Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43059235_43065439dup | CA2697559969 | BRCA1 | c.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 | |
17 | g.43060764_43066736dup | CA2580612613 | BRCA1 | c.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 | |
17 | g.43061818_43066643del | CA16043347 | BRCA1 | c.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 |
17 | g.43063332_43064342del | CA2499224373 | BRCA1 | c.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 |
17 | g.43063335_43063953del | CA658655490 | BRCA1 | c.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 |
17 | g.43063357_43067682dup | CA1139532339 | BRCA1 | c.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 | |
17 | g.43063872_43069026del | CA2499224378 | BRCA1 | c.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 |
17 | g.43063873_43063951delinsCAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCAT | CA2260769484 | BRCA1 | c.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 | |
17 | g.43063874_43063951del | CA645373156 | BRCA1 | c.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 |
17 | g.43063942_43063947del | CA2697559913 | BRCA1 | c.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 | |
17 | g.43063945_43063946delinsTC | CA2260769578 | BRCA1 | c.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 | |
17 | g.43063945_43063948delinsTCAG | CA2260769579 | BRCA1 | c.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 | |
17 | g.43063945_43063949delinsTCAGC | CA2260769576 | BRCA1 | c.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 | |
17 | g.43063946del | CA658656679 | BRCA1 | c.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 |
17 | g.43063946C>A | CA003221 | BRCA1 | c.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 |
17 | g.43063946C= | CA2260769580 | BRCA1 | c.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= | |
17 | g.43063946C>G | CA10591363 | BRCA1 | c.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 |
17 | g.43063946C>T | CA10591364 | BRCA1 | c.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 |
17 | g.43063946_43063949delinsGCAGAATCAA | CA10602579 | BRCA1 | c.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 |
17 | g.43063946_43063949delinsGCAGAATGAA | CA003218 | BRCA1 | c.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 |
17 | g.43063948_43063950del | CA003219 | BRCA1 | c.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 |
17 | g.43063947A= | CA2260769582 | BRCA1 | c.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= | |
17 | g.43063947A>C | CA500146216 | BRCA1 | c.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 |
17 | g.43063947A>G | CA500146217 | BRCA1 | c.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 |
17 | g.43063947A>T | CA500146218 | BRCA1 | c.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 |
17 | g.43063947_43063951delinsAGCAT | CA2260769581 | BRCA1 | c.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 | |
17 | g.43063948G>A | CA10591365 | BRCA1 | c.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 |
17 | g.43063948G>C | CA10591366 | BRCA1 | c.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 |
17 | g.43063948G= | CA2260769583 | BRCA1 | c.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= | |
17 | g.43063948G>T | CA10591367 | BRCA1 | c.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 |
17 | g.43063948_43063951del | CA003211 | BRCA1 | c.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 |
17 | g.43063949C>A | CA10591368 | BRCA1 | c.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 |
17 | g.43063949C= | CA2260769585 | BRCA1 | c.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= | |
17 | g.43063949C>G | CA10591369 | BRCA1 | c.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 |
17 | g.43063949C>T | CA10591370 | BRCA1 | c.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 |
17 | g.43063949_43063950delinsCA | CA2260769584 | BRCA1 | c.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 | |
17 | g.43063950del | CA10589620 | BRCA1 | c.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 |
17 | g.43063950A= | CA2260769586 | BRCA1 | c.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= | |
17 | g.43063950A>C | CA10591371 | BRCA1 | c.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 |
17 | g.43063950A>G | CA500146219 | BRCA1 | c.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 |
17 | g.43063950A>T | CA10591372 | BRCA1 | c.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 |
17 | g.43063951T>A | CA003216 | BRCA1 | c.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 |
17 | g.43063951T>C | CA10591373 | BRCA1 | c.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 |
17 | g.43063951T>G | CA10586678 | BRCA1 | c.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 |
17 | g.43063951T= | CA2260769587 | BRCA1 | c.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= | |
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 | ClinVar |
17 | g.43063952del | CA2499224382 | BRCA1 | c.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 | |
17 | g.43063952C>A | CA003206 | BRCA1 | c.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 |
17 | g.43063952C= | CA2260769588 | BRCA1 | c.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= | |
17 | g.43063952C>G | CA003205 | BRCA1 | c.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 |