Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43063955_43071241delCA10575957BRCA1c.4674_5072del
c.4677_5075del
c.4551_4949del
c.4671_5069del
c.4599_4997del
c.1365_1763del
c.1227_1625del
c.3789_4187del
c.4554_4952del
c.4743_5141del
c.4536_4934del
c.1239_1637del
c.4740_5138del
c.1064_1462del
c.1251_1649del
c.*4460_*4858del
c.990_1388del
c.5-7286_5del
c.150_548del
c.-98-21047_-98-13761del (n.-98-21047_-98-13761del)
n.4813_5211del
n.4854_5252del
 ClinVar
17g.43066661_43072815delCA913190336BRCA1c.4672+1532_5071+963del
c.4675+1532_5074+963del
c.4549+1532_4948+963del
c.4669+1532_5068+963del
c.4597+1532_4996+963del
c.1363+1532_1762+963del
c.1225+1532_1624+963del
c.3787+1532_4186+963del
c.4552+1532_4951+963del
c.4741+1532_5140+963del
c.4534+1532_4933+963del
c.1237+1532_1636+963del
c.4738+1532_5137+963del
c.1062+1532_1461+963del
c.1249+1532_1648+963del
c.*4458+1532_*4857+963del
c.988+1532_1387+963del
c.5-8848_5-2694del (n.5-8848_5-2694del)
c.148+1532_547+963del
c.-98-22609_-98-16455del (n.-98-22609_-98-16455del)
n.4811+1532_5210+963del
n.4852+1532_5251+963del
 ClinVar
17g.43067611_43071241delCA2581463406BRCA1c.4673_5071del
c.4676_5074del
c.4550_4948del
c.4670_5068del
c.4598_4996del
c.1364_1762del
c.1226_1624del
c.3788_4186del
c.4553_4951del
c.4742_5140del
c.4535_4933del
c.1238_1636del
c.4739_5137del
c.1063_1461del
c.1250_1648del
c.*4459_*4857del
c.989_1387del
c.5-7287_5-3657del (n.5-7287_5-3657del)
c.149_547del
c.-98-21048_-98-17418del (n.-98-21048_-98-17418del)
n.4812_5210del
n.4853_5251del
17g.43070037_43072667delCA10602585BRCA1c.4673-1420_4983+900del
c.4676-1420_4986+900del
c.4550-1420_4860+900del
c.4670-1420_4980+900del
c.4598-1420_4908+900del
c.1364-1420_1674+900del
c.1226-1420_1536+900del
c.3788-1420_4098+900del
c.4553-1420_4863+900del
c.4742-1420_5052+900del
c.4535-1420_4845+900del
c.1238-1420_1548+900del
c.4739-1420_5049+900del
c.1063-1420_1373+900del
c.1250-1420_1560+900del
c.*4459-1420_*4769+900del
c.989-1420_1299+900del
c.5-8707_5-6077del (n.5-8707_5-6077del)
c.149-1420_459+900del
c.-98-22468_-98-19838del (n.-98-22468_-98-19838del)
n.4812-1420_5122+900del
n.4853-1420_5163+900del
 ClinVar
17g.43070145_43072775delCA2697559917BRCA1c.4673-1528_4983+792del
c.4676-1528_4986+792del
c.4550-1528_4860+792del
c.4670-1528_4980+792del
c.4598-1528_4908+792del
c.1364-1528_1674+792del
c.1226-1528_1536+792del
c.3788-1528_4098+792del
c.4553-1528_4863+792del
c.4742-1528_5052+792del
c.4535-1528_4845+792del
c.1238-1528_1548+792del
c.4739-1528_5049+792del
c.1063-1528_1373+792del
c.1250-1528_1560+792del
c.*4459-1528_*4769+792del
c.989-1528_1299+792del
c.5-8815_5-6185del (n.5-8815_5-6185del)
c.149-1528_459+792del
c.-98-22576_-98-19946del (n.-98-22576_-98-19946del)
n.4812-1528_5122+792del
n.4853-1528_5163+792del
 ClinVar
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.43070929_43070948delinsAATTCTTCTGGGGTCAGGCCCA2260772732BRCA1c.4963_4982delinsGGCCTGACCCCAGAAGAATT (p.Gly1655=)
c.4966_4985delinsGGCCTGACCCCAGAAGAATT (p.Gly1656=)
c.4840_4859delinsGGCCTGACCCCAGAAGAATT (p.Gly1614=)
c.4960_4979delinsGGCCTGACCCCAGAAGAATT (p.Gly1654=)
c.4888_4907delinsGGCCTGACCCCAGAAGAATT (p.Gly1630=)
c.1654_1673delinsGGCCTGACCCCAGAAGAATT (p.Gly552=)
c.1516_1535delinsGGCCTGACCCCAGAAGAATT (p.Gly506=)
c.4078_4097delinsGGCCTGACCCCAGAAGAATT (p.Gly1360=)
c.4843_4862delinsGGCCTGACCCCAGAAGAATT (p.Gly1615=)
c.5032_5051delinsGGCCTGACCCCAGAAGAATT (p.Gly1678=)
c.4825_4844delinsGGCCTGACCCCAGAAGAATT (p.Gly1609=)
c.1528_1547delinsGGCCTGACCCCAGAAGAATT (p.Gly510=)
c.1573_1592delinsGGCCTGACCCCAGAAGAATT (p.Gly525=)
c.5029_5048delinsGGCCTGACCCCAGAAGAATT (p.Gly1677=)
c.1353_1372delinsGGCCTGACCCCAGAAGAATT
c.1540_1559delinsGGCCTGACCCCAGAAGAATT (p.Gly514=)
c.*4749_*4768delinsGGCCTGACCCCAGAAGAATT (n.*4749_*4768delinsGGCCTGACCCCAGAAGAATT)
n.119_138delinsGGCCTGACCCCAGAAGAATT
c.1279_1298delinsGGCCTGACCCCAGAAGAATT (p.Gly427=)
c.5-6997_5-6978delinsGGCCTGACCCCAGAAGAATT (n.5-6997_5-6978delinsGGCCTGACCCCAGAAGAATT)
c.439_458delinsGGCCTGACCCCAGAAGAATT (p.Gly147=)
c.-98-20758_-98-20739delinsGGCCTGACCCCAGAAGAATT (n.-98-20758_-98-20739delinsGGCCTGACCCCAGAAGAATT)
n.5102_5121delinsGGCCTGACCCCAGAAGAATT
n.5143_5162delinsGGCCTGACCCCAGAAGAATT
17g.43070930_43070933delinsATTCCA2260772734BRCA1c.4978_4981delinsGAAT (p.Glu1660=)
c.4981_4984delinsGAAT (p.Glu1661=)
c.4855_4858delinsGAAT (p.Glu1619=)
c.4975_4978delinsGAAT (p.Glu1659=)
c.4903_4906delinsGAAT (p.Glu1635=)
c.1669_1672delinsGAAT (p.Glu557=)
c.1531_1534delinsGAAT (p.Glu511=)
c.4093_4096delinsGAAT (p.Glu1365=)
c.4858_4861delinsGAAT (p.Glu1620=)
c.5047_5050delinsGAAT (p.Glu1683=)
c.4840_4843delinsGAAT (p.Glu1614=)
c.1543_1546delinsGAAT (p.Glu515=)
c.1588_1591delinsGAAT (p.Glu530=)
c.5044_5047delinsGAAT (p.Glu1682=)
c.1368_1371delinsGAAT
c.1555_1558delinsGAAT (p.Glu519=)
c.*4764_*4767delinsGAAT (n.*4764_*4767delinsGAAT)
n.134_137delinsGAAT
c.1294_1297delinsGAAT (p.Glu432=)
c.5-6982_5-6979delinsGAAT (n.5-6982_5-6979delinsGAAT)
c.454_457delinsGAAT (p.Glu152=)
c.-98-20743_-98-20740delinsGAAT (n.-98-20743_-98-20740delinsGAAT)
n.5117_5120delinsGAAT
n.5158_5161delinsGAAT
17g.43070931_43070949delCA003113BRCA1c.4963_4981del (p.Gly1655LeufsTer15)
c.4966_4984del (p.Gly1656LeufsTer15)
c.4840_4858del (p.Gly1614LeufsTer15)
c.4960_4978del (p.Gly1654LeufsTer15)
c.4888_4906del (p.Gly1630LeufsTer15)
c.1654_1672del (p.Gly552LeufsTer15)
c.1516_1534del (p.Gly506LeufsTer15)
c.4078_4096del (p.Gly1360LeufsTer15)
c.4843_4861del (p.Gly1615LeufsTer15)
c.5032_5050del (p.Gly1678LeufsTer15)
c.4825_4843del (p.Gly1609LeufsTer15)
c.1528_1546del (p.Gly510LeufsTer15)
c.1573_1591del (p.Gly525LeufsTer2)
c.5029_5047del (p.Gly1677LeufsTer15)
c.1353_1371del
c.1540_1558del (p.Gly514LeufsTer15)
c.*4749_*4767del (n.*4749_*4767del)
n.119_137del
c.1279_1297del (p.Gly427LeufsTer15)
c.5-6997_5-6979del (n.5-6997_5-6979del)
c.439_457del (p.Gly147LeufsTer15)
c.-98-20758_-98-20740del (n.-98-20758_-98-20740del)
n.5102_5120del
n.5143_5161del
 ClinVar dbSNP
17g.43070935_43070937delCA915950101BRCA1c.4978_4980del (p.Glu1660del)
c.4981_4983del (p.Glu1661del)
c.4855_4857del (p.Glu1619del)
c.4975_4977del (p.Glu1659del)
c.4903_4905del (p.Glu1635del)
c.1669_1671del (p.Glu557del)
c.1531_1533del (p.Glu511del)
c.4093_4095del (p.Glu1365del)
c.4858_4860del (p.Glu1620del)
c.5047_5049del (p.Glu1683del)
c.4840_4842del (p.Glu1614del)
c.1543_1545del (p.Glu515del)
c.1588_1590del (p.Glu530del)
c.5044_5046del (p.Glu1682del)
c.1368_1370del
c.1555_1557del (p.Glu519del)
c.*4764_*4766del (n.*4764_*4766del)
n.134_136del
c.1294_1296del (p.Glu432del)
c.5-6982_5-6980del (n.5-6982_5-6980del)
c.454_456del (p.Glu152del)
c.-98-20743_-98-20741del (n.-98-20743_-98-20741del)
n.5117_5119del
n.5158_5160del
 ClinVar dbSNP
17g.43070931_43070950delinsTTCTTCTGGGGTCAGGCCAGCA2260772735BRCA1c.4961_4980delinsCTGGCCTGACCCCAGAAGAA (p.Ser1654=)
c.4964_4983delinsCTGGCCTGACCCCAGAAGAA (p.Ser1655=)
c.4838_4857delinsCTGGCCTGACCCCAGAAGAA (p.Ser1613=)
c.4958_4977delinsCTGGCCTGACCCCAGAAGAA (p.Ser1653=)
c.4886_4905delinsCTGGCCTGACCCCAGAAGAA (p.Ser1629=)
c.1652_1671delinsCTGGCCTGACCCCAGAAGAA (p.Ser551=)
c.1514_1533delinsCTGGCCTGACCCCAGAAGAA (p.Ser505=)
c.4076_4095delinsCTGGCCTGACCCCAGAAGAA (p.Ser1359=)
c.4841_4860delinsCTGGCCTGACCCCAGAAGAA (p.Ser1614=)
c.5030_5049delinsCTGGCCTGACCCCAGAAGAA (p.Ser1677=)
c.4823_4842delinsCTGGCCTGACCCCAGAAGAA (p.Ser1608=)
c.1526_1545delinsCTGGCCTGACCCCAGAAGAA (p.Ser509=)
c.1571_1590delinsCTGGCCTGACCCCAGAAGAA (p.Ser524=)
c.5027_5046delinsCTGGCCTGACCCCAGAAGAA (p.Ser1676=)
c.1351_1370delinsCTGGCCTGACCCCAGAAGAA
c.1538_1557delinsCTGGCCTGACCCCAGAAGAA (p.Ser513=)
c.*4747_*4766delinsCTGGCCTGACCCCAGAAGAA (n.*4747_*4766delinsCTGGCCTGACCCCAGAAGAA)
n.117_136delinsCTGGCCTGACCCCAGAAGAA
c.1277_1296delinsCTGGCCTGACCCCAGAAGAA (p.Ser426=)
c.5-6999_5-6980delinsCTGGCCTGACCCCAGAAGAA (n.5-6999_5-6980delinsCTGGCCTGACCCCAGAAGAA)
c.437_456delinsCTGGCCTGACCCCAGAAGAA (p.Ser146=)
c.-98-20760_-98-20741delinsCTGGCCTGACCCCAGAAGAA (n.-98-20760_-98-20741delinsCTGGCCTGACCCCAGAAGAA)
n.5100_5119delinsCTGGCCTGACCCCAGAAGAA
n.5141_5160delinsCTGGCCTGACCCCAGAAGAA
17g.43070932T>ACA10591560BRCA1c.4979A>T (p.Glu1660Val)
c.4982A>T (p.Glu1661Val)
c.4856A>T (p.Glu1619Val)
c.4976A>T (p.Glu1659Val)
c.4904A>T (p.Glu1635Val)
c.1670A>T (p.Glu557Val)
c.1532A>T (p.Glu511Val)
c.4094A>T (p.Glu1365Val)
c.4859A>T (p.Glu1620Val)
c.5048A>T (p.Glu1683Val)
c.4841A>T (p.Glu1614Val)
c.1544A>T (p.Glu515Val)
c.1589A>T (p.Glu530Val)
c.5045A>T (p.Glu1682Val)
c.1369A>T
c.1556A>T (p.Glu519Val)
c.*4765A>T (n.*4765A>T)
n.135A>T
c.1295A>T (p.Glu432Val)
c.5-6981A>T (n.5-6981A>T)
c.455A>T (p.Glu152Val)
c.-98-20742A>T (n.-98-20742A>T)
n.5118A>T
n.5159A>T
 ClinVar dbSNP
17g.43070932T>CCA10591561BRCA1c.4979A>G (p.Glu1660Gly)
c.4982A>G (p.Glu1661Gly)
c.4856A>G (p.Glu1619Gly)
c.4976A>G (p.Glu1659Gly)
c.4904A>G (p.Glu1635Gly)
c.1670A>G (p.Glu557Gly)
c.1532A>G (p.Glu511Gly)
c.4094A>G (p.Glu1365Gly)
c.4859A>G (p.Glu1620Gly)
c.5048A>G (p.Glu1683Gly)
c.4841A>G (p.Glu1614Gly)
c.1544A>G (p.Glu515Gly)
c.1589A>G (p.Glu530Gly)
c.5045A>G (p.Glu1682Gly)
c.1369A>G
c.1556A>G (p.Glu519Gly)
c.*4765A>G (n.*4765A>G)
n.135A>G
c.1295A>G (p.Glu432Gly)
c.5-6981A>G (n.5-6981A>G)
c.455A>G (p.Glu152Gly)
c.-98-20742A>G (n.-98-20742A>G)
n.5118A>G
n.5159A>G
 ClinVar dbSNP
17g.43070932T>GCA10591562BRCA1c.4979A>C (p.Glu1660Ala)
c.4982A>C (p.Glu1661Ala)
c.4856A>C (p.Glu1619Ala)
c.4976A>C (p.Glu1659Ala)
c.4904A>C (p.Glu1635Ala)
c.1670A>C (p.Glu557Ala)
c.1532A>C (p.Glu511Ala)
c.4094A>C (p.Glu1365Ala)
c.4859A>C (p.Glu1620Ala)
c.5048A>C (p.Glu1683Ala)
c.4841A>C (p.Glu1614Ala)
c.1544A>C (p.Glu515Ala)
c.1589A>C (p.Glu530Ala)
c.5045A>C (p.Glu1682Ala)
c.1369A>C
c.1556A>C (p.Glu519Ala)
c.*4765A>C (n.*4765A>C)
n.135A>C
c.1295A>C (p.Glu432Ala)
c.5-6981A>C (n.5-6981A>C)
c.455A>C (p.Glu152Ala)
c.-98-20742A>C (n.-98-20742A>C)
n.5118A>C
n.5159A>C
 ClinVar dbSNP
17g.43070932T=CA2260772737BRCA1c.4979A= (p.Glu1660=)
c.4982A= (p.Glu1661=)
c.4856A= (p.Glu1619=)
c.4976A= (p.Glu1659=)
c.4904A= (p.Glu1635=)
c.1670A= (p.Glu557=)
c.1532A= (p.Glu511=)
c.4094A= (p.Glu1365=)
c.4859A= (p.Glu1620=)
c.5048A= (p.Glu1683=)
c.4841A= (p.Glu1614=)
c.1544A= (p.Glu515=)
c.1589A= (p.Glu530=)
c.5045A= (p.Glu1682=)
c.1369A=
c.1556A= (p.Glu519=)
c.*4765A= (n.*4765A=)
n.135A=
c.1295A= (p.Glu432=)
c.5-6981A= (n.5-6981A=)
c.455A= (p.Glu152=)
c.-98-20742A= (n.-98-20742A=)
n.5118A=
n.5159A=
17g.43070932_43070940delCA2697559918BRCA1c.4971_4979del (p.Pro1658_Glu1660del)
c.4974_4982del (p.Pro1659_Glu1661del)
c.4848_4856del (p.Pro1617_Glu1619del)
c.4968_4976del (p.Pro1657_Glu1659del)
c.4896_4904del (p.Pro1633_Glu1635del)
c.1662_1670del (p.Pro555_Glu557del)
c.1524_1532del (p.Pro509_Glu511del)
c.4086_4094del (p.Pro1363_Glu1365del)
c.4851_4859del (p.Pro1618_Glu1620del)
c.5040_5048del (p.Pro1681_Glu1683del)
c.4833_4841del (p.Pro1612_Glu1614del)
c.1536_1544del (p.Pro513_Glu515del)
c.1581_1589del (p.Pro528_Glu530del)
c.5037_5045del (p.Pro1680_Glu1682del)
c.1361_1369del
c.1548_1556del (p.Pro517_Glu519del)
c.*4757_*4765del (n.*4757_*4765del)
n.127_135del
c.1287_1295del (p.Pro430_Glu432del)
c.5-6989_5-6981del (n.5-6989_5-6981del)
c.447_455del (p.Pro150_Glu152del)
c.-98-20750_-98-20742del (n.-98-20750_-98-20742del)
n.5110_5118del
n.5151_5159del
 ClinVar
17g.43070932_43070950delCA003108BRCA1c.4961_4979del (p.Ser1654TyrfsTer16)
c.4964_4982del (p.Ser1655TyrfsTer16)
c.4838_4856del (p.Ser1613TyrfsTer16)
c.4958_4976del (p.Ser1653TyrfsTer16)
c.4886_4904del (p.Ser1629TyrfsTer16)
c.1652_1670del (p.Ser551TyrfsTer16)
c.1514_1532del (p.Ser505TyrfsTer16)
c.4076_4094del (p.Ser1359TyrfsTer16)
c.4841_4859del (p.Ser1614TyrfsTer16)
c.5030_5048del (p.Ser1677TyrfsTer16)
c.4823_4841del (p.Ser1608TyrfsTer16)
c.1526_1544del (p.Ser509TyrfsTer16)
c.1571_1589del (p.Ser524TyrfsTer3)
c.5027_5045del (p.Ser1676TyrfsTer16)
c.1351_1369del
c.1538_1556del (p.Ser513TyrfsTer16)
c.*4747_*4765del (n.*4747_*4765del)
n.117_135del
c.1277_1295del (p.Ser426TyrfsTer16)
c.5-6999_5-6981del (n.5-6999_5-6981del)
c.437_455del (p.Ser146TyrfsTer16)
c.-98-20760_-98-20742del (n.-98-20760_-98-20742del)
n.5100_5118del
n.5141_5159del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43070933C>ACA003116BRCA1c.4978G>T (p.Glu1660Ter)
c.4981G>T (p.Glu1661Ter)
c.4855G>T (p.Glu1619Ter)
c.4975G>T (p.Glu1659Ter)
c.4903G>T (p.Glu1635Ter)
c.1669G>T (p.Glu557Ter)
c.1531G>T (p.Glu511Ter)
c.4093G>T (p.Glu1365Ter)
c.4858G>T (p.Glu1620Ter)
c.5047G>T (p.Glu1683Ter)
c.4840G>T (p.Glu1614Ter)
c.1543G>T (p.Glu515Ter)
c.1588G>T (p.Glu530Ter)
c.5044G>T (p.Glu1682Ter)
c.1368G>T
c.1555G>T (p.Glu519Ter)
c.*4764G>T (n.*4764G>T)
n.134G>T
c.1294G>T (p.Glu432Ter)
c.5-6982G>T (n.5-6982G>T)
c.454G>T (p.Glu152Ter)
c.-98-20743G>T (n.-98-20743G>T)
n.5117G>T
n.5158G>T
 ClinVar dbSNP
17g.43070933C=CA2260772738BRCA1c.4978G= (p.Glu1660=)
c.4981G= (p.Glu1661=)
c.4855G= (p.Glu1619=)
c.4975G= (p.Glu1659=)
c.4903G= (p.Glu1635=)
c.1669G= (p.Glu557=)
c.1531G= (p.Glu511=)
c.4093G= (p.Glu1365=)
c.4858G= (p.Glu1620=)
c.5047G= (p.Glu1683=)
c.4840G= (p.Glu1614=)
c.1543G= (p.Glu515=)
c.1588G= (p.Glu530=)
c.5044G= (p.Glu1682=)
c.1368G=
c.1555G= (p.Glu519=)
c.*4764G= (n.*4764G=)
n.134G=
c.1294G= (p.Glu432=)
c.5-6982G= (n.5-6982G=)
c.454G= (p.Glu152=)
c.-98-20743G= (n.-98-20743G=)
n.5117G=
n.5158G=
17g.43070933C>GCA10591563BRCA1c.4978G>C (p.Glu1660Gln)
c.4981G>C (p.Glu1661Gln)
c.4855G>C (p.Glu1619Gln)
c.4975G>C (p.Glu1659Gln)
c.4903G>C (p.Glu1635Gln)
c.1669G>C (p.Glu557Gln)
c.1531G>C (p.Glu511Gln)
c.4093G>C (p.Glu1365Gln)
c.4858G>C (p.Glu1620Gln)
c.5047G>C (p.Glu1683Gln)
c.4840G>C (p.Glu1614Gln)
c.1543G>C (p.Glu515Gln)
c.1588G>C (p.Glu530Gln)
c.5044G>C (p.Glu1682Gln)
c.1368G>C
c.1555G>C (p.Glu519Gln)
c.*4764G>C (n.*4764G>C)
n.134G>C
c.1294G>C (p.Glu432Gln)
c.5-6982G>C (n.5-6982G>C)
c.454G>C (p.Glu152Gln)
c.-98-20743G>C (n.-98-20743G>C)
n.5117G>C
n.5158G>C
 ClinVar dbSNP
17g.43070933C>TCA10591564BRCA1c.4978G>A (p.Glu1660Lys)
c.4981G>A (p.Glu1661Lys)
c.4855G>A (p.Glu1619Lys)
c.4975G>A (p.Glu1659Lys)
c.4903G>A (p.Glu1635Lys)
c.1669G>A (p.Glu557Lys)
c.1531G>A (p.Glu511Lys)
c.4093G>A (p.Glu1365Lys)
c.4858G>A (p.Glu1620Lys)
c.5047G>A (p.Glu1683Lys)
c.4840G>A (p.Glu1614Lys)
c.1543G>A (p.Glu515Lys)
c.1588G>A (p.Glu530Lys)
c.5044G>A (p.Glu1682Lys)
c.1368G>A
c.1555G>A (p.Glu519Lys)
c.*4764G>A (n.*4764G>A)
n.134G>A
c.1294G>A (p.Glu432Lys)
c.5-6982G>A (n.5-6982G>A)
c.454G>A (p.Glu152Lys)
c.-98-20743G>A (n.-98-20743G>A)
n.5117G>A
n.5158G>A
 ClinVar dbSNP gnomAD v4
17g.43070934_43070952delCA658761200BRCA1c.4960_4978del (p.Ser1654AsnfsTer16)
c.4963_4981del (p.Ser1655AsnfsTer16)
c.4837_4855del (p.Ser1613AsnfsTer16)
c.4957_4975del (p.Ser1653AsnfsTer16)
c.4885_4903del (p.Ser1629AsnfsTer16)
c.1651_1669del (p.Ser551AsnfsTer16)
c.1513_1531del (p.Ser505AsnfsTer16)
c.4075_4093del (p.Ser1359AsnfsTer16)
c.4840_4858del (p.Ser1614AsnfsTer16)
c.5029_5047del (p.Ser1677AsnfsTer16)
c.4822_4840del (p.Ser1608AsnfsTer16)
c.1525_1543del (p.Ser509AsnfsTer16)
c.1570_1588del (p.Ser524AsnfsTer3)
c.5026_5044del (p.Ser1676AsnfsTer16)
c.1350_1368del
c.1537_1555del (p.Ser513AsnfsTer16)
c.*4746_*4764del (n.*4746_*4764del)
n.116_134del
c.1276_1294del (p.Ser426AsnfsTer16)
c.5-7000_5-6982del (n.5-7000_5-6982del)
c.436_454del (p.Ser146AsnfsTer16)
c.-98-20761_-98-20743del (n.-98-20761_-98-20743del)
n.5099_5117del
n.5140_5158del
17g.43070934T>ACA10591565BRCA1c.4977A>T (p.Glu1659Asp)
c.4980A>T (p.Glu1660Asp)
c.4854A>T (p.Glu1618Asp)
c.4974A>T (p.Glu1658Asp)
c.4902A>T (p.Glu1634Asp)
c.1668A>T (p.Glu556Asp)
c.1530A>T (p.Glu510Asp)
c.4092A>T (p.Glu1364Asp)
c.4857A>T (p.Glu1619Asp)
c.5046A>T (p.Glu1682Asp)
c.4839A>T (p.Glu1613Asp)
c.1542A>T (p.Glu514Asp)
c.1587A>T (p.Glu529Asp)
c.5043A>T (p.Glu1681Asp)
c.1367A>T
c.1554A>T (p.Glu518Asp)
c.*4763A>T (n.*4763A>T)
n.133A>T
c.1293A>T (p.Glu431Asp)
c.5-6983A>T (n.5-6983A>T)
c.453A>T (p.Glu151Asp)
c.-98-20744A>T (n.-98-20744A>T)
n.5116A>T
n.5157A>T
 ClinVar dbSNP
17g.43070934T>CCA500231518BRCA1c.4977A>G (p.Glu1659=)
c.4980A>G (p.Glu1660=)
c.4854A>G (p.Glu1618=)
c.4974A>G (p.Glu1658=)
c.4902A>G (p.Glu1634=)
c.1668A>G (p.Glu556=)
c.1530A>G (p.Glu510=)
c.4092A>G (p.Glu1364=)
c.4857A>G (p.Glu1619=)
c.5046A>G (p.Glu1682=)
c.4839A>G (p.Glu1613=)
c.1542A>G (p.Glu514=)
c.1587A>G (p.Glu529=)
c.5043A>G (p.Glu1681=)
c.1367A>G
c.1554A>G (p.Glu518=)
c.*4763A>G (n.*4763A>G)
n.133A>G
c.1293A>G (p.Glu431=)
c.5-6983A>G (n.5-6983A>G)
c.453A>G (p.Glu151=)
c.-98-20744A>G (n.-98-20744A>G)
n.5116A>G
n.5157A>G
 ClinVar dbSNP
17g.43070934T>GCA10591566BRCA1c.4977A>C (p.Glu1659Asp)
c.4980A>C (p.Glu1660Asp)
c.4854A>C (p.Glu1618Asp)
c.4974A>C (p.Glu1658Asp)
c.4902A>C (p.Glu1634Asp)
c.1668A>C (p.Glu556Asp)
c.1530A>C (p.Glu510Asp)
c.4092A>C (p.Glu1364Asp)
c.4857A>C (p.Glu1619Asp)
c.5046A>C (p.Glu1682Asp)
c.4839A>C (p.Glu1613Asp)
c.1542A>C (p.Glu514Asp)
c.1587A>C (p.Glu529Asp)
c.5043A>C (p.Glu1681Asp)
c.1367A>C
c.1554A>C (p.Glu518Asp)
c.*4763A>C (n.*4763A>C)
n.133A>C
c.1293A>C (p.Glu431Asp)
c.5-6983A>C (n.5-6983A>C)
c.453A>C (p.Glu151Asp)
c.-98-20744A>C (n.-98-20744A>C)
n.5116A>C
n.5157A>C
 ClinVar dbSNP
17g.43070934T=CA2260772740BRCA1c.4977A= (p.Glu1659=)
c.4980A= (p.Glu1660=)
c.4854A= (p.Glu1618=)
c.4974A= (p.Glu1658=)
c.4902A= (p.Glu1634=)
c.1668A= (p.Glu556=)
c.1530A= (p.Glu510=)
c.4092A= (p.Glu1364=)
c.4857A= (p.Glu1619=)
c.5046A= (p.Glu1682=)
c.4839A= (p.Glu1613=)
c.1542A= (p.Glu514=)
c.1587A= (p.Glu529=)
c.5043A= (p.Glu1681=)
c.1367A=
c.1554A= (p.Glu518=)
c.*4763A= (n.*4763A=)
n.133A=
c.1293A= (p.Glu431=)
c.5-6983A= (n.5-6983A=)
c.453A= (p.Glu151=)
c.-98-20744A= (n.-98-20744A=)
n.5116A=
n.5157A=
17g.43070934_43070950delinsTTCTGGGGTCAGGCCAGCA2260772739BRCA1c.4961_4977delinsCTGGCCTGACCCCAGAA (p.Ser1654=)
c.4964_4980delinsCTGGCCTGACCCCAGAA (p.Ser1655=)
c.4838_4854delinsCTGGCCTGACCCCAGAA (p.Ser1613=)
c.4958_4974delinsCTGGCCTGACCCCAGAA (p.Ser1653=)
c.4886_4902delinsCTGGCCTGACCCCAGAA (p.Ser1629=)
c.1652_1668delinsCTGGCCTGACCCCAGAA (p.Ser551=)
c.1514_1530delinsCTGGCCTGACCCCAGAA (p.Ser505=)
c.4076_4092delinsCTGGCCTGACCCCAGAA (p.Ser1359=)
c.4841_4857delinsCTGGCCTGACCCCAGAA (p.Ser1614=)
c.5030_5046delinsCTGGCCTGACCCCAGAA (p.Ser1677=)
c.4823_4839delinsCTGGCCTGACCCCAGAA (p.Ser1608=)
c.1526_1542delinsCTGGCCTGACCCCAGAA (p.Ser509=)
c.1571_1587delinsCTGGCCTGACCCCAGAA (p.Ser524=)
c.5027_5043delinsCTGGCCTGACCCCAGAA (p.Ser1676=)
c.1351_1367delinsCTGGCCTGACCCCAGAA
c.1538_1554delinsCTGGCCTGACCCCAGAA (p.Ser513=)
c.*4747_*4763delinsCTGGCCTGACCCCAGAA (n.*4747_*4763delinsCTGGCCTGACCCCAGAA)
n.117_133delinsCTGGCCTGACCCCAGAA
c.1277_1293delinsCTGGCCTGACCCCAGAA (p.Ser426=)
c.5-6999_5-6983delinsCTGGCCTGACCCCAGAA (n.5-6999_5-6983delinsCTGGCCTGACCCCAGAA)
c.437_453delinsCTGGCCTGACCCCAGAA (p.Ser146=)
c.-98-20760_-98-20744delinsCTGGCCTGACCCCAGAA (n.-98-20760_-98-20744delinsCTGGCCTGACCCCAGAA)
n.5100_5116delinsCTGGCCTGACCCCAGAA
n.5141_5157delinsCTGGCCTGACCCCAGAA
17g.43070935T>ACA10591567BRCA1c.4976A>T (p.Glu1659Val)
c.4979A>T (p.Glu1660Val)
c.4853A>T (p.Glu1618Val)
c.4973A>T (p.Glu1658Val)
c.4901A>T (p.Glu1634Val)
c.1667A>T (p.Glu556Val)
c.1529A>T (p.Glu510Val)
c.4091A>T (p.Glu1364Val)
c.4856A>T (p.Glu1619Val)
c.5045A>T (p.Glu1682Val)
c.4838A>T (p.Glu1613Val)
c.1541A>T (p.Glu514Val)
c.1586A>T (p.Glu529Val)
c.5042A>T (p.Glu1681Val)
c.1366A>T
c.1553A>T (p.Glu518Val)
c.*4762A>T (n.*4762A>T)
n.132A>T
c.1292A>T (p.Glu431Val)
c.5-6984A>T (n.5-6984A>T)
c.452A>T (p.Glu151Val)
c.-98-20745A>T (n.-98-20745A>T)
n.5115A>T
n.5156A>T
 ClinVar dbSNP
17g.43070935T>CCA10591568BRCA1c.4976A>G (p.Glu1659Gly)
c.4979A>G (p.Glu1660Gly)
c.4853A>G (p.Glu1618Gly)
c.4973A>G (p.Glu1658Gly)
c.4901A>G (p.Glu1634Gly)
c.1667A>G (p.Glu556Gly)
c.1529A>G (p.Glu510Gly)
c.4091A>G (p.Glu1364Gly)
c.4856A>G (p.Glu1619Gly)
c.5045A>G (p.Glu1682Gly)
c.4838A>G (p.Glu1613Gly)
c.1541A>G (p.Glu514Gly)
c.1586A>G (p.Glu529Gly)
c.5042A>G (p.Glu1681Gly)
c.1366A>G
c.1553A>G (p.Glu518Gly)
c.*4762A>G (n.*4762A>G)
n.132A>G
c.1292A>G (p.Glu431Gly)
c.5-6984A>G (n.5-6984A>G)
c.452A>G (p.Glu151Gly)
c.-98-20745A>G (n.-98-20745A>G)
n.5115A>G
n.5156A>G
 ClinVar dbSNP gnomAD v4
17g.43070935T>GCA10591569BRCA1c.4976A>C (p.Glu1659Ala)
c.4979A>C (p.Glu1660Ala)
c.4853A>C (p.Glu1618Ala)
c.4973A>C (p.Glu1658Ala)
c.4901A>C (p.Glu1634Ala)
c.1667A>C (p.Glu556Ala)
c.1529A>C (p.Glu510Ala)
c.4091A>C (p.Glu1364Ala)
c.4856A>C (p.Glu1619Ala)
c.5045A>C (p.Glu1682Ala)
c.4838A>C (p.Glu1613Ala)
c.1541A>C (p.Glu514Ala)
c.1586A>C (p.Glu529Ala)
c.5042A>C (p.Glu1681Ala)
c.1366A>C
c.1553A>C (p.Glu518Ala)
c.*4762A>C (n.*4762A>C)
n.132A>C
c.1292A>C (p.Glu431Ala)
c.5-6984A>C (n.5-6984A>C)
c.452A>C (p.Glu151Ala)
c.-98-20745A>C (n.-98-20745A>C)
n.5115A>C
n.5156A>C
 ClinVar dbSNP
17g.43070935T=CA2260772741BRCA1c.4976A= (p.Glu1659=)
c.4979A= (p.Glu1660=)
c.4853A= (p.Glu1618=)
c.4973A= (p.Glu1658=)
c.4901A= (p.Glu1634=)
c.1667A= (p.Glu556=)
c.1529A= (p.Glu510=)
c.4091A= (p.Glu1364=)
c.4856A= (p.Glu1619=)
c.5045A= (p.Glu1682=)
c.4838A= (p.Glu1613=)
c.1541A= (p.Glu514=)
c.1586A= (p.Glu529=)
c.5042A= (p.Glu1681=)
c.1366A=
c.1553A= (p.Glu518=)
c.*4762A= (n.*4762A=)
n.132A=
c.1292A= (p.Glu431=)
c.5-6984A= (n.5-6984A=)
c.452A= (p.Glu151=)
c.-98-20745A= (n.-98-20745A=)
n.5115A=
n.5156A=
17g.43070935_43070950delCA003106BRCA1c.4961_4976del (p.Ser1654Ter)
c.4964_4979del (p.Ser1655Ter)
c.4838_4853del (p.Ser1613Ter)
c.4958_4973del (p.Ser1653Ter)
c.4886_4901del (p.Ser1629Ter)
c.1652_1667del (p.Ser551Ter)
c.1514_1529del (p.Ser505Ter)
c.4076_4091del (p.Ser1359Ter)
c.4841_4856del (p.Ser1614Ter)
c.5030_5045del (p.Ser1677Ter)
c.4823_4838del (p.Ser1608Ter)
c.1526_1541del (p.Ser509Ter)
c.1571_1586del (p.Ser524Ter)
c.5027_5042del (p.Ser1676Ter)
c.1351_1366del
c.1538_1553del (p.Ser513Ter)
c.*4747_*4762del (n.*4747_*4762del)
n.117_132del
c.1277_1292del (p.Ser426Ter)
c.5-6999_5-6984del (n.5-6999_5-6984del)
c.437_452del (p.Ser146Ter)
c.-98-20760_-98-20745del (n.-98-20760_-98-20745del)
n.5100_5115del
n.5141_5156del
 ClinVar dbSNP
17g.43070936C>ACA10591570BRCA1c.4975G>T (p.Glu1659Ter)
c.4978G>T (p.Glu1660Ter)
c.4852G>T (p.Glu1618Ter)
c.4972G>T (p.Glu1658Ter)
c.4900G>T (p.Glu1634Ter)
c.1666G>T (p.Glu556Ter)
c.1528G>T (p.Glu510Ter)
c.4090G>T (p.Glu1364Ter)
c.4855G>T (p.Glu1619Ter)
c.5044G>T (p.Glu1682Ter)
c.4837G>T (p.Glu1613Ter)
c.1540G>T (p.Glu514Ter)
c.1585G>T (p.Glu529Ter)
c.5041G>T (p.Glu1681Ter)
c.1365G>T
c.1552G>T (p.Glu518Ter)
c.*4761G>T (n.*4761G>T)
n.131G>T
c.1291G>T (p.Glu431Ter)
c.5-6985G>T (n.5-6985G>T)
c.451G>T (p.Glu151Ter)
c.-98-20746G>T (n.-98-20746G>T)
n.5114G>T
n.5155G>T
 ClinVar dbSNP
17g.43070936C=CA2260772742BRCA1c.4975G= (p.Glu1659=)
c.4978G= (p.Glu1660=)
c.4852G= (p.Glu1618=)
c.4972G= (p.Glu1658=)
c.4900G= (p.Glu1634=)
c.1666G= (p.Glu556=)
c.1528G= (p.Glu510=)
c.4090G= (p.Glu1364=)
c.4855G= (p.Glu1619=)
c.5044G= (p.Glu1682=)
c.4837G= (p.Glu1613=)
c.1540G= (p.Glu514=)
c.1585G= (p.Glu529=)
c.5041G= (p.Glu1681=)
c.1365G=
c.1552G= (p.Glu518=)
c.*4761G= (n.*4761G=)
n.131G=
c.1291G= (p.Glu431=)
c.5-6985G= (n.5-6985G=)
c.451G= (p.Glu151=)
c.-98-20746G= (n.-98-20746G=)
n.5114G=
n.5155G=
17g.43070936C>GCA10591571BRCA1c.4975G>C (p.Glu1659Gln)
c.4978G>C (p.Glu1660Gln)
c.4852G>C (p.Glu1618Gln)
c.4972G>C (p.Glu1658Gln)
c.4900G>C (p.Glu1634Gln)
c.1666G>C (p.Glu556Gln)
c.1528G>C (p.Glu510Gln)
c.4090G>C (p.Glu1364Gln)
c.4855G>C (p.Glu1619Gln)
c.5044G>C (p.Glu1682Gln)
c.4837G>C (p.Glu1613Gln)
c.1540G>C (p.Glu514Gln)
c.1585G>C (p.Glu529Gln)
c.5041G>C (p.Glu1681Gln)
c.1365G>C
c.1552G>C (p.Glu518Gln)
c.*4761G>C (n.*4761G>C)
n.131G>C
c.1291G>C (p.Glu431Gln)
c.5-6985G>C (n.5-6985G>C)
c.451G>C (p.Glu151Gln)
c.-98-20746G>C (n.-98-20746G>C)
n.5114G>C
n.5155G>C
 ClinVar dbSNP
17g.43070936C>TCA10591572BRCA1c.4975G>A (p.Glu1659Lys)
c.4978G>A (p.Glu1660Lys)
c.4852G>A (p.Glu1618Lys)
c.4972G>A (p.Glu1658Lys)
c.4900G>A (p.Glu1634Lys)
c.1666G>A (p.Glu556Lys)
c.1528G>A (p.Glu510Lys)
c.4090G>A (p.Glu1364Lys)
c.4855G>A (p.Glu1619Lys)
c.5044G>A (p.Glu1682Lys)
c.4837G>A (p.Glu1613Lys)
c.1540G>A (p.Glu514Lys)
c.1585G>A (p.Glu529Lys)
c.5041G>A (p.Glu1681Lys)
c.1365G>A
c.1552G>A (p.Glu518Lys)
c.*4761G>A (n.*4761G>A)
n.131G>A
c.1291G>A (p.Glu431Lys)
c.5-6985G>A (n.5-6985G>A)
c.451G>A (p.Glu151Lys)
c.-98-20746G>A (n.-98-20746G>A)
n.5114G>A
n.5155G>A
 ClinVar dbSNP
17g.43070937T>ACA500231525BRCA1c.4974A>T (p.Pro1658=)
c.4977A>T (p.Pro1659=)
c.4851A>T (p.Pro1617=)
c.4971A>T (p.Pro1657=)
c.4899A>T (p.Pro1633=)
c.1665A>T (p.Pro555=)
c.1527A>T (p.Pro509=)
c.4089A>T (p.Pro1363=)
c.4854A>T (p.Pro1618=)
c.5043A>T (p.Pro1681=)
c.4836A>T (p.Pro1612=)
c.1539A>T (p.Pro513=)
c.1584A>T (p.Pro528=)
c.5040A>T (p.Pro1680=)
c.1364A>T
c.1551A>T (p.Pro517=)
c.*4760A>T (n.*4760A>T)
n.130A>T
c.1290A>T (p.Pro430=)
c.5-6986A>T (n.5-6986A>T)
c.450A>T (p.Pro150=)
c.-98-20747A>T (n.-98-20747A>T)
n.5113A>T
n.5154A>T
 ClinVar dbSNP
17g.43070937T>CCA500231526BRCA1c.4974A>G (p.Pro1658=)
c.4977A>G (p.Pro1659=)
c.4851A>G (p.Pro1617=)
c.4971A>G (p.Pro1657=)
c.4899A>G (p.Pro1633=)
c.1665A>G (p.Pro555=)
c.1527A>G (p.Pro509=)
c.4089A>G (p.Pro1363=)
c.4854A>G (p.Pro1618=)
c.5043A>G (p.Pro1681=)
c.4836A>G (p.Pro1612=)
c.1539A>G (p.Pro513=)
c.1584A>G (p.Pro528=)
c.5040A>G (p.Pro1680=)
c.1364A>G
c.1551A>G (p.Pro517=)
c.*4760A>G (n.*4760A>G)
n.130A>G
c.1290A>G (p.Pro430=)
c.5-6986A>G (n.5-6986A>G)
c.450A>G (p.Pro150=)
c.-98-20747A>G (n.-98-20747A>G)
n.5113A>G
n.5154A>G
 ClinVar dbSNP gnomAD v4
17g.43070937T>GCA500231527BRCA1c.4974A>C (p.Pro1658=)
c.4977A>C (p.Pro1659=)
c.4851A>C (p.Pro1617=)
c.4971A>C (p.Pro1657=)
c.4899A>C (p.Pro1633=)
c.1665A>C (p.Pro555=)
c.1527A>C (p.Pro509=)
c.4089A>C (p.Pro1363=)
c.4854A>C (p.Pro1618=)
c.5043A>C (p.Pro1681=)
c.4836A>C (p.Pro1612=)
c.1539A>C (p.Pro513=)
c.1584A>C (p.Pro528=)
c.5040A>C (p.Pro1680=)
c.1364A>C
c.1551A>C (p.Pro517=)
c.*4760A>C (n.*4760A>C)
n.130A>C
c.1290A>C (p.Pro430=)
c.5-6986A>C (n.5-6986A>C)
c.450A>C (p.Pro150=)
c.-98-20747A>C (n.-98-20747A>C)
n.5113A>C
n.5154A>C
 ClinVar dbSNP
17g.43070937T=CA2260772744BRCA1c.4974A= (p.Pro1658=)
c.4977A= (p.Pro1659=)
c.4851A= (p.Pro1617=)
c.4971A= (p.Pro1657=)
c.4899A= (p.Pro1633=)
c.1665A= (p.Pro555=)
c.1527A= (p.Pro509=)
c.4089A= (p.Pro1363=)
c.4854A= (p.Pro1618=)
c.5043A= (p.Pro1681=)
c.4836A= (p.Pro1612=)
c.1539A= (p.Pro513=)
c.1584A= (p.Pro528=)
c.5040A= (p.Pro1680=)
c.1364A=
c.1551A= (p.Pro517=)
c.*4760A= (n.*4760A=)
n.130A=
c.1290A= (p.Pro430=)
c.5-6986A= (n.5-6986A=)
c.450A= (p.Pro150=)
c.-98-20747A= (n.-98-20747A=)
n.5113A=
n.5154A=
17g.43070937_43070938delinsTGCA2260772743BRCA1c.4973_4974delinsCA (p.Pro1658=)
c.4976_4977delinsCA (p.Pro1659=)
c.4850_4851delinsCA (p.Pro1617=)
c.4970_4971delinsCA (p.Pro1657=)
c.4898_4899delinsCA (p.Pro1633=)
c.1664_1665delinsCA (p.Pro555=)
c.1526_1527delinsCA (p.Pro509=)
c.4088_4089delinsCA (p.Pro1363=)
c.4853_4854delinsCA (p.Pro1618=)
c.5042_5043delinsCA (p.Pro1681=)
c.4835_4836delinsCA (p.Pro1612=)
c.1538_1539delinsCA (p.Pro513=)
c.1583_1584delinsCA (p.Pro528=)
c.5039_5040delinsCA (p.Pro1680=)
c.1363_1364delinsCA
c.1550_1551delinsCA (p.Pro517=)
c.*4759_*4760delinsCA (n.*4759_*4760delinsCA)
n.129_130delinsCA
c.1289_1290delinsCA (p.Pro430=)
c.5-6987_5-6986delinsCA (n.5-6987_5-6986delinsCA)
c.449_450delinsCA (p.Pro150=)
c.-98-20748_-98-20747delinsCA (n.-98-20748_-98-20747delinsCA)
n.5112_5113delinsCA
n.5153_5154delinsCA
17g.43070938G>ACA10591573BRCA1c.4973C>T (p.Pro1658Leu)
c.4976C>T (p.Pro1659Leu)
c.4850C>T (p.Pro1617Leu)
c.4970C>T (p.Pro1657Leu)
c.4898C>T (p.Pro1633Leu)
c.1664C>T (p.Pro555Leu)
c.1526C>T (p.Pro509Leu)
c.4088C>T (p.Pro1363Leu)
c.4853C>T (p.Pro1618Leu)
c.5042C>T (p.Pro1681Leu)
c.4835C>T (p.Pro1612Leu)
c.1538C>T (p.Pro513Leu)
c.1583C>T (p.Pro528Leu)
c.5039C>T (p.Pro1680Leu)
c.1363C>T
c.1550C>T (p.Pro517Leu)
c.*4759C>T (n.*4759C>T)
n.129C>T
c.1289C>T (p.Pro430Leu)
c.5-6987C>T (n.5-6987C>T)
c.449C>T (p.Pro150Leu)
c.-98-20748C>T (n.-98-20748C>T)
n.5112C>T
n.5153C>T
 ClinVar dbSNP
17g.43070938G>CCA10591574BRCA1c.4973C>G (p.Pro1658Arg)
c.4976C>G (p.Pro1659Arg)
c.4850C>G (p.Pro1617Arg)
c.4970C>G (p.Pro1657Arg)
c.4898C>G (p.Pro1633Arg)
c.1664C>G (p.Pro555Arg)
c.1526C>G (p.Pro509Arg)
c.4088C>G (p.Pro1363Arg)
c.4853C>G (p.Pro1618Arg)
c.5042C>G (p.Pro1681Arg)
c.4835C>G (p.Pro1612Arg)
c.1538C>G (p.Pro513Arg)
c.1583C>G (p.Pro528Arg)
c.5039C>G (p.Pro1680Arg)
c.1363C>G
c.1550C>G (p.Pro517Arg)
c.*4759C>G (n.*4759C>G)
n.129C>G
c.1289C>G (p.Pro430Arg)
c.5-6987C>G (n.5-6987C>G)
c.449C>G (p.Pro150Arg)
c.-98-20748C>G (n.-98-20748C>G)
n.5112C>G
n.5153C>G
 ClinVar dbSNP
17g.43070938G=CA2260772745BRCA1c.4973C= (p.Pro1658=)
c.4976C= (p.Pro1659=)
c.4850C= (p.Pro1617=)
c.4970C= (p.Pro1657=)
c.4898C= (p.Pro1633=)
c.1664C= (p.Pro555=)
c.1526C= (p.Pro509=)
c.4088C= (p.Pro1363=)
c.4853C= (p.Pro1618=)
c.5042C= (p.Pro1681=)
c.4835C= (p.Pro1612=)
c.1538C= (p.Pro513=)
c.1583C= (p.Pro528=)
c.5039C= (p.Pro1680=)
c.1363C=
c.1550C= (p.Pro517=)
c.*4759C= (n.*4759C=)
n.129C=
c.1289C= (p.Pro430=)
c.5-6987C= (n.5-6987C=)
c.449C= (p.Pro150=)
c.-98-20748C= (n.-98-20748C=)
n.5112C=
n.5153C=
17g.43070938G>TCA10591575BRCA1c.4973C>A (p.Pro1658Gln)
c.4976C>A (p.Pro1659Gln)
c.4850C>A (p.Pro1617Gln)
c.4970C>A (p.Pro1657Gln)
c.4898C>A (p.Pro1633Gln)
c.1664C>A (p.Pro555Gln)
c.1526C>A (p.Pro509Gln)
c.4088C>A (p.Pro1363Gln)
c.4853C>A (p.Pro1618Gln)
c.5042C>A (p.Pro1681Gln)
c.4835C>A (p.Pro1612Gln)
c.1538C>A (p.Pro513Gln)
c.1583C>A (p.Pro528Gln)
c.5039C>A (p.Pro1680Gln)
c.1363C>A
c.1550C>A (p.Pro517Gln)
c.*4759C>A (n.*4759C>A)
n.129C>A
c.1289C>A (p.Pro430Gln)
c.5-6987C>A (n.5-6987C>A)
c.449C>A (p.Pro150Gln)
c.-98-20748C>A (n.-98-20748C>A)
n.5112C>A
n.5153C>A
 ClinVar dbSNP
17g.43070941delCA10585909BRCA1c.4973del (p.Pro1658GlnfsTer18)
c.4976del (p.Pro1659GlnfsTer18)
c.4850del (p.Pro1617GlnfsTer18)
c.4970del (p.Pro1657GlnfsTer18)
c.4898del (p.Pro1633GlnfsTer18)
c.1664del (p.Pro555GlnfsTer18)
c.1526del (p.Pro509GlnfsTer18)
c.4088del (p.Pro1363GlnfsTer18)
c.4853del (p.Pro1618GlnfsTer18)
c.5042del (p.Pro1681GlnfsTer18)
c.4835del (p.Pro1612GlnfsTer18)
c.1538del (p.Pro513GlnfsTer18)
c.1583del (p.Pro528GlnfsTer5)
c.5039del (p.Pro1680GlnfsTer18)
c.1363del
c.1550del (p.Pro517GlnfsTer18)
c.*4759del (n.*4759del)
n.129del
c.1289del (p.Pro430GlnfsTer18)
c.5-6987del (n.5-6987del)
c.449del (p.Pro150GlnfsTer18)
c.-98-20748del (n.-98-20748del)
n.5112del
n.5153del
 ClinVar dbSNP
17g.43070939G>ACA10591576BRCA1c.4972C>T (p.Pro1658Ser)
c.4975C>T (p.Pro1659Ser)
c.4849C>T (p.Pro1617Ser)
c.4969C>T (p.Pro1657Ser)
c.4897C>T (p.Pro1633Ser)
c.1663C>T (p.Pro555Ser)
c.1525C>T (p.Pro509Ser)
c.4087C>T (p.Pro1363Ser)
c.4852C>T (p.Pro1618Ser)
c.5041C>T (p.Pro1681Ser)
c.4834C>T (p.Pro1612Ser)
c.1537C>T (p.Pro513Ser)
c.1582C>T (p.Pro528Ser)
c.5038C>T (p.Pro1680Ser)
c.1362C>T
c.1549C>T (p.Pro517Ser)
c.*4758C>T (n.*4758C>T)
n.128C>T
c.1288C>T (p.Pro430Ser)
c.5-6988C>T (n.5-6988C>T)
c.448C>T (p.Pro150Ser)
c.-98-20749C>T (n.-98-20749C>T)
n.5111C>T
n.5152C>T
 ClinVar dbSNP
17g.43070939G>CCA10591577BRCA1c.4972C>G (p.Pro1658Ala)
c.4975C>G (p.Pro1659Ala)
c.4849C>G (p.Pro1617Ala)
c.4969C>G (p.Pro1657Ala)
c.4897C>G (p.Pro1633Ala)
c.1663C>G (p.Pro555Ala)
c.1525C>G (p.Pro509Ala)
c.4087C>G (p.Pro1363Ala)
c.4852C>G (p.Pro1618Ala)
c.5041C>G (p.Pro1681Ala)
c.4834C>G (p.Pro1612Ala)
c.1537C>G (p.Pro513Ala)
c.1582C>G (p.Pro528Ala)
c.5038C>G (p.Pro1680Ala)
c.1362C>G
c.1549C>G (p.Pro517Ala)
c.*4758C>G (n.*4758C>G)
n.128C>G
c.1288C>G (p.Pro430Ala)
c.5-6988C>G (n.5-6988C>G)
c.448C>G (p.Pro150Ala)
c.-98-20749C>G (n.-98-20749C>G)
n.5111C>G
n.5152C>G
 ClinVar dbSNP gnomAD v4
17g.43070939G=CA2260772746BRCA1c.4972C= (p.Pro1658=)
c.4975C= (p.Pro1659=)
c.4849C= (p.Pro1617=)
c.4969C= (p.Pro1657=)
c.4897C= (p.Pro1633=)
c.1663C= (p.Pro555=)
c.1525C= (p.Pro509=)
c.4087C= (p.Pro1363=)
c.4852C= (p.Pro1618=)
c.5041C= (p.Pro1681=)
c.4834C= (p.Pro1612=)
c.1537C= (p.Pro513=)
c.1582C= (p.Pro528=)
c.5038C= (p.Pro1680=)
c.1362C=
c.1549C= (p.Pro517=)
c.*4758C= (n.*4758C=)
n.128C=
c.1288C= (p.Pro430=)
c.5-6988C= (n.5-6988C=)
c.448C= (p.Pro150=)
c.-98-20749C= (n.-98-20749C=)
n.5111C=
n.5152C=

Number of alleles fetched