179Asn)
c.4300G>A (p.Asp1434Asn)
c.4489G>A (p.Asp1497Asn)
c.4282G>A (p.Asp1428Asn)
c.985G>A (p.Asp329Asn)
c.1030G>A (p.Asp344Asn)
c.4486G>A (p.Asp1496Asn)
c.810G>A
c.997G>A (p.Asp333Asn)
c.*4206G>A (n.*4206G>A)
c.714G>A
c.736G>A (p.Asp246Asn)
c.739G>A (p.Asp247Asn)
c.5-12598G>A (n.5-12598G>A)
c.-43-2028G>A (n.-43-2028G>A)
c.-98-26359G>A (n.-98-26359G>A)
n.314G>A
n.4559G>A
n.4600G>A
 dbSNP
17g.43076550A=CA2260775493BRCA1c.4419T= (p.Ala1473=)
c.4422T= (p.Ala1474=)
c.4296T= (p.Ala1432=)
c.4416T= (p.Ala1472=)
c.4344T= (p.Ala1448=)
c.1110T= (p.Ala370=)
c.972T= (p.Ala324=)
c.3534T= (p.Ala1178=)
c.4299T= (p.Ala1433=)
c.4488T= (p.Ala1496=)
c.4281T= (p.Ala1427=)
c.984T= (p.Ala328=)
c.1029T= (p.Ala343=)
c.4485T= (p.Ala1495=)
c.809T=
c.996T= (p.Ala332=)
c.*4205T= (n.*4205T=)
c.713T=
c.735T= (p.Ala245=)
c.738T= (p.Ala246=)
c.5-12599T= (n.5-12599T=)
c.-43-2029T= (n.-43-2029T=)
c.-98-26360T= (n.-98-26360T=)
n.313T=
n.4558T=
n.4599T=
17g.43076550A>CCA500146811BRCA1c.4419T>G (p.Ala1473=)
c.4422T>G (p.Ala1474=)
c.4296T>G (p.Ala1432=)
c.4416T>G (p.Ala1472=)
c.4344T>G (p.Ala1448=)
c.1110T>G (p.Ala370=)
c.972T>G (p.Ala324=)
c.3534T>G (p.Ala1178=)
c.4299T>G (p.Ala1433=)
c.4488T>G (p.Ala1496=)
c.4281T>G (p.Ala1427=)
c.984T>G (p.Ala328=)
c.1029T>G (p.Ala343=)
c.4485T>G (p.Ala1495=)
c.809T>G
c.996T>G (p.Ala332=)
c.*4205T>G (n.*4205T>G)
c.713T>G
c.735T>G (p.Ala245=)
c.738T>G (p.Ala246=)
c.5-12599T>G (n.5-12599T>G)
c.-43-2029T>G (n.-43-2029T>G)
c.-98-26360T>G (n.-98-26360T>G)
n.313T>G
n.4558T>G
n.4599T>G
 ClinVar
17g.43076550A>GCA002848BRCA1c.4419T>C (p.Ala1473=)
c.4422T>C (p.Ala1474=)
c.4296T>C (p.Ala1432=)
c.4416T>C (p.Ala1472=)
c.4344T>C (p.Ala1448=)
c.1110T>C (p.Ala370=)
c.972T>C (p.Ala324=)
c.3534T>C (p.Ala1178=)
c.4299T>C (p.Ala1433=)
c.4488T>C (p.Ala1496=)
c.4281T>C (p.Ala1427=)
c.984T>C (p.Ala328=)
c.1029T>C (p.Ala343=)
c.4485T>C (p.Ala1495=)
c.809T>C
c.996T>C (p.Ala332=)
c.*4205T>C (n.*4205T>C)
c.713T>C
c.735T>C (p.Ala245=)
c.738T>C (p.Ala246=)
c.5-12599T>C (n.5-12599T>C)
c.-43-2029T>C (n.-43-2029T>C)
c.-98-26360T>C (n.-98-26360T>C)
n.313T>C
n.4558T>C
n.4599T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43076550A>TCA500146812BRCA1c.4419T>A (p.Ala1473=)
c.4422T>A (p.Ala1474=)
c.4296T>A (p.Ala1432=)
c.4416T>A (p.Ala1472=)
c.4344T>A (p.Ala1448=)
c.1110T>A (p.Ala370=)
c.972T>A (p.Ala324=)
c.3534T>A (p.Ala1178=)
c.4299T>A (p.Ala1433=)
c.4488T>A (p.Ala1496=)
c.4281T>A (p.Ala1427=)
c.984T>A (p.Ala328=)
c.1029T>A (p.Ala343=)
c.4485T>A (p.Ala1495=)
c.809T>A
c.996T>A (p.Ala332=)
c.*4205T>A (n.*4205T>A)
c.713T>A
c.735T>A (p.Ala245=)
c.738T>A (p.Ala246=)
c.5-12599T>A (n.5-12599T>A)
c.-43-2029T>A (n.-43-2029T>A)
c.-98-26360T>A (n.-98-26360T>A)
n.313T>A
n.4558T>A
n.4599T>A
 ClinVar dbSNP
17g.43076552_43076558delCA2638063554BRCA1c.4413_4419del (p.Ser1472ThrfsTer?)
c.4416_4422del (p.Ser1473ThrfsTer?)
c.4290_4296del (p.Ser1431ThrfsTer?)
c.4410_4416del (p.Ser1471ThrfsTer?)
c.4338_4344del (p.Ser1447ThrfsTer?)
c.1104_1110del (p.Ser369ThrfsTer?)
c.966_972del (p.Ser323ThrfsTer?)
c.3528_3534del (p.Ser1177ThrfsTer?)
c.4293_4299del (p.Ser1432ThrfsTer?)
c.4482_4488del (p.Ser1495ThrfsTer?)
c.4275_4281del (p.Ser1426ThrfsTer?)
c.978_984del (p.Ser327ThrfsTer?)
c.1023_1029del (p.Ser342ThrfsTer?)
c.4479_4485del (p.Ser1494ThrfsTer?)
c.803_809del
c.990_996del (p.Ser331ThrfsTer?)
c.*4199_*4205del (n.*4199_*4205del)
c.707_713del
c.729_735del (p.Ser244ThrfsTer?)
c.732_738del (p.Ser245ThrfsTer?)
c.5-12605_5-12599del (n.5-12605_5-12599del)
c.-43-2035_-43-2029del (n.-43-2035_-43-2029del)
c.-98-26366_-98-26360del (n.-98-26366_-98-26360del)
n.307_313del
n.4552_4558del
n.4593_4599del
 gnomAD v4
17g.43076551G>ACA10592694BRCA1c.4418C>T (p.Ala1473Val)
c.4421C>T (p.Ala1474Val)
c.4295C>T (p.Ala1432Val)
c.4415C>T (p.Ala1472Val)
c.4343C>T (p.Ala1448Val)
c.1109C>T (p.Ala370Val)
c.971C>T (p.Ala324Val)
c.3533C>T (p.Ala1178Val)
c.4298C>T (p.Ala1433Val)
c.4487C>T (p.Ala1496Val)
c.4280C>T (p.Ala1427Val)
c.983C>T (p.Ala328Val)
c.1028C>T (p.Ala343Val)
c.4484C>T (p.Ala1495Val)
c.808C>T
c.995C>T (p.Ala332Val)
c.*4204C>T (n.*4204C>T)
c.712C>T
c.734C>T (p.Ala245Val)
c.737C>T (p.Ala246Val)
c.5-12600C>T (n.5-12600C>T)
c.-43-2030C>T (n.-43-2030C>T)
c.-98-26361C>T (n.-98-26361C>T)
n.312C>T
n.4557C>T
n.4598C>T
 dbSNP gnomAD v4
17g.43076551G>CCA10592695BRCA1c.4418C>G (p.Ala1473Gly)
c.4421C>G (p.Ala1474Gly)
c.4295C>G (p.Ala1432Gly)
c.4415C>G (p.Ala1472Gly)
c.4343C>G (p.Ala1448Gly)
c.1109C>G (p.Ala370Gly)
c.971C>G (p.Ala324Gly)
c.3533C>G (p.Ala1178Gly)
c.4298C>G (p.Ala1433Gly)
c.4487C>G (p.Ala1496Gly)
c.4280C>G (p.Ala1427Gly)
c.983C>G (p.Ala328Gly)
c.1028C>G (p.Ala343Gly)
c.4484C>G (p.Ala1495Gly)
c.808C>G
c.995C>G (p.Ala332Gly)
c.*4204C>G (n.*4204C>G)
c.712C>G
c.734C>G (p.Ala245Gly)
c.737C>G (p.Ala246Gly)
c.5-12600C>G (n.5-12600C>G)
c.-43-2030C>G (n.-43-2030C>G)
c.-98-26361C>G (n.-98-26361C>G)
n.312C>G
n.4557C>G
n.4598C>G
 dbSNP
17g.43076551G>TCA10592696BRCA1c.4418C>A (p.Ala1473Asp)
c.4421C>A (p.Ala1474Asp)
c.4295C>A (p.Ala1432Asp)
c.4415C>A (p.Ala1472Asp)
c.4343C>A (p.Ala1448Asp)
c.1109C>A (p.Ala370Asp)
c.971C>A (p.Ala324Asp)
c.3533C>A (p.Ala1178Asp)
c.4298C>A (p.Ala1433Asp)
c.4487C>A (p.Ala1496Asp)
c.4280C>A (p.Ala1427Asp)
c.983C>A (p.Ala328Asp)
c.1028C>A (p.Ala343Asp)
c.4484C>A (p.Ala1495Asp)
c.808C>A
c.995C>A (p.Ala332Asp)
c.*4204C>A (n.*4204C>A)
c.712C>A
c.734C>A (p.Ala245Asp)
c.737C>A (p.Ala246Asp)
c.5-12600C>A (n.5-12600C>A)
c.-43-2030C>A (n.-43-2030C>A)
c.-98-26361C>A (n.-98-26361C>A)
n.312C>A
n.4557C>A
n.4598C>A
 ClinVar
17g.43076551_43079399delCA10590062BRCA1c.4358-2788_4418del
c.4358-2785_4421del
c.4232-2785_4295del
c.4352-2785_4415del
c.4280-2785_4343del
c.1046-2785_1109del
c.908-2785_971del
c.3470-2785_3533del
c.4235-2785_4298del
c.4358_4487del
c.4217-2785_4280del
c.923-2788_983del
c.968-2788_1028del
c.4358_4484del
c.679_808del
c.932-2785_995del
c.*4141-2785_*4204del
c.652-2788_712del
c.1049-2788_1109del
c.671-2785_734del
c.674-2785_737del
c.5-15448_5-12600del (n.5-15448_5-12600del)
c.-43-4878_-43-2030del (n.-43-4878_-43-2030del)
c.-98-29209_-98-26361del (n.-98-29209_-98-26361del)
n.252-2788_312del
n.4494-2785_4557del
n.4535-2785_4598del
17g.43076552C>ACA10592697BRCA1c.4417G>T (p.Ala1473Ser)
c.4420G>T (p.Ala1474Ser)
c.4294G>T (p.Ala1432Ser)
c.4414G>T (p.Ala1472Ser)
c.4342G>T (p.Ala1448Ser)
c.1108G>T (p.Ala370Ser)
c.970G>T (p.Ala324Ser)
c.3532G>T (p.Ala1178Ser)
c.4297G>T (p.Ala1433Ser)
c.4486G>T (p.Ala1496Ser)
c.4279G>T (p.Ala1427Ser)
c.982G>T (p.Ala328Ser)
c.1027G>T (p.Ala343Ser)
c.4483G>T (p.Ala1495Ser)
c.807G>T
c.994G>T (p.Ala332Ser)
c.*4203G>T (n.*4203G>T)
c.711G>T
c.733G>T (p.Ala245Ser)
c.736G>T (p.Ala246Ser)
c.5-12601G>T (n.5-12601G>T)
c.-43-2031G>T (n.-43-2031G>T)
c.-98-26362G>T (n.-98-26362G>T)
n.311G>T
n.4556G>T
n.4597G>T
 dbSNP
17g.43076552C=CA2260775494BRCA1c.4417G= (p.Ala1473=)
c.4420G= (p.Ala1474=)
c.4294G= (p.Ala1432=)
c.4414G= (p.Ala1472=)
c.4342G= (p.Ala1448=)
c.1108G= (p.Ala370=)
c.970G= (p.Ala324=)
c.3532G= (p.Ala1178=)
c.4297G= (p.Ala1433=)
c.4486G= (p.Ala1496=)
c.4279G= (p.Ala1427=)
c.982G= (p.Ala328=)
c.1027G= (p.Ala343=)
c.4483G= (p.Ala1495=)
c.807G=
c.994G= (p.Ala332=)
c.*4203G= (n.*4203G=)
c.711G=
c.733G= (p.Ala245=)
c.736G= (p.Ala246=)
c.5-12601G= (n.5-12601G=)
c.-43-2031G= (n.-43-2031G=)
c.-98-26362G= (n.-98-26362G=)
n.311G=
n.4556G=
n.4597G=
17g.43076552C>GCA10592698BRCA1c.4417G>C (p.Ala1473Pro)
c.4420G>C (p.Ala1474Pro)
c.4294G>C (p.Ala1432Pro)
c.4414G>C (p.Ala1472Pro)
c.4342G>C (p.Ala1448Pro)
c.1108G>C (p.Ala370Pro)
c.970G>C (p.Ala324Pro)
c.3532G>C (p.Ala1178Pro)
c.4297G>C (p.Ala1433Pro)
c.4486G>C (p.Ala1496Pro)
c.4279G>C (p.Ala1427Pro)
c.982G>C (p.Ala328Pro)
c.1027G>C (p.Ala343Pro)
c.4483G>C (p.Ala1495Pro)
c.807G>C
c.994G>C (p.Ala332Pro)
c.*4203G>C (n.*4203G>C)
c.711G>C
c.733G>C (p.Ala245Pro)
c.736G>C (p.Ala246Pro)
c.5-12601G>C (n.5-12601G>C)
c.-43-2031G>C (n.-43-2031G>C)
c.-98-26362G>C (n.-98-26362G>C)
n.311G>C
n.4556G>C
n.4597G>C
 dbSNP
17g.43076552C>TCA10592699BRCA1c.4417G>A (p.Ala1473Thr)
c.4420G>A (p.Ala1474Thr)
c.4294G>A (p.Ala1432Thr)
c.4414G>A (p.Ala1472Thr)
c.4342G>A (p.Ala1448Thr)
c.1108G>A (p.Ala370Thr)
c.970G>A (p.Ala324Thr)
c.3532G>A (p.Ala1178Thr)
c.4297G>A (p.Ala1433Thr)
c.4486G>A (p.Ala1496Thr)
c.4279G>A (p.Ala1427Thr)
c.982G>A (p.Ala328Thr)
c.1027G>A (p.Ala343Thr)
c.4483G>A (p.Ala1495Thr)
c.807G>A
c.994G>A (p.Ala332Thr)
c.*4203G>A (n.*4203G>A)
c.711G>A
c.733G>A (p.Ala245Thr)
c.736G>A (p.Ala246Thr)
c.5-12601G>A (n.5-12601G>A)
c.-43-2031G>A (n.-43-2031G>A)
c.-98-26362G>A (n.-98-26362G>A)
n.311G>A
n.4556G>A
n.4597G>A
 ClinVar dbSNP
17g.43076553A=CA2260775495BRCA1c.4416T= (p.Ser1472=)
c.4419T= (p.Ser1473=)
c.4293T= (p.Ser1431=)
c.4413T= (p.Ser1471=)
c.4341T= (p.Ser1447=)
c.1107T= (p.Ser369=)
c.969T= (p.Ser323=)
c.3531T= (p.Ser1177=)
c.4296T= (p.Ser1432=)
c.4485T= (p.Ser1495=)
c.4278T= (p.Ser1426=)
c.981T= (p.Ser327=)
c.1026T= (p.Ser342=)
c.4482T= (p.Ser1494=)
c.806T=
c.993T= (p.Ser331=)
c.*4202T= (n.*4202T=)
c.710T=
c.732T= (p.Ser244=)
c.735T= (p.Ser245=)
c.5-12602T= (n.5-12602T=)
c.-43-2032T= (n.-43-2032T=)
c.-98-26363T= (n.-98-26363T=)
n.310T=
n.4555T=
n.4596T=
17g.43076553A>CCA500146813BRCA1c.4416T>G (p.Ser1472=)
c.4419T>G (p.Ser1473=)
c.4293T>G (p.Ser1431=)
c.4413T>G (p.Ser1471=)
c.4341T>G (p.Ser1447=)
c.1107T>G (p.Ser369=)
c.969T>G (p.Ser323=)
c.3531T>G (p.Ser1177=)
c.4296T>G (p.Ser1432=)
c.4485T>G (p.Ser1495=)
c.4278T>G (p.Ser1426=)
c.981T>G (p.Ser327=)
c.1026T>G (p.Ser342=)
c.4482T>G (p.Ser1494=)
c.806T>G
c.993T>G (p.Ser331=)
c.*4202T>G (n.*4202T>G)
c.710T>G
c.732T>G (p.Ser244=)
c.735T>G (p.Ser245=)
c.5-12602T>G (n.5-12602T>G)
c.-43-2032T>G (n.-43-2032T>G)
c.-98-26363T>G (n.-98-26363T>G)
n.310T>G
n.4555T>G
n.4596T>G
17g.43076553A>GCA500146814BRCA1c.4416T>C (p.Ser1472=)
c.4419T>C (p.Ser1473=)
c.4293T>C (p.Ser1431=)
c.4413T>C (p.Ser1471=)
c.4341T>C (p.Ser1447=)
c.1107T>C (p.Ser369=)
c.969T>C (p.Ser323=)
c.3531T>C (p.Ser1177=)
c.4296T>C (p.Ser1432=)
c.4485T>C (p.Ser1495=)
c.4278T>C (p.Ser1426=)
c.981T>C (p.Ser327=)
c.1026T>C (p.Ser342=)
c.4482T>C (p.Ser1494=)
c.806T>C
c.993T>C (p.Ser331=)
c.*4202T>C (n.*4202T>C)
c.710T>C
c.732T>C (p.Ser244=)
c.735T>C (p.Ser245=)
c.5-12602T>C (n.5-12602T>C)
c.-43-2032T>C (n.-43-2032T>C)
c.-98-26363T>C (n.-98-26363T>C)
n.310T>C
n.4555T>C
n.4596T>C
 ClinVar dbSNP
17g.43076553A>TCA002843BRCA1c.4416T>A (p.Ser1472=)
c.4419T>A (p.Ser1473=)
c.4293T>A (p.Ser1431=)
c.4413T>A (p.Ser1471=)
c.4341T>A (p.Ser1447=)
c.1107T>A (p.Ser369=)
c.969T>A (p.Ser323=)
c.3531T>A (p.Ser1177=)
c.4296T>A (p.Ser1432=)
c.4485T>A (p.Ser1495=)
c.4278T>A (p.Ser1426=)
c.981T>A (p.Ser327=)
c.1026T>A (p.Ser342=)
c.4482T>A (p.Ser1494=)
c.806T>A
c.993T>A (p.Ser331=)
c.*4202T>A (n.*4202T>A)
c.710T>A
c.732T>A (p.Ser244=)
c.735T>A (p.Ser245=)
c.5-12602T>A (n.5-12602T>A)
c.-43-2032T>A (n.-43-2032T>A)
c.-98-26363T>A (n.-98-26363T>A)
n.310T>A
n.4555T>A
n.4596T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43076553_43076572delinsAGAAAGGCCTTCTGGATTCTCA2260775496BRCA1c.4397_4416delinsAGAATCCAGAAGGCCTTTCT (p.Gln1466=)
c.4400_4419delinsAGAATCCAGAAGGCCTTTCT (p.Gln1467=)
c.4274_4293delinsAGAATCCAGAAGGCCTTTCT (p.Gln1425=)
c.4394_4413delinsAGAATCCAGAAGGCCTTTCT (p.Gln1465=)
c.4322_4341delinsAGAATCCAGAAGGCCTTTCT (p.Gln1441=)
c.1088_1107delinsAGAATCCAGAAGGCCTTTCT (p.Gln363=)
c.950_969delinsAGAATCCAGAAGGCCTTTCT (p.Gln317=)
c.3512_3531delinsAGAATCCAGAAGGCCTTTCT (p.Gln1171=)
c.4277_4296delinsAGAATCCAGAAGGCCTTTCT (p.Gln1426=)
c.4466_4485delinsAGAATCCAGAAGGCCTTTCT (p.Gln1489=)
c.4259_4278delinsAGAATCCAGAAGGCCTTTCT (p.Gln1420=)
c.962_981delinsAGAATCCAGAAGGCCTTTCT (p.Gln321=)
c.1007_1026delinsAGAATCCAGAAGGCCTTTCT (p.Gln336=)
c.4463_4482delinsAGAATCCAGAAGGCCTTTCT (p.Gln1488=)
c.787_806delinsAGAATCCAGAAGGCCTTTCT
c.974_993delinsAGAATCCAGAAGGCCTTTCT (p.Gln325=)
c.*4183_*4202delinsAGAATCCAGAAGGCCTTTCT (n.*4183_*4202delinsAGAATCCAGAAGGCCTTTCT)
c.691_710delinsAGAATCCAGAAGGCCTTTCT
c.713_732delinsAGAATCCAGAAGGCCTTTCT (p.Gln238=)
c.716_735delinsAGAATCCAGAAGGCCTTTCT (p.Gln239=)
c.5-12621_5-12602delinsAGAATCCAGAAGGCCTTTCT (n.5-12621_5-12602delinsAGAATCCAGAAGGCCTTTCT)
c.-43-2051_-43-2032delinsAGAATCCAGAAGGCCTTTCT (n.-43-2051_-43-2032delinsAGAATCCAGAAGGCCTTTCT)
c.-98-26382_-98-26363delinsAGAATCCAGAAGGCCTTTCT (n.-98-26382_-98-26363delinsAGAATCCAGAAGGCCTTTCT)
n.291_310delinsAGAATCCAGAAGGCCTTTCT
n.4536_4555delinsAGAATCCAGAAGGCCTTTCT
n.4577_4596delinsAGAATCCAGAAGGCCTTTCT
17g.43076554G>ACA10592700BRCA1c.4415C>T (p.Ser1472Phe)
c.4418C>T (p.Ser1473Phe)
c.4292C>T (p.Ser1431Phe)
c.4412C>T (p.Ser1471Phe)
c.4340C>T (p.Ser1447Phe)
c.1106C>T (p.Ser369Phe)
c.968C>T (p.Ser323Phe)
c.3530C>T (p.Ser1177Phe)
c.4295C>T (p.Ser1432Phe)
c.4484C>T (p.Ser1495Phe)
c.4277C>T (p.Ser1426Phe)
c.980C>T (p.Ser327Phe)
c.1025C>T (p.Ser342Phe)
c.4481C>T (p.Ser1494Phe)
c.805C>T
c.992C>T (p.Ser331Phe)
c.*4201C>T (n.*4201C>T)
c.709C>T
c.731C>T (p.Ser244Phe)
c.734C>T (p.Ser245Phe)
c.5-12603C>T (n.5-12603C>T)
c.-43-2033C>T (n.-43-2033C>T)
c.-98-26364C>T (n.-98-26364C>T)
n.309C>T
n.4554C>T
n.4595C>T
 dbSNP COSMIC COSMIC
17g.43076554G>CCA10592701BRCA1c.4415C>G (p.Ser1472Cys)
c.4418C>G (p.Ser1473Cys)
c.4292C>G (p.Ser1431Cys)
c.4412C>G (p.Ser1471Cys)
c.4340C>G (p.Ser1447Cys)
c.1106C>G (p.Ser369Cys)
c.968C>G (p.Ser323Cys)
c.3530C>G (p.Ser1177Cys)
c.4295C>G (p.Ser1432Cys)
c.4484C>G (p.Ser1495Cys)
c.4277C>G (p.Ser1426Cys)
c.980C>G (p.Ser327Cys)
c.1025C>G (p.Ser342Cys)
c.4481C>G (p.Ser1494Cys)
c.805C>G
c.992C>G (p.Ser331Cys)
c.*4201C>G (n.*4201C>G)
c.709C>G
c.731C>G (p.Ser244Cys)
c.734C>G (p.Ser245Cys)
c.5-12603C>G (n.5-12603C>G)
c.-43-2033C>G (n.-43-2033C>G)
c.-98-26364C>G (n.-98-26364C>G)
n.309C>G
n.4554C>G
n.4595C>G
 dbSNP
17g.43076554G>TCA10592702BRCA1c.4415C>A (p.Ser1472Tyr)
c.4418C>A (p.Ser1473Tyr)
c.4292C>A (p.Ser1431Tyr)
c.4412C>A (p.Ser1471Tyr)
c.4340C>A (p.Ser1447Tyr)
c.1106C>A (p.Ser369Tyr)
c.968C>A (p.Ser323Tyr)
c.3530C>A (p.Ser1177Tyr)
c.4295C>A (p.Ser1432Tyr)
c.4484C>A (p.Ser1495Tyr)
c.4277C>A (p.Ser1426Tyr)
c.980C>A (p.Ser327Tyr)
c.1025C>A (p.Ser342Tyr)
c.4481C>A (p.Ser1494Tyr)
c.805C>A
c.992C>A (p.Ser331Tyr)
c.*4201C>A (n.*4201C>A)
c.709C>A
c.731C>A (p.Ser244Tyr)
c.734C>A (p.Ser245Tyr)
c.5-12603C>A (n.5-12603C>A)
c.-43-2033C>A (n.-43-2033C>A)
c.-98-26364C>A (n.-98-26364C>A)
n.309C>A
n.4554C>A
n.4595C>A
17g.43076554_43076555delinsGACA2260775497BRCA1c.4414_4415delinsTC (p.Ser1472=)
c.4417_4418delinsTC (p.Ser1473=)
c.4291_4292delinsTC (p.Ser1431=)
c.4411_4412delinsTC (p.Ser1471=)
c.4339_4340delinsTC (p.Ser1447=)
c.1105_1106delinsTC (p.Ser369=)
c.967_968delinsTC (p.Ser323=)
c.3529_3530delinsTC (p.Ser1177=)
c.4294_4295delinsTC (p.Ser1432=)
c.4483_4484delinsTC (p.Ser1495=)
c.4276_4277delinsTC (p.Ser1426=)
c.979_980delinsTC (p.Ser327=)
c.1024_1025delinsTC (p.Ser342=)
c.4480_4481delinsTC (p.Ser1494=)
c.804_805delinsTC
c.991_992delinsTC (p.Ser331=)
c.*4200_*4201delinsTC (n.*4200_*4201delinsTC)
c.708_709delinsTC
c.730_731delinsTC (p.Ser244=)
c.733_734delinsTC (p.Ser245=)
c.5-12604_5-12603delinsTC (n.5-12604_5-12603delinsTC)
c.-43-2034_-43-2033delinsTC (n.-43-2034_-43-2033delinsTC)
c.-98-26365_-98-26364delinsTC (n.-98-26365_-98-26364delinsTC)
n.308_309delinsTC
n.4553_4554delinsTC
n.4594_4595delinsTC
17g.43076554_43076556delinsGAACA2260775498BRCA1c.4413_4415delinsTTC (p.Leu1471=)
c.4416_4418delinsTTC (p.Leu1472=)
c.4290_4292delinsTTC (p.Leu1430=)
c.4410_4412delinsTTC (p.Leu1470=)
c.4338_4340delinsTTC (p.Leu1446=)
c.1104_1106delinsTTC (p.Leu368=)
c.966_968delinsTTC (p.Leu322=)
c.3528_3530delinsTTC (p.Leu1176=)
c.4293_4295delinsTTC (p.Leu1431=)
c.4482_4484delinsTTC (p.Leu1494=)
c.4275_4277delinsTTC (p.Leu1425=)
c.978_980delinsTTC (p.Leu326=)
c.1023_1025delinsTTC (p.Leu341=)
c.4479_4481delinsTTC (p.Leu1493=)
c.803_805delinsTTC
c.990_992delinsTTC (p.Leu330=)
c.*4199_*4201delinsTTC (n.*4199_*4201delinsTTC)
c.707_709delinsTTC
c.729_731delinsTTC (p.Leu243=)
c.732_734delinsTTC (p.Leu244=)
c.5-12605_5-12603delinsTTC (n.5-12605_5-12603delinsTTC)
c.-43-2035_-43-2033delinsTTC (n.-43-2035_-43-2033delinsTTC)
c.-98-26366_-98-26364delinsTTC (n.-98-26366_-98-26364delinsTTC)
n.307_309delinsTTC
n.4552_4554delinsTTC
n.4593_4595delinsTTC
17g.43076554_43076572delinsAAACA10580522BRCA1c.4397_4415delinsTTT (p.Gln1466LeufsTer?)
c.4400_4418delinsTTT (p.Gln1467LeufsTer?)
c.4274_4292delinsTTT (p.Gln1425LeufsTer?)
c.4394_4412delinsTTT (p.Gln1465LeufsTer?)
c.4322_4340delinsTTT (p.Gln1441LeufsTer?)
c.1088_1106delinsTTT (p.Gln363LeufsTer?)
c.950_968delinsTTT (p.Gln317LeufsTer?)
c.3512_3530delinsTTT (p.Gln1171LeufsTer?)
c.4277_4295delinsTTT (p.Gln1426LeufsTer?)
c.4466_4484delinsTTT (p.Gln1489LeufsTer?)
c.4259_4277delinsTTT (p.Gln1420LeufsTer?)
c.962_980delinsTTT (p.Gln321LeufsTer?)
c.1007_1025delinsTTT (p.Gln336LeufsTer?)
c.4463_4481delinsTTT (p.Gln1488LeufsTer?)
c.787_805delinsTTT
c.974_992delinsTTT (p.Gln325LeufsTer?)
c.*4183_*4201delinsTTT (n.*4183_*4201delinsTTT)
c.691_709delinsTTT
c.713_731delinsTTT (p.Gln238LeufsTer?)
c.716_734delinsTTT (p.Gln239LeufsTer?)
c.5-12621_5-12603delinsTTT (n.5-12621_5-12603delinsTTT)
c.-43-2051_-43-2033delinsTTT (n.-43-2051_-43-2033delinsTTT)
c.-98-26382_-98-26364delinsTTT (n.-98-26382_-98-26364delinsTTT)
n.291_309delinsTTT
n.4536_4554delinsTTT
n.4577_4595delinsTTT
 ClinVar dbSNP
17g.43076555A=CA2260775499BRCA1c.4414T= (p.Ser1472=)
c.4417T= (p.Ser1473=)
c.4291T= (p.Ser1431=)
c.4411T= (p.Ser1471=)
c.4339T= (p.Ser1447=)
c.1105T= (p.Ser369=)
c.967T= (p.Ser323=)
c.3529T= (p.Ser1177=)
c.4294T= (p.Ser1432=)
c.4483T= (p.Ser1495=)
c.4276T= (p.Ser1426=)
c.979T= (p.Ser327=)
c.1024T= (p.Ser342=)
c.4480T= (p.Ser1494=)
c.804T=
c.991T= (p.Ser331=)
c.*4200T= (n.*4200T=)
c.708T=
c.730T= (p.Ser244=)
c.733T= (p.Ser245=)
c.5-12604T= (n.5-12604T=)
c.-43-2034T= (n.-43-2034T=)
c.-98-26365T= (n.-98-26365T=)
n.308T=
n.4553T=
n.4594T=
17g.43076555A>CCA10592703BRCA1c.4414T>G (p.Ser1472Ala)
c.4417T>G (p.Ser1473Ala)
c.4291T>G (p.Ser1431Ala)
c.4411T>G (p.Ser1471Ala)
c.4339T>G (p.Ser1447Ala)
c.1105T>G (p.Ser369Ala)
c.967T>G (p.Ser323Ala)
c.3529T>G (p.Ser1177Ala)
c.4294T>G (p.Ser1432Ala)
c.4483T>G (p.Ser1495Ala)
c.4276T>G (p.Ser1426Ala)
c.979T>G (p.Ser327Ala)
c.1024T>G (p.Ser342Ala)
c.4480T>G (p.Ser1494Ala)
c.804T>G
c.991T>G (p.Ser331Ala)
c.*4200T>G (n.*4200T>G)
c.708T>G
c.730T>G (p.Ser244Ala)
c.733T>G (p.Ser245Ala)
c.5-12604T>G (n.5-12604T>G)
c.-43-2034T>G (n.-43-2034T>G)
c.-98-26365T>G (n.-98-26365T>G)
n.308T>G
n.4553T>G
n.4594T>G
17g.43076555A>GCA002842BRCA1c.4414T>C (p.Ser1472Pro)
c.4417T>C (p.Ser1473Pro)
c.4291T>C (p.Ser1431Pro)
c.4411T>C (p.Ser1471Pro)
c.4339T>C (p.Ser1447Pro)
c.1105T>C (p.Ser369Pro)
c.967T>C (p.Ser323Pro)
c.3529T>C (p.Ser1177Pro)
c.4294T>C (p.Ser1432Pro)
c.4483T>C (p.Ser1495Pro)
c.4276T>C (p.Ser1426Pro)
c.979T>C (p.Ser327Pro)
c.1024T>C (p.Ser342Pro)
c.4480T>C (p.Ser1494Pro)
c.804T>C
c.991T>C (p.Ser331Pro)
c.*4200T>C (n.*4200T>C)
c.708T>C
c.730T>C (p.Ser244Pro)
c.733T>C (p.Ser245Pro)
c.5-12604T>C (n.5-12604T>C)
c.-43-2034T>C (n.-43-2034T>C)
c.-98-26365T>C (n.-98-26365T>C)
n.308T>C
n.4553T>C
n.4594T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076555A>TCA10592704BRCA1c.4414T>A (p.Ser1472Thr)
c.4417T>A (p.Ser1473Thr)
c.4291T>A (p.Ser1431Thr)
c.4411T>A (p.Ser1471Thr)
c.4339T>A (p.Ser1447Thr)
c.1105T>A (p.Ser369Thr)
c.967T>A (p.Ser323Thr)
c.3529T>A (p.Ser1177Thr)
c.4294T>A (p.Ser1432Thr)
c.4483T>A (p.Ser1495Thr)
c.4276T>A (p.Ser1426Thr)
c.979T>A (p.Ser327Thr)
c.1024T>A (p.Ser342Thr)
c.4480T>A (p.Ser1494Thr)
c.804T>A
c.991T>A (p.Ser331Thr)
c.*4200T>A (n.*4200T>A)
c.708T>A
c.730T>A (p.Ser244Thr)
c.733T>A (p.Ser245Thr)
c.5-12604T>A (n.5-12604T>A)
c.-43-2034T>A (n.-43-2034T>A)
c.-98-26365T>A (n.-98-26365T>A)
n.308T>A
n.4553T>A
n.4594T>A
17g.43076555_43076556delinsCCA002841BRCA1c.4413_4414delinsG (p.Ser1472LeufsTer?)
c.4416_4417delinsG (p.Ser1473LeufsTer?)
c.4290_4291delinsG (p.Ser1431LeufsTer?)
c.4410_4411delinsG (p.Ser1471LeufsTer?)
c.4338_4339delinsG (p.Ser1447LeufsTer?)
c.1104_1105delinsG (p.Ser369LeufsTer?)
c.966_967delinsG (p.Ser323LeufsTer?)
c.3528_3529delinsG (p.Ser1177LeufsTer?)
c.4293_4294delinsG (p.Ser1432LeufsTer?)
c.4482_4483delinsG (p.Ser1495LeufsTer?)
c.4275_4276delinsG (p.Ser1426LeufsTer?)
c.978_979delinsG (p.Ser327LeufsTer?)
c.1023_1024delinsG (p.Ser342LeufsTer?)
c.4479_4480delinsG (p.Ser1494LeufsTer?)
c.803_804delinsG
c.990_991delinsG (p.Ser331LeufsTer?)
c.*4199_*4200delinsG (n.*4199_*4200delinsG)
c.707_708delinsG
c.729_730delinsG (p.Ser244LeufsTer?)
c.732_733delinsG (p.Ser245LeufsTer?)
c.5-12605_5-12604delinsG (n.5-12605_5-12604delinsG)
c.-43-2035_-43-2034delinsG (n.-43-2035_-43-2034delinsG)
c.-98-26366_-98-26365delinsG (n.-98-26366_-98-26365delinsG)
n.307_308delinsG
n.4552_4553delinsG
n.4593_4594delinsG
 ClinVar dbSNP
17g.43076555_43076557delinsCCCA2582342173BRCA1c.4412_4414delinsGG (p.Leu1471ArgfsTer?)
c.4415_4417delinsGG (p.Leu1472ArgfsTer?)
c.4289_4291delinsGG (p.Leu1430ArgfsTer?)
c.4409_4411delinsGG (p.Leu1470ArgfsTer?)
c.4337_4339delinsGG (p.Leu1446ArgfsTer?)
c.1103_1105delinsGG (p.Leu368ArgfsTer?)
c.965_967delinsGG (p.Leu322ArgfsTer?)
c.3527_3529delinsGG (p.Leu1176ArgfsTer?)
c.4292_4294delinsGG (p.Leu1431ArgfsTer?)
c.4481_4483delinsGG (p.Leu1494ArgfsTer?)
c.4274_4276delinsGG (p.Leu1425ArgfsTer?)
c.977_979delinsGG (p.Leu326ArgfsTer?)
c.1022_1024delinsGG (p.Leu341ArgfsTer?)
c.4478_4480delinsGG (p.Leu1493ArgfsTer?)
c.802_804delinsGG
c.989_991delinsGG (p.Leu330ArgfsTer?)
c.*4198_*4200delinsGG (n.*4198_*4200delinsGG)
c.706_708delinsGG
c.728_730delinsGG (p.Leu243ArgfsTer?)
c.731_733delinsGG (p.Leu244ArgfsTer?)
c.5-12606_5-12604delinsGG (n.5-12606_5-12604delinsGG)
c.-43-2036_-43-2034delinsGG (n.-43-2036_-43-2034delinsGG)
c.-98-26367_-98-26365delinsGG (n.-98-26367_-98-26365delinsGG)
n.306_308delinsGG
n.4551_4553delinsGG
n.4592_4594delinsGG
 ClinVar
17g.43076557delCA10589663BRCA1c.4414del (p.Ser1472LeufsTer?)
c.4417del (p.Ser1473LeufsTer?)
c.4291del (p.Ser1431LeufsTer?)
c.4411del (p.Ser1471LeufsTer?)
c.4339del (p.Ser1447LeufsTer?)
c.1105del (p.Ser369LeufsTer?)
c.967del (p.Ser323LeufsTer?)
c.3529del (p.Ser1177LeufsTer?)
c.4294del (p.Ser1432LeufsTer?)
c.4483del (p.Ser1495LeufsTer?)
c.4276del (p.Ser1426LeufsTer?)
c.979del (p.Ser327LeufsTer?)
c.1024del (p.Ser342LeufsTer?)
c.4480del (p.Ser1494LeufsTer?)
c.804del
c.991del (p.Ser331LeufsTer?)
c.*4200del (n.*4200del)
c.708del
c.730del (p.Ser244LeufsTer?)
c.733del (p.Ser245LeufsTer?)
c.5-12604del (n.5-12604del)
c.-43-2034del (n.-43-2034del)
c.-98-26365del (n.-98-26365del)
n.308del
n.4553del
n.4594del
 ClinVar dbSNP
17g.43076556_43076557delCA2499224415BRCA1c.4413_4414del (p.Ser1472CysfsTer2)
c.4416_4417del (p.Ser1473CysfsTer2)
c.4290_4291del (p.Ser1431CysfsTer2)
c.4410_4411del (p.Ser1471CysfsTer2)
c.4338_4339del (p.Ser1447CysfsTer2)
c.1104_1105del (p.Ser369CysfsTer2)
c.966_967del (p.Ser323CysfsTer2)
c.3528_3529del (p.Ser1177CysfsTer2)
c.4293_4294del (p.Ser1432CysfsTer2)
c.4482_4483del (p.Ser1495CysfsTer2)
c.4275_4276del (p.Ser1426CysfsTer2)
c.978_979del (p.Ser327CysfsTer2)
c.1023_1024del (p.Ser342CysfsTer2)
c.4479_4480del (p.Ser1494CysfsTer2)
c.803_804del
c.990_991del (p.Ser331CysfsTer2)
c.*4199_*4200del (n.*4199_*4200del)
c.707_708del
c.729_730del (p.Ser244CysfsTer2)
c.732_733del (p.Ser245CysfsTer2)
c.5-12605_5-12604del (n.5-12605_5-12604del)
c.-43-2035_-43-2034del (n.-43-2035_-43-2034del)
c.-98-26366_-98-26365del (n.-98-26366_-98-26365del)
n.307_308del
n.4552_4553del
n.4593_4594del
 ClinVar dbSNP
17g.43076556A=CA2260775500BRCA1c.4413T= (p.Leu1471=)
c.4416T= (p.Leu1472=)
c.4290T= (p.Leu1430=)
c.4410T= (p.Leu1470=)
c.4338T= (p.Leu1446=)
c.1104T= (p.Leu368=)
c.966T= (p.Leu322=)
c.3528T= (p.Leu1176=)
c.4293T= (p.Leu1431=)
c.4482T= (p.Leu1494=)
c.4275T= (p.Leu1425=)
c.978T= (p.Leu326=)
c.1023T= (p.Leu341=)
c.4479T= (p.Leu1493=)
c.803T=
c.990T= (p.Leu330=)
c.*4199T= (n.*4199T=)
c.707T=
c.729T= (p.Leu243=)
c.732T= (p.Leu244=)
c.5-12605T= (n.5-12605T=)
c.-43-2035T= (n.-43-2035T=)
c.-98-26366T= (n.-98-26366T=)
n.307T=
n.4552T=
n.4593T=
17g.43076556A>CCA500146815BRCA1c.4413T>G (p.Leu1471=)
c.4416T>G (p.Leu1472=)
c.4290T>G (p.Leu1430=)
c.4410T>G (p.Leu1470=)
c.4338T>G (p.Leu1446=)
c.1104T>G (p.Leu368=)
c.966T>G (p.Leu322=)
c.3528T>G (p.Leu1176=)
c.4293T>G (p.Leu1431=)
c.4482T>G (p.Leu1494=)
c.4275T>G (p.Leu1425=)
c.978T>G (p.Leu326=)
c.1023T>G (p.Leu341=)
c.4479T>G (p.Leu1493=)
c.803T>G
c.990T>G (p.Leu330=)
c.*4199T>G (n.*4199T>G)
c.707T>G
c.729T>G (p.Leu243=)
c.732T>G (p.Leu244=)
c.5-12605T>G (n.5-12605T>G)
c.-43-2035T>G (n.-43-2035T>G)
c.-98-26366T>G (n.-98-26366T>G)
n.307T>G
n.4552T>G
n.4593T>G
 ClinVar dbSNP
17g.43076556A>GCA060246BRCA1c.4413T>C (p.Leu1471=)
c.4416T>C (p.Leu1472=)
c.4290T>C (p.Leu1430=)
c.4410T>C (p.Leu1470=)
c.4338T>C (p.Leu1446=)
c.1104T>C (p.Leu368=)
c.966T>C (p.Leu322=)
c.3528T>C (p.Leu1176=)
c.4293T>C (p.Leu1431=)
c.4482T>C (p.Leu1494=)
c.4275T>C (p.Leu1425=)
c.978T>C (p.Leu326=)
c.1023T>C (p.Leu341=)
c.4479T>C (p.Leu1493=)
c.803T>C
c.990T>C (p.Leu330=)
c.*4199T>C (n.*4199T>C)
c.707T>C
c.729T>C (p.Leu243=)
c.732T>C (p.Leu244=)
c.5-12605T>C (n.5-12605T>C)
c.-43-2035T>C (n.-43-2035T>C)
c.-98-26366T>C (n.-98-26366T>C)
n.307T>C
n.4552T>C
n.4593T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43076556A>TCA500146816BRCA1c.4413T>A (p.Leu1471=)
c.4416T>A (p.Leu1472=)
c.4290T>A (p.Leu1430=)
c.4410T>A (p.Leu1470=)
c.4338T>A (p.Leu1446=)
c.1104T>A (p.Leu368=)
c.966T>A (p.Leu322=)
c.3528T>A (p.Leu1176=)
c.4293T>A (p.Leu1431=)
c.4482T>A (p.Leu1494=)
c.4275T>A (p.Leu1425=)
c.978T>A (p.Leu326=)
c.1023T>A (p.Leu341=)
c.4479T>A (p.Leu1493=)
c.803T>A
c.990T>A (p.Leu330=)
c.*4199T>A (n.*4199T>A)
c.707T>A
c.729T>A (p.Leu243=)
c.732T>A (p.Leu244=)
c.5-12605T>A (n.5-12605T>A)
c.-43-2035T>A (n.-43-2035T>A)
c.-98-26366T>A (n.-98-26366T>A)
n.307T>A
n.4552T>A
n.4593T>A
 dbSNP
17g.43076557A>CCA10592705BRCA1c.4412T>G (p.Leu1471Arg)
c.4415T>G (p.Leu1472Arg)
c.4289T>G (p.Leu1430Arg)
c.4409T>G (p.Leu1470Arg)
c.4337T>G (p.Leu1446Arg)
c.1103T>G (p.Leu368Arg)
c.965T>G (p.Leu322Arg)
c.3527T>G (p.Leu1176Arg)
c.4292T>G (p.Leu1431Arg)
c.4481T>G (p.Leu1494Arg)
c.4274T>G (p.Leu1425Arg)
c.977T>G (p.Leu326Arg)
c.1022T>G (p.Leu341Arg)
c.4478T>G (p.Leu1493Arg)
c.802T>G
c.989T>G (p.Leu330Arg)
c.*4198T>G (n.*4198T>G)
c.706T>G
c.728T>G (p.Leu243Arg)
c.731T>G (p.Leu244Arg)
c.5-12606T>G (n.5-12606T>G)
c.-43-2036T>G (n.-43-2036T>G)
c.-98-26367T>G (n.-98-26367T>G)
n.306T>G
n.4551T>G
n.4592T>G
17g.43076557A>GCA10592706BRCA1c.4412T>C (p.Leu1471Pro)
c.4415T>C (p.Leu1472Pro)
c.4289T>C (p.Leu1430Pro)
c.4409T>C (p.Leu1470Pro)
c.4337T>C (p.Leu1446Pro)
c.1103T>C (p.Leu368Pro)
c.965T>C (p.Leu322Pro)
c.3527T>C (p.Leu1176Pro)
c.4292T>C (p.Leu1431Pro)
c.4481T>C (p.Leu1494Pro)
c.4274T>C (p.Leu1425Pro)
c.977T>C (p.Leu326Pro)
c.1022T>C (p.Leu341Pro)
c.4478T>C (p.Leu1493Pro)
c.802T>C
c.989T>C (p.Leu330Pro)
c.*4198T>C (n.*4198T>C)
c.706T>C
c.728T>C (p.Leu243Pro)
c.731T>C (p.Leu244Pro)
c.5-12606T>C (n.5-12606T>C)
c.-43-2036T>C (n.-43-2036T>C)
c.-98-26367T>C (n.-98-26367T>C)
n.306T>C
n.4551T>C
n.4592T>C
17g.43076557A>TCA10592707BRCA1c.4412T>A (p.Leu1471His)
c.4415T>A (p.Leu1472His)
c.4289T>A (p.Leu1430His)
c.4409T>A (p.Leu1470His)
c.4337T>A (p.Leu1446His)
c.1103T>A (p.Leu368His)
c.965T>A (p.Leu322His)
c.3527T>A (p.Leu1176His)
c.4292T>A (p.Leu1431His)
c.4481T>A (p.Leu1494His)
c.4274T>A (p.Leu1425His)
c.977T>A (p.Leu326His)
c.1022T>A (p.Leu341His)
c.4478T>A (p.Leu1493His)
c.802T>A
c.989T>A (p.Leu330His)
c.*4198T>A (n.*4198T>A)
c.706T>A
c.728T>A (p.Leu243His)
c.731T>A (p.Leu244His)
c.5-12606T>A (n.5-12606T>A)
c.-43-2036T>A (n.-43-2036T>A)
c.-98-26367T>A (n.-98-26367T>A)
n.306T>A
n.4551T>A
n.4592T>A
 dbSNP
17g.43076557_43076558delinsAGCA2260775501BRCA1c.4411_4412delinsCT (p.Leu1471=)
c.4414_4415delinsCT (p.Leu1472=)
c.4288_4289delinsCT (p.Leu1430=)
c.4408_4409delinsCT (p.Leu1470=)
c.4336_4337delinsCT (p.Leu1446=)
c.1102_1103delinsCT (p.Leu368=)
c.964_965delinsCT (p.Leu322=)
c.3526_3527delinsCT (p.Leu1176=)
c.4291_4292delinsCT (p.Leu1431=)
c.4480_4481delinsCT (p.Leu1494=)
c.4273_4274delinsCT (p.Leu1425=)
c.976_977delinsCT (p.Leu326=)
c.1021_1022delinsCT (p.Leu341=)
c.4477_4478delinsCT (p.Leu1493=)
c.801_802delinsCT
c.988_989delinsCT (p.Leu330=)
c.*4197_*4198delinsCT (n.*4197_*4198delinsCT)
c.705_706delinsCT
c.727_728delinsCT (p.Leu243=)
c.730_731delinsCT (p.Leu244=)
c.5-12607_5-12606delinsCT (n.5-12607_5-12606delinsCT)
c.-43-2037_-43-2036delinsCT (n.-43-2037_-43-2036delinsCT)
c.-98-26368_-98-26367delinsCT (n.-98-26368_-98-26367delinsCT)
n.305_306delinsCT
n.4550_4551delinsCT
n.4591_4592delinsCT
17g.43076557_43076572delCA2695225924BRCA1c.4397_4412del (p.Gln1466LeufsTer?)
c.4400_4415del (p.Gln1467LeufsTer?)
c.4274_4289del (p.Gln1425LeufsTer?)
c.4394_4409del (p.Gln1465LeufsTer?)
c.4322_4337del (p.Gln1441LeufsTer?)
c.1088_1103del (p.Gln363LeufsTer?)
c.950_965del (p.Gln317LeufsTer?)
c.3512_3527del (p.Gln1171LeufsTer?)
c.4277_4292del (p.Gln1426LeufsTer?)
c.4466_4481del (p.Gln1489LeufsTer?)
c.4259_4274del (p.Gln1420LeufsTer?)
c.962_977del (p.Gln321LeufsTer?)
c.1007_1022del (p.Gln336LeufsTer?)
c.4463_4478del (p.Gln1488LeufsTer?)
c.787_802del
c.974_989del (p.Gln325LeufsTer?)
c.*4183_*4198del (n.*4183_*4198del)
c.691_706del
c.713_728del (p.Gln238LeufsTer?)
c.716_731del (p.Gln239LeufsTer?)
c.5-12621_5-12606del (n.5-12621_5-12606del)
c.-43-2051_-43-2036del (n.-43-2051_-43-2036del)
c.-98-26382_-98-26367del (n.-98-26382_-98-26367del)
n.291_306del
n.4536_4551del
n.4577_4592del
17g.43076558G>ACA002840BRCA1c.4411C>T (p.Leu1471Phe)
c.4414C>T (p.Leu1472Phe)
c.4288C>T (p.Leu1430Phe)
c.4408C>T (p.Leu1470Phe)
c.4336C>T (p.Leu1446Phe)
c.1102C>T (p.Leu368Phe)
c.964C>T (p.Leu322Phe)
c.3526C>T (p.Leu1176Phe)
c.4291C>T (p.Leu1431Phe)
c.4480C>T (p.Leu1494Phe)
c.4273C>T (p.Leu1425Phe)
c.976C>T (p.Leu326Phe)
c.1021C>T (p.Leu341Phe)
c.4477C>T (p.Leu1493Phe)
c.801C>T
c.988C>T (p.Leu330Phe)
c.*4197C>T (n.*4197C>T)
c.705C>T
c.727C>T (p.Leu243Phe)
c.730C>T (p.Leu244Phe)
c.5-12607C>T (n.5-12607C>T)
c.-43-2037C>T (n.-43-2037C>T)
c.-98-26368C>T (n.-98-26368C>T)
n.305C>T
n.4550C>T
n.4591C>T
 ClinVar dbSNP gnomAD v4
17g.43076558G>CCA10592708BRCA1c.4411C>G (p.Leu1471Val)
c.4414C>G (p.Leu1472Val)
c.4288C>G (p.Leu1430Val)
c.4408C>G (p.Leu1470Val)
c.4336C>G (p.Leu1446Val)
c.1102C>G (p.Leu368Val)
c.964C>G (p.Leu322Val)
c.3526C>G (p.Leu1176Val)
c.4291C>G (p.Leu1431Val)
c.4480C>G (p.Leu1494Val)
c.4273C>G (p.Leu1425Val)
c.976C>G (p.Leu326Val)
c.1021C>G (p.Leu341Val)
c.4477C>G (p.Leu1493Val)
c.801C>G
c.988C>G (p.Leu330Val)
c.*4197C>G (n.*4197C>G)
c.705C>G
c.727C>G (p.Leu243Val)
c.730C>G (p.Leu244Val)
c.5-12607C>G (n.5-12607C>G)
c.-43-2037C>G (n.-43-2037C>G)
c.-98-26368C>G (n.-98-26368C>G)
n.305C>G
n.4550C>G
n.4591C>G
 dbSNP gnomAD v4
17g.43076558G=CA2260775502BRCA1c.4411C= (p.Leu1471=)
c.4414C= (p.Leu1472=)
c.4288C= (p.Leu1430=)
c.4408C= (p.Leu1470=)
c.4336C= (p.Leu1446=)
c.1102C= (p.Leu368=)
c.964C= (p.Leu322=)
c.3526C= (p.Leu1176=)
c.4291C= (p.Leu1431=)
c.4480C= (p.Leu1494=)
c.4273C= (p.Leu1425=)
c.976C= (p.Leu326=)
c.1021C= (p.Leu341=)
c.4477C= (p.Leu1493=)
c.801C=
c.988C= (p.Leu330=)
c.*4197C= (n.*4197C=)
c.705C=
c.727C= (p.Leu243=)
c.730C= (p.Leu244=)
c.5-12607C= (n.5-12607C=)
c.-43-2037C= (n.-43-2037C=)
c.-98-26368C= (n.-98-26368C=)
n.305C=
n.4550C=
n.4591C=
17g.43076558G>TCA10592709BRCA1c.4411C>A (p.Leu1471Ile)
c.4414C>A (p.Leu1472Ile)
c.4288C>A (p.Leu1430Ile)
c.4408C>A (p.Leu1470Ile)
c.4336C>A (p.Leu1446Ile)
c.1102C>A (p.Leu368Ile)
c.964C>A (p.Leu322Ile)
c.3526C>A (p.Leu1176Ile)
c.4291C>A (p.Leu1431Ile)
c.4480C>A (p.Leu1494Ile)
c.4273C>A (p.Leu1425Ile)
c.976C>A (p.Leu326Ile)
c.1021C>A (p.Leu341Ile)
c.4477C>A (p.Leu1493Ile)
c.801C>A
c.988C>A (p.Leu330Ile)
c.*4197C>A (n.*4197C>A)
c.705C>A
c.727C>A (p.Leu243Ile)
c.730C>A (p.Leu244Ile)
c.5-12607C>A (n.5-12607C>A)
c.-43-2037C>A (n.-43-2037C>A)
c.-98-26368C>A (n.-98-26368C>A)
n.305C>A
n.4550C>A
n.4591C>A
 dbSNP gnomAD v2
17g.43076559delCA913188857BRCA1c.4411del (p.Leu1471PhefsTer?)
c.4414del (p.Leu1472PhefsTer?)
c.4288del (p.Leu1430PhefsTer?)
c.4408del (p.Leu1470PhefsTer?)
c.4336del (p.Leu1446PhefsTer?)
c.1102del (p.Leu368PhefsTer?)
c.964del (p.Leu322PhefsTer?)
c.3526del (p.Leu1176PhefsTer?)
c.4291del (p.Leu1431PhefsTer?)
c.4480del (p.Leu1494PhefsTer?)
c.4273del (p.Leu1425PhefsTer?)
c.976del (p.Leu326PhefsTer?)
c.1021del (p.Leu341PhefsTer?)
c.4477del (p.Leu1493PhefsTer?)
c.801del
c.988del (p.Leu330PhefsTer?)
c.*4197del (n.*4197del)
c.705del
c.727del (p.Leu243PhefsTer?)
c.730del (p.Leu244PhefsTer?)
c.5-12607del (n.5-12607del)
c.-43-2037del (n.-43-2037del)
c.-98-26368del (n.-98-26368del)
n.305del
n.4550del
n.4591del
 ClinVar dbSNP
17g.43076559G>ACA060235BRCA1c.4410C>T (p.Gly1470=)
c.4413C>T (p.Gly1471=)
c.4287C>T (p.Gly1429=)
c.4407C>T (p.Gly1469=)
c.4335C>T (p.Gly1445=)
c.1101C>T (p.Gly367=)
c.963C>T (p.Gly321=)
c.3525C>T (p.Gly1175=)
c.4290C>T (p.Gly1430=)
c.4479C>T (p.Gly1493=)
c.4272C>T (p.Gly1424=)
c.975C>T (p.Gly325=)
c.1020C>T (p.Gly340=)
c.4476C>T (p.Gly1492=)
c.800C>T
c.987C>T (p.Gly329=)
c.*4196C>T (n.*4196C>T)
c.704C>T
c.726C>T (p.Gly242=)
c.729C>T (p.Gly243=)
c.5-12608C>T (n.5-12608C>T)
c.-43-2038C>T (n.-43-2038C>T)
c.-98-26369C>T (n.-98-26369C>T)
n.304C>T
n.4549C>T
n.4590C>T
 ClinVar dbSNP ExAC
17g.43076559G>CCA500146818BRCA1c.4410C>G (p.Gly1470=)
c.4413C>G (p.Gly1471=)
c.4287C>G (p.Gly1429=)
c.4407C>G (p.Gly1469=)
c.4335C>G (p.Gly1445=)
c.1101C>G (p.Gly367=)
c.963C>G (p.Gly321=)
c.3525C>G (p.Gly1175=)
c.4290C>G (p.Gly1430=)
c.4479C>G (p.Gly1493=)
c.4272C>G (p.Gly1424=)
c.975C>G (p.Gly325=)
c.1020C>G (p.Gly340=)
c.4476C>G (p.Gly1492=)
c.800C>G
c.987C>G (p.Gly329=)
c.*4196C>G (n.*4196C>G)
c.704C>G
c.726C>G (p.Gly242=)
c.729C>G (p.Gly243=)
c.5-12608C>G (n.5-12608C>G)
c.-43-2038C>G (n.-43-2038C>G)
c.-98-26369C>G (n.-98-26369C>G)
n.304C>G
n.4549C>G
n.4590C>G
 dbSNP
17g.43076559G=CA2260775503BRCA1c.4410C= (p.Gly1470=)
c.4413C= (p.Gly1471=)
c.4287C= (p.Gly1429=)
c.4407C= (p.Gly1469=)
c.4335C= (p.Gly1445=)
c.1101C= (p.Gly367=)
c.963C= (p.Gly321=)
c.3525C= (p.Gly1175=)
c.4290C= (p.Gly1430=)
c.4479C= (p.Gly1493=)
c.4272C= (p.Gly1424=)
c.975C= (p.Gly325=)
c.1020C= (p.Gly340=)
c.4476C= (p.Gly1492=)
c.800C=
c.987C= (p.Gly329=)
c.*4196C= (n.*4196C=)
c.704C=
c.726C= (p.Gly242=)
c.729C= (p.Gly243=)
c.5-12608C= (n.5-12608C=)
c.-43-2038C= (n.-43-2038C=)
c.-98-26369C= (n.-98-26369C=)
n.304C=
n.4549C=
n.4590C=
17g.43076559G>TCA500146817BRCA1c.4410C>A (p.Gly1470=)
c.4413C>A (p.Gly1471=)
c.4287C>A (p.Gly1429=)
c.4407C>A (p.Gly1469=)
c.4335C>A (p.Gly1445=)
c.1101C>A (p.Gly367=)
c.963C>A (p.Gly321=)
c.3525C>A (p.Gly1175=)
c.4290C>A (p.Gly1430=)
c.4479C>A (p.Gly1493=)
c.4272C>A (p.Gly1424=)
c.975C>A (p.Gly325=)
c.1020C>A (p.Gly340=)
c.4476C>A (p.Gly1492=)
c.800C>A
c.987C>A (p.Gly329=)
c.*4196C>A (n.*4196C>A)
c.704C>A
c.726C>A (p.Gly242=)
c.729C>A (p.Gly243=)
c.5-12608C>A (n.5-12608C>A)
c.-43-2038C>A (n.-43-2038C>A)
c.-98-26369C>A (n.-98-26369C>A)
n.304C>A
n.4549C>A
n.4590C>A
 dbSNP
17g.43076559_43076560delinsGCCA2260775504BRCA1c.4409_4410delinsGC (p.Gly1470=)
c.4412_4413delinsGC (p.Gly1471=)
c.4286_4287delinsGC (p.Gly1429=)
c.4406_4407delinsGC (p.Gly1469=)
c.4334_4335delinsGC (p.Gly1445=)
c.1100_1101delinsGC (p.Gly367=)
c.962_963delinsGC (p.Gly321=)
c.3524_3525delinsGC (p.Gly1175=)
c.4289_4290delinsGC (p.Gly1430=)
c.4478_4479delinsGC (p.Gly1493=)
c.4271_4272delinsGC (p.Gly1424=)
c.974_975delinsGC (p.Gly325=)
c.1019_1020delinsGC (p.Gly340=)
c.4475_4476delinsGC (p.Gly1492=)
c.799_800delinsGC
c.986_987delinsGC (p.Gly329=)
c.*4195_*4196delinsGC (n.*4195_*4196delinsGC)
c.703_704delinsGC
c.725_726delinsGC (p.Gly242=)
c.728_729delinsGC (p.Gly243=)
c.5-12609_5-12608delinsGC (n.5-12609_5-12608delinsGC)
c.-43-2039_-43-2038delinsGC (n.-43-2039_-43-2038delinsGC)
c.-98-26370_-98-26369delinsGC (n.-98-26370_-98-26369delinsGC)
n.303_304delinsGC
n.4548_4549delinsGC
n.4589_4590delinsGC
17g.43076560C>ACA10592710BRCA1c.4409G>T (p.Gly1470Val)
c.4412G>T (p.Gly1471Val)
c.4286G>T (p.Gly1429Val)
c.4406G>T (p.Gly1469Val)
c.4334G>T (p.Gly1445Val)
c.1100G>T (p.Gly367Val)
c.962G>T (p.Gly321Val)
c.3524G>T (p.Gly1175Val)
c.4289G>T (p.Gly1430Val)
c.4478G>T (p.Gly1493Val)
c.4271G>T (p.Gly1424Val)
c.974G>T (p.Gly325Val)
c.1019G>T (p.Gly340Val)
c.4475G>T (p.Gly1492Val)
c.799G>T
c.986G>T (p.Gly329Val)
c.*4195G>T (n.*4195G>T)
c.703G>T
c.725G>T (p.Gly242Val)
c.728G>T (p.Gly243Val)
c.5-12609G>T (n.5-12609G>T)
c.-43-2039G>T (n.-43-2039G>T)
c.-98-26370G>T (n.-98-26370G>T)
n.303G>T
n.4548G>T
n.4589G>T
 ClinVar dbSNP
17g.43076560C=CA2260775505BRCA1c.4409G= (p.Gly1470=)
c.4412G= (p.Gly1471=)
c.4286G= (p.Gly1429=)
c.4406G= (p.Gly1469=)
c.4334G= (p.Gly1445=)
c.1100G= (p.Gly367=)
c.962G= (p.Gly321=)
c.3524G= (p.Gly1175=)
c.4289G= (p.Gly1430=)
c.4478G= (p.Gly1493=)
c.4271G= (p.Gly1424=)
c.974G= (p.Gly325=)
c.1019G= (p.Gly340=)
c.4475G= (p.Gly1492=)
c.799G=
c.986G= (p.Gly329=)
c.*4195G= (n.*4195G=)
c.703G=
c.725G= (p.Gly242=)
c.728G= (p.Gly243=)
c.5-12609G= (n.5-12609G=)
c.-43-2039G= (n.-43-2039G=)
c.-98-26370G= (n.-98-26370G=)
n.303G=
n.4548G=
n.4589G=
17g.43076560C>GCA002834BRCA1c.4409G>C (p.Gly1470Ala)
c.4412G>C (p.Gly1471Ala)
c.4286G>C (p.Gly1429Ala)
c.4406G>C (p.Gly1469Ala)
c.4334G>C (p.Gly1445Ala)
c.1100G>C (p.Gly367Ala)
c.962G>C (p.Gly321Ala)
c.3524G>C (p.Gly1175Ala)
c.4289G>C (p.Gly1430Ala)
c.4478G>C (p.Gly1493Ala)
c.4271G>C (p.Gly1424Ala)
c.974G>C (p.Gly325Ala)
c.1019G>C (p.Gly340Ala)
c.4475G>C (p.Gly1492Ala)
c.799G>C
c.986G>C (p.Gly329Ala)
c.*4195G>C (n.*4195G>C)
c.703G>C
c.725G>C (p.Gly242Ala)
c.728G>C (p.Gly243Ala)
c.5-12609G>C (n.5-12609G>C)
c.-43-2039G>C (n.-43-2039G>C)
c.-98-26370G>C (n.-98-26370G>C)
n.303G>C
n.4548G>C
n.4589G>C
 ClinVar dbSNP
17g.43076560C>TCA10592711BRCA1c.4409G>A (p.Gly1470Asp)
c.4412G>A (p.Gly1471Asp)
c.4286G>A (p.Gly1429Asp)
c.4406G>A (p.Gly1469Asp)
c.4334G>A (p.Gly1445Asp)
c.1100G>A (p.Gly367Asp)
c.962G>A (p.Gly321Asp)
c.3524G>A (p.Gly1175Asp)
c.4289G>A (p.Gly1430Asp)
c.4478G>A (p.Gly1493Asp)
c.4271G>A (p.Gly1424Asp)
c.974G>A (p.Gly325Asp)
c.1019G>A (p.Gly340Asp)
c.4475G>A (p.Gly1492Asp)
c.799G>A
c.986G>A (p.Gly329Asp)
c.*4195G>A (n.*4195G>A)
c.703G>A
c.725G>A (p.Gly242Asp)
c.728G>A (p.Gly243Asp)
c.5-12609G>A (n.5-12609G>A)
c.-43-2039G>A (n.-43-2039G>A)
c.-98-26370G>A (n.-98-26370G>A)
n.303G>A
n.4548G>A
n.4589G>A
 ClinVar dbSNP
17g.43076561delCA16620424BRCA1c.4409del (p.Gly1470AlafsTer?)
c.4412del (p.Gly1471AlafsTer?)
c.4286del (p.Gly1429AlafsTer?)
c.4406del (p.Gly1469AlafsTer?)
c.4334del (p.Gly1445AlafsTer?)
c.1100del (p.Gly367AlafsTer?)
c.962del (p.Gly321AlafsTer?)
c.3524del (p.Gly1175AlafsTer?)
c.4289del (p.Gly1430AlafsTer?)
c.4478del (p.Gly1493AlafsTer?)
c.4271del (p.Gly1424AlafsTer?)
c.974del (p.Gly325AlafsTer?)
c.1019del (p.Gly340AlafsTer?)
c.4475del (p.Gly1492AlafsTer?)
c.799del
c.986del (p.Gly329AlafsTer?)
c.*4195del (n.*4195del)
c.703del
c.725del (p.Gly242AlafsTer?)
c.728del (p.Gly243AlafsTer?)
c.5-12609del (n.5-12609del)
c.-43-2039del (n.-43-2039del)
c.-98-26370del (n.-98-26370del)
n.303del
n.4548del
n.4589del
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076561C>ACA10592712BRCA1c.4408G>T (p.Gly1470Cys)
c.4411G>T (p.Gly1471Cys)
c.4285G>T (p.Gly1429Cys)
c.4405G>T (p.Gly1469Cys)
c.4333G>T (p.Gly1445Cys)
c.1099G>T (p.Gly367Cys)
c.961G>T (p.Gly321Cys)
c.3523G>T (p.Gly1175Cys)
c.4288G>T (p.Gly1430Cys)
c.4477G>T (p.Gly1493Cys)
c.4270G>T (p.Gly1424Cys)
c.973G>T (p.Gly325Cys)
c.1018G>T (p.Gly340Cys)
c.4474G>T (p.Gly1492Cys)
c.798G>T
c.985G>T (p.Gly329Cys)
c.*4194G>T (n.*4194G>T)
c.702G>T
c.724G>T (p.Gly242Cys)
c.727G>T (p.Gly243Cys)
c.5-12610G>T (n.5-12610G>T)
c.-43-2040G>T (n.-43-2040G>T)
c.-98-26371G>T (n.-98-26371G>T)
n.302G>T
n.4547G>T
n.4588G>T
 dbSNP
17g.43076561C=CA2260775506BRCA1c.4408G= (p.Gly1470=)
c.4411G= (p.Gly1471=)
c.4285G= (p.Gly1429=)
c.4405G= (p.Gly1469=)
c.4333G= (p.Gly1445=)
c.1099G= (p.Gly367=)
c.961G= (p.Gly321=)
c.3523G= (p.Gly1175=)
c.4288G= (p.Gly1430=)
c.4477G= (p.Gly1493=)
c.4270G= (p.Gly1424=)
c.973G= (p.Gly325=)
c.1018G= (p.Gly340=)
c.4474G= (p.Gly1492=)
c.798G=
c.985G= (p.Gly329=)
c.*4194G= (n.*4194G=)
c.702G=
c.724G= (p.Gly242=)
c.727G= (p.Gly243=)
c.5-12610G= (n.5-12610G=)
c.-43-2040G= (n.-43-2040G=)
c.-98-26371G= (n.-98-26371G=)
n.302G=
n.4547G=
n.4588G=
17g.43076561C>GCA10592713BRCA1c.4408G>C (p.Gly1470Arg)
c.4411G>C (p.Gly1471Arg)
c.4285G>C (p.Gly1429Arg)
c.4405G>C (p.Gly1469Arg)
c.4333G>C (p.Gly1445Arg)
c.1099G>C (p.Gly367Arg)
c.961G>C (p.Gly321Arg)
c.3523G>C (p.Gly1175Arg)
c.4288G>C (p.Gly1430Arg)
c.4477G>C (p.Gly1493Arg)
c.4270G>C (p.Gly1424Arg)
c.973G>C (p.Gly325Arg)
c.1018G>C (p.Gly340Arg)
c.4474G>C (p.Gly1492Arg)
c.798G>C
c.985G>C (p.Gly329Arg)
c.*4194G>C (n.*4194G>C)
c.702G>C
c.724G>C (p.Gly242Arg)
c.727G>C (p.Gly243Arg)
c.5-12610G>C (n.5-12610G>C)
c.-43-2040G>C (n.-43-2040G>C)
c.-98-26371G>C (n.-98-26371G>C)
n.302G>C
n.4547G>C
n.4588G>C
 dbSNP COSMIC COSMIC
17g.43076561C>TCA10592714BRCA1c.4408G>A (p.Gly1470Ser)
c.4411G>A (p.Gly1471Ser)
c.4285G>A (p.Gly1429Ser)
c.4405G>A (p.Gly1469Ser)
c.4333G>A (p.Gly1445Ser)
c.1099G>A (p.Gly367Ser)
c.961G>A (p.Gly321Ser)
c.3523G>A (p.Gly1175Ser)
c.4288G>A (p.Gly1430Ser)
c.4477G>A (p.Gly1493Ser)
c.4270G>A (p.Gly1424Ser)
c.973G>A (p.Gly325Ser)
c.1018G>A (p.Gly340Ser)
c.4474G>A (p.Gly1492Ser)
c.798G>A
c.985G>A (p.Gly329Ser)
c.*4194G>A (n.*4194G>A)
c.702G>A
c.724G>A (p.Gly242Ser)
c.727G>A (p.Gly243Ser)
c.5-12610G>A (n.5-12610G>A)
c.-43-2040G>A (n.-43-2040G>A)
c.-98-26371G>A (n.-98-26371G>A)
n.302G>A
n.4547G>A
n.4588G>A
 ClinVar dbSNP
17g.43076562T>ACA002829BRCA1c.4407A>T (p.Glu1469Asp)
c.4410A>T (p.Glu1470Asp)
c.4284A>T (p.Glu1428Asp)
c.4404A>T (p.Glu1468Asp)
c.4332A>T (p.Glu1444Asp)
c.1098A>T (p.Glu366Asp)
c.960A>T (p.Glu320Asp)
c.3522A>T (p.Glu1174Asp)
c.4287A>T (p.Glu1429Asp)
c.4476A>T (p.Glu1492Asp)
c.4269A>T (p.Glu1423Asp)
c.972A>T (p.Glu324Asp)
c.1017A>T (p.Glu339Asp)
c.4473A>T (p.Glu1491Asp)
c.797A>T
c.984A>T (p.Glu328Asp)
c.*4193A>T (n.*4193A>T)
c.701A>T
c.723A>T (p.Glu241Asp)
c.726A>T (p.Glu242Asp)
c.5-12611A>T (n.5-12611A>T)
c.-43-2041A>T (n.-43-2041A>T)
c.-98-26372A>T (n.-98-26372A>T)
n.301A>T
n.4546A>T
n.4587A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43076562T>CCA500146822BRCA1c.4407A>G (p.Glu1469=)
c.4410A>G (p.Glu1470=)
c.4284A>G (p.Glu1428=)
c.4404A>G (p.Glu1468=)
c.4332A>G (p.Glu1444=)
c.1098A>G (p.Glu366=)
c.960A>G (p.Glu320=)
c.3522A>G (p.Glu1174=)
c.4287A>G (p.Glu1429=)
c.4476A>G (p.Glu1492=)
c.4269A>G (p.Glu1423=)
c.972A>G (p.Glu324=)
c.1017A>G (p.Glu339=)
c.4473A>G (p.Glu1491=)
c.797A>G
c.984A>G (p.Glu328=)
c.*4193A>G (n.*4193A>G)
c.701A>G
c.723A>G (p.Glu241=)
c.726A>G (p.Glu242=)
c.5-12611A>G (n.5-12611A>G)
c.-43-2041A>G (n.-43-2041A>G)
c.-98-26372A>G (n.-98-26372A>G)
n.301A>G
n.4546A>G
n.4587A>G
 ClinVar gnomAD v4
17g.43076562T>GCA10592715BRCA1c.4407A>C (p.Glu1469Asp)
c.4410A>C (p.Glu1470Asp)
c.4284A>C (p.Glu1428Asp)
c.4404A>C (p.Glu1468Asp)
c.4332A>C (p.Glu1444Asp)
c.1098A>C (p.Glu366Asp)
c.960A>C (p.Glu320Asp)
c.3522A>C (p.Glu1174Asp)
c.4287A>C (p.Glu1429Asp)
c.4476A>C (p.Glu1492Asp)
c.4269A>C (p.Glu1423Asp)
c.972A>C (p.Glu324Asp)
c.1017A>C (p.Glu339Asp)
c.4473A>C (p.Glu1491Asp)
c.797A>C
c.984A>C (p.Glu328Asp)
c.*4193A>C (n.*4193A>C)
c.701A>C
c.723A>C (p.Glu241Asp)
c.726A>C (p.Glu242Asp)
c.5-12611A>C (n.5-12611A>C)
c.-43-2041A>C (n.-43-2041A>C)
c.-98-26372A>C (n.-98-26372A>C)
n.301A>C
n.4546A>C
n.4587A>C
17g.43076562T=CA2260775507BRCA1c.4407A= (p.Glu1469=)
c.4410A= (p.Glu1470=)
c.4284A= (p.Glu1428=)
c.4404A= (p.Glu1468=)
c.4332A= (p.Glu1444=)
c.1098A= (p.Glu366=)
c.960A= (p.Glu320=)
c.3522A= (p.Glu1174=)
c.4287A= (p.Glu1429=)
c.4476A= (p.Glu1492=)
c.4269A= (p.Glu1423=)
c.972A= (p.Glu324=)
c.1017A= (p.Glu339=)
c.4473A= (p.Glu1491=)
c.797A=
c.984A= (p.Glu328=)
c.*4193A= (n.*4193A=)
c.701A=
c.723A= (p.Glu241=)
c.726A= (p.Glu242=)
c.5-12611A= (n.5-12611A=)
c.-43-2041A= (n.-43-2041A=)
c.-98-26372A= (n.-98-26372A=)
n.301A=
n.4546A=
n.4587A=
17g.43076563dupCA915950045BRCA1c.4407dup (p.Gly1470ArgfsTer5)
c.4410dup (p.Gly1471ArgfsTer5)
c.4284dup (p.Gly1429ArgfsTer5)
c.4404dup (p.Gly1469ArgfsTer5)
c.4332dup (p.Gly1445ArgfsTer5)
c.1098dup (p.Gly367ArgfsTer5)
c.960dup (p.Gly321ArgfsTer5)
c.3522dup (p.Gly1175ArgfsTer5)
c.4287dup (p.Gly1430ArgfsTer5)
c.4476dup (p.Gly1493ArgfsTer5)
c.4269dup (p.Gly1424ArgfsTer5)
c.972dup (p.Gly325ArgfsTer5)
c.1017dup (p.Gly340ArgfsTer5)
c.4473dup (p.Gly1492ArgfsTer5)
c.797dup
c.984dup (p.Gly329ArgfsTer5)
c.*4193dup (n.*4193dup)
c.701dup
c.723dup (p.Gly242ArgfsTer5)
c.726dup (p.Gly243ArgfsTer5)
c.5-12611dup (n.5-12611dup)
c.-43-2041dup (n.-43-2041dup)
c.-98-26372dup (n.-98-26372dup)
n.301dup
n.4546dup
n.4587dup
 ClinVar dbSNP
17g.43076563delCA2697559976BRCA1c.4407del (p.Gly1470AlafsTer?)
c.4410del (p.Gly1471AlafsTer?)
c.4284del (p.Gly1429AlafsTer?)
c.4404del (p.Gly1469AlafsTer?)
c.4332del (p.Gly1445AlafsTer?)
c.1098del (p.Gly367AlafsTer?)
c.960del (p.Gly321AlafsTer?)
c.3522del (p.Gly1175AlafsTer?)
c.4287del (p.Gly1430AlafsTer?)
c.4476del (p.Gly1493AlafsTer?)
c.4269del (p.Gly1424AlafsTer?)
c.972del (p.Gly325AlafsTer?)
c.1017del (p.Gly340AlafsTer?)
c.4473del (p.Gly1492AlafsTer?)
c.797del
c.984del (p.Gly329AlafsTer?)
c.*4193del (n.*4193del)
c.701del
c.723del (p.Gly242AlafsTer?)
c.726del (p.Gly243AlafsTer?)
c.5-12611del (n.5-12611del)
c.-43-2041del (n.-43-2041del)
c.-98-26372del (n.-98-26372del)
n.301del
n.4546del
n.4587del
 ClinVar
17g.43076563T>ACA10592716BRCA1c.4406A>T (p.Glu1469Val)
c.4409A>T (p.Glu1470Val)
c.4283A>T (p.Glu1428Val)
c.4403A>T (p.Glu1468Val)
c.4331A>T (p.Glu1444Val)
c.1097A>T (p.Glu366Val)
c.959A>T (p.Glu320Val)
c.3521A>T (p.Glu1174Val)
c.4286A>T (p.Glu1429Val)
c.4475A>T (p.Glu1492Val)
c.4268A>T (p.Glu1423Val)
c.971A>T (p.Glu324Val)
c.1016A>T (p.Glu339Val)
c.4472A>T (p.Glu1491Val)
c.796A>T
c.983A>T (p.Glu328Val)
c.*4192A>T (n.*4192A>T)
c.700A>T
c.722A>T (p.Glu241Val)
c.725A>T (p.Glu242Val)
c.5-12612A>T (n.5-12612A>T)
c.-43-2042A>T (n.-43-2042A>T)
c.-98-26373A>T (n.-98-26373A>T)
n.300A>T
n.4545A>T
n.4586A>T
17g.43076563T>CCA10592717BRCA1c.4406A>G (p.Glu1469Gly)
c.4409A>G (p.Glu1470Gly)
c.4283A>G (p.Glu1428Gly)
c.4403A>G (p.Glu1468Gly)
c.4331A>G (p.Glu1444Gly)
c.1097A>G (p.Glu366Gly)
c.959A>G (p.Glu320Gly)
c.3521A>G (p.Glu1174Gly)
c.4286A>G (p.Glu1429Gly)
c.4475A>G (p.Glu1492Gly)
c.4268A>G (p.Glu1423Gly)
c.971A>G (p.Glu324Gly)
c.1016A>G (p.Glu339Gly)
c.4472A>G (p.Glu1491Gly)
c.796A>G
c.983A>G (p.Glu328Gly)
c.*4192A>G (n.*4192A>G)
c.700A>G
c.722A>G (p.Glu241Gly)
c.725A>G (p.Glu242Gly)
c.5-12612A>G (n.5-12612A>G)
c.-43-2042A>G (n.-43-2042A>G)
c.-98-26373A>G (n.-98-26373A>G)
n.300A>G
n.4545A>G
n.4586A>G
 gnomAD v4
17g.43076563T>GCA10592718BRCA1c.4406A>C (p.Glu1469Ala)
c.4409A>C (p.Glu1470Ala)
c.4283A>C (p.Glu1428Ala)
c.4403A>C (p.Glu1468Ala)
c.4331A>C (p.Glu1444Ala)
c.1097A>C (p.Glu366Ala)
c.959A>C (p.Glu320Ala)
c.3521A>C (p.Glu1174Ala)
c.4286A>C (p.Glu1429Ala)
c.4475A>C (p.Glu1492Ala)
c.4268A>C (p.Glu1423Ala)
c.971A>C (p.Glu324Ala)
c.1016A>C (p.Glu339Ala)
c.4472A>C (p.Glu1491Ala)
c.796A>C
c.983A>C (p.Glu328Ala)
c.*4192A>C (n.*4192A>C)
c.700A>C
c.722A>C (p.Glu241Ala)
c.725A>C (p.Glu242Ala)
c.5-12612A>C (n.5-12612A>C)
c.-43-2042A>C (n.-43-2042A>C)
c.-98-26373A>C (n.-98-26373A>C)
n.300A>C
n.4545A>C
n.4586A>C
17g.43076564C>ACA10589664BRCA1c.4405G>T (p.Glu1469Ter)
c.4408G>T (p.Glu1470Ter)
c.4282G>T (p.Glu1428Ter)
c.4402G>T (p.Glu1468Ter)
c.4330G>T (p.Glu1444Ter)
c.1096G>T (p.Glu366Ter)
c.958G>T (p.Glu320Ter)
c.3520G>T (p.Glu1174Ter)
c.4285G>T (p.Glu1429Ter)
c.4474G>T (p.Glu1492Ter)
c.4267G>T (p.Glu1423Ter)
c.970G>T (p.Glu324Ter)
c.1015G>T (p.Glu339Ter)
c.4471G>T (p.Glu1491Ter)
c.795G>T
c.982G>T (p.Glu328Ter)
c.*4191G>T (n.*4191G>T)
c.699G>T
c.721G>T (p.Glu241Ter)
c.724G>T (p.Glu242Ter)
c.5-12613G>T (n.5-12613G>T)
c.-43-2043G>T (n.-43-2043G>T)
c.-98-26374G>T (n.-98-26374G>T)
n.299G>T
n.4544G>T
n.4585G>T
 ClinVar dbSNP gnomAD v4
17g.43076564C=CA2260775508BRCA1c.4405G= (p.Glu1469=)
c.4408G= (p.Glu1470=)
c.4282G= (p.Glu1428=)
c.4402G= (p.Glu1468=)
c.4330G= (p.Glu1444=)
c.1096G= (p.Glu366=)
c.958G= (p.Glu320=)
c.3520G= (p.Glu1174=)
c.4285G= (p.Glu1429=)
c.4474G= (p.Glu1492=)
c.4267G= (p.Glu1423=)
c.970G= (p.Glu324=)
c.1015G= (p.Glu339=)
c.4471G= (p.Glu1491=)
c.795G=
c.982G= (p.Glu328=)
c.*4191G= (n.*4191G=)
c.699G=
c.721G= (p.Glu241=)
c.724G= (p.Glu242=)
c.5-12613G= (n.5-12613G=)
c.-43-2043G= (n.-43-2043G=)
c.-98-26374G= (n.-98-26374G=)
n.299G=
n.4544G=
n.4585G=
17g.43076564C>GCA10592719BRCA1c.4405G>C (p.Glu1469Gln)
c.4408G>C (p.Glu1470Gln)
c.4282G>C (p.Glu1428Gln)
c.4402G>C (p.Glu1468Gln)
c.4330G>C (p.Glu1444Gln)
c.1096G>C (p.Glu366Gln)
c.958G>C (p.Glu320Gln)
c.3520G>C (p.Glu1174Gln)
c.4285G>C (p.Glu1429Gln)
c.4474G>C (p.Glu1492Gln)
c.4267G>C (p.Glu1423Gln)
c.970G>C (p.Glu324Gln)
c.1015G>C (p.Glu339Gln)
c.4471G>C (p.Glu1491Gln)
c.795G>C
c.982G>C (p.Glu328Gln)
c.*4191G>C (n.*4191G>C)
c.699G>C
c.721G>C (p.Glu241Gln)
c.724G>C (p.Glu242Gln)
c.5-12613G>C (n.5-12613G>C)
c.-43-2043G>C (n.-43-2043G>C)
c.-98-26374G>C (n.-98-26374G>C)
n.299G>C
n.4544G>C
n.4585G>C
 dbSNP
17g.43076564C>TCA10592720BRCA1c.4405G>A (p.Glu1469Lys)
c.4408G>A (p.Glu1470Lys)
c.4282G>A (p.Glu1428Lys)
c.4402G>A (p.Glu1468Lys)
c.4330G>A (p.Glu1444Lys)
c.1096G>A (p.Glu366Lys)
c.958G>A (p.Glu320Lys)
c.3520G>A (p.Glu1174Lys)
c.4285G>A (p.Glu1429Lys)
c.4474G>A (p.Glu1492Lys)
c.4267G>A (p.Glu1423Lys)
c.970G>A (p.Glu324Lys)
c.1015G>A (p.Glu339Lys)
c.4471G>A (p.Glu1491Lys)
c.795G>A
c.982G>A (p.Glu328Lys)
c.*4191G>A (n.*4191G>A)
c.699G>A
c.721G>A (p.Glu241Lys)
c.724G>A (p.Glu242Lys)
c.5-12613G>A (n.5-12613G>A)
c.-43-2043G>A (n.-43-2043G>A)
c.-98-26374G>A (n.-98-26374G>A)
n.299G>A
n.4544G>A
n.4585G>A
 dbSNP
17g.43076565T>ACA500146824BRCA1c.4404A>T (p.Pro1468=)
c.4407A>T (p.Pro1469=)
c.4281A>T (p.Pro1427=)
c.4401A>T (p.Pro1467=)
c.4329A>T (p.Pro1443=)
c.1095A>T (p.Pro365=)
c.957A>T (p.Pro319=)
c.3519A>T (p.Pro1173=)
c.4284A>T (p.Pro1428=)
c.4473A>T (p.Pro1491=)
c.4266A>T (p.Pro1422=)
c.969A>T (p.Pro323=)
c.1014A>T (p.Pro338=)
c.4470A>T (p.Pro1490=)
c.794A>T
c.981A>T (p.Pro327=)
c.*4190A>T (n.*4190A>T)
c.698A>T
c.720A>T (p.Pro240=)
c.723A>T (p.Pro241=)
c.5-12614A>T (n.5-12614A>T)
c.-43-2044A>T (n.-43-2044A>T)
c.-98-26375A>T (n.-98-26375A>T)
n.298A>T
n.4543A>T
n.4584A>T
17g.43076565T>CCA500146825BRCA1c.4404A>G (p.Pro1468=)
c.4407A>G (p.Pro1469=)
c.4281A>G (p.Pro1427=)
c.4401A>G (p.Pro1467=)
c.4329A>G (p.Pro1443=)
c.1095A>G (p.Pro365=)
c.957A>G (p.Pro319=)
c.3519A>G (p.Pro1173=)
c.4284A>G (p.Pro1428=)
c.4473A>G (p.Pro1491=)
c.4266A>G (p.Pro1422=)
c.969A>G (p.Pro323=)
c.1014A>G (p.Pro338=)
c.4470A>G (p.Pro1490=)
c.794A>G
c.981A>G (p.Pro327=)
c.*4190A>G (n.*4190A>G)
c.698A>G
c.720A>G (p.Pro240=)
c.723A>G (p.Pro241=)
c.5-12614A>G (n.5-12614A>G)
c.-43-2044A>G (n.-43-2044A>G)
c.-98-26375A>G (n.-98-26375A>G)
n.298A>G
n.4543A>G
n.4584A>G
17g.43076565T>GCA500146826BRCA1c.4404A>C (p.Pro1468=)
c.4407A>C (p.Pro1469=)
c.4281A>C (p.Pro1427=)
c.4401A>C (p.Pro1467=)
c.4329A>C (p.Pro1443=)
c.1095A>C (p.Pro365=)
c.957A>C (p.Pro319=)
c.3519A>C (p.Pro1173=)
c.4284A>C (p.Pro1428=)
c.4473A>C (p.Pro1491=)
c.4266A>C (p.Pro1422=)
c.969A>C (p.Pro323=)
c.1014A>C (p.Pro338=)
c.4470A>C (p.Pro1490=)
c.794A>C
c.981A>C (p.Pro327=)
c.*4190A>C (n.*4190A>C)
c.698A>C
c.720A>C (p.Pro240=)
c.723A>C (p.Pro241=)
c.5-12614A>C (n.5-12614A>C)
c.-43-2044A>C (n.-43-2044A>C)
c.-98-26375A>C (n.-98-26375A>C)
n.298A>C
n.4543A>C
n.4584A>C
17g.43076565T=CA2260775509BRCA1c.4404A= (p.Pro1468=)
c.4407A= (p.Pro1469=)
c.4281A= (p.Pro1427=)
c.4401A= (p.Pro1467=)
c.4329A= (p.Pro1443=)
c.1095A= (p.Pro365=)
c.957A= (p.Pro319=)
c.3519A= (p.Pro1173=)
c.4284A= (p.Pro1428=)
c.4473A= (p.Pro1491=)
c.4266A= (p.Pro1422=)
c.969A= (p.Pro323=)
c.1014A= (p.Pro338=)
c.4470A= (p.Pro1490=)
c.794A=
c.981A= (p.Pro327=)
c.*4190A= (n.*4190A=)
c.698A=
c.720A= (p.Pro240=)
c.723A= (p.Pro241=)
c.5-12614A= (n.5-12614A=)
c.-43-2044A= (n.-43-2044A=)
c.-98-26375A= (n.-98-26375A=)
n.298A=
n.4543A=
n.4584A=
17g.43076566G>ACA10592721BRCA1c.4403C>T (p.Pro1468Leu)
c.4406C>T (p.Pro1469Leu)
c.4280C>T (p.Pro1427Leu)
c.4400C>T (p.Pro1467Leu)
c.4328C>T (p.Pro1443Leu)
c.1094C>T (p.Pro365Leu)
c.956C>T (p.Pro319Leu)
c.3518C>T (p.Pro1173Leu)
c.4283C>T (p.Pro1428Leu)
c.4472C>T (p.Pro1491Leu)
c.4265C>T (p.Pro1422Leu)
c.968C>T (p.Pro323Leu)
c.1013C>T (p.Pro338Leu)
c.4469C>T (p.Pro1490Leu)
c.793C>T
c.980C>T (p.Pro327Leu)
c.*4189C>T (n.*4189C>T)
c.697C>T
c.719C>T (p.Pro240Leu)
c.722C>T (p.Pro241Leu)
c.5-12615C>T (n.5-12615C>T)
c.-43-2045C>T (n.-43-2045C>T)
c.-98-26376C>T (n.-98-26376C>T)
n.297C>T
n.4542C>T
n.4583C>T
 ClinVar dbSNP
17g.43076566G>CCA10592722BRCA1c.4403C>G (p.Pro1468Arg)
c.4406C>G (p.Pro1469Arg)
c.4280C>G (p.Pro1427Arg)
c.4400C>G (p.Pro1467Arg)
c.4328C>G (p.Pro1443Arg)
c.1094C>G (p.Pro365Arg)
c.956C>G (p.Pro319Arg)
c.3518C>G (p.Pro1173Arg)
c.4283C>G (p.Pro1428Arg)
c.4472C>G (p.Pro1491Arg)
c.4265C>G (p.Pro1422Arg)
c.968C>G (p.Pro323Arg)
c.1013C>G (p.Pro338Arg)
c.4469C>G (p.Pro1490Arg)
c.793C>G
c.980C>G (p.Pro327Arg)
c.*4189C>G (n.*4189C>G)
c.697C>G
c.719C>G (p.Pro240Arg)
c.722C>G (p.Pro241Arg)
c.5-12615C>G (n.5-12615C>G)
c.-43-2045C>G (n.-43-2045C>G)
c.-98-26376C>G (n.-98-26376C>G)
n.297C>G
n.4542C>G
n.4583C>G
 ClinVar dbSNP
17g.43076566G=CA2260775510BRCA1c.4403C= (p.Pro1468=)
c.4406C= (p.Pro1469=)
c.4280C= (p.Pro1427=)
c.4400C= (p.Pro1467=)
c.4328C= (p.Pro1443=)
c.1094C= (p.Pro365=)
c.956C= (p.Pro319=)
c.3518C= (p.Pro1173=)
c.4283C= (p.Pro1428=)
c.4472C= (p.Pro1491=)
c.4265C= (p.Pro1422=)
c.968C= (p.Pro323=)
c.1013C= (p.Pro338=)
c.4469C= (p.Pro1490=)
c.793C=
c.980C= (p.Pro327=)
c.*4189C= (n.*4189C=)
c.697C=
c.719C= (p.Pro240=)
c.722C= (p.Pro241=)
c.5-12615C= (n.5-12615C=)
c.-43-2045C= (n.-43-2045C=)
c.-98-26376C= (n.-98-26376C=)
n.297C=
n.4542C=
n.4583C=
17g.43076566G>TCA10592723BRCA1c.4403C>A (p.Pro1468Gln)
c.4406C>A (p.Pro1469Gln)
c.4280C>A (p.Pro1427Gln)
c.4400C>A (p.Pro1467Gln)
c.4328C>A (p.Pro1443Gln)
c.1094C>A (p.Pro365Gln)
c.956C>A (p.Pro319Gln)
c.3518C>A (p.Pro1173Gln)
c.4283C>A (p.Pro1428Gln)
c.4472C>A (p.Pro1491Gln)
c.4265C>A (p.Pro1422Gln)
c.968C>A (p.Pro323Gln)
c.1013C>A (p.Pro338Gln)
c.4469C>A (p.Pro1490Gln)
c.793C>A
c.980C>A (p.Pro327Gln)
c.*4189C>A (n.*4189C>A)
c.697C>A
c.719C>A (p.Pro240Gln)
c.722C>A (p.Pro241Gln)
c.5-12615C>A (n.5-12615C>A)
c.-43-2045C>A (n.-43-2045C>A)
c.-98-26376C>A (n.-98-26376C>A)
n.297C>A
n.4542C>A
n.4583C>A
17g.43076567dupCA1139665588BRCA1c.4403dup (p.Glu1469ArgfsTer6)
c.4406dup (p.Glu1470ArgfsTer6)
c.4280dup (p.Glu1428ArgfsTer6)
c.4400dup (p.Glu1468ArgfsTer6)
c.4328dup (p.Glu1444ArgfsTer6)
c.1094dup (p.Glu366ArgfsTer6)
c.956dup (p.Glu320ArgfsTer6)
c.3518dup (p.Glu1174ArgfsTer6)
c.4283dup (p.Glu1429ArgfsTer6)
c.4472dup (p.Glu1492ArgfsTer6)
c.4265dup (p.Glu1423ArgfsTer6)
c.968dup (p.Glu324ArgfsTer6)
c.1013dup (p.Glu339ArgfsTer6)
c.4469dup (p.Glu1491ArgfsTer6)
c.793dup
c.980dup (p.Glu328ArgfsTer6)
c.*4189dup (n.*4189dup)
c.697dup
c.719dup (p.Glu241ArgfsTer6)
c.722dup (p.Glu242ArgfsTer6)
c.5-12615dup (n.5-12615dup)
c.-43-2045dup (n.-43-2045dup)
c.-98-26376dup (n.-98-26376dup)
n.297dup
n.4542dup
n.4583dup
 ClinVar dbSNP
17g.43076567delCA2733692815BRCA1c.4403del (p.Pro1468GlnfsTer?)
c.4406del (p.Pro1469GlnfsTer?)
c.4280del (p.Pro1427GlnfsTer?)
c.4400del (p.Pro1467GlnfsTer?)
c.4328del (p.Pro1443GlnfsTer?)
c.1094del (p.Pro365GlnfsTer?)
c.956del (p.Pro319GlnfsTer?)
c.3518del (p.Pro1173GlnfsTer?)
c.4283del (p.Pro1428GlnfsTer?)
c.4472del (p.Pro1491GlnfsTer?)
c.4265del (p.Pro1422GlnfsTer?)
c.968del (p.Pro323GlnfsTer?)
c.1013del (p.Pro338GlnfsTer?)
c.4469del (p.Pro1490GlnfsTer?)
c.793del
c.980del (p.Pro327GlnfsTer?)
c.*4189del (n.*4189del)
c.697del
c.719del (p.Pro240GlnfsTer?)
c.722del (p.Pro241GlnfsTer?)
c.5-12615del (n.5-12615del)
c.-43-2045del (n.-43-2045del)
c.-98-26376del (n.-98-26376del)
n.297del
n.4542del
n.4583del
 ClinVar dbSNP
17g.43076567G>ACA002828BRCA1c.4402C>T (p.Pro1468Ser)
c.4405C>T (p.Pro1469Ser)
c.4279C>T (p.Pro1427Ser)
c.4399C>T (p.Pro1467Ser)
c.4327C>T (p.Pro1443Ser)
c.1093C>T (p.Pro365Ser)
c.955C>T (p.Pro319Ser)
c.3517C>T (p.Pro1173Ser)
c.4282C>T (p.Pro1428Ser)
c.4471C>T (p.Pro1491Ser)
c.4264C>T (p.Pro1422Ser)
c.967C>T (p.Pro323Ser)
c.1012C>T (p.Pro338Ser)
c.4468C>T (p.Pro1490Ser)
c.792C>T
c.979C>T (p.Pro327Ser)
c.*4188C>T (n.*4188C>T)
c.696C>T
c.718C>T (p.Pro240Ser)
c.721C>T (p.Pro241Ser)
c.5-12616C>T (n.5-12616C>T)
c.-43-2046C>T (n.-43-2046C>T)
c.-98-26377C>T (n.-98-26377C>T)
n.296C>T
n.4541C>T
n.4582C>T
 ClinVar dbSNP
17g.43076567G>CCA10592724BRCA1c.4402C>G (p.Pro1468Ala)
c.4405C>G (p.Pro1469Ala)
c.4279C>G (p.Pro1427Ala)
c.4399C>G (p.Pro1467Ala)
c.4327C>G (p.Pro1443Ala)
c.1093C>G (p.Pro365Ala)
c.955C>G (p.Pro319Ala)
c.3517C>G (p.Pro1173Ala)
c.4282C>G (p.Pro1428Ala)
c.4471C>G (p.Pro1491Ala)
c.4264C>G (p.Pro1422Ala)
c.967C>G (p.Pro323Ala)
c.1012C>G (p.Pro338Ala)
c.4468C>G (p.Pro1490Ala)
c.792C>G
c.979C>G (p.Pro327Ala)
c.*4188C>G (n.*4188C>G)
c.696C>G
c.718C>G (p.Pro240Ala)
c.721C>G (p.Pro241Ala)
c.5-12616C>G (n.5-12616C>G)
c.-43-2046C>G (n.-43-2046C>G)
c.-98-26377C>G (n.-98-26377C>G)
n.296C>G
n.4541C>G
n.4582C>G
 dbSNP
17g.43076567G=CA2260775511BRCA1c.4402C= (p.Pro1468=)
c.4405C= (p.Pro1469=)
c.4279C= (p.Pro1427=)
c.4399C= (p.Pro1467=)
c.4327C= (p.Pro1443=)
c.1093C= (p.Pro365=)
c.955C= (p.Pro319=)
c.3517C= (p.Pro1173=)
c.4282C= (p.Pro1428=)
c.4471C= (p.Pro1491=)
c.4264C= (p.Pro1422=)
c.967C= (p.Pro323=)
c.1012C= (p.Pro338=)
c.4468C= (p.Pro1490=)
c.792C=
c.979C= (p.Pro327=)
c.*4188C= (n.*4188C=)
c.696C=
c.718C= (p.Pro240=)
c.721C= (p.Pro241=)
c.5-12616C= (n.5-12616C=)
c.-43-2046C= (n.-43-2046C=)
c.-98-26377C= (n.-98-26377C=)
n.296C=
n.4541C=
n.4582C=
17g.43076567G>TCA10592725BRCA1c.4402C>A (p.Pro1468Thr)
c.4405C>A (p.Pro1469Thr)
c.4279C>A (p.Pro1427Thr)
c.4399C>A (p.Pro1467Thr)
c.4327C>A (p.Pro1443Thr)
c.1093C>A (p.Pro365Thr)
c.955C>A (p.Pro319Thr)
c.3517C>A (p.Pro1173Thr)
c.4282C>A (p.Pro1428Thr)
c.4471C>A (p.Pro1491Thr)
c.4264C>A (p.Pro1422Thr)
c.967C>A (p.Pro323Thr)
c.1012C>A (p.Pro338Thr)
c.4468C>A (p.Pro1490Thr)
c.792C>A
c.979C>A (p.Pro327Thr)
c.*4188C>A (n.*4188C>A)
c.696C>A
c.718C>A (p.Pro240Thr)
c.721C>A (p.Pro241Thr)
c.5-12616C>A (n.5-12616C>A)
c.-43-2046C>A (n.-43-2046C>A)
c.-98-26377C>A (n.-98-26377C>A)
n.296C>A
n.4541C>A
n.4582C>A
 ClinVar dbSNP
17g.43076568A>CCA10592726BRCA1c.4401T>G (p.Asn1467Lys)
c.4404T>G (p.Asn1468Lys)
c.4278T>G (p.Asn1426Lys)
c.4398T>G (p.Asn1466Lys)
c.4326T>G (p.Asn1442Lys)
c.1092T>G (p.Asn364Lys)
c.954T>G (p.Asn318Lys)
c.3516T>G (p.Asn1172Lys)
c.4281T>G (p.Asn1427Lys)
c.4470T>G (p.Asn1490Lys)
c.4263T>G (p.Asn1421Lys)
c.966T>G (p.Asn322Lys)
c.1011T>G (p.Asn337Lys)
c.4467T>G (p.Asn1489Lys)
c.791T>G
c.978T>G (p.Asn326Lys)
c.*4187T>G (n.*4187T>G)
c.695T>G
c.717T>G (p.Asn239Lys)
c.720T>G (p.Asn240Lys)
c.5-12617T>G (n.5-12617T>G)
c.-43-2047T>G (n.-43-2047T>G)
c.-98-26378T>G (n.-98-26378T>G)
n.295T>G
n.4540T>G
n.4581T>G
17g.43076568A>GCA500146830BRCA1c.4401T>C (p.Asn1467=)
c.4404T>C (p.Asn1468=)
c.4278T>C (p.Asn1426=)
c.4398T>C (p.Asn1466=)
c.4326T>C (p.Asn1442=)
c.1092T>C (p.Asn364=)
c.954T>C (p.Asn318=)
c.3516T>C (p.Asn1172=)
c.4281T>C (p.Asn1427=)
c.4470T>C (p.Asn1490=)
c.4263T>C (p.Asn1421=)
c.966T>C (p.Asn322=)
c.1011T>C (p.Asn337=)
c.4467T>C (p.Asn1489=)
c.791T>C
c.978T>C (p.Asn326=)
c.*4187T>C (n.*4187T>C)
c.695T>C
c.717T>C (p.Asn239=)
c.720T>C (p.Asn240=)
c.5-12617T>C (n.5-12617T>C)
c.-43-2047T>C (n.-43-2047T>C)
c.-98-26378T>C (n.-98-26378T>C)
n.295T>C
n.4540T>C
n.4581T>C
17g.43076568A>TCA10592727BRCA1c.4401T>A (p.Asn1467Lys)
c.4404T>A (p.Asn1468Lys)
c.4278T>A (p.Asn1426Lys)
c.4398T>A (p.Asn1466Lys)
c.4326T>A (p.Asn1442Lys)
c.1092T>A (p.Asn364Lys)
c.954T>A (p.Asn318Lys)
c.3516T>A (p.Asn1172Lys)
c.4281T>A (p.Asn1427Lys)
c.4470T>A (p.Asn1490Lys)
c.4263T>A (p.Asn1421Lys)
c.966T>A (p.Asn322Lys)
c.1011T>A (p.Asn337Lys)
c.4467T>A (p.Asn1489Lys)
c.791T>A
c.978T>A (p.Asn326Lys)
c.*4187T>A (n.*4187T>A)
c.695T>A
c.717T>A (p.Asn239Lys)
c.720T>A (p.Asn240Lys)
c.5-12617T>A (n.5-12617T>A)
c.-43-2047T>A (n.-43-2047T>A)
c.-98-26378T>A (n.-98-26378T>A)
n.295T>A
n.4540T>A
n.4581T>A
 dbSNP
17g.43076568dupCA645509050BRCA1c.4401dup (p.Pro1468SerfsTer7)
c.4404dup (p.Pro1469SerfsTer7)
c.4278dup (p.Pro1427SerfsTer7)
c.4398dup (p.Pro1467SerfsTer7)
c.4326dup (p.Pro1443SerfsTer7)
c.1092dup (p.Pro365SerfsTer7)
c.954dup (p.Pro319SerfsTer7)
c.3516dup (p.Pro1173SerfsTer7)
c.4281dup (p.Pro1428SerfsTer7)
c.4470dup (p.Pro1491SerfsTer7)
c.4263dup (p.Pro1422SerfsTer7)
c.966dup (p.Pro323SerfsTer7)
c.1011dup (p.Pro338SerfsTer7)
c.4467dup (p.Pro1490SerfsTer7)
c.791dup
c.978dup (p.Pro327SerfsTer7)
c.*4187dup (n.*4187dup)
c.695dup
c.717dup (p.Pro240SerfsTer7)
c.720dup (p.Pro241SerfsTer7)
c.5-12617dup (n.5-12617dup)
c.-43-2047dup (n.-43-2047dup)
c.-98-26378dup (n.-98-26378dup)
n.295dup
n.4540dup
n.4581dup
17g.43076568_43076581delinsATTCTGGCTTATAGCA2260775512BRCA1c.4388_4401delinsCTATAAGCCAGAAT (p.Pro1463=)
c.4391_4404delinsCTATAAGCCAGAAT (p.Pro1464=)
c.4265_4278delinsCTATAAGCCAGAAT (p.Pro1422=)
c.4385_4398delinsCTATAAGCCAGAAT (p.Pro1462=)
c.4313_4326delinsCTATAAGCCAGAAT (p.Pro1438=)
c.1079_1092delinsCTATAAGCCAGAAT (p.Pro360=)
c.941_954delinsCTATAAGCCAGAAT (p.Pro314=)
c.3503_3516delinsCTATAAGCCAGAAT (p.Pro1168=)
c.4268_4281delinsCTATAAGCCAGAAT (p.Pro1423=)
c.4457_4470delinsCTATAAGCCAGAAT (p.Pro1486=)
c.4250_4263delinsCTATAAGCCAGAAT (p.Pro1417=)
c.953_966delinsCTATAAGCCAGAAT (p.Pro318=)
c.998_1011delinsCTATAAGCCAGAAT (p.Pro333=)
c.4454_4467delinsCTATAAGCCAGAAT (p.Pro1485=)
c.778_791delinsCTATAAGCCAGAAT
c.965_978delinsCTATAAGCCAGAAT (p.Pro322=)
c.*4174_*4187delinsCTATAAGCCAGAAT (n.*4174_*4187delinsCTATAAGCCAGAAT)
c.682_695delinsCTATAAGCCAGAAT
c.704_717delinsCTATAAGCCAGAAT (p.Pro235=)
c.707_720delinsCTATAAGCCAGAAT (p.Pro236=)
c.5-12630_5-12617delinsCTATAAGCCAGAAT (n.5-12630_5-12617delinsCTATAAGCCAGAAT)
c.-43-2060_-43-2047delinsCTATAAGCCAGAAT (n.-43-2060_-43-2047delinsCTATAAGCCAGAAT)
c.-98-26391_-98-26378delinsCTATAAGCCAGAAT (n.-98-26391_-98-26378delinsCTATAAGCCAGAAT)
n.282_295delinsCTATAAGCCAGAAT
n.4527_4540delinsCTATAAGCCAGAAT
n.4568_4581delinsCTATAAGCCAGAAT
17g.43076569T>ACA10592728BRCA1c.4400A>T (p.Asn1467Ile)
c.4403A>T (p.Asn1468Ile)
c.4277A>T (p.Asn1426Ile)
c.4397A>T (p.Asn1466Ile)
c.4325A>T (p.Asn1442Ile)
c.1091A>T (p.Asn364Ile)
c.953A>T (p.Asn318Ile)
c.3515A>T (p.Asn1172Ile)
c.4280A>T (p.Asn1427Ile)
c.4469A>T (p.Asn1490Ile)
c.4262A>T (p.Asn1421Ile)
c.965A>T (p.Asn322Ile)
c.1010A>T (p.Asn337Ile)
c.4466A>T (p.Asn1489Ile)
c.790A>T
c.977A>T (p.Asn326Ile)
c.*4186A>T (n.*4186A>T)
c.694A>T
c.716A>T (p.Asn239Ile)
c.719A>T (p.Asn240Ile)
c.5-12618A>T (n.5-12618A>T)
c.-43-2048A>T (n.-43-2048A>T)
c.-98-26379A>T (n.-98-26379A>T)
n.294A>T
n.4539A>T
n.4580A>T
 dbSNP
17g.43076569T>CCA060213BRCA1c.4400A>G (p.Asn1467Ser)
c.4403A>G (p.Asn1468Ser)
c.4277A>G (p.Asn1426Ser)
c.4397A>G (p.Asn1466Ser)
c.4325A>G (p.Asn1442Ser)
c.1091A>G (p.Asn364Ser)
c.953A>G (p.Asn318Ser)
c.3515A>G (p.Asn1172Ser)
c.4280A>G (p.Asn1427Ser)
c.4469A>G (p.Asn1490Ser)
c.4262A>G (p.Asn1421Ser)
c.965A>G (p.Asn322Ser)
c.1010A>G (p.Asn337Ser)
c.4466A>G (p.Asn1489Ser)
c.790A>G
c.977A>G (p.Asn326Ser)
c.*4186A>G (n.*4186A>G)
c.694A>G
c.716A>G (p.Asn239Ser)
c.719A>G (p.Asn240Ser)
c.5-12618A>G (n.5-12618A>G)
c.-43-2048A>G (n.-43-2048A>G)
c.-98-26379A>G (n.-98-26379A>G)
n.294A>G
n.4539A>G
n.4580A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43076569T>GCA10592729BRCA1c.4400A>C (p.Asn1467Thr)
c.4403A>C (p.Asn1468Thr)
c.4277A>C (p.Asn1426Thr)
c.4397A>C (p.Asn1466Thr)
c.4325A>C (p.Asn1442Thr)
c.1091A>C (p.Asn364Thr)
c.953A>C (p.Asn318Thr)
c.3515A>C (p.Asn1172Thr)
c.4280A>C (p.Asn1427Thr)
c.4469A>C (p.Asn1490Thr)
c.4262A>C (p.Asn1421Thr)
c.965A>C (p.Asn322Thr)
c.1010A>C (p.Asn337Thr)
c.4466A>C (p.Asn1489Thr)
c.790A>C
c.977A>C (p.Asn326Thr)
c.*4186A>C (n.*4186A>C)
c.694A>C
c.716A>C (p.Asn239Thr)
c.719A>C (p.Asn240Thr)
c.5-12618A>C (n.5-12618A>C)
c.-43-2048A>C (n.-43-2048A>C)
c.-98-26379A>C (n.-98-26379A>C)
n.294A>C
n.4539A>C
n.4580A>C
 ClinVar dbSNP
17g.43076569T=CA2260775513BRCA1c.4400A= (p.Asn1467=)
c.4403A= (p.Asn1468=)
c.4277A= (p.Asn1426=)
c.4397A= (p.Asn1466=)
c.4325A= (p.Asn1442=)
c.1091A= (p.Asn364=)
c.953A= (p.Asn318=)
c.3515A= (p.Asn1172=)
c.4280A= (p.Asn1427=)
c.4469A= (p.Asn1490=)
c.4262A= (p.Asn1421=)
c.965A= (p.Asn322=)
c.1010A= (p.Asn337=)
c.4466A= (p.Asn1489=)
c.790A=
c.977A= (p.Asn326=)
c.*4186A= (n.*4186A=)
c.694A=
c.716A= (p.Asn239=)
c.719A= (p.Asn240=)
c.5-12618A= (n.5-12618A=)
c.-43-2048A= (n.-43-2048A=)
c.-98-26379A= (n.-98-26379A=)
n.294A=
n.4539A=
n.4580A=
17g.43076570delCA2499224416BRCA1c.4400del (p.Asn1467IlefsTer?)
c.4403del (p.Asn1468IlefsTer?)
c.4277del (p.Asn1426IlefsTer?)
c.4397del (p.Asn1466IlefsTer?)
c.4325del (p.Asn1442IlefsTer?)
c.1091del (p.Asn364IlefsTer?)
c.953del (p.Asn318IlefsTer?)
c.3515del (p.Asn1172IlefsTer?)
c.4280del (p.Asn1427IlefsTer?)
c.4469del (p.Asn1490IlefsTer?)
c.4262del (p.Asn1421IlefsTer?)
c.965del (p.Asn322IlefsTer?)
c.1010del (p.Asn337IlefsTer?)
c.4466del (p.Asn1489IlefsTer?)
c.790del
c.977del (p.Asn326IlefsTer?)
c.*4186del (n.*4186del)
c.694del
c.716del (p.Asn239IlefsTer?)
c.719del (p.Asn240IlefsTer?)
c.5-12618del (n.5-12618del)
c.-43-2048del (n.-43-2048del)
c.-98-26379del (n.-98-26379del)
n.294del
n.4539del
n.4580del
17g.43076569_43076581delinsAACA002817BRCA1c.4388_4400delinsTT (p.Pro1463LeufsTer8)
c.4391_4403delinsTT (p.Pro1464LeufsTer8)
c.4265_4277delinsTT (p.Pro1422LeufsTer8)
c.4385_4397delinsTT (p.Pro1462LeufsTer8)
c.4313_4325delinsTT (p.Pro1438LeufsTer8)
c.1079_1091delinsTT (p.Pro360LeufsTer8)
c.941_953delinsTT (p.Pro314LeufsTer8)
c.3503_3515delinsTT (p.Pro1168LeufsTer8)
c.4268_4280delinsTT (p.Pro1423LeufsTer8)
c.4457_4469delinsTT (p.Pro1486LeufsTer8)
c.4250_4262delinsTT (p.Pro1417LeufsTer8)
c.953_965delinsTT (p.Pro318LeufsTer8)
c.998_1010delinsTT (p.Pro333LeufsTer8)
c.4454_4466delinsTT (p.Pro1485LeufsTer8)
c.778_790delinsTT
c.965_977delinsTT (p.Pro322LeufsTer8)
c.*4174_*4186delinsTT (n.*4174_*4186delinsTT)
c.682_694delinsTT
c.704_716delinsTT (p.Pro235LeufsTer8)
c.707_719delinsTT (p.Pro236LeufsTer8)
c.5-12630_5-12618delinsTT (n.5-12630_5-12618delinsTT)
c.-43-2060_-43-2048delinsTT (n.-43-2060_-43-2048delinsTT)
c.-98-26391_-98-26379delinsTT (n.-98-26391_-98-26379delinsTT)
n.282_294delinsTT
n.4527_4539delinsTT
n.4568_4580delinsTT
 ClinVar dbSNP
17g.43076570T>ACA10592730BRCA1c.4399A>T (p.Asn1467Tyr)
c.4402A>T (p.Asn1468Tyr)
c.4276A>T (p.Asn1426Tyr)
c.4396A>T (p.Asn1466Tyr)
c.4324A>T (p.Asn1442Tyr)
c.1090A>T (p.Asn364Tyr)
c.952A>T (p.Asn318Tyr)
c.3514A>T (p.Asn1172Tyr)
c.4279A>T (p.Asn1427Tyr)
c.4468A>T (p.Asn1490Tyr)
c.4261A>T (p.Asn1421Tyr)
c.964A>T (p.Asn322Tyr)
c.1009A>T (p.Asn337Tyr)
c.4465A>T (p.Asn1489Tyr)
c.789A>T
c.976A>T (p.Asn326Tyr)
c.*4185A>T (n.*4185A>T)
c.693A>T
c.715A>T (p.Asn239Tyr)
c.718A>T (p.Asn240Tyr)
c.5-12619A>T (n.5-12619A>T)
c.-43-2049A>T (n.-43-2049A>T)
c.-98-26380A>T (n.-98-26380A>T)
n.293A>T
n.4538A>T
n.4579A>T
17g.43076570T>CCA002827BRCA1c.4399A>G (p.Asn1467Asp)
c.4402A>G (p.Asn1468Asp)
c.4276A>G (p.Asn1426Asp)
c.4396A>G (p.Asn1466Asp)
c.4324A>G (p.Asn1442Asp)
c.1090A>G (p.Asn364Asp)
c.952A>G (p.Asn318Asp)
c.3514A>G (p.Asn1172Asp)
c.4279A>G (p.Asn1427Asp)
c.4468A>G (p.Asn1490Asp)
c.4261A>G (p.Asn1421Asp)
c.964A>G (p.Asn322Asp)
c.1009A>G (p.Asn337Asp)
c.4465A>G (p.Asn1489Asp)
c.789A>G
c.976A>G (p.Asn326Asp)
c.*4185A>G (n.*4185A>G)
c.693A>G
c.715A>G (p.Asn239Asp)
c.718A>G (p.Asn240Asp)
c.5-12619A>G (n.5-12619A>G)
c.-43-2049A>G (n.-43-2049A>G)
c.-98-26380A>G (n.-98-26380A>G)
n.293A>G
n.4538A>G
n.4579A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43076570T>GCA002826BRCA1c.4399A>C (p.Asn1467His)
c.4402A>C (p.Asn1468His)
c.4276A>C (p.Asn1426His)
c.4396A>C (p.Asn1466His)
c.4324A>C (p.Asn1442His)
c.1090A>C (p.Asn364His)
c.952A>C (p.Asn318His)
c.3514A>C (p.Asn1172His)
c.4279A>C (p.Asn1427His)
c.4468A>C (p.Asn1490His)
c.4261A>C (p.Asn1421His)
c.964A>C (p.Asn322His)
c.1009A>C (p.Asn337His)
c.4465A>C (p.Asn1489His)
c.789A>C
c.976A>C (p.Asn326His)
c.*4185A>C (n.*4185A>C)
c.693A>C
c.715A>C (p.Asn239His)
c.718A>C (p.Asn240His)
c.5-12619A>C (n.5-12619A>C)
c.-43-2049A>C (n.-43-2049A>C)
c.-98-26380A>C (n.-98-26380A>C)
n.293A>C
n.4538A>C
n.4579A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43076570T=CA2260775514BRCA1c.4399A= (p.Asn1467=)
c.4402A= (p.Asn1468=)
c.4276A= (p.Asn1426=)
c.4396A= (p.Asn1466=)
c.4324A= (p.Asn1442=)
c.1090A= (p.Asn364=)
c.952A= (p.Asn318=)
c.3514A= (p.Asn1172=)
c.4279A= (p.Asn1427=)
c.4468A= (p.Asn1490=)
c.4261A= (p.Asn1421=)
c.964A= (p.Asn322=)
c.1009A= (p.Asn337=)
c.4465A= (p.Asn1489=)
c.789A=
c.976A= (p.Asn326=)
c.*4185A= (n.*4185A=)
c.693A=
c.715A= (p.Asn239=)
c.718A= (p.Asn240=)
c.5-12619A= (n.5-12619A=)
c.-43-2049A= (n.-43-2049A=)
c.-98-26380A= (n.-98-26380A=)
n.293A=
n.4538A=
n.4579A=
17g.43076570_43076571delinsTCCA2260775515BRCA1c.4398_4399delinsGA (p.Gln1466=)
c.4401_4402delinsGA (p.Gln1467=)
c.4275_4276delinsGA (p.Gln1425=)
c.4395_4396delinsGA (p.Gln1465=)
c.4323_4324delinsGA (p.Gln1441=)
c.1089_1090delinsGA (p.Gln363=)
c.951_952delinsGA (p.Gln317=)
c.3513_3514delinsGA (p.Gln1171=)
c.4278_4279delinsGA (p.Gln1426=)
c.4467_4468delinsGA (p.Gln1489=)
c.4260_4261delinsGA (p.Gln1420=)
c.963_964delinsGA (p.Gln321=)
c.1008_1009delinsGA (p.Gln336=)
c.4464_4465delinsGA (p.Gln1488=)
c.788_789delinsGA
c.975_976delinsGA (p.Gln325=)
c.*4184_*4185delinsGA (n.*4184_*4185delinsGA)
c.692_693delinsGA
c.714_715delinsGA (p.Gln238=)
c.717_718delinsGA (p.Gln239=)
c.5-12620_5-12619delinsGA (n.5-12620_5-12619delinsGA)
c.-43-2050_-43-2049delinsGA (n.-43-2050_-43-2049delinsGA)
c.-98-26381_-98-26380delinsGA (n.-98-26381_-98-26380delinsGA)
n.292_293delinsGA
n.4537_4538delinsGA
n.4578_4579delinsGA
17g.43076571delCA002824BRCA1c.4398del (p.Asn1467IlefsTer?)
c.4401del (p.Asn1468IlefsTer?)
c.4275del (p.Asn1426IlefsTer?)
c.4395del (p.Asn1466IlefsTer?)
c.4323del (p.Asn1442IlefsTer?)
c.1089del (p.Asn364IlefsTer?)
c.951del (p.Asn318IlefsTer?)
c.3513del (p.Asn1172IlefsTer?)
c.4278del (p.Asn1427IlefsTer?)
c.4467del (p.Asn1490IlefsTer?)
c.4260del (p.Asn1421IlefsTer?)
c.963del (p.Asn322IlefsTer?)
c.1008del (p.Asn337IlefsTer?)
c.4464del (p.Asn1489IlefsTer?)
c.788del
c.975del (p.Asn326IlefsTer?)
c.*4184del (n.*4184del)
c.692del
c.714del (p.Asn239IlefsTer?)
c.717del (p.Asn240IlefsTer?)
c.5-12620del (n.5-12620del)
c.-43-2050del (n.-43-2050del)
c.-98-26381del (n.-98-26381del)
n.292del
n.4537del
n.4578del
 ClinVar dbSNP
17g.43076571C>ACA10592731BRCA1c.4398G>T (p.Gln1466His)
c.4401G>T (p.Gln1467His)
c.4275G>T (p.Gln1425His)
c.4395G>T (p.Gln1465His)
c.4323G>T (p.Gln1441His)
c.1089G>T (p.Gln363His)
c.951G>T (p.Gln317His)
c.3513G>T (p.Gln1171His)
c.4278G>T (p.Gln1426His)
c.4467G>T (p.Gln1489His)
c.4260G>T (p.Gln1420His)
c.963G>T (p.Gln321His)
c.1008G>T (p.Gln336His)
c.4464G>T (p.Gln1488His)
c.788G>T
c.975G>T (p.Gln325His)
c.*4184G>T (n.*4184G>T)
c.692G>T
c.714G>T (p.Gln238His)
c.717G>T (p.Gln239His)
c.5-12620G>T (n.5-12620G>T)
c.-43-2050G>T (n.-43-2050G>T)
c.-98-26381G>T (n.-98-26381G>T)
n.292G>T
n.4537G>T
n.4578G>T
17g.43076571C>GCA10592732BRCA1c.4398G>C (p.Gln1466His)
c.4401G>C (p.Gln1467His)
c.4275G>C (p.Gln1425His)
c.4395G>C (p.Gln1465His)
c.4323G>C (p.Gln1441His)
c.1089G>C (p.Gln363His)
c.951G>C (p.Gln317His)
c.3513G>C (p.Gln1171His)
c.4278G>C (p.Gln1426His)
c.4467G>C (p.Gln1489His)
c.4260G>C (p.Gln1420His)
c.963G>C (p.Gln321His)
c.1008G>C (p.Gln336His)
c.4464G>C (p.Gln1488His)
c.788G>C
c.975G>C (p.Gln325His)
c.*4184G>C (n.*4184G>C)
c.692G>C
c.714G>C (p.Gln238His)
c.717G>C (p.Gln239His)
c.5-12620G>C (n.5-12620G>C)
c.-43-2050G>C (n.-43-2050G>C)
c.-98-26381G>C (n.-98-26381G>C)
n.292G>C
n.4537G>C
n.4578G>C
 dbSNP
17g.43076571C>TCA500146833BRCA1c.4398G>A (p.Gln1466=)
c.4401G>A (p.Gln1467=)
c.4275G>A (p.Gln1425=)
c.4395G>A (p.Gln1465=)
c.4323G>A (p.Gln1441=)
c.1089G>A (p.Gln363=)
c.951G>A (p.Gln317=)
c.3513G>A (p.Gln1171=)
c.4278G>A (p.Gln1426=)
c.4467G>A (p.Gln1489=)
c.4260G>A (p.Gln1420=)
c.963G>A (p.Gln321=)
c.1008G>A (p.Gln336=)
c.4464G>A (p.Gln1488=)
c.788G>A
c.975G>A (p.Gln325=)
c.*4184G>A (n.*4184G>A)
c.692G>A
c.714G>A (p.Gln238=)
c.717G>A (p.Gln239=)
c.5-12620G>A (n.5-12620G>A)
c.-43-2050G>A (n.-43-2050G>A)
c.-98-26381G>A (n.-98-26381G>A)
n.292G>A
n.4537G>A
n.4578G>A
 ClinVar dbSNP
17g.43076572T>ACA10592733BRCA1c.4397A>T (p.Gln1466Leu)
c.4400A>T (p.Gln1467Leu)
c.4274A>T (p.Gln1425Leu)
c.4394A>T (p.Gln1465Leu)
c.4322A>T (p.Gln1441Leu)
c.1088A>T (p.Gln363Leu)
c.950A>T (p.Gln317Leu)
c.3512A>T (p.Gln1171Leu)
c.4277A>T (p.Gln1426Leu)
c.4466A>T (p.Gln1489Leu)
c.4259A>T (p.Gln1420Leu)
c.962A>T (p.Gln321Leu)
c.1007A>T (p.Gln336Leu)
c.4463A>T (p.Gln1488Leu)
c.787A>T
c.974A>T (p.Gln325Leu)
c.*4183A>T (n.*4183A>T)
c.691A>T
c.713A>T (p.Gln238Leu)
c.716A>T (p.Gln239Leu)
c.5-12621A>T (n.5-12621A>T)
c.-43-2051A>T (n.-43-2051A>T)
c.-98-26382A>T (n.-98-26382A>T)
n.291A>T
n.4536A>T
n.4577A>T
17g.43076572T>CCA10592734BRCA1c.4397A>G (p.Gln1466Arg)
c.4400A>G (p.Gln1467Arg)
c.4274A>G (p.Gln1425Arg)
c.4394A>G (p.Gln1465Arg)
c.4322A>G (p.Gln1441Arg)
c.1088A>G (p.Gln363Arg)
c.950A>G (p.Gln317Arg)
c.3512A>G (p.Gln1171Arg)
c.4277A>G (p.Gln1426Arg)
c.4466A>G (p.Gln1489Arg)
c.4259A>G (p.Gln1420Arg)
c.962A>G (p.Gln321Arg)
c.1007A>G (p.Gln336Arg)
c.4463A>G (p.Gln1488Arg)
c.787A>G
c.974A>G (p.Gln325Arg)
c.*4183A>G (n.*4183A>G)
c.691A>G
c.713A>G (p.Gln238Arg)
c.716A>G (p.Gln239Arg)
c.5-12621A>G (n.5-12621A>G)
c.-43-2051A>G (n.-43-2051A>G)
c.-98-26382A>G (n.-98-26382A>G)
n.291A>G
n.4536A>G
n.4577A>G
 ClinVar
17g.43076572T>GCA10592735BRCA1c.4397A>C (p.Gln1466Pro)
c.4400A>C (p.Gln1467Pro)
c.4274A>C (p.Gln1425Pro)
c.4394A>C (p.Gln1465Pro)
c.4322A>C (p.Gln1441Pro)
c.1088A>C (p.Gln363Pro)
c.950A>C (p.Gln317Pro)
c.3512A>C (p.Gln1171Pro)
c.4277A>C (p.Gln1426Pro)
c.4466A>C (p.Gln1489Pro)
c.4259A>C (p.Gln1420Pro)
c.962A>C (p.Gln321Pro)
c.1007A>C (p.Gln336Pro)
c.4463A>C (p.Gln1488Pro)
c.787A>C
c.974A>C (p.Gln325Pro)
c.*4183A>C (n.*4183A>C)
c.691A>C
c.713A>C (p.Gln238Pro)
c.716A>C (p.Gln239Pro)
c.5-12621A>C (n.5-12621A>C)
c.-43-2051A>C (n.-43-2051A>C)
c.-98-26382A>C (n.-98-26382A>C)
n.291A>C
n.4536A>C
n.4577A>C
17g.43076573G>ACA002821BRCA1c.4396C>T (p.Gln1466Ter)
c.4399C>T (p.Gln1467Ter)
c.4273C>T (p.Gln1425Ter)
c.4393C>T (p.Gln1465Ter)
c.4321C>T (p.Gln1441Ter)
c.1087C>T (p.Gln363Ter)
c.949C>T (p.Gln317Ter)
c.3511C>T (p.Gln1171Ter)
c.4276C>T (p.Gln1426Ter)
c.4465C>T (p.Gln1489Ter)
c.4258C>T (p.Gln1420Ter)
c.961C>T (p.Gln321Ter)
c.1006C>T (p.Gln336Ter)
c.4462C>T (p.Gln1488Ter)
c.786C>T
c.973C>T (p.Gln325Ter)
c.*4182C>T (n.*4182C>T)
c.690C>T
c.712C>T (p.Gln238Ter)
c.715C>T (p.Gln239Ter)
c.5-12622C>T (n.5-12622C>T)
c.-43-2052C>T (n.-43-2052C>T)
c.-98-26383C>T (n.-98-26383C>T)
n.290C>T
n.4535C>T
n.4576C>T
 ClinVar dbSNP COSMIC COSMIC
17g.43076573G>CCA10592736BRCA1c.4396C>G (p.Gln1466Glu)
c.4399C>G (p.Gln1467Glu)
c.4273C>G (p.Gln1425Glu)
c.4393C>G (p.Gln1465Glu)
c.4321C>G (p.Gln1441Glu)
c.1087C>G (p.Gln363Glu)
c.949C>G (p.Gln317Glu)
c.3511C>G (p.Gln1171Glu)
c.4276C>G (p.Gln1426Glu)
c.4465C>G (p.Gln1489Glu)
c.4258C>G (p.Gln1420Glu)
c.961C>G (p.Gln321Glu)
c.1006C>G (p.Gln336Glu)
c.4462C>G (p.Gln1488Glu)
c.786C>G
c.973C>G (p.Gln325Glu)
c.*4182C>G (n.*4182C>G)
c.690C>G
c.712C>G (p.Gln238Glu)
c.715C>G (p.Gln239Glu)
c.5-12622C>G (n.5-12622C>G)
c.-43-2052C>G (n.-43-2052C>G)
c.-98-26383C>G (n.-98-26383C>G)
n.290C>G
n.4535C>G
n.4576C>G
 ClinVar dbSNP
17g.43076573G=CA2260775516BRCA1c.4396C= (p.Gln1466=)
c.4399C= (p.Gln1467=)
c.4273C= (p.Gln1425=)
c.4393C= (p.Gln1465=)
c.4321C= (p.Gln1441=)
c.1087C= (p.Gln363=)
c.949C= (p.Gln317=)
c.3511C= (p.Gln1171=)
c.4276C= (p.Gln1426=)
c.4465C= (p.Gln1489=)
c.4258C= (p.Gln1420=)
c.961C= (p.Gln321=)
c.1006C= (p.Gln336=)
c.4462C= (p.Gln1488=)
c.786C=
c.973C= (p.Gln325=)
c.*4182C= (n.*4182C=)
c.690C=
c.712C= (p.Gln238=)
c.715C= (p.Gln239=)
c.5-12622C= (n.5-12622C=)
c.-43-2052C= (n.-43-2052C=)
c.-98-26383C= (n.-98-26383C=)
n.290C=
n.4535C=
n.4576C=
17g.43076573G>TCA10592737BRCA1c.4396C>A (p.Gln1466Lys)
c.4399C>A (p.Gln1467Lys)
c.4273C>A (p.Gln1425Lys)
c.4393C>A (p.Gln1465Lys)
c.4321C>A (p.Gln1441Lys)
c.1087C>A (p.Gln363Lys)
c.949C>A (p.Gln317Lys)
c.3511C>A (p.Gln1171Lys)
c.4276C>A (p.Gln1426Lys)
c.4465C>A (p.Gln1489Lys)
c.4258C>A (p.Gln1420Lys)
c.961C>A (p.Gln321Lys)
c.1006C>A (p.Gln336Lys)
c.4462C>A (p.Gln1488Lys)
c.786C>A
c.973C>A (p.Gln325Lys)
c.*4182C>A (n.*4182C>A)
c.690C>A
c.712C>A (p.Gln238Lys)
c.715C>A (p.Gln239Lys)
c.5-12622C>A (n.5-12622C>A)
c.-43-2052C>A (n.-43-2052C>A)
c.-98-26383C>A (n.-98-26383C>A)
n.290C>A
n.4535C>A
n.4576C>A
 dbSNP
17g.43076574delCA2638063603BRCA1c.4396del (p.Gln1466ArgfsTer?)
c.4399del (p.Gln1467ArgfsTer?)
c.4273del (p.Gln1425ArgfsTer?)
c.4393del (p.Gln1465ArgfsTer?)
c.4321del (p.Gln1441ArgfsTer?)
c.1087del (p.Gln363ArgfsTer?)
c.949del (p.Gln317ArgfsTer?)
c.3511del (p.Gln1171ArgfsTer?)
c.4276del (p.Gln1426ArgfsTer?)
c.4465del (p.Gln1489ArgfsTer?)
c.4258del (p.Gln1420ArgfsTer?)
c.961del (p.Gln321ArgfsTer?)
c.1006del (p.Gln336ArgfsTer?)
c.4462del (p.Gln1488ArgfsTer?)
c.786del
c.973del (p.Gln325ArgfsTer?)
c.*4182del (n.*4182del)
c.690del
c.712del (p.Gln238ArgfsTer?)
c.715del (p.Gln239ArgfsTer?)
c.5-12622del (n.5-12622del)
c.-43-2052del (n.-43-2052del)
c.-98-26383del (n.-98-26383del)
n.290del
n.4535del
n.4576del
 ClinVar gnomAD v4
17g.43076573_43076574insTCA658825016BRCA1c.4395_4396insA (p.Gln1466ThrfsTer9)
c.4398_4399insA (p.Gln1467ThrfsTer9)
c.4272_4273insA (p.Gln1425ThrfsTer9)
c.4392_4393insA (p.Gln1465ThrfsTer9)
c.4320_4321insA (p.Gln1441ThrfsTer9)
c.1086_1087insA (p.Gln363ThrfsTer9)
c.948_949insA (p.Gln317ThrfsTer9)
c.3510_3511insA (p.Gln1171ThrfsTer9)
c.4275_4276insA (p.Gln1426ThrfsTer9)
c.4464_4465insA (p.Gln1489ThrfsTer9)
c.4257_4258insA (p.Gln1420ThrfsTer9)
c.960_961insA (p.Gln321ThrfsTer9)
c.1005_1006insA (p.Gln336ThrfsTer9)
c.4461_4462insA (p.Gln1488ThrfsTer9)
c.785_786insA
c.972_973insA (p.Gln325ThrfsTer9)
c.*4181_*4182insA (n.*4181_*4182insA)
c.689_690insA
c.711_712insA (p.Gln238ThrfsTer9)
c.714_715insA (p.Gln239ThrfsTer9)
c.5-12623_5-12622insA (n.5-12623_5-12622insA)
c.-43-2053_-43-2052insA (n.-43-2053_-43-2052insA)
c.-98-26384_-98-26383insA (n.-98-26384_-98-26383insA)
n.289_290insA
n.4534_4535insA
n.4575_4576insA
 ClinVar dbSNP
17g.43076574G>ACA500146837BRCA1c.4395C>T (p.Ser1465=)
c.4398C>T (p.Ser1466=)
c.4272C>T (p.Ser1424=)
c.4392C>T (p.Ser1464=)
c.4320C>T (p.Ser1440=)
c.1086C>T (p.Ser362=)
c.948C>T (p.Ser316=)
c.3510C>T (p.Ser1170=)
c.4275C>T (p.Ser1425=)
c.4464C>T (p.Ser1488=)
c.4257C>T (p.Ser1419=)
c.960C>T (p.Ser320=)
c.1005C>T (p.Ser335=)
c.4461C>T (p.Ser1487=)
c.785C>T
c.972C>T (p.Ser324=)
c.*4181C>T (n.*4181C>T)
c.689C>T
c.711C>T (p.Ser237=)
c.714C>T (p.Ser238=)
c.5-12623C>T (n.5-12623C>T)
c.-43-2053C>T (n.-43-2053C>T)
c.-98-26384C>T (n.-98-26384C>T)
n.289C>T
n.4534C>T
n.4575C>T
 dbSNP
17g.43076574G>CCA10592738BRCA1c.4395C>G (p.Ser1465Arg)
c.4398C>G (p.Ser1466Arg)
c.4272C>G (p.Ser1424Arg)
c.4392C>G (p.Ser1464Arg)
c.4320C>G (p.Ser1440Arg)
c.1086C>G (p.Ser362Arg)
c.948C>G (p.Ser316Arg)
c.3510C>G (p.Ser1170Arg)
c.4275C>G (p.Ser1425Arg)
c.4464C>G (p.Ser1488Arg)
c.4257C>G (p.Ser1419Arg)
c.960C>G (p.Ser320Arg)
c.1005C>G (p.Ser335Arg)
c.4461C>G (p.Ser1487Arg)
c.785C>G
c.972C>G (p.Ser324Arg)
c.*4181C>G (n.*4181C>G)
c.689C>G
c.711C>G (p.Ser237Arg)
c.714C>G (p.Ser238Arg)
c.5-12623C>G (n.5-12623C>G)
c.-43-2053C>G (n.-43-2053C>G)
c.-98-26384C>G (n.-98-26384C>G)
n.289C>G
n.4534C>G
n.4575C>G
 dbSNP
17g.43076574G=CA2260775517BRCA1c.4395C= (p.Ser1465=)
c.4398C= (p.Ser1466=)
c.4272C= (p.Ser1424=)
c.4392C= (p.Ser1464=)
c.4320C= (p.Ser1440=)
c.1086C= (p.Ser362=)
c.948C= (p.Ser316=)
c.3510C= (p.Ser1170=)
c.4275C= (p.Ser1425=)
c.4464C= (p.Ser1488=)
c.4257C= (p.Ser1419=)
c.960C= (p.Ser320=)
c.1005C= (p.Ser335=)
c.4461C= (p.Ser1487=)
c.785C=
c.972C= (p.Ser324=)
c.*4181C= (n.*4181C=)
c.689C=
c.711C= (p.Ser237=)
c.714C= (p.Ser238=)
c.5-12623C= (n.5-12623C=)
c.-43-2053C= (n.-43-2053C=)
c.-98-26384C= (n.-98-26384C=)
n.289C=
n.4534C=
n.4575C=
17g.43076574G>TCA10592739BRCA1c.4395C>A (p.Ser1465Arg)
c.4398C>A (p.Ser1466Arg)
c.4272C>A (p.Ser1424Arg)
c.4392C>A (p.Ser1464Arg)
c.4320C>A (p.Ser1440Arg)
c.1086C>A (p.Ser362Arg)
c.948C>A (p.Ser316Arg)
c.3510C>A (p.Ser1170Arg)
c.4275C>A (p.Ser1425Arg)
c.4464C>A (p.Ser1488Arg)
c.4257C>A (p.Ser1419Arg)
c.960C>A (p.Ser320Arg)
c.1005C>A (p.Ser335Arg)
c.4461C>A (p.Ser1487Arg)
c.785C>A
c.972C>A (p.Ser324Arg)
c.*4181C>A (n.*4181C>A)
c.689C>A
c.711C>A (p.Ser237Arg)
c.714C>A (p.Ser238Arg)
c.5-12623C>A (n.5-12623C>A)
c.-43-2053C>A (n.-43-2053C>A)
c.-98-26384C>A (n.-98-26384C>A)
n.289C>A
n.4534C>A
n.4575C>A
 dbSNP
17g.43076574_43076575insTCA10589665BRCA1c.4394_4395insA (p.Ser1465ArgfsTer10)
c.4397_4398insA (p.Ser1466ArgfsTer10)
c.4271_4272insA (p.Ser1424ArgfsTer10)
c.4391_4392insA (p.Ser1464ArgfsTer10)
c.4319_4320insA (p.Ser1440ArgfsTer10)
c.1085_1086insA (p.Ser362ArgfsTer10)
c.947_948insA (p.Ser316ArgfsTer10)
c.3509_3510insA (p.Ser1170ArgfsTer10)
c.4274_4275insA (p.Ser1425ArgfsTer10)
c.4463_4464insA (p.Ser1488ArgfsTer10)
c.4256_4257insA (p.Ser1419ArgfsTer10)
c.959_960insA (p.Ser320ArgfsTer10)
c.1004_1005insA (p.Ser335ArgfsTer10)
c.4460_4461insA (p.Ser1487ArgfsTer10)
c.784_785insA
c.971_972insA (p.Ser324ArgfsTer10)
c.*4180_*4181insA (n.*4180_*4181insA)
c.688_689insA
c.710_711insA (p.Ser237ArgfsTer10)
c.713_714insA (p.Ser238ArgfsTer10)
c.5-12624_5-12623insA (n.5-12624_5-12623insA)
c.-43-2054_-43-2053insA (n.-43-2054_-43-2053insA)
c.-98-26385_-98-26384insA (n.-98-26385_-98-26384insA)
n.288_289insA
n.4533_4534insA
n.4574_4575insA
 ClinVar dbSNP
17g.43076575C>ACA10592740BRCA1c.4394G>T (p.Ser1465Ile)
c.4397G>T (p.Ser1466Ile)
c.4271G>T (p.Ser1424Ile)
c.4391G>T (p.Ser1464Ile)
c.4319G>T (p.Ser1440Ile)
c.1085G>T (p.Ser362Ile)
c.947G>T (p.Ser316Ile)
c.3509G>T (p.Ser1170Ile)
c.4274G>T (p.Ser1425Ile)
c.4463G>T (p.Ser1488Ile)
c.4256G>T (p.Ser1419Ile)
c.959G>T (p.Ser320Ile)
c.1004G>T (p.Ser335Ile)
c.4460G>T (p.Ser1487Ile)
c.784G>T
c.971G>T (p.Ser324Ile)
c.*4180G>T (n.*4180G>T)
c.688G>T
c.710G>T (p.Ser237Ile)
c.713G>T (p.Ser238Ile)
c.5-12624G>T (n.5-12624G>T)
c.-43-2054G>T (n.-43-2054G>T)
c.-98-26385G>T (n.-98-26385G>T)
n.288G>T
n.4533G>T
n.4574G>T
 ClinVar dbSNP
17g.43076575C>GCA10592741BRCA1c.4394G>C (p.Ser1465Thr)
c.4397G>C (p.Ser1466Thr)
c.4271G>C (p.Ser1424Thr)
c.4391G>C (p.Ser1464Thr)
c.4319G>C (p.Ser1440Thr)
c.1085G>C (p.Ser362Thr)
c.947G>C (p.Ser316Thr)
c.3509G>C (p.Ser1170Thr)
c.4274G>C (p.Ser1425Thr)
c.4463G>C (p.Ser1488Thr)
c.4256G>C (p.Ser1419Thr)
c.959G>C (p.Ser320Thr)
c.1004G>C (p.Ser335Thr)
c.4460G>C (p.Ser1487Thr)
c.784G>C
c.971G>C (p.Ser324Thr)
c.*4180G>C (n.*4180G>C)
c.688G>C
c.710G>C (p.Ser237Thr)
c.713G>C (p.Ser238Thr)
c.5-12624G>C (n.5-12624G>C)
c.-43-2054G>C (n.-43-2054G>C)
c.-98-26385G>C (n.-98-26385G>C)
n.288G>C
n.4533G>C
n.4574G>C
17g.43076575C>TCA10592742BRCA1c.4394G>A (p.Ser1465Asn)
c.4397G>A (p.Ser1466Asn)
c.4271G>A (p.Ser1424Asn)
c.4391G>A (p.Ser1464Asn)
c.4319G>A (p.Ser1440Asn)
c.1085G>A (p.Ser362Asn)
c.947G>A (p.Ser316Asn)
c.3509G>A (p.Ser1170Asn)
c.4274G>A (p.Ser1425Asn)
c.4463G>A (p.Ser1488Asn)
c.4256G>A (p.Ser1419Asn)
c.959G>A (p.Ser320Asn)
c.1004G>A (p.Ser335Asn)
c.4460G>A (p.Ser1487Asn)
c.784G>A
c.971G>A (p.Ser324Asn)
c.*4180G>A (n.*4180G>A)
c.688G>A
c.710G>A (p.Ser237Asn)
c.713G>A (p.Ser238Asn)
c.5-12624G>A (n.5-12624G>A)
c.-43-2054G>A (n.-43-2054G>A)
c.-98-26385G>A (n.-98-26385G>A)
n.288G>A
n.4533G>A
n.4574G>A
17g.43076575_43076576delinsCTCA2260775518BRCA1c.4393_4394delinsAG (p.Ser1465=)
c.4396_4397delinsAG (p.Ser1466=)
c.4270_4271delinsAG (p.Ser1424=)
c.4390_4391delinsAG (p.Ser1464=)
c.4318_4319delinsAG (p.Ser1440=)
c.1084_1085delinsAG (p.Ser362=)
c.946_947delinsAG (p.Ser316=)
c.3508_3509delinsAG (p.Ser1170=)
c.4273_4274delinsAG (p.Ser1425=)
c.4462_4463delinsAG (p.Ser1488=)
c.4255_4256delinsAG (p.Ser1419=)
c.958_959delinsAG (p.Ser320=)
c.1003_1004delinsAG (p.Ser335=)
c.4459_4460delinsAG (p.Ser1487=)
c.783_784delinsAG
c.970_971delinsAG (p.Ser324=)
c.*4179_*4180delinsAG (n.*4179_*4180delinsAG)
c.687_688delinsAG
c.709_710delinsAG (p.Ser237=)
c.712_713delinsAG (p.Ser238=)
c.5-12625_5-12624delinsAG (n.5-12625_5-12624delinsAG)
c.-43-2055_-43-2054delinsAG (n.-43-2055_-43-2054delinsAG)
c.-98-26386_-98-26385delinsAG (n.-98-26386_-98-26385delinsAG)
n.287_288delinsAG
n.4532_4533delinsAG
n.4573_4574delinsAG
17g.43076576T>ACA10592743BRCA1c.4393A>T (p.Ser1465Cys)
c.4396A>T (p.Ser1466Cys)
c.4270A>T (p.Ser1424Cys)
c.4390A>T (p.Ser1464Cys)
c.4318A>T (p.Ser1440Cys)
c.1084A>T (p.Ser362Cys)
c.946A>T (p.Ser316Cys)
c.3508A>T (p.Ser1170Cys)
c.4273A>T (p.Ser1425Cys)
c.4462A>T (p.Ser1488Cys)
c.4255A>T (p.Ser1419Cys)
c.958A>T (p.Ser320Cys)
c.1003A>T (p.Ser335Cys)
c.4459A>T (p.Ser1487Cys)
c.783A>T
c.970A>T (p.Ser324Cys)
c.*4179A>T (n.*4179A>T)
c.687A>T
c.709A>T (p.Ser237Cys)
c.712A>T (p.Ser238Cys)
c.5-12625A>T (n.5-12625A>T)
c.-43-2055A>T (n.-43-2055A>T)
c.-98-26386A>T (n.-98-26386A>T)
n.287A>T
n.4532A>T
n.4573A>T
 ClinVar dbSNP gnomAD v4
17g.43076576T>CCA10592744BRCA1c.4393A>G (p.Ser1465Gly)
c.4396A>G (p.Ser1466Gly)
c.4270A>G (p.Ser1424Gly)
c.4390A>G (p.Ser1464Gly)
c.4318A>G (p.Ser1440Gly)
c.1084A>G (p.Ser362Gly)
c.946A>G (p.Ser316Gly)
c.3508A>G (p.Ser1170Gly)
c.4273A>G (p.Ser1425Gly)
c.4462A>G (p.Ser1488Gly)
c.4255A>G (p.Ser1419Gly)
c.958A>G (p.Ser320Gly)
c.1003A>G (p.Ser335Gly)
c.4459A>G (p.Ser1487Gly)
c.783A>G
c.970A>G (p.Ser324Gly)
c.*4179A>G (n.*4179A>G)
c.687A>G
c.709A>G (p.Ser237Gly)
c.712A>G (p.Ser238Gly)
c.5-12625A>G (n.5-12625A>G)
c.-43-2055A>G (n.-43-2055A>G)
c.-98-26386A>G (n.-98-26386A>G)
n.287A>G
n.4532A>G
n.4573A>G
17g.43076576T>GCA10592745BRCA1c.4393A>C (p.Ser1465Arg)
c.4396A>C (p.Ser1466Arg)
c.4270A>C (p.Ser1424Arg)
c.4390A>C (p.Ser1464Arg)
c.4318A>C (p.Ser1440Arg)
c.1084A>C (p.Ser362Arg)
c.946A>C (p.Ser316Arg)
c.3508A>C (p.Ser1170Arg)
c.4273A>C (p.Ser1425Arg)
c.4462A>C (p.Ser1488Arg)
c.4255A>C (p.Ser1419Arg)
c.958A>C (p.Ser320Arg)
c.1003A>C (p.Ser335Arg)
c.4459A>C (p.Ser1487Arg)
c.783A>C
c.970A>C (p.Ser324Arg)
c.*4179A>C (n.*4179A>C)
c.687A>C
c.709A>C (p.Ser237Arg)
c.712A>C (p.Ser238Arg)
c.5-12625A>C (n.5-12625A>C)
c.-43-2055A>C (n.-43-2055A>C)
c.-98-26386A>C (n.-98-26386A>C)
n.287A>C
n.4532A>C
n.4573A>C
 gnomAD v4
17g.43076576T=CA2260775519BRCA1c.4393A= (p.Ser1465=)
c.4396A= (p.Ser1466=)
c.4270A= (p.Ser1424=)
c.4390A= (p.Ser1464=)
c.4318A= (p.Ser1440=)
c.1084A= (p.Ser362=)
c.946A= (p.Ser316=)
c.3508A= (p.Ser1170=)
c.4273A= (p.Ser1425=)
c.4462A= (p.Ser1488=)
c.4255A= (p.Ser1419=)
c.958A= (p.Ser320=)
c.1003A= (p.Ser335=)
c.4459A= (p.Ser1487=)
c.783A=
c.970A= (p.Ser324=)
c.*4179A= (n.*4179A=)
c.687A=
c.709A= (p.Ser237=)
c.712A= (p.Ser238=)
c.5-12625A= (n.5-12625A=)
c.-43-2055A= (n.-43-2055A=)
c.-98-26386A= (n.-98-26386A=)
n.287A=
n.4532A=
n.4573A=
17g.43076577dupCA658684036BRCA1c.4393dup (p.Ser1465LysfsTer10)
c.4396dup (p.Ser1466LysfsTer10)
c.4270dup (p.Ser1424LysfsTer10)
c.4390dup (p.Ser1464LysfsTer10)
c.4318dup (p.Ser1440LysfsTer10)
c.1084dup (p.Ser362LysfsTer10)
c.946dup (p.Ser316LysfsTer10)
c.3508dup (p.Ser1170LysfsTer10)
c.4273dup (p.Ser1425LysfsTer10)
c.4462dup (p.Ser1488LysfsTer10)
c.4255dup (p.Ser1419LysfsTer10)
c.958dup (p.Ser320LysfsTer10)
c.1003dup (p.Ser335LysfsTer10)
c.4459dup (p.Ser1487LysfsTer10)
c.783dup
c.970dup (p.Ser324LysfsTer10)
c.*4179dup (n.*4179dup)
c.687dup
c.709dup (p.Ser237LysfsTer10)
c.712dup (p.Ser238LysfsTer10)
c.5-12625dup (n.5-12625dup)
c.-43-2055dup (n.-43-2055dup)
c.-98-26386dup (n.-98-26386dup)
n.287dup
n.4532dup
n.4573dup
 ClinVar dbSNP
17g.43076577delCA290834171BRCA1c.4393del (p.Ser1465AlafsTer?)
c.4396del (p.Ser1466AlafsTer?)
c.4270del (p.Ser1424AlafsTer?)
c.4390del (p.Ser1464AlafsTer?)
c.4318del (p.Ser1440AlafsTer?)
c.1084del (p.Ser362AlafsTer?)
c.946del (p.Ser316AlafsTer?)
c.3508del (p.Ser1170AlafsTer?)
c.4273del (p.Ser1425AlafsTer?)
c.4462del (p.Ser1488AlafsTer?)
c.4255del (p.Ser1419AlafsTer?)
c.958del (p.Ser320AlafsTer?)
c.1003del (p.Ser335AlafsTer?)
c.4459del (p.Ser1487AlafsTer?)
c.783del
c.970del (p.Ser324AlafsTer?)
c.*4179del (n.*4179del)
c.687del
c.709del (p.Ser237AlafsTer?)
c.712del (p.Ser238AlafsTer?)
c.5-12625del (n.5-12625del)
c.-43-2055del (n.-43-2055del)
c.-98-26386del (n.-98-26386del)
n.287del
n.4532del
n.4573del
 ClinVar dbSNP
17g.43076577T>ACA500146839BRCA1c.4392A>T (p.Ile1464=)
c.4395A>T (p.Ile1465=)
c.4269A>T (p.Ile1423=)
c.4389A>T (p.Ile1463=)
c.4317A>T (p.Ile1439=)
c.1083A>T (p.Ile361=)
c.945A>T (p.Ile315=)
c.3507A>T (p.Ile1169=)
c.4272A>T (p.Ile1424=)
c.4461A>T (p.Ile1487=)
c.4254A>T (p.Ile1418=)
c.957A>T (p.Ile319=)
c.1002A>T (p.Ile334=)
c.4458A>T (p.Ile1486=)
c.782A>T
c.969A>T (p.Ile323=)
c.*4178A>T (n.*4178A>T)
c.686A>T
c.708A>T (p.Ile236=)
c.711A>T (p.Ile237=)
c.5-12626A>T (n.5-12626A>T)
c.-43-2056A>T (n.-43-2056A>T)
c.-98-26387A>T (n.-98-26387A>T)
n.286A>T
n.4531A>T
n.4572A>T
 ClinVar dbSNP
17g.43076577T>CCA10592746BRCA1c.4392A>G (p.Ile1464Met)
c.4395A>G (p.Ile1465Met)
c.4269A>G (p.Ile1423Met)
c.4389A>G (p.Ile1463Met)
c.4317A>G (p.Ile1439Met)
c.1083A>G (p.Ile361Met)
c.945A>G (p.Ile315Met)
c.3507A>G (p.Ile1169Met)
c.4272A>G (p.Ile1424Met)
c.4461A>G (p.Ile1487Met)
c.4254A>G (p.Ile1418Met)
c.957A>G (p.Ile319Met)
c.1002A>G (p.Ile334Met)
c.4458A>G (p.Ile1486Met)
c.782A>G
c.969A>G (p.Ile323Met)
c.*4178A>G (n.*4178A>G)
c.686A>G
c.708A>G (p.Ile236Met)
c.711A>G (p.Ile237Met)
c.5-12626A>G (n.5-12626A>G)
c.-43-2056A>G (n.-43-2056A>G)
c.-98-26387A>G (n.-98-26387A>G)
n.286A>G
n.4531A>G
n.4572A>G
17g.43076577T>GCA500146842BRCA1c.4392A>C (p.Ile1464=)
c.4395A>C (p.Ile1465=)
c.4269A>C (p.Ile1423=)
c.4389A>C (p.Ile1463=)
c.4317A>C (p.Ile1439=)
c.1083A>C (p.Ile361=)
c.945A>C (p.Ile315=)
c.3507A>C (p.Ile1169=)
c.4272A>C (p.Ile1424=)
c.4461A>C (p.Ile1487=)
c.4254A>C (p.Ile1418=)
c.957A>C (p.Ile319=)
c.1002A>C (p.Ile334=)
c.4458A>C (p.Ile1486=)
c.782A>C
c.969A>C (p.Ile323=)
c.*4178A>C (n.*4178A>C)
c.686A>C
c.708A>C (p.Ile236=)
c.711A>C (p.Ile237=)
c.5-12626A>C (n.5-12626A>C)
c.-43-2056A>C (n.-43-2056A>C)
c.-98-26387A>C (n.-98-26387A>C)
n.286A>C
n.4531A>C
n.4572A>C
17g.43076577T=CA2260775520BRCA1c.4392A= (p.Ile1464=)
c.4395A= (p.Ile1465=)
c.4269A= (p.Ile1423=)
c.4389A= (p.Ile1463=)
c.4317A= (p.Ile1439=)
c.1083A= (p.Ile361=)
c.945A= (p.Ile315=)
c.3507A= (p.Ile1169=)
c.4272A= (p.Ile1424=)
c.4461A= (p.Ile1487=)
c.4254A= (p.Ile1418=)
c.957A= (p.Ile319=)
c.1002A= (p.Ile334=)
c.4458A= (p.Ile1486=)
c.782A=
c.969A= (p.Ile323=)
c.*4178A= (n.*4178A=)
c.686A=
c.708A= (p.Ile236=)
c.711A= (p.Ile237=)
c.5-12626A= (n.5-12626A=)
c.-43-2056A= (n.-43-2056A=)
c.-98-26387A= (n.-98-26387A=)
n.286A=
n.4531A=
n.4572A=
17g.43076578A>CCA10592747BRCA1c.4391T>G (p.Ile1464Arg)
c.4394T>G (p.Ile1465Arg)
c.4268T>G (p.Ile1423Arg)
c.4388T>G (p.Ile1463Arg)
c.4316T>G (p.Ile1439Arg)
c.1082T>G (p.Ile361Arg)
c.944T>G (p.Ile315Arg)
c.3506T>G (p.Ile1169Arg)
c.4271T>G (p.Ile1424Arg)
c.4460T>G (p.Ile1487Arg)
c.4253T>G (p.Ile1418Arg)
c.956T>G (p.Ile319Arg)
c.1001T>G (p.Ile334Arg)
c.4457T>G (p.Ile1486Arg)
c.781T>G
c.968T>G (p.Ile323Arg)
c.*4177T>G (n.*4177T>G)
c.685T>G
c.707T>G (p.Ile236Arg)
c.710T>G (p.Ile237Arg)
c.5-12627T>G (n.5-12627T>G)
c.-43-2057T>G (n.-43-2057T>G)
c.-98-26388T>G (n.-98-26388T>G)
n.285T>G
n.4530T>G
n.4571T>G
17g.43076578A>GCA10592748BRCA1c.4391T>C (p.Ile1464Thr)
c.4394T>C (p.Ile1465Thr)
c.4268T>C (p.Ile1423Thr)
c.4388T>C (p.Ile1463Thr)
c.4316T>C (p.Ile1439Thr)
c.1082T>C (p.Ile361Thr)
c.944T>C (p.Ile315Thr)
c.3506T>C (p.Ile1169Thr)
c.4271T>C (p.Ile1424Thr)
c.4460T>C (p.Ile1487Thr)
c.4253T>C (p.Ile1418Thr)
c.956T>C (p.Ile319Thr)
c.1001T>C (p.Ile334Thr)
c.4457T>C (p.Ile1486Thr)
c.781T>C
c.968T>C (p.Ile323Thr)
c.*4177T>C (n.*4177T>C)
c.685T>C
c.707T>C (p.Ile236Thr)
c.710T>C (p.Ile237Thr)
c.5-12627T>C (n.5-12627T>C)
c.-43-2057T>C (n.-43-2057T>C)
c.-98-26388T>C (n.-98-26388T>C)
n.285T>C
n.4530T>C
n.4571T>C
 dbSNP
17g.43076578A>TCA10592749BRCA1c.4391T>A (p.Ile1464Lys)
c.4394T>A (p.Ile1465Lys)
c.4268T>A (p.Ile1423Lys)
c.4388T>A (p.Ile1463Lys)
c.4316T>A (p.Ile1439Lys)
c.1082T>A (p.Ile361Lys)
c.944T>A (p.Ile315Lys)
c.3506T>A (p.Ile1169Lys)
c.4271T>A (p.Ile1424Lys)
c.4460T>A (p.Ile1487Lys)
c.4253T>A (p.Ile1418Lys)
c.956T>A (p.Ile319Lys)
c.1001T>A (p.Ile334Lys)
c.4457T>A (p.Ile1486Lys)
c.781T>A
c.968T>A (p.Ile323Lys)
c.*4177T>A (n.*4177T>A)
c.685T>A
c.707T>A (p.Ile236Lys)
c.710T>A (p.Ile237Lys)
c.5-12627T>A (n.5-12627T>A)
c.-43-2057T>A (n.-43-2057T>A)
c.-98-26388T>A (n.-98-26388T>A)
n.285T>A
n.4530T>A
n.4571T>A
 ClinVar dbSNP
17g.43076578dupCA645373166BRCA1c.4391dup (p.Ser1465LysfsTer10)
c.4394dup (p.Ser1466LysfsTer10)
c.4268dup (p.Ser1424LysfsTer10)
c.4388dup (p.Ser1464LysfsTer10)
c.4316dup (p.Ser1440LysfsTer10)
c.1082dup (p.Ser362LysfsTer10)
c.944dup (p.Ser316LysfsTer10)
c.3506dup (p.Ser1170LysfsTer10)
c.4271dup (p.Ser1425LysfsTer10)
c.4460dup (p.Ser1488LysfsTer10)
c.4253dup (p.Ser1419LysfsTer10)
c.956dup (p.Ser320LysfsTer10)
c.1001dup (p.Ser335LysfsTer10)
c.4457dup (p.Ser1487LysfsTer10)
c.781dup
c.968dup (p.Ser324LysfsTer10)
c.*4177dup (n.*4177dup)
c.685dup
c.707dup (p.Ser237LysfsTer10)
c.710dup (p.Ser238LysfsTer10)
c.5-12627dup (n.5-12627dup)
c.-43-2057dup (n.-43-2057dup)
c.-98-26388dup (n.-98-26388dup)
n.285dup
n.4530dup
n.4571dup
 ClinVar dbSNP
17g.43076578_43076579delinsATCA2260775522BRCA1c.4390_4391delinsAT (p.Ile1464=)
c.4393_4394delinsAT (p.Ile1465=)
c.4267_4268delinsAT (p.Ile1423=)
c.4387_4388delinsAT (p.Ile1463=)
c.4315_4316delinsAT (p.Ile1439=)
c.1081_1082delinsAT (p.Ile361=)
c.943_944delinsAT (p.Ile315=)
c.3505_3506delinsAT (p.Ile1169=)
c.4270_4271delinsAT (p.Ile1424=)
c.4459_4460delinsAT (p.Ile1487=)
c.4252_4253delinsAT (p.Ile1418=)
c.955_956delinsAT (p.Ile319=)
c.1000_1001delinsAT (p.Ile334=)
c.4456_4457delinsAT (p.Ile1486=)
c.780_781delinsAT
c.967_968delinsAT (p.Ile323=)
c.*4176_*4177delinsAT (n.*4176_*4177delinsAT)
c.684_685delinsAT
c.706_707delinsAT (p.Ile236=)
c.709_710delinsAT (p.Ile237=)
c.5-12628_5-12627delinsAT (n.5-12628_5-12627delinsAT)
c.-43-2058_-43-2057delinsAT (n.-43-2058_-43-2057delinsAT)
c.-98-26389_-98-26388delinsAT (n.-98-26389_-98-26388delinsAT)
n.284_285delinsAT
n.4529_4530delinsAT
n.4570_4571delinsAT
17g.43076578_43076581delinsATAGCA2260775521BRCA1c.4388_4391delinsCTAT (p.Pro1463=)
c.4391_4394delinsCTAT (p.Pro1464=)
c.4265_4268delinsCTAT (p.Pro1422=)
c.4385_4388delinsCTAT (p.Pro1462=)
c.4313_4316delinsCTAT (p.Pro1438=)
c.1079_1082delinsCTAT (p.Pro360=)
c.941_944delinsCTAT (p.Pro314=)
c.3503_3506delinsCTAT (p.Pro1168=)
c.4268_4271delinsCTAT (p.Pro1423=)
c.4457_4460delinsCTAT (p.Pro1486=)
c.4250_4253delinsCTAT (p.Pro1417=)
c.953_956delinsCTAT (p.Pro318=)
c.998_1001delinsCTAT (p.Pro333=)
c.4454_4457delinsCTAT (p.Pro1485=)
c.778_781delinsCTAT
c.965_968delinsCTAT (p.Pro322=)
c.*4174_*4177delinsCTAT (n.*4174_*4177delinsCTAT)
c.682_685delinsCTAT
c.704_707delinsCTAT (p.Pro235=)
c.707_710delinsCTAT (p.Pro236=)
c.5-12630_5-12627delinsCTAT (n.5-12630_5-12627delinsCTAT)
c.-43-2060_-43-2057delinsCTAT (n.-43-2060_-43-2057delinsCTAT)
c.-98-26391_-98-26388delinsCTAT (n.-98-26391_-98-26388delinsCTAT)
n.282_285delinsCTAT
n.4527_4530delinsCTAT
n.4568_4571delinsCTAT
17g.43076579delCA002820BRCA1c.4390del (p.Ile1464Ter)
c.4393del (p.Ile1465Ter)
c.4267del (p.Ile1423Ter)
c.4387del (p.Ile1463Ter)
c.4315del (p.Ile1439Ter)
c.1081del (p.Ile361Ter)
c.943del (p.Ile315Ter)
c.3505del (p.Ile1169Ter)
c.4270del (p.Ile1424Ter)
c.4459del (p.Ile1487Ter)
c.4252del (p.Ile1418Ter)
c.955del (p.Ile319Ter)
c.1000del (p.Ile334Ter)
c.4456del (p.Ile1486Ter)
c.780del
c.967del (p.Ile323Ter)
c.*4176del (n.*4176del)
c.684del
c.706del (p.Ile236Ter)
c.709del (p.Ile237Ter)
c.5-12628del (n.5-12628del)
c.-43-2058del (n.-43-2058del)
c.-98-26389del (n.-98-26389del)
n.284del
n.4529del
n.4570del
 ClinVar dbSNP
17g.43076579T>ACA10592750BRCA1c.4390A>T (p.Ile1464Leu)
c.4393A>T (p.Ile1465Leu)
c.4267A>T (p.Ile1423Leu)
c.4387A>T (p.Ile1463Leu)
c.4315A>T (p.Ile1439Leu)
c.1081A>T (p.Ile361Leu)
c.943A>T (p.Ile315Leu)
c.3505A>T (p.Ile1169Leu)
c.4270A>T (p.Ile1424Leu)
c.4459A>T (p.Ile1487Leu)
c.4252A>T (p.Ile1418Leu)
c.955A>T (p.Ile319Leu)
c.1000A>T (p.Ile334Leu)
c.4456A>T (p.Ile1486Leu)
c.780A>T
c.967A>T (p.Ile323Leu)
c.*4176A>T (n.*4176A>T)
c.684A>T
c.706A>T (p.Ile236Leu)
c.709A>T (p.Ile237Leu)
c.5-12628A>T (n.5-12628A>T)
c.-43-2058A>T (n.-43-2058A>T)
c.-98-26389A>T (n.-98-26389A>T)
n.284A>T
n.4529A>T
n.4570A>T
 dbSNP
17g.43076579T>CCA10592751BRCA1c.4390A>G (p.Ile1464Val)
c.4393A>G (p.Ile1465Val)
c.4267A>G (p.Ile1423Val)
c.4387A>G (p.Ile1463Val)
c.4315A>G (p.Ile1439Val)
c.1081A>G (p.Ile361Val)
c.943A>G (p.Ile315Val)
c.3505A>G (p.Ile1169Val)
c.4270A>G (p.Ile1424Val)
c.4459A>G (p.Ile1487Val)
c.4252A>G (p.Ile1418Val)
c.955A>G (p.Ile319Val)
c.1000A>G (p.Ile334Val)
c.4456A>G (p.Ile1486Val)
c.780A>G
c.967A>G (p.Ile323Val)
c.*4176A>G (n.*4176A>G)
c.684A>G
c.706A>G (p.Ile236Val)
c.709A>G (p.Ile237Val)
c.5-12628A>G (n.5-12628A>G)
c.-43-2058A>G (n.-43-2058A>G)
c.-98-26389A>G (n.-98-26389A>G)
n.284A>G
n.4529A>G
n.4570A>G
 ClinVar dbSNP gnomAD v4
17g.43076579T>GCA10592752BRCA1c.4390A>C (p.Ile1464Leu)
c.4393A>C (p.Ile1465Leu)
c.4267A>C (p.Ile1423Leu)
c.4387A>C (p.Ile1463Leu)
c.4315A>C (p.Ile1439Leu)
c.1081A>C (p.Ile361Leu)
c.943A>C (p.Ile315Leu)
c.3505A>C (p.Ile1169Leu)
c.4270A>C (p.Ile1424Leu)
c.4459A>C (p.Ile1487Leu)
c.4252A>C (p.Ile1418Leu)
c.955A>C (p.Ile319Leu)
c.1000A>C (p.Ile334Leu)
c.4456A>C (p.Ile1486Leu)
c.780A>C
c.967A>C (p.Ile323Leu)
c.*4176A>C (n.*4176A>C)
c.684A>C
c.706A>C (p.Ile236Leu)
c.709A>C (p.Ile237Leu)
c.5-12628A>C (n.5-12628A>C)
c.-43-2058A>C (n.-43-2058A>C)
c.-98-26389A>C (n.-98-26389A>C)
n.284A>C
n.4529A>C
n.4570A>C
 ClinVar dbSNP
17g.43076579T=CA2260775523BRCA1c.4390A= (p.Ile1464=)
c.4393A= (p.Ile1465=)
c.4267A= (p.Ile1423=)
c.4387A= (p.Ile1463=)
c.4315A= (p.Ile1439=)
c.1081A= (p.Ile361=)
c.943A= (p.Ile315=)
c.3505A= (p.Ile1169=)
c.4270A= (p.Ile1424=)
c.4459A= (p.Ile1487=)
c.4252A= (p.Ile1418=)
c.955A= (p.Ile319=)
c.1000A= (p.Ile334=)
c.4456A= (p.Ile1486=)
c.780A=
c.967A= (p.Ile323=)
c.*4176A= (n.*4176A=)
c.684A=
c.706A= (p.Ile236=)
c.709A= (p.Ile237=)
c.5-12628A= (n.5-12628A=)
c.-43-2058A= (n.-43-2058A=)
c.-98-26389A= (n.-98-26389A=)
n.284A=
n.4529A=
n.4570A=
17g.43076579_43076580delinsTACA2260775524BRCA1c.4389_4390delinsTA (p.Pro1463=)
c.4392_4393delinsTA (p.Pro1464=)
c.4266_4267delinsTA (p.Pro1422=)
c.4386_4387delinsTA (p.Pro1462=)
c.4314_4315delinsTA (p.Pro1438=)
c.1080_1081delinsTA (p.Pro360=)
c.942_943delinsTA (p.Pro314=)
c.3504_3505delinsTA (p.Pro1168=)
c.4269_4270delinsTA (p.Pro1423=)
c.4458_4459delinsTA (p.Pro1486=)
c.4251_4252delinsTA (p.Pro1417=)
c.954_955delinsTA (p.Pro318=)
c.999_1000delinsTA (p.Pro333=)
c.4455_4456delinsTA (p.Pro1485=)
c.779_780delinsTA
c.966_967delinsTA (p.Pro322=)
c.*4175_*4176delinsTA (n.*4175_*4176delinsTA)
c.683_684delinsTA
c.705_706delinsTA (p.Pro235=)
c.708_709delinsTA (p.Pro236=)
c.5-12629_5-12628delinsTA (n.5-12629_5-12628delinsTA)
c.-43-2059_-43-2058delinsTA (n.-43-2059_-43-2058delinsTA)
c.-98-26390_-98-26389delinsTA (n.-98-26390_-98-26389delinsTA)
n.283_284delinsTA
n.4528_4529delinsTA
n.4569_4570delinsTA
17g.43076579_43076581delinsAACA002815BRCA1c.4388_4390delinsTT (p.Pro1463LeufsTer2)
c.4391_4393delinsTT (p.Pro1464LeufsTer2)
c.4265_4267delinsTT (p.Pro1422LeufsTer2)
c.4385_4387delinsTT (p.Pro1462LeufsTer2)
c.4313_4315delinsTT (p.Pro1438LeufsTer2)
c.1079_1081delinsTT (p.Pro360LeufsTer2)
c.941_943delinsTT (p.Pro314LeufsTer2)
c.3503_3505delinsTT (p.Pro1168LeufsTer2)
c.4268_4270delinsTT (p.Pro1423LeufsTer2)
c.4457_4459delinsTT (p.Pro1486LeufsTer2)
c.4250_4252delinsTT (p.Pro1417LeufsTer2)
c.953_955delinsTT (p.Pro318LeufsTer2)
c.998_1000delinsTT (p.Pro333LeufsTer2)
c.4454_4456delinsTT (p.Pro1485LeufsTer2)
c.778_780delinsTT
c.965_967delinsTT (p.Pro322LeufsTer2)
c.*4174_*4176delinsTT (n.*4174_*4176delinsTT)
c.682_684delinsTT
c.704_706delinsTT (p.Pro235LeufsTer2)
c.707_709delinsTT (p.Pro236LeufsTer2)
c.5-12630_5-12628delinsTT (n.5-12630_5-12628delinsTT)
c.-43-2060_-43-2058delinsTT (n.-43-2060_-43-2058delinsTT)
c.-98-26391_-98-26389delinsTT (n.-98-26391_-98-26389delinsTT)
n.282_284delinsTT
n.4527_4529delinsTT
n.4568_4570delinsTT
 ClinVar dbSNP
17g.43076580delCA16620425BRCA1c.4389del (p.Ile1464Ter)
c.4392del (p.Ile1465Ter)
c.4266del (p.Ile1423Ter)
c.4386del (p.Ile1463Ter)
c.4314del (p.Ile1439Ter)
c.1080del (p.Ile361Ter)
c.942del (p.Ile315Ter)
c.3504del (p.Ile1169Ter)
c.4269del (p.Ile1424Ter)
c.4458del (p.Ile1487Ter)
c.4251del (p.Ile1418Ter)
c.954del (p.Ile319Ter)
c.999del (p.Ile334Ter)
c.4455del (p.Ile1486Ter)
c.779del
c.966del (p.Ile323Ter)
c.*4175del (n.*4175del)
c.683del
c.705del (p.Ile236Ter)
c.708del (p.Ile237Ter)
c.5-12629del (n.5-12629del)
c.-43-2059del (n.-43-2059del)
c.-98-26390del (n.-98-26390del)
n.283del
n.4528del
n.4569del
 ClinVar dbSNP
17g.43076580A=CA2260775525BRCA1c.4389T= (p.Pro1463=)
c.4392T= (p.Pro1464=)
c.4266T= (p.Pro1422=)
c.4386T= (p.Pro1462=)
c.4314T= (p.Pro1438=)
c.1080T= (p.Pro360=)
c.942T= (p.Pro314=)
c.3504T= (p.Pro1168=)
c.4269T= (p.Pro1423=)
c.4458T= (p.Pro1486=)
c.4251T= (p.Pro1417=)
c.954T= (p.Pro318=)
c.999T= (p.Pro333=)
c.4455T= (p.Pro1485=)
c.779T=
c.966T= (p.Pro322=)
c.*4175T= (n.*4175T=)
c.683T=
c.705T= (p.Pro235=)
c.708T= (p.Pro236=)
c.5-12629T= (n.5-12629T=)
c.-43-2059T= (n.-43-2059T=)
c.-98-26390T= (n.-98-26390T=)
n.283T=
n.4528T=
n.4569T=
17g.43076580A>CCA500146847BRCA1c.4389T>G (p.Pro1463=)
c.4392T>G (p.Pro1464=)
c.4266T>G (p.Pro1422=)
c.4386T>G (p.Pro1462=)
c.4314T>G (p.Pro1438=)
c.1080T>G (p.Pro360=)
c.942T>G (p.Pro314=)
c.3504T>G (p.Pro1168=)
c.4269T>G (p.Pro1423=)
c.4458T>G (p.Pro1486=)
c.4251T>G (p.Pro1417=)
c.954T>G (p.Pro318=)
c.999T>G (p.Pro333=)
c.4455T>G (p.Pro1485=)
c.779T>G
c.966T>G (p.Pro322=)
c.*4175T>G (n.*4175T>G)
c.683T>G
c.705T>G (p.Pro235=)
c.708T>G (p.Pro236=)
c.5-12629T>G (n.5-12629T>G)
c.-43-2059T>G (n.-43-2059T>G)
c.-98-26390T>G (n.-98-26390T>G)
n.283T>G
n.4528T>G
n.4569T>G
 ClinVar
17g.43076580A>GCA500146848BRCA1c.4389T>C (p.Pro1463=)
c.4392T>C (p.Pro1464=)
c.4266T>C (p.Pro1422=)
c.4386T>C (p.Pro1462=)
c.4314T>C (p.Pro1438=)
c.1080T>C (p.Pro360=)
c.942T>C (p.Pro314=)
c.3504T>C (p.Pro1168=)
c.4269T>C (p.Pro1423=)
c.4458T>C (p.Pro1486=)
c.4251T>C (p.Pro1417=)
c.954T>C (p.Pro318=)
c.999T>C (p.Pro333=)
c.4455T>C (p.Pro1485=)
c.779T>C
c.966T>C (p.Pro322=)
c.*4175T>C (n.*4175T>C)
c.683T>C
c.705T>C (p.Pro235=)
c.708T>C (p.Pro236=)
c.5-12629T>C (n.5-12629T>C)
c.-43-2059T>C (n.-43-2059T>C)
c.-98-26390T>C (n.-98-26390T>C)
n.283T>C
n.4528T>C
n.4569T>C
 dbSNP
17g.43076580A>TCA002819BRCA1c.4389T>A (p.Pro1463=)
c.4392T>A (p.Pro1464=)
c.4266T>A (p.Pro1422=)
c.4386T>A (p.Pro1462=)
c.4314T>A (p.Pro1438=)
c.1080T>A (p.Pro360=)
c.942T>A (p.Pro314=)
c.3504T>A (p.Pro1168=)
c.4269T>A (p.Pro1423=)
c.4458T>A (p.Pro1486=)
c.4251T>A (p.Pro1417=)
c.954T>A (p.Pro318=)
c.999T>A (p.Pro333=)
c.4455T>A (p.Pro1485=)
c.779T>A
c.966T>A (p.Pro322=)
c.*4175T>A (n.*4175T>A)
c.683T>A
c.705T>A (p.Pro235=)
c.708T>A (p.Pro236=)
c.5-12629T>A (n.5-12629T>A)
c.-43-2059T>A (n.-43-2059T>A)
c.-98-26390T>A (n.-98-26390T>A)
n.283T>A
n.4528T>A
n.4569T>A
 ClinVar dbSNP gnomAD v4
17g.43076580_43076581delinsAGCA2260775526BRCA1c.4388_4389delinsCT (p.Pro1463=)
c.4391_4392delinsCT (p.Pro1464=)
c.4265_4266delinsCT (p.Pro1422=)
c.4385_4386delinsCT (p.Pro1462=)
c.4313_4314delinsCT (p.Pro1438=)
c.1079_1080delinsCT (p.Pro360=)
c.941_942delinsCT (p.Pro314=)
c.3503_3504delinsCT (p.Pro1168=)
c.4268_4269delinsCT (p.Pro1423=)
c.4457_4458delinsCT (p.Pro1486=)
c.4250_4251delinsCT (p.Pro1417=)
c.953_954delinsCT (p.Pro318=)
c.998_999delinsCT (p.Pro333=)
c.4454_4455delinsCT (p.Pro1485=)
c.778_779delinsCT
c.965_966delinsCT (p.Pro322=)
c.*4174_*4175delinsCT (n.*4174_*4175delinsCT)
c.682_683delinsCT
c.704_705delinsCT (p.Pro235=)
c.707_708delinsCT (p.Pro236=)
c.5-12630_5-12629delinsCT (n.5-12630_5-12629delinsCT)
c.-43-2060_-43-2059delinsCT (n.-43-2060_-43-2059delinsCT)
c.-98-26391_-98-26390delinsCT (n.-98-26391_-98-26390delinsCT)
n.282_283delinsCT
n.4527_4528delinsCT
n.4568_4569delinsCT
17g.43076580_43076583dupCA10585914BRCA1c.4386_4389dup (p.Ile1464ProfsTer12)
c.4389_4392dup (p.Ile1465ProfsTer12)
c.4263_4266dup (p.Ile1423ProfsTer12)
c.4383_4386dup (p.Ile1463ProfsTer12)
c.4311_4314dup (p.Ile1439ProfsTer12)
c.1077_1080dup (p.Ile361ProfsTer12)
c.939_942dup (p.Ile315ProfsTer12)
c.3501_3504dup (p.Ile1169ProfsTer12)
c.4266_4269dup (p.Ile1424ProfsTer12)
c.4455_4458dup (p.Ile1487ProfsTer12)
c.4248_4251dup (p.Ile1418ProfsTer12)
c.951_954dup (p.Ile319ProfsTer12)
c.996_999dup (p.Ile334ProfsTer12)
c.4452_4455dup (p.Ile1486ProfsTer12)
c.776_779dup
c.963_966dup (p.Ile323ProfsTer12)
c.*4172_*4175dup (n.*4172_*4175dup)
c.680_683dup
c.702_705dup (p.Ile236ProfsTer12)
c.705_708dup (p.Ile237ProfsTer12)
c.5-12632_5-12629dup (n.5-12632_5-12629dup)
c.-43-2062_-43-2059dup (n.-43-2062_-43-2059dup)
c.-98-26393_-98-26390dup (n.-98-26393_-98-26390dup)
n.280_283dup
n.4525_4528dup
n.4566_4569dup
 ClinVar dbSNP
17g.43076580_43076593delinsTGGGTATTCACTATCA2695225926BRCA1c.4376_4389delinsATAGTGAATACCCA (p.Ser1459Asn)
c.4379_4392delinsATAGTGAATACCCA (p.Ser1460Asn)
c.4253_4266delinsATAGTGAATACCCA (p.Ser1418Asn)
c.4373_4386delinsATAGTGAATACCCA (p.Ser1458Asn)
c.4301_4314delinsATAGTGAATACCCA (p.Ser1434Asn)
c.1067_1080delinsATAGTGAATACCCA (p.Ser356Asn)
c.929_942delinsATAGTGAATACCCA (p.Ser310Asn)
c.3491_3504delinsATAGTGAATACCCA (p.Ser1164Asn)
c.4256_4269delinsATAGTGAATACCCA (p.Ser1419Asn)
c.4445_4458delinsATAGTGAATACCCA (p.Ser1482Asn)
c.4238_4251delinsATAGTGAATACCCA (p.Ser1413Asn)
c.941_954delinsATAGTGAATACCCA (p.Ser314Asn)
c.986_999delinsATAGTGAATACCCA (p.Ser329Asn)
c.4442_4455delinsATAGTGAATACCCA (p.Ser1481Asn)
c.766_779delinsATAGTGAATACCCA
c.953_966delinsATAGTGAATACCCA (p.Ser318Asn)
c.*4162_*4175delinsATAGTGAATACCCA (n.*4162_*4175delinsATAGTGAATACCCA)
c.670_683delinsATAGTGAATACCCA
c.692_705delinsATAGTGAATACCCA (p.Ser231Asn)
c.695_708delinsATAGTGAATACCCA (p.Ser232Asn)
c.5-12642_5-12629delinsATAGTGAATACCCA (n.5-12642_5-12629delinsATAGTGAATACCCA)
c.-43-2072_-43-2059delinsATAGTGAATACCCA (n.-43-2072_-43-2059delinsATAGTGAATACCCA)
c.-98-26403_-98-26390delinsATAGTGAATACCCA (n.-98-26403_-98-26390delinsATAGTGAATACCCA)
n.270_283delinsATAGTGAATACCCA
n.4515_4528delinsATAGTGAATACCCA
n.4556_4569delinsATAGTGAATACCCA
17g.43076581G>ACA10592753BRCA1c.4388C>T (p.Pro1463Leu)
c.4391C>T (p.Pro1464Leu)
c.4265C>T (p.Pro1422Leu)
c.4385C>T (p.Pro1462Leu)
c.4313C>T (p.Pro1438Leu)
c.1079C>T (p.Pro360Leu)
c.941C>T (p.Pro314Leu)
c.3503C>T (p.Pro1168Leu)
c.4268C>T (p.Pro1423Leu)
c.4457C>T (p.Pro1486Leu)
c.4250C>T (p.Pro1417Leu)
c.953C>T (p.Pro318Leu)
c.998C>T (p.Pro333Leu)
c.4454C>T (p.Pro1485Leu)
c.778C>T
c.965C>T (p.Pro322Leu)
c.*4174C>T (n.*4174C>T)
c.682C>T
c.704C>T (p.Pro235Leu)
c.707C>T (p.Pro236Leu)
c.5-12630C>T (n.5-12630C>T)
c.-43-2060C>T (n.-43-2060C>T)
c.-98-26391C>T (n.-98-26391C>T)
n.282C>T
n.4527C>T
n.4568C>T
 ClinVar dbSNP gnomAD v4
17g.43076581G>CCA10592754BRCA1c.4388C>G (p.Pro1463Arg)
c.4391C>G (p.Pro1464Arg)
c.4265C>G (p.Pro1422Arg)
c.4385C>G (p.Pro1462Arg)
c.4313C>G (p.Pro1438Arg)
c.1079C>G (p.Pro360Arg)
c.941C>G (p.Pro314Arg)
c.3503C>G (p.Pro1168Arg)
c.4268C>G (p.Pro1423Arg)
c.4457C>G (p.Pro1486Arg)
c.4250C>G (p.Pro1417Arg)
c.953C>G (p.Pro318Arg)
c.998C>G (p.Pro333Arg)
c.4454C>G (p.Pro1485Arg)
c.778C>G
c.965C>G (p.Pro322Arg)
c.*4174C>G (n.*4174C>G)
c.682C>G
c.704C>G (p.Pro235Arg)
c.707C>G (p.Pro236Arg)
c.5-12630C>G (n.5-12630C>G)
c.-43-2060C>G (n.-43-2060C>G)
c.-98-26391C>G (n.-98-26391C>G)
n.282C>G
n.4527C>G
n.4568C>G
 ClinVar dbSNP
17g.43076581G=CA2260775527BRCA1c.4388C= (p.Pro1463=)
c.4391C= (p.Pro1464=)
c.4265C= (p.Pro1422=)
c.4385C= (p.Pro1462=)
c.4313C= (p.Pro1438=)
c.1079C= (p.Pro360=)
c.941C= (p.Pro314=)
c.3503C= (p.Pro1168=)
c.4268C= (p.Pro1423=)
c.4457C= (p.Pro1486=)
c.4250C= (p.Pro1417=)
c.953C= (p.Pro318=)
c.998C= (p.Pro333=)
c.4454C= (p.Pro1485=)
c.778C=
c.965C= (p.Pro322=)
c.*4174C= (n.*4174C=)
c.682C=
c.704C= (p.Pro235=)
c.707C= (p.Pro236=)
c.5-12630C= (n.5-12630C=)
c.-43-2060C= (n.-43-2060C=)
c.-98-26391C= (n.-98-26391C=)
n.282C=
n.4527C=
n.4568C=
17g.43076581G>TCA10592755BRCA1c.4388C>A (p.Pro1463His)
c.4391C>A (p.Pro1464His)
c.4265C>A (p.Pro1422His)
c.4385C>A (p.Pro1462His)
c.4313C>A (p.Pro1438His)
c.1079C>A (p.Pro360His)
c.941C>A (p.Pro314His)
c.3503C>A (p.Pro1168His)
c.4268C>A (p.Pro1423His)
c.4457C>A (p.Pro1486His)
c.4250C>A (p.Pro1417His)
c.953C>A (p.Pro318His)
c.998C>A (p.Pro333His)
c.4454C>A (p.Pro1485His)
c.778C>A
c.965C>A (p.Pro322His)
c.*4174C>A (n.*4174C>A)
c.682C>A
c.704C>A (p.Pro235His)
c.707C>A (p.Pro236His)
c.5-12630C>A (n.5-12630C>A)
c.-43-2060C>A (n.-43-2060C>A)
c.-98-26391C>A (n.-98-26391C>A)
n.282C>A
n.4527C>A
n.4568C>A
 dbSNP
17g.43076583dupCA327931BRCA1c.4388dup (p.Ile1464TyrfsTer11)
c.4391dup (p.Ile1465TyrfsTer11)
c.4265dup (p.Ile1423TyrfsTer11)
c.4385dup (p.Ile1463TyrfsTer11)
c.4313dup (p.Ile1439TyrfsTer11)
c.1079dup (p.Ile361TyrfsTer11)
c.941dup (p.Ile315TyrfsTer11)
c.3503dup (p.Ile1169TyrfsTer11)
c.4268dup (p.Ile1424TyrfsTer11)
c.4457dup (p.Ile1487TyrfsTer11)
c.4250dup (p.Ile1418TyrfsTer11)
c.953dup (p.Ile319TyrfsTer11)
c.998dup (p.Ile334TyrfsTer11)
c.4454dup (p.Ile1486TyrfsTer11)
c.778dup
c.965dup (p.Ile323TyrfsTer11)
c.*4174dup (n.*4174dup)
c.682dup
c.704dup (p.Ile236TyrfsTer11)
c.707dup (p.Ile237TyrfsTer11)
c.5-12630dup (n.5-12630dup)
c.-43-2060dup (n.-43-2060dup)
c.-98-26391dup (n.-98-26391dup)
n.282dup
n.4527dup
n.4568dup
 ClinVar dbSNP gnomAD v4
17g.43076583delCA002818BRCA1c.4388del (p.Pro1463LeufsTer2)
c.4391del (p.Pro1464LeufsTer2)
c.4265del (p.Pro1422LeufsTer2)
c.4385del (p.Pro1462LeufsTer2)
c.4313del (p.Pro1438LeufsTer2)
c.1079del (p.Pro360LeufsTer2)
c.941del (p.Pro314LeufsTer2)
c.3503del (p.Pro1168LeufsTer2)
c.4268del (p.Pro1423LeufsTer2)
c.4457del (p.Pro1486LeufsTer2)
c.4250del (p.Pro1417LeufsTer2)
c.953del (p.Pro318LeufsTer2)
c.998del (p.Pro333LeufsTer2)
c.4454del (p.Pro1485LeufsTer2)
c.778del
c.965del (p.Pro322LeufsTer2)
c.*4174del (n.*4174del)
c.682del
c.704del (p.Pro235LeufsTer2)
c.707del (p.Pro236LeufsTer2)
c.5-12630del (n.5-12630del)
c.-43-2060del (n.-43-2060del)
c.-98-26391del (n.-98-26391del)
n.282del
n.4527del
n.4568del
 ClinVar dbSNP
17g.43076582G>ACA10592756BRCA1c.4387C>T (p.Pro1463Ser)
c.4390C>T (p.Pro1464Ser)
c.4264C>T (p.Pro1422Ser)
c.4384C>T (p.Pro1462Ser)
c.4312C>T (p.Pro1438Ser)
c.1078C>T (p.Pro360Ser)
c.940C>T (p.Pro314Ser)
c.3502C>T (p.Pro1168Ser)
c.4267C>T (p.Pro1423Ser)
c.4456C>T (p.Pro1486Ser)
c.4249C>T (p.Pro1417Ser)
c.952C>T (p.Pro318Ser)
c.997C>T (p.Pro333Ser)
c.4453C>T (p.Pro1485Ser)
c.777C>T
c.964C>T (p.Pro322Ser)
c.*4173C>T (n.*4173C>T)
c.681C>T
c.703C>T (p.Pro235Ser)
c.706C>T (p.Pro236Ser)
c.5-12631C>T (n.5-12631C>T)
c.-43-2061C>T (n.-43-2061C>T)
c.-98-26392C>T (n.-98-26392C>T)
n.281C>T
n.4526C>T
n.4567C>T
 ClinVar dbSNP
17g.43076582G>CCA10592757BRCA1c.4387C>G (p.Pro1463Ala)
c.4390C>G (p.Pro1464Ala)
c.4264C>G (p.Pro1422Ala)
c.4384C>G (p.Pro1462Ala)
c.4312C>G (p.Pro1438Ala)
c.1078C>G (p.Pro360Ala)
c.940C>G (p.Pro314Ala)
c.3502C>G (p.Pro1168Ala)
c.4267C>G (p.Pro1423Ala)
c.4456C>G (p.Pro1486Ala)
c.4249C>G (p.Pro1417Ala)
c.952C>G (p.Pro318Ala)
c.997C>G (p.Pro333Ala)
c.4453C>G (p.Pro1485Ala)
c.777C>G
c.964C>G (p.Pro322Ala)
c.*4173C>G (n.*4173C>G)
c.681C>G
c.703C>G (p.Pro235Ala)
c.706C>G (p.Pro236Ala)
c.5-12631C>G (n.5-12631C>G)
c.-43-2061C>G (n.-43-2061C>G)
c.-98-26392C>G (n.-98-26392C>G)
n.281C>G
n.4526C>G
n.4567C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43076582G=CA2260775529BRCA1c.4387C= (p.Pro1463=)
c.4390C= (p.Pro1464=)
c.4264C= (p.Pro1422=)
c.4384C= (p.Pro1462=)
c.4312C= (p.Pro1438=)
c.1078C= (p.Pro360=)
c.940C= (p.Pro314=)
c.3502C= (p.Pro1168=)
c.4267C= (p.Pro1423=)
c.4456C= (p.Pro1486=)
c.4249C= (p.Pro1417=)
c.952C= (p.Pro318=)
c.997C= (p.Pro333=)
c.4453C= (p.Pro1485=)
c.777C=
c.964C= (p.Pro322=)
c.*4173C= (n.*4173C=)
c.681C=
c.703C= (p.Pro235=)
c.706C= (p.Pro236=)
c.5-12631C= (n.5-12631C=)
c.-43-2061C= (n.-43-2061C=)
c.-98-26392C= (n.-98-26392C=)
n.281C=
n.4526C=
n.4567C=
17g.43076582G>TCA10592758BRCA1c.4387C>A (p.Pro1463Thr)
c.4390C>A (p.Pro1464Thr)
c.4264C>A (p.Pro1422Thr)
c.4384C>A (p.Pro1462Thr)
c.4312C>A (p.Pro1438Thr)
c.1078C>A (p.Pro360Thr)
c.940C>A (p.Pro314Thr)
c.3502C>A (p.Pro1168Thr)
c.4267C>A (p.Pro1423Thr)
c.4456C>A (p.Pro1486Thr)
c.4249C>A (p.Pro1417Thr)
c.952C>A (p.Pro318Thr)
c.997C>A (p.Pro333Thr)
c.4453C>A (p.Pro1485Thr)
c.777C>A
c.964C>A (p.Pro322Thr)
c.*4173C>A (n.*4173C>A)
c.681C>A
c.703C>A (p.Pro235Thr)
c.706C>A (p.Pro236Thr)
c.5-12631C>A (n.5-12631C>A)
c.-43-2061C>A (n.-43-2061C>A)
c.-98-26392C>A (n.-98-26392C>A)
n.281C>A
n.4526C>A
n.4567C>A
 ClinVar dbSNP
17g.43076582_43076599delinsGGTATTCACTACTTTTCTCA2260775528BRCA1c.4370_4387delinsAGAAAAGTAGTGAATACC (p.Gln1457=)
c.4373_4390delinsAGAAAAGTAGTGAATACC (p.Gln1458=)
c.4247_4264delinsAGAAAAGTAGTGAATACC (p.Gln1416=)
c.4367_4384delinsAGAAAAGTAGTGAATACC (p.Gln1456=)
c.4295_4312delinsAGAAAAGTAGTGAATACC (p.Gln1432=)
c.1061_1078delinsAGAAAAGTAGTGAATACC (p.Gln354=)
c.923_940delinsAGAAAAGTAGTGAATACC (p.Gln308=)
c.3485_3502delinsAGAAAAGTAGTGAATACC (p.Gln1162=)
c.4250_4267delinsAGAAAAGTAGTGAATACC (p.Gln1417=)
c.4439_4456delinsAGAAAAGTAGTGAATACC (p.Gln1480=)
c.4232_4249delinsAGAAAAGTAGTGAATACC (p.Gln1411=)
c.935_952delinsAGAAAAGTAGTGAATACC (p.Gln312=)
c.980_997delinsAGAAAAGTAGTGAATACC (p.Gln327=)
c.4436_4453delinsAGAAAAGTAGTGAATACC (p.Gln1479=)
c.760_777delinsAGAAAAGTAGTGAATACC
c.947_964delinsAGAAAAGTAGTGAATACC (p.Gln316=)
c.*4156_*4173delinsAGAAAAGTAGTGAATACC (n.*4156_*4173delinsAGAAAAGTAGTGAATACC)
c.664_681delinsAGAAAAGTAGTGAATACC
c.686_703delinsAGAAAAGTAGTGAATACC (p.Gln229=)
c.689_706delinsAGAAAAGTAGTGAATACC (p.Gln230=)
c.5-12648_5-12631delinsAGAAAAGTAGTGAATACC (n.5-12648_5-12631delinsAGAAAAGTAGTGAATACC)
c.-43-2078_-43-2061delinsAGAAAAGTAGTGAATACC (n.-43-2078_-43-2061delinsAGAAAAGTAGTGAATACC)
c.-98-26409_-98-26392delinsAGAAAAGTAGTGAATACC (n.-98-26409_-98-26392delinsAGAAAAGTAGTGAATACC)
n.264_281delinsAGAAAAGTAGTGAATACC
n.4509_4526delinsAGAAAAGTAGTGAATACC
n.4550_4567delinsAGAAAAGTAGTGAATACC
17g.43076583G>ACA060200BRCA1c.4386C>T (p.Tyr1462=)
c.4389C>T (p.Tyr1463=)
c.4263C>T (p.Tyr1421=)
c.4383C>T (p.Tyr1461=)
c.4311C>T (p.Tyr1437=)
c.1077C>T (p.Tyr359=)
c.939C>T (p.Tyr313=)
c.3501C>T (p.Tyr1167=)
c.4266C>T (p.Tyr1422=)
c.4455C>T (p.Tyr1485=)
c.4248C>T (p.Tyr1416=)
c.951C>T (p.Tyr317=)
c.996C>T (p.Tyr332=)
c.4452C>T (p.Tyr1484=)
c.776C>T
c.963C>T (p.Tyr321=)
c.*4172C>T (n.*4172C>T)
c.680C>T
c.702C>T (p.Tyr234=)
c.705C>T (p.Tyr235=)
c.5-12632C>T (n.5-12632C>T)
c.-43-2062C>T (n.-43-2062C>T)
c.-98-26393C>T (n.-98-26393C>T)
n.280C>T
n.4525C>T
n.4566C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43076583G>CCA002814BRCA1c.4386C>G (p.Tyr1462Ter)
c.4389C>G (p.Tyr1463Ter)
c.4263C>G (p.Tyr1421Ter)
c.4383C>G (p.Tyr1461Ter)
c.4311C>G (p.Tyr1437Ter)
c.1077C>G (p.Tyr359Ter)
c.939C>G (p.Tyr313Ter)
c.3501C>G (p.Tyr1167Ter)
c.4266C>G (p.Tyr1422Ter)
c.4455C>G (p.Tyr1485Ter)
c.4248C>G (p.Tyr1416Ter)
c.951C>G (p.Tyr317Ter)
c.996C>G (p.Tyr332Ter)
c.4452C>G (p.Tyr1484Ter)
c.776C>G
c.963C>G (p.Tyr321Ter)
c.*4172C>G (n.*4172C>G)
c.680C>G
c.702C>G (p.Tyr234Ter)
c.705C>G (p.Tyr235Ter)
c.5-12632C>G (n.5-12632C>G)
c.-43-2062C>G (n.-43-2062C>G)
c.-98-26393C>G (n.-98-26393C>G)
n.280C>G
n.4525C>G
n.4566C>G
 ClinVar dbSNP
17g.43076583G=CA2260775530BRCA1c.4386C= (p.Tyr1462=)
c.4389C= (p.Tyr1463=)
c.4263C= (p.Tyr1421=)
c.4383C= (p.Tyr1461=)
c.4311C= (p.Tyr1437=)
c.1077C= (p.Tyr359=)
c.939C= (p.Tyr313=)
c.3501C= (p.Tyr1167=)
c.4266C= (p.Tyr1422=)
c.4455C= (p.Tyr1485=)
c.4248C= (p.Tyr1416=)
c.951C= (p.Tyr317=)
c.996C= (p.Tyr332=)
c.4452C= (p.Tyr1484=)
c.776C=
c.963C= (p.Tyr321=)
c.*4172C= (n.*4172C=)
c.680C=
c.702C= (p.Tyr234=)
c.705C= (p.Tyr235=)
c.5-12632C= (n.5-12632C=)
c.-43-2062C= (n.-43-2062C=)
c.-98-26393C= (n.-98-26393C=)
n.280C=
n.4525C=
n.4566C=
17g.43076583G>TCA002813BRCA1c.4386C>A (p.Tyr1462Ter)
c.4389C>A (p.Tyr1463Ter)
c.4263C>A (p.Tyr1421Ter)
c.4383C>A (p.Tyr1461Ter)
c.4311C>A (p.Tyr1437Ter)
c.1077C>A (p.Tyr359Ter)
c.939C>A (p.Tyr313Ter)
c.3501C>A (p.Tyr1167Ter)
c.4266C>A (p.Tyr1422Ter)
c.4455C>A (p.Tyr1485Ter)
c.4248C>A (p.Tyr1416Ter)
c.951C>A (p.Tyr317Ter)
c.996C>A (p.Tyr332Ter)
c.4452C>A (p.Tyr1484Ter)
c.776C>A
c.963C>A (p.Tyr321Ter)
c.*4172C>A (n.*4172C>A)
c.680C>A
c.702C>A (p.Tyr234Ter)
c.705C>A (p.Tyr235Ter)
c.5-12632C>A (n.5-12632C>A)
c.-43-2062C>A (n.-43-2062C>A)
c.-98-26393C>A (n.-98-26393C>A)
n.280C>A
n.4525C>A
n.4566C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076585_43076601delCA002804BRCA1c.4370_4386del (p.Gln1457ProfsTer12)
c.4373_4389del (p.Gln1458ProfsTer12)
c.4247_4263del (p.Gln1416ProfsTer12)
c.4367_4383del (p.Gln1456ProfsTer12)
c.4295_4311del (p.Gln1432ProfsTer12)
c.1061_1077del (p.Gln354ProfsTer12)
c.923_939del (p.Gln308ProfsTer12)
c.3485_3501del (p.Gln1162ProfsTer12)
c.4250_4266del (p.Gln1417ProfsTer12)
c.4439_4455del (p.Gln1480ProfsTer12)
c.4232_4248del (p.Gln1411ProfsTer12)
c.935_951del (p.Gln312ProfsTer12)
c.980_996del (p.Gln327ProfsTer12)
c.4436_4452del (p.Gln1479ProfsTer12)
c.760_776del
c.947_963del (p.Gln316ProfsTer12)
c.*4156_*4172del (n.*4156_*4172del)
c.664_680del
c.686_702del (p.Gln229ProfsTer12)
c.689_705del (p.Gln230ProfsTer12)
c.5-12648_5-12632del (n.5-12648_5-12632del)
c.-43-2078_-43-2062del (n.-43-2078_-43-2062del)
c.-98-26409_-98-26393del (n.-98-26409_-98-26393del)
n.264_280del
n.4509_4525del
n.4550_4566del
 ClinVar dbSNP
17g.43076584T>ACA10592759BRCA1c.4385A>T (p.Tyr1462Phe)
c.4388A>T (p.Tyr1463Phe)
c.4262A>T (p.Tyr1421Phe)
c.4382A>T (p.Tyr1461Phe)
c.4310A>T (p.Tyr1437Phe)
c.1076A>T (p.Tyr359Phe)
c.938A>T (p.Tyr313Phe)
c.3500A>T (p.Tyr1167Phe)
c.4265A>T (p.Tyr1422Phe)
c.4454A>T (p.Tyr1485Phe)
c.4247A>T (p.Tyr1416Phe)
c.950A>T (p.Tyr317Phe)
c.995A>T (p.Tyr332Phe)
c.4451A>T (p.Tyr1484Phe)
c.775A>T
c.962A>T (p.Tyr321Phe)
c.*4171A>T (n.*4171A>T)
c.679A>T
c.701A>T (p.Tyr234Phe)
c.704A>T (p.Tyr235Phe)
c.5-12633A>T (n.5-12633A>T)
c.-43-2063A>T (n.-43-2063A>T)
c.-98-26394A>T (n.-98-26394A>T)
n.279A>T
n.4524A>T
n.4565A>T
 ClinVar dbSNP
17g.43076584T>CCA10592760BRCA1c.4385A>G (p.Tyr1462Cys)
c.4388A>G (p.Tyr1463Cys)
c.4262A>G (p.Tyr1421Cys)
c.4382A>G (p.Tyr1461Cys)
c.4310A>G (p.Tyr1437Cys)
c.1076A>G (p.Tyr359Cys)
c.938A>G (p.Tyr313Cys)
c.3500A>G (p.Tyr1167Cys)
c.4265A>G (p.Tyr1422Cys)
c.4454A>G (p.Tyr1485Cys)
c.4247A>G (p.Tyr1416Cys)
c.950A>G (p.Tyr317Cys)
c.995A>G (p.Tyr332Cys)
c.4451A>G (p.Tyr1484Cys)
c.775A>G
c.962A>G (p.Tyr321Cys)
c.*4171A>G (n.*4171A>G)
c.679A>G
c.701A>G (p.Tyr234Cys)
c.704A>G (p.Tyr235Cys)
c.5-12633A>G (n.5-12633A>G)
c.-43-2063A>G (n.-43-2063A>G)
c.-98-26394A>G (n.-98-26394A>G)
n.279A>G
n.4524A>G
n.4565A>G
17g.43076584T>GCA10592761BRCA1c.4385A>C (p.Tyr1462Ser)
c.4388A>C (p.Tyr1463Ser)
c.4262A>C (p.Tyr1421Ser)
c.4382A>C (p.Tyr1461Ser)
c.4310A>C (p.Tyr1437Ser)
c.1076A>C (p.Tyr359Ser)
c.938A>C (p.Tyr313Ser)
c.3500A>C (p.Tyr1167Ser)
c.4265A>C (p.Tyr1422Ser)
c.4454A>C (p.Tyr1485Ser)
c.4247A>C (p.Tyr1416Ser)
c.950A>C (p.Tyr317Ser)
c.995A>C (p.Tyr332Ser)
c.4451A>C (p.Tyr1484Ser)
c.775A>C
c.962A>C (p.Tyr321Ser)
c.*4171A>C (n.*4171A>C)
c.679A>C
c.701A>C (p.Tyr234Ser)
c.704A>C (p.Tyr235Ser)
c.5-12633A>C (n.5-12633A>C)
c.-43-2063A>C (n.-43-2063A>C)
c.-98-26394A>C (n.-98-26394A>C)
n.279A>C
n.4524A>C
n.4565A>C
 dbSNP
17g.43076584T=CA2260775532BRCA1c.4385A= (p.Tyr1462=)
c.4388A= (p.Tyr1463=)
c.4262A= (p.Tyr1421=)
c.4382A= (p.Tyr1461=)
c.4310A= (p.Tyr1437=)
c.1076A= (p.Tyr359=)
c.938A= (p.Tyr313=)
c.3500A= (p.Tyr1167=)
c.4265A= (p.Tyr1422=)
c.4454A= (p.Tyr1485=)
c.4247A= (p.Tyr1416=)
c.950A= (p.Tyr317=)
c.995A= (p.Tyr332=)
c.4451A= (p.Tyr1484=)
c.775A=
c.962A= (p.Tyr321=)
c.*4171A= (n.*4171A=)
c.679A=
c.701A= (p.Tyr234=)
c.704A= (p.Tyr235=)
c.5-12633A= (n.5-12633A=)
c.-43-2063A= (n.-43-2063A=)
c.-98-26394A= (n.-98-26394A=)
n.279A=
n.4524A=
n.4565A=
17g.43076584_43076585delinsTACA2260775531BRCA1c.4384_4385delinsTA (p.Tyr1462=)
c.4387_4388delinsTA (p.Tyr1463=)
c.4261_4262delinsTA (p.Tyr1421=)
c.4381_4382delinsTA (p.Tyr1461=)
c.4309_4310delinsTA (p.Tyr1437=)
c.1075_1076delinsTA (p.Tyr359=)
c.937_938delinsTA (p.Tyr313=)
c.3499_3500delinsTA (p.Tyr1167=)
c.4264_4265delinsTA (p.Tyr1422=)
c.4453_4454delinsTA (p.Tyr1485=)
c.4246_4247delinsTA (p.Tyr1416=)
c.949_950delinsTA (p.Tyr317=)
c.994_995delinsTA (p.Tyr332=)
c.4450_4451delinsTA (p.Tyr1484=)
c.774_775delinsTA
c.961_962delinsTA (p.Tyr321=)
c.*4170_*4171delinsTA (n.*4170_*4171delinsTA)
c.678_679delinsTA
c.700_701delinsTA (p.Tyr234=)
c.703_704delinsTA (p.Tyr235=)
c.5-12634_5-12633delinsTA (n.5-12634_5-12633delinsTA)
c.-43-2064_-43-2063delinsTA (n.-43-2064_-43-2063delinsTA)
c.-98-26395_-98-26394delinsTA (n.-98-26395_-98-26394delinsTA)
n.278_279delinsTA
n.4523_4524delinsTA
n.4564_4565delinsTA
17g.43076585_43076587dupCA919844319BRCA1c.4383_4385dup (p.Tyr1462Ter)
c.4386_4388dup (p.Tyr1463Ter)
c.4260_4262dup (p.Tyr1421Ter)
c.4380_4382dup (p.Tyr1461Ter)
c.4308_4310dup (p.Tyr1437Ter)
c.1074_1076dup (p.Tyr359Ter)
c.936_938dup (p.Tyr313Ter)
c.3498_3500dup (p.Tyr1167Ter)
c.4263_4265dup (p.Tyr1422Ter)
c.4452_4454dup (p.Tyr1485Ter)
c.4245_4247dup (p.Tyr1416Ter)
c.948_950dup (p.Tyr317Ter)
c.993_995dup (p.Tyr332Ter)
c.4449_4451dup (p.Tyr1484Ter)
c.773_775dup
c.960_962dup (p.Tyr321Ter)
c.*4169_*4171dup (n.*4169_*4171dup)
c.677_679dup
c.699_701dup (p.Tyr234Ter)
c.702_704dup (p.Tyr235Ter)
c.5-12635_5-12633dup (n.5-12635_5-12633dup)
c.-43-2065_-43-2063dup (n.-43-2065_-43-2063dup)
c.-98-26396_-98-26394dup (n.-98-26396_-98-26394dup)
n.277_279dup
n.4522_4524dup
n.4563_4565dup
 dbSNP
17g.43076586_43076592dupCA891844424BRCA1c.4379_4385dup (p.Tyr1462Ter)
c.4382_4388dup (p.Tyr1463Ter)
c.4256_4262dup (p.Tyr1421Ter)
c.4376_4382dup (p.Tyr1461Ter)
c.4304_4310dup (p.Tyr1437Ter)
c.1070_1076dup (p.Tyr359Ter)
c.932_938dup (p.Tyr313Ter)
c.3494_3500dup (p.Tyr1167Ter)
c.4259_4265dup (p.Tyr1422Ter)
c.4448_4454dup (p.Tyr1485Ter)
c.4241_4247dup (p.Tyr1416Ter)
c.944_950dup (p.Tyr317Ter)
c.989_995dup (p.Tyr332Ter)
c.4445_4451dup (p.Tyr1484Ter)
c.769_775dup
c.956_962dup (p.Tyr321Ter)
c.*4165_*4171dup (n.*4165_*4171dup)
c.673_679dup
c.695_701dup (p.Tyr234Ter)
c.698_704dup (p.Tyr235Ter)
c.5-12639_5-12633dup (n.5-12639_5-12633dup)
c.-43-2069_-43-2063dup (n.-43-2069_-43-2063dup)
c.-98-26400_-98-26394dup (n.-98-26400_-98-26394dup)
n.273_279dup
n.4518_4524dup
n.4559_4565dup
 ClinVar dbSNP
17g.43076585delCA002812BRCA1c.4384del (p.Tyr1462ThrfsTer3)
c.4387del (p.Tyr1463ThrfsTer3)
c.4261del (p.Tyr1421ThrfsTer3)
c.4381del (p.Tyr1461ThrfsTer3)
c.4309del (p.Tyr1437ThrfsTer3)
c.1075del (p.Tyr359ThrfsTer3)
c.937del (p.Tyr313ThrfsTer3)
c.3499del (p.Tyr1167ThrfsTer3)
c.4264del (p.Tyr1422ThrfsTer3)
c.4453del (p.Tyr1485ThrfsTer3)
c.4246del (p.Tyr1416ThrfsTer3)
c.949del (p.Tyr317ThrfsTer3)
c.994del (p.Tyr332ThrfsTer3)
c.4450del (p.Tyr1484ThrfsTer3)
c.774del
c.961del (p.Tyr321ThrfsTer3)
c.*4170del (n.*4170del)
c.678del
c.700del (p.Tyr234ThrfsTer3)
c.703del (p.Tyr235ThrfsTer3)
c.5-12634del (n.5-12634del)
c.-43-2064del (n.-43-2064del)
c.-98-26395del (n.-98-26395del)
n.278del
n.4523del
n.4564del
 ClinVar dbSNP
17g.43076585A=CA2260775533BRCA1c.4384T= (p.Tyr1462=)
c.4387T= (p.Tyr1463=)
c.4261T= (p.Tyr1421=)
c.4381T= (p.Tyr1461=)
c.4309T= (p.Tyr1437=)
c.1075T= (p.Tyr359=)
c.937T= (p.Tyr313=)
c.3499T= (p.Tyr1167=)
c.4264T= (p.Tyr1422=)
c.4453T= (p.Tyr1485=)
c.4246T= (p.Tyr1416=)
c.949T= (p.Tyr317=)
c.994T= (p.Tyr332=)
c.4450T= (p.Tyr1484=)
c.774T=
c.961T= (p.Tyr321=)
c.*4170T= (n.*4170T=)
c.678T=
c.700T= (p.Tyr234=)
c.703T= (p.Tyr235=)
c.5-12634T= (n.5-12634T=)
c.-43-2064T= (n.-43-2064T=)
c.-98-26395T= (n.-98-26395T=)
n.278T=
n.4523T=
n.4564T=
17g.43076585A>CCA10592762BRCA1c.4384T>G (p.Tyr1462Asp)
c.4387T>G (p.Tyr1463Asp)
c.4261T>G (p.Tyr1421Asp)
c.4381T>G (p.Tyr1461Asp)
c.4309T>G (p.Tyr1437Asp)
c.1075T>G (p.Tyr359Asp)
c.937T>G (p.Tyr313Asp)
c.3499T>G (p.Tyr1167Asp)
c.4264T>G (p.Tyr1422Asp)
c.4453T>G (p.Tyr1485Asp)
c.4246T>G (p.Tyr1416Asp)
c.949T>G (p.Tyr317Asp)
c.994T>G (p.Tyr332Asp)
c.4450T>G (p.Tyr1484Asp)
c.774T>G
c.961T>G (p.Tyr321Asp)
c.*4170T>G (n.*4170T>G)
c.678T>G
c.700T>G (p.Tyr234Asp)
c.703T>G (p.Tyr235Asp)
c.5-12634T>G (n.5-12634T>G)
c.-43-2064T>G (n.-43-2064T>G)
c.-98-26395T>G (n.-98-26395T>G)
n.278T>G
n.4523T>G
n.4564T>G
17g.43076585A>GCA10592763BRCA1c.4384T>C (p.Tyr1462His)
c.4387T>C (p.Tyr1463His)
c.4261T>C (p.Tyr1421His)
c.4381T>C (p.Tyr1461His)
c.4309T>C (p.Tyr1437His)
c.1075T>C (p.Tyr359His)
c.937T>C (p.Tyr313His)
c.3499T>C (p.Tyr1167His)
c.4264T>C (p.Tyr1422His)
c.4453T>C (p.Tyr1485His)
c.4246T>C (p.Tyr1416His)
c.949T>C (p.Tyr317His)
c.994T>C (p.Tyr332His)
c.4450T>C (p.Tyr1484His)
c.774T>C
c.961T>C (p.Tyr321His)
c.*4170T>C (n.*4170T>C)
c.678T>C
c.700T>C (p.Tyr234His)
c.703T>C (p.Tyr235His)
c.5-12634T>C (n.5-12634T>C)
c.-43-2064T>C (n.-43-2064T>C)
c.-98-26395T>C (n.-98-26395T>C)
n.278T>C
n.4523T>C
n.4564T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43076585A>TCA10592764BRCA1c.4384T>A (p.Tyr1462Asn)
c.4387T>A (p.Tyr1463Asn)
c.4261T>A (p.Tyr1421Asn)
c.4381T>A (p.Tyr1461Asn)
c.4309T>A (p.Tyr1437Asn)
c.1075T>A (p.Tyr359Asn)
c.937T>A (p.Tyr313Asn)
c.3499T>A (p.Tyr1167Asn)
c.4264T>A (p.Tyr1422Asn)
c.4453T>A (p.Tyr1485Asn)
c.4246T>A (p.Tyr1416Asn)
c.949T>A (p.Tyr317Asn)
c.994T>A (p.Tyr332Asn)
c.4450T>A (p.Tyr1484Asn)
c.774T>A
c.961T>A (p.Tyr321Asn)
c.*4170T>A (n.*4170T>A)
c.678T>A
c.700T>A (p.Tyr234Asn)
c.703T>A (p.Tyr235Asn)
c.5-12634T>A (n.5-12634T>A)
c.-43-2064T>A (n.-43-2064T>A)
c.-98-26395T>A (n.-98-26395T>A)
n.278T>A
n.4523T>A
n.4564T>A
 ClinVar dbSNP
17g.43076585dupCA2837995499BRCA1c.4384dup (p.Tyr1462LeufsTer13)
c.4387dup (p.Tyr1463LeufsTer13)
c.4261dup (p.Tyr1421LeufsTer13)
c.4381dup (p.Tyr1461LeufsTer13)
c.4309dup (p.Tyr1437LeufsTer13)
c.1075dup (p.Tyr359LeufsTer13)
c.937dup (p.Tyr313LeufsTer13)
c.3499dup (p.Tyr1167LeufsTer13)
c.4264dup (p.Tyr1422LeufsTer13)
c.4453dup (p.Tyr1485LeufsTer13)
c.4246dup (p.Tyr1416LeufsTer13)
c.949dup (p.Tyr317LeufsTer13)
c.994dup (p.Tyr332LeufsTer13)
c.4450dup (p.Tyr1484LeufsTer13)
c.774dup
c.961dup (p.Tyr321LeufsTer13)
c.*4170dup (n.*4170dup)
c.678dup
c.700dup (p.Tyr234LeufsTer13)
c.703dup (p.Tyr235LeufsTer13)
c.5-12634dup (n.5-12634dup)
c.-43-2064dup (n.-43-2064dup)
c.-98-26395dup (n.-98-26395dup)
n.278dup
n.4523dup
n.4564dup
17g.43076586T>ACA10592765BRCA1c.4383A>T (p.Glu1461Asp)
c.4386A>T (p.Glu1462Asp)
c.4260A>T (p.Glu1420Asp)
c.4380A>T (p.Glu1460Asp)
c.4308A>T (p.Glu1436Asp)
c.1074A>T (p.Glu358Asp)
c.936A>T (p.Glu312Asp)
c.3498A>T (p.Glu1166Asp)
c.4263A>T (p.Glu1421Asp)
c.4452A>T (p.Glu1484Asp)
c.4245A>T (p.Glu1415Asp)
c.948A>T (p.Glu316Asp)
c.993A>T (p.Glu331Asp)
c.4449A>T (p.Glu1483Asp)
c.773A>T
c.960A>T (p.Glu320Asp)
c.*4169A>T (n.*4169A>T)
c.677A>T
c.699A>T (p.Glu233Asp)
c.702A>T (p.Glu234Asp)
c.5-12635A>T (n.5-12635A>T)
c.-43-2065A>T (n.-43-2065A>T)
c.-98-26396A>T (n.-98-26396A>T)
n.277A>T
n.4522A>T
n.4563A>T
17g.43076586T>CCA500146856BRCA1c.4383A>G (p.Glu1461=)
c.4386A>G (p.Glu1462=)
c.4260A>G (p.Glu1420=)
c.4380A>G (p.Glu1460=)
c.4308A>G (p.Glu1436=)
c.1074A>G (p.Glu358=)
c.936A>G (p.Glu312=)
c.3498A>G (p.Glu1166=)
c.4263A>G (p.Glu1421=)
c.4452A>G (p.Glu1484=)
c.4245A>G (p.Glu1415=)
c.948A>G (p.Glu316=)
c.993A>G (p.Glu331=)
c.4449A>G (p.Glu1483=)
c.773A>G
c.960A>G (p.Glu320=)
c.*4169A>G (n.*4169A>G)
c.677A>G
c.699A>G (p.Glu233=)
c.702A>G (p.Glu234=)
c.5-12635A>G (n.5-12635A>G)
c.-43-2065A>G (n.-43-2065A>G)
c.-98-26396A>G (n.-98-26396A>G)
n.277A>G
n.4522A>G
n.4563A>G
 dbSNP gnomAD v4
17g.43076586T>GCA10592766BRCA1c.4383A>C (p.Glu1461Asp)
c.4386A>C (p.Glu1462Asp)
c.4260A>C (p.Glu1420Asp)
c.4380A>C (p.Glu1460Asp)
c.4308A>C (p.Glu1436Asp)
c.1074A>C (p.Glu358Asp)
c.936A>C (p.Glu312Asp)
c.3498A>C (p.Glu1166Asp)
c.4263A>C (p.Glu1421Asp)
c.4452A>C (p.Glu1484Asp)
c.4245A>C (p.Glu1415Asp)
c.948A>C (p.Glu316Asp)
c.993A>C (p.Glu331Asp)
c.4449A>C (p.Glu1483Asp)
c.773A>C
c.960A>C (p.Glu320Asp)
c.*4169A>C (n.*4169A>C)
c.677A>C
c.699A>C (p.Glu233Asp)
c.702A>C (p.Glu234Asp)
c.5-12635A>C (n.5-12635A>C)
c.-43-2065A>C (n.-43-2065A>C)
c.-98-26396A>C (n.-98-26396A>C)
n.277A>C
n.4522A>C
n.4563A>C
17g.43076586T=CA2260775534BRCA1c.4383A= (p.Glu1461=)
c.4386A= (p.Glu1462=)
c.4260A= (p.Glu1420=)
c.4380A= (p.Glu1460=)
c.4308A= (p.Glu1436=)
c.1074A= (p.Glu358=)
c.936A= (p.Glu312=)
c.3498A= (p.Glu1166=)
c.4263A= (p.Glu1421=)
c.4452A= (p.Glu1484=)
c.4245A= (p.Glu1415=)
c.948A= (p.Glu316=)
c.993A= (p.Glu331=)
c.4449A= (p.Glu1483=)
c.773A=
c.960A= (p.Glu320=)
c.*4169A= (n.*4169A=)
c.677A=
c.699A= (p.Glu233=)
c.702A= (p.Glu234=)
c.5-12635A= (n.5-12635A=)
c.-43-2065A= (n.-43-2065A=)
c.-98-26396A= (n.-98-26396A=)
n.277A=
n.4522A=
n.4563A=
17g.43076587dupCA273823BRCA1c.4383dup (p.Tyr1462IlefsTer13)
c.4386dup (p.Tyr1463IlefsTer13)
c.4260dup (p.Tyr1421IlefsTer13)
c.4380dup (p.Tyr1461IlefsTer13)
c.4308dup (p.Tyr1437IlefsTer13)
c.1074dup (p.Tyr359IlefsTer13)
c.936dup (p.Tyr313IlefsTer13)
c.3498dup (p.Tyr1167IlefsTer13)
c.4263dup (p.Tyr1422IlefsTer13)
c.4452dup (p.Tyr1485IlefsTer13)
c.4245dup (p.Tyr1416IlefsTer13)
c.948dup (p.Tyr317IlefsTer13)
c.993dup (p.Tyr332IlefsTer13)
c.4449dup (p.Tyr1484IlefsTer13)
c.773dup
c.960dup (p.Tyr321IlefsTer13)
c.*4169dup (n.*4169dup)
c.677dup
c.699dup (p.Tyr234IlefsTer13)
c.702dup (p.Tyr235IlefsTer13)
c.5-12635dup (n.5-12635dup)
c.-43-2065dup (n.-43-2065dup)
c.-98-26396dup (n.-98-26396dup)
n.277dup
n.4522dup
n.4563dup
 ClinVar dbSNP
17g.43076587delCA2695225927BRCA1c.4383del (p.Glu1461AspfsTer4)
c.4386del (p.Glu1462AspfsTer4)
c.4260del (p.Glu1420AspfsTer4)
c.4380del (p.Glu1460AspfsTer4)
c.4308del (p.Glu1436AspfsTer4)
c.1074del (p.Glu358AspfsTer4)
c.936del (p.Glu312AspfsTer4)
c.3498del (p.Glu1166AspfsTer4)
c.4263del (p.Glu1421AspfsTer4)
c.4452del (p.Glu1484AspfsTer4)
c.4245del (p.Glu1415AspfsTer4)
c.948del (p.Glu316AspfsTer4)
c.993del (p.Glu331AspfsTer4)
c.4449del (p.Glu1483AspfsTer4)
c.773del
c.960del (p.Glu320AspfsTer4)
c.*4169del (n.*4169del)
c.677del
c.699del (p.Glu233AspfsTer4)
c.702del (p.Glu234AspfsTer4)
c.5-12635del (n.5-12635del)
c.-43-2065del (n.-43-2065del)
c.-98-26396del (n.-98-26396del)
n.277del
n.4522del
n.4563del
17g.43076587T>ACA10592767BRCA1c.4382A>T (p.Glu1461Val)
c.4385A>T (p.Glu1462Val)
c.4259A>T (p.Glu1420Val)
c.4379A>T (p.Glu1460Val)
c.4307A>T (p.Glu1436Val)
c.1073A>T (p.Glu358Val)
c.935A>T (p.Glu312Val)
c.3497A>T (p.Glu1166Val)
c.4262A>T (p.Glu1421Val)
c.4451A>T (p.Glu1484Val)
c.4244A>T (p.Glu1415Val)
c.947A>T (p.Glu316Val)
c.992A>T (p.Glu331Val)
c.4448A>T (p.Glu1483Val)
c.772A>T
c.959A>T (p.Glu320Val)
c.*4168A>T (n.*4168A>T)
c.676A>T
c.698A>T (p.Glu233Val)
c.701A>T (p.Glu234Val)
c.5-12636A>T (n.5-12636A>T)
c.-43-2066A>T (n.-43-2066A>T)
c.-98-26397A>T (n.-98-26397A>T)
n.276A>T
n.4521A>T
n.4562A>T
 ClinVar dbSNP
17g.43076587T>CCA10592768BRCA1c.4382A>G (p.Glu1461Gly)
c.4385A>G (p.Glu1462Gly)
c.4259A>G (p.Glu1420Gly)
c.4379A>G (p.Glu1460Gly)
c.4307A>G (p.Glu1436Gly)
c.1073A>G (p.Glu358Gly)
c.935A>G (p.Glu312Gly)
c.3497A>G (p.Glu1166Gly)
c.4262A>G (p.Glu1421Gly)
c.4451A>G (p.Glu1484Gly)
c.4244A>G (p.Glu1415Gly)
c.947A>G (p.Glu316Gly)
c.992A>G (p.Glu331Gly)
c.4448A>G (p.Glu1483Gly)
c.772A>G
c.959A>G (p.Glu320Gly)
c.*4168A>G (n.*4168A>G)
c.676A>G
c.698A>G (p.Glu233Gly)
c.701A>G (p.Glu234Gly)
c.5-12636A>G (n.5-12636A>G)
c.-43-2066A>G (n.-43-2066A>G)
c.-98-26397A>G (n.-98-26397A>G)
n.276A>G
n.4521A>G
n.4562A>G
 ClinVar dbSNP
17g.43076587T>GCA10592769BRCA1c.4382A>C (p.Glu1461Ala)
c.4385A>C (p.Glu1462Ala)
c.4259A>C (p.Glu1420Ala)
c.4379A>C (p.Glu1460Ala)
c.4307A>C (p.Glu1436Ala)
c.1073A>C (p.Glu358Ala)
c.935A>C (p.Glu312Ala)
c.3497A>C (p.Glu1166Ala)
c.4262A>C (p.Glu1421Ala)
c.4451A>C (p.Glu1484Ala)
c.4244A>C (p.Glu1415Ala)
c.947A>C (p.Glu316Ala)
c.992A>C (p.Glu331Ala)
c.4448A>C (p.Glu1483Ala)
c.772A>C
c.959A>C (p.Glu320Ala)
c.*4168A>C (n.*4168A>C)
c.676A>C
c.698A>C (p.Glu233Ala)
c.701A>C (p.Glu234Ala)
c.5-12636A>C (n.5-12636A>C)
c.-43-2066A>C (n.-43-2066A>C)
c.-98-26397A>C (n.-98-26397A>C)
n.276A>C
n.4521A>C
n.4562A>C
 gnomAD v4
17g.43076587T=CA2260775535BRCA1c.4382A= (p.Glu1461=)
c.4385A= (p.Glu1462=)
c.4259A= (p.Glu1420=)
c.4379A= (p.Glu1460=)
c.4307A= (p.Glu1436=)
c.1073A= (p.Glu358=)
c.935A= (p.Glu312=)
c.3497A= (p.Glu1166=)
c.4262A= (p.Glu1421=)
c.4451A= (p.Glu1484=)
c.4244A= (p.Glu1415=)
c.947A= (p.Glu316=)
c.992A= (p.Glu331=)
c.4448A= (p.Glu1483=)
c.772A=
c.959A= (p.Glu320=)
c.*4168A= (n.*4168A=)
c.676A=
c.698A= (p.Glu233=)
c.701A= (p.Glu234=)
c.5-12636A= (n.5-12636A=)
c.-43-2066A= (n.-43-2066A=)
c.-98-26397A= (n.-98-26397A=)
n.276A=
n.4521A=
n.4562A=
17g.43076588C>ACA10592770BRCA1c.4381G>T (p.Glu1461Ter)
c.4384G>T (p.Glu1462Ter)
c.4258G>T (p.Glu1420Ter)
c.4378G>T (p.Glu1460Ter)
c.4306G>T (p.Glu1436Ter)
c.1072G>T (p.Glu358Ter)
c.934G>T (p.Glu312Ter)
c.3496G>T (p.Glu1166Ter)
c.4261G>T (p.Glu1421Ter)
c.4450G>T (p.Glu1484Ter)
c.4243G>T (p.Glu1415Ter)
c.946G>T (p.Glu316Ter)
c.991G>T (p.Glu331Ter)
c.4447G>T (p.Glu1483Ter)
c.771G>T
c.958G>T (p.Glu320Ter)
c.*4167G>T (n.*4167G>T)
c.675G>T
c.697G>T (p.Glu233Ter)
c.700G>T (p.Glu234Ter)
c.5-12637G>T (n.5-12637G>T)
c.-43-2067G>T (n.-43-2067G>T)
c.-98-26398G>T (n.-98-26398G>T)
n.275G>T
n.4520G>T
n.4561G>T
 dbSNP
17g.43076588C=CA2260775536BRCA1c.4381G= (p.Glu1461=)
c.4384G= (p.Glu1462=)
c.4258G= (p.Glu1420=)
c.4378G= (p.Glu1460=)
c.4306G= (p.Glu1436=)
c.1072G= (p.Glu358=)
c.934G= (p.Glu312=)
c.3496G= (p.Glu1166=)
c.4261G= (p.Glu1421=)
c.4450G= (p.Glu1484=)
c.4243G= (p.Glu1415=)
c.946G= (p.Glu316=)
c.991G= (p.Glu331=)
c.4447G= (p.Glu1483=)
c.771G=
c.958G= (p.Glu320=)
c.*4167G= (n.*4167G=)
c.675G=
c.697G= (p.Glu233=)
c.700G= (p.Glu234=)
c.5-12637G= (n.5-12637G=)
c.-43-2067G= (n.-43-2067G=)
c.-98-26398G= (n.-98-26398G=)
n.275G=
n.4520G=
n.4561G=
17g.43076588C>GCA10592771BRCA1c.4381G>C (p.Glu1461Gln)
c.4384G>C (p.Glu1462Gln)
c.4258G>C (p.Glu1420Gln)
c.4378G>C (p.Glu1460Gln)
c.4306G>C (p.Glu1436Gln)
c.1072G>C (p.Glu358Gln)
c.934G>C (p.Glu312Gln)
c.3496G>C (p.Glu1166Gln)
c.4261G>C (p.Glu1421Gln)
c.4450G>C (p.Glu1484Gln)
c.4243G>C (p.Glu1415Gln)
c.946G>C (p.Glu316Gln)
c.991G>C (p.Glu331Gln)
c.4447G>C (p.Glu1483Gln)
c.771G>C
c.958G>C (p.Glu320Gln)
c.*4167G>C (n.*4167G>C)
c.675G>C
c.697G>C (p.Glu233Gln)
c.700G>C (p.Glu234Gln)
c.5-12637G>C (n.5-12637G>C)
c.-43-2067G>C (n.-43-2067G>C)
c.-98-26398G>C (n.-98-26398G>C)
n.275G>C
n.4520G>C
n.4561G>C
 dbSNP
17g.43076588C>TCA002811BRCA1c.4381G>A (p.Glu1461Lys)
c.4384G>A (p.Glu1462Lys)
c.4258G>A (p.Glu1420Lys)
c.4378G>A (p.Glu1460Lys)
c.4306G>A (p.Glu1436Lys)
c.1072G>A (p.Glu358Lys)
c.934G>A (p.Glu312Lys)
c.3496G>A (p.Glu1166Lys)
c.4261G>A (p.Glu1421Lys)
c.4450G>A (p.Glu1484Lys)
c.4243G>A (p.Glu1415Lys)
c.946G>A (p.Glu316Lys)
c.991G>A (p.Glu331Lys)
c.4447G>A (p.Glu1483Lys)
c.771G>A
c.958G>A (p.Glu320Lys)
c.*4167G>A (n.*4167G>A)
c.675G>A
c.697G>A (p.Glu233Lys)
c.700G>A (p.Glu234Lys)
c.5-12637G>A (n.5-12637G>A)
c.-43-2067G>A (n.-43-2067G>A)
c.-98-26398G>A (n.-98-26398G>A)
n.275G>A
n.4520G>A
n.4561G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076589A=CA2260775537BRCA1c.4380T= (p.Ser1460=)
c.4383T= (p.Ser1461=)
c.4257T= (p.Ser1419=)
c.4377T= (p.Ser1459=)
c.4305T= (p.Ser1435=)
c.1071T= (p.Ser357=)
c.933T= (p.Ser311=)
c.3495T= (p.Ser1165=)
c.4260T= (p.Ser1420=)
c.4449T= (p.Ser1483=)
c.4242T= (p.Ser1414=)
c.945T= (p.Ser315=)
c.990T= (p.Ser330=)
c.4446T= (p.Ser1482=)
c.770T=
c.957T= (p.Ser319=)
c.*4166T= (n.*4166T=)
c.674T=
c.696T= (p.Ser232=)
c.699T= (p.Ser233=)
c.5-12638T= (n.5-12638T=)
c.-43-2068T= (n.-43-2068T=)
c.-98-26399T= (n.-98-26399T=)
n.274T=
n.4519T=
n.4560T=
17g.43076589A>CCA10592772BRCA1c.4380T>G (p.Ser1460Arg)
c.4383T>G (p.Ser1461Arg)
c.4257T>G (p.Ser1419Arg)
c.4377T>G (p.Ser1459Arg)
c.4305T>G (p.Ser1435Arg)
c.1071T>G (p.Ser357Arg)
c.933T>G (p.Ser311Arg)
c.3495T>G (p.Ser1165Arg)
c.4260T>G (p.Ser1420Arg)
c.4449T>G (p.Ser1483Arg)
c.4242T>G (p.Ser1414Arg)
c.945T>G (p.Ser315Arg)
c.990T>G (p.Ser330Arg)
c.4446T>G (p.Ser1482Arg)
c.770T>G
c.957T>G (p.Ser319Arg)
c.*4166T>G (n.*4166T>G)
c.674T>G
c.696T>G (p.Ser232Arg)
c.699T>G (p.Ser233Arg)
c.5-12638T>G (n.5-12638T>G)
c.-43-2068T>G (n.-43-2068T>G)
c.-98-26399T>G (n.-98-26399T>G)
n.274T>G
n.4519T>G
n.4560T>G
 dbSNP
17g.43076589A>GCA500146858BRCA1c.4380T>C (p.Ser1460=)
c.4383T>C (p.Ser1461=)
c.4257T>C (p.Ser1419=)
c.4377T>C (p.Ser1459=)
c.4305T>C (p.Ser1435=)
c.1071T>C (p.Ser357=)
c.933T>C (p.Ser311=)
c.3495T>C (p.Ser1165=)
c.4260T>C (p.Ser1420=)
c.4449T>C (p.Ser1483=)
c.4242T>C (p.Ser1414=)
c.945T>C (p.Ser315=)
c.990T>C (p.Ser330=)
c.4446T>C (p.Ser1482=)
c.770T>C
c.957T>C (p.Ser319=)
c.*4166T>C (n.*4166T>C)
c.674T>C
c.696T>C (p.Ser232=)
c.699T>C (p.Ser233=)
c.5-12638T>C (n.5-12638T>C)
c.-43-2068T>C (n.-43-2068T>C)
c.-98-26399T>C (n.-98-26399T>C)
n.274T>C
n.4519T>C
n.4560T>C
17g.43076589A>TCA002810BRCA1c.4380T>A (p.Ser1460Arg)
c.4383T>A (p.Ser1461Arg)
c.4257T>A (p.Ser1419Arg)
c.4377T>A (p.Ser1459Arg)
c.4305T>A (p.Ser1435Arg)
c.1071T>A (p.Ser357Arg)
c.933T>A (p.Ser311Arg)
c.3495T>A (p.Ser1165Arg)
c.4260T>A (p.Ser1420Arg)
c.4449T>A (p.Ser1483Arg)
c.4242T>A (p.Ser1414Arg)
c.945T>A (p.Ser315Arg)
c.990T>A (p.Ser330Arg)
c.4446T>A (p.Ser1482Arg)
c.770T>A
c.957T>A (p.Ser319Arg)
c.*4166T>A (n.*4166T>A)
c.674T>A
c.696T>A (p.Ser232Arg)
c.699T>A (p.Ser233Arg)
c.5-12638T>A (n.5-12638T>A)
c.-43-2068T>A (n.-43-2068T>A)
c.-98-26399T>A (n.-98-26399T>A)
n.274T>A
n.4519T>A
n.4560T>A
 ClinVar dbSNP gnomAD v4
17g.43076590C>ACA10592773BRCA1c.4379G>T (p.Ser1460Ile)
c.4382G>T (p.Ser1461Ile)
c.4256G>T (p.Ser1419Ile)
c.4376G>T (p.Ser1459Ile)
c.4304G>T (p.Ser1435Ile)
c.1070G>T (p.Ser357Ile)
c.932G>T (p.Ser311Ile)
c.3494G>T (p.Ser1165Ile)
c.4259G>T (p.Ser1420Ile)
c.4448G>T (p.Ser1483Ile)
c.4241G>T (p.Ser1414Ile)
c.944G>T (p.Ser315Ile)
c.989G>T (p.Ser330Ile)
c.4445G>T (p.Ser1482Ile)
c.769G>T
c.956G>T (p.Ser319Ile)
c.*4165G>T (n.*4165G>T)
c.673G>T
c.695G>T (p.Ser232Ile)
c.698G>T (p.Ser233Ile)
c.5-12639G>T (n.5-12639G>T)
c.-43-2069G>T (n.-43-2069G>T)
c.-98-26400G>T (n.-98-26400G>T)
n.273G>T
n.4518G>T
n.4559G>T
17g.43076590C=CA2260775538BRCA1c.4379G= (p.Ser1460=)
c.4382G= (p.Ser1461=)
c.4256G= (p.Ser1419=)
c.4376G= (p.Ser1459=)
c.4304G= (p.Ser1435=)
c.1070G= (p.Ser357=)
c.932G= (p.Ser311=)
c.3494G= (p.Ser1165=)
c.4259G= (p.Ser1420=)
c.4448G= (p.Ser1483=)
c.4241G= (p.Ser1414=)
c.944G= (p.Ser315=)
c.989G= (p.Ser330=)
c.4445G= (p.Ser1482=)
c.769G=
c.956G= (p.Ser319=)
c.*4165G= (n.*4165G=)
c.673G=
c.695G= (p.Ser232=)
c.698G= (p.Ser233=)
c.5-12639G= (n.5-12639G=)
c.-43-2069G= (n.-43-2069G=)
c.-98-26400G= (n.-98-26400G=)
n.273G=
n.4518G=
n.4559G=
17g.43076590C>GCA10592774BRCA1c.4379G>C (p.Ser1460Thr)
c.4382G>C (p.Ser1461Thr)
c.4256G>C (p.Ser1419Thr)
c.4376G>C (p.Ser1459Thr)
c.4304G>C (p.Ser1435Thr)
c.1070G>C (p.Ser357Thr)
c.932G>C (p.Ser311Thr)
c.3494G>C (p.Ser1165Thr)
c.4259G>C (p.Ser1420Thr)
c.4448G>C (p.Ser1483Thr)
c.4241G>C (p.Ser1414Thr)
c.944G>C (p.Ser315Thr)
c.989G>C (p.Ser330Thr)
c.4445G>C (p.Ser1482Thr)
c.769G>C
c.956G>C (p.Ser319Thr)
c.*4165G>C (n.*4165G>C)
c.673G>C
c.695G>C (p.Ser232Thr)
c.698G>C (p.Ser233Thr)
c.5-12639G>C (n.5-12639G>C)
c.-43-2069G>C (n.-43-2069G>C)
c.-98-26400G>C (n.-98-26400G>C)
n.273G>C
n.4518G>C
n.4559G>C
 ClinVar dbSNP
17g.43076590C>TCA10592775BRCA1c.4379G>A (p.Ser1460Asn)
c.4382G>A (p.Ser1461Asn)
c.4256G>A (p.Ser1419Asn)
c.4376G>A (p.Ser1459Asn)
c.4304G>A (p.Ser1435Asn)
c.1070G>A (p.Ser357Asn)
c.932G>A (p.Ser311Asn)
c.3494G>A (p.Ser1165Asn)
c.4259G>A (p.Ser1420Asn)
c.4448G>A (p.Ser1483Asn)
c.4241G>A (p.Ser1414Asn)
c.944G>A (p.Ser315Asn)
c.989G>A (p.Ser330Asn)
c.4445G>A (p.Ser1482Asn)
c.769G>A
c.956G>A (p.Ser319Asn)
c.*4165G>A (n.*4165G>A)
c.673G>A
c.695G>A (p.Ser232Asn)
c.698G>A (p.Ser233Asn)
c.5-12639G>A (n.5-12639G>A)
c.-43-2069G>A (n.-43-2069G>A)
c.-98-26400G>A (n.-98-26400G>A)
n.273G>A
n.4518G>A
n.4559G>A
 ClinVar dbSNP gnomAD v4
17g.43076591T>ACA10592776BRCA1c.4378A>T (p.Ser1460Cys)
c.4381A>T (p.Ser1461Cys)
c.4255A>T (p.Ser1419Cys)
c.4375A>T (p.Ser1459Cys)
c.4303A>T (p.Ser1435Cys)
c.1069A>T (p.Ser357Cys)
c.931A>T (p.Ser311Cys)
c.3493A>T (p.Ser1165Cys)
c.4258A>T (p.Ser1420Cys)
c.4447A>T (p.Ser1483Cys)
c.4240A>T (p.Ser1414Cys)
c.943A>T (p.Ser315Cys)
c.988A>T (p.Ser330Cys)
c.4444A>T (p.Ser1482Cys)
c.768A>T
c.955A>T (p.Ser319Cys)
c.*4164A>T (n.*4164A>T)
c.672A>T
c.694A>T (p.Ser232Cys)
c.697A>T (p.Ser233Cys)
c.5-12640A>T (n.5-12640A>T)
c.-43-2070A>T (n.-43-2070A>T)
c.-98-26401A>T (n.-98-26401A>T)
n.272A>T
n.4517A>T
n.4558A>T
 dbSNP
17g.43076591T>CCA10592777BRCA1c.4378A>G (p.Ser1460Gly)
c.4381A>G (p.Ser1461Gly)
c.4255A>G (p.Ser1419Gly)
c.4375A>G (p.Ser1459Gly)
c.4303A>G (p.Ser1435Gly)
c.1069A>G (p.Ser357Gly)
c.931A>G (p.Ser311Gly)
c.3493A>G (p.Ser1165Gly)
c.4258A>G (p.Ser1420Gly)
c.4447A>G (p.Ser1483Gly)
c.4240A>G (p.Ser1414Gly)
c.943A>G (p.Ser315Gly)
c.988A>G (p.Ser330Gly)
c.4444A>G (p.Ser1482Gly)
c.768A>G
c.955A>G (p.Ser319Gly)
c.*4164A>G (n.*4164A>G)
c.672A>G
c.694A>G (p.Ser232Gly)
c.697A>G (p.Ser233Gly)
c.5-12640A>G (n.5-12640A>G)
c.-43-2070A>G (n.-43-2070A>G)
c.-98-26401A>G (n.-98-26401A>G)
n.272A>G
n.4517A>G
n.4558A>G
 ClinVar dbSNP
17g.43076591T>GCA10592778BRCA1c.4378A>C (p.Ser1460Arg)
c.4381A>C (p.Ser1461Arg)
c.4255A>C (p.Ser1419Arg)
c.4375A>C (p.Ser1459Arg)
c.4303A>C (p.Ser1435Arg)
c.1069A>C (p.Ser357Arg)
c.931A>C (p.Ser311Arg)
c.3493A>C (p.Ser1165Arg)
c.4258A>C (p.Ser1420Arg)
c.4447A>C (p.Ser1483Arg)
c.4240A>C (p.Ser1414Arg)
c.943A>C (p.Ser315Arg)
c.988A>C (p.Ser330Arg)
c.4444A>C (p.Ser1482Arg)
c.768A>C
c.955A>C (p.Ser319Arg)
c.*4164A>C (n.*4164A>C)
c.672A>C
c.694A>C (p.Ser232Arg)
c.697A>C (p.Ser233Arg)
c.5-12640A>C (n.5-12640A>C)
c.-43-2070A>C (n.-43-2070A>C)
c.-98-26401A>C (n.-98-26401A>C)
n.272A>C
n.4517A>C
n.4558A>C
17g.43076591dupCA2695201337BRCA1c.4378dup (p.Ser1460LysfsTer2)
c.4381dup (p.Ser1461LysfsTer2)
c.4255dup (p.Ser1419LysfsTer2)
c.4375dup (p.Ser1459LysfsTer2)
c.4303dup (p.Ser1435LysfsTer2)
c.1069dup (p.Ser357LysfsTer2)
c.931dup (p.Ser311LysfsTer2)
c.3493dup (p.Ser1165LysfsTer2)
c.4258dup (p.Ser1420LysfsTer2)
c.4447dup (p.Ser1483LysfsTer2)
c.4240dup (p.Ser1414LysfsTer2)
c.943dup (p.Ser315LysfsTer2)
c.988dup (p.Ser330LysfsTer2)
c.4444dup (p.Ser1482LysfsTer2)
c.768dup
c.955dup (p.Ser319LysfsTer2)
c.*4164dup (n.*4164dup)
c.672dup
c.694dup (p.Ser232LysfsTer2)
c.697dup (p.Ser233LysfsTer2)
c.5-12640dup (n.5-12640dup)
c.-43-2070dup (n.-43-2070dup)
c.-98-26401dup (n.-98-26401dup)
n.272dup
n.4517dup
n.4558dup
 ClinVar
17g.43076592A=CA2260775539BRCA1c.4377T= (p.Ser1459=)
c.4380T= (p.Ser1460=)
c.4254T= (p.Ser1418=)
c.4374T= (p.Ser1458=)
c.4302T= (p.Ser1434=)
c.1068T= (p.Ser356=)
c.930T= (p.Ser310=)
c.3492T= (p.Ser1164=)
c.4257T= (p.Ser1419=)
c.4446T= (p.Ser1482=)
c.4239T= (p.Ser1413=)
c.942T= (p.Ser314=)
c.987T= (p.Ser329=)
c.4443T= (p.Ser1481=)
c.767T=
c.954T= (p.Ser318=)
c.*4163T= (n.*4163T=)
c.671T=
c.693T= (p.Ser231=)
c.696T= (p.Ser232=)
c.5-12641T= (n.5-12641T=)
c.-43-2071T= (n.-43-2071T=)
c.-98-26402T= (n.-98-26402T=)
n.271T=
n.4516T=
n.4557T=
17g.43076592A>CCA10592779BRCA1c.4377T>G (p.Ser1459Arg)
c.4380T>G (p.Ser1460Arg)
c.4254T>G (p.Ser1418Arg)
c.4374T>G (p.Ser1458Arg)
c.4302T>G (p.Ser1434Arg)
c.1068T>G (p.Ser356Arg)
c.930T>G (p.Ser310Arg)
c.3492T>G (p.Ser1164Arg)
c.4257T>G (p.Ser1419Arg)
c.4446T>G (p.Ser1482Arg)
c.4239T>G (p.Ser1413Arg)
c.942T>G (p.Ser314Arg)
c.987T>G (p.Ser329Arg)
c.4443T>G (p.Ser1481Arg)
c.767T>G
c.954T>G (p.Ser318Arg)
c.*4163T>G (n.*4163T>G)
c.671T>G
c.693T>G (p.Ser231Arg)
c.696T>G (p.Ser232Arg)
c.5-12641T>G (n.5-12641T>G)
c.-43-2071T>G (n.-43-2071T>G)
c.-98-26402T>G (n.-98-26402T>G)
n.271T>G
n.4516T>G
n.4557T>G
17g.43076592A>GCA002809BRCA1c.4377T>C (p.Ser1459=)
c.4380T>C (p.Ser1460=)
c.4254T>C (p.Ser1418=)
c.4374T>C (p.Ser1458=)
c.4302T>C (p.Ser1434=)
c.1068T>C (p.Ser356=)
c.930T>C (p.Ser310=)
c.3492T>C (p.Ser1164=)
c.4257T>C (p.Ser1419=)
c.4446T>C (p.Ser1482=)
c.4239T>C (p.Ser1413=)
c.942T>C (p.Ser314=)
c.987T>C (p.Ser329=)
c.4443T>C (p.Ser1481=)
c.767T>C
c.954T>C (p.Ser318=)
c.*4163T>C (n.*4163T>C)
c.671T>C
c.693T>C (p.Ser231=)
c.696T>C (p.Ser232=)
c.5-12641T>C (n.5-12641T>C)
c.-43-2071T>C (n.-43-2071T>C)
c.-98-26402T>C (n.-98-26402T>C)
n.271T>C
n.4516T>C
n.4557T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43076592A>TCA10592780BRCA1c.4377T>A (p.Ser1459Arg)
c.4380T>A (p.Ser1460Arg)
c.4254T>A (p.Ser1418Arg)
c.4374T>A (p.Ser1458Arg)
c.4302T>A (p.Ser1434Arg)
c.1068T>A (p.Ser356Arg)
c.930T>A (p.Ser310Arg)
c.3492T>A (p.Ser1164Arg)
c.4257T>A (p.Ser1419Arg)
c.4446T>A (p.Ser1482Arg)
c.4239T>A (p.Ser1413Arg)
c.942T>A (p.Ser314Arg)
c.987T>A (p.Ser329Arg)
c.4443T>A (p.Ser1481Arg)
c.767T>A
c.954T>A (p.Ser318Arg)
c.*4163T>A (n.*4163T>A)
c.671T>A
c.693T>A (p.Ser231Arg)
c.696T>A (p.Ser232Arg)
c.5-12641T>A (n.5-12641T>A)
c.-43-2071T>A (n.-43-2071T>A)
c.-98-26402T>A (n.-98-26402T>A)
n.271T>A
n.4516T>A
n.4557T>A
 dbSNP
17g.43076592_43076593delinsACCA2260775540BRCA1c.4376_4377delinsGT (p.Ser1459=)
c.4379_4380delinsGT (p.Ser1460=)
c.4253_4254delinsGT (p.Ser1418=)
c.4373_4374delinsGT (p.Ser1458=)
c.4301_4302delinsGT (p.Ser1434=)
c.1067_1068delinsGT (p.Ser356=)
c.929_930delinsGT (p.Ser310=)
c.3491_3492delinsGT (p.Ser1164=)
c.4256_4257delinsGT (p.Ser1419=)
c.4445_4446delinsGT (p.Ser1482=)
c.4238_4239delinsGT (p.Ser1413=)
c.941_942delinsGT (p.Ser314=)
c.986_987delinsGT (p.Ser329=)
c.4442_4443delinsGT (p.Ser1481=)
c.766_767delinsGT
c.953_954delinsGT (p.Ser318=)
c.*4162_*4163delinsGT (n.*4162_*4163delinsGT)
c.670_671delinsGT
c.692_693delinsGT (p.Ser231=)
c.695_696delinsGT (p.Ser232=)
c.5-12642_5-12641delinsGT (n.5-12642_5-12641delinsGT)
c.-43-2072_-43-2071delinsGT (n.-43-2072_-43-2071delinsGT)
c.-98-26403_-98-26402delinsGT (n.-98-26403_-98-26402delinsGT)
n.270_271delinsGT
n.4515_4516delinsGT
n.4556_4557delinsGT
17g.43076592_43076595delinsACTTCA2260775541BRCA1c.4374_4377delinsAAGT (p.Lys1458=)
c.4377_4380delinsAAGT (p.Lys1459=)
c.4251_4254delinsAAGT (p.Lys1417=)
c.4371_4374delinsAAGT (p.Lys1457=)
c.4299_4302delinsAAGT (p.Lys1433=)
c.1065_1068delinsAAGT (p.Lys355=)
c.927_930delinsAAGT (p.Lys309=)
c.3489_3492delinsAAGT (p.Lys1163=)
c.4254_4257delinsAAGT (p.Lys1418=)
c.4443_4446delinsAAGT (p.Lys1481=)
c.4236_4239delinsAAGT (p.Lys1412=)
c.939_942delinsAAGT (p.Lys313=)
c.984_987delinsAAGT (p.Lys328=)
c.4440_4443delinsAAGT (p.Lys1480=)
c.764_767delinsAAGT
c.951_954delinsAAGT (p.Lys317=)
c.*4160_*4163delinsAAGT (n.*4160_*4163delinsAAGT)
c.668_671delinsAAGT
c.690_693delinsAAGT (p.Lys230=)
c.693_696delinsAAGT (p.Lys231=)
c.5-12644_5-12641delinsAAGT (n.5-12644_5-12641delinsAAGT)
c.-43-2074_-43-2071delinsAAGT (n.-43-2074_-43-2071delinsAAGT)
c.-98-26405_-98-26402delinsAAGT (n.-98-26405_-98-26402delinsAAGT)
n.268_271delinsAAGT
n.4513_4516delinsAAGT
n.4554_4557delinsAAGT
17g.43076593delCA002807BRCA1c.4376del (p.Ser1459IlefsTer6)
c.4379del (p.Ser1460IlefsTer6)
c.4253del (p.Ser1418IlefsTer6)
c.4373del (p.Ser1458IlefsTer6)
c.4301del (p.Ser1434IlefsTer6)
c.1067del (p.Ser356IlefsTer6)
c.929del (p.Ser310IlefsTer6)
c.3491del (p.Ser1164IlefsTer6)
c.4256del (p.Ser1419IlefsTer6)
c.4445del (p.Ser1482IlefsTer6)
c.4238del (p.Ser1413IlefsTer6)
c.941del (p.Ser314IlefsTer6)
c.986del (p.Ser329IlefsTer6)
c.4442del (p.Ser1481IlefsTer6)
c.766del
c.953del (p.Ser318IlefsTer6)
c.*4162del (n.*4162del)
c.670del
c.692del (p.Ser231IlefsTer6)
c.695del (p.Ser232IlefsTer6)
c.5-12642del (n.5-12642del)
c.-43-2072del (n.-43-2072del)
c.-98-26403del (n.-98-26403del)
n.270del
n.4515del
n.4556del
 ClinVar dbSNP
17g.43076593C>ACA10592781BRCA1c.4376G>T (p.Ser1459Ile)
c.4379G>T (p.Ser1460Ile)
c.4253G>T (p.Ser1418Ile)
c.4373G>T (p.Ser1458Ile)
c.4301G>T (p.Ser1434Ile)
c.1067G>T (p.Ser356Ile)
c.929G>T (p.Ser310Ile)
c.3491G>T (p.Ser1164Ile)
c.4256G>T (p.Ser1419Ile)
c.4445G>T (p.Ser1482Ile)
c.4238G>T (p.Ser1413Ile)
c.941G>T (p.Ser314Ile)
c.986G>T (p.Ser329Ile)
c.4442G>T (p.Ser1481Ile)
c.766G>T
c.953G>T (p.Ser318Ile)
c.*4162G>T (n.*4162G>T)
c.670G>T
c.692G>T (p.Ser231Ile)
c.695G>T (p.Ser232Ile)
c.5-12642G>T (n.5-12642G>T)
c.-43-2072G>T (n.-43-2072G>T)
c.-98-26403G>T (n.-98-26403G>T)
n.270G>T
n.4515G>T
n.4556G>T
17g.43076593C=CA2260775542BRCA1c.4376G= (p.Ser1459=)
c.4379G= (p.Ser1460=)
c.4253G= (p.Ser1418=)
c.4373G= (p.Ser1458=)
c.4301G= (p.Ser1434=)
c.1067G= (p.Ser356=)
c.929G= (p.Ser310=)
c.3491G= (p.Ser1164=)
c.4256G= (p.Ser1419=)
c.4445G= (p.Ser1482=)
c.4238G= (p.Ser1413=)
c.941G= (p.Ser314=)
c.986G= (p.Ser329=)
c.4442G= (p.Ser1481=)
c.766G=
c.953G= (p.Ser318=)
c.*4162G= (n.*4162G=)
c.670G=
c.692G= (p.Ser231=)
c.695G= (p.Ser232=)
c.5-12642G= (n.5-12642G=)
c.-43-2072G= (n.-43-2072G=)
c.-98-26403G= (n.-98-26403G=)
n.270G=
n.4515G=
n.4556G=
17g.43076593C>GCA10592782BRCA1c.4376G>C (p.Ser1459Thr)
c.4379G>C (p.Ser1460Thr)
c.4253G>C (p.Ser1418Thr)
c.4373G>C (p.Ser1458Thr)
c.4301G>C (p.Ser1434Thr)
c.1067G>C (p.Ser356Thr)
c.929G>C (p.Ser310Thr)
c.3491G>C (p.Ser1164Thr)
c.4256G>C (p.Ser1419Thr)
c.4445G>C (p.Ser1482Thr)
c.4238G>C (p.Ser1413Thr)
c.941G>C (p.Ser314Thr)
c.986G>C (p.Ser329Thr)
c.4442G>C (p.Ser1481Thr)
c.766G>C
c.953G>C (p.Ser318Thr)
c.*4162G>C (n.*4162G>C)
c.670G>C
c.692G>C (p.Ser231Thr)
c.695G>C (p.Ser232Thr)
c.5-12642G>C (n.5-12642G>C)
c.-43-2072G>C (n.-43-2072G>C)
c.-98-26403G>C (n.-98-26403G>C)
n.270G>C
n.4515G>C
n.4556G>C
 ClinVar
17g.43076593C>TCA002808BRCA1c.4376G>A (p.Ser1459Asn)
c.4379G>A (p.Ser1460Asn)
c.4253G>A (p.Ser1418Asn)
c.4373G>A (p.Ser1458Asn)
c.4301G>A (p.Ser1434Asn)
c.1067G>A (p.Ser356Asn)
c.929G>A (p.Ser310Asn)
c.3491G>A (p.Ser1164Asn)
c.4256G>A (p.Ser1419Asn)
c.4445G>A (p.Ser1482Asn)
c.4238G>A (p.Ser1413Asn)
c.941G>A (p.Ser314Asn)
c.986G>A (p.Ser329Asn)
c.4442G>A (p.Ser1481Asn)
c.766G>A
c.953G>A (p.Ser318Asn)
c.*4162G>A (n.*4162G>A)
c.670G>A
c.692G>A (p.Ser231Asn)
c.695G>A (p.Ser232Asn)
c.5-12642G>A (n.5-12642G>A)
c.-43-2072G>A (n.-43-2072G>A)
c.-98-26403G>A (n.-98-26403G>A)
n.270G>A
n.4515G>A
n.4556G>A
 ClinVar dbSNP gnomAD v4
17g.43076593_43076595delCA916080212BRCA1c.4374_4376del (p.Lys1458_Ser1459delinsAsn)
c.4377_4379del (p.Lys1459_Ser1460delinsAsn)
c.4251_4253del (p.Lys1417_Ser1418delinsAsn)
c.4371_4373del (p.Lys1457_Ser1458delinsAsn)
c.4299_4301del (p.Lys1433_Ser1434delinsAsn)
c.1065_1067del (p.Lys355_Ser356delinsAsn)
c.927_929del (p.Lys309_Ser310delinsAsn)
c.3489_3491del (p.Lys1163_Ser1164delinsAsn)
c.4254_4256del (p.Lys1418_Ser1419delinsAsn)
c.4443_4445del (p.Lys1481_Ser1482delinsAsn)
c.4236_4238del (p.Lys1412_Ser1413delinsAsn)
c.939_941del (p.Lys313_Ser314delinsAsn)
c.984_986del (p.Lys328_Ser329delinsAsn)
c.4440_4442del (p.Lys1480_Ser1481delinsAsn)
c.764_766del
c.951_953del (p.Lys317_Ser318delinsAsn)
c.*4160_*4162del (n.*4160_*4162del)
c.668_670del
c.690_692del (p.Lys230_Ser231delinsAsn)
c.693_695del (p.Lys231_Ser232delinsAsn)
c.5-12644_5-12642del (n.5-12644_5-12642del)
c.-43-2074_-43-2072del (n.-43-2074_-43-2072del)
c.-98-26405_-98-26403del (n.-98-26405_-98-26403del)
n.268_270del
n.4513_4515del
n.4554_4556del
 ClinVar dbSNP gnomAD v4
17g.43076594T>ACA10592783BRCA1c.4375A>T (p.Ser1459Cys)
c.4378A>T (p.Ser1460Cys)
c.4252A>T (p.Ser1418Cys)
c.4372A>T (p.Ser1458Cys)
c.4300A>T (p.Ser1434Cys)
c.1066A>T (p.Ser356Cys)
c.928A>T (p.Ser310Cys)
c.3490A>T (p.Ser1164Cys)
c.4255A>T (p.Ser1419Cys)
c.4444A>T (p.Ser1482Cys)
c.4237A>T (p.Ser1413Cys)
c.940A>T (p.Ser314Cys)
c.985A>T (p.Ser329Cys)
c.4441A>T (p.Ser1481Cys)
c.765A>T
c.952A>T (p.Ser318Cys)
c.*4161A>T (n.*4161A>T)
c.669A>T
c.691A>T (p.Ser231Cys)
c.694A>T (p.Ser232Cys)
c.5-12643A>T (n.5-12643A>T)
c.-43-2073A>T (n.-43-2073A>T)
c.-98-26404A>T (n.-98-26404A>T)
n.269A>T
n.4514A>T
n.4555A>T
 dbSNP
17g.43076594T>CCA10592784BRCA1c.4375A>G (p.Ser1459Gly)
c.4378A>G (p.Ser1460Gly)
c.4252A>G (p.Ser1418Gly)
c.4372A>G (p.Ser1458Gly)
c.4300A>G (p.Ser1434Gly)
c.1066A>G (p.Ser356Gly)
c.928A>G (p.Ser310Gly)
c.3490A>G (p.Ser1164Gly)
c.4255A>G (p.Ser1419Gly)
c.4444A>G (p.Ser1482Gly)
c.4237A>G (p.Ser1413Gly)
c.940A>G (p.Ser314Gly)
c.985A>G (p.Ser329Gly)
c.4441A>G (p.Ser1481Gly)
c.765A>G
c.952A>G (p.Ser318Gly)
c.*4161A>G (n.*4161A>G)
c.669A>G
c.691A>G (p.Ser231Gly)
c.694A>G (p.Ser232Gly)
c.5-12643A>G (n.5-12643A>G)
c.-43-2073A>G (n.-43-2073A>G)
c.-98-26404A>G (n.-98-26404A>G)
n.269A>G
n.4514A>G
n.4555A>G
 dbSNP
17g.43076594T>GCA10592785BRCA1c.4375A>C (p.Ser1459Arg)
c.4378A>C (p.Ser1460Arg)
c.4252A>C (p.Ser1418Arg)
c.4372A>C (p.Ser1458Arg)
c.4300A>C (p.Ser1434Arg)
c.1066A>C (p.Ser356Arg)
c.928A>C (p.Ser310Arg)
c.3490A>C (p.Ser1164Arg)
c.4255A>C (p.Ser1419Arg)
c.4444A>C (p.Ser1482Arg)
c.4237A>C (p.Ser1413Arg)
c.940A>C (p.Ser314Arg)
c.985A>C (p.Ser329Arg)
c.4441A>C (p.Ser1481Arg)
c.765A>C
c.952A>C (p.Ser318Arg)
c.*4161A>C (n.*4161A>C)
c.669A>C
c.691A>C (p.Ser231Arg)
c.694A>C (p.Ser232Arg)
c.5-12643A>C (n.5-12643A>C)
c.-43-2073A>C (n.-43-2073A>C)
c.-98-26404A>C (n.-98-26404A>C)
n.269A>C
n.4514A>C
n.4555A>C
17g.43076595T>ACA10592786BRCA1c.4374A>T (p.Lys1458Asn)
c.4377A>T (p.Lys1459Asn)
c.4251A>T (p.Lys1417Asn)
c.4371A>T (p.Lys1457Asn)
c.4299A>T (p.Lys1433Asn)
c.1065A>T (p.Lys355Asn)
c.927A>T (p.Lys309Asn)
c.3489A>T (p.Lys1163Asn)
c.4254A>T (p.Lys1418Asn)
c.4443A>T (p.Lys1481Asn)
c.4236A>T (p.Lys1412Asn)
c.939A>T (p.Lys313Asn)
c.984A>T (p.Lys328Asn)
c.4440A>T (p.Lys1480Asn)
c.764A>T
c.951A>T (p.Lys317Asn)
c.*4160A>T (n.*4160A>T)
c.668A>T
c.690A>T (p.Lys230Asn)
c.693A>T (p.Lys231Asn)
c.5-12644A>T (n.5-12644A>T)
c.-43-2074A>T (n.-43-2074A>T)
c.-98-26405A>T (n.-98-26405A>T)
n.268A>T
n.4513A>T
n.4554A>T
 ClinVar dbSNP
17g.43076595T>CCA500146861BRCA1c.4374A>G (p.Lys1458=)
c.4377A>G (p.Lys1459=)
c.4251A>G (p.Lys1417=)
c.4371A>G (p.Lys1457=)
c.4299A>G (p.Lys1433=)
c.1065A>G (p.Lys355=)
c.927A>G (p.Lys309=)
c.3489A>G (p.Lys1163=)
c.4254A>G (p.Lys1418=)
c.4443A>G (p.Lys1481=)
c.4236A>G (p.Lys1412=)
c.939A>G (p.Lys313=)
c.984A>G (p.Lys328=)
c.4440A>G (p.Lys1480=)
c.764A>G
c.951A>G (p.Lys317=)
c.*4160A>G (n.*4160A>G)
c.668A>G
c.690A>G (p.Lys230=)
c.693A>G (p.Lys231=)
c.5-12644A>G (n.5-12644A>G)
c.-43-2074A>G (n.-43-2074A>G)
c.-98-26405A>G (n.-98-26405A>G)
n.268A>G
n.4513A>G
n.4554A>G
 gnomAD v4
17g.43076595T>GCA10592787BRCA1c.4374A>C (p.Lys1458Asn)
c.4377A>C (p.Lys1459Asn)
c.4251A>C (p.Lys1417Asn)
c.4371A>C (p.Lys1457Asn)
c.4299A>C (p.Lys1433Asn)
c.1065A>C (p.Lys355Asn)
c.927A>C (p.Lys309Asn)
c.3489A>C (p.Lys1163Asn)
c.4254A>C (p.Lys1418Asn)
c.4443A>C (p.Lys1481Asn)
c.4236A>C (p.Lys1412Asn)
c.939A>C (p.Lys313Asn)
c.984A>C (p.Lys328Asn)
c.4440A>C (p.Lys1480Asn)
c.764A>C
c.951A>C (p.Lys317Asn)
c.*4160A>C (n.*4160A>C)
c.668A>C
c.690A>C (p.Lys230Asn)
c.693A>C (p.Lys231Asn)
c.5-12644A>C (n.5-12644A>C)
c.-43-2074A>C (n.-43-2074A>C)
c.-98-26405A>C (n.-98-26405A>C)
n.268A>C
n.4513A>C
n.4554A>C
17g.43076595T=CA2260775543BRCA1c.4374A= (p.Lys1458=)
c.4377A= (p.Lys1459=)
c.4251A= (p.Lys1417=)
c.4371A= (p.Lys1457=)
c.4299A= (p.Lys1433=)
c.1065A= (p.Lys355=)
c.927A= (p.Lys309=)
c.3489A= (p.Lys1163=)
c.4254A= (p.Lys1418=)
c.4443A= (p.Lys1481=)
c.4236A= (p.Lys1412=)
c.939A= (p.Lys313=)
c.984A= (p.Lys328=)
c.4440A= (p.Lys1480=)
c.764A=
c.951A= (p.Lys317=)
c.*4160A= (n.*4160A=)
c.668A=
c.690A= (p.Lys230=)
c.693A= (p.Lys231=)
c.5-12644A= (n.5-12644A=)
c.-43-2074A= (n.-43-2074A=)
c.-98-26405A= (n.-98-26405A=)
n.268A=
n.4513A=
n.4554A=
17g.43076596T>ACA10592788BRCA1c.4373A>T (p.Lys1458Ile)
c.4376A>T (p.Lys1459Ile)
c.4250A>T (p.Lys1417Ile)
c.4370A>T (p.Lys1457Ile)
c.4298A>T (p.Lys1433Ile)
c.1064A>T (p.Lys355Ile)
c.926A>T (p.Lys309Ile)
c.3488A>T (p.Lys1163Ile)
c.4253A>T (p.Lys1418Ile)
c.4442A>T (p.Lys1481Ile)
c.4235A>T (p.Lys1412Ile)
c.938A>T (p.Lys313Ile)
c.983A>T (p.Lys328Ile)
c.4439A>T (p.Lys1480Ile)
c.763A>T
c.950A>T (p.Lys317Ile)
c.*4159A>T (n.*4159A>T)
c.667A>T
c.689A>T (p.Lys230Ile)
c.692A>T (p.Lys231Ile)
c.5-12645A>T (n.5-12645A>T)
c.-43-2075A>T (n.-43-2075A>T)
c.-98-26406A>T (n.-98-26406A>T)
n.267A>T
n.4512A>T
n.4553A>T
 ClinVar dbSNP
17g.43076596T>CCA10592789BRCA1c.4373A>G (p.Lys1458Arg)
c.4376A>G (p.Lys1459Arg)
c.4250A>G (p.Lys1417Arg)
c.4370A>G (p.Lys1457Arg)
c.4298A>G (p.Lys1433Arg)
c.1064A>G (p.Lys355Arg)
c.926A>G (p.Lys309Arg)
c.3488A>G (p.Lys1163Arg)
c.4253A>G (p.Lys1418Arg)
c.4442A>G (p.Lys1481Arg)
c.4235A>G (p.Lys1412Arg)
c.938A>G (p.Lys313Arg)
c.983A>G (p.Lys328Arg)
c.4439A>G (p.Lys1480Arg)
c.763A>G
c.950A>G (p.Lys317Arg)
c.*4159A>G (n.*4159A>G)
c.667A>G
c.689A>G (p.Lys230Arg)
c.692A>G (p.Lys231Arg)
c.5-12645A>G (n.5-12645A>G)
c.-43-2075A>G (n.-43-2075A>G)
c.-98-26406A>G (n.-98-26406A>G)
n.267A>G
n.4512A>G
n.4553A>G
 ClinVar dbSNP gnomAD v4
17g.43076596T>GCA10592790BRCA1c.4373A>C (p.Lys1458Thr)
c.4376A>C (p.Lys1459Thr)
c.4250A>C (p.Lys1417Thr)
c.4370A>C (p.Lys1457Thr)
c.4298A>C (p.Lys1433Thr)
c.1064A>C (p.Lys355Thr)
c.926A>C (p.Lys309Thr)
c.3488A>C (p.Lys1163Thr)
c.4253A>C (p.Lys1418Thr)
c.4442A>C (p.Lys1481Thr)
c.4235A>C (p.Lys1412Thr)
c.938A>C (p.Lys313Thr)
c.983A>C (p.Lys328Thr)
c.4439A>C (p.Lys1480Thr)
c.763A>C
c.950A>C (p.Lys317Thr)
c.*4159A>C (n.*4159A>C)
c.667A>C
c.689A>C (p.Lys230Thr)
c.692A>C (p.Lys231Thr)
c.5-12645A>C (n.5-12645A>C)
c.-43-2075A>C (n.-43-2075A>C)
c.-98-26406A>C (n.-98-26406A>C)
n.267A>C
n.4512A>C
n.4553A>C
17g.43076596T=CA2260775544BRCA1c.4373A= (p.Lys1458=)
c.4376A= (p.Lys1459=)
c.4250A= (p.Lys1417=)
c.4370A= (p.Lys1457=)
c.4298A= (p.Lys1433=)
c.1064A= (p.Lys355=)
c.926A= (p.Lys309=)
c.3488A= (p.Lys1163=)
c.4253A= (p.Lys1418=)
c.4442A= (p.Lys1481=)
c.4235A= (p.Lys1412=)
c.938A= (p.Lys313=)
c.983A= (p.Lys328=)
c.4439A= (p.Lys1480=)
c.763A=
c.950A= (p.Lys317=)
c.*4159A= (n.*4159A=)
c.667A=
c.689A= (p.Lys230=)
c.692A= (p.Lys231=)
c.5-12645A= (n.5-12645A=)
c.-43-2075A= (n.-43-2075A=)
c.-98-26406A= (n.-98-26406A=)
n.267A=
n.4512A=
n.4553A=
17g.43076597T>ACA10589666BRCA1c.4372A>T (p.Lys1458Ter)
c.4375A>T (p.Lys1459Ter)
c.4249A>T (p.Lys1417Ter)
c.4369A>T (p.Lys1457Ter)
c.4297A>T (p.Lys1433Ter)
c.1063A>T (p.Lys355Ter)
c.925A>T (p.Lys309Ter)
c.3487A>T (p.Lys1163Ter)
c.4252A>T (p.Lys1418Ter)
c.4441A>T (p.Lys1481Ter)
c.4234A>T (p.Lys1412Ter)
c.937A>T (p.Lys313Ter)
c.982A>T (p.Lys328Ter)
c.4438A>T (p.Lys1480Ter)
c.762A>T
c.949A>T (p.Lys317Ter)
c.*4158A>T (n.*4158A>T)
c.666A>T
c.688A>T (p.Lys230Ter)
c.691A>T (p.Lys231Ter)
c.5-12646A>T (n.5-12646A>T)
c.-43-2076A>T (n.-43-2076A>T)
c.-98-26407A>T (n.-98-26407A>T)
n.266A>T
n.4511A>T
n.4552A>T
 ClinVar dbSNP
17g.43076597T>CCA10592791BRCA1c.4372A>G (p.Lys1458Glu)
c.4375A>G (p.Lys1459Glu)
c.4249A>G (p.Lys1417Glu)
c.4369A>G (p.Lys1457Glu)
c.4297A>G (p.Lys1433Glu)
c.1063A>G (p.Lys355Glu)
c.925A>G (p.Lys309Glu)
c.3487A>G (p.Lys1163Glu)
c.4252A>G (p.Lys1418Glu)
c.4441A>G (p.Lys1481Glu)
c.4234A>G (p.Lys1412Glu)
c.937A>G (p.Lys313Glu)
c.982A>G (p.Lys328Glu)
c.4438A>G (p.Lys1480Glu)
c.762A>G
c.949A>G (p.Lys317Glu)
c.*4158A>G (n.*4158A>G)
c.666A>G
c.688A>G (p.Lys230Glu)
c.691A>G (p.Lys231Glu)
c.5-12646A>G (n.5-12646A>G)
c.-43-2076A>G (n.-43-2076A>G)
c.-98-26407A>G (n.-98-26407A>G)
n.266A>G
n.4511A>G
n.4552A>G
 ClinVar dbSNP gnomAD v4
17g.43076597T>GCA10592792BRCA1c.4372A>C (p.Lys1458Gln)
c.4375A>C (p.Lys1459Gln)
c.4249A>C (p.Lys1417Gln)
c.4369A>C (p.Lys1457Gln)
c.4297A>C (p.Lys1433Gln)
c.1063A>C (p.Lys355Gln)
c.925A>C (p.Lys309Gln)
c.3487A>C (p.Lys1163Gln)
c.4252A>C (p.Lys1418Gln)
c.4441A>C (p.Lys1481Gln)
c.4234A>C (p.Lys1412Gln)
c.937A>C (p.Lys313Gln)
c.982A>C (p.Lys328Gln)
c.4438A>C (p.Lys1480Gln)
c.762A>C
c.949A>C (p.Lys317Gln)
c.*4158A>C (n.*4158A>C)
c.666A>C
c.688A>C (p.Lys230Gln)
c.691A>C (p.Lys231Gln)
c.5-12646A>C (n.5-12646A>C)
c.-43-2076A>C (n.-43-2076A>C)
c.-98-26407A>C (n.-98-26407A>C)
n.266A>C
n.4511A>C
n.4552A>C
17g.43076597T=CA2260775545BRCA1c.4372A= (p.Lys1458=)
c.4375A= (p.Lys1459=)
c.4249A= (p.Lys1417=)
c.4369A= (p.Lys1457=)
c.4297A= (p.Lys1433=)
c.1063A= (p.Lys355=)
c.925A= (p.Lys309=)
c.3487A= (p.Lys1163=)
c.4252A= (p.Lys1418=)
c.4441A= (p.Lys1481=)
c.4234A= (p.Lys1412=)
c.937A= (p.Lys313=)
c.982A= (p.Lys328=)
c.4438A= (p.Lys1480=)
c.762A=
c.949A= (p.Lys317=)
c.*4158A= (n.*4158A=)
c.666A=
c.688A= (p.Lys230=)
c.691A= (p.Lys231=)
c.5-12646A= (n.5-12646A=)
c.-43-2076A= (n.-43-2076A=)
c.-98-26407A= (n.-98-26407A=)
n.266A=
n.4511A=
n.4552A=
17g.43076598C>ACA10592793BRCA1c.4371G>T (p.Gln1457His)
c.4374G>T (p.Gln1458His)
c.4248G>T (p.Gln1416His)
c.4368G>T (p.Gln1456His)
c.4296G>T (p.Gln1432His)
c.1062G>T (p.Gln354His)
c.924G>T (p.Gln308His)
c.3486G>T (p.Gln1162His)
c.4251G>T (p.Gln1417His)
c.4440G>T (p.Gln1480His)
c.4233G>T (p.Gln1411His)
c.936G>T (p.Gln312His)
c.981G>T (p.Gln327His)
c.4437G>T (p.Gln1479His)
c.761G>T
c.948G>T (p.Gln316His)
c.*4157G>T (n.*4157G>T)
c.665G>T
c.687G>T (p.Gln229His)
c.690G>T (p.Gln230His)
c.5-12647G>T (n.5-12647G>T)
c.-43-2077G>T (n.-43-2077G>T)
c.-98-26408G>T (n.-98-26408G>T)
n.265G>T
n.4510G>T
n.4551G>T
 dbSNP
17g.43076598C>GCA10592794BRCA1c.4371G>C (p.Gln1457His)
c.4374G>C (p.Gln1458His)
c.4248G>C (p.Gln1416His)
c.4368G>C (p.Gln1456His)
c.4296G>C (p.Gln1432His)
c.1062G>C (p.Gln354His)
c.924G>C (p.Gln308His)
c.3486G>C (p.Gln1162His)
c.4251G>C (p.Gln1417His)
c.4440G>C (p.Gln1480His)
c.4233G>C (p.Gln1411His)
c.936G>C (p.Gln312His)
c.981G>C (p.Gln327His)
c.4437G>C (p.Gln1479His)
c.761G>C
c.948G>C (p.Gln316His)
c.*4157G>C (n.*4157G>C)
c.665G>C
c.687G>C (p.Gln229His)
c.690G>C (p.Gln230His)
c.5-12647G>C (n.5-12647G>C)
c.-43-2077G>C (n.-43-2077G>C)
c.-98-26408G>C (n.-98-26408G>C)
n.265G>C
n.4510G>C
n.4551G>C
 dbSNP
17g.43076598C>TCA500146864BRCA1c.4371G>A (p.Gln1457=)
c.4374G>A (p.Gln1458=)
c.4248G>A (p.Gln1416=)
c.4368G>A (p.Gln1456=)
c.4296G>A (p.Gln1432=)
c.1062G>A (p.Gln354=)
c.924G>A (p.Gln308=)
c.3486G>A (p.Gln1162=)
c.4251G>A (p.Gln1417=)
c.4440G>A (p.Gln1480=)
c.4233G>A (p.Gln1411=)
c.936G>A (p.Gln312=)
c.981G>A (p.Gln327=)
c.4437G>A (p.Gln1479=)
c.761G>A
c.948G>A (p.Gln316=)
c.*4157G>A (n.*4157G>A)
c.665G>A
c.687G>A (p.Gln229=)
c.690G>A (p.Gln230=)
c.5-12647G>A (n.5-12647G>A)
c.-43-2077G>A (n.-43-2077G>A)
c.-98-26408G>A (n.-98-26408G>A)
n.265G>A
n.4510G>A
n.4551G>A
 ClinVar dbSNP
17g.43076598_43076600delinsCTGCA2260775546BRCA1c.4369_4371delinsCAG (p.Gln1457=)
c.4372_4374delinsCAG (p.Gln1458=)
c.4246_4248delinsCAG (p.Gln1416=)
c.4366_4368delinsCAG (p.Gln1456=)
c.4294_4296delinsCAG (p.Gln1432=)
c.1060_1062delinsCAG (p.Gln354=)
c.922_924delinsCAG (p.Gln308=)
c.3484_3486delinsCAG (p.Gln1162=)
c.4249_4251delinsCAG (p.Gln1417=)
c.4438_4440delinsCAG (p.Gln1480=)
c.4231_4233delinsCAG (p.Gln1411=)
c.934_936delinsCAG (p.Gln312=)
c.979_981delinsCAG (p.Gln327=)
c.4435_4437delinsCAG (p.Gln1479=)
c.759_761delinsCAG
c.946_948delinsCAG (p.Gln316=)
c.*4155_*4157delinsCAG (n.*4155_*4157delinsCAG)
c.663_665delinsCAG
c.685_687delinsCAG (p.Gln229=)
c.688_690delinsCAG (p.Gln230=)
c.5-12649_5-12647delinsCAG (n.5-12649_5-12647delinsCAG)
c.-43-2079_-43-2077delinsCAG (n.-43-2079_-43-2077delinsCAG)
c.-98-26410_-98-26408delinsCAG (n.-98-26410_-98-26408delinsCAG)
n.263_265delinsCAG
n.4508_4510delinsCAG
n.4549_4551delinsCAG
17g.43076599T>ACA10592795BRCA1c.4370A>T (p.Gln1457Leu)
c.4373A>T (p.Gln1458Leu)
c.4247A>T (p.Gln1416Leu)
c.4367A>T (p.Gln1456Leu)
c.4295A>T (p.Gln1432Leu)
c.1061A>T (p.Gln354Leu)
c.923A>T (p.Gln308Leu)
c.3485A>T (p.Gln1162Leu)
c.4250A>T (p.Gln1417Leu)
c.4439A>T (p.Gln1480Leu)
c.4232A>T (p.Gln1411Leu)
c.935A>T (p.Gln312Leu)
c.980A>T (p.Gln327Leu)
c.4436A>T (p.Gln1479Leu)
c.760A>T
c.947A>T (p.Gln316Leu)
c.*4156A>T (n.*4156A>T)
c.664A>T
c.686A>T (p.Gln229Leu)
c.689A>T (p.Gln230Leu)
c.5-12648A>T (n.5-12648A>T)
c.-43-2078A>T (n.-43-2078A>T)
c.-98-26409A>T (n.-98-26409A>T)
n.264A>T
n.4509A>T
n.4550A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076599T>CCA10592796BRCA1c.4370A>G (p.Gln1457Arg)
c.4373A>G (p.Gln1458Arg)
c.4247A>G (p.Gln1416Arg)
c.4367A>G (p.Gln1456Arg)
c.4295A>G (p.Gln1432Arg)
c.1061A>G (p.Gln354Arg)
c.923A>G (p.Gln308Arg)
c.3485A>G (p.Gln1162Arg)
c.4250A>G (p.Gln1417Arg)
c.4439A>G (p.Gln1480Arg)
c.4232A>G (p.Gln1411Arg)
c.935A>G (p.Gln312Arg)
c.980A>G (p.Gln327Arg)
c.4436A>G (p.Gln1479Arg)
c.760A>G
c.947A>G (p.Gln316Arg)
c.*4156A>G (n.*4156A>G)
c.664A>G
c.686A>G (p.Gln229Arg)
c.689A>G (p.Gln230Arg)
c.5-12648A>G (n.5-12648A>G)
c.-43-2078A>G (n.-43-2078A>G)
c.-98-26409A>G (n.-98-26409A>G)
n.264A>G
n.4509A>G
n.4550A>G
 dbSNP
17g.43076599T>GCA10592797BRCA1c.4370A>C (p.Gln1457Pro)
c.4373A>C (p.Gln1458Pro)
c.4247A>C (p.Gln1416Pro)
c.4367A>C (p.Gln1456Pro)
c.4295A>C (p.Gln1432Pro)
c.1061A>C (p.Gln354Pro)
c.923A>C (p.Gln308Pro)
c.3485A>C (p.Gln1162Pro)
c.4250A>C (p.Gln1417Pro)
c.4439A>C (p.Gln1480Pro)
c.4232A>C (p.Gln1411Pro)
c.935A>C (p.Gln312Pro)
c.980A>C (p.Gln327Pro)
c.4436A>C (p.Gln1479Pro)
c.760A>C
c.947A>C (p.Gln316Pro)
c.*4156A>C (n.*4156A>C)
c.664A>C
c.686A>C (p.Gln229Pro)
c.689A>C (p.Gln230Pro)
c.5-12648A>C (n.5-12648A>C)
c.-43-2078A>C (n.-43-2078A>C)
c.-98-26409A>C (n.-98-26409A>C)
n.264A>C
n.4509A>C
n.4550A>C
 dbSNP
17g.43076599T=CA2260775547BRCA1c.4370A= (p.Gln1457=)
c.4373A= (p.Gln1458=)
c.4247A= (p.Gln1416=)
c.4367A= (p.Gln1456=)
c.4295A= (p.Gln1432=)
c.1061A= (p.Gln354=)
c.923A= (p.Gln308=)
c.3485A= (p.Gln1162=)
c.4250A= (p.Gln1417=)
c.4439A= (p.Gln1480=)
c.4232A= (p.Gln1411=)
c.935A= (p.Gln312=)
c.980A= (p.Gln327=)
c.4436A= (p.Gln1479=)
c.760A=
c.947A= (p.Gln316=)
c.*4156A= (n.*4156A=)
c.664A=
c.686A= (p.Gln229=)
c.689A= (p.Gln230=)
c.5-12648A= (n.5-12648A=)
c.-43-2078A= (n.-43-2078A=)
c.-98-26409A= (n.-98-26409A=)
n.264A=
n.4509A=
n.4550A=
17g.43076601_43076602delCA10585938BRCA1c.4369_4370del (p.Gln1457GlufsTer3)
c.4372_4373del (p.Gln1458GlufsTer3)
c.4246_4247del (p.Gln1416GlufsTer3)
c.4366_4367del (p.Gln1456GlufsTer3)
c.4294_4295del (p.Gln1432GlufsTer3)
c.1060_1061del (p.Gln354GlufsTer3)
c.922_923del (p.Gln308GlufsTer3)
c.3484_3485del (p.Gln1162GlufsTer3)
c.4249_4250del (p.Gln1417GlufsTer3)
c.4438_4439del (p.Gln1480GlufsTer3)
c.4231_4232del (p.Gln1411GlufsTer3)
c.934_935del (p.Gln312GlufsTer3)
c.979_980del (p.Gln327GlufsTer3)
c.4435_4436del (p.Gln1479GlufsTer3)
c.759_760del
c.946_947del (p.Gln316GlufsTer3)
c.*4155_*4156del (n.*4155_*4156del)
c.663_664del
c.685_686del (p.Gln229GlufsTer3)
c.688_689del (p.Gln230GlufsTer3)
c.5-12649_5-12648del (n.5-12649_5-12648del)
c.-43-2079_-43-2078del (n.-43-2079_-43-2078del)
c.-98-26410_-98-26409del (n.-98-26410_-98-26409del)
n.263_264del
n.4508_4509del
n.4549_4550del
 ClinVar dbSNP
17g.43076600G>ACA002803BRCA1c.4369C>T (p.Gln1457Ter)
c.4372C>T (p.Gln1458Ter)
c.4246C>T (p.Gln1416Ter)
c.4366C>T (p.Gln1456Ter)
c.4294C>T (p.Gln1432Ter)
c.1060C>T (p.Gln354Ter)
c.922C>T (p.Gln308Ter)
c.3484C>T (p.Gln1162Ter)
c.4249C>T (p.Gln1417Ter)
c.4438C>T (p.Gln1480Ter)
c.4231C>T (p.Gln1411Ter)
c.934C>T (p.Gln312Ter)
c.979C>T (p.Gln327Ter)
c.4435C>T (p.Gln1479Ter)
c.759C>T
c.946C>T (p.Gln316Ter)
c.*4155C>T (n.*4155C>T)
c.663C>T
c.685C>T (p.Gln229Ter)
c.688C>T (p.Gln230Ter)
c.5-12649C>T (n.5-12649C>T)
c.-43-2079C>T (n.-43-2079C>T)
c.-98-26410C>T (n.-98-26410C>T)
n.263C>T
n.4508C>T
n.4549C>T
 ClinVar dbSNP gnomAD v4
17g.43076600G>CCA10592798BRCA1c.4369C>G (p.Gln1457Glu)
c.4372C>G (p.Gln1458Glu)
c.4246C>G (p.Gln1416Glu)
c.4366C>G (p.Gln1456Glu)
c.4294C>G (p.Gln1432Glu)
c.1060C>G (p.Gln354Glu)
c.922C>G (p.Gln308Glu)
c.3484C>G (p.Gln1162Glu)
c.4249C>G (p.Gln1417Glu)
c.4438C>G (p.Gln1480Glu)
c.4231C>G (p.Gln1411Glu)
c.934C>G (p.Gln312Glu)
c.979C>G (p.Gln327Glu)
c.4435C>G (p.Gln1479Glu)
c.759C>G
c.946C>G (p.Gln316Glu)
c.*4155C>G (n.*4155C>G)
c.663C>G
c.685C>G (p.Gln229Glu)
c.688C>G (p.Gln230Glu)
c.5-12649C>G (n.5-12649C>G)
c.-43-2079C>G (n.-43-2079C>G)
c.-98-26410C>G (n.-98-26410C>G)
n.263C>G
n.4508C>G
n.4549C>G
 ClinVar dbSNP gnomAD v4
17g.43076600G=CA2260775548BRCA1c.4369C= (p.Gln1457=)
c.4372C= (p.Gln1458=)
c.4246C= (p.Gln1416=)
c.4366C= (p.Gln1456=)
c.4294C= (p.Gln1432=)
c.1060C= (p.Gln354=)
c.922C= (p.Gln308=)
c.3484C= (p.Gln1162=)
c.4249C= (p.Gln1417=)
c.4438C= (p.Gln1480=)
c.4231C= (p.Gln1411=)
c.934C= (p.Gln312=)
c.979C= (p.Gln327=)
c.4435C= (p.Gln1479=)
c.759C=
c.946C= (p.Gln316=)
c.*4155C= (n.*4155C=)
c.663C=
c.685C= (p.Gln229=)
c.688C= (p.Gln230=)
c.5-12649C= (n.5-12649C=)
c.-43-2079C= (n.-43-2079C=)
c.-98-26410C= (n.-98-26410C=)
n.263C=
n.4508C=
n.4549C=
17g.43076600G>TCA10592799BRCA1c.4369C>A (p.Gln1457Lys)
c.4372C>A (p.Gln1458Lys)
c.4246C>A (p.Gln1416Lys)
c.4366C>A (p.Gln1456Lys)
c.4294C>A (p.Gln1432Lys)
c.1060C>A (p.Gln354Lys)
c.922C>A (p.Gln308Lys)
c.3484C>A (p.Gln1162Lys)
c.4249C>A (p.Gln1417Lys)
c.4438C>A (p.Gln1480Lys)
c.4231C>A (p.Gln1411Lys)
c.934C>A (p.Gln312Lys)
c.979C>A (p.Gln327Lys)
c.4435C>A (p.Gln1479Lys)
c.759C>A
c.946C>A (p.Gln316Lys)
c.*4155C>A (n.*4155C>A)
c.663C>A
c.685C>A (p.Gln229Lys)
c.688C>A (p.Gln230Lys)
c.5-12649C>A (n.5-12649C>A)
c.-43-2079C>A (n.-43-2079C>A)
c.-98-26410C>A (n.-98-26410C>A)
n.263C>A
n.4508C>A
n.4549C>A
17g.43076601T>ACA500146870BRCA1c.4368A>T (p.Ser1456=)
c.4371A>T (p.Ser1457=)
c.4245A>T (p.Ser1415=)
c.4365A>T (p.Ser1455=)
c.4293A>T (p.Ser1431=)
c.1059A>T (p.Ser353=)
c.921A>T (p.Ser307=)
c.3483A>T (p.Ser1161=)
c.4248A>T (p.Ser1416=)
c.4437A>T (p.Ser1479=)
c.4230A>T (p.Ser1410=)
c.933A>T (p.Ser311=)
c.978A>T (p.Ser326=)
c.4434A>T (p.Ser1478=)
c.758A>T
c.945A>T (p.Ser315=)
c.*4154A>T (n.*4154A>T)
c.662A>T
c.684A>T (p.Ser228=)
c.687A>T (p.Ser229=)
c.5-12650A>T (n.5-12650A>T)
c.-43-2080A>T (n.-43-2080A>T)
c.-98-26411A>T (n.-98-26411A>T)
n.262A>T
n.4507A>T
n.4548A>T
 dbSNP
17g.43076601T>CCA500146867BRCA1c.4368A>G (p.Ser1456=)
c.4371A>G (p.Ser1457=)
c.4245A>G (p.Ser1415=)
c.4365A>G (p.Ser1455=)
c.4293A>G (p.Ser1431=)
c.1059A>G (p.Ser353=)
c.921A>G (p.Ser307=)
c.3483A>G (p.Ser1161=)
c.4248A>G (p.Ser1416=)
c.4437A>G (p.Ser1479=)
c.4230A>G (p.Ser1410=)
c.933A>G (p.Ser311=)
c.978A>G (p.Ser326=)
c.4434A>G (p.Ser1478=)
c.758A>G
c.945A>G (p.Ser315=)
c.*4154A>G (n.*4154A>G)
c.662A>G
c.684A>G (p.Ser228=)
c.687A>G (p.Ser229=)
c.5-12650A>G (n.5-12650A>G)
c.-43-2080A>G (n.-43-2080A>G)
c.-98-26411A>G (n.-98-26411A>G)
n.262A>G
n.4507A>G
n.4548A>G
 dbSNP
17g.43076601T>GCA500146868BRCA1c.4368A>C (p.Ser1456=)
c.4371A>C (p.Ser1457=)
c.4245A>C (p.Ser1415=)
c.4365A>C (p.Ser1455=)
c.4293A>C (p.Ser1431=)
c.1059A>C (p.Ser353=)
c.921A>C (p.Ser307=)
c.3483A>C (p.Ser1161=)
c.4248A>C (p.Ser1416=)
c.4437A>C (p.Ser1479=)
c.4230A>C (p.Ser1410=)
c.933A>C (p.Ser311=)
c.978A>C (p.Ser326=)
c.4434A>C (p.Ser1478=)
c.758A>C
c.945A>C (p.Ser315=)
c.*4154A>C (n.*4154A>C)
c.662A>C
c.684A>C (p.Ser228=)
c.687A>C (p.Ser229=)
c.5-12650A>C (n.5-12650A>C)
c.-43-2080A>C (n.-43-2080A>C)
c.-98-26411A>C (n.-98-26411A>C)
n.262A>C
n.4507A>C
n.4548A>C
17g.43076602G>ACA10592800BRCA1c.4367C>T (p.Ser1456Leu)
c.4370C>T (p.Ser1457Leu)
c.4244C>T (p.Ser1415Leu)
c.4364C>T (p.Ser1455Leu)
c.4292C>T (p.Ser1431Leu)
c.1058C>T (p.Ser353Leu)
c.920C>T (p.Ser307Leu)
c.3482C>T (p.Ser1161Leu)
c.4247C>T (p.Ser1416Leu)
c.4436C>T (p.Ser1479Leu)
c.4229C>T (p.Ser1410Leu)
c.932C>T (p.Ser311Leu)
c.977C>T (p.Ser326Leu)
c.4433C>T (p.Ser1478Leu)
c.757C>T
c.944C>T (p.Ser315Leu)
c.*4153C>T (n.*4153C>T)
c.661C>T
c.683C>T (p.Ser228Leu)
c.686C>T (p.Ser229Leu)
c.5-12651C>T (n.5-12651C>T)
c.-43-2081C>T (n.-43-2081C>T)
c.-98-26412C>T (n.-98-26412C>T)
n.261C>T
n.4506C>T
n.4547C>T
 ClinVar dbSNP gnomAD v4
17g.43076602G>CCA002802BRCA1c.4367C>G (p.Ser1456Ter)
c.4370C>G (p.Ser1457Ter)
c.4244C>G (p.Ser1415Ter)
c.4364C>G (p.Ser1455Ter)
c.4292C>G (p.Ser1431Ter)
c.1058C>G (p.Ser353Ter)
c.920C>G (p.Ser307Ter)
c.3482C>G (p.Ser1161Ter)
c.4247C>G (p.Ser1416Ter)
c.4436C>G (p.Ser1479Ter)
c.4229C>G (p.Ser1410Ter)
c.932C>G (p.Ser311Ter)
c.977C>G (p.Ser326Ter)
c.4433C>G (p.Ser1478Ter)
c.757C>G
c.944C>G (p.Ser315Ter)
c.*4153C>G (n.*4153C>G)
c.661C>G
c.683C>G (p.Ser228Ter)
c.686C>G (p.Ser229Ter)
c.5-12651C>G (n.5-12651C>G)
c.-43-2081C>G (n.-43-2081C>G)
c.-98-26412C>G (n.-98-26412C>G)
n.261C>G
n.4506C>G
n.4547C>G
 ClinVar dbSNP
17g.43076602G=CA2260775549BRCA1c.4367C= (p.Ser1456=)
c.4370C= (p.Ser1457=)
c.4244C= (p.Ser1415=)
c.4364C= (p.Ser1455=)
c.4292C= (p.Ser1431=)
c.1058C= (p.Ser353=)
c.920C= (p.Ser307=)
c.3482C= (p.Ser1161=)
c.4247C= (p.Ser1416=)
c.4436C= (p.Ser1479=)
c.4229C= (p.Ser1410=)
c.932C= (p.Ser311=)
c.977C= (p.Ser326=)
c.4433C= (p.Ser1478=)
c.757C=
c.944C= (p.Ser315=)
c.*4153C= (n.*4153C=)
c.661C=
c.683C= (p.Ser228=)
c.686C= (p.Ser229=)
c.5-12651C= (n.5-12651C=)
c.-43-2081C= (n.-43-2081C=)
c.-98-26412C= (n.-98-26412C=)
n.261C=
n.4506C=
n.4547C=
17g.43076602G>TCA10583560BRCA1c.4367C>A (p.Ser1456Ter)
c.4370C>A (p.Ser1457Ter)
c.4244C>A (p.Ser1415Ter)
c.4364C>A (p.Ser1455Ter)
c.4292C>A (p.Ser1431Ter)
c.1058C>A (p.Ser353Ter)
c.920C>A (p.Ser307Ter)
c.3482C>A (p.Ser1161Ter)
c.4247C>A (p.Ser1416Ter)
c.4436C>A (p.Ser1479Ter)
c.4229C>A (p.Ser1410Ter)
c.932C>A (p.Ser311Ter)
c.977C>A (p.Ser326Ter)
c.4433C>A (p.Ser1478Ter)
c.757C>A
c.944C>A (p.Ser315Ter)
c.*4153C>A (n.*4153C>A)
c.661C>A
c.683C>A (p.Ser228Ter)
c.686C>A (p.Ser229Ter)
c.5-12651C>A (n.5-12651C>A)
c.-43-2081C>A (n.-43-2081C>A)
c.-98-26412C>A (n.-98-26412C>A)
n.261C>A
n.4506C>A
n.4547C>A
 ClinVar dbSNP
17g.43076603A=CA2260775550BRCA1c.4366T= (p.Ser1456=)
c.4369T= (p.Ser1457=)
c.4243T= (p.Ser1415=)
c.4363T= (p.Ser1455=)
c.4291T= (p.Ser1431=)
c.1057T= (p.Ser353=)
c.919T= (p.Ser307=)
c.3481T= (p.Ser1161=)
c.4246T= (p.Ser1416=)
c.4435T= (p.Ser1479=)
c.4228T= (p.Ser1410=)
c.931T= (p.Ser311=)
c.976T= (p.Ser326=)
c.4432T= (p.Ser1478=)
c.756T=
c.943T= (p.Ser315=)
c.*4152T= (n.*4152T=)
c.660T=
c.682T= (p.Ser228=)
c.685T= (p.Ser229=)
c.5-12652T= (n.5-12652T=)
c.-43-2082T= (n.-43-2082T=)
c.-98-26413T= (n.-98-26413T=)
n.260T=
n.4505T=
n.4546T=
17g.43076603A>CCA10592801BRCA1c.4366T>G (p.Ser1456Ala)
c.4369T>G (p.Ser1457Ala)
c.4243T>G (p.Ser1415Ala)
c.4363T>G (p.Ser1455Ala)
c.4291T>G (p.Ser1431Ala)
c.1057T>G (p.Ser353Ala)
c.919T>G (p.Ser307Ala)
c.3481T>G (p.Ser1161Ala)
c.4246T>G (p.Ser1416Ala)
c.4435T>G (p.Ser1479Ala)
c.4228T>G (p.Ser1410Ala)
c.931T>G (p.Ser311Ala)
c.976T>G (p.Ser326Ala)
c.4432T>G (p.Ser1478Ala)
c.756T>G
c.943T>G (p.Ser315Ala)
c.*4152T>G (n.*4152T>G)
c.660T>G
c.682T>G (p.Ser228Ala)
c.685T>G (p.Ser229Ala)
c.5-12652T>G (n.5-12652T>G)
c.-43-2082T>G (n.-43-2082T>G)
c.-98-26413T>G (n.-98-26413T>G)
n.260T>G
n.4505T>G
n.4546T>G
17g.43076603A>GCA10592802BRCA1c.4366T>C (p.Ser1456Pro)
c.4369T>C (p.Ser1457Pro)
c.4243T>C (p.Ser1415Pro)
c.4363T>C (p.Ser1455Pro)
c.4291T>C (p.Ser1431Pro)
c.1057T>C (p.Ser353Pro)
c.919T>C (p.Ser307Pro)
c.3481T>C (p.Ser1161Pro)
c.4246T>C (p.Ser1416Pro)
c.4435T>C (p.Ser1479Pro)
c.4228T>C (p.Ser1410Pro)
c.931T>C (p.Ser311Pro)
c.976T>C (p.Ser326Pro)
c.4432T>C (p.Ser1478Pro)
c.756T>C
c.943T>C (p.Ser315Pro)
c.*4152T>C (n.*4152T>C)
c.660T>C
c.682T>C (p.Ser228Pro)
c.685T>C (p.Ser229Pro)
c.5-12652T>C (n.5-12652T>C)
c.-43-2082T>C (n.-43-2082T>C)
c.-98-26413T>C (n.-98-26413T>C)
n.260T>C
n.4505T>C
n.4546T>C
 ClinVar
17g.43076603A>TCA10592803BRCA1c.4366T>A (p.Ser1456Thr)
c.4369T>A (p.Ser1457Thr)
c.4243T>A (p.Ser1415Thr)
c.4363T>A (p.Ser1455Thr)
c.4291T>A (p.Ser1431Thr)
c.1057T>A (p.Ser353Thr)
c.919T>A (p.Ser307Thr)
c.3481T>A (p.Ser1161Thr)
c.4246T>A (p.Ser1416Thr)
c.4435T>A (p.Ser1479Thr)
c.4228T>A (p.Ser1410Thr)
c.931T>A (p.Ser311Thr)
c.976T>A (p.Ser326Thr)
c.4432T>A (p.Ser1478Thr)
c.756T>A
c.943T>A (p.Ser315Thr)
c.*4152T>A (n.*4152T>A)
c.660T>A
c.682T>A (p.Ser228Thr)
c.685T>A (p.Ser229Thr)
c.5-12652T>A (n.5-12652T>A)
c.-43-2082T>A (n.-43-2082T>A)
c.-98-26413T>A (n.-98-26413T>A)
n.260T>A
n.4505T>A
n.4546T>A
17g.43076605_43076609delCA2580094445BRCA1c.4362_4366del (p.Leu1454PhefsTer5)
c.4365_4369del (p.Leu1455PhefsTer5)
c.4239_4243del (p.Leu1413PhefsTer5)
c.4359_4363del (p.Leu1453PhefsTer5)
c.4287_4291del (p.Leu1429PhefsTer5)
c.1053_1057del (p.Leu351PhefsTer5)
c.915_919del (p.Leu305PhefsTer5)
c.3477_3481del (p.Leu1159PhefsTer5)
c.4242_4246del (p.Leu1414PhefsTer5)
c.4431_4435del (p.Leu1477PhefsTer5)
c.4224_4228del (p.Leu1408PhefsTer5)
c.927_931del (p.Leu309PhefsTer5)
c.972_976del (p.Leu324PhefsTer5)
c.4428_4432del (p.Leu1476PhefsTer5)
c.752_756del
c.939_943del (p.Leu313PhefsTer5)
c.*4148_*4152del (n.*4148_*4152del)
c.656_660del
c.678_682del (p.Leu226PhefsTer5)
c.681_685del (p.Leu227PhefsTer5)
c.5-12656_5-12652del (n.5-12656_5-12652del)
c.-43-2086_-43-2082del (n.-43-2086_-43-2082del)
c.-98-26417_-98-26413del (n.-98-26417_-98-26413del)
n.256_260del
n.4501_4505del
n.4542_4546del
 ClinVar
17g.43076604A=CA2260775551BRCA1c.4365T= (p.Thr1455=)
c.4368T= (p.Thr1456=)
c.4242T= (p.Thr1414=)
c.4362T= (p.Thr1454=)
c.4290T= (p.Thr1430=)
c.1056T= (p.Thr352=)
c.918T= (p.Thr306=)
c.3480T= (p.Thr1160=)
c.4245T= (p.Thr1415=)
c.4434T= (p.Thr1478=)
c.4227T= (p.Thr1409=)
c.930T= (p.Thr310=)
c.975T= (p.Thr325=)
c.4431T= (p.Thr1477=)
c.755T=
c.942T= (p.Thr314=)
c.*4151T= (n.*4151T=)
c.659T=
c.681T= (p.Thr227=)
c.684T= (p.Thr228=)
c.5-12653T= (n.5-12653T=)
c.-43-2083T= (n.-43-2083T=)
c.-98-26414T= (n.-98-26414T=)
n.259T=
n.4504T=
n.4545T=
17g.43076604A>CCA500146871BRCA1c.4365T>G (p.Thr1455=)
c.4368T>G (p.Thr1456=)
c.4242T>G (p.Thr1414=)
c.4362T>G (p.Thr1454=)
c.4290T>G (p.Thr1430=)
c.1056T>G (p.Thr352=)
c.918T>G (p.Thr306=)
c.3480T>G (p.Thr1160=)
c.4245T>G (p.Thr1415=)
c.4434T>G (p.Thr1478=)
c.4227T>G (p.Thr1409=)
c.930T>G (p.Thr310=)
c.975T>G (p.Thr325=)
c.4431T>G (p.Thr1477=)
c.755T>G
c.942T>G (p.Thr314=)
c.*4151T>G (n.*4151T>G)
c.659T>G
c.681T>G (p.Thr227=)
c.684T>G (p.Thr228=)
c.5-12653T>G (n.5-12653T>G)
c.-43-2083T>G (n.-43-2083T>G)
c.-98-26414T>G (n.-98-26414T>G)
n.259T>G
n.4504T>G
n.4545T>G
 ClinVar dbSNP
17g.43076604A>GCA500146873BRCA1c.4365T>C (p.Thr1455=)
c.4368T>C (p.Thr1456=)
c.4242T>C (p.Thr1414=)
c.4362T>C (p.Thr1454=)
c.4290T>C (p.Thr1430=)
c.1056T>C (p.Thr352=)
c.918T>C (p.Thr306=)
c.3480T>C (p.Thr1160=)
c.4245T>C (p.Thr1415=)
c.4434T>C (p.Thr1478=)
c.4227T>C (p.Thr1409=)
c.930T>C (p.Thr310=)
c.975T>C (p.Thr325=)
c.4431T>C (p.Thr1477=)
c.755T>C
c.942T>C (p.Thr314=)
c.*4151T>C (n.*4151T>C)
c.659T>C
c.681T>C (p.Thr227=)
c.684T>C (p.Thr228=)
c.5-12653T>C (n.5-12653T>C)
c.-43-2083T>C (n.-43-2083T>C)
c.-98-26414T>C (n.-98-26414T>C)
n.259T>C
n.4504T>C
n.4545T>C
 dbSNP
17g.43076604A>TCA500146874BRCA1c.4365T>A (p.Thr1455=)
c.4368T>A (p.Thr1456=)
c.4242T>A (p.Thr1414=)
c.4362T>A (p.Thr1454=)
c.4290T>A (p.Thr1430=)
c.1056T>A (p.Thr352=)
c.918T>A (p.Thr306=)
c.3480T>A (p.Thr1160=)
c.4245T>A (p.Thr1415=)
c.4434T>A (p.Thr1478=)
c.4227T>A (p.Thr1409=)
c.930T>A (p.Thr310=)
c.975T>A (p.Thr325=)
c.4431T>A (p.Thr1477=)
c.755T>A
c.942T>A (p.Thr314=)
c.*4151T>A (n.*4151T>A)
c.659T>A
c.681T>A (p.Thr227=)
c.684T>A (p.Thr228=)
c.5-12653T>A (n.5-12653T>A)
c.-43-2083T>A (n.-43-2083T>A)
c.-98-26414T>A (n.-98-26414T>A)
n.259T>A
n.4504T>A
n.4545T>A
17g.43076605delCA2830782548BRCA1c.4364del (p.Thr1455IlefsTer10)
c.4367del (p.Thr1456IlefsTer10)
c.4241del (p.Thr1414IlefsTer10)
c.4361del (p.Thr1454IlefsTer10)
c.4289del (p.Thr1430IlefsTer10)
c.1055del (p.Thr352IlefsTer10)
c.917del (p.Thr306IlefsTer10)
c.3479del (p.Thr1160IlefsTer10)
c.4244del (p.Thr1415IlefsTer10)
c.4433del (p.Thr1478IlefsTer10)
c.4226del (p.Thr1409IlefsTer10)
c.929del (p.Thr310IlefsTer10)
c.974del (p.Thr325IlefsTer10)
c.4430del (p.Thr1477IlefsTer10)
c.754del
c.941del (p.Thr314IlefsTer10)
c.*4150del (n.*4150del)
c.658del
c.680del (p.Thr227IlefsTer10)
c.683del (p.Thr228IlefsTer10)
c.5-12654del (n.5-12654del)
c.-43-2084del (n.-43-2084del)
c.-98-26415del (n.-98-26415del)
n.258del
n.4503del
n.4544del
17g.43076605G>ACA10592804BRCA1c.4364C>T (p.Thr1455Ile)
c.4367C>T (p.Thr1456Ile)
c.4241C>T (p.Thr1414Ile)
c.4361C>T (p.Thr1454Ile)
c.4289C>T (p.Thr1430Ile)
c.1055C>T (p.Thr352Ile)
c.917C>T (p.Thr306Ile)
c.3479C>T (p.Thr1160Ile)
c.4244C>T (p.Thr1415Ile)
c.4433C>T (p.Thr1478Ile)
c.4226C>T (p.Thr1409Ile)
c.929C>T (p.Thr310Ile)
c.974C>T (p.Thr325Ile)
c.4430C>T (p.Thr1477Ile)
c.754C>T
c.941C>T (p.Thr314Ile)
c.*4150C>T (n.*4150C>T)
c.658C>T
c.680C>T (p.Thr227Ile)
c.683C>T (p.Thr228Ile)
c.5-12654C>T (n.5-12654C>T)
c.-43-2084C>T (n.-43-2084C>T)
c.-98-26415C>T (n.-98-26415C>T)
n.258C>T
n.4503C>T
n.4544C>T
 ClinVar dbSNP
17g.43076605G>CCA10592805BRCA1c.4364C>G (p.Thr1455Ser)
c.4367C>G (p.Thr1456Ser)
c.4241C>G (p.Thr1414Ser)
c.4361C>G (p.Thr1454Ser)
c.4289C>G (p.Thr1430Ser)
c.1055C>G (p.Thr352Ser)
c.917C>G (p.Thr306Ser)
c.3479C>G (p.Thr1160Ser)
c.4244C>G (p.Thr1415Ser)
c.4433C>G (p.Thr1478Ser)
c.4226C>G (p.Thr1409Ser)
c.929C>G (p.Thr310Ser)
c.974C>G (p.Thr325Ser)
c.4430C>G (p.Thr1477Ser)
c.754C>G
c.941C>G (p.Thr314Ser)
c.*4150C>G (n.*4150C>G)
c.658C>G
c.680C>G (p.Thr227Ser)
c.683C>G (p.Thr228Ser)
c.5-12654C>G (n.5-12654C>G)
c.-43-2084C>G (n.-43-2084C>G)
c.-98-26415C>G (n.-98-26415C>G)
n.258C>G
n.4503C>G
n.4544C>G
 dbSNP
17g.43076605G=CA2260775552BRCA1c.4364C= (p.Thr1455=)
c.4367C= (p.Thr1456=)
c.4241C= (p.Thr1414=)
c.4361C= (p.Thr1454=)
c.4289C= (p.Thr1430=)
c.1055C= (p.Thr352=)
c.917C= (p.Thr306=)
c.3479C= (p.Thr1160=)
c.4244C= (p.Thr1415=)
c.4433C= (p.Thr1478=)
c.4226C= (p.Thr1409=)
c.929C= (p.Thr310=)
c.974C= (p.Thr325=)
c.4430C= (p.Thr1477=)
c.754C=
c.941C= (p.Thr314=)
c.*4150C= (n.*4150C=)
c.658C=
c.680C= (p.Thr227=)
c.683C= (p.Thr228=)
c.5-12654C= (n.5-12654C=)
c.-43-2084C= (n.-43-2084C=)
c.-98-26415C= (n.-98-26415C=)
n.258C=
n.4503C=
n.4544C=
17g.43076605G>TCA10592806BRCA1c.4364C>A (p.Thr1455Asn)
c.4367C>A (p.Thr1456Asn)
c.4241C>A (p.Thr1414Asn)
c.4361C>A (p.Thr1454Asn)
c.4289C>A (p.Thr1430Asn)
c.1055C>A (p.Thr352Asn)
c.917C>A (p.Thr306Asn)
c.3479C>A (p.Thr1160Asn)
c.4244C>A (p.Thr1415Asn)
c.4433C>A (p.Thr1478Asn)
c.4226C>A (p.Thr1409Asn)
c.929C>A (p.Thr310Asn)
c.974C>A (p.Thr325Asn)
c.4430C>A (p.Thr1477Asn)
c.754C>A
c.941C>A (p.Thr314Asn)
c.*4150C>A (n.*4150C>A)
c.658C>A
c.680C>A (p.Thr227Asn)
c.683C>A (p.Thr228Asn)
c.5-12654C>A (n.5-12654C>A)
c.-43-2084C>A (n.-43-2084C>A)
c.-98-26415C>A (n.-98-26415C>A)
n.258C>A
n.4503C>A
n.4544C>A
 dbSNP
17g.43076606T>ACA10592807BRCA1c.4363A>T (p.Thr1455Ser)
c.4366A>T (p.Thr1456Ser)
c.4240A>T (p.Thr1414Ser)
c.4360A>T (p.Thr1454Ser)
c.4288A>T (p.Thr1430Ser)
c.1054A>T (p.Thr352Ser)
c.916A>T (p.Thr306Ser)
c.3478A>T (p.Thr1160Ser)
c.4243A>T (p.Thr1415Ser)
c.4432A>T (p.Thr1478Ser)
c.4225A>T (p.Thr1409Ser)
c.928A>T (p.Thr310Ser)
c.973A>T (p.Thr325Ser)
c.4429A>T (p.Thr1477Ser)
c.753A>T
c.940A>T (p.Thr314Ser)
c.*4149A>T (n.*4149A>T)
c.657A>T
c.679A>T (p.Thr227Ser)
c.682A>T (p.Thr228Ser)
c.5-12655A>T (n.5-12655A>T)
c.-43-2085A>T (n.-43-2085A>T)
c.-98-26416A>T (n.-98-26416A>T)
n.257A>T
n.4502A>T
n.4543A>T
 dbSNP
17g.43076606T>CCA002801BRCA1c.4363A>G (p.Thr1455Ala)
c.4366A>G (p.Thr1456Ala)
c.4240A>G (p.Thr1414Ala)
c.4360A>G (p.Thr1454Ala)
c.4288A>G (p.Thr1430Ala)
c.1054A>G (p.Thr352Ala)
c.916A>G (p.Thr306Ala)
c.3478A>G (p.Thr1160Ala)
c.4243A>G (p.Thr1415Ala)
c.4432A>G (p.Thr1478Ala)
c.4225A>G (p.Thr1409Ala)
c.928A>G (p.Thr310Ala)
c.973A>G (p.Thr325Ala)
c.4429A>G (p.Thr1477Ala)
c.753A>G
c.940A>G (p.Thr314Ala)
c.*4149A>G (n.*4149A>G)
c.657A>G
c.679A>G (p.Thr227Ala)
c.682A>G (p.Thr228Ala)
c.5-12655A>G (n.5-12655A>G)
c.-43-2085A>G (n.-43-2085A>G)
c.-98-26416A>G (n.-98-26416A>G)
n.257A>G
n.4502A>G
n.4543A>G
 ClinVar dbSNP
17g.43076606T>GCA10592808BRCA1c.4363A>C (p.Thr1455Pro)
c.4366A>C (p.Thr1456Pro)
c.4240A>C (p.Thr1414Pro)
c.4360A>C (p.Thr1454Pro)
c.4288A>C (p.Thr1430Pro)
c.1054A>C (p.Thr352Pro)
c.916A>C (p.Thr306Pro)
c.3478A>C (p.Thr1160Pro)
c.4243A>C (p.Thr1415Pro)
c.4432A>C (p.Thr1478Pro)
c.4225A>C (p.Thr1409Pro)
c.928A>C (p.Thr310Pro)
c.973A>C (p.Thr325Pro)
c.4429A>C (p.Thr1477Pro)
c.753A>C
c.940A>C (p.Thr314Pro)
c.*4149A>C (n.*4149A>C)
c.657A>C
c.679A>C (p.Thr227Pro)
c.682A>C (p.Thr228Pro)
c.5-12655A>C (n.5-12655A>C)
c.-43-2085A>C (n.-43-2085A>C)
c.-98-26416A>C (n.-98-26416A>C)
n.257A>C
n.4502A>C
n.4543A>C
17g.43076606T=CA2260775553BRCA1c.4363A= (p.Thr1455=)
c.4366A= (p.Thr1456=)
c.4240A= (p.Thr1414=)
c.4360A= (p.Thr1454=)
c.4288A= (p.Thr1430=)
c.1054A= (p.Thr352=)
c.916A= (p.Thr306=)
c.3478A= (p.Thr1160=)
c.4243A= (p.Thr1415=)
c.4432A= (p.Thr1478=)
c.4225A= (p.Thr1409=)
c.928A= (p.Thr310=)
c.973A= (p.Thr325=)
c.4429A= (p.Thr1477=)
c.753A=
c.940A= (p.Thr314=)
c.*4149A= (n.*4149A=)
c.657A=
c.679A= (p.Thr227=)
c.682A= (p.Thr228=)
c.5-12655A= (n.5-12655A=)
c.-43-2085A= (n.-43-2085A=)
c.-98-26416A= (n.-98-26416A=)
n.257A=
n.4502A=
n.4543A=
17g.43076607T>ACA10592809BRCA1c.4362A>T (p.Leu1454Phe)
c.4365A>T (p.Leu1455Phe)
c.4239A>T (p.Leu1413Phe)
c.4359A>T (p.Leu1453Phe)
c.4287A>T (p.Leu1429Phe)
c.1053A>T (p.Leu351Phe)
c.915A>T (p.Leu305Phe)
c.3477A>T (p.Leu1159Phe)
c.4242A>T (p.Leu1414Phe)
c.4431A>T (p.Leu1477Phe)
c.4224A>T (p.Leu1408Phe)
c.927A>T (p.Leu309Phe)
c.972A>T (p.Leu324Phe)
c.4428A>T (p.Leu1476Phe)
c.752A>T
c.939A>T (p.Leu313Phe)
c.*4148A>T (n.*4148A>T)
c.656A>T
c.678A>T (p.Leu226Phe)
c.681A>T (p.Leu227Phe)
c.5-12656A>T (n.5-12656A>T)
c.-43-2086A>T (n.-43-2086A>T)
c.-98-26417A>T (n.-98-26417A>T)
n.256A>T
n.4501A>T
n.4542A>T
 dbSNP
17g.43076607T>CCA500146876BRCA1c.4362A>G (p.Leu1454=)
c.4365A>G (p.Leu1455=)
c.4239A>G (p.Leu1413=)
c.4359A>G (p.Leu1453=)
c.4287A>G (p.Leu1429=)
c.1053A>G (p.Leu351=)
c.915A>G (p.Leu305=)
c.3477A>G (p.Leu1159=)
c.4242A>G (p.Leu1414=)
c.4431A>G (p.Leu1477=)
c.4224A>G (p.Leu1408=)
c.927A>G (p.Leu309=)
c.972A>G (p.Leu324=)
c.4428A>G (p.Leu1476=)
c.752A>G
c.939A>G (p.Leu313=)
c.*4148A>G (n.*4148A>G)
c.656A>G
c.678A>G (p.Leu226=)
c.681A>G (p.Leu227=)
c.5-12656A>G (n.5-12656A>G)
c.-43-2086A>G (n.-43-2086A>G)
c.-98-26417A>G (n.-98-26417A>G)
n.256A>G
n.4501A>G
n.4542A>G
 dbSNP
17g.43076607T>GCA10592810BRCA1c.4362A>C (p.Leu1454Phe)
c.4365A>C (p.Leu1455Phe)
c.4239A>C (p.Leu1413Phe)
c.4359A>C (p.Leu1453Phe)
c.4287A>C (p.Leu1429Phe)
c.1053A>C (p.Leu351Phe)
c.915A>C (p.Leu305Phe)
c.3477A>C (p.Leu1159Phe)
c.4242A>C (p.Leu1414Phe)
c.4431A>C (p.Leu1477Phe)
c.4224A>C (p.Leu1408Phe)
c.927A>C (p.Leu309Phe)
c.972A>C (p.Leu324Phe)
c.4428A>C (p.Leu1476Phe)
c.752A>C
c.939A>C (p.Leu313Phe)
c.*4148A>C (n.*4148A>C)
c.656A>C
c.678A>C (p.Leu226Phe)
c.681A>C (p.Leu227Phe)
c.5-12656A>C (n.5-12656A>C)
c.-43-2086A>C (n.-43-2086A>C)
c.-98-26417A>C (n.-98-26417A>C)
n.256A>C
n.4501A>C
n.4542A>C
 ClinVar
17g.43076608A=CA2260775554BRCA1c.4361T= (p.Leu1454=)
c.4364T= (p.Leu1455=)
c.4238T= (p.Leu1413=)
c.4358T= (p.Leu1453=)
c.4286T= (p.Leu1429=)
c.1052T= (p.Leu351=)
c.914T= (p.Leu305=)
c.3476T= (p.Leu1159=)
c.4241T= (p.Leu1414=)
c.4430T= (p.Leu1477=)
c.4223T= (p.Leu1408=)
c.926T= (p.Leu309=)
c.971T= (p.Leu324=)
c.4427T= (p.Leu1476=)
c.751T=
c.938T= (p.Leu313=)
c.*4147T= (n.*4147T=)
c.655T=
c.677T= (p.Leu226=)
c.680T= (p.Leu227=)
c.5-12657T= (n.5-12657T=)
c.-43-2087T= (n.-43-2087T=)
c.-98-26418T= (n.-98-26418T=)
n.255T=
n.4500T=
n.4541T=
17g.43076608A>CCA10589667BRCA1c.4361T>G (p.Leu1454Ter)
c.4364T>G (p.Leu1455Ter)
c.4238T>G (p.Leu1413Ter)
c.4358T>G (p.Leu1453Ter)
c.4286T>G (p.Leu1429Ter)
c.1052T>G (p.Leu351Ter)
c.914T>G (p.Leu305Ter)
c.3476T>G (p.Leu1159Ter)
c.4241T>G (p.Leu1414Ter)
c.4430T>G (p.Leu1477Ter)
c.4223T>G (p.Leu1408Ter)
c.926T>G (p.Leu309Ter)
c.971T>G (p.Leu324Ter)
c.4427T>G (p.Leu1476Ter)
c.751T>G
c.938T>G (p.Leu313Ter)
c.*4147T>G (n.*4147T>G)
c.655T>G
c.677T>G (p.Leu226Ter)
c.680T>G (p.Leu227Ter)
c.5-12657T>G (n.5-12657T>G)
c.-43-2087T>G (n.-43-2087T>G)
c.-98-26418T>G (n.-98-26418T>G)
n.255T>G
n.4500T>G
n.4541T>G
 ClinVar dbSNP gnomAD v4
17g.43076608A>GCA10592811BRCA1c.4361T>C (p.Leu1454Ser)
c.4364T>C (p.Leu1455Ser)
c.4238T>C (p.Leu1413Ser)
c.4358T>C (p.Leu1453Ser)
c.4286T>C (p.Leu1429Ser)
c.1052T>C (p.Leu351Ser)
c.914T>C (p.Leu305Ser)
c.3476T>C (p.Leu1159Ser)
c.4241T>C (p.Leu1414Ser)
c.4430T>C (p.Leu1477Ser)
c.4223T>C (p.Leu1408Ser)
c.926T>C (p.Leu309Ser)
c.971T>C (p.Leu324Ser)
c.4427T>C (p.Leu1476Ser)
c.751T>C
c.938T>C (p.Leu313Ser)
c.*4147T>C (n.*4147T>C)
c.655T>C
c.677T>C (p.Leu226Ser)
c.680T>C (p.Leu227Ser)
c.5-12657T>C (n.5-12657T>C)
c.-43-2087T>C (n.-43-2087T>C)
c.-98-26418T>C (n.-98-26418T>C)
n.255T>C
n.4500T>C
n.4541T>C
 ClinVar
17g.43076608A>TCA10592812BRCA1c.4361T>A (p.Leu1454Ter)
c.4364T>A (p.Leu1455Ter)
c.4238T>A (p.Leu1413Ter)
c.4358T>A (p.Leu1453Ter)
c.4286T>A (p.Leu1429Ter)
c.1052T>A (p.Leu351Ter)
c.914T>A (p.Leu305Ter)
c.3476T>A (p.Leu1159Ter)
c.4241T>A (p.Leu1414Ter)
c.4430T>A (p.Leu1477Ter)
c.4223T>A (p.Leu1408Ter)
c.926T>A (p.Leu309Ter)
c.971T>A (p.Leu324Ter)
c.4427T>A (p.Leu1476Ter)
c.751T>A
c.938T>A (p.Leu313Ter)
c.*4147T>A (n.*4147T>A)
c.655T>A
c.677T>A (p.Leu226Ter)
c.680T>A (p.Leu227Ter)
c.5-12657T>A (n.5-12657T>A)
c.-43-2087T>A (n.-43-2087T>A)
c.-98-26418T>A (n.-98-26418T>A)
n.255T>A
n.4500T>A
n.4541T>A
 dbSNP
17g.43076609delCA2580094446BRCA1c.4361del (p.Leu1454Ter)
c.4364del (p.Leu1455Ter)
c.4238del (p.Leu1413Ter)
c.4358del (p.Leu1453Ter)
c.4286del (p.Leu1429Ter)
c.1052del (p.Leu351Ter)
c.914del (p.Leu305Ter)
c.3476del (p.Leu1159Ter)
c.4241del (p.Leu1414Ter)
c.4430del (p.Leu1477Ter)
c.4223del (p.Leu1408Ter)
c.926del (p.Leu309Ter)
c.971del (p.Leu324Ter)
c.4427del (p.Leu1476Ter)
c.751del
c.938del (p.Leu313Ter)
c.*4147del (n.*4147del)
c.655del
c.677del (p.Leu226Ter)
c.680del (p.Leu227Ter)
c.5-12657del (n.5-12657del)
c.-43-2087del (n.-43-2087del)
c.-98-26418del (n.-98-26418del)
n.255del
n.4500del
n.4541del
 ClinVar
17g.43076609A>CCA10592813BRCA1c.4360T>G (p.Leu1454Val)
c.4363T>G (p.Leu1455Val)
c.4237T>G (p.Leu1413Val)
c.4357T>G (p.Leu1453Val)
c.4285T>G (p.Leu1429Val)
c.1051T>G (p.Leu351Val)
c.913T>G (p.Leu305Val)
c.3475T>G (p.Leu1159Val)
c.4240T>G (p.Leu1414Val)
c.4429T>G (p.Leu1477Val)
c.4222T>G (p.Leu1408Val)
c.925T>G (p.Leu309Val)
c.970T>G (p.Leu324Val)
c.4426T>G (p.Leu1476Val)
c.750T>G
c.937T>G (p.Leu313Val)
c.*4146T>G (n.*4146T>G)
c.654T>G
c.676T>G (p.Leu226Val)
c.679T>G (p.Leu227Val)
c.5-12658T>G (n.5-12658T>G)
c.-43-2088T>G (n.-43-2088T>G)
c.-98-26419T>G (n.-98-26419T>G)
n.254T>G
n.4499T>G
n.4540T>G
17g.43076609A>GCA500146878BRCA1c.4360T>C (p.Leu1454=)
c.4363T>C (p.Leu1455=)
c.4237T>C (p.Leu1413=)
c.4357T>C (p.Leu1453=)
c.4285T>C (p.Leu1429=)
c.1051T>C (p.Leu351=)
c.913T>C (p.Leu305=)
c.3475T>C (p.Leu1159=)
c.4240T>C (p.Leu1414=)
c.4429T>C (p.Leu1477=)
c.4222T>C (p.Leu1408=)
c.925T>C (p.Leu309=)
c.970T>C (p.Leu324=)
c.4426T>C (p.Leu1476=)
c.750T>C
c.937T>C (p.Leu313=)
c.*4146T>C (n.*4146T>C)
c.654T>C
c.676T>C (p.Leu226=)
c.679T>C (p.Leu227=)
c.5-12658T>C (n.5-12658T>C)
c.-43-2088T>C (n.-43-2088T>C)
c.-98-26419T>C (n.-98-26419T>C)
n.254T>C
n.4499T>C
n.4540T>C
17g.43076609A>TCA10592814BRCA1c.4360T>A (p.Leu1454Ile)
c.4363T>A (p.Leu1455Ile)
c.4237T>A (p.Leu1413Ile)
c.4357T>A (p.Leu1453Ile)
c.4285T>A (p.Leu1429Ile)
c.1051T>A (p.Leu351Ile)
c.913T>A (p.Leu305Ile)
c.3475T>A (p.Leu1159Ile)
c.4240T>A (p.Leu1414Ile)
c.4429T>A (p.Leu1477Ile)
c.4222T>A (p.Leu1408Ile)
c.925T>A (p.Leu309Ile)
c.970T>A (p.Leu324Ile)
c.4426T>A (p.Leu1476Ile)
c.750T>A
c.937T>A (p.Leu313Ile)
c.*4146T>A (n.*4146T>A)
c.654T>A
c.676T>A (p.Leu226Ile)
c.679T>A (p.Leu227Ile)
c.5-12658T>A (n.5-12658T>A)
c.-43-2088T>A (n.-43-2088T>A)
c.-98-26419T>A (n.-98-26419T>A)
n.254T>A
n.4499T>A
n.4540T>A
17g.43076610T>ACA500146880BRCA1c.4359A>T (p.Val1453=)
c.4362A>T (p.Val1454=)
c.4236A>T (p.Val1412=)
c.4356A>T (p.Val1452=)
c.4284A>T (p.Val1428=)
c.1050A>T (p.Val350=)
c.912A>T (p.Val304=)
c.3474A>T (p.Val1158=)
c.4239A>T (p.Val1413=)
c.4428A>T (p.Val1476=)
c.4221A>T (p.Val1407=)
c.924A>T (p.Val308=)
c.969A>T (p.Val323=)
c.4425A>T (p.Val1475=)
c.749A>T
c.936A>T (p.Val312=)
c.*4145A>T (n.*4145A>T)
c.653A>T
c.675A>T (p.Val225=)
c.678A>T (p.Val226=)
c.5-12659A>T (n.5-12659A>T)
c.-43-2089A>T (n.-43-2089A>T)
c.-98-26420A>T (n.-98-26420A>T)
n.253A>T
n.4498A>T
n.4539A>T
 ClinVar dbSNP gnomAD v4
17g.43076610T>CCA500146883BRCA1c.4359A>G (p.Val1453=)
c.4362A>G (p.Val1454=)
c.4236A>G (p.Val1412=)
c.4356A>G (p.Val1452=)
c.4284A>G (p.Val1428=)
c.1050A>G (p.Val350=)
c.912A>G (p.Val304=)
c.3474A>G (p.Val1158=)
c.4239A>G (p.Val1413=)
c.4428A>G (p.Val1476=)
c.4221A>G (p.Val1407=)
c.924A>G (p.Val308=)
c.969A>G (p.Val323=)
c.4425A>G (p.Val1475=)
c.749A>G
c.936A>G (p.Val312=)
c.*4145A>G (n.*4145A>G)
c.653A>G
c.675A>G (p.Val225=)
c.678A>G (p.Val226=)
c.5-12659A>G (n.5-12659A>G)
c.-43-2089A>G (n.-43-2089A>G)
c.-98-26420A>G (n.-98-26420A>G)
n.253A>G
n.4498A>G
n.4539A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43076610T>GCA500146882BRCA1c.4359A>C (p.Val1453=)
c.4362A>C (p.Val1454=)
c.4236A>C (p.Val1412=)
c.4356A>C (p.Val1452=)
c.4284A>C (p.Val1428=)
c.1050A>C (p.Val350=)
c.912A>C (p.Val304=)
c.3474A>C (p.Val1158=)
c.4239A>C (p.Val1413=)
c.4428A>C (p.Val1476=)
c.4221A>C (p.Val1407=)
c.924A>C (p.Val308=)
c.969A>C (p.Val323=)
c.4425A>C (p.Val1475=)
c.749A>C
c.936A>C (p.Val312=)
c.*4145A>C (n.*4145A>C)
c.653A>C
c.675A>C (p.Val225=)
c.678A>C (p.Val226=)
c.5-12659A>C (n.5-12659A>C)
c.-43-2089A>C (n.-43-2089A>C)
c.-98-26420A>C (n.-98-26420A>C)
n.253A>C
n.4498A>C
n.4539A>C
17g.43076610T=CA2260775555BRCA1c.4359A= (p.Val1453=)
c.4362A= (p.Val1454=)
c.4236A= (p.Val1412=)
c.4356A= (p.Val1452=)
c.4284A= (p.Val1428=)
c.1050A= (p.Val350=)
c.912A= (p.Val304=)
c.3474A= (p.Val1158=)
c.4239A= (p.Val1413=)
c.4428A= (p.Val1476=)
c.4221A= (p.Val1407=)
c.924A= (p.Val308=)
c.969A= (p.Val323=)
c.4425A= (p.Val1475=)
c.749A=
c.936A= (p.Val312=)
c.*4145A= (n.*4145A=)
c.653A=
c.675A= (p.Val225=)
c.678A= (p.Val226=)
c.5-12659A= (n.5-12659A=)
c.-43-2089A= (n.-43-2089A=)
c.-98-26420A= (n.-98-26420A=)
n.253A=
n.4498A=
n.4539A=
17g.43076611A=CA2260775556BRCA1c.4358T= (p.Val1453=)
c.4361T= (p.Val1454=)
c.4235T= (p.Val1412=)
c.4355T= (p.Val1452=)
c.4283T= (p.Val1428=)
c.1049T= (p.Val350=)
c.911T= (p.Val304=)
c.3473T= (p.Val1158=)
c.4238T= (p.Val1413=)
c.4427T= (p.Val1476=)
c.4220T= (p.Val1407=)
c.923T= (p.Val308=)
c.968T= (p.Val323=)
c.4424T= (p.Val1475=)
c.748T=
c.935T= (p.Val312=)
c.*4144T= (n.*4144T=)
c.652T=
c.674T= (p.Val225=)
c.677T= (p.Val226=)
c.5-12660T= (n.5-12660T=)
c.-43-2090T= (n.-43-2090T=)
c.-98-26421T= (n.-98-26421T=)
n.252T=
n.4497T=
n.4538T=
17g.43076611A>CCA10592815BRCA1c.4358T>G (p.Val1453Gly)
c.4361T>G (p.Val1454Gly)
c.4235T>G (p.Val1412Gly)
c.4355T>G (p.Val1452Gly)
c.4283T>G (p.Val1428Gly)
c.1049T>G (p.Val350Gly)
c.911T>G (p.Val304Gly)
c.3473T>G (p.Val1158Gly)
c.4238T>G (p.Val1413Gly)
c.4427T>G (p.Val1476Gly)
c.4220T>G (p.Val1407Gly)
c.923T>G (p.Val308Gly)
c.968T>G (p.Val323Gly)
c.4424T>G (p.Val1475Gly)
c.748T>G
c.935T>G (p.Val312Gly)
c.*4144T>G (n.*4144T>G)
c.652T>G
c.674T>G (p.Val225Gly)
c.677T>G (p.Val226Gly)
c.5-12660T>G (n.5-12660T>G)
c.-43-2090T>G (n.-43-2090T>G)
c.-98-26421T>G (n.-98-26421T>G)
n.252T>G
n.4497T>G
n.4538T>G
 gnomAD v4
17g.43076611A>GCA002800BRCA1c.4358T>C (p.Val1453Ala)
c.4361T>C (p.Val1454Ala)
c.4235T>C (p.Val1412Ala)
c.4355T>C (p.Val1452Ala)
c.4283T>C (p.Val1428Ala)
c.1049T>C (p.Val350Ala)
c.911T>C (p.Val304Ala)
c.3473T>C (p.Val1158Ala)
c.4238T>C (p.Val1413Ala)
c.4427T>C (p.Val1476Ala)
c.4220T>C (p.Val1407Ala)
c.923T>C (p.Val308Ala)
c.968T>C (p.Val323Ala)
c.4424T>C (p.Val1475Ala)
c.748T>C
c.935T>C (p.Val312Ala)
c.*4144T>C (n.*4144T>C)
c.652T>C
c.674T>C (p.Val225Ala)
c.677T>C (p.Val226Ala)
c.5-12660T>C (n.5-12660T>C)
c.-43-2090T>C (n.-43-2090T>C)
c.-98-26421T>C (n.-98-26421T>C)
n.252T>C
n.4497T>C
n.4538T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43076611A>TCA10592816BRCA1c.4358T>A (p.Val1453Glu)
c.4361T>A (p.Val1454Glu)
c.4235T>A (p.Val1412Glu)
c.4355T>A (p.Val1452Glu)
c.4283T>A (p.Val1428Glu)
c.1049T>A (p.Val350Glu)
c.911T>A (p.Val304Glu)
c.3473T>A (p.Val1158Glu)
c.4238T>A (p.Val1413Glu)
c.4427T>A (p.Val1476Glu)
c.4220T>A (p.Val1407Glu)
c.923T>A (p.Val308Glu)
c.968T>A (p.Val323Glu)
c.4424T>A (p.Val1475Glu)
c.748T>A
c.935T>A (p.Val312Glu)
c.*4144T>A (n.*4144T>A)
c.652T>A
c.674T>A (p.Val225Glu)
c.677T>A (p.Val226Glu)
c.5-12660T>A (n.5-12660T>A)
c.-43-2090T>A (n.-43-2090T>A)
c.-98-26421T>A (n.-98-26421T>A)
n.252T>A
n.4497T>A
n.4538T>A
 dbSNP
17g.43076612C>ACA10592817BRCA1c.4358-1G>T (n.4358-1G>T)
c.4360G>T (p.Val1454Leu)
c.4234G>T (p.Val1412Leu)
c.4354G>T (p.Val1452Leu)
c.4282G>T (p.Val1428Leu)
c.1048G>T (p.Val350Leu)
c.910G>T (p.Val304Leu)
c.3472G>T (p.Val1158Leu)
c.4237G>T (p.Val1413Leu)
c.4426G>T (p.Val1476Leu)
c.4219G>T (p.Val1407Leu)
c.923-1G>T (n.923-1G>T)
c.968-1G>T (n.968-1G>T)
c.4424-1G>T (n.4424-1G>T)
c.747G>T
c.934G>T (p.Val312Leu)
c.*4143G>T (n.*4143G>T)
c.652-1G>T
c.1049-1G>T (n.1049-1G>T)
c.673G>T (p.Val225Leu)
c.676G>T (p.Val226Leu)
c.5-12661G>T (n.5-12661G>T)
c.-43-2091G>T (n.-43-2091G>T)
c.-98-26422G>T (n.-98-26422G>T)
n.252-1G>T
n.4496G>T
n.4537G>T
17g.43076612C=CA2260775557BRCA1c.4358-1G= (n.4358-1G=)
c.4360G= (p.Val1454=)
c.4234G= (p.Val1412=)
c.4354G= (p.Val1452=)
c.4282G= (p.Val1428=)
c.1048G= (p.Val350=)
c.910G= (p.Val304=)
c.3472G= (p.Val1158=)
c.4237G= (p.Val1413=)
c.4426G= (p.Val1476=)
c.4219G= (p.Val1407=)
c.923-1G= (n.923-1G=)
c.968-1G= (n.968-1G=)
c.4424-1G= (n.4424-1G=)
c.747G=
c.934G= (p.Val312=)
c.*4143G= (n.*4143G=)
c.652-1G=
c.1049-1G= (n.1049-1G=)
c.673G= (p.Val225=)
c.676G= (p.Val226=)
c.5-12661G= (n.5-12661G=)
c.-43-2091G= (n.-43-2091G=)
c.-98-26422G= (n.-98-26422G=)
n.252-1G=
n.4496G=
n.4537G=
17g.43076612C>GCA10592819BRCA1c.4358-1G>C (n.4358-1G>C)
c.4360G>C (p.Val1454Leu)
c.4234G>C (p.Val1412Leu)
c.4354G>C (p.Val1452Leu)
c.4282G>C (p.Val1428Leu)
c.1048G>C (p.Val350Leu)
c.910G>C (p.Val304Leu)
c.3472G>C (p.Val1158Leu)
c.4237G>C (p.Val1413Leu)
c.4426G>C (p.Val1476Leu)
c.4219G>C (p.Val1407Leu)
c.923-1G>C (n.923-1G>C)
c.968-1G>C (n.968-1G>C)
c.4424-1G>C (n.4424-1G>C)
c.747G>C
c.934G>C (p.Val312Leu)
c.*4143G>C (n.*4143G>C)
c.652-1G>C
c.1049-1G>C (n.1049-1G>C)
c.673G>C (p.Val225Leu)
c.676G>C (p.Val226Leu)
c.5-12661G>C (n.5-12661G>C)
c.-43-2091G>C (n.-43-2091G>C)
c.-98-26422G>C (n.-98-26422G>C)
n.252-1G>C
n.4496G>C
n.4537G>C
 dbSNP
17g.43076612C>TCA10592821BRCA1c.4358-1G>A (n.4358-1G>A)
c.4360G>A (p.Val1454Ile)
c.4234G>A (p.Val1412Ile)
c.4354G>A (p.Val1452Ile)
c.4282G>A (p.Val1428Ile)
c.1048G>A (p.Val350Ile)
c.910G>A (p.Val304Ile)
c.3472G>A (p.Val1158Ile)
c.4237G>A (p.Val1413Ile)
c.4426G>A (p.Val1476Ile)
c.4219G>A (p.Val1407Ile)
c.923-1G>A (n.923-1G>A)
c.968-1G>A (n.968-1G>A)
c.4424-1G>A (n.4424-1G>A)
c.747G>A
c.934G>A (p.Val312Ile)
c.*4143G>A (n.*4143G>A)
c.652-1G>A
c.1049-1G>A (n.1049-1G>A)
c.673G>A (p.Val225Ile)
c.676G>A (p.Val226Ile)
c.5-12661G>A (n.5-12661G>A)
c.-43-2091G>A (n.-43-2091G>A)
c.-98-26422G>A (n.-98-26422G>A)
n.252-1G>A
n.4496G>A
n.4537G>A
 ClinVar dbSNP
17g.43076613delCA2580094447BRCA1c.4358-2del (n.4358-2del)
c.4359del (p.Val1454TyrfsTer2)
c.4233del (p.Val1412TyrfsTer2)
c.4353del (p.Val1452TyrfsTer2)
c.4281del (p.Val1428TyrfsTer2)
c.1047del (p.Val350TyrfsTer2)
c.909del (p.Val304TyrfsTer2)
c.3471del (p.Val1158TyrfsTer2)
c.4236del (p.Val1413TyrfsTer2)
c.4425del (p.Val1476TyrfsTer2)
c.4218del (p.Val1407TyrfsTer2)
c.923-2del (n.923-2del)
c.968-2del (n.968-2del)
c.4424-2del (n.4424-2del)
c.746del
c.933del (p.Val312TyrfsTer2)
c.*4142del (n.*4142del)
c.652-2del
c.1049-2del (n.1049-2del)
c.672del (p.Val225TyrfsTer2)
c.675del (p.Val226TyrfsTer2)
c.5-12662del (n.5-12662del)
c.-43-2092del (n.-43-2092del)
c.-98-26423del (n.-98-26423del)
n.252-2del
n.4495del
n.4536del
 ClinVar
17g.43076613T>ACA10592823BRCA1c.4358-2A>T (n.4358-2A>T)
c.4359A>T (p.Ala1453=)
c.4233A>T (p.Ala1411=)
c.4353A>T (p.Ala1451=)
c.4281A>T (p.Ala1427=)
c.1047A>T (p.Ala349=)
c.909A>T (p.Ala303=)
c.3471A>T (p.Ala1157=)
c.4236A>T (p.Ala1412=)
c.4425A>T (p.Ala1475=)
c.4218A>T (p.Ala1406=)
c.923-2A>T (n.923-2A>T)
c.968-2A>T (n.968-2A>T)
c.4424-2A>T (n.4424-2A>T)
c.746A>T
c.933A>T (p.Ala311=)
c.*4142A>T (n.*4142A>T)
c.652-2A>T
c.1049-2A>T (n.1049-2A>T)
c.672A>T (p.Ala224=)
c.675A>T (p.Ala225=)
c.5-12662A>T (n.5-12662A>T)
c.-43-2092A>T (n.-43-2092A>T)
c.-98-26423A>T (n.-98-26423A>T)
n.252-2A>T
n.4495A>T
n.4536A>T
 ClinVar
17g.43076613T>CCA10592824BRCA1c.4358-2A>G (n.4358-2A>G)
c.4359A>G (p.Ala1453=)
c.4233A>G (p.Ala1411=)
c.4353A>G (p.Ala1451=)
c.4281A>G (p.Ala1427=)
c.1047A>G (p.Ala349=)
c.909A>G (p.Ala303=)
c.3471A>G (p.Ala1157=)
c.4236A>G (p.Ala1412=)
c.4425A>G (p.Ala1475=)
c.4218A>G (p.Ala1406=)
c.923-2A>G (n.923-2A>G)
c.968-2A>G (n.968-2A>G)
c.4424-2A>G (n.4424-2A>G)
c.746A>G
c.933A>G (p.Ala311=)
c.*4142A>G (n.*4142A>G)
c.652-2A>G
c.1049-2A>G (n.1049-2A>G)
c.672A>G (p.Ala224=)
c.675A>G (p.Ala225=)
c.5-12662A>G (n.5-12662A>G)
c.-43-2092A>G (n.-43-2092A>G)
c.-98-26423A>G (n.-98-26423A>G)
n.252-2A>G
n.4495A>G
n.4536A>G
17g.43076613T>GCA10592825BRCA1c.4358-2A>C (n.4358-2A>C)
c.4359A>C (p.Ala1453=)
c.4233A>C (p.Ala1411=)
c.4353A>C (p.Ala1451=)
c.4281A>C (p.Ala1427=)
c.1047A>C (p.Ala349=)
c.909A>C (p.Ala303=)
c.3471A>C (p.Ala1157=)
c.4236A>C (p.Ala1412=)
c.4425A>C (p.Ala1475=)
c.4218A>C (p.Ala1406=)
c.923-2A>C (n.923-2A>C)
c.968-2A>C (n.968-2A>C)
c.4424-2A>C (n.4424-2A>C)
c.746A>C
c.933A>C (p.Ala311=)
c.*4142A>C (n.*4142A>C)
c.652-2A>C
c.1049-2A>C (n.1049-2A>C)
c.672A>C (p.Ala224=)
c.675A>C (p.Ala225=)
c.5-12662A>C (n.5-12662A>C)
c.-43-2092A>C (n.-43-2092A>C)
c.-98-26423A>C (n.-98-26423A>C)
n.252-2A>C
n.4495A>C
n.4536A>C
 ClinVar dbSNP
17g.43076614G>ACA10592826BRCA1c.4358-3C>T (n.4358-3C>T)
c.4358C>T (p.Ala1453Val)
c.4232C>T (p.Ala1411Val)
c.4352C>T (p.Ala1451Val)
c.4280C>T (p.Ala1427Val)
c.1046C>T (p.Ala349Val)
c.908C>T (p.Ala303Val)
c.3470C>T (p.Ala1157Val)
c.4235C>T (p.Ala1412Val)
c.4424C>T (p.Ala1475Val)
c.4217C>T (p.Ala1406Val)
c.923-3C>T (n.923-3C>T)
c.968-3C>T (n.968-3C>T)
c.4424-3C>T (n.4424-3C>T)
c.745C>T
c.932C>T (p.Ala311Val)
c.*4141C>T (n.*4141C>T)
c.652-3C>T
c.1049-3C>T (n.1049-3C>T)
c.671C>T (p.Ala224Val)
c.674C>T (p.Ala225Val)
c.5-12663C>T (n.5-12663C>T)
c.-43-2093C>T (n.-43-2093C>T)
c.-98-26424C>T (n.-98-26424C>T)
n.252-3C>T
n.4494C>T
n.4535C>T
 ClinVar dbSNP
17g.43076614G>CCA10592827BRCA1c.4358-3C>G (n.4358-3C>G)
c.4358C>G (p.Ala1453Gly)
c.4232C>G (p.Ala1411Gly)
c.4352C>G (p.Ala1451Gly)
c.4280C>G (p.Ala1427Gly)
c.1046C>G (p.Ala349Gly)
c.908C>G (p.Ala303Gly)
c.3470C>G (p.Ala1157Gly)
c.4235C>G (p.Ala1412Gly)
c.4424C>G (p.Ala1475Gly)
c.4217C>G (p.Ala1406Gly)
c.923-3C>G (n.923-3C>G)
c.968-3C>G (n.968-3C>G)
c.4424-3C>G (n.4424-3C>G)
c.745C>G
c.932C>G (p.Ala311Gly)
c.*4141C>G (n.*4141C>G)
c.652-3C>G
c.1049-3C>G (n.1049-3C>G)
c.671C>G (p.Ala224Gly)
c.674C>G (p.Ala225Gly)
c.5-12663C>G (n.5-12663C>G)
c.-43-2093C>G (n.-43-2093C>G)
c.-98-26424C>G (n.-98-26424C>G)
n.252-3C>G
n.4494C>G
n.4535C>G
 ClinVar dbSNP
17g.43076614G=CA2260775558BRCA1c.4358-3C= (n.4358-3C=)
c.4358C= (p.Ala1453=)
c.4232C= (p.Ala1411=)
c.4352C= (p.Ala1451=)
c.4280C= (p.Ala1427=)
c.1046C= (p.Ala349=)
c.908C= (p.Ala303=)
c.3470C= (p.Ala1157=)
c.4235C= (p.Ala1412=)
c.4424C= (p.Ala1475=)
c.4217C= (p.Ala1406=)
c.923-3C= (n.923-3C=)
c.968-3C= (n.968-3C=)
c.4424-3C= (n.4424-3C=)
c.745C=
c.932C= (p.Ala311=)
c.*4141C= (n.*4141C=)
c.652-3C=
c.1049-3C= (n.1049-3C=)
c.671C= (p.Ala224=)
c.674C= (p.Ala225=)
c.5-12663C= (n.5-12663C=)
c.-43-2093C= (n.-43-2093C=)
c.-98-26424C= (n.-98-26424C=)
n.252-3C=
n.4494C=
n.4535C=
17g.43076614G>TCA10592828BRCA1c.4358-3C>A (n.4358-3C>A)
c.4358C>A (p.Ala1453Glu)
c.4232C>A (p.Ala1411Glu)
c.4352C>A (p.Ala1451Glu)
c.4280C>A (p.Ala1427Glu)
c.1046C>A (p.Ala349Glu)
c.908C>A (p.Ala303Glu)
c.3470C>A (p.Ala1157Glu)
c.4235C>A (p.Ala1412Glu)
c.4424C>A (p.Ala1475Glu)
c.4217C>A (p.Ala1406Glu)
c.923-3C>A (n.923-3C>A)
c.968-3C>A (n.968-3C>A)
c.4424-3C>A (n.4424-3C>A)
c.745C>A
c.932C>A (p.Ala311Glu)
c.*4141C>A (n.*4141C>A)
c.652-3C>A
c.1049-3C>A (n.1049-3C>A)
c.671C>A (p.Ala224Glu)
c.674C>A (p.Ala225Glu)
c.5-12663C>A (n.5-12663C>A)
c.-43-2093C>A (n.-43-2093C>A)
c.-98-26424C>A (n.-98-26424C>A)
n.252-3C>A
n.4494C>A
n.4535C>A
 ClinVar dbSNP gnomAD v4
17g.43076615C>ACA10592829BRCA1c.4358-4G>T (n.4358-4G>T)
c.4358-1G>T (n.4358-1G>T)
c.4232-1G>T (n.4232-1G>T)
c.4352-1G>T (n.4352-1G>T)
c.4280-1G>T (n.4280-1G>T)
c.1046-1G>T (n.1046-1G>T)
c.908-1G>T (n.908-1G>T)
c.3470-1G>T (n.3470-1G>T)
c.4235-1G>T (n.4235-1G>T)
c.4424-1G>T (n.4424-1G>T)
c.4217-1G>T (n.4217-1G>T)
c.923-4G>T (n.923-4G>T)
c.968-4G>T (n.968-4G>T)
c.4424-4G>T (n.4424-4G>T)
c.745-1G>T
c.932-1G>T (n.932-1G>T)
c.*4141-1G>T (n.*4141-1G>T)
c.652-4G>T
c.1049-4G>T (n.1049-4G>T)
c.671-1G>T (n.671-1G>T)
c.674-1G>T (n.674-1G>T)
c.5-12664G>T (n.5-12664G>T)
c.-43-2094G>T (n.-43-2094G>T)
c.-98-26425G>T (n.-98-26425G>T)
n.252-4G>T
n.4494-1G>T
n.4535-1G>T
 ClinVar dbSNP
17g.43076615C=CA2260775559BRCA1c.4358-4G= (n.4358-4G=)
c.4358-1G= (n.4358-1G=)
c.4232-1G= (n.4232-1G=)
c.4352-1G= (n.4352-1G=)
c.4280-1G= (n.4280-1G=)
c.1046-1G= (n.1046-1G=)
c.908-1G= (n.908-1G=)
c.3470-1G= (n.3470-1G=)
c.4235-1G= (n.4235-1G=)
c.4424-1G= (n.4424-1G=)
c.4217-1G= (n.4217-1G=)
c.923-4G= (n.923-4G=)
c.968-4G= (n.968-4G=)
c.4424-4G= (n.4424-4G=)
c.745-1G=
c.932-1G= (n.932-1G=)
c.*4141-1G= (n.*4141-1G=)
c.652-4G=
c.1049-4G= (n.1049-4G=)
c.671-1G= (n.671-1G=)
c.674-1G= (n.674-1G=)
c.5-12664G= (n.5-12664G=)
c.-43-2094G= (n.-43-2094G=)
c.-98-26425G= (n.-98-26425G=)
n.252-4G=
n.4494-1G=
n.4535-1G=
17g.43076615C>GCA10592830BRCA1c.4358-4G>C (n.4358-4G>C)
c.4358-1G>C (n.4358-1G>C)
c.4232-1G>C (n.4232-1G>C)
c.4352-1G>C (n.4352-1G>C)
c.4280-1G>C (n.4280-1G>C)
c.1046-1G>C (n.1046-1G>C)
c.908-1G>C (n.908-1G>C)
c.3470-1G>C (n.3470-1G>C)
c.4235-1G>C (n.4235-1G>C)
c.4424-1G>C (n.4424-1G>C)
c.4217-1G>C (n.4217-1G>C)
c.923-4G>C (n.923-4G>C)
c.968-4G>C (n.968-4G>C)
c.4424-4G>C (n.4424-4G>C)
c.745-1G>C
c.932-1G>C (n.932-1G>C)
c.*4141-1G>C (n.*4141-1G>C)
c.652-4G>C
c.1049-4G>C (n.1049-4G>C)
c.671-1G>C (n.671-1G>C)
c.674-1G>C (n.674-1G>C)
c.5-12664G>C (n.5-12664G>C)
c.-43-2094G>C (n.-43-2094G>C)
c.-98-26425G>C (n.-98-26425G>C)
n.252-4G>C
n.4494-1G>C
n.4535-1G>C
17g.43076615C>TCA10580523BRCA1c.4358-4G>A (n.4358-4G>A)
c.4358-1G>A (n.4358-1G>A)
c.4232-1G>A (n.4232-1G>A)
c.4352-1G>A (n.4352-1G>A)
c.4280-1G>A (n.4280-1G>A)
c.1046-1G>A (n.1046-1G>A)
c.908-1G>A (n.908-1G>A)
c.3470-1G>A (n.3470-1G>A)
c.4235-1G>A (n.4235-1G>A)
c.4424-1G>A (n.4424-1G>A)
c.4217-1G>A (n.4217-1G>A)
c.923-4G>A (n.923-4G>A)
c.968-4G>A (n.968-4G>A)
c.4424-4G>A (n.4424-4G>A)
c.745-1G>A
c.932-1G>A (n.932-1G>A)
c.*4141-1G>A (n.*4141-1G>A)
c.652-4G>A
c.1049-4G>A (n.1049-4G>A)
c.671-1G>A (n.671-1G>A)
c.674-1G>A (n.674-1G>A)
c.5-12664G>A (n.5-12664G>A)
c.-43-2094G>A (n.-43-2094G>A)
c.-98-26425G>A (n.-98-26425G>A)
n.252-4G>A
n.4494-1G>A
n.4535-1G>A
 ClinVar dbSNP
17g.43076615_43076616delinsCTCA2260775560BRCA1c.4358-5_4358-4delinsAG (n.4358-5_4358-4delinsAG)
c.4358-2_4358-1delinsAG (n.4358-2_4358-1delinsAG)
c.4232-2_4232-1delinsAG (n.4232-2_4232-1delinsAG)
c.4352-2_4352-1delinsAG (n.4352-2_4352-1delinsAG)
c.4280-2_4280-1delinsAG (n.4280-2_4280-1delinsAG)
c.1046-2_1046-1delinsAG (n.1046-2_1046-1delinsAG)
c.908-2_908-1delinsAG (n.908-2_908-1delinsAG)
c.3470-2_3470-1delinsAG (n.3470-2_3470-1delinsAG)
c.4235-2_4235-1delinsAG (n.4235-2_4235-1delinsAG)
c.4424-2_4424-1delinsAG (n.4424-2_4424-1delinsAG)
c.4217-2_4217-1delinsAG (n.4217-2_4217-1delinsAG)
c.923-5_923-4delinsAG (n.923-5_923-4delinsAG)
c.968-5_968-4delinsAG (n.968-5_968-4delinsAG)
c.4424-5_4424-4delinsAG (n.4424-5_4424-4delinsAG)
c.745-2_745-1delinsAG
c.932-2_932-1delinsAG (n.932-2_932-1delinsAG)
c.*4141-2_*4141-1delinsAG (n.*4141-2_*4141-1delinsAG)
c.652-5_652-4delinsAG
c.1049-5_1049-4delinsAG (n.1049-5_1049-4delinsAG)
c.671-2_671-1delinsAG (n.671-2_671-1delinsAG)
c.674-2_674-1delinsAG (n.674-2_674-1delinsAG)
c.5-12665_5-12664delinsAG (n.5-12665_5-12664delinsAG)
c.-43-2095_-43-2094delinsAG (n.-43-2095_-43-2094delinsAG)
c.-98-26426_-98-26425delinsAG (n.-98-26426_-98-26425delinsAG)
n.252-5_252-4delinsAG
n.4494-2_4494-1delinsAG
n.4535-2_4535-1delinsAG
17g.43076616T>ACA10592831BRCA1c.4358-5A>T (n.4358-5A>T)
c.4358-2A>T (n.4358-2A>T)
c.4232-2A>T (n.4232-2A>T)
c.4352-2A>T (n.4352-2A>T)
c.4280-2A>T (n.4280-2A>T)
c.1046-2A>T (n.1046-2A>T)
c.908-2A>T (n.908-2A>T)
c.3470-2A>T (n.3470-2A>T)
c.4235-2A>T (n.4235-2A>T)
c.4424-2A>T (n.4424-2A>T)
c.4217-2A>T (n.4217-2A>T)
c.923-5A>T (n.923-5A>T)
c.968-5A>T (n.968-5A>T)
c.4424-5A>T (n.4424-5A>T)
c.745-2A>T
c.932-2A>T (n.932-2A>T)
c.*4141-2A>T (n.*4141-2A>T)
c.652-5A>T
c.1049-5A>T (n.1049-5A>T)
c.671-2A>T (n.671-2A>T)
c.674-2A>T (n.674-2A>T)
c.5-12665A>T (n.5-12665A>T)
c.-43-2095A>T (n.-43-2095A>T)
c.-98-26426A>T (n.-98-26426A>T)
n.252-5A>T
n.4494-2A>T
n.4535-2A>T
 ClinVar dbSNP
17g.43076616T>CCA10592832BRCA1c.4358-5A>G (n.4358-5A>G)
c.4358-2A>G (n.4358-2A>G)
c.4232-2A>G (n.4232-2A>G)
c.4352-2A>G (n.4352-2A>G)
c.4280-2A>G (n.4280-2A>G)
c.1046-2A>G (n.1046-2A>G)
c.908-2A>G (n.908-2A>G)
c.3470-2A>G (n.3470-2A>G)
c.4235-2A>G (n.4235-2A>G)
c.4424-2A>G (n.4424-2A>G)
c.4217-2A>G (n.4217-2A>G)
c.923-5A>G (n.923-5A>G)
c.968-5A>G (n.968-5A>G)
c.4424-5A>G (n.4424-5A>G)
c.745-2A>G
c.932-2A>G (n.932-2A>G)
c.*4141-2A>G (n.*4141-2A>G)
c.652-5A>G
c.1049-5A>G (n.1049-5A>G)
c.671-2A>G (n.671-2A>G)
c.674-2A>G (n.674-2A>G)
c.5-12665A>G (n.5-12665A>G)
c.-43-2095A>G (n.-43-2095A>G)
c.-98-26426A>G (n.-98-26426A>G)
n.252-5A>G
n.4494-2A>G
n.4535-2A>G
 ClinVar dbSNP
17g.43076616T>GCA10592833BRCA1c.4358-5A>C (n.4358-5A>C)
c.4358-2A>C (n.4358-2A>C)
c.4232-2A>C (n.4232-2A>C)
c.4352-2A>C (n.4352-2A>C)
c.4280-2A>C (n.4280-2A>C)
c.1046-2A>C (n.1046-2A>C)
c.908-2A>C (n.908-2A>C)
c.3470-2A>C (n.3470-2A>C)
c.4235-2A>C (n.4235-2A>C)
c.4424-2A>C (n.4424-2A>C)
c.4217-2A>C (n.4217-2A>C)
c.923-5A>C (n.923-5A>C)
c.968-5A>C (n.968-5A>C)
c.4424-5A>C (n.4424-5A>C)
c.745-2A>C
c.932-2A>C (n.932-2A>C)
c.*4141-2A>C (n.*4141-2A>C)
c.652-5A>C
c.1049-5A>C (n.1049-5A>C)
c.671-2A>C (n.671-2A>C)
c.674-2A>C (n.674-2A>C)
c.5-12665A>C (n.5-12665A>C)
c.-43-2095A>C (n.-43-2095A>C)
c.-98-26426A>C (n.-98-26426A>C)
n.252-5A>C
n.4494-2A>C
n.4535-2A>C
17g.43076616T=CA2260775561BRCA1c.4358-5A= (n.4358-5A=)
c.4358-2A= (n.4358-2A=)
c.4232-2A= (n.4232-2A=)
c.4352-2A= (n.4352-2A=)
c.4280-2A= (n.4280-2A=)
c.1046-2A= (n.1046-2A=)
c.908-2A= (n.908-2A=)
c.3470-2A= (n.3470-2A=)
c.4235-2A= (n.4235-2A=)
c.4424-2A= (n.4424-2A=)
c.4217-2A= (n.4217-2A=)
c.923-5A= (n.923-5A=)
c.968-5A= (n.968-5A=)
c.4424-5A= (n.4424-5A=)
c.745-2A=
c.932-2A= (n.932-2A=)
c.*4141-2A= (n.*4141-2A=)
c.652-5A=
c.1049-5A= (n.1049-5A=)
c.671-2A= (n.671-2A=)
c.674-2A= (n.674-2A=)
c.5-12665A= (n.5-12665A=)
c.-43-2095A= (n.-43-2095A=)
c.-98-26426A= (n.-98-26426A=)
n.252-5A=
n.4494-2A=
n.4535-2A=
17g.43076618_43076619insTGTTTCA626083550BRCA1c.4358-5_4358-4insCAAAA (n.4358-5_4358-4insCAAAA)
c.4358-2_4358-1insCAAAA (n.4358-2_4358-1insCAAAA)
c.4232-2_4232-1insCAAAA (n.4232-2_4232-1insCAAAA)
c.4352-2_4352-1insCAAAA (n.4352-2_4352-1insCAAAA)
c.4280-2_4280-1insCAAAA (n.4280-2_4280-1insCAAAA)
c.1046-2_1046-1insCAAAA (n.1046-2_1046-1insCAAAA)
c.908-2_908-1insCAAAA (n.908-2_908-1insCAAAA)
c.3470-2_3470-1insCAAAA (n.3470-2_3470-1insCAAAA)
c.4235-2_4235-1insCAAAA (n.4235-2_4235-1insCAAAA)
c.4424-2_4424-1insCAAAA (n.4424-2_4424-1insCAAAA)
c.4217-2_4217-1insCAAAA (n.4217-2_4217-1insCAAAA)
c.923-5_923-4insCAAAA (n.923-5_923-4insCAAAA)
c.968-5_968-4insCAAAA (n.968-5_968-4insCAAAA)
c.4424-5_4424-4insCAAAA (n.4424-5_4424-4insCAAAA)
c.745-2_745-1insCAAAA
c.932-2_932-1insCAAAA (n.932-2_932-1insCAAAA)
c.*4141-2_*4141-1insCAAAA (n.*4141-2_*4141-1insCAAAA)
c.652-5_652-4insCAAAA
c.1049-5_1049-4insCAAAA (n.1049-5_1049-4insCAAAA)
c.671-2_671-1insCAAAA (n.671-2_671-1insCAAAA)
c.674-2_674-1insCAAAA (n.674-2_674-1insCAAAA)
c.5-12665_5-12664insCAAAA (n.5-12665_5-12664insCAAAA)
c.-43-2095_-43-2094insCAAAA (n.-43-2095_-43-2094insCAAAA)
c.-98-26426_-98-26425insCAAAA (n.-98-26426_-98-26425insCAAAA)
n.252-5_252-4insCAAAA
n.4494-2_4494-1insCAAAA
n.4535-2_4535-1insCAAAA
 dbSNP gnomAD v2
17g.43076618dupCA2840379767BRCA1c.4358-5dup (n.4358-5dup)
c.4358-2dup (n.4358-2dup)
c.4232-2dup (n.4232-2dup)
c.4352-2dup (n.4352-2dup)
c.4280-2dup (n.4280-2dup)
c.1046-2dup (n.1046-2dup)
c.908-2dup (n.908-2dup)
c.3470-2dup (n.3470-2dup)
c.4235-2dup (n.4235-2dup)
c.4424-2dup (n.4424-2dup)
c.4217-2dup (n.4217-2dup)
c.923-5dup (n.923-5dup)
c.968-5dup (n.968-5dup)
c.4424-5dup (n.4424-5dup)
c.745-2dup
c.932-2dup (n.932-2dup)
c.*4141-2dup (n.*4141-2dup)
c.652-5dup
c.1049-5dup (n.1049-5dup)
c.671-2dup (n.671-2dup)
c.674-2dup (n.674-2dup)
c.5-12665dup (n.5-12665dup)
c.-43-2095dup (n.-43-2095dup)
c.-98-26426dup (n.-98-26426dup)
n.252-5dup
n.4494-2dup
n.4535-2dup
17g.43076618delCA916080213BRCA1c.4358-5del (n.4358-5del)
c.4358-2del (n.4358-2del)
c.4232-2del (n.4232-2del)
c.4352-2del (n.4352-2del)
c.4280-2del (n.4280-2del)
c.1046-2del (n.1046-2del)
c.908-2del (n.908-2del)
c.3470-2del (n.3470-2del)
c.4235-2del (n.4235-2del)
c.4424-2del (n.4424-2del)
c.4217-2del (n.4217-2del)
c.923-5del (n.923-5del)
c.968-5del (n.968-5del)
c.4424-5del (n.4424-5del)
c.745-2del
c.932-2del (n.932-2del)
c.*4141-2del (n.*4141-2del)
c.652-5del
c.1049-5del (n.1049-5del)
c.671-2del (n.671-2del)
c.674-2del (n.674-2del)
c.5-12665del (n.5-12665del)
c.-43-2095del (n.-43-2095del)
c.-98-26426del (n.-98-26426del)
n.252-5del
n.4494-2del
n.4535-2del
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43076617T>ACA2733676608BRCA1c.4358-6A>T (n.4358-6A>T)
c.4358-3A>T (n.4358-3A>T)
c.4232-3A>T (n.4232-3A>T)
c.4352-3A>T (n.4352-3A>T)
c.4280-3A>T (n.4280-3A>T)
c.1046-3A>T (n.1046-3A>T)
c.908-3A>T (n.908-3A>T)
c.3470-3A>T (n.3470-3A>T)
c.4235-3A>T (n.4235-3A>T)
c.4424-3A>T (n.4424-3A>T)
c.4217-3A>T (n.4217-3A>T)
c.923-6A>T (n.923-6A>T)
c.968-6A>T (n.968-6A>T)
c.4424-6A>T (n.4424-6A>T)
c.745-3A>T
c.932-3A>T (n.932-3A>T)
c.*4141-3A>T (n.*4141-3A>T)
c.652-6A>T
c.1049-6A>T (n.1049-6A>T)
c.671-3A>T (n.671-3A>T)
c.674-3A>T (n.674-3A>T)
c.5-12666A>T (n.5-12666A>T)
c.-43-2096A>T (n.-43-2096A>T)
c.-98-26427A>T (n.-98-26427A>T)
n.252-6A>T
n.4494-3A>T
n.4535-3A>T
 dbSNP
17g.43076617T>CCA891844425BRCA1c.4358-6A>G (n.4358-6A>G)
c.4358-3A>G (n.4358-3A>G)
c.4232-3A>G (n.4232-3A>G)
c.4352-3A>G (n.4352-3A>G)
c.4280-3A>G (n.4280-3A>G)
c.1046-3A>G (n.1046-3A>G)
c.908-3A>G (n.908-3A>G)
c.3470-3A>G (n.3470-3A>G)
c.4235-3A>G (n.4235-3A>G)
c.4424-3A>G (n.4424-3A>G)
c.4217-3A>G (n.4217-3A>G)
c.923-6A>G (n.923-6A>G)
c.968-6A>G (n.968-6A>G)
c.4424-6A>G (n.4424-6A>G)
c.745-3A>G
c.932-3A>G (n.932-3A>G)
c.*4141-3A>G (n.*4141-3A>G)
c.652-6A>G
c.1049-6A>G (n.1049-6A>G)
c.671-3A>G (n.671-3A>G)
c.674-3A>G (n.674-3A>G)
c.5-12666A>G (n.5-12666A>G)
c.-43-2096A>G (n.-43-2096A>G)
c.-98-26427A>G (n.-98-26427A>G)
n.252-6A>G
n.4494-3A>G
n.4535-3A>G
 ClinVar dbSNP
17g.43076617T=CA2260775562BRCA1c.4358-6A= (n.4358-6A=)
c.4358-3A= (n.4358-3A=)
c.4232-3A= (n.4232-3A=)
c.4352-3A= (n.4352-3A=)
c.4280-3A= (n.4280-3A=)
c.1046-3A= (n.1046-3A=)
c.908-3A= (n.908-3A=)
c.3470-3A= (n.3470-3A=)
c.4235-3A= (n.4235-3A=)
c.4424-3A= (n.4424-3A=)
c.4217-3A= (n.4217-3A=)
c.923-6A= (n.923-6A=)
c.968-6A= (n.968-6A=)
c.4424-6A= (n.4424-6A=)
c.745-3A=
c.932-3A= (n.932-3A=)
c.*4141-3A= (n.*4141-3A=)
c.652-6A=
c.1049-6A= (n.1049-6A=)
c.671-3A= (n.671-3A=)
c.674-3A= (n.674-3A=)
c.5-12666A= (n.5-12666A=)
c.-43-2096A= (n.-43-2096A=)
c.-98-26427A= (n.-98-26427A=)
n.252-6A=
n.4494-3A=
n.4535-3A=
17g.43076618T>CCA913190345BRCA1c.4358-7A>G (n.4358-7A>G)
c.4358-4A>G (n.4358-4A>G)
c.4232-4A>G (n.4232-4A>G)
c.4352-4A>G (n.4352-4A>G)
c.4280-4A>G (n.4280-4A>G)
c.1046-4A>G (n.1046-4A>G)
c.908-4A>G (n.908-4A>G)
c.3470-4A>G (n.3470-4A>G)
c.4235-4A>G (n.4235-4A>G)
c.4424-4A>G (n.4424-4A>G)
c.4217-4A>G (n.4217-4A>G)
c.923-7A>G (n.923-7A>G)
c.968-7A>G (n.968-7A>G)
c.4424-7A>G (n.4424-7A>G)
c.745-4A>G
c.932-4A>G (n.932-4A>G)
c.*4141-4A>G (n.*4141-4A>G)
c.652-7A>G
c.1049-7A>G (n.1049-7A>G)
c.671-4A>G (n.671-4A>G)
c.674-4A>G (n.674-4A>G)
c.5-12667A>G (n.5-12667A>G)
c.-43-2097A>G (n.-43-2097A>G)
c.-98-26428A>G (n.-98-26428A>G)
n.252-7A>G
n.4494-4A>G
n.4535-4A>G
 ClinVar dbSNP
17g.43076618T=CA2260775563BRCA1c.4358-7A= (n.4358-7A=)
c.4358-4A= (n.4358-4A=)
c.4232-4A= (n.4232-4A=)
c.4352-4A= (n.4352-4A=)
c.4280-4A= (n.4280-4A=)
c.1046-4A= (n.1046-4A=)
c.908-4A= (n.908-4A=)
c.3470-4A= (n.3470-4A=)
c.4235-4A= (n.4235-4A=)
c.4424-4A= (n.4424-4A=)
c.4217-4A= (n.4217-4A=)
c.923-7A= (n.923-7A=)
c.968-7A= (n.968-7A=)
c.4424-7A= (n.4424-7A=)
c.745-4A=
c.932-4A= (n.932-4A=)
c.*4141-4A= (n.*4141-4A=)
c.652-7A=
c.1049-7A= (n.1049-7A=)
c.671-4A= (n.671-4A=)
c.674-4A= (n.674-4A=)
c.5-12667A= (n.5-12667A=)
c.-43-2097A= (n.-43-2097A=)
c.-98-26428A= (n.-98-26428A=)
n.252-7A=
n.4494-4A=
n.4535-4A=
17g.43076619A>TCA2733916992BRCA1c.4358-8T>A (n.4358-8T>A)
c.4358-5T>A (n.4358-5T>A)
c.4232-5T>A (n.4232-5T>A)
c.4352-5T>A (n.4352-5T>A)
c.4280-5T>A (n.4280-5T>A)
c.1046-5T>A (n.1046-5T>A)
c.908-5T>A (n.908-5T>A)
c.3470-5T>A (n.3470-5T>A)
c.4235-5T>A (n.4235-5T>A)
c.4424-5T>A (n.4424-5T>A)
c.4217-5T>A (n.4217-5T>A)
c.923-8T>A (n.923-8T>A)
c.968-8T>A (n.968-8T>A)
c.4424-8T>A (n.4424-8T>A)
c.745-5T>A
c.932-5T>A (n.932-5T>A)
c.*4141-5T>A (n.*4141-5T>A)
c.652-8T>A
c.1049-8T>A (n.1049-8T>A)
c.671-5T>A (n.671-5T>A)
c.674-5T>A (n.674-5T>A)
c.5-12668T>A (n.5-12668T>A)
c.-43-2098T>A (n.-43-2098T>A)
c.-98-26429T>A (n.-98-26429T>A)
n.252-8T>A
n.4494-5T>A
n.4535-5T>A
 dbSNP
17g.43076620A=CA2260775564BRCA1c.4358-9T= (n.4358-9T=)
c.4358-6T= (n.4358-6T=)
c.4232-6T= (n.4232-6T=)
c.4352-6T= (n.4352-6T=)
c.4280-6T= (n.4280-6T=)
c.1046-6T= (n.1046-6T=)
c.908-6T= (n.908-6T=)
c.3470-6T= (n.3470-6T=)
c.4235-6T= (n.4235-6T=)
c.4424-6T= (n.4424-6T=)
c.4217-6T= (n.4217-6T=)
c.923-9T= (n.923-9T=)
c.968-9T= (n.968-9T=)
c.4424-9T= (n.4424-9T=)
c.745-6T=
c.932-6T= (n.932-6T=)
c.*4141-6T= (n.*4141-6T=)
c.652-9T=
c.1049-9T= (n.1049-9T=)
c.671-6T= (n.671-6T=)
c.674-6T= (n.674-6T=)
c.5-12669T= (n.5-12669T=)
c.-43-2099T= (n.-43-2099T=)
c.-98-26430T= (n.-98-26430T=)
n.252-9T=
n.4494-6T=
n.4535-6T=
17g.43076620A>CCA2573153998BRCA1c.4358-9T>G (n.4358-9T>G)
c.4358-6T>G (n.4358-6T>G)
c.4232-6T>G (n.4232-6T>G)
c.4352-6T>G (n.4352-6T>G)
c.4280-6T>G (n.4280-6T>G)
c.1046-6T>G (n.1046-6T>G)
c.908-6T>G (n.908-6T>G)
c.3470-6T>G (n.3470-6T>G)
c.4235-6T>G (n.4235-6T>G)
c.4424-6T>G (n.4424-6T>G)
c.4217-6T>G (n.4217-6T>G)
c.923-9T>G (n.923-9T>G)
c.968-9T>G (n.968-9T>G)
c.4424-9T>G (n.4424-9T>G)
c.745-6T>G
c.932-6T>G (n.932-6T>G)
c.*4141-6T>G (n.*4141-6T>G)
c.652-9T>G
c.1049-9T>G (n.1049-9T>G)
c.671-6T>G (n.671-6T>G)
c.674-6T>G (n.674-6T>G)
c.5-12669T>G (n.5-12669T>G)
c.-43-2099T>G (n.-43-2099T>G)
c.-98-26430T>G (n.-98-26430T>G)
n.252-9T>G
n.4494-6T>G
n.4535-6T>G
 ClinVar dbSNP
17g.43076620A>GCA645373167BRCA1c.4358-9T>C (n.4358-9T>C)
c.4358-6T>C (n.4358-6T>C)
c.4232-6T>C (n.4232-6T>C)
c.4352-6T>C (n.4352-6T>C)
c.4280-6T>C (n.4280-6T>C)
c.1046-6T>C (n.1046-6T>C)
c.908-6T>C (n.908-6T>C)
c.3470-6T>C (n.3470-6T>C)
c.4235-6T>C (n.4235-6T>C)
c.4424-6T>C (n.4424-6T>C)
c.4217-6T>C (n.4217-6T>C)
c.923-9T>C (n.923-9T>C)
c.968-9T>C (n.968-9T>C)
c.4424-9T>C (n.4424-9T>C)
c.745-6T>C
c.932-6T>C (n.932-6T>C)
c.*4141-6T>C (n.*4141-6T>C)
c.652-9T>C
c.1049-9T>C (n.1049-9T>C)
c.671-6T>C (n.671-6T>C)
c.674-6T>C (n.674-6T>C)
c.5-12669T>C (n.5-12669T>C)
c.-43-2099T>C (n.-43-2099T>C)
c.-98-26430T>C (n.-98-26430T>C)
n.252-9T>C
n.4494-6T>C
n.4535-6T>C
 ClinVar dbSNP
17g.43076620_43076621insTCCTATATAGGTTTTTTGAACCTATAACCA626083551BRCA1c.4358-10_4358-9insGTTATAGGTTCAAAAAACCTATATAGGA (n.4358-10_4358-9insGTTATAGGTTCAAAAAACCTATATAGGA)
c.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.4358-7_4358-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.4232-7_4232-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.4232-7_4232-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.4352-7_4352-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.4352-7_4352-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.4280-7_4280-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.4280-7_4280-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.1046-7_1046-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.1046-7_1046-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.908-7_908-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.908-7_908-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.3470-7_3470-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.3470-7_3470-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.4235-7_4235-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.4235-7_4235-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.4424-7_4424-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.4424-7_4424-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.4217-7_4217-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.923-10_923-9insGTTATAGGTTCAAAAAACCTATATAGGA (n.923-10_923-9insGTTATAGGTTCAAAAAACCTATATAGGA)
c.968-10_968-9insGTTATAGGTTCAAAAAACCTATATAGGA (n.968-10_968-9insGTTATAGGTTCAAAAAACCTATATAGGA)
c.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATATAGGA (n.4424-10_4424-9insGTTATAGGTTCAAAAAACCTATATAGGA)
c.745-7_745-6insGTTATAGGTTCAAAAAACCTATATAGGA
c.932-7_932-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.932-7_932-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.*4141-7_*4141-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.*4141-7_*4141-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.652-10_652-9insGTTATAGGTTCAAAAAACCTATATAGGA
c.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA (n.1049-10_1049-9insGTTATAGGTTCAAAAAACCTATATAGGA)
c.671-7_671-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.671-7_671-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.674-7_674-6insGTTATAGGTTCAAAAAACCTATATAGGA (n.674-7_674-6insGTTATAGGTTCAAAAAACCTATATAGGA)
c.5-12670_5-12669insGTTATAGGTTCAAAAAACCTATATAGGA (n.5-12670_5-12669insGTTATAGGTTCAAAAAACCTATATAGGA)
c.-43-2100_-43-2099insGTTATAGGTTCAAAAAACCTATATAGGA (n.-43-2100_-43-2099insGTTATAGGTTCAAAAAACCTATATAGGA)
c.-98-26431_-98-26430insGTTATAGGTTCAAAAAACCTATATAGGA (n.-98-26431_-98-26430insGTTATAGGTTCAAAAAACCTATATAGGA)
n.252-10_252-9insGTTATAGGTTCAAAAAACCTATATAGGA
n.4494-7_4494-6insGTTATAGGTTCAAAAAACCTATATAGGA
n.4535-7_4535-6insGTTATAGGTTCAAAAAACCTATATAGGA
 dbSNP gnomAD v2
17g.43076621A=CA2260775565BRCA1c.4358-10T= (n.4358-10T=)
c.4358-7T= (n.4358-7T=)
c.4232-7T= (n.4232-7T=)
c.4352-7T= (n.4352-7T=)
c.4280-7T= (n.4280-7T=)
c.1046-7T= (n.1046-7T=)
c.908-7T= (n.908-7T=)
c.3470-7T= (n.3470-7T=)
c.4235-7T= (n.4235-7T=)
c.4424-7T= (n.4424-7T=)
c.4217-7T= (n.4217-7T=)
c.923-10T= (n.923-10T=)
c.968-10T= (n.968-10T=)
c.4424-10T= (n.4424-10T=)
c.745-7T=
c.932-7T= (n.932-7T=)
c.*4141-7T= (n.*4141-7T=)
c.652-10T=
c.1049-10T= (n.1049-10T=)
c.671-7T= (n.671-7T=)
c.674-7T= (n.674-7T=)
c.5-12670T= (n.5-12670T=)
c.-43-2100T= (n.-43-2100T=)
c.-98-26431T= (n.-98-26431T=)
n.252-10T=
n.4494-7T=
n.4535-7T=
17g.43076621A>GCA658656651BRCA1c.4358-10T>C (n.4358-10T>C)
c.4358-7T>C (n.4358-7T>C)
c.4232-7T>C (n.4232-7T>C)
c.4352-7T>C (n.4352-7T>C)
c.4280-7T>C (n.4280-7T>C)
c.1046-7T>C (n.1046-7T>C)
c.908-7T>C (n.908-7T>C)
c.3470-7T>C (n.3470-7T>C)
c.4235-7T>C (n.4235-7T>C)
c.4424-7T>C (n.4424-7T>C)
c.4217-7T>C (n.4217-7T>C)
c.923-10T>C (n.923-10T>C)
c.968-10T>C (n.968-10T>C)
c.4424-10T>C (n.4424-10T>C)
c.745-7T>C
c.932-7T>C (n.932-7T>C)
c.*4141-7T>C (n.*4141-7T>C)
c.652-10T>C
c.1049-10T>C (n.1049-10T>C)
c.671-7T>C (n.671-7T>C)
c.674-7T>C (n.674-7T>C)
c.5-12670T>C (n.5-12670T>C)
c.-43-2100T>C (n.-43-2100T>C)
c.-98-26431T>C (n.-98-26431T>C)
n.252-10T>C
n.4494-7T>C
n.4535-7T>C
 ClinVar dbSNP
17g.43076622T>ACA2499224417BRCA1c.4358-11A>T (n.4358-11A>T)
c.4358-8A>T (n.4358-8A>T)
c.4232-8A>T (n.4232-8A>T)
c.4352-8A>T (n.4352-8A>T)
c.4280-8A>T (n.4280-8A>T)
c.1046-8A>T (n.1046-8A>T)
c.908-8A>T (n.908-8A>T)
c.3470-8A>T (n.3470-8A>T)
c.4235-8A>T (n.4235-8A>T)
c.4424-8A>T (n.4424-8A>T)
c.4217-8A>T (n.4217-8A>T)
c.923-11A>T (n.923-11A>T)
c.968-11A>T (n.968-11A>T)
c.4424-11A>T (n.4424-11A>T)
c.745-8A>T
c.932-8A>T (n.932-8A>T)
c.*4141-8A>T (n.*4141-8A>T)
c.652-11A>T
c.1049-11A>T (n.1049-11A>T)
c.671-8A>T (n.671-8A>T)
c.674-8A>T (n.674-8A>T)
c.5-12671A>T (n.5-12671A>T)
c.-43-2101A>T (n.-43-2101A>T)
c.-98-26432A>T (n.-98-26432A>T)
n.252-11A>T
n.4494-8A>T
n.4535-8A>T
 ClinVar dbSNP
17g.43076622T>CCA2697559977BRCA1c.4358-11A>G (n.4358-11A>G)
c.4358-8A>G (n.4358-8A>G)
c.4232-8A>G (n.4232-8A>G)
c.4352-8A>G (n.4352-8A>G)
c.4280-8A>G (n.4280-8A>G)
c.1046-8A>G (n.1046-8A>G)
c.908-8A>G (n.908-8A>G)
c.3470-8A>G (n.3470-8A>G)
c.4235-8A>G (n.4235-8A>G)
c.4424-8A>G (n.4424-8A>G)
c.4217-8A>G (n.4217-8A>G)
c.923-11A>G (n.923-11A>G)
c.968-11A>G (n.968-11A>G)
c.4424-11A>G (n.4424-11A>G)
c.745-8A>G
c.932-8A>G (n.932-8A>G)
c.*4141-8A>G (n.*4141-8A>G)
c.652-11A>G
c.1049-11A>G (n.1049-11A>G)
c.671-8A>G (n.671-8A>G)
c.674-8A>G (n.674-8A>G)
c.5-12671A>G (n.5-12671A>G)
c.-43-2101A>G (n.-43-2101A>G)
c.-98-26432A>G (n.-98-26432A>G)
n.252-11A>G
n.4494-8A>G
n.4535-8A>G
 ClinVar
17g.43076623G>ACA16607609BRCA1c.4358-12C>T (n.4358-12C>T)
c.4358-9C>T (n.4358-9C>T)
c.4232-9C>T (n.4232-9C>T)
c.4352-9C>T (n.4352-9C>T)
c.4280-9C>T (n.4280-9C>T)
c.1046-9C>T (n.1046-9C>T)
c.908-9C>T (n.908-9C>T)
c.3470-9C>T (n.3470-9C>T)
c.4235-9C>T (n.4235-9C>T)
c.4424-9C>T (n.4424-9C>T)
c.4217-9C>T (n.4217-9C>T)
c.923-12C>T (n.923-12C>T)
c.968-12C>T (n.968-12C>T)
c.4424-12C>T (n.4424-12C>T)
c.745-9C>T
c.932-9C>T (n.932-9C>T)
c.*4141-9C>T (n.*4141-9C>T)
c.652-12C>T
c.1049-12C>T (n.1049-12C>T)
c.671-9C>T (n.671-9C>T)
c.674-9C>T (n.674-9C>T)
c.5-12672C>T (n.5-12672C>T)
c.-43-2102C>T (n.-43-2102C>T)
c.-98-26433C>T (n.-98-26433C>T)
n.252-12C>T
n.4494-9C>T
n.4535-9C>T
 ClinVar dbSNP
17g.43076623G>CCA2733658940BRCA1c.4358-12C>G (n.4358-12C>G)
c.4358-9C>G (n.4358-9C>G)
c.4232-9C>G (n.4232-9C>G)
c.4352-9C>G (n.4352-9C>G)
c.4280-9C>G (n.4280-9C>G)
c.1046-9C>G (n.1046-9C>G)
c.908-9C>G (n.908-9C>G)
c.3470-9C>G (n.3470-9C>G)
c.4235-9C>G (n.4235-9C>G)
c.4424-9C>G (n.4424-9C>G)
c.4217-9C>G (n.4217-9C>G)
c.923-12C>G (n.923-12C>G)
c.968-12C>G (n.968-12C>G)
c.4424-12C>G (n.4424-12C>G)
c.745-9C>G
c.932-9C>G (n.932-9C>G)
c.*4141-9C>G (n.*4141-9C>G)
c.652-12C>G
c.1049-12C>G (n.1049-12C>G)
c.671-9C>G (n.671-9C>G)
c.674-9C>G (n.674-9C>G)
c.5-12672C>G (n.5-12672C>G)
c.-43-2102C>G (n.-43-2102C>G)
c.-98-26433C>G (n.-98-26433C>G)
n.252-12C>G
n.4494-9C>G
n.4535-9C>G
 dbSNP
17g.43076623G=CA2260775566BRCA1c.4358-12C= (n.4358-12C=)
c.4358-9C= (n.4358-9C=)
c.4232-9C= (n.4232-9C=)
c.4352-9C= (n.4352-9C=)
c.4280-9C= (n.4280-9C=)
c.1046-9C= (n.1046-9C=)
c.908-9C= (n.908-9C=)
c.3470-9C= (n.3470-9C=)
c.4235-9C= (n.4235-9C=)
c.4424-9C= (n.4424-9C=)
c.4217-9C= (n.4217-9C=)
c.923-12C= (n.923-12C=)
c.968-12C= (n.968-12C=)
c.4424-12C= (n.4424-12C=)
c.745-9C=
c.932-9C= (n.932-9C=)
c.*4141-9C= (n.*4141-9C=)
c.652-12C=
c.1049-12C= (n.1049-12C=)
c.671-9C= (n.671-9C=)
c.674-9C= (n.674-9C=)
c.5-12672C= (n.5-12672C=)
c.-43-2102C= (n.-43-2102C=)
c.-98-26433C= (n.-98-26433C=)
n.252-12C=
n.4494-9C=
n.4535-9C=
17g.43076623G>TCA913188859BRCA1c.4358-12C>A (n.4358-12C>A)
c.4358-9C>A (n.4358-9C>A)
c.4232-9C>A (n.4232-9C>A)
c.4352-9C>A (n.4352-9C>A)
c.4280-9C>A (n.4280-9C>A)
c.1046-9C>A (n.1046-9C>A)
c.908-9C>A (n.908-9C>A)
c.3470-9C>A (n.3470-9C>A)
c.4235-9C>A (n.4235-9C>A)
c.4424-9C>A (n.4424-9C>A)
c.4217-9C>A (n.4217-9C>A)
c.923-12C>A (n.923-12C>A)
c.968-12C>A (n.968-12C>A)
c.4424-12C>A (n.4424-12C>A)
c.745-9C>A
c.932-9C>A (n.932-9C>A)
c.*4141-9C>A (n.*4141-9C>A)
c.652-12C>A
c.1049-12C>A (n.1049-12C>A)
c.671-9C>A (n.671-9C>A)
c.674-9C>A (n.674-9C>A)
c.5-12672C>A (n.5-12672C>A)
c.-43-2102C>A (n.-43-2102C>A)
c.-98-26433C>A (n.-98-26433C>A)
n.252-12C>A
n.4494-9C>A
n.4535-9C>A
 ClinVar dbSNP
17g.43076624G>ACA002796BRCA1c.4358-13C>T (n.4358-13C>T)
c.4358-10C>T (n.4358-10C>T)
c.4232-10C>T (n.4232-10C>T)
c.4352-10C>T (n.4352-10C>T)
c.4280-10C>T (n.4280-10C>T)
c.1046-10C>T (n.1046-10C>T)
c.908-10C>T (n.908-10C>T)
c.3470-10C>T (n.3470-10C>T)
c.4235-10C>T (n.4235-10C>T)
c.4424-10C>T (n.4424-10C>T)
c.4217-10C>T (n.4217-10C>T)
c.923-13C>T (n.923-13C>T)
c.968-13C>T (n.968-13C>T)
c.4424-13C>T (n.4424-13C>T)
c.745-10C>T
c.932-10C>T (n.932-10C>T)
c.*4141-10C>T (n.*4141-10C>T)
c.652-13C>T
c.1049-13C>T (n.1049-13C>T)
c.671-10C>T (n.671-10C>T)
c.674-10C>T (n.674-10C>T)
c.5-12673C>T (n.5-12673C>T)
c.-43-2103C>T (n.-43-2103C>T)
c.-98-26434C>T (n.-98-26434C>T)
n.252-13C>T
n.4494-10C>T
n.4535-10C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.43076624G>CCA2733641876BRCA1c.4358-13C>G (n.4358-13C>G)
c.4358-10C>G (n.4358-10C>G)
c.4232-10C>G (n.4232-10C>G)
c.4352-10C>G (n.4352-10C>G)
c.4280-10C>G (n.4280-10C>G)
c.1046-10C>G (n.1046-10C>G)
c.908-10C>G (n.908-10C>G)
c.3470-10C>G (n.3470-10C>G)
c.4235-10C>G (n.4235-10C>G)
c.4424-10C>G (n.4424-10C>G)
c.4217-10C>G (n.4217-10C>G)
c.923-13C>G (n.923-13C>G)
c.968-13C>G (n.968-13C>G)
c.4424-13C>G (n.4424-13C>G)
c.745-10C>G
c.932-10C>G (n.932-10C>G)
c.*4141-10C>G (n.*4141-10C>G)
c.652-13C>G
c.1049-13C>G (n.1049-13C>G)
c.671-10C>G (n.671-10C>G)
c.674-10C>G (n.674-10C>G)
c.5-12673C>G (n.5-12673C>G)
c.-43-2103C>G (n.-43-2103C>G)
c.-98-26434C>G (n.-98-26434C>G)
n.252-13C>G
n.4494-10C>G
n.4535-10C>G
 dbSNP
17g.43076624G=CA2260775567BRCA1c.4358-13C= (n.4358-13C=)
c.4358-10C= (n.4358-10C=)
c.4232-10C= (n.4232-10C=)
c.4352-10C= (n.4352-10C=)
c.4280-10C= (n.4280-10C=)
c.1046-10C= (n.1046-10C=)
c.908-10C= (n.908-10C=)
c.3470-10C= (n.3470-10C=)
c.4235-10C= (n.4235-10C=)
c.4424-10C= (n.4424-10C=)
c.4217-10C= (n.4217-10C=)
c.923-13C= (n.923-13C=)
c.968-13C= (n.968-13C=)
c.4424-13C= (n.4424-13C=)
c.745-10C=
c.932-10C= (n.932-10C=)
c.*4141-10C= (n.*4141-10C=)
c.652-13C=
c.1049-13C= (n.1049-13C=)
c.671-10C= (n.671-10C=)
c.674-10C= (n.674-10C=)
c.5-12673C= (n.5-12673C=)
c.-43-2103C= (n.-43-2103C=)
c.-98-26434C= (n.-98-26434C=)
n.252-13C=
n.4494-10C=
n.4535-10C=
17g.43076624G>TCA2733641877BRCA1c.4358-13C>A (n.4358-13C>A)
c.4358-10C>A (n.4358-10C>A)
c.4232-10C>A (n.4232-10C>A)
c.4352-10C>A (n.4352-10C>A)
c.4280-10C>A (n.4280-10C>A)
c.1046-10C>A (n.1046-10C>A)
c.908-10C>A (n.908-10C>A)
c.3470-10C>A (n.3470-10C>A)
c.4235-10C>A (n.4235-10C>A)
c.4424-10C>A (n.4424-10C>A)
c.4217-10C>A (n.4217-10C>A)
c.923-13C>A (n.923-13C>A)
c.968-13C>A (n.968-13C>A)
c.4424-13C>A (n.4424-13C>A)
c.745-10C>A
c.932-10C>A (n.932-10C>A)
c.*4141-10C>A (n.*4141-10C>A)
c.652-13C>A
c.1049-13C>A (n.1049-13C>A)
c.671-10C>A (n.671-10C>A)
c.674-10C>A (n.674-10C>A)
c.5-12673C>A (n.5-12673C>A)
c.-43-2103C>A (n.-43-2103C>A)
c.-98-26434C>A (n.-98-26434C>A)
n.252-13C>A
n.4494-10C>A
n.4535-10C>A
 dbSNP
17g.43076625A>TCA2733917057BRCA1c.4358-14T>A (n.4358-14T>A)
c.4358-11T>A (n.4358-11T>A)
c.4232-11T>A (n.4232-11T>A)
c.4352-11T>A (n.4352-11T>A)
c.4280-11T>A (n.4280-11T>A)
c.1046-11T>A (n.1046-11T>A)
c.908-11T>A (n.908-11T>A)
c.3470-11T>A (n.3470-11T>A)
c.4235-11T>A (n.4235-11T>A)
c.4424-11T>A (n.4424-11T>A)
c.4217-11T>A (n.4217-11T>A)
c.923-14T>A (n.923-14T>A)
c.968-14T>A (n.968-14T>A)
c.4424-14T>A (n.4424-14T>A)
c.745-11T>A
c.932-11T>A (n.932-11T>A)
c.*4141-11T>A (n.*4141-11T>A)
c.652-14T>A
c.1049-14T>A (n.1049-14T>A)
c.671-11T>A (n.671-11T>A)
c.674-11T>A (n.674-11T>A)
c.5-12674T>A (n.5-12674T>A)
c.-43-2104T>A (n.-43-2104T>A)
c.-98-26435T>A (n.-98-26435T>A)
n.252-14T>A
n.4494-11T>A
n.4535-11T>A
 dbSNP
17g.43076626A>GCA2573153999BRCA1c.4358-15T>C (n.4358-15T>C)
c.4358-12T>C (n.4358-12T>C)
c.4232-12T>C (n.4232-12T>C)
c.4352-12T>C (n.4352-12T>C)
c.4280-12T>C (n.4280-12T>C)
c.1046-12T>C (n.1046-12T>C)
c.908-12T>C (n.908-12T>C)
c.3470-12T>C (n.3470-12T>C)
c.4235-12T>C (n.4235-12T>C)
c.4424-12T>C (n.4424-12T>C)
c.4217-12T>C (n.4217-12T>C)
c.923-15T>C (n.923-15T>C)
c.968-15T>C (n.968-15T>C)
c.4424-15T>C (n.4424-15T>C)
c.745-12T>C
c.932-12T>C (n.932-12T>C)
c.*4141-12T>C (n.*4141-12T>C)
c.652-15T>C
c.1049-15T>C (n.1049-15T>C)
c.671-12T>C (n.671-12T>C)
c.674-12T>C (n.674-12T>C)
c.5-12675T>C (n.5-12675T>C)
c.-43-2105T>C (n.-43-2105T>C)
c.-98-26436T>C (n.-98-26436T>C)
n.252-15T>C
n.4494-12T>C
n.4535-12T>C
 ClinVar dbSNP

Number of alleles fetched