Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43059235_43065439dupCA2697559969BRCA1c.5072-1461_5191-2073dup
c.5075-1461_5194-2073dup
c.4949-1461_5068-2073dup
c.5069-1461_5188-2073dup
c.4997-1461_5116-2073dup
c.1763-1461_1882-2073dup
c.1625-1461_1744-2073dup
c.4187-1461_4306-2073dup
c.4952-1461_5071-2073dup
c.5141-1461_5260-2073dup
c.4934-1461_5053-2073dup
c.1637-1461_1756-2073dup
c.5138-1461_5257-2073dup
c.1462-1461_1581-2073dup
c.1649-1461_1768-2073dup
c.*4858-1461_*4977-2073dup
c.5-1461_124-2073dup
c.548-1461_667-2073dup
c.-98-15222_-98-9018dup (n.-98-15222_-98-9018dup)
n.5211-1461_5330-2073dup
n.5252-1461_5371-2073dup
17g.43060764_43066736dupCA2580612613BRCA1c.5071+872_5190+2569dup
c.5074+872_5193+2569dup
c.4948+872_5067+2569dup
c.5068+872_5187+2569dup
c.4996+872_5115+2569dup
c.1762+872_1881+2569dup
c.1624+872_1743+2569dup
c.4186+872_4305+2569dup
c.4951+872_5070+2569dup
c.5140+872_5259+2569dup
c.4933+872_5052+2569dup
c.1636+872_1755+2569dup
c.5137+872_5256+2569dup
c.1461+872_1580+2569dup
c.1648+872_1767+2569dup
c.*4857+872_*4976+2569dup
c.5-2785_123+2569dup
c.547+872_666+2569dup
c.-98-16546_-98-10574dup (n.-98-16546_-98-10574dup)
n.5210+872_5329+2569dup
n.5251+872_5370+2569dup
17g.43061818_43066643delCA16043347BRCA1c.5071+991_5190+1541del
c.5074+991_5193+1541del
c.4948+991_5067+1541del
c.5068+991_5187+1541del
c.4996+991_5115+1541del
c.1762+991_1881+1541del
c.1624+991_1743+1541del
c.4186+991_4305+1541del
c.4951+991_5070+1541del
c.5140+991_5259+1541del
c.4933+991_5052+1541del
c.1636+991_1755+1541del
c.5137+991_5256+1541del
c.1461+991_1580+1541del
c.1648+991_1767+1541del
c.*4857+991_*4976+1541del
c.5-2666_123+1541del
c.547+991_666+1541del
c.-98-16427_-98-11602del (n.-98-16427_-98-11602del)
n.5210+991_5329+1541del
n.5251+991_5370+1541del
ClinVar
17g.43063332_43064342delCA2499224373BRCA1c.5072-390_5190+2del
c.5075-390_5193+2del
c.4949-390_5067+2del
c.5069-390_5187+2del
c.4997-390_5115+2del
c.1763-390_1881+2del
c.1625-390_1743+2del
c.4187-390_4305+2del
c.4952-390_5070+2del
c.5141-390_5259+2del
c.4934-390_5052+2del
c.1637-390_1755+2del
c.5138-390_5256+2del
c.1462-390_1580+2del
c.1649-390_1767+2del
c.*4858-390_*4976+2del
c.5-390_123+2del
c.548-390_666+2del
c.-98-14151_-98-13141del (n.-98-14151_-98-13141del)
n.5211-390_5329+2del
n.5252-390_5370+2del
ClinVar
17g.43063335_43063953delCA658655490BRCA1c.5072_5190del
c.5075_5193del
c.4949_5067del
c.5069_5187del
c.4997_5115del
c.1763_1881del
c.1625_1743del
c.4187_4305del
c.4952_5070del
c.5141_5259del
c.4934_5052del
c.1637_1755del
c.5138_5256del
c.1462_1580del
c.1649_1767del
c.*4858_*4976del
c.5_123del
c.548_666del
c.-98-13761_-98-13143del (n.-98-13761_-98-13143del)
n.5211_5329del
n.5252_5370del
ClinVar
17g.43063357_43067682dupCA1139532339BRCA1c.4998_5167dup
c.5001_5170dup
c.4875_5044dup
c.4995_5164dup
c.4923_5092dup
c.1689_1858dup
c.1551_1720dup
c.4113_4282dup
c.4878_5047dup
c.5067_5236dup
c.4860_5029dup
c.1563_1732dup
c.5064_5233dup
c.1388_1557dup
c.1575_1744dup
c.*4784_*4953dup
c.1314_1483dup
c.5-3730_100dup
c.474_643dup
c.-98-17491_-98-13166dup (n.-98-17491_-98-13166dup)
n.5137_5306dup
n.5178_5347dup
17g.43063872_43069026delCA2499224378BRCA1c.4984-1331_5149+2del
c.4987-1331_5152+2del
c.4861-1331_5026+2del
c.4981-1331_5146+2del
c.4909-1331_5074+2del
c.1675-1331_1840+2del
c.1537-1331_1702+2del
c.4099-1331_4264+2del
c.4864-1331_5029+2del
c.5053-1331_5218+2del
c.4846-1331_5011+2del
c.1549-1331_1714+2del
c.5050-1331_5215+2del
c.1374-1331_1539+2del
c.1561-1331_1726+2del
c.*4770-1331_*4935+2del
c.1300-1331_1465+2del
c.5-5075_82+2del
c.460-1331_625+2del
c.-98-18836_-98-13682del (n.-98-18836_-98-13682del)
n.5123-1331_5288+2del
n.5164-1331_5329+2del
ClinVar
17g.43063873_43063951delinsCAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCATCA2260769484BRCA1c.5072_5149+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.5075_5152+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.4949_5026+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.5069_5146+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.4997_5074+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.1763_1840+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.1625_1702+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.4187_4264+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.4952_5029+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.5141_5218+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.4934_5011+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.1637_1714+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.5138_5215+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.1462_1539+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.1649_1726+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.*4858_*4935+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.1388_1465+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.5_82+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.548_625+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
c.-98-13761_-98-13683delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG (n.-98-13761_-98-13683delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG)
n.5211_5288+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
n.5252_5329+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG
17g.43063874_43063951delCA645373156BRCA1c.5072_5149del (p.Asp1691_Trp1717delinsGly)
c.5075_5152del (p.Asp1692_Trp1718delinsGly)
c.4949_5026del (p.Asp1650_Trp1676delinsGly)
c.5069_5146del (p.Asp1690_Trp1716delinsGly)
c.4997_5074del (p.Asp1666_Trp1692delinsGly)
c.1763_1840del (p.Asp588_Trp614delinsGly)
c.1625_1702del (p.Asp542_Trp568delinsGly)
c.4187_4264del (p.Asp1396_Trp1422delinsGly)
c.4952_5029del (p.Asp1651_Trp1677delinsGly)
c.5141_5218del (p.Asp1714_Trp1740delinsGly)
c.4934_5011del (p.Asp1645_Trp1671delinsGly)
c.1637_1714del (p.Asp546_Trp572delinsGly)
c.5138_5215del (p.Asp1713_Trp1739delinsGly)
c.1462_1539del
c.1649_1726del (p.Asp550_Trp576delinsGly)
c.*4858_*4935del (n.*4858_*4935del)
c.1388_1465del (p.Asp463_Trp489delinsGly)
c.5_82del (p.Asp2_Trp28delinsGly)
c.548_625del (p.Asp183_Trp209delinsGly)
c.-98-13761_-98-13684del (n.-98-13761_-98-13684del)
n.5211_5288del
n.5252_5329del
ClinVar dbSNP
17g.43063942_43063947delCA2697559913BRCA1c.5078_5083del (p.Glu1693_Phe1694del)
c.5081_5086del (p.Glu1694_Phe1695del)
c.4955_4960del (p.Glu1652_Phe1653del)
c.5075_5080del (p.Glu1692_Phe1693del)
c.5003_5008del (p.Glu1668_Phe1669del)
c.1769_1774del (p.Glu590_Phe591del)
c.1631_1636del (p.Glu544_Phe545del)
c.4193_4198del (p.Glu1398_Phe1399del)
c.4958_4963del (p.Glu1653_Phe1654del)
c.5147_5152del (p.Glu1716_Phe1717del)
c.4940_4945del (p.Glu1647_Phe1648del)
c.1643_1648del (p.Glu548_Phe549del)
c.5144_5149del (p.Glu1715_Phe1716del)
c.1468_1473del
c.1655_1660del (p.Glu552_Phe553del)
c.*4864_*4869del (n.*4864_*4869del)
c.1394_1399del (p.Glu465_Phe466del)
c.11_16del (p.Glu4_Phe5del)
c.554_559del (p.Glu185_Phe186del)
c.-98-13755_-98-13750del (n.-98-13755_-98-13750del)
n.5217_5222del
n.5258_5263del
17g.43063945_43063946delinsTCCA2260769578BRCA1c.5077_5078delinsGA (p.Glu1693=)
c.5080_5081delinsGA (p.Glu1694=)
c.4954_4955delinsGA (p.Glu1652=)
c.5074_5075delinsGA (p.Glu1692=)
c.5002_5003delinsGA (p.Glu1668=)
c.1768_1769delinsGA (p.Glu590=)
c.1630_1631delinsGA (p.Glu544=)
c.4192_4193delinsGA (p.Glu1398=)
c.4957_4958delinsGA (p.Glu1653=)
c.5146_5147delinsGA (p.Glu1716=)
c.4939_4940delinsGA (p.Glu1647=)
c.1642_1643delinsGA (p.Glu548=)
c.5143_5144delinsGA (p.Glu1715=)
c.1467_1468delinsGA
c.1654_1655delinsGA (p.Glu552=)
c.*4863_*4864delinsGA (n.*4863_*4864delinsGA)
c.1393_1394delinsGA (p.Glu465=)
c.10_11delinsGA (p.Glu4=)
c.553_554delinsGA (p.Glu185=)
c.-98-13756_-98-13755delinsGA (n.-98-13756_-98-13755delinsGA)
n.5216_5217delinsGA
n.5257_5258delinsGA
17g.43063945_43063948delinsTCAGCA2260769579BRCA1c.5075_5078delinsCTGA (p.Ala1692=)
c.5078_5081delinsCTGA (p.Ala1693=)
c.4952_4955delinsCTGA (p.Ala1651=)
c.5072_5075delinsCTGA (p.Ala1691=)
c.5000_5003delinsCTGA (p.Ala1667=)
c.1766_1769delinsCTGA (p.Ala589=)
c.1628_1631delinsCTGA (p.Ala543=)
c.4190_4193delinsCTGA (p.Ala1397=)
c.4955_4958delinsCTGA (p.Ala1652=)
c.5144_5147delinsCTGA (p.Ala1715=)
c.4937_4940delinsCTGA (p.Ala1646=)
c.1640_1643delinsCTGA (p.Ala547=)
c.5141_5144delinsCTGA (p.Ala1714=)
c.1465_1468delinsCTGA
c.1652_1655delinsCTGA (p.Ala551=)
c.*4861_*4864delinsCTGA (n.*4861_*4864delinsCTGA)
c.1391_1394delinsCTGA (p.Ala464=)
c.8_11delinsCTGA (p.Ala3=)
c.551_554delinsCTGA (p.Ala184=)
c.-98-13758_-98-13755delinsCTGA (n.-98-13758_-98-13755delinsCTGA)
n.5214_5217delinsCTGA
n.5255_5258delinsCTGA
17g.43063945_43063949delinsTCAGCCA2260769576BRCA1c.5074_5078delinsGCTGA (p.Ala1692=)
c.5077_5081delinsGCTGA (p.Ala1693=)
c.4951_4955delinsGCTGA (p.Ala1651=)
c.5071_5075delinsGCTGA (p.Ala1691=)
c.4999_5003delinsGCTGA (p.Ala1667=)
c.1765_1769delinsGCTGA (p.Ala589=)
c.1627_1631delinsGCTGA (p.Ala543=)
c.4189_4193delinsGCTGA (p.Ala1397=)
c.4954_4958delinsGCTGA (p.Ala1652=)
c.5143_5147delinsGCTGA (p.Ala1715=)
c.4936_4940delinsGCTGA (p.Ala1646=)
c.1639_1643delinsGCTGA (p.Ala547=)
c.5140_5144delinsGCTGA (p.Ala1714=)
c.1464_1468delinsGCTGA
c.1651_1655delinsGCTGA (p.Ala551=)
c.*4860_*4864delinsGCTGA (n.*4860_*4864delinsGCTGA)
c.1390_1394delinsGCTGA (p.Ala464=)
c.7_11delinsGCTGA (p.Ala3=)
c.550_554delinsGCTGA (p.Ala184=)
c.-98-13759_-98-13755delinsGCTGA (n.-98-13759_-98-13755delinsGCTGA)
n.5213_5217delinsGCTGA
n.5254_5258delinsGCTGA
17g.43063946delCA658656679BRCA1c.5077del (p.Glu1693SerfsTer8)
c.5080del (p.Glu1694SerfsTer8)
c.4954del (p.Glu1652SerfsTer8)
c.5074del (p.Glu1692SerfsTer8)
c.5002del (p.Glu1668SerfsTer8)
c.1768del (p.Glu590SerfsTer8)
c.1630del (p.Glu544SerfsTer8)
c.4192del (p.Glu1398SerfsTer8)
c.4957del (p.Glu1653SerfsTer8)
c.5146del (p.Glu1716SerfsTer8)
c.4939del (p.Glu1647SerfsTer8)
c.1642del (p.Glu548SerfsTer8)
c.5143del (p.Glu1715SerfsTer8)
c.1467del
c.1654del (p.Glu552SerfsTer8)
c.*4863del (n.*4863del)
c.1393del (p.Glu465SerfsTer8)
c.10del (p.Glu4SerfsTer8)
c.553del (p.Glu185SerfsTer8)
c.-98-13756del (n.-98-13756del)
n.5216del
n.5257del
ClinVar dbSNP
17g.43063946C>ACA003221BRCA1c.5077G>T (p.Glu1693Ter)
c.5080G>T (p.Glu1694Ter)
c.4954G>T (p.Glu1652Ter)
c.5074G>T (p.Glu1692Ter)
c.5002G>T (p.Glu1668Ter)
c.1768G>T (p.Glu590Ter)
c.1630G>T (p.Glu544Ter)
c.4192G>T (p.Glu1398Ter)
c.4957G>T (p.Glu1653Ter)
c.5146G>T (p.Glu1716Ter)
c.4939G>T (p.Glu1647Ter)
c.1642G>T (p.Glu548Ter)
c.5143G>T (p.Glu1715Ter)
c.1467G>T
c.1654G>T (p.Glu552Ter)
c.*4863G>T (n.*4863G>T)
c.1393G>T (p.Glu465Ter)
c.10G>T (p.Glu4Ter)
c.553G>T (p.Glu185Ter)
c.-98-13756G>T (n.-98-13756G>T)
n.5216G>T
n.5257G>T
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43063946C=CA2260769580BRCA1c.5077G= (p.Glu1693=)
c.5080G= (p.Glu1694=)
c.4954G= (p.Glu1652=)
c.5074G= (p.Glu1692=)
c.5002G= (p.Glu1668=)
c.1768G= (p.Glu590=)
c.1630G= (p.Glu544=)
c.4192G= (p.Glu1398=)
c.4957G= (p.Glu1653=)
c.5146G= (p.Glu1716=)
c.4939G= (p.Glu1647=)
c.1642G= (p.Glu548=)
c.5143G= (p.Glu1715=)
c.1467G=
c.1654G= (p.Glu552=)
c.*4863G= (n.*4863G=)
c.1393G= (p.Glu465=)
c.10G= (p.Glu4=)
c.553G= (p.Glu185=)
c.-98-13756G= (n.-98-13756G=)
n.5216G=
n.5257G=
17g.43063946C>GCA10591363BRCA1c.5077G>C (p.Glu1693Gln)
c.5080G>C (p.Glu1694Gln)
c.4954G>C (p.Glu1652Gln)
c.5074G>C (p.Glu1692Gln)
c.5002G>C (p.Glu1668Gln)
c.1768G>C (p.Glu590Gln)
c.1630G>C (p.Glu544Gln)
c.4192G>C (p.Glu1398Gln)
c.4957G>C (p.Glu1653Gln)
c.5146G>C (p.Glu1716Gln)
c.4939G>C (p.Glu1647Gln)
c.1642G>C (p.Glu548Gln)
c.5143G>C (p.Glu1715Gln)
c.1467G>C
c.1654G>C (p.Glu552Gln)
c.*4863G>C (n.*4863G>C)
c.1393G>C (p.Glu465Gln)
c.10G>C (p.Glu4Gln)
c.553G>C (p.Glu185Gln)
c.-98-13756G>C (n.-98-13756G>C)
n.5216G>C
n.5257G>C
ClinVar dbSNP
17g.43063946C>TCA10591364BRCA1c.5077G>A (p.Glu1693Lys)
c.5080G>A (p.Glu1694Lys)
c.4954G>A (p.Glu1652Lys)
c.5074G>A (p.Glu1692Lys)
c.5002G>A (p.Glu1668Lys)
c.1768G>A (p.Glu590Lys)
c.1630G>A (p.Glu544Lys)
c.4192G>A (p.Glu1398Lys)
c.4957G>A (p.Glu1653Lys)
c.5146G>A (p.Glu1716Lys)
c.4939G>A (p.Glu1647Lys)
c.1642G>A (p.Glu548Lys)
c.5143G>A (p.Glu1715Lys)
c.1467G>A
c.1654G>A (p.Glu552Lys)
c.*4863G>A (n.*4863G>A)
c.1393G>A (p.Glu465Lys)
c.10G>A (p.Glu4Lys)
c.553G>A (p.Glu185Lys)
c.-98-13756G>A (n.-98-13756G>A)
n.5216G>A
n.5257G>A
ClinVar dbSNP
17g.43063946_43063949delinsGCAGAATCAACA10602579BRCA1c.5074_5077delinsTTGATTCTGC (p.Ala1692_Glu1693delinsLeuIleLeuGln)
c.5077_5080delinsTTGATTCTGC (p.Ala1693_Glu1694delinsLeuIleLeuGln)
c.4951_4954delinsTTGATTCTGC (p.Ala1651_Glu1652delinsLeuIleLeuGln)
c.5071_5074delinsTTGATTCTGC (p.Ala1691_Glu1692delinsLeuIleLeuGln)
c.4999_5002delinsTTGATTCTGC (p.Ala1667_Glu1668delinsLeuIleLeuGln)
c.1765_1768delinsTTGATTCTGC (p.Ala589_Glu590delinsLeuIleLeuGln)
c.1627_1630delinsTTGATTCTGC (p.Ala543_Glu544delinsLeuIleLeuGln)
c.4189_4192delinsTTGATTCTGC (p.Ala1397_Glu1398delinsLeuIleLeuGln)
c.4954_4957delinsTTGATTCTGC (p.Ala1652_Glu1653delinsLeuIleLeuGln)
c.5143_5146delinsTTGATTCTGC (p.Ala1715_Glu1716delinsLeuIleLeuGln)
c.4936_4939delinsTTGATTCTGC (p.Ala1646_Glu1647delinsLeuIleLeuGln)
c.1639_1642delinsTTGATTCTGC (p.Ala547_Glu548delinsLeuIleLeuGln)
c.5140_5143delinsTTGATTCTGC (p.Ala1714_Glu1715delinsLeuIleLeuGln)
c.1464_1467delinsTTGATTCTGC
c.1651_1654delinsTTGATTCTGC (p.Ala551_Glu552delinsLeuIleLeuGln)
c.*4860_*4863delinsTTGATTCTGC (n.*4860_*4863delinsTTGATTCTGC)
c.1390_1393delinsTTGATTCTGC (p.Ala464_Glu465delinsLeuIleLeuGln)
c.7_10delinsTTGATTCTGC (p.Ala3_Glu4delinsLeuIleLeuGln)
c.550_553delinsTTGATTCTGC (p.Ala184_Glu185delinsLeuIleLeuGln)
c.-98-13759_-98-13756delinsTTGATTCTGC (n.-98-13759_-98-13756delinsTTGATTCTGC)
n.5213_5216delinsTTGATTCTGC
n.5254_5257delinsTTGATTCTGC
ClinVar dbSNP
17g.43063946_43063949delinsGCAGAATGAACA003218BRCA1c.5074_5077delinsTTCATTCTGC (p.Ala1692_Glu1693delinsPheIleLeuGln)
c.5077_5080delinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln)
c.4951_4954delinsTTCATTCTGC (p.Ala1651_Glu1652delinsPheIleLeuGln)
c.5071_5074delinsTTCATTCTGC (p.Ala1691_Glu1692delinsPheIleLeuGln)
c.4999_5002delinsTTCATTCTGC (p.Ala1667_Glu1668delinsPheIleLeuGln)
c.1765_1768delinsTTCATTCTGC (p.Ala589_Glu590delinsPheIleLeuGln)
c.1627_1630delinsTTCATTCTGC (p.Ala543_Glu544delinsPheIleLeuGln)
c.4189_4192delinsTTCATTCTGC (p.Ala1397_Glu1398delinsPheIleLeuGln)
c.4954_4957delinsTTCATTCTGC (p.Ala1652_Glu1653delinsPheIleLeuGln)
c.5143_5146delinsTTCATTCTGC (p.Ala1715_Glu1716delinsPheIleLeuGln)
c.4936_4939delinsTTCATTCTGC (p.Ala1646_Glu1647delinsPheIleLeuGln)
c.1639_1642delinsTTCATTCTGC (p.Ala547_Glu548delinsPheIleLeuGln)
c.5140_5143delinsTTCATTCTGC (p.Ala1714_Glu1715delinsPheIleLeuGln)
c.1464_1467delinsTTCATTCTGC
c.1651_1654delinsTTCATTCTGC (p.Ala551_Glu552delinsPheIleLeuGln)
c.*4860_*4863delinsTTCATTCTGC (n.*4860_*4863delinsTTCATTCTGC)
c.1390_1393delinsTTCATTCTGC (p.Ala464_Glu465delinsPheIleLeuGln)
c.7_10delinsTTCATTCTGC (p.Ala3_Glu4delinsPheIleLeuGln)
c.550_553delinsTTCATTCTGC (p.Ala184_Glu185delinsPheIleLeuGln)
c.-98-13759_-98-13756delinsTTCATTCTGC (n.-98-13759_-98-13756delinsTTCATTCTGC)
n.5213_5216delinsTTCATTCTGC
n.5254_5257delinsTTCATTCTGC
ClinVar dbSNP
17g.43063948_43063950delCA003219BRCA1c.5075_5077del (p.Ala1692del)
c.5078_5080del (p.Ala1693del)
c.4952_4954del (p.Ala1651del)
c.5072_5074del (p.Ala1691del)
c.5000_5002del (p.Ala1667del)
c.1766_1768del (p.Ala589del)
c.1628_1630del (p.Ala543del)
c.4190_4192del (p.Ala1397del)
c.4955_4957del (p.Ala1652del)
c.5144_5146del (p.Ala1715del)
c.4937_4939del (p.Ala1646del)
c.1640_1642del (p.Ala547del)
c.5141_5143del (p.Ala1714del)
c.1465_1467del
c.1652_1654del (p.Ala551del)
c.*4861_*4863del (n.*4861_*4863del)
c.1391_1393del (p.Ala464del)
c.8_10del (p.Ala3del)
c.551_553del (p.Ala184del)
c.-98-13758_-98-13756del (n.-98-13758_-98-13756del)
n.5214_5216del
n.5255_5257del
ClinVar dbSNP
17g.43063947A=CA2260769582BRCA1c.5076T= (p.Ala1692=)
c.5079T= (p.Ala1693=)
c.4953T= (p.Ala1651=)
c.5073T= (p.Ala1691=)
c.5001T= (p.Ala1667=)
c.1767T= (p.Ala589=)
c.1629T= (p.Ala543=)
c.4191T= (p.Ala1397=)
c.4956T= (p.Ala1652=)
c.5145T= (p.Ala1715=)
c.4938T= (p.Ala1646=)
c.1641T= (p.Ala547=)
c.5142T= (p.Ala1714=)
c.1466T=
c.1653T= (p.Ala551=)
c.*4862T= (n.*4862T=)
c.1392T= (p.Ala464=)
c.9T= (p.Ala3=)
c.552T= (p.Ala184=)
c.-98-13757T= (n.-98-13757T=)
n.5215T=
n.5256T=
17g.43063947A>CCA500146216BRCA1c.5076T>G (p.Ala1692=)
c.5079T>G (p.Ala1693=)
c.4953T>G (p.Ala1651=)
c.5073T>G (p.Ala1691=)
c.5001T>G (p.Ala1667=)
c.1767T>G (p.Ala589=)
c.1629T>G (p.Ala543=)
c.4191T>G (p.Ala1397=)
c.4956T>G (p.Ala1652=)
c.5145T>G (p.Ala1715=)
c.4938T>G (p.Ala1646=)
c.1641T>G (p.Ala547=)
c.5142T>G (p.Ala1714=)
c.1466T>G
c.1653T>G (p.Ala551=)
c.*4862T>G (n.*4862T>G)
c.1392T>G (p.Ala464=)
c.9T>G (p.Ala3=)
c.552T>G (p.Ala184=)
c.-98-13757T>G (n.-98-13757T>G)
n.5215T>G
n.5256T>G
ClinVar dbSNP
17g.43063947A>GCA500146217BRCA1c.5076T>C (p.Ala1692=)
c.5079T>C (p.Ala1693=)
c.4953T>C (p.Ala1651=)
c.5073T>C (p.Ala1691=)
c.5001T>C (p.Ala1667=)
c.1767T>C (p.Ala589=)
c.1629T>C (p.Ala543=)
c.4191T>C (p.Ala1397=)
c.4956T>C (p.Ala1652=)
c.5145T>C (p.Ala1715=)
c.4938T>C (p.Ala1646=)
c.1641T>C (p.Ala547=)
c.5142T>C (p.Ala1714=)
c.1466T>C
c.1653T>C (p.Ala551=)
c.*4862T>C (n.*4862T>C)
c.1392T>C (p.Ala464=)
c.9T>C (p.Ala3=)
c.552T>C (p.Ala184=)
c.-98-13757T>C (n.-98-13757T>C)
n.5215T>C
n.5256T>C
ClinVar dbSNP gnomAD v4
17g.43063947A>TCA500146218BRCA1c.5076T>A (p.Ala1692=)
c.5079T>A (p.Ala1693=)
c.4953T>A (p.Ala1651=)
c.5073T>A (p.Ala1691=)
c.5001T>A (p.Ala1667=)
c.1767T>A (p.Ala589=)
c.1629T>A (p.Ala543=)
c.4191T>A (p.Ala1397=)
c.4956T>A (p.Ala1652=)
c.5145T>A (p.Ala1715=)
c.4938T>A (p.Ala1646=)
c.1641T>A (p.Ala547=)
c.5142T>A (p.Ala1714=)
c.1466T>A
c.1653T>A (p.Ala551=)
c.*4862T>A (n.*4862T>A)
c.1392T>A (p.Ala464=)
c.9T>A (p.Ala3=)
c.552T>A (p.Ala184=)
c.-98-13757T>A (n.-98-13757T>A)
n.5215T>A
n.5256T>A
ClinVar dbSNP
17g.43063947_43063951delinsAGCATCA2260769581BRCA1c.5072_5076delinsATGCT (p.Asp1691=)
c.5075_5079delinsATGCT (p.Asp1692=)
c.4949_4953delinsATGCT (p.Asp1650=)
c.5069_5073delinsATGCT (p.Asp1690=)
c.4997_5001delinsATGCT (p.Asp1666=)
c.1763_1767delinsATGCT (p.Asp588=)
c.1625_1629delinsATGCT (p.Asp542=)
c.4187_4191delinsATGCT (p.Asp1396=)
c.4952_4956delinsATGCT (p.Asp1651=)
c.5141_5145delinsATGCT (p.Asp1714=)
c.4934_4938delinsATGCT (p.Asp1645=)
c.1637_1641delinsATGCT (p.Asp546=)
c.5138_5142delinsATGCT (p.Asp1713=)
c.1462_1466delinsATGCT
c.1649_1653delinsATGCT (p.Asp550=)
c.*4858_*4862delinsATGCT (n.*4858_*4862delinsATGCT)
c.1388_1392delinsATGCT (p.Asp463=)
c.5_9delinsATGCT (p.Asp2=)
c.548_552delinsATGCT (p.Asp183=)
c.-98-13761_-98-13757delinsATGCT (n.-98-13761_-98-13757delinsATGCT)
n.5211_5215delinsATGCT
n.5252_5256delinsATGCT
17g.43063948G>ACA10591365BRCA1c.5075C>T (p.Ala1692Val)
c.5078C>T (p.Ala1693Val)
c.4952C>T (p.Ala1651Val)
c.5072C>T (p.Ala1691Val)
c.5000C>T (p.Ala1667Val)
c.1766C>T (p.Ala589Val)
c.1628C>T (p.Ala543Val)
c.4190C>T (p.Ala1397Val)
c.4955C>T (p.Ala1652Val)
c.5144C>T (p.Ala1715Val)
c.4937C>T (p.Ala1646Val)
c.1640C>T (p.Ala547Val)
c.5141C>T (p.Ala1714Val)
c.1465C>T
c.1652C>T (p.Ala551Val)
c.*4861C>T (n.*4861C>T)
c.1391C>T (p.Ala464Val)
c.8C>T (p.Ala3Val)
c.551C>T (p.Ala184Val)
c.-98-13758C>T (n.-98-13758C>T)
n.5214C>T
n.5255C>T
ClinVar dbSNP
17g.43063948G>CCA10591366BRCA1c.5075C>G (p.Ala1692Gly)
c.5078C>G (p.Ala1693Gly)
c.4952C>G (p.Ala1651Gly)
c.5072C>G (p.Ala1691Gly)
c.5000C>G (p.Ala1667Gly)
c.1766C>G (p.Ala589Gly)
c.1628C>G (p.Ala543Gly)
c.4190C>G (p.Ala1397Gly)
c.4955C>G (p.Ala1652Gly)
c.5144C>G (p.Ala1715Gly)
c.4937C>G (p.Ala1646Gly)
c.1640C>G (p.Ala547Gly)
c.5141C>G (p.Ala1714Gly)
c.1465C>G
c.1652C>G (p.Ala551Gly)
c.*4861C>G (n.*4861C>G)
c.1391C>G (p.Ala464Gly)
c.8C>G (p.Ala3Gly)
c.551C>G (p.Ala184Gly)
c.-98-13758C>G (n.-98-13758C>G)
n.5214C>G
n.5255C>G
ClinVar dbSNP gnomAD v4
17g.43063948G=CA2260769583BRCA1c.5075C= (p.Ala1692=)
c.5078C= (p.Ala1693=)
c.4952C= (p.Ala1651=)
c.5072C= (p.Ala1691=)
c.5000C= (p.Ala1667=)
c.1766C= (p.Ala589=)
c.1628C= (p.Ala543=)
c.4190C= (p.Ala1397=)
c.4955C= (p.Ala1652=)
c.5144C= (p.Ala1715=)
c.4937C= (p.Ala1646=)
c.1640C= (p.Ala547=)
c.5141C= (p.Ala1714=)
c.1465C=
c.1652C= (p.Ala551=)
c.*4861C= (n.*4861C=)
c.1391C= (p.Ala464=)
c.8C= (p.Ala3=)
c.551C= (p.Ala184=)
c.-98-13758C= (n.-98-13758C=)
n.5214C=
n.5255C=
17g.43063948G>TCA10591367BRCA1c.5075C>A (p.Ala1692Asp)
c.5078C>A (p.Ala1693Asp)
c.4952C>A (p.Ala1651Asp)
c.5072C>A (p.Ala1691Asp)
c.5000C>A (p.Ala1667Asp)
c.1766C>A (p.Ala589Asp)
c.1628C>A (p.Ala543Asp)
c.4190C>A (p.Ala1397Asp)
c.4955C>A (p.Ala1652Asp)
c.5144C>A (p.Ala1715Asp)
c.4937C>A (p.Ala1646Asp)
c.1640C>A (p.Ala547Asp)
c.5141C>A (p.Ala1714Asp)
c.1465C>A
c.1652C>A (p.Ala551Asp)
c.*4861C>A (n.*4861C>A)
c.1391C>A (p.Ala464Asp)
c.8C>A (p.Ala3Asp)
c.551C>A (p.Ala184Asp)
c.-98-13758C>A (n.-98-13758C>A)
n.5214C>A
n.5255C>A
ClinVar dbSNP
17g.43063948_43063951delCA003211BRCA1c.5072_5075del (p.Asp1691ValfsTer9)
c.5075_5078del (p.Asp1692ValfsTer9)
c.4949_4952del (p.Asp1650ValfsTer9)
c.5069_5072del (p.Asp1690ValfsTer9)
c.4997_5000del (p.Asp1666ValfsTer9)
c.1763_1766del (p.Asp588ValfsTer9)
c.1625_1628del (p.Asp542ValfsTer9)
c.4187_4190del (p.Asp1396ValfsTer9)
c.4952_4955del (p.Asp1651ValfsTer9)
c.5141_5144del (p.Asp1714ValfsTer9)
c.4934_4937del (p.Asp1645ValfsTer9)
c.1637_1640del (p.Asp546ValfsTer9)
c.5138_5141del (p.Asp1713ValfsTer9)
c.1462_1465del
c.1649_1652del (p.Asp550ValfsTer9)
c.*4858_*4861del (n.*4858_*4861del)
c.1388_1391del (p.Asp463ValfsTer9)
c.5_8del (p.Asp2ValfsTer9)
c.548_551del (p.Asp183ValfsTer9)
c.-98-13761_-98-13758del (n.-98-13761_-98-13758del)
n.5211_5214del
n.5252_5255del
ClinVar dbSNP
17g.43063949C>ACA10591368BRCA1c.5074G>T (p.Ala1692Ser)
c.5077G>T (p.Ala1693Ser)
c.4951G>T (p.Ala1651Ser)
c.5071G>T (p.Ala1691Ser)
c.4999G>T (p.Ala1667Ser)
c.1765G>T (p.Ala589Ser)
c.1627G>T (p.Ala543Ser)
c.4189G>T (p.Ala1397Ser)
c.4954G>T (p.Ala1652Ser)
c.5143G>T (p.Ala1715Ser)
c.4936G>T (p.Ala1646Ser)
c.1639G>T (p.Ala547Ser)
c.5140G>T (p.Ala1714Ser)
c.1464G>T
c.1651G>T (p.Ala551Ser)
c.*4860G>T (n.*4860G>T)
c.1390G>T (p.Ala464Ser)
c.7G>T (p.Ala3Ser)
c.550G>T (p.Ala184Ser)
c.-98-13759G>T (n.-98-13759G>T)
n.5213G>T
n.5254G>T
ClinVar dbSNP
17g.43063949C=CA2260769585BRCA1c.5074G= (p.Ala1692=)
c.5077G= (p.Ala1693=)
c.4951G= (p.Ala1651=)
c.5071G= (p.Ala1691=)
c.4999G= (p.Ala1667=)
c.1765G= (p.Ala589=)
c.1627G= (p.Ala543=)
c.4189G= (p.Ala1397=)
c.4954G= (p.Ala1652=)
c.5143G= (p.Ala1715=)
c.4936G= (p.Ala1646=)
c.1639G= (p.Ala547=)
c.5140G= (p.Ala1714=)
c.1464G=
c.1651G= (p.Ala551=)
c.*4860G= (n.*4860G=)
c.1390G= (p.Ala464=)
c.7G= (p.Ala3=)
c.550G= (p.Ala184=)
c.-98-13759G= (n.-98-13759G=)
n.5213G=
n.5254G=
17g.43063949C>GCA10591369BRCA1c.5074G>C (p.Ala1692Pro)
c.5077G>C (p.Ala1693Pro)
c.4951G>C (p.Ala1651Pro)
c.5071G>C (p.Ala1691Pro)
c.4999G>C (p.Ala1667Pro)
c.1765G>C (p.Ala589Pro)
c.1627G>C (p.Ala543Pro)
c.4189G>C (p.Ala1397Pro)
c.4954G>C (p.Ala1652Pro)
c.5143G>C (p.Ala1715Pro)
c.4936G>C (p.Ala1646Pro)
c.1639G>C (p.Ala547Pro)
c.5140G>C (p.Ala1714Pro)
c.1464G>C
c.1651G>C (p.Ala551Pro)
c.*4860G>C (n.*4860G>C)
c.1390G>C (p.Ala464Pro)
c.7G>C (p.Ala3Pro)
c.550G>C (p.Ala184Pro)
c.-98-13759G>C (n.-98-13759G>C)
n.5213G>C
n.5254G>C
ClinVar dbSNP
17g.43063949C>TCA10591370BRCA1c.5074G>A (p.Ala1692Thr)
c.5077G>A (p.Ala1693Thr)
c.4951G>A (p.Ala1651Thr)
c.5071G>A (p.Ala1691Thr)
c.4999G>A (p.Ala1667Thr)
c.1765G>A (p.Ala589Thr)
c.1627G>A (p.Ala543Thr)
c.4189G>A (p.Ala1397Thr)
c.4954G>A (p.Ala1652Thr)
c.5143G>A (p.Ala1715Thr)
c.4936G>A (p.Ala1646Thr)
c.1639G>A (p.Ala547Thr)
c.5140G>A (p.Ala1714Thr)
c.1464G>A
c.1651G>A (p.Ala551Thr)
c.*4860G>A (n.*4860G>A)
c.1390G>A (p.Ala464Thr)
c.7G>A (p.Ala3Thr)
c.550G>A (p.Ala184Thr)
c.-98-13759G>A (n.-98-13759G>A)
n.5213G>A
n.5254G>A
ClinVar dbSNP
17g.43063949_43063950delinsCACA2260769584BRCA1c.5073_5074delinsTG (p.Asp1691=)
c.5076_5077delinsTG (p.Asp1692=)
c.4950_4951delinsTG (p.Asp1650=)
c.5070_5071delinsTG (p.Asp1690=)
c.4998_4999delinsTG (p.Asp1666=)
c.1764_1765delinsTG (p.Asp588=)
c.1626_1627delinsTG (p.Asp542=)
c.4188_4189delinsTG (p.Asp1396=)
c.4953_4954delinsTG (p.Asp1651=)
c.5142_5143delinsTG (p.Asp1714=)
c.4935_4936delinsTG (p.Asp1645=)
c.1638_1639delinsTG (p.Asp546=)
c.5139_5140delinsTG (p.Asp1713=)
c.1463_1464delinsTG
c.1650_1651delinsTG (p.Asp550=)
c.*4859_*4860delinsTG (n.*4859_*4860delinsTG)
c.1389_1390delinsTG (p.Asp463=)
c.6_7delinsTG (p.Asp2=)
c.549_550delinsTG (p.Asp183=)
c.-98-13760_-98-13759delinsTG (n.-98-13760_-98-13759delinsTG)
n.5212_5213delinsTG
n.5253_5254delinsTG
17g.43063950delCA10589620BRCA1c.5073del (p.Asp1691GlufsTer10)
c.5076del (p.Asp1692GlufsTer10)
c.4950del (p.Asp1650GlufsTer10)
c.5070del (p.Asp1690GlufsTer10)
c.4998del (p.Asp1666GlufsTer10)
c.1764del (p.Asp588GlufsTer10)
c.1626del (p.Asp542GlufsTer10)
c.4188del (p.Asp1396GlufsTer10)
c.4953del (p.Asp1651GlufsTer10)
c.5142del (p.Asp1714GlufsTer10)
c.4935del (p.Asp1645GlufsTer10)
c.1638del (p.Asp546GlufsTer10)
c.5139del (p.Asp1713GlufsTer10)
c.1463del
c.1650del (p.Asp550GlufsTer10)
c.*4859del (n.*4859del)
c.1389del (p.Asp463GlufsTer10)
c.6del (p.Asp2GlufsTer10)
c.549del (p.Asp183GlufsTer10)
c.-98-13760del (n.-98-13760del)
n.5212del
n.5253del
ClinVar dbSNP
17g.43063950A=CA2260769586BRCA1c.5073T= (p.Asp1691=)
c.5076T= (p.Asp1692=)
c.4950T= (p.Asp1650=)
c.5070T= (p.Asp1690=)
c.4998T= (p.Asp1666=)
c.1764T= (p.Asp588=)
c.1626T= (p.Asp542=)
c.4188T= (p.Asp1396=)
c.4953T= (p.Asp1651=)
c.5142T= (p.Asp1714=)
c.4935T= (p.Asp1645=)
c.1638T= (p.Asp546=)
c.5139T= (p.Asp1713=)
c.1463T=
c.1650T= (p.Asp550=)
c.*4859T= (n.*4859T=)
c.1389T= (p.Asp463=)
c.6T= (p.Asp2=)
c.549T= (p.Asp183=)
c.-98-13760T= (n.-98-13760T=)
n.5212T=
n.5253T=
17g.43063950A>CCA10591371BRCA1c.5073T>G (p.Asp1691Glu)
c.5076T>G (p.Asp1692Glu)
c.4950T>G (p.Asp1650Glu)
c.5070T>G (p.Asp1690Glu)
c.4998T>G (p.Asp1666Glu)
c.1764T>G (p.Asp588Glu)
c.1626T>G (p.Asp542Glu)
c.4188T>G (p.Asp1396Glu)
c.4953T>G (p.Asp1651Glu)
c.5142T>G (p.Asp1714Glu)
c.4935T>G (p.Asp1645Glu)
c.1638T>G (p.Asp546Glu)
c.5139T>G (p.Asp1713Glu)
c.1463T>G
c.1650T>G (p.Asp550Glu)
c.*4859T>G (n.*4859T>G)
c.1389T>G (p.Asp463Glu)
c.6T>G (p.Asp2Glu)
c.549T>G (p.Asp183Glu)
c.-98-13760T>G (n.-98-13760T>G)
n.5212T>G
n.5253T>G
ClinVar dbSNP
17g.43063950A>GCA500146219BRCA1c.5073T>C (p.Asp1691=)
c.5076T>C (p.Asp1692=)
c.4950T>C (p.Asp1650=)
c.5070T>C (p.Asp1690=)
c.4998T>C (p.Asp1666=)
c.1764T>C (p.Asp588=)
c.1626T>C (p.Asp542=)
c.4188T>C (p.Asp1396=)
c.4953T>C (p.Asp1651=)
c.5142T>C (p.Asp1714=)
c.4935T>C (p.Asp1645=)
c.1638T>C (p.Asp546=)
c.5139T>C (p.Asp1713=)
c.1463T>C
c.1650T>C (p.Asp550=)
c.*4859T>C (n.*4859T>C)
c.1389T>C (p.Asp463=)
c.6T>C (p.Asp2=)
c.549T>C (p.Asp183=)
c.-98-13760T>C (n.-98-13760T>C)
n.5212T>C
n.5253T>C
ClinVar dbSNP
17g.43063950A>TCA10591372BRCA1c.5073T>A (p.Asp1691Glu)
c.5076T>A (p.Asp1692Glu)
c.4950T>A (p.Asp1650Glu)
c.5070T>A (p.Asp1690Glu)
c.4998T>A (p.Asp1666Glu)
c.1764T>A (p.Asp588Glu)
c.1626T>A (p.Asp542Glu)
c.4188T>A (p.Asp1396Glu)
c.4953T>A (p.Asp1651Glu)
c.5142T>A (p.Asp1714Glu)
c.4935T>A (p.Asp1645Glu)
c.1638T>A (p.Asp546Glu)
c.5139T>A (p.Asp1713Glu)
c.1463T>A
c.1650T>A (p.Asp550Glu)
c.*4859T>A (n.*4859T>A)
c.1389T>A (p.Asp463Glu)
c.6T>A (p.Asp2Glu)
c.549T>A (p.Asp183Glu)
c.-98-13760T>A (n.-98-13760T>A)
n.5212T>A
n.5253T>A
ClinVar dbSNP
17g.43063951T>ACA003216BRCA1c.5072A>T (p.Asp1691Val)
c.5075A>T (p.Asp1692Val)
c.4949A>T (p.Asp1650Val)
c.5069A>T (p.Asp1690Val)
c.4997A>T (p.Asp1666Val)
c.1763A>T (p.Asp588Val)
c.1625A>T (p.Asp542Val)
c.4187A>T (p.Asp1396Val)
c.4952A>T (p.Asp1651Val)
c.5141A>T (p.Asp1714Val)
c.4934A>T (p.Asp1645Val)
c.1637A>T (p.Asp546Val)
c.5138A>T (p.Asp1713Val)
c.1462A>T
c.1649A>T (p.Asp550Val)
c.*4858A>T (n.*4858A>T)
c.1388A>T (p.Asp463Val)
c.5A>T (p.Asp2Val)
c.548A>T (p.Asp183Val)
c.-98-13761A>T (n.-98-13761A>T)
n.5211A>T
n.5252A>T
ClinVar dbSNP
17g.43063951T>CCA10591373BRCA1c.5072A>G (p.Asp1691Gly)
c.5075A>G (p.Asp1692Gly)
c.4949A>G (p.Asp1650Gly)
c.5069A>G (p.Asp1690Gly)
c.4997A>G (p.Asp1666Gly)
c.1763A>G (p.Asp588Gly)
c.1625A>G (p.Asp542Gly)
c.4187A>G (p.Asp1396Gly)
c.4952A>G (p.Asp1651Gly)
c.5141A>G (p.Asp1714Gly)
c.4934A>G (p.Asp1645Gly)
c.1637A>G (p.Asp546Gly)
c.5138A>G (p.Asp1713Gly)
c.1462A>G
c.1649A>G (p.Asp550Gly)
c.*4858A>G (n.*4858A>G)
c.1388A>G (p.Asp463Gly)
c.5A>G (p.Asp2Gly)
c.548A>G (p.Asp183Gly)
c.-98-13761A>G (n.-98-13761A>G)
n.5211A>G
n.5252A>G
ClinVar dbSNP
17g.43063951T>GCA10586678BRCA1c.5072A>C (p.Asp1691Ala)
c.5075A>C (p.Asp1692Ala)
c.4949A>C (p.Asp1650Ala)
c.5069A>C (p.Asp1690Ala)
c.4997A>C (p.Asp1666Ala)
c.1763A>C (p.Asp588Ala)
c.1625A>C (p.Asp542Ala)
c.4187A>C (p.Asp1396Ala)
c.4952A>C (p.Asp1651Ala)
c.5141A>C (p.Asp1714Ala)
c.4934A>C (p.Asp1645Ala)
c.1637A>C (p.Asp546Ala)
c.5138A>C (p.Asp1713Ala)
c.1462A>C
c.1649A>C (p.Asp550Ala)
c.*4858A>C (n.*4858A>C)
c.1388A>C (p.Asp463Ala)
c.5A>C (p.Asp2Ala)
c.548A>C (p.Asp183Ala)
c.-98-13761A>C (n.-98-13761A>C)
n.5211A>C
n.5252A>C
ClinVar dbSNP
17g.43063951T=CA2260769587BRCA1c.5072A= (p.Asp1691=)
c.5075A= (p.Asp1692=)
c.4949A= (p.Asp1650=)
c.5069A= (p.Asp1690=)
c.4997A= (p.Asp1666=)
c.1763A= (p.Asp588=)
c.1625A= (p.Asp542=)
c.4187A= (p.Asp1396=)
c.4952A= (p.Asp1651=)
c.5141A= (p.Asp1714=)
c.4934A= (p.Asp1645=)
c.1637A= (p.Asp546=)
c.5138A= (p.Asp1713=)
c.1462A=
c.1649A= (p.Asp550=)
c.*4858A= (n.*4858A=)
c.1388A= (p.Asp463=)
c.5A= (p.Asp2=)
c.548A= (p.Asp183=)
c.-98-13761A= (n.-98-13761A=)
n.5211A=
n.5252A=
17g.43063955_43071241delCA10575957BRCA1c.4674_5072del
c.4677_5075del
c.4551_4949del
c.4671_5069del
c.4599_4997del
c.1365_1763del
c.1227_1625del
c.3789_4187del
c.4554_4952del
c.4743_5141del
c.4536_4934del
c.1239_1637del
c.4740_5138del
c.1064_1462del
c.1251_1649del
c.*4460_*4858del
c.990_1388del
c.5-7286_5del
c.150_548del
c.-98-21047_-98-13761del (n.-98-21047_-98-13761del)
n.4813_5211del
n.4854_5252del
ClinVar
17g.43063952delCA2499224382BRCA1c.5072-1del (n.5072-1del)
c.5075-1del (n.5075-1del)
c.4949-1del (n.4949-1del)
c.5069-1del (n.5069-1del)
c.4997-1del (n.4997-1del)
c.1763-1del (n.1763-1del)
c.1625-1del (n.1625-1del)
c.4187-1del (n.4187-1del)
c.4952-1del (n.4952-1del)
c.5141-1del (n.5141-1del)
c.4934-1del (n.4934-1del)
c.1637-1del (n.1637-1del)
c.5138-1del (n.5138-1del)
c.1462-1del
c.1649-1del (n.1649-1del)
c.*4858-1del (n.*4858-1del)
c.1388-1del (n.1388-1del)
c.5-1del (n.5-1del)
c.548-1del (n.548-1del)
c.-98-13762del (n.-98-13762del)
n.5211-1del
n.5252-1del
17g.43063952C>ACA003206BRCA1c.5072-1G>T (n.5072-1G>T)
c.5075-1G>T (n.5075-1G>T)
c.4949-1G>T (n.4949-1G>T)
c.5069-1G>T (n.5069-1G>T)
c.4997-1G>T (n.4997-1G>T)
c.1763-1G>T (n.1763-1G>T)
c.1625-1G>T (n.1625-1G>T)
c.4187-1G>T (n.4187-1G>T)
c.4952-1G>T (n.4952-1G>T)
c.5141-1G>T (n.5141-1G>T)
c.4934-1G>T (n.4934-1G>T)
c.1637-1G>T (n.1637-1G>T)
c.5138-1G>T (n.5138-1G>T)
c.1462-1G>T
c.1649-1G>T (n.1649-1G>T)
c.*4858-1G>T (n.*4858-1G>T)
c.1388-1G>T (n.1388-1G>T)
c.5-1G>T (n.5-1G>T)
c.548-1G>T (n.548-1G>T)
c.-98-13762G>T (n.-98-13762G>T)
n.5211-1G>T
n.5252-1G>T
ClinVar dbSNP
17g.43063952C=CA2260769588BRCA1c.5072-1G= (n.5072-1G=)
c.5075-1G= (n.5075-1G=)
c.4949-1G= (n.4949-1G=)
c.5069-1G= (n.5069-1G=)
c.4997-1G= (n.4997-1G=)
c.1763-1G= (n.1763-1G=)
c.1625-1G= (n.1625-1G=)
c.4187-1G= (n.4187-1G=)
c.4952-1G= (n.4952-1G=)
c.5141-1G= (n.5141-1G=)
c.4934-1G= (n.4934-1G=)
c.1637-1G= (n.1637-1G=)
c.5138-1G= (n.5138-1G=)
c.1462-1G=
c.1649-1G= (n.1649-1G=)
c.*4858-1G= (n.*4858-1G=)
c.1388-1G= (n.1388-1G=)
c.5-1G= (n.5-1G=)
c.548-1G= (n.548-1G=)
c.-98-13762G= (n.-98-13762G=)
n.5211-1G=
n.5252-1G=
17g.43063952C>GCA003205BRCA1c.5072-1G>C (n.5072-1G>C)
c.5075-1G>C (n.5075-1G>C)
c.4949-1G>C (n.4949-1G>C)
c.5069-1G>C (n.5069-1G>C)
c.4997-1G>C (n.4997-1G>C)
c.1763-1G>C (n.1763-1G>C)
c.1625-1G>C (n.1625-1G>C)
c.4187-1G>C (n.4187-1G>C)
c.4952-1G>C (n.4952-1G>C)
c.5141-1G>C (n.5141-1G>C)
c.4934-1G>C (n.4934-1G>C)
c.1637-1G>C (n.1637-1G>C)
c.5138-1G>C (n.5138-1G>C)
c.1462-1G>C
c.1649-1G>C (n.1649-1G>C)
c.*4858-1G>C (n.*4858-1G>C)
c.1388-1G>C (n.1388-1G>C)
c.5-1G>C (n.5-1G>C)
c.548-1G>C (n.548-1G>C)
c.-98-13762G>C (n.-98-13762G>C)
n.5211-1G>C
n.5252-1G>C
ClinVar dbSNP

Number of alleles fetched