Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.43063955_43071241del	CA10575957	BRCA1	c.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
17	g.43066661_43072815del	CA913190336	BRCA1	c.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
17	g.43067611_43071241del	CA2581463406	BRCA1	c.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
17	g.43070037_43072667del	CA10602585	BRCA1	c.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
17	g.43070145_43072775del	CA2697559917	BRCA1	c.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
17	g.43070208_43078359dup	CA16043350	BRCA1	c.4358-1732_4983+736dup c.4358-1729_4986+736dup c.4232-1729_4860+736dup c.4352-1729_4980+736dup c.4280-1729_4908+736dup c.1046-1729_1674+736dup c.908-1729_1536+736dup c.3470-1729_4098+736dup c.4235-1729_4863+736dup c.4423+991_5052+736dup c.4217-1729_4845+736dup c.923-1732_1548+736dup c.4423+991_5049+736dup c.744+991_1373+736dup c.932-1729_1560+736dup c.4141-1729_4769+736dup c.1049-1732_1674+736dup c.671-1729_1299+736dup c.5-14392_5-6241dup (n.5-14392_5-6241dup) c.-43-3822_459+736dup c.-98-28153_-98-20002dup (n.-98-28153_-98-20002dup) n.4494-1729_5122+736dup n.4535-1729_5163+736dup
17	g.43070192_43078360dup	CA2580612611	BRCA1	c.4358-1749_4983+736dup c.4358-1746_4986+736dup c.4232-1746_4860+736dup c.4352-1746_4980+736dup c.4280-1746_4908+736dup c.1046-1746_1674+736dup c.908-1746_1536+736dup c.3470-1746_4098+736dup c.4235-1746_4863+736dup c.4423+974_5052+736dup c.4217-1746_4845+736dup c.923-1749_1548+736dup c.4423+974_5049+736dup c.744+974_1373+736dup c.932-1746_1560+736dup c.4141-1746_4769+736dup c.1049-1749_1674+736dup c.671-1746_1299+736dup c.5-14409_5-6241dup (n.5-14409_5-6241dup) c.-43-3839_459+736dup c.-98-28170_-98-20002dup (n.-98-28170_-98-20002dup) n.4494-1746_5122+736dup n.4535-1746_5163+736dup
17	g.43070972_43071054delinsTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCA	CA2260772786	BRCA1	c.4857_4939delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1619=) c.4860_4942delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1620=) c.4734_4816delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1578=) c.4854_4936delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1618=) c.4782_4864delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1594=) c.1548_1630delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr516=) c.1410_1492delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr470=) c.3972_4054delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1324=) c.4737_4819delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1579=) c.4926_5008delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1642=) c.4719_4801delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1573=) c.1422_1504delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr474=) c.1467_1549delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr489=) c.4923_5005delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr1641=) c.1247_1329delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA c.1434_1516delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr478=) c.4643_4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.4643_4725delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA) n.13_95delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA c.1173_1255delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr391=) c.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.5-7103_5-7021delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA) c.333_415delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (p.Thr111=) c.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA (n.-98-20864_-98-20782delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA) n.4996_5078delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA n.5037_5119delinsTGATACTGCTGGGTATAATGCAATGGAAGAAAGTGTGAGCAGGGAGAAGCCAGAATTGACAGCTTCAACAGAAAGGGTCAACA
17	g.43070975_43071056del	CA10589635	BRCA1	c.4857_4938del (p.Asp1620LysfsTer10) c.4860_4941del (p.Asp1621LysfsTer10) c.4734_4815del (p.Asp1579LysfsTer10) c.4854_4935del (p.Asp1619LysfsTer10) c.4782_4863del (p.Asp1595LysfsTer10) c.1548_1629del (p.Asp517LysfsTer10) c.1410_1491del (p.Asp471LysfsTer10) c.3972_4053del (p.Asp1325LysfsTer10) c.4737_4818del (p.Asp1580LysfsTer10) c.4926_5007del (p.Asp1643LysfsTer10) c.4719_4800del (p.Asp1574LysfsTer10) c.1422_1503del (p.Asp475LysfsTer10) c.1467_1548del (p.Asp490LysfsTer10) c.4923_5004del (p.Asp1642LysfsTer10) c.1247_1328del c.1434_1515del (p.Asp479LysfsTer10) c.4643_4724del (n.4643_4724del) n.13_94del c.1173_1254del (p.Asp392LysfsTer10) c.5-7103_5-7022del (n.5-7103_5-7022del) c.333_414del (p.Asp112LysfsTer10) c.-98-20864_-98-20783del (n.-98-20864_-98-20783del) n.4996_5077del n.5037_5118del	ClinVar dbSNP
17	g.43071026_43071033del	CA2582342171	BRCA1	c.4880_4887del (p.Met1627LysfsTer?) c.4883_4890del (p.Met1628LysfsTer?) c.4757_4764del (p.Met1586LysfsTer?) c.4877_4884del (p.Met1626LysfsTer?) c.4805_4812del (p.Met1602LysfsTer?) c.1571_1578del (p.Met524LysfsTer?) c.1433_1440del (p.Met478LysfsTer?) c.3995_4002del (p.Met1332LysfsTer?) c.4760_4767del (p.Met1587LysfsTer?) c.4949_4956del (p.Met1650LysfsTer?) c.4742_4749del (p.Met1581LysfsTer?) c.1445_1452del (p.Met482LysfsTer?) c.1490_1497del (p.Met497LysfsTer?) c.4946_4953del (p.Met1649LysfsTer?) c.1270_1277del c.1457_1464del (p.Met486LysfsTer?) c.4666_4673del (n.4666_4673del) n.36_43del c.1196_1203del (p.Met399LysfsTer?) c.5-7080_5-7073del (n.5-7080_5-7073del) c.356_363del (p.Met119LysfsTer?) c.-98-20841_-98-20834del (n.-98-20841_-98-20834del) n.5019_5026del n.5060_5067del	ClinVar
17	g.43071028_43071041delinsTCCATTGCATTATA	CA2260772853	BRCA1	c.4870_4883delinsTATAATGCAATGGA (p.Tyr1624=) c.4873_4886delinsTATAATGCAATGGA (p.Tyr1625=) c.4747_4760delinsTATAATGCAATGGA (p.Tyr1583=) c.4867_4880delinsTATAATGCAATGGA (p.Tyr1623=) c.4795_4808delinsTATAATGCAATGGA (p.Tyr1599=) c.1561_1574delinsTATAATGCAATGGA (p.Tyr521=) c.1423_1436delinsTATAATGCAATGGA (p.Tyr475=) c.3985_3998delinsTATAATGCAATGGA (p.Tyr1329=) c.4750_4763delinsTATAATGCAATGGA (p.Tyr1584=) c.4939_4952delinsTATAATGCAATGGA (p.Tyr1647=) c.4732_4745delinsTATAATGCAATGGA (p.Tyr1578=) c.1435_1448delinsTATAATGCAATGGA (p.Tyr479=) c.1480_1493delinsTATAATGCAATGGA (p.Tyr494=) c.4936_4949delinsTATAATGCAATGGA (p.Tyr1646=) c.1260_1273delinsTATAATGCAATGGA c.1447_1460delinsTATAATGCAATGGA (p.Tyr483=) c.4656_4669delinsTATAATGCAATGGA (n.4656_4669delinsTATAATGCAATGGA) n.26_39delinsTATAATGCAATGGA c.1186_1199delinsTATAATGCAATGGA (p.Tyr396=) c.5-7090_5-7077delinsTATAATGCAATGGA (n.5-7090_5-7077delinsTATAATGCAATGGA) c.346_359delinsTATAATGCAATGGA (p.Tyr116=) c.-98-20851_-98-20838delinsTATAATGCAATGGA (n.-98-20851_-98-20838delinsTATAATGCAATGGA) n.5009_5022delinsTATAATGCAATGGA n.5050_5063delinsTATAATGCAATGGA
17	g.43071031_43071043del	CA003059	BRCA1	c.4870_4882del (p.Tyr1624LysfsTer4) c.4873_4885del (p.Tyr1625LysfsTer4) c.4747_4759del (p.Tyr1583LysfsTer4) c.4867_4879del (p.Tyr1623LysfsTer4) c.4795_4807del (p.Tyr1599LysfsTer4) c.1561_1573del (p.Tyr521LysfsTer4) c.1423_1435del (p.Tyr475LysfsTer4) c.3985_3997del (p.Tyr1329LysfsTer4) c.4750_4762del (p.Tyr1584LysfsTer4) c.4939_4951del (p.Tyr1647LysfsTer4) c.4732_4744del (p.Tyr1578LysfsTer4) c.1435_1447del (p.Tyr479LysfsTer4) c.1480_1492del (p.Tyr494LysfsTer4) c.4936_4948del (p.Tyr1646LysfsTer4) c.1260_1272del c.1447_1459del (p.Tyr483LysfsTer4) c.4656_4668del (n.4656_4668del) n.26_38del c.1186_1198del (p.Tyr396LysfsTer4) c.5-7090_5-7078del (n.5-7090_5-7078del) c.346_358del (p.Tyr116LysfsTer4) c.-98-20851_-98-20839del (n.-98-20851_-98-20839del) n.5009_5021del n.5050_5062del	ClinVar dbSNP
17	g.43071031del	CA2697559920	BRCA1	c.4880del (p.Met1627ArgfsTer5) c.4883del (p.Met1628ArgfsTer5) c.4757del (p.Met1586ArgfsTer5) c.4877del (p.Met1626ArgfsTer5) c.4805del (p.Met1602ArgfsTer5) c.1571del (p.Met524ArgfsTer5) c.1433del (p.Met478ArgfsTer5) c.3995del (p.Met1332ArgfsTer5) c.4760del (p.Met1587ArgfsTer5) c.4949del (p.Met1650ArgfsTer5) c.4742del (p.Met1581ArgfsTer5) c.1445del (p.Met482ArgfsTer5) c.1490del (p.Met497ArgfsTer5) c.4946del (p.Met1649ArgfsTer5) c.1270del c.1457del (p.Met486ArgfsTer5) c.4666del (n.4666del) n.36del c.1196del (p.Met399ArgfsTer5) c.5-7080del (n.5-7080del) c.356del (p.Met119ArgfsTer5) c.-98-20841del (n.-98-20841del) n.5019del n.5060del	ClinVar
17	g.43071031A=	CA2260772855	BRCA1	c.4880T= (p.Met1627=) c.4883T= (p.Met1628=) c.4757T= (p.Met1586=) c.4877T= (p.Met1626=) c.4805T= (p.Met1602=) c.1571T= (p.Met524=) c.1433T= (p.Met478=) c.3995T= (p.Met1332=) c.4760T= (p.Met1587=) c.4949T= (p.Met1650=) c.4742T= (p.Met1581=) c.1445T= (p.Met482=) c.1490T= (p.Met497=) c.4946T= (p.Met1649=) c.1270T= c.1457T= (p.Met486=) c.4666T= (n.4666T=) n.36T= c.1196T= (p.Met399=) c.5-7080T= (n.5-7080T=) c.356T= (p.Met119=) c.-98-20841T= (n.-98-20841T=) n.5019T= n.5060T=
17	g.43071031A>C	CA10591762	BRCA1	c.4880T>G (p.Met1627Arg) c.4883T>G (p.Met1628Arg) c.4757T>G (p.Met1586Arg) c.4877T>G (p.Met1626Arg) c.4805T>G (p.Met1602Arg) c.1571T>G (p.Met524Arg) c.1433T>G (p.Met478Arg) c.3995T>G (p.Met1332Arg) c.4760T>G (p.Met1587Arg) c.4949T>G (p.Met1650Arg) c.4742T>G (p.Met1581Arg) c.1445T>G (p.Met482Arg) c.1490T>G (p.Met497Arg) c.4946T>G (p.Met1649Arg) c.1270T>G c.1457T>G (p.Met486Arg) c.4666T>G (n.4666T>G) n.36T>G c.1196T>G (p.Met399Arg) c.5-7080T>G (n.5-7080T>G) c.356T>G (p.Met119Arg) c.-98-20841T>G (n.-98-20841T>G) n.5019T>G n.5060T>G	dbSNP
17	g.43071031A>G	CA003062	BRCA1	c.4880T>C (p.Met1627Thr) c.4883T>C (p.Met1628Thr) c.4757T>C (p.Met1586Thr) c.4877T>C (p.Met1626Thr) c.4805T>C (p.Met1602Thr) c.1571T>C (p.Met524Thr) c.1433T>C (p.Met478Thr) c.3995T>C (p.Met1332Thr) c.4760T>C (p.Met1587Thr) c.4949T>C (p.Met1650Thr) c.4742T>C (p.Met1581Thr) c.1445T>C (p.Met482Thr) c.1490T>C (p.Met497Thr) c.4946T>C (p.Met1649Thr) c.1270T>C c.1457T>C (p.Met486Thr) c.4666T>C (n.4666T>C) n.36T>C c.1196T>C (p.Met399Thr) c.5-7080T>C (n.5-7080T>C) c.356T>C (p.Met119Thr) c.-98-20841T>C (n.-98-20841T>C) n.5019T>C n.5060T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071031A>T	CA10591763	BRCA1	c.4880T>A (p.Met1627Lys) c.4883T>A (p.Met1628Lys) c.4757T>A (p.Met1586Lys) c.4877T>A (p.Met1626Lys) c.4805T>A (p.Met1602Lys) c.1571T>A (p.Met524Lys) c.1433T>A (p.Met478Lys) c.3995T>A (p.Met1332Lys) c.4760T>A (p.Met1587Lys) c.4949T>A (p.Met1650Lys) c.4742T>A (p.Met1581Lys) c.1445T>A (p.Met482Lys) c.1490T>A (p.Met497Lys) c.4946T>A (p.Met1649Lys) c.1270T>A c.1457T>A (p.Met486Lys) c.4666T>A (n.4666T>A) n.36T>A c.1196T>A (p.Met399Lys) c.5-7080T>A (n.5-7080T>A) c.356T>A (p.Met119Lys) c.-98-20841T>A (n.-98-20841T>A) n.5019T>A n.5060T>A	ClinVar dbSNP
17	g.43071032T>A	CA10591764	BRCA1	c.4879A>T (p.Met1627Leu) c.4882A>T (p.Met1628Leu) c.4756A>T (p.Met1586Leu) c.4876A>T (p.Met1626Leu) c.4804A>T (p.Met1602Leu) c.1570A>T (p.Met524Leu) c.1432A>T (p.Met478Leu) c.3994A>T (p.Met1332Leu) c.4759A>T (p.Met1587Leu) c.4948A>T (p.Met1650Leu) c.4741A>T (p.Met1581Leu) c.1444A>T (p.Met482Leu) c.1489A>T (p.Met497Leu) c.4945A>T (p.Met1649Leu) c.1269A>T c.1456A>T (p.Met486Leu) c.4665A>T (n.4665A>T) n.35A>T c.1195A>T (p.Met399Leu) c.5-7081A>T (n.5-7081A>T) c.355A>T (p.Met119Leu) c.-98-20842A>T (n.-98-20842A>T) n.5018A>T n.5059A>T	dbSNP
17	g.43071032T>C	CA003061	BRCA1	c.4879A>G (p.Met1627Val) c.4882A>G (p.Met1628Val) c.4756A>G (p.Met1586Val) c.4876A>G (p.Met1626Val) c.4804A>G (p.Met1602Val) c.1570A>G (p.Met524Val) c.1432A>G (p.Met478Val) c.3994A>G (p.Met1332Val) c.4759A>G (p.Met1587Val) c.4948A>G (p.Met1650Val) c.4741A>G (p.Met1581Val) c.1444A>G (p.Met482Val) c.1489A>G (p.Met497Val) c.4945A>G (p.Met1649Val) c.1269A>G c.1456A>G (p.Met486Val) c.4665A>G (n.4665A>G) n.35A>G c.1195A>G (p.Met399Val) c.5-7081A>G (n.5-7081A>G) c.355A>G (p.Met119Val) c.-98-20842A>G (n.-98-20842A>G) n.5018A>G n.5059A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071032T>G	CA10591765	BRCA1	c.4879A>C (p.Met1627Leu) c.4882A>C (p.Met1628Leu) c.4756A>C (p.Met1586Leu) c.4876A>C (p.Met1626Leu) c.4804A>C (p.Met1602Leu) c.1570A>C (p.Met524Leu) c.1432A>C (p.Met478Leu) c.3994A>C (p.Met1332Leu) c.4759A>C (p.Met1587Leu) c.4948A>C (p.Met1650Leu) c.4741A>C (p.Met1581Leu) c.1444A>C (p.Met482Leu) c.1489A>C (p.Met497Leu) c.4945A>C (p.Met1649Leu) c.1269A>C c.1456A>C (p.Met486Leu) c.4665A>C (n.4665A>C) n.35A>C c.1195A>C (p.Met399Leu) c.5-7081A>C (n.5-7081A>C) c.355A>C (p.Met119Leu) c.-98-20842A>C (n.-98-20842A>C) n.5018A>C n.5059A>C	dbSNP
17	g.43071032T=	CA2260772856	BRCA1	c.4879A= (p.Met1627=) c.4882A= (p.Met1628=) c.4756A= (p.Met1586=) c.4876A= (p.Met1626=) c.4804A= (p.Met1602=) c.1570A= (p.Met524=) c.1432A= (p.Met478=) c.3994A= (p.Met1332=) c.4759A= (p.Met1587=) c.4948A= (p.Met1650=) c.4741A= (p.Met1581=) c.1444A= (p.Met482=) c.1489A= (p.Met497=) c.4945A= (p.Met1649=) c.1269A= c.1456A= (p.Met486=) c.4665A= (n.4665A=) n.35A= c.1195A= (p.Met399=) c.5-7081A= (n.5-7081A=) c.355A= (p.Met119=) c.-98-20842A= (n.-98-20842A=) n.5018A= n.5059A=
17	g.43071033T>A	CA500231753	BRCA1	c.4878A>T (p.Ala1626=) c.4881A>T (p.Ala1627=) c.4755A>T (p.Ala1585=) c.4875A>T (p.Ala1625=) c.4803A>T (p.Ala1601=) c.1569A>T (p.Ala523=) c.1431A>T (p.Ala477=) c.3993A>T (p.Ala1331=) c.4758A>T (p.Ala1586=) c.4947A>T (p.Ala1649=) c.4740A>T (p.Ala1580=) c.1443A>T (p.Ala481=) c.1488A>T (p.Ala496=) c.4944A>T (p.Ala1648=) c.1268A>T c.1455A>T (p.Ala485=) c.4664A>T (n.4664A>T) n.34A>T c.1194A>T (p.Ala398=) c.5-7082A>T (n.5-7082A>T) c.354A>T (p.Ala118=) c.-98-20843A>T (n.-98-20843A>T) n.5017A>T n.5058A>T	dbSNP
17	g.43071033T>C	CA500231751	BRCA1	c.4878A>G (p.Ala1626=) c.4881A>G (p.Ala1627=) c.4755A>G (p.Ala1585=) c.4875A>G (p.Ala1625=) c.4803A>G (p.Ala1601=) c.1569A>G (p.Ala523=) c.1431A>G (p.Ala477=) c.3993A>G (p.Ala1331=) c.4758A>G (p.Ala1586=) c.4947A>G (p.Ala1649=) c.4740A>G (p.Ala1580=) c.1443A>G (p.Ala481=) c.1488A>G (p.Ala496=) c.4944A>G (p.Ala1648=) c.1268A>G c.1455A>G (p.Ala485=) c.4664A>G (n.4664A>G) n.34A>G c.1194A>G (p.Ala398=) c.5-7082A>G (n.5-7082A>G) c.354A>G (p.Ala118=) c.-98-20843A>G (n.-98-20843A>G) n.5017A>G n.5058A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.43071033T>G	CA500231752	BRCA1	c.4878A>C (p.Ala1626=) c.4881A>C (p.Ala1627=) c.4755A>C (p.Ala1585=) c.4875A>C (p.Ala1625=) c.4803A>C (p.Ala1601=) c.1569A>C (p.Ala523=) c.1431A>C (p.Ala477=) c.3993A>C (p.Ala1331=) c.4758A>C (p.Ala1586=) c.4947A>C (p.Ala1649=) c.4740A>C (p.Ala1580=) c.1443A>C (p.Ala481=) c.1488A>C (p.Ala496=) c.4944A>C (p.Ala1648=) c.1268A>C c.1455A>C (p.Ala485=) c.4664A>C (n.4664A>C) n.34A>C c.1194A>C (p.Ala398=) c.5-7082A>C (n.5-7082A>C) c.354A>C (p.Ala118=) c.-98-20843A>C (n.-98-20843A>C) n.5017A>C n.5058A>C
17	g.43071033T=	CA2260772857	BRCA1	c.4878A= (p.Ala1626=) c.4881A= (p.Ala1627=) c.4755A= (p.Ala1585=) c.4875A= (p.Ala1625=) c.4803A= (p.Ala1601=) c.1569A= (p.Ala523=) c.1431A= (p.Ala477=) c.3993A= (p.Ala1331=) c.4758A= (p.Ala1586=) c.4947A= (p.Ala1649=) c.4740A= (p.Ala1580=) c.1443A= (p.Ala481=) c.1488A= (p.Ala496=) c.4944A= (p.Ala1648=) c.1268A= c.1455A= (p.Ala485=) c.4664A= (n.4664A=) n.34A= c.1194A= (p.Ala398=) c.5-7082A= (n.5-7082A=) c.354A= (p.Ala118=) c.-98-20843A= (n.-98-20843A=) n.5017A= n.5058A=
17	g.43071034G>A	CA053410	BRCA1	c.4877C>T (p.Ala1626Val) c.4880C>T (p.Ala1627Val) c.4754C>T (p.Ala1585Val) c.4874C>T (p.Ala1625Val) c.4802C>T (p.Ala1601Val) c.1568C>T (p.Ala523Val) c.1430C>T (p.Ala477Val) c.3992C>T (p.Ala1331Val) c.4757C>T (p.Ala1586Val) c.4946C>T (p.Ala1649Val) c.4739C>T (p.Ala1580Val) c.1442C>T (p.Ala481Val) c.1487C>T (p.Ala496Val) c.4943C>T (p.Ala1648Val) c.1267C>T c.1454C>T (p.Ala485Val) c.4663C>T (n.4663C>T) n.33C>T c.1193C>T (p.Ala398Val) c.5-7083C>T (n.5-7083C>T) c.353C>T (p.Ala118Val) c.-98-20844C>T (n.-98-20844C>T) n.5016C>T n.5057C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071034G>C	CA10591766	BRCA1	c.4877C>G (p.Ala1626Gly) c.4880C>G (p.Ala1627Gly) c.4754C>G (p.Ala1585Gly) c.4874C>G (p.Ala1625Gly) c.4802C>G (p.Ala1601Gly) c.1568C>G (p.Ala523Gly) c.1430C>G (p.Ala477Gly) c.3992C>G (p.Ala1331Gly) c.4757C>G (p.Ala1586Gly) c.4946C>G (p.Ala1649Gly) c.4739C>G (p.Ala1580Gly) c.1442C>G (p.Ala481Gly) c.1487C>G (p.Ala496Gly) c.4943C>G (p.Ala1648Gly) c.1267C>G c.1454C>G (p.Ala485Gly) c.4663C>G (n.4663C>G) n.33C>G c.1193C>G (p.Ala398Gly) c.5-7083C>G (n.5-7083C>G) c.353C>G (p.Ala118Gly) c.-98-20844C>G (n.-98-20844C>G) n.5016C>G n.5057C>G	ClinVar dbSNP
17	g.43071034G=	CA2260772858	BRCA1	c.4877C= (p.Ala1626=) c.4880C= (p.Ala1627=) c.4754C= (p.Ala1585=) c.4874C= (p.Ala1625=) c.4802C= (p.Ala1601=) c.1568C= (p.Ala523=) c.1430C= (p.Ala477=) c.3992C= (p.Ala1331=) c.4757C= (p.Ala1586=) c.4946C= (p.Ala1649=) c.4739C= (p.Ala1580=) c.1442C= (p.Ala481=) c.1487C= (p.Ala496=) c.4943C= (p.Ala1648=) c.1267C= c.1454C= (p.Ala485=) c.4663C= (n.4663C=) n.33C= c.1193C= (p.Ala398=) c.5-7083C= (n.5-7083C=) c.353C= (p.Ala118=) c.-98-20844C= (n.-98-20844C=) n.5016C= n.5057C=
17	g.43071034G>T	CA10591767	BRCA1	c.4877C>A (p.Ala1626Glu) c.4880C>A (p.Ala1627Glu) c.4754C>A (p.Ala1585Glu) c.4874C>A (p.Ala1625Glu) c.4802C>A (p.Ala1601Glu) c.1568C>A (p.Ala523Glu) c.1430C>A (p.Ala477Glu) c.3992C>A (p.Ala1331Glu) c.4757C>A (p.Ala1586Glu) c.4946C>A (p.Ala1649Glu) c.4739C>A (p.Ala1580Glu) c.1442C>A (p.Ala481Glu) c.1487C>A (p.Ala496Glu) c.4943C>A (p.Ala1648Glu) c.1267C>A c.1454C>A (p.Ala485Glu) c.4663C>A (n.4663C>A) n.33C>A c.1193C>A (p.Ala398Glu) c.5-7083C>A (n.5-7083C>A) c.353C>A (p.Ala118Glu) c.-98-20844C>A (n.-98-20844C>A) n.5016C>A n.5057C>A	dbSNP gnomAD v4
17	g.43071034_43071041del	CA2499224391	BRCA1	c.4870_4877del (p.Tyr1624AsnfsTer?) c.4873_4880del (p.Tyr1625AsnfsTer?) c.4747_4754del (p.Tyr1583AsnfsTer?) c.4867_4874del (p.Tyr1623AsnfsTer?) c.4795_4802del (p.Tyr1599AsnfsTer?) c.1561_1568del (p.Tyr521AsnfsTer?) c.1423_1430del (p.Tyr475AsnfsTer?) c.3985_3992del (p.Tyr1329AsnfsTer?) c.4750_4757del (p.Tyr1584AsnfsTer?) c.4939_4946del (p.Tyr1647AsnfsTer?) c.4732_4739del (p.Tyr1578AsnfsTer?) c.1435_1442del (p.Tyr479AsnfsTer?) c.1480_1487del (p.Tyr494AsnfsTer?) c.4936_4943del (p.Tyr1646AsnfsTer?) c.1260_1267del c.1447_1454del (p.Tyr483AsnfsTer?) c.4656_4663del (n.4656_4663del) n.26_33del c.1186_1193del (p.Tyr396AsnfsTer?) c.5-7090_5-7083del (n.5-7090_5-7083del) c.346_353del (p.Tyr116AsnfsTer?) c.-98-20851_-98-20844del (n.-98-20851_-98-20844del) n.5009_5016del n.5050_5057del
17	g.43071035C>A	CA10591768	BRCA1	c.4876G>T (p.Ala1626Ser) c.4879G>T (p.Ala1627Ser) c.4753G>T (p.Ala1585Ser) c.4873G>T (p.Ala1625Ser) c.4801G>T (p.Ala1601Ser) c.1567G>T (p.Ala523Ser) c.1429G>T (p.Ala477Ser) c.3991G>T (p.Ala1331Ser) c.4756G>T (p.Ala1586Ser) c.4945G>T (p.Ala1649Ser) c.4738G>T (p.Ala1580Ser) c.1441G>T (p.Ala481Ser) c.1486G>T (p.Ala496Ser) c.4942G>T (p.Ala1648Ser) c.1266G>T c.1453G>T (p.Ala485Ser) c.4662G>T (n.4662G>T) n.32G>T c.1192G>T (p.Ala398Ser) c.5-7084G>T (n.5-7084G>T) c.352G>T (p.Ala118Ser) c.-98-20845G>T (n.-98-20845G>T) n.5015G>T n.5056G>T	ClinVar dbSNP
17	g.43071035C=	CA2260772859	BRCA1	c.4876G= (p.Ala1626=) c.4879G= (p.Ala1627=) c.4753G= (p.Ala1585=) c.4873G= (p.Ala1625=) c.4801G= (p.Ala1601=) c.1567G= (p.Ala523=) c.1429G= (p.Ala477=) c.3991G= (p.Ala1331=) c.4756G= (p.Ala1586=) c.4945G= (p.Ala1649=) c.4738G= (p.Ala1580=) c.1441G= (p.Ala481=) c.1486G= (p.Ala496=) c.4942G= (p.Ala1648=) c.1266G= c.1453G= (p.Ala485=) c.4662G= (n.4662G=) n.32G= c.1192G= (p.Ala398=) c.5-7084G= (n.5-7084G=) c.352G= (p.Ala118=) c.-98-20845G= (n.-98-20845G=) n.5015G= n.5056G=
17	g.43071035C>G	CA10591769	BRCA1	c.4876G>C (p.Ala1626Pro) c.4879G>C (p.Ala1627Pro) c.4753G>C (p.Ala1585Pro) c.4873G>C (p.Ala1625Pro) c.4801G>C (p.Ala1601Pro) c.1567G>C (p.Ala523Pro) c.1429G>C (p.Ala477Pro) c.3991G>C (p.Ala1331Pro) c.4756G>C (p.Ala1586Pro) c.4945G>C (p.Ala1649Pro) c.4738G>C (p.Ala1580Pro) c.1441G>C (p.Ala481Pro) c.1486G>C (p.Ala496Pro) c.4942G>C (p.Ala1648Pro) c.1266G>C c.1453G>C (p.Ala485Pro) c.4662G>C (n.4662G>C) n.32G>C c.1192G>C (p.Ala398Pro) c.5-7084G>C (n.5-7084G>C) c.352G>C (p.Ala118Pro) c.-98-20845G>C (n.-98-20845G>C) n.5015G>C n.5056G>C	dbSNP
17	g.43071035C>T	CA053401	BRCA1	c.4876G>A (p.Ala1626Thr) c.4879G>A (p.Ala1627Thr) c.4753G>A (p.Ala1585Thr) c.4873G>A (p.Ala1625Thr) c.4801G>A (p.Ala1601Thr) c.1567G>A (p.Ala523Thr) c.1429G>A (p.Ala477Thr) c.3991G>A (p.Ala1331Thr) c.4756G>A (p.Ala1586Thr) c.4945G>A (p.Ala1649Thr) c.4738G>A (p.Ala1580Thr) c.1441G>A (p.Ala481Thr) c.1486G>A (p.Ala496Thr) c.4942G>A (p.Ala1648Thr) c.1266G>A c.1453G>A (p.Ala485Thr) c.4662G>A (n.4662G>A) n.32G>A c.1192G>A (p.Ala398Thr) c.5-7084G>A (n.5-7084G>A) c.352G>A (p.Ala118Thr) c.-98-20845G>A (n.-98-20845G>A) n.5015G>A n.5056G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071036del	CA2573154030	BRCA1	c.4875del (p.Asn1625LysfsTer7) c.4878del (p.Asn1626LysfsTer7) c.4752del (p.Asn1584LysfsTer7) c.4872del (p.Asn1624LysfsTer7) c.4800del (p.Asn1600LysfsTer7) c.1566del (p.Asn522LysfsTer7) c.1428del (p.Asn476LysfsTer7) c.3990del (p.Asn1330LysfsTer7) c.4755del (p.Asn1585LysfsTer7) c.4944del (p.Asn1648LysfsTer7) c.4737del (p.Asn1579LysfsTer7) c.1440del (p.Asn480LysfsTer7) c.1485del (p.Asn495LysfsTer7) c.4941del (p.Asn1647LysfsTer7) c.1265del c.1452del (p.Asn484LysfsTer7) c.4661del (n.4661del) n.31del c.1191del (p.Asn397LysfsTer7) c.5-7085del (n.5-7085del) c.351del (p.Asn117LysfsTer7) c.-98-20846del (n.-98-20846del) n.5014del n.5055del	ClinVar dbSNP
17	g.43071036A=	CA2260772861	BRCA1	c.4875T= (p.Asn1625=) c.4878T= (p.Asn1626=) c.4752T= (p.Asn1584=) c.4872T= (p.Asn1624=) c.4800T= (p.Asn1600=) c.1566T= (p.Asn522=) c.1428T= (p.Asn476=) c.3990T= (p.Asn1330=) c.4755T= (p.Asn1585=) c.4944T= (p.Asn1648=) c.4737T= (p.Asn1579=) c.1440T= (p.Asn480=) c.1485T= (p.Asn495=) c.4941T= (p.Asn1647=) c.1265T= c.1452T= (p.Asn484=) c.4661T= (n.4661T=) n.31T= c.1191T= (p.Asn397=) c.5-7085T= (n.5-7085T=) c.351T= (p.Asn117=) c.-98-20846T= (n.-98-20846T=) n.5014T= n.5055T=
17	g.43071036A>C	CA10591770	BRCA1	c.4875T>G (p.Asn1625Lys) c.4878T>G (p.Asn1626Lys) c.4752T>G (p.Asn1584Lys) c.4872T>G (p.Asn1624Lys) c.4800T>G (p.Asn1600Lys) c.1566T>G (p.Asn522Lys) c.1428T>G (p.Asn476Lys) c.3990T>G (p.Asn1330Lys) c.4755T>G (p.Asn1585Lys) c.4944T>G (p.Asn1648Lys) c.4737T>G (p.Asn1579Lys) c.1440T>G (p.Asn480Lys) c.1485T>G (p.Asn495Lys) c.4941T>G (p.Asn1647Lys) c.1265T>G c.1452T>G (p.Asn484Lys) c.4661T>G (n.4661T>G) n.31T>G c.1191T>G (p.Asn397Lys) c.5-7085T>G (n.5-7085T>G) c.351T>G (p.Asn117Lys) c.-98-20846T>G (n.-98-20846T>G) n.5014T>G n.5055T>G
17	g.43071036A>G	CA500231756	BRCA1	c.4875T>C (p.Asn1625=) c.4878T>C (p.Asn1626=) c.4752T>C (p.Asn1584=) c.4872T>C (p.Asn1624=) c.4800T>C (p.Asn1600=) c.1566T>C (p.Asn522=) c.1428T>C (p.Asn476=) c.3990T>C (p.Asn1330=) c.4755T>C (p.Asn1585=) c.4944T>C (p.Asn1648=) c.4737T>C (p.Asn1579=) c.1440T>C (p.Asn480=) c.1485T>C (p.Asn495=) c.4941T>C (p.Asn1647=) c.1265T>C c.1452T>C (p.Asn484=) c.4661T>C (n.4661T>C) n.31T>C c.1191T>C (p.Asn397=) c.5-7085T>C (n.5-7085T>C) c.351T>C (p.Asn117=) c.-98-20846T>C (n.-98-20846T>C) n.5014T>C n.5055T>C	dbSNP gnomAD v2 gnomAD v4
17	g.43071036A>T	CA10591771	BRCA1	c.4875T>A (p.Asn1625Lys) c.4878T>A (p.Asn1626Lys) c.4752T>A (p.Asn1584Lys) c.4872T>A (p.Asn1624Lys) c.4800T>A (p.Asn1600Lys) c.1566T>A (p.Asn522Lys) c.1428T>A (p.Asn476Lys) c.3990T>A (p.Asn1330Lys) c.4755T>A (p.Asn1585Lys) c.4944T>A (p.Asn1648Lys) c.4737T>A (p.Asn1579Lys) c.1440T>A (p.Asn480Lys) c.1485T>A (p.Asn495Lys) c.4941T>A (p.Asn1647Lys) c.1265T>A c.1452T>A (p.Asn484Lys) c.4661T>A (n.4661T>A) n.31T>A c.1191T>A (p.Asn397Lys) c.5-7085T>A (n.5-7085T>A) c.351T>A (p.Asn117Lys) c.-98-20846T>A (n.-98-20846T>A) n.5014T>A n.5055T>A
17	g.43071036dup	CA10589640	BRCA1	c.4875dup (p.Ala1626CysfsTer?) c.4878dup (p.Ala1627CysfsTer?) c.4752dup (p.Ala1585CysfsTer?) c.4872dup (p.Ala1625CysfsTer?) c.4800dup (p.Ala1601CysfsTer?) c.1566dup (p.Ala523CysfsTer?) c.1428dup (p.Ala477CysfsTer?) c.3990dup (p.Ala1331CysfsTer?) c.4755dup (p.Ala1586CysfsTer?) c.4944dup (p.Ala1649CysfsTer?) c.4737dup (p.Ala1580CysfsTer?) c.1440dup (p.Ala481CysfsTer?) c.1485dup (p.Ala496CysfsTer?) c.4941dup (p.Ala1648CysfsTer?) c.1265dup c.1452dup (p.Ala485CysfsTer?) c.4661dup (n.4661dup) n.31dup c.1191dup (p.Ala398CysfsTer?) c.5-7085dup (n.5-7085dup) c.351dup (p.Ala118CysfsTer?) c.-98-20846dup (n.-98-20846dup) n.5014dup n.5055dup	ClinVar dbSNP
17	g.43071036_43071037delinsAT	CA2260772860	BRCA1	c.4874_4875delinsAT (p.Asn1625=) c.4877_4878delinsAT (p.Asn1626=) c.4751_4752delinsAT (p.Asn1584=) c.4871_4872delinsAT (p.Asn1624=) c.4799_4800delinsAT (p.Asn1600=) c.1565_1566delinsAT (p.Asn522=) c.1427_1428delinsAT (p.Asn476=) c.3989_3990delinsAT (p.Asn1330=) c.4754_4755delinsAT (p.Asn1585=) c.4943_4944delinsAT (p.Asn1648=) c.4736_4737delinsAT (p.Asn1579=) c.1439_1440delinsAT (p.Asn480=) c.1484_1485delinsAT (p.Asn495=) c.4940_4941delinsAT (p.Asn1647=) c.1264_1265delinsAT c.1451_1452delinsAT (p.Asn484=) c.4660_4661delinsAT (n.4660_4661delinsAT) n.30_31delinsAT c.1190_1191delinsAT (p.Asn397=) c.5-7086_5-7085delinsAT (n.5-7086_5-7085delinsAT) c.350_351delinsAT (p.Asn117=) c.-98-20847_-98-20846delinsAT (n.-98-20847_-98-20846delinsAT) n.5013_5014delinsAT n.5054_5055delinsAT
17	g.43071037T>A	CA10591772	BRCA1	c.4874A>T (p.Asn1625Ile) c.4877A>T (p.Asn1626Ile) c.4751A>T (p.Asn1584Ile) c.4871A>T (p.Asn1624Ile) c.4799A>T (p.Asn1600Ile) c.1565A>T (p.Asn522Ile) c.1427A>T (p.Asn476Ile) c.3989A>T (p.Asn1330Ile) c.4754A>T (p.Asn1585Ile) c.4943A>T (p.Asn1648Ile) c.4736A>T (p.Asn1579Ile) c.1439A>T (p.Asn480Ile) c.1484A>T (p.Asn495Ile) c.4940A>T (p.Asn1647Ile) c.1264A>T c.1451A>T (p.Asn484Ile) c.4660A>T (n.4660A>T) n.30A>T c.1190A>T (p.Asn397Ile) c.5-7086A>T (n.5-7086A>T) c.350A>T (p.Asn117Ile) c.-98-20847A>T (n.-98-20847A>T) n.5013A>T n.5054A>T	dbSNP
17	g.43071037T>C	CA10591773	BRCA1	c.4874A>G (p.Asn1625Ser) c.4877A>G (p.Asn1626Ser) c.4751A>G (p.Asn1584Ser) c.4871A>G (p.Asn1624Ser) c.4799A>G (p.Asn1600Ser) c.1565A>G (p.Asn522Ser) c.1427A>G (p.Asn476Ser) c.3989A>G (p.Asn1330Ser) c.4754A>G (p.Asn1585Ser) c.4943A>G (p.Asn1648Ser) c.4736A>G (p.Asn1579Ser) c.1439A>G (p.Asn480Ser) c.1484A>G (p.Asn495Ser) c.4940A>G (p.Asn1647Ser) c.1264A>G c.1451A>G (p.Asn484Ser) c.4660A>G (n.4660A>G) n.30A>G c.1190A>G (p.Asn397Ser) c.5-7086A>G (n.5-7086A>G) c.350A>G (p.Asn117Ser) c.-98-20847A>G (n.-98-20847A>G) n.5013A>G n.5054A>G	gnomAD v4
17	g.43071037T>G	CA10591774	BRCA1	c.4874A>C (p.Asn1625Thr) c.4877A>C (p.Asn1626Thr) c.4751A>C (p.Asn1584Thr) c.4871A>C (p.Asn1624Thr) c.4799A>C (p.Asn1600Thr) c.1565A>C (p.Asn522Thr) c.1427A>C (p.Asn476Thr) c.3989A>C (p.Asn1330Thr) c.4754A>C (p.Asn1585Thr) c.4943A>C (p.Asn1648Thr) c.4736A>C (p.Asn1579Thr) c.1439A>C (p.Asn480Thr) c.1484A>C (p.Asn495Thr) c.4940A>C (p.Asn1647Thr) c.1264A>C c.1451A>C (p.Asn484Thr) c.4660A>C (n.4660A>C) n.30A>C c.1190A>C (p.Asn397Thr) c.5-7086A>C (n.5-7086A>C) c.350A>C (p.Asn117Thr) c.-98-20847A>C (n.-98-20847A>C) n.5013A>C n.5054A>C
17	g.43071038del	CA10589641	BRCA1	c.4874del (p.Asn1625MetfsTer7) c.4877del (p.Asn1626MetfsTer7) c.4751del (p.Asn1584MetfsTer7) c.4871del (p.Asn1624MetfsTer7) c.4799del (p.Asn1600MetfsTer7) c.1565del (p.Asn522MetfsTer7) c.1427del (p.Asn476MetfsTer7) c.3989del (p.Asn1330MetfsTer7) c.4754del (p.Asn1585MetfsTer7) c.4943del (p.Asn1648MetfsTer7) c.4736del (p.Asn1579MetfsTer7) c.1439del (p.Asn480MetfsTer7) c.1484del (p.Asn495MetfsTer7) c.4940del (p.Asn1647MetfsTer7) c.1264del c.1451del (p.Asn484MetfsTer7) c.4660del (n.4660del) n.30del c.1190del (p.Asn397MetfsTer7) c.5-7086del (n.5-7086del) c.350del (p.Asn117MetfsTer7) c.-98-20847del (n.-98-20847del) n.5013del n.5054del	ClinVar dbSNP
17	g.43071038T>A	CA10591775	BRCA1	c.4873A>T (p.Asn1625Tyr) c.4876A>T (p.Asn1626Tyr) c.4750A>T (p.Asn1584Tyr) c.4870A>T (p.Asn1624Tyr) c.4798A>T (p.Asn1600Tyr) c.1564A>T (p.Asn522Tyr) c.1426A>T (p.Asn476Tyr) c.3988A>T (p.Asn1330Tyr) c.4753A>T (p.Asn1585Tyr) c.4942A>T (p.Asn1648Tyr) c.4735A>T (p.Asn1579Tyr) c.1438A>T (p.Asn480Tyr) c.1483A>T (p.Asn495Tyr) c.4939A>T (p.Asn1647Tyr) c.1263A>T c.1450A>T (p.Asn484Tyr) c.4659A>T (n.4659A>T) n.29A>T c.1189A>T (p.Asn397Tyr) c.5-7087A>T (n.5-7087A>T) c.349A>T (p.Asn117Tyr) c.-98-20848A>T (n.-98-20848A>T) n.5012A>T n.5053A>T	dbSNP
17	g.43071038T>C	CA10591776	BRCA1	c.4873A>G (p.Asn1625Asp) c.4876A>G (p.Asn1626Asp) c.4750A>G (p.Asn1584Asp) c.4870A>G (p.Asn1624Asp) c.4798A>G (p.Asn1600Asp) c.1564A>G (p.Asn522Asp) c.1426A>G (p.Asn476Asp) c.3988A>G (p.Asn1330Asp) c.4753A>G (p.Asn1585Asp) c.4942A>G (p.Asn1648Asp) c.4735A>G (p.Asn1579Asp) c.1438A>G (p.Asn480Asp) c.1483A>G (p.Asn495Asp) c.4939A>G (p.Asn1647Asp) c.1263A>G c.1450A>G (p.Asn484Asp) c.4659A>G (n.4659A>G) n.29A>G c.1189A>G (p.Asn397Asp) c.5-7087A>G (n.5-7087A>G) c.349A>G (p.Asn117Asp) c.-98-20848A>G (n.-98-20848A>G) n.5012A>G n.5053A>G	ClinVar
17	g.43071038T>G	CA10591777	BRCA1	c.4873A>C (p.Asn1625His) c.4876A>C (p.Asn1626His) c.4750A>C (p.Asn1584His) c.4870A>C (p.Asn1624His) c.4798A>C (p.Asn1600His) c.1564A>C (p.Asn522His) c.1426A>C (p.Asn476His) c.3988A>C (p.Asn1330His) c.4753A>C (p.Asn1585His) c.4942A>C (p.Asn1648His) c.4735A>C (p.Asn1579His) c.1438A>C (p.Asn480His) c.1483A>C (p.Asn495His) c.4939A>C (p.Asn1647His) c.1263A>C c.1450A>C (p.Asn484His) c.4659A>C (n.4659A>C) n.29A>C c.1189A>C (p.Asn397His) c.5-7087A>C (n.5-7087A>C) c.349A>C (p.Asn117His) c.-98-20848A>C (n.-98-20848A>C) n.5012A>C n.5053A>C
17	g.43071038_43071041dup	CA2695225906	BRCA1	c.4870_4873dup (p.Asn1625IlefsTer2) c.4873_4876dup (p.Asn1626IlefsTer2) c.4747_4750dup (p.Asn1584IlefsTer2) c.4867_4870dup (p.Asn1624IlefsTer2) c.4795_4798dup (p.Asn1600IlefsTer2) c.1561_1564dup (p.Asn522IlefsTer2) c.1423_1426dup (p.Asn476IlefsTer2) c.3985_3988dup (p.Asn1330IlefsTer2) c.4750_4753dup (p.Asn1585IlefsTer2) c.4939_4942dup (p.Asn1648IlefsTer2) c.4732_4735dup (p.Asn1579IlefsTer2) c.1435_1438dup (p.Asn480IlefsTer2) c.1480_1483dup (p.Asn495IlefsTer2) c.4936_4939dup (p.Asn1647IlefsTer2) c.1260_1263dup c.1447_1450dup (p.Asn484IlefsTer2) c.4656_4659dup (n.4656_4659dup) n.26_29dup c.1186_1189dup (p.Asn397IlefsTer2) c.5-7090_5-7087dup (n.5-7090_5-7087dup) c.346_349dup (p.Asn117IlefsTer2) c.-98-20851_-98-20848dup (n.-98-20851_-98-20848dup) n.5009_5012dup n.5050_5053dup
17	g.43071039A=	CA2260772862	BRCA1	c.4872T= (p.Tyr1624=) c.4875T= (p.Tyr1625=) c.4749T= (p.Tyr1583=) c.4869T= (p.Tyr1623=) c.4797T= (p.Tyr1599=) c.1563T= (p.Tyr521=) c.1425T= (p.Tyr475=) c.3987T= (p.Tyr1329=) c.4752T= (p.Tyr1584=) c.4941T= (p.Tyr1647=) c.4734T= (p.Tyr1578=) c.1437T= (p.Tyr479=) c.1482T= (p.Tyr494=) c.4938T= (p.Tyr1646=) c.1262T= c.1449T= (p.Tyr483=) c.4658T= (n.4658T=) n.28T= c.1188T= (p.Tyr396=) c.5-7088T= (n.5-7088T=) c.348T= (p.Tyr116=) c.-98-20849T= (n.-98-20849T=) n.5011T= n.5052T=
17	g.43071039A>C	CA10591778	BRCA1	c.4872T>G (p.Tyr1624Ter) c.4875T>G (p.Tyr1625Ter) c.4749T>G (p.Tyr1583Ter) c.4869T>G (p.Tyr1623Ter) c.4797T>G (p.Tyr1599Ter) c.1563T>G (p.Tyr521Ter) c.1425T>G (p.Tyr475Ter) c.3987T>G (p.Tyr1329Ter) c.4752T>G (p.Tyr1584Ter) c.4941T>G (p.Tyr1647Ter) c.4734T>G (p.Tyr1578Ter) c.1437T>G (p.Tyr479Ter) c.1482T>G (p.Tyr494Ter) c.4938T>G (p.Tyr1646Ter) c.1262T>G c.1449T>G (p.Tyr483Ter) c.4658T>G (n.4658T>G) n.28T>G c.1188T>G (p.Tyr396Ter) c.5-7088T>G (n.5-7088T>G) c.348T>G (p.Tyr116Ter) c.-98-20849T>G (n.-98-20849T>G) n.5011T>G n.5052T>G	ClinVar dbSNP
17	g.43071039A>G	CA500231761	BRCA1	c.4872T>C (p.Tyr1624=) c.4875T>C (p.Tyr1625=) c.4749T>C (p.Tyr1583=) c.4869T>C (p.Tyr1623=) c.4797T>C (p.Tyr1599=) c.1563T>C (p.Tyr521=) c.1425T>C (p.Tyr475=) c.3987T>C (p.Tyr1329=) c.4752T>C (p.Tyr1584=) c.4941T>C (p.Tyr1647=) c.4734T>C (p.Tyr1578=) c.1437T>C (p.Tyr479=) c.1482T>C (p.Tyr494=) c.4938T>C (p.Tyr1646=) c.1262T>C c.1449T>C (p.Tyr483=) c.4658T>C (n.4658T>C) n.28T>C c.1188T>C (p.Tyr396=) c.5-7088T>C (n.5-7088T>C) c.348T>C (p.Tyr116=) c.-98-20849T>C (n.-98-20849T>C) n.5011T>C n.5052T>C
17	g.43071039A>T	CA10589642	BRCA1	c.4872T>A (p.Tyr1624Ter) c.4875T>A (p.Tyr1625Ter) c.4749T>A (p.Tyr1583Ter) c.4869T>A (p.Tyr1623Ter) c.4797T>A (p.Tyr1599Ter) c.1563T>A (p.Tyr521Ter) c.1425T>A (p.Tyr475Ter) c.3987T>A (p.Tyr1329Ter) c.4752T>A (p.Tyr1584Ter) c.4941T>A (p.Tyr1647Ter) c.4734T>A (p.Tyr1578Ter) c.1437T>A (p.Tyr479Ter) c.1482T>A (p.Tyr494Ter) c.4938T>A (p.Tyr1646Ter) c.1262T>A c.1449T>A (p.Tyr483Ter) c.4658T>A (n.4658T>A) n.28T>A c.1188T>A (p.Tyr396Ter) c.5-7088T>A (n.5-7088T>A) c.348T>A (p.Tyr116Ter) c.-98-20849T>A (n.-98-20849T>A) n.5011T>A n.5052T>A	ClinVar dbSNP
17	g.43071040T>A	CA10591779	BRCA1	c.4871A>T (p.Tyr1624Phe) c.4874A>T (p.Tyr1625Phe) c.4748A>T (p.Tyr1583Phe) c.4868A>T (p.Tyr1623Phe) c.4796A>T (p.Tyr1599Phe) c.1562A>T (p.Tyr521Phe) c.1424A>T (p.Tyr475Phe) c.3986A>T (p.Tyr1329Phe) c.4751A>T (p.Tyr1584Phe) c.4940A>T (p.Tyr1647Phe) c.4733A>T (p.Tyr1578Phe) c.1436A>T (p.Tyr479Phe) c.1481A>T (p.Tyr494Phe) c.4937A>T (p.Tyr1646Phe) c.1261A>T c.1448A>T (p.Tyr483Phe) c.4657A>T (n.4657A>T) n.27A>T c.1187A>T (p.Tyr396Phe) c.5-7089A>T (n.5-7089A>T) c.347A>T (p.Tyr116Phe) c.-98-20850A>T (n.-98-20850A>T) n.5010A>T n.5051A>T	ClinVar dbSNP
17	g.43071040T>C	CA003060	BRCA1	c.4871A>G (p.Tyr1624Cys) c.4874A>G (p.Tyr1625Cys) c.4748A>G (p.Tyr1583Cys) c.4868A>G (p.Tyr1623Cys) c.4796A>G (p.Tyr1599Cys) c.1562A>G (p.Tyr521Cys) c.1424A>G (p.Tyr475Cys) c.3986A>G (p.Tyr1329Cys) c.4751A>G (p.Tyr1584Cys) c.4940A>G (p.Tyr1647Cys) c.4733A>G (p.Tyr1578Cys) c.1436A>G (p.Tyr479Cys) c.1481A>G (p.Tyr494Cys) c.4937A>G (p.Tyr1646Cys) c.1261A>G c.1448A>G (p.Tyr483Cys) c.4657A>G (n.4657A>G) n.27A>G c.1187A>G (p.Tyr396Cys) c.5-7089A>G (n.5-7089A>G) c.347A>G (p.Tyr116Cys) c.-98-20850A>G (n.-98-20850A>G) n.5010A>G n.5051A>G	ClinVar dbSNP
17	g.43071040T>G	CA10591780	BRCA1	c.4871A>C (p.Tyr1624Ser) c.4874A>C (p.Tyr1625Ser) c.4748A>C (p.Tyr1583Ser) c.4868A>C (p.Tyr1623Ser) c.4796A>C (p.Tyr1599Ser) c.1562A>C (p.Tyr521Ser) c.1424A>C (p.Tyr475Ser) c.3986A>C (p.Tyr1329Ser) c.4751A>C (p.Tyr1584Ser) c.4940A>C (p.Tyr1647Ser) c.4733A>C (p.Tyr1578Ser) c.1436A>C (p.Tyr479Ser) c.1481A>C (p.Tyr494Ser) c.4937A>C (p.Tyr1646Ser) c.1261A>C c.1448A>C (p.Tyr483Ser) c.4657A>C (n.4657A>C) n.27A>C c.1187A>C (p.Tyr396Ser) c.5-7089A>C (n.5-7089A>C) c.347A>C (p.Tyr116Ser) c.-98-20850A>C (n.-98-20850A>C) n.5010A>C n.5051A>C	dbSNP
17	g.43071040T=	CA2260772863	BRCA1	c.4871A= (p.Tyr1624=) c.4874A= (p.Tyr1625=) c.4748A= (p.Tyr1583=) c.4868A= (p.Tyr1623=) c.4796A= (p.Tyr1599=) c.1562A= (p.Tyr521=) c.1424A= (p.Tyr475=) c.3986A= (p.Tyr1329=) c.4751A= (p.Tyr1584=) c.4940A= (p.Tyr1647=) c.4733A= (p.Tyr1578=) c.1436A= (p.Tyr479=) c.1481A= (p.Tyr494=) c.4937A= (p.Tyr1646=) c.1261A= c.1448A= (p.Tyr483=) c.4657A= (n.4657A=) n.27A= c.1187A= (p.Tyr396=) c.5-7089A= (n.5-7089A=) c.347A= (p.Tyr116=) c.-98-20850A= (n.-98-20850A=) n.5010A= n.5051A=
17	g.43071041A=	CA2260772864	BRCA1	c.4870T= (p.Tyr1624=) c.4873T= (p.Tyr1625=) c.4747T= (p.Tyr1583=) c.4867T= (p.Tyr1623=) c.4795T= (p.Tyr1599=) c.1561T= (p.Tyr521=) c.1423T= (p.Tyr475=) c.3985T= (p.Tyr1329=) c.4750T= (p.Tyr1584=) c.4939T= (p.Tyr1647=) c.4732T= (p.Tyr1578=) c.1435T= (p.Tyr479=) c.1480T= (p.Tyr494=) c.4936T= (p.Tyr1646=) c.1260T= c.1447T= (p.Tyr483=) c.4656T= (n.4656T=) n.26T= c.1186T= (p.Tyr396=) c.5-7090T= (n.5-7090T=) c.346T= (p.Tyr116=) c.-98-20851T= (n.-98-20851T=) n.5009T= n.5050T=
17	g.43071041A>C	CA10591781	BRCA1	c.4870T>G (p.Tyr1624Asp) c.4873T>G (p.Tyr1625Asp) c.4747T>G (p.Tyr1583Asp) c.4867T>G (p.Tyr1623Asp) c.4795T>G (p.Tyr1599Asp) c.1561T>G (p.Tyr521Asp) c.1423T>G (p.Tyr475Asp) c.3985T>G (p.Tyr1329Asp) c.4750T>G (p.Tyr1584Asp) c.4939T>G (p.Tyr1647Asp) c.4732T>G (p.Tyr1578Asp) c.1435T>G (p.Tyr479Asp) c.1480T>G (p.Tyr494Asp) c.4936T>G (p.Tyr1646Asp) c.1260T>G c.1447T>G (p.Tyr483Asp) c.4656T>G (n.4656T>G) n.26T>G c.1186T>G (p.Tyr396Asp) c.5-7090T>G (n.5-7090T>G) c.346T>G (p.Tyr116Asp) c.-98-20851T>G (n.-98-20851T>G) n.5009T>G n.5050T>G
17	g.43071041A>G	CA10591782	BRCA1	c.4870T>C (p.Tyr1624His) c.4873T>C (p.Tyr1625His) c.4747T>C (p.Tyr1583His) c.4867T>C (p.Tyr1623His) c.4795T>C (p.Tyr1599His) c.1561T>C (p.Tyr521His) c.1423T>C (p.Tyr475His) c.3985T>C (p.Tyr1329His) c.4750T>C (p.Tyr1584His) c.4939T>C (p.Tyr1647His) c.4732T>C (p.Tyr1578His) c.1435T>C (p.Tyr479His) c.1480T>C (p.Tyr494His) c.4936T>C (p.Tyr1646His) c.1260T>C c.1447T>C (p.Tyr483His) c.4656T>C (n.4656T>C) n.26T>C c.1186T>C (p.Tyr396His) c.5-7090T>C (n.5-7090T>C) c.346T>C (p.Tyr116His) c.-98-20851T>C (n.-98-20851T>C) n.5009T>C n.5050T>C	ClinVar
17	g.43071041A>T	CA10591783	BRCA1	c.4870T>A (p.Tyr1624Asn) c.4873T>A (p.Tyr1625Asn) c.4747T>A (p.Tyr1583Asn) c.4867T>A (p.Tyr1623Asn) c.4795T>A (p.Tyr1599Asn) c.1561T>A (p.Tyr521Asn) c.1423T>A (p.Tyr475Asn) c.3985T>A (p.Tyr1329Asn) c.4750T>A (p.Tyr1584Asn) c.4939T>A (p.Tyr1647Asn) c.4732T>A (p.Tyr1578Asn) c.1435T>A (p.Tyr479Asn) c.1480T>A (p.Tyr494Asn) c.4936T>A (p.Tyr1646Asn) c.1260T>A c.1447T>A (p.Tyr483Asn) c.4656T>A (n.4656T>A) n.26T>A c.1186T>A (p.Tyr396Asn) c.5-7090T>A (n.5-7090T>A) c.346T>A (p.Tyr116Asn) c.-98-20851T>A (n.-98-20851T>A) n.5009T>A n.5050T>A	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.43071042C>A	CA290829463	BRCA1	c.4869G>T (p.Gly1623=) c.4872G>T (p.Gly1624=) c.4746G>T (p.Gly1582=) c.4866G>T (p.Gly1622=) c.4794G>T (p.Gly1598=) c.1560G>T (p.Gly520=) c.1422G>T (p.Gly474=) c.3984G>T (p.Gly1328=) c.4749G>T (p.Gly1583=) c.4938G>T (p.Gly1646=) c.4731G>T (p.Gly1577=) c.1434G>T (p.Gly478=) c.1479G>T (p.Gly493=) c.4935G>T (p.Gly1645=) c.1259G>T c.1446G>T (p.Gly482=) c.4655G>T (n.4655G>T) n.25G>T c.1185G>T (p.Gly395=) c.5-7091G>T (n.5-7091G>T) c.345G>T (p.Gly115=) c.-98-20852G>T (n.-98-20852G>T) n.5008G>T n.5049G>T	ClinVar dbSNP gnomAD v4
17	g.43071042C=	CA2260772865	BRCA1	c.4869G= (p.Gly1623=) c.4872G= (p.Gly1624=) c.4746G= (p.Gly1582=) c.4866G= (p.Gly1622=) c.4794G= (p.Gly1598=) c.1560G= (p.Gly520=) c.1422G= (p.Gly474=) c.3984G= (p.Gly1328=) c.4749G= (p.Gly1583=) c.4938G= (p.Gly1646=) c.4731G= (p.Gly1577=) c.1434G= (p.Gly478=) c.1479G= (p.Gly493=) c.4935G= (p.Gly1645=) c.1259G= c.1446G= (p.Gly482=) c.4655G= (n.4655G=) n.25G= c.1185G= (p.Gly395=) c.5-7091G= (n.5-7091G=) c.345G= (p.Gly115=) c.-98-20852G= (n.-98-20852G=) n.5008G= n.5049G=
17	g.43071042C>G	CA500231765	BRCA1	c.4869G>C (p.Gly1623=) c.4872G>C (p.Gly1624=) c.4746G>C (p.Gly1582=) c.4866G>C (p.Gly1622=) c.4794G>C (p.Gly1598=) c.1560G>C (p.Gly520=) c.1422G>C (p.Gly474=) c.3984G>C (p.Gly1328=) c.4749G>C (p.Gly1583=) c.4938G>C (p.Gly1646=) c.4731G>C (p.Gly1577=) c.1434G>C (p.Gly478=) c.1479G>C (p.Gly493=) c.4935G>C (p.Gly1645=) c.1259G>C c.1446G>C (p.Gly482=) c.4655G>C (n.4655G>C) n.25G>C c.1185G>C (p.Gly395=) c.5-7091G>C (n.5-7091G>C) c.345G>C (p.Gly115=) c.-98-20852G>C (n.-98-20852G>C) n.5008G>C n.5049G>C	dbSNP gnomAD v4
17	g.43071042C>T	CA500231766	BRCA1	c.4869G>A (p.Gly1623=) c.4872G>A (p.Gly1624=) c.4746G>A (p.Gly1582=) c.4866G>A (p.Gly1622=) c.4794G>A (p.Gly1598=) c.1560G>A (p.Gly520=) c.1422G>A (p.Gly474=) c.3984G>A (p.Gly1328=) c.4749G>A (p.Gly1583=) c.4938G>A (p.Gly1646=) c.4731G>A (p.Gly1577=) c.1434G>A (p.Gly478=) c.1479G>A (p.Gly493=) c.4935G>A (p.Gly1645=) c.1259G>A c.1446G>A (p.Gly482=) c.4655G>A (n.4655G>A) n.25G>A c.1185G>A (p.Gly395=) c.5-7091G>A (n.5-7091G>A) c.345G>A (p.Gly115=) c.-98-20852G>A (n.-98-20852G>A) n.5008G>A n.5049G>A	ClinVar dbSNP gnomAD v4
17	g.43071044del	CA2573054439	BRCA1	c.4869del (p.Tyr1624IlefsTer8) c.4872del (p.Tyr1625IlefsTer8) c.4746del (p.Tyr1583IlefsTer8) c.4866del (p.Tyr1623IlefsTer8) c.4794del (p.Tyr1599IlefsTer8) c.1560del (p.Tyr521IlefsTer8) c.1422del (p.Tyr475IlefsTer8) c.3984del (p.Tyr1329IlefsTer8) c.4749del (p.Tyr1584IlefsTer8) c.4938del (p.Tyr1647IlefsTer8) c.4731del (p.Tyr1578IlefsTer8) c.1434del (p.Tyr479IlefsTer8) c.1479del (p.Tyr494IlefsTer8) c.4935del (p.Tyr1646IlefsTer8) c.1259del c.1446del (p.Tyr483IlefsTer8) c.4655del (n.4655del) n.25del c.1185del (p.Tyr396IlefsTer8) c.5-7091del (n.5-7091del) c.345del (p.Tyr116IlefsTer8) c.-98-20852del (n.-98-20852del) n.5008del n.5049del	ClinVar dbSNP
17	g.43071042_43071052delinsCCCAGCAGTAT	CA2260772866	BRCA1	c.4859_4869delinsATACTGCTGGG (p.Asp1620=) c.4862_4872delinsATACTGCTGGG (p.Asp1621=) c.4736_4746delinsATACTGCTGGG (p.Asp1579=) c.4856_4866delinsATACTGCTGGG (p.Asp1619=) c.4784_4794delinsATACTGCTGGG (p.Asp1595=) c.1550_1560delinsATACTGCTGGG (p.Asp517=) c.1412_1422delinsATACTGCTGGG (p.Asp471=) c.3974_3984delinsATACTGCTGGG (p.Asp1325=) c.4739_4749delinsATACTGCTGGG (p.Asp1580=) c.4928_4938delinsATACTGCTGGG (p.Asp1643=) c.4721_4731delinsATACTGCTGGG (p.Asp1574=) c.1424_1434delinsATACTGCTGGG (p.Asp475=) c.1469_1479delinsATACTGCTGGG (p.Asp490=) c.4925_4935delinsATACTGCTGGG (p.Asp1642=) c.1249_1259delinsATACTGCTGGG c.1436_1446delinsATACTGCTGGG (p.Asp479=) c.4645_4655delinsATACTGCTGGG (n.4645_4655delinsATACTGCTGGG) n.15_25delinsATACTGCTGGG c.1175_1185delinsATACTGCTGGG (p.Asp392=) c.5-7101_5-7091delinsATACTGCTGGG (n.5-7101_5-7091delinsATACTGCTGGG) c.335_345delinsATACTGCTGGG (p.Asp112=) c.-98-20862_-98-20852delinsATACTGCTGGG (n.-98-20862_-98-20852delinsATACTGCTGGG) n.4998_5008delinsATACTGCTGGG n.5039_5049delinsATACTGCTGGG
17	g.43071043C>A	CA10591784	BRCA1	c.4868G>T (p.Gly1623Val) c.4871G>T (p.Gly1624Val) c.4745G>T (p.Gly1582Val) c.4865G>T (p.Gly1622Val) c.4793G>T (p.Gly1598Val) c.1559G>T (p.Gly520Val) c.1421G>T (p.Gly474Val) c.3983G>T (p.Gly1328Val) c.4748G>T (p.Gly1583Val) c.4937G>T (p.Gly1646Val) c.4730G>T (p.Gly1577Val) c.1433G>T (p.Gly478Val) c.1478G>T (p.Gly493Val) c.4934G>T (p.Gly1645Val) c.1258G>T c.1445G>T (p.Gly482Val) c.4654G>T (n.4654G>T) n.24G>T c.1184G>T (p.Gly395Val) c.5-7092G>T (n.5-7092G>T) c.344G>T (p.Gly115Val) c.-98-20853G>T (n.-98-20853G>T) n.5007G>T n.5048G>T	dbSNP
17	g.43071043C=	CA2260772867	BRCA1	c.4868G= (p.Gly1623=) c.4871G= (p.Gly1624=) c.4745G= (p.Gly1582=) c.4865G= (p.Gly1622=) c.4793G= (p.Gly1598=) c.1559G= (p.Gly520=) c.1421G= (p.Gly474=) c.3983G= (p.Gly1328=) c.4748G= (p.Gly1583=) c.4937G= (p.Gly1646=) c.4730G= (p.Gly1577=) c.1433G= (p.Gly478=) c.1478G= (p.Gly493=) c.4934G= (p.Gly1645=) c.1258G= c.1445G= (p.Gly482=) c.4654G= (n.4654G=) n.24G= c.1184G= (p.Gly395=) c.5-7092G= (n.5-7092G=) c.344G= (p.Gly115=) c.-98-20853G= (n.-98-20853G=) n.5007G= n.5048G=
17	g.43071043C>G	CA10591785	BRCA1	c.4868G>C (p.Gly1623Ala) c.4871G>C (p.Gly1624Ala) c.4745G>C (p.Gly1582Ala) c.4865G>C (p.Gly1622Ala) c.4793G>C (p.Gly1598Ala) c.1559G>C (p.Gly520Ala) c.1421G>C (p.Gly474Ala) c.3983G>C (p.Gly1328Ala) c.4748G>C (p.Gly1583Ala) c.4937G>C (p.Gly1646Ala) c.4730G>C (p.Gly1577Ala) c.1433G>C (p.Gly478Ala) c.1478G>C (p.Gly493Ala) c.4934G>C (p.Gly1645Ala) c.1258G>C c.1445G>C (p.Gly482Ala) c.4654G>C (n.4654G>C) n.24G>C c.1184G>C (p.Gly395Ala) c.5-7092G>C (n.5-7092G>C) c.344G>C (p.Gly115Ala) c.-98-20853G>C (n.-98-20853G>C) n.5007G>C n.5048G>C	ClinVar dbSNP
17	g.43071043C>T	CA10591786	BRCA1	c.4868G>A (p.Gly1623Glu) c.4871G>A (p.Gly1624Glu) c.4745G>A (p.Gly1582Glu) c.4865G>A (p.Gly1622Glu) c.4793G>A (p.Gly1598Glu) c.1559G>A (p.Gly520Glu) c.1421G>A (p.Gly474Glu) c.3983G>A (p.Gly1328Glu) c.4748G>A (p.Gly1583Glu) c.4937G>A (p.Gly1646Glu) c.4730G>A (p.Gly1577Glu) c.1433G>A (p.Gly478Glu) c.1478G>A (p.Gly493Glu) c.4934G>A (p.Gly1645Glu) c.1258G>A c.1445G>A (p.Gly482Glu) c.4654G>A (n.4654G>A) n.24G>A c.1184G>A (p.Gly395Glu) c.5-7092G>A (n.5-7092G>A) c.344G>A (p.Gly115Glu) c.-98-20853G>A (n.-98-20853G>A) n.5007G>A n.5048G>A	ClinVar dbSNP
17	g.43071044_43071053del	CA658656618	BRCA1	c.4859_4868del (p.Asp1620GlyfsTer9) c.4862_4871del (p.Asp1621GlyfsTer9) c.4736_4745del (p.Asp1579GlyfsTer9) c.4856_4865del (p.Asp1619GlyfsTer9) c.4784_4793del (p.Asp1595GlyfsTer9) c.1550_1559del (p.Asp517GlyfsTer9) c.1412_1421del (p.Asp471GlyfsTer9) c.3974_3983del (p.Asp1325GlyfsTer9) c.4739_4748del (p.Asp1580GlyfsTer9) c.4928_4937del (p.Asp1643GlyfsTer9) c.4721_4730del (p.Asp1574GlyfsTer9) c.1424_1433del (p.Asp475GlyfsTer9) c.1469_1478del (p.Asp490GlyfsTer9) c.4925_4934del (p.Asp1642GlyfsTer9) c.1249_1258del c.1436_1445del (p.Asp479GlyfsTer9) c.4645_4654del (n.4645_4654del) n.15_24del c.1175_1184del (p.Asp392GlyfsTer9) c.5-7101_5-7092del (n.5-7101_5-7092del) c.335_344del (p.Asp112GlyfsTer9) c.-98-20862_-98-20853del (n.-98-20862_-98-20853del) n.4998_5007del n.5039_5048del	ClinVar dbSNP
17	g.43071043_43071044insT	CA1139665578	BRCA1	c.4867_4868insA (p.Gly1623GlufsTer3) c.4870_4871insA (p.Gly1624GlufsTer3) c.4744_4745insA (p.Gly1582GlufsTer3) c.4864_4865insA (p.Gly1622GlufsTer3) c.4792_4793insA (p.Gly1598GlufsTer3) c.1558_1559insA (p.Gly520GlufsTer3) c.1420_1421insA (p.Gly474GlufsTer3) c.3982_3983insA (p.Gly1328GlufsTer3) c.4747_4748insA (p.Gly1583GlufsTer3) c.4936_4937insA (p.Gly1646GlufsTer3) c.4729_4730insA (p.Gly1577GlufsTer3) c.1432_1433insA (p.Gly478GlufsTer3) c.1477_1478insA (p.Gly493GlufsTer3) c.4933_4934insA (p.Gly1645GlufsTer3) c.1257_1258insA c.1444_1445insA (p.Gly482GlufsTer3) c.4653_4654insA (n.4653_4654insA) n.23_24insA c.1183_1184insA (p.Gly395GlufsTer3) c.5-7093_5-7092insA (n.5-7093_5-7092insA) c.343_344insA (p.Gly115GlufsTer3) c.-98-20854_-98-20853insA (n.-98-20854_-98-20853insA) n.5006_5007insA n.5047_5048insA	ClinVar dbSNP
17	g.43071044C>A	CA10591787	BRCA1	c.4867G>T (p.Gly1623Trp) c.4870G>T (p.Gly1624Trp) c.4744G>T (p.Gly1582Trp) c.4864G>T (p.Gly1622Trp) c.4792G>T (p.Gly1598Trp) c.1558G>T (p.Gly520Trp) c.1420G>T (p.Gly474Trp) c.3982G>T (p.Gly1328Trp) c.4747G>T (p.Gly1583Trp) c.4936G>T (p.Gly1646Trp) c.4729G>T (p.Gly1577Trp) c.1432G>T (p.Gly478Trp) c.1477G>T (p.Gly493Trp) c.4933G>T (p.Gly1645Trp) c.1257G>T c.1444G>T (p.Gly482Trp) c.4653G>T (n.4653G>T) n.23G>T c.1183G>T (p.Gly395Trp) c.5-7093G>T (n.5-7093G>T) c.343G>T (p.Gly115Trp) c.-98-20854G>T (n.-98-20854G>T) n.5006G>T n.5047G>T	dbSNP
17	g.43071044C>G	CA10591788	BRCA1	c.4867G>C (p.Gly1623Arg) c.4870G>C (p.Gly1624Arg) c.4744G>C (p.Gly1582Arg) c.4864G>C (p.Gly1622Arg) c.4792G>C (p.Gly1598Arg) c.1558G>C (p.Gly520Arg) c.1420G>C (p.Gly474Arg) c.3982G>C (p.Gly1328Arg) c.4747G>C (p.Gly1583Arg) c.4936G>C (p.Gly1646Arg) c.4729G>C (p.Gly1577Arg) c.1432G>C (p.Gly478Arg) c.1477G>C (p.Gly493Arg) c.4933G>C (p.Gly1645Arg) c.1257G>C c.1444G>C (p.Gly482Arg) c.4653G>C (n.4653G>C) n.23G>C c.1183G>C (p.Gly395Arg) c.5-7093G>C (n.5-7093G>C) c.343G>C (p.Gly115Arg) c.-98-20854G>C (n.-98-20854G>C) n.5006G>C n.5047G>C	dbSNP
17	g.43071044C>T	CA10591789	BRCA1	c.4867G>A (p.Gly1623Arg) c.4870G>A (p.Gly1624Arg) c.4744G>A (p.Gly1582Arg) c.4864G>A (p.Gly1622Arg) c.4792G>A (p.Gly1598Arg) c.1558G>A (p.Gly520Arg) c.1420G>A (p.Gly474Arg) c.3982G>A (p.Gly1328Arg) c.4747G>A (p.Gly1583Arg) c.4936G>A (p.Gly1646Arg) c.4729G>A (p.Gly1577Arg) c.1432G>A (p.Gly478Arg) c.1477G>A (p.Gly493Arg) c.4933G>A (p.Gly1645Arg) c.1257G>A c.1444G>A (p.Gly482Arg) c.4653G>A (n.4653G>A) n.23G>A c.1183G>A (p.Gly395Arg) c.5-7093G>A (n.5-7093G>A) c.343G>A (p.Gly115Arg) c.-98-20854G>A (n.-98-20854G>A) n.5006G>A n.5047G>A	dbSNP
17	g.43071045A>C	CA500231769	BRCA1	c.4866T>G (p.Ala1622=) c.4869T>G (p.Ala1623=) c.4743T>G (p.Ala1581=) c.4863T>G (p.Ala1621=) c.4791T>G (p.Ala1597=) c.1557T>G (p.Ala519=) c.1419T>G (p.Ala473=) c.3981T>G (p.Ala1327=) c.4746T>G (p.Ala1582=) c.4935T>G (p.Ala1645=) c.4728T>G (p.Ala1576=) c.1431T>G (p.Ala477=) c.1476T>G (p.Ala492=) c.4932T>G (p.Ala1644=) c.1256T>G c.1443T>G (p.Ala481=) c.4652T>G (n.4652T>G) n.22T>G c.1182T>G (p.Ala394=) c.5-7094T>G (n.5-7094T>G) c.342T>G (p.Ala114=) c.-98-20855T>G (n.-98-20855T>G) n.5005T>G n.5046T>G
17	g.43071045A>G	CA500231771	BRCA1	c.4866T>C (p.Ala1622=) c.4869T>C (p.Ala1623=) c.4743T>C (p.Ala1581=) c.4863T>C (p.Ala1621=) c.4791T>C (p.Ala1597=) c.1557T>C (p.Ala519=) c.1419T>C (p.Ala473=) c.3981T>C (p.Ala1327=) c.4746T>C (p.Ala1582=) c.4935T>C (p.Ala1645=) c.4728T>C (p.Ala1576=) c.1431T>C (p.Ala477=) c.1476T>C (p.Ala492=) c.4932T>C (p.Ala1644=) c.1256T>C c.1443T>C (p.Ala481=) c.4652T>C (n.4652T>C) n.22T>C c.1182T>C (p.Ala394=) c.5-7094T>C (n.5-7094T>C) c.342T>C (p.Ala114=) c.-98-20855T>C (n.-98-20855T>C) n.5005T>C n.5046T>C	ClinVar dbSNP
17	g.43071045A>T	CA500231773	BRCA1	c.4866T>A (p.Ala1622=) c.4869T>A (p.Ala1623=) c.4743T>A (p.Ala1581=) c.4863T>A (p.Ala1621=) c.4791T>A (p.Ala1597=) c.1557T>A (p.Ala519=) c.1419T>A (p.Ala473=) c.3981T>A (p.Ala1327=) c.4746T>A (p.Ala1582=) c.4935T>A (p.Ala1645=) c.4728T>A (p.Ala1576=) c.1431T>A (p.Ala477=) c.1476T>A (p.Ala492=) c.4932T>A (p.Ala1644=) c.1256T>A c.1443T>A (p.Ala481=) c.4652T>A (n.4652T>A) n.22T>A c.1182T>A (p.Ala394=) c.5-7094T>A (n.5-7094T>A) c.342T>A (p.Ala114=) c.-98-20855T>A (n.-98-20855T>A) n.5005T>A n.5046T>A	dbSNP
17	g.43071046G>A	CA10591790	BRCA1	c.4865C>T (p.Ala1622Val) c.4868C>T (p.Ala1623Val) c.4742C>T (p.Ala1581Val) c.4862C>T (p.Ala1621Val) c.4790C>T (p.Ala1597Val) c.1556C>T (p.Ala519Val) c.1418C>T (p.Ala473Val) c.3980C>T (p.Ala1327Val) c.4745C>T (p.Ala1582Val) c.4934C>T (p.Ala1645Val) c.4727C>T (p.Ala1576Val) c.1430C>T (p.Ala477Val) c.1475C>T (p.Ala492Val) c.4931C>T (p.Ala1644Val) c.1255C>T c.1442C>T (p.Ala481Val) c.4651C>T (n.4651C>T) n.21C>T c.1181C>T (p.Ala394Val) c.5-7095C>T (n.5-7095C>T) c.341C>T (p.Ala114Val) c.-98-20856C>T (n.-98-20856C>T) n.5004C>T n.5045C>T	ClinVar dbSNP
17	g.43071046G>C	CA003058	BRCA1	c.4865C>G (p.Ala1622Gly) c.4868C>G (p.Ala1623Gly) c.4742C>G (p.Ala1581Gly) c.4862C>G (p.Ala1621Gly) c.4790C>G (p.Ala1597Gly) c.1556C>G (p.Ala519Gly) c.1418C>G (p.Ala473Gly) c.3980C>G (p.Ala1327Gly) c.4745C>G (p.Ala1582Gly) c.4934C>G (p.Ala1645Gly) c.4727C>G (p.Ala1576Gly) c.1430C>G (p.Ala477Gly) c.1475C>G (p.Ala492Gly) c.4931C>G (p.Ala1644Gly) c.1255C>G c.1442C>G (p.Ala481Gly) c.4651C>G (n.4651C>G) n.21C>G c.1181C>G (p.Ala394Gly) c.5-7095C>G (n.5-7095C>G) c.341C>G (p.Ala114Gly) c.-98-20856C>G (n.-98-20856C>G) n.5004C>G n.5045C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071046G=	CA2260772868	BRCA1	c.4865C= (p.Ala1622=) c.4868C= (p.Ala1623=) c.4742C= (p.Ala1581=) c.4862C= (p.Ala1621=) c.4790C= (p.Ala1597=) c.1556C= (p.Ala519=) c.1418C= (p.Ala473=) c.3980C= (p.Ala1327=) c.4745C= (p.Ala1582=) c.4934C= (p.Ala1645=) c.4727C= (p.Ala1576=) c.1430C= (p.Ala477=) c.1475C= (p.Ala492=) c.4931C= (p.Ala1644=) c.1255C= c.1442C= (p.Ala481=) c.4651C= (n.4651C=) n.21C= c.1181C= (p.Ala394=) c.5-7095C= (n.5-7095C=) c.341C= (p.Ala114=) c.-98-20856C= (n.-98-20856C=) n.5004C= n.5045C=
17	g.43071046G>T	CA10591791	BRCA1	c.4865C>A (p.Ala1622Asp) c.4868C>A (p.Ala1623Asp) c.4742C>A (p.Ala1581Asp) c.4862C>A (p.Ala1621Asp) c.4790C>A (p.Ala1597Asp) c.1556C>A (p.Ala519Asp) c.1418C>A (p.Ala473Asp) c.3980C>A (p.Ala1327Asp) c.4745C>A (p.Ala1582Asp) c.4934C>A (p.Ala1645Asp) c.4727C>A (p.Ala1576Asp) c.1430C>A (p.Ala477Asp) c.1475C>A (p.Ala492Asp) c.4931C>A (p.Ala1644Asp) c.1255C>A c.1442C>A (p.Ala481Asp) c.4651C>A (n.4651C>A) n.21C>A c.1181C>A (p.Ala394Asp) c.5-7095C>A (n.5-7095C>A) c.341C>A (p.Ala114Asp) c.-98-20856C>A (n.-98-20856C>A) n.5004C>A n.5045C>A	dbSNP
17	g.43071047C>A	CA10591792	BRCA1	c.4864G>T (p.Ala1622Ser) c.4867G>T (p.Ala1623Ser) c.4741G>T (p.Ala1581Ser) c.4861G>T (p.Ala1621Ser) c.4789G>T (p.Ala1597Ser) c.1555G>T (p.Ala519Ser) c.1417G>T (p.Ala473Ser) c.3979G>T (p.Ala1327Ser) c.4744G>T (p.Ala1582Ser) c.4933G>T (p.Ala1645Ser) c.4726G>T (p.Ala1576Ser) c.1429G>T (p.Ala477Ser) c.1474G>T (p.Ala492Ser) c.4930G>T (p.Ala1644Ser) c.1254G>T c.1441G>T (p.Ala481Ser) c.4650G>T (n.4650G>T) n.20G>T c.1180G>T (p.Ala394Ser) c.5-7096G>T (n.5-7096G>T) c.340G>T (p.Ala114Ser) c.-98-20857G>T (n.-98-20857G>T) n.5003G>T n.5044G>T	ClinVar dbSNP
17	g.43071047C>G	CA10591793	BRCA1	c.4864G>C (p.Ala1622Pro) c.4867G>C (p.Ala1623Pro) c.4741G>C (p.Ala1581Pro) c.4861G>C (p.Ala1621Pro) c.4789G>C (p.Ala1597Pro) c.1555G>C (p.Ala519Pro) c.1417G>C (p.Ala473Pro) c.3979G>C (p.Ala1327Pro) c.4744G>C (p.Ala1582Pro) c.4933G>C (p.Ala1645Pro) c.4726G>C (p.Ala1576Pro) c.1429G>C (p.Ala477Pro) c.1474G>C (p.Ala492Pro) c.4930G>C (p.Ala1644Pro) c.1254G>C c.1441G>C (p.Ala481Pro) c.4650G>C (n.4650G>C) n.20G>C c.1180G>C (p.Ala394Pro) c.5-7096G>C (n.5-7096G>C) c.340G>C (p.Ala114Pro) c.-98-20857G>C (n.-98-20857G>C) n.5003G>C n.5044G>C	dbSNP
17	g.43071047C>T	CA10591794	BRCA1	c.4864G>A (p.Ala1622Thr) c.4867G>A (p.Ala1623Thr) c.4741G>A (p.Ala1581Thr) c.4861G>A (p.Ala1621Thr) c.4789G>A (p.Ala1597Thr) c.1555G>A (p.Ala519Thr) c.1417G>A (p.Ala473Thr) c.3979G>A (p.Ala1327Thr) c.4744G>A (p.Ala1582Thr) c.4933G>A (p.Ala1645Thr) c.4726G>A (p.Ala1576Thr) c.1429G>A (p.Ala477Thr) c.1474G>A (p.Ala492Thr) c.4930G>A (p.Ala1644Thr) c.1254G>A c.1441G>A (p.Ala481Thr) c.4650G>A (n.4650G>A) n.20G>A c.1180G>A (p.Ala394Thr) c.5-7096G>A (n.5-7096G>A) c.340G>A (p.Ala114Thr) c.-98-20857G>A (n.-98-20857G>A) n.5003G>A n.5044G>A	ClinVar dbSNP
17	g.43071048A>C	CA500231778	BRCA1	c.4863T>G (p.Thr1621=) c.4866T>G (p.Thr1622=) c.4740T>G (p.Thr1580=) c.4860T>G (p.Thr1620=) c.4788T>G (p.Thr1596=) c.1554T>G (p.Thr518=) c.1416T>G (p.Thr472=) c.3978T>G (p.Thr1326=) c.4743T>G (p.Thr1581=) c.4932T>G (p.Thr1644=) c.4725T>G (p.Thr1575=) c.1428T>G (p.Thr476=) c.1473T>G (p.Thr491=) c.4929T>G (p.Thr1643=) c.1253T>G c.1440T>G (p.Thr480=) c.4649T>G (n.4649T>G) n.19T>G c.1179T>G (p.Thr393=) c.5-7097T>G (n.5-7097T>G) c.339T>G (p.Thr113=) c.-98-20858T>G (n.-98-20858T>G) n.5002T>G n.5043T>G
17	g.43071048A>G	CA500231779	BRCA1	c.4863T>C (p.Thr1621=) c.4866T>C (p.Thr1622=) c.4740T>C (p.Thr1580=) c.4860T>C (p.Thr1620=) c.4788T>C (p.Thr1596=) c.1554T>C (p.Thr518=) c.1416T>C (p.Thr472=) c.3978T>C (p.Thr1326=) c.4743T>C (p.Thr1581=) c.4932T>C (p.Thr1644=) c.4725T>C (p.Thr1575=) c.1428T>C (p.Thr476=) c.1473T>C (p.Thr491=) c.4929T>C (p.Thr1643=) c.1253T>C c.1440T>C (p.Thr480=) c.4649T>C (n.4649T>C) n.19T>C c.1179T>C (p.Thr393=) c.5-7097T>C (n.5-7097T>C) c.339T>C (p.Thr113=) c.-98-20858T>C (n.-98-20858T>C) n.5002T>C n.5043T>C	ClinVar dbSNP
17	g.43071048A>T	CA500231780	BRCA1	c.4863T>A (p.Thr1621=) c.4866T>A (p.Thr1622=) c.4740T>A (p.Thr1580=) c.4860T>A (p.Thr1620=) c.4788T>A (p.Thr1596=) c.1554T>A (p.Thr518=) c.1416T>A (p.Thr472=) c.3978T>A (p.Thr1326=) c.4743T>A (p.Thr1581=) c.4932T>A (p.Thr1644=) c.4725T>A (p.Thr1575=) c.1428T>A (p.Thr476=) c.1473T>A (p.Thr491=) c.4929T>A (p.Thr1643=) c.1253T>A c.1440T>A (p.Thr480=) c.4649T>A (n.4649T>A) n.19T>A c.1179T>A (p.Thr393=) c.5-7097T>A (n.5-7097T>A) c.339T>A (p.Thr113=) c.-98-20858T>A (n.-98-20858T>A) n.5002T>A n.5043T>A	dbSNP
17	g.43071049G>A	CA10591795	BRCA1	c.4862C>T (p.Thr1621Ile) c.4865C>T (p.Thr1622Ile) c.4739C>T (p.Thr1580Ile) c.4859C>T (p.Thr1620Ile) c.4787C>T (p.Thr1596Ile) c.1553C>T (p.Thr518Ile) c.1415C>T (p.Thr472Ile) c.3977C>T (p.Thr1326Ile) c.4742C>T (p.Thr1581Ile) c.4931C>T (p.Thr1644Ile) c.4724C>T (p.Thr1575Ile) c.1427C>T (p.Thr476Ile) c.1472C>T (p.Thr491Ile) c.4928C>T (p.Thr1643Ile) c.1252C>T c.1439C>T (p.Thr480Ile) c.4648C>T (n.4648C>T) n.18C>T c.1178C>T (p.Thr393Ile) c.5-7098C>T (n.5-7098C>T) c.338C>T (p.Thr113Ile) c.-98-20859C>T (n.-98-20859C>T) n.5001C>T n.5042C>T	ClinVar dbSNP
17	g.43071049G>C	CA003057	BRCA1	c.4862C>G (p.Thr1621Ser) c.4865C>G (p.Thr1622Ser) c.4739C>G (p.Thr1580Ser) c.4859C>G (p.Thr1620Ser) c.4787C>G (p.Thr1596Ser) c.1553C>G (p.Thr518Ser) c.1415C>G (p.Thr472Ser) c.3977C>G (p.Thr1326Ser) c.4742C>G (p.Thr1581Ser) c.4931C>G (p.Thr1644Ser) c.4724C>G (p.Thr1575Ser) c.1427C>G (p.Thr476Ser) c.1472C>G (p.Thr491Ser) c.4928C>G (p.Thr1643Ser) c.1252C>G c.1439C>G (p.Thr480Ser) c.4648C>G (n.4648C>G) n.18C>G c.1178C>G (p.Thr393Ser) c.5-7098C>G (n.5-7098C>G) c.338C>G (p.Thr113Ser) c.-98-20859C>G (n.-98-20859C>G) n.5001C>G n.5042C>G	ClinVar dbSNP
17	g.43071049G=	CA2260772869	BRCA1	c.4862C= (p.Thr1621=) c.4865C= (p.Thr1622=) c.4739C= (p.Thr1580=) c.4859C= (p.Thr1620=) c.4787C= (p.Thr1596=) c.1553C= (p.Thr518=) c.1415C= (p.Thr472=) c.3977C= (p.Thr1326=) c.4742C= (p.Thr1581=) c.4931C= (p.Thr1644=) c.4724C= (p.Thr1575=) c.1427C= (p.Thr476=) c.1472C= (p.Thr491=) c.4928C= (p.Thr1643=) c.1252C= c.1439C= (p.Thr480=) c.4648C= (n.4648C=) n.18C= c.1178C= (p.Thr393=) c.5-7098C= (n.5-7098C=) c.338C= (p.Thr113=) c.-98-20859C= (n.-98-20859C=) n.5001C= n.5042C=
17	g.43071049G>T	CA10591796	BRCA1	c.4862C>A (p.Thr1621Asn) c.4865C>A (p.Thr1622Asn) c.4739C>A (p.Thr1580Asn) c.4859C>A (p.Thr1620Asn) c.4787C>A (p.Thr1596Asn) c.1553C>A (p.Thr518Asn) c.1415C>A (p.Thr472Asn) c.3977C>A (p.Thr1326Asn) c.4742C>A (p.Thr1581Asn) c.4931C>A (p.Thr1644Asn) c.4724C>A (p.Thr1575Asn) c.1427C>A (p.Thr476Asn) c.1472C>A (p.Thr491Asn) c.4928C>A (p.Thr1643Asn) c.1252C>A c.1439C>A (p.Thr480Asn) c.4648C>A (n.4648C>A) n.18C>A c.1178C>A (p.Thr393Asn) c.5-7098C>A (n.5-7098C>A) c.338C>A (p.Thr113Asn) c.-98-20859C>A (n.-98-20859C>A) n.5001C>A n.5042C>A
17	g.43071050T>A	CA10591797	BRCA1	c.4861A>T (p.Thr1621Ser) c.4864A>T (p.Thr1622Ser) c.4738A>T (p.Thr1580Ser) c.4858A>T (p.Thr1620Ser) c.4786A>T (p.Thr1596Ser) c.1552A>T (p.Thr518Ser) c.1414A>T (p.Thr472Ser) c.3976A>T (p.Thr1326Ser) c.4741A>T (p.Thr1581Ser) c.4930A>T (p.Thr1644Ser) c.4723A>T (p.Thr1575Ser) c.1426A>T (p.Thr476Ser) c.1471A>T (p.Thr491Ser) c.4927A>T (p.Thr1643Ser) c.1251A>T c.1438A>T (p.Thr480Ser) c.4647A>T (n.4647A>T) n.17A>T c.1177A>T (p.Thr393Ser) c.5-7099A>T (n.5-7099A>T) c.337A>T (p.Thr113Ser) c.-98-20860A>T (n.-98-20860A>T) n.5000A>T n.5041A>T	dbSNP
17	g.43071050T>C	CA003056	BRCA1	c.4861A>G (p.Thr1621Ala) c.4864A>G (p.Thr1622Ala) c.4738A>G (p.Thr1580Ala) c.4858A>G (p.Thr1620Ala) c.4786A>G (p.Thr1596Ala) c.1552A>G (p.Thr518Ala) c.1414A>G (p.Thr472Ala) c.3976A>G (p.Thr1326Ala) c.4741A>G (p.Thr1581Ala) c.4930A>G (p.Thr1644Ala) c.4723A>G (p.Thr1575Ala) c.1426A>G (p.Thr476Ala) c.1471A>G (p.Thr491Ala) c.4927A>G (p.Thr1643Ala) c.1251A>G c.1438A>G (p.Thr480Ala) c.4647A>G (n.4647A>G) n.17A>G c.1177A>G (p.Thr393Ala) c.5-7099A>G (n.5-7099A>G) c.337A>G (p.Thr113Ala) c.-98-20860A>G (n.-98-20860A>G) n.5000A>G n.5041A>G	ClinVar dbSNP
17	g.43071050T>G	CA10591798	BRCA1	c.4861A>C (p.Thr1621Pro) c.4864A>C (p.Thr1622Pro) c.4738A>C (p.Thr1580Pro) c.4858A>C (p.Thr1620Pro) c.4786A>C (p.Thr1596Pro) c.1552A>C (p.Thr518Pro) c.1414A>C (p.Thr472Pro) c.3976A>C (p.Thr1326Pro) c.4741A>C (p.Thr1581Pro) c.4930A>C (p.Thr1644Pro) c.4723A>C (p.Thr1575Pro) c.1426A>C (p.Thr476Pro) c.1471A>C (p.Thr491Pro) c.4927A>C (p.Thr1643Pro) c.1251A>C c.1438A>C (p.Thr480Pro) c.4647A>C (n.4647A>C) n.17A>C c.1177A>C (p.Thr393Pro) c.5-7099A>C (n.5-7099A>C) c.337A>C (p.Thr113Pro) c.-98-20860A>C (n.-98-20860A>C) n.5000A>C n.5041A>C
17	g.43071050T=	CA2260772870	BRCA1	c.4861A= (p.Thr1621=) c.4864A= (p.Thr1622=) c.4738A= (p.Thr1580=) c.4858A= (p.Thr1620=) c.4786A= (p.Thr1596=) c.1552A= (p.Thr518=) c.1414A= (p.Thr472=) c.3976A= (p.Thr1326=) c.4741A= (p.Thr1581=) c.4930A= (p.Thr1644=) c.4723A= (p.Thr1575=) c.1426A= (p.Thr476=) c.1471A= (p.Thr491=) c.4927A= (p.Thr1643=) c.1251A= c.1438A= (p.Thr480=) c.4647A= (n.4647A=) n.17A= c.1177A= (p.Thr393=) c.5-7099A= (n.5-7099A=) c.337A= (p.Thr113=) c.-98-20860A= (n.-98-20860A=) n.5000A= n.5041A=
17	g.43071051A>C	CA10591799	BRCA1	c.4860T>G (p.Asp1620Glu) c.4863T>G (p.Asp1621Glu) c.4737T>G (p.Asp1579Glu) c.4857T>G (p.Asp1619Glu) c.4785T>G (p.Asp1595Glu) c.1551T>G (p.Asp517Glu) c.1413T>G (p.Asp471Glu) c.3975T>G (p.Asp1325Glu) c.4740T>G (p.Asp1580Glu) c.4929T>G (p.Asp1643Glu) c.4722T>G (p.Asp1574Glu) c.1425T>G (p.Asp475Glu) c.1470T>G (p.Asp490Glu) c.4926T>G (p.Asp1642Glu) c.1250T>G c.1437T>G (p.Asp479Glu) c.4646T>G (n.4646T>G) n.16T>G c.1176T>G (p.Asp392Glu) c.5-7100T>G (n.5-7100T>G) c.336T>G (p.Asp112Glu) c.-98-20861T>G (n.-98-20861T>G) n.4999T>G n.5040T>G	dbSNP
17	g.43071051A>G	CA500231784	BRCA1	c.4860T>C (p.Asp1620=) c.4863T>C (p.Asp1621=) c.4737T>C (p.Asp1579=) c.4857T>C (p.Asp1619=) c.4785T>C (p.Asp1595=) c.1551T>C (p.Asp517=) c.1413T>C (p.Asp471=) c.3975T>C (p.Asp1325=) c.4740T>C (p.Asp1580=) c.4929T>C (p.Asp1643=) c.4722T>C (p.Asp1574=) c.1425T>C (p.Asp475=) c.1470T>C (p.Asp490=) c.4926T>C (p.Asp1642=) c.1250T>C c.1437T>C (p.Asp479=) c.4646T>C (n.4646T>C) n.16T>C c.1176T>C (p.Asp392=) c.5-7100T>C (n.5-7100T>C) c.336T>C (p.Asp112=) c.-98-20861T>C (n.-98-20861T>C) n.4999T>C n.5040T>C
17	g.43071051A>T	CA10591800	BRCA1	c.4860T>A (p.Asp1620Glu) c.4863T>A (p.Asp1621Glu) c.4737T>A (p.Asp1579Glu) c.4857T>A (p.Asp1619Glu) c.4785T>A (p.Asp1595Glu) c.1551T>A (p.Asp517Glu) c.1413T>A (p.Asp471Glu) c.3975T>A (p.Asp1325Glu) c.4740T>A (p.Asp1580Glu) c.4929T>A (p.Asp1643Glu) c.4722T>A (p.Asp1574Glu) c.1425T>A (p.Asp475Glu) c.1470T>A (p.Asp490Glu) c.4926T>A (p.Asp1642Glu) c.1250T>A c.1437T>A (p.Asp479Glu) c.4646T>A (n.4646T>A) n.16T>A c.1176T>A (p.Asp392Glu) c.5-7100T>A (n.5-7100T>A) c.336T>A (p.Asp112Glu) c.-98-20861T>A (n.-98-20861T>A) n.4999T>A n.5040T>A	dbSNP
17	g.43071051_43071052insC	CA2499224392	BRCA1	c.4859_4860insG (p.Asp1620GlufsTer6) c.4862_4863insG (p.Asp1621GlufsTer6) c.4736_4737insG (p.Asp1579GlufsTer6) c.4856_4857insG (p.Asp1619GlufsTer6) c.4784_4785insG (p.Asp1595GlufsTer6) c.1550_1551insG (p.Asp517GlufsTer6) c.1412_1413insG (p.Asp471GlufsTer6) c.3974_3975insG (p.Asp1325GlufsTer6) c.4739_4740insG (p.Asp1580GlufsTer6) c.4928_4929insG (p.Asp1643GlufsTer6) c.4721_4722insG (p.Asp1574GlufsTer6) c.1424_1425insG (p.Asp475GlufsTer6) c.1469_1470insG (p.Asp490GlufsTer6) c.4925_4926insG (p.Asp1642GlufsTer6) c.1249_1250insG c.1436_1437insG (p.Asp479GlufsTer6) c.4645_4646insG (n.4645_4646insG) n.15_16insG c.1175_1176insG (p.Asp392GlufsTer6) c.5-7101_5-7100insG (n.5-7101_5-7100insG) c.335_336insG (p.Asp112GlufsTer6) c.-98-20862_-98-20861insG (n.-98-20862_-98-20861insG) n.4998_4999insG n.5039_5040insG	ClinVar dbSNP
17	g.43071052del	CA2499224393	BRCA1	c.4859del (p.Asp1620ValfsTer12) c.4862del (p.Asp1621ValfsTer12) c.4736del (p.Asp1579ValfsTer12) c.4856del (p.Asp1619ValfsTer12) c.4784del (p.Asp1595ValfsTer12) c.1550del (p.Asp517ValfsTer12) c.1412del (p.Asp471ValfsTer12) c.3974del (p.Asp1325ValfsTer12) c.4739del (p.Asp1580ValfsTer12) c.4928del (p.Asp1643ValfsTer12) c.4721del (p.Asp1574ValfsTer12) c.1424del (p.Asp475ValfsTer12) c.1469del (p.Asp490ValfsTer12) c.4925del (p.Asp1642ValfsTer12) c.1249del c.1436del (p.Asp479ValfsTer12) c.4645del (n.4645del) n.15del c.1175del (p.Asp392ValfsTer12) c.5-7101del (n.5-7101del) c.335del (p.Asp112ValfsTer12) c.-98-20862del (n.-98-20862del) n.4998del n.5039del
17	g.43071052T>A	CA10591801	BRCA1	c.4859A>T (p.Asp1620Val) c.4862A>T (p.Asp1621Val) c.4736A>T (p.Asp1579Val) c.4856A>T (p.Asp1619Val) c.4784A>T (p.Asp1595Val) c.1550A>T (p.Asp517Val) c.1412A>T (p.Asp471Val) c.3974A>T (p.Asp1325Val) c.4739A>T (p.Asp1580Val) c.4928A>T (p.Asp1643Val) c.4721A>T (p.Asp1574Val) c.1424A>T (p.Asp475Val) c.1469A>T (p.Asp490Val) c.4925A>T (p.Asp1642Val) c.1249A>T c.1436A>T (p.Asp479Val) c.4645A>T (n.4645A>T) n.15A>T c.1175A>T (p.Asp392Val) c.5-7101A>T (n.5-7101A>T) c.335A>T (p.Asp112Val) c.-98-20862A>T (n.-98-20862A>T) n.4998A>T n.5039A>T	ClinVar dbSNP
17	g.43071052T>C	CA10591802	BRCA1	c.4859A>G (p.Asp1620Gly) c.4862A>G (p.Asp1621Gly) c.4736A>G (p.Asp1579Gly) c.4856A>G (p.Asp1619Gly) c.4784A>G (p.Asp1595Gly) c.1550A>G (p.Asp517Gly) c.1412A>G (p.Asp471Gly) c.3974A>G (p.Asp1325Gly) c.4739A>G (p.Asp1580Gly) c.4928A>G (p.Asp1643Gly) c.4721A>G (p.Asp1574Gly) c.1424A>G (p.Asp475Gly) c.1469A>G (p.Asp490Gly) c.4925A>G (p.Asp1642Gly) c.1249A>G c.1436A>G (p.Asp479Gly) c.4645A>G (n.4645A>G) n.15A>G c.1175A>G (p.Asp392Gly) c.5-7101A>G (n.5-7101A>G) c.335A>G (p.Asp112Gly) c.-98-20862A>G (n.-98-20862A>G) n.4998A>G n.5039A>G	ClinVar dbSNP
17	g.43071052T>G	CA10591803	BRCA1	c.4859A>C (p.Asp1620Ala) c.4862A>C (p.Asp1621Ala) c.4736A>C (p.Asp1579Ala) c.4856A>C (p.Asp1619Ala) c.4784A>C (p.Asp1595Ala) c.1550A>C (p.Asp517Ala) c.1412A>C (p.Asp471Ala) c.3974A>C (p.Asp1325Ala) c.4739A>C (p.Asp1580Ala) c.4928A>C (p.Asp1643Ala) c.4721A>C (p.Asp1574Ala) c.1424A>C (p.Asp475Ala) c.1469A>C (p.Asp490Ala) c.4925A>C (p.Asp1642Ala) c.1249A>C c.1436A>C (p.Asp479Ala) c.4645A>C (n.4645A>C) n.15A>C c.1175A>C (p.Asp392Ala) c.5-7101A>C (n.5-7101A>C) c.335A>C (p.Asp112Ala) c.-98-20862A>C (n.-98-20862A>C) n.4998A>C n.5039A>C	ClinVar dbSNP
17	g.43071052T=	CA2260772871	BRCA1	c.4859A= (p.Asp1620=) c.4862A= (p.Asp1621=) c.4736A= (p.Asp1579=) c.4856A= (p.Asp1619=) c.4784A= (p.Asp1595=) c.1550A= (p.Asp517=) c.1412A= (p.Asp471=) c.3974A= (p.Asp1325=) c.4739A= (p.Asp1580=) c.4928A= (p.Asp1643=) c.4721A= (p.Asp1574=) c.1424A= (p.Asp475=) c.1469A= (p.Asp490=) c.4925A= (p.Asp1642=) c.1249A= c.1436A= (p.Asp479=) c.4645A= (n.4645A=) n.15A= c.1175A= (p.Asp392=) c.5-7101A= (n.5-7101A=) c.335A= (p.Asp112=) c.-98-20862A= (n.-98-20862A=) n.4998A= n.5039A=
17	g.43071053C>A	CA10591804	BRCA1	c.4858G>T (p.Asp1620Tyr) c.4861G>T (p.Asp1621Tyr) c.4735G>T (p.Asp1579Tyr) c.4855G>T (p.Asp1619Tyr) c.4783G>T (p.Asp1595Tyr) c.1549G>T (p.Asp517Tyr) c.1411G>T (p.Asp471Tyr) c.3973G>T (p.Asp1325Tyr) c.4738G>T (p.Asp1580Tyr) c.4927G>T (p.Asp1643Tyr) c.4720G>T (p.Asp1574Tyr) c.1423G>T (p.Asp475Tyr) c.1468G>T (p.Asp490Tyr) c.4924G>T (p.Asp1642Tyr) c.1248G>T c.1435G>T (p.Asp479Tyr) c.4644G>T (n.4644G>T) n.14G>T c.1174G>T (p.Asp392Tyr) c.5-7102G>T (n.5-7102G>T) c.334G>T (p.Asp112Tyr) c.-98-20863G>T (n.-98-20863G>T) n.4997G>T n.5038G>T	dbSNP
17	g.43071053C>G	CA10591805	BRCA1	c.4858G>C (p.Asp1620His) c.4861G>C (p.Asp1621His) c.4735G>C (p.Asp1579His) c.4855G>C (p.Asp1619His) c.4783G>C (p.Asp1595His) c.1549G>C (p.Asp517His) c.1411G>C (p.Asp471His) c.3973G>C (p.Asp1325His) c.4738G>C (p.Asp1580His) c.4927G>C (p.Asp1643His) c.4720G>C (p.Asp1574His) c.1423G>C (p.Asp475His) c.1468G>C (p.Asp490His) c.4924G>C (p.Asp1642His) c.1248G>C c.1435G>C (p.Asp479His) c.4644G>C (n.4644G>C) n.14G>C c.1174G>C (p.Asp392His) c.5-7102G>C (n.5-7102G>C) c.334G>C (p.Asp112His) c.-98-20863G>C (n.-98-20863G>C) n.4997G>C n.5038G>C	dbSNP
17	g.43071053C>T	CA10591806	BRCA1	c.4858G>A (p.Asp1620Asn) c.4861G>A (p.Asp1621Asn) c.4735G>A (p.Asp1579Asn) c.4855G>A (p.Asp1619Asn) c.4783G>A (p.Asp1595Asn) c.1549G>A (p.Asp517Asn) c.1411G>A (p.Asp471Asn) c.3973G>A (p.Asp1325Asn) c.4738G>A (p.Asp1580Asn) c.4927G>A (p.Asp1643Asn) c.4720G>A (p.Asp1574Asn) c.1423G>A (p.Asp475Asn) c.1468G>A (p.Asp490Asn) c.4924G>A (p.Asp1642Asn) c.1248G>A c.1435G>A (p.Asp479Asn) c.4644G>A (n.4644G>A) n.14G>A c.1174G>A (p.Asp392Asn) c.5-7102G>A (n.5-7102G>A) c.334G>A (p.Asp112Asn) c.-98-20863G>A (n.-98-20863G>A) n.4997G>A n.5038G>A	dbSNP
17	g.43071054A=	CA2260772872	BRCA1	c.4857T= (p.Thr1619=) c.4860T= (p.Thr1620=) c.4734T= (p.Thr1578=) c.4854T= (p.Thr1618=) c.4782T= (p.Thr1594=) c.1548T= (p.Thr516=) c.1410T= (p.Thr470=) c.3972T= (p.Thr1324=) c.4737T= (p.Thr1579=) c.4926T= (p.Thr1642=) c.4719T= (p.Thr1573=) c.1422T= (p.Thr474=) c.1467T= (p.Thr489=) c.4923T= (p.Thr1641=) c.1247T= c.1434T= (p.Thr478=) c.4643T= (n.4643T=) n.13T= c.1173T= (p.Thr391=) c.5-7103T= (n.5-7103T=) c.333T= (p.Thr111=) c.-98-20864T= (n.-98-20864T=) n.4996T= n.5037T=
17	g.43071054A>C	CA500231787	BRCA1	c.4857T>G (p.Thr1619=) c.4860T>G (p.Thr1620=) c.4734T>G (p.Thr1578=) c.4854T>G (p.Thr1618=) c.4782T>G (p.Thr1594=) c.1548T>G (p.Thr516=) c.1410T>G (p.Thr470=) c.3972T>G (p.Thr1324=) c.4737T>G (p.Thr1579=) c.4926T>G (p.Thr1642=) c.4719T>G (p.Thr1573=) c.1422T>G (p.Thr474=) c.1467T>G (p.Thr489=) c.4923T>G (p.Thr1641=) c.1247T>G c.1434T>G (p.Thr478=) c.4643T>G (n.4643T>G) n.13T>G c.1173T>G (p.Thr391=) c.5-7103T>G (n.5-7103T>G) c.333T>G (p.Thr111=) c.-98-20864T>G (n.-98-20864T>G) n.4996T>G n.5037T>G
17	g.43071054A>G	CA053379	BRCA1	c.4857T>C (p.Thr1619=) c.4860T>C (p.Thr1620=) c.4734T>C (p.Thr1578=) c.4854T>C (p.Thr1618=) c.4782T>C (p.Thr1594=) c.1548T>C (p.Thr516=) c.1410T>C (p.Thr470=) c.3972T>C (p.Thr1324=) c.4737T>C (p.Thr1579=) c.4926T>C (p.Thr1642=) c.4719T>C (p.Thr1573=) c.1422T>C (p.Thr474=) c.1467T>C (p.Thr489=) c.4923T>C (p.Thr1641=) c.1247T>C c.1434T>C (p.Thr478=) c.4643T>C (n.4643T>C) n.13T>C c.1173T>C (p.Thr391=) c.5-7103T>C (n.5-7103T>C) c.333T>C (p.Thr111=) c.-98-20864T>C (n.-98-20864T>C) n.4996T>C n.5037T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071054A>T	CA500231786	BRCA1	c.4857T>A (p.Thr1619=) c.4860T>A (p.Thr1620=) c.4734T>A (p.Thr1578=) c.4854T>A (p.Thr1618=) c.4782T>A (p.Thr1594=) c.1548T>A (p.Thr516=) c.1410T>A (p.Thr470=) c.3972T>A (p.Thr1324=) c.4737T>A (p.Thr1579=) c.4926T>A (p.Thr1642=) c.4719T>A (p.Thr1573=) c.1422T>A (p.Thr474=) c.1467T>A (p.Thr489=) c.4923T>A (p.Thr1641=) c.1247T>A c.1434T>A (p.Thr478=) c.4643T>A (n.4643T>A) n.13T>A c.1173T>A (p.Thr391=) c.5-7103T>A (n.5-7103T>A) c.333T>A (p.Thr111=) c.-98-20864T>A (n.-98-20864T>A) n.4996T>A n.5037T>A	dbSNP
17	g.43071055G>A	CA10591807	BRCA1	c.4856C>T (p.Thr1619Ile) c.4859C>T (p.Thr1620Ile) c.4733C>T (p.Thr1578Ile) c.4853C>T (p.Thr1618Ile) c.4781C>T (p.Thr1594Ile) c.1547C>T (p.Thr516Ile) c.1409C>T (p.Thr470Ile) c.3971C>T (p.Thr1324Ile) c.4736C>T (p.Thr1579Ile) c.4925C>T (p.Thr1642Ile) c.4718C>T (p.Thr1573Ile) c.1421C>T (p.Thr474Ile) c.1466C>T (p.Thr489Ile) c.4922C>T (p.Thr1641Ile) c.1246C>T c.1433C>T (p.Thr478Ile) c.4642C>T (n.4642C>T) n.12C>T c.1172C>T (p.Thr391Ile) c.5-7104C>T (n.5-7104C>T) c.332C>T (p.Thr111Ile) c.-98-20865C>T (n.-98-20865C>T) n.4995C>T n.5036C>T	ClinVar dbSNP
17	g.43071055G>C	CA10591808	BRCA1	c.4856C>G (p.Thr1619Ser) c.4859C>G (p.Thr1620Ser) c.4733C>G (p.Thr1578Ser) c.4853C>G (p.Thr1618Ser) c.4781C>G (p.Thr1594Ser) c.1547C>G (p.Thr516Ser) c.1409C>G (p.Thr470Ser) c.3971C>G (p.Thr1324Ser) c.4736C>G (p.Thr1579Ser) c.4925C>G (p.Thr1642Ser) c.4718C>G (p.Thr1573Ser) c.1421C>G (p.Thr474Ser) c.1466C>G (p.Thr489Ser) c.4922C>G (p.Thr1641Ser) c.1246C>G c.1433C>G (p.Thr478Ser) c.4642C>G (n.4642C>G) n.12C>G c.1172C>G (p.Thr391Ser) c.5-7104C>G (n.5-7104C>G) c.332C>G (p.Thr111Ser) c.-98-20865C>G (n.-98-20865C>G) n.4995C>G n.5036C>G	dbSNP
17	g.43071055G>T	CA10591809	BRCA1	c.4856C>A (p.Thr1619Asn) c.4859C>A (p.Thr1620Asn) c.4733C>A (p.Thr1578Asn) c.4853C>A (p.Thr1618Asn) c.4781C>A (p.Thr1594Asn) c.1547C>A (p.Thr516Asn) c.1409C>A (p.Thr470Asn) c.3971C>A (p.Thr1324Asn) c.4736C>A (p.Thr1579Asn) c.4925C>A (p.Thr1642Asn) c.4718C>A (p.Thr1573Asn) c.1421C>A (p.Thr474Asn) c.1466C>A (p.Thr489Asn) c.4922C>A (p.Thr1641Asn) c.1246C>A c.1433C>A (p.Thr478Asn) c.4642C>A (n.4642C>A) n.12C>A c.1172C>A (p.Thr391Asn) c.5-7104C>A (n.5-7104C>A) c.332C>A (p.Thr111Asn) c.-98-20865C>A (n.-98-20865C>A) n.4995C>A n.5036C>A
17	g.43071056T>A	CA10591810	BRCA1	c.4855A>T (p.Thr1619Ser) c.4858A>T (p.Thr1620Ser) c.4732A>T (p.Thr1578Ser) c.4852A>T (p.Thr1618Ser) c.4780A>T (p.Thr1594Ser) c.1546A>T (p.Thr516Ser) c.1408A>T (p.Thr470Ser) c.3970A>T (p.Thr1324Ser) c.4735A>T (p.Thr1579Ser) c.4924A>T (p.Thr1642Ser) c.4717A>T (p.Thr1573Ser) c.1420A>T (p.Thr474Ser) c.1465A>T (p.Thr489Ser) c.4921A>T (p.Thr1641Ser) c.1245A>T c.1432A>T (p.Thr478Ser) c.4641A>T (n.4641A>T) n.11A>T c.1171A>T (p.Thr391Ser) c.5-7105A>T (n.5-7105A>T) c.331A>T (p.Thr111Ser) c.-98-20866A>T (n.-98-20866A>T) n.4994A>T n.5035A>T	dbSNP
17	g.43071056T>C	CA003055	BRCA1	c.4855A>G (p.Thr1619Ala) c.4858A>G (p.Thr1620Ala) c.4732A>G (p.Thr1578Ala) c.4852A>G (p.Thr1618Ala) c.4780A>G (p.Thr1594Ala) c.1546A>G (p.Thr516Ala) c.1408A>G (p.Thr470Ala) c.3970A>G (p.Thr1324Ala) c.4735A>G (p.Thr1579Ala) c.4924A>G (p.Thr1642Ala) c.4717A>G (p.Thr1573Ala) c.1420A>G (p.Thr474Ala) c.1465A>G (p.Thr489Ala) c.4921A>G (p.Thr1641Ala) c.1245A>G c.1432A>G (p.Thr478Ala) c.4641A>G (n.4641A>G) n.11A>G c.1171A>G (p.Thr391Ala) c.5-7105A>G (n.5-7105A>G) c.331A>G (p.Thr111Ala) c.-98-20866A>G (n.-98-20866A>G) n.4994A>G n.5035A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.43071056T>G	CA10591811	BRCA1	c.4855A>C (p.Thr1619Pro) c.4858A>C (p.Thr1620Pro) c.4732A>C (p.Thr1578Pro) c.4852A>C (p.Thr1618Pro) c.4780A>C (p.Thr1594Pro) c.1546A>C (p.Thr516Pro) c.1408A>C (p.Thr470Pro) c.3970A>C (p.Thr1324Pro) c.4735A>C (p.Thr1579Pro) c.4924A>C (p.Thr1642Pro) c.4717A>C (p.Thr1573Pro) c.1420A>C (p.Thr474Pro) c.1465A>C (p.Thr489Pro) c.4921A>C (p.Thr1641Pro) c.1245A>C c.1432A>C (p.Thr478Pro) c.4641A>C (n.4641A>C) n.11A>C c.1171A>C (p.Thr391Pro) c.5-7105A>C (n.5-7105A>C) c.331A>C (p.Thr111Pro) c.-98-20866A>C (n.-98-20866A>C) n.4994A>C n.5035A>C
17	g.43071056T=	CA2260772873	BRCA1	c.4855A= (p.Thr1619=) c.4858A= (p.Thr1620=) c.4732A= (p.Thr1578=) c.4852A= (p.Thr1618=) c.4780A= (p.Thr1594=) c.1546A= (p.Thr516=) c.1408A= (p.Thr470=) c.3970A= (p.Thr1324=) c.4735A= (p.Thr1579=) c.4924A= (p.Thr1642=) c.4717A= (p.Thr1573=) c.1420A= (p.Thr474=) c.1465A= (p.Thr489=) c.4921A= (p.Thr1641=) c.1245A= c.1432A= (p.Thr478=) c.4641A= (n.4641A=) n.11A= c.1171A= (p.Thr391=) c.5-7105A= (n.5-7105A=) c.331A= (p.Thr111=) c.-98-20866A= (n.-98-20866A=) n.4994A= n.5035A=
17	g.43071057A>C	CA500231789	BRCA1	c.4854T>G (p.Thr1618=) c.4857T>G (p.Thr1619=) c.4731T>G (p.Thr1577=) c.4851T>G (p.Thr1617=) c.4779T>G (p.Thr1593=) c.1545T>G (p.Thr515=) c.1407T>G (p.Thr469=) c.3969T>G (p.Thr1323=) c.4734T>G (p.Thr1578=) c.4923T>G (p.Thr1641=) c.4716T>G (p.Thr1572=) c.1419T>G (p.Thr473=) c.1464T>G (p.Thr488=) c.4920T>G (p.Thr1640=) c.1244T>G c.1431T>G (p.Thr477=) c.4640T>G (n.4640T>G) n.10T>G c.1170T>G (p.Thr390=) c.5-7106T>G (n.5-7106T>G) c.330T>G (p.Thr110=) c.-98-20867T>G (n.-98-20867T>G) n.4993T>G n.5034T>G
17	g.43071057A>G	CA500231790	BRCA1	c.4854T>C (p.Thr1618=) c.4857T>C (p.Thr1619=) c.4731T>C (p.Thr1577=) c.4851T>C (p.Thr1617=) c.4779T>C (p.Thr1593=) c.1545T>C (p.Thr515=) c.1407T>C (p.Thr469=) c.3969T>C (p.Thr1323=) c.4734T>C (p.Thr1578=) c.4923T>C (p.Thr1641=) c.4716T>C (p.Thr1572=) c.1419T>C (p.Thr473=) c.1464T>C (p.Thr488=) c.4920T>C (p.Thr1640=) c.1244T>C c.1431T>C (p.Thr477=) c.4640T>C (n.4640T>C) n.10T>C c.1170T>C (p.Thr390=) c.5-7106T>C (n.5-7106T>C) c.330T>C (p.Thr110=) c.-98-20867T>C (n.-98-20867T>C) n.4993T>C n.5034T>C	dbSNP
17	g.43071057A>T	CA500231791	BRCA1	c.4854T>A (p.Thr1618=) c.4857T>A (p.Thr1619=) c.4731T>A (p.Thr1577=) c.4851T>A (p.Thr1617=) c.4779T>A (p.Thr1593=) c.1545T>A (p.Thr515=) c.1407T>A (p.Thr469=) c.3969T>A (p.Thr1323=) c.4734T>A (p.Thr1578=) c.4923T>A (p.Thr1641=) c.4716T>A (p.Thr1572=) c.1419T>A (p.Thr473=) c.1464T>A (p.Thr488=) c.4920T>A (p.Thr1640=) c.1244T>A c.1431T>A (p.Thr477=) c.4640T>A (n.4640T>A) n.10T>A c.1170T>A (p.Thr390=) c.5-7106T>A (n.5-7106T>A) c.330T>A (p.Thr110=) c.-98-20867T>A (n.-98-20867T>A) n.4993T>A n.5034T>A	dbSNP
17	g.43071058G>A	CA10580507	BRCA1	c.4853C>T (p.Thr1618Ile) c.4856C>T (p.Thr1619Ile) c.4730C>T (p.Thr1577Ile) c.4850C>T (p.Thr1617Ile) c.4778C>T (p.Thr1593Ile) c.1544C>T (p.Thr515Ile) c.1406C>T (p.Thr469Ile) c.3968C>T (p.Thr1323Ile) c.4733C>T (p.Thr1578Ile) c.4922C>T (p.Thr1641Ile) c.4715C>T (p.Thr1572Ile) c.1418C>T (p.Thr473Ile) c.1463C>T (p.Thr488Ile) c.4919C>T (p.Thr1640Ile) c.1243C>T c.1430C>T (p.Thr477Ile) c.4639C>T (n.4639C>T) n.9C>T c.1169C>T (p.Thr390Ile) c.5-7107C>T (n.5-7107C>T) c.329C>T (p.Thr110Ile) c.-98-20868C>T (n.-98-20868C>T) n.4992C>T n.5033C>T	ClinVar dbSNP
17	g.43071058G>C	CA10591812	BRCA1	c.4853C>G (p.Thr1618Ser) c.4856C>G (p.Thr1619Ser) c.4730C>G (p.Thr1577Ser) c.4850C>G (p.Thr1617Ser) c.4778C>G (p.Thr1593Ser) c.1544C>G (p.Thr515Ser) c.1406C>G (p.Thr469Ser) c.3968C>G (p.Thr1323Ser) c.4733C>G (p.Thr1578Ser) c.4922C>G (p.Thr1641Ser) c.4715C>G (p.Thr1572Ser) c.1418C>G (p.Thr473Ser) c.1463C>G (p.Thr488Ser) c.4919C>G (p.Thr1640Ser) c.1243C>G c.1430C>G (p.Thr477Ser) c.4639C>G (n.4639C>G) n.9C>G c.1169C>G (p.Thr390Ser) c.5-7107C>G (n.5-7107C>G) c.329C>G (p.Thr110Ser) c.-98-20868C>G (n.-98-20868C>G) n.4992C>G n.5033C>G	dbSNP
17	g.43071058G=	CA2260772874	BRCA1	c.4853C= (p.Thr1618=) c.4856C= (p.Thr1619=) c.4730C= (p.Thr1577=) c.4850C= (p.Thr1617=) c.4778C= (p.Thr1593=) c.1544C= (p.Thr515=) c.1406C= (p.Thr469=) c.3968C= (p.Thr1323=) c.4733C= (p.Thr1578=) c.4922C= (p.Thr1641=) c.4715C= (p.Thr1572=) c.1418C= (p.Thr473=) c.1463C= (p.Thr488=) c.4919C= (p.Thr1640=) c.1243C= c.1430C= (p.Thr477=) c.4639C= (n.4639C=) n.9C= c.1169C= (p.Thr390=) c.5-7107C= (n.5-7107C=) c.329C= (p.Thr110=) c.-98-20868C= (n.-98-20868C=) n.4992C= n.5033C=
17	g.43071058G>T	CA10591813	BRCA1	c.4853C>A (p.Thr1618Asn) c.4856C>A (p.Thr1619Asn) c.4730C>A (p.Thr1577Asn) c.4850C>A (p.Thr1617Asn) c.4778C>A (p.Thr1593Asn) c.1544C>A (p.Thr515Asn) c.1406C>A (p.Thr469Asn) c.3968C>A (p.Thr1323Asn) c.4733C>A (p.Thr1578Asn) c.4922C>A (p.Thr1641Asn) c.4715C>A (p.Thr1572Asn) c.1418C>A (p.Thr473Asn) c.1463C>A (p.Thr488Asn) c.4919C>A (p.Thr1640Asn) c.1243C>A c.1430C>A (p.Thr477Asn) c.4639C>A (n.4639C>A) n.9C>A c.1169C>A (p.Thr390Asn) c.5-7107C>A (n.5-7107C>A) c.329C>A (p.Thr110Asn) c.-98-20868C>A (n.-98-20868C>A) n.4992C>A n.5033C>A
17	g.43071059T>A	CA10591814	BRCA1	c.4852A>T (p.Thr1618Ser) c.4855A>T (p.Thr1619Ser) c.4729A>T (p.Thr1577Ser) c.4849A>T (p.Thr1617Ser) c.4777A>T (p.Thr1593Ser) c.1543A>T (p.Thr515Ser) c.1405A>T (p.Thr469Ser) c.3967A>T (p.Thr1323Ser) c.4732A>T (p.Thr1578Ser) c.4921A>T (p.Thr1641Ser) c.4714A>T (p.Thr1572Ser) c.1417A>T (p.Thr473Ser) c.1462A>T (p.Thr488Ser) c.4918A>T (p.Thr1640Ser) c.1242A>T c.1429A>T (p.Thr477Ser) c.4638A>T (n.4638A>T) n.8A>T c.1168A>T (p.Thr390Ser) c.5-7108A>T (n.5-7108A>T) c.328A>T (p.Thr110Ser) c.-98-20869A>T (n.-98-20869A>T) n.4991A>T n.5032A>T	dbSNP COSMIC COSMIC
17	g.43071059T>C	CA10591815	BRCA1	c.4852A>G (p.Thr1618Ala) c.4855A>G (p.Thr1619Ala) c.4729A>G (p.Thr1577Ala) c.4849A>G (p.Thr1617Ala) c.4777A>G (p.Thr1593Ala) c.1543A>G (p.Thr515Ala) c.1405A>G (p.Thr469Ala) c.3967A>G (p.Thr1323Ala) c.4732A>G (p.Thr1578Ala) c.4921A>G (p.Thr1641Ala) c.4714A>G (p.Thr1572Ala) c.1417A>G (p.Thr473Ala) c.1462A>G (p.Thr488Ala) c.4918A>G (p.Thr1640Ala) c.1242A>G c.1429A>G (p.Thr477Ala) c.4638A>G (n.4638A>G) n.8A>G c.1168A>G (p.Thr390Ala) c.5-7108A>G (n.5-7108A>G) c.328A>G (p.Thr110Ala) c.-98-20869A>G (n.-98-20869A>G) n.4991A>G n.5032A>G	ClinVar dbSNP gnomAD v4
17	g.43071059T>G	CA10591816	BRCA1	c.4852A>C (p.Thr1618Pro) c.4855A>C (p.Thr1619Pro) c.4729A>C (p.Thr1577Pro) c.4849A>C (p.Thr1617Pro) c.4777A>C (p.Thr1593Pro) c.1543A>C (p.Thr515Pro) c.1405A>C (p.Thr469Pro) c.3967A>C (p.Thr1323Pro) c.4732A>C (p.Thr1578Pro) c.4921A>C (p.Thr1641Pro) c.4714A>C (p.Thr1572Pro) c.1417A>C (p.Thr473Pro) c.1462A>C (p.Thr488Pro) c.4918A>C (p.Thr1640Pro) c.1242A>C c.1429A>C (p.Thr477Pro) c.4638A>C (n.4638A>C) n.8A>C c.1168A>C (p.Thr390Pro) c.5-7108A>C (n.5-7108A>C) c.328A>C (p.Thr110Pro) c.-98-20869A>C (n.-98-20869A>C) n.4991A>C n.5032A>C
17	g.43071060A=	CA2260772875	BRCA1	c.4851T= (p.His1617=) c.4854T= (p.His1618=) c.4728T= (p.His1576=) c.4848T= (p.His1616=) c.4776T= (p.His1592=) c.1542T= (p.His514=) c.1404T= (p.His468=) c.3966T= (p.His1322=) c.4731T= (p.His1577=) c.4920T= (p.His1640=) c.4713T= (p.His1571=) c.1416T= (p.His472=) c.1461T= (p.His487=) c.4917T= (p.His1639=) c.1241T= c.1428T= (p.His476=) c.4637T= (n.4637T=) n.7T= c.1167T= (p.His389=) c.5-7109T= (n.5-7109T=) c.327T= (p.His109=) c.-98-20870T= (n.-98-20870T=) n.4990T= n.5031T=
17	g.43071060A>C	CA10591817	BRCA1	c.4851T>G (p.His1617Gln) c.4854T>G (p.His1618Gln) c.4728T>G (p.His1576Gln) c.4848T>G (p.His1616Gln) c.4776T>G (p.His1592Gln) c.1542T>G (p.His514Gln) c.1404T>G (p.His468Gln) c.3966T>G (p.His1322Gln) c.4731T>G (p.His1577Gln) c.4920T>G (p.His1640Gln) c.4713T>G (p.His1571Gln) c.1416T>G (p.His472Gln) c.1461T>G (p.His487Gln) c.4917T>G (p.His1639Gln) c.1241T>G c.1428T>G (p.His476Gln) c.4637T>G (n.4637T>G) n.7T>G c.1167T>G (p.His389Gln) c.5-7109T>G (n.5-7109T>G) c.327T>G (p.His109Gln) c.-98-20870T>G (n.-98-20870T>G) n.4990T>G n.5031T>G
17	g.43071060A>G	CA053368	BRCA1	c.4851T>C (p.His1617=) c.4854T>C (p.His1618=) c.4728T>C (p.His1576=) c.4848T>C (p.His1616=) c.4776T>C (p.His1592=) c.1542T>C (p.His514=) c.1404T>C (p.His468=) c.3966T>C (p.His1322=) c.4731T>C (p.His1577=) c.4920T>C (p.His1640=) c.4713T>C (p.His1571=) c.1416T>C (p.His472=) c.1461T>C (p.His487=) c.4917T>C (p.His1639=) c.1241T>C c.1428T>C (p.His476=) c.4637T>C (n.4637T>C) n.7T>C c.1167T>C (p.His389=) c.5-7109T>C (n.5-7109T>C) c.327T>C (p.His109=) c.-98-20870T>C (n.-98-20870T>C) n.4990T>C n.5031T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071060A>T	CA10591818	BRCA1	c.4851T>A (p.His1617Gln) c.4854T>A (p.His1618Gln) c.4728T>A (p.His1576Gln) c.4848T>A (p.His1616Gln) c.4776T>A (p.His1592Gln) c.1542T>A (p.His514Gln) c.1404T>A (p.His468Gln) c.3966T>A (p.His1322Gln) c.4731T>A (p.His1577Gln) c.4920T>A (p.His1640Gln) c.4713T>A (p.His1571Gln) c.1416T>A (p.His472Gln) c.1461T>A (p.His487Gln) c.4917T>A (p.His1639Gln) c.1241T>A c.1428T>A (p.His476Gln) c.4637T>A (n.4637T>A) n.7T>A c.1167T>A (p.His389Gln) c.5-7109T>A (n.5-7109T>A) c.327T>A (p.His109Gln) c.-98-20870T>A (n.-98-20870T>A) n.4990T>A n.5031T>A	dbSNP gnomAD v4
17	g.43071061T>A	CA10591819	BRCA1	c.4850A>T (p.His1617Leu) c.4853A>T (p.His1618Leu) c.4727A>T (p.His1576Leu) c.4847A>T (p.His1616Leu) c.4775A>T (p.His1592Leu) c.1541A>T (p.His514Leu) c.1403A>T (p.His468Leu) c.3965A>T (p.His1322Leu) c.4730A>T (p.His1577Leu) c.4919A>T (p.His1640Leu) c.4712A>T (p.His1571Leu) c.1415A>T (p.His472Leu) c.1460A>T (p.His487Leu) c.4916A>T (p.His1639Leu) c.1240A>T c.1427A>T (p.His476Leu) c.4636A>T (n.4636A>T) n.6A>T c.1166A>T (p.His389Leu) c.5-7110A>T (n.5-7110A>T) c.326A>T (p.His109Leu) c.-98-20871A>T (n.-98-20871A>T) n.4989A>T n.5030A>T	dbSNP
17	g.43071061T>C	CA10591820	BRCA1	c.4850A>G (p.His1617Arg) c.4853A>G (p.His1618Arg) c.4727A>G (p.His1576Arg) c.4847A>G (p.His1616Arg) c.4775A>G (p.His1592Arg) c.1541A>G (p.His514Arg) c.1403A>G (p.His468Arg) c.3965A>G (p.His1322Arg) c.4730A>G (p.His1577Arg) c.4919A>G (p.His1640Arg) c.4712A>G (p.His1571Arg) c.1415A>G (p.His472Arg) c.1460A>G (p.His487Arg) c.4916A>G (p.His1639Arg) c.1240A>G c.1427A>G (p.His476Arg) c.4636A>G (n.4636A>G) n.6A>G c.1166A>G (p.His389Arg) c.5-7110A>G (n.5-7110A>G) c.326A>G (p.His109Arg) c.-98-20871A>G (n.-98-20871A>G) n.4989A>G n.5030A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.43071061T>G	CA10591821	BRCA1	c.4850A>C (p.His1617Pro) c.4853A>C (p.His1618Pro) c.4727A>C (p.His1576Pro) c.4847A>C (p.His1616Pro) c.4775A>C (p.His1592Pro) c.1541A>C (p.His514Pro) c.1403A>C (p.His468Pro) c.3965A>C (p.His1322Pro) c.4730A>C (p.His1577Pro) c.4919A>C (p.His1640Pro) c.4712A>C (p.His1571Pro) c.1415A>C (p.His472Pro) c.1460A>C (p.His487Pro) c.4916A>C (p.His1639Pro) c.1240A>C c.1427A>C (p.His476Pro) c.4636A>C (n.4636A>C) n.6A>C c.1166A>C (p.His389Pro) c.5-7110A>C (n.5-7110A>C) c.326A>C (p.His109Pro) c.-98-20871A>C (n.-98-20871A>C) n.4989A>C n.5030A>C
17	g.43071061T=	CA2260772876	BRCA1	c.4850A= (p.His1617=) c.4853A= (p.His1618=) c.4727A= (p.His1576=) c.4847A= (p.His1616=) c.4775A= (p.His1592=) c.1541A= (p.His514=) c.1403A= (p.His468=) c.3965A= (p.His1322=) c.4730A= (p.His1577=) c.4919A= (p.His1640=) c.4712A= (p.His1571=) c.1415A= (p.His472=) c.1460A= (p.His487=) c.4916A= (p.His1639=) c.1240A= c.1427A= (p.His476=) c.4636A= (n.4636A=) n.6A= c.1166A= (p.His389=) c.5-7110A= (n.5-7110A=) c.326A= (p.His109=) c.-98-20871A= (n.-98-20871A=) n.4989A= n.5030A=
17	g.43071062G>A	CA053358	BRCA1	c.4849C>T (p.His1617Tyr) c.4852C>T (p.His1618Tyr) c.4726C>T (p.His1576Tyr) c.4846C>T (p.His1616Tyr) c.4774C>T (p.His1592Tyr) c.1540C>T (p.His514Tyr) c.1402C>T (p.His468Tyr) c.3964C>T (p.His1322Tyr) c.4729C>T (p.His1577Tyr) c.4918C>T (p.His1640Tyr) c.4711C>T (p.His1571Tyr) c.1414C>T (p.His472Tyr) c.1459C>T (p.His487Tyr) c.4915C>T (p.His1639Tyr) c.1239C>T c.1426C>T (p.His476Tyr) c.4635C>T (n.4635C>T) n.5C>T c.1165C>T (p.His389Tyr) c.5-7111C>T (n.5-7111C>T) c.325C>T (p.His109Tyr) c.-98-20872C>T (n.-98-20872C>T) n.4988C>T n.5029C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071062G>C	CA10591822	BRCA1	c.4849C>G (p.His1617Asp) c.4852C>G (p.His1618Asp) c.4726C>G (p.His1576Asp) c.4846C>G (p.His1616Asp) c.4774C>G (p.His1592Asp) c.1540C>G (p.His514Asp) c.1402C>G (p.His468Asp) c.3964C>G (p.His1322Asp) c.4729C>G (p.His1577Asp) c.4918C>G (p.His1640Asp) c.4711C>G (p.His1571Asp) c.1414C>G (p.His472Asp) c.1459C>G (p.His487Asp) c.4915C>G (p.His1639Asp) c.1239C>G c.1426C>G (p.His476Asp) c.4635C>G (n.4635C>G) n.5C>G c.1165C>G (p.His389Asp) c.5-7111C>G (n.5-7111C>G) c.325C>G (p.His109Asp) c.-98-20872C>G (n.-98-20872C>G) n.4988C>G n.5029C>G	dbSNP
17	g.43071062G=	CA2260772877	BRCA1	c.4849C= (p.His1617=) c.4852C= (p.His1618=) c.4726C= (p.His1576=) c.4846C= (p.His1616=) c.4774C= (p.His1592=) c.1540C= (p.His514=) c.1402C= (p.His468=) c.3964C= (p.His1322=) c.4729C= (p.His1577=) c.4918C= (p.His1640=) c.4711C= (p.His1571=) c.1414C= (p.His472=) c.1459C= (p.His487=) c.4915C= (p.His1639=) c.1239C= c.1426C= (p.His476=) c.4635C= (n.4635C=) n.5C= c.1165C= (p.His389=) c.5-7111C= (n.5-7111C=) c.325C= (p.His109=) c.-98-20872C= (n.-98-20872C=) n.4988C= n.5029C=
17	g.43071062G>T	CA10584552	BRCA1	c.4849C>A (p.His1617Asn) c.4852C>A (p.His1618Asn) c.4726C>A (p.His1576Asn) c.4846C>A (p.His1616Asn) c.4774C>A (p.His1592Asn) c.1540C>A (p.His514Asn) c.1402C>A (p.His468Asn) c.3964C>A (p.His1322Asn) c.4729C>A (p.His1577Asn) c.4918C>A (p.His1640Asn) c.4711C>A (p.His1571Asn) c.1414C>A (p.His472Asn) c.1459C>A (p.His487Asn) c.4915C>A (p.His1639Asn) c.1239C>A c.1426C>A (p.His476Asn) c.4635C>A (n.4635C>A) n.5C>A c.1165C>A (p.His389Asn) c.5-7111C>A (n.5-7111C>A) c.325C>A (p.His109Asn) c.-98-20872C>A (n.-98-20872C>A) n.4988C>A n.5029C>A	ClinVar dbSNP
17	g.43071063A=	CA2260772878	BRCA1	c.4848T= (p.Ala1616=) c.4851T= (p.Ala1617=) c.4725T= (p.Ala1575=) c.4845T= (p.Ala1615=) c.4773T= (p.Ala1591=) c.1539T= (p.Ala513=) c.1401T= (p.Ala467=) c.3963T= (p.Ala1321=) c.4728T= (p.Ala1576=) c.4917T= (p.Ala1639=) c.4710T= (p.Ala1570=) c.1413T= (p.Ala471=) c.1458T= (p.Ala486=) c.4914T= (p.Ala1638=) c.1238T= c.1425T= (p.Ala475=) c.4634T= (n.4634T=) n.4T= c.1164T= (p.Ala388=) c.5-7112T= (n.5-7112T=) c.324T= (p.Ala108=) c.-98-20873T= (n.-98-20873T=) n.4987T= n.5028T=
17	g.43071063A>C	CA500231793	BRCA1	c.4848T>G (p.Ala1616=) c.4851T>G (p.Ala1617=) c.4725T>G (p.Ala1575=) c.4845T>G (p.Ala1615=) c.4773T>G (p.Ala1591=) c.1539T>G (p.Ala513=) c.1401T>G (p.Ala467=) c.3963T>G (p.Ala1321=) c.4728T>G (p.Ala1576=) c.4917T>G (p.Ala1639=) c.4710T>G (p.Ala1570=) c.1413T>G (p.Ala471=) c.1458T>G (p.Ala486=) c.4914T>G (p.Ala1638=) c.1238T>G c.1425T>G (p.Ala475=) c.4634T>G (n.4634T>G) n.4T>G c.1164T>G (p.Ala388=) c.5-7112T>G (n.5-7112T>G) c.324T>G (p.Ala108=) c.-98-20873T>G (n.-98-20873T>G) n.4987T>G n.5028T>G
17	g.43071063A>G	CA003053	BRCA1	c.4848T>C (p.Ala1616=) c.4851T>C (p.Ala1617=) c.4725T>C (p.Ala1575=) c.4845T>C (p.Ala1615=) c.4773T>C (p.Ala1591=) c.1539T>C (p.Ala513=) c.1401T>C (p.Ala467=) c.3963T>C (p.Ala1321=) c.4728T>C (p.Ala1576=) c.4917T>C (p.Ala1639=) c.4710T>C (p.Ala1570=) c.1413T>C (p.Ala471=) c.1458T>C (p.Ala486=) c.4914T>C (p.Ala1638=) c.1238T>C c.1425T>C (p.Ala475=) c.4634T>C (n.4634T>C) n.4T>C c.1164T>C (p.Ala388=) c.5-7112T>C (n.5-7112T>C) c.324T>C (p.Ala108=) c.-98-20873T>C (n.-98-20873T>C) n.4987T>C n.5028T>C	ClinVar dbSNP gnomAD v4
17	g.43071063A>T	CA500231794	BRCA1	c.4848T>A (p.Ala1616=) c.4851T>A (p.Ala1617=) c.4725T>A (p.Ala1575=) c.4845T>A (p.Ala1615=) c.4773T>A (p.Ala1591=) c.1539T>A (p.Ala513=) c.1401T>A (p.Ala467=) c.3963T>A (p.Ala1321=) c.4728T>A (p.Ala1576=) c.4917T>A (p.Ala1639=) c.4710T>A (p.Ala1570=) c.1413T>A (p.Ala471=) c.1458T>A (p.Ala486=) c.4914T>A (p.Ala1638=) c.1238T>A c.1425T>A (p.Ala475=) c.4634T>A (n.4634T>A) n.4T>A c.1164T>A (p.Ala388=) c.5-7112T>A (n.5-7112T>A) c.324T>A (p.Ala108=) c.-98-20873T>A (n.-98-20873T>A) n.4987T>A n.5028T>A	dbSNP
17	g.43071064G>A	CA10591823	BRCA1	c.4847C>T (p.Ala1616Val) c.4850C>T (p.Ala1617Val) c.4724C>T (p.Ala1575Val) c.4844C>T (p.Ala1615Val) c.4772C>T (p.Ala1591Val) c.1538C>T (p.Ala513Val) c.1400C>T (p.Ala467Val) c.3962C>T (p.Ala1321Val) c.4727C>T (p.Ala1576Val) c.4916C>T (p.Ala1639Val) c.4709C>T (p.Ala1570Val) c.1412C>T (p.Ala471Val) c.1457C>T (p.Ala486Val) c.4913C>T (p.Ala1638Val) c.1237C>T c.1424C>T (p.Ala475Val) c.4633C>T (n.4633C>T) n.3C>T c.1163C>T (p.Ala388Val) c.5-7113C>T (n.5-7113C>T) c.323C>T (p.Ala108Val) c.-98-20874C>T (n.-98-20874C>T) n.4986C>T n.5027C>T	ClinVar dbSNP
17	g.43071064G>C	CA10591824	BRCA1	c.4847C>G (p.Ala1616Gly) c.4850C>G (p.Ala1617Gly) c.4724C>G (p.Ala1575Gly) c.4844C>G (p.Ala1615Gly) c.4772C>G (p.Ala1591Gly) c.1538C>G (p.Ala513Gly) c.1400C>G (p.Ala467Gly) c.3962C>G (p.Ala1321Gly) c.4727C>G (p.Ala1576Gly) c.4916C>G (p.Ala1639Gly) c.4709C>G (p.Ala1570Gly) c.1412C>G (p.Ala471Gly) c.1457C>G (p.Ala486Gly) c.4913C>G (p.Ala1638Gly) c.1237C>G c.1424C>G (p.Ala475Gly) c.4633C>G (n.4633C>G) n.3C>G c.1163C>G (p.Ala388Gly) c.5-7113C>G (n.5-7113C>G) c.323C>G (p.Ala108Gly) c.-98-20874C>G (n.-98-20874C>G) n.4986C>G n.5027C>G	dbSNP
17	g.43071064G=	CA2260772879	BRCA1	c.4847C= (p.Ala1616=) c.4850C= (p.Ala1617=) c.4724C= (p.Ala1575=) c.4844C= (p.Ala1615=) c.4772C= (p.Ala1591=) c.1538C= (p.Ala513=) c.1400C= (p.Ala467=) c.3962C= (p.Ala1321=) c.4727C= (p.Ala1576=) c.4916C= (p.Ala1639=) c.4709C= (p.Ala1570=) c.1412C= (p.Ala471=) c.1457C= (p.Ala486=) c.4913C= (p.Ala1638=) c.1237C= c.1424C= (p.Ala475=) c.4633C= (n.4633C=) n.3C= c.1163C= (p.Ala388=) c.5-7113C= (n.5-7113C=) c.323C= (p.Ala108=) c.-98-20874C= (n.-98-20874C=) n.4986C= n.5027C=
17	g.43071064G>T	CA10591825	BRCA1	c.4847C>A (p.Ala1616Asp) c.4850C>A (p.Ala1617Asp) c.4724C>A (p.Ala1575Asp) c.4844C>A (p.Ala1615Asp) c.4772C>A (p.Ala1591Asp) c.1538C>A (p.Ala513Asp) c.1400C>A (p.Ala467Asp) c.3962C>A (p.Ala1321Asp) c.4727C>A (p.Ala1576Asp) c.4916C>A (p.Ala1639Asp) c.4709C>A (p.Ala1570Asp) c.1412C>A (p.Ala471Asp) c.1457C>A (p.Ala486Asp) c.4913C>A (p.Ala1638Asp) c.1237C>A c.1424C>A (p.Ala475Asp) c.4633C>A (n.4633C>A) n.3C>A c.1163C>A (p.Ala388Asp) c.5-7113C>A (n.5-7113C>A) c.323C>A (p.Ala108Asp) c.-98-20874C>A (n.-98-20874C>A) n.4986C>A n.5027C>A	dbSNP
17	g.43071065C>A	CA10591826	BRCA1	c.4846G>T (p.Ala1616Ser) c.4849G>T (p.Ala1617Ser) c.4723G>T (p.Ala1575Ser) c.4843G>T (p.Ala1615Ser) c.4771G>T (p.Ala1591Ser) c.1537G>T (p.Ala513Ser) c.1399G>T (p.Ala467Ser) c.3961G>T (p.Ala1321Ser) c.4726G>T (p.Ala1576Ser) c.4915G>T (p.Ala1639Ser) c.4708G>T (p.Ala1570Ser) c.1411G>T (p.Ala471Ser) c.1456G>T (p.Ala486Ser) c.4912G>T (p.Ala1638Ser) c.1236G>T c.1423G>T (p.Ala475Ser) c.4632G>T (n.4632G>T) n.2G>T c.1162G>T (p.Ala388Ser) c.5-7114G>T (n.5-7114G>T) c.322G>T (p.Ala108Ser) c.-98-20875G>T (n.-98-20875G>T) n.4985G>T n.5026G>T	ClinVar dbSNP
17	g.43071065C>G	CA10591827	BRCA1	c.4846G>C (p.Ala1616Pro) c.4849G>C (p.Ala1617Pro) c.4723G>C (p.Ala1575Pro) c.4843G>C (p.Ala1615Pro) c.4771G>C (p.Ala1591Pro) c.1537G>C (p.Ala513Pro) c.1399G>C (p.Ala467Pro) c.3961G>C (p.Ala1321Pro) c.4726G>C (p.Ala1576Pro) c.4915G>C (p.Ala1639Pro) c.4708G>C (p.Ala1570Pro) c.1411G>C (p.Ala471Pro) c.1456G>C (p.Ala486Pro) c.4912G>C (p.Ala1638Pro) c.1236G>C c.1423G>C (p.Ala475Pro) c.4632G>C (n.4632G>C) n.2G>C c.1162G>C (p.Ala388Pro) c.5-7114G>C (n.5-7114G>C) c.322G>C (p.Ala108Pro) c.-98-20875G>C (n.-98-20875G>C) n.4985G>C n.5026G>C	dbSNP
17	g.43071065C>T	CA10591828	BRCA1	c.4846G>A (p.Ala1616Thr) c.4849G>A (p.Ala1617Thr) c.4723G>A (p.Ala1575Thr) c.4843G>A (p.Ala1615Thr) c.4771G>A (p.Ala1591Thr) c.1537G>A (p.Ala513Thr) c.1399G>A (p.Ala467Thr) c.3961G>A (p.Ala1321Thr) c.4726G>A (p.Ala1576Thr) c.4915G>A (p.Ala1639Thr) c.4708G>A (p.Ala1570Thr) c.1411G>A (p.Ala471Thr) c.1456G>A (p.Ala486Thr) c.4912G>A (p.Ala1638Thr) c.1236G>A c.1423G>A (p.Ala475Thr) c.4632G>A (n.4632G>A) n.2G>A c.1162G>A (p.Ala388Thr) c.5-7114G>A (n.5-7114G>A) c.322G>A (p.Ala108Thr) c.-98-20875G>A (n.-98-20875G>A) n.4985G>A n.5026G>A	ClinVar dbSNP
17	g.43071066A=	CA2260772880	BRCA1	c.4845T= (p.Ala1615=) c.4848T= (p.Ala1616=) c.4722T= (p.Ala1574=) c.4842T= (p.Ala1614=) c.4770T= (p.Ala1590=) c.1536T= (p.Ala512=) c.1398T= (p.Ala466=) c.3960T= (p.Ala1320=) c.4725T= (p.Ala1575=) c.4914T= (p.Ala1638=) c.4707T= (p.Ala1569=) c.1410T= (p.Ala470=) c.1455T= (p.Ala485=) c.4911T= (p.Ala1637=) c.1235T= c.1422T= (p.Ala474=) c.4631T= (n.4631T=) n.1T= c.1161T= (p.Ala387=) c.5-7115T= (n.5-7115T=) c.321T= (p.Ala107=) c.-98-20876T= (n.-98-20876T=) n.4984T= n.5025T=
17	g.43071066A>C	CA500231800	BRCA1	c.4845T>G (p.Ala1615=) c.4848T>G (p.Ala1616=) c.4722T>G (p.Ala1574=) c.4842T>G (p.Ala1614=) c.4770T>G (p.Ala1590=) c.1536T>G (p.Ala512=) c.1398T>G (p.Ala466=) c.3960T>G (p.Ala1320=) c.4725T>G (p.Ala1575=) c.4914T>G (p.Ala1638=) c.4707T>G (p.Ala1569=) c.1410T>G (p.Ala470=) c.1455T>G (p.Ala485=) c.4911T>G (p.Ala1637=) c.1235T>G c.1422T>G (p.Ala474=) c.4631T>G (n.4631T>G) n.1T>G c.1161T>G (p.Ala387=) c.5-7115T>G (n.5-7115T>G) c.321T>G (p.Ala107=) c.-98-20876T>G (n.-98-20876T>G) n.4984T>G n.5025T>G
17	g.43071066A>G	CA500231798	BRCA1	c.4845T>C (p.Ala1615=) c.4848T>C (p.Ala1616=) c.4722T>C (p.Ala1574=) c.4842T>C (p.Ala1614=) c.4770T>C (p.Ala1590=) c.1536T>C (p.Ala512=) c.1398T>C (p.Ala466=) c.3960T>C (p.Ala1320=) c.4725T>C (p.Ala1575=) c.4914T>C (p.Ala1638=) c.4707T>C (p.Ala1569=) c.1410T>C (p.Ala470=) c.1455T>C (p.Ala485=) c.4911T>C (p.Ala1637=) c.1235T>C c.1422T>C (p.Ala474=) c.4631T>C (n.4631T>C) n.1T>C c.1161T>C (p.Ala387=) c.5-7115T>C (n.5-7115T>C) c.321T>C (p.Ala107=) c.-98-20876T>C (n.-98-20876T>C) n.4984T>C n.5025T>C	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.43071066A>T	CA500231799	BRCA1	c.4845T>A (p.Ala1615=) c.4848T>A (p.Ala1616=) c.4722T>A (p.Ala1574=) c.4842T>A (p.Ala1614=) c.4770T>A (p.Ala1590=) c.1536T>A (p.Ala512=) c.1398T>A (p.Ala466=) c.3960T>A (p.Ala1320=) c.4725T>A (p.Ala1575=) c.4914T>A (p.Ala1638=) c.4707T>A (p.Ala1569=) c.1410T>A (p.Ala470=) c.1455T>A (p.Ala485=) c.4911T>A (p.Ala1637=) c.1235T>A c.1422T>A (p.Ala474=) c.4631T>A (n.4631T>A) n.1T>A c.1161T>A (p.Ala387=) c.5-7115T>A (n.5-7115T>A) c.321T>A (p.Ala107=) c.-98-20876T>A (n.-98-20876T>A) n.4984T>A n.5025T>A	dbSNP
17	g.43071066_43071081delinsAGCAGCTGGACTCTGG	CA2260772881	BRCA1	c.4830_4845delinsCCAGAGTCCAGCTGCT (p.Ala1610=) c.4833_4848delinsCCAGAGTCCAGCTGCT (p.Ala1611=) c.4707_4722delinsCCAGAGTCCAGCTGCT (p.Ala1569=) c.4827_4842delinsCCAGAGTCCAGCTGCT (p.Ala1609=) c.4755_4770delinsCCAGAGTCCAGCTGCT (p.Ala1585=) c.1521_1536delinsCCAGAGTCCAGCTGCT (p.Ala507=) c.1383_1398delinsCCAGAGTCCAGCTGCT (p.Ala461=) c.3945_3960delinsCCAGAGTCCAGCTGCT (p.Ala1315=) c.4710_4725delinsCCAGAGTCCAGCTGCT (p.Ala1570=) c.4899_4914delinsCCAGAGTCCAGCTGCT (p.Ala1633=) c.4692_4707delinsCCAGAGTCCAGCTGCT (p.Ala1564=) c.1395_1410delinsCCAGAGTCCAGCTGCT (p.Ala465=) c.1440_1455delinsCCAGAGTCCAGCTGCT (p.Ala480=) c.4896_4911delinsCCAGAGTCCAGCTGCT (p.Ala1632=) c.1220_1235delinsCCAGAGTCCAGCTGCT c.1407_1422delinsCCAGAGTCCAGCTGCT (p.Ala469=) c.4616_4631delinsCCAGAGTCCAGCTGCT (n.4616_4631delinsCCAGAGTCCAGCTGCT) c.1146_1161delinsCCAGAGTCCAGCTGCT (p.Ala382=) c.5-7130_5-7115delinsCCAGAGTCCAGCTGCT (n.5-7130_5-7115delinsCCAGAGTCCAGCTGCT) c.306_321delinsCCAGAGTCCAGCTGCT (p.Ala102=) c.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT (n.-98-20891_-98-20876delinsCCAGAGTCCAGCTGCT) n.4969_4984delinsCCAGAGTCCAGCTGCT n.5010_5025delinsCCAGAGTCCAGCTGCT
17	g.43071067G>A	CA10591829	BRCA1	c.4844C>T (p.Ala1615Val) c.4847C>T (p.Ala1616Val) c.4721C>T (p.Ala1574Val) c.4841C>T (p.Ala1614Val) c.4769C>T (p.Ala1590Val) c.1535C>T (p.Ala512Val) c.1397C>T (p.Ala466Val) c.3959C>T (p.Ala1320Val) c.4724C>T (p.Ala1575Val) c.4913C>T (p.Ala1638Val) c.4706C>T (p.Ala1569Val) c.1409C>T (p.Ala470Val) c.1454C>T (p.Ala485Val) c.4910C>T (p.Ala1637Val) c.1234C>T c.1421C>T (p.Ala474Val) c.4630C>T (n.4630C>T) c.1160C>T (p.Ala387Val) c.5-7116C>T (n.5-7116C>T) c.320C>T (p.Ala107Val) c.-98-20877C>T (n.-98-20877C>T) n.4983C>T n.5024C>T	ClinVar dbSNP gnomAD v4
17	g.43071067G>C	CA10591830	BRCA1	c.4844C>G (p.Ala1615Gly) c.4847C>G (p.Ala1616Gly) c.4721C>G (p.Ala1574Gly) c.4841C>G (p.Ala1614Gly) c.4769C>G (p.Ala1590Gly) c.1535C>G (p.Ala512Gly) c.1397C>G (p.Ala466Gly) c.3959C>G (p.Ala1320Gly) c.4724C>G (p.Ala1575Gly) c.4913C>G (p.Ala1638Gly) c.4706C>G (p.Ala1569Gly) c.1409C>G (p.Ala470Gly) c.1454C>G (p.Ala485Gly) c.4910C>G (p.Ala1637Gly) c.1234C>G c.1421C>G (p.Ala474Gly) c.4630C>G (n.4630C>G) c.1160C>G (p.Ala387Gly) c.5-7116C>G (n.5-7116C>G) c.320C>G (p.Ala107Gly) c.-98-20877C>G (n.-98-20877C>G) n.4983C>G n.5024C>G	dbSNP
17	g.43071067G=	CA2260772882	BRCA1	c.4844C= (p.Ala1615=) c.4847C= (p.Ala1616=) c.4721C= (p.Ala1574=) c.4841C= (p.Ala1614=) c.4769C= (p.Ala1590=) c.1535C= (p.Ala512=) c.1397C= (p.Ala466=) c.3959C= (p.Ala1320=) c.4724C= (p.Ala1575=) c.4913C= (p.Ala1638=) c.4706C= (p.Ala1569=) c.1409C= (p.Ala470=) c.1454C= (p.Ala485=) c.4910C= (p.Ala1637=) c.1234C= c.1421C= (p.Ala474=) c.4630C= (n.4630C=) c.1160C= (p.Ala387=) c.5-7116C= (n.5-7116C=) c.320C= (p.Ala107=) c.-98-20877C= (n.-98-20877C=) n.4983C= n.5024C=
17	g.43071067G>T	CA10591831	BRCA1	c.4844C>A (p.Ala1615Asp) c.4847C>A (p.Ala1616Asp) c.4721C>A (p.Ala1574Asp) c.4841C>A (p.Ala1614Asp) c.4769C>A (p.Ala1590Asp) c.1535C>A (p.Ala512Asp) c.1397C>A (p.Ala466Asp) c.3959C>A (p.Ala1320Asp) c.4724C>A (p.Ala1575Asp) c.4913C>A (p.Ala1638Asp) c.4706C>A (p.Ala1569Asp) c.1409C>A (p.Ala470Asp) c.1454C>A (p.Ala485Asp) c.4910C>A (p.Ala1637Asp) c.1234C>A c.1421C>A (p.Ala474Asp) c.4630C>A (n.4630C>A) c.1160C>A (p.Ala387Asp) c.5-7116C>A (n.5-7116C>A) c.320C>A (p.Ala107Asp) c.-98-20877C>A (n.-98-20877C>A) n.4983C>A n.5024C>A
17	g.43071071_43071085del	CA658825004	BRCA1	c.4830_4844del (p.Gln1611_Ala1615del) c.4833_4847del (p.Gln1612_Ala1616del) c.4707_4721del (p.Gln1570_Ala1574del) c.4827_4841del (p.Gln1610_Ala1614del) c.4755_4769del (p.Gln1586_Ala1590del) c.1521_1535del (p.Gln508_Ala512del) c.1383_1397del (p.Gln462_Ala466del) c.3945_3959del (p.Gln1316_Ala1320del) c.4710_4724del (p.Gln1571_Ala1575del) c.4899_4913del (p.Gln1634_Ala1638del) c.4692_4706del (p.Gln1565_Ala1569del) c.1395_1409del (p.Gln466_Ala470del) c.1440_1454del (p.Gln481_Ala485del) c.4896_4910del (p.Gln1633_Ala1637del) c.1220_1234del c.1407_1421del (p.Gln470_Ala474del) c.4616_4630del (n.4616_4630del) c.1146_1160del (p.Gln383_Ala387del) c.5-7130_5-7116del (n.5-7130_5-7116del) c.306_320del (p.Gln103_Ala107del) c.-98-20891_-98-20877del (n.-98-20891_-98-20877del) n.4969_4983del n.5010_5024del	ClinVar dbSNP
17	g.43071068C>A	CA10591832	BRCA1	c.4843G>T (p.Ala1615Ser) c.4846G>T (p.Ala1616Ser) c.4720G>T (p.Ala1574Ser) c.4840G>T (p.Ala1614Ser) c.4768G>T (p.Ala1590Ser) c.1534G>T (p.Ala512Ser) c.1396G>T (p.Ala466Ser) c.3958G>T (p.Ala1320Ser) c.4723G>T (p.Ala1575Ser) c.4912G>T (p.Ala1638Ser) c.4705G>T (p.Ala1569Ser) c.1408G>T (p.Ala470Ser) c.1453G>T (p.Ala485Ser) c.4909G>T (p.Ala1637Ser) c.1233G>T c.1420G>T (p.Ala474Ser) c.4629G>T (n.4629G>T) c.1159G>T (p.Ala387Ser) c.5-7117G>T (n.5-7117G>T) c.319G>T (p.Ala107Ser) c.-98-20878G>T (n.-98-20878G>T) n.4982G>T n.5023G>T	dbSNP
17	g.43071068C=	CA2260772883	BRCA1	c.4843G= (p.Ala1615=) c.4846G= (p.Ala1616=) c.4720G= (p.Ala1574=) c.4840G= (p.Ala1614=) c.4768G= (p.Ala1590=) c.1534G= (p.Ala512=) c.1396G= (p.Ala466=) c.3958G= (p.Ala1320=) c.4723G= (p.Ala1575=) c.4912G= (p.Ala1638=) c.4705G= (p.Ala1569=) c.1408G= (p.Ala470=) c.1453G= (p.Ala485=) c.4909G= (p.Ala1637=) c.1233G= c.1420G= (p.Ala474=) c.4629G= (n.4629G=) c.1159G= (p.Ala387=) c.5-7117G= (n.5-7117G=) c.319G= (p.Ala107=) c.-98-20878G= (n.-98-20878G=) n.4982G= n.5023G=
17	g.43071068C>G	CA10591833	BRCA1	c.4843G>C (p.Ala1615Pro) c.4846G>C (p.Ala1616Pro) c.4720G>C (p.Ala1574Pro) c.4840G>C (p.Ala1614Pro) c.4768G>C (p.Ala1590Pro) c.1534G>C (p.Ala512Pro) c.1396G>C (p.Ala466Pro) c.3958G>C (p.Ala1320Pro) c.4723G>C (p.Ala1575Pro) c.4912G>C (p.Ala1638Pro) c.4705G>C (p.Ala1569Pro) c.1408G>C (p.Ala470Pro) c.1453G>C (p.Ala485Pro) c.4909G>C (p.Ala1637Pro) c.1233G>C c.1420G>C (p.Ala474Pro) c.4629G>C (n.4629G>C) c.1159G>C (p.Ala387Pro) c.5-7117G>C (n.5-7117G>C) c.319G>C (p.Ala107Pro) c.-98-20878G>C (n.-98-20878G>C) n.4982G>C n.5023G>C	ClinVar dbSNP
17	g.43071068C>T	CA10591834	BRCA1	c.4843G>A (p.Ala1615Thr) c.4846G>A (p.Ala1616Thr) c.4720G>A (p.Ala1574Thr) c.4840G>A (p.Ala1614Thr) c.4768G>A (p.Ala1590Thr) c.1534G>A (p.Ala512Thr) c.1396G>A (p.Ala466Thr) c.3958G>A (p.Ala1320Thr) c.4723G>A (p.Ala1575Thr) c.4912G>A (p.Ala1638Thr) c.4705G>A (p.Ala1569Thr) c.1408G>A (p.Ala470Thr) c.1453G>A (p.Ala485Thr) c.4909G>A (p.Ala1637Thr) c.1233G>A c.1420G>A (p.Ala474Thr) c.4629G>A (n.4629G>A) c.1159G>A (p.Ala387Thr) c.5-7117G>A (n.5-7117G>A) c.319G>A (p.Ala107Thr) c.-98-20878G>A (n.-98-20878G>A) n.4982G>A n.5023G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.43071069A=	CA2260772884	BRCA1	c.4842T= (p.Ala1614=) c.4845T= (p.Ala1615=) c.4719T= (p.Ala1573=) c.4839T= (p.Ala1613=) c.4767T= (p.Ala1589=) c.1533T= (p.Ala511=) c.1395T= (p.Ala465=) c.3957T= (p.Ala1319=) c.4722T= (p.Ala1574=) c.4911T= (p.Ala1637=) c.4704T= (p.Ala1568=) c.1407T= (p.Ala469=) c.1452T= (p.Ala484=) c.4908T= (p.Ala1636=) c.1232T= c.1419T= (p.Ala473=) c.4628T= (n.4628T=) c.1158T= (p.Ala386=) c.5-7118T= (n.5-7118T=) c.318T= (p.Ala106=) c.-98-20879T= (n.-98-20879T=) n.4981T= n.5022T=
17	g.43071069A>C	CA500231802	BRCA1	c.4842T>G (p.Ala1614=) c.4845T>G (p.Ala1615=) c.4719T>G (p.Ala1573=) c.4839T>G (p.Ala1613=) c.4767T>G (p.Ala1589=) c.1533T>G (p.Ala511=) c.1395T>G (p.Ala465=) c.3957T>G (p.Ala1319=) c.4722T>G (p.Ala1574=) c.4911T>G (p.Ala1637=) c.4704T>G (p.Ala1568=) c.1407T>G (p.Ala469=) c.1452T>G (p.Ala484=) c.4908T>G (p.Ala1636=) c.1232T>G c.1419T>G (p.Ala473=) c.4628T>G (n.4628T>G) c.1158T>G (p.Ala386=) c.5-7118T>G (n.5-7118T>G) c.318T>G (p.Ala106=) c.-98-20879T>G (n.-98-20879T>G) n.4981T>G n.5022T>G
17	g.43071069A>G	CA003051	BRCA1	c.4842T>C (p.Ala1614=) c.4845T>C (p.Ala1615=) c.4719T>C (p.Ala1573=) c.4839T>C (p.Ala1613=) c.4767T>C (p.Ala1589=) c.1533T>C (p.Ala511=) c.1395T>C (p.Ala465=) c.3957T>C (p.Ala1319=) c.4722T>C (p.Ala1574=) c.4911T>C (p.Ala1637=) c.4704T>C (p.Ala1568=) c.1407T>C (p.Ala469=) c.1452T>C (p.Ala484=) c.4908T>C (p.Ala1636=) c.1232T>C c.1419T>C (p.Ala473=) c.4628T>C (n.4628T>C) c.1158T>C (p.Ala386=) c.5-7118T>C (n.5-7118T>C) c.318T>C (p.Ala106=) c.-98-20879T>C (n.-98-20879T>C) n.4981T>C n.5022T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071069A>T	CA500231803	BRCA1	c.4842T>A (p.Ala1614=) c.4845T>A (p.Ala1615=) c.4719T>A (p.Ala1573=) c.4839T>A (p.Ala1613=) c.4767T>A (p.Ala1589=) c.1533T>A (p.Ala511=) c.1395T>A (p.Ala465=) c.3957T>A (p.Ala1319=) c.4722T>A (p.Ala1574=) c.4911T>A (p.Ala1637=) c.4704T>A (p.Ala1568=) c.1407T>A (p.Ala469=) c.1452T>A (p.Ala484=) c.4908T>A (p.Ala1636=) c.1232T>A c.1419T>A (p.Ala473=) c.4628T>A (n.4628T>A) c.1158T>A (p.Ala386=) c.5-7118T>A (n.5-7118T>A) c.318T>A (p.Ala106=) c.-98-20879T>A (n.-98-20879T>A) n.4981T>A n.5022T>A	dbSNP
17	g.43071069_43071072dup	CA2580094020	BRCA1	c.4839_4842dup (p.Ala1615SerfsTer7) c.4842_4845dup (p.Ala1616SerfsTer7) c.4716_4719dup (p.Ala1574SerfsTer7) c.4836_4839dup (p.Ala1614SerfsTer7) c.4764_4767dup (p.Ala1590SerfsTer7) c.1530_1533dup (p.Ala512SerfsTer7) c.1392_1395dup (p.Ala466SerfsTer7) c.3954_3957dup (p.Ala1320SerfsTer7) c.4719_4722dup (p.Ala1575SerfsTer7) c.4908_4911dup (p.Ala1638SerfsTer7) c.4701_4704dup (p.Ala1569SerfsTer7) c.1404_1407dup (p.Ala470SerfsTer7) c.1449_1452dup (p.Ala485SerfsTer7) c.4905_4908dup (p.Ala1637SerfsTer7) c.1229_1232dup c.1416_1419dup (p.Ala474SerfsTer7) c.4625_4628dup (n.4625_4628dup) c.1155_1158dup (p.Ala387SerfsTer7) c.5-7121_5-7118dup (n.5-7121_5-7118dup) c.315_318dup (p.Ala107SerfsTer7) c.-98-20882_-98-20879dup (n.-98-20882_-98-20879dup) n.4978_4981dup n.5019_5022dup	ClinVar
17	g.43071070G>A	CA10591835	BRCA1	c.4841C>T (p.Ala1614Val) c.4844C>T (p.Ala1615Val) c.4718C>T (p.Ala1573Val) c.4838C>T (p.Ala1613Val) c.4766C>T (p.Ala1589Val) c.1532C>T (p.Ala511Val) c.1394C>T (p.Ala465Val) c.3956C>T (p.Ala1319Val) c.4721C>T (p.Ala1574Val) c.4910C>T (p.Ala1637Val) c.4703C>T (p.Ala1568Val) c.1406C>T (p.Ala469Val) c.1451C>T (p.Ala484Val) c.4907C>T (p.Ala1636Val) c.1231C>T c.1418C>T (p.Ala473Val) c.4627C>T (n.4627C>T) c.1157C>T (p.Ala386Val) c.5-7119C>T (n.5-7119C>T) c.317C>T (p.Ala106Val) c.-98-20880C>T (n.-98-20880C>T) n.4980C>T n.5021C>T	ClinVar dbSNP
17	g.43071070G>C	CA10591836	BRCA1	c.4841C>G (p.Ala1614Gly) c.4844C>G (p.Ala1615Gly) c.4718C>G (p.Ala1573Gly) c.4838C>G (p.Ala1613Gly) c.4766C>G (p.Ala1589Gly) c.1532C>G (p.Ala511Gly) c.1394C>G (p.Ala465Gly) c.3956C>G (p.Ala1319Gly) c.4721C>G (p.Ala1574Gly) c.4910C>G (p.Ala1637Gly) c.4703C>G (p.Ala1568Gly) c.1406C>G (p.Ala469Gly) c.1451C>G (p.Ala484Gly) c.4907C>G (p.Ala1636Gly) c.1231C>G c.1418C>G (p.Ala473Gly) c.4627C>G (n.4627C>G) c.1157C>G (p.Ala386Gly) c.5-7119C>G (n.5-7119C>G) c.317C>G (p.Ala106Gly) c.-98-20880C>G (n.-98-20880C>G) n.4980C>G n.5021C>G	ClinVar dbSNP
17	g.43071070G=	CA2260772885	BRCA1	c.4841C= (p.Ala1614=) c.4844C= (p.Ala1615=) c.4718C= (p.Ala1573=) c.4838C= (p.Ala1613=) c.4766C= (p.Ala1589=) c.1532C= (p.Ala511=) c.1394C= (p.Ala465=) c.3956C= (p.Ala1319=) c.4721C= (p.Ala1574=) c.4910C= (p.Ala1637=) c.4703C= (p.Ala1568=) c.1406C= (p.Ala469=) c.1451C= (p.Ala484=) c.4907C= (p.Ala1636=) c.1231C= c.1418C= (p.Ala473=) c.4627C= (n.4627C=) c.1157C= (p.Ala386=) c.5-7119C= (n.5-7119C=) c.317C= (p.Ala106=) c.-98-20880C= (n.-98-20880C=) n.4980C= n.5021C=
17	g.43071070G>T	CA10591837	BRCA1	c.4841C>A (p.Ala1614Asp) c.4844C>A (p.Ala1615Asp) c.4718C>A (p.Ala1573Asp) c.4838C>A (p.Ala1613Asp) c.4766C>A (p.Ala1589Asp) c.1532C>A (p.Ala511Asp) c.1394C>A (p.Ala465Asp) c.3956C>A (p.Ala1319Asp) c.4721C>A (p.Ala1574Asp) c.4910C>A (p.Ala1637Asp) c.4703C>A (p.Ala1568Asp) c.1406C>A (p.Ala469Asp) c.1451C>A (p.Ala484Asp) c.4907C>A (p.Ala1636Asp) c.1231C>A c.1418C>A (p.Ala473Asp) c.4627C>A (n.4627C>A) c.1157C>A (p.Ala386Asp) c.5-7119C>A (n.5-7119C>A) c.317C>A (p.Ala106Asp) c.-98-20880C>A (n.-98-20880C>A) n.4980C>A n.5021C>A	dbSNP
17	g.43071071C>A	CA10591838	BRCA1	c.4840G>T (p.Ala1614Ser) c.4843G>T (p.Ala1615Ser) c.4717G>T (p.Ala1573Ser) c.4837G>T (p.Ala1613Ser) c.4765G>T (p.Ala1589Ser) c.1531G>T (p.Ala511Ser) c.1393G>T (p.Ala465Ser) c.3955G>T (p.Ala1319Ser) c.4720G>T (p.Ala1574Ser) c.4909G>T (p.Ala1637Ser) c.4702G>T (p.Ala1568Ser) c.1405G>T (p.Ala469Ser) c.1450G>T (p.Ala484Ser) c.4906G>T (p.Ala1636Ser) c.1230G>T c.1417G>T (p.Ala473Ser) c.4626G>T (n.4626G>T) c.1156G>T (p.Ala386Ser) c.5-7120G>T (n.5-7120G>T) c.316G>T (p.Ala106Ser) c.-98-20881G>T (n.-98-20881G>T) n.4979G>T n.5020G>T	dbSNP
17	g.43071071C=	CA2260772886	BRCA1	c.4840G= (p.Ala1614=) c.4843G= (p.Ala1615=) c.4717G= (p.Ala1573=) c.4837G= (p.Ala1613=) c.4765G= (p.Ala1589=) c.1531G= (p.Ala511=) c.1393G= (p.Ala465=) c.3955G= (p.Ala1319=) c.4720G= (p.Ala1574=) c.4909G= (p.Ala1637=) c.4702G= (p.Ala1568=) c.1405G= (p.Ala469=) c.1450G= (p.Ala484=) c.4906G= (p.Ala1636=) c.1230G= c.1417G= (p.Ala473=) c.4626G= (n.4626G=) c.1156G= (p.Ala386=) c.5-7120G= (n.5-7120G=) c.316G= (p.Ala106=) c.-98-20881G= (n.-98-20881G=) n.4979G= n.5020G=
17	g.43071071C>G	CA10591839	BRCA1	c.4840G>C (p.Ala1614Pro) c.4843G>C (p.Ala1615Pro) c.4717G>C (p.Ala1573Pro) c.4837G>C (p.Ala1613Pro) c.4765G>C (p.Ala1589Pro) c.1531G>C (p.Ala511Pro) c.1393G>C (p.Ala465Pro) c.3955G>C (p.Ala1319Pro) c.4720G>C (p.Ala1574Pro) c.4909G>C (p.Ala1637Pro) c.4702G>C (p.Ala1568Pro) c.1405G>C (p.Ala469Pro) c.1450G>C (p.Ala484Pro) c.4906G>C (p.Ala1636Pro) c.1230G>C c.1417G>C (p.Ala473Pro) c.4626G>C (n.4626G>C) c.1156G>C (p.Ala386Pro) c.5-7120G>C (n.5-7120G>C) c.316G>C (p.Ala106Pro) c.-98-20881G>C (n.-98-20881G>C) n.4979G>C n.5020G>C	ClinVar dbSNP
17	g.43071071C>T	CA003050	BRCA1	c.4840G>A (p.Ala1614Thr) c.4843G>A (p.Ala1615Thr) c.4717G>A (p.Ala1573Thr) c.4837G>A (p.Ala1613Thr) c.4765G>A (p.Ala1589Thr) c.1531G>A (p.Ala511Thr) c.1393G>A (p.Ala465Thr) c.3955G>A (p.Ala1319Thr) c.4720G>A (p.Ala1574Thr) c.4909G>A (p.Ala1637Thr) c.4702G>A (p.Ala1568Thr) c.1405G>A (p.Ala469Thr) c.1450G>A (p.Ala484Thr) c.4906G>A (p.Ala1636Thr) c.1230G>A c.1417G>A (p.Ala473Thr) c.4626G>A (n.4626G>A) c.1156G>A (p.Ala386Thr) c.5-7120G>A (n.5-7120G>A) c.316G>A (p.Ala106Thr) c.-98-20881G>A (n.-98-20881G>A) n.4979G>A n.5020G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071071dup	CA003049	BRCA1	c.4840dup (p.Ala1614GlyfsTer7) c.4843dup (p.Ala1615GlyfsTer7) c.4717dup (p.Ala1573GlyfsTer7) c.4837dup (p.Ala1613GlyfsTer7) c.4765dup (p.Ala1589GlyfsTer7) c.1531dup (p.Ala511GlyfsTer7) c.1393dup (p.Ala465GlyfsTer7) c.3955dup (p.Ala1319GlyfsTer7) c.4720dup (p.Ala1574GlyfsTer7) c.4909dup (p.Ala1637GlyfsTer7) c.4702dup (p.Ala1568GlyfsTer7) c.1405dup (p.Ala469GlyfsTer7) c.1450dup (p.Ala484GlyfsTer7) c.4906dup (p.Ala1636GlyfsTer7) c.1230dup c.1417dup (p.Ala473GlyfsTer7) c.4626dup (n.4626dup) c.1156dup (p.Ala386GlyfsTer7) c.5-7120dup (n.5-7120dup) c.316dup (p.Ala106GlyfsTer7) c.-98-20881dup (n.-98-20881dup) n.4979dup n.5020dup	ClinVar dbSNP
17	g.43071072T>A	CA500231804	BRCA1	c.4839A>T (p.Pro1613=) c.4842A>T (p.Pro1614=) c.4716A>T (p.Pro1572=) c.4836A>T (p.Pro1612=) c.4764A>T (p.Pro1588=) c.1530A>T (p.Pro510=) c.1392A>T (p.Pro464=) c.3954A>T (p.Pro1318=) c.4719A>T (p.Pro1573=) c.4908A>T (p.Pro1636=) c.4701A>T (p.Pro1567=) c.1404A>T (p.Pro468=) c.1449A>T (p.Pro483=) c.4905A>T (p.Pro1635=) c.1229A>T c.1416A>T (p.Pro472=) c.4625A>T (n.4625A>T) c.1155A>T (p.Pro385=) c.5-7121A>T (n.5-7121A>T) c.315A>T (p.Pro105=) c.-98-20882A>T (n.-98-20882A>T) n.4978A>T n.5019A>T
17	g.43071072T>C	CA500231805	BRCA1	c.4839A>G (p.Pro1613=) c.4842A>G (p.Pro1614=) c.4716A>G (p.Pro1572=) c.4836A>G (p.Pro1612=) c.4764A>G (p.Pro1588=) c.1530A>G (p.Pro510=) c.1392A>G (p.Pro464=) c.3954A>G (p.Pro1318=) c.4719A>G (p.Pro1573=) c.4908A>G (p.Pro1636=) c.4701A>G (p.Pro1567=) c.1404A>G (p.Pro468=) c.1449A>G (p.Pro483=) c.4905A>G (p.Pro1635=) c.1229A>G c.1416A>G (p.Pro472=) c.4625A>G (n.4625A>G) c.1155A>G (p.Pro385=) c.5-7121A>G (n.5-7121A>G) c.315A>G (p.Pro105=) c.-98-20882A>G (n.-98-20882A>G) n.4978A>G n.5019A>G	ClinVar
17	g.43071072T>G	CA500231806	BRCA1	c.4839A>C (p.Pro1613=) c.4842A>C (p.Pro1614=) c.4716A>C (p.Pro1572=) c.4836A>C (p.Pro1612=) c.4764A>C (p.Pro1588=) c.1530A>C (p.Pro510=) c.1392A>C (p.Pro464=) c.3954A>C (p.Pro1318=) c.4719A>C (p.Pro1573=) c.4908A>C (p.Pro1636=) c.4701A>C (p.Pro1567=) c.1404A>C (p.Pro468=) c.1449A>C (p.Pro483=) c.4905A>C (p.Pro1635=) c.1229A>C c.1416A>C (p.Pro472=) c.4625A>C (n.4625A>C) c.1155A>C (p.Pro385=) c.5-7121A>C (n.5-7121A>C) c.315A>C (p.Pro105=) c.-98-20882A>C (n.-98-20882A>C) n.4978A>C n.5019A>C
17	g.43071072T=	CA2260772887	BRCA1	c.4839A= (p.Pro1613=) c.4842A= (p.Pro1614=) c.4716A= (p.Pro1572=) c.4836A= (p.Pro1612=) c.4764A= (p.Pro1588=) c.1530A= (p.Pro510=) c.1392A= (p.Pro464=) c.3954A= (p.Pro1318=) c.4719A= (p.Pro1573=) c.4908A= (p.Pro1636=) c.4701A= (p.Pro1567=) c.1404A= (p.Pro468=) c.1449A= (p.Pro483=) c.4905A= (p.Pro1635=) c.1229A= c.1416A= (p.Pro472=) c.4625A= (n.4625A=) c.1155A= (p.Pro385=) c.5-7121A= (n.5-7121A=) c.315A= (p.Pro105=) c.-98-20882A= (n.-98-20882A=) n.4978A= n.5019A=
17	g.43071073G>A	CA053344	BRCA1	c.4838C>T (p.Pro1613Leu) c.4841C>T (p.Pro1614Leu) c.4715C>T (p.Pro1572Leu) c.4835C>T (p.Pro1612Leu) c.4763C>T (p.Pro1588Leu) c.1529C>T (p.Pro510Leu) c.1391C>T (p.Pro464Leu) c.3953C>T (p.Pro1318Leu) c.4718C>T (p.Pro1573Leu) c.4907C>T (p.Pro1636Leu) c.4700C>T (p.Pro1567Leu) c.1403C>T (p.Pro468Leu) c.1448C>T (p.Pro483Leu) c.4904C>T (p.Pro1635Leu) c.1228C>T c.1415C>T (p.Pro472Leu) c.4624C>T (n.4624C>T) c.1154C>T (p.Pro385Leu) c.5-7122C>T (n.5-7122C>T) c.314C>T (p.Pro105Leu) c.-98-20883C>T (n.-98-20883C>T) n.4977C>T n.5018C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071073G>C	CA10591840	BRCA1	c.4838C>G (p.Pro1613Arg) c.4841C>G (p.Pro1614Arg) c.4715C>G (p.Pro1572Arg) c.4835C>G (p.Pro1612Arg) c.4763C>G (p.Pro1588Arg) c.1529C>G (p.Pro510Arg) c.1391C>G (p.Pro464Arg) c.3953C>G (p.Pro1318Arg) c.4718C>G (p.Pro1573Arg) c.4907C>G (p.Pro1636Arg) c.4700C>G (p.Pro1567Arg) c.1403C>G (p.Pro468Arg) c.1448C>G (p.Pro483Arg) c.4904C>G (p.Pro1635Arg) c.1228C>G c.1415C>G (p.Pro472Arg) c.4624C>G (n.4624C>G) c.1154C>G (p.Pro385Arg) c.5-7122C>G (n.5-7122C>G) c.314C>G (p.Pro105Arg) c.-98-20883C>G (n.-98-20883C>G) n.4977C>G n.5018C>G	ClinVar dbSNP
17	g.43071073G=	CA2260772888	BRCA1	c.4838C= (p.Pro1613=) c.4841C= (p.Pro1614=) c.4715C= (p.Pro1572=) c.4835C= (p.Pro1612=) c.4763C= (p.Pro1588=) c.1529C= (p.Pro510=) c.1391C= (p.Pro464=) c.3953C= (p.Pro1318=) c.4718C= (p.Pro1573=) c.4907C= (p.Pro1636=) c.4700C= (p.Pro1567=) c.1403C= (p.Pro468=) c.1448C= (p.Pro483=) c.4904C= (p.Pro1635=) c.1228C= c.1415C= (p.Pro472=) c.4624C= (n.4624C=) c.1154C= (p.Pro385=) c.5-7122C= (n.5-7122C=) c.314C= (p.Pro105=) c.-98-20883C= (n.-98-20883C=) n.4977C= n.5018C=
17	g.43071073G>T	CA10591841	BRCA1	c.4838C>A (p.Pro1613Gln) c.4841C>A (p.Pro1614Gln) c.4715C>A (p.Pro1572Gln) c.4835C>A (p.Pro1612Gln) c.4763C>A (p.Pro1588Gln) c.1529C>A (p.Pro510Gln) c.1391C>A (p.Pro464Gln) c.3953C>A (p.Pro1318Gln) c.4718C>A (p.Pro1573Gln) c.4907C>A (p.Pro1636Gln) c.4700C>A (p.Pro1567Gln) c.1403C>A (p.Pro468Gln) c.1448C>A (p.Pro483Gln) c.4904C>A (p.Pro1635Gln) c.1228C>A c.1415C>A (p.Pro472Gln) c.4624C>A (n.4624C>A) c.1154C>A (p.Pro385Gln) c.5-7122C>A (n.5-7122C>A) c.314C>A (p.Pro105Gln) c.-98-20883C>A (n.-98-20883C>A) n.4977C>A n.5018C>A
17	g.43071074dup	CA658825005	BRCA1	c.4838dup (p.Ala1614SerfsTer7) c.4841dup (p.Ala1615SerfsTer7) c.4715dup (p.Ala1573SerfsTer7) c.4835dup (p.Ala1613SerfsTer7) c.4763dup (p.Ala1589SerfsTer7) c.1529dup (p.Ala511SerfsTer7) c.1391dup (p.Ala465SerfsTer7) c.3953dup (p.Ala1319SerfsTer7) c.4718dup (p.Ala1574SerfsTer7) c.4907dup (p.Ala1637SerfsTer7) c.4700dup (p.Ala1568SerfsTer7) c.1403dup (p.Ala469SerfsTer7) c.1448dup (p.Ala484SerfsTer7) c.4904dup (p.Ala1636SerfsTer7) c.1228dup c.1415dup (p.Ala473SerfsTer7) c.4624dup (n.4624dup) c.1154dup (p.Ala386SerfsTer7) c.5-7122dup (n.5-7122dup) c.314dup (p.Ala106SerfsTer7) c.-98-20883dup (n.-98-20883dup) n.4977dup n.5018dup	ClinVar dbSNP
17	g.43071074del	CA645578302	BRCA1	c.4838del (p.Pro1613GlnfsTer19) c.4841del (p.Pro1614GlnfsTer19) c.4715del (p.Pro1572GlnfsTer19) c.4835del (p.Pro1612GlnfsTer19) c.4763del (p.Pro1588GlnfsTer19) c.1529del (p.Pro510GlnfsTer19) c.1391del (p.Pro464GlnfsTer19) c.3953del (p.Pro1318GlnfsTer19) c.4718del (p.Pro1573GlnfsTer19) c.4907del (p.Pro1636GlnfsTer19) c.4700del (p.Pro1567GlnfsTer19) c.1403del (p.Pro468GlnfsTer19) c.1448del (p.Pro483GlnfsTer19) c.4904del (p.Pro1635GlnfsTer19) c.1228del c.1415del (p.Pro472GlnfsTer19) c.4624del (n.4624del) c.1154del (p.Pro385GlnfsTer19) c.5-7122del (n.5-7122del) c.314del (p.Pro105GlnfsTer19) c.-98-20883del (n.-98-20883del) n.4977del n.5018del	COSMIC COSMIC
17	g.43071074G>A	CA003048	BRCA1	c.4837C>T (p.Pro1613Ser) c.4840C>T (p.Pro1614Ser) c.4714C>T (p.Pro1572Ser) c.4834C>T (p.Pro1612Ser) c.4762C>T (p.Pro1588Ser) c.1528C>T (p.Pro510Ser) c.1390C>T (p.Pro464Ser) c.3952C>T (p.Pro1318Ser) c.4717C>T (p.Pro1573Ser) c.4906C>T (p.Pro1636Ser) c.4699C>T (p.Pro1567Ser) c.1402C>T (p.Pro468Ser) c.1447C>T (p.Pro483Ser) c.4903C>T (p.Pro1635Ser) c.1227C>T c.1414C>T (p.Pro472Ser) c.4623C>T (n.4623C>T) c.1153C>T (p.Pro385Ser) c.5-7123C>T (n.5-7123C>T) c.313C>T (p.Pro105Ser) c.-98-20884C>T (n.-98-20884C>T) n.4976C>T n.5017C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071074G>C	CA10591842	BRCA1	c.4837C>G (p.Pro1613Ala) c.4840C>G (p.Pro1614Ala) c.4714C>G (p.Pro1572Ala) c.4834C>G (p.Pro1612Ala) c.4762C>G (p.Pro1588Ala) c.1528C>G (p.Pro510Ala) c.1390C>G (p.Pro464Ala) c.3952C>G (p.Pro1318Ala) c.4717C>G (p.Pro1573Ala) c.4906C>G (p.Pro1636Ala) c.4699C>G (p.Pro1567Ala) c.1402C>G (p.Pro468Ala) c.1447C>G (p.Pro483Ala) c.4903C>G (p.Pro1635Ala) c.1227C>G c.1414C>G (p.Pro472Ala) c.4623C>G (n.4623C>G) c.1153C>G (p.Pro385Ala) c.5-7123C>G (n.5-7123C>G) c.313C>G (p.Pro105Ala) c.-98-20884C>G (n.-98-20884C>G) n.4976C>G n.5017C>G	ClinVar dbSNP
17	g.43071074G=	CA2260772889	BRCA1	c.4837C= (p.Pro1613=) c.4840C= (p.Pro1614=) c.4714C= (p.Pro1572=) c.4834C= (p.Pro1612=) c.4762C= (p.Pro1588=) c.1528C= (p.Pro510=) c.1390C= (p.Pro464=) c.3952C= (p.Pro1318=) c.4717C= (p.Pro1573=) c.4906C= (p.Pro1636=) c.4699C= (p.Pro1567=) c.1402C= (p.Pro468=) c.1447C= (p.Pro483=) c.4903C= (p.Pro1635=) c.1227C= c.1414C= (p.Pro472=) c.4623C= (n.4623C=) c.1153C= (p.Pro385=) c.5-7123C= (n.5-7123C=) c.313C= (p.Pro105=) c.-98-20884C= (n.-98-20884C=) n.4976C= n.5017C=
17	g.43071074G>T	CA10591843	BRCA1	c.4837C>A (p.Pro1613Thr) c.4840C>A (p.Pro1614Thr) c.4714C>A (p.Pro1572Thr) c.4834C>A (p.Pro1612Thr) c.4762C>A (p.Pro1588Thr) c.1528C>A (p.Pro510Thr) c.1390C>A (p.Pro464Thr) c.3952C>A (p.Pro1318Thr) c.4717C>A (p.Pro1573Thr) c.4906C>A (p.Pro1636Thr) c.4699C>A (p.Pro1567Thr) c.1402C>A (p.Pro468Thr) c.1447C>A (p.Pro483Thr) c.4903C>A (p.Pro1635Thr) c.1227C>A c.1414C>A (p.Pro472Thr) c.4623C>A (n.4623C>A) c.1153C>A (p.Pro385Thr) c.5-7123C>A (n.5-7123C>A) c.313C>A (p.Pro105Thr) c.-98-20884C>A (n.-98-20884C>A) n.4976C>A n.5017C>A
17	g.43071075A=	CA2260772890	BRCA1	c.4836T= (p.Ser1612=) c.4839T= (p.Ser1613=) c.4713T= (p.Ser1571=) c.4833T= (p.Ser1611=) c.4761T= (p.Ser1587=) c.1527T= (p.Ser509=) c.1389T= (p.Ser463=) c.3951T= (p.Ser1317=) c.4716T= (p.Ser1572=) c.4905T= (p.Ser1635=) c.4698T= (p.Ser1566=) c.1401T= (p.Ser467=) c.1446T= (p.Ser482=) c.4902T= (p.Ser1634=) c.1226T= c.1413T= (p.Ser471=) c.4622T= (n.4622T=) c.1152T= (p.Ser384=) c.5-7124T= (n.5-7124T=) c.312T= (p.Ser104=) c.-98-20885T= (n.-98-20885T=) n.4975T= n.5016T=
17	g.43071075A>C	CA10591844	BRCA1	c.4836T>G (p.Ser1612Arg) c.4839T>G (p.Ser1613Arg) c.4713T>G (p.Ser1571Arg) c.4833T>G (p.Ser1611Arg) c.4761T>G (p.Ser1587Arg) c.1527T>G (p.Ser509Arg) c.1389T>G (p.Ser463Arg) c.3951T>G (p.Ser1317Arg) c.4716T>G (p.Ser1572Arg) c.4905T>G (p.Ser1635Arg) c.4698T>G (p.Ser1566Arg) c.1401T>G (p.Ser467Arg) c.1446T>G (p.Ser482Arg) c.4902T>G (p.Ser1634Arg) c.1226T>G c.1413T>G (p.Ser471Arg) c.4622T>G (n.4622T>G) c.1152T>G (p.Ser384Arg) c.5-7124T>G (n.5-7124T>G) c.312T>G (p.Ser104Arg) c.-98-20885T>G (n.-98-20885T>G) n.4975T>G n.5016T>G	dbSNP
17	g.43071075A>G	CA500231807	BRCA1	c.4836T>C (p.Ser1612=) c.4839T>C (p.Ser1613=) c.4713T>C (p.Ser1571=) c.4833T>C (p.Ser1611=) c.4761T>C (p.Ser1587=) c.1527T>C (p.Ser509=) c.1389T>C (p.Ser463=) c.3951T>C (p.Ser1317=) c.4716T>C (p.Ser1572=) c.4905T>C (p.Ser1635=) c.4698T>C (p.Ser1566=) c.1401T>C (p.Ser467=) c.1446T>C (p.Ser482=) c.4902T>C (p.Ser1634=) c.1226T>C c.1413T>C (p.Ser471=) c.4622T>C (n.4622T>C) c.1152T>C (p.Ser384=) c.5-7124T>C (n.5-7124T>C) c.312T>C (p.Ser104=) c.-98-20885T>C (n.-98-20885T>C) n.4975T>C n.5016T>C
17	g.43071075A>T	CA10591845	BRCA1	c.4836T>A (p.Ser1612Arg) c.4839T>A (p.Ser1613Arg) c.4713T>A (p.Ser1571Arg) c.4833T>A (p.Ser1611Arg) c.4761T>A (p.Ser1587Arg) c.1527T>A (p.Ser509Arg) c.1389T>A (p.Ser463Arg) c.3951T>A (p.Ser1317Arg) c.4716T>A (p.Ser1572Arg) c.4905T>A (p.Ser1635Arg) c.4698T>A (p.Ser1566Arg) c.1401T>A (p.Ser467Arg) c.1446T>A (p.Ser482Arg) c.4902T>A (p.Ser1634Arg) c.1226T>A c.1413T>A (p.Ser471Arg) c.4622T>A (n.4622T>A) c.1152T>A (p.Ser384Arg) c.5-7124T>A (n.5-7124T>A) c.312T>A (p.Ser104Arg) c.-98-20885T>A (n.-98-20885T>A) n.4975T>A n.5016T>A	dbSNP gnomAD v4
17	g.43071075_43071077delinsACT	CA2260772891	BRCA1	c.4834_4836delinsAGT (p.Ser1612=) c.4837_4839delinsAGT (p.Ser1613=) c.4711_4713delinsAGT (p.Ser1571=) c.4831_4833delinsAGT (p.Ser1611=) c.4759_4761delinsAGT (p.Ser1587=) c.1525_1527delinsAGT (p.Ser509=) c.1387_1389delinsAGT (p.Ser463=) c.3949_3951delinsAGT (p.Ser1317=) c.4714_4716delinsAGT (p.Ser1572=) c.4903_4905delinsAGT (p.Ser1635=) c.4696_4698delinsAGT (p.Ser1566=) c.1399_1401delinsAGT (p.Ser467=) c.1444_1446delinsAGT (p.Ser482=) c.4900_4902delinsAGT (p.Ser1634=) c.1224_1226delinsAGT c.1411_1413delinsAGT (p.Ser471=) c.4620_4622delinsAGT (n.4620_4622delinsAGT) c.1150_1152delinsAGT (p.Ser384=) c.5-7126_5-7124delinsAGT (n.5-7126_5-7124delinsAGT) c.310_312delinsAGT (p.Ser104=) c.-98-20887_-98-20885delinsAGT (n.-98-20887_-98-20885delinsAGT) n.4973_4975delinsAGT n.5014_5016delinsAGT
17	g.43071075_43071076insG	CA003047	BRCA1	c.4835_4836insC (p.Pro1613SerfsTer8) c.4838_4839insC (p.Pro1614SerfsTer8) c.4712_4713insC (p.Pro1572SerfsTer8) c.4832_4833insC (p.Pro1612SerfsTer8) c.4760_4761insC (p.Pro1588SerfsTer8) c.1526_1527insC (p.Pro510SerfsTer8) c.1388_1389insC (p.Pro464SerfsTer8) c.3950_3951insC (p.Pro1318SerfsTer8) c.4715_4716insC (p.Pro1573SerfsTer8) c.4904_4905insC (p.Pro1636SerfsTer8) c.4697_4698insC (p.Pro1567SerfsTer8) c.1400_1401insC (p.Pro468SerfsTer8) c.1445_1446insC (p.Pro483SerfsTer8) c.4901_4902insC (p.Pro1635SerfsTer8) c.1225_1226insC c.1412_1413insC (p.Pro472SerfsTer8) c.4621_4622insC (n.4621_4622insC) c.1151_1152insC (p.Pro385SerfsTer8) c.5-7125_5-7124insC (n.5-7125_5-7124insC) c.311_312insC (p.Pro105SerfsTer8) c.-98-20886_-98-20885insC (n.-98-20886_-98-20885insC) n.4974_4975insC n.5015_5016insC	ClinVar dbSNP
17	g.43071075_43071076insGG	CA2638062522	BRCA1	c.4835_4836insCC (p.Pro1613LeufsTer20) c.4838_4839insCC (p.Pro1614LeufsTer20) c.4712_4713insCC (p.Pro1572LeufsTer20) c.4832_4833insCC (p.Pro1612LeufsTer20) c.4760_4761insCC (p.Pro1588LeufsTer20) c.1526_1527insCC (p.Pro510LeufsTer20) c.1388_1389insCC (p.Pro464LeufsTer20) c.3950_3951insCC (p.Pro1318LeufsTer20) c.4715_4716insCC (p.Pro1573LeufsTer20) c.4904_4905insCC (p.Pro1636LeufsTer20) c.4697_4698insCC (p.Pro1567LeufsTer20) c.1400_1401insCC (p.Pro468LeufsTer20) c.1445_1446insCC (p.Pro483LeufsTer20) c.4901_4902insCC (p.Pro1635LeufsTer20) c.1225_1226insCC c.1412_1413insCC (p.Pro472LeufsTer20) c.4621_4622insCC (n.4621_4622insCC) c.1151_1152insCC (p.Pro385LeufsTer20) c.5-7125_5-7124insCC (n.5-7125_5-7124insCC) c.311_312insCC (p.Pro105LeufsTer20) c.-98-20886_-98-20885insCC (n.-98-20886_-98-20885insCC) n.4974_4975insCC n.5015_5016insCC	gnomAD v4
17	g.43071076C>A	CA10591846	BRCA1	c.4835G>T (p.Ser1612Ile) c.4838G>T (p.Ser1613Ile) c.4712G>T (p.Ser1571Ile) c.4832G>T (p.Ser1611Ile) c.4760G>T (p.Ser1587Ile) c.1526G>T (p.Ser509Ile) c.1388G>T (p.Ser463Ile) c.3950G>T (p.Ser1317Ile) c.4715G>T (p.Ser1572Ile) c.4904G>T (p.Ser1635Ile) c.4697G>T (p.Ser1566Ile) c.1400G>T (p.Ser467Ile) c.1445G>T (p.Ser482Ile) c.4901G>T (p.Ser1634Ile) c.1225G>T c.1412G>T (p.Ser471Ile) c.4621G>T (n.4621G>T) c.1151G>T (p.Ser384Ile) c.5-7125G>T (n.5-7125G>T) c.311G>T (p.Ser104Ile) c.-98-20886G>T (n.-98-20886G>T) n.4974G>T n.5015G>T
17	g.43071076C=	CA2260772893	BRCA1	c.4835G= (p.Ser1612=) c.4838G= (p.Ser1613=) c.4712G= (p.Ser1571=) c.4832G= (p.Ser1611=) c.4760G= (p.Ser1587=) c.1526G= (p.Ser509=) c.1388G= (p.Ser463=) c.3950G= (p.Ser1317=) c.4715G= (p.Ser1572=) c.4904G= (p.Ser1635=) c.4697G= (p.Ser1566=) c.1400G= (p.Ser467=) c.1445G= (p.Ser482=) c.4901G= (p.Ser1634=) c.1225G= c.1412G= (p.Ser471=) c.4621G= (n.4621G=) c.1151G= (p.Ser384=) c.5-7125G= (n.5-7125G=) c.311G= (p.Ser104=) c.-98-20886G= (n.-98-20886G=) n.4974G= n.5015G=
17	g.43071076C>G	CA10591847	BRCA1	c.4835G>C (p.Ser1612Thr) c.4838G>C (p.Ser1613Thr) c.4712G>C (p.Ser1571Thr) c.4832G>C (p.Ser1611Thr) c.4760G>C (p.Ser1587Thr) c.1526G>C (p.Ser509Thr) c.1388G>C (p.Ser463Thr) c.3950G>C (p.Ser1317Thr) c.4715G>C (p.Ser1572Thr) c.4904G>C (p.Ser1635Thr) c.4697G>C (p.Ser1566Thr) c.1400G>C (p.Ser467Thr) c.1445G>C (p.Ser482Thr) c.4901G>C (p.Ser1634Thr) c.1225G>C c.1412G>C (p.Ser471Thr) c.4621G>C (n.4621G>C) c.1151G>C (p.Ser384Thr) c.5-7125G>C (n.5-7125G>C) c.311G>C (p.Ser104Thr) c.-98-20886G>C (n.-98-20886G>C) n.4974G>C n.5015G>C	dbSNP
17	g.43071076C>T	CA10591848	BRCA1	c.4835G>A (p.Ser1612Asn) c.4838G>A (p.Ser1613Asn) c.4712G>A (p.Ser1571Asn) c.4832G>A (p.Ser1611Asn) c.4760G>A (p.Ser1587Asn) c.1526G>A (p.Ser509Asn) c.1388G>A (p.Ser463Asn) c.3950G>A (p.Ser1317Asn) c.4715G>A (p.Ser1572Asn) c.4904G>A (p.Ser1635Asn) c.4697G>A (p.Ser1566Asn) c.1400G>A (p.Ser467Asn) c.1445G>A (p.Ser482Asn) c.4901G>A (p.Ser1634Asn) c.1225G>A c.1412G>A (p.Ser471Asn) c.4621G>A (n.4621G>A) c.1151G>A (p.Ser384Asn) c.5-7125G>A (n.5-7125G>A) c.311G>A (p.Ser104Asn) c.-98-20886G>A (n.-98-20886G>A) n.4974G>A n.5015G>A	ClinVar dbSNP gnomAD v4
17	g.43071076dup	CA2499224394	BRCA1	c.4835dup (p.Ser1612ArgfsTer9) c.4838dup (p.Ser1613ArgfsTer9) c.4712dup (p.Ser1571ArgfsTer9) c.4832dup (p.Ser1611ArgfsTer9) c.4760dup (p.Ser1587ArgfsTer9) c.1526dup (p.Ser509ArgfsTer9) c.1388dup (p.Ser463ArgfsTer9) c.3950dup (p.Ser1317ArgfsTer9) c.4715dup (p.Ser1572ArgfsTer9) c.4904dup (p.Ser1635ArgfsTer9) c.4697dup (p.Ser1566ArgfsTer9) c.1400dup (p.Ser467ArgfsTer9) c.1445dup (p.Ser482ArgfsTer9) c.4901dup (p.Ser1634ArgfsTer9) c.1225dup c.1412dup (p.Ser471ArgfsTer9) c.4621dup (n.4621dup) c.1151dup (p.Ser384ArgfsTer9) c.5-7125dup (n.5-7125dup) c.311dup (p.Ser104ArgfsTer9) c.-98-20886dup (n.-98-20886dup) n.4974dup n.5015dup
17	g.43071076_43071077delinsCT	CA2260772892	BRCA1	c.4834_4835delinsAG (p.Ser1612=) c.4837_4838delinsAG (p.Ser1613=) c.4711_4712delinsAG (p.Ser1571=) c.4831_4832delinsAG (p.Ser1611=) c.4759_4760delinsAG (p.Ser1587=) c.1525_1526delinsAG (p.Ser509=) c.1387_1388delinsAG (p.Ser463=) c.3949_3950delinsAG (p.Ser1317=) c.4714_4715delinsAG (p.Ser1572=) c.4903_4904delinsAG (p.Ser1635=) c.4696_4697delinsAG (p.Ser1566=) c.1399_1400delinsAG (p.Ser467=) c.1444_1445delinsAG (p.Ser482=) c.4900_4901delinsAG (p.Ser1634=) c.1224_1225delinsAG c.1411_1412delinsAG (p.Ser471=) c.4620_4621delinsAG (n.4620_4621delinsAG) c.1150_1151delinsAG (p.Ser384=) c.5-7126_5-7125delinsAG (n.5-7126_5-7125delinsAG) c.310_311delinsAG (p.Ser104=) c.-98-20887_-98-20886delinsAG (n.-98-20887_-98-20886delinsAG) n.4973_4974delinsAG n.5014_5015delinsAG
17	g.43071076_43071077delinsTC	CA913188824	BRCA1	c.4834_4835delinsGA (p.Ser1612Asp) c.4837_4838delinsGA (p.Ser1613Asp) c.4711_4712delinsGA (p.Ser1571Asp) c.4831_4832delinsGA (p.Ser1611Asp) c.4759_4760delinsGA (p.Ser1587Asp) c.1525_1526delinsGA (p.Ser509Asp) c.1387_1388delinsGA (p.Ser463Asp) c.3949_3950delinsGA (p.Ser1317Asp) c.4714_4715delinsGA (p.Ser1572Asp) c.4903_4904delinsGA (p.Ser1635Asp) c.4696_4697delinsGA (p.Ser1566Asp) c.1399_1400delinsGA (p.Ser467Asp) c.1444_1445delinsGA (p.Ser482Asp) c.4900_4901delinsGA (p.Ser1634Asp) c.1224_1225delinsGA c.1411_1412delinsGA (p.Ser471Asp) c.4620_4621delinsGA (n.4620_4621delinsGA) c.1150_1151delinsGA (p.Ser384Asp) c.5-7126_5-7125delinsGA (n.5-7126_5-7125delinsGA) c.310_311delinsGA (p.Ser104Asp) c.-98-20887_-98-20886delinsGA (n.-98-20887_-98-20886delinsGA) n.4973_4974delinsGA n.5014_5015delinsGA	ClinVar dbSNP
17	g.43071076_43071077delinsGGC	CA003043	BRCA1	c.4834_4835delinsGCC (p.Ser1612AlafsTer9) c.4837_4838delinsGCC (p.Ser1613AlafsTer9) c.4711_4712delinsGCC (p.Ser1571AlafsTer9) c.4831_4832delinsGCC (p.Ser1611AlafsTer9) c.4759_4760delinsGCC (p.Ser1587AlafsTer9) c.1525_1526delinsGCC (p.Ser509AlafsTer9) c.1387_1388delinsGCC (p.Ser463AlafsTer9) c.3949_3950delinsGCC (p.Ser1317AlafsTer9) c.4714_4715delinsGCC (p.Ser1572AlafsTer9) c.4903_4904delinsGCC (p.Ser1635AlafsTer9) c.4696_4697delinsGCC (p.Ser1566AlafsTer9) c.1399_1400delinsGCC (p.Ser467AlafsTer9) c.1444_1445delinsGCC (p.Ser482AlafsTer9) c.4900_4901delinsGCC (p.Ser1634AlafsTer9) c.1224_1225delinsGCC c.1411_1412delinsGCC (p.Ser471AlafsTer9) c.4620_4621delinsGCC (n.4620_4621delinsGCC) c.1150_1151delinsGCC (p.Ser384AlafsTer9) c.5-7126_5-7125delinsGCC (n.5-7126_5-7125delinsGCC) c.310_311delinsGCC (p.Ser104AlafsTer9) c.-98-20887_-98-20886delinsGCC (n.-98-20887_-98-20886delinsGCC) n.4973_4974delinsGCC n.5014_5015delinsGCC	ClinVar dbSNP
17	g.43071077del	CA003046	BRCA1	c.4834del (p.Ser1612ValfsTer20) c.4837del (p.Ser1613ValfsTer20) c.4711del (p.Ser1571ValfsTer20) c.4831del (p.Ser1611ValfsTer20) c.4759del (p.Ser1587ValfsTer20) c.1525del (p.Ser509ValfsTer20) c.1387del (p.Ser463ValfsTer20) c.3949del (p.Ser1317ValfsTer20) c.4714del (p.Ser1572ValfsTer20) c.4903del (p.Ser1635ValfsTer20) c.4696del (p.Ser1566ValfsTer20) c.1399del (p.Ser467ValfsTer20) c.1444del (p.Ser482ValfsTer20) c.4900del (p.Ser1634ValfsTer20) c.1224del c.1411del (p.Ser471ValfsTer20) c.4620del (n.4620del) c.1150del (p.Ser384ValfsTer20) c.5-7126del (n.5-7126del) c.310del (p.Ser104ValfsTer20) c.-98-20887del (n.-98-20887del) n.4973del n.5014del	ClinVar dbSNP gnomAD v4
17	g.43071077T>A	CA003045	BRCA1	c.4834A>T (p.Ser1612Cys) c.4837A>T (p.Ser1613Cys) c.4711A>T (p.Ser1571Cys) c.4831A>T (p.Ser1611Cys) c.4759A>T (p.Ser1587Cys) c.1525A>T (p.Ser509Cys) c.1387A>T (p.Ser463Cys) c.3949A>T (p.Ser1317Cys) c.4714A>T (p.Ser1572Cys) c.4903A>T (p.Ser1635Cys) c.4696A>T (p.Ser1566Cys) c.1399A>T (p.Ser467Cys) c.1444A>T (p.Ser482Cys) c.4900A>T (p.Ser1634Cys) c.1224A>T c.1411A>T (p.Ser471Cys) c.4620A>T (n.4620A>T) c.1150A>T (p.Ser384Cys) c.5-7126A>T (n.5-7126A>T) c.310A>T (p.Ser104Cys) c.-98-20887A>T (n.-98-20887A>T) n.4973A>T n.5014A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071077T>C	CA003044	BRCA1	c.4834A>G (p.Ser1612Gly) c.4837A>G (p.Ser1613Gly) c.4711A>G (p.Ser1571Gly) c.4831A>G (p.Ser1611Gly) c.4759A>G (p.Ser1587Gly) c.1525A>G (p.Ser509Gly) c.1387A>G (p.Ser463Gly) c.3949A>G (p.Ser1317Gly) c.4714A>G (p.Ser1572Gly) c.4903A>G (p.Ser1635Gly) c.4696A>G (p.Ser1566Gly) c.1399A>G (p.Ser467Gly) c.1444A>G (p.Ser482Gly) c.4900A>G (p.Ser1634Gly) c.1224A>G c.1411A>G (p.Ser471Gly) c.4620A>G (n.4620A>G) c.1150A>G (p.Ser384Gly) c.5-7126A>G (n.5-7126A>G) c.310A>G (p.Ser104Gly) c.-98-20887A>G (n.-98-20887A>G) n.4973A>G n.5014A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071077T>G	CA10591849	BRCA1	c.4834A>C (p.Ser1612Arg) c.4837A>C (p.Ser1613Arg) c.4711A>C (p.Ser1571Arg) c.4831A>C (p.Ser1611Arg) c.4759A>C (p.Ser1587Arg) c.1525A>C (p.Ser509Arg) c.1387A>C (p.Ser463Arg) c.3949A>C (p.Ser1317Arg) c.4714A>C (p.Ser1572Arg) c.4903A>C (p.Ser1635Arg) c.4696A>C (p.Ser1566Arg) c.1399A>C (p.Ser467Arg) c.1444A>C (p.Ser482Arg) c.4900A>C (p.Ser1634Arg) c.1224A>C c.1411A>C (p.Ser471Arg) c.4620A>C (n.4620A>C) c.1150A>C (p.Ser384Arg) c.5-7126A>C (n.5-7126A>C) c.310A>C (p.Ser104Arg) c.-98-20887A>C (n.-98-20887A>C) n.4973A>C n.5014A>C	ClinVar dbSNP
17	g.43071077T=	CA2260772894	BRCA1	c.4834A= (p.Ser1612=) c.4837A= (p.Ser1613=) c.4711A= (p.Ser1571=) c.4831A= (p.Ser1611=) c.4759A= (p.Ser1587=) c.1525A= (p.Ser509=) c.1387A= (p.Ser463=) c.3949A= (p.Ser1317=) c.4714A= (p.Ser1572=) c.4903A= (p.Ser1635=) c.4696A= (p.Ser1566=) c.1399A= (p.Ser467=) c.1444A= (p.Ser482=) c.4900A= (p.Ser1634=) c.1224A= c.1411A= (p.Ser471=) c.4620A= (n.4620A=) c.1150A= (p.Ser384=) c.5-7126A= (n.5-7126A=) c.310A= (p.Ser104=) c.-98-20887A= (n.-98-20887A=) n.4973A= n.5014A=
17	g.43071077_43071078delinsCG	CA2825002514	BRCA1	c.4833_4834delinsCG (p.Gln1611_Ser1612delinsHisGly) c.4836_4837delinsCG (p.Gln1612_Ser1613delinsHisGly) c.4710_4711delinsCG (p.Gln1570_Ser1571delinsHisGly) c.4830_4831delinsCG (p.Gln1610_Ser1611delinsHisGly) c.4758_4759delinsCG (p.Gln1586_Ser1587delinsHisGly) c.1524_1525delinsCG (p.Gln508_Ser509delinsHisGly) c.1386_1387delinsCG (p.Gln462_Ser463delinsHisGly) c.3948_3949delinsCG (p.Gln1316_Ser1317delinsHisGly) c.4713_4714delinsCG (p.Gln1571_Ser1572delinsHisGly) c.4902_4903delinsCG (p.Gln1634_Ser1635delinsHisGly) c.4695_4696delinsCG (p.Gln1565_Ser1566delinsHisGly) c.1398_1399delinsCG (p.Gln466_Ser467delinsHisGly) c.1443_1444delinsCG (p.Gln481_Ser482delinsHisGly) c.4899_4900delinsCG (p.Gln1633_Ser1634delinsHisGly) c.1223_1224delinsCG c.1410_1411delinsCG (p.Gln470_Ser471delinsHisGly) c.4619_4620delinsCG (n.4619_4620delinsCG) c.1149_1150delinsCG (p.Gln383_Ser384delinsHisGly) c.5-7127_5-7126delinsCG (n.5-7127_5-7126delinsCG) c.309_310delinsCG (p.Gln103_Ser104delinsHisGly) c.-98-20888_-98-20887delinsCG (n.-98-20888_-98-20887delinsCG) n.4972_4973delinsCG n.5013_5014delinsCG	ClinVar
17	g.43071078C>A	CA053308	BRCA1	c.4833G>T (p.Gln1611His) c.4836G>T (p.Gln1612His) c.4710G>T (p.Gln1570His) c.4830G>T (p.Gln1610His) c.4758G>T (p.Gln1586His) c.1524G>T (p.Gln508His) c.1386G>T (p.Gln462His) c.3948G>T (p.Gln1316His) c.4713G>T (p.Gln1571His) c.4902G>T (p.Gln1634His) c.4695G>T (p.Gln1565His) c.1398G>T (p.Gln466His) c.1443G>T (p.Gln481His) c.4899G>T (p.Gln1633His) c.1223G>T c.1410G>T (p.Gln470His) c.4619G>T (n.4619G>T) c.1149G>T (p.Gln383His) c.5-7127G>T (n.5-7127G>T) c.309G>T (p.Gln103His) c.-98-20888G>T (n.-98-20888G>T) n.4972G>T n.5013G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071078C=	CA2260772896	BRCA1	c.4833G= (p.Gln1611=) c.4836G= (p.Gln1612=) c.4710G= (p.Gln1570=) c.4830G= (p.Gln1610=) c.4758G= (p.Gln1586=) c.1524G= (p.Gln508=) c.1386G= (p.Gln462=) c.3948G= (p.Gln1316=) c.4713G= (p.Gln1571=) c.4902G= (p.Gln1634=) c.4695G= (p.Gln1565=) c.1398G= (p.Gln466=) c.1443G= (p.Gln481=) c.4899G= (p.Gln1633=) c.1223G= c.1410G= (p.Gln470=) c.4619G= (n.4619G=) c.1149G= (p.Gln383=) c.5-7127G= (n.5-7127G=) c.309G= (p.Gln103=) c.-98-20888G= (n.-98-20888G=) n.4972G= n.5013G=
17	g.43071078C>G	CA003042	BRCA1	c.4833G>C (p.Gln1611His) c.4836G>C (p.Gln1612His) c.4710G>C (p.Gln1570His) c.4830G>C (p.Gln1610His) c.4758G>C (p.Gln1586His) c.1524G>C (p.Gln508His) c.1386G>C (p.Gln462His) c.3948G>C (p.Gln1316His) c.4713G>C (p.Gln1571His) c.4902G>C (p.Gln1634His) c.4695G>C (p.Gln1565His) c.1398G>C (p.Gln466His) c.1443G>C (p.Gln481His) c.4899G>C (p.Gln1633His) c.1223G>C c.1410G>C (p.Gln470His) c.4619G>C (n.4619G>C) c.1149G>C (p.Gln383His) c.5-7127G>C (n.5-7127G>C) c.309G>C (p.Gln103His) c.-98-20888G>C (n.-98-20888G>C) n.4972G>C n.5013G>C	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.43071078C>T	CA500231808	BRCA1	c.4833G>A (p.Gln1611=) c.4836G>A (p.Gln1612=) c.4710G>A (p.Gln1570=) c.4830G>A (p.Gln1610=) c.4758G>A (p.Gln1586=) c.1524G>A (p.Gln508=) c.1386G>A (p.Gln462=) c.3948G>A (p.Gln1316=) c.4713G>A (p.Gln1571=) c.4902G>A (p.Gln1634=) c.4695G>A (p.Gln1565=) c.1398G>A (p.Gln466=) c.1443G>A (p.Gln481=) c.4899G>A (p.Gln1633=) c.1223G>A c.1410G>A (p.Gln470=) c.4619G>A (n.4619G>A) c.1149G>A (p.Gln383=) c.5-7127G>A (n.5-7127G>A) c.309G>A (p.Gln103=) c.-98-20888G>A (n.-98-20888G>A) n.4972G>A n.5013G>A	ClinVar dbSNP
17	g.43071078dup	CA327949	BRCA1	c.4833dup (p.Ser1612GlufsTer9) c.4836dup (p.Ser1613GlufsTer9) c.4710dup (p.Ser1571GlufsTer9) c.4830dup (p.Ser1611GlufsTer9) c.4758dup (p.Ser1587GlufsTer9) c.1524dup (p.Ser509GlufsTer9) c.1386dup (p.Ser463GlufsTer9) c.3948dup (p.Ser1317GlufsTer9) c.4713dup (p.Ser1572GlufsTer9) c.4902dup (p.Ser1635GlufsTer9) c.4695dup (p.Ser1566GlufsTer9) c.1398dup (p.Ser467GlufsTer9) c.1443dup (p.Ser482GlufsTer9) c.4899dup (p.Ser1634GlufsTer9) c.1223dup c.1410dup (p.Ser471GlufsTer9) c.4619dup (n.4619dup) c.1149dup (p.Ser384GlufsTer9) c.5-7127dup (n.5-7127dup) c.309dup (p.Ser104GlufsTer9) c.-98-20888dup (n.-98-20888dup) n.4972dup n.5013dup	ClinVar dbSNP
17	g.43071078_43071080delinsCTG	CA2260772895	BRCA1	c.4831_4833delinsCAG (p.Gln1611=) c.4834_4836delinsCAG (p.Gln1612=) c.4708_4710delinsCAG (p.Gln1570=) c.4828_4830delinsCAG (p.Gln1610=) c.4756_4758delinsCAG (p.Gln1586=) c.1522_1524delinsCAG (p.Gln508=) c.1384_1386delinsCAG (p.Gln462=) c.3946_3948delinsCAG (p.Gln1316=) c.4711_4713delinsCAG (p.Gln1571=) c.4900_4902delinsCAG (p.Gln1634=) c.4693_4695delinsCAG (p.Gln1565=) c.1396_1398delinsCAG (p.Gln466=) c.1441_1443delinsCAG (p.Gln481=) c.4897_4899delinsCAG (p.Gln1633=) c.1221_1223delinsCAG c.1408_1410delinsCAG (p.Gln470=) c.4617_4619delinsCAG (n.4617_4619delinsCAG) c.1147_1149delinsCAG (p.Gln383=) c.5-7129_5-7127delinsCAG (n.5-7129_5-7127delinsCAG) c.307_309delinsCAG (p.Gln103=) c.-98-20890_-98-20888delinsCAG (n.-98-20890_-98-20888delinsCAG) n.4970_4972delinsCAG n.5011_5013delinsCAG
17	g.43071079T>A	CA10591850	BRCA1	c.4832A>T (p.Gln1611Leu) c.4835A>T (p.Gln1612Leu) c.4709A>T (p.Gln1570Leu) c.4829A>T (p.Gln1610Leu) c.4757A>T (p.Gln1586Leu) c.1523A>T (p.Gln508Leu) c.1385A>T (p.Gln462Leu) c.3947A>T (p.Gln1316Leu) c.4712A>T (p.Gln1571Leu) c.4901A>T (p.Gln1634Leu) c.4694A>T (p.Gln1565Leu) c.1397A>T (p.Gln466Leu) c.1442A>T (p.Gln481Leu) c.4898A>T (p.Gln1633Leu) c.1222A>T c.1409A>T (p.Gln470Leu) c.4618A>T (n.4618A>T) c.1148A>T (p.Gln383Leu) c.5-7128A>T (n.5-7128A>T) c.308A>T (p.Gln103Leu) c.-98-20889A>T (n.-98-20889A>T) n.4971A>T n.5012A>T	ClinVar dbSNP
17	g.43071079T>C	CA10591851	BRCA1	c.4832A>G (p.Gln1611Arg) c.4835A>G (p.Gln1612Arg) c.4709A>G (p.Gln1570Arg) c.4829A>G (p.Gln1610Arg) c.4757A>G (p.Gln1586Arg) c.1523A>G (p.Gln508Arg) c.1385A>G (p.Gln462Arg) c.3947A>G (p.Gln1316Arg) c.4712A>G (p.Gln1571Arg) c.4901A>G (p.Gln1634Arg) c.4694A>G (p.Gln1565Arg) c.1397A>G (p.Gln466Arg) c.1442A>G (p.Gln481Arg) c.4898A>G (p.Gln1633Arg) c.1222A>G c.1409A>G (p.Gln470Arg) c.4618A>G (n.4618A>G) c.1148A>G (p.Gln383Arg) c.5-7128A>G (n.5-7128A>G) c.308A>G (p.Gln103Arg) c.-98-20889A>G (n.-98-20889A>G) n.4971A>G n.5012A>G	ClinVar
17	g.43071079T>G	CA10591852	BRCA1	c.4832A>C (p.Gln1611Pro) c.4835A>C (p.Gln1612Pro) c.4709A>C (p.Gln1570Pro) c.4829A>C (p.Gln1610Pro) c.4757A>C (p.Gln1586Pro) c.1523A>C (p.Gln508Pro) c.1385A>C (p.Gln462Pro) c.3947A>C (p.Gln1316Pro) c.4712A>C (p.Gln1571Pro) c.4901A>C (p.Gln1634Pro) c.4694A>C (p.Gln1565Pro) c.1397A>C (p.Gln466Pro) c.1442A>C (p.Gln481Pro) c.4898A>C (p.Gln1633Pro) c.1222A>C c.1409A>C (p.Gln470Pro) c.4618A>C (n.4618A>C) c.1148A>C (p.Gln383Pro) c.5-7128A>C (n.5-7128A>C) c.308A>C (p.Gln103Pro) c.-98-20889A>C (n.-98-20889A>C) n.4971A>C n.5012A>C
17	g.43071079T=	CA2260772898	BRCA1	c.4832A= (p.Gln1611=) c.4835A= (p.Gln1612=) c.4709A= (p.Gln1570=) c.4829A= (p.Gln1610=) c.4757A= (p.Gln1586=) c.1523A= (p.Gln508=) c.1385A= (p.Gln462=) c.3947A= (p.Gln1316=) c.4712A= (p.Gln1571=) c.4901A= (p.Gln1634=) c.4694A= (p.Gln1565=) c.1397A= (p.Gln466=) c.1442A= (p.Gln481=) c.4898A= (p.Gln1633=) c.1222A= c.1409A= (p.Gln470=) c.4618A= (n.4618A=) c.1148A= (p.Gln383=) c.5-7128A= (n.5-7128A=) c.308A= (p.Gln103=) c.-98-20889A= (n.-98-20889A=) n.4971A= n.5012A=
17	g.43071079_43071080del	CA658653684	BRCA1	c.4831_4832del (p.Gln1611GlufsTer9) c.4834_4835del (p.Gln1612GlufsTer9) c.4708_4709del (p.Gln1570GlufsTer9) c.4828_4829del (p.Gln1610GlufsTer9) c.4756_4757del (p.Gln1586GlufsTer9) c.1522_1523del (p.Gln508GlufsTer9) c.1384_1385del (p.Gln462GlufsTer9) c.3946_3947del (p.Gln1316GlufsTer9) c.4711_4712del (p.Gln1571GlufsTer9) c.4900_4901del (p.Gln1634GlufsTer9) c.4693_4694del (p.Gln1565GlufsTer9) c.1396_1397del (p.Gln466GlufsTer9) c.1441_1442del (p.Gln481GlufsTer9) c.4897_4898del (p.Gln1633GlufsTer9) c.1221_1222del c.1408_1409del (p.Gln470GlufsTer9) c.4617_4618del (n.4617_4618del) c.1147_1148del (p.Gln383GlufsTer9) c.5-7129_5-7128del (n.5-7129_5-7128del) c.307_308del (p.Gln103GlufsTer9) c.-98-20890_-98-20889del (n.-98-20890_-98-20889del) n.4970_4971del n.5011_5012del	ClinVar dbSNP
17	g.43071079_43071080delinsTG	CA2260772897	BRCA1	c.4831_4832delinsCA (p.Gln1611=) c.4834_4835delinsCA (p.Gln1612=) c.4708_4709delinsCA (p.Gln1570=) c.4828_4829delinsCA (p.Gln1610=) c.4756_4757delinsCA (p.Gln1586=) c.1522_1523delinsCA (p.Gln508=) c.1384_1385delinsCA (p.Gln462=) c.3946_3947delinsCA (p.Gln1316=) c.4711_4712delinsCA (p.Gln1571=) c.4900_4901delinsCA (p.Gln1634=) c.4693_4694delinsCA (p.Gln1565=) c.1396_1397delinsCA (p.Gln466=) c.1441_1442delinsCA (p.Gln481=) c.4897_4898delinsCA (p.Gln1633=) c.1221_1222delinsCA c.1408_1409delinsCA (p.Gln470=) c.4617_4618delinsCA (n.4617_4618delinsCA) c.1147_1148delinsCA (p.Gln383=) c.5-7129_5-7128delinsCA (n.5-7129_5-7128delinsCA) c.307_308delinsCA (p.Gln103=) c.-98-20890_-98-20889delinsCA (n.-98-20890_-98-20889delinsCA) n.4970_4971delinsCA n.5011_5012delinsCA
17	g.43071080G>A	CA003041	BRCA1	c.4831C>T (p.Gln1611Ter) c.4834C>T (p.Gln1612Ter) c.4708C>T (p.Gln1570Ter) c.4828C>T (p.Gln1610Ter) c.4756C>T (p.Gln1586Ter) c.1522C>T (p.Gln508Ter) c.1384C>T (p.Gln462Ter) c.3946C>T (p.Gln1316Ter) c.4711C>T (p.Gln1571Ter) c.4900C>T (p.Gln1634Ter) c.4693C>T (p.Gln1565Ter) c.1396C>T (p.Gln466Ter) c.1441C>T (p.Gln481Ter) c.4897C>T (p.Gln1633Ter) c.1221C>T c.1408C>T (p.Gln470Ter) c.4617C>T (n.4617C>T) c.1147C>T (p.Gln383Ter) c.5-7129C>T (n.5-7129C>T) c.307C>T (p.Gln103Ter) c.-98-20890C>T (n.-98-20890C>T) n.4970C>T n.5011C>T	ClinVar dbSNP
17	g.43071080G>C	CA10591853	BRCA1	c.4831C>G (p.Gln1611Glu) c.4834C>G (p.Gln1612Glu) c.4708C>G (p.Gln1570Glu) c.4828C>G (p.Gln1610Glu) c.4756C>G (p.Gln1586Glu) c.1522C>G (p.Gln508Glu) c.1384C>G (p.Gln462Glu) c.3946C>G (p.Gln1316Glu) c.4711C>G (p.Gln1571Glu) c.4900C>G (p.Gln1634Glu) c.4693C>G (p.Gln1565Glu) c.1396C>G (p.Gln466Glu) c.1441C>G (p.Gln481Glu) c.4897C>G (p.Gln1633Glu) c.1221C>G c.1408C>G (p.Gln470Glu) c.4617C>G (n.4617C>G) c.1147C>G (p.Gln383Glu) c.5-7129C>G (n.5-7129C>G) c.307C>G (p.Gln103Glu) c.-98-20890C>G (n.-98-20890C>G) n.4970C>G n.5011C>G	dbSNP
17	g.43071080G=	CA2260772899	BRCA1	c.4831C= (p.Gln1611=) c.4834C= (p.Gln1612=) c.4708C= (p.Gln1570=) c.4828C= (p.Gln1610=) c.4756C= (p.Gln1586=) c.1522C= (p.Gln508=) c.1384C= (p.Gln462=) c.3946C= (p.Gln1316=) c.4711C= (p.Gln1571=) c.4900C= (p.Gln1634=) c.4693C= (p.Gln1565=) c.1396C= (p.Gln466=) c.1441C= (p.Gln481=) c.4897C= (p.Gln1633=) c.1221C= c.1408C= (p.Gln470=) c.4617C= (n.4617C=) c.1147C= (p.Gln383=) c.5-7129C= (n.5-7129C=) c.307C= (p.Gln103=) c.-98-20890C= (n.-98-20890C=) n.4970C= n.5011C=
17	g.43071080G>T	CA10591854	BRCA1	c.4831C>A (p.Gln1611Lys) c.4834C>A (p.Gln1612Lys) c.4708C>A (p.Gln1570Lys) c.4828C>A (p.Gln1610Lys) c.4756C>A (p.Gln1586Lys) c.1522C>A (p.Gln508Lys) c.1384C>A (p.Gln462Lys) c.3946C>A (p.Gln1316Lys) c.4711C>A (p.Gln1571Lys) c.4900C>A (p.Gln1634Lys) c.4693C>A (p.Gln1565Lys) c.1396C>A (p.Gln466Lys) c.1441C>A (p.Gln481Lys) c.4897C>A (p.Gln1633Lys) c.1221C>A c.1408C>A (p.Gln470Lys) c.4617C>A (n.4617C>A) c.1147C>A (p.Gln383Lys) c.5-7129C>A (n.5-7129C>A) c.307C>A (p.Gln103Lys) c.-98-20890C>A (n.-98-20890C>A) n.4970C>A n.5011C>A	dbSNP
17	g.43071082del	CA10589643	BRCA1	c.4831del (p.Gln1611ArgfsTer21) c.4834del (p.Gln1612ArgfsTer21) c.4708del (p.Gln1570ArgfsTer21) c.4828del (p.Gln1610ArgfsTer21) c.4756del (p.Gln1586ArgfsTer21) c.1522del (p.Gln508ArgfsTer21) c.1384del (p.Gln462ArgfsTer21) c.3946del (p.Gln1316ArgfsTer21) c.4711del (p.Gln1571ArgfsTer21) c.4900del (p.Gln1634ArgfsTer21) c.4693del (p.Gln1565ArgfsTer21) c.1396del (p.Gln466ArgfsTer21) c.1441del (p.Gln481ArgfsTer21) c.4897del (p.Gln1633ArgfsTer21) c.1221del c.1408del (p.Gln470ArgfsTer21) c.4617del (n.4617del) c.1147del (p.Gln383ArgfsTer21) c.5-7129del (n.5-7129del) c.307del (p.Gln103ArgfsTer21) c.-98-20890del (n.-98-20890del) n.4970del n.5011del	ClinVar dbSNP
17	g.43071081G>A	CA003040	BRCA1	c.4830C>T (p.Ala1610=) c.4833C>T (p.Ala1611=) c.4707C>T (p.Ala1569=) c.4827C>T (p.Ala1609=) c.4755C>T (p.Ala1585=) c.1521C>T (p.Ala507=) c.1383C>T (p.Ala461=) c.3945C>T (p.Ala1315=) c.4710C>T (p.Ala1570=) c.4899C>T (p.Ala1633=) c.4692C>T (p.Ala1564=) c.1395C>T (p.Ala465=) c.1440C>T (p.Ala480=) c.4896C>T (p.Ala1632=) c.1220C>T c.1407C>T (p.Ala469=) c.4616C>T (n.4616C>T) c.1146C>T (p.Ala382=) c.5-7130C>T (n.5-7130C>T) c.306C>T (p.Ala102=) c.-98-20891C>T (n.-98-20891C>T) n.4969C>T n.5010C>T	ClinVar dbSNP
17	g.43071081G>C	CA500231809	BRCA1	c.4830C>G (p.Ala1610=) c.4833C>G (p.Ala1611=) c.4707C>G (p.Ala1569=) c.4827C>G (p.Ala1609=) c.4755C>G (p.Ala1585=) c.1521C>G (p.Ala507=) c.1383C>G (p.Ala461=) c.3945C>G (p.Ala1315=) c.4710C>G (p.Ala1570=) c.4899C>G (p.Ala1633=) c.4692C>G (p.Ala1564=) c.1395C>G (p.Ala465=) c.1440C>G (p.Ala480=) c.4896C>G (p.Ala1632=) c.1220C>G c.1407C>G (p.Ala469=) c.4616C>G (n.4616C>G) c.1146C>G (p.Ala382=) c.5-7130C>G (n.5-7130C>G) c.306C>G (p.Ala102=) c.-98-20891C>G (n.-98-20891C>G) n.4969C>G n.5010C>G	dbSNP
17	g.43071081G=	CA2260772900	BRCA1	c.4830C= (p.Ala1610=) c.4833C= (p.Ala1611=) c.4707C= (p.Ala1569=) c.4827C= (p.Ala1609=) c.4755C= (p.Ala1585=) c.1521C= (p.Ala507=) c.1383C= (p.Ala461=) c.3945C= (p.Ala1315=) c.4710C= (p.Ala1570=) c.4899C= (p.Ala1633=) c.4692C= (p.Ala1564=) c.1395C= (p.Ala465=) c.1440C= (p.Ala480=) c.4896C= (p.Ala1632=) c.1220C= c.1407C= (p.Ala469=) c.4616C= (n.4616C=) c.1146C= (p.Ala382=) c.5-7130C= (n.5-7130C=) c.306C= (p.Ala102=) c.-98-20891C= (n.-98-20891C=) n.4969C= n.5010C=
17	g.43071081G>T	CA500231810	BRCA1	c.4830C>A (p.Ala1610=) c.4833C>A (p.Ala1611=) c.4707C>A (p.Ala1569=) c.4827C>A (p.Ala1609=) c.4755C>A (p.Ala1585=) c.1521C>A (p.Ala507=) c.1383C>A (p.Ala461=) c.3945C>A (p.Ala1315=) c.4710C>A (p.Ala1570=) c.4899C>A (p.Ala1633=) c.4692C>A (p.Ala1564=) c.1395C>A (p.Ala465=) c.1440C>A (p.Ala480=) c.4896C>A (p.Ala1632=) c.1220C>A c.1407C>A (p.Ala469=) c.4616C>A (n.4616C>A) c.1146C>A (p.Ala382=) c.5-7130C>A (n.5-7130C>A) c.306C>A (p.Ala102=) c.-98-20891C>A (n.-98-20891C>A) n.4969C>A n.5010C>A	dbSNP
17	g.43071082G>A	CA10591855	BRCA1	c.4829C>T (p.Ala1610Val) c.4832C>T (p.Ala1611Val) c.4706C>T (p.Ala1569Val) c.4826C>T (p.Ala1609Val) c.4754C>T (p.Ala1585Val) c.1520C>T (p.Ala507Val) c.1382C>T (p.Ala461Val) c.3944C>T (p.Ala1315Val) c.4709C>T (p.Ala1570Val) c.4898C>T (p.Ala1633Val) c.4691C>T (p.Ala1564Val) c.1394C>T (p.Ala465Val) c.1439C>T (p.Ala480Val) c.4895C>T (p.Ala1632Val) c.1219C>T c.1406C>T (p.Ala469Val) c.4615C>T (n.4615C>T) c.1145C>T (p.Ala382Val) c.5-7131C>T (n.5-7131C>T) c.305C>T (p.Ala102Val) c.-98-20892C>T (n.-98-20892C>T) n.4968C>T n.5009C>T	ClinVar dbSNP
17	g.43071082G>C	CA10591856	BRCA1	c.4829C>G (p.Ala1610Gly) c.4832C>G (p.Ala1611Gly) c.4706C>G (p.Ala1569Gly) c.4826C>G (p.Ala1609Gly) c.4754C>G (p.Ala1585Gly) c.1520C>G (p.Ala507Gly) c.1382C>G (p.Ala461Gly) c.3944C>G (p.Ala1315Gly) c.4709C>G (p.Ala1570Gly) c.4898C>G (p.Ala1633Gly) c.4691C>G (p.Ala1564Gly) c.1394C>G (p.Ala465Gly) c.1439C>G (p.Ala480Gly) c.4895C>G (p.Ala1632Gly) c.1219C>G c.1406C>G (p.Ala469Gly) c.4615C>G (n.4615C>G) c.1145C>G (p.Ala382Gly) c.5-7131C>G (n.5-7131C>G) c.305C>G (p.Ala102Gly) c.-98-20892C>G (n.-98-20892C>G) n.4968C>G n.5009C>G	dbSNP
17	g.43071082G>T	CA10591857	BRCA1	c.4829C>A (p.Ala1610Asp) c.4832C>A (p.Ala1611Asp) c.4706C>A (p.Ala1569Asp) c.4826C>A (p.Ala1609Asp) c.4754C>A (p.Ala1585Asp) c.1520C>A (p.Ala507Asp) c.1382C>A (p.Ala461Asp) c.3944C>A (p.Ala1315Asp) c.4709C>A (p.Ala1570Asp) c.4898C>A (p.Ala1633Asp) c.4691C>A (p.Ala1564Asp) c.1394C>A (p.Ala465Asp) c.1439C>A (p.Ala480Asp) c.4895C>A (p.Ala1632Asp) c.1219C>A c.1406C>A (p.Ala469Asp) c.4615C>A (n.4615C>A) c.1145C>A (p.Ala382Asp) c.5-7131C>A (n.5-7131C>A) c.305C>A (p.Ala102Asp) c.-98-20892C>A (n.-98-20892C>A) n.4968C>A n.5009C>A	dbSNP
17	g.43071083C>A	CA10591858	BRCA1	c.4828G>T (p.Ala1610Ser) c.4831G>T (p.Ala1611Ser) c.4705G>T (p.Ala1569Ser) c.4825G>T (p.Ala1609Ser) c.4753G>T (p.Ala1585Ser) c.1519G>T (p.Ala507Ser) c.1381G>T (p.Ala461Ser) c.3943G>T (p.Ala1315Ser) c.4708G>T (p.Ala1570Ser) c.4897G>T (p.Ala1633Ser) c.4690G>T (p.Ala1564Ser) c.1393G>T (p.Ala465Ser) c.1438G>T (p.Ala480Ser) c.4894G>T (p.Ala1632Ser) c.1218G>T c.1405G>T (p.Ala469Ser) c.4614G>T (n.4614G>T) c.1144G>T (p.Ala382Ser) c.5-7132G>T (n.5-7132G>T) c.304G>T (p.Ala102Ser) c.-98-20893G>T (n.-98-20893G>T) n.4967G>T n.5008G>T	ClinVar dbSNP
17	g.43071083C=	CA2260772901	BRCA1	c.4828G= (p.Ala1610=) c.4831G= (p.Ala1611=) c.4705G= (p.Ala1569=) c.4825G= (p.Ala1609=) c.4753G= (p.Ala1585=) c.1519G= (p.Ala507=) c.1381G= (p.Ala461=) c.3943G= (p.Ala1315=) c.4708G= (p.Ala1570=) c.4897G= (p.Ala1633=) c.4690G= (p.Ala1564=) c.1393G= (p.Ala465=) c.1438G= (p.Ala480=) c.4894G= (p.Ala1632=) c.1218G= c.1405G= (p.Ala469=) c.4614G= (n.4614G=) c.1144G= (p.Ala382=) c.5-7132G= (n.5-7132G=) c.304G= (p.Ala102=) c.-98-20893G= (n.-98-20893G=) n.4967G= n.5008G=
17	g.43071083C>G	CA10591859	BRCA1	c.4828G>C (p.Ala1610Pro) c.4831G>C (p.Ala1611Pro) c.4705G>C (p.Ala1569Pro) c.4825G>C (p.Ala1609Pro) c.4753G>C (p.Ala1585Pro) c.1519G>C (p.Ala507Pro) c.1381G>C (p.Ala461Pro) c.3943G>C (p.Ala1315Pro) c.4708G>C (p.Ala1570Pro) c.4897G>C (p.Ala1633Pro) c.4690G>C (p.Ala1564Pro) c.1393G>C (p.Ala465Pro) c.1438G>C (p.Ala480Pro) c.4894G>C (p.Ala1632Pro) c.1218G>C c.1405G>C (p.Ala469Pro) c.4614G>C (n.4614G>C) c.1144G>C (p.Ala382Pro) c.5-7132G>C (n.5-7132G>C) c.304G>C (p.Ala102Pro) c.-98-20893G>C (n.-98-20893G>C) n.4967G>C n.5008G>C	dbSNP
17	g.43071083C>T	CA10591860	BRCA1	c.4828G>A (p.Ala1610Thr) c.4831G>A (p.Ala1611Thr) c.4705G>A (p.Ala1569Thr) c.4825G>A (p.Ala1609Thr) c.4753G>A (p.Ala1585Thr) c.1519G>A (p.Ala507Thr) c.1381G>A (p.Ala461Thr) c.3943G>A (p.Ala1315Thr) c.4708G>A (p.Ala1570Thr) c.4897G>A (p.Ala1633Thr) c.4690G>A (p.Ala1564Thr) c.1393G>A (p.Ala465Thr) c.1438G>A (p.Ala480Thr) c.4894G>A (p.Ala1632Thr) c.1218G>A c.1405G>A (p.Ala469Thr) c.4614G>A (n.4614G>A) c.1144G>A (p.Ala382Thr) c.5-7132G>A (n.5-7132G>A) c.304G>A (p.Ala102Thr) c.-98-20893G>A (n.-98-20893G>A) n.4967G>A n.5008G>A	dbSNP gnomAD v3 gnomAD v4
17	g.43071084A=	CA2260772902	BRCA1	c.4827T= (p.Ser1609=) c.4830T= (p.Ser1610=) c.4704T= (p.Ser1568=) c.4824T= (p.Ser1608=) c.4752T= (p.Ser1584=) c.1518T= (p.Ser506=) c.1380T= (p.Ser460=) c.3942T= (p.Ser1314=) c.4707T= (p.Ser1569=) c.4896T= (p.Ser1632=) c.4689T= (p.Ser1563=) c.1392T= (p.Ser464=) c.1437T= (p.Ser479=) c.4893T= (p.Ser1631=) c.1217T= c.1404T= (p.Ser468=) c.4613T= (n.4613T=) c.1143T= (p.Ser381=) c.5-7133T= (n.5-7133T=) c.303T= (p.Ser101=) c.-98-20894T= (n.-98-20894T=) n.4966T= n.5007T=
17	g.43071084A>C	CA500231813	BRCA1	c.4827T>G (p.Ser1609=) c.4830T>G (p.Ser1610=) c.4704T>G (p.Ser1568=) c.4824T>G (p.Ser1608=) c.4752T>G (p.Ser1584=) c.1518T>G (p.Ser506=) c.1380T>G (p.Ser460=) c.3942T>G (p.Ser1314=) c.4707T>G (p.Ser1569=) c.4896T>G (p.Ser1632=) c.4689T>G (p.Ser1563=) c.1392T>G (p.Ser464=) c.1437T>G (p.Ser479=) c.4893T>G (p.Ser1631=) c.1217T>G c.1404T>G (p.Ser468=) c.4613T>G (n.4613T>G) c.1143T>G (p.Ser381=) c.5-7133T>G (n.5-7133T>G) c.303T>G (p.Ser101=) c.-98-20894T>G (n.-98-20894T>G) n.4966T>G n.5007T>G	ClinVar dbSNP
17	g.43071084A>G	CA500231811	BRCA1	c.4827T>C (p.Ser1609=) c.4830T>C (p.Ser1610=) c.4704T>C (p.Ser1568=) c.4824T>C (p.Ser1608=) c.4752T>C (p.Ser1584=) c.1518T>C (p.Ser506=) c.1380T>C (p.Ser460=) c.3942T>C (p.Ser1314=) c.4707T>C (p.Ser1569=) c.4896T>C (p.Ser1632=) c.4689T>C (p.Ser1563=) c.1392T>C (p.Ser464=) c.1437T>C (p.Ser479=) c.4893T>C (p.Ser1631=) c.1217T>C c.1404T>C (p.Ser468=) c.4613T>C (n.4613T>C) c.1143T>C (p.Ser381=) c.5-7133T>C (n.5-7133T>C) c.303T>C (p.Ser101=) c.-98-20894T>C (n.-98-20894T>C) n.4966T>C n.5007T>C	dbSNP gnomAD v4
17	g.43071084A>T	CA500231812	BRCA1	c.4827T>A (p.Ser1609=) c.4830T>A (p.Ser1610=) c.4704T>A (p.Ser1568=) c.4824T>A (p.Ser1608=) c.4752T>A (p.Ser1584=) c.1518T>A (p.Ser506=) c.1380T>A (p.Ser460=) c.3942T>A (p.Ser1314=) c.4707T>A (p.Ser1569=) c.4896T>A (p.Ser1632=) c.4689T>A (p.Ser1563=) c.1392T>A (p.Ser464=) c.1437T>A (p.Ser479=) c.4893T>A (p.Ser1631=) c.1217T>A c.1404T>A (p.Ser468=) c.4613T>A (n.4613T>A) c.1143T>A (p.Ser381=) c.5-7133T>A (n.5-7133T>A) c.303T>A (p.Ser101=) c.-98-20894T>A (n.-98-20894T>A) n.4966T>A n.5007T>A	dbSNP
17	g.43071084_43071085delinsAG	CA2260772903	BRCA1	c.4826_4827delinsCT (p.Ser1609=) c.4829_4830delinsCT (p.Ser1610=) c.4703_4704delinsCT (p.Ser1568=) c.4823_4824delinsCT (p.Ser1608=) c.4751_4752delinsCT (p.Ser1584=) c.1517_1518delinsCT (p.Ser506=) c.1379_1380delinsCT (p.Ser460=) c.3941_3942delinsCT (p.Ser1314=) c.4706_4707delinsCT (p.Ser1569=) c.4895_4896delinsCT (p.Ser1632=) c.4688_4689delinsCT (p.Ser1563=) c.1391_1392delinsCT (p.Ser464=) c.1436_1437delinsCT (p.Ser479=) c.4892_4893delinsCT (p.Ser1631=) c.1216_1217delinsCT c.1403_1404delinsCT (p.Ser468=) c.4612_4613delinsCT (n.4612_4613delinsCT) c.1142_1143delinsCT (p.Ser381=) c.5-7134_5-7133delinsCT (n.5-7134_5-7133delinsCT) c.302_303delinsCT (p.Ser101=) c.-98-20895_-98-20894delinsCT (n.-98-20895_-98-20894delinsCT) n.4965_4966delinsCT n.5006_5007delinsCT
17	g.43071085_43071086del	CA2739265598	BRCA1	c.4826_4827del (p.Ser1609CysfsTer11) c.4829_4830del (p.Ser1610CysfsTer11) c.4703_4704del (p.Ser1568CysfsTer11) c.4823_4824del (p.Ser1608CysfsTer11) c.4751_4752del (p.Ser1584CysfsTer11) c.1517_1518del (p.Ser506CysfsTer11) c.1379_1380del (p.Ser460CysfsTer11) c.3941_3942del (p.Ser1314CysfsTer11) c.4706_4707del (p.Ser1569CysfsTer11) c.4895_4896del (p.Ser1632CysfsTer11) c.4688_4689del (p.Ser1563CysfsTer11) c.1391_1392del (p.Ser464CysfsTer11) c.1436_1437del (p.Ser479CysfsTer11) c.4892_4893del (p.Ser1631CysfsTer11) c.1216_1217del c.1403_1404del (p.Ser468CysfsTer11) c.4612_4613del (n.4612_4613del) c.1142_1143del (p.Ser381CysfsTer11) c.5-7134_5-7133del (n.5-7134_5-7133del) c.302_303del (p.Ser101CysfsTer11) c.-98-20895_-98-20894del (n.-98-20895_-98-20894del) n.4965_4966del n.5006_5007del	ClinVar
17	g.43071085del	CA1139665579	BRCA1	c.4826del (p.Ser1609LeufsTer23) c.4829del (p.Ser1610LeufsTer23) c.4703del (p.Ser1568LeufsTer23) c.4823del (p.Ser1608LeufsTer23) c.4751del (p.Ser1584LeufsTer23) c.1517del (p.Ser506LeufsTer23) c.1379del (p.Ser460LeufsTer23) c.3941del (p.Ser1314LeufsTer23) c.4706del (p.Ser1569LeufsTer23) c.4895del (p.Ser1632LeufsTer23) c.4688del (p.Ser1563LeufsTer23) c.1391del (p.Ser464LeufsTer23) c.1436del (p.Ser479LeufsTer23) c.4892del (p.Ser1631LeufsTer23) c.1216del c.1403del (p.Ser468LeufsTer23) c.4612del (n.4612del) c.1142del (p.Ser381LeufsTer23) c.5-7134del (n.5-7134del) c.302del (p.Ser101LeufsTer23) c.-98-20895del (n.-98-20895del) n.4965del n.5006del	ClinVar dbSNP
17	g.43071085G>A	CA10591861	BRCA1	c.4826C>T (p.Ser1609Phe) c.4829C>T (p.Ser1610Phe) c.4703C>T (p.Ser1568Phe) c.4823C>T (p.Ser1608Phe) c.4751C>T (p.Ser1584Phe) c.1517C>T (p.Ser506Phe) c.1379C>T (p.Ser460Phe) c.3941C>T (p.Ser1314Phe) c.4706C>T (p.Ser1569Phe) c.4895C>T (p.Ser1632Phe) c.4688C>T (p.Ser1563Phe) c.1391C>T (p.Ser464Phe) c.1436C>T (p.Ser479Phe) c.4892C>T (p.Ser1631Phe) c.1216C>T c.1403C>T (p.Ser468Phe) c.4612C>T (n.4612C>T) c.1142C>T (p.Ser381Phe) c.5-7134C>T (n.5-7134C>T) c.302C>T (p.Ser101Phe) c.-98-20895C>T (n.-98-20895C>T) n.4965C>T n.5006C>T	ClinVar dbSNP
17	g.43071085G>C	CA10591862	BRCA1	c.4826C>G (p.Ser1609Cys) c.4829C>G (p.Ser1610Cys) c.4703C>G (p.Ser1568Cys) c.4823C>G (p.Ser1608Cys) c.4751C>G (p.Ser1584Cys) c.1517C>G (p.Ser506Cys) c.1379C>G (p.Ser460Cys) c.3941C>G (p.Ser1314Cys) c.4706C>G (p.Ser1569Cys) c.4895C>G (p.Ser1632Cys) c.4688C>G (p.Ser1563Cys) c.1391C>G (p.Ser464Cys) c.1436C>G (p.Ser479Cys) c.4892C>G (p.Ser1631Cys) c.1216C>G c.1403C>G (p.Ser468Cys) c.4612C>G (n.4612C>G) c.1142C>G (p.Ser381Cys) c.5-7134C>G (n.5-7134C>G) c.302C>G (p.Ser101Cys) c.-98-20895C>G (n.-98-20895C>G) n.4965C>G n.5006C>G	dbSNP
17	g.43071085G=	CA2260772904	BRCA1	c.4826C= (p.Ser1609=) c.4829C= (p.Ser1610=) c.4703C= (p.Ser1568=) c.4823C= (p.Ser1608=) c.4751C= (p.Ser1584=) c.1517C= (p.Ser506=) c.1379C= (p.Ser460=) c.3941C= (p.Ser1314=) c.4706C= (p.Ser1569=) c.4895C= (p.Ser1632=) c.4688C= (p.Ser1563=) c.1391C= (p.Ser464=) c.1436C= (p.Ser479=) c.4892C= (p.Ser1631=) c.1216C= c.1403C= (p.Ser468=) c.4612C= (n.4612C=) c.1142C= (p.Ser381=) c.5-7134C= (n.5-7134C=) c.302C= (p.Ser101=) c.-98-20895C= (n.-98-20895C=) n.4965C= n.5006C=
17	g.43071085G>T	CA10591863	BRCA1	c.4826C>A (p.Ser1609Tyr) c.4829C>A (p.Ser1610Tyr) c.4703C>A (p.Ser1568Tyr) c.4823C>A (p.Ser1608Tyr) c.4751C>A (p.Ser1584Tyr) c.1517C>A (p.Ser506Tyr) c.1379C>A (p.Ser460Tyr) c.3941C>A (p.Ser1314Tyr) c.4706C>A (p.Ser1569Tyr) c.4895C>A (p.Ser1632Tyr) c.4688C>A (p.Ser1563Tyr) c.1391C>A (p.Ser464Tyr) c.1436C>A (p.Ser479Tyr) c.4892C>A (p.Ser1631Tyr) c.1216C>A c.1403C>A (p.Ser468Tyr) c.4612C>A (n.4612C>A) c.1142C>A (p.Ser381Tyr) c.5-7134C>A (n.5-7134C>A) c.302C>A (p.Ser101Tyr) c.-98-20895C>A (n.-98-20895C>A) n.4965C>A n.5006C>A	dbSNP
17	g.43071086A>C	CA10591864	BRCA1	c.4825T>G (p.Ser1609Ala) c.4828T>G (p.Ser1610Ala) c.4702T>G (p.Ser1568Ala) c.4822T>G (p.Ser1608Ala) c.4750T>G (p.Ser1584Ala) c.1516T>G (p.Ser506Ala) c.1378T>G (p.Ser460Ala) c.3940T>G (p.Ser1314Ala) c.4705T>G (p.Ser1569Ala) c.4894T>G (p.Ser1632Ala) c.4687T>G (p.Ser1563Ala) c.1390T>G (p.Ser464Ala) c.1435T>G (p.Ser479Ala) c.4891T>G (p.Ser1631Ala) c.1215T>G c.1402T>G (p.Ser468Ala) c.4611T>G (n.4611T>G) c.1141T>G (p.Ser381Ala) c.5-7135T>G (n.5-7135T>G) c.301T>G (p.Ser101Ala) c.-98-20896T>G (n.-98-20896T>G) n.4964T>G n.5005T>G
17	g.43071086A>G	CA10591865	BRCA1	c.4825T>C (p.Ser1609Pro) c.4828T>C (p.Ser1610Pro) c.4702T>C (p.Ser1568Pro) c.4822T>C (p.Ser1608Pro) c.4750T>C (p.Ser1584Pro) c.1516T>C (p.Ser506Pro) c.1378T>C (p.Ser460Pro) c.3940T>C (p.Ser1314Pro) c.4705T>C (p.Ser1569Pro) c.4894T>C (p.Ser1632Pro) c.4687T>C (p.Ser1563Pro) c.1390T>C (p.Ser464Pro) c.1435T>C (p.Ser479Pro) c.4891T>C (p.Ser1631Pro) c.1215T>C c.1402T>C (p.Ser468Pro) c.4611T>C (n.4611T>C) c.1141T>C (p.Ser381Pro) c.5-7135T>C (n.5-7135T>C) c.301T>C (p.Ser101Pro) c.-98-20896T>C (n.-98-20896T>C) n.4964T>C n.5005T>C	dbSNP
17	g.43071086A>T	CA10591866	BRCA1	c.4825T>A (p.Ser1609Thr) c.4828T>A (p.Ser1610Thr) c.4702T>A (p.Ser1568Thr) c.4822T>A (p.Ser1608Thr) c.4750T>A (p.Ser1584Thr) c.1516T>A (p.Ser506Thr) c.1378T>A (p.Ser460Thr) c.3940T>A (p.Ser1314Thr) c.4705T>A (p.Ser1569Thr) c.4894T>A (p.Ser1632Thr) c.4687T>A (p.Ser1563Thr) c.1390T>A (p.Ser464Thr) c.1435T>A (p.Ser479Thr) c.4891T>A (p.Ser1631Thr) c.1215T>A c.1402T>A (p.Ser468Thr) c.4611T>A (n.4611T>A) c.1141T>A (p.Ser381Thr) c.5-7135T>A (n.5-7135T>A) c.301T>A (p.Ser101Thr) c.-98-20896T>A (n.-98-20896T>A) n.4964T>A n.5005T>A	dbSNP
17	g.43071086dup	CA658656620	BRCA1	c.4825dup (p.Ser1609PhefsTer12) c.4828dup (p.Ser1610PhefsTer12) c.4702dup (p.Ser1568PhefsTer12) c.4822dup (p.Ser1608PhefsTer12) c.4750dup (p.Ser1584PhefsTer12) c.1516dup (p.Ser506PhefsTer12) c.1378dup (p.Ser460PhefsTer12) c.3940dup (p.Ser1314PhefsTer12) c.4705dup (p.Ser1569PhefsTer12) c.4894dup (p.Ser1632PhefsTer12) c.4687dup (p.Ser1563PhefsTer12) c.1390dup (p.Ser464PhefsTer12) c.1435dup (p.Ser479PhefsTer12) c.4891dup (p.Ser1631PhefsTer12) c.1215dup c.1402dup (p.Ser468PhefsTer12) c.4611dup (n.4611dup) c.1141dup (p.Ser381PhefsTer12) c.5-7135dup (n.5-7135dup) c.301dup (p.Ser101PhefsTer12) c.-98-20896dup (n.-98-20896dup) n.4964dup n.5005dup	ClinVar dbSNP
17	g.43071087T>A	CA10591867	BRCA1	c.4824A>T (p.Glu1608Asp) c.4827A>T (p.Glu1609Asp) c.4701A>T (p.Glu1567Asp) c.4821A>T (p.Glu1607Asp) c.4749A>T (p.Glu1583Asp) c.1515A>T (p.Glu505Asp) c.1377A>T (p.Glu459Asp) c.3939A>T (p.Glu1313Asp) c.4704A>T (p.Glu1568Asp) c.4893A>T (p.Glu1631Asp) c.4686A>T (p.Glu1562Asp) c.1389A>T (p.Glu463Asp) c.1434A>T (p.Glu478Asp) c.4890A>T (p.Glu1630Asp) c.1214A>T c.1401A>T (p.Glu467Asp) c.4610A>T (n.4610A>T) c.1140A>T (p.Glu380Asp) c.5-7136A>T (n.5-7136A>T) c.300A>T (p.Glu100Asp) c.-98-20897A>T (n.-98-20897A>T) n.4963A>T n.5004A>T	dbSNP
17	g.43071087T>C	CA500231814	BRCA1	c.4824A>G (p.Glu1608=) c.4827A>G (p.Glu1609=) c.4701A>G (p.Glu1567=) c.4821A>G (p.Glu1607=) c.4749A>G (p.Glu1583=) c.1515A>G (p.Glu505=) c.1377A>G (p.Glu459=) c.3939A>G (p.Glu1313=) c.4704A>G (p.Glu1568=) c.4893A>G (p.Glu1631=) c.4686A>G (p.Glu1562=) c.1389A>G (p.Glu463=) c.1434A>G (p.Glu478=) c.4890A>G (p.Glu1630=) c.1214A>G c.1401A>G (p.Glu467=) c.4610A>G (n.4610A>G) c.1140A>G (p.Glu380=) c.5-7136A>G (n.5-7136A>G) c.300A>G (p.Glu100=) c.-98-20897A>G (n.-98-20897A>G) n.4963A>G n.5004A>G	dbSNP
17	g.43071087T>G	CA10591868	BRCA1	c.4824A>C (p.Glu1608Asp) c.4827A>C (p.Glu1609Asp) c.4701A>C (p.Glu1567Asp) c.4821A>C (p.Glu1607Asp) c.4749A>C (p.Glu1583Asp) c.1515A>C (p.Glu505Asp) c.1377A>C (p.Glu459Asp) c.3939A>C (p.Glu1313Asp) c.4704A>C (p.Glu1568Asp) c.4893A>C (p.Glu1631Asp) c.4686A>C (p.Glu1562Asp) c.1389A>C (p.Glu463Asp) c.1434A>C (p.Glu478Asp) c.4890A>C (p.Glu1630Asp) c.1214A>C c.1401A>C (p.Glu467Asp) c.4610A>C (n.4610A>C) c.1140A>C (p.Glu380Asp) c.5-7136A>C (n.5-7136A>C) c.300A>C (p.Glu100Asp) c.-98-20897A>C (n.-98-20897A>C) n.4963A>C n.5004A>C
17	g.43071088T>A	CA10591869	BRCA1	c.4823A>T (p.Glu1608Val) c.4826A>T (p.Glu1609Val) c.4700A>T (p.Glu1567Val) c.4820A>T (p.Glu1607Val) c.4748A>T (p.Glu1583Val) c.1514A>T (p.Glu505Val) c.1376A>T (p.Glu459Val) c.3938A>T (p.Glu1313Val) c.4703A>T (p.Glu1568Val) c.4892A>T (p.Glu1631Val) c.4685A>T (p.Glu1562Val) c.1388A>T (p.Glu463Val) c.1433A>T (p.Glu478Val) c.4889A>T (p.Glu1630Val) c.1213A>T c.1400A>T (p.Glu467Val) c.4609A>T (n.4609A>T) c.1139A>T (p.Glu380Val) c.5-7137A>T (n.5-7137A>T) c.299A>T (p.Glu100Val) c.-98-20898A>T (n.-98-20898A>T) n.4962A>T n.5003A>T	dbSNP
17	g.43071088T>C	CA003039	BRCA1	c.4823A>G (p.Glu1608Gly) c.4826A>G (p.Glu1609Gly) c.4700A>G (p.Glu1567Gly) c.4820A>G (p.Glu1607Gly) c.4748A>G (p.Glu1583Gly) c.1514A>G (p.Glu505Gly) c.1376A>G (p.Glu459Gly) c.3938A>G (p.Glu1313Gly) c.4703A>G (p.Glu1568Gly) c.4892A>G (p.Glu1631Gly) c.4685A>G (p.Glu1562Gly) c.1388A>G (p.Glu463Gly) c.1433A>G (p.Glu478Gly) c.4889A>G (p.Glu1630Gly) c.1213A>G c.1400A>G (p.Glu467Gly) c.4609A>G (n.4609A>G) c.1139A>G (p.Glu380Gly) c.5-7137A>G (n.5-7137A>G) c.299A>G (p.Glu100Gly) c.-98-20898A>G (n.-98-20898A>G) n.4962A>G n.5003A>G	ClinVar dbSNP
17	g.43071088T>G	CA10591870	BRCA1	c.4823A>C (p.Glu1608Ala) c.4826A>C (p.Glu1609Ala) c.4700A>C (p.Glu1567Ala) c.4820A>C (p.Glu1607Ala) c.4748A>C (p.Glu1583Ala) c.1514A>C (p.Glu505Ala) c.1376A>C (p.Glu459Ala) c.3938A>C (p.Glu1313Ala) c.4703A>C (p.Glu1568Ala) c.4892A>C (p.Glu1631Ala) c.4685A>C (p.Glu1562Ala) c.1388A>C (p.Glu463Ala) c.1433A>C (p.Glu478Ala) c.4889A>C (p.Glu1630Ala) c.1213A>C c.1400A>C (p.Glu467Ala) c.4609A>C (n.4609A>C) c.1139A>C (p.Glu380Ala) c.5-7137A>C (n.5-7137A>C) c.299A>C (p.Glu100Ala) c.-98-20898A>C (n.-98-20898A>C) n.4962A>C n.5003A>C
17	g.43071088T=	CA2260772905	BRCA1	c.4823A= (p.Glu1608=) c.4826A= (p.Glu1609=) c.4700A= (p.Glu1567=) c.4820A= (p.Glu1607=) c.4748A= (p.Glu1583=) c.1514A= (p.Glu505=) c.1376A= (p.Glu459=) c.3938A= (p.Glu1313=) c.4703A= (p.Glu1568=) c.4892A= (p.Glu1631=) c.4685A= (p.Glu1562=) c.1388A= (p.Glu463=) c.1433A= (p.Glu478=) c.4889A= (p.Glu1630=) c.1213A= c.1400A= (p.Glu467=) c.4609A= (n.4609A=) c.1139A= (p.Glu380=) c.5-7137A= (n.5-7137A=) c.299A= (p.Glu100=) c.-98-20898A= (n.-98-20898A=) n.4962A= n.5003A=
17	g.43071089C>A	CA10591871	BRCA1	c.4822G>T (p.Glu1608Ter) c.4825G>T (p.Glu1609Ter) c.4699G>T (p.Glu1567Ter) c.4819G>T (p.Glu1607Ter) c.4747G>T (p.Glu1583Ter) c.1513G>T (p.Glu505Ter) c.1375G>T (p.Glu459Ter) c.3937G>T (p.Glu1313Ter) c.4702G>T (p.Glu1568Ter) c.4891G>T (p.Glu1631Ter) c.4684G>T (p.Glu1562Ter) c.1387G>T (p.Glu463Ter) c.1432G>T (p.Glu478Ter) c.4888G>T (p.Glu1630Ter) c.1212G>T c.1399G>T (p.Glu467Ter) c.4608G>T (n.4608G>T) c.1138G>T (p.Glu380Ter) c.5-7138G>T (n.5-7138G>T) c.298G>T (p.Glu100Ter) c.-98-20899G>T (n.-98-20899G>T) n.4961G>T n.5002G>T	ClinVar dbSNP COSMIC
17	g.43071089C>G	CA10591872	BRCA1	c.4822G>C (p.Glu1608Gln) c.4825G>C (p.Glu1609Gln) c.4699G>C (p.Glu1567Gln) c.4819G>C (p.Glu1607Gln) c.4747G>C (p.Glu1583Gln) c.1513G>C (p.Glu505Gln) c.1375G>C (p.Glu459Gln) c.3937G>C (p.Glu1313Gln) c.4702G>C (p.Glu1568Gln) c.4891G>C (p.Glu1631Gln) c.4684G>C (p.Glu1562Gln) c.1387G>C (p.Glu463Gln) c.1432G>C (p.Glu478Gln) c.4888G>C (p.Glu1630Gln) c.1212G>C c.1399G>C (p.Glu467Gln) c.4608G>C (n.4608G>C) c.1138G>C (p.Glu380Gln) c.5-7138G>C (n.5-7138G>C) c.298G>C (p.Glu100Gln) c.-98-20899G>C (n.-98-20899G>C) n.4961G>C n.5002G>C	dbSNP
17	g.43071089C>T	CA10591873	BRCA1	c.4822G>A (p.Glu1608Lys) c.4825G>A (p.Glu1609Lys) c.4699G>A (p.Glu1567Lys) c.4819G>A (p.Glu1607Lys) c.4747G>A (p.Glu1583Lys) c.1513G>A (p.Glu505Lys) c.1375G>A (p.Glu459Lys) c.3937G>A (p.Glu1313Lys) c.4702G>A (p.Glu1568Lys) c.4891G>A (p.Glu1631Lys) c.4684G>A (p.Glu1562Lys) c.1387G>A (p.Glu463Lys) c.1432G>A (p.Glu478Lys) c.4888G>A (p.Glu1630Lys) c.1212G>A c.1399G>A (p.Glu467Lys) c.4608G>A (n.4608G>A) c.1138G>A (p.Glu380Lys) c.5-7138G>A (n.5-7138G>A) c.298G>A (p.Glu100Lys) c.-98-20899G>A (n.-98-20899G>A) n.4961G>A n.5002G>A	dbSNP
17	g.43071090T>A	CA500231815	BRCA1	c.4821A>T (p.Ala1607=) c.4824A>T (p.Ala1608=) c.4698A>T (p.Ala1566=) c.4818A>T (p.Ala1606=) c.4746A>T (p.Ala1582=) c.1512A>T (p.Ala504=) c.1374A>T (p.Ala458=) c.3936A>T (p.Ala1312=) c.4701A>T (p.Ala1567=) c.4890A>T (p.Ala1630=) c.4683A>T (p.Ala1561=) c.1386A>T (p.Ala462=) c.1431A>T (p.Ala477=) c.4887A>T (p.Ala1629=) c.1211A>T c.1398A>T (p.Ala466=) c.4607A>T (n.4607A>T) c.1137A>T (p.Ala379=) c.5-7139A>T (n.5-7139A>T) c.297A>T (p.Ala99=) c.-98-20900A>T (n.-98-20900A>T) n.4960A>T n.5001A>T	dbSNP
17	g.43071090T>C	CA500231816	BRCA1	c.4821A>G (p.Ala1607=) c.4824A>G (p.Ala1608=) c.4698A>G (p.Ala1566=) c.4818A>G (p.Ala1606=) c.4746A>G (p.Ala1582=) c.1512A>G (p.Ala504=) c.1374A>G (p.Ala458=) c.3936A>G (p.Ala1312=) c.4701A>G (p.Ala1567=) c.4890A>G (p.Ala1630=) c.4683A>G (p.Ala1561=) c.1386A>G (p.Ala462=) c.1431A>G (p.Ala477=) c.4887A>G (p.Ala1629=) c.1211A>G c.1398A>G (p.Ala466=) c.4607A>G (n.4607A>G) c.1137A>G (p.Ala379=) c.5-7139A>G (n.5-7139A>G) c.297A>G (p.Ala99=) c.-98-20900A>G (n.-98-20900A>G) n.4960A>G n.5001A>G	ClinVar dbSNP gnomAD v4
17	g.43071090T>G	CA500231817	BRCA1	c.4821A>C (p.Ala1607=) c.4824A>C (p.Ala1608=) c.4698A>C (p.Ala1566=) c.4818A>C (p.Ala1606=) c.4746A>C (p.Ala1582=) c.1512A>C (p.Ala504=) c.1374A>C (p.Ala458=) c.3936A>C (p.Ala1312=) c.4701A>C (p.Ala1567=) c.4890A>C (p.Ala1630=) c.4683A>C (p.Ala1561=) c.1386A>C (p.Ala462=) c.1431A>C (p.Ala477=) c.4887A>C (p.Ala1629=) c.1211A>C c.1398A>C (p.Ala466=) c.4607A>C (n.4607A>C) c.1137A>C (p.Ala379=) c.5-7139A>C (n.5-7139A>C) c.297A>C (p.Ala99=) c.-98-20900A>C (n.-98-20900A>C) n.4960A>C n.5001A>C
17	g.43071090T=	CA2260772906	BRCA1	c.4821A= (p.Ala1607=) c.4824A= (p.Ala1608=) c.4698A= (p.Ala1566=) c.4818A= (p.Ala1606=) c.4746A= (p.Ala1582=) c.1512A= (p.Ala504=) c.1374A= (p.Ala458=) c.3936A= (p.Ala1312=) c.4701A= (p.Ala1567=) c.4890A= (p.Ala1630=) c.4683A= (p.Ala1561=) c.1386A= (p.Ala462=) c.1431A= (p.Ala477=) c.4887A= (p.Ala1629=) c.1211A= c.1398A= (p.Ala466=) c.4607A= (n.4607A=) c.1137A= (p.Ala379=) c.5-7139A= (n.5-7139A=) c.297A= (p.Ala99=) c.-98-20900A= (n.-98-20900A=) n.4960A= n.5001A=
17	g.43071090_43071104del	CA2638062539	BRCA1	c.4807_4821del (p.Gln1603_Ala1607del) c.4810_4824del (p.Gln1604_Ala1608del) c.4684_4698del (p.Gln1562_Ala1566del) c.4804_4818del (p.Gln1602_Ala1606del) c.4732_4746del (p.Gln1578_Ala1582del) c.1498_1512del (p.Gln500_Ala504del) c.1360_1374del (p.Gln454_Ala458del) c.3922_3936del (p.Gln1308_Ala1312del) c.4687_4701del (p.Gln1563_Ala1567del) c.4876_4890del (p.Gln1626_Ala1630del) c.4669_4683del (p.Gln1557_Ala1561del) c.1372_1386del (p.Gln458_Ala462del) c.1417_1431del (p.Gln473_Ala477del) c.4873_4887del (p.Gln1625_Ala1629del) c.1197_1211del c.1384_1398del (p.Gln462_Ala466del) c.4593_4607del (n.4593_4607del) c.1123_1137del (p.Gln375_Ala379del) c.5-7153_5-7139del (n.5-7153_5-7139del) c.283_297del (p.Gln95_Ala99del) c.-98-20914_-98-20900del (n.-98-20914_-98-20900del) n.4946_4960del n.4987_5001del	gnomAD v4
17	g.43071090_43071091insC	CA658825006	BRCA1	c.4820_4821insG (p.Glu1608ArgfsTer13) c.4823_4824insG (p.Glu1609ArgfsTer13) c.4697_4698insG (p.Glu1567ArgfsTer13) c.4817_4818insG (p.Glu1607ArgfsTer13) c.4745_4746insG (p.Glu1583ArgfsTer13) c.1511_1512insG (p.Glu505ArgfsTer13) c.1373_1374insG (p.Glu459ArgfsTer13) c.3935_3936insG (p.Glu1313ArgfsTer13) c.4700_4701insG (p.Glu1568ArgfsTer13) c.4889_4890insG (p.Glu1631ArgfsTer13) c.4682_4683insG (p.Glu1562ArgfsTer13) c.1385_1386insG (p.Glu463ArgfsTer13) c.1430_1431insG (p.Glu478ArgfsTer13) c.4886_4887insG (p.Glu1630ArgfsTer13) c.1210_1211insG c.1397_1398insG (p.Glu467ArgfsTer13) c.4606_4607insG (n.4606_4607insG) c.1136_1137insG (p.Glu380ArgfsTer13) c.5-7140_5-7139insG (n.5-7140_5-7139insG) c.296_297insG (p.Glu100ArgfsTer13) c.-98-20901_-98-20900insG (n.-98-20901_-98-20900insG) n.4959_4960insG n.5000_5001insG	ClinVar dbSNP
17	g.43071091G>A	CA003038	BRCA1	c.4820C>T (p.Ala1607Val) c.4823C>T (p.Ala1608Val) c.4697C>T (p.Ala1566Val) c.4817C>T (p.Ala1606Val) c.4745C>T (p.Ala1582Val) c.1511C>T (p.Ala504Val) c.1373C>T (p.Ala458Val) c.3935C>T (p.Ala1312Val) c.4700C>T (p.Ala1567Val) c.4889C>T (p.Ala1630Val) c.4682C>T (p.Ala1561Val) c.1385C>T (p.Ala462Val) c.1430C>T (p.Ala477Val) c.4886C>T (p.Ala1629Val) c.1210C>T c.1397C>T (p.Ala466Val) c.4606C>T (n.4606C>T) c.1136C>T (p.Ala379Val) c.5-7140C>T (n.5-7140C>T) c.296C>T (p.Ala99Val) c.-98-20901C>T (n.-98-20901C>T) n.4959C>T n.5000C>T	ClinVar dbSNP
17	g.43071091G>C	CA10591874	BRCA1	c.4820C>G (p.Ala1607Gly) c.4823C>G (p.Ala1608Gly) c.4697C>G (p.Ala1566Gly) c.4817C>G (p.Ala1606Gly) c.4745C>G (p.Ala1582Gly) c.1511C>G (p.Ala504Gly) c.1373C>G (p.Ala458Gly) c.3935C>G (p.Ala1312Gly) c.4700C>G (p.Ala1567Gly) c.4889C>G (p.Ala1630Gly) c.4682C>G (p.Ala1561Gly) c.1385C>G (p.Ala462Gly) c.1430C>G (p.Ala477Gly) c.4886C>G (p.Ala1629Gly) c.1210C>G c.1397C>G (p.Ala466Gly) c.4606C>G (n.4606C>G) c.1136C>G (p.Ala379Gly) c.5-7140C>G (n.5-7140C>G) c.296C>G (p.Ala99Gly) c.-98-20901C>G (n.-98-20901C>G) n.4959C>G n.5000C>G	dbSNP
17	g.43071091G=	CA2260772907	BRCA1	c.4820C= (p.Ala1607=) c.4823C= (p.Ala1608=) c.4697C= (p.Ala1566=) c.4817C= (p.Ala1606=) c.4745C= (p.Ala1582=) c.1511C= (p.Ala504=) c.1373C= (p.Ala458=) c.3935C= (p.Ala1312=) c.4700C= (p.Ala1567=) c.4889C= (p.Ala1630=) c.4682C= (p.Ala1561=) c.1385C= (p.Ala462=) c.1430C= (p.Ala477=) c.4886C= (p.Ala1629=) c.1210C= c.1397C= (p.Ala466=) c.4606C= (n.4606C=) c.1136C= (p.Ala379=) c.5-7140C= (n.5-7140C=) c.296C= (p.Ala99=) c.-98-20901C= (n.-98-20901C=) n.4959C= n.5000C=
17	g.43071091G>T	CA10591875	BRCA1	c.4820C>A (p.Ala1607Glu) c.4823C>A (p.Ala1608Glu) c.4697C>A (p.Ala1566Glu) c.4817C>A (p.Ala1606Glu) c.4745C>A (p.Ala1582Glu) c.1511C>A (p.Ala504Glu) c.1373C>A (p.Ala458Glu) c.3935C>A (p.Ala1312Glu) c.4700C>A (p.Ala1567Glu) c.4889C>A (p.Ala1630Glu) c.4682C>A (p.Ala1561Glu) c.1385C>A (p.Ala462Glu) c.1430C>A (p.Ala477Glu) c.4886C>A (p.Ala1629Glu) c.1210C>A c.1397C>A (p.Ala466Glu) c.4606C>A (n.4606C>A) c.1136C>A (p.Ala379Glu) c.5-7140C>A (n.5-7140C>A) c.296C>A (p.Ala99Glu) c.-98-20901C>A (n.-98-20901C>A) n.4959C>A n.5000C>A	dbSNP gnomAD v4
17	g.43071092C>A	CA10591876	BRCA1	c.4819G>T (p.Ala1607Ser) c.4822G>T (p.Ala1608Ser) c.4696G>T (p.Ala1566Ser) c.4816G>T (p.Ala1606Ser) c.4744G>T (p.Ala1582Ser) c.1510G>T (p.Ala504Ser) c.1372G>T (p.Ala458Ser) c.3934G>T (p.Ala1312Ser) c.4699G>T (p.Ala1567Ser) c.4888G>T (p.Ala1630Ser) c.4681G>T (p.Ala1561Ser) c.1384G>T (p.Ala462Ser) c.1429G>T (p.Ala477Ser) c.4885G>T (p.Ala1629Ser) c.1209G>T c.1396G>T (p.Ala466Ser) c.4605G>T (n.4605G>T) c.1135G>T (p.Ala379Ser) c.5-7141G>T (n.5-7141G>T) c.295G>T (p.Ala99Ser) c.-98-20902G>T (n.-98-20902G>T) n.4958G>T n.4999G>T
17	g.43071092C=	CA2260772909	BRCA1	c.4819G= (p.Ala1607=) c.4822G= (p.Ala1608=) c.4696G= (p.Ala1566=) c.4816G= (p.Ala1606=) c.4744G= (p.Ala1582=) c.1510G= (p.Ala504=) c.1372G= (p.Ala458=) c.3934G= (p.Ala1312=) c.4699G= (p.Ala1567=) c.4888G= (p.Ala1630=) c.4681G= (p.Ala1561=) c.1384G= (p.Ala462=) c.1429G= (p.Ala477=) c.4885G= (p.Ala1629=) c.1209G= c.1396G= (p.Ala466=) c.4605G= (n.4605G=) c.1135G= (p.Ala379=) c.5-7141G= (n.5-7141G=) c.295G= (p.Ala99=) c.-98-20902G= (n.-98-20902G=) n.4958G= n.4999G=
17	g.43071092C>G	CA10591877	BRCA1	c.4819G>C (p.Ala1607Pro) c.4822G>C (p.Ala1608Pro) c.4696G>C (p.Ala1566Pro) c.4816G>C (p.Ala1606Pro) c.4744G>C (p.Ala1582Pro) c.1510G>C (p.Ala504Pro) c.1372G>C (p.Ala458Pro) c.3934G>C (p.Ala1312Pro) c.4699G>C (p.Ala1567Pro) c.4888G>C (p.Ala1630Pro) c.4681G>C (p.Ala1561Pro) c.1384G>C (p.Ala462Pro) c.1429G>C (p.Ala477Pro) c.4885G>C (p.Ala1629Pro) c.1209G>C c.1396G>C (p.Ala466Pro) c.4605G>C (n.4605G>C) c.1135G>C (p.Ala379Pro) c.5-7141G>C (n.5-7141G>C) c.295G>C (p.Ala99Pro) c.-98-20902G>C (n.-98-20902G>C) n.4958G>C n.4999G>C
17	g.43071092C>T	CA10591878	BRCA1	c.4819G>A (p.Ala1607Thr) c.4822G>A (p.Ala1608Thr) c.4696G>A (p.Ala1566Thr) c.4816G>A (p.Ala1606Thr) c.4744G>A (p.Ala1582Thr) c.1510G>A (p.Ala504Thr) c.1372G>A (p.Ala458Thr) c.3934G>A (p.Ala1312Thr) c.4699G>A (p.Ala1567Thr) c.4888G>A (p.Ala1630Thr) c.4681G>A (p.Ala1561Thr) c.1384G>A (p.Ala462Thr) c.1429G>A (p.Ala477Thr) c.4885G>A (p.Ala1629Thr) c.1209G>A c.1396G>A (p.Ala466Thr) c.4605G>A (n.4605G>A) c.1135G>A (p.Ala379Thr) c.5-7141G>A (n.5-7141G>A) c.295G>A (p.Ala99Thr) c.-98-20902G>A (n.-98-20902G>A) n.4958G>A n.4999G>A	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17	g.43071092dup	CA645373143	BRCA1	c.4819dup (p.Ala1607GlyfsTer14) c.4822dup (p.Ala1608GlyfsTer14) c.4696dup (p.Ala1566GlyfsTer14) c.4816dup (p.Ala1606GlyfsTer14) c.4744dup (p.Ala1582GlyfsTer14) c.1510dup (p.Ala504GlyfsTer14) c.1372dup (p.Ala458GlyfsTer14) c.3934dup (p.Ala1312GlyfsTer14) c.4699dup (p.Ala1567GlyfsTer14) c.4888dup (p.Ala1630GlyfsTer14) c.4681dup (p.Ala1561GlyfsTer14) c.1384dup (p.Ala462GlyfsTer14) c.1429dup (p.Ala477GlyfsTer14) c.4885dup (p.Ala1629GlyfsTer14) c.1209dup c.1396dup (p.Ala466GlyfsTer14) c.4605dup (n.4605dup) c.1135dup (p.Ala379GlyfsTer14) c.5-7141dup (n.5-7141dup) c.295dup (p.Ala99GlyfsTer14) c.-98-20902dup (n.-98-20902dup) n.4958dup n.4999dup	ClinVar dbSNP
17	g.43071092_43071107delinsCAACTTTCAATTGGGG	CA2260772908	BRCA1	c.4804_4819delinsCCCCAATTGAAAGTTG (p.Pro1602=) c.4807_4822delinsCCCCAATTGAAAGTTG (p.Pro1603=) c.4681_4696delinsCCCCAATTGAAAGTTG (p.Pro1561=) c.4801_4816delinsCCCCAATTGAAAGTTG (p.Pro1601=) c.4729_4744delinsCCCCAATTGAAAGTTG (p.Pro1577=) c.1495_1510delinsCCCCAATTGAAAGTTG (p.Pro499=) c.1357_1372delinsCCCCAATTGAAAGTTG (p.Pro453=) c.3919_3934delinsCCCCAATTGAAAGTTG (p.Pro1307=) c.4684_4699delinsCCCCAATTGAAAGTTG (p.Pro1562=) c.4873_4888delinsCCCCAATTGAAAGTTG (p.Pro1625=) c.4666_4681delinsCCCCAATTGAAAGTTG (p.Pro1556=) c.1369_1384delinsCCCCAATTGAAAGTTG (p.Pro457=) c.1414_1429delinsCCCCAATTGAAAGTTG (p.Pro472=) c.4870_4885delinsCCCCAATTGAAAGTTG (p.Pro1624=) c.1194_1209delinsCCCCAATTGAAAGTTG c.1381_1396delinsCCCCAATTGAAAGTTG (p.Pro461=) c.4590_4605delinsCCCCAATTGAAAGTTG (n.4590_4605delinsCCCCAATTGAAAGTTG) c.1120_1135delinsCCCCAATTGAAAGTTG (p.Pro374=) c.5-7156_5-7141delinsCCCCAATTGAAAGTTG (n.5-7156_5-7141delinsCCCCAATTGAAAGTTG) c.280_295delinsCCCCAATTGAAAGTTG (p.Pro94=) c.-98-20917_-98-20902delinsCCCCAATTGAAAGTTG (n.-98-20917_-98-20902delinsCCCCAATTGAAAGTTG) n.4943_4958delinsCCCCAATTGAAAGTTG n.4984_4999delinsCCCCAATTGAAAGTTG
17	g.43071093A=	CA2260772910	BRCA1	c.4818T= (p.Val1606=) c.4821T= (p.Val1607=) c.4695T= (p.Val1565=) c.4815T= (p.Val1605=) c.4743T= (p.Val1581=) c.1509T= (p.Val503=) c.1371T= (p.Val457=) c.3933T= (p.Val1311=) c.4698T= (p.Val1566=) c.4887T= (p.Val1629=) c.4680T= (p.Val1560=) c.1383T= (p.Val461=) c.1428T= (p.Val476=) c.4884T= (p.Val1628=) c.1208T= c.1395T= (p.Val465=) c.4604T= (n.4604T=) c.1134T= (p.Val378=) c.5-7142T= (n.5-7142T=) c.294T= (p.Val98=) c.-98-20903T= (n.-98-20903T=) n.4957T= n.4998T=
17	g.43071093A>C	CA500231818	BRCA1	c.4818T>G (p.Val1606=) c.4821T>G (p.Val1607=) c.4695T>G (p.Val1565=) c.4815T>G (p.Val1605=) c.4743T>G (p.Val1581=) c.1509T>G (p.Val503=) c.1371T>G (p.Val457=) c.3933T>G (p.Val1311=) c.4698T>G (p.Val1566=) c.4887T>G (p.Val1629=) c.4680T>G (p.Val1560=) c.1383T>G (p.Val461=) c.1428T>G (p.Val476=) c.4884T>G (p.Val1628=) c.1208T>G c.1395T>G (p.Val465=) c.4604T>G (n.4604T>G) c.1134T>G (p.Val378=) c.5-7142T>G (n.5-7142T>G) c.294T>G (p.Val98=) c.-98-20903T>G (n.-98-20903T>G) n.4957T>G n.4998T>G
17	g.43071093A>G	CA500231820	BRCA1	c.4818T>C (p.Val1606=) c.4821T>C (p.Val1607=) c.4695T>C (p.Val1565=) c.4815T>C (p.Val1605=) c.4743T>C (p.Val1581=) c.1509T>C (p.Val503=) c.1371T>C (p.Val457=) c.3933T>C (p.Val1311=) c.4698T>C (p.Val1566=) c.4887T>C (p.Val1629=) c.4680T>C (p.Val1560=) c.1383T>C (p.Val461=) c.1428T>C (p.Val476=) c.4884T>C (p.Val1628=) c.1208T>C c.1395T>C (p.Val465=) c.4604T>C (n.4604T>C) c.1134T>C (p.Val378=) c.5-7142T>C (n.5-7142T>C) c.294T>C (p.Val98=) c.-98-20903T>C (n.-98-20903T>C) n.4957T>C n.4998T>C	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.43071093A>T	CA500231819	BRCA1	c.4818T>A (p.Val1606=) c.4821T>A (p.Val1607=) c.4695T>A (p.Val1565=) c.4815T>A (p.Val1605=) c.4743T>A (p.Val1581=) c.1509T>A (p.Val503=) c.1371T>A (p.Val457=) c.3933T>A (p.Val1311=) c.4698T>A (p.Val1566=) c.4887T>A (p.Val1629=) c.4680T>A (p.Val1560=) c.1383T>A (p.Val461=) c.1428T>A (p.Val476=) c.4884T>A (p.Val1628=) c.1208T>A c.1395T>A (p.Val465=) c.4604T>A (n.4604T>A) c.1134T>A (p.Val378=) c.5-7142T>A (n.5-7142T>A) c.294T>A (p.Val98=) c.-98-20903T>A (n.-98-20903T>A) n.4957T>A n.4998T>A	dbSNP
17	g.43071094del	CA2499224395	BRCA1	c.4818del (p.Ala1607GlnfsTer25) c.4821del (p.Ala1608GlnfsTer25) c.4695del (p.Ala1566GlnfsTer25) c.4815del (p.Ala1606GlnfsTer25) c.4743del (p.Ala1582GlnfsTer25) c.1509del (p.Ala504GlnfsTer25) c.1371del (p.Ala458GlnfsTer25) c.3933del (p.Ala1312GlnfsTer25) c.4698del (p.Ala1567GlnfsTer25) c.4887del (p.Ala1630GlnfsTer25) c.4680del (p.Ala1561GlnfsTer25) c.1383del (p.Ala462GlnfsTer25) c.1428del (p.Ala477GlnfsTer25) c.4884del (p.Ala1629GlnfsTer25) c.1208del c.1395del (p.Ala466GlnfsTer25) c.4604del (n.4604del) c.1134del (p.Ala379GlnfsTer25) c.5-7142del (n.5-7142del) c.294del (p.Ala99GlnfsTer25) c.-98-20903del (n.-98-20903del) n.4957del n.4998del	ClinVar dbSNP
17	g.43071103_43071117del	CA003026	BRCA1	c.4804_4818del (p.Pro1602_Val1606del) c.4807_4821del (p.Pro1603_Val1607del) c.4681_4695del (p.Pro1561_Val1565del) c.4801_4815del (p.Pro1601_Val1605del) c.4729_4743del (p.Pro1577_Val1581del) c.1495_1509del (p.Pro499_Val503del) c.1357_1371del (p.Pro453_Val457del) c.3919_3933del (p.Pro1307_Val1311del) c.4684_4698del (p.Pro1562_Val1566del) c.4873_4887del (p.Pro1625_Val1629del) c.4666_4680del (p.Pro1556_Val1560del) c.1369_1383del (p.Pro457_Val461del) c.1414_1428del (p.Pro472_Val476del) c.4870_4884del (p.Pro1624_Val1628del) c.1194_1208del c.1381_1395del (p.Pro461_Val465del) c.4590_4604del (n.4590_4604del) c.1120_1134del (p.Pro374_Val378del) c.5-7156_5-7142del (n.5-7156_5-7142del) c.280_294del (p.Pro94_Val98del) c.-98-20917_-98-20903del (n.-98-20917_-98-20903del) n.4943_4957del n.4984_4998del	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071094A=	CA2260772911	BRCA1	c.4817T= (p.Val1606=) c.4820T= (p.Val1607=) c.4694T= (p.Val1565=) c.4814T= (p.Val1605=) c.4742T= (p.Val1581=) c.1508T= (p.Val503=) c.1370T= (p.Val457=) c.3932T= (p.Val1311=) c.4697T= (p.Val1566=) c.4886T= (p.Val1629=) c.4679T= (p.Val1560=) c.1382T= (p.Val461=) c.1427T= (p.Val476=) c.4883T= (p.Val1628=) c.1207T= c.1394T= (p.Val465=) c.4603T= (n.4603T=) c.1133T= (p.Val378=) c.5-7143T= (n.5-7143T=) c.293T= (p.Val98=) c.-98-20904T= (n.-98-20904T=) n.4956T= n.4997T=
17	g.43071094A>C	CA10591879	BRCA1	c.4817T>G (p.Val1606Gly) c.4820T>G (p.Val1607Gly) c.4694T>G (p.Val1565Gly) c.4814T>G (p.Val1605Gly) c.4742T>G (p.Val1581Gly) c.1508T>G (p.Val503Gly) c.1370T>G (p.Val457Gly) c.3932T>G (p.Val1311Gly) c.4697T>G (p.Val1566Gly) c.4886T>G (p.Val1629Gly) c.4679T>G (p.Val1560Gly) c.1382T>G (p.Val461Gly) c.1427T>G (p.Val476Gly) c.4883T>G (p.Val1628Gly) c.1207T>G c.1394T>G (p.Val465Gly) c.4603T>G (n.4603T>G) c.1133T>G (p.Val378Gly) c.5-7143T>G (n.5-7143T>G) c.293T>G (p.Val98Gly) c.-98-20904T>G (n.-98-20904T>G) n.4956T>G n.4997T>G	dbSNP
17	g.43071094A>G	CA10590061	BRCA1	c.4817T>C (p.Val1606Ala) c.4820T>C (p.Val1607Ala) c.4694T>C (p.Val1565Ala) c.4814T>C (p.Val1605Ala) c.4742T>C (p.Val1581Ala) c.1508T>C (p.Val503Ala) c.1370T>C (p.Val457Ala) c.3932T>C (p.Val1311Ala) c.4697T>C (p.Val1566Ala) c.4886T>C (p.Val1629Ala) c.4679T>C (p.Val1560Ala) c.1382T>C (p.Val461Ala) c.1427T>C (p.Val476Ala) c.4883T>C (p.Val1628Ala) c.1207T>C c.1394T>C (p.Val465Ala) c.4603T>C (n.4603T>C) c.1133T>C (p.Val378Ala) c.5-7143T>C (n.5-7143T>C) c.293T>C (p.Val98Ala) c.-98-20904T>C (n.-98-20904T>C) n.4956T>C n.4997T>C	dbSNP
17	g.43071094A>T	CA10591880	BRCA1	c.4817T>A (p.Val1606Asp) c.4820T>A (p.Val1607Asp) c.4694T>A (p.Val1565Asp) c.4814T>A (p.Val1605Asp) c.4742T>A (p.Val1581Asp) c.1508T>A (p.Val503Asp) c.1370T>A (p.Val457Asp) c.3932T>A (p.Val1311Asp) c.4697T>A (p.Val1566Asp) c.4886T>A (p.Val1629Asp) c.4679T>A (p.Val1560Asp) c.1382T>A (p.Val461Asp) c.1427T>A (p.Val476Asp) c.4883T>A (p.Val1628Asp) c.1207T>A c.1394T>A (p.Val465Asp) c.4603T>A (n.4603T>A) c.1133T>A (p.Val378Asp) c.5-7143T>A (n.5-7143T>A) c.293T>A (p.Val98Asp) c.-98-20904T>A (n.-98-20904T>A) n.4956T>A n.4997T>A	dbSNP
17	g.43071095C>A	CA10591881	BRCA1	c.4816G>T (p.Val1606Phe) c.4819G>T (p.Val1607Phe) c.4693G>T (p.Val1565Phe) c.4813G>T (p.Val1605Phe) c.4741G>T (p.Val1581Phe) c.1507G>T (p.Val503Phe) c.1369G>T (p.Val457Phe) c.3931G>T (p.Val1311Phe) c.4696G>T (p.Val1566Phe) c.4885G>T (p.Val1629Phe) c.4678G>T (p.Val1560Phe) c.1381G>T (p.Val461Phe) c.1426G>T (p.Val476Phe) c.4882G>T (p.Val1628Phe) c.1206G>T c.1393G>T (p.Val465Phe) c.4602G>T (n.4602G>T) c.1132G>T (p.Val378Phe) c.5-7144G>T (n.5-7144G>T) c.292G>T (p.Val98Phe) c.-98-20905G>T (n.-98-20905G>T) n.4955G>T n.4996G>T
17	g.43071095C>G	CA10591882	BRCA1	c.4816G>C (p.Val1606Leu) c.4819G>C (p.Val1607Leu) c.4693G>C (p.Val1565Leu) c.4813G>C (p.Val1605Leu) c.4741G>C (p.Val1581Leu) c.1507G>C (p.Val503Leu) c.1369G>C (p.Val457Leu) c.3931G>C (p.Val1311Leu) c.4696G>C (p.Val1566Leu) c.4885G>C (p.Val1629Leu) c.4678G>C (p.Val1560Leu) c.1381G>C (p.Val461Leu) c.1426G>C (p.Val476Leu) c.4882G>C (p.Val1628Leu) c.1206G>C c.1393G>C (p.Val465Leu) c.4602G>C (n.4602G>C) c.1132G>C (p.Val378Leu) c.5-7144G>C (n.5-7144G>C) c.292G>C (p.Val98Leu) c.-98-20905G>C (n.-98-20905G>C) n.4955G>C n.4996G>C	dbSNP
17	g.43071095C>T	CA10591883	BRCA1	c.4816G>A (p.Val1606Ile) c.4819G>A (p.Val1607Ile) c.4693G>A (p.Val1565Ile) c.4813G>A (p.Val1605Ile) c.4741G>A (p.Val1581Ile) c.1507G>A (p.Val503Ile) c.1369G>A (p.Val457Ile) c.3931G>A (p.Val1311Ile) c.4696G>A (p.Val1566Ile) c.4885G>A (p.Val1629Ile) c.4678G>A (p.Val1560Ile) c.1381G>A (p.Val461Ile) c.1426G>A (p.Val476Ile) c.4882G>A (p.Val1628Ile) c.1206G>A c.1393G>A (p.Val465Ile) c.4602G>A (n.4602G>A) c.1132G>A (p.Val378Ile) c.5-7144G>A (n.5-7144G>A) c.292G>A (p.Val98Ile) c.-98-20905G>A (n.-98-20905G>A) n.4955G>A n.4996G>A	gnomAD v4
17	g.43071095_43071096delinsCT	CA2260772912	BRCA1	c.4815_4816delinsAG (p.Lys1605=) c.4818_4819delinsAG (p.Lys1606=) c.4692_4693delinsAG (p.Lys1564=) c.4812_4813delinsAG (p.Lys1604=) c.4740_4741delinsAG (p.Lys1580=) c.1506_1507delinsAG (p.Lys502=) c.1368_1369delinsAG (p.Lys456=) c.3930_3931delinsAG (p.Lys1310=) c.4695_4696delinsAG (p.Lys1565=) c.4884_4885delinsAG (p.Lys1628=) c.4677_4678delinsAG (p.Lys1559=) c.1380_1381delinsAG (p.Lys460=) c.1425_1426delinsAG (p.Lys475=) c.4881_4882delinsAG (p.Lys1627=) c.1205_1206delinsAG c.1392_1393delinsAG (p.Lys464=) c.4601_4602delinsAG (n.4601_4602delinsAG) c.1131_1132delinsAG (p.Lys377=) c.5-7145_5-7144delinsAG (n.5-7145_5-7144delinsAG) c.291_292delinsAG (p.Lys97=) c.-98-20906_-98-20905delinsAG (n.-98-20906_-98-20905delinsAG) n.4954_4955delinsAG n.4995_4996delinsAG
17	g.43071096T>A	CA10591884	BRCA1	c.4815A>T (p.Lys1605Asn) c.4818A>T (p.Lys1606Asn) c.4692A>T (p.Lys1564Asn) c.4812A>T (p.Lys1604Asn) c.4740A>T (p.Lys1580Asn) c.1506A>T (p.Lys502Asn) c.1368A>T (p.Lys456Asn) c.3930A>T (p.Lys1310Asn) c.4695A>T (p.Lys1565Asn) c.4884A>T (p.Lys1628Asn) c.4677A>T (p.Lys1559Asn) c.1380A>T (p.Lys460Asn) c.1425A>T (p.Lys475Asn) c.4881A>T (p.Lys1627Asn) c.1205A>T c.1392A>T (p.Lys464Asn) c.4601A>T (n.4601A>T) c.1131A>T (p.Lys377Asn) c.5-7145A>T (n.5-7145A>T) c.291A>T (p.Lys97Asn) c.-98-20906A>T (n.-98-20906A>T) n.4954A>T n.4995A>T	dbSNP gnomAD v4
17	g.43071096T>C	CA500231821	BRCA1	c.4815A>G (p.Lys1605=) c.4818A>G (p.Lys1606=) c.4692A>G (p.Lys1564=) c.4812A>G (p.Lys1604=) c.4740A>G (p.Lys1580=) c.1506A>G (p.Lys502=) c.1368A>G (p.Lys456=) c.3930A>G (p.Lys1310=) c.4695A>G (p.Lys1565=) c.4884A>G (p.Lys1628=) c.4677A>G (p.Lys1559=) c.1380A>G (p.Lys460=) c.1425A>G (p.Lys475=) c.4881A>G (p.Lys1627=) c.1205A>G c.1392A>G (p.Lys464=) c.4601A>G (n.4601A>G) c.1131A>G (p.Lys377=) c.5-7145A>G (n.5-7145A>G) c.291A>G (p.Lys97=) c.-98-20906A>G (n.-98-20906A>G) n.4954A>G n.4995A>G	ClinVar
17	g.43071096T>G	CA10591885	BRCA1	c.4815A>C (p.Lys1605Asn) c.4818A>C (p.Lys1606Asn) c.4692A>C (p.Lys1564Asn) c.4812A>C (p.Lys1604Asn) c.4740A>C (p.Lys1580Asn) c.1506A>C (p.Lys502Asn) c.1368A>C (p.Lys456Asn) c.3930A>C (p.Lys1310Asn) c.4695A>C (p.Lys1565Asn) c.4884A>C (p.Lys1628Asn) c.4677A>C (p.Lys1559Asn) c.1380A>C (p.Lys460Asn) c.1425A>C (p.Lys475Asn) c.4881A>C (p.Lys1627Asn) c.1205A>C c.1392A>C (p.Lys464Asn) c.4601A>C (n.4601A>C) c.1131A>C (p.Lys377Asn) c.5-7145A>C (n.5-7145A>C) c.291A>C (p.Lys97Asn) c.-98-20906A>C (n.-98-20906A>C) n.4954A>C n.4995A>C
17	g.43071098del	CA658684115	BRCA1	c.4815del (p.Val1606LeufsTer26) c.4818del (p.Val1607LeufsTer26) c.4692del (p.Val1565LeufsTer26) c.4812del (p.Val1605LeufsTer26) c.4740del (p.Val1581LeufsTer26) c.1506del (p.Val503LeufsTer26) c.1368del (p.Val457LeufsTer26) c.3930del (p.Val1311LeufsTer26) c.4695del (p.Val1566LeufsTer26) c.4884del (p.Val1629LeufsTer26) c.4677del (p.Val1560LeufsTer26) c.1380del (p.Val461LeufsTer26) c.1425del (p.Val476LeufsTer26) c.4881del (p.Val1628LeufsTer26) c.1205del c.1392del (p.Val465LeufsTer26) c.4601del (n.4601del) c.1131del (p.Val378LeufsTer26) c.5-7145del (n.5-7145del) c.291del (p.Val98LeufsTer26) c.-98-20906del (n.-98-20906del) n.4954del n.4995del	ClinVar dbSNP
17	g.43071097T>A	CA10591886	BRCA1	c.4814A>T (p.Lys1605Ile) c.4817A>T (p.Lys1606Ile) c.4691A>T (p.Lys1564Ile) c.4811A>T (p.Lys1604Ile) c.4739A>T (p.Lys1580Ile) c.1505A>T (p.Lys502Ile) c.1367A>T (p.Lys456Ile) c.3929A>T (p.Lys1310Ile) c.4694A>T (p.Lys1565Ile) c.4883A>T (p.Lys1628Ile) c.4676A>T (p.Lys1559Ile) c.1379A>T (p.Lys460Ile) c.1424A>T (p.Lys475Ile) c.4880A>T (p.Lys1627Ile) c.1204A>T c.1391A>T (p.Lys464Ile) c.4600A>T (n.4600A>T) c.1130A>T (p.Lys377Ile) c.5-7146A>T (n.5-7146A>T) c.290A>T (p.Lys97Ile) c.-98-20907A>T (n.-98-20907A>T) n.4953A>T n.4994A>T	dbSNP
17	g.43071097T>C	CA10591887	BRCA1	c.4814A>G (p.Lys1605Arg) c.4817A>G (p.Lys1606Arg) c.4691A>G (p.Lys1564Arg) c.4811A>G (p.Lys1604Arg) c.4739A>G (p.Lys1580Arg) c.1505A>G (p.Lys502Arg) c.1367A>G (p.Lys456Arg) c.3929A>G (p.Lys1310Arg) c.4694A>G (p.Lys1565Arg) c.4883A>G (p.Lys1628Arg) c.4676A>G (p.Lys1559Arg) c.1379A>G (p.Lys460Arg) c.1424A>G (p.Lys475Arg) c.4880A>G (p.Lys1627Arg) c.1204A>G c.1391A>G (p.Lys464Arg) c.4600A>G (n.4600A>G) c.1130A>G (p.Lys377Arg) c.5-7146A>G (n.5-7146A>G) c.290A>G (p.Lys97Arg) c.-98-20907A>G (n.-98-20907A>G) n.4953A>G n.4994A>G
17	g.43071097T>G	CA10591888	BRCA1	c.4814A>C (p.Lys1605Thr) c.4817A>C (p.Lys1606Thr) c.4691A>C (p.Lys1564Thr) c.4811A>C (p.Lys1604Thr) c.4739A>C (p.Lys1580Thr) c.1505A>C (p.Lys502Thr) c.1367A>C (p.Lys456Thr) c.3929A>C (p.Lys1310Thr) c.4694A>C (p.Lys1565Thr) c.4883A>C (p.Lys1628Thr) c.4676A>C (p.Lys1559Thr) c.1379A>C (p.Lys460Thr) c.1424A>C (p.Lys475Thr) c.4880A>C (p.Lys1627Thr) c.1204A>C c.1391A>C (p.Lys464Thr) c.4600A>C (n.4600A>C) c.1130A>C (p.Lys377Thr) c.5-7146A>C (n.5-7146A>C) c.290A>C (p.Lys97Thr) c.-98-20907A>C (n.-98-20907A>C) n.4953A>C n.4994A>C
17	g.43071098T>A	CA10591889	BRCA1	c.4813A>T (p.Lys1605Ter) c.4816A>T (p.Lys1606Ter) c.4690A>T (p.Lys1564Ter) c.4810A>T (p.Lys1604Ter) c.4738A>T (p.Lys1580Ter) c.1504A>T (p.Lys502Ter) c.1366A>T (p.Lys456Ter) c.3928A>T (p.Lys1310Ter) c.4693A>T (p.Lys1565Ter) c.4882A>T (p.Lys1628Ter) c.4675A>T (p.Lys1559Ter) c.1378A>T (p.Lys460Ter) c.1423A>T (p.Lys475Ter) c.4879A>T (p.Lys1627Ter) c.1203A>T c.1390A>T (p.Lys464Ter) c.4599A>T (n.4599A>T) c.1129A>T (p.Lys377Ter) c.5-7147A>T (n.5-7147A>T) c.289A>T (p.Lys97Ter) c.-98-20908A>T (n.-98-20908A>T) n.4952A>T n.4993A>T	dbSNP
17	g.43071098T>C	CA003037	BRCA1	c.4813A>G (p.Lys1605Glu) c.4816A>G (p.Lys1606Glu) c.4690A>G (p.Lys1564Glu) c.4810A>G (p.Lys1604Glu) c.4738A>G (p.Lys1580Glu) c.1504A>G (p.Lys502Glu) c.1366A>G (p.Lys456Glu) c.3928A>G (p.Lys1310Glu) c.4693A>G (p.Lys1565Glu) c.4882A>G (p.Lys1628Glu) c.4675A>G (p.Lys1559Glu) c.1378A>G (p.Lys460Glu) c.1423A>G (p.Lys475Glu) c.4879A>G (p.Lys1627Glu) c.1203A>G c.1390A>G (p.Lys464Glu) c.4599A>G (n.4599A>G) c.1129A>G (p.Lys377Glu) c.5-7147A>G (n.5-7147A>G) c.289A>G (p.Lys97Glu) c.-98-20908A>G (n.-98-20908A>G) n.4952A>G n.4993A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071098T>G	CA10591890	BRCA1	c.4813A>C (p.Lys1605Gln) c.4816A>C (p.Lys1606Gln) c.4690A>C (p.Lys1564Gln) c.4810A>C (p.Lys1604Gln) c.4738A>C (p.Lys1580Gln) c.1504A>C (p.Lys502Gln) c.1366A>C (p.Lys456Gln) c.3928A>C (p.Lys1310Gln) c.4693A>C (p.Lys1565Gln) c.4882A>C (p.Lys1628Gln) c.4675A>C (p.Lys1559Gln) c.1378A>C (p.Lys460Gln) c.1423A>C (p.Lys475Gln) c.4879A>C (p.Lys1627Gln) c.1203A>C c.1390A>C (p.Lys464Gln) c.4599A>C (n.4599A>C) c.1129A>C (p.Lys377Gln) c.5-7147A>C (n.5-7147A>C) c.289A>C (p.Lys97Gln) c.-98-20908A>C (n.-98-20908A>C) n.4952A>C n.4993A>C
17	g.43071098T=	CA2260772913	BRCA1	c.4813A= (p.Lys1605=) c.4816A= (p.Lys1606=) c.4690A= (p.Lys1564=) c.4810A= (p.Lys1604=) c.4738A= (p.Lys1580=) c.1504A= (p.Lys502=) c.1366A= (p.Lys456=) c.3928A= (p.Lys1310=) c.4693A= (p.Lys1565=) c.4882A= (p.Lys1628=) c.4675A= (p.Lys1559=) c.1378A= (p.Lys460=) c.1423A= (p.Lys475=) c.4879A= (p.Lys1627=) c.1203A= c.1390A= (p.Lys464=) c.4599A= (n.4599A=) c.1129A= (p.Lys377=) c.5-7147A= (n.5-7147A=) c.289A= (p.Lys97=) c.-98-20908A= (n.-98-20908A=) n.4952A= n.4993A=
17	g.43071099del	CA1139771847	BRCA1	c.4812del (p.Val1606LeufsTer26) c.4815del (p.Val1607LeufsTer26) c.4689del (p.Val1565LeufsTer26) c.4809del (p.Val1605LeufsTer26) c.4737del (p.Val1581LeufsTer26) c.1503del (p.Val503LeufsTer26) c.1365del (p.Val457LeufsTer26) c.3927del (p.Val1311LeufsTer26) c.4692del (p.Val1566LeufsTer26) c.4881del (p.Val1629LeufsTer26) c.4674del (p.Val1560LeufsTer26) c.1377del (p.Val461LeufsTer26) c.1422del (p.Val476LeufsTer26) c.4878del (p.Val1628LeufsTer26) c.1202del c.1389del (p.Val465LeufsTer26) c.4598del (n.4598del) c.1128del (p.Val378LeufsTer26) c.5-7148del (n.5-7148del) c.288del (p.Val98LeufsTer26) c.-98-20909del (n.-98-20909del) n.4951del n.4992del
17	g.43071099C>A	CA10591891	BRCA1	c.4812G>T (p.Leu1604Phe) c.4815G>T (p.Leu1605Phe) c.4689G>T (p.Leu1563Phe) c.4809G>T (p.Leu1603Phe) c.4737G>T (p.Leu1579Phe) c.1503G>T (p.Leu501Phe) c.1365G>T (p.Leu455Phe) c.3927G>T (p.Leu1309Phe) c.4692G>T (p.Leu1564Phe) c.4881G>T (p.Leu1627Phe) c.4674G>T (p.Leu1558Phe) c.1377G>T (p.Leu459Phe) c.1422G>T (p.Leu474Phe) c.4878G>T (p.Leu1626Phe) c.1202G>T c.1389G>T (p.Leu463Phe) c.4598G>T (n.4598G>T) c.1128G>T (p.Leu376Phe) c.5-7148G>T (n.5-7148G>T) c.288G>T (p.Leu96Phe) c.-98-20909G>T (n.-98-20909G>T) n.4951G>T n.4992G>T
17	g.43071099C=	CA2260772914	BRCA1	c.4812G= (p.Leu1604=) c.4815G= (p.Leu1605=) c.4689G= (p.Leu1563=) c.4809G= (p.Leu1603=) c.4737G= (p.Leu1579=) c.1503G= (p.Leu501=) c.1365G= (p.Leu455=) c.3927G= (p.Leu1309=) c.4692G= (p.Leu1564=) c.4881G= (p.Leu1627=) c.4674G= (p.Leu1558=) c.1377G= (p.Leu459=) c.1422G= (p.Leu474=) c.4878G= (p.Leu1626=) c.1202G= c.1389G= (p.Leu463=) c.4598G= (n.4598G=) c.1128G= (p.Leu376=) c.5-7148G= (n.5-7148G=) c.288G= (p.Leu96=) c.-98-20909G= (n.-98-20909G=) n.4951G= n.4992G=
17	g.43071099C>G	CA10591892	BRCA1	c.4812G>C (p.Leu1604Phe) c.4815G>C (p.Leu1605Phe) c.4689G>C (p.Leu1563Phe) c.4809G>C (p.Leu1603Phe) c.4737G>C (p.Leu1579Phe) c.1503G>C (p.Leu501Phe) c.1365G>C (p.Leu455Phe) c.3927G>C (p.Leu1309Phe) c.4692G>C (p.Leu1564Phe) c.4881G>C (p.Leu1627Phe) c.4674G>C (p.Leu1558Phe) c.1377G>C (p.Leu459Phe) c.1422G>C (p.Leu474Phe) c.4878G>C (p.Leu1626Phe) c.1202G>C c.1389G>C (p.Leu463Phe) c.4598G>C (n.4598G>C) c.1128G>C (p.Leu376Phe) c.5-7148G>C (n.5-7148G>C) c.288G>C (p.Leu96Phe) c.-98-20909G>C (n.-98-20909G>C) n.4951G>C n.4992G>C	dbSNP
17	g.43071099C>T	CA16615756	BRCA1	c.4812G>A (p.Leu1604=) c.4815G>A (p.Leu1605=) c.4689G>A (p.Leu1563=) c.4809G>A (p.Leu1603=) c.4737G>A (p.Leu1579=) c.1503G>A (p.Leu501=) c.1365G>A (p.Leu455=) c.3927G>A (p.Leu1309=) c.4692G>A (p.Leu1564=) c.4881G>A (p.Leu1627=) c.4674G>A (p.Leu1558=) c.1377G>A (p.Leu459=) c.1422G>A (p.Leu474=) c.4878G>A (p.Leu1626=) c.1202G>A c.1389G>A (p.Leu463=) c.4598G>A (n.4598G>A) c.1128G>A (p.Leu376=) c.5-7148G>A (n.5-7148G>A) c.288G>A (p.Leu96=) c.-98-20909G>A (n.-98-20909G>A) n.4951G>A n.4992G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.43071100A=	CA2260772915	BRCA1	c.4811T= (p.Leu1604=) c.4814T= (p.Leu1605=) c.4688T= (p.Leu1563=) c.4808T= (p.Leu1603=) c.4736T= (p.Leu1579=) c.1502T= (p.Leu501=) c.1364T= (p.Leu455=) c.3926T= (p.Leu1309=) c.4691T= (p.Leu1564=) c.4880T= (p.Leu1627=) c.4673T= (p.Leu1558=) c.1376T= (p.Leu459=) c.1421T= (p.Leu474=) c.4877T= (p.Leu1626=) c.1201T= c.1388T= (p.Leu463=) c.4597T= (n.4597T=) c.1127T= (p.Leu376=) c.5-7149T= (n.5-7149T=) c.287T= (p.Leu96=) c.-98-20910T= (n.-98-20910T=) n.4950T= n.4991T=
17	g.43071100A>C	CA10591893	BRCA1	c.4811T>G (p.Leu1604Trp) c.4814T>G (p.Leu1605Trp) c.4688T>G (p.Leu1563Trp) c.4808T>G (p.Leu1603Trp) c.4736T>G (p.Leu1579Trp) c.1502T>G (p.Leu501Trp) c.1364T>G (p.Leu455Trp) c.3926T>G (p.Leu1309Trp) c.4691T>G (p.Leu1564Trp) c.4880T>G (p.Leu1627Trp) c.4673T>G (p.Leu1558Trp) c.1376T>G (p.Leu459Trp) c.1421T>G (p.Leu474Trp) c.4877T>G (p.Leu1626Trp) c.1201T>G c.1388T>G (p.Leu463Trp) c.4597T>G (n.4597T>G) c.1127T>G (p.Leu376Trp) c.5-7149T>G (n.5-7149T>G) c.287T>G (p.Leu96Trp) c.-98-20910T>G (n.-98-20910T>G) n.4950T>G n.4991T>G
17	g.43071100A>G	CA10591894	BRCA1	c.4811T>C (p.Leu1604Ser) c.4814T>C (p.Leu1605Ser) c.4688T>C (p.Leu1563Ser) c.4808T>C (p.Leu1603Ser) c.4736T>C (p.Leu1579Ser) c.1502T>C (p.Leu501Ser) c.1364T>C (p.Leu455Ser) c.3926T>C (p.Leu1309Ser) c.4691T>C (p.Leu1564Ser) c.4880T>C (p.Leu1627Ser) c.4673T>C (p.Leu1558Ser) c.1376T>C (p.Leu459Ser) c.1421T>C (p.Leu474Ser) c.4877T>C (p.Leu1626Ser) c.1201T>C c.1388T>C (p.Leu463Ser) c.4597T>C (n.4597T>C) c.1127T>C (p.Leu376Ser) c.5-7149T>C (n.5-7149T>C) c.287T>C (p.Leu96Ser) c.-98-20910T>C (n.-98-20910T>C) n.4950T>C n.4991T>C	ClinVar dbSNP
17	g.43071100A>T	CA10591895	BRCA1	c.4811T>A (p.Leu1604Ter) c.4814T>A (p.Leu1605Ter) c.4688T>A (p.Leu1563Ter) c.4808T>A (p.Leu1603Ter) c.4736T>A (p.Leu1579Ter) c.1502T>A (p.Leu501Ter) c.1364T>A (p.Leu455Ter) c.3926T>A (p.Leu1309Ter) c.4691T>A (p.Leu1564Ter) c.4880T>A (p.Leu1627Ter) c.4673T>A (p.Leu1558Ter) c.1376T>A (p.Leu459Ter) c.1421T>A (p.Leu474Ter) c.4877T>A (p.Leu1626Ter) c.1201T>A c.1388T>A (p.Leu463Ter) c.4597T>A (n.4597T>A) c.1127T>A (p.Leu376Ter) c.5-7149T>A (n.5-7149T>A) c.287T>A (p.Leu96Ter) c.-98-20910T>A (n.-98-20910T>A) n.4950T>A n.4991T>A	dbSNP
17	g.43071102_43071103insAAAT	CA916080196	BRCA1	c.4811_4812insTATT (p.Leu1604PhefsTer18) c.4814_4815insTATT (p.Leu1605PhefsTer18) c.4688_4689insTATT (p.Leu1563PhefsTer18) c.4808_4809insTATT (p.Leu1603PhefsTer18) c.4736_4737insTATT (p.Leu1579PhefsTer18) c.1502_1503insTATT (p.Leu501PhefsTer18) c.1364_1365insTATT (p.Leu455PhefsTer18) c.3926_3927insTATT (p.Leu1309PhefsTer18) c.4691_4692insTATT (p.Leu1564PhefsTer18) c.4880_4881insTATT (p.Leu1627PhefsTer18) c.4673_4674insTATT (p.Leu1558PhefsTer18) c.1376_1377insTATT (p.Leu459PhefsTer18) c.1421_1422insTATT (p.Leu474PhefsTer18) c.4877_4878insTATT (p.Leu1626PhefsTer18) c.1201_1202insTATT c.1388_1389insTATT (p.Leu463PhefsTer18) c.4597_4598insTATT (n.4597_4598insTATT) c.1127_1128insTATT (p.Leu376PhefsTer18) c.5-7149_5-7148insTATT (n.5-7149_5-7148insTATT) c.287_288insTATT (p.Leu96PhefsTer18) c.-98-20910_-98-20909insTATT (n.-98-20910_-98-20909insTATT) n.4950_4951insTATT n.4991_4992insTATT	ClinVar dbSNP
17	g.43071101A=	CA2260772916	BRCA1	c.4810T= (p.Leu1604=) c.4813T= (p.Leu1605=) c.4687T= (p.Leu1563=) c.4807T= (p.Leu1603=) c.4735T= (p.Leu1579=) c.1501T= (p.Leu501=) c.1363T= (p.Leu455=) c.3925T= (p.Leu1309=) c.4690T= (p.Leu1564=) c.4879T= (p.Leu1627=) c.4672T= (p.Leu1558=) c.1375T= (p.Leu459=) c.1420T= (p.Leu474=) c.4876T= (p.Leu1626=) c.1200T= c.1387T= (p.Leu463=) c.4596T= (n.4596T=) c.1126T= (p.Leu376=) c.5-7150T= (n.5-7150T=) c.286T= (p.Leu96=) c.-98-20911T= (n.-98-20911T=) n.4949T= n.4990T=
17	g.43071101A>C	CA003036	BRCA1	c.4810T>G (p.Leu1604Val) c.4813T>G (p.Leu1605Val) c.4687T>G (p.Leu1563Val) c.4807T>G (p.Leu1603Val) c.4735T>G (p.Leu1579Val) c.1501T>G (p.Leu501Val) c.1363T>G (p.Leu455Val) c.3925T>G (p.Leu1309Val) c.4690T>G (p.Leu1564Val) c.4879T>G (p.Leu1627Val) c.4672T>G (p.Leu1558Val) c.1375T>G (p.Leu459Val) c.1420T>G (p.Leu474Val) c.4876T>G (p.Leu1626Val) c.1200T>G c.1387T>G (p.Leu463Val) c.4596T>G (n.4596T>G) c.1126T>G (p.Leu376Val) c.5-7150T>G (n.5-7150T>G) c.286T>G (p.Leu96Val) c.-98-20911T>G (n.-98-20911T>G) n.4949T>G n.4990T>G	ClinVar dbSNP
17	g.43071101A>G	CA003035	BRCA1	c.4810T>C (p.Leu1604=) c.4813T>C (p.Leu1605=) c.4687T>C (p.Leu1563=) c.4807T>C (p.Leu1603=) c.4735T>C (p.Leu1579=) c.1501T>C (p.Leu501=) c.1363T>C (p.Leu455=) c.3925T>C (p.Leu1309=) c.4690T>C (p.Leu1564=) c.4879T>C (p.Leu1627=) c.4672T>C (p.Leu1558=) c.1375T>C (p.Leu459=) c.1420T>C (p.Leu474=) c.4876T>C (p.Leu1626=) c.1200T>C c.1387T>C (p.Leu463=) c.4596T>C (n.4596T>C) c.1126T>C (p.Leu376=) c.5-7150T>C (n.5-7150T>C) c.286T>C (p.Leu96=) c.-98-20911T>C (n.-98-20911T>C) n.4949T>C n.4990T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071101A>T	CA003034	BRCA1	c.4810T>A (p.Leu1604Met) c.4813T>A (p.Leu1605Met) c.4687T>A (p.Leu1563Met) c.4807T>A (p.Leu1603Met) c.4735T>A (p.Leu1579Met) c.1501T>A (p.Leu501Met) c.1363T>A (p.Leu455Met) c.3925T>A (p.Leu1309Met) c.4690T>A (p.Leu1564Met) c.4879T>A (p.Leu1627Met) c.4672T>A (p.Leu1558Met) c.1375T>A (p.Leu459Met) c.1420T>A (p.Leu474Met) c.4876T>A (p.Leu1626Met) c.1200T>A c.1387T>A (p.Leu463Met) c.4596T>A (n.4596T>A) c.1126T>A (p.Leu376Met) c.5-7150T>A (n.5-7150T>A) c.286T>A (p.Leu96Met) c.-98-20911T>A (n.-98-20911T>A) n.4949T>A n.4990T>A	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.43071102T>A	CA10591896	BRCA1	c.4809A>T (p.Gln1603His) c.4812A>T (p.Gln1604His) c.4686A>T (p.Gln1562His) c.4806A>T (p.Gln1602His) c.4734A>T (p.Gln1578His) c.1500A>T (p.Gln500His) c.1362A>T (p.Gln454His) c.3924A>T (p.Gln1308His) c.4689A>T (p.Gln1563His) c.4878A>T (p.Gln1626His) c.4671A>T (p.Gln1557His) c.1374A>T (p.Gln458His) c.1419A>T (p.Gln473His) c.4875A>T (p.Gln1625His) c.1199A>T c.1386A>T (p.Gln462His) c.4595A>T (n.4595A>T) c.1125A>T (p.Gln375His) c.5-7151A>T (n.5-7151A>T) c.285A>T (p.Gln95His) c.-98-20912A>T (n.-98-20912A>T) n.4948A>T n.4989A>T	dbSNP
17	g.43071102T>C	CA003033	BRCA1	c.4809A>G (p.Gln1603=) c.4812A>G (p.Gln1604=) c.4686A>G (p.Gln1562=) c.4806A>G (p.Gln1602=) c.4734A>G (p.Gln1578=) c.1500A>G (p.Gln500=) c.1362A>G (p.Gln454=) c.3924A>G (p.Gln1308=) c.4689A>G (p.Gln1563=) c.4878A>G (p.Gln1626=) c.4671A>G (p.Gln1557=) c.1374A>G (p.Gln458=) c.1419A>G (p.Gln473=) c.4875A>G (p.Gln1625=) c.1199A>G c.1386A>G (p.Gln462=) c.4595A>G (n.4595A>G) c.1125A>G (p.Gln375=) c.5-7151A>G (n.5-7151A>G) c.285A>G (p.Gln95=) c.-98-20912A>G (n.-98-20912A>G) n.4948A>G n.4989A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071102T>G	CA10591897	BRCA1	c.4809A>C (p.Gln1603His) c.4812A>C (p.Gln1604His) c.4686A>C (p.Gln1562His) c.4806A>C (p.Gln1602His) c.4734A>C (p.Gln1578His) c.1500A>C (p.Gln500His) c.1362A>C (p.Gln454His) c.3924A>C (p.Gln1308His) c.4689A>C (p.Gln1563His) c.4878A>C (p.Gln1626His) c.4671A>C (p.Gln1557His) c.1374A>C (p.Gln458His) c.1419A>C (p.Gln473His) c.4875A>C (p.Gln1625His) c.1199A>C c.1386A>C (p.Gln462His) c.4595A>C (n.4595A>C) c.1125A>C (p.Gln375His) c.5-7151A>C (n.5-7151A>C) c.285A>C (p.Gln95His) c.-98-20912A>C (n.-98-20912A>C) n.4948A>C n.4989A>C
17	g.43071102T=	CA2260772917	BRCA1	c.4809A= (p.Gln1603=) c.4812A= (p.Gln1604=) c.4686A= (p.Gln1562=) c.4806A= (p.Gln1602=) c.4734A= (p.Gln1578=) c.1500A= (p.Gln500=) c.1362A= (p.Gln454=) c.3924A= (p.Gln1308=) c.4689A= (p.Gln1563=) c.4878A= (p.Gln1626=) c.4671A= (p.Gln1557=) c.1374A= (p.Gln458=) c.1419A= (p.Gln473=) c.4875A= (p.Gln1625=) c.1199A= c.1386A= (p.Gln462=) c.4595A= (n.4595A=) c.1125A= (p.Gln375=) c.5-7151A= (n.5-7151A=) c.285A= (p.Gln95=) c.-98-20912A= (n.-98-20912A=) n.4948A= n.4989A=
17	g.43071102_43071127del	CA2695225907	BRCA1	c.4784_4809del (p.Ser1595PhefsTer17) c.4787_4812del (p.Ser1596PhefsTer17) c.4661_4686del (p.Ser1554PhefsTer17) c.4781_4806del (p.Ser1594PhefsTer17) c.4709_4734del (p.Ser1570PhefsTer17) c.1475_1500del (p.Ser492PhefsTer17) c.1337_1362del (p.Ser446PhefsTer17) c.3899_3924del (p.Ser1300PhefsTer17) c.4664_4689del (p.Ser1555PhefsTer17) c.4853_4878del (p.Ser1618PhefsTer17) c.4646_4671del (p.Ser1549PhefsTer17) c.1349_1374del (p.Ser450PhefsTer17) c.1394_1419del (p.Ser465PhefsTer17) c.4850_4875del (p.Ser1617PhefsTer17) c.1174_1199del c.1361_1386del (p.Ser454PhefsTer17) c.4570_4595del (n.4570_4595del) c.1100_1125del (p.Ser367PhefsTer17) c.5-7176_5-7151del (n.5-7176_5-7151del) c.260_285del (p.Ser87PhefsTer17) c.-98-20937_-98-20912del (n.-98-20937_-98-20912del) n.4923_4948del n.4964_4989del
17	g.43071103T>A	CA10591898	BRCA1	c.4808A>T (p.Gln1603Leu) c.4811A>T (p.Gln1604Leu) c.4685A>T (p.Gln1562Leu) c.4805A>T (p.Gln1602Leu) c.4733A>T (p.Gln1578Leu) c.1499A>T (p.Gln500Leu) c.1361A>T (p.Gln454Leu) c.3923A>T (p.Gln1308Leu) c.4688A>T (p.Gln1563Leu) c.4877A>T (p.Gln1626Leu) c.4670A>T (p.Gln1557Leu) c.1373A>T (p.Gln458Leu) c.1418A>T (p.Gln473Leu) c.4874A>T (p.Gln1625Leu) c.1198A>T c.1385A>T (p.Gln462Leu) c.4594A>T (n.4594A>T) c.1124A>T (p.Gln375Leu) c.5-7152A>T (n.5-7152A>T) c.284A>T (p.Gln95Leu) c.-98-20913A>T (n.-98-20913A>T) n.4947A>T n.4988A>T	dbSNP
17	g.43071103T>C	CA003032	BRCA1	c.4808A>G (p.Gln1603Arg) c.4811A>G (p.Gln1604Arg) c.4685A>G (p.Gln1562Arg) c.4805A>G (p.Gln1602Arg) c.4733A>G (p.Gln1578Arg) c.1499A>G (p.Gln500Arg) c.1361A>G (p.Gln454Arg) c.3923A>G (p.Gln1308Arg) c.4688A>G (p.Gln1563Arg) c.4877A>G (p.Gln1626Arg) c.4670A>G (p.Gln1557Arg) c.1373A>G (p.Gln458Arg) c.1418A>G (p.Gln473Arg) c.4874A>G (p.Gln1625Arg) c.1198A>G c.1385A>G (p.Gln462Arg) c.4594A>G (n.4594A>G) c.1124A>G (p.Gln375Arg) c.5-7152A>G (n.5-7152A>G) c.284A>G (p.Gln95Arg) c.-98-20913A>G (n.-98-20913A>G) n.4947A>G n.4988A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.43071103T>G	CA10591899	BRCA1	c.4808A>C (p.Gln1603Pro) c.4811A>C (p.Gln1604Pro) c.4685A>C (p.Gln1562Pro) c.4805A>C (p.Gln1602Pro) c.4733A>C (p.Gln1578Pro) c.1499A>C (p.Gln500Pro) c.1361A>C (p.Gln454Pro) c.3923A>C (p.Gln1308Pro) c.4688A>C (p.Gln1563Pro) c.4877A>C (p.Gln1626Pro) c.4670A>C (p.Gln1557Pro) c.1373A>C (p.Gln458Pro) c.1418A>C (p.Gln473Pro) c.4874A>C (p.Gln1625Pro) c.1198A>C c.1385A>C (p.Gln462Pro) c.4594A>C (n.4594A>C) c.1124A>C (p.Gln375Pro) c.5-7152A>C (n.5-7152A>C) c.284A>C (p.Gln95Pro) c.-98-20913A>C (n.-98-20913A>C) n.4947A>C n.4988A>C
17	g.43071103T=	CA2260772918	BRCA1	c.4808A= (p.Gln1603=) c.4811A= (p.Gln1604=) c.4685A= (p.Gln1562=) c.4805A= (p.Gln1602=) c.4733A= (p.Gln1578=) c.1499A= (p.Gln500=) c.1361A= (p.Gln454=) c.3923A= (p.Gln1308=) c.4688A= (p.Gln1563=) c.4877A= (p.Gln1626=) c.4670A= (p.Gln1557=) c.1373A= (p.Gln458=) c.1418A= (p.Gln473=) c.4874A= (p.Gln1625=) c.1198A= c.1385A= (p.Gln462=) c.4594A= (n.4594A=) c.1124A= (p.Gln375=) c.5-7152A= (n.5-7152A=) c.284A= (p.Gln95=) c.-98-20913A= (n.-98-20913A=) n.4947A= n.4988A=
17	g.43071103_43071104delinsTG	CA2260772919	BRCA1	c.4807_4808delinsCA (p.Gln1603=) c.4810_4811delinsCA (p.Gln1604=) c.4684_4685delinsCA (p.Gln1562=) c.4804_4805delinsCA (p.Gln1602=) c.4732_4733delinsCA (p.Gln1578=) c.1498_1499delinsCA (p.Gln500=) c.1360_1361delinsCA (p.Gln454=) c.3922_3923delinsCA (p.Gln1308=) c.4687_4688delinsCA (p.Gln1563=) c.4876_4877delinsCA (p.Gln1626=) c.4669_4670delinsCA (p.Gln1557=) c.1372_1373delinsCA (p.Gln458=) c.1417_1418delinsCA (p.Gln473=) c.4873_4874delinsCA (p.Gln1625=) c.1197_1198delinsCA c.1384_1385delinsCA (p.Gln462=) c.4593_4594delinsCA (n.4593_4594delinsCA) c.1123_1124delinsCA (p.Gln375=) c.5-7153_5-7152delinsCA (n.5-7153_5-7152delinsCA) c.283_284delinsCA (p.Gln95=) c.-98-20914_-98-20913delinsCA (n.-98-20914_-98-20913delinsCA) n.4946_4947delinsCA n.4987_4988delinsCA
17	g.43071104G>A	CA003031	BRCA1	c.4807C>T (p.Gln1603Ter) c.4810C>T (p.Gln1604Ter) c.4684C>T (p.Gln1562Ter) c.4804C>T (p.Gln1602Ter) c.4732C>T (p.Gln1578Ter) c.1498C>T (p.Gln500Ter) c.1360C>T (p.Gln454Ter) c.3922C>T (p.Gln1308Ter) c.4687C>T (p.Gln1563Ter) c.4876C>T (p.Gln1626Ter) c.4669C>T (p.Gln1557Ter) c.1372C>T (p.Gln458Ter) c.1417C>T (p.Gln473Ter) c.4873C>T (p.Gln1625Ter) c.1197C>T c.1384C>T (p.Gln462Ter) c.4593C>T (n.4593C>T) c.1123C>T (p.Gln375Ter) c.5-7153C>T (n.5-7153C>T) c.283C>T (p.Gln95Ter) c.-98-20914C>T (n.-98-20914C>T) n.4946C>T n.4987C>T	ClinVar dbSNP COSMIC COSMIC
17	g.43071104G>C	CA10591900	BRCA1	c.4807C>G (p.Gln1603Glu) c.4810C>G (p.Gln1604Glu) c.4684C>G (p.Gln1562Glu) c.4804C>G (p.Gln1602Glu) c.4732C>G (p.Gln1578Glu) c.1498C>G (p.Gln500Glu) c.1360C>G (p.Gln454Glu) c.3922C>G (p.Gln1308Glu) c.4687C>G (p.Gln1563Glu) c.4876C>G (p.Gln1626Glu) c.4669C>G (p.Gln1557Glu) c.1372C>G (p.Gln458Glu) c.1417C>G (p.Gln473Glu) c.4873C>G (p.Gln1625Glu) c.1197C>G c.1384C>G (p.Gln462Glu) c.4593C>G (n.4593C>G) c.1123C>G (p.Gln375Glu) c.5-7153C>G (n.5-7153C>G) c.283C>G (p.Gln95Glu) c.-98-20914C>G (n.-98-20914C>G) n.4946C>G n.4987C>G	ClinVar dbSNP
17	g.43071104G=	CA2260772920	BRCA1	c.4807C= (p.Gln1603=) c.4810C= (p.Gln1604=) c.4684C= (p.Gln1562=) c.4804C= (p.Gln1602=) c.4732C= (p.Gln1578=) c.1498C= (p.Gln500=) c.1360C= (p.Gln454=) c.3922C= (p.Gln1308=) c.4687C= (p.Gln1563=) c.4876C= (p.Gln1626=) c.4669C= (p.Gln1557=) c.1372C= (p.Gln458=) c.1417C= (p.Gln473=) c.4873C= (p.Gln1625=) c.1197C= c.1384C= (p.Gln462=) c.4593C= (n.4593C=) c.1123C= (p.Gln375=) c.5-7153C= (n.5-7153C=) c.283C= (p.Gln95=) c.-98-20914C= (n.-98-20914C=) n.4946C= n.4987C=
17	g.43071104G>T	CA10591901	BRCA1	c.4807C>A (p.Gln1603Lys) c.4810C>A (p.Gln1604Lys) c.4684C>A (p.Gln1562Lys) c.4804C>A (p.Gln1602Lys) c.4732C>A (p.Gln1578Lys) c.1498C>A (p.Gln500Lys) c.1360C>A (p.Gln454Lys) c.3922C>A (p.Gln1308Lys) c.4687C>A (p.Gln1563Lys) c.4876C>A (p.Gln1626Lys) c.4669C>A (p.Gln1557Lys) c.1372C>A (p.Gln458Lys) c.1417C>A (p.Gln473Lys) c.4873C>A (p.Gln1625Lys) c.1197C>A c.1384C>A (p.Gln462Lys) c.4593C>A (n.4593C>A) c.1123C>A (p.Gln375Lys) c.5-7153C>A (n.5-7153C>A) c.283C>A (p.Gln95Lys) c.-98-20914C>A (n.-98-20914C>A) n.4946C>A n.4987C>A	ClinVar dbSNP
17	g.43071107del	CA658825007	BRCA1	c.4807del (p.Gln1603AsnfsTer2) c.4810del (p.Gln1604AsnfsTer2) c.4684del (p.Gln1562AsnfsTer2) c.4804del (p.Gln1602AsnfsTer2) c.4732del (p.Gln1578AsnfsTer2) c.1498del (p.Gln500AsnfsTer2) c.1360del (p.Gln454AsnfsTer2) c.3922del (p.Gln1308AsnfsTer2) c.4687del (p.Gln1563AsnfsTer2) c.4876del (p.Gln1626AsnfsTer2) c.4669del (p.Gln1557AsnfsTer2) c.1372del (p.Gln458AsnfsTer2) c.1417del (p.Gln473AsnfsTer2) c.4873del (p.Gln1625AsnfsTer2) c.1197del c.1384del (p.Gln462AsnfsTer2) c.4593del (n.4593del) c.1123del (p.Gln375AsnfsTer2) c.5-7153del (n.5-7153del) c.283del (p.Gln95AsnfsTer2) c.-98-20914del (n.-98-20914del) n.4946del n.4987del	ClinVar dbSNP
17	g.43071105G>A	CA500231824	BRCA1	c.4806C>T (p.Pro1602=) c.4809C>T (p.Pro1603=) c.4683C>T (p.Pro1561=) c.4803C>T (p.Pro1601=) c.4731C>T (p.Pro1577=) c.1497C>T (p.Pro499=) c.1359C>T (p.Pro453=) c.3921C>T (p.Pro1307=) c.4686C>T (p.Pro1562=) c.4875C>T (p.Pro1625=) c.4668C>T (p.Pro1556=) c.1371C>T (p.Pro457=) c.1416C>T (p.Pro472=) c.4872C>T (p.Pro1624=) c.1196C>T c.1383C>T (p.Pro461=) c.4592C>T (n.4592C>T) c.1122C>T (p.Pro374=) c.5-7154C>T (n.5-7154C>T) c.282C>T (p.Pro94=) c.-98-20915C>T (n.-98-20915C>T) n.4945C>T n.4986C>T	ClinVar dbSNP
17	g.43071105G>C	CA500231822	BRCA1	c.4806C>G (p.Pro1602=) c.4809C>G (p.Pro1603=) c.4683C>G (p.Pro1561=) c.4803C>G (p.Pro1601=) c.4731C>G (p.Pro1577=) c.1497C>G (p.Pro499=) c.1359C>G (p.Pro453=) c.3921C>G (p.Pro1307=) c.4686C>G (p.Pro1562=) c.4875C>G (p.Pro1625=) c.4668C>G (p.Pro1556=) c.1371C>G (p.Pro457=) c.1416C>G (p.Pro472=) c.4872C>G (p.Pro1624=) c.1196C>G c.1383C>G (p.Pro461=) c.4592C>G (n.4592C>G) c.1122C>G (p.Pro374=) c.5-7154C>G (n.5-7154C>G) c.282C>G (p.Pro94=) c.-98-20915C>G (n.-98-20915C>G) n.4945C>G n.4986C>G	dbSNP
17	g.43071105G>T	CA500231823	BRCA1	c.4806C>A (p.Pro1602=) c.4809C>A (p.Pro1603=) c.4683C>A (p.Pro1561=) c.4803C>A (p.Pro1601=) c.4731C>A (p.Pro1577=) c.1497C>A (p.Pro499=) c.1359C>A (p.Pro453=) c.3921C>A (p.Pro1307=) c.4686C>A (p.Pro1562=) c.4875C>A (p.Pro1625=) c.4668C>A (p.Pro1556=) c.1371C>A (p.Pro457=) c.1416C>A (p.Pro472=) c.4872C>A (p.Pro1624=) c.1196C>A c.1383C>A (p.Pro461=) c.4592C>A (n.4592C>A) c.1122C>A (p.Pro374=) c.5-7154C>A (n.5-7154C>A) c.282C>A (p.Pro94=) c.-98-20915C>A (n.-98-20915C>A) n.4945C>A n.4986C>A	dbSNP
17	g.43071106G>A	CA10591902	BRCA1	c.4805C>T (p.Pro1602Leu) c.4808C>T (p.Pro1603Leu) c.4682C>T (p.Pro1561Leu) c.4802C>T (p.Pro1601Leu) c.4730C>T (p.Pro1577Leu) c.1496C>T (p.Pro499Leu) c.1358C>T (p.Pro453Leu) c.3920C>T (p.Pro1307Leu) c.4685C>T (p.Pro1562Leu) c.4874C>T (p.Pro1625Leu) c.4667C>T (p.Pro1556Leu) c.1370C>T (p.Pro457Leu) c.1415C>T (p.Pro472Leu) c.4871C>T (p.Pro1624Leu) c.1195C>T c.1382C>T (p.Pro461Leu) c.4591C>T (n.4591C>T) c.1121C>T (p.Pro374Leu) c.5-7155C>T (n.5-7155C>T) c.281C>T (p.Pro94Leu) c.-98-20916C>T (n.-98-20916C>T) n.4944C>T n.4985C>T	ClinVar dbSNP
17	g.43071106G>C	CA10591903	BRCA1	c.4805C>G (p.Pro1602Arg) c.4808C>G (p.Pro1603Arg) c.4682C>G (p.Pro1561Arg) c.4802C>G (p.Pro1601Arg) c.4730C>G (p.Pro1577Arg) c.1496C>G (p.Pro499Arg) c.1358C>G (p.Pro453Arg) c.3920C>G (p.Pro1307Arg) c.4685C>G (p.Pro1562Arg) c.4874C>G (p.Pro1625Arg) c.4667C>G (p.Pro1556Arg) c.1370C>G (p.Pro457Arg) c.1415C>G (p.Pro472Arg) c.4871C>G (p.Pro1624Arg) c.1195C>G c.1382C>G (p.Pro461Arg) c.4591C>G (n.4591C>G) c.1121C>G (p.Pro374Arg) c.5-7155C>G (n.5-7155C>G) c.281C>G (p.Pro94Arg) c.-98-20916C>G (n.-98-20916C>G) n.4944C>G n.4985C>G	dbSNP gnomAD v4
17	g.43071106G=	CA2260772921	BRCA1	c.4805C= (p.Pro1602=) c.4808C= (p.Pro1603=) c.4682C= (p.Pro1561=) c.4802C= (p.Pro1601=) c.4730C= (p.Pro1577=) c.1496C= (p.Pro499=) c.1358C= (p.Pro453=) c.3920C= (p.Pro1307=) c.4685C= (p.Pro1562=) c.4874C= (p.Pro1625=) c.4667C= (p.Pro1556=) c.1370C= (p.Pro457=) c.1415C= (p.Pro472=) c.4871C= (p.Pro1624=) c.1195C= c.1382C= (p.Pro461=) c.4591C= (n.4591C=) c.1121C= (p.Pro374=) c.5-7155C= (n.5-7155C=) c.281C= (p.Pro94=) c.-98-20916C= (n.-98-20916C=) n.4944C= n.4985C=
17	g.43071106G>T	CA10591904	BRCA1	c.4805C>A (p.Pro1602His) c.4808C>A (p.Pro1603His) c.4682C>A (p.Pro1561His) c.4802C>A (p.Pro1601His) c.4730C>A (p.Pro1577His) c.1496C>A (p.Pro499His) c.1358C>A (p.Pro453His) c.3920C>A (p.Pro1307His) c.4685C>A (p.Pro1562His) c.4874C>A (p.Pro1625His) c.4667C>A (p.Pro1556His) c.1370C>A (p.Pro457His) c.1415C>A (p.Pro472His) c.4871C>A (p.Pro1624His) c.1195C>A c.1382C>A (p.Pro461His) c.4591C>A (n.4591C>A) c.1121C>A (p.Pro374His) c.5-7155C>A (n.5-7155C>A) c.281C>A (p.Pro94His) c.-98-20916C>A (n.-98-20916C>A) n.4944C>A n.4985C>A	dbSNP
17	g.43071107G>A	CA10591905	BRCA1	c.4804C>T (p.Pro1602Ser) c.4807C>T (p.Pro1603Ser) c.4681C>T (p.Pro1561Ser) c.4801C>T (p.Pro1601Ser) c.4729C>T (p.Pro1577Ser) c.1495C>T (p.Pro499Ser) c.1357C>T (p.Pro453Ser) c.3919C>T (p.Pro1307Ser) c.4684C>T (p.Pro1562Ser) c.4873C>T (p.Pro1625Ser) c.4666C>T (p.Pro1556Ser) c.1369C>T (p.Pro457Ser) c.1414C>T (p.Pro472Ser) c.4870C>T (p.Pro1624Ser) c.1194C>T c.1381C>T (p.Pro461Ser) c.4590C>T (n.4590C>T) c.1120C>T (p.Pro374Ser) c.5-7156C>T (n.5-7156C>T) c.280C>T (p.Pro94Ser) c.-98-20917C>T (n.-98-20917C>T) n.4943C>T n.4984C>T	dbSNP
17	g.43071107G>C	CA10591906	BRCA1	c.4804C>G (p.Pro1602Ala) c.4807C>G (p.Pro1603Ala) c.4681C>G (p.Pro1561Ala) c.4801C>G (p.Pro1601Ala) c.4729C>G (p.Pro1577Ala) c.1495C>G (p.Pro499Ala) c.1357C>G (p.Pro453Ala) c.3919C>G (p.Pro1307Ala) c.4684C>G (p.Pro1562Ala) c.4873C>G (p.Pro1625Ala) c.4666C>G (p.Pro1556Ala) c.1369C>G (p.Pro457Ala) c.1414C>G (p.Pro472Ala) c.4870C>G (p.Pro1624Ala) c.1194C>G c.1381C>G (p.Pro461Ala) c.4590C>G (n.4590C>G) c.1120C>G (p.Pro374Ala) c.5-7156C>G (n.5-7156C>G) c.280C>G (p.Pro94Ala) c.-98-20917C>G (n.-98-20917C>G) n.4943C>G n.4984C>G	dbSNP
17	g.43071107G>T	CA10591907	BRCA1	c.4804C>A (p.Pro1602Thr) c.4807C>A (p.Pro1603Thr) c.4681C>A (p.Pro1561Thr) c.4801C>A (p.Pro1601Thr) c.4729C>A (p.Pro1577Thr) c.1495C>A (p.Pro499Thr) c.1357C>A (p.Pro453Thr) c.3919C>A (p.Pro1307Thr) c.4684C>A (p.Pro1562Thr) c.4873C>A (p.Pro1625Thr) c.4666C>A (p.Pro1556Thr) c.1369C>A (p.Pro457Thr) c.1414C>A (p.Pro472Thr) c.4870C>A (p.Pro1624Thr) c.1194C>A c.1381C>A (p.Pro461Thr) c.4590C>A (n.4590C>A) c.1120C>A (p.Pro374Thr) c.5-7156C>A (n.5-7156C>A) c.280C>A (p.Pro94Thr) c.-98-20917C>A (n.-98-20917C>A) n.4943C>A n.4984C>A	dbSNP COSMIC COSMIC
17	g.43071107_43071108delinsGA	CA2260772922	BRCA1	c.4803_4804delinsTC (p.Val1601=) c.4806_4807delinsTC (p.Val1602=) c.4680_4681delinsTC (p.Val1560=) c.4800_4801delinsTC (p.Val1600=) c.4728_4729delinsTC (p.Val1576=) c.1494_1495delinsTC (p.Val498=) c.1356_1357delinsTC (p.Val452=) c.3918_3919delinsTC (p.Val1306=) c.4683_4684delinsTC (p.Val1561=) c.4872_4873delinsTC (p.Val1624=) c.4665_4666delinsTC (p.Val1555=) c.1368_1369delinsTC (p.Val456=) c.1413_1414delinsTC (p.Val471=) c.4869_4870delinsTC (p.Val1623=) c.1193_1194delinsTC c.1380_1381delinsTC (p.Val460=) c.4589_4590delinsTC (n.4589_4590delinsTC) c.1119_1120delinsTC (p.Val373=) c.5-7157_5-7156delinsTC (n.5-7157_5-7156delinsTC) c.279_280delinsTC (p.Val93=) c.-98-20918_-98-20917delinsTC (n.-98-20918_-98-20917delinsTC) n.4942_4943delinsTC n.4983_4984delinsTC
17	g.43071108A>C	CA500231825	BRCA1	c.4803T>G (p.Val1601=) c.4806T>G (p.Val1602=) c.4680T>G (p.Val1560=) c.4800T>G (p.Val1600=) c.4728T>G (p.Val1576=) c.1494T>G (p.Val498=) c.1356T>G (p.Val452=) c.3918T>G (p.Val1306=) c.4683T>G (p.Val1561=) c.4872T>G (p.Val1624=) c.4665T>G (p.Val1555=) c.1368T>G (p.Val456=) c.1413T>G (p.Val471=) c.4869T>G (p.Val1623=) c.1193T>G c.1380T>G (p.Val460=) c.4589T>G (n.4589T>G) c.1119T>G (p.Val373=) c.5-7157T>G (n.5-7157T>G) c.279T>G (p.Val93=) c.-98-20918T>G (n.-98-20918T>G) n.4942T>G n.4983T>G	ClinVar dbSNP
17	g.43071108A>G	CA500231826	BRCA1	c.4803T>C (p.Val1601=) c.4806T>C (p.Val1602=) c.4680T>C (p.Val1560=) c.4800T>C (p.Val1600=) c.4728T>C (p.Val1576=) c.1494T>C (p.Val498=) c.1356T>C (p.Val452=) c.3918T>C (p.Val1306=) c.4683T>C (p.Val1561=) c.4872T>C (p.Val1624=) c.4665T>C (p.Val1555=) c.1368T>C (p.Val456=) c.1413T>C (p.Val471=) c.4869T>C (p.Val1623=) c.1193T>C c.1380T>C (p.Val460=) c.4589T>C (n.4589T>C) c.1119T>C (p.Val373=) c.5-7157T>C (n.5-7157T>C) c.279T>C (p.Val93=) c.-98-20918T>C (n.-98-20918T>C) n.4942T>C n.4983T>C
17	g.43071108A>T	CA500231827	BRCA1	c.4803T>A (p.Val1601=) c.4806T>A (p.Val1602=) c.4680T>A (p.Val1560=) c.4800T>A (p.Val1600=) c.4728T>A (p.Val1576=) c.1494T>A (p.Val498=) c.1356T>A (p.Val452=) c.3918T>A (p.Val1306=) c.4683T>A (p.Val1561=) c.4872T>A (p.Val1624=) c.4665T>A (p.Val1555=) c.1368T>A (p.Val456=) c.1413T>A (p.Val471=) c.4869T>A (p.Val1623=) c.1193T>A c.1380T>A (p.Val460=) c.4589T>A (n.4589T>A) c.1119T>A (p.Val373=) c.5-7157T>A (n.5-7157T>A) c.279T>A (p.Val93=) c.-98-20918T>A (n.-98-20918T>A) n.4942T>A n.4983T>A	dbSNP
17	g.43071109del	CA10586607	BRCA1	c.4803del (p.Gln1603AsnfsTer2) c.4806del (p.Gln1604AsnfsTer2) c.4680del (p.Gln1562AsnfsTer2) c.4800del (p.Gln1602AsnfsTer2) c.4728del (p.Gln1578AsnfsTer2) c.1494del (p.Gln500AsnfsTer2) c.1356del (p.Gln454AsnfsTer2) c.3918del (p.Gln1308AsnfsTer2) c.4683del (p.Gln1563AsnfsTer2) c.4872del (p.Gln1626AsnfsTer2) c.4665del (p.Gln1557AsnfsTer2) c.1368del (p.Gln458AsnfsTer2) c.1413del (p.Gln473AsnfsTer2) c.4869del (p.Gln1625AsnfsTer2) c.1193del c.1380del (p.Gln462AsnfsTer2) c.4589del (n.4589del) c.1119del (p.Gln375AsnfsTer2) c.5-7157del (n.5-7157del) c.279del (p.Gln95AsnfsTer2) c.-98-20918del (n.-98-20918del) n.4942del n.4983del	ClinVar dbSNP gnomAD v4
17	g.43071109A>C	CA10591908	BRCA1	c.4802T>G (p.Val1601Gly) c.4805T>G (p.Val1602Gly) c.4679T>G (p.Val1560Gly) c.4799T>G (p.Val1600Gly) c.4727T>G (p.Val1576Gly) c.1493T>G (p.Val498Gly) c.1355T>G (p.Val452Gly) c.3917T>G (p.Val1306Gly) c.4682T>G (p.Val1561Gly) c.4871T>G (p.Val1624Gly) c.4664T>G (p.Val1555Gly) c.1367T>G (p.Val456Gly) c.1412T>G (p.Val471Gly) c.4868T>G (p.Val1623Gly) c.1192T>G c.1379T>G (p.Val460Gly) c.4588T>G (n.4588T>G) c.1118T>G (p.Val373Gly) c.5-7158T>G (n.5-7158T>G) c.278T>G (p.Val93Gly) c.-98-20919T>G (n.-98-20919T>G) n.4941T>G n.4982T>G	dbSNP
17	g.43071109A>G	CA10591909	BRCA1	c.4802T>C (p.Val1601Ala) c.4805T>C (p.Val1602Ala) c.4679T>C (p.Val1560Ala) c.4799T>C (p.Val1600Ala) c.4727T>C (p.Val1576Ala) c.1493T>C (p.Val498Ala) c.1355T>C (p.Val452Ala) c.3917T>C (p.Val1306Ala) c.4682T>C (p.Val1561Ala) c.4871T>C (p.Val1624Ala) c.4664T>C (p.Val1555Ala) c.1367T>C (p.Val456Ala) c.1412T>C (p.Val471Ala) c.4868T>C (p.Val1623Ala) c.1192T>C c.1379T>C (p.Val460Ala) c.4588T>C (n.4588T>C) c.1118T>C (p.Val373Ala) c.5-7158T>C (n.5-7158T>C) c.278T>C (p.Val93Ala) c.-98-20919T>C (n.-98-20919T>C) n.4941T>C n.4982T>C	dbSNP
17	g.43071109A>T	CA10591910	BRCA1	c.4802T>A (p.Val1601Asp) c.4805T>A (p.Val1602Asp) c.4679T>A (p.Val1560Asp) c.4799T>A (p.Val1600Asp) c.4727T>A (p.Val1576Asp) c.1493T>A (p.Val498Asp) c.1355T>A (p.Val452Asp) c.3917T>A (p.Val1306Asp) c.4682T>A (p.Val1561Asp) c.4871T>A (p.Val1624Asp) c.4664T>A (p.Val1555Asp) c.1367T>A (p.Val456Asp) c.1412T>A (p.Val471Asp) c.4868T>A (p.Val1623Asp) c.1192T>A c.1379T>A (p.Val460Asp) c.4588T>A (n.4588T>A) c.1118T>A (p.Val373Asp) c.5-7158T>A (n.5-7158T>A) c.278T>A (p.Val93Asp) c.-98-20919T>A (n.-98-20919T>A) n.4941T>A n.4982T>A	dbSNP
17	g.43071110C>A	CA10591911	BRCA1	c.4801G>T (p.Val1601Phe) c.4804G>T (p.Val1602Phe) c.4678G>T (p.Val1560Phe) c.4798G>T (p.Val1600Phe) c.4726G>T (p.Val1576Phe) c.1492G>T (p.Val498Phe) c.1354G>T (p.Val452Phe) c.3916G>T (p.Val1306Phe) c.4681G>T (p.Val1561Phe) c.4870G>T (p.Val1624Phe) c.4663G>T (p.Val1555Phe) c.1366G>T (p.Val456Phe) c.1411G>T (p.Val471Phe) c.4867G>T (p.Val1623Phe) c.1191G>T c.1378G>T (p.Val460Phe) c.4587G>T (n.4587G>T) c.1117G>T (p.Val373Phe) c.5-7159G>T (n.5-7159G>T) c.277G>T (p.Val93Phe) c.-98-20920G>T (n.-98-20920G>T) n.4940G>T n.4981G>T	ClinVar dbSNP
17	g.43071110C=	CA2260772924	BRCA1	c.4801G= (p.Val1601=) c.4804G= (p.Val1602=) c.4678G= (p.Val1560=) c.4798G= (p.Val1600=) c.4726G= (p.Val1576=) c.1492G= (p.Val498=) c.1354G= (p.Val452=) c.3916G= (p.Val1306=) c.4681G= (p.Val1561=) c.4870G= (p.Val1624=) c.4663G= (p.Val1555=) c.1366G= (p.Val456=) c.1411G= (p.Val471=) c.4867G= (p.Val1623=) c.1191G= c.1378G= (p.Val460=) c.4587G= (n.4587G=) c.1117G= (p.Val373=) c.5-7159G= (n.5-7159G=) c.277G= (p.Val93=) c.-98-20920G= (n.-98-20920G=) n.4940G= n.4981G=
17	g.43071110C>G	CA10591912	BRCA1	c.4801G>C (p.Val1601Leu) c.4804G>C (p.Val1602Leu) c.4678G>C (p.Val1560Leu) c.4798G>C (p.Val1600Leu) c.4726G>C (p.Val1576Leu) c.1492G>C (p.Val498Leu) c.1354G>C (p.Val452Leu) c.3916G>C (p.Val1306Leu) c.4681G>C (p.Val1561Leu) c.4870G>C (p.Val1624Leu) c.4663G>C (p.Val1555Leu) c.1366G>C (p.Val456Leu) c.1411G>C (p.Val471Leu) c.4867G>C (p.Val1623Leu) c.1191G>C c.1378G>C (p.Val460Leu) c.4587G>C (n.4587G>C) c.1117G>C (p.Val373Leu) c.5-7159G>C (n.5-7159G>C) c.277G>C (p.Val93Leu) c.-98-20920G>C (n.-98-20920G>C) n.4940G>C n.4981G>C	dbSNP
17	g.43071110C>T	CA10591913	BRCA1	c.4801G>A (p.Val1601Ile) c.4804G>A (p.Val1602Ile) c.4678G>A (p.Val1560Ile) c.4798G>A (p.Val1600Ile) c.4726G>A (p.Val1576Ile) c.1492G>A (p.Val498Ile) c.1354G>A (p.Val452Ile) c.3916G>A (p.Val1306Ile) c.4681G>A (p.Val1561Ile) c.4870G>A (p.Val1624Ile) c.4663G>A (p.Val1555Ile) c.1366G>A (p.Val456Ile) c.1411G>A (p.Val471Ile) c.4867G>A (p.Val1623Ile) c.1191G>A c.1378G>A (p.Val460Ile) c.4587G>A (n.4587G>A) c.1117G>A (p.Val373Ile) c.5-7159G>A (n.5-7159G>A) c.277G>A (p.Val93Ile) c.-98-20920G>A (n.-98-20920G>A) n.4940G>A n.4981G>A	dbSNP
17	g.43071110_43071111delinsCT	CA2260772923	BRCA1	c.4800_4801delinsAG (p.Lys1600=) c.4803_4804delinsAG (p.Lys1601=) c.4677_4678delinsAG (p.Lys1559=) c.4797_4798delinsAG (p.Lys1599=) c.4725_4726delinsAG (p.Lys1575=) c.1491_1492delinsAG (p.Lys497=) c.1353_1354delinsAG (p.Lys451=) c.3915_3916delinsAG (p.Lys1305=) c.4680_4681delinsAG (p.Lys1560=) c.4869_4870delinsAG (p.Lys1623=) c.4662_4663delinsAG (p.Lys1554=) c.1365_1366delinsAG (p.Lys455=) c.1410_1411delinsAG (p.Lys470=) c.4866_4867delinsAG (p.Lys1622=) c.1190_1191delinsAG c.1377_1378delinsAG (p.Lys459=) c.4586_4587delinsAG (n.4586_4587delinsAG) c.1116_1117delinsAG (p.Lys372=) c.5-7160_5-7159delinsAG (n.5-7160_5-7159delinsAG) c.276_277delinsAG (p.Lys92=) c.-98-20921_-98-20920delinsAG (n.-98-20921_-98-20920delinsAG) n.4939_4940delinsAG n.4980_4981delinsAG
17	g.43071111T>A	CA10591914	BRCA1	c.4800A>T (p.Lys1600Asn) c.4803A>T (p.Lys1601Asn) c.4677A>T (p.Lys1559Asn) c.4797A>T (p.Lys1599Asn) c.4725A>T (p.Lys1575Asn) c.1491A>T (p.Lys497Asn) c.1353A>T (p.Lys451Asn) c.3915A>T (p.Lys1305Asn) c.4680A>T (p.Lys1560Asn) c.4869A>T (p.Lys1623Asn) c.4662A>T (p.Lys1554Asn) c.1365A>T (p.Lys455Asn) c.1410A>T (p.Lys470Asn) c.4866A>T (p.Lys1622Asn) c.1190A>T c.1377A>T (p.Lys459Asn) c.4586A>T (n.4586A>T) c.1116A>T (p.Lys372Asn) c.5-7160A>T (n.5-7160A>T) c.276A>T (p.Lys92Asn) c.-98-20921A>T (n.-98-20921A>T) n.4939A>T n.4980A>T	dbSNP
17	g.43071111T>C	CA10575939	BRCA1	c.4800A>G (p.Lys1600=) c.4803A>G (p.Lys1601=) c.4677A>G (p.Lys1559=) c.4797A>G (p.Lys1599=) c.4725A>G (p.Lys1575=) c.1491A>G (p.Lys497=) c.1353A>G (p.Lys451=) c.3915A>G (p.Lys1305=) c.4680A>G (p.Lys1560=) c.4869A>G (p.Lys1623=) c.4662A>G (p.Lys1554=) c.1365A>G (p.Lys455=) c.1410A>G (p.Lys470=) c.4866A>G (p.Lys1622=) c.1190A>G c.1377A>G (p.Lys459=) c.4586A>G (n.4586A>G) c.1116A>G (p.Lys372=) c.5-7160A>G (n.5-7160A>G) c.276A>G (p.Lys92=) c.-98-20921A>G (n.-98-20921A>G) n.4939A>G n.4980A>G	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.43071111T>G	CA10591915	BRCA1	c.4800A>C (p.Lys1600Asn) c.4803A>C (p.Lys1601Asn) c.4677A>C (p.Lys1559Asn) c.4797A>C (p.Lys1599Asn) c.4725A>C (p.Lys1575Asn) c.1491A>C (p.Lys497Asn) c.1353A>C (p.Lys451Asn) c.3915A>C (p.Lys1305Asn) c.4680A>C (p.Lys1560Asn) c.4869A>C (p.Lys1623Asn) c.4662A>C (p.Lys1554Asn) c.1365A>C (p.Lys455Asn) c.1410A>C (p.Lys470Asn) c.4866A>C (p.Lys1622Asn) c.1190A>C c.1377A>C (p.Lys459Asn) c.4586A>C (n.4586A>C) c.1116A>C (p.Lys372Asn) c.5-7160A>C (n.5-7160A>C) c.276A>C (p.Lys92Asn) c.-98-20921A>C (n.-98-20921A>C) n.4939A>C n.4980A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.43071111T=	CA2260772925	BRCA1	c.4800A= (p.Lys1600=) c.4803A= (p.Lys1601=) c.4677A= (p.Lys1559=) c.4797A= (p.Lys1599=) c.4725A= (p.Lys1575=) c.1491A= (p.Lys497=) c.1353A= (p.Lys451=) c.3915A= (p.Lys1305=) c.4680A= (p.Lys1560=) c.4869A= (p.Lys1623=) c.4662A= (p.Lys1554=) c.1365A= (p.Lys455=) c.1410A= (p.Lys470=) c.4866A= (p.Lys1622=) c.1190A= c.1377A= (p.Lys459=) c.4586A= (n.4586A=) c.1116A= (p.Lys372=) c.5-7160A= (n.5-7160A=) c.276A= (p.Lys92=) c.-98-20921A= (n.-98-20921A=) n.4939A= n.4980A=
17	g.43071113del	CA658656622	BRCA1	c.4800del (p.Val1601PhefsTer4) c.4803del (p.Val1602PhefsTer4) c.4677del (p.Val1560PhefsTer4) c.4797del (p.Val1600PhefsTer4) c.4725del (p.Val1576PhefsTer4) c.1491del (p.Val498PhefsTer4) c.1353del (p.Val452PhefsTer4) c.3915del (p.Val1306PhefsTer4) c.4680del (p.Val1561PhefsTer4) c.4869del (p.Val1624PhefsTer4) c.4662del (p.Val1555PhefsTer4) c.1365del (p.Val456PhefsTer4) c.1410del (p.Val471PhefsTer4) c.4866del (p.Val1623PhefsTer4) c.1190del c.1377del (p.Val460PhefsTer4) c.4586del (n.4586del) c.1116del (p.Val373PhefsTer4) c.5-7160del (n.5-7160del) c.276del (p.Val93PhefsTer4) c.-98-20921del (n.-98-20921del) n.4939del n.4980del	ClinVar dbSNP
17	g.43071112T>A	CA10591916	BRCA1	c.4799A>T (p.Lys1600Ile) c.4802A>T (p.Lys1601Ile) c.4676A>T (p.Lys1559Ile) c.4796A>T (p.Lys1599Ile) c.4724A>T (p.Lys1575Ile) c.1490A>T (p.Lys497Ile) c.1352A>T (p.Lys451Ile) c.3914A>T (p.Lys1305Ile) c.4679A>T (p.Lys1560Ile) c.4868A>T (p.Lys1623Ile) c.4661A>T (p.Lys1554Ile) c.1364A>T (p.Lys455Ile) c.1409A>T (p.Lys470Ile) c.4865A>T (p.Lys1622Ile) c.1189A>T c.1376A>T (p.Lys459Ile) c.4585A>T (n.4585A>T) c.1115A>T (p.Lys372Ile) c.5-7161A>T (n.5-7161A>T) c.275A>T (p.Lys92Ile) c.-98-20922A>T (n.-98-20922A>T) n.4938A>T n.4979A>T	dbSNP
17	g.43071112T>C	CA10591917	BRCA1	c.4799A>G (p.Lys1600Arg) c.4802A>G (p.Lys1601Arg) c.4676A>G (p.Lys1559Arg) c.4796A>G (p.Lys1599Arg) c.4724A>G (p.Lys1575Arg) c.1490A>G (p.Lys497Arg) c.1352A>G (p.Lys451Arg) c.3914A>G (p.Lys1305Arg) c.4679A>G (p.Lys1560Arg) c.4868A>G (p.Lys1623Arg) c.4661A>G (p.Lys1554Arg) c.1364A>G (p.Lys455Arg) c.1409A>G (p.Lys470Arg) c.4865A>G (p.Lys1622Arg) c.1189A>G c.1376A>G (p.Lys459Arg) c.4585A>G (n.4585A>G) c.1115A>G (p.Lys372Arg) c.5-7161A>G (n.5-7161A>G) c.275A>G (p.Lys92Arg) c.-98-20922A>G (n.-98-20922A>G) n.4938A>G n.4979A>G	ClinVar
17	g.43071112T>G	CA10591918	BRCA1	c.4799A>C (p.Lys1600Thr) c.4802A>C (p.Lys1601Thr) c.4676A>C (p.Lys1559Thr) c.4796A>C (p.Lys1599Thr) c.4724A>C (p.Lys1575Thr) c.1490A>C (p.Lys497Thr) c.1352A>C (p.Lys451Thr) c.3914A>C (p.Lys1305Thr) c.4679A>C (p.Lys1560Thr) c.4868A>C (p.Lys1623Thr) c.4661A>C (p.Lys1554Thr) c.1364A>C (p.Lys455Thr) c.1409A>C (p.Lys470Thr) c.4865A>C (p.Lys1622Thr) c.1189A>C c.1376A>C (p.Lys459Thr) c.4585A>C (n.4585A>C) c.1115A>C (p.Lys372Thr) c.5-7161A>C (n.5-7161A>C) c.275A>C (p.Lys92Thr) c.-98-20922A>C (n.-98-20922A>C) n.4938A>C n.4979A>C
17	g.43071113T>A	CA003028	BRCA1	c.4798A>T (p.Lys1600Ter) c.4801A>T (p.Lys1601Ter) c.4675A>T (p.Lys1559Ter) c.4795A>T (p.Lys1599Ter) c.4723A>T (p.Lys1575Ter) c.1489A>T (p.Lys497Ter) c.1351A>T (p.Lys451Ter) c.3913A>T (p.Lys1305Ter) c.4678A>T (p.Lys1560Ter) c.4867A>T (p.Lys1623Ter) c.4660A>T (p.Lys1554Ter) c.1363A>T (p.Lys455Ter) c.1408A>T (p.Lys470Ter) c.4864A>T (p.Lys1622Ter) c.1188A>T c.1375A>T (p.Lys459Ter) c.4584A>T (n.4584A>T) c.1114A>T (p.Lys372Ter) c.5-7162A>T (n.5-7162A>T) c.274A>T (p.Lys92Ter) c.-98-20923A>T (n.-98-20923A>T) n.4937A>T n.4978A>T	ClinVar dbSNP
17	g.43071113T>C	CA10591919	BRCA1	c.4798A>G (p.Lys1600Glu) c.4801A>G (p.Lys1601Glu) c.4675A>G (p.Lys1559Glu) c.4795A>G (p.Lys1599Glu) c.4723A>G (p.Lys1575Glu) c.1489A>G (p.Lys497Glu) c.1351A>G (p.Lys451Glu) c.3913A>G (p.Lys1305Glu) c.4678A>G (p.Lys1560Glu) c.4867A>G (p.Lys1623Glu) c.4660A>G (p.Lys1554Glu) c.1363A>G (p.Lys455Glu) c.1408A>G (p.Lys470Glu) c.4864A>G (p.Lys1622Glu) c.1188A>G c.1375A>G (p.Lys459Glu) c.4584A>G (n.4584A>G) c.1114A>G (p.Lys372Glu) c.5-7162A>G (n.5-7162A>G) c.274A>G (p.Lys92Glu) c.-98-20923A>G (n.-98-20923A>G) n.4937A>G n.4978A>G
17	g.43071113T>G	CA053263	BRCA1	c.4798A>C (p.Lys1600Gln) c.4801A>C (p.Lys1601Gln) c.4675A>C (p.Lys1559Gln) c.4795A>C (p.Lys1599Gln) c.4723A>C (p.Lys1575Gln) c.1489A>C (p.Lys497Gln) c.1351A>C (p.Lys451Gln) c.3913A>C (p.Lys1305Gln) c.4678A>C (p.Lys1560Gln) c.4867A>C (p.Lys1623Gln) c.4660A>C (p.Lys1554Gln) c.1363A>C (p.Lys455Gln) c.1408A>C (p.Lys470Gln) c.4864A>C (p.Lys1622Gln) c.1188A>C c.1375A>C (p.Lys459Gln) c.4584A>C (n.4584A>C) c.1114A>C (p.Lys372Gln) c.5-7162A>C (n.5-7162A>C) c.274A>C (p.Lys92Gln) c.-98-20923A>C (n.-98-20923A>C) n.4937A>C n.4978A>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071113T=	CA2260772926	BRCA1	c.4798A= (p.Lys1600=) c.4801A= (p.Lys1601=) c.4675A= (p.Lys1559=) c.4795A= (p.Lys1599=) c.4723A= (p.Lys1575=) c.1489A= (p.Lys497=) c.1351A= (p.Lys451=) c.3913A= (p.Lys1305=) c.4678A= (p.Lys1560=) c.4867A= (p.Lys1623=) c.4660A= (p.Lys1554=) c.1363A= (p.Lys455=) c.1408A= (p.Lys470=) c.4864A= (p.Lys1622=) c.1188A= c.1375A= (p.Lys459=) c.4584A= (n.4584A=) c.1114A= (p.Lys372=) c.5-7162A= (n.5-7162A=) c.274A= (p.Lys92=) c.-98-20923A= (n.-98-20923A=) n.4937A= n.4978A=
17	g.43071113_43071114delinsTC	CA2260772927	BRCA1	c.4797_4798delinsGA (p.Leu1599=) c.4800_4801delinsGA (p.Leu1600=) c.4674_4675delinsGA (p.Leu1558=) c.4794_4795delinsGA (p.Leu1598=) c.4722_4723delinsGA (p.Leu1574=) c.1488_1489delinsGA (p.Leu496=) c.1350_1351delinsGA (p.Leu450=) c.3912_3913delinsGA (p.Leu1304=) c.4677_4678delinsGA (p.Leu1559=) c.4866_4867delinsGA (p.Leu1622=) c.4659_4660delinsGA (p.Leu1553=) c.1362_1363delinsGA (p.Leu454=) c.1407_1408delinsGA (p.Leu469=) c.4863_4864delinsGA (p.Leu1621=) c.1187_1188delinsGA c.1374_1375delinsGA (p.Leu458=) c.4583_4584delinsGA (n.4583_4584delinsGA) c.1113_1114delinsGA (p.Leu371=) c.5-7163_5-7162delinsGA (n.5-7163_5-7162delinsGA) c.273_274delinsGA (p.Leu91=) c.-98-20924_-98-20923delinsGA (n.-98-20924_-98-20923delinsGA) n.4936_4937delinsGA n.4977_4978delinsGA
17	g.43071114del	CA919844205	BRCA1	c.4797del (p.Val1601PhefsTer4) c.4800del (p.Val1602PhefsTer4) c.4674del (p.Val1560PhefsTer4) c.4794del (p.Val1600PhefsTer4) c.4722del (p.Val1576PhefsTer4) c.1488del (p.Val498PhefsTer4) c.1350del (p.Val452PhefsTer4) c.3912del (p.Val1306PhefsTer4) c.4677del (p.Val1561PhefsTer4) c.4866del (p.Val1624PhefsTer4) c.4659del (p.Val1555PhefsTer4) c.1362del (p.Val456PhefsTer4) c.1407del (p.Val471PhefsTer4) c.4863del (p.Val1623PhefsTer4) c.1187del c.1374del (p.Val460PhefsTer4) c.4583del (n.4583del) c.1113del (p.Val373PhefsTer4) c.5-7163del (n.5-7163del) c.273del (p.Val93PhefsTer4) c.-98-20924del (n.-98-20924del) n.4936del n.4977del	dbSNP
17	g.43071114C>A	CA10591920	BRCA1	c.4797G>T (p.Leu1599Phe) c.4800G>T (p.Leu1600Phe) c.4674G>T (p.Leu1558Phe) c.4794G>T (p.Leu1598Phe) c.4722G>T (p.Leu1574Phe) c.1488G>T (p.Leu496Phe) c.1350G>T (p.Leu450Phe) c.3912G>T (p.Leu1304Phe) c.4677G>T (p.Leu1559Phe) c.4866G>T (p.Leu1622Phe) c.4659G>T (p.Leu1553Phe) c.1362G>T (p.Leu454Phe) c.1407G>T (p.Leu469Phe) c.4863G>T (p.Leu1621Phe) c.1187G>T c.1374G>T (p.Leu458Phe) c.4583G>T (n.4583G>T) c.1113G>T (p.Leu371Phe) c.5-7163G>T (n.5-7163G>T) c.273G>T (p.Leu91Phe) c.-98-20924G>T (n.-98-20924G>T) n.4936G>T n.4977G>T	dbSNP
17	g.43071114C=	CA2260772928	BRCA1	c.4797G= (p.Leu1599=) c.4800G= (p.Leu1600=) c.4674G= (p.Leu1558=) c.4794G= (p.Leu1598=) c.4722G= (p.Leu1574=) c.1488G= (p.Leu496=) c.1350G= (p.Leu450=) c.3912G= (p.Leu1304=) c.4677G= (p.Leu1559=) c.4866G= (p.Leu1622=) c.4659G= (p.Leu1553=) c.1362G= (p.Leu454=) c.1407G= (p.Leu469=) c.4863G= (p.Leu1621=) c.1187G= c.1374G= (p.Leu458=) c.4583G= (n.4583G=) c.1113G= (p.Leu371=) c.5-7163G= (n.5-7163G=) c.273G= (p.Leu91=) c.-98-20924G= (n.-98-20924G=) n.4936G= n.4977G=
17	g.43071114C>G	CA10591921	BRCA1	c.4797G>C (p.Leu1599Phe) c.4800G>C (p.Leu1600Phe) c.4674G>C (p.Leu1558Phe) c.4794G>C (p.Leu1598Phe) c.4722G>C (p.Leu1574Phe) c.1488G>C (p.Leu496Phe) c.1350G>C (p.Leu450Phe) c.3912G>C (p.Leu1304Phe) c.4677G>C (p.Leu1559Phe) c.4866G>C (p.Leu1622Phe) c.4659G>C (p.Leu1553Phe) c.1362G>C (p.Leu454Phe) c.1407G>C (p.Leu469Phe) c.4863G>C (p.Leu1621Phe) c.1187G>C c.1374G>C (p.Leu458Phe) c.4583G>C (n.4583G>C) c.1113G>C (p.Leu371Phe) c.5-7163G>C (n.5-7163G>C) c.273G>C (p.Leu91Phe) c.-98-20924G>C (n.-98-20924G>C) n.4936G>C n.4977G>C	dbSNP
17	g.43071114C>T	CA500231828	BRCA1	c.4797G>A (p.Leu1599=) c.4800G>A (p.Leu1600=) c.4674G>A (p.Leu1558=) c.4794G>A (p.Leu1598=) c.4722G>A (p.Leu1574=) c.1488G>A (p.Leu496=) c.1350G>A (p.Leu450=) c.3912G>A (p.Leu1304=) c.4677G>A (p.Leu1559=) c.4866G>A (p.Leu1622=) c.4659G>A (p.Leu1553=) c.1362G>A (p.Leu454=) c.1407G>A (p.Leu469=) c.4863G>A (p.Leu1621=) c.1187G>A c.1374G>A (p.Leu458=) c.4583G>A (n.4583G>A) c.1113G>A (p.Leu371=) c.5-7163G>A (n.5-7163G>A) c.273G>A (p.Leu91=) c.-98-20924G>A (n.-98-20924G>A) n.4936G>A n.4977G>A	ClinVar dbSNP COSMIC COSMIC
17	g.43071115A>C	CA10591922	BRCA1	c.4796T>G (p.Leu1599Trp) c.4799T>G (p.Leu1600Trp) c.4673T>G (p.Leu1558Trp) c.4793T>G (p.Leu1598Trp) c.4721T>G (p.Leu1574Trp) c.1487T>G (p.Leu496Trp) c.1349T>G (p.Leu450Trp) c.3911T>G (p.Leu1304Trp) c.4676T>G (p.Leu1559Trp) c.4865T>G (p.Leu1622Trp) c.4658T>G (p.Leu1553Trp) c.1361T>G (p.Leu454Trp) c.1406T>G (p.Leu469Trp) c.4862T>G (p.Leu1621Trp) c.1186T>G c.1373T>G (p.Leu458Trp) c.4582T>G (n.4582T>G) c.1112T>G (p.Leu371Trp) c.5-7164T>G (n.5-7164T>G) c.272T>G (p.Leu91Trp) c.-98-20925T>G (n.-98-20925T>G) n.4935T>G n.4976T>G	dbSNP
17	g.43071115A>G	CA10591923	BRCA1	c.4796T>C (p.Leu1599Ser) c.4799T>C (p.Leu1600Ser) c.4673T>C (p.Leu1558Ser) c.4793T>C (p.Leu1598Ser) c.4721T>C (p.Leu1574Ser) c.1487T>C (p.Leu496Ser) c.1349T>C (p.Leu450Ser) c.3911T>C (p.Leu1304Ser) c.4676T>C (p.Leu1559Ser) c.4865T>C (p.Leu1622Ser) c.4658T>C (p.Leu1553Ser) c.1361T>C (p.Leu454Ser) c.1406T>C (p.Leu469Ser) c.4862T>C (p.Leu1621Ser) c.1186T>C c.1373T>C (p.Leu458Ser) c.4582T>C (n.4582T>C) c.1112T>C (p.Leu371Ser) c.5-7164T>C (n.5-7164T>C) c.272T>C (p.Leu91Ser) c.-98-20925T>C (n.-98-20925T>C) n.4935T>C n.4976T>C	dbSNP
17	g.43071115A>T	CA10591924	BRCA1	c.4796T>A (p.Leu1599Ter) c.4799T>A (p.Leu1600Ter) c.4673T>A (p.Leu1558Ter) c.4793T>A (p.Leu1598Ter) c.4721T>A (p.Leu1574Ter) c.1487T>A (p.Leu496Ter) c.1349T>A (p.Leu450Ter) c.3911T>A (p.Leu1304Ter) c.4676T>A (p.Leu1559Ter) c.4865T>A (p.Leu1622Ter) c.4658T>A (p.Leu1553Ter) c.1361T>A (p.Leu454Ter) c.1406T>A (p.Leu469Ter) c.4862T>A (p.Leu1621Ter) c.1186T>A c.1373T>A (p.Leu458Ter) c.4582T>A (n.4582T>A) c.1112T>A (p.Leu371Ter) c.5-7164T>A (n.5-7164T>A) c.272T>A (p.Leu91Ter) c.-98-20925T>A (n.-98-20925T>A) n.4935T>A n.4976T>A	dbSNP
17	g.43071116dup	CA003027	BRCA1	c.4796dup (p.Leu1599PhefsTer22) c.4799dup (p.Leu1600PhefsTer22) c.4673dup (p.Leu1558PhefsTer22) c.4793dup (p.Leu1598PhefsTer22) c.4721dup (p.Leu1574PhefsTer22) c.1487dup (p.Leu496PhefsTer22) c.1349dup (p.Leu450PhefsTer22) c.3911dup (p.Leu1304PhefsTer22) c.4676dup (p.Leu1559PhefsTer22) c.4865dup (p.Leu1622PhefsTer22) c.4658dup (p.Leu1553PhefsTer22) c.1361dup (p.Leu454PhefsTer22) c.1406dup (p.Leu469PhefsTer22) c.4862dup (p.Leu1621PhefsTer22) c.1186dup c.1373dup (p.Leu458PhefsTer22) c.4582dup (n.4582dup) c.1112dup (p.Leu371PhefsTer22) c.5-7164dup (n.5-7164dup) c.272dup (p.Leu91PhefsTer22) c.-98-20925dup (n.-98-20925dup) n.4935dup n.4976dup	ClinVar dbSNP
17	g.43071116del	CA2499224396	BRCA1	c.4796del (p.Leu1599Ter) c.4799del (p.Leu1600Ter) c.4673del (p.Leu1558Ter) c.4793del (p.Leu1598Ter) c.4721del (p.Leu1574Ter) c.1487del (p.Leu496Ter) c.1349del (p.Leu450Ter) c.3911del (p.Leu1304Ter) c.4676del (p.Leu1559Ter) c.4865del (p.Leu1622Ter) c.4658del (p.Leu1553Ter) c.1361del (p.Leu454Ter) c.1406del (p.Leu469Ter) c.4862del (p.Leu1621Ter) c.1186del c.1373del (p.Leu458Ter) c.4582del (n.4582del) c.1112del (p.Leu371Ter) c.5-7164del (n.5-7164del) c.272del (p.Leu91Ter) c.-98-20925del (n.-98-20925del) n.4935del n.4976del	ClinVar dbSNP
17	g.43071116A=	CA2260772929	BRCA1	c.4795T= (p.Leu1599=) c.4798T= (p.Leu1600=) c.4672T= (p.Leu1558=) c.4792T= (p.Leu1598=) c.4720T= (p.Leu1574=) c.1486T= (p.Leu496=) c.1348T= (p.Leu450=) c.3910T= (p.Leu1304=) c.4675T= (p.Leu1559=) c.4864T= (p.Leu1622=) c.4657T= (p.Leu1553=) c.1360T= (p.Leu454=) c.1405T= (p.Leu469=) c.4861T= (p.Leu1621=) c.1185T= c.1372T= (p.Leu458=) c.4581T= (n.4581T=) c.1111T= (p.Leu371=) c.5-7165T= (n.5-7165T=) c.271T= (p.Leu91=) c.-98-20926T= (n.-98-20926T=) n.4934T= n.4975T=
17	g.43071116A>C	CA10591925	BRCA1	c.4795T>G (p.Leu1599Val) c.4798T>G (p.Leu1600Val) c.4672T>G (p.Leu1558Val) c.4792T>G (p.Leu1598Val) c.4720T>G (p.Leu1574Val) c.1486T>G (p.Leu496Val) c.1348T>G (p.Leu450Val) c.3910T>G (p.Leu1304Val) c.4675T>G (p.Leu1559Val) c.4864T>G (p.Leu1622Val) c.4657T>G (p.Leu1553Val) c.1360T>G (p.Leu454Val) c.1405T>G (p.Leu469Val) c.4861T>G (p.Leu1621Val) c.1185T>G c.1372T>G (p.Leu458Val) c.4581T>G (n.4581T>G) c.1111T>G (p.Leu371Val) c.5-7165T>G (n.5-7165T>G) c.271T>G (p.Leu91Val) c.-98-20926T>G (n.-98-20926T>G) n.4934T>G n.4975T>G
17	g.43071116A>G	CA053253	BRCA1	c.4795T>C (p.Leu1599=) c.4798T>C (p.Leu1600=) c.4672T>C (p.Leu1558=) c.4792T>C (p.Leu1598=) c.4720T>C (p.Leu1574=) c.1486T>C (p.Leu496=) c.1348T>C (p.Leu450=) c.3910T>C (p.Leu1304=) c.4675T>C (p.Leu1559=) c.4864T>C (p.Leu1622=) c.4657T>C (p.Leu1553=) c.1360T>C (p.Leu454=) c.1405T>C (p.Leu469=) c.4861T>C (p.Leu1621=) c.1185T>C c.1372T>C (p.Leu458=) c.4581T>C (n.4581T>C) c.1111T>C (p.Leu371=) c.5-7165T>C (n.5-7165T>C) c.271T>C (p.Leu91=) c.-98-20926T>C (n.-98-20926T>C) n.4934T>C n.4975T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071116A>T	CA10591926	BRCA1	c.4795T>A (p.Leu1599Met) c.4798T>A (p.Leu1600Met) c.4672T>A (p.Leu1558Met) c.4792T>A (p.Leu1598Met) c.4720T>A (p.Leu1574Met) c.1486T>A (p.Leu496Met) c.1348T>A (p.Leu450Met) c.3910T>A (p.Leu1304Met) c.4675T>A (p.Leu1559Met) c.4864T>A (p.Leu1622Met) c.4657T>A (p.Leu1553Met) c.1360T>A (p.Leu454Met) c.1405T>A (p.Leu469Met) c.4861T>A (p.Leu1621Met) c.1185T>A c.1372T>A (p.Leu458Met) c.4581T>A (n.4581T>A) c.1111T>A (p.Leu371Met) c.5-7165T>A (n.5-7165T>A) c.271T>A (p.Leu91Met) c.-98-20926T>A (n.-98-20926T>A) n.4934T>A n.4975T>A	dbSNP
17	g.43071117T>A	CA500231829	BRCA1	c.4794A>T (p.Ala1598=) c.4797A>T (p.Ala1599=) c.4671A>T (p.Ala1557=) c.4791A>T (p.Ala1597=) c.4719A>T (p.Ala1573=) c.1485A>T (p.Ala495=) c.1347A>T (p.Ala449=) c.3909A>T (p.Ala1303=) c.4674A>T (p.Ala1558=) c.4863A>T (p.Ala1621=) c.4656A>T (p.Ala1552=) c.1359A>T (p.Ala453=) c.1404A>T (p.Ala468=) c.4860A>T (p.Ala1620=) c.1184A>T c.1371A>T (p.Ala457=) c.4580A>T (n.4580A>T) c.1110A>T (p.Ala370=) c.5-7166A>T (n.5-7166A>T) c.270A>T (p.Ala90=) c.-98-20927A>T (n.-98-20927A>T) n.4933A>T n.4974A>T	dbSNP
17	g.43071117T>C	CA290831752	BRCA1	c.4794A>G (p.Ala1598=) c.4797A>G (p.Ala1599=) c.4671A>G (p.Ala1557=) c.4791A>G (p.Ala1597=) c.4719A>G (p.Ala1573=) c.1485A>G (p.Ala495=) c.1347A>G (p.Ala449=) c.3909A>G (p.Ala1303=) c.4674A>G (p.Ala1558=) c.4863A>G (p.Ala1621=) c.4656A>G (p.Ala1552=) c.1359A>G (p.Ala453=) c.1404A>G (p.Ala468=) c.4860A>G (p.Ala1620=) c.1184A>G c.1371A>G (p.Ala457=) c.4580A>G (n.4580A>G) c.1110A>G (p.Ala370=) c.5-7166A>G (n.5-7166A>G) c.270A>G (p.Ala90=) c.-98-20927A>G (n.-98-20927A>G) n.4933A>G n.4974A>G	ClinVar dbSNP gnomAD v4
17	g.43071117T>G	CA500231830	BRCA1	c.4794A>C (p.Ala1598=) c.4797A>C (p.Ala1599=) c.4671A>C (p.Ala1557=) c.4791A>C (p.Ala1597=) c.4719A>C (p.Ala1573=) c.1485A>C (p.Ala495=) c.1347A>C (p.Ala449=) c.3909A>C (p.Ala1303=) c.4674A>C (p.Ala1558=) c.4863A>C (p.Ala1621=) c.4656A>C (p.Ala1552=) c.1359A>C (p.Ala453=) c.1404A>C (p.Ala468=) c.4860A>C (p.Ala1620=) c.1184A>C c.1371A>C (p.Ala457=) c.4580A>C (n.4580A>C) c.1110A>C (p.Ala370=) c.5-7166A>C (n.5-7166A>C) c.270A>C (p.Ala90=) c.-98-20927A>C (n.-98-20927A>C) n.4933A>C n.4974A>C	ClinVar
17	g.43071117T=	CA2260772930	BRCA1	c.4794A= (p.Ala1598=) c.4797A= (p.Ala1599=) c.4671A= (p.Ala1557=) c.4791A= (p.Ala1597=) c.4719A= (p.Ala1573=) c.1485A= (p.Ala495=) c.1347A= (p.Ala449=) c.3909A= (p.Ala1303=) c.4674A= (p.Ala1558=) c.4863A= (p.Ala1621=) c.4656A= (p.Ala1552=) c.1359A= (p.Ala453=) c.1404A= (p.Ala468=) c.4860A= (p.Ala1620=) c.1184A= c.1371A= (p.Ala457=) c.4580A= (n.4580A=) c.1110A= (p.Ala370=) c.5-7166A= (n.5-7166A=) c.270A= (p.Ala90=) c.-98-20927A= (n.-98-20927A=) n.4933A= n.4974A=
17	g.43071118G>A	CA053237	BRCA1	c.4793C>T (p.Ala1598Val) c.4796C>T (p.Ala1599Val) c.4670C>T (p.Ala1557Val) c.4790C>T (p.Ala1597Val) c.4718C>T (p.Ala1573Val) c.1484C>T (p.Ala495Val) c.1346C>T (p.Ala449Val) c.3908C>T (p.Ala1303Val) c.4673C>T (p.Ala1558Val) c.4862C>T (p.Ala1621Val) c.4655C>T (p.Ala1552Val) c.1358C>T (p.Ala453Val) c.1403C>T (p.Ala468Val) c.4859C>T (p.Ala1620Val) c.1183C>T c.1370C>T (p.Ala457Val) c.4579C>T (n.4579C>T) c.1109C>T (p.Ala370Val) c.5-7167C>T (n.5-7167C>T) c.269C>T (p.Ala90Val) c.-98-20928C>T (n.-98-20928C>T) n.4932C>T n.4973C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071118G>C	CA10591927	BRCA1	c.4793C>G (p.Ala1598Gly) c.4796C>G (p.Ala1599Gly) c.4670C>G (p.Ala1557Gly) c.4790C>G (p.Ala1597Gly) c.4718C>G (p.Ala1573Gly) c.1484C>G (p.Ala495Gly) c.1346C>G (p.Ala449Gly) c.3908C>G (p.Ala1303Gly) c.4673C>G (p.Ala1558Gly) c.4862C>G (p.Ala1621Gly) c.4655C>G (p.Ala1552Gly) c.1358C>G (p.Ala453Gly) c.1403C>G (p.Ala468Gly) c.4859C>G (p.Ala1620Gly) c.1183C>G c.1370C>G (p.Ala457Gly) c.4579C>G (n.4579C>G) c.1109C>G (p.Ala370Gly) c.5-7167C>G (n.5-7167C>G) c.269C>G (p.Ala90Gly) c.-98-20928C>G (n.-98-20928C>G) n.4932C>G n.4973C>G	dbSNP
17	g.43071118G=	CA2260772931	BRCA1	c.4793C= (p.Ala1598=) c.4796C= (p.Ala1599=) c.4670C= (p.Ala1557=) c.4790C= (p.Ala1597=) c.4718C= (p.Ala1573=) c.1484C= (p.Ala495=) c.1346C= (p.Ala449=) c.3908C= (p.Ala1303=) c.4673C= (p.Ala1558=) c.4862C= (p.Ala1621=) c.4655C= (p.Ala1552=) c.1358C= (p.Ala453=) c.1403C= (p.Ala468=) c.4859C= (p.Ala1620=) c.1183C= c.1370C= (p.Ala457=) c.4579C= (n.4579C=) c.1109C= (p.Ala370=) c.5-7167C= (n.5-7167C=) c.269C= (p.Ala90=) c.-98-20928C= (n.-98-20928C=) n.4932C= n.4973C=
17	g.43071118G>T	CA10591928	BRCA1	c.4793C>A (p.Ala1598Glu) c.4796C>A (p.Ala1599Glu) c.4670C>A (p.Ala1557Glu) c.4790C>A (p.Ala1597Glu) c.4718C>A (p.Ala1573Glu) c.1484C>A (p.Ala495Glu) c.1346C>A (p.Ala449Glu) c.3908C>A (p.Ala1303Glu) c.4673C>A (p.Ala1558Glu) c.4862C>A (p.Ala1621Glu) c.4655C>A (p.Ala1552Glu) c.1358C>A (p.Ala453Glu) c.1403C>A (p.Ala468Glu) c.4859C>A (p.Ala1620Glu) c.1183C>A c.1370C>A (p.Ala457Glu) c.4579C>A (n.4579C>A) c.1109C>A (p.Ala370Glu) c.5-7167C>A (n.5-7167C>A) c.269C>A (p.Ala90Glu) c.-98-20928C>A (n.-98-20928C>A) n.4932C>A n.4973C>A
17	g.43071119C>A	CA10591929	BRCA1	c.4792G>T (p.Ala1598Ser) c.4795G>T (p.Ala1599Ser) c.4669G>T (p.Ala1557Ser) c.4789G>T (p.Ala1597Ser) c.4717G>T (p.Ala1573Ser) c.1483G>T (p.Ala495Ser) c.1345G>T (p.Ala449Ser) c.3907G>T (p.Ala1303Ser) c.4672G>T (p.Ala1558Ser) c.4861G>T (p.Ala1621Ser) c.4654G>T (p.Ala1552Ser) c.1357G>T (p.Ala453Ser) c.1402G>T (p.Ala468Ser) c.4858G>T (p.Ala1620Ser) c.1182G>T c.1369G>T (p.Ala457Ser) c.4578G>T (n.4578G>T) c.1108G>T (p.Ala370Ser) c.5-7168G>T (n.5-7168G>T) c.268G>T (p.Ala90Ser) c.-98-20929G>T (n.-98-20929G>T) n.4931G>T n.4972G>T	dbSNP
17	g.43071119C=	CA2260772932	BRCA1	c.4792G= (p.Ala1598=) c.4795G= (p.Ala1599=) c.4669G= (p.Ala1557=) c.4789G= (p.Ala1597=) c.4717G= (p.Ala1573=) c.1483G= (p.Ala495=) c.1345G= (p.Ala449=) c.3907G= (p.Ala1303=) c.4672G= (p.Ala1558=) c.4861G= (p.Ala1621=) c.4654G= (p.Ala1552=) c.1357G= (p.Ala453=) c.1402G= (p.Ala468=) c.4858G= (p.Ala1620=) c.1182G= c.1369G= (p.Ala457=) c.4578G= (n.4578G=) c.1108G= (p.Ala370=) c.5-7168G= (n.5-7168G=) c.268G= (p.Ala90=) c.-98-20929G= (n.-98-20929G=) n.4931G= n.4972G=
17	g.43071119C>G	CA10591930	BRCA1	c.4792G>C (p.Ala1598Pro) c.4795G>C (p.Ala1599Pro) c.4669G>C (p.Ala1557Pro) c.4789G>C (p.Ala1597Pro) c.4717G>C (p.Ala1573Pro) c.1483G>C (p.Ala495Pro) c.1345G>C (p.Ala449Pro) c.3907G>C (p.Ala1303Pro) c.4672G>C (p.Ala1558Pro) c.4861G>C (p.Ala1621Pro) c.4654G>C (p.Ala1552Pro) c.1357G>C (p.Ala453Pro) c.1402G>C (p.Ala468Pro) c.4858G>C (p.Ala1620Pro) c.1182G>C c.1369G>C (p.Ala457Pro) c.4578G>C (n.4578G>C) c.1108G>C (p.Ala370Pro) c.5-7168G>C (n.5-7168G>C) c.268G>C (p.Ala90Pro) c.-98-20929G>C (n.-98-20929G>C) n.4931G>C n.4972G>C	dbSNP
17	g.43071119C>T	CA10591931	BRCA1	c.4792G>A (p.Ala1598Thr) c.4795G>A (p.Ala1599Thr) c.4669G>A (p.Ala1557Thr) c.4789G>A (p.Ala1597Thr) c.4717G>A (p.Ala1573Thr) c.1483G>A (p.Ala495Thr) c.1345G>A (p.Ala449Thr) c.3907G>A (p.Ala1303Thr) c.4672G>A (p.Ala1558Thr) c.4861G>A (p.Ala1621Thr) c.4654G>A (p.Ala1552Thr) c.1357G>A (p.Ala453Thr) c.1402G>A (p.Ala468Thr) c.4858G>A (p.Ala1620Thr) c.1182G>A c.1369G>A (p.Ala457Thr) c.4578G>A (n.4578G>A) c.1108G>A (p.Ala370Thr) c.5-7168G>A (n.5-7168G>A) c.268G>A (p.Ala90Thr) c.-98-20929G>A (n.-98-20929G>A) n.4931G>A n.4972G>A	ClinVar dbSNP gnomAD v4
17	g.43071120del	CA2697559921	BRCA1	c.4791del (p.Ala1598HisfsTer2) c.4794del (p.Ala1599HisfsTer2) c.4668del (p.Ala1557HisfsTer2) c.4788del (p.Ala1597HisfsTer2) c.4716del (p.Ala1573HisfsTer2) c.1482del (p.Ala495HisfsTer2) c.1344del (p.Ala449HisfsTer2) c.3906del (p.Ala1303HisfsTer2) c.4671del (p.Ala1558HisfsTer2) c.4860del (p.Ala1621HisfsTer2) c.4653del (p.Ala1552HisfsTer2) c.1356del (p.Ala453HisfsTer2) c.1401del (p.Ala468HisfsTer2) c.4857del (p.Ala1620HisfsTer2) c.1181del c.1368del (p.Ala457HisfsTer2) c.4577del (n.4577del) c.1107del (p.Ala370HisfsTer2) c.5-7169del (n.5-7169del) c.267del (p.Ala90HisfsTer2) c.-98-20930del (n.-98-20930del) n.4930del n.4971del	ClinVar
17	g.43071120A=	CA2260772933	BRCA1	c.4791T= (p.Ser1597=) c.4794T= (p.Ser1598=) c.4668T= (p.Ser1556=) c.4788T= (p.Ser1596=) c.4716T= (p.Ser1572=) c.1482T= (p.Ser494=) c.1344T= (p.Ser448=) c.3906T= (p.Ser1302=) c.4671T= (p.Ser1557=) c.4860T= (p.Ser1620=) c.4653T= (p.Ser1551=) c.1356T= (p.Ser452=) c.1401T= (p.Ser467=) c.4857T= (p.Ser1619=) c.1181T= c.1368T= (p.Ser456=) c.4577T= (n.4577T=) c.1107T= (p.Ser369=) c.5-7169T= (n.5-7169T=) c.267T= (p.Ser89=) c.-98-20930T= (n.-98-20930T=) n.4930T= n.4971T=
17	g.43071120A>C	CA500231831	BRCA1	c.4791T>G (p.Ser1597=) c.4794T>G (p.Ser1598=) c.4668T>G (p.Ser1556=) c.4788T>G (p.Ser1596=) c.4716T>G (p.Ser1572=) c.1482T>G (p.Ser494=) c.1344T>G (p.Ser448=) c.3906T>G (p.Ser1302=) c.4671T>G (p.Ser1557=) c.4860T>G (p.Ser1620=) c.4653T>G (p.Ser1551=) c.1356T>G (p.Ser452=) c.1401T>G (p.Ser467=) c.4857T>G (p.Ser1619=) c.1181T>G c.1368T>G (p.Ser456=) c.4577T>G (n.4577T>G) c.1107T>G (p.Ser369=) c.5-7169T>G (n.5-7169T>G) c.267T>G (p.Ser89=) c.-98-20930T>G (n.-98-20930T>G) n.4930T>G n.4971T>G
17	g.43071120A>G	CA500231833	BRCA1	c.4791T>C (p.Ser1597=) c.4794T>C (p.Ser1598=) c.4668T>C (p.Ser1556=) c.4788T>C (p.Ser1596=) c.4716T>C (p.Ser1572=) c.1482T>C (p.Ser494=) c.1344T>C (p.Ser448=) c.3906T>C (p.Ser1302=) c.4671T>C (p.Ser1557=) c.4860T>C (p.Ser1620=) c.4653T>C (p.Ser1551=) c.1356T>C (p.Ser452=) c.1401T>C (p.Ser467=) c.4857T>C (p.Ser1619=) c.1181T>C c.1368T>C (p.Ser456=) c.4577T>C (n.4577T>C) c.1107T>C (p.Ser369=) c.5-7169T>C (n.5-7169T>C) c.267T>C (p.Ser89=) c.-98-20930T>C (n.-98-20930T>C) n.4930T>C n.4971T>C	dbSNP
17	g.43071120A>T	CA500231832	BRCA1	c.4791T>A (p.Ser1597=) c.4794T>A (p.Ser1598=) c.4668T>A (p.Ser1556=) c.4788T>A (p.Ser1596=) c.4716T>A (p.Ser1572=) c.1482T>A (p.Ser494=) c.1344T>A (p.Ser448=) c.3906T>A (p.Ser1302=) c.4671T>A (p.Ser1557=) c.4860T>A (p.Ser1620=) c.4653T>A (p.Ser1551=) c.1356T>A (p.Ser452=) c.1401T>A (p.Ser467=) c.4857T>A (p.Ser1619=) c.1181T>A c.1368T>A (p.Ser456=) c.4577T>A (n.4577T>A) c.1107T>A (p.Ser369=) c.5-7169T>A (n.5-7169T>A) c.267T>A (p.Ser89=) c.-98-20930T>A (n.-98-20930T>A) n.4930T>A n.4971T>A	ClinVar dbSNP gnomAD v4
17	g.43071121G>A	CA10591932	BRCA1	c.4790C>T (p.Ser1597Phe) c.4793C>T (p.Ser1598Phe) c.4667C>T (p.Ser1556Phe) c.4787C>T (p.Ser1596Phe) c.4715C>T (p.Ser1572Phe) c.1481C>T (p.Ser494Phe) c.1343C>T (p.Ser448Phe) c.3905C>T (p.Ser1302Phe) c.4670C>T (p.Ser1557Phe) c.4859C>T (p.Ser1620Phe) c.4652C>T (p.Ser1551Phe) c.1355C>T (p.Ser452Phe) c.1400C>T (p.Ser467Phe) c.4856C>T (p.Ser1619Phe) c.1180C>T c.1367C>T (p.Ser456Phe) c.4576C>T (n.4576C>T) c.1106C>T (p.Ser369Phe) c.5-7170C>T (n.5-7170C>T) c.266C>T (p.Ser89Phe) c.-98-20931C>T (n.-98-20931C>T) n.4929C>T n.4970C>T	ClinVar dbSNP gnomAD v4
17	g.43071121G>C	CA10591933	BRCA1	c.4790C>G (p.Ser1597Cys) c.4793C>G (p.Ser1598Cys) c.4667C>G (p.Ser1556Cys) c.4787C>G (p.Ser1596Cys) c.4715C>G (p.Ser1572Cys) c.1481C>G (p.Ser494Cys) c.1343C>G (p.Ser448Cys) c.3905C>G (p.Ser1302Cys) c.4670C>G (p.Ser1557Cys) c.4859C>G (p.Ser1620Cys) c.4652C>G (p.Ser1551Cys) c.1355C>G (p.Ser452Cys) c.1400C>G (p.Ser467Cys) c.4856C>G (p.Ser1619Cys) c.1180C>G c.1367C>G (p.Ser456Cys) c.4576C>G (n.4576C>G) c.1106C>G (p.Ser369Cys) c.5-7170C>G (n.5-7170C>G) c.266C>G (p.Ser89Cys) c.-98-20931C>G (n.-98-20931C>G) n.4929C>G n.4970C>G	dbSNP
17	g.43071121G>T	CA10591934	BRCA1	c.4790C>A (p.Ser1597Tyr) c.4793C>A (p.Ser1598Tyr) c.4667C>A (p.Ser1556Tyr) c.4787C>A (p.Ser1596Tyr) c.4715C>A (p.Ser1572Tyr) c.1481C>A (p.Ser494Tyr) c.1343C>A (p.Ser448Tyr) c.3905C>A (p.Ser1302Tyr) c.4670C>A (p.Ser1557Tyr) c.4859C>A (p.Ser1620Tyr) c.4652C>A (p.Ser1551Tyr) c.1355C>A (p.Ser452Tyr) c.1400C>A (p.Ser467Tyr) c.4856C>A (p.Ser1619Tyr) c.1180C>A c.1367C>A (p.Ser456Tyr) c.4576C>A (n.4576C>A) c.1106C>A (p.Ser369Tyr) c.5-7170C>A (n.5-7170C>A) c.266C>A (p.Ser89Tyr) c.-98-20931C>A (n.-98-20931C>A) n.4929C>A n.4970C>A	dbSNP
17	g.43071121_43071134del	CA2499224397	BRCA1	c.4777_4790del (p.Pro1593CysfsTer23) c.4780_4793del (p.Pro1594CysfsTer23) c.4654_4667del (p.Pro1552CysfsTer23) c.4774_4787del (p.Pro1592CysfsTer23) c.4702_4715del (p.Pro1568CysfsTer23) c.1468_1481del (p.Pro490CysfsTer23) c.1330_1343del (p.Pro444CysfsTer23) c.3892_3905del (p.Pro1298CysfsTer23) c.4657_4670del (p.Pro1553CysfsTer23) c.4846_4859del (p.Pro1616CysfsTer23) c.4639_4652del (p.Pro1547CysfsTer23) c.1342_1355del (p.Pro448CysfsTer23) c.1387_1400del (p.Pro463CysfsTer23) c.4843_4856del (p.Pro1615CysfsTer23) c.1167_1180del c.1354_1367del (p.Pro452CysfsTer23) c.4563_4576del (n.4563_4576del) c.1093_1106del (p.Pro365CysfsTer23) c.5-7183_5-7170del (n.5-7183_5-7170del) c.253_266del (p.Pro85CysfsTer23) c.-98-20944_-98-20931del (n.-98-20944_-98-20931del) n.4916_4929del n.4957_4970del
17	g.43071121_43071134dup	CA919844206	BRCA1	c.4777_4790dup (p.Ala1598HisfsTer7) c.4780_4793dup (p.Ala1599HisfsTer7) c.4654_4667dup (p.Ala1557HisfsTer7) c.4774_4787dup (p.Ala1597HisfsTer7) c.4702_4715dup (p.Ala1573HisfsTer7) c.1468_1481dup (p.Ala495HisfsTer7) c.1330_1343dup (p.Ala449HisfsTer7) c.3892_3905dup (p.Ala1303HisfsTer7) c.4657_4670dup (p.Ala1558HisfsTer7) c.4846_4859dup (p.Ala1621HisfsTer7) c.4639_4652dup (p.Ala1552HisfsTer7) c.1342_1355dup (p.Ala453HisfsTer7) c.1387_1400dup (p.Ala468HisfsTer7) c.4843_4856dup (p.Ala1620HisfsTer7) c.1167_1180dup c.1354_1367dup (p.Ala457HisfsTer7) c.4563_4576dup (n.4563_4576dup) c.1093_1106dup (p.Ala370HisfsTer7) c.5-7183_5-7170dup (n.5-7183_5-7170dup) c.253_266dup (p.Ala90HisfsTer7) c.-98-20944_-98-20931dup (n.-98-20944_-98-20931dup) n.4916_4929dup n.4957_4970dup	dbSNP
17	g.43071122A>C	CA10591935	BRCA1	c.4789T>G (p.Ser1597Ala) c.4792T>G (p.Ser1598Ala) c.4666T>G (p.Ser1556Ala) c.4786T>G (p.Ser1596Ala) c.4714T>G (p.Ser1572Ala) c.1480T>G (p.Ser494Ala) c.1342T>G (p.Ser448Ala) c.3904T>G (p.Ser1302Ala) c.4669T>G (p.Ser1557Ala) c.4858T>G (p.Ser1620Ala) c.4651T>G (p.Ser1551Ala) c.1354T>G (p.Ser452Ala) c.1399T>G (p.Ser467Ala) c.4855T>G (p.Ser1619Ala) c.1179T>G c.1366T>G (p.Ser456Ala) c.4575T>G (n.4575T>G) c.1105T>G (p.Ser369Ala) c.5-7171T>G (n.5-7171T>G) c.265T>G (p.Ser89Ala) c.-98-20932T>G (n.-98-20932T>G) n.4928T>G n.4969T>G
17	g.43071122A>G	CA10591936	BRCA1	c.4789T>C (p.Ser1597Pro) c.4792T>C (p.Ser1598Pro) c.4666T>C (p.Ser1556Pro) c.4786T>C (p.Ser1596Pro) c.4714T>C (p.Ser1572Pro) c.1480T>C (p.Ser494Pro) c.1342T>C (p.Ser448Pro) c.3904T>C (p.Ser1302Pro) c.4669T>C (p.Ser1557Pro) c.4858T>C (p.Ser1620Pro) c.4651T>C (p.Ser1551Pro) c.1354T>C (p.Ser452Pro) c.1399T>C (p.Ser467Pro) c.4855T>C (p.Ser1619Pro) c.1179T>C c.1366T>C (p.Ser456Pro) c.4575T>C (n.4575T>C) c.1105T>C (p.Ser369Pro) c.5-7171T>C (n.5-7171T>C) c.265T>C (p.Ser89Pro) c.-98-20932T>C (n.-98-20932T>C) n.4928T>C n.4969T>C	dbSNP
17	g.43071122A>T	CA10591937	BRCA1	c.4789T>A (p.Ser1597Thr) c.4792T>A (p.Ser1598Thr) c.4666T>A (p.Ser1556Thr) c.4786T>A (p.Ser1596Thr) c.4714T>A (p.Ser1572Thr) c.1480T>A (p.Ser494Thr) c.1342T>A (p.Ser448Thr) c.3904T>A (p.Ser1302Thr) c.4669T>A (p.Ser1557Thr) c.4858T>A (p.Ser1620Thr) c.4651T>A (p.Ser1551Thr) c.1354T>A (p.Ser452Thr) c.1399T>A (p.Ser467Thr) c.4855T>A (p.Ser1619Thr) c.1179T>A c.1366T>A (p.Ser456Thr) c.4575T>A (n.4575T>A) c.1105T>A (p.Ser369Thr) c.5-7171T>A (n.5-7171T>A) c.265T>A (p.Ser89Thr) c.-98-20932T>A (n.-98-20932T>A) n.4928T>A n.4969T>A	dbSNP
17	g.43071122_43071123delinsAG	CA2260772934	BRCA1	c.4788_4789delinsCT (p.Thr1596=) c.4791_4792delinsCT (p.Thr1597=) c.4665_4666delinsCT (p.Thr1555=) c.4785_4786delinsCT (p.Thr1595=) c.4713_4714delinsCT (p.Thr1571=) c.1479_1480delinsCT (p.Thr493=) c.1341_1342delinsCT (p.Thr447=) c.3903_3904delinsCT (p.Thr1301=) c.4668_4669delinsCT (p.Thr1556=) c.4857_4858delinsCT (p.Thr1619=) c.4650_4651delinsCT (p.Thr1550=) c.1353_1354delinsCT (p.Thr451=) c.1398_1399delinsCT (p.Thr466=) c.4854_4855delinsCT (p.Thr1618=) c.1178_1179delinsCT c.1365_1366delinsCT (p.Thr455=) c.4574_4575delinsCT (n.4574_4575delinsCT) c.1104_1105delinsCT (p.Thr368=) c.5-7172_5-7171delinsCT (n.5-7172_5-7171delinsCT) c.264_265delinsCT (p.Thr88=) c.-98-20933_-98-20932delinsCT (n.-98-20933_-98-20932delinsCT) n.4927_4928delinsCT n.4968_4969delinsCT
17	g.43071123G>A	CA500231834	BRCA1	c.4788C>T (p.Thr1596=) c.4791C>T (p.Thr1597=) c.4665C>T (p.Thr1555=) c.4785C>T (p.Thr1595=) c.4713C>T (p.Thr1571=) c.1479C>T (p.Thr493=) c.1341C>T (p.Thr447=) c.3903C>T (p.Thr1301=) c.4668C>T (p.Thr1556=) c.4857C>T (p.Thr1619=) c.4650C>T (p.Thr1550=) c.1353C>T (p.Thr451=) c.1398C>T (p.Thr466=) c.4854C>T (p.Thr1618=) c.1178C>T c.1365C>T (p.Thr455=) c.4574C>T (n.4574C>T) c.1104C>T (p.Thr368=) c.5-7172C>T (n.5-7172C>T) c.264C>T (p.Thr88=) c.-98-20933C>T (n.-98-20933C>T) n.4927C>T n.4968C>T	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
17	g.43071123G>C	CA500231835	BRCA1	c.4788C>G (p.Thr1596=) c.4791C>G (p.Thr1597=) c.4665C>G (p.Thr1555=) c.4785C>G (p.Thr1595=) c.4713C>G (p.Thr1571=) c.1479C>G (p.Thr493=) c.1341C>G (p.Thr447=) c.3903C>G (p.Thr1301=) c.4668C>G (p.Thr1556=) c.4857C>G (p.Thr1619=) c.4650C>G (p.Thr1550=) c.1353C>G (p.Thr451=) c.1398C>G (p.Thr466=) c.4854C>G (p.Thr1618=) c.1178C>G c.1365C>G (p.Thr455=) c.4574C>G (n.4574C>G) c.1104C>G (p.Thr368=) c.5-7172C>G (n.5-7172C>G) c.264C>G (p.Thr88=) c.-98-20933C>G (n.-98-20933C>G) n.4927C>G n.4968C>G	ClinVar COSMIC COSMIC
17	g.43071123G=	CA2260772935	BRCA1	c.4788C= (p.Thr1596=) c.4791C= (p.Thr1597=) c.4665C= (p.Thr1555=) c.4785C= (p.Thr1595=) c.4713C= (p.Thr1571=) c.1479C= (p.Thr493=) c.1341C= (p.Thr447=) c.3903C= (p.Thr1301=) c.4668C= (p.Thr1556=) c.4857C= (p.Thr1619=) c.4650C= (p.Thr1550=) c.1353C= (p.Thr451=) c.1398C= (p.Thr466=) c.4854C= (p.Thr1618=) c.1178C= c.1365C= (p.Thr455=) c.4574C= (n.4574C=) c.1104C= (p.Thr368=) c.5-7172C= (n.5-7172C=) c.264C= (p.Thr88=) c.-98-20933C= (n.-98-20933C=) n.4927C= n.4968C=
17	g.43071123G>T	CA500231836	BRCA1	c.4788C>A (p.Thr1596=) c.4791C>A (p.Thr1597=) c.4665C>A (p.Thr1555=) c.4785C>A (p.Thr1595=) c.4713C>A (p.Thr1571=) c.1479C>A (p.Thr493=) c.1341C>A (p.Thr447=) c.3903C>A (p.Thr1301=) c.4668C>A (p.Thr1556=) c.4857C>A (p.Thr1619=) c.4650C>A (p.Thr1550=) c.1353C>A (p.Thr451=) c.1398C>A (p.Thr466=) c.4854C>A (p.Thr1618=) c.1178C>A c.1365C>A (p.Thr455=) c.4574C>A (n.4574C>A) c.1104C>A (p.Thr368=) c.5-7172C>A (n.5-7172C>A) c.264C>A (p.Thr88=) c.-98-20933C>A (n.-98-20933C>A) n.4927C>A n.4968C>A	ClinVar
17	g.43071124del	CA1139665580	BRCA1	c.4788del (p.Ser1597LeufsTer3) c.4791del (p.Ser1598LeufsTer3) c.4665del (p.Ser1556LeufsTer3) c.4785del (p.Ser1596LeufsTer3) c.4713del (p.Ser1572LeufsTer3) c.1479del (p.Ser494LeufsTer3) c.1341del (p.Ser448LeufsTer3) c.3903del (p.Ser1302LeufsTer3) c.4668del (p.Ser1557LeufsTer3) c.4857del (p.Ser1620LeufsTer3) c.4650del (p.Ser1551LeufsTer3) c.1353del (p.Ser452LeufsTer3) c.1398del (p.Ser467LeufsTer3) c.4854del (p.Ser1619LeufsTer3) c.1178del c.1365del (p.Ser456LeufsTer3) c.4574del (n.4574del) c.1104del (p.Ser369LeufsTer3) c.5-7172del (n.5-7172del) c.264del (p.Ser89LeufsTer3) c.-98-20933del (n.-98-20933del) n.4927del n.4968del	ClinVar dbSNP
17	g.43071124G>A	CA053224	BRCA1	c.4787C>T (p.Thr1596Ile) c.4790C>T (p.Thr1597Ile) c.4664C>T (p.Thr1555Ile) c.4784C>T (p.Thr1595Ile) c.4712C>T (p.Thr1571Ile) c.1478C>T (p.Thr493Ile) c.1340C>T (p.Thr447Ile) c.3902C>T (p.Thr1301Ile) c.4667C>T (p.Thr1556Ile) c.4856C>T (p.Thr1619Ile) c.4649C>T (p.Thr1550Ile) c.1352C>T (p.Thr451Ile) c.1397C>T (p.Thr466Ile) c.4853C>T (p.Thr1618Ile) c.1177C>T c.1364C>T (p.Thr455Ile) c.4573C>T (n.4573C>T) c.1103C>T (p.Thr368Ile) c.5-7173C>T (n.5-7173C>T) c.263C>T (p.Thr88Ile) c.-98-20934C>T (n.-98-20934C>T) n.4926C>T n.4967C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071124G>C	CA10591938	BRCA1	c.4787C>G (p.Thr1596Ser) c.4790C>G (p.Thr1597Ser) c.4664C>G (p.Thr1555Ser) c.4784C>G (p.Thr1595Ser) c.4712C>G (p.Thr1571Ser) c.1478C>G (p.Thr493Ser) c.1340C>G (p.Thr447Ser) c.3902C>G (p.Thr1301Ser) c.4667C>G (p.Thr1556Ser) c.4856C>G (p.Thr1619Ser) c.4649C>G (p.Thr1550Ser) c.1352C>G (p.Thr451Ser) c.1397C>G (p.Thr466Ser) c.4853C>G (p.Thr1618Ser) c.1177C>G c.1364C>G (p.Thr455Ser) c.4573C>G (n.4573C>G) c.1103C>G (p.Thr368Ser) c.5-7173C>G (n.5-7173C>G) c.263C>G (p.Thr88Ser) c.-98-20934C>G (n.-98-20934C>G) n.4926C>G n.4967C>G	ClinVar dbSNP
17	g.43071124G=	CA2260772936	BRCA1	c.4787C= (p.Thr1596=) c.4790C= (p.Thr1597=) c.4664C= (p.Thr1555=) c.4784C= (p.Thr1595=) c.4712C= (p.Thr1571=) c.1478C= (p.Thr493=) c.1340C= (p.Thr447=) c.3902C= (p.Thr1301=) c.4667C= (p.Thr1556=) c.4856C= (p.Thr1619=) c.4649C= (p.Thr1550=) c.1352C= (p.Thr451=) c.1397C= (p.Thr466=) c.4853C= (p.Thr1618=) c.1177C= c.1364C= (p.Thr455=) c.4573C= (n.4573C=) c.1103C= (p.Thr368=) c.5-7173C= (n.5-7173C=) c.263C= (p.Thr88=) c.-98-20934C= (n.-98-20934C=) n.4926C= n.4967C=
17	g.43071124G>T	CA003024	BRCA1	c.4787C>A (p.Thr1596Asn) c.4790C>A (p.Thr1597Asn) c.4664C>A (p.Thr1555Asn) c.4784C>A (p.Thr1595Asn) c.4712C>A (p.Thr1571Asn) c.1478C>A (p.Thr493Asn) c.1340C>A (p.Thr447Asn) c.3902C>A (p.Thr1301Asn) c.4667C>A (p.Thr1556Asn) c.4856C>A (p.Thr1619Asn) c.4649C>A (p.Thr1550Asn) c.1352C>A (p.Thr451Asn) c.1397C>A (p.Thr466Asn) c.4853C>A (p.Thr1618Asn) c.1177C>A c.1364C>A (p.Thr455Asn) c.4573C>A (n.4573C>A) c.1103C>A (p.Thr368Asn) c.5-7173C>A (n.5-7173C>A) c.263C>A (p.Thr88Asn) c.-98-20934C>A (n.-98-20934C>A) n.4926C>A n.4967C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.43071125_43071130del	CA645578304	BRCA1	c.4782_4787del (p.Ser1595_Thr1596del) c.4785_4790del (p.Ser1596_Thr1597del) c.4659_4664del (p.Ser1554_Thr1555del) c.4779_4784del (p.Ser1594_Thr1595del) c.4707_4712del (p.Ser1570_Thr1571del) c.1473_1478del (p.Ser492_Thr493del) c.1335_1340del (p.Ser446_Thr447del) c.3897_3902del (p.Ser1300_Thr1301del) c.4662_4667del (p.Ser1555_Thr1556del) c.4851_4856del (p.Ser1618_Thr1619del) c.4644_4649del (p.Ser1549_Thr1550del) c.1347_1352del (p.Ser450_Thr451del) c.1392_1397del (p.Ser465_Thr466del) c.4848_4853del (p.Ser1617_Thr1618del) c.1172_1177del c.1359_1364del (p.Ser454_Thr455del) c.4568_4573del (n.4568_4573del) c.1098_1103del (p.Ser367_Thr368del) c.5-7178_5-7173del (n.5-7178_5-7173del) c.258_263del (p.Ser87_Thr88del) c.-98-20939_-98-20934del (n.-98-20939_-98-20934del) n.4921_4926del n.4962_4967del	COSMIC COSMIC
17	g.43071125T>A	CA10591939	BRCA1	c.4786A>T (p.Thr1596Ser) c.4789A>T (p.Thr1597Ser) c.4663A>T (p.Thr1555Ser) c.4783A>T (p.Thr1595Ser) c.4711A>T (p.Thr1571Ser) c.1477A>T (p.Thr493Ser) c.1339A>T (p.Thr447Ser) c.3901A>T (p.Thr1301Ser) c.4666A>T (p.Thr1556Ser) c.4855A>T (p.Thr1619Ser) c.4648A>T (p.Thr1550Ser) c.1351A>T (p.Thr451Ser) c.1396A>T (p.Thr466Ser) c.4852A>T (p.Thr1618Ser) c.1176A>T c.1363A>T (p.Thr455Ser) c.4572A>T (n.4572A>T) c.1102A>T (p.Thr368Ser) c.5-7174A>T (n.5-7174A>T) c.262A>T (p.Thr88Ser) c.-98-20935A>T (n.-98-20935A>T) n.4925A>T n.4966A>T	dbSNP
17	g.43071125T>C	CA003023	BRCA1	c.4786A>G (p.Thr1596Ala) c.4789A>G (p.Thr1597Ala) c.4663A>G (p.Thr1555Ala) c.4783A>G (p.Thr1595Ala) c.4711A>G (p.Thr1571Ala) c.1477A>G (p.Thr493Ala) c.1339A>G (p.Thr447Ala) c.3901A>G (p.Thr1301Ala) c.4666A>G (p.Thr1556Ala) c.4855A>G (p.Thr1619Ala) c.4648A>G (p.Thr1550Ala) c.1351A>G (p.Thr451Ala) c.1396A>G (p.Thr466Ala) c.4852A>G (p.Thr1618Ala) c.1176A>G c.1363A>G (p.Thr455Ala) c.4572A>G (n.4572A>G) c.1102A>G (p.Thr368Ala) c.5-7174A>G (n.5-7174A>G) c.262A>G (p.Thr88Ala) c.-98-20935A>G (n.-98-20935A>G) n.4925A>G n.4966A>G	ClinVar dbSNP gnomAD v4
17	g.43071125T>G	CA10591940	BRCA1	c.4786A>C (p.Thr1596Pro) c.4789A>C (p.Thr1597Pro) c.4663A>C (p.Thr1555Pro) c.4783A>C (p.Thr1595Pro) c.4711A>C (p.Thr1571Pro) c.1477A>C (p.Thr493Pro) c.1339A>C (p.Thr447Pro) c.3901A>C (p.Thr1301Pro) c.4666A>C (p.Thr1556Pro) c.4855A>C (p.Thr1619Pro) c.4648A>C (p.Thr1550Pro) c.1351A>C (p.Thr451Pro) c.1396A>C (p.Thr466Pro) c.4852A>C (p.Thr1618Pro) c.1176A>C c.1363A>C (p.Thr455Pro) c.4572A>C (n.4572A>C) c.1102A>C (p.Thr368Pro) c.5-7174A>C (n.5-7174A>C) c.262A>C (p.Thr88Pro) c.-98-20935A>C (n.-98-20935A>C) n.4925A>C n.4966A>C	dbSNP
17	g.43071125T=	CA2260772937	BRCA1	c.4786A= (p.Thr1596=) c.4789A= (p.Thr1597=) c.4663A= (p.Thr1555=) c.4783A= (p.Thr1595=) c.4711A= (p.Thr1571=) c.1477A= (p.Thr493=) c.1339A= (p.Thr447=) c.3901A= (p.Thr1301=) c.4666A= (p.Thr1556=) c.4855A= (p.Thr1619=) c.4648A= (p.Thr1550=) c.1351A= (p.Thr451=) c.1396A= (p.Thr466=) c.4852A= (p.Thr1618=) c.1176A= c.1363A= (p.Thr455=) c.4572A= (n.4572A=) c.1102A= (p.Thr368=) c.5-7174A= (n.5-7174A=) c.262A= (p.Thr88=) c.-98-20935A= (n.-98-20935A=) n.4925A= n.4966A=
17	g.43071126T>A	CA500231837	BRCA1	c.4785A>T (p.Ser1595=) c.4788A>T (p.Ser1596=) c.4662A>T (p.Ser1554=) c.4782A>T (p.Ser1594=) c.4710A>T (p.Ser1570=) c.1476A>T (p.Ser492=) c.1338A>T (p.Ser446=) c.3900A>T (p.Ser1300=) c.4665A>T (p.Ser1555=) c.4854A>T (p.Ser1618=) c.4647A>T (p.Ser1549=) c.1350A>T (p.Ser450=) c.1395A>T (p.Ser465=) c.4851A>T (p.Ser1617=) c.1175A>T c.1362A>T (p.Ser454=) c.4571A>T (n.4571A>T) c.1101A>T (p.Ser367=) c.5-7175A>T (n.5-7175A>T) c.261A>T (p.Ser87=) c.-98-20936A>T (n.-98-20936A>T) n.4924A>T n.4965A>T	dbSNP
17	g.43071126T>C	CA500231838	BRCA1	c.4785A>G (p.Ser1595=) c.4788A>G (p.Ser1596=) c.4662A>G (p.Ser1554=) c.4782A>G (p.Ser1594=) c.4710A>G (p.Ser1570=) c.1476A>G (p.Ser492=) c.1338A>G (p.Ser446=) c.3900A>G (p.Ser1300=) c.4665A>G (p.Ser1555=) c.4854A>G (p.Ser1618=) c.4647A>G (p.Ser1549=) c.1350A>G (p.Ser450=) c.1395A>G (p.Ser465=) c.4851A>G (p.Ser1617=) c.1175A>G c.1362A>G (p.Ser454=) c.4571A>G (n.4571A>G) c.1101A>G (p.Ser367=) c.5-7175A>G (n.5-7175A>G) c.261A>G (p.Ser87=) c.-98-20936A>G (n.-98-20936A>G) n.4924A>G n.4965A>G	gnomAD v4
17	g.43071126T>G	CA500231839	BRCA1	c.4785A>C (p.Ser1595=) c.4788A>C (p.Ser1596=) c.4662A>C (p.Ser1554=) c.4782A>C (p.Ser1594=) c.4710A>C (p.Ser1570=) c.1476A>C (p.Ser492=) c.1338A>C (p.Ser446=) c.3900A>C (p.Ser1300=) c.4665A>C (p.Ser1555=) c.4854A>C (p.Ser1618=) c.4647A>C (p.Ser1549=) c.1350A>C (p.Ser450=) c.1395A>C (p.Ser465=) c.4851A>C (p.Ser1617=) c.1175A>C c.1362A>C (p.Ser454=) c.4571A>C (n.4571A>C) c.1101A>C (p.Ser367=) c.5-7175A>C (n.5-7175A>C) c.261A>C (p.Ser87=) c.-98-20936A>C (n.-98-20936A>C) n.4924A>C n.4965A>C	ClinVar
17	g.43071127G>A	CA003022	BRCA1	c.4784C>T (p.Ser1595Leu) c.4787C>T (p.Ser1596Leu) c.4661C>T (p.Ser1554Leu) c.4781C>T (p.Ser1594Leu) c.4709C>T (p.Ser1570Leu) c.1475C>T (p.Ser492Leu) c.1337C>T (p.Ser446Leu) c.3899C>T (p.Ser1300Leu) c.4664C>T (p.Ser1555Leu) c.4853C>T (p.Ser1618Leu) c.4646C>T (p.Ser1549Leu) c.1349C>T (p.Ser450Leu) c.1394C>T (p.Ser465Leu) c.4850C>T (p.Ser1617Leu) c.1174C>T c.1361C>T (p.Ser454Leu) c.4570C>T (n.4570C>T) c.1100C>T (p.Ser367Leu) c.5-7176C>T (n.5-7176C>T) c.260C>T (p.Ser87Leu) c.-98-20937C>T (n.-98-20937C>T) n.4923C>T n.4964C>T	ClinVar dbSNP
17	g.43071127G>C	CA10591941	BRCA1	c.4784C>G (p.Ser1595Ter) c.4787C>G (p.Ser1596Ter) c.4661C>G (p.Ser1554Ter) c.4781C>G (p.Ser1594Ter) c.4709C>G (p.Ser1570Ter) c.1475C>G (p.Ser492Ter) c.1337C>G (p.Ser446Ter) c.3899C>G (p.Ser1300Ter) c.4664C>G (p.Ser1555Ter) c.4853C>G (p.Ser1618Ter) c.4646C>G (p.Ser1549Ter) c.1349C>G (p.Ser450Ter) c.1394C>G (p.Ser465Ter) c.4850C>G (p.Ser1617Ter) c.1174C>G c.1361C>G (p.Ser454Ter) c.4570C>G (n.4570C>G) c.1100C>G (p.Ser367Ter) c.5-7176C>G (n.5-7176C>G) c.260C>G (p.Ser87Ter) c.-98-20937C>G (n.-98-20937C>G) n.4923C>G n.4964C>G	dbSNP
17	g.43071127G=	CA2260772938	BRCA1	c.4784C= (p.Ser1595=) c.4787C= (p.Ser1596=) c.4661C= (p.Ser1554=) c.4781C= (p.Ser1594=) c.4709C= (p.Ser1570=) c.1475C= (p.Ser492=) c.1337C= (p.Ser446=) c.3899C= (p.Ser1300=) c.4664C= (p.Ser1555=) c.4853C= (p.Ser1618=) c.4646C= (p.Ser1549=) c.1349C= (p.Ser450=) c.1394C= (p.Ser465=) c.4850C= (p.Ser1617=) c.1174C= c.1361C= (p.Ser454=) c.4570C= (n.4570C=) c.1100C= (p.Ser367=) c.5-7176C= (n.5-7176C=) c.260C= (p.Ser87=) c.-98-20937C= (n.-98-20937C=) n.4923C= n.4964C=
17	g.43071127G>T	CA10591942	BRCA1	c.4784C>A (p.Ser1595Ter) c.4787C>A (p.Ser1596Ter) c.4661C>A (p.Ser1554Ter) c.4781C>A (p.Ser1594Ter) c.4709C>A (p.Ser1570Ter) c.1475C>A (p.Ser492Ter) c.1337C>A (p.Ser446Ter) c.3899C>A (p.Ser1300Ter) c.4664C>A (p.Ser1555Ter) c.4853C>A (p.Ser1618Ter) c.4646C>A (p.Ser1549Ter) c.1349C>A (p.Ser450Ter) c.1394C>A (p.Ser465Ter) c.4850C>A (p.Ser1617Ter) c.1174C>A c.1361C>A (p.Ser454Ter) c.4570C>A (n.4570C>A) c.1100C>A (p.Ser367Ter) c.5-7176C>A (n.5-7176C>A) c.260C>A (p.Ser87Ter) c.-98-20937C>A (n.-98-20937C>A) n.4923C>A n.4964C>A	ClinVar dbSNP COSMIC COSMIC
17	g.43071128A=	CA2260772939	BRCA1	c.4783T= (p.Ser1595=) c.4786T= (p.Ser1596=) c.4660T= (p.Ser1554=) c.4780T= (p.Ser1594=) c.4708T= (p.Ser1570=) c.1474T= (p.Ser492=) c.1336T= (p.Ser446=) c.3898T= (p.Ser1300=) c.4663T= (p.Ser1555=) c.4852T= (p.Ser1618=) c.4645T= (p.Ser1549=) c.1348T= (p.Ser450=) c.1393T= (p.Ser465=) c.4849T= (p.Ser1617=) c.1173T= c.1360T= (p.Ser454=) c.4569T= (n.4569T=) c.1099T= (p.Ser367=) c.5-7177T= (n.5-7177T=) c.259T= (p.Ser87=) c.-98-20938T= (n.-98-20938T=) n.4922T= n.4963T=
17	g.43071128A>C	CA10591943	BRCA1	c.4783T>G (p.Ser1595Ala) c.4786T>G (p.Ser1596Ala) c.4660T>G (p.Ser1554Ala) c.4780T>G (p.Ser1594Ala) c.4708T>G (p.Ser1570Ala) c.1474T>G (p.Ser492Ala) c.1336T>G (p.Ser446Ala) c.3898T>G (p.Ser1300Ala) c.4663T>G (p.Ser1555Ala) c.4852T>G (p.Ser1618Ala) c.4645T>G (p.Ser1549Ala) c.1348T>G (p.Ser450Ala) c.1393T>G (p.Ser465Ala) c.4849T>G (p.Ser1617Ala) c.1173T>G c.1360T>G (p.Ser454Ala) c.4569T>G (n.4569T>G) c.1099T>G (p.Ser367Ala) c.5-7177T>G (n.5-7177T>G) c.259T>G (p.Ser87Ala) c.-98-20938T>G (n.-98-20938T>G) n.4922T>G n.4963T>G	ClinVar dbSNP
17	g.43071128A>G	CA10591944	BRCA1	c.4783T>C (p.Ser1595Pro) c.4786T>C (p.Ser1596Pro) c.4660T>C (p.Ser1554Pro) c.4780T>C (p.Ser1594Pro) c.4708T>C (p.Ser1570Pro) c.1474T>C (p.Ser492Pro) c.1336T>C (p.Ser446Pro) c.3898T>C (p.Ser1300Pro) c.4663T>C (p.Ser1555Pro) c.4852T>C (p.Ser1618Pro) c.4645T>C (p.Ser1549Pro) c.1348T>C (p.Ser450Pro) c.1393T>C (p.Ser465Pro) c.4849T>C (p.Ser1617Pro) c.1173T>C c.1360T>C (p.Ser454Pro) c.4569T>C (n.4569T>C) c.1099T>C (p.Ser367Pro) c.5-7177T>C (n.5-7177T>C) c.259T>C (p.Ser87Pro) c.-98-20938T>C (n.-98-20938T>C) n.4922T>C n.4963T>C	dbSNP
17	g.43071128A>T	CA10591945	BRCA1	c.4783T>A (p.Ser1595Thr) c.4786T>A (p.Ser1596Thr) c.4660T>A (p.Ser1554Thr) c.4780T>A (p.Ser1594Thr) c.4708T>A (p.Ser1570Thr) c.1474T>A (p.Ser492Thr) c.1336T>A (p.Ser446Thr) c.3898T>A (p.Ser1300Thr) c.4663T>A (p.Ser1555Thr) c.4852T>A (p.Ser1618Thr) c.4645T>A (p.Ser1549Thr) c.1348T>A (p.Ser450Thr) c.1393T>A (p.Ser465Thr) c.4849T>A (p.Ser1617Thr) c.1173T>A c.1360T>A (p.Ser454Thr) c.4569T>A (n.4569T>A) c.1099T>A (p.Ser367Thr) c.5-7177T>A (n.5-7177T>A) c.259T>A (p.Ser87Thr) c.-98-20938T>A (n.-98-20938T>A) n.4922T>A n.4963T>A	dbSNP
17	g.43071129A>C	CA500231840	BRCA1	c.4782T>G (p.Ser1594=) c.4785T>G (p.Ser1595=) c.4659T>G (p.Ser1553=) c.4779T>G (p.Ser1593=) c.4707T>G (p.Ser1569=) c.1473T>G (p.Ser491=) c.1335T>G (p.Ser445=) c.3897T>G (p.Ser1299=) c.4662T>G (p.Ser1554=) c.4851T>G (p.Ser1617=) c.4644T>G (p.Ser1548=) c.1347T>G (p.Ser449=) c.1392T>G (p.Ser464=) c.4848T>G (p.Ser1616=) c.1172T>G c.1359T>G (p.Ser453=) c.4568T>G (n.4568T>G) c.1098T>G (p.Ser366=) c.5-7178T>G (n.5-7178T>G) c.258T>G (p.Ser86=) c.-98-20939T>G (n.-98-20939T>G) n.4921T>G n.4962T>G
17	g.43071129A>G	CA500231841	BRCA1	c.4782T>C (p.Ser1594=) c.4785T>C (p.Ser1595=) c.4659T>C (p.Ser1553=) c.4779T>C (p.Ser1593=) c.4707T>C (p.Ser1569=) c.1473T>C (p.Ser491=) c.1335T>C (p.Ser445=) c.3897T>C (p.Ser1299=) c.4662T>C (p.Ser1554=) c.4851T>C (p.Ser1617=) c.4644T>C (p.Ser1548=) c.1347T>C (p.Ser449=) c.1392T>C (p.Ser464=) c.4848T>C (p.Ser1616=) c.1172T>C c.1359T>C (p.Ser453=) c.4568T>C (n.4568T>C) c.1098T>C (p.Ser366=) c.5-7178T>C (n.5-7178T>C) c.258T>C (p.Ser86=) c.-98-20939T>C (n.-98-20939T>C) n.4921T>C n.4962T>C
17	g.43071129A>T	CA500231842	BRCA1	c.4782T>A (p.Ser1594=) c.4785T>A (p.Ser1595=) c.4659T>A (p.Ser1553=) c.4779T>A (p.Ser1593=) c.4707T>A (p.Ser1569=) c.1473T>A (p.Ser491=) c.1335T>A (p.Ser445=) c.3897T>A (p.Ser1299=) c.4662T>A (p.Ser1554=) c.4851T>A (p.Ser1617=) c.4644T>A (p.Ser1548=) c.1347T>A (p.Ser449=) c.1392T>A (p.Ser464=) c.4848T>A (p.Ser1616=) c.1172T>A c.1359T>A (p.Ser453=) c.4568T>A (n.4568T>A) c.1098T>A (p.Ser366=) c.5-7178T>A (n.5-7178T>A) c.258T>A (p.Ser86=) c.-98-20939T>A (n.-98-20939T>A) n.4921T>A n.4962T>A	dbSNP
17	g.43071129_43071130delinsAG	CA2260772940	BRCA1	c.4781_4782delinsCT (p.Ser1594=) c.4784_4785delinsCT (p.Ser1595=) c.4658_4659delinsCT (p.Ser1553=) c.4778_4779delinsCT (p.Ser1593=) c.4706_4707delinsCT (p.Ser1569=) c.1472_1473delinsCT (p.Ser491=) c.1334_1335delinsCT (p.Ser445=) c.3896_3897delinsCT (p.Ser1299=) c.4661_4662delinsCT (p.Ser1554=) c.4850_4851delinsCT (p.Ser1617=) c.4643_4644delinsCT (p.Ser1548=) c.1346_1347delinsCT (p.Ser449=) c.1391_1392delinsCT (p.Ser464=) c.4847_4848delinsCT (p.Ser1616=) c.1171_1172delinsCT c.1358_1359delinsCT (p.Ser453=) c.4567_4568delinsCT (n.4567_4568delinsCT) c.1097_1098delinsCT (p.Ser366=) c.5-7179_5-7178delinsCT (n.5-7179_5-7178delinsCT) c.257_258delinsCT (p.Ser86=) c.-98-20940_-98-20939delinsCT (n.-98-20940_-98-20939delinsCT) n.4920_4921delinsCT n.4961_4962delinsCT
17	g.43071130del	CA10589644	BRCA1	c.4781del (p.Ser1594PhefsTer6) c.4784del (p.Ser1595PhefsTer6) c.4658del (p.Ser1553PhefsTer6) c.4778del (p.Ser1593PhefsTer6) c.4706del (p.Ser1569PhefsTer6) c.1472del (p.Ser491PhefsTer6) c.1334del (p.Ser445PhefsTer6) c.3896del (p.Ser1299PhefsTer6) c.4661del (p.Ser1554PhefsTer6) c.4850del (p.Ser1617PhefsTer6) c.4643del (p.Ser1548PhefsTer6) c.1346del (p.Ser449PhefsTer6) c.1391del (p.Ser464PhefsTer6) c.4847del (p.Ser1616PhefsTer6) c.1171del c.1358del (p.Ser453PhefsTer6) c.4567del (n.4567del) c.1097del (p.Ser366PhefsTer6) c.5-7179del (n.5-7179del) c.257del (p.Ser86PhefsTer6) c.-98-20940del (n.-98-20940del) n.4920del n.4961del	ClinVar dbSNP
17	g.43071130G>A	CA10591946	BRCA1	c.4781C>T (p.Ser1594Phe) c.4784C>T (p.Ser1595Phe) c.4658C>T (p.Ser1553Phe) c.4778C>T (p.Ser1593Phe) c.4706C>T (p.Ser1569Phe) c.1472C>T (p.Ser491Phe) c.1334C>T (p.Ser445Phe) c.3896C>T (p.Ser1299Phe) c.4661C>T (p.Ser1554Phe) c.4850C>T (p.Ser1617Phe) c.4643C>T (p.Ser1548Phe) c.1346C>T (p.Ser449Phe) c.1391C>T (p.Ser464Phe) c.4847C>T (p.Ser1616Phe) c.1171C>T c.1358C>T (p.Ser453Phe) c.4567C>T (n.4567C>T) c.1097C>T (p.Ser366Phe) c.5-7179C>T (n.5-7179C>T) c.257C>T (p.Ser86Phe) c.-98-20940C>T (n.-98-20940C>T) n.4920C>T n.4961C>T	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
17	g.43071130G>C	CA10591947	BRCA1	c.4781C>G (p.Ser1594Cys) c.4784C>G (p.Ser1595Cys) c.4658C>G (p.Ser1553Cys) c.4778C>G (p.Ser1593Cys) c.4706C>G (p.Ser1569Cys) c.1472C>G (p.Ser491Cys) c.1334C>G (p.Ser445Cys) c.3896C>G (p.Ser1299Cys) c.4661C>G (p.Ser1554Cys) c.4850C>G (p.Ser1617Cys) c.4643C>G (p.Ser1548Cys) c.1346C>G (p.Ser449Cys) c.1391C>G (p.Ser464Cys) c.4847C>G (p.Ser1616Cys) c.1171C>G c.1358C>G (p.Ser453Cys) c.4567C>G (n.4567C>G) c.1097C>G (p.Ser366Cys) c.5-7179C>G (n.5-7179C>G) c.257C>G (p.Ser86Cys) c.-98-20940C>G (n.-98-20940C>G) n.4920C>G n.4961C>G	dbSNP
17	g.43071130G=	CA2260772941	BRCA1	c.4781C= (p.Ser1594=) c.4784C= (p.Ser1595=) c.4658C= (p.Ser1553=) c.4778C= (p.Ser1593=) c.4706C= (p.Ser1569=) c.1472C= (p.Ser491=) c.1334C= (p.Ser445=) c.3896C= (p.Ser1299=) c.4661C= (p.Ser1554=) c.4850C= (p.Ser1617=) c.4643C= (p.Ser1548=) c.1346C= (p.Ser449=) c.1391C= (p.Ser464=) c.4847C= (p.Ser1616=) c.1171C= c.1358C= (p.Ser453=) c.4567C= (n.4567C=) c.1097C= (p.Ser366=) c.5-7179C= (n.5-7179C=) c.257C= (p.Ser86=) c.-98-20940C= (n.-98-20940C=) n.4920C= n.4961C=
17	g.43071130G>T	CA10591948	BRCA1	c.4781C>A (p.Ser1594Tyr) c.4784C>A (p.Ser1595Tyr) c.4658C>A (p.Ser1553Tyr) c.4778C>A (p.Ser1593Tyr) c.4706C>A (p.Ser1569Tyr) c.1472C>A (p.Ser491Tyr) c.1334C>A (p.Ser445Tyr) c.3896C>A (p.Ser1299Tyr) c.4661C>A (p.Ser1554Tyr) c.4850C>A (p.Ser1617Tyr) c.4643C>A (p.Ser1548Tyr) c.1346C>A (p.Ser449Tyr) c.1391C>A (p.Ser464Tyr) c.4847C>A (p.Ser1616Tyr) c.1171C>A c.1358C>A (p.Ser453Tyr) c.4567C>A (n.4567C>A) c.1097C>A (p.Ser366Tyr) c.5-7179C>A (n.5-7179C>A) c.257C>A (p.Ser86Tyr) c.-98-20940C>A (n.-98-20940C>A) n.4920C>A n.4961C>A
17	g.43071131A=	CA2260772943	BRCA1	c.4780T= (p.Ser1594=) c.4783T= (p.Ser1595=) c.4657T= (p.Ser1553=) c.4777T= (p.Ser1593=) c.4705T= (p.Ser1569=) c.1471T= (p.Ser491=) c.1333T= (p.Ser445=) c.3895T= (p.Ser1299=) c.4660T= (p.Ser1554=) c.4849T= (p.Ser1617=) c.4642T= (p.Ser1548=) c.1345T= (p.Ser449=) c.1390T= (p.Ser464=) c.4846T= (p.Ser1616=) c.1170T= c.1357T= (p.Ser453=) c.4566T= (n.4566T=) c.1096T= (p.Ser366=) c.5-7180T= (n.5-7180T=) c.256T= (p.Ser86=) c.-98-20941T= (n.-98-20941T=) n.4919T= n.4960T=
17	g.43071131A>C	CA10591949	BRCA1	c.4780T>G (p.Ser1594Ala) c.4783T>G (p.Ser1595Ala) c.4657T>G (p.Ser1553Ala) c.4777T>G (p.Ser1593Ala) c.4705T>G (p.Ser1569Ala) c.1471T>G (p.Ser491Ala) c.1333T>G (p.Ser445Ala) c.3895T>G (p.Ser1299Ala) c.4660T>G (p.Ser1554Ala) c.4849T>G (p.Ser1617Ala) c.4642T>G (p.Ser1548Ala) c.1345T>G (p.Ser449Ala) c.1390T>G (p.Ser464Ala) c.4846T>G (p.Ser1616Ala) c.1170T>G c.1357T>G (p.Ser453Ala) c.4566T>G (n.4566T>G) c.1096T>G (p.Ser366Ala) c.5-7180T>G (n.5-7180T>G) c.256T>G (p.Ser86Ala) c.-98-20941T>G (n.-98-20941T>G) n.4919T>G n.4960T>G	ClinVar
17	g.43071131A>G	CA10591950	BRCA1	c.4780T>C (p.Ser1594Pro) c.4783T>C (p.Ser1595Pro) c.4657T>C (p.Ser1553Pro) c.4777T>C (p.Ser1593Pro) c.4705T>C (p.Ser1569Pro) c.1471T>C (p.Ser491Pro) c.1333T>C (p.Ser445Pro) c.3895T>C (p.Ser1299Pro) c.4660T>C (p.Ser1554Pro) c.4849T>C (p.Ser1617Pro) c.4642T>C (p.Ser1548Pro) c.1345T>C (p.Ser449Pro) c.1390T>C (p.Ser464Pro) c.4846T>C (p.Ser1616Pro) c.1170T>C c.1357T>C (p.Ser453Pro) c.4566T>C (n.4566T>C) c.1096T>C (p.Ser366Pro) c.5-7180T>C (n.5-7180T>C) c.256T>C (p.Ser86Pro) c.-98-20941T>C (n.-98-20941T>C) n.4919T>C n.4960T>C	ClinVar dbSNP
17	g.43071131A>T	CA10591951	BRCA1	c.4780T>A (p.Ser1594Thr) c.4783T>A (p.Ser1595Thr) c.4657T>A (p.Ser1553Thr) c.4777T>A (p.Ser1593Thr) c.4705T>A (p.Ser1569Thr) c.1471T>A (p.Ser491Thr) c.1333T>A (p.Ser445Thr) c.3895T>A (p.Ser1299Thr) c.4660T>A (p.Ser1554Thr) c.4849T>A (p.Ser1617Thr) c.4642T>A (p.Ser1548Thr) c.1345T>A (p.Ser449Thr) c.1390T>A (p.Ser464Thr) c.4846T>A (p.Ser1616Thr) c.1170T>A c.1357T>A (p.Ser453Thr) c.4566T>A (n.4566T>A) c.1096T>A (p.Ser366Thr) c.5-7180T>A (n.5-7180T>A) c.256T>A (p.Ser86Thr) c.-98-20941T>A (n.-98-20941T>A) n.4919T>A n.4960T>A	ClinVar dbSNP
17	g.43071131_43071132delinsAT	CA2260772942	BRCA1	c.4779_4780delinsAT (p.Pro1593=) c.4782_4783delinsAT (p.Pro1594=) c.4656_4657delinsAT (p.Pro1552=) c.4776_4777delinsAT (p.Pro1592=) c.4704_4705delinsAT (p.Pro1568=) c.1470_1471delinsAT (p.Pro490=) c.1332_1333delinsAT (p.Pro444=) c.3894_3895delinsAT (p.Pro1298=) c.4659_4660delinsAT (p.Pro1553=) c.4848_4849delinsAT (p.Pro1616=) c.4641_4642delinsAT (p.Pro1547=) c.1344_1345delinsAT (p.Pro448=) c.1389_1390delinsAT (p.Pro463=) c.4845_4846delinsAT (p.Pro1615=) c.1169_1170delinsAT c.1356_1357delinsAT (p.Pro452=) c.4565_4566delinsAT (n.4565_4566delinsAT) c.1095_1096delinsAT (p.Pro365=) c.5-7181_5-7180delinsAT (n.5-7181_5-7180delinsAT) c.255_256delinsAT (p.Pro85=) c.-98-20942_-98-20941delinsAT (n.-98-20942_-98-20941delinsAT) n.4918_4919delinsAT n.4959_4960delinsAT

Number of alleles fetched