Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43041660_43046086delinsCTGTGCA2580093779 ClinVar
17g.43041662_43046087delinsTGCA16043342 ClinVar
17g.43044295_43045802delCA915950020 ClinVar
17g.43044924_43051621delCA2580093785BRCA1c.5275-502_*756del
c.5278-502_*756del
c.5152-502_*756del
c.5272-502_*756del
c.5200-502_*756del
c.1966-502_*756del
c.1828-502_*756del
c.4390-502_*756del
c.5155-502_*756del
c.5137-502_*756del
c.5341-502_*756del
c.1852-502_*756del
c.1966-502_*862del
n.5414-502_6484del
n.5455-502_6525del
 ClinVar
17g.43045093_43046211delCA2697559962BRCA1c.5465-364_*630del
c.5468-364_*630del
c.5342-364_*630del
c.5462-364_*630del
c.5390-364_*630del
c.2156-364_*630del
c.2018-364_*630del
c.4580-364_*630del
c.5345-364_*630del
c.5327-364_*630del
n.1351-364_2105del
n.832-364_1586del
c.5531-364_*630del
c.2042-364_*630del
c.2082-364_*736del
n.5604-364_6358del
n.5645-364_6399del
 ClinVar
17g.43045329_43045805delCA2581463415BRCA1c.5465_*352del
c.5468_*352del
c.5342_*352del
c.5462_*352del
c.5390_*352del
c.2156_*352del
c.2018_*352del
c.4580_*352del
c.5345_*352del
c.5534_*352del
c.5327_*352del
n.1351_1827del
n.832_1308del
c.5531_*352del
c.1855_2331del
c.2042_*352del
c.2082_*458del
n.5604_6080del
n.5645_6121del
17g.43045658_43051137delCA915940399BRCA1c.5275-20_*20del
c.5278-20_*20del
c.5152-20_*20del
c.5272-20_*20del
c.5200-20_*20del
c.1966-20_*20del
c.1828-20_*20del
c.4390-20_*20del
c.5155-20_*20del
c.5344-20_*20del
c.5137-20_*20del
c.1840-20_*20del
c.5341-20_*20del
c.1665-20_1999del
c.1852-20_*20del
c.1966-20_*126del
c.208-20_*20del
c.751-20_*20del
c.-98-947_*20del
n.5414-20_5748del
n.5455-20_5789del
17g.43045671_43045690delCA2733916003BRCA1c.5584_*14del (n.[c.5584_*14del;Tyr1862ArgfsTer10])
c.5587_*14del (n.[c.5587_*14del;Tyr1863ArgfsTer10])
c.5461_*14del (n.[c.5461_*14del;Tyr1821ArgfsTer10])
c.5581_*14del (n.[c.5581_*14del;Tyr1861ArgfsTer10])
c.5509_*14del (n.[c.5509_*14del;Tyr1837ArgfsTer10])
c.2275_*14del (n.[c.2275_*14del;Tyr759ArgfsTer10])
c.2137_*14del (n.[c.2137_*14del;Tyr713ArgfsTer10])
c.4699_*14del (n.[c.4699_*14del;Tyr1567ArgfsTer10])
c.5464_*14del (n.[c.5464_*14del;Tyr1822ArgfsTer10])
c.5653_*14del (n.[c.5653_*14del;Tyr1885ArgfsTer10])
c.5446_*14del (n.[c.5446_*14del;Tyr1816ArgfsTer10])
c.2149_*14del (n.[c.2149_*14del;Tyr717ArgfsTer10])
n.1470_1489del
n.951_970del
c.5650_*14del (n.[c.5650_*14del;Tyr1884ArgfsTer10])
c.1974_1993del
c.2161_*14del (n.[c.2161_*14del;Tyr721ArgfsTer10])
c.*101_*120del (n.*101_*120del)
c.517_*14del (n.[c.517_*14del;Tyr173ArgfsTer10])
c.1060_*14del (n.[c.1060_*14del;Tyr354ArgfsTer10])
c.286_*14del (n.[c.286_*14del;Tyr96ArgfsTer10])
n.5723_5742del
n.5764_5783del
 dbSNP
17g.43045665T>CCA658684034BRCA1c.*13A>G (n.*13A>G)
n.1488A>G
n.969A>G
c.1992A>G
c.*119A>G (n.*119A>G)
n.5741A>G
n.5782A>G
 ClinVar dbSNP
17g.43045665T>GCA053298BRCA1c.*13A>C (n.*13A>C)
n.1488A>C
n.969A>C
c.1992A>C
c.*119A>C (n.*119A>C)
n.5741A>C
n.5782A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045665T=CA2260760995BRCA1c.*13A= (n.*13A=)
n.1488A=
n.969A=
c.1992A=
c.*119A= (n.*119A=)
n.5741A=
n.5782A=
17g.43045666G>ACA2733916013BRCA1c.*12C>T (n.*12C>T)
n.1487C>T
n.968C>T
c.1991C>T
c.*118C>T (n.*118C>T)
n.5740C>T
n.5781C>T
 dbSNP
17g.43045666G>CCA2733916011BRCA1c.*12C>G (n.*12C>G)
n.1487C>G
n.968C>G
c.1991C>G
c.*118C>G (n.*118C>G)
n.5740C>G
n.5781C>G
 dbSNP
17g.43045666G>TCA2576121529BRCA1c.*12C>A (n.*12C>A)
n.1487C>A
n.968C>A
c.1991C>A
c.*118C>A (n.*118C>A)
n.5740C>A
n.5781C>A
17g.43045667G>ACA2733916023BRCA1c.*11C>T (n.*11C>T)
n.1486C>T
n.967C>T
c.1990C>T
c.*117C>T (n.*117C>T)
n.5739C>T
n.5780C>T
 dbSNP
17g.43045667G>CCA2733916022BRCA1c.*11C>G (n.*11C>G)
n.1486C>G
n.967C>G
c.1990C>G
c.*117C>G (n.*117C>G)
n.5739C>G
n.5780C>G
 dbSNP
17g.43045667G>TCA2638036263BRCA1c.*11C>A (n.*11C>A)
n.1486C>A
n.967C>A
c.1990C>A
c.*117C>A (n.*117C>A)
n.5739C>A
n.5780C>A
 dbSNP gnomAD v4
17g.43045668C>TCA2638036264BRCA1c.*10G>A (n.*10G>A)
n.1485G>A
n.966G>A
c.1989G>A
c.*116G>A (n.*116G>A)
n.5738G>A
n.5779G>A
 gnomAD v4
17g.43045669_43045682delCA2499306739BRCA1c.5585_*9del (n.[c.5585_*9del;Tyr1862CysfsTer12])
c.5588_*9del (n.[c.5588_*9del;Tyr1863CysfsTer12])
c.5462_*9del (n.[c.5462_*9del;Tyr1821CysfsTer12])
c.5582_*9del (n.[c.5582_*9del;Tyr1861CysfsTer12])
c.5510_*9del (n.[c.5510_*9del;Tyr1837CysfsTer12])
c.2276_*9del (n.[c.2276_*9del;Tyr759CysfsTer12])
c.2138_*9del (n.[c.2138_*9del;Tyr713CysfsTer12])
c.4700_*9del (n.[c.4700_*9del;Tyr1567CysfsTer12])
c.5465_*9del (n.[c.5465_*9del;Tyr1822CysfsTer12])
c.5654_*9del (n.[c.5654_*9del;Tyr1885CysfsTer12])
c.5447_*9del (n.[c.5447_*9del;Tyr1816CysfsTer12])
c.2150_*9del (n.[c.2150_*9del;Tyr717CysfsTer12])
n.1471_1484del
n.952_965del
c.5651_*9del (n.[c.5651_*9del;Tyr1884CysfsTer12])
c.1975_1988del
c.2162_*9del (n.[c.2162_*9del;Tyr721CysfsTer12])
c.*102_*115del (n.*102_*115del)
c.518_*9del (n.[c.518_*9del;Tyr173CysfsTer12])
c.1061_*9del (n.[c.1061_*9del;Tyr354CysfsTer12])
c.287_*9del (n.[c.287_*9del;Tyr96CysfsTer12])
n.5724_5737del
n.5765_5778del
17g.43045670G>ACA2825002508BRCA1c.*8C>T (n.*8C>T)
n.1483C>T
n.964C>T
c.1987C>T
c.*114C>T (n.*114C>T)
n.5736C>T
n.5777C>T
 ClinVar
17g.43045670G>CCA2695202199BRCA1c.*8C>G (n.*8C>G)
n.1483C>G
n.964C>G
c.1987C>G
c.*114C>G (n.*114C>G)
n.5736C>G
n.5777C>G
17g.43045671G>ACA2733692293BRCA1c.*7C>T (n.*7C>T)
n.1482C>T
n.963C>T
c.1986C>T
c.*113C>T (n.*113C>T)
n.5735C>T
n.5776C>T
 dbSNP
17g.43045671G>CCA913187699BRCA1c.*7C>G (n.*7C>G)
n.1482C>G
n.963C>G
c.1986C>G
c.*113C>G (n.*113C>G)
n.5735C>G
n.5776C>G
 ClinVar dbSNP
17g.43045671G=CA2260760996BRCA1c.*7C= (n.*7C=)
n.1482C=
n.963C=
c.1986C=
c.*113C= (n.*113C=)
n.5735C=
n.5776C=
17g.43045671G>TCA2733692294BRCA1c.*7C>A (n.*7C>A)
n.1482C>A
n.963C>A
c.1986C>A
c.*113C>A (n.*113C>A)
n.5735C>A
n.5776C>A
 dbSNP
17g.43045672C>GCA2733916036BRCA1c.*6G>C (n.*6G>C)
n.1481G>C
n.962G>C
c.1985G>C
c.*112G>C (n.*112G>C)
n.5734G>C
n.5775G>C
 dbSNP
17g.43045672C>TCA2733916027BRCA1c.*6G>A (n.*6G>A)
n.1481G>A
n.962G>A
c.1985G>A
c.*112G>A (n.*112G>A)
n.5734G>A
n.5775G>A
 dbSNP
17g.43045673T>ACA2733916053BRCA1c.*5A>T (n.*5A>T)
n.1480A>T
n.961A>T
c.1984A>T
c.*111A>T (n.*111A>T)
n.5733A>T
n.5774A>T
 dbSNP
17g.43045673T>CCA2733916056BRCA1c.*5A>G (n.*5A>G)
n.1480A>G
n.961A>G
c.1984A>G
c.*111A>G (n.*111A>G)
n.5733A>G
n.5774A>G
 dbSNP
17g.43045676_43045803delCA2499224337BRCA1c.5467_*5del
c.5470_*5del
c.5344_*5del
c.5464_*5del
c.5392_*5del
c.2158_*5del
c.2020_*5del
c.4582_*5del
c.5347_*5del
c.5536_*5del
c.5329_*5del
c.2032_*5del
n.1353_1480del
n.834_961del
c.5533_*5del
c.1857_1984del
c.2044_*5del
c.2084_*111del
c.400_*5del
c.943_*5del
c.169_*5del
n.5606_5733del
n.5647_5774del
 ClinVar dbSNP
17g.43045674G>ACA16607595BRCA1c.*4C>T (n.*4C>T)
n.1479C>T
n.960C>T
c.1983C>T
c.*110C>T (n.*110C>T)
n.5732C>T
n.5773C>T
 ClinVar dbSNP gnomAD v4
17g.43045674G>CCA2733658905BRCA1c.*4C>G (n.*4C>G)
n.1479C>G
n.960C>G
c.1983C>G
c.*110C>G (n.*110C>G)
n.5732C>G
n.5773C>G
 dbSNP
17g.43045674G=CA2260760997BRCA1c.*4C= (n.*4C=)
n.1479C=
n.960C=
c.1983C=
c.*110C= (n.*110C=)
n.5732C=
n.5773C=
17g.43045674G>TCA2733658906BRCA1c.*4C>A (n.*4C>A)
n.1479C>A
n.960C>A
c.1983C>A
c.*110C>A (n.*110C>A)
n.5732C>A
n.5773C>A
 dbSNP
17g.43045675C>ACA16608428BRCA1c.*3G>T (n.*3G>T)
n.1478G>T
n.959G>T
c.1982G>T
c.*109G>T (n.*109G>T)
n.5731G>T
n.5772G>T
 ClinVar dbSNP
17g.43045675C=CA2260760998BRCA1c.*3G= (n.*3G=)
n.1478G=
n.959G=
c.1982G=
c.*109G= (n.*109G=)
n.5731G=
n.5772G=
17g.43045675C>GCA2733658908BRCA1c.*3G>C (n.*3G>C)
n.1478G>C
n.959G>C
c.1982G>C
c.*109G>C (n.*109G>C)
n.5731G>C
n.5772G>C
 dbSNP
17g.43045675C>TCA983865027BRCA1c.*3G>A (n.*3G>A)
n.1478G>A
n.959G>A
c.1982G>A
c.*109G>A (n.*109G>A)
n.5731G>A
n.5772G>A
 dbSNP gnomAD v3 gnomAD v4
17g.43045676A>GCA2733916064BRCA1c.*2T>C (n.*2T>C)
n.1477T>C
n.958T>C
c.1981T>C
c.*108T>C (n.*108T>C)
n.5730T>C
n.5771T>C
 dbSNP
17g.43045676A>TCA2638036265BRCA1c.*2T>A (n.*2T>A)
n.1477T>A
n.958T>A
c.1981T>A
c.*108T>A (n.*108T>A)
n.5730T>A
n.5771T>A
 dbSNP gnomAD v4
17g.43045676_43045691delCA2580093786BRCA1c.5576_*2del (n.[c.5576_*2del;His1859ArgfsTer?])
c.5579_*2del (n.[c.5579_*2del;His1860ArgfsTer?])
c.5453_*2del (n.[c.5453_*2del;His1818ArgfsTer?])
c.5573_*2del (n.[c.5573_*2del;His1858ArgfsTer?])
c.5501_*2del (n.[c.5501_*2del;His1834ArgfsTer?])
c.2267_*2del (n.[c.2267_*2del;His756ArgfsTer?])
c.2129_*2del (n.[c.2129_*2del;His710ArgfsTer?])
c.4691_*2del (n.[c.4691_*2del;His1564ArgfsTer?])
c.5456_*2del (n.[c.5456_*2del;His1819ArgfsTer?])
c.5645_*2del (n.[c.5645_*2del;His1882ArgfsTer?])
c.5438_*2del (n.[c.5438_*2del;His1813ArgfsTer?])
c.2141_*2del (n.[c.2141_*2del;His714ArgfsTer?])
n.1462_1477del
n.943_958del
c.5642_*2del (n.[c.5642_*2del;His1881ArgfsTer?])
c.1966_1981del
c.2153_*2del (n.[c.2153_*2del;His718ArgfsTer?])
c.*93_*108del (n.*93_*108del)
c.509_*2del (n.[c.509_*2del;His170ArgfsTer?])
c.1052_*2del (n.[c.1052_*2del;His351ArgfsTer?])
c.278_*2del (n.[c.278_*2del;His93ArgfsTer?])
n.5715_5730del
n.5756_5771del
 ClinVar
17g.43045676_43045993delCA2499224338BRCA1c.5465-191_*2del
c.5468-191_*2del
c.5342-191_*2del
c.5462-191_*2del
c.5390-191_*2del
c.2156-191_*2del
c.2018-191_*2del
c.4580-191_*2del
c.5345-191_*2del
c.5534-191_*2del
c.5327-191_*2del
c.2030-191_*2del
n.1351-191_1477del
n.832-191_958del
c.5531-191_*2del
c.1855-191_1981del
c.2042-191_*2del
c.2082-191_*108del
c.398-191_*2del
c.941-191_*2del
c.167-191_*2del
n.5604-191_5730del
n.5645-191_5771del
 ClinVar dbSNP
17g.43045677G>ACA001333BRCA1c.*1C>T (n.*1C>T)
n.1476C>T
n.957C>T
c.1980C>T
c.*107C>T (n.*107C>T)
n.5729C>T
n.5770C>T
 ClinVar dbSNP
17g.43045677G>CCA2733646044BRCA1c.*1C>G (n.*1C>G)
n.1476C>G
n.957C>G
c.1980C>G
c.*107C>G (n.*107C>G)
n.5729C>G
n.5770C>G
 dbSNP
17g.43045677G=CA2260760999BRCA1c.*1C= (n.*1C=)
n.1476C=
n.957C=
c.1980C=
c.*107C= (n.*107C=)
n.5729C=
n.5770C=
17g.43045678T>ACA10590138BRCA1c.5589A>T (p.Ter1863Cys)
c.5592A>T (p.Ter1864Cys)
c.5466A>T (p.Ter1822Cys)
c.5586A>T (p.Ter1862Cys)
c.5514A>T (p.Ter1838Cys)
c.2280A>T (p.Ter760Cys)
c.2142A>T (p.Ter714Cys)
c.4704A>T (p.Ter1568Cys)
c.5469A>T (p.Ter1823Cys)
c.5658A>T (p.Ter1886Cys)
c.5451A>T (p.Ter1817Cys)
c.2154A>T (p.Ter718Cys)
n.1475A>T
n.956A>T
c.5655A>T (p.Ter1885Cys)
c.1979A>T
c.2166A>T (p.Ter722Cys)
c.*5375A>T (n.*5375A>T)
c.*106A>T (n.*106A>T)
c.522A>T (p.Ter174Cys)
c.1065A>T (p.Ter355Cys)
c.291A>T (p.Ter97Cys)
n.5728A>T
n.5769A>T
 dbSNP
17g.43045678T>CCA10590139BRCA1c.5589A>G (p.Ter1863Trp)
c.5592A>G (p.Ter1864Trp)
c.5466A>G (p.Ter1822Trp)
c.5586A>G (p.Ter1862Trp)
c.5514A>G (p.Ter1838Trp)
c.2280A>G (p.Ter760Trp)
c.2142A>G (p.Ter714Trp)
c.4704A>G (p.Ter1568Trp)
c.5469A>G (p.Ter1823Trp)
c.5658A>G (p.Ter1886Trp)
c.5451A>G (p.Ter1817Trp)
c.2154A>G (p.Ter718Trp)
n.1475A>G
n.956A>G
c.5655A>G (p.Ter1885Trp)
c.1979A>G
c.2166A>G (p.Ter722Trp)
c.*5375A>G (n.*5375A>G)
c.*106A>G (n.*106A>G)
c.522A>G (p.Ter174Trp)
c.1065A>G (p.Ter355Trp)
c.291A>G (p.Ter97Trp)
n.5728A>G
n.5769A>G
 ClinVar dbSNP
17g.43045678T>GCA10590140BRCA1c.5589A>C (p.Ter1863Cys)
c.5592A>C (p.Ter1864Cys)
c.5466A>C (p.Ter1822Cys)
c.5586A>C (p.Ter1862Cys)
c.5514A>C (p.Ter1838Cys)
c.2280A>C (p.Ter760Cys)
c.2142A>C (p.Ter714Cys)
c.4704A>C (p.Ter1568Cys)
c.5469A>C (p.Ter1823Cys)
c.5658A>C (p.Ter1886Cys)
c.5451A>C (p.Ter1817Cys)
c.2154A>C (p.Ter718Cys)
n.1475A>C
n.956A>C
c.5655A>C (p.Ter1885Cys)
c.1979A>C
c.2166A>C (p.Ter722Cys)
c.*5375A>C (n.*5375A>C)
c.*106A>C (n.*106A>C)
c.522A>C (p.Ter174Cys)
c.1065A>C (p.Ter355Cys)
c.291A>C (p.Ter97Cys)
n.5728A>C
n.5769A>C
 dbSNP
17g.43045678_43047703delCA2581463416BRCA1c.5404_5589del
c.5407_5592del
c.5281_5466del
c.5401_5586del
c.5329_5514del
c.2095_2280del
c.1957_2142del
c.4519_4704del
c.5284_5469del
c.5473_5658del
c.5266_5451del
c.1969_2154del
n.1290_1475del
n.771_956del
c.5470_5655del
c.1794_1979del
c.1981_2166del
c.*5190_*5375del
c.2021_*106del
c.337_522del
c.880_1065del
c.106_291del
n.5543_5728del
n.5584_5769del
17g.43045678_43051117delCA2581463401BRCA1c.5275_5589del
c.5278_5592del
c.5152_5466del
c.5272_5586del
c.5200_5514del
c.1966_2280del
c.1828_2142del
c.4390_4704del
c.5155_5469del
c.5344_5658del
c.5137_5451del
c.1840_2154del
c.5341_5655del
c.1665_1979del
c.1852_2166del
c.*5061_*5375del
c.1966_*106del
c.208_522del
c.751_1065del
c.-98-927_291del
n.5414_5728del
n.5455_5769del
17g.43045679C>ACA10590141BRCA1c.5588G>T (p.Ter1863Leu)
c.5591G>T (p.Ter1864Leu)
c.5465G>T (p.Ter1822Leu)
c.5585G>T (p.Ter1862Leu)
c.5513G>T (p.Ter1838Leu)
c.2279G>T (p.Ter760Leu)
c.2141G>T (p.Ter714Leu)
c.4703G>T (p.Ter1568Leu)
c.5468G>T (p.Ter1823Leu)
c.5657G>T (p.Ter1886Leu)
c.5450G>T (p.Ter1817Leu)
c.2153G>T (p.Ter718Leu)
n.1474G>T
n.955G>T
c.5654G>T (p.Ter1885Leu)
c.1978G>T
c.2165G>T (p.Ter722Leu)
c.*5374G>T (n.*5374G>T)
c.*105G>T (n.*105G>T)
c.521G>T (p.Ter174Leu)
c.1064G>T (p.Ter355Leu)
c.290G>T (p.Ter97Leu)
n.5727G>T
n.5768G>T
 dbSNP
17g.43045679C=CA2260761000BRCA1c.5588G= (p.Ter1863=)
c.5591G= (p.Ter1864=)
c.5465G= (p.Ter1822=)
c.5585G= (p.Ter1862=)
c.5513G= (p.Ter1838=)
c.2279G= (p.Ter760=)
c.2141G= (p.Ter714=)
c.4703G= (p.Ter1568=)
c.5468G= (p.Ter1823=)
c.5657G= (p.Ter1886=)
c.5450G= (p.Ter1817=)
c.2153G= (p.Ter718=)
n.1474G=
n.955G=
c.5654G= (p.Ter1885=)
c.1978G=
c.2165G= (p.Ter722=)
c.*5374G= (n.*5374G=)
c.*105G= (n.*105G=)
c.521G= (p.Ter174=)
c.1064G= (p.Ter355=)
c.290G= (p.Ter97=)
n.5727G=
n.5768G=
17g.43045679C>GCA10590142BRCA1c.5588G>C (p.Ter1863Ser)
c.5591G>C (p.Ter1864Ser)
c.5465G>C (p.Ter1822Ser)
c.5585G>C (p.Ter1862Ser)
c.5513G>C (p.Ter1838Ser)
c.2279G>C (p.Ter760Ser)
c.2141G>C (p.Ter714Ser)
c.4703G>C (p.Ter1568Ser)
c.5468G>C (p.Ter1823Ser)
c.5657G>C (p.Ter1886Ser)
c.5450G>C (p.Ter1817Ser)
c.2153G>C (p.Ter718Ser)
n.1474G>C
n.955G>C
c.5654G>C (p.Ter1885Ser)
c.1978G>C
c.2165G>C (p.Ter722Ser)
c.*5374G>C (n.*5374G>C)
c.*105G>C (n.*105G>C)
c.521G>C (p.Ter174Ser)
c.1064G>C (p.Ter355Ser)
c.290G>C (p.Ter97Ser)
n.5727G>C
n.5768G>C
 dbSNP
17g.43045679C>TCA500142868BRCA1c.5588G>A (p.Ter1863=)
c.5591G>A (p.Ter1864=)
c.5465G>A (p.Ter1822=)
c.5585G>A (p.Ter1862=)
c.5513G>A (p.Ter1838=)
c.2279G>A (p.Ter760=)
c.2141G>A (p.Ter714=)
c.4703G>A (p.Ter1568=)
c.5468G>A (p.Ter1823=)
c.5657G>A (p.Ter1886=)
c.5450G>A (p.Ter1817=)
c.2153G>A (p.Ter718=)
n.1474G>A
n.955G>A
c.5654G>A (p.Ter1885=)
c.1978G>A
c.2165G>A (p.Ter722=)
c.*5374G>A (n.*5374G>A)
c.*105G>A (n.*105G>A)
c.521G>A (p.Ter174=)
c.1064G>A (p.Ter355=)
c.290G>A (p.Ter97=)
n.5727G>A
n.5768G>A
 ClinVar dbSNP
17g.43045680A>CCA10590143BRCA1c.5587T>G (p.Ter1863Gly)
c.5590T>G (p.Ter1864Gly)
c.5464T>G (p.Ter1822Gly)
c.5584T>G (p.Ter1862Gly)
c.5512T>G (p.Ter1838Gly)
c.2278T>G (p.Ter760Gly)
c.2140T>G (p.Ter714Gly)
c.4702T>G (p.Ter1568Gly)
c.5467T>G (p.Ter1823Gly)
c.5656T>G (p.Ter1886Gly)
c.5449T>G (p.Ter1817Gly)
c.2152T>G (p.Ter718Gly)
n.1473T>G
n.954T>G
c.5653T>G (p.Ter1885Gly)
c.1977T>G
c.2164T>G (p.Ter722Gly)
c.*5373T>G (n.*5373T>G)
c.*104T>G (n.*104T>G)
c.520T>G (p.Ter174Gly)
c.1063T>G (p.Ter355Gly)
c.289T>G (p.Ter97Gly)
n.5726T>G
n.5767T>G
17g.43045680A>GCA10590144BRCA1c.5587T>C (p.Ter1863Arg)
c.5590T>C (p.Ter1864Arg)
c.5464T>C (p.Ter1822Arg)
c.5584T>C (p.Ter1862Arg)
c.5512T>C (p.Ter1838Arg)
c.2278T>C (p.Ter760Arg)
c.2140T>C (p.Ter714Arg)
c.4702T>C (p.Ter1568Arg)
c.5467T>C (p.Ter1823Arg)
c.5656T>C (p.Ter1886Arg)
c.5449T>C (p.Ter1817Arg)
c.2152T>C (p.Ter718Arg)
n.1473T>C
n.954T>C
c.5653T>C (p.Ter1885Arg)
c.1977T>C
c.2164T>C (p.Ter722Arg)
c.*5373T>C (n.*5373T>C)
c.*104T>C (n.*104T>C)
c.520T>C (p.Ter174Arg)
c.1063T>C (p.Ter355Arg)
c.289T>C (p.Ter97Arg)
n.5726T>C
n.5767T>C
17g.43045680A>TCA10590145BRCA1c.5587T>A (p.Ter1863Arg)
c.5590T>A (p.Ter1864Arg)
c.5464T>A (p.Ter1822Arg)
c.5584T>A (p.Ter1862Arg)
c.5512T>A (p.Ter1838Arg)
c.2278T>A (p.Ter760Arg)
c.2140T>A (p.Ter714Arg)
c.4702T>A (p.Ter1568Arg)
c.5467T>A (p.Ter1823Arg)
c.5656T>A (p.Ter1886Arg)
c.5449T>A (p.Ter1817Arg)
c.2152T>A (p.Ter718Arg)
n.1473T>A
n.954T>A
c.5653T>A (p.Ter1885Arg)
c.1977T>A
c.2164T>A (p.Ter722Arg)
c.*5373T>A (n.*5373T>A)
c.*104T>A (n.*104T>A)
c.520T>A (p.Ter174Arg)
c.1063T>A (p.Ter355Arg)
c.289T>A (p.Ter97Arg)
n.5726T>A
n.5767T>A
 ClinVar dbSNP
17g.43045681G>ACA500142869BRCA1c.5586C>T (p.Tyr1862=)
c.5589C>T (p.Tyr1863=)
c.5463C>T (p.Tyr1821=)
c.5583C>T (p.Tyr1861=)
c.5511C>T (p.Tyr1837=)
c.2277C>T (p.Tyr759=)
c.2139C>T (p.Tyr713=)
c.4701C>T (p.Tyr1567=)
c.5466C>T (p.Tyr1822=)
c.5655C>T (p.Tyr1885=)
c.5448C>T (p.Tyr1816=)
c.2151C>T (p.Tyr717=)
n.1472C>T
n.953C>T
c.5652C>T (p.Tyr1884=)
c.1976C>T
c.2163C>T (p.Tyr721=)
c.*5372C>T (n.*5372C>T)
c.*103C>T (n.*103C>T)
c.519C>T (p.Tyr173=)
c.1062C>T (p.Tyr354=)
c.288C>T (p.Tyr96=)
n.5725C>T
n.5766C>T
 dbSNP gnomAD v2
17g.43045681G>CCA10590146BRCA1c.5586C>G (p.Tyr1862Ter)
c.5589C>G (p.Tyr1863Ter)
c.5463C>G (p.Tyr1821Ter)
c.5583C>G (p.Tyr1861Ter)
c.5511C>G (p.Tyr1837Ter)
c.2277C>G (p.Tyr759Ter)
c.2139C>G (p.Tyr713Ter)
c.4701C>G (p.Tyr1567Ter)
c.5466C>G (p.Tyr1822Ter)
c.5655C>G (p.Tyr1885Ter)
c.5448C>G (p.Tyr1816Ter)
c.2151C>G (p.Tyr717Ter)
n.1472C>G
n.953C>G
c.5652C>G (p.Tyr1884Ter)
c.1976C>G
c.2163C>G (p.Tyr721Ter)
c.*5372C>G (n.*5372C>G)
c.*103C>G (n.*103C>G)
c.519C>G (p.Tyr173Ter)
c.1062C>G (p.Tyr354Ter)
c.288C>G (p.Tyr96Ter)
n.5725C>G
n.5766C>G
 dbSNP
17g.43045681G=CA2260761001BRCA1c.5586C= (p.Tyr1862=)
c.5589C= (p.Tyr1863=)
c.5463C= (p.Tyr1821=)
c.5583C= (p.Tyr1861=)
c.5511C= (p.Tyr1837=)
c.2277C= (p.Tyr759=)
c.2139C= (p.Tyr713=)
c.4701C= (p.Tyr1567=)
c.5466C= (p.Tyr1822=)
c.5655C= (p.Tyr1885=)
c.5448C= (p.Tyr1816=)
c.2151C= (p.Tyr717=)
n.1472C=
n.953C=
c.5652C= (p.Tyr1884=)
c.1976C=
c.2163C= (p.Tyr721=)
c.*5372C= (n.*5372C=)
c.*103C= (n.*103C=)
c.519C= (p.Tyr173=)
c.1062C= (p.Tyr354=)
c.288C= (p.Tyr96=)
n.5725C=
n.5766C=
17g.43045681G>TCA10590147BRCA1c.5586C>A (p.Tyr1862Ter)
c.5589C>A (p.Tyr1863Ter)
c.5463C>A (p.Tyr1821Ter)
c.5583C>A (p.Tyr1861Ter)
c.5511C>A (p.Tyr1837Ter)
c.2277C>A (p.Tyr759Ter)
c.2139C>A (p.Tyr713Ter)
c.4701C>A (p.Tyr1567Ter)
c.5466C>A (p.Tyr1822Ter)
c.5655C>A (p.Tyr1885Ter)
c.5448C>A (p.Tyr1816Ter)
c.2151C>A (p.Tyr717Ter)
n.1472C>A
n.953C>A
c.5652C>A (p.Tyr1884Ter)
c.1976C>A
c.2163C>A (p.Tyr721Ter)
c.*5372C>A (n.*5372C>A)
c.*103C>A (n.*103C>A)
c.519C>A (p.Tyr173Ter)
c.1062C>A (p.Tyr354Ter)
c.288C>A (p.Tyr96Ter)
n.5725C>A
n.5766C>A
17g.43045682T>ACA10590148BRCA1c.5585A>T (p.Tyr1862Phe)
c.5588A>T (p.Tyr1863Phe)
c.5462A>T (p.Tyr1821Phe)
c.5582A>T (p.Tyr1861Phe)
c.5510A>T (p.Tyr1837Phe)
c.2276A>T (p.Tyr759Phe)
c.2138A>T (p.Tyr713Phe)
c.4700A>T (p.Tyr1567Phe)
c.5465A>T (p.Tyr1822Phe)
c.5654A>T (p.Tyr1885Phe)
c.5447A>T (p.Tyr1816Phe)
c.2150A>T (p.Tyr717Phe)
n.1471A>T
n.952A>T
c.5651A>T (p.Tyr1884Phe)
c.1975A>T
c.2162A>T (p.Tyr721Phe)
c.*5371A>T (n.*5371A>T)
c.*102A>T (n.*102A>T)
c.518A>T (p.Tyr173Phe)
c.1061A>T (p.Tyr354Phe)
c.287A>T (p.Tyr96Phe)
n.5724A>T
n.5765A>T
 dbSNP
17g.43045682T>CCA10590149BRCA1c.5585A>G (p.Tyr1862Cys)
c.5588A>G (p.Tyr1863Cys)
c.5462A>G (p.Tyr1821Cys)
c.5582A>G (p.Tyr1861Cys)
c.5510A>G (p.Tyr1837Cys)
c.2276A>G (p.Tyr759Cys)
c.2138A>G (p.Tyr713Cys)
c.4700A>G (p.Tyr1567Cys)
c.5465A>G (p.Tyr1822Cys)
c.5654A>G (p.Tyr1885Cys)
c.5447A>G (p.Tyr1816Cys)
c.2150A>G (p.Tyr717Cys)
n.1471A>G
n.952A>G
c.5651A>G (p.Tyr1884Cys)
c.1975A>G
c.2162A>G (p.Tyr721Cys)
c.*5371A>G (n.*5371A>G)
c.*102A>G (n.*102A>G)
c.518A>G (p.Tyr173Cys)
c.1061A>G (p.Tyr354Cys)
c.287A>G (p.Tyr96Cys)
n.5724A>G
n.5765A>G
 ClinVar dbSNP gnomAD v4
17g.43045682T>GCA10590150BRCA1c.5585A>C (p.Tyr1862Ser)
c.5588A>C (p.Tyr1863Ser)
c.5462A>C (p.Tyr1821Ser)
c.5582A>C (p.Tyr1861Ser)
c.5510A>C (p.Tyr1837Ser)
c.2276A>C (p.Tyr759Ser)
c.2138A>C (p.Tyr713Ser)
c.4700A>C (p.Tyr1567Ser)
c.5465A>C (p.Tyr1822Ser)
c.5654A>C (p.Tyr1885Ser)
c.5447A>C (p.Tyr1816Ser)
c.2150A>C (p.Tyr717Ser)
n.1471A>C
n.952A>C
c.5651A>C (p.Tyr1884Ser)
c.1975A>C
c.2162A>C (p.Tyr721Ser)
c.*5371A>C (n.*5371A>C)
c.*102A>C (n.*102A>C)
c.518A>C (p.Tyr173Ser)
c.1061A>C (p.Tyr354Ser)
c.287A>C (p.Tyr96Ser)
n.5724A>C
n.5765A>C
 dbSNP
17g.43045682T=CA2260761002BRCA1c.5585A= (p.Tyr1862=)
c.5588A= (p.Tyr1863=)
c.5462A= (p.Tyr1821=)
c.5582A= (p.Tyr1861=)
c.5510A= (p.Tyr1837=)
c.2276A= (p.Tyr759=)
c.2138A= (p.Tyr713=)
c.4700A= (p.Tyr1567=)
c.5465A= (p.Tyr1822=)
c.5654A= (p.Tyr1885=)
c.5447A= (p.Tyr1816=)
c.2150A= (p.Tyr717=)
n.1471A=
n.952A=
c.5651A= (p.Tyr1884=)
c.1975A=
c.2162A= (p.Tyr721=)
c.*5371A= (n.*5371A=)
c.*102A= (n.*102A=)
c.518A= (p.Tyr173=)
c.1061A= (p.Tyr354=)
c.287A= (p.Tyr96=)
n.5724A=
n.5765A=
17g.43045683A=CA2260761003BRCA1c.5584T= (p.Tyr1862=)
c.5587T= (p.Tyr1863=)
c.5461T= (p.Tyr1821=)
c.5581T= (p.Tyr1861=)
c.5509T= (p.Tyr1837=)
c.2275T= (p.Tyr759=)
c.2137T= (p.Tyr713=)
c.4699T= (p.Tyr1567=)
c.5464T= (p.Tyr1822=)
c.5653T= (p.Tyr1885=)
c.5446T= (p.Tyr1816=)
c.2149T= (p.Tyr717=)
n.1470T=
n.951T=
c.5650T= (p.Tyr1884=)
c.1974T=
c.2161T= (p.Tyr721=)
c.*5370T= (n.*5370T=)
c.*101T= (n.*101T=)
c.517T= (p.Tyr173=)
c.1060T= (p.Tyr354=)
c.286T= (p.Tyr96=)
n.5723T=
n.5764T=
17g.43045683A>CCA10580478BRCA1c.5584T>G (p.Tyr1862Asp)
c.5587T>G (p.Tyr1863Asp)
c.5461T>G (p.Tyr1821Asp)
c.5581T>G (p.Tyr1861Asp)
c.5509T>G (p.Tyr1837Asp)
c.2275T>G (p.Tyr759Asp)
c.2137T>G (p.Tyr713Asp)
c.4699T>G (p.Tyr1567Asp)
c.5464T>G (p.Tyr1822Asp)
c.5653T>G (p.Tyr1885Asp)
c.5446T>G (p.Tyr1816Asp)
c.2149T>G (p.Tyr717Asp)
n.1470T>G
n.951T>G
c.5650T>G (p.Tyr1884Asp)
c.1974T>G
c.2161T>G (p.Tyr721Asp)
c.*5370T>G (n.*5370T>G)
c.*101T>G (n.*101T>G)
c.517T>G (p.Tyr173Asp)
c.1060T>G (p.Tyr354Asp)
c.286T>G (p.Tyr96Asp)
n.5723T>G
n.5764T>G
 ClinVar dbSNP gnomAD v4
17g.43045683A>GCA10590151BRCA1c.5584T>C (p.Tyr1862His)
c.5587T>C (p.Tyr1863His)
c.5461T>C (p.Tyr1821His)
c.5581T>C (p.Tyr1861His)
c.5509T>C (p.Tyr1837His)
c.2275T>C (p.Tyr759His)
c.2137T>C (p.Tyr713His)
c.4699T>C (p.Tyr1567His)
c.5464T>C (p.Tyr1822His)
c.5653T>C (p.Tyr1885His)
c.5446T>C (p.Tyr1816His)
c.2149T>C (p.Tyr717His)
n.1470T>C
n.951T>C
c.5650T>C (p.Tyr1884His)
c.1974T>C
c.2161T>C (p.Tyr721His)
c.*5370T>C (n.*5370T>C)
c.*101T>C (n.*101T>C)
c.517T>C (p.Tyr173His)
c.1060T>C (p.Tyr354His)
c.286T>C (p.Tyr96His)
n.5723T>C
n.5764T>C
 dbSNP gnomAD v4
17g.43045683A>TCA055432BRCA1c.5584T>A (p.Tyr1862Asn)
c.5587T>A (p.Tyr1863Asn)
c.5461T>A (p.Tyr1821Asn)
c.5581T>A (p.Tyr1861Asn)
c.5509T>A (p.Tyr1837Asn)
c.2275T>A (p.Tyr759Asn)
c.2137T>A (p.Tyr713Asn)
c.4699T>A (p.Tyr1567Asn)
c.5464T>A (p.Tyr1822Asn)
c.5653T>A (p.Tyr1885Asn)
c.5446T>A (p.Tyr1816Asn)
c.2149T>A (p.Tyr717Asn)
n.1470T>A
n.951T>A
c.5650T>A (p.Tyr1884Asn)
c.1974T>A
c.2161T>A (p.Tyr721Asn)
c.*5370T>A (n.*5370T>A)
c.*101T>A (n.*101T>A)
c.517T>A (p.Tyr173Asn)
c.1060T>A (p.Tyr354Asn)
c.286T>A (p.Tyr96Asn)
n.5723T>A
n.5764T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045684G>ACA003736BRCA1c.5583C>T (p.His1861=)
c.5586C>T (p.His1862=)
c.5460C>T (p.His1820=)
c.5580C>T (p.His1860=)
c.5508C>T (p.His1836=)
c.2274C>T (p.His758=)
c.2136C>T (p.His712=)
c.4698C>T (p.His1566=)
c.5463C>T (p.His1821=)
c.5652C>T (p.His1884=)
c.5445C>T (p.His1815=)
c.2148C>T (p.His716=)
n.1469C>T
n.950C>T
c.5649C>T (p.His1883=)
c.1973C>T
c.2160C>T (p.His720=)
c.*5369C>T (n.*5369C>T)
c.*100C>T (n.*100C>T)
c.516C>T (p.His172=)
c.1059C>T (p.His353=)
c.285C>T (p.His95=)
n.5722C>T
n.5763C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045684G>CCA10590152BRCA1c.5583C>G (p.His1861Gln)
c.5586C>G (p.His1862Gln)
c.5460C>G (p.His1820Gln)
c.5580C>G (p.His1860Gln)
c.5508C>G (p.His1836Gln)
c.2274C>G (p.His758Gln)
c.2136C>G (p.His712Gln)
c.4698C>G (p.His1566Gln)
c.5463C>G (p.His1821Gln)
c.5652C>G (p.His1884Gln)
c.5445C>G (p.His1815Gln)
c.2148C>G (p.His716Gln)
n.1469C>G
n.950C>G
c.5649C>G (p.His1883Gln)
c.1973C>G
c.2160C>G (p.His720Gln)
c.*5369C>G (n.*5369C>G)
c.*100C>G (n.*100C>G)
c.516C>G (p.His172Gln)
c.1059C>G (p.His353Gln)
c.285C>G (p.His95Gln)
n.5722C>G
n.5763C>G
 ClinVar dbSNP
17g.43045684G=CA2260761004BRCA1c.5583C= (p.His1861=)
c.5586C= (p.His1862=)
c.5460C= (p.His1820=)
c.5580C= (p.His1860=)
c.5508C= (p.His1836=)
c.2274C= (p.His758=)
c.2136C= (p.His712=)
c.4698C= (p.His1566=)
c.5463C= (p.His1821=)
c.5652C= (p.His1884=)
c.5445C= (p.His1815=)
c.2148C= (p.His716=)
n.1469C=
n.950C=
c.5649C= (p.His1883=)
c.1973C=
c.2160C= (p.His720=)
c.*5369C= (n.*5369C=)
c.*100C= (n.*100C=)
c.516C= (p.His172=)
c.1059C= (p.His353=)
c.285C= (p.His95=)
n.5722C=
n.5763C=
17g.43045684G>TCA10590153BRCA1c.5583C>A (p.His1861Gln)
c.5586C>A (p.His1862Gln)
c.5460C>A (p.His1820Gln)
c.5580C>A (p.His1860Gln)
c.5508C>A (p.His1836Gln)
c.2274C>A (p.His758Gln)
c.2136C>A (p.His712Gln)
c.4698C>A (p.His1566Gln)
c.5463C>A (p.His1821Gln)
c.5652C>A (p.His1884Gln)
c.5445C>A (p.His1815Gln)
c.2148C>A (p.His716Gln)
n.1469C>A
n.950C>A
c.5649C>A (p.His1883Gln)
c.1973C>A
c.2160C>A (p.His720Gln)
c.*5369C>A (n.*5369C>A)
c.*100C>A (n.*100C>A)
c.516C>A (p.His172Gln)
c.1059C>A (p.His353Gln)
c.285C>A (p.His95Gln)
n.5722C>A
n.5763C>A
 ClinVar
17g.43045685T>ACA003734BRCA1c.5582A>T (p.His1861Leu)
c.5585A>T (p.His1862Leu)
c.5459A>T (p.His1820Leu)
c.5579A>T (p.His1860Leu)
c.5507A>T (p.His1836Leu)
c.2273A>T (p.His758Leu)
c.2135A>T (p.His712Leu)
c.4697A>T (p.His1566Leu)
c.5462A>T (p.His1821Leu)
c.5651A>T (p.His1884Leu)
c.5444A>T (p.His1815Leu)
c.2147A>T (p.His716Leu)
n.1468A>T
n.949A>T
c.5648A>T (p.His1883Leu)
c.1972A>T
c.2159A>T (p.His720Leu)
c.*5368A>T (n.*5368A>T)
c.*99A>T (n.*99A>T)
c.515A>T (p.His172Leu)
c.1058A>T (p.His353Leu)
c.284A>T (p.His95Leu)
n.5721A>T
n.5762A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045685T>CCA10590154BRCA1c.5582A>G (p.His1861Arg)
c.5585A>G (p.His1862Arg)
c.5459A>G (p.His1820Arg)
c.5579A>G (p.His1860Arg)
c.5507A>G (p.His1836Arg)
c.2273A>G (p.His758Arg)
c.2135A>G (p.His712Arg)
c.4697A>G (p.His1566Arg)
c.5462A>G (p.His1821Arg)
c.5651A>G (p.His1884Arg)
c.5444A>G (p.His1815Arg)
c.2147A>G (p.His716Arg)
n.1468A>G
n.949A>G
c.5648A>G (p.His1883Arg)
c.1972A>G
c.2159A>G (p.His720Arg)
c.*5368A>G (n.*5368A>G)
c.*99A>G (n.*99A>G)
c.515A>G (p.His172Arg)
c.1058A>G (p.His353Arg)
c.284A>G (p.His95Arg)
n.5721A>G
n.5762A>G
 ClinVar dbSNP
17g.43045685T>GCA10590155BRCA1c.5582A>C (p.His1861Pro)
c.5585A>C (p.His1862Pro)
c.5459A>C (p.His1820Pro)
c.5579A>C (p.His1860Pro)
c.5507A>C (p.His1836Pro)
c.2273A>C (p.His758Pro)
c.2135A>C (p.His712Pro)
c.4697A>C (p.His1566Pro)
c.5462A>C (p.His1821Pro)
c.5651A>C (p.His1884Pro)
c.5444A>C (p.His1815Pro)
c.2147A>C (p.His716Pro)
n.1468A>C
n.949A>C
c.5648A>C (p.His1883Pro)
c.1972A>C
c.2159A>C (p.His720Pro)
c.*5368A>C (n.*5368A>C)
c.*99A>C (n.*99A>C)
c.515A>C (p.His172Pro)
c.1058A>C (p.His353Pro)
c.284A>C (p.His95Pro)
n.5721A>C
n.5762A>C
17g.43045685T=CA2260761005BRCA1c.5582A= (p.His1861=)
c.5585A= (p.His1862=)
c.5459A= (p.His1820=)
c.5579A= (p.His1860=)
c.5507A= (p.His1836=)
c.2273A= (p.His758=)
c.2135A= (p.His712=)
c.4697A= (p.His1566=)
c.5462A= (p.His1821=)
c.5651A= (p.His1884=)
c.5444A= (p.His1815=)
c.2147A= (p.His716=)
n.1468A=
n.949A=
c.5648A= (p.His1883=)
c.1972A=
c.2159A= (p.His720=)
c.*5368A= (n.*5368A=)
c.*99A= (n.*99A=)
c.515A= (p.His172=)
c.1058A= (p.His353=)
c.284A= (p.His95=)
n.5721A=
n.5762A=
17g.43045686G>ACA055411BRCA1c.5581C>T (p.His1861Tyr)
c.5584C>T (p.His1862Tyr)
c.5458C>T (p.His1820Tyr)
c.5578C>T (p.His1860Tyr)
c.5506C>T (p.His1836Tyr)
c.2272C>T (p.His758Tyr)
c.2134C>T (p.His712Tyr)
c.4696C>T (p.His1566Tyr)
c.5461C>T (p.His1821Tyr)
c.5650C>T (p.His1884Tyr)
c.5443C>T (p.His1815Tyr)
c.2146C>T (p.His716Tyr)
n.1467C>T
n.948C>T
c.5647C>T (p.His1883Tyr)
c.1971C>T
c.2158C>T (p.His720Tyr)
c.*5367C>T (n.*5367C>T)
c.*98C>T (n.*98C>T)
c.514C>T (p.His172Tyr)
c.1057C>T (p.His353Tyr)
c.283C>T (p.His95Tyr)
n.5720C>T
n.5761C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045686G>CCA10590156BRCA1c.5581C>G (p.His1861Asp)
c.5584C>G (p.His1862Asp)
c.5458C>G (p.His1820Asp)
c.5578C>G (p.His1860Asp)
c.5506C>G (p.His1836Asp)
c.2272C>G (p.His758Asp)
c.2134C>G (p.His712Asp)
c.4696C>G (p.His1566Asp)
c.5461C>G (p.His1821Asp)
c.5650C>G (p.His1884Asp)
c.5443C>G (p.His1815Asp)
c.2146C>G (p.His716Asp)
n.1467C>G
n.948C>G
c.5647C>G (p.His1883Asp)
c.1971C>G
c.2158C>G (p.His720Asp)
c.*5367C>G (n.*5367C>G)
c.*98C>G (n.*98C>G)
c.514C>G (p.His172Asp)
c.1057C>G (p.His353Asp)
c.283C>G (p.His95Asp)
n.5720C>G
n.5761C>G
 dbSNP
17g.43045686G=CA2260761006BRCA1c.5581C= (p.His1861=)
c.5584C= (p.His1862=)
c.5458C= (p.His1820=)
c.5578C= (p.His1860=)
c.5506C= (p.His1836=)
c.2272C= (p.His758=)
c.2134C= (p.His712=)
c.4696C= (p.His1566=)
c.5461C= (p.His1821=)
c.5650C= (p.His1884=)
c.5443C= (p.His1815=)
c.2146C= (p.His716=)
n.1467C=
n.948C=
c.5647C= (p.His1883=)
c.1971C=
c.2158C= (p.His720=)
c.*5367C= (n.*5367C=)
c.*98C= (n.*98C=)
c.514C= (p.His172=)
c.1057C= (p.His353=)
c.283C= (p.His95=)
n.5720C=
n.5761C=
17g.43045686G>TCA10590157BRCA1c.5581C>A (p.His1861Asn)
c.5584C>A (p.His1862Asn)
c.5458C>A (p.His1820Asn)
c.5578C>A (p.His1860Asn)
c.5506C>A (p.His1836Asn)
c.2272C>A (p.His758Asn)
c.2134C>A (p.His712Asn)
c.4696C>A (p.His1566Asn)
c.5461C>A (p.His1821Asn)
c.5650C>A (p.His1884Asn)
c.5443C>A (p.His1815Asn)
c.2146C>A (p.His716Asn)
n.1467C>A
n.948C>A
c.5647C>A (p.His1883Asn)
c.1971C>A
c.2158C>A (p.His720Asn)
c.*5367C>A (n.*5367C>A)
c.*98C>A (n.*98C>A)
c.514C>A (p.His172Asn)
c.1057C>A (p.His353Asn)
c.283C>A (p.His95Asn)
n.5720C>A
n.5761C>A
17g.43045687delCA2638036266BRCA1c.5581del (p.His1861ThrfsTer?)
c.5584del (p.His1862ThrfsTer?)
c.5458del (p.His1820ThrfsTer?)
c.5578del (p.His1860ThrfsTer?)
c.5506del (p.His1836ThrfsTer?)
c.2272del (p.His758ThrfsTer?)
c.2134del (p.His712ThrfsTer?)
c.4696del (p.His1566ThrfsTer?)
c.5461del (p.His1821ThrfsTer?)
c.5650del (p.His1884ThrfsTer?)
c.5443del (p.His1815ThrfsTer?)
c.2146del (p.His716ThrfsTer?)
n.1467del
n.948del
c.5647del (p.His1883ThrfsTer?)
c.1971del
c.2158del (p.His720ThrfsTer?)
c.*5367del (n.*5367del)
c.*98del (n.*98del)
c.514del (p.His172ThrfsTer?)
c.1057del (p.His353ThrfsTer?)
c.283del (p.His95ThrfsTer?)
n.5720del
n.5761del
 dbSNP gnomAD v4
17g.43045687G>ACA500142870BRCA1c.5580C>T (p.Ser1860=)
c.5583C>T (p.Ser1861=)
c.5457C>T (p.Ser1819=)
c.5577C>T (p.Ser1859=)
c.5505C>T (p.Ser1835=)
c.2271C>T (p.Ser757=)
c.2133C>T (p.Ser711=)
c.4695C>T (p.Ser1565=)
c.5460C>T (p.Ser1820=)
c.5649C>T (p.Ser1883=)
c.5442C>T (p.Ser1814=)
c.2145C>T (p.Ser715=)
n.1466C>T
n.947C>T
c.5646C>T (p.Ser1882=)
c.1970C>T
c.2157C>T (p.Ser719=)
c.*5366C>T (n.*5366C>T)
c.*97C>T (n.*97C>T)
c.513C>T (p.Ser171=)
c.1056C>T (p.Ser352=)
c.282C>T (p.Ser94=)
n.5719C>T
n.5760C>T
 dbSNP
17g.43045687G>CCA10590158BRCA1c.5580C>G (p.Ser1860Arg)
c.5583C>G (p.Ser1861Arg)
c.5457C>G (p.Ser1819Arg)
c.5577C>G (p.Ser1859Arg)
c.5505C>G (p.Ser1835Arg)
c.2271C>G (p.Ser757Arg)
c.2133C>G (p.Ser711Arg)
c.4695C>G (p.Ser1565Arg)
c.5460C>G (p.Ser1820Arg)
c.5649C>G (p.Ser1883Arg)
c.5442C>G (p.Ser1814Arg)
c.2145C>G (p.Ser715Arg)
n.1466C>G
n.947C>G
c.5646C>G (p.Ser1882Arg)
c.1970C>G
c.2157C>G (p.Ser719Arg)
c.*5366C>G (n.*5366C>G)
c.*97C>G (n.*97C>G)
c.513C>G (p.Ser171Arg)
c.1056C>G (p.Ser352Arg)
c.282C>G (p.Ser94Arg)
n.5719C>G
n.5760C>G
 dbSNP
17g.43045687G>TCA10590159BRCA1c.5580C>A (p.Ser1860Arg)
c.5583C>A (p.Ser1861Arg)
c.5457C>A (p.Ser1819Arg)
c.5577C>A (p.Ser1859Arg)
c.5505C>A (p.Ser1835Arg)
c.2271C>A (p.Ser757Arg)
c.2133C>A (p.Ser711Arg)
c.4695C>A (p.Ser1565Arg)
c.5460C>A (p.Ser1820Arg)
c.5649C>A (p.Ser1883Arg)
c.5442C>A (p.Ser1814Arg)
c.2145C>A (p.Ser715Arg)
n.1466C>A
n.947C>A
c.5646C>A (p.Ser1882Arg)
c.1970C>A
c.2157C>A (p.Ser719Arg)
c.*5366C>A (n.*5366C>A)
c.*97C>A (n.*97C>A)
c.513C>A (p.Ser171Arg)
c.1056C>A (p.Ser352Arg)
c.282C>A (p.Ser94Arg)
n.5719C>A
n.5760C>A
 ClinVar dbSNP
17g.43045688C>ACA10590160BRCA1c.5579G>T (p.Ser1860Ile)
c.5582G>T (p.Ser1861Ile)
c.5456G>T (p.Ser1819Ile)
c.5576G>T (p.Ser1859Ile)
c.5504G>T (p.Ser1835Ile)
c.2270G>T (p.Ser757Ile)
c.2132G>T (p.Ser711Ile)
c.4694G>T (p.Ser1565Ile)
c.5459G>T (p.Ser1820Ile)
c.5648G>T (p.Ser1883Ile)
c.5441G>T (p.Ser1814Ile)
c.2144G>T (p.Ser715Ile)
n.1465G>T
n.946G>T
c.5645G>T (p.Ser1882Ile)
c.1969G>T
c.2156G>T (p.Ser719Ile)
c.*5365G>T (n.*5365G>T)
c.*96G>T (n.*96G>T)
c.512G>T (p.Ser171Ile)
c.1055G>T (p.Ser352Ile)
c.281G>T (p.Ser94Ile)
n.5718G>T
n.5759G>T
 dbSNP
17g.43045688C=CA2260761007BRCA1c.5579G= (p.Ser1860=)
c.5582G= (p.Ser1861=)
c.5456G= (p.Ser1819=)
c.5576G= (p.Ser1859=)
c.5504G= (p.Ser1835=)
c.2270G= (p.Ser757=)
c.2132G= (p.Ser711=)
c.4694G= (p.Ser1565=)
c.5459G= (p.Ser1820=)
c.5648G= (p.Ser1883=)
c.5441G= (p.Ser1814=)
c.2144G= (p.Ser715=)
n.1465G=
n.946G=
c.5645G= (p.Ser1882=)
c.1969G=
c.2156G= (p.Ser719=)
c.*5365G= (n.*5365G=)
c.*96G= (n.*96G=)
c.512G= (p.Ser171=)
c.1055G= (p.Ser352=)
c.281G= (p.Ser94=)
n.5718G=
n.5759G=
17g.43045688C>GCA10590161BRCA1c.5579G>C (p.Ser1860Thr)
c.5582G>C (p.Ser1861Thr)
c.5456G>C (p.Ser1819Thr)
c.5576G>C (p.Ser1859Thr)
c.5504G>C (p.Ser1835Thr)
c.2270G>C (p.Ser757Thr)
c.2132G>C (p.Ser711Thr)
c.4694G>C (p.Ser1565Thr)
c.5459G>C (p.Ser1820Thr)
c.5648G>C (p.Ser1883Thr)
c.5441G>C (p.Ser1814Thr)
c.2144G>C (p.Ser715Thr)
n.1465G>C
n.946G>C
c.5645G>C (p.Ser1882Thr)
c.1969G>C
c.2156G>C (p.Ser719Thr)
c.*5365G>C (n.*5365G>C)
c.*96G>C (n.*96G>C)
c.512G>C (p.Ser171Thr)
c.1055G>C (p.Ser352Thr)
c.281G>C (p.Ser94Thr)
n.5718G>C
n.5759G>C
 dbSNP
17g.43045688C>TCA10590162BRCA1c.5579G>A (p.Ser1860Asn)
c.5582G>A (p.Ser1861Asn)
c.5456G>A (p.Ser1819Asn)
c.5576G>A (p.Ser1859Asn)
c.5504G>A (p.Ser1835Asn)
c.2270G>A (p.Ser757Asn)
c.2132G>A (p.Ser711Asn)
c.4694G>A (p.Ser1565Asn)
c.5459G>A (p.Ser1820Asn)
c.5648G>A (p.Ser1883Asn)
c.5441G>A (p.Ser1814Asn)
c.2144G>A (p.Ser715Asn)
n.1465G>A
n.946G>A
c.5645G>A (p.Ser1882Asn)
c.1969G>A
c.2156G>A (p.Ser719Asn)
c.*5365G>A (n.*5365G>A)
c.*96G>A (n.*96G>A)
c.512G>A (p.Ser171Asn)
c.1055G>A (p.Ser352Asn)
c.281G>A (p.Ser94Asn)
n.5718G>A
n.5759G>A
 ClinVar dbSNP gnomAD v4
17g.43045689T>ACA10590163BRCA1c.5578A>T (p.Ser1860Cys)
c.5581A>T (p.Ser1861Cys)
c.5455A>T (p.Ser1819Cys)
c.5575A>T (p.Ser1859Cys)
c.5503A>T (p.Ser1835Cys)
c.2269A>T (p.Ser757Cys)
c.2131A>T (p.Ser711Cys)
c.4693A>T (p.Ser1565Cys)
c.5458A>T (p.Ser1820Cys)
c.5647A>T (p.Ser1883Cys)
c.5440A>T (p.Ser1814Cys)
c.2143A>T (p.Ser715Cys)
n.1464A>T
n.945A>T
c.5644A>T (p.Ser1882Cys)
c.1968A>T
c.2155A>T (p.Ser719Cys)
c.*5364A>T (n.*5364A>T)
c.*95A>T (n.*95A>T)
c.511A>T (p.Ser171Cys)
c.1054A>T (p.Ser352Cys)
c.280A>T (p.Ser94Cys)
n.5717A>T
n.5758A>T
 dbSNP
17g.43045689T>CCA10590164BRCA1c.5578A>G (p.Ser1860Gly)
c.5581A>G (p.Ser1861Gly)
c.5455A>G (p.Ser1819Gly)
c.5575A>G (p.Ser1859Gly)
c.5503A>G (p.Ser1835Gly)
c.2269A>G (p.Ser757Gly)
c.2131A>G (p.Ser711Gly)
c.4693A>G (p.Ser1565Gly)
c.5458A>G (p.Ser1820Gly)
c.5647A>G (p.Ser1883Gly)
c.5440A>G (p.Ser1814Gly)
c.2143A>G (p.Ser715Gly)
n.1464A>G
n.945A>G
c.5644A>G (p.Ser1882Gly)
c.1968A>G
c.2155A>G (p.Ser719Gly)
c.*5364A>G (n.*5364A>G)
c.*95A>G (n.*95A>G)
c.511A>G (p.Ser171Gly)
c.1054A>G (p.Ser352Gly)
c.280A>G (p.Ser94Gly)
n.5717A>G
n.5758A>G
 dbSNP
17g.43045689T>GCA10590165BRCA1c.5578A>C (p.Ser1860Arg)
c.5581A>C (p.Ser1861Arg)
c.5455A>C (p.Ser1819Arg)
c.5575A>C (p.Ser1859Arg)
c.5503A>C (p.Ser1835Arg)
c.2269A>C (p.Ser757Arg)
c.2131A>C (p.Ser711Arg)
c.4693A>C (p.Ser1565Arg)
c.5458A>C (p.Ser1820Arg)
c.5647A>C (p.Ser1883Arg)
c.5440A>C (p.Ser1814Arg)
c.2143A>C (p.Ser715Arg)
n.1464A>C
n.945A>C
c.5644A>C (p.Ser1882Arg)
c.1968A>C
c.2155A>C (p.Ser719Arg)
c.*5364A>C (n.*5364A>C)
c.*95A>C (n.*95A>C)
c.511A>C (p.Ser171Arg)
c.1054A>C (p.Ser352Arg)
c.280A>C (p.Ser94Arg)
n.5717A>C
n.5758A>C
17g.43045689T=CA2260761008BRCA1c.5578A= (p.Ser1860=)
c.5581A= (p.Ser1861=)
c.5455A= (p.Ser1819=)
c.5575A= (p.Ser1859=)
c.5503A= (p.Ser1835=)
c.2269A= (p.Ser757=)
c.2131A= (p.Ser711=)
c.4693A= (p.Ser1565=)
c.5458A= (p.Ser1820=)
c.5647A= (p.Ser1883=)
c.5440A= (p.Ser1814=)
c.2143A= (p.Ser715=)
n.1464A=
n.945A=
c.5644A= (p.Ser1882=)
c.1968A=
c.2155A= (p.Ser719=)
c.*5364A= (n.*5364A=)
c.*95A= (n.*95A=)
c.511A= (p.Ser171=)
c.1054A= (p.Ser352=)
c.280A= (p.Ser94=)
n.5717A=
n.5758A=
17g.43045690_43045691insGGGGGGGTGCA919844135BRCA1c.5578_5579insCCCCCCCCA (p.His1859_Ser1860insThrProPro)
c.5581_5582insCCCCCCCCA (p.His1860_Ser1861insThrProPro)
c.5455_5456insCCCCCCCCA (p.His1818_Ser1819insThrProPro)
c.5575_5576insCCCCCCCCA (p.His1858_Ser1859insThrProPro)
c.5503_5504insCCCCCCCCA (p.His1834_Ser1835insThrProPro)
c.2269_2270insCCCCCCCCA (p.His756_Ser757insThrProPro)
c.2131_2132insCCCCCCCCA (p.His710_Ser711insThrProPro)
c.4693_4694insCCCCCCCCA (p.His1564_Ser1565insThrProPro)
c.5458_5459insCCCCCCCCA (p.His1819_Ser1820insThrProPro)
c.5647_5648insCCCCCCCCA (p.His1882_Ser1883insThrProPro)
c.5440_5441insCCCCCCCCA (p.His1813_Ser1814insThrProPro)
c.2143_2144insCCCCCCCCA (p.His714_Ser715insThrProPro)
n.1464_1465insCCCCCCCCA
n.945_946insCCCCCCCCA
c.5644_5645insCCCCCCCCA (p.His1881_Ser1882insThrProPro)
c.1968_1969insCCCCCCCCA
c.2155_2156insCCCCCCCCA (p.His718_Ser719insThrProPro)
c.*5364_*5365insCCCCCCCCA (n.*5364_*5365insCCCCCCCCA)
c.*95_*96insCCCCCCCCA (n.*95_*96insCCCCCCCCA)
c.511_512insCCCCCCCCA (p.His170_Ser171insThrProPro)
c.1054_1055insCCCCCCCCA (p.His351_Ser352insThrProPro)
c.280_281insCCCCCCCCA (p.His93_Ser94insThrProPro)
n.5717_5718insCCCCCCCCA
n.5758_5759insCCCCCCCCA
 dbSNP
17g.43045690G>ACA500142871BRCA1c.5577C>T (p.His1859=)
c.5580C>T (p.His1860=)
c.5454C>T (p.His1818=)
c.5574C>T (p.His1858=)
c.5502C>T (p.His1834=)
c.2268C>T (p.His756=)
c.2130C>T (p.His710=)
c.4692C>T (p.His1564=)
c.5457C>T (p.His1819=)
c.5646C>T (p.His1882=)
c.5439C>T (p.His1813=)
c.2142C>T (p.His714=)
n.1463C>T
n.944C>T
c.5643C>T (p.His1881=)
c.1967C>T
c.2154C>T (p.His718=)
c.*5363C>T (n.*5363C>T)
c.*94C>T (n.*94C>T)
c.510C>T (p.His170=)
c.1053C>T (p.His351=)
c.279C>T (p.His93=)
n.5716C>T
n.5757C>T
 dbSNP
17g.43045690G>CCA10590166BRCA1c.5577C>G (p.His1859Gln)
c.5580C>G (p.His1860Gln)
c.5454C>G (p.His1818Gln)
c.5574C>G (p.His1858Gln)
c.5502C>G (p.His1834Gln)
c.2268C>G (p.His756Gln)
c.2130C>G (p.His710Gln)
c.4692C>G (p.His1564Gln)
c.5457C>G (p.His1819Gln)
c.5646C>G (p.His1882Gln)
c.5439C>G (p.His1813Gln)
c.2142C>G (p.His714Gln)
n.1463C>G
n.944C>G
c.5643C>G (p.His1881Gln)
c.1967C>G
c.2154C>G (p.His718Gln)
c.*5363C>G (n.*5363C>G)
c.*94C>G (n.*94C>G)
c.510C>G (p.His170Gln)
c.1053C>G (p.His351Gln)
c.279C>G (p.His93Gln)
n.5716C>G
n.5757C>G
 ClinVar dbSNP
17g.43045690G=CA2260761010BRCA1c.5577C= (p.His1859=)
c.5580C= (p.His1860=)
c.5454C= (p.His1818=)
c.5574C= (p.His1858=)
c.5502C= (p.His1834=)
c.2268C= (p.His756=)
c.2130C= (p.His710=)
c.4692C= (p.His1564=)
c.5457C= (p.His1819=)
c.5646C= (p.His1882=)
c.5439C= (p.His1813=)
c.2142C= (p.His714=)
n.1463C=
n.944C=
c.5643C= (p.His1881=)
c.1967C=
c.2154C= (p.His718=)
c.*5363C= (n.*5363C=)
c.*94C= (n.*94C=)
c.510C= (p.His170=)
c.1053C= (p.His351=)
c.279C= (p.His93=)
n.5716C=
n.5757C=
17g.43045690G>TCA10590167BRCA1c.5577C>A (p.His1859Gln)
c.5580C>A (p.His1860Gln)
c.5454C>A (p.His1818Gln)
c.5574C>A (p.His1858Gln)
c.5502C>A (p.His1834Gln)
c.2268C>A (p.His756Gln)
c.2130C>A (p.His710Gln)
c.4692C>A (p.His1564Gln)
c.5457C>A (p.His1819Gln)
c.5646C>A (p.His1882Gln)
c.5439C>A (p.His1813Gln)
c.2142C>A (p.His714Gln)
n.1463C>A
n.944C>A
c.5643C>A (p.His1881Gln)
c.1967C>A
c.2154C>A (p.His718Gln)
c.*5363C>A (n.*5363C>A)
c.*94C>A (n.*94C>A)
c.510C>A (p.His170Gln)
c.1053C>A (p.His351Gln)
c.279C>A (p.His93Gln)
n.5716C>A
n.5757C>A
 ClinVar gnomAD v4
17g.43045690_43045691insGGGGGGGGGCA290815285BRCA1c.5577_5578insCCCCCCCCC (p.His1859_Ser1860insProProPro)
c.5580_5581insCCCCCCCCC (p.His1860_Ser1861insProProPro)
c.5454_5455insCCCCCCCCC (p.His1818_Ser1819insProProPro)
c.5574_5575insCCCCCCCCC (p.His1858_Ser1859insProProPro)
c.5502_5503insCCCCCCCCC (p.His1834_Ser1835insProProPro)
c.2268_2269insCCCCCCCCC (p.His756_Ser757insProProPro)
c.2130_2131insCCCCCCCCC (p.His710_Ser711insProProPro)
c.4692_4693insCCCCCCCCC (p.His1564_Ser1565insProProPro)
c.5457_5458insCCCCCCCCC (p.His1819_Ser1820insProProPro)
c.5646_5647insCCCCCCCCC (p.His1882_Ser1883insProProPro)
c.5439_5440insCCCCCCCCC (p.His1813_Ser1814insProProPro)
c.2142_2143insCCCCCCCCC (p.His714_Ser715insProProPro)
n.1463_1464insCCCCCCCCC
n.944_945insCCCCCCCCC
c.5643_5644insCCCCCCCCC (p.His1881_Ser1882insProProPro)
c.1967_1968insCCCCCCCCC
c.2154_2155insCCCCCCCCC (p.His718_Ser719insProProPro)
c.*5363_*5364insCCCCCCCCC (n.*5363_*5364insCCCCCCCCC)
c.*94_*95insCCCCCCCCC (n.*94_*95insCCCCCCCCC)
c.510_511insCCCCCCCCC (p.His170_Ser171insProProPro)
c.1053_1054insCCCCCCCCC (p.His351_Ser352insProProPro)
c.279_280insCCCCCCCCC (p.His93_Ser94insProProPro)
n.5716_5717insCCCCCCCCC
n.5757_5758insCCCCCCCCC
 dbSNP
17g.43045690_43045699delinsGTGGGGGATCCA2260761009BRCA1c.5568_5577delinsGATCCCCCAC (p.Gln1856=)
c.5571_5580delinsGATCCCCCAC (p.Gln1857=)
c.5445_5454delinsGATCCCCCAC (p.Gln1815=)
c.5565_5574delinsGATCCCCCAC (p.Gln1855=)
c.5493_5502delinsGATCCCCCAC (p.Gln1831=)
c.2259_2268delinsGATCCCCCAC (p.Gln753=)
c.2121_2130delinsGATCCCCCAC (p.Gln707=)
c.4683_4692delinsGATCCCCCAC (p.Gln1561=)
c.5448_5457delinsGATCCCCCAC (p.Gln1816=)
c.5637_5646delinsGATCCCCCAC (p.Gln1879=)
c.5430_5439delinsGATCCCCCAC (p.Gln1810=)
c.2133_2142delinsGATCCCCCAC (p.Gln711=)
n.1454_1463delinsGATCCCCCAC
n.935_944delinsGATCCCCCAC
c.5634_5643delinsGATCCCCCAC (p.Gln1878=)
c.1958_1967delinsGATCCCCCAC
c.2145_2154delinsGATCCCCCAC (p.Gln715=)
c.*5354_*5363delinsGATCCCCCAC (n.*5354_*5363delinsGATCCCCCAC)
c.*85_*94delinsGATCCCCCAC (n.*85_*94delinsGATCCCCCAC)
c.501_510delinsGATCCCCCAC (p.Gln167=)
c.1044_1053delinsGATCCCCCAC (p.Gln348=)
c.270_279delinsGATCCCCCAC (p.Gln90=)
n.5707_5716delinsGATCCCCCAC
n.5748_5757delinsGATCCCCCAC
17g.43045690_43045691insGGGGGGGTCCA626075480BRCA1c.5576_5577insGACCCCCCC (p.His1859delinsGlnThrProPro)
c.5579_5580insGACCCCCCC (p.His1860delinsGlnThrProPro)
c.5453_5454insGACCCCCCC (p.His1818delinsGlnThrProPro)
c.5573_5574insGACCCCCCC (p.His1858delinsGlnThrProPro)
c.5501_5502insGACCCCCCC (p.His1834delinsGlnThrProPro)
c.2267_2268insGACCCCCCC (p.His756delinsGlnThrProPro)
c.2129_2130insGACCCCCCC (p.His710delinsGlnThrProPro)
c.4691_4692insGACCCCCCC (p.His1564delinsGlnThrProPro)
c.5456_5457insGACCCCCCC (p.His1819delinsGlnThrProPro)
c.5645_5646insGACCCCCCC (p.His1882delinsGlnThrProPro)
c.5438_5439insGACCCCCCC (p.His1813delinsGlnThrProPro)
c.2141_2142insGACCCCCCC (p.His714delinsGlnThrProPro)
n.1462_1463insGACCCCCCC
n.943_944insGACCCCCCC
c.5642_5643insGACCCCCCC (p.His1881delinsGlnThrProPro)
c.1966_1967insGACCCCCCC
c.2153_2154insGACCCCCCC (p.His718delinsGlnThrProPro)
c.*5362_*5363insGACCCCCCC (n.*5362_*5363insGACCCCCCC)
c.*93_*94insGACCCCCCC (n.*93_*94insGACCCCCCC)
c.509_510insGACCCCCCC (p.His170delinsGlnThrProPro)
c.1052_1053insGACCCCCCC (p.His351delinsGlnThrProPro)
c.278_279insGACCCCCCC (p.His93delinsGlnThrProPro)
n.5715_5716insGACCCCCCC
n.5756_5757insGACCCCCCC
 gnomAD v2
17g.43045691T>ACA10590168BRCA1c.5576A>T (p.His1859Leu)
c.5579A>T (p.His1860Leu)
c.5453A>T (p.His1818Leu)
c.5573A>T (p.His1858Leu)
c.5501A>T (p.His1834Leu)
c.2267A>T (p.His756Leu)
c.2129A>T (p.His710Leu)
c.4691A>T (p.His1564Leu)
c.5456A>T (p.His1819Leu)
c.5645A>T (p.His1882Leu)
c.5438A>T (p.His1813Leu)
c.2141A>T (p.His714Leu)
n.1462A>T
n.943A>T
c.5642A>T (p.His1881Leu)
c.1966A>T
c.2153A>T (p.His718Leu)
c.*5362A>T (n.*5362A>T)
c.*93A>T (n.*93A>T)
c.509A>T (p.His170Leu)
c.1052A>T (p.His351Leu)
c.278A>T (p.His93Leu)
n.5715A>T
n.5756A>T
17g.43045691T>CCA10590169BRCA1c.5576A>G (p.His1859Arg)
c.5579A>G (p.His1860Arg)
c.5453A>G (p.His1818Arg)
c.5573A>G (p.His1858Arg)
c.5501A>G (p.His1834Arg)
c.2267A>G (p.His756Arg)
c.2129A>G (p.His710Arg)
c.4691A>G (p.His1564Arg)
c.5456A>G (p.His1819Arg)
c.5645A>G (p.His1882Arg)
c.5438A>G (p.His1813Arg)
c.2141A>G (p.His714Arg)
n.1462A>G
n.943A>G
c.5642A>G (p.His1881Arg)
c.1966A>G
c.2153A>G (p.His718Arg)
c.*5362A>G (n.*5362A>G)
c.*93A>G (n.*93A>G)
c.509A>G (p.His170Arg)
c.1052A>G (p.His351Arg)
c.278A>G (p.His93Arg)
n.5715A>G
n.5756A>G
17g.43045691T>GCA003731BRCA1c.5576A>C (p.His1859Pro)
c.5579A>C (p.His1860Pro)
c.5453A>C (p.His1818Pro)
c.5573A>C (p.His1858Pro)
c.5501A>C (p.His1834Pro)
c.2267A>C (p.His756Pro)
c.2129A>C (p.His710Pro)
c.4691A>C (p.His1564Pro)
c.5456A>C (p.His1819Pro)
c.5645A>C (p.His1882Pro)
c.5438A>C (p.His1813Pro)
c.2141A>C (p.His714Pro)
n.1462A>C
n.943A>C
c.5642A>C (p.His1881Pro)
c.1966A>C
c.2153A>C (p.His718Pro)
c.*5362A>C (n.*5362A>C)
c.*93A>C (n.*93A>C)
c.509A>C (p.His170Pro)
c.1052A>C (p.His351Pro)
c.278A>C (p.His93Pro)
n.5715A>C
n.5756A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045691T=CA2260761011BRCA1c.5576A= (p.His1859=)
c.5579A= (p.His1860=)
c.5453A= (p.His1818=)
c.5573A= (p.His1858=)
c.5501A= (p.His1834=)
c.2267A= (p.His756=)
c.2129A= (p.His710=)
c.4691A= (p.His1564=)
c.5456A= (p.His1819=)
c.5645A= (p.His1882=)
c.5438A= (p.His1813=)
c.2141A= (p.His714=)
n.1462A=
n.943A=
c.5642A= (p.His1881=)
c.1966A=
c.2153A= (p.His718=)
c.*5362A= (n.*5362A=)
c.*93A= (n.*93A=)
c.509A= (p.His170=)
c.1052A= (p.His351=)
c.278A= (p.His93=)
n.5715A=
n.5756A=
17g.43045691_43045692delinsTGCA2260761012BRCA1c.5575_5576delinsCA (p.His1859=)
c.5578_5579delinsCA (p.His1860=)
c.5452_5453delinsCA (p.His1818=)
c.5572_5573delinsCA (p.His1858=)
c.5500_5501delinsCA (p.His1834=)
c.2266_2267delinsCA (p.His756=)
c.2128_2129delinsCA (p.His710=)
c.4690_4691delinsCA (p.His1564=)
c.5455_5456delinsCA (p.His1819=)
c.5644_5645delinsCA (p.His1882=)
c.5437_5438delinsCA (p.His1813=)
c.2140_2141delinsCA (p.His714=)
n.1461_1462delinsCA
n.942_943delinsCA
c.5641_5642delinsCA (p.His1881=)
c.1965_1966delinsCA
c.2152_2153delinsCA (p.His718=)
c.*5361_*5362delinsCA (n.*5361_*5362delinsCA)
c.*92_*93delinsCA (n.*92_*93delinsCA)
c.508_509delinsCA (p.His170=)
c.1051_1052delinsCA (p.His351=)
c.277_278delinsCA (p.His93=)
n.5714_5715delinsCA
n.5755_5756delinsCA
17g.43045696_43045704delCA003724BRCA1c.5568_5576del (p.Gln1856_Pro1858del)
c.5571_5579del (p.Gln1857_Pro1859del)
c.5445_5453del (p.Gln1815_Pro1817del)
c.5565_5573del (p.Gln1855_Pro1857del)
c.5493_5501del (p.Gln1831_Pro1833del)
c.2259_2267del (p.Gln753_Pro755del)
c.2121_2129del (p.Gln707_Pro709del)
c.4683_4691del (p.Gln1561_Pro1563del)
c.5448_5456del (p.Gln1816_Pro1818del)
c.5637_5645del (p.Gln1879_Pro1881del)
c.5430_5438del (p.Gln1810_Pro1812del)
c.2133_2141del (p.Gln711_Pro713del)
n.1454_1462del
n.935_943del
c.5634_5642del (p.Gln1878_Pro1880del)
c.1958_1966del
c.2145_2153del (p.Gln715_Pro717del)
c.*5354_*5362del (n.*5354_*5362del)
c.*85_*93del (n.*85_*93del)
c.501_509del (p.Gln167_Pro169del)
c.1044_1052del (p.Gln348_Pro350del)
c.270_278del (p.Gln90_Pro92del)
n.5707_5715del
n.5748_5756del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045692G>ACA10590170BRCA1c.5575C>T (p.His1859Tyr)
c.5578C>T (p.His1860Tyr)
c.5452C>T (p.His1818Tyr)
c.5572C>T (p.His1858Tyr)
c.5500C>T (p.His1834Tyr)
c.2266C>T (p.His756Tyr)
c.2128C>T (p.His710Tyr)
c.4690C>T (p.His1564Tyr)
c.5455C>T (p.His1819Tyr)
c.5644C>T (p.His1882Tyr)
c.5437C>T (p.His1813Tyr)
c.2140C>T (p.His714Tyr)
n.1461C>T
n.942C>T
c.5641C>T (p.His1881Tyr)
c.1965C>T
c.2152C>T (p.His718Tyr)
c.*5361C>T (n.*5361C>T)
c.*92C>T (n.*92C>T)
c.508C>T (p.His170Tyr)
c.1051C>T (p.His351Tyr)
c.277C>T (p.His93Tyr)
n.5714C>T
n.5755C>T
17g.43045692G>CCA10590171BRCA1c.5575C>G (p.His1859Asp)
c.5578C>G (p.His1860Asp)
c.5452C>G (p.His1818Asp)
c.5572C>G (p.His1858Asp)
c.5500C>G (p.His1834Asp)
c.2266C>G (p.His756Asp)
c.2128C>G (p.His710Asp)
c.4690C>G (p.His1564Asp)
c.5455C>G (p.His1819Asp)
c.5644C>G (p.His1882Asp)
c.5437C>G (p.His1813Asp)
c.2140C>G (p.His714Asp)
n.1461C>G
n.942C>G
c.5641C>G (p.His1881Asp)
c.1965C>G
c.2152C>G (p.His718Asp)
c.*5361C>G (n.*5361C>G)
c.*92C>G (n.*92C>G)
c.508C>G (p.His170Asp)
c.1051C>G (p.His351Asp)
c.277C>G (p.His93Asp)
n.5714C>G
n.5755C>G
 gnomAD v4
17g.43045692G>TCA10590172BRCA1c.5575C>A (p.His1859Asn)
c.5578C>A (p.His1860Asn)
c.5452C>A (p.His1818Asn)
c.5572C>A (p.His1858Asn)
c.5500C>A (p.His1834Asn)
c.2266C>A (p.His756Asn)
c.2128C>A (p.His710Asn)
c.4690C>A (p.His1564Asn)
c.5455C>A (p.His1819Asn)
c.5644C>A (p.His1882Asn)
c.5437C>A (p.His1813Asn)
c.2140C>A (p.His714Asn)
n.1461C>A
n.942C>A
c.5641C>A (p.His1881Asn)
c.1965C>A
c.2152C>A (p.His718Asn)
c.*5361C>A (n.*5361C>A)
c.*92C>A (n.*92C>A)
c.508C>A (p.His170Asn)
c.1051C>A (p.His351Asn)
c.277C>A (p.His93Asn)
n.5714C>A
n.5755C>A
 ClinVar
17g.43045696dupCA003730BRCA1c.5575dup (p.His1859ProfsTer20)
c.5578dup (p.His1860ProfsTer20)
c.5452dup (p.His1818ProfsTer20)
c.5572dup (p.His1858ProfsTer20)
c.5500dup (p.His1834ProfsTer20)
c.2266dup (p.His756ProfsTer20)
c.2128dup (p.His710ProfsTer20)
c.4690dup (p.His1564ProfsTer20)
c.5455dup (p.His1819ProfsTer20)
c.5644dup (p.His1882ProfsTer20)
c.5437dup (p.His1813ProfsTer20)
c.2140dup (p.His714ProfsTer20)
n.1461dup
n.942dup
c.5641dup (p.His1881ProfsTer20)
c.1965dup
c.2152dup (p.His718ProfsTer20)
c.*5361dup (n.*5361dup)
c.*92dup (n.*92dup)
c.2266dup (p.His756ProfsTer?)
c.508dup (p.His170ProfsTer20)
c.1051dup (p.His351ProfsTer20)
c.277dup (p.His93ProfsTer20)
n.5714dup
n.5755dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045696delCA919844136BRCA1c.5575del (p.His1859ThrfsTer?)
c.5578del (p.His1860ThrfsTer?)
c.5452del (p.His1818ThrfsTer?)
c.5572del (p.His1858ThrfsTer?)
c.5500del (p.His1834ThrfsTer?)
c.2266del (p.His756ThrfsTer?)
c.2128del (p.His710ThrfsTer?)
c.4690del (p.His1564ThrfsTer?)
c.5455del (p.His1819ThrfsTer?)
c.5644del (p.His1882ThrfsTer?)
c.5437del (p.His1813ThrfsTer?)
c.2140del (p.His714ThrfsTer?)
n.1461del
n.942del
c.5641del (p.His1881ThrfsTer?)
c.1965del
c.2152del (p.His718ThrfsTer?)
c.*5361del (n.*5361del)
c.*92del (n.*92del)
c.508del (p.His170ThrfsTer?)
c.1051del (p.His351ThrfsTer?)
c.277del (p.His93ThrfsTer?)
n.5714del
n.5755del
 ClinVar dbSNP
17g.43045693G>ACA500142872BRCA1c.5574C>T (p.Pro1858=)
c.5577C>T (p.Pro1859=)
c.5451C>T (p.Pro1817=)
c.5571C>T (p.Pro1857=)
c.5499C>T (p.Pro1833=)
c.2265C>T (p.Pro755=)
c.2127C>T (p.Pro709=)
c.4689C>T (p.Pro1563=)
c.5454C>T (p.Pro1818=)
c.5643C>T (p.Pro1881=)
c.5436C>T (p.Pro1812=)
c.2139C>T (p.Pro713=)
n.1460C>T
n.941C>T
c.5640C>T (p.Pro1880=)
c.1964C>T
c.2151C>T (p.Pro717=)
c.*5360C>T (n.*5360C>T)
c.*91C>T (n.*91C>T)
c.507C>T (p.Pro169=)
c.1050C>T (p.Pro350=)
c.276C>T (p.Pro92=)
n.5713C>T
n.5754C>T
 ClinVar dbSNP
17g.43045693G>CCA500142873BRCA1c.5574C>G (p.Pro1858=)
c.5577C>G (p.Pro1859=)
c.5451C>G (p.Pro1817=)
c.5571C>G (p.Pro1857=)
c.5499C>G (p.Pro1833=)
c.2265C>G (p.Pro755=)
c.2127C>G (p.Pro709=)
c.4689C>G (p.Pro1563=)
c.5454C>G (p.Pro1818=)
c.5643C>G (p.Pro1881=)
c.5436C>G (p.Pro1812=)
c.2139C>G (p.Pro713=)
n.1460C>G
n.941C>G
c.5640C>G (p.Pro1880=)
c.1964C>G
c.2151C>G (p.Pro717=)
c.*5360C>G (n.*5360C>G)
c.*91C>G (n.*91C>G)
c.507C>G (p.Pro169=)
c.1050C>G (p.Pro350=)
c.276C>G (p.Pro92=)
n.5713C>G
n.5754C>G
 dbSNP
17g.43045693G>TCA500142874BRCA1c.5574C>A (p.Pro1858=)
c.5577C>A (p.Pro1859=)
c.5451C>A (p.Pro1817=)
c.5571C>A (p.Pro1857=)
c.5499C>A (p.Pro1833=)
c.2265C>A (p.Pro755=)
c.2127C>A (p.Pro709=)
c.4689C>A (p.Pro1563=)
c.5454C>A (p.Pro1818=)
c.5643C>A (p.Pro1881=)
c.5436C>A (p.Pro1812=)
c.2139C>A (p.Pro713=)
n.1460C>A
n.941C>A
c.5640C>A (p.Pro1880=)
c.1964C>A
c.2151C>A (p.Pro717=)
c.*5360C>A (n.*5360C>A)
c.*91C>A (n.*91C>A)
c.507C>A (p.Pro169=)
c.1050C>A (p.Pro350=)
c.276C>A (p.Pro92=)
n.5713C>A
n.5754C>A
17g.43045694G>ACA10590173BRCA1c.5573C>T (p.Pro1858Leu)
c.5576C>T (p.Pro1859Leu)
c.5450C>T (p.Pro1817Leu)
c.5570C>T (p.Pro1857Leu)
c.5498C>T (p.Pro1833Leu)
c.2264C>T (p.Pro755Leu)
c.2126C>T (p.Pro709Leu)
c.4688C>T (p.Pro1563Leu)
c.5453C>T (p.Pro1818Leu)
c.5642C>T (p.Pro1881Leu)
c.5435C>T (p.Pro1812Leu)
c.2138C>T (p.Pro713Leu)
n.1459C>T
n.940C>T
c.5639C>T (p.Pro1880Leu)
c.1963C>T
c.2150C>T (p.Pro717Leu)
c.*5359C>T (n.*5359C>T)
c.*90C>T (n.*90C>T)
c.506C>T (p.Pro169Leu)
c.1049C>T (p.Pro350Leu)
c.275C>T (p.Pro92Leu)
n.5712C>T
n.5753C>T
 ClinVar dbSNP
17g.43045694G>CCA003729BRCA1c.5573C>G (p.Pro1858Arg)
c.5576C>G (p.Pro1859Arg)
c.5450C>G (p.Pro1817Arg)
c.5570C>G (p.Pro1857Arg)
c.5498C>G (p.Pro1833Arg)
c.2264C>G (p.Pro755Arg)
c.2126C>G (p.Pro709Arg)
c.4688C>G (p.Pro1563Arg)
c.5453C>G (p.Pro1818Arg)
c.5642C>G (p.Pro1881Arg)
c.5435C>G (p.Pro1812Arg)
c.2138C>G (p.Pro713Arg)
n.1459C>G
n.940C>G
c.5639C>G (p.Pro1880Arg)
c.1963C>G
c.2150C>G (p.Pro717Arg)
c.*5359C>G (n.*5359C>G)
c.*90C>G (n.*90C>G)
c.506C>G (p.Pro169Arg)
c.1049C>G (p.Pro350Arg)
c.275C>G (p.Pro92Arg)
n.5712C>G
n.5753C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045694G=CA2260761013BRCA1c.5573C= (p.Pro1858=)
c.5576C= (p.Pro1859=)
c.5450C= (p.Pro1817=)
c.5570C= (p.Pro1857=)
c.5498C= (p.Pro1833=)
c.2264C= (p.Pro755=)
c.2126C= (p.Pro709=)
c.4688C= (p.Pro1563=)
c.5453C= (p.Pro1818=)
c.5642C= (p.Pro1881=)
c.5435C= (p.Pro1812=)
c.2138C= (p.Pro713=)
n.1459C=
n.940C=
c.5639C= (p.Pro1880=)
c.1963C=
c.2150C= (p.Pro717=)
c.*5359C= (n.*5359C=)
c.*90C= (n.*90C=)
c.506C= (p.Pro169=)
c.1049C= (p.Pro350=)
c.275C= (p.Pro92=)
n.5712C=
n.5753C=
17g.43045694G>TCA10590174BRCA1c.5573C>A (p.Pro1858His)
c.5576C>A (p.Pro1859His)
c.5450C>A (p.Pro1817His)
c.5570C>A (p.Pro1857His)
c.5498C>A (p.Pro1833His)
c.2264C>A (p.Pro755His)
c.2126C>A (p.Pro709His)
c.4688C>A (p.Pro1563His)
c.5453C>A (p.Pro1818His)
c.5642C>A (p.Pro1881His)
c.5435C>A (p.Pro1812His)
c.2138C>A (p.Pro713His)
n.1459C>A
n.940C>A
c.5639C>A (p.Pro1880His)
c.1963C>A
c.2150C>A (p.Pro717His)
c.*5359C>A (n.*5359C>A)
c.*90C>A (n.*90C>A)
c.506C>A (p.Pro169His)
c.1049C>A (p.Pro350His)
c.275C>A (p.Pro92His)
n.5712C>A
n.5753C>A
 dbSNP
17g.43045695G>ACA10590175BRCA1c.5572C>T (p.Pro1858Ser)
c.5575C>T (p.Pro1859Ser)
c.5449C>T (p.Pro1817Ser)
c.5569C>T (p.Pro1857Ser)
c.5497C>T (p.Pro1833Ser)
c.2263C>T (p.Pro755Ser)
c.2125C>T (p.Pro709Ser)
c.4687C>T (p.Pro1563Ser)
c.5452C>T (p.Pro1818Ser)
c.5641C>T (p.Pro1881Ser)
c.5434C>T (p.Pro1812Ser)
c.2137C>T (p.Pro713Ser)
n.1458C>T
n.939C>T
c.5638C>T (p.Pro1880Ser)
c.1962C>T
c.2149C>T (p.Pro717Ser)
c.*5358C>T (n.*5358C>T)
c.*89C>T (n.*89C>T)
c.505C>T (p.Pro169Ser)
c.1048C>T (p.Pro350Ser)
c.274C>T (p.Pro92Ser)
n.5711C>T
n.5752C>T
 ClinVar dbSNP
17g.43045695G>CCA10590176BRCA1c.5572C>G (p.Pro1858Ala)
c.5575C>G (p.Pro1859Ala)
c.5449C>G (p.Pro1817Ala)
c.5569C>G (p.Pro1857Ala)
c.5497C>G (p.Pro1833Ala)
c.2263C>G (p.Pro755Ala)
c.2125C>G (p.Pro709Ala)
c.4687C>G (p.Pro1563Ala)
c.5452C>G (p.Pro1818Ala)
c.5641C>G (p.Pro1881Ala)
c.5434C>G (p.Pro1812Ala)
c.2137C>G (p.Pro713Ala)
n.1458C>G
n.939C>G
c.5638C>G (p.Pro1880Ala)
c.1962C>G
c.2149C>G (p.Pro717Ala)
c.*5358C>G (n.*5358C>G)
c.*89C>G (n.*89C>G)
c.505C>G (p.Pro169Ala)
c.1048C>G (p.Pro350Ala)
c.274C>G (p.Pro92Ala)
n.5711C>G
n.5752C>G
 dbSNP
17g.43045695G=CA2260761014BRCA1c.5572C= (p.Pro1858=)
c.5575C= (p.Pro1859=)
c.5449C= (p.Pro1817=)
c.5569C= (p.Pro1857=)
c.5497C= (p.Pro1833=)
c.2263C= (p.Pro755=)
c.2125C= (p.Pro709=)
c.4687C= (p.Pro1563=)
c.5452C= (p.Pro1818=)
c.5641C= (p.Pro1881=)
c.5434C= (p.Pro1812=)
c.2137C= (p.Pro713=)
n.1458C=
n.939C=
c.5638C= (p.Pro1880=)
c.1962C=
c.2149C= (p.Pro717=)
c.*5358C= (n.*5358C=)
c.*89C= (n.*89C=)
c.505C= (p.Pro169=)
c.1048C= (p.Pro350=)
c.274C= (p.Pro92=)
n.5711C=
n.5752C=
17g.43045695G>TCA10590177BRCA1c.5572C>A (p.Pro1858Thr)
c.5575C>A (p.Pro1859Thr)
c.5449C>A (p.Pro1817Thr)
c.5569C>A (p.Pro1857Thr)
c.5497C>A (p.Pro1833Thr)
c.2263C>A (p.Pro755Thr)
c.2125C>A (p.Pro709Thr)
c.4687C>A (p.Pro1563Thr)
c.5452C>A (p.Pro1818Thr)
c.5641C>A (p.Pro1881Thr)
c.5434C>A (p.Pro1812Thr)
c.2137C>A (p.Pro713Thr)
n.1458C>A
n.939C>A
c.5638C>A (p.Pro1880Thr)
c.1962C>A
c.2149C>A (p.Pro717Thr)
c.*5358C>A (n.*5358C>A)
c.*89C>A (n.*89C>A)
c.505C>A (p.Pro169Thr)
c.1048C>A (p.Pro350Thr)
c.274C>A (p.Pro92Thr)
n.5711C>A
n.5752C>A
 ClinVar dbSNP gnomAD v4
17g.43045696G>ACA10580479BRCA1c.5571C>T (p.Ile1857=)
c.5574C>T (p.Ile1858=)
c.5448C>T (p.Ile1816=)
c.5568C>T (p.Ile1856=)
c.5496C>T (p.Ile1832=)
c.2262C>T (p.Ile754=)
c.2124C>T (p.Ile708=)
c.4686C>T (p.Ile1562=)
c.5451C>T (p.Ile1817=)
c.5640C>T (p.Ile1880=)
c.5433C>T (p.Ile1811=)
c.2136C>T (p.Ile712=)
n.1457C>T
n.938C>T
c.5637C>T (p.Ile1879=)
c.1961C>T
c.2148C>T (p.Ile716=)
c.*5357C>T (n.*5357C>T)
c.*88C>T (n.*88C>T)
c.504C>T (p.Ile168=)
c.1047C>T (p.Ile349=)
c.273C>T (p.Ile91=)
n.5710C>T
n.5751C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045696G>CCA10590178BRCA1c.5571C>G (p.Ile1857Met)
c.5574C>G (p.Ile1858Met)
c.5448C>G (p.Ile1816Met)
c.5568C>G (p.Ile1856Met)
c.5496C>G (p.Ile1832Met)
c.2262C>G (p.Ile754Met)
c.2124C>G (p.Ile708Met)
c.4686C>G (p.Ile1562Met)
c.5451C>G (p.Ile1817Met)
c.5640C>G (p.Ile1880Met)
c.5433C>G (p.Ile1811Met)
c.2136C>G (p.Ile712Met)
n.1457C>G
n.938C>G
c.5637C>G (p.Ile1879Met)
c.1961C>G
c.2148C>G (p.Ile716Met)
c.*5357C>G (n.*5357C>G)
c.*88C>G (n.*88C>G)
c.504C>G (p.Ile168Met)
c.1047C>G (p.Ile349Met)
c.273C>G (p.Ile91Met)
n.5710C>G
n.5751C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045696G=CA2260761016BRCA1c.5571C= (p.Ile1857=)
c.5574C= (p.Ile1858=)
c.5448C= (p.Ile1816=)
c.5568C= (p.Ile1856=)
c.5496C= (p.Ile1832=)
c.2262C= (p.Ile754=)
c.2124C= (p.Ile708=)
c.4686C= (p.Ile1562=)
c.5451C= (p.Ile1817=)
c.5640C= (p.Ile1880=)
c.5433C= (p.Ile1811=)
c.2136C= (p.Ile712=)
n.1457C=
n.938C=
c.5637C= (p.Ile1879=)
c.1961C=
c.2148C= (p.Ile716=)
c.*5357C= (n.*5357C=)
c.*88C= (n.*88C=)
c.504C= (p.Ile168=)
c.1047C= (p.Ile349=)
c.273C= (p.Ile91=)
n.5710C=
n.5751C=
17g.43045696G>TCA500142875BRCA1c.5571C>A (p.Ile1857=)
c.5574C>A (p.Ile1858=)
c.5448C>A (p.Ile1816=)
c.5568C>A (p.Ile1856=)
c.5496C>A (p.Ile1832=)
c.2262C>A (p.Ile754=)
c.2124C>A (p.Ile708=)
c.4686C>A (p.Ile1562=)
c.5451C>A (p.Ile1817=)
c.5640C>A (p.Ile1880=)
c.5433C>A (p.Ile1811=)
c.2136C>A (p.Ile712=)
n.1457C>A
n.938C>A
c.5637C>A (p.Ile1879=)
c.1961C>A
c.2148C>A (p.Ile716=)
c.*5357C>A (n.*5357C>A)
c.*88C>A (n.*88C>A)
c.504C>A (p.Ile168=)
c.1047C>A (p.Ile349=)
c.273C>A (p.Ile91=)
n.5710C>A
n.5751C>A
 dbSNP COSMIC
17g.43045696_43045700delinsGATCTCA2260761015BRCA1c.5567_5571delinsAGATC (p.Gln1856=)
c.5570_5574delinsAGATC (p.Gln1857=)
c.5444_5448delinsAGATC (p.Gln1815=)
c.5564_5568delinsAGATC (p.Gln1855=)
c.5492_5496delinsAGATC (p.Gln1831=)
c.2258_2262delinsAGATC (p.Gln753=)
c.2120_2124delinsAGATC (p.Gln707=)
c.4682_4686delinsAGATC (p.Gln1561=)
c.5447_5451delinsAGATC (p.Gln1816=)
c.5636_5640delinsAGATC (p.Gln1879=)
c.5429_5433delinsAGATC (p.Gln1810=)
c.2132_2136delinsAGATC (p.Gln711=)
n.1453_1457delinsAGATC
n.934_938delinsAGATC
c.5633_5637delinsAGATC (p.Gln1878=)
c.1957_1961delinsAGATC
c.2144_2148delinsAGATC (p.Gln715=)
c.*5353_*5357delinsAGATC (n.*5353_*5357delinsAGATC)
c.*84_*88delinsAGATC (n.*84_*88delinsAGATC)
c.500_504delinsAGATC (p.Gln167=)
c.1043_1047delinsAGATC (p.Gln348=)
c.269_273delinsAGATC (p.Gln90=)
n.5706_5710delinsAGATC
n.5747_5751delinsAGATC
17g.43045696_43045705delinsGATCTGGGGTCA2260761017BRCA1c.5562_5571delinsACCCCAGATC (p.Ile1854=)
c.5565_5574delinsACCCCAGATC (p.Ile1855=)
c.5439_5448delinsACCCCAGATC (p.Ile1813=)
c.5559_5568delinsACCCCAGATC (p.Ile1853=)
c.5487_5496delinsACCCCAGATC (p.Ile1829=)
c.2253_2262delinsACCCCAGATC (p.Ile751=)
c.2115_2124delinsACCCCAGATC (p.Ile705=)
c.4677_4686delinsACCCCAGATC (p.Ile1559=)
c.5442_5451delinsACCCCAGATC (p.Ile1814=)
c.5631_5640delinsACCCCAGATC (p.Ile1877=)
c.5424_5433delinsACCCCAGATC (p.Ile1808=)
c.2127_2136delinsACCCCAGATC (p.Ile709=)
n.1448_1457delinsACCCCAGATC
n.929_938delinsACCCCAGATC
c.5628_5637delinsACCCCAGATC (p.Ile1876=)
c.1952_1961delinsACCCCAGATC
c.2139_2148delinsACCCCAGATC (p.Ile713=)
c.*5348_*5357delinsACCCCAGATC (n.*5348_*5357delinsACCCCAGATC)
c.*79_*88delinsACCCCAGATC (n.*79_*88delinsACCCCAGATC)
c.495_504delinsACCCCAGATC (p.Ile165=)
c.1038_1047delinsACCCCAGATC (p.Ile346=)
c.264_273delinsACCCCAGATC (p.Ile88=)
n.5701_5710delinsACCCCAGATC
n.5742_5751delinsACCCCAGATC
17g.43045697A=CA2260761018BRCA1c.5570T= (p.Ile1857=)
c.5573T= (p.Ile1858=)
c.5447T= (p.Ile1816=)
c.5567T= (p.Ile1856=)
c.5495T= (p.Ile1832=)
c.2261T= (p.Ile754=)
c.2123T= (p.Ile708=)
c.4685T= (p.Ile1562=)
c.5450T= (p.Ile1817=)
c.5639T= (p.Ile1880=)
c.5432T= (p.Ile1811=)
c.2135T= (p.Ile712=)
n.1456T=
n.937T=
c.5636T= (p.Ile1879=)
c.1960T=
c.2147T= (p.Ile716=)
c.*5356T= (n.*5356T=)
c.*87T= (n.*87T=)
c.503T= (p.Ile168=)
c.1046T= (p.Ile349=)
c.272T= (p.Ile91=)
n.5709T=
n.5750T=
17g.43045697A>CCA10590179BRCA1c.5570T>G (p.Ile1857Ser)
c.5573T>G (p.Ile1858Ser)
c.5447T>G (p.Ile1816Ser)
c.5567T>G (p.Ile1856Ser)
c.5495T>G (p.Ile1832Ser)
c.2261T>G (p.Ile754Ser)
c.2123T>G (p.Ile708Ser)
c.4685T>G (p.Ile1562Ser)
c.5450T>G (p.Ile1817Ser)
c.5639T>G (p.Ile1880Ser)
c.5432T>G (p.Ile1811Ser)
c.2135T>G (p.Ile712Ser)
n.1456T>G
n.937T>G
c.5636T>G (p.Ile1879Ser)
c.1960T>G
c.2147T>G (p.Ile716Ser)
c.*5356T>G (n.*5356T>G)
c.*87T>G (n.*87T>G)
c.503T>G (p.Ile168Ser)
c.1046T>G (p.Ile349Ser)
c.272T>G (p.Ile91Ser)
n.5709T>G
n.5750T>G
17g.43045697A>GCA003728BRCA1c.5570T>C (p.Ile1857Thr)
c.5573T>C (p.Ile1858Thr)
c.5447T>C (p.Ile1816Thr)
c.5567T>C (p.Ile1856Thr)
c.5495T>C (p.Ile1832Thr)
c.2261T>C (p.Ile754Thr)
c.2123T>C (p.Ile708Thr)
c.4685T>C (p.Ile1562Thr)
c.5450T>C (p.Ile1817Thr)
c.5639T>C (p.Ile1880Thr)
c.5432T>C (p.Ile1811Thr)
c.2135T>C (p.Ile712Thr)
n.1456T>C
n.937T>C
c.5636T>C (p.Ile1879Thr)
c.1960T>C
c.2147T>C (p.Ile716Thr)
c.*5356T>C (n.*5356T>C)
c.*87T>C (n.*87T>C)
c.503T>C (p.Ile168Thr)
c.1046T>C (p.Ile349Thr)
c.272T>C (p.Ile91Thr)
n.5709T>C
n.5750T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045697A>TCA10590180BRCA1c.5570T>A (p.Ile1857Asn)
c.5573T>A (p.Ile1858Asn)
c.5447T>A (p.Ile1816Asn)
c.5567T>A (p.Ile1856Asn)
c.5495T>A (p.Ile1832Asn)
c.2261T>A (p.Ile754Asn)
c.2123T>A (p.Ile708Asn)
c.4685T>A (p.Ile1562Asn)
c.5450T>A (p.Ile1817Asn)
c.5639T>A (p.Ile1880Asn)
c.5432T>A (p.Ile1811Asn)
c.2135T>A (p.Ile712Asn)
n.1456T>A
n.937T>A
c.5636T>A (p.Ile1879Asn)
c.1960T>A
c.2147T>A (p.Ile716Asn)
c.*5356T>A (n.*5356T>A)
c.*87T>A (n.*87T>A)
c.503T>A (p.Ile168Asn)
c.1046T>A (p.Ile349Asn)
c.272T>A (p.Ile91Asn)
n.5709T>A
n.5750T>A
 ClinVar dbSNP
17g.43045697_43045700delCA055378BRCA1c.5567_5570del (p.Gln1856ProfsTer?)
c.5570_5573del (p.Gln1857ProfsTer?)
c.5444_5447del (p.Gln1815ProfsTer?)
c.5564_5567del (p.Gln1855ProfsTer?)
c.5492_5495del (p.Gln1831ProfsTer?)
c.2258_2261del (p.Gln753ProfsTer?)
c.2120_2123del (p.Gln707ProfsTer?)
c.4682_4685del (p.Gln1561ProfsTer?)
c.5447_5450del (p.Gln1816ProfsTer?)
c.5636_5639del (p.Gln1879ProfsTer?)
c.5429_5432del (p.Gln1810ProfsTer?)
c.2132_2135del (p.Gln711ProfsTer?)
n.1453_1456del
n.934_937del
c.5633_5636del (p.Gln1878ProfsTer?)
c.1957_1960del
c.2144_2147del (p.Gln715ProfsTer?)
c.*5353_*5356del (n.*5353_*5356del)
c.*84_*87del (n.*84_*87del)
c.500_503del (p.Gln167ProfsTer?)
c.1043_1046del (p.Gln348ProfsTer?)
c.269_272del (p.Gln90ProfsTer?)
n.5706_5709del
n.5747_5750del
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
17g.43045700_43045708delCA003720BRCA1c.5562_5570del (p.Pro1855_Ile1857del)
c.5565_5573del (p.Pro1856_Ile1858del)
c.5439_5447del (p.Pro1814_Ile1816del)
c.5559_5567del (p.Pro1854_Ile1856del)
c.5487_5495del (p.Pro1830_Ile1832del)
c.2253_2261del (p.Pro752_Ile754del)
c.2115_2123del (p.Pro706_Ile708del)
c.4677_4685del (p.Pro1560_Ile1562del)
c.5442_5450del (p.Pro1815_Ile1817del)
c.5631_5639del (p.Pro1878_Ile1880del)
c.5424_5432del (p.Pro1809_Ile1811del)
c.2127_2135del (p.Pro710_Ile712del)
n.1448_1456del
n.929_937del
c.5628_5636del (p.Pro1877_Ile1879del)
c.1952_1960del
c.2139_2147del (p.Pro714_Ile716del)
c.*5348_*5356del (n.*5348_*5356del)
c.*79_*87del (n.*79_*87del)
c.495_503del (p.Pro166_Ile168del)
c.1038_1046del (p.Pro347_Ile349del)
c.264_272del (p.Pro89_Ile91del)
n.5701_5709del
n.5742_5750del
 ClinVar dbSNP
17g.43045698T>ACA10590181BRCA1c.5569A>T (p.Ile1857Phe)
c.5572A>T (p.Ile1858Phe)
c.5446A>T (p.Ile1816Phe)
c.5566A>T (p.Ile1856Phe)
c.5494A>T (p.Ile1832Phe)
c.2260A>T (p.Ile754Phe)
c.2122A>T (p.Ile708Phe)
c.4684A>T (p.Ile1562Phe)
c.5449A>T (p.Ile1817Phe)
c.5638A>T (p.Ile1880Phe)
c.5431A>T (p.Ile1811Phe)
c.2134A>T (p.Ile712Phe)
n.1455A>T
n.936A>T
c.5635A>T (p.Ile1879Phe)
c.1959A>T
c.2146A>T (p.Ile716Phe)
c.*5355A>T (n.*5355A>T)
c.*86A>T (n.*86A>T)
c.502A>T (p.Ile168Phe)
c.1045A>T (p.Ile349Phe)
c.271A>T (p.Ile91Phe)
n.5708A>T
n.5749A>T
 ClinVar dbSNP
17g.43045698T>CCA10590182BRCA1c.5569A>G (p.Ile1857Val)
c.5572A>G (p.Ile1858Val)
c.5446A>G (p.Ile1816Val)
c.5566A>G (p.Ile1856Val)
c.5494A>G (p.Ile1832Val)
c.2260A>G (p.Ile754Val)
c.2122A>G (p.Ile708Val)
c.4684A>G (p.Ile1562Val)
c.5449A>G (p.Ile1817Val)
c.5638A>G (p.Ile1880Val)
c.5431A>G (p.Ile1811Val)
c.2134A>G (p.Ile712Val)
n.1455A>G
n.936A>G
c.5635A>G (p.Ile1879Val)
c.1959A>G
c.2146A>G (p.Ile716Val)
c.*5355A>G (n.*5355A>G)
c.*86A>G (n.*86A>G)
c.502A>G (p.Ile168Val)
c.1045A>G (p.Ile349Val)
c.271A>G (p.Ile91Val)
n.5708A>G
n.5749A>G
 ClinVar dbSNP
17g.43045698T>GCA003726BRCA1c.5569A>C (p.Ile1857Leu)
c.5572A>C (p.Ile1858Leu)
c.5446A>C (p.Ile1816Leu)
c.5566A>C (p.Ile1856Leu)
c.5494A>C (p.Ile1832Leu)
c.2260A>C (p.Ile754Leu)
c.2122A>C (p.Ile708Leu)
c.4684A>C (p.Ile1562Leu)
c.5449A>C (p.Ile1817Leu)
c.5638A>C (p.Ile1880Leu)
c.5431A>C (p.Ile1811Leu)
c.2134A>C (p.Ile712Leu)
n.1455A>C
n.936A>C
c.5635A>C (p.Ile1879Leu)
c.1959A>C
c.2146A>C (p.Ile716Leu)
c.*5355A>C (n.*5355A>C)
c.*86A>C (n.*86A>C)
c.502A>C (p.Ile168Leu)
c.1045A>C (p.Ile349Leu)
c.271A>C (p.Ile91Leu)
n.5708A>C
n.5749A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045698T=CA2260761019BRCA1c.5569A= (p.Ile1857=)
c.5572A= (p.Ile1858=)
c.5446A= (p.Ile1816=)
c.5566A= (p.Ile1856=)
c.5494A= (p.Ile1832=)
c.2260A= (p.Ile754=)
c.2122A= (p.Ile708=)
c.4684A= (p.Ile1562=)
c.5449A= (p.Ile1817=)
c.5638A= (p.Ile1880=)
c.5431A= (p.Ile1811=)
c.2134A= (p.Ile712=)
n.1455A=
n.936A=
c.5635A= (p.Ile1879=)
c.1959A=
c.2146A= (p.Ile716=)
c.*5355A= (n.*5355A=)
c.*86A= (n.*86A=)
c.502A= (p.Ile168=)
c.1045A= (p.Ile349=)
c.271A= (p.Ile91=)
n.5708A=
n.5749A=
17g.43045698_43045699delinsTCCA2260761020BRCA1c.5568_5569delinsGA (p.Gln1856=)
c.5571_5572delinsGA (p.Gln1857=)
c.5445_5446delinsGA (p.Gln1815=)
c.5565_5566delinsGA (p.Gln1855=)
c.5493_5494delinsGA (p.Gln1831=)
c.2259_2260delinsGA (p.Gln753=)
c.2121_2122delinsGA (p.Gln707=)
c.4683_4684delinsGA (p.Gln1561=)
c.5448_5449delinsGA (p.Gln1816=)
c.5637_5638delinsGA (p.Gln1879=)
c.5430_5431delinsGA (p.Gln1810=)
c.2133_2134delinsGA (p.Gln711=)
n.1454_1455delinsGA
n.935_936delinsGA
c.5634_5635delinsGA (p.Gln1878=)
c.1958_1959delinsGA
c.2145_2146delinsGA (p.Gln715=)
c.*5354_*5355delinsGA (n.*5354_*5355delinsGA)
c.*85_*86delinsGA (n.*85_*86delinsGA)
c.501_502delinsGA (p.Gln167=)
c.1044_1045delinsGA (p.Gln348=)
c.270_271delinsGA (p.Gln90=)
n.5707_5708delinsGA
n.5748_5749delinsGA
17g.43045698_43045701delinsACTCA2825002509BRCA1c.5566_5569delinsAGT (p.Gln1856SerfsTer?)
c.5569_5572delinsAGT (p.Gln1857SerfsTer?)
c.5443_5446delinsAGT (p.Gln1815SerfsTer?)
c.5563_5566delinsAGT (p.Gln1855SerfsTer?)
c.5491_5494delinsAGT (p.Gln1831SerfsTer?)
c.2257_2260delinsAGT (p.Gln753SerfsTer?)
c.2119_2122delinsAGT (p.Gln707SerfsTer?)
c.4681_4684delinsAGT (p.Gln1561SerfsTer?)
c.5446_5449delinsAGT (p.Gln1816SerfsTer?)
c.5635_5638delinsAGT (p.Gln1879SerfsTer?)
c.5428_5431delinsAGT (p.Gln1810SerfsTer?)
c.2131_2134delinsAGT (p.Gln711SerfsTer?)
n.1452_1455delinsAGT
n.933_936delinsAGT
c.5632_5635delinsAGT (p.Gln1878SerfsTer?)
c.1956_1959delinsAGT
c.2143_2146delinsAGT (p.Gln715SerfsTer?)
c.*5352_*5355delinsAGT (n.*5352_*5355delinsAGT)
c.*83_*86delinsAGT (n.*83_*86delinsAGT)
c.499_502delinsAGT (p.Gln167SerfsTer?)
c.1042_1045delinsAGT (p.Gln348SerfsTer?)
c.268_271delinsAGT (p.Gln90SerfsTer?)
n.5705_5708delinsAGT
n.5746_5749delinsAGT
 ClinVar
17g.43045699C>ACA10584544BRCA1c.5568G>T (p.Gln1856His)
c.5571G>T (p.Gln1857His)
c.5445G>T (p.Gln1815His)
c.5565G>T (p.Gln1855His)
c.5493G>T (p.Gln1831His)
c.2259G>T (p.Gln753His)
c.2121G>T (p.Gln707His)
c.4683G>T (p.Gln1561His)
c.5448G>T (p.Gln1816His)
c.5637G>T (p.Gln1879His)
c.5430G>T (p.Gln1810His)
c.2133G>T (p.Gln711His)
n.1454G>T
n.935G>T
c.5634G>T (p.Gln1878His)
c.1958G>T
c.2145G>T (p.Gln715His)
c.*5354G>T (n.*5354G>T)
c.*85G>T (n.*85G>T)
c.501G>T (p.Gln167His)
c.1044G>T (p.Gln348His)
c.270G>T (p.Gln90His)
n.5707G>T
n.5748G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045699C=CA2260761021BRCA1c.5568G= (p.Gln1856=)
c.5571G= (p.Gln1857=)
c.5445G= (p.Gln1815=)
c.5565G= (p.Gln1855=)
c.5493G= (p.Gln1831=)
c.2259G= (p.Gln753=)
c.2121G= (p.Gln707=)
c.4683G= (p.Gln1561=)
c.5448G= (p.Gln1816=)
c.5637G= (p.Gln1879=)
c.5430G= (p.Gln1810=)
c.2133G= (p.Gln711=)
n.1454G=
n.935G=
c.5634G= (p.Gln1878=)
c.1958G=
c.2145G= (p.Gln715=)
c.*5354G= (n.*5354G=)
c.*85G= (n.*85G=)
c.501G= (p.Gln167=)
c.1044G= (p.Gln348=)
c.270G= (p.Gln90=)
n.5707G=
n.5748G=
17g.43045699C>GCA003725BRCA1c.5568G>C (p.Gln1856His)
c.5571G>C (p.Gln1857His)
c.5445G>C (p.Gln1815His)
c.5565G>C (p.Gln1855His)
c.5493G>C (p.Gln1831His)
c.2259G>C (p.Gln753His)
c.2121G>C (p.Gln707His)
c.4683G>C (p.Gln1561His)
c.5448G>C (p.Gln1816His)
c.5637G>C (p.Gln1879His)
c.5430G>C (p.Gln1810His)
c.2133G>C (p.Gln711His)
n.1454G>C
n.935G>C
c.5634G>C (p.Gln1878His)
c.1958G>C
c.2145G>C (p.Gln715His)
c.*5354G>C (n.*5354G>C)
c.*85G>C (n.*85G>C)
c.501G>C (p.Gln167His)
c.1044G>C (p.Gln348His)
c.270G>C (p.Gln90His)
n.5707G>C
n.5748G>C
 ClinVar dbSNP
17g.43045699C>TCA500142876BRCA1c.5568G>A (p.Gln1856=)
c.5571G>A (p.Gln1857=)
c.5445G>A (p.Gln1815=)
c.5565G>A (p.Gln1855=)
c.5493G>A (p.Gln1831=)
c.2259G>A (p.Gln753=)
c.2121G>A (p.Gln707=)
c.4683G>A (p.Gln1561=)
c.5448G>A (p.Gln1816=)
c.5637G>A (p.Gln1879=)
c.5430G>A (p.Gln1810=)
c.2133G>A (p.Gln711=)
n.1454G>A
n.935G>A
c.5634G>A (p.Gln1878=)
c.1958G>A
c.2145G>A (p.Gln715=)
c.*5354G>A (n.*5354G>A)
c.*85G>A (n.*85G>A)
c.501G>A (p.Gln167=)
c.1044G>A (p.Gln348=)
c.270G>A (p.Gln90=)
n.5707G>A
n.5748G>A
 dbSNP
17g.43045699delinsGTCA919844137BRCA1c.5568delinsAC (p.Ile1857HisfsTer22)
c.5571delinsAC (p.Ile1858HisfsTer22)
c.5445delinsAC (p.Ile1816HisfsTer22)
c.5565delinsAC (p.Ile1856HisfsTer22)
c.5493delinsAC (p.Ile1832HisfsTer22)
c.2259delinsAC (p.Ile754HisfsTer22)
c.2121delinsAC (p.Ile708HisfsTer22)
c.4683delinsAC (p.Ile1562HisfsTer22)
c.5448delinsAC (p.Ile1817HisfsTer22)
c.5637delinsAC (p.Ile1880HisfsTer22)
c.5430delinsAC (p.Ile1811HisfsTer22)
c.2133delinsAC (p.Ile712HisfsTer22)
n.1454delinsAC
n.935delinsAC
c.5634delinsAC (p.Ile1879HisfsTer22)
c.1958delinsAC
c.2145delinsAC (p.Ile716HisfsTer22)
c.*5354delinsAC (n.*5354delinsAC)
c.*85delinsAC (n.*85delinsAC)
c.2259delinsAC (p.Ile754HisfsTer?)
c.501delinsAC (p.Ile168HisfsTer22)
c.1044delinsAC (p.Ile349HisfsTer22)
c.270delinsAC (p.Ile91HisfsTer22)
n.5707delinsAC
n.5748delinsAC
 dbSNP
17g.43045700T>ACA10590183BRCA1c.5567A>T (p.Gln1856Leu)
c.5570A>T (p.Gln1857Leu)
c.5444A>T (p.Gln1815Leu)
c.5564A>T (p.Gln1855Leu)
c.5492A>T (p.Gln1831Leu)
c.2258A>T (p.Gln753Leu)
c.2120A>T (p.Gln707Leu)
c.4682A>T (p.Gln1561Leu)
c.5447A>T (p.Gln1816Leu)
c.5636A>T (p.Gln1879Leu)
c.5429A>T (p.Gln1810Leu)
c.2132A>T (p.Gln711Leu)
n.1453A>T
n.934A>T
c.5633A>T (p.Gln1878Leu)
c.1957A>T
c.2144A>T (p.Gln715Leu)
c.*5353A>T (n.*5353A>T)
c.*84A>T (n.*84A>T)
c.500A>T (p.Gln167Leu)
c.1043A>T (p.Gln348Leu)
c.269A>T (p.Gln90Leu)
n.5706A>T
n.5747A>T
17g.43045700T>CCA10590184BRCA1c.5567A>G (p.Gln1856Arg)
c.5570A>G (p.Gln1857Arg)
c.5444A>G (p.Gln1815Arg)
c.5564A>G (p.Gln1855Arg)
c.5492A>G (p.Gln1831Arg)
c.2258A>G (p.Gln753Arg)
c.2120A>G (p.Gln707Arg)
c.4682A>G (p.Gln1561Arg)
c.5447A>G (p.Gln1816Arg)
c.5636A>G (p.Gln1879Arg)
c.5429A>G (p.Gln1810Arg)
c.2132A>G (p.Gln711Arg)
n.1453A>G
n.934A>G
c.5633A>G (p.Gln1878Arg)
c.1957A>G
c.2144A>G (p.Gln715Arg)
c.*5353A>G (n.*5353A>G)
c.*84A>G (n.*84A>G)
c.500A>G (p.Gln167Arg)
c.1043A>G (p.Gln348Arg)
c.269A>G (p.Gln90Arg)
n.5706A>G
n.5747A>G
 dbSNP
17g.43045700T>GCA10590185BRCA1c.5567A>C (p.Gln1856Pro)
c.5570A>C (p.Gln1857Pro)
c.5444A>C (p.Gln1815Pro)
c.5564A>C (p.Gln1855Pro)
c.5492A>C (p.Gln1831Pro)
c.2258A>C (p.Gln753Pro)
c.2120A>C (p.Gln707Pro)
c.4682A>C (p.Gln1561Pro)
c.5447A>C (p.Gln1816Pro)
c.5636A>C (p.Gln1879Pro)
c.5429A>C (p.Gln1810Pro)
c.2132A>C (p.Gln711Pro)
n.1453A>C
n.934A>C
c.5633A>C (p.Gln1878Pro)
c.1957A>C
c.2144A>C (p.Gln715Pro)
c.*5353A>C (n.*5353A>C)
c.*84A>C (n.*84A>C)
c.500A>C (p.Gln167Pro)
c.1043A>C (p.Gln348Pro)
c.269A>C (p.Gln90Pro)
n.5706A>C
n.5747A>C
17g.43045700_43045701delinsTGCA2260761022BRCA1c.5566_5567delinsCA (p.Gln1856=)
c.5569_5570delinsCA (p.Gln1857=)
c.5443_5444delinsCA (p.Gln1815=)
c.5563_5564delinsCA (p.Gln1855=)
c.5491_5492delinsCA (p.Gln1831=)
c.2257_2258delinsCA (p.Gln753=)
c.2119_2120delinsCA (p.Gln707=)
c.4681_4682delinsCA (p.Gln1561=)
c.5446_5447delinsCA (p.Gln1816=)
c.5635_5636delinsCA (p.Gln1879=)
c.5428_5429delinsCA (p.Gln1810=)
c.2131_2132delinsCA (p.Gln711=)
n.1452_1453delinsCA
n.933_934delinsCA
c.5632_5633delinsCA (p.Gln1878=)
c.1956_1957delinsCA
c.2143_2144delinsCA (p.Gln715=)
c.*5352_*5353delinsCA (n.*5352_*5353delinsCA)
c.*83_*84delinsCA (n.*83_*84delinsCA)
c.499_500delinsCA (p.Gln167=)
c.1042_1043delinsCA (p.Gln348=)
c.268_269delinsCA (p.Gln90=)
n.5705_5706delinsCA
n.5746_5747delinsCA
17g.43045700_43045713delinsTGGGGTATCAGGTACA2260761023BRCA1c.5554_5567delinsTACCTGATACCCCA (p.Tyr1852=)
c.5557_5570delinsTACCTGATACCCCA (p.Tyr1853=)
c.5431_5444delinsTACCTGATACCCCA (p.Tyr1811=)
c.5551_5564delinsTACCTGATACCCCA (p.Tyr1851=)
c.5479_5492delinsTACCTGATACCCCA (p.Tyr1827=)
c.2245_2258delinsTACCTGATACCCCA (p.Tyr749=)
c.2107_2120delinsTACCTGATACCCCA (p.Tyr703=)
c.4669_4682delinsTACCTGATACCCCA (p.Tyr1557=)
c.5434_5447delinsTACCTGATACCCCA (p.Tyr1812=)
c.5623_5636delinsTACCTGATACCCCA (p.Tyr1875=)
c.5416_5429delinsTACCTGATACCCCA (p.Tyr1806=)
c.2119_2132delinsTACCTGATACCCCA (p.Tyr707=)
n.1440_1453delinsTACCTGATACCCCA
n.921_934delinsTACCTGATACCCCA
c.5620_5633delinsTACCTGATACCCCA (p.Tyr1874=)
c.1944_1957delinsTACCTGATACCCCA
c.2131_2144delinsTACCTGATACCCCA (p.Tyr711=)
c.*5340_*5353delinsTACCTGATACCCCA (n.*5340_*5353delinsTACCTGATACCCCA)
c.*71_*84delinsTACCTGATACCCCA (n.*71_*84delinsTACCTGATACCCCA)
c.487_500delinsTACCTGATACCCCA (p.Tyr163=)
c.1030_1043delinsTACCTGATACCCCA (p.Tyr344=)
c.256_269delinsTACCTGATACCCCA (p.Tyr86=)
n.5693_5706delinsTACCTGATACCCCA
n.5734_5747delinsTACCTGATACCCCA
17g.43045701G>ACA10590186BRCA1c.5566C>T (p.Gln1856Ter)
c.5569C>T (p.Gln1857Ter)
c.5443C>T (p.Gln1815Ter)
c.5563C>T (p.Gln1855Ter)
c.5491C>T (p.Gln1831Ter)
c.2257C>T (p.Gln753Ter)
c.2119C>T (p.Gln707Ter)
c.4681C>T (p.Gln1561Ter)
c.5446C>T (p.Gln1816Ter)
c.5635C>T (p.Gln1879Ter)
c.5428C>T (p.Gln1810Ter)
c.2131C>T (p.Gln711Ter)
n.1452C>T
n.933C>T
c.5632C>T (p.Gln1878Ter)
c.1956C>T
c.2143C>T (p.Gln715Ter)
c.*5352C>T (n.*5352C>T)
c.*83C>T (n.*83C>T)
c.499C>T (p.Gln167Ter)
c.1042C>T (p.Gln348Ter)
c.268C>T (p.Gln90Ter)
n.5705C>T
n.5746C>T
 dbSNP
17g.43045701G>CCA10590187BRCA1c.5566C>G (p.Gln1856Glu)
c.5569C>G (p.Gln1857Glu)
c.5443C>G (p.Gln1815Glu)
c.5563C>G (p.Gln1855Glu)
c.5491C>G (p.Gln1831Glu)
c.2257C>G (p.Gln753Glu)
c.2119C>G (p.Gln707Glu)
c.4681C>G (p.Gln1561Glu)
c.5446C>G (p.Gln1816Glu)
c.5635C>G (p.Gln1879Glu)
c.5428C>G (p.Gln1810Glu)
c.2131C>G (p.Gln711Glu)
n.1452C>G
n.933C>G
c.5632C>G (p.Gln1878Glu)
c.1956C>G
c.2143C>G (p.Gln715Glu)
c.*5352C>G (n.*5352C>G)
c.*83C>G (n.*83C>G)
c.499C>G (p.Gln167Glu)
c.1042C>G (p.Gln348Glu)
c.268C>G (p.Gln90Glu)
n.5705C>G
n.5746C>G
 dbSNP
17g.43045701G>TCA10590188BRCA1c.5566C>A (p.Gln1856Lys)
c.5569C>A (p.Gln1857Lys)
c.5443C>A (p.Gln1815Lys)
c.5563C>A (p.Gln1855Lys)
c.5491C>A (p.Gln1831Lys)
c.2257C>A (p.Gln753Lys)
c.2119C>A (p.Gln707Lys)
c.4681C>A (p.Gln1561Lys)
c.5446C>A (p.Gln1816Lys)
c.5635C>A (p.Gln1879Lys)
c.5428C>A (p.Gln1810Lys)
c.2131C>A (p.Gln711Lys)
n.1452C>A
n.933C>A
c.5632C>A (p.Gln1878Lys)
c.1956C>A
c.2143C>A (p.Gln715Lys)
c.*5352C>A (n.*5352C>A)
c.*83C>A (n.*83C>A)
c.499C>A (p.Gln167Lys)
c.1042C>A (p.Gln348Lys)
c.268C>A (p.Gln90Lys)
n.5705C>A
n.5746C>A
 dbSNP
17g.43045704delCA10588652BRCA1c.5566del (p.Gln1856ArgfsTer?)
c.5569del (p.Gln1857ArgfsTer?)
c.5443del (p.Gln1815ArgfsTer?)
c.5563del (p.Gln1855ArgfsTer?)
c.5491del (p.Gln1831ArgfsTer?)
c.2257del (p.Gln753ArgfsTer?)
c.2119del (p.Gln707ArgfsTer?)
c.4681del (p.Gln1561ArgfsTer?)
c.5446del (p.Gln1816ArgfsTer?)
c.5635del (p.Gln1879ArgfsTer?)
c.5428del (p.Gln1810ArgfsTer?)
c.2131del (p.Gln711ArgfsTer?)
n.1452del
n.933del
c.5632del (p.Gln1878ArgfsTer?)
c.1956del
c.2143del (p.Gln715ArgfsTer?)
c.*5352del (n.*5352del)
c.*83del (n.*83del)
c.499del (p.Gln167ArgfsTer?)
c.1042del (p.Gln348ArgfsTer?)
c.268del (p.Gln90ArgfsTer?)
n.5705del
n.5746del
 ClinVar dbSNP
17g.43045703_43045715delCA1139665547BRCA1c.5554_5566del (p.Tyr1852ArgfsTer?)
c.5557_5569del (p.Tyr1853ArgfsTer?)
c.5431_5443del (p.Tyr1811ArgfsTer?)
c.5551_5563del (p.Tyr1851ArgfsTer?)
c.5479_5491del (p.Tyr1827ArgfsTer?)
c.2245_2257del (p.Tyr749ArgfsTer?)
c.2107_2119del (p.Tyr703ArgfsTer?)
c.4669_4681del (p.Tyr1557ArgfsTer?)
c.5434_5446del (p.Tyr1812ArgfsTer?)
c.5623_5635del (p.Tyr1875ArgfsTer?)
c.5416_5428del (p.Tyr1806ArgfsTer?)
c.2119_2131del (p.Tyr707ArgfsTer?)
n.1440_1452del
n.921_933del
c.5620_5632del (p.Tyr1874ArgfsTer?)
c.1944_1956del
c.2131_2143del (p.Tyr711ArgfsTer?)
c.*5340_*5352del (n.*5340_*5352del)
c.*71_*83del (n.*71_*83del)
c.487_499del (p.Tyr163ArgfsTer?)
c.1030_1042del (p.Tyr344ArgfsTer?)
c.256_268del (p.Tyr86ArgfsTer?)
n.5693_5705del
n.5734_5746del
 ClinVar dbSNP
17g.43045702G>ACA500142877BRCA1c.5565C>T (p.Pro1855=)
c.5568C>T (p.Pro1856=)
c.5442C>T (p.Pro1814=)
c.5562C>T (p.Pro1854=)
c.5490C>T (p.Pro1830=)
c.2256C>T (p.Pro752=)
c.2118C>T (p.Pro706=)
c.4680C>T (p.Pro1560=)
c.5445C>T (p.Pro1815=)
c.5634C>T (p.Pro1878=)
c.5427C>T (p.Pro1809=)
c.2130C>T (p.Pro710=)
n.1451C>T
n.932C>T
c.5631C>T (p.Pro1877=)
c.1955C>T
c.2142C>T (p.Pro714=)
c.*5351C>T (n.*5351C>T)
c.*82C>T (n.*82C>T)
c.498C>T (p.Pro166=)
c.1041C>T (p.Pro347=)
c.267C>T (p.Pro89=)
n.5704C>T
n.5745C>T
 dbSNP
17g.43045702G>CCA16615363BRCA1c.5565C>G (p.Pro1855=)
c.5568C>G (p.Pro1856=)
c.5442C>G (p.Pro1814=)
c.5562C>G (p.Pro1854=)
c.5490C>G (p.Pro1830=)
c.2256C>G (p.Pro752=)
c.2118C>G (p.Pro706=)
c.4680C>G (p.Pro1560=)
c.5445C>G (p.Pro1815=)
c.5634C>G (p.Pro1878=)
c.5427C>G (p.Pro1809=)
c.2130C>G (p.Pro710=)
n.1451C>G
n.932C>G
c.5631C>G (p.Pro1877=)
c.1955C>G
c.2142C>G (p.Pro714=)
c.*5351C>G (n.*5351C>G)
c.*82C>G (n.*82C>G)
c.498C>G (p.Pro166=)
c.1041C>G (p.Pro347=)
c.267C>G (p.Pro89=)
n.5704C>G
n.5745C>G
 ClinVar dbSNP
17g.43045702G=CA2260761024BRCA1c.5565C= (p.Pro1855=)
c.5568C= (p.Pro1856=)
c.5442C= (p.Pro1814=)
c.5562C= (p.Pro1854=)
c.5490C= (p.Pro1830=)
c.2256C= (p.Pro752=)
c.2118C= (p.Pro706=)
c.4680C= (p.Pro1560=)
c.5445C= (p.Pro1815=)
c.5634C= (p.Pro1878=)
c.5427C= (p.Pro1809=)
c.2130C= (p.Pro710=)
n.1451C=
n.932C=
c.5631C= (p.Pro1877=)
c.1955C=
c.2142C= (p.Pro714=)
c.*5351C= (n.*5351C=)
c.*82C= (n.*82C=)
c.498C= (p.Pro166=)
c.1041C= (p.Pro347=)
c.267C= (p.Pro89=)
n.5704C=
n.5745C=
17g.43045702G>TCA10580480BRCA1c.5565C>A (p.Pro1855=)
c.5568C>A (p.Pro1856=)
c.5442C>A (p.Pro1814=)
c.5562C>A (p.Pro1854=)
c.5490C>A (p.Pro1830=)
c.2256C>A (p.Pro752=)
c.2118C>A (p.Pro706=)
c.4680C>A (p.Pro1560=)
c.5445C>A (p.Pro1815=)
c.5634C>A (p.Pro1878=)
c.5427C>A (p.Pro1809=)
c.2130C>A (p.Pro710=)
n.1451C>A
n.932C>A
c.5631C>A (p.Pro1877=)
c.1955C>A
c.2142C>A (p.Pro714=)
c.*5351C>A (n.*5351C>A)
c.*82C>A (n.*82C>A)
c.498C>A (p.Pro166=)
c.1041C>A (p.Pro347=)
c.267C>A (p.Pro89=)
n.5704C>A
n.5745C>A
 ClinVar dbSNP
17g.43045703G>ACA10590189BRCA1c.5564C>T (p.Pro1855Leu)
c.5567C>T (p.Pro1856Leu)
c.5441C>T (p.Pro1814Leu)
c.5561C>T (p.Pro1854Leu)
c.5489C>T (p.Pro1830Leu)
c.2255C>T (p.Pro752Leu)
c.2117C>T (p.Pro706Leu)
c.4679C>T (p.Pro1560Leu)
c.5444C>T (p.Pro1815Leu)
c.5633C>T (p.Pro1878Leu)
c.5426C>T (p.Pro1809Leu)
c.2129C>T (p.Pro710Leu)
n.1450C>T
n.931C>T
c.5630C>T (p.Pro1877Leu)
c.1954C>T
c.2141C>T (p.Pro714Leu)
c.*5350C>T (n.*5350C>T)
c.*81C>T (n.*81C>T)
c.497C>T (p.Pro166Leu)
c.1040C>T (p.Pro347Leu)
c.266C>T (p.Pro89Leu)
n.5703C>T
n.5744C>T
 ClinVar dbSNP
17g.43045703G>CCA10590190BRCA1c.5564C>G (p.Pro1855Arg)
c.5567C>G (p.Pro1856Arg)
c.5441C>G (p.Pro1814Arg)
c.5561C>G (p.Pro1854Arg)
c.5489C>G (p.Pro1830Arg)
c.2255C>G (p.Pro752Arg)
c.2117C>G (p.Pro706Arg)
c.4679C>G (p.Pro1560Arg)
c.5444C>G (p.Pro1815Arg)
c.5633C>G (p.Pro1878Arg)
c.5426C>G (p.Pro1809Arg)
c.2129C>G (p.Pro710Arg)
n.1450C>G
n.931C>G
c.5630C>G (p.Pro1877Arg)
c.1954C>G
c.2141C>G (p.Pro714Arg)
c.*5350C>G (n.*5350C>G)
c.*81C>G (n.*81C>G)
c.497C>G (p.Pro166Arg)
c.1040C>G (p.Pro347Arg)
c.266C>G (p.Pro89Arg)
n.5703C>G
n.5744C>G
 dbSNP
17g.43045703G=CA2260761025BRCA1c.5564C= (p.Pro1855=)
c.5567C= (p.Pro1856=)
c.5441C= (p.Pro1814=)
c.5561C= (p.Pro1854=)
c.5489C= (p.Pro1830=)
c.2255C= (p.Pro752=)
c.2117C= (p.Pro706=)
c.4679C= (p.Pro1560=)
c.5444C= (p.Pro1815=)
c.5633C= (p.Pro1878=)
c.5426C= (p.Pro1809=)
c.2129C= (p.Pro710=)
n.1450C=
n.931C=
c.5630C= (p.Pro1877=)
c.1954C=
c.2141C= (p.Pro714=)
c.*5350C= (n.*5350C=)
c.*81C= (n.*81C=)
c.497C= (p.Pro166=)
c.1040C= (p.Pro347=)
c.266C= (p.Pro89=)
n.5703C=
n.5744C=
17g.43045703G>TCA10590191BRCA1c.5564C>A (p.Pro1855His)
c.5567C>A (p.Pro1856His)
c.5441C>A (p.Pro1814His)
c.5561C>A (p.Pro1854His)
c.5489C>A (p.Pro1830His)
c.2255C>A (p.Pro752His)
c.2117C>A (p.Pro706His)
c.4679C>A (p.Pro1560His)
c.5444C>A (p.Pro1815His)
c.5633C>A (p.Pro1878His)
c.5426C>A (p.Pro1809His)
c.2129C>A (p.Pro710His)
n.1450C>A
n.931C>A
c.5630C>A (p.Pro1877His)
c.1954C>A
c.2141C>A (p.Pro714His)
c.*5350C>A (n.*5350C>A)
c.*81C>A (n.*81C>A)
c.497C>A (p.Pro166His)
c.1040C>A (p.Pro347His)
c.266C>A (p.Pro89His)
n.5703C>A
n.5744C>A
 dbSNP
17g.43045704G>ACA003722BRCA1c.5563C>T (p.Pro1855Ser)
c.5566C>T (p.Pro1856Ser)
c.5440C>T (p.Pro1814Ser)
c.5560C>T (p.Pro1854Ser)
c.5488C>T (p.Pro1830Ser)
c.2254C>T (p.Pro752Ser)
c.2116C>T (p.Pro706Ser)
c.4678C>T (p.Pro1560Ser)
c.5443C>T (p.Pro1815Ser)
c.5632C>T (p.Pro1878Ser)
c.5425C>T (p.Pro1809Ser)
c.2128C>T (p.Pro710Ser)
n.1449C>T
n.930C>T
c.5629C>T (p.Pro1877Ser)
c.1953C>T
c.2140C>T (p.Pro714Ser)
c.*5349C>T (n.*5349C>T)
c.*80C>T (n.*80C>T)
c.496C>T (p.Pro166Ser)
c.1039C>T (p.Pro347Ser)
c.265C>T (p.Pro89Ser)
n.5702C>T
n.5743C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045704G>CCA10590192BRCA1c.5563C>G (p.Pro1855Ala)
c.5566C>G (p.Pro1856Ala)
c.5440C>G (p.Pro1814Ala)
c.5560C>G (p.Pro1854Ala)
c.5488C>G (p.Pro1830Ala)
c.2254C>G (p.Pro752Ala)
c.2116C>G (p.Pro706Ala)
c.4678C>G (p.Pro1560Ala)
c.5443C>G (p.Pro1815Ala)
c.5632C>G (p.Pro1878Ala)
c.5425C>G (p.Pro1809Ala)
c.2128C>G (p.Pro710Ala)
n.1449C>G
n.930C>G
c.5629C>G (p.Pro1877Ala)
c.1953C>G
c.2140C>G (p.Pro714Ala)
c.*5349C>G (n.*5349C>G)
c.*80C>G (n.*80C>G)
c.496C>G (p.Pro166Ala)
c.1039C>G (p.Pro347Ala)
c.265C>G (p.Pro89Ala)
n.5702C>G
n.5743C>G
 ClinVar dbSNP
17g.43045704G=CA2260761026BRCA1c.5563C= (p.Pro1855=)
c.5566C= (p.Pro1856=)
c.5440C= (p.Pro1814=)
c.5560C= (p.Pro1854=)
c.5488C= (p.Pro1830=)
c.2254C= (p.Pro752=)
c.2116C= (p.Pro706=)
c.4678C= (p.Pro1560=)
c.5443C= (p.Pro1815=)
c.5632C= (p.Pro1878=)
c.5425C= (p.Pro1809=)
c.2128C= (p.Pro710=)
n.1449C=
n.930C=
c.5629C= (p.Pro1877=)
c.1953C=
c.2140C= (p.Pro714=)
c.*5349C= (n.*5349C=)
c.*80C= (n.*80C=)
c.496C= (p.Pro166=)
c.1039C= (p.Pro347=)
c.265C= (p.Pro89=)
n.5702C=
n.5743C=
17g.43045704G>TCA10590193BRCA1c.5563C>A (p.Pro1855Thr)
c.5566C>A (p.Pro1856Thr)
c.5440C>A (p.Pro1814Thr)
c.5560C>A (p.Pro1854Thr)
c.5488C>A (p.Pro1830Thr)
c.2254C>A (p.Pro752Thr)
c.2116C>A (p.Pro706Thr)
c.4678C>A (p.Pro1560Thr)
c.5443C>A (p.Pro1815Thr)
c.5632C>A (p.Pro1878Thr)
c.5425C>A (p.Pro1809Thr)
c.2128C>A (p.Pro710Thr)
n.1449C>A
n.930C>A
c.5629C>A (p.Pro1877Thr)
c.1953C>A
c.2140C>A (p.Pro714Thr)
c.*5349C>A (n.*5349C>A)
c.*80C>A (n.*80C>A)
c.496C>A (p.Pro166Thr)
c.1039C>A (p.Pro347Thr)
c.265C>A (p.Pro89Thr)
n.5702C>A
n.5743C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045705T>ACA500142878BRCA1c.5562A>T (p.Ile1854=)
c.5565A>T (p.Ile1855=)
c.5439A>T (p.Ile1813=)
c.5559A>T (p.Ile1853=)
c.5487A>T (p.Ile1829=)
c.2253A>T (p.Ile751=)
c.2115A>T (p.Ile705=)
c.4677A>T (p.Ile1559=)
c.5442A>T (p.Ile1814=)
c.5631A>T (p.Ile1877=)
c.5424A>T (p.Ile1808=)
c.2127A>T (p.Ile709=)
n.1448A>T
n.929A>T
c.5628A>T (p.Ile1876=)
c.1952A>T
c.2139A>T (p.Ile713=)
c.*5348A>T (n.*5348A>T)
c.*79A>T (n.*79A>T)
c.495A>T (p.Ile165=)
c.1038A>T (p.Ile346=)
c.264A>T (p.Ile88=)
n.5701A>T
n.5742A>T
 ClinVar dbSNP gnomAD v4
17g.43045705T>CCA10590194BRCA1c.5562A>G (p.Ile1854Met)
c.5565A>G (p.Ile1855Met)
c.5439A>G (p.Ile1813Met)
c.5559A>G (p.Ile1853Met)
c.5487A>G (p.Ile1829Met)
c.2253A>G (p.Ile751Met)
c.2115A>G (p.Ile705Met)
c.4677A>G (p.Ile1559Met)
c.5442A>G (p.Ile1814Met)
c.5631A>G (p.Ile1877Met)
c.5424A>G (p.Ile1808Met)
c.2127A>G (p.Ile709Met)
n.1448A>G
n.929A>G
c.5628A>G (p.Ile1876Met)
c.1952A>G
c.2139A>G (p.Ile713Met)
c.*5348A>G (n.*5348A>G)
c.*79A>G (n.*79A>G)
c.495A>G (p.Ile165Met)
c.1038A>G (p.Ile346Met)
c.264A>G (p.Ile88Met)
n.5701A>G
n.5742A>G
 ClinVar dbSNP
17g.43045705T>GCA055363BRCA1c.5562A>C (p.Ile1854=)
c.5565A>C (p.Ile1855=)
c.5439A>C (p.Ile1813=)
c.5559A>C (p.Ile1853=)
c.5487A>C (p.Ile1829=)
c.2253A>C (p.Ile751=)
c.2115A>C (p.Ile705=)
c.4677A>C (p.Ile1559=)
c.5442A>C (p.Ile1814=)
c.5631A>C (p.Ile1877=)
c.5424A>C (p.Ile1808=)
c.2127A>C (p.Ile709=)
n.1448A>C
n.929A>C
c.5628A>C (p.Ile1876=)
c.1952A>C
c.2139A>C (p.Ile713=)
c.*5348A>C (n.*5348A>C)
c.*79A>C (n.*79A>C)
c.495A>C (p.Ile165=)
c.1038A>C (p.Ile346=)
c.264A>C (p.Ile88=)
n.5701A>C
n.5742A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045705T=CA2260761029BRCA1c.5562A= (p.Ile1854=)
c.5565A= (p.Ile1855=)
c.5439A= (p.Ile1813=)
c.5559A= (p.Ile1853=)
c.5487A= (p.Ile1829=)
c.2253A= (p.Ile751=)
c.2115A= (p.Ile705=)
c.4677A= (p.Ile1559=)
c.5442A= (p.Ile1814=)
c.5631A= (p.Ile1877=)
c.5424A= (p.Ile1808=)
c.2127A= (p.Ile709=)
n.1448A=
n.929A=
c.5628A= (p.Ile1876=)
c.1952A=
c.2139A= (p.Ile713=)
c.*5348A= (n.*5348A=)
c.*79A= (n.*79A=)
c.495A= (p.Ile165=)
c.1038A= (p.Ile346=)
c.264A= (p.Ile88=)
n.5701A=
n.5742A=
17g.43045705_43045706delinsTACA2260761027BRCA1c.5561_5562delinsTA (p.Ile1854=)
c.5564_5565delinsTA (p.Ile1855=)
c.5438_5439delinsTA (p.Ile1813=)
c.5558_5559delinsTA (p.Ile1853=)
c.5486_5487delinsTA (p.Ile1829=)
c.2252_2253delinsTA (p.Ile751=)
c.2114_2115delinsTA (p.Ile705=)
c.4676_4677delinsTA (p.Ile1559=)
c.5441_5442delinsTA (p.Ile1814=)
c.5630_5631delinsTA (p.Ile1877=)
c.5423_5424delinsTA (p.Ile1808=)
c.2126_2127delinsTA (p.Ile709=)
n.1447_1448delinsTA
n.928_929delinsTA
c.5627_5628delinsTA (p.Ile1876=)
c.1951_1952delinsTA
c.2138_2139delinsTA (p.Ile713=)
c.*5347_*5348delinsTA (n.*5347_*5348delinsTA)
c.*78_*79delinsTA (n.*78_*79delinsTA)
c.494_495delinsTA (p.Ile165=)
c.1037_1038delinsTA (p.Ile346=)
c.263_264delinsTA (p.Ile88=)
n.5700_5701delinsTA
n.5741_5742delinsTA
17g.43045705_43045767delinsTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCGCA2260761028BRCA1c.5500_5562delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1834=)
c.5503_5565delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1835=)
c.5377_5439delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1793=)
c.5497_5559delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1833=)
c.5425_5487delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1809=)
c.2191_2253delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg731=)
c.2053_2115delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg685=)
c.4615_4677delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1539=)
c.5380_5442delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1794=)
c.5569_5631delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1857=)
c.5362_5424delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1788=)
c.2065_2127delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg689=)
n.1386_1448delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
n.867_929delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
c.5566_5628delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg1856=)
c.1890_1952delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
c.2077_2139delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg693=)
c.*5286_*5348delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (n.*5286_*5348delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA)
c.*17_*79delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (n.*17_*79delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA)
c.433_495delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg145=)
c.976_1038delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg326=)
c.202_264delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA (p.Arg68=)
n.5639_5701delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
n.5680_5742delinsCGAGAGTGGGTGTTGGACAGTGTAGCACTCTACCAGTGCCAGGAGCTGGACACCTACCTGATA
17g.43045706delCA658684035BRCA1c.5561del (p.Ile1854AsnfsTer?)
c.5564del (p.Ile1855AsnfsTer?)
c.5438del (p.Ile1813AsnfsTer?)
c.5558del (p.Ile1853AsnfsTer?)
c.5486del (p.Ile1829AsnfsTer?)
c.2252del (p.Ile751AsnfsTer?)
c.2114del (p.Ile705AsnfsTer?)
c.4676del (p.Ile1559AsnfsTer?)
c.5441del (p.Ile1814AsnfsTer?)
c.5630del (p.Ile1877AsnfsTer?)
c.5423del (p.Ile1808AsnfsTer?)
c.2126del (p.Ile709AsnfsTer?)
n.1447del
n.928del
c.5627del (p.Ile1876AsnfsTer?)
c.1951del
c.2138del (p.Ile713AsnfsTer?)
c.*5347del (n.*5347del)
c.*78del (n.*78del)
c.494del (p.Ile165AsnfsTer?)
c.1037del (p.Ile346AsnfsTer?)
c.263del (p.Ile88AsnfsTer?)
n.5700del
n.5741del
 ClinVar dbSNP
17g.43045706A=CA2260761031BRCA1c.5561T= (p.Ile1854=)
c.5564T= (p.Ile1855=)
c.5438T= (p.Ile1813=)
c.5558T= (p.Ile1853=)
c.5486T= (p.Ile1829=)
c.2252T= (p.Ile751=)
c.2114T= (p.Ile705=)
c.4676T= (p.Ile1559=)
c.5441T= (p.Ile1814=)
c.5630T= (p.Ile1877=)
c.5423T= (p.Ile1808=)
c.2126T= (p.Ile709=)
n.1447T=
n.928T=
c.5627T= (p.Ile1876=)
c.1951T=
c.2138T= (p.Ile713=)
c.*5347T= (n.*5347T=)
c.*78T= (n.*78T=)
c.494T= (p.Ile165=)
c.1037T= (p.Ile346=)
c.263T= (p.Ile88=)
n.5700T=
n.5741T=
17g.43045706A>CCA10590195BRCA1c.5561T>G (p.Ile1854Arg)
c.5564T>G (p.Ile1855Arg)
c.5438T>G (p.Ile1813Arg)
c.5558T>G (p.Ile1853Arg)
c.5486T>G (p.Ile1829Arg)
c.2252T>G (p.Ile751Arg)
c.2114T>G (p.Ile705Arg)
c.4676T>G (p.Ile1559Arg)
c.5441T>G (p.Ile1814Arg)
c.5630T>G (p.Ile1877Arg)
c.5423T>G (p.Ile1808Arg)
c.2126T>G (p.Ile709Arg)
n.1447T>G
n.928T>G
c.5627T>G (p.Ile1876Arg)
c.1951T>G
c.2138T>G (p.Ile713Arg)
c.*5347T>G (n.*5347T>G)
c.*78T>G (n.*78T>G)
c.494T>G (p.Ile165Arg)
c.1037T>G (p.Ile346Arg)
c.263T>G (p.Ile88Arg)
n.5700T>G
n.5741T>G
 ClinVar dbSNP
17g.43045706A>GCA10590196BRCA1c.5561T>C (p.Ile1854Thr)
c.5564T>C (p.Ile1855Thr)
c.5438T>C (p.Ile1813Thr)
c.5558T>C (p.Ile1853Thr)
c.5486T>C (p.Ile1829Thr)
c.2252T>C (p.Ile751Thr)
c.2114T>C (p.Ile705Thr)
c.4676T>C (p.Ile1559Thr)
c.5441T>C (p.Ile1814Thr)
c.5630T>C (p.Ile1877Thr)
c.5423T>C (p.Ile1808Thr)
c.2126T>C (p.Ile709Thr)
n.1447T>C
n.928T>C
c.5627T>C (p.Ile1876Thr)
c.1951T>C
c.2138T>C (p.Ile713Thr)
c.*5347T>C (n.*5347T>C)
c.*78T>C (n.*78T>C)
c.494T>C (p.Ile165Thr)
c.1037T>C (p.Ile346Thr)
c.263T>C (p.Ile88Thr)
n.5700T>C
n.5741T>C
 ClinVar dbSNP
17g.43045706A>TCA10590197BRCA1c.5561T>A (p.Ile1854Lys)
c.5564T>A (p.Ile1855Lys)
c.5438T>A (p.Ile1813Lys)
c.5558T>A (p.Ile1853Lys)
c.5486T>A (p.Ile1829Lys)
c.2252T>A (p.Ile751Lys)
c.2114T>A (p.Ile705Lys)
c.4676T>A (p.Ile1559Lys)
c.5441T>A (p.Ile1814Lys)
c.5630T>A (p.Ile1877Lys)
c.5423T>A (p.Ile1808Lys)
c.2126T>A (p.Ile709Lys)
n.1447T>A
n.928T>A
c.5627T>A (p.Ile1876Lys)
c.1951T>A
c.2138T>A (p.Ile713Lys)
c.*5347T>A (n.*5347T>A)
c.*78T>A (n.*78T>A)
c.494T>A (p.Ile165Lys)
c.1037T>A (p.Ile346Lys)
c.263T>A (p.Ile88Lys)
n.5700T>A
n.5741T>A
 ClinVar dbSNP
17g.43045706_43045707insGGACA2638036267BRCA1c.5561_5562insCCT (p.Ile1854_Pro1855insLeu)
c.5564_5565insCCT (p.Ile1855_Pro1856insLeu)
c.5438_5439insCCT (p.Ile1813_Pro1814insLeu)
c.5558_5559insCCT (p.Ile1853_Pro1854insLeu)
c.5486_5487insCCT (p.Ile1829_Pro1830insLeu)
c.2252_2253insCCT (p.Ile751_Pro752insLeu)
c.2114_2115insCCT (p.Ile705_Pro706insLeu)
c.4676_4677insCCT (p.Ile1559_Pro1560insLeu)
c.5441_5442insCCT (p.Ile1814_Pro1815insLeu)
c.5630_5631insCCT (p.Ile1877_Pro1878insLeu)
c.5423_5424insCCT (p.Ile1808_Pro1809insLeu)
c.2126_2127insCCT (p.Ile709_Pro710insLeu)
n.1447_1448insCCT
n.928_929insCCT
c.5627_5628insCCT (p.Ile1876_Pro1877insLeu)
c.1951_1952insCCT
c.2138_2139insCCT (p.Ile713_Pro714insLeu)
c.*5347_*5348insCCT (n.*5347_*5348insCCT)
c.*78_*79insCCT (n.*78_*79insCCT)
c.494_495insCCT (p.Ile165_Pro166insLeu)
c.1037_1038insCCT (p.Ile346_Pro347insLeu)
c.263_264insCCT (p.Ile88_Pro89insLeu)
n.5700_5701insCCT
n.5741_5742insCCT
 gnomAD v4
17g.43045706_43045707delinsATCA2260761030BRCA1c.5560_5561delinsAT (p.Ile1854=)
c.5563_5564delinsAT (p.Ile1855=)
c.5437_5438delinsAT (p.Ile1813=)
c.5557_5558delinsAT (p.Ile1853=)
c.5485_5486delinsAT (p.Ile1829=)
c.2251_2252delinsAT (p.Ile751=)
c.2113_2114delinsAT (p.Ile705=)
c.4675_4676delinsAT (p.Ile1559=)
c.5440_5441delinsAT (p.Ile1814=)
c.5629_5630delinsAT (p.Ile1877=)
c.5422_5423delinsAT (p.Ile1808=)
c.2125_2126delinsAT (p.Ile709=)
n.1446_1447delinsAT
n.927_928delinsAT
c.5626_5627delinsAT (p.Ile1876=)
c.1950_1951delinsAT
c.2137_2138delinsAT (p.Ile713=)
c.*5346_*5347delinsAT (n.*5346_*5347delinsAT)
c.*77_*78delinsAT (n.*77_*78delinsAT)
c.493_494delinsAT (p.Ile165=)
c.1036_1037delinsAT (p.Ile346=)
c.262_263delinsAT (p.Ile88=)
n.5699_5700delinsAT
n.5740_5741delinsAT
17g.43045706_43045767delCA003672BRCA1c.5500_5561del (p.Arg1834ThrfsTer24)
c.5503_5564del (p.Arg1835ThrfsTer24)
c.5377_5438del (p.Arg1793ThrfsTer24)
c.5497_5558del (p.Arg1833ThrfsTer24)
c.5425_5486del (p.Arg1809ThrfsTer24)
c.2191_2252del (p.Arg731ThrfsTer24)
c.2053_2114del (p.Arg685ThrfsTer24)
c.4615_4676del (p.Arg1539ThrfsTer24)
c.5380_5441del (p.Arg1794ThrfsTer24)
c.5569_5630del (p.Arg1857ThrfsTer24)
c.5362_5423del (p.Arg1788ThrfsTer24)
c.2065_2126del (p.Arg689ThrfsTer24)
n.1386_1447del
n.867_928del
c.5566_5627del (p.Arg1856ThrfsTer24)
c.1890_1951del
c.2077_2138del (p.Arg693ThrfsTer24)
c.*5286_*5347del (n.*5286_*5347del)
c.*17_*78del (n.*17_*78del)
c.2191_2252del (p.Arg731ThrfsTer?)
c.433_494del (p.Arg145ThrfsTer24)
c.976_1037del (p.Arg326ThrfsTer24)
c.202_263del (p.Arg68ThrfsTer24)
n.5639_5700del
n.5680_5741del
 ClinVar dbSNP
17g.43045707T>ACA10590198BRCA1c.5560A>T (p.Ile1854Leu)
c.5563A>T (p.Ile1855Leu)
c.5437A>T (p.Ile1813Leu)
c.5557A>T (p.Ile1853Leu)
c.5485A>T (p.Ile1829Leu)
c.2251A>T (p.Ile751Leu)
c.2113A>T (p.Ile705Leu)
c.4675A>T (p.Ile1559Leu)
c.5440A>T (p.Ile1814Leu)
c.5629A>T (p.Ile1877Leu)
c.5422A>T (p.Ile1808Leu)
c.2125A>T (p.Ile709Leu)
n.1446A>T
n.927A>T
c.5626A>T (p.Ile1876Leu)
c.1950A>T
c.2137A>T (p.Ile713Leu)
c.*5346A>T (n.*5346A>T)
c.*77A>T (n.*77A>T)
c.493A>T (p.Ile165Leu)
c.1036A>T (p.Ile346Leu)
c.262A>T (p.Ile88Leu)
n.5699A>T
n.5740A>T
 ClinVar dbSNP
17g.43045707T>CCA10590199BRCA1c.5560A>G (p.Ile1854Val)
c.5563A>G (p.Ile1855Val)
c.5437A>G (p.Ile1813Val)
c.5557A>G (p.Ile1853Val)
c.5485A>G (p.Ile1829Val)
c.2251A>G (p.Ile751Val)
c.2113A>G (p.Ile705Val)
c.4675A>G (p.Ile1559Val)
c.5440A>G (p.Ile1814Val)
c.5629A>G (p.Ile1877Val)
c.5422A>G (p.Ile1808Val)
c.2125A>G (p.Ile709Val)
n.1446A>G
n.927A>G
c.5626A>G (p.Ile1876Val)
c.1950A>G
c.2137A>G (p.Ile713Val)
c.*5346A>G (n.*5346A>G)
c.*77A>G (n.*77A>G)
c.493A>G (p.Ile165Val)
c.1036A>G (p.Ile346Val)
c.262A>G (p.Ile88Val)
n.5699A>G
n.5740A>G
 ClinVar dbSNP
17g.43045707T>GCA10590200BRCA1c.5560A>C (p.Ile1854Leu)
c.5563A>C (p.Ile1855Leu)
c.5437A>C (p.Ile1813Leu)
c.5557A>C (p.Ile1853Leu)
c.5485A>C (p.Ile1829Leu)
c.2251A>C (p.Ile751Leu)
c.2113A>C (p.Ile705Leu)
c.4675A>C (p.Ile1559Leu)
c.5440A>C (p.Ile1814Leu)
c.5629A>C (p.Ile1877Leu)
c.5422A>C (p.Ile1808Leu)
c.2125A>C (p.Ile709Leu)
n.1446A>C
n.927A>C
c.5626A>C (p.Ile1876Leu)
c.1950A>C
c.2137A>C (p.Ile713Leu)
c.*5346A>C (n.*5346A>C)
c.*77A>C (n.*77A>C)
c.493A>C (p.Ile165Leu)
c.1036A>C (p.Ile346Leu)
c.262A>C (p.Ile88Leu)
n.5699A>C
n.5740A>C
 ClinVar dbSNP
17g.43045707T=CA2260761033BRCA1c.5560A= (p.Ile1854=)
c.5563A= (p.Ile1855=)
c.5437A= (p.Ile1813=)
c.5557A= (p.Ile1853=)
c.5485A= (p.Ile1829=)
c.2251A= (p.Ile751=)
c.2113A= (p.Ile705=)
c.4675A= (p.Ile1559=)
c.5440A= (p.Ile1814=)
c.5629A= (p.Ile1877=)
c.5422A= (p.Ile1808=)
c.2125A= (p.Ile709=)
n.1446A=
n.927A=
c.5626A= (p.Ile1876=)
c.1950A=
c.2137A= (p.Ile713=)
c.*5346A= (n.*5346A=)
c.*77A= (n.*77A=)
c.493A= (p.Ile165=)
c.1036A= (p.Ile346=)
c.262A= (p.Ile88=)
n.5699A=
n.5740A=
17g.43045707delinsGGATCCCA915950023BRCA1c.5560delinsGGATCC (p.Ile1854GlyfsTer?)
c.5563delinsGGATCC (p.Ile1855GlyfsTer?)
c.5437delinsGGATCC (p.Ile1813GlyfsTer?)
c.5557delinsGGATCC (p.Ile1853GlyfsTer?)
c.5485delinsGGATCC (p.Ile1829GlyfsTer?)
c.2251delinsGGATCC (p.Ile751GlyfsTer?)
c.2113delinsGGATCC (p.Ile705GlyfsTer?)
c.4675delinsGGATCC (p.Ile1559GlyfsTer?)
c.5440delinsGGATCC (p.Ile1814GlyfsTer?)
c.5629delinsGGATCC (p.Ile1877GlyfsTer?)
c.5422delinsGGATCC (p.Ile1808GlyfsTer?)
c.2125delinsGGATCC (p.Ile709GlyfsTer?)
n.1446delinsGGATCC
n.927delinsGGATCC
c.5626delinsGGATCC (p.Ile1876GlyfsTer?)
c.1950delinsGGATCC
c.2137delinsGGATCC (p.Ile713GlyfsTer?)
c.*5346delinsGGATCC (n.*5346delinsGGATCC)
c.*77delinsGGATCC (n.*77delinsGGATCC)
c.493delinsGGATCC (p.Ile165GlyfsTer?)
c.1036delinsGGATCC (p.Ile346GlyfsTer?)
c.262delinsGGATCC (p.Ile88GlyfsTer?)
n.5699delinsGGATCC
n.5740delinsGGATCC
 ClinVar dbSNP
17g.43045707_43045708delinsTCCA2260761032BRCA1c.5559_5560delinsGA (p.Leu1853=)
c.5562_5563delinsGA (p.Leu1854=)
c.5436_5437delinsGA (p.Leu1812=)
c.5556_5557delinsGA (p.Leu1852=)
c.5484_5485delinsGA (p.Leu1828=)
c.2250_2251delinsGA (p.Leu750=)
c.2112_2113delinsGA (p.Leu704=)
c.4674_4675delinsGA (p.Leu1558=)
c.5439_5440delinsGA (p.Leu1813=)
c.5628_5629delinsGA (p.Leu1876=)
c.5421_5422delinsGA (p.Leu1807=)
c.2124_2125delinsGA (p.Leu708=)
n.1445_1446delinsGA
n.926_927delinsGA
c.5625_5626delinsGA (p.Leu1875=)
c.1949_1950delinsGA
c.2136_2137delinsGA (p.Leu712=)
c.*5345_*5346delinsGA (n.*5345_*5346delinsGA)
c.*76_*77delinsGA (n.*76_*77delinsGA)
c.492_493delinsGA (p.Leu164=)
c.1035_1036delinsGA (p.Leu345=)
c.261_262delinsGA (p.Leu87=)
n.5698_5699delinsGA
n.5739_5740delinsGA
17g.43045708delCA10575938BRCA1c.5559del (p.Ile1854TyrfsTer?)
c.5562del (p.Ile1855TyrfsTer?)
c.5436del (p.Ile1813TyrfsTer?)
c.5556del (p.Ile1853TyrfsTer?)
c.5484del (p.Ile1829TyrfsTer?)
c.2250del (p.Ile751TyrfsTer?)
c.2112del (p.Ile705TyrfsTer?)
c.4674del (p.Ile1559TyrfsTer?)
c.5439del (p.Ile1814TyrfsTer?)
c.5628del (p.Ile1877TyrfsTer?)
c.5421del (p.Ile1808TyrfsTer?)
c.2124del (p.Ile709TyrfsTer?)
n.1445del
n.926del
c.5625del (p.Ile1876TyrfsTer?)
c.1949del
c.2136del (p.Ile713TyrfsTer?)
c.*5345del (n.*5345del)
c.*76del (n.*76del)
c.492del (p.Ile165TyrfsTer?)
c.1035del (p.Ile346TyrfsTer?)
c.261del (p.Ile88TyrfsTer?)
n.5698del
n.5739del
 ClinVar dbSNP
17g.43045708C>ACA500142879BRCA1c.5559G>T (p.Leu1853=)
c.5562G>T (p.Leu1854=)
c.5436G>T (p.Leu1812=)
c.5556G>T (p.Leu1852=)
c.5484G>T (p.Leu1828=)
c.2250G>T (p.Leu750=)
c.2112G>T (p.Leu704=)
c.4674G>T (p.Leu1558=)
c.5439G>T (p.Leu1813=)
c.5628G>T (p.Leu1876=)
c.5421G>T (p.Leu1807=)
c.2124G>T (p.Leu708=)
n.1445G>T
n.926G>T
c.5625G>T (p.Leu1875=)
c.1949G>T
c.2136G>T (p.Leu712=)
c.*5345G>T (n.*5345G>T)
c.*76G>T (n.*76G>T)
c.492G>T (p.Leu164=)
c.1035G>T (p.Leu345=)
c.261G>T (p.Leu87=)
n.5698G>T
n.5739G>T
 ClinVar dbSNP
17g.43045708C=CA2260761034BRCA1c.5559G= (p.Leu1853=)
c.5562G= (p.Leu1854=)
c.5436G= (p.Leu1812=)
c.5556G= (p.Leu1852=)
c.5484G= (p.Leu1828=)
c.2250G= (p.Leu750=)
c.2112G= (p.Leu704=)
c.4674G= (p.Leu1558=)
c.5439G= (p.Leu1813=)
c.5628G= (p.Leu1876=)
c.5421G= (p.Leu1807=)
c.2124G= (p.Leu708=)
n.1445G=
n.926G=
c.5625G= (p.Leu1875=)
c.1949G=
c.2136G= (p.Leu712=)
c.*5345G= (n.*5345G=)
c.*76G= (n.*76G=)
c.492G= (p.Leu164=)
c.1035G= (p.Leu345=)
c.261G= (p.Leu87=)
n.5698G=
n.5739G=
17g.43045708C>GCA500142880BRCA1c.5559G>C (p.Leu1853=)
c.5562G>C (p.Leu1854=)
c.5436G>C (p.Leu1812=)
c.5556G>C (p.Leu1852=)
c.5484G>C (p.Leu1828=)
c.2250G>C (p.Leu750=)
c.2112G>C (p.Leu704=)
c.4674G>C (p.Leu1558=)
c.5439G>C (p.Leu1813=)
c.5628G>C (p.Leu1876=)
c.5421G>C (p.Leu1807=)
c.2124G>C (p.Leu708=)
n.1445G>C
n.926G>C
c.5625G>C (p.Leu1875=)
c.1949G>C
c.2136G>C (p.Leu712=)
c.*5345G>C (n.*5345G>C)
c.*76G>C (n.*76G>C)
c.492G>C (p.Leu164=)
c.1035G>C (p.Leu345=)
c.261G>C (p.Leu87=)
n.5698G>C
n.5739G>C
 ClinVar dbSNP gnomAD v4
17g.43045708C>TCA003719BRCA1c.5559G>A (p.Leu1853=)
c.5562G>A (p.Leu1854=)
c.5436G>A (p.Leu1812=)
c.5556G>A (p.Leu1852=)
c.5484G>A (p.Leu1828=)
c.2250G>A (p.Leu750=)
c.2112G>A (p.Leu704=)
c.4674G>A (p.Leu1558=)
c.5439G>A (p.Leu1813=)
c.5628G>A (p.Leu1876=)
c.5421G>A (p.Leu1807=)
c.2124G>A (p.Leu708=)
n.1445G>A
n.926G>A
c.5625G>A (p.Leu1875=)
c.1949G>A
c.2136G>A (p.Leu712=)
c.*5345G>A (n.*5345G>A)
c.*76G>A (n.*76G>A)
c.492G>A (p.Leu164=)
c.1035G>A (p.Leu345=)
c.261G>A (p.Leu87=)
n.5698G>A
n.5739G>A
 ClinVar dbSNP gnomAD v4
17g.43045708_43045709insCCCA2638036268BRCA1c.5559_5560insGG (p.Ile1854GlyfsTer?)
c.5562_5563insGG (p.Ile1855GlyfsTer?)
c.5436_5437insGG (p.Ile1813GlyfsTer?)
c.5556_5557insGG (p.Ile1853GlyfsTer?)
c.5484_5485insGG (p.Ile1829GlyfsTer?)
c.2250_2251insGG (p.Ile751GlyfsTer?)
c.2112_2113insGG (p.Ile705GlyfsTer?)
c.4674_4675insGG (p.Ile1559GlyfsTer?)
c.5439_5440insGG (p.Ile1814GlyfsTer?)
c.5628_5629insGG (p.Ile1877GlyfsTer?)
c.5421_5422insGG (p.Ile1808GlyfsTer?)
c.2124_2125insGG (p.Ile709GlyfsTer?)
n.1445_1446insGG
n.926_927insGG
c.5625_5626insGG (p.Ile1876GlyfsTer?)
c.1949_1950insGG
c.2136_2137insGG (p.Ile713GlyfsTer?)
c.*5345_*5346insGG (n.*5345_*5346insGG)
c.*76_*77insGG (n.*76_*77insGG)
c.492_493insGG (p.Ile165GlyfsTer?)
c.1035_1036insGG (p.Ile346GlyfsTer?)
c.261_262insGG (p.Ile88GlyfsTer?)
n.5698_5699insGG
n.5739_5740insGG
 gnomAD v4
17g.43045709delCA2499224339BRCA1c.5558del (p.Leu1853ArgfsTer?)
c.5561del (p.Leu1854ArgfsTer?)
c.5435del (p.Leu1812ArgfsTer?)
c.5555del (p.Leu1852ArgfsTer?)
c.5483del (p.Leu1828ArgfsTer?)
c.2249del (p.Leu750ArgfsTer?)
c.2111del (p.Leu704ArgfsTer?)
c.4673del (p.Leu1558ArgfsTer?)
c.5438del (p.Leu1813ArgfsTer?)
c.5627del (p.Leu1876ArgfsTer?)
c.5420del (p.Leu1807ArgfsTer?)
c.2123del (p.Leu708ArgfsTer?)
n.1444del
n.925del
c.5624del (p.Leu1875ArgfsTer?)
c.1948del
c.2135del (p.Leu712ArgfsTer?)
c.*5344del (n.*5344del)
c.*75del (n.*75del)
c.491del (p.Leu164ArgfsTer?)
c.1034del (p.Leu345ArgfsTer?)
c.260del (p.Leu87ArgfsTer?)
n.5697del
n.5738del
 ClinVar dbSNP
17g.43045709A=CA2260761038BRCA1c.5558T= (p.Leu1853=)
c.5561T= (p.Leu1854=)
c.5435T= (p.Leu1812=)
c.5555T= (p.Leu1852=)
c.5483T= (p.Leu1828=)
c.2249T= (p.Leu750=)
c.2111T= (p.Leu704=)
c.4673T= (p.Leu1558=)
c.5438T= (p.Leu1813=)
c.5627T= (p.Leu1876=)
c.5420T= (p.Leu1807=)
c.2123T= (p.Leu708=)
n.1444T=
n.925T=
c.5624T= (p.Leu1875=)
c.1948T=
c.2135T= (p.Leu712=)
c.*5344T= (n.*5344T=)
c.*75T= (n.*75T=)
c.491T= (p.Leu164=)
c.1034T= (p.Leu345=)
c.260T= (p.Leu87=)
n.5697T=
n.5738T=
17g.43045709A>CCA10590201BRCA1c.5558T>G (p.Leu1853Arg)
c.5561T>G (p.Leu1854Arg)
c.5435T>G (p.Leu1812Arg)
c.5555T>G (p.Leu1852Arg)
c.5483T>G (p.Leu1828Arg)
c.2249T>G (p.Leu750Arg)
c.2111T>G (p.Leu704Arg)
c.4673T>G (p.Leu1558Arg)
c.5438T>G (p.Leu1813Arg)
c.5627T>G (p.Leu1876Arg)
c.5420T>G (p.Leu1807Arg)
c.2123T>G (p.Leu708Arg)
n.1444T>G
n.925T>G
c.5624T>G (p.Leu1875Arg)
c.1948T>G
c.2135T>G (p.Leu712Arg)
c.*5344T>G (n.*5344T>G)
c.*75T>G (n.*75T>G)
c.491T>G (p.Leu164Arg)
c.1034T>G (p.Leu345Arg)
c.260T>G (p.Leu87Arg)
n.5697T>G
n.5738T>G
 ClinVar dbSNP
17g.43045709A>GCA003718BRCA1c.5558T>C (p.Leu1853Pro)
c.5561T>C (p.Leu1854Pro)
c.5435T>C (p.Leu1812Pro)
c.5555T>C (p.Leu1852Pro)
c.5483T>C (p.Leu1828Pro)
c.2249T>C (p.Leu750Pro)
c.2111T>C (p.Leu704Pro)
c.4673T>C (p.Leu1558Pro)
c.5438T>C (p.Leu1813Pro)
c.5627T>C (p.Leu1876Pro)
c.5420T>C (p.Leu1807Pro)
c.2123T>C (p.Leu708Pro)
n.1444T>C
n.925T>C
c.5624T>C (p.Leu1875Pro)
c.1948T>C
c.2135T>C (p.Leu712Pro)
c.*5344T>C (n.*5344T>C)
c.*75T>C (n.*75T>C)
c.491T>C (p.Leu164Pro)
c.1034T>C (p.Leu345Pro)
c.260T>C (p.Leu87Pro)
n.5697T>C
n.5738T>C
 ClinVar dbSNP
17g.43045709A>TCA10590202BRCA1c.5558T>A (p.Leu1853Gln)
c.5561T>A (p.Leu1854Gln)
c.5435T>A (p.Leu1812Gln)
c.5555T>A (p.Leu1852Gln)
c.5483T>A (p.Leu1828Gln)
c.2249T>A (p.Leu750Gln)
c.2111T>A (p.Leu704Gln)
c.4673T>A (p.Leu1558Gln)
c.5438T>A (p.Leu1813Gln)
c.5627T>A (p.Leu1876Gln)
c.5420T>A (p.Leu1807Gln)
c.2123T>A (p.Leu708Gln)
n.1444T>A
n.925T>A
c.5624T>A (p.Leu1875Gln)
c.1948T>A
c.2135T>A (p.Leu712Gln)
c.*5344T>A (n.*5344T>A)
c.*75T>A (n.*75T>A)
c.491T>A (p.Leu164Gln)
c.1034T>A (p.Leu345Gln)
c.260T>A (p.Leu87Gln)
n.5697T>A
n.5738T>A
 ClinVar dbSNP
17g.43045709_43045710delinsAGCA2260761036BRCA1c.5557_5558delinsCT (p.Leu1853=)
c.5560_5561delinsCT (p.Leu1854=)
c.5434_5435delinsCT (p.Leu1812=)
c.5554_5555delinsCT (p.Leu1852=)
c.5482_5483delinsCT (p.Leu1828=)
c.2248_2249delinsCT (p.Leu750=)
c.2110_2111delinsCT (p.Leu704=)
c.4672_4673delinsCT (p.Leu1558=)
c.5437_5438delinsCT (p.Leu1813=)
c.5626_5627delinsCT (p.Leu1876=)
c.5419_5420delinsCT (p.Leu1807=)
c.2122_2123delinsCT (p.Leu708=)
n.1443_1444delinsCT
n.924_925delinsCT
c.5623_5624delinsCT (p.Leu1875=)
c.1947_1948delinsCT
c.2134_2135delinsCT (p.Leu712=)
c.*5343_*5344delinsCT (n.*5343_*5344delinsCT)
c.*74_*75delinsCT (n.*74_*75delinsCT)
c.490_491delinsCT (p.Leu164=)
c.1033_1034delinsCT (p.Leu345=)
c.259_260delinsCT (p.Leu87=)
n.5696_5697delinsCT
n.5737_5738delinsCT
17g.43045709_43045714delinsAGGTAGCA2260761037BRCA1c.5553_5558delinsCTACCT (p.Thr1851=)
c.5556_5561delinsCTACCT (p.Thr1852=)
c.5430_5435delinsCTACCT (p.Thr1810=)
c.5550_5555delinsCTACCT (p.Thr1850=)
c.5478_5483delinsCTACCT (p.Thr1826=)
c.2244_2249delinsCTACCT (p.Thr748=)
c.2106_2111delinsCTACCT (p.Thr702=)
c.4668_4673delinsCTACCT (p.Thr1556=)
c.5433_5438delinsCTACCT (p.Thr1811=)
c.5622_5627delinsCTACCT (p.Thr1874=)
c.5415_5420delinsCTACCT (p.Thr1805=)
c.2118_2123delinsCTACCT (p.Thr706=)
n.1439_1444delinsCTACCT
n.920_925delinsCTACCT
c.5619_5624delinsCTACCT (p.Thr1873=)
c.1943_1948delinsCTACCT
c.2130_2135delinsCTACCT (p.Thr710=)
c.*5339_*5344delinsCTACCT (n.*5339_*5344delinsCTACCT)
c.*70_*75delinsCTACCT (n.*70_*75delinsCTACCT)
c.486_491delinsCTACCT (p.Thr162=)
c.1029_1034delinsCTACCT (p.Thr343=)
c.255_260delinsCTACCT (p.Thr85=)
n.5692_5697delinsCTACCT
n.5733_5738delinsCTACCT
17g.43045713_43045716dupCA2260761035BRCA1c.5555_5558dup (p.Ile1854ProfsTer26)
c.5558_5561dup (p.Ile1855ProfsTer26)
c.5432_5435dup (p.Ile1813ProfsTer26)
c.5552_5555dup (p.Ile1853ProfsTer26)
c.5480_5483dup (p.Ile1829ProfsTer26)
c.2246_2249dup (p.Ile751ProfsTer26)
c.2108_2111dup (p.Ile705ProfsTer26)
c.4670_4673dup (p.Ile1559ProfsTer26)
c.5435_5438dup (p.Ile1814ProfsTer26)
c.5624_5627dup (p.Ile1877ProfsTer26)
c.5417_5420dup (p.Ile1808ProfsTer26)
c.2120_2123dup (p.Ile709ProfsTer26)
n.1441_1444dup
n.922_925dup
c.5621_5624dup (p.Ile1876ProfsTer26)
c.1945_1948dup
c.2132_2135dup (p.Ile713ProfsTer26)
c.*5341_*5344dup (n.*5341_*5344dup)
c.*72_*75dup (n.*72_*75dup)
c.2246_2249dup (p.Ile751ProfsTer?)
c.488_491dup (p.Ile165ProfsTer26)
c.1031_1034dup (p.Ile346ProfsTer26)
c.257_260dup (p.Ile88ProfsTer26)
n.5694_5697dup
n.5735_5738dup
 ClinVar dbSNP
17g.43045710G>ACA500142881BRCA1c.5557C>T (p.Leu1853=)
c.5560C>T (p.Leu1854=)
c.5434C>T (p.Leu1812=)
c.5554C>T (p.Leu1852=)
c.5482C>T (p.Leu1828=)
c.2248C>T (p.Leu750=)
c.2110C>T (p.Leu704=)
c.4672C>T (p.Leu1558=)
c.5437C>T (p.Leu1813=)
c.5626C>T (p.Leu1876=)
c.5419C>T (p.Leu1807=)
c.2122C>T (p.Leu708=)
n.1443C>T
n.924C>T
c.5623C>T (p.Leu1875=)
c.1947C>T
c.2134C>T (p.Leu712=)
c.*5343C>T (n.*5343C>T)
c.*74C>T (n.*74C>T)
c.490C>T (p.Leu164=)
c.1033C>T (p.Leu345=)
c.259C>T (p.Leu87=)
n.5696C>T
n.5737C>T
 ClinVar dbSNP
17g.43045710G>CCA10590203BRCA1c.5557C>G (p.Leu1853Val)
c.5560C>G (p.Leu1854Val)
c.5434C>G (p.Leu1812Val)
c.5554C>G (p.Leu1852Val)
c.5482C>G (p.Leu1828Val)
c.2248C>G (p.Leu750Val)
c.2110C>G (p.Leu704Val)
c.4672C>G (p.Leu1558Val)
c.5437C>G (p.Leu1813Val)
c.5626C>G (p.Leu1876Val)
c.5419C>G (p.Leu1807Val)
c.2122C>G (p.Leu708Val)
n.1443C>G
n.924C>G
c.5623C>G (p.Leu1875Val)
c.1947C>G
c.2134C>G (p.Leu712Val)
c.*5343C>G (n.*5343C>G)
c.*74C>G (n.*74C>G)
c.490C>G (p.Leu164Val)
c.1033C>G (p.Leu345Val)
c.259C>G (p.Leu87Val)
n.5696C>G
n.5737C>G
 ClinVar dbSNP
17g.43045710G=CA2260761039BRCA1c.5557C= (p.Leu1853=)
c.5560C= (p.Leu1854=)
c.5434C= (p.Leu1812=)
c.5554C= (p.Leu1852=)
c.5482C= (p.Leu1828=)
c.2248C= (p.Leu750=)
c.2110C= (p.Leu704=)
c.4672C= (p.Leu1558=)
c.5437C= (p.Leu1813=)
c.5626C= (p.Leu1876=)
c.5419C= (p.Leu1807=)
c.2122C= (p.Leu708=)
n.1443C=
n.924C=
c.5623C= (p.Leu1875=)
c.1947C=
c.2134C= (p.Leu712=)
c.*5343C= (n.*5343C=)
c.*74C= (n.*74C=)
c.490C= (p.Leu164=)
c.1033C= (p.Leu345=)
c.259C= (p.Leu87=)
n.5696C=
n.5737C=
17g.43045710G>TCA10590204BRCA1c.5557C>A (p.Leu1853Met)
c.5560C>A (p.Leu1854Met)
c.5434C>A (p.Leu1812Met)
c.5554C>A (p.Leu1852Met)
c.5482C>A (p.Leu1828Met)
c.2248C>A (p.Leu750Met)
c.2110C>A (p.Leu704Met)
c.4672C>A (p.Leu1558Met)
c.5437C>A (p.Leu1813Met)
c.5626C>A (p.Leu1876Met)
c.5419C>A (p.Leu1807Met)
c.2122C>A (p.Leu708Met)
n.1443C>A
n.924C>A
c.5623C>A (p.Leu1875Met)
c.1947C>A
c.2134C>A (p.Leu712Met)
c.*5343C>A (n.*5343C>A)
c.*74C>A (n.*74C>A)
c.490C>A (p.Leu164Met)
c.1033C>A (p.Leu345Met)
c.259C>A (p.Leu87Met)
n.5696C>A
n.5737C>A
 ClinVar dbSNP
17g.43045711delCA10589580BRCA1c.5557del (p.Leu1853Ter)
c.5560del (p.Leu1854Ter)
c.5434del (p.Leu1812Ter)
c.5554del (p.Leu1852Ter)
c.5482del (p.Leu1828Ter)
c.2248del (p.Leu750Ter)
c.2110del (p.Leu704Ter)
c.4672del (p.Leu1558Ter)
c.5437del (p.Leu1813Ter)
c.5626del (p.Leu1876Ter)
c.5419del (p.Leu1807Ter)
c.2122del (p.Leu708Ter)
n.1443del
n.924del
c.5623del (p.Leu1875Ter)
c.1947del
c.2134del (p.Leu712Ter)
c.*5343del (n.*5343del)
c.*74del (n.*74del)
c.490del (p.Leu164Ter)
c.1033del (p.Leu345Ter)
c.259del (p.Leu87Ter)
n.5696del
n.5737del
 ClinVar dbSNP
17g.43045711_43045715delCA10589579BRCA1c.5553_5557del (p.Tyr1852AspfsTer25)
c.5556_5560del (p.Tyr1853AspfsTer25)
c.5430_5434del (p.Tyr1811AspfsTer25)
c.5550_5554del (p.Tyr1851AspfsTer25)
c.5478_5482del (p.Tyr1827AspfsTer25)
c.2244_2248del (p.Tyr749AspfsTer25)
c.2106_2110del (p.Tyr703AspfsTer25)
c.4668_4672del (p.Tyr1557AspfsTer25)
c.5433_5437del (p.Tyr1812AspfsTer25)
c.5622_5626del (p.Tyr1875AspfsTer25)
c.5415_5419del (p.Tyr1806AspfsTer25)
c.2118_2122del (p.Tyr707AspfsTer25)
n.1439_1443del
n.920_924del
c.5619_5623del (p.Tyr1874AspfsTer25)
c.1943_1947del
c.2130_2134del (p.Tyr711AspfsTer25)
c.*5339_*5343del (n.*5339_*5343del)
c.*70_*74del (n.*70_*74del)
c.2244_2248del (p.Tyr749AspfsTer?)
c.486_490del (p.Tyr163AspfsTer25)
c.1029_1033del (p.Tyr344AspfsTer25)
c.255_259del (p.Tyr86AspfsTer25)
n.5692_5696del
n.5733_5737del
 ClinVar dbSNP
17g.43045711_43045717delCA2580612614BRCA1c.5551_5557del (p.Thr1851Ter)
c.5554_5560del (p.Thr1852Ter)
c.5428_5434del (p.Thr1810Ter)
c.5548_5554del (p.Thr1850Ter)
c.5476_5482del (p.Thr1826Ter)
c.2242_2248del (p.Thr748Ter)
c.2104_2110del (p.Thr702Ter)
c.4666_4672del (p.Thr1556Ter)
c.5431_5437del (p.Thr1811Ter)
c.5620_5626del (p.Thr1874Ter)
c.5413_5419del (p.Thr1805Ter)
c.2116_2122del (p.Thr706Ter)
n.1437_1443del
n.918_924del
c.5617_5623del (p.Thr1873Ter)
c.1941_1947del
c.2128_2134del (p.Thr710Ter)
c.*5337_*5343del (n.*5337_*5343del)
c.*68_*74del (n.*68_*74del)
c.484_490del (p.Thr162Ter)
c.1027_1033del (p.Thr343Ter)
c.253_259del (p.Thr85Ter)
n.5690_5696del
n.5731_5737del
 ClinVar
17g.43045711G>ACA500142882BRCA1c.5556C>T (p.Tyr1852=)
c.5559C>T (p.Tyr1853=)
c.5433C>T (p.Tyr1811=)
c.5553C>T (p.Tyr1851=)
c.5481C>T (p.Tyr1827=)
c.2247C>T (p.Tyr749=)
c.2109C>T (p.Tyr703=)
c.4671C>T (p.Tyr1557=)
c.5436C>T (p.Tyr1812=)
c.5625C>T (p.Tyr1875=)
c.5418C>T (p.Tyr1806=)
c.2121C>T (p.Tyr707=)
n.1442C>T
n.923C>T
c.5622C>T (p.Tyr1874=)
c.1946C>T
c.2133C>T (p.Tyr711=)
c.*5342C>T (n.*5342C>T)
c.*73C>T (n.*73C>T)
c.489C>T (p.Tyr163=)
c.1032C>T (p.Tyr344=)
c.258C>T (p.Tyr86=)
n.5695C>T
n.5736C>T
 ClinVar dbSNP
17g.43045711G>CCA003716BRCA1c.5556C>G (p.Tyr1852Ter)
c.5559C>G (p.Tyr1853Ter)
c.5433C>G (p.Tyr1811Ter)
c.5553C>G (p.Tyr1851Ter)
c.5481C>G (p.Tyr1827Ter)
c.2247C>G (p.Tyr749Ter)
c.2109C>G (p.Tyr703Ter)
c.4671C>G (p.Tyr1557Ter)
c.5436C>G (p.Tyr1812Ter)
c.5625C>G (p.Tyr1875Ter)
c.5418C>G (p.Tyr1806Ter)
c.2121C>G (p.Tyr707Ter)
n.1442C>G
n.923C>G
c.5622C>G (p.Tyr1874Ter)
c.1946C>G
c.2133C>G (p.Tyr711Ter)
c.*5342C>G (n.*5342C>G)
c.*73C>G (n.*73C>G)
c.489C>G (p.Tyr163Ter)
c.1032C>G (p.Tyr344Ter)
c.258C>G (p.Tyr86Ter)
n.5695C>G
n.5736C>G
 ClinVar dbSNP
17g.43045711G=CA2260761040BRCA1c.5556C= (p.Tyr1852=)
c.5559C= (p.Tyr1853=)
c.5433C= (p.Tyr1811=)
c.5553C= (p.Tyr1851=)
c.5481C= (p.Tyr1827=)
c.2247C= (p.Tyr749=)
c.2109C= (p.Tyr703=)
c.4671C= (p.Tyr1557=)
c.5436C= (p.Tyr1812=)
c.5625C= (p.Tyr1875=)
c.5418C= (p.Tyr1806=)
c.2121C= (p.Tyr707=)
n.1442C=
n.923C=
c.5622C= (p.Tyr1874=)
c.1946C=
c.2133C= (p.Tyr711=)
c.*5342C= (n.*5342C=)
c.*73C= (n.*73C=)
c.489C= (p.Tyr163=)
c.1032C= (p.Tyr344=)
c.258C= (p.Tyr86=)
n.5695C=
n.5736C=
17g.43045711G>TCA003715BRCA1c.5556C>A (p.Tyr1852Ter)
c.5559C>A (p.Tyr1853Ter)
c.5433C>A (p.Tyr1811Ter)
c.5553C>A (p.Tyr1851Ter)
c.5481C>A (p.Tyr1827Ter)
c.2247C>A (p.Tyr749Ter)
c.2109C>A (p.Tyr703Ter)
c.4671C>A (p.Tyr1557Ter)
c.5436C>A (p.Tyr1812Ter)
c.5625C>A (p.Tyr1875Ter)
c.5418C>A (p.Tyr1806Ter)
c.2121C>A (p.Tyr707Ter)
n.1442C>A
n.923C>A
c.5622C>A (p.Tyr1874Ter)
c.1946C>A
c.2133C>A (p.Tyr711Ter)
c.*5342C>A (n.*5342C>A)
c.*73C>A (n.*73C>A)
c.489C>A (p.Tyr163Ter)
c.1032C>A (p.Tyr344Ter)
c.258C>A (p.Tyr86Ter)
n.5695C>A
n.5736C>A
 ClinVar dbSNP
17g.43045711_43045716delinsGTAGGTCA2260761041BRCA1c.5551_5556delinsACCTAC (p.Thr1851=)
c.5554_5559delinsACCTAC (p.Thr1852=)
c.5428_5433delinsACCTAC (p.Thr1810=)
c.5548_5553delinsACCTAC (p.Thr1850=)
c.5476_5481delinsACCTAC (p.Thr1826=)
c.2242_2247delinsACCTAC (p.Thr748=)
c.2104_2109delinsACCTAC (p.Thr702=)
c.4666_4671delinsACCTAC (p.Thr1556=)
c.5431_5436delinsACCTAC (p.Thr1811=)
c.5620_5625delinsACCTAC (p.Thr1874=)
c.5413_5418delinsACCTAC (p.Thr1805=)
c.2116_2121delinsACCTAC (p.Thr706=)
n.1437_1442delinsACCTAC
n.918_923delinsACCTAC
c.5617_5622delinsACCTAC (p.Thr1873=)
c.1941_1946delinsACCTAC
c.2128_2133delinsACCTAC (p.Thr710=)
c.*5337_*5342delinsACCTAC (n.*5337_*5342delinsACCTAC)
c.*68_*73delinsACCTAC (n.*68_*73delinsACCTAC)
c.484_489delinsACCTAC (p.Thr162=)
c.1027_1032delinsACCTAC (p.Thr343=)
c.253_258delinsACCTAC (p.Thr85=)
n.5690_5695delinsACCTAC
n.5731_5736delinsACCTAC
17g.43045712T>ACA10590205BRCA1c.5555A>T (p.Tyr1852Phe)
c.5558A>T (p.Tyr1853Phe)
c.5432A>T (p.Tyr1811Phe)
c.5552A>T (p.Tyr1851Phe)
c.5480A>T (p.Tyr1827Phe)
c.2246A>T (p.Tyr749Phe)
c.2108A>T (p.Tyr703Phe)
c.4670A>T (p.Tyr1557Phe)
c.5435A>T (p.Tyr1812Phe)
c.5624A>T (p.Tyr1875Phe)
c.5417A>T (p.Tyr1806Phe)
c.2120A>T (p.Tyr707Phe)
n.1441A>T
n.922A>T
c.5621A>T (p.Tyr1874Phe)
c.1945A>T
c.2132A>T (p.Tyr711Phe)
c.*5341A>T (n.*5341A>T)
c.*72A>T (n.*72A>T)
c.488A>T (p.Tyr163Phe)
c.1031A>T (p.Tyr344Phe)
c.257A>T (p.Tyr86Phe)
n.5694A>T
n.5735A>T
 ClinVar dbSNP
17g.43045712T>CCA003714BRCA1c.5555A>G (p.Tyr1852Cys)
c.5558A>G (p.Tyr1853Cys)
c.5432A>G (p.Tyr1811Cys)
c.5552A>G (p.Tyr1851Cys)
c.5480A>G (p.Tyr1827Cys)
c.2246A>G (p.Tyr749Cys)
c.2108A>G (p.Tyr703Cys)
c.4670A>G (p.Tyr1557Cys)
c.5435A>G (p.Tyr1812Cys)
c.5624A>G (p.Tyr1875Cys)
c.5417A>G (p.Tyr1806Cys)
c.2120A>G (p.Tyr707Cys)
n.1441A>G
n.922A>G
c.5621A>G (p.Tyr1874Cys)
c.1945A>G
c.2132A>G (p.Tyr711Cys)
c.*5341A>G (n.*5341A>G)
c.*72A>G (n.*72A>G)
c.488A>G (p.Tyr163Cys)
c.1031A>G (p.Tyr344Cys)
c.257A>G (p.Tyr86Cys)
n.5694A>G
n.5735A>G
 ClinVar dbSNP gnomAD v4
17g.43045712T>GCA10590206BRCA1c.5555A>C (p.Tyr1852Ser)
c.5558A>C (p.Tyr1853Ser)
c.5432A>C (p.Tyr1811Ser)
c.5552A>C (p.Tyr1851Ser)
c.5480A>C (p.Tyr1827Ser)
c.2246A>C (p.Tyr749Ser)
c.2108A>C (p.Tyr703Ser)
c.4670A>C (p.Tyr1557Ser)
c.5435A>C (p.Tyr1812Ser)
c.5624A>C (p.Tyr1875Ser)
c.5417A>C (p.Tyr1806Ser)
c.2120A>C (p.Tyr707Ser)
n.1441A>C
n.922A>C
c.5621A>C (p.Tyr1874Ser)
c.1945A>C
c.2132A>C (p.Tyr711Ser)
c.*5341A>C (n.*5341A>C)
c.*72A>C (n.*72A>C)
c.488A>C (p.Tyr163Ser)
c.1031A>C (p.Tyr344Ser)
c.257A>C (p.Tyr86Ser)
n.5694A>C
n.5735A>C
 ClinVar dbSNP
17g.43045712T=CA2260761042BRCA1c.5555A= (p.Tyr1852=)
c.5558A= (p.Tyr1853=)
c.5432A= (p.Tyr1811=)
c.5552A= (p.Tyr1851=)
c.5480A= (p.Tyr1827=)
c.2246A= (p.Tyr749=)
c.2108A= (p.Tyr703=)
c.4670A= (p.Tyr1557=)
c.5435A= (p.Tyr1812=)
c.5624A= (p.Tyr1875=)
c.5417A= (p.Tyr1806=)
c.2120A= (p.Tyr707=)
n.1441A=
n.922A=
c.5621A= (p.Tyr1874=)
c.1945A=
c.2132A= (p.Tyr711=)
c.*5341A= (n.*5341A=)
c.*72A= (n.*72A=)
c.488A= (p.Tyr163=)
c.1031A= (p.Tyr344=)
c.257A= (p.Tyr86=)
n.5694A=
n.5735A=
17g.43045712dupCA003713BRCA1c.5555dup (p.Tyr1852Ter)
c.5558dup (p.Tyr1853Ter)
c.5432dup (p.Tyr1811Ter)
c.5552dup (p.Tyr1851Ter)
c.5480dup (p.Tyr1827Ter)
c.2246dup (p.Tyr749Ter)
c.2108dup (p.Tyr703Ter)
c.4670dup (p.Tyr1557Ter)
c.5435dup (p.Tyr1812Ter)
c.5624dup (p.Tyr1875Ter)
c.5417dup (p.Tyr1806Ter)
c.2120dup (p.Tyr707Ter)
n.1441dup
n.922dup
c.5621dup (p.Tyr1874Ter)
c.1945dup
c.2132dup (p.Tyr711Ter)
c.*5341dup (n.*5341dup)
c.*72dup (n.*72dup)
c.488dup (p.Tyr163Ter)
c.1031dup (p.Tyr344Ter)
c.257dup (p.Tyr86Ter)
n.5694dup
n.5735dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045712_43045716delCA915950024BRCA1c.5551_5555del (p.Thr1851ProfsTer26)
c.5554_5558del (p.Thr1852ProfsTer26)
c.5428_5432del (p.Thr1810ProfsTer26)
c.5548_5552del (p.Thr1850ProfsTer26)
c.5476_5480del (p.Thr1826ProfsTer26)
c.2242_2246del (p.Thr748ProfsTer26)
c.2104_2108del (p.Thr702ProfsTer26)
c.4666_4670del (p.Thr1556ProfsTer26)
c.5431_5435del (p.Thr1811ProfsTer26)
c.5620_5624del (p.Thr1874ProfsTer26)
c.5413_5417del (p.Thr1805ProfsTer26)
c.2116_2120del (p.Thr706ProfsTer26)
n.1437_1441del
n.918_922del
c.5617_5621del (p.Thr1873ProfsTer26)
c.1941_1945del
c.2128_2132del (p.Thr710ProfsTer26)
c.*5337_*5341del (n.*5337_*5341del)
c.*68_*72del (n.*68_*72del)
c.2242_2246del (p.Thr748ProfsTer?)
c.484_488del (p.Thr162ProfsTer26)
c.1027_1031del (p.Thr343ProfsTer26)
c.253_257del (p.Thr85ProfsTer26)
n.5690_5694del
n.5731_5735del
 ClinVar dbSNP
17g.43045713delCA2580093792BRCA1c.5554del (p.Tyr1852ThrfsTer2)
c.5557del (p.Tyr1853ThrfsTer2)
c.5431del (p.Tyr1811ThrfsTer2)
c.5551del (p.Tyr1851ThrfsTer2)
c.5479del (p.Tyr1827ThrfsTer2)
c.2245del (p.Tyr749ThrfsTer2)
c.2107del (p.Tyr703ThrfsTer2)
c.4669del (p.Tyr1557ThrfsTer2)
c.5434del (p.Tyr1812ThrfsTer2)
c.5623del (p.Tyr1875ThrfsTer2)
c.5416del (p.Tyr1806ThrfsTer2)
c.2119del (p.Tyr707ThrfsTer2)
n.1440del
n.921del
c.5620del (p.Tyr1874ThrfsTer2)
c.1944del
c.2131del (p.Tyr711ThrfsTer2)
c.*5340del (n.*5340del)
c.*71del (n.*71del)
c.487del (p.Tyr163ThrfsTer2)
c.1030del (p.Tyr344ThrfsTer2)
c.256del (p.Tyr86ThrfsTer2)
n.5693del
n.5734del
 ClinVar
17g.43045713A=CA2260761044BRCA1c.5554T= (p.Tyr1852=)
c.5557T= (p.Tyr1853=)
c.5431T= (p.Tyr1811=)
c.5551T= (p.Tyr1851=)
c.5479T= (p.Tyr1827=)
c.2245T= (p.Tyr749=)
c.2107T= (p.Tyr703=)
c.4669T= (p.Tyr1557=)
c.5434T= (p.Tyr1812=)
c.5623T= (p.Tyr1875=)
c.5416T= (p.Tyr1806=)
c.2119T= (p.Tyr707=)
n.1440T=
n.921T=
c.5620T= (p.Tyr1874=)
c.1944T=
c.2131T= (p.Tyr711=)
c.*5340T= (n.*5340T=)
c.*71T= (n.*71T=)
c.487T= (p.Tyr163=)
c.1030T= (p.Tyr344=)
c.256T= (p.Tyr86=)
n.5693T=
n.5734T=
17g.43045713A>CCA10590207BRCA1c.5554T>G (p.Tyr1852Asp)
c.5557T>G (p.Tyr1853Asp)
c.5431T>G (p.Tyr1811Asp)
c.5551T>G (p.Tyr1851Asp)
c.5479T>G (p.Tyr1827Asp)
c.2245T>G (p.Tyr749Asp)
c.2107T>G (p.Tyr703Asp)
c.4669T>G (p.Tyr1557Asp)
c.5434T>G (p.Tyr1812Asp)
c.5623T>G (p.Tyr1875Asp)
c.5416T>G (p.Tyr1806Asp)
c.2119T>G (p.Tyr707Asp)
n.1440T>G
n.921T>G
c.5620T>G (p.Tyr1874Asp)
c.1944T>G
c.2131T>G (p.Tyr711Asp)
c.*5340T>G (n.*5340T>G)
c.*71T>G (n.*71T>G)
c.487T>G (p.Tyr163Asp)
c.1030T>G (p.Tyr344Asp)
c.256T>G (p.Tyr86Asp)
n.5693T>G
n.5734T>G
 ClinVar dbSNP
17g.43045713A>GCA10590208BRCA1c.5554T>C (p.Tyr1852His)
c.5557T>C (p.Tyr1853His)
c.5431T>C (p.Tyr1811His)
c.5551T>C (p.Tyr1851His)
c.5479T>C (p.Tyr1827His)
c.2245T>C (p.Tyr749His)
c.2107T>C (p.Tyr703His)
c.4669T>C (p.Tyr1557His)
c.5434T>C (p.Tyr1812His)
c.5623T>C (p.Tyr1875His)
c.5416T>C (p.Tyr1806His)
c.2119T>C (p.Tyr707His)
n.1440T>C
n.921T>C
c.5620T>C (p.Tyr1874His)
c.1944T>C
c.2131T>C (p.Tyr711His)
c.*5340T>C (n.*5340T>C)
c.*71T>C (n.*71T>C)
c.487T>C (p.Tyr163His)
c.1030T>C (p.Tyr344His)
c.256T>C (p.Tyr86His)
n.5693T>C
n.5734T>C
 ClinVar dbSNP
17g.43045713A>TCA10590209BRCA1c.5554T>A (p.Tyr1852Asn)
c.5557T>A (p.Tyr1853Asn)
c.5431T>A (p.Tyr1811Asn)
c.5551T>A (p.Tyr1851Asn)
c.5479T>A (p.Tyr1827Asn)
c.2245T>A (p.Tyr749Asn)
c.2107T>A (p.Tyr703Asn)
c.4669T>A (p.Tyr1557Asn)
c.5434T>A (p.Tyr1812Asn)
c.5623T>A (p.Tyr1875Asn)
c.5416T>A (p.Tyr1806Asn)
c.2119T>A (p.Tyr707Asn)
n.1440T>A
n.921T>A
c.5620T>A (p.Tyr1874Asn)
c.1944T>A
c.2131T>A (p.Tyr711Asn)
c.*5340T>A (n.*5340T>A)
c.*71T>A (n.*71T>A)
c.487T>A (p.Tyr163Asn)
c.1030T>A (p.Tyr344Asn)
c.256T>A (p.Tyr86Asn)
n.5693T>A
n.5734T>A
 ClinVar dbSNP
17g.43045713_43045733delinsAGGTGTCCAGCTCCTGGCACTCA2260761043BRCA1c.5534_5554delinsAGTGCCAGGAGCTGGACACCT (p.Gln1845=)
c.5537_5557delinsAGTGCCAGGAGCTGGACACCT (p.Gln1846=)
c.5411_5431delinsAGTGCCAGGAGCTGGACACCT (p.Gln1804=)
c.5531_5551delinsAGTGCCAGGAGCTGGACACCT (p.Gln1844=)
c.5459_5479delinsAGTGCCAGGAGCTGGACACCT (p.Gln1820=)
c.2225_2245delinsAGTGCCAGGAGCTGGACACCT (p.Gln742=)
c.2087_2107delinsAGTGCCAGGAGCTGGACACCT (p.Gln696=)
c.4649_4669delinsAGTGCCAGGAGCTGGACACCT (p.Gln1550=)
c.5414_5434delinsAGTGCCAGGAGCTGGACACCT (p.Gln1805=)
c.5603_5623delinsAGTGCCAGGAGCTGGACACCT (p.Gln1868=)
c.5396_5416delinsAGTGCCAGGAGCTGGACACCT (p.Gln1799=)
c.2099_2119delinsAGTGCCAGGAGCTGGACACCT (p.Gln700=)
n.1420_1440delinsAGTGCCAGGAGCTGGACACCT
n.901_921delinsAGTGCCAGGAGCTGGACACCT
c.5600_5620delinsAGTGCCAGGAGCTGGACACCT (p.Gln1867=)
c.1924_1944delinsAGTGCCAGGAGCTGGACACCT
c.2111_2131delinsAGTGCCAGGAGCTGGACACCT (p.Gln704=)
c.*5320_*5340delinsAGTGCCAGGAGCTGGACACCT (n.*5320_*5340delinsAGTGCCAGGAGCTGGACACCT)
c.*51_*71delinsAGTGCCAGGAGCTGGACACCT (n.*51_*71delinsAGTGCCAGGAGCTGGACACCT)
c.467_487delinsAGTGCCAGGAGCTGGACACCT (p.Gln156=)
c.1010_1030delinsAGTGCCAGGAGCTGGACACCT (p.Gln337=)
c.236_256delinsAGTGCCAGGAGCTGGACACCT (p.Gln79=)
n.5673_5693delinsAGTGCCAGGAGCTGGACACCT
n.5714_5734delinsAGTGCCAGGAGCTGGACACCT
17g.43045714G>ACA500142883BRCA1c.5553C>T (p.Thr1851=)
c.5556C>T (p.Thr1852=)
c.5430C>T (p.Thr1810=)
c.5550C>T (p.Thr1850=)
c.5478C>T (p.Thr1826=)
c.2244C>T (p.Thr748=)
c.2106C>T (p.Thr702=)
c.4668C>T (p.Thr1556=)
c.5433C>T (p.Thr1811=)
c.5622C>T (p.Thr1874=)
c.5415C>T (p.Thr1805=)
c.2118C>T (p.Thr706=)
n.1439C>T
n.920C>T
c.5619C>T (p.Thr1873=)
c.1943C>T
c.2130C>T (p.Thr710=)
c.*5339C>T (n.*5339C>T)
c.*70C>T (n.*70C>T)
c.486C>T (p.Thr162=)
c.1029C>T (p.Thr343=)
c.255C>T (p.Thr85=)
n.5692C>T
n.5733C>T
 ClinVar dbSNP
17g.43045714G>CCA003712BRCA1c.5553C>G (p.Thr1851=)
c.5556C>G (p.Thr1852=)
c.5430C>G (p.Thr1810=)
c.5550C>G (p.Thr1850=)
c.5478C>G (p.Thr1826=)
c.2244C>G (p.Thr748=)
c.2106C>G (p.Thr702=)
c.4668C>G (p.Thr1556=)
c.5433C>G (p.Thr1811=)
c.5622C>G (p.Thr1874=)
c.5415C>G (p.Thr1805=)
c.2118C>G (p.Thr706=)
n.1439C>G
n.920C>G
c.5619C>G (p.Thr1873=)
c.1943C>G
c.2130C>G (p.Thr710=)
c.*5339C>G (n.*5339C>G)
c.*70C>G (n.*70C>G)
c.486C>G (p.Thr162=)
c.1029C>G (p.Thr343=)
c.255C>G (p.Thr85=)
n.5692C>G
n.5733C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045714G=CA2260761045BRCA1c.5553C= (p.Thr1851=)
c.5556C= (p.Thr1852=)
c.5430C= (p.Thr1810=)
c.5550C= (p.Thr1850=)
c.5478C= (p.Thr1826=)
c.2244C= (p.Thr748=)
c.2106C= (p.Thr702=)
c.4668C= (p.Thr1556=)
c.5433C= (p.Thr1811=)
c.5622C= (p.Thr1874=)
c.5415C= (p.Thr1805=)
c.2118C= (p.Thr706=)
n.1439C=
n.920C=
c.5619C= (p.Thr1873=)
c.1943C=
c.2130C= (p.Thr710=)
c.*5339C= (n.*5339C=)
c.*70C= (n.*70C=)
c.486C= (p.Thr162=)
c.1029C= (p.Thr343=)
c.255C= (p.Thr85=)
n.5692C=
n.5733C=
17g.43045714G>TCA500142884BRCA1c.5553C>A (p.Thr1851=)
c.5556C>A (p.Thr1852=)
c.5430C>A (p.Thr1810=)
c.5550C>A (p.Thr1850=)
c.5478C>A (p.Thr1826=)
c.2244C>A (p.Thr748=)
c.2106C>A (p.Thr702=)
c.4668C>A (p.Thr1556=)
c.5433C>A (p.Thr1811=)
c.5622C>A (p.Thr1874=)
c.5415C>A (p.Thr1805=)
c.2118C>A (p.Thr706=)
n.1439C>A
n.920C>A
c.5619C>A (p.Thr1873=)
c.1943C>A
c.2130C>A (p.Thr710=)
c.*5339C>A (n.*5339C>A)
c.*70C>A (n.*70C>A)
c.486C>A (p.Thr162=)
c.1029C>A (p.Thr343=)
c.255C>A (p.Thr85=)
n.5692C>A
n.5733C>A
 ClinVar dbSNP
17g.43045714_43045716delinsGGTCA2260761046BRCA1c.5551_5553delinsACC (p.Thr1851=)
c.5554_5556delinsACC (p.Thr1852=)
c.5428_5430delinsACC (p.Thr1810=)
c.5548_5550delinsACC (p.Thr1850=)
c.5476_5478delinsACC (p.Thr1826=)
c.2242_2244delinsACC (p.Thr748=)
c.2104_2106delinsACC (p.Thr702=)
c.4666_4668delinsACC (p.Thr1556=)
c.5431_5433delinsACC (p.Thr1811=)
c.5620_5622delinsACC (p.Thr1874=)
c.5413_5415delinsACC (p.Thr1805=)
c.2116_2118delinsACC (p.Thr706=)
n.1437_1439delinsACC
n.918_920delinsACC
c.5617_5619delinsACC (p.Thr1873=)
c.1941_1943delinsACC
c.2128_2130delinsACC (p.Thr710=)
c.*5337_*5339delinsACC (n.*5337_*5339delinsACC)
c.*68_*70delinsACC (n.*68_*70delinsACC)
c.484_486delinsACC (p.Thr162=)
c.1027_1029delinsACC (p.Thr343=)
c.253_255delinsACC (p.Thr85=)
n.5690_5692delinsACC
n.5731_5733delinsACC
17g.43045717_43045736delCA10589581BRCA1c.5534_5553del (p.Gln1845LeufsTer27)
c.5537_5556del (p.Gln1846LeufsTer27)
c.5411_5430del (p.Gln1804LeufsTer27)
c.5531_5550del (p.Gln1844LeufsTer27)
c.5459_5478del (p.Gln1820LeufsTer27)
c.2225_2244del (p.Gln742LeufsTer27)
c.2087_2106del (p.Gln696LeufsTer27)
c.4649_4668del (p.Gln1550LeufsTer27)
c.5414_5433del (p.Gln1805LeufsTer27)
c.5603_5622del (p.Gln1868LeufsTer27)
c.5396_5415del (p.Gln1799LeufsTer27)
c.2099_2118del (p.Gln700LeufsTer27)
n.1420_1439del
n.901_920del
c.5600_5619del (p.Gln1867LeufsTer27)
c.1924_1943del
c.2111_2130del (p.Gln704LeufsTer27)
c.*5320_*5339del (n.*5320_*5339del)
c.*51_*70del (n.*51_*70del)
c.2225_2244del (p.Gln742LeufsTer?)
c.467_486del (p.Gln156LeufsTer27)
c.1010_1029del (p.Gln337LeufsTer27)
c.236_255del (p.Gln79LeufsTer27)
n.5673_5692del
n.5714_5733del
 ClinVar dbSNP
17g.43045715G>ACA003711BRCA1c.5552C>T (p.Thr1851Ile)
c.5555C>T (p.Thr1852Ile)
c.5429C>T (p.Thr1810Ile)
c.5549C>T (p.Thr1850Ile)
c.5477C>T (p.Thr1826Ile)
c.2243C>T (p.Thr748Ile)
c.2105C>T (p.Thr702Ile)
c.4667C>T (p.Thr1556Ile)
c.5432C>T (p.Thr1811Ile)
c.5621C>T (p.Thr1874Ile)
c.5414C>T (p.Thr1805Ile)
c.2117C>T (p.Thr706Ile)
n.1438C>T
n.919C>T
c.5618C>T (p.Thr1873Ile)
c.1942C>T
c.2129C>T (p.Thr710Ile)
c.*5338C>T (n.*5338C>T)
c.*69C>T (n.*69C>T)
c.485C>T (p.Thr162Ile)
c.1028C>T (p.Thr343Ile)
c.254C>T (p.Thr85Ile)
n.5691C>T
n.5732C>T
 ClinVar dbSNP
17g.43045715G>CCA10590210BRCA1c.5552C>G (p.Thr1851Ser)
c.5555C>G (p.Thr1852Ser)
c.5429C>G (p.Thr1810Ser)
c.5549C>G (p.Thr1850Ser)
c.5477C>G (p.Thr1826Ser)
c.2243C>G (p.Thr748Ser)
c.2105C>G (p.Thr702Ser)
c.4667C>G (p.Thr1556Ser)
c.5432C>G (p.Thr1811Ser)
c.5621C>G (p.Thr1874Ser)
c.5414C>G (p.Thr1805Ser)
c.2117C>G (p.Thr706Ser)
n.1438C>G
n.919C>G
c.5618C>G (p.Thr1873Ser)
c.1942C>G
c.2129C>G (p.Thr710Ser)
c.*5338C>G (n.*5338C>G)
c.*69C>G (n.*69C>G)
c.485C>G (p.Thr162Ser)
c.1028C>G (p.Thr343Ser)
c.254C>G (p.Thr85Ser)
n.5691C>G
n.5732C>G
 ClinVar dbSNP
17g.43045715G=CA2260761047BRCA1c.5552C= (p.Thr1851=)
c.5555C= (p.Thr1852=)
c.5429C= (p.Thr1810=)
c.5549C= (p.Thr1850=)
c.5477C= (p.Thr1826=)
c.2243C= (p.Thr748=)
c.2105C= (p.Thr702=)
c.4667C= (p.Thr1556=)
c.5432C= (p.Thr1811=)
c.5621C= (p.Thr1874=)
c.5414C= (p.Thr1805=)
c.2117C= (p.Thr706=)
n.1438C=
n.919C=
c.5618C= (p.Thr1873=)
c.1942C=
c.2129C= (p.Thr710=)
c.*5338C= (n.*5338C=)
c.*69C= (n.*69C=)
c.485C= (p.Thr162=)
c.1028C= (p.Thr343=)
c.254C= (p.Thr85=)
n.5691C=
n.5732C=
17g.43045715G>TCA10590211BRCA1c.5552C>A (p.Thr1851Asn)
c.5555C>A (p.Thr1852Asn)
c.5429C>A (p.Thr1810Asn)
c.5549C>A (p.Thr1850Asn)
c.5477C>A (p.Thr1826Asn)
c.2243C>A (p.Thr748Asn)
c.2105C>A (p.Thr702Asn)
c.4667C>A (p.Thr1556Asn)
c.5432C>A (p.Thr1811Asn)
c.5621C>A (p.Thr1874Asn)
c.5414C>A (p.Thr1805Asn)
c.2117C>A (p.Thr706Asn)
n.1438C>A
n.919C>A
c.5618C>A (p.Thr1873Asn)
c.1942C>A
c.2129C>A (p.Thr710Asn)
c.*5338C>A (n.*5338C>A)
c.*69C>A (n.*69C>A)
c.485C>A (p.Thr162Asn)
c.1028C>A (p.Thr343Asn)
c.254C>A (p.Thr85Asn)
n.5691C>A
n.5732C>A
 ClinVar dbSNP
17g.43045717_43045718delCA916080701BRCA1c.5551_5552del (p.Thr1851LeufsTer27)
c.5554_5555del (p.Thr1852LeufsTer27)
c.5428_5429del (p.Thr1810LeufsTer27)
c.5548_5549del (p.Thr1850LeufsTer27)
c.5476_5477del (p.Thr1826LeufsTer27)
c.2242_2243del (p.Thr748LeufsTer27)
c.2104_2105del (p.Thr702LeufsTer27)
c.4666_4667del (p.Thr1556LeufsTer27)
c.5431_5432del (p.Thr1811LeufsTer27)
c.5620_5621del (p.Thr1874LeufsTer27)
c.5413_5414del (p.Thr1805LeufsTer27)
c.2116_2117del (p.Thr706LeufsTer27)
n.1437_1438del
n.918_919del
c.5617_5618del (p.Thr1873LeufsTer27)
c.1941_1942del
c.2128_2129del (p.Thr710LeufsTer27)
c.*5337_*5338del (n.*5337_*5338del)
c.*68_*69del (n.*68_*69del)
c.2242_2243del (p.Thr748LeufsTer?)
c.484_485del (p.Thr162LeufsTer27)
c.1027_1028del (p.Thr343LeufsTer27)
c.253_254del (p.Thr85LeufsTer27)
n.5690_5691del
n.5731_5732del
 ClinVar dbSNP
17g.43045716T>ACA501170BRCA1c.5551A>T (p.Thr1851Ser)
c.5554A>T (p.Thr1852Ser)
c.5428A>T (p.Thr1810Ser)
c.5548A>T (p.Thr1850Ser)
c.5476A>T (p.Thr1826Ser)
c.2242A>T (p.Thr748Ser)
c.2104A>T (p.Thr702Ser)
c.4666A>T (p.Thr1556Ser)
c.5431A>T (p.Thr1811Ser)
c.5620A>T (p.Thr1874Ser)
c.5413A>T (p.Thr1805Ser)
c.2116A>T (p.Thr706Ser)
n.1437A>T
n.918A>T
c.5617A>T (p.Thr1873Ser)
c.1941A>T
c.2128A>T (p.Thr710Ser)
c.*5337A>T (n.*5337A>T)
c.*68A>T (n.*68A>T)
c.484A>T (p.Thr162Ser)
c.1027A>T (p.Thr343Ser)
c.253A>T (p.Thr85Ser)
n.5690A>T
n.5731A>T
 ClinVar dbSNP
17g.43045716T>CCA10590212BRCA1c.5551A>G (p.Thr1851Ala)
c.5554A>G (p.Thr1852Ala)
c.5428A>G (p.Thr1810Ala)
c.5548A>G (p.Thr1850Ala)
c.5476A>G (p.Thr1826Ala)
c.2242A>G (p.Thr748Ala)
c.2104A>G (p.Thr702Ala)
c.4666A>G (p.Thr1556Ala)
c.5431A>G (p.Thr1811Ala)
c.5620A>G (p.Thr1874Ala)
c.5413A>G (p.Thr1805Ala)
c.2116A>G (p.Thr706Ala)
n.1437A>G
n.918A>G
c.5617A>G (p.Thr1873Ala)
c.1941A>G
c.2128A>G (p.Thr710Ala)
c.*5337A>G (n.*5337A>G)
c.*68A>G (n.*68A>G)
c.484A>G (p.Thr162Ala)
c.1027A>G (p.Thr343Ala)
c.253A>G (p.Thr85Ala)
n.5690A>G
n.5731A>G
 ClinVar dbSNP gnomAD v4
17g.43045716T>GCA10590213BRCA1c.5551A>C (p.Thr1851Pro)
c.5554A>C (p.Thr1852Pro)
c.5428A>C (p.Thr1810Pro)
c.5548A>C (p.Thr1850Pro)
c.5476A>C (p.Thr1826Pro)
c.2242A>C (p.Thr748Pro)
c.2104A>C (p.Thr702Pro)
c.4666A>C (p.Thr1556Pro)
c.5431A>C (p.Thr1811Pro)
c.5620A>C (p.Thr1874Pro)
c.5413A>C (p.Thr1805Pro)
c.2116A>C (p.Thr706Pro)
n.1437A>C
n.918A>C
c.5617A>C (p.Thr1873Pro)
c.1941A>C
c.2128A>C (p.Thr710Pro)
c.*5337A>C (n.*5337A>C)
c.*68A>C (n.*68A>C)
c.484A>C (p.Thr162Pro)
c.1027A>C (p.Thr343Pro)
c.253A>C (p.Thr85Pro)
n.5690A>C
n.5731A>C
 ClinVar dbSNP
17g.43045716T=CA2260761048BRCA1c.5551A= (p.Thr1851=)
c.5554A= (p.Thr1852=)
c.5428A= (p.Thr1810=)
c.5548A= (p.Thr1850=)
c.5476A= (p.Thr1826=)
c.2242A= (p.Thr748=)
c.2104A= (p.Thr702=)
c.4666A= (p.Thr1556=)
c.5431A= (p.Thr1811=)
c.5620A= (p.Thr1874=)
c.5413A= (p.Thr1805=)
c.2116A= (p.Thr706=)
n.1437A=
n.918A=
c.5617A= (p.Thr1873=)
c.1941A=
c.2128A= (p.Thr710=)
c.*5337A= (n.*5337A=)
c.*68A= (n.*68A=)
c.484A= (p.Thr162=)
c.1027A= (p.Thr343=)
c.253A= (p.Thr85=)
n.5690A=
n.5731A=
17g.43045717G>ACA500142885BRCA1c.5550C>T (p.Asp1850=)
c.5553C>T (p.Asp1851=)
c.5427C>T (p.Asp1809=)
c.5547C>T (p.Asp1849=)
c.5475C>T (p.Asp1825=)
c.2241C>T (p.Asp747=)
c.2103C>T (p.Asp701=)
c.4665C>T (p.Asp1555=)
c.5430C>T (p.Asp1810=)
c.5619C>T (p.Asp1873=)
c.5412C>T (p.Asp1804=)
c.2115C>T (p.Asp705=)
n.1436C>T
n.917C>T
c.5616C>T (p.Asp1872=)
c.1940C>T
c.2127C>T (p.Asp709=)
c.*5336C>T (n.*5336C>T)
c.*67C>T (n.*67C>T)
c.483C>T (p.Asp161=)
c.1026C>T (p.Asp342=)
c.252C>T (p.Asp84=)
n.5689C>T
n.5730C>T
 ClinVar dbSNP
17g.43045717G>CCA10590214BRCA1c.5550C>G (p.Asp1850Glu)
c.5553C>G (p.Asp1851Glu)
c.5427C>G (p.Asp1809Glu)
c.5547C>G (p.Asp1849Glu)
c.5475C>G (p.Asp1825Glu)
c.2241C>G (p.Asp747Glu)
c.2103C>G (p.Asp701Glu)
c.4665C>G (p.Asp1555Glu)
c.5430C>G (p.Asp1810Glu)
c.5619C>G (p.Asp1873Glu)
c.5412C>G (p.Asp1804Glu)
c.2115C>G (p.Asp705Glu)
n.1436C>G
n.917C>G
c.5616C>G (p.Asp1872Glu)
c.1940C>G
c.2127C>G (p.Asp709Glu)
c.*5336C>G (n.*5336C>G)
c.*67C>G (n.*67C>G)
c.483C>G (p.Asp161Glu)
c.1026C>G (p.Asp342Glu)
c.252C>G (p.Asp84Glu)
n.5689C>G
n.5730C>G
 ClinVar dbSNP
17g.43045717G=CA2260761049BRCA1c.5550C= (p.Asp1850=)
c.5553C= (p.Asp1851=)
c.5427C= (p.Asp1809=)
c.5547C= (p.Asp1849=)
c.5475C= (p.Asp1825=)
c.2241C= (p.Asp747=)
c.2103C= (p.Asp701=)
c.4665C= (p.Asp1555=)
c.5430C= (p.Asp1810=)
c.5619C= (p.Asp1873=)
c.5412C= (p.Asp1804=)
c.2115C= (p.Asp705=)
n.1436C=
n.917C=
c.5616C= (p.Asp1872=)
c.1940C=
c.2127C= (p.Asp709=)
c.*5336C= (n.*5336C=)
c.*67C= (n.*67C=)
c.483C= (p.Asp161=)
c.1026C= (p.Asp342=)
c.252C= (p.Asp84=)
n.5689C=
n.5730C=
17g.43045717G>TCA003710BRCA1c.5550C>A (p.Asp1850Glu)
c.5553C>A (p.Asp1851Glu)
c.5427C>A (p.Asp1809Glu)
c.5547C>A (p.Asp1849Glu)
c.5475C>A (p.Asp1825Glu)
c.2241C>A (p.Asp747Glu)
c.2103C>A (p.Asp701Glu)
c.4665C>A (p.Asp1555Glu)
c.5430C>A (p.Asp1810Glu)
c.5619C>A (p.Asp1873Glu)
c.5412C>A (p.Asp1804Glu)
c.2115C>A (p.Asp705Glu)
n.1436C>A
n.917C>A
c.5616C>A (p.Asp1872Glu)
c.1940C>A
c.2127C>A (p.Asp709Glu)
c.*5336C>A (n.*5336C>A)
c.*67C>A (n.*67C>A)
c.483C>A (p.Asp161Glu)
c.1026C>A (p.Asp342Glu)
c.252C>A (p.Asp84Glu)
n.5689C>A
n.5730C>A
 ClinVar dbSNP
17g.43045717dupCA328027BRCA1c.5550dup (p.Thr1851HisfsTer28)
c.5553dup (p.Thr1852HisfsTer28)
c.5427dup (p.Thr1810HisfsTer28)
c.5547dup (p.Thr1850HisfsTer28)
c.5475dup (p.Thr1826HisfsTer28)
c.2241dup (p.Thr748HisfsTer28)
c.2103dup (p.Thr702HisfsTer28)
c.4665dup (p.Thr1556HisfsTer28)
c.5430dup (p.Thr1811HisfsTer28)
c.5619dup (p.Thr1874HisfsTer28)
c.5412dup (p.Thr1805HisfsTer28)
c.2115dup (p.Thr706HisfsTer28)
n.1436dup
n.917dup
c.5616dup (p.Thr1873HisfsTer28)
c.1940dup
c.2127dup (p.Thr710HisfsTer28)
c.*5336dup (n.*5336dup)
c.*67dup (n.*67dup)
c.2241dup (p.Thr748HisfsTer?)
c.483dup (p.Thr162HisfsTer28)
c.1026dup (p.Thr343HisfsTer28)
c.252dup (p.Thr85HisfsTer28)
n.5689dup
n.5730dup
 ClinVar dbSNP
17g.43045718T>ACA10590215BRCA1c.5549A>T (p.Asp1850Val)
c.5552A>T (p.Asp1851Val)
c.5426A>T (p.Asp1809Val)
c.5546A>T (p.Asp1849Val)
c.5474A>T (p.Asp1825Val)
c.2240A>T (p.Asp747Val)
c.2102A>T (p.Asp701Val)
c.4664A>T (p.Asp1555Val)
c.5429A>T (p.Asp1810Val)
c.5618A>T (p.Asp1873Val)
c.5411A>T (p.Asp1804Val)
c.2114A>T (p.Asp705Val)
n.1435A>T
n.916A>T
c.5615A>T (p.Asp1872Val)
c.1939A>T
c.2126A>T (p.Asp709Val)
c.*5335A>T (n.*5335A>T)
c.*66A>T (n.*66A>T)
c.482A>T (p.Asp161Val)
c.1025A>T (p.Asp342Val)
c.251A>T (p.Asp84Val)
n.5688A>T
n.5729A>T
 ClinVar dbSNP
17g.43045718T>CCA10590216BRCA1c.5549A>G (p.Asp1850Gly)
c.5552A>G (p.Asp1851Gly)
c.5426A>G (p.Asp1809Gly)
c.5546A>G (p.Asp1849Gly)
c.5474A>G (p.Asp1825Gly)
c.2240A>G (p.Asp747Gly)
c.2102A>G (p.Asp701Gly)
c.4664A>G (p.Asp1555Gly)
c.5429A>G (p.Asp1810Gly)
c.5618A>G (p.Asp1873Gly)
c.5411A>G (p.Asp1804Gly)
c.2114A>G (p.Asp705Gly)
n.1435A>G
n.916A>G
c.5615A>G (p.Asp1872Gly)
c.1939A>G
c.2126A>G (p.Asp709Gly)
c.*5335A>G (n.*5335A>G)
c.*66A>G (n.*66A>G)
c.482A>G (p.Asp161Gly)
c.1025A>G (p.Asp342Gly)
c.251A>G (p.Asp84Gly)
n.5688A>G
n.5729A>G
 ClinVar dbSNP
17g.43045718T>GCA10590217BRCA1c.5549A>C (p.Asp1850Ala)
c.5552A>C (p.Asp1851Ala)
c.5426A>C (p.Asp1809Ala)
c.5546A>C (p.Asp1849Ala)
c.5474A>C (p.Asp1825Ala)
c.2240A>C (p.Asp747Ala)
c.2102A>C (p.Asp701Ala)
c.4664A>C (p.Asp1555Ala)
c.5429A>C (p.Asp1810Ala)
c.5618A>C (p.Asp1873Ala)
c.5411A>C (p.Asp1804Ala)
c.2114A>C (p.Asp705Ala)
n.1435A>C
n.916A>C
c.5615A>C (p.Asp1872Ala)
c.1939A>C
c.2126A>C (p.Asp709Ala)
c.*5335A>C (n.*5335A>C)
c.*66A>C (n.*66A>C)
c.482A>C (p.Asp161Ala)
c.1025A>C (p.Asp342Ala)
c.251A>C (p.Asp84Ala)
n.5688A>C
n.5729A>C
 ClinVar dbSNP
17g.43045718T=CA2260761051BRCA1c.5549A= (p.Asp1850=)
c.5552A= (p.Asp1851=)
c.5426A= (p.Asp1809=)
c.5546A= (p.Asp1849=)
c.5474A= (p.Asp1825=)
c.2240A= (p.Asp747=)
c.2102A= (p.Asp701=)
c.4664A= (p.Asp1555=)
c.5429A= (p.Asp1810=)
c.5618A= (p.Asp1873=)
c.5411A= (p.Asp1804=)
c.2114A= (p.Asp705=)
n.1435A=
n.916A=
c.5615A= (p.Asp1872=)
c.1939A=
c.2126A= (p.Asp709=)
c.*5335A= (n.*5335A=)
c.*66A= (n.*66A=)
c.482A= (p.Asp161=)
c.1025A= (p.Asp342=)
c.251A= (p.Asp84=)
n.5688A=
n.5729A=
17g.43045718_43045719delinsTCCA2260761050BRCA1c.5548_5549delinsGA (p.Asp1850=)
c.5551_5552delinsGA (p.Asp1851=)
c.5425_5426delinsGA (p.Asp1809=)
c.5545_5546delinsGA (p.Asp1849=)
c.5473_5474delinsGA (p.Asp1825=)
c.2239_2240delinsGA (p.Asp747=)
c.2101_2102delinsGA (p.Asp701=)
c.4663_4664delinsGA (p.Asp1555=)
c.5428_5429delinsGA (p.Asp1810=)
c.5617_5618delinsGA (p.Asp1873=)
c.5410_5411delinsGA (p.Asp1804=)
c.2113_2114delinsGA (p.Asp705=)
n.1434_1435delinsGA
n.915_916delinsGA
c.5614_5615delinsGA (p.Asp1872=)
c.1938_1939delinsGA
c.2125_2126delinsGA (p.Asp709=)
c.*5334_*5335delinsGA (n.*5334_*5335delinsGA)
c.*65_*66delinsGA (n.*65_*66delinsGA)
c.481_482delinsGA (p.Asp161=)
c.1024_1025delinsGA (p.Asp342=)
c.250_251delinsGA (p.Asp84=)
n.5687_5688delinsGA
n.5728_5729delinsGA
17g.43045718_43045719insACA2825002510BRCA1c.5548_5549insT (p.Asp1850ValfsTer29)
c.5551_5552insT (p.Asp1851ValfsTer29)
c.5425_5426insT (p.Asp1809ValfsTer29)
c.5545_5546insT (p.Asp1849ValfsTer29)
c.5473_5474insT (p.Asp1825ValfsTer29)
c.2239_2240insT (p.Asp747ValfsTer29)
c.2101_2102insT (p.Asp701ValfsTer29)
c.4663_4664insT (p.Asp1555ValfsTer29)
c.5428_5429insT (p.Asp1810ValfsTer29)
c.5617_5618insT (p.Asp1873ValfsTer29)
c.5410_5411insT (p.Asp1804ValfsTer29)
c.2113_2114insT (p.Asp705ValfsTer29)
n.1434_1435insT
n.915_916insT
c.5614_5615insT (p.Asp1872ValfsTer29)
c.1938_1939insT
c.2125_2126insT (p.Asp709ValfsTer29)
c.*5334_*5335insT (n.*5334_*5335insT)
c.*65_*66insT (n.*65_*66insT)
c.2239_2240insT (p.Asp747ValfsTer?)
c.481_482insT (p.Asp161ValfsTer29)
c.1024_1025insT (p.Asp342ValfsTer29)
c.250_251insT (p.Asp84ValfsTer29)
n.5687_5688insT
n.5728_5729insT
 ClinVar
17g.43045719C>ACA10590218BRCA1c.5548G>T (p.Asp1850Tyr)
c.5551G>T (p.Asp1851Tyr)
c.5425G>T (p.Asp1809Tyr)
c.5545G>T (p.Asp1849Tyr)
c.5473G>T (p.Asp1825Tyr)
c.2239G>T (p.Asp747Tyr)
c.2101G>T (p.Asp701Tyr)
c.4663G>T (p.Asp1555Tyr)
c.5428G>T (p.Asp1810Tyr)
c.5617G>T (p.Asp1873Tyr)
c.5410G>T (p.Asp1804Tyr)
c.2113G>T (p.Asp705Tyr)
n.1434G>T
n.915G>T
c.5614G>T (p.Asp1872Tyr)
c.1938G>T
c.2125G>T (p.Asp709Tyr)
c.*5334G>T (n.*5334G>T)
c.*65G>T (n.*65G>T)
c.481G>T (p.Asp161Tyr)
c.1024G>T (p.Asp342Tyr)
c.250G>T (p.Asp84Tyr)
n.5687G>T
n.5728G>T
 ClinVar dbSNP
17g.43045719C=CA2260761052BRCA1c.5548G= (p.Asp1850=)
c.5551G= (p.Asp1851=)
c.5425G= (p.Asp1809=)
c.5545G= (p.Asp1849=)
c.5473G= (p.Asp1825=)
c.2239G= (p.Asp747=)
c.2101G= (p.Asp701=)
c.4663G= (p.Asp1555=)
c.5428G= (p.Asp1810=)
c.5617G= (p.Asp1873=)
c.5410G= (p.Asp1804=)
c.2113G= (p.Asp705=)
n.1434G=
n.915G=
c.5614G= (p.Asp1872=)
c.1938G=
c.2125G= (p.Asp709=)
c.*5334G= (n.*5334G=)
c.*65G= (n.*65G=)
c.481G= (p.Asp161=)
c.1024G= (p.Asp342=)
c.250G= (p.Asp84=)
n.5687G=
n.5728G=
17g.43045719C>GCA10590219BRCA1c.5548G>C (p.Asp1850His)
c.5551G>C (p.Asp1851His)
c.5425G>C (p.Asp1809His)
c.5545G>C (p.Asp1849His)
c.5473G>C (p.Asp1825His)
c.2239G>C (p.Asp747His)
c.2101G>C (p.Asp701His)
c.4663G>C (p.Asp1555His)
c.5428G>C (p.Asp1810His)
c.5617G>C (p.Asp1873His)
c.5410G>C (p.Asp1804His)
c.2113G>C (p.Asp705His)
n.1434G>C
n.915G>C
c.5614G>C (p.Asp1872His)
c.1938G>C
c.2125G>C (p.Asp709His)
c.*5334G>C (n.*5334G>C)
c.*65G>C (n.*65G>C)
c.481G>C (p.Asp161His)
c.1024G>C (p.Asp342His)
c.250G>C (p.Asp84His)
n.5687G>C
n.5728G>C
 ClinVar dbSNP
17g.43045719C>TCA10590220BRCA1c.5548G>A (p.Asp1850Asn)
c.5551G>A (p.Asp1851Asn)
c.5425G>A (p.Asp1809Asn)
c.5545G>A (p.Asp1849Asn)
c.5473G>A (p.Asp1825Asn)
c.2239G>A (p.Asp747Asn)
c.2101G>A (p.Asp701Asn)
c.4663G>A (p.Asp1555Asn)
c.5428G>A (p.Asp1810Asn)
c.5617G>A (p.Asp1873Asn)
c.5410G>A (p.Asp1804Asn)
c.2113G>A (p.Asp705Asn)
n.1434G>A
n.915G>A
c.5614G>A (p.Asp1872Asn)
c.1938G>A
c.2125G>A (p.Asp709Asn)
c.*5334G>A (n.*5334G>A)
c.*65G>A (n.*65G>A)
c.481G>A (p.Asp161Asn)
c.1024G>A (p.Asp342Asn)
c.250G>A (p.Asp84Asn)
n.5687G>A
n.5728G>A
 ClinVar dbSNP
17g.43045720delCA10589582BRCA1c.5548del (p.Asp1850ThrfsTer4)
c.5551del (p.Asp1851ThrfsTer4)
c.5425del (p.Asp1809ThrfsTer4)
c.5545del (p.Asp1849ThrfsTer4)
c.5473del (p.Asp1825ThrfsTer4)
c.2239del (p.Asp747ThrfsTer4)
c.2101del (p.Asp701ThrfsTer4)
c.4663del (p.Asp1555ThrfsTer4)
c.5428del (p.Asp1810ThrfsTer4)
c.5617del (p.Asp1873ThrfsTer4)
c.5410del (p.Asp1804ThrfsTer4)
c.2113del (p.Asp705ThrfsTer4)
n.1434del
n.915del
c.5614del (p.Asp1872ThrfsTer4)
c.1938del
c.2125del (p.Asp709ThrfsTer4)
c.*5334del (n.*5334del)
c.*65del (n.*65del)
c.481del (p.Asp161ThrfsTer4)
c.1024del (p.Asp342ThrfsTer4)
c.250del (p.Asp84ThrfsTer4)
n.5687del
n.5728del
 ClinVar dbSNP
17g.43045720C>ACA500142886BRCA1c.5547G>T (p.Leu1849=)
c.5550G>T (p.Leu1850=)
c.5424G>T (p.Leu1808=)
c.5544G>T (p.Leu1848=)
c.5472G>T (p.Leu1824=)
c.2238G>T (p.Leu746=)
c.2100G>T (p.Leu700=)
c.4662G>T (p.Leu1554=)
c.5427G>T (p.Leu1809=)
c.5616G>T (p.Leu1872=)
c.5409G>T (p.Leu1803=)
c.2112G>T (p.Leu704=)
n.1433G>T
n.914G>T
c.5613G>T (p.Leu1871=)
c.1937G>T
c.2124G>T (p.Leu708=)
c.*5333G>T (n.*5333G>T)
c.*64G>T (n.*64G>T)
c.480G>T (p.Leu160=)
c.1023G>T (p.Leu341=)
c.249G>T (p.Leu83=)
n.5686G>T
n.5727G>T
 ClinVar dbSNP
17g.43045720C=CA2260761053BRCA1c.5547G= (p.Leu1849=)
c.5550G= (p.Leu1850=)
c.5424G= (p.Leu1808=)
c.5544G= (p.Leu1848=)
c.5472G= (p.Leu1824=)
c.2238G= (p.Leu746=)
c.2100G= (p.Leu700=)
c.4662G= (p.Leu1554=)
c.5427G= (p.Leu1809=)
c.5616G= (p.Leu1872=)
c.5409G= (p.Leu1803=)
c.2112G= (p.Leu704=)
n.1433G=
n.914G=
c.5613G= (p.Leu1871=)
c.1937G=
c.2124G= (p.Leu708=)
c.*5333G= (n.*5333G=)
c.*64G= (n.*64G=)
c.480G= (p.Leu160=)
c.1023G= (p.Leu341=)
c.249G= (p.Leu83=)
n.5686G=
n.5727G=
17g.43045720C>GCA003709BRCA1c.5547G>C (p.Leu1849=)
c.5550G>C (p.Leu1850=)
c.5424G>C (p.Leu1808=)
c.5544G>C (p.Leu1848=)
c.5472G>C (p.Leu1824=)
c.2238G>C (p.Leu746=)
c.2100G>C (p.Leu700=)
c.4662G>C (p.Leu1554=)
c.5427G>C (p.Leu1809=)
c.5616G>C (p.Leu1872=)
c.5409G>C (p.Leu1803=)
c.2112G>C (p.Leu704=)
n.1433G>C
n.914G>C
c.5613G>C (p.Leu1871=)
c.1937G>C
c.2124G>C (p.Leu708=)
c.*5333G>C (n.*5333G>C)
c.*64G>C (n.*64G>C)
c.480G>C (p.Leu160=)
c.1023G>C (p.Leu341=)
c.249G>C (p.Leu83=)
n.5686G>C
n.5727G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045720C>TCA16609840BRCA1c.5547G>A (p.Leu1849=)
c.5550G>A (p.Leu1850=)
c.5424G>A (p.Leu1808=)
c.5544G>A (p.Leu1848=)
c.5472G>A (p.Leu1824=)
c.2238G>A (p.Leu746=)
c.2100G>A (p.Leu700=)
c.4662G>A (p.Leu1554=)
c.5427G>A (p.Leu1809=)
c.5616G>A (p.Leu1872=)
c.5409G>A (p.Leu1803=)
c.2112G>A (p.Leu704=)
n.1433G>A
n.914G>A
c.5613G>A (p.Leu1871=)
c.1937G>A
c.2124G>A (p.Leu708=)
c.*5333G>A (n.*5333G>A)
c.*64G>A (n.*64G>A)
c.480G>A (p.Leu160=)
c.1023G>A (p.Leu341=)
c.249G>A (p.Leu83=)
n.5686G>A
n.5727G>A
 ClinVar dbSNP
17g.43045721A=CA2260761055BRCA1c.5546T= (p.Leu1849=)
c.5549T= (p.Leu1850=)
c.5423T= (p.Leu1808=)
c.5543T= (p.Leu1848=)
c.5471T= (p.Leu1824=)
c.2237T= (p.Leu746=)
c.2099T= (p.Leu700=)
c.4661T= (p.Leu1554=)
c.5426T= (p.Leu1809=)
c.5615T= (p.Leu1872=)
c.5408T= (p.Leu1803=)
c.2111T= (p.Leu704=)
n.1432T=
n.913T=
c.5612T= (p.Leu1871=)
c.1936T=
c.2123T= (p.Leu708=)
c.*5332T= (n.*5332T=)
c.*63T= (n.*63T=)
c.479T= (p.Leu160=)
c.1022T= (p.Leu341=)
c.248T= (p.Leu83=)
n.5685T=
n.5726T=
17g.43045721A>CCA10590221BRCA1c.5546T>G (p.Leu1849Arg)
c.5549T>G (p.Leu1850Arg)
c.5423T>G (p.Leu1808Arg)
c.5543T>G (p.Leu1848Arg)
c.5471T>G (p.Leu1824Arg)
c.2237T>G (p.Leu746Arg)
c.2099T>G (p.Leu700Arg)
c.4661T>G (p.Leu1554Arg)
c.5426T>G (p.Leu1809Arg)
c.5615T>G (p.Leu1872Arg)
c.5408T>G (p.Leu1803Arg)
c.2111T>G (p.Leu704Arg)
n.1432T>G
n.913T>G
c.5612T>G (p.Leu1871Arg)
c.1936T>G
c.2123T>G (p.Leu708Arg)
c.*5332T>G (n.*5332T>G)
c.*63T>G (n.*63T>G)
c.479T>G (p.Leu160Arg)
c.1022T>G (p.Leu341Arg)
c.248T>G (p.Leu83Arg)
n.5685T>G
n.5726T>G
 ClinVar dbSNP
17g.43045721A>GCA10590222BRCA1c.5546T>C (p.Leu1849Pro)
c.5549T>C (p.Leu1850Pro)
c.5423T>C (p.Leu1808Pro)
c.5543T>C (p.Leu1848Pro)
c.5471T>C (p.Leu1824Pro)
c.2237T>C (p.Leu746Pro)
c.2099T>C (p.Leu700Pro)
c.4661T>C (p.Leu1554Pro)
c.5426T>C (p.Leu1809Pro)
c.5615T>C (p.Leu1872Pro)
c.5408T>C (p.Leu1803Pro)
c.2111T>C (p.Leu704Pro)
n.1432T>C
n.913T>C
c.5612T>C (p.Leu1871Pro)
c.1936T>C
c.2123T>C (p.Leu708Pro)
c.*5332T>C (n.*5332T>C)
c.*63T>C (n.*63T>C)
c.479T>C (p.Leu160Pro)
c.1022T>C (p.Leu341Pro)
c.248T>C (p.Leu83Pro)
n.5685T>C
n.5726T>C
 ClinVar dbSNP
17g.43045721A>TCA10590223BRCA1c.5546T>A (p.Leu1849Gln)
c.5549T>A (p.Leu1850Gln)
c.5423T>A (p.Leu1808Gln)
c.5543T>A (p.Leu1848Gln)
c.5471T>A (p.Leu1824Gln)
c.2237T>A (p.Leu746Gln)
c.2099T>A (p.Leu700Gln)
c.4661T>A (p.Leu1554Gln)
c.5426T>A (p.Leu1809Gln)
c.5615T>A (p.Leu1872Gln)
c.5408T>A (p.Leu1803Gln)
c.2111T>A (p.Leu704Gln)
n.1432T>A
n.913T>A
c.5612T>A (p.Leu1871Gln)
c.1936T>A
c.2123T>A (p.Leu708Gln)
c.*5332T>A (n.*5332T>A)
c.*63T>A (n.*63T>A)
c.479T>A (p.Leu160Gln)
c.1022T>A (p.Leu341Gln)
c.248T>A (p.Leu83Gln)
n.5685T>A
n.5726T>A
 ClinVar dbSNP
17g.43045721delinsTGCA2825002511BRCA1c.5546delinsCA (p.Leu1849ProfsTer30)
c.5549delinsCA (p.Leu1850ProfsTer30)
c.5423delinsCA (p.Leu1808ProfsTer30)
c.5543delinsCA (p.Leu1848ProfsTer30)
c.5471delinsCA (p.Leu1824ProfsTer30)
c.2237delinsCA (p.Leu746ProfsTer30)
c.2099delinsCA (p.Leu700ProfsTer30)
c.4661delinsCA (p.Leu1554ProfsTer30)
c.5426delinsCA (p.Leu1809ProfsTer30)
c.5615delinsCA (p.Leu1872ProfsTer30)
c.5408delinsCA (p.Leu1803ProfsTer30)
c.2111delinsCA (p.Leu704ProfsTer30)
n.1432delinsCA
n.913delinsCA
c.5612delinsCA (p.Leu1871ProfsTer30)
c.1936delinsCA
c.2123delinsCA (p.Leu708ProfsTer30)
c.*5332delinsCA (n.*5332delinsCA)
c.*63delinsCA (n.*63delinsCA)
c.2237delinsCA (p.Leu746ProfsTer?)
c.479delinsCA (p.Leu160ProfsTer30)
c.1022delinsCA (p.Leu341ProfsTer30)
c.248delinsCA (p.Leu83ProfsTer30)
n.5685delinsCA
n.5726delinsCA
 ClinVar
17g.43045721_43045722delinsAGCA2260761054BRCA1c.5545_5546delinsCT (p.Leu1849=)
c.5548_5549delinsCT (p.Leu1850=)
c.5422_5423delinsCT (p.Leu1808=)
c.5542_5543delinsCT (p.Leu1848=)
c.5470_5471delinsCT (p.Leu1824=)
c.2236_2237delinsCT (p.Leu746=)
c.2098_2099delinsCT (p.Leu700=)
c.4660_4661delinsCT (p.Leu1554=)
c.5425_5426delinsCT (p.Leu1809=)
c.5614_5615delinsCT (p.Leu1872=)
c.5407_5408delinsCT (p.Leu1803=)
c.2110_2111delinsCT (p.Leu704=)
n.1431_1432delinsCT
n.912_913delinsCT
c.5611_5612delinsCT (p.Leu1871=)
c.1935_1936delinsCT
c.2122_2123delinsCT (p.Leu708=)
c.*5331_*5332delinsCT (n.*5331_*5332delinsCT)
c.*62_*63delinsCT (n.*62_*63delinsCT)
c.478_479delinsCT (p.Leu160=)
c.1021_1022delinsCT (p.Leu341=)
c.247_248delinsCT (p.Leu83=)
n.5684_5685delinsCT
n.5725_5726delinsCT
17g.43045722delCA003707BRCA1c.5545del (p.Leu1849TrpfsTer5)
c.5548del (p.Leu1850TrpfsTer5)
c.5422del (p.Leu1808TrpfsTer5)
c.5542del (p.Leu1848TrpfsTer5)
c.5470del (p.Leu1824TrpfsTer5)
c.2236del (p.Leu746TrpfsTer5)
c.2098del (p.Leu700TrpfsTer5)
c.4660del (p.Leu1554TrpfsTer5)
c.5425del (p.Leu1809TrpfsTer5)
c.5614del (p.Leu1872TrpfsTer5)
c.5407del (p.Leu1803TrpfsTer5)
c.2110del (p.Leu704TrpfsTer5)
n.1431del
n.912del
c.5611del (p.Leu1871TrpfsTer5)
c.1935del
c.2122del (p.Leu708TrpfsTer5)
c.*5331del (n.*5331del)
c.*62del (n.*62del)
c.478del (p.Leu160TrpfsTer5)
c.1021del (p.Leu341TrpfsTer5)
c.247del (p.Leu83TrpfsTer5)
n.5684del
n.5725del
 ClinVar dbSNP
17g.43045722G>ACA500142887BRCA1c.5545C>T (p.Leu1849=)
c.5548C>T (p.Leu1850=)
c.5422C>T (p.Leu1808=)
c.5542C>T (p.Leu1848=)
c.5470C>T (p.Leu1824=)
c.2236C>T (p.Leu746=)
c.2098C>T (p.Leu700=)
c.4660C>T (p.Leu1554=)
c.5425C>T (p.Leu1809=)
c.5614C>T (p.Leu1872=)
c.5407C>T (p.Leu1803=)
c.2110C>T (p.Leu704=)
n.1431C>T
n.912C>T
c.5611C>T (p.Leu1871=)
c.1935C>T
c.2122C>T (p.Leu708=)
c.*5331C>T (n.*5331C>T)
c.*62C>T (n.*62C>T)
c.478C>T (p.Leu160=)
c.1021C>T (p.Leu341=)
c.247C>T (p.Leu83=)
n.5684C>T
n.5725C>T
 ClinVar dbSNP
17g.43045722G>CCA10590224BRCA1c.5545C>G (p.Leu1849Val)
c.5548C>G (p.Leu1850Val)
c.5422C>G (p.Leu1808Val)
c.5542C>G (p.Leu1848Val)
c.5470C>G (p.Leu1824Val)
c.2236C>G (p.Leu746Val)
c.2098C>G (p.Leu700Val)
c.4660C>G (p.Leu1554Val)
c.5425C>G (p.Leu1809Val)
c.5614C>G (p.Leu1872Val)
c.5407C>G (p.Leu1803Val)
c.2110C>G (p.Leu704Val)
n.1431C>G
n.912C>G
c.5611C>G (p.Leu1871Val)
c.1935C>G
c.2122C>G (p.Leu708Val)
c.*5331C>G (n.*5331C>G)
c.*62C>G (n.*62C>G)
c.478C>G (p.Leu160Val)
c.1021C>G (p.Leu341Val)
c.247C>G (p.Leu83Val)
n.5684C>G
n.5725C>G
 ClinVar dbSNP
17g.43045722G=CA2260761056BRCA1c.5545C= (p.Leu1849=)
c.5548C= (p.Leu1850=)
c.5422C= (p.Leu1808=)
c.5542C= (p.Leu1848=)
c.5470C= (p.Leu1824=)
c.2236C= (p.Leu746=)
c.2098C= (p.Leu700=)
c.4660C= (p.Leu1554=)
c.5425C= (p.Leu1809=)
c.5614C= (p.Leu1872=)
c.5407C= (p.Leu1803=)
c.2110C= (p.Leu704=)
n.1431C=
n.912C=
c.5611C= (p.Leu1871=)
c.1935C=
c.2122C= (p.Leu708=)
c.*5331C= (n.*5331C=)
c.*62C= (n.*62C=)
c.478C= (p.Leu160=)
c.1021C= (p.Leu341=)
c.247C= (p.Leu83=)
n.5684C=
n.5725C=
17g.43045722G>TCA10590225BRCA1c.5545C>A (p.Leu1849Met)
c.5548C>A (p.Leu1850Met)
c.5422C>A (p.Leu1808Met)
c.5542C>A (p.Leu1848Met)
c.5470C>A (p.Leu1824Met)
c.2236C>A (p.Leu746Met)
c.2098C>A (p.Leu700Met)
c.4660C>A (p.Leu1554Met)
c.5425C>A (p.Leu1809Met)
c.5614C>A (p.Leu1872Met)
c.5407C>A (p.Leu1803Met)
c.2110C>A (p.Leu704Met)
n.1431C>A
n.912C>A
c.5611C>A (p.Leu1871Met)
c.1935C>A
c.2122C>A (p.Leu708Met)
c.*5331C>A (n.*5331C>A)
c.*62C>A (n.*62C>A)
c.478C>A (p.Leu160Met)
c.1021C>A (p.Leu341Met)
c.247C>A (p.Leu83Met)
n.5684C>A
n.5725C>A
 ClinVar dbSNP
17g.43045723C>ACA10590226BRCA1c.5544G>T (p.Glu1848Asp)
c.5547G>T (p.Glu1849Asp)
c.5421G>T (p.Glu1807Asp)
c.5541G>T (p.Glu1847Asp)
c.5469G>T (p.Glu1823Asp)
c.2235G>T (p.Glu745Asp)
c.2097G>T (p.Glu699Asp)
c.4659G>T (p.Glu1553Asp)
c.5424G>T (p.Glu1808Asp)
c.5613G>T (p.Glu1871Asp)
c.5406G>T (p.Glu1802Asp)
c.2109G>T (p.Glu703Asp)
n.1430G>T
n.911G>T
c.5610G>T (p.Glu1870Asp)
c.1934G>T
c.2121G>T (p.Glu707Asp)
c.*5330G>T (n.*5330G>T)
c.*61G>T (n.*61G>T)
c.477G>T (p.Glu159Asp)
c.1020G>T (p.Glu340Asp)
c.246G>T (p.Glu82Asp)
n.5683G>T
n.5724G>T
 ClinVar dbSNP gnomAD v4
17g.43045723C=CA2260761057BRCA1c.5544G= (p.Glu1848=)
c.5547G= (p.Glu1849=)
c.5421G= (p.Glu1807=)
c.5541G= (p.Glu1847=)
c.5469G= (p.Glu1823=)
c.2235G= (p.Glu745=)
c.2097G= (p.Glu699=)
c.4659G= (p.Glu1553=)
c.5424G= (p.Glu1808=)
c.5613G= (p.Glu1871=)
c.5406G= (p.Glu1802=)
c.2109G= (p.Glu703=)
n.1430G=
n.911G=
c.5610G= (p.Glu1870=)
c.1934G=
c.2121G= (p.Glu707=)
c.*5330G= (n.*5330G=)
c.*61G= (n.*61G=)
c.477G= (p.Glu159=)
c.1020G= (p.Glu340=)
c.246G= (p.Glu82=)
n.5683G=
n.5724G=
17g.43045723C>GCA10590227BRCA1c.5544G>C (p.Glu1848Asp)
c.5547G>C (p.Glu1849Asp)
c.5421G>C (p.Glu1807Asp)
c.5541G>C (p.Glu1847Asp)
c.5469G>C (p.Glu1823Asp)
c.2235G>C (p.Glu745Asp)
c.2097G>C (p.Glu699Asp)
c.4659G>C (p.Glu1553Asp)
c.5424G>C (p.Glu1808Asp)
c.5613G>C (p.Glu1871Asp)
c.5406G>C (p.Glu1802Asp)
c.2109G>C (p.Glu703Asp)
n.1430G>C
n.911G>C
c.5610G>C (p.Glu1870Asp)
c.1934G>C
c.2121G>C (p.Glu707Asp)
c.*5330G>C (n.*5330G>C)
c.*61G>C (n.*61G>C)
c.477G>C (p.Glu159Asp)
c.1020G>C (p.Glu340Asp)
c.246G>C (p.Glu82Asp)
n.5683G>C
n.5724G>C
 ClinVar dbSNP
17g.43045723C>TCA500142888BRCA1c.5544G>A (p.Glu1848=)
c.5547G>A (p.Glu1849=)
c.5421G>A (p.Glu1807=)
c.5541G>A (p.Glu1847=)
c.5469G>A (p.Glu1823=)
c.2235G>A (p.Glu745=)
c.2097G>A (p.Glu699=)
c.4659G>A (p.Glu1553=)
c.5424G>A (p.Glu1808=)
c.5613G>A (p.Glu1871=)
c.5406G>A (p.Glu1802=)
c.2109G>A (p.Glu703=)
n.1430G>A
n.911G>A
c.5610G>A (p.Glu1870=)
c.1934G>A
c.2121G>A (p.Glu707=)
c.*5330G>A (n.*5330G>A)
c.*61G>A (n.*61G>A)
c.477G>A (p.Glu159=)
c.1020G>A (p.Glu340=)
c.246G>A (p.Glu82=)
n.5683G>A
n.5724G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045724T>ACA10590228BRCA1c.5543A>T (p.Glu1848Val)
c.5546A>T (p.Glu1849Val)
c.5420A>T (p.Glu1807Val)
c.5540A>T (p.Glu1847Val)
c.5468A>T (p.Glu1823Val)
c.2234A>T (p.Glu745Val)
c.2096A>T (p.Glu699Val)
c.4658A>T (p.Glu1553Val)
c.5423A>T (p.Glu1808Val)
c.5612A>T (p.Glu1871Val)
c.5405A>T (p.Glu1802Val)
c.2108A>T (p.Glu703Val)
n.1429A>T
n.910A>T
c.5609A>T (p.Glu1870Val)
c.1933A>T
c.2120A>T (p.Glu707Val)
c.*5329A>T (n.*5329A>T)
c.*60A>T (n.*60A>T)
c.476A>T (p.Glu159Val)
c.1019A>T (p.Glu340Val)
c.245A>T (p.Glu82Val)
n.5682A>T
n.5723A>T
 ClinVar dbSNP
17g.43045724T>CCA10590229BRCA1c.5543A>G (p.Glu1848Gly)
c.5546A>G (p.Glu1849Gly)
c.5420A>G (p.Glu1807Gly)
c.5540A>G (p.Glu1847Gly)
c.5468A>G (p.Glu1823Gly)
c.2234A>G (p.Glu745Gly)
c.2096A>G (p.Glu699Gly)
c.4658A>G (p.Glu1553Gly)
c.5423A>G (p.Glu1808Gly)
c.5612A>G (p.Glu1871Gly)
c.5405A>G (p.Glu1802Gly)
c.2108A>G (p.Glu703Gly)
n.1429A>G
n.910A>G
c.5609A>G (p.Glu1870Gly)
c.1933A>G
c.2120A>G (p.Glu707Gly)
c.*5329A>G (n.*5329A>G)
c.*60A>G (n.*60A>G)
c.476A>G (p.Glu159Gly)
c.1019A>G (p.Glu340Gly)
c.245A>G (p.Glu82Gly)
n.5682A>G
n.5723A>G
 ClinVar dbSNP
17g.43045724T>GCA10590230BRCA1c.5543A>C (p.Glu1848Ala)
c.5546A>C (p.Glu1849Ala)
c.5420A>C (p.Glu1807Ala)
c.5540A>C (p.Glu1847Ala)
c.5468A>C (p.Glu1823Ala)
c.2234A>C (p.Glu745Ala)
c.2096A>C (p.Glu699Ala)
c.4658A>C (p.Glu1553Ala)
c.5423A>C (p.Glu1808Ala)
c.5612A>C (p.Glu1871Ala)
c.5405A>C (p.Glu1802Ala)
c.2108A>C (p.Glu703Ala)
n.1429A>C
n.910A>C
c.5609A>C (p.Glu1870Ala)
c.1933A>C
c.2120A>C (p.Glu707Ala)
c.*5329A>C (n.*5329A>C)
c.*60A>C (n.*60A>C)
c.476A>C (p.Glu159Ala)
c.1019A>C (p.Glu340Ala)
c.245A>C (p.Glu82Ala)
n.5682A>C
n.5723A>C
 ClinVar dbSNP
17g.43045724T=CA2260761059BRCA1c.5543A= (p.Glu1848=)
c.5546A= (p.Glu1849=)
c.5420A= (p.Glu1807=)
c.5540A= (p.Glu1847=)
c.5468A= (p.Glu1823=)
c.2234A= (p.Glu745=)
c.2096A= (p.Glu699=)
c.4658A= (p.Glu1553=)
c.5423A= (p.Glu1808=)
c.5612A= (p.Glu1871=)
c.5405A= (p.Glu1802=)
c.2108A= (p.Glu703=)
n.1429A=
n.910A=
c.5609A= (p.Glu1870=)
c.1933A=
c.2120A= (p.Glu707=)
c.*5329A= (n.*5329A=)
c.*60A= (n.*60A=)
c.476A= (p.Glu159=)
c.1019A= (p.Glu340=)
c.245A= (p.Glu82=)
n.5682A=
n.5723A=
17g.43045724_43045727delinsTCCTCA2260761058BRCA1c.5540_5543delinsAGGA (p.Gln1847=)
c.5543_5546delinsAGGA (p.Gln1848=)
c.5417_5420delinsAGGA (p.Gln1806=)
c.5537_5540delinsAGGA (p.Gln1846=)
c.5465_5468delinsAGGA (p.Gln1822=)
c.2231_2234delinsAGGA (p.Gln744=)
c.2093_2096delinsAGGA (p.Gln698=)
c.4655_4658delinsAGGA (p.Gln1552=)
c.5420_5423delinsAGGA (p.Gln1807=)
c.5609_5612delinsAGGA (p.Gln1870=)
c.5402_5405delinsAGGA (p.Gln1801=)
c.2105_2108delinsAGGA (p.Gln702=)
n.1426_1429delinsAGGA
n.907_910delinsAGGA
c.5606_5609delinsAGGA (p.Gln1869=)
c.1930_1933delinsAGGA
c.2117_2120delinsAGGA (p.Gln706=)
c.*5326_*5329delinsAGGA (n.*5326_*5329delinsAGGA)
c.*57_*60delinsAGGA (n.*57_*60delinsAGGA)
c.473_476delinsAGGA (p.Gln158=)
c.1016_1019delinsAGGA (p.Gln339=)
c.242_245delinsAGGA (p.Gln81=)
n.5679_5682delinsAGGA
n.5720_5723delinsAGGA
17g.43045725C>ACA10590231BRCA1c.5542G>T (p.Glu1848Ter)
c.5545G>T (p.Glu1849Ter)
c.5419G>T (p.Glu1807Ter)
c.5539G>T (p.Glu1847Ter)
c.5467G>T (p.Glu1823Ter)
c.2233G>T (p.Glu745Ter)
c.2095G>T (p.Glu699Ter)
c.4657G>T (p.Glu1553Ter)
c.5422G>T (p.Glu1808Ter)
c.5611G>T (p.Glu1871Ter)
c.5404G>T (p.Glu1802Ter)
c.2107G>T (p.Glu703Ter)
n.1428G>T
n.909G>T
c.5608G>T (p.Glu1870Ter)
c.1932G>T
c.2119G>T (p.Glu707Ter)
c.*5328G>T (n.*5328G>T)
c.*59G>T (n.*59G>T)
c.475G>T (p.Glu159Ter)
c.1018G>T (p.Glu340Ter)
c.244G>T (p.Glu82Ter)
n.5681G>T
n.5722G>T
 ClinVar dbSNP
17g.43045725C=CA2260761060BRCA1c.5542G= (p.Glu1848=)
c.5545G= (p.Glu1849=)
c.5419G= (p.Glu1807=)
c.5539G= (p.Glu1847=)
c.5467G= (p.Glu1823=)
c.2233G= (p.Glu745=)
c.2095G= (p.Glu699=)
c.4657G= (p.Glu1553=)
c.5422G= (p.Glu1808=)
c.5611G= (p.Glu1871=)
c.5404G= (p.Glu1802=)
c.2107G= (p.Glu703=)
n.1428G=
n.909G=
c.5608G= (p.Glu1870=)
c.1932G=
c.2119G= (p.Glu707=)
c.*5328G= (n.*5328G=)
c.*59G= (n.*59G=)
c.475G= (p.Glu159=)
c.1018G= (p.Glu340=)
c.244G= (p.Glu82=)
n.5681G=
n.5722G=
17g.43045725C>GCA10590232BRCA1c.5542G>C (p.Glu1848Gln)
c.5545G>C (p.Glu1849Gln)
c.5419G>C (p.Glu1807Gln)
c.5539G>C (p.Glu1847Gln)
c.5467G>C (p.Glu1823Gln)
c.2233G>C (p.Glu745Gln)
c.2095G>C (p.Glu699Gln)
c.4657G>C (p.Glu1553Gln)
c.5422G>C (p.Glu1808Gln)
c.5611G>C (p.Glu1871Gln)
c.5404G>C (p.Glu1802Gln)
c.2107G>C (p.Glu703Gln)
n.1428G>C
n.909G>C
c.5608G>C (p.Glu1870Gln)
c.1932G>C
c.2119G>C (p.Glu707Gln)
c.*5328G>C (n.*5328G>C)
c.*59G>C (n.*59G>C)
c.475G>C (p.Glu159Gln)
c.1018G>C (p.Glu340Gln)
c.244G>C (p.Glu82Gln)
n.5681G>C
n.5722G>C
 ClinVar dbSNP
17g.43045725C>TCA10590233BRCA1c.5542G>A (p.Glu1848Lys)
c.5545G>A (p.Glu1849Lys)
c.5419G>A (p.Glu1807Lys)
c.5539G>A (p.Glu1847Lys)
c.5467G>A (p.Glu1823Lys)
c.2233G>A (p.Glu745Lys)
c.2095G>A (p.Glu699Lys)
c.4657G>A (p.Glu1553Lys)
c.5422G>A (p.Glu1808Lys)
c.5611G>A (p.Glu1871Lys)
c.5404G>A (p.Glu1802Lys)
c.2107G>A (p.Glu703Lys)
n.1428G>A
n.909G>A
c.5608G>A (p.Glu1870Lys)
c.1932G>A
c.2119G>A (p.Glu707Lys)
c.*5328G>A (n.*5328G>A)
c.*59G>A (n.*59G>A)
c.475G>A (p.Glu159Lys)
c.1018G>A (p.Glu340Lys)
c.244G>A (p.Glu82Lys)
n.5681G>A
n.5722G>A
 ClinVar dbSNP
17g.43045726C>ACA10590234BRCA1c.5541G>T (p.Gln1847His)
c.5544G>T (p.Gln1848His)
c.5418G>T (p.Gln1806His)
c.5538G>T (p.Gln1846His)
c.5466G>T (p.Gln1822His)
c.2232G>T (p.Gln744His)
c.2094G>T (p.Gln698His)
c.4656G>T (p.Gln1552His)
c.5421G>T (p.Gln1807His)
c.5610G>T (p.Gln1870His)
c.5403G>T (p.Gln1801His)
c.2106G>T (p.Gln702His)
n.1427G>T
n.908G>T
c.5607G>T (p.Gln1869His)
c.1931G>T
c.2118G>T (p.Gln706His)
c.*5327G>T (n.*5327G>T)
c.*58G>T (n.*58G>T)
c.474G>T (p.Gln158His)
c.1017G>T (p.Gln339His)
c.243G>T (p.Gln81His)
n.5680G>T
n.5721G>T
 ClinVar dbSNP gnomAD v4
17g.43045726C=CA2260761061BRCA1c.5541G= (p.Gln1847=)
c.5544G= (p.Gln1848=)
c.5418G= (p.Gln1806=)
c.5538G= (p.Gln1846=)
c.5466G= (p.Gln1822=)
c.2232G= (p.Gln744=)
c.2094G= (p.Gln698=)
c.4656G= (p.Gln1552=)
c.5421G= (p.Gln1807=)
c.5610G= (p.Gln1870=)
c.5403G= (p.Gln1801=)
c.2106G= (p.Gln702=)
n.1427G=
n.908G=
c.5607G= (p.Gln1869=)
c.1931G=
c.2118G= (p.Gln706=)
c.*5327G= (n.*5327G=)
c.*58G= (n.*58G=)
c.474G= (p.Gln158=)
c.1017G= (p.Gln339=)
c.243G= (p.Gln81=)
n.5680G=
n.5721G=
17g.43045726C>GCA10590235BRCA1c.5541G>C (p.Gln1847His)
c.5544G>C (p.Gln1848His)
c.5418G>C (p.Gln1806His)
c.5538G>C (p.Gln1846His)
c.5466G>C (p.Gln1822His)
c.2232G>C (p.Gln744His)
c.2094G>C (p.Gln698His)
c.4656G>C (p.Gln1552His)
c.5421G>C (p.Gln1807His)
c.5610G>C (p.Gln1870His)
c.5403G>C (p.Gln1801His)
c.2106G>C (p.Gln702His)
n.1427G>C
n.908G>C
c.5607G>C (p.Gln1869His)
c.1931G>C
c.2118G>C (p.Gln706His)
c.*5327G>C (n.*5327G>C)
c.*58G>C (n.*58G>C)
c.474G>C (p.Gln158His)
c.1017G>C (p.Gln339His)
c.243G>C (p.Gln81His)
n.5680G>C
n.5721G>C
 ClinVar dbSNP
17g.43045726C>TCA500142889BRCA1c.5541G>A (p.Gln1847=)
c.5544G>A (p.Gln1848=)
c.5418G>A (p.Gln1806=)
c.5538G>A (p.Gln1846=)
c.5466G>A (p.Gln1822=)
c.2232G>A (p.Gln744=)
c.2094G>A (p.Gln698=)
c.4656G>A (p.Gln1552=)
c.5421G>A (p.Gln1807=)
c.5610G>A (p.Gln1870=)
c.5403G>A (p.Gln1801=)
c.2106G>A (p.Gln702=)
n.1427G>A
n.908G>A
c.5607G>A (p.Gln1869=)
c.1931G>A
c.2118G>A (p.Gln706=)
c.*5327G>A (n.*5327G>A)
c.*58G>A (n.*58G>A)
c.474G>A (p.Gln158=)
c.1017G>A (p.Gln339=)
c.243G>A (p.Gln81=)
n.5680G>A
n.5721G>A
 ClinVar dbSNP
17g.43045727T>ACA10590236BRCA1c.5540A>T (p.Gln1847Leu)
c.5543A>T (p.Gln1848Leu)
c.5417A>T (p.Gln1806Leu)
c.5537A>T (p.Gln1846Leu)
c.5465A>T (p.Gln1822Leu)
c.2231A>T (p.Gln744Leu)
c.2093A>T (p.Gln698Leu)
c.4655A>T (p.Gln1552Leu)
c.5420A>T (p.Gln1807Leu)
c.5609A>T (p.Gln1870Leu)
c.5402A>T (p.Gln1801Leu)
c.2105A>T (p.Gln702Leu)
n.1426A>T
n.907A>T
c.5606A>T (p.Gln1869Leu)
c.1930A>T
c.2117A>T (p.Gln706Leu)
c.*5326A>T (n.*5326A>T)
c.*57A>T (n.*57A>T)
c.473A>T (p.Gln158Leu)
c.1016A>T (p.Gln339Leu)
c.242A>T (p.Gln81Leu)
n.5679A>T
n.5720A>T
 ClinVar dbSNP
17g.43045727T>CCA10590237BRCA1c.5540A>G (p.Gln1847Arg)
c.5543A>G (p.Gln1848Arg)
c.5417A>G (p.Gln1806Arg)
c.5537A>G (p.Gln1846Arg)
c.5465A>G (p.Gln1822Arg)
c.2231A>G (p.Gln744Arg)
c.2093A>G (p.Gln698Arg)
c.4655A>G (p.Gln1552Arg)
c.5420A>G (p.Gln1807Arg)
c.5609A>G (p.Gln1870Arg)
c.5402A>G (p.Gln1801Arg)
c.2105A>G (p.Gln702Arg)
n.1426A>G
n.907A>G
c.5606A>G (p.Gln1869Arg)
c.1930A>G
c.2117A>G (p.Gln706Arg)
c.*5326A>G (n.*5326A>G)
c.*57A>G (n.*57A>G)
c.473A>G (p.Gln158Arg)
c.1016A>G (p.Gln339Arg)
c.242A>G (p.Gln81Arg)
n.5679A>G
n.5720A>G
 ClinVar dbSNP
17g.43045727T>GCA10590238BRCA1c.5540A>C (p.Gln1847Pro)
c.5543A>C (p.Gln1848Pro)
c.5417A>C (p.Gln1806Pro)
c.5537A>C (p.Gln1846Pro)
c.5465A>C (p.Gln1822Pro)
c.2231A>C (p.Gln744Pro)
c.2093A>C (p.Gln698Pro)
c.4655A>C (p.Gln1552Pro)
c.5420A>C (p.Gln1807Pro)
c.5609A>C (p.Gln1870Pro)
c.5402A>C (p.Gln1801Pro)
c.2105A>C (p.Gln702Pro)
n.1426A>C
n.907A>C
c.5606A>C (p.Gln1869Pro)
c.1930A>C
c.2117A>C (p.Gln706Pro)
c.*5326A>C (n.*5326A>C)
c.*57A>C (n.*57A>C)
c.473A>C (p.Gln158Pro)
c.1016A>C (p.Gln339Pro)
c.242A>C (p.Gln81Pro)
n.5679A>C
n.5720A>C
 ClinVar dbSNP
17g.43045727T=CA2260761062BRCA1c.5540A= (p.Gln1847=)
c.5543A= (p.Gln1848=)
c.5417A= (p.Gln1806=)
c.5537A= (p.Gln1846=)
c.5465A= (p.Gln1822=)
c.2231A= (p.Gln744=)
c.2093A= (p.Gln698=)
c.4655A= (p.Gln1552=)
c.5420A= (p.Gln1807=)
c.5609A= (p.Gln1870=)
c.5402A= (p.Gln1801=)
c.2105A= (p.Gln702=)
n.1426A=
n.907A=
c.5606A= (p.Gln1869=)
c.1930A=
c.2117A= (p.Gln706=)
c.*5326A= (n.*5326A=)
c.*57A= (n.*57A=)
c.473A= (p.Gln158=)
c.1016A= (p.Gln339=)
c.242A= (p.Gln81=)
n.5679A=
n.5720A=
17g.43045728G>ACA10589583BRCA1c.5539C>T (p.Gln1847Ter)
c.5542C>T (p.Gln1848Ter)
c.5416C>T (p.Gln1806Ter)
c.5536C>T (p.Gln1846Ter)
c.5464C>T (p.Gln1822Ter)
c.2230C>T (p.Gln744Ter)
c.2092C>T (p.Gln698Ter)
c.4654C>T (p.Gln1552Ter)
c.5419C>T (p.Gln1807Ter)
c.5608C>T (p.Gln1870Ter)
c.5401C>T (p.Gln1801Ter)
c.2104C>T (p.Gln702Ter)
n.1425C>T
n.906C>T
c.5605C>T (p.Gln1869Ter)
c.1929C>T
c.2116C>T (p.Gln706Ter)
c.*5325C>T (n.*5325C>T)
c.*56C>T (n.*56C>T)
c.472C>T (p.Gln158Ter)
c.1015C>T (p.Gln339Ter)
c.241C>T (p.Gln81Ter)
n.5678C>T
n.5719C>T
 ClinVar dbSNP
17g.43045728G>CCA10590239BRCA1c.5539C>G (p.Gln1847Glu)
c.5542C>G (p.Gln1848Glu)
c.5416C>G (p.Gln1806Glu)
c.5536C>G (p.Gln1846Glu)
c.5464C>G (p.Gln1822Glu)
c.2230C>G (p.Gln744Glu)
c.2092C>G (p.Gln698Glu)
c.4654C>G (p.Gln1552Glu)
c.5419C>G (p.Gln1807Glu)
c.5608C>G (p.Gln1870Glu)
c.5401C>G (p.Gln1801Glu)
c.2104C>G (p.Gln702Glu)
n.1425C>G
n.906C>G
c.5605C>G (p.Gln1869Glu)
c.1929C>G
c.2116C>G (p.Gln706Glu)
c.*5325C>G (n.*5325C>G)
c.*56C>G (n.*56C>G)
c.472C>G (p.Gln158Glu)
c.1015C>G (p.Gln339Glu)
c.241C>G (p.Gln81Glu)
n.5678C>G
n.5719C>G
 ClinVar dbSNP
17g.43045728G=CA2260761063BRCA1c.5539C= (p.Gln1847=)
c.5542C= (p.Gln1848=)
c.5416C= (p.Gln1806=)
c.5536C= (p.Gln1846=)
c.5464C= (p.Gln1822=)
c.2230C= (p.Gln744=)
c.2092C= (p.Gln698=)
c.4654C= (p.Gln1552=)
c.5419C= (p.Gln1807=)
c.5608C= (p.Gln1870=)
c.5401C= (p.Gln1801=)
c.2104C= (p.Gln702=)
n.1425C=
n.906C=
c.5605C= (p.Gln1869=)
c.1929C=
c.2116C= (p.Gln706=)
c.*5325C= (n.*5325C=)
c.*56C= (n.*56C=)
c.472C= (p.Gln158=)
c.1015C= (p.Gln339=)
c.241C= (p.Gln81=)
n.5678C=
n.5719C=
17g.43045728G>TCA10590240BRCA1c.5539C>A (p.Gln1847Lys)
c.5542C>A (p.Gln1848Lys)
c.5416C>A (p.Gln1806Lys)
c.5536C>A (p.Gln1846Lys)
c.5464C>A (p.Gln1822Lys)
c.2230C>A (p.Gln744Lys)
c.2092C>A (p.Gln698Lys)
c.4654C>A (p.Gln1552Lys)
c.5419C>A (p.Gln1807Lys)
c.5608C>A (p.Gln1870Lys)
c.5401C>A (p.Gln1801Lys)
c.2104C>A (p.Gln702Lys)
n.1425C>A
n.906C>A
c.5605C>A (p.Gln1869Lys)
c.1929C>A
c.2116C>A (p.Gln706Lys)
c.*5325C>A (n.*5325C>A)
c.*56C>A (n.*56C>A)
c.472C>A (p.Gln158Lys)
c.1015C>A (p.Gln339Lys)
c.241C>A (p.Gln81Lys)
n.5678C>A
n.5719C>A
 ClinVar dbSNP
17g.43045729dupCA2695226100BRCA1c.5539dup (p.Gln1847ProfsTer?)
c.5542dup (p.Gln1848ProfsTer?)
c.5416dup (p.Gln1806ProfsTer?)
c.5536dup (p.Gln1846ProfsTer?)
c.5464dup (p.Gln1822ProfsTer?)
c.2230dup (p.Gln744ProfsTer?)
c.2092dup (p.Gln698ProfsTer?)
c.4654dup (p.Gln1552ProfsTer?)
c.5419dup (p.Gln1807ProfsTer?)
c.5608dup (p.Gln1870ProfsTer?)
c.5401dup (p.Gln1801ProfsTer?)
c.2104dup (p.Gln702ProfsTer?)
n.1425dup
n.906dup
c.5605dup (p.Gln1869ProfsTer?)
c.1929dup
c.2116dup (p.Gln706ProfsTer?)
c.*5325dup (n.*5325dup)
c.*56dup (n.*56dup)
c.472dup (p.Gln158ProfsTer?)
c.1015dup (p.Gln339ProfsTer?)
c.241dup (p.Gln81ProfsTer?)
n.5678dup
n.5719dup
17g.43045729G>ACA16615743BRCA1c.5538C>T (p.Cys1846=)
c.5541C>T (p.Cys1847=)
c.5415C>T (p.Cys1805=)
c.5535C>T (p.Cys1845=)
c.5463C>T (p.Cys1821=)
c.2229C>T (p.Cys743=)
c.2091C>T (p.Cys697=)
c.4653C>T (p.Cys1551=)
c.5418C>T (p.Cys1806=)
c.5607C>T (p.Cys1869=)
c.5400C>T (p.Cys1800=)
c.2103C>T (p.Cys701=)
n.1424C>T
n.905C>T
c.5604C>T (p.Cys1868=)
c.1928C>T
c.2115C>T (p.Cys705=)
c.*5324C>T (n.*5324C>T)
c.*55C>T (n.*55C>T)
c.471C>T (p.Cys157=)
c.1014C>T (p.Cys338=)
c.240C>T (p.Cys80=)
n.5677C>T
n.5718C>T
 ClinVar dbSNP gnomAD v4
17g.43045729G>CCA055273BRCA1c.5538C>G (p.Cys1846Trp)
c.5541C>G (p.Cys1847Trp)
c.5415C>G (p.Cys1805Trp)
c.5535C>G (p.Cys1845Trp)
c.5463C>G (p.Cys1821Trp)
c.2229C>G (p.Cys743Trp)
c.2091C>G (p.Cys697Trp)
c.4653C>G (p.Cys1551Trp)
c.5418C>G (p.Cys1806Trp)
c.5607C>G (p.Cys1869Trp)
c.5400C>G (p.Cys1800Trp)
c.2103C>G (p.Cys701Trp)
n.1424C>G
n.905C>G
c.5604C>G (p.Cys1868Trp)
c.1928C>G
c.2115C>G (p.Cys705Trp)
c.*5324C>G (n.*5324C>G)
c.*55C>G (n.*55C>G)
c.471C>G (p.Cys157Trp)
c.1014C>G (p.Cys338Trp)
c.240C>G (p.Cys80Trp)
n.5677C>G
n.5718C>G
 ClinVar dbSNP ExAC gnomAD v2
17g.43045729G=CA2260761064BRCA1c.5538C= (p.Cys1846=)
c.5541C= (p.Cys1847=)
c.5415C= (p.Cys1805=)
c.5535C= (p.Cys1845=)
c.5463C= (p.Cys1821=)
c.2229C= (p.Cys743=)
c.2091C= (p.Cys697=)
c.4653C= (p.Cys1551=)
c.5418C= (p.Cys1806=)
c.5607C= (p.Cys1869=)
c.5400C= (p.Cys1800=)
c.2103C= (p.Cys701=)
n.1424C=
n.905C=
c.5604C= (p.Cys1868=)
c.1928C=
c.2115C= (p.Cys705=)
c.*5324C= (n.*5324C=)
c.*55C= (n.*55C=)
c.471C= (p.Cys157=)
c.1014C= (p.Cys338=)
c.240C= (p.Cys80=)
n.5677C=
n.5718C=
17g.43045729G>TCA003706BRCA1c.5538C>A (p.Cys1846Ter)
c.5541C>A (p.Cys1847Ter)
c.5415C>A (p.Cys1805Ter)
c.5535C>A (p.Cys1845Ter)
c.5463C>A (p.Cys1821Ter)
c.2229C>A (p.Cys743Ter)
c.2091C>A (p.Cys697Ter)
c.4653C>A (p.Cys1551Ter)
c.5418C>A (p.Cys1806Ter)
c.5607C>A (p.Cys1869Ter)
c.5400C>A (p.Cys1800Ter)
c.2103C>A (p.Cys701Ter)
n.1424C>A
n.905C>A
c.5604C>A (p.Cys1868Ter)
c.1928C>A
c.2115C>A (p.Cys705Ter)
c.*5324C>A (n.*5324C>A)
c.*55C>A (n.*55C>A)
c.471C>A (p.Cys157Ter)
c.1014C>A (p.Cys338Ter)
c.240C>A (p.Cys80Ter)
n.5677C>A
n.5718C>A
 ClinVar dbSNP
17g.43045730C>ACA10590241BRCA1c.5537G>T (p.Cys1846Phe)
c.5540G>T (p.Cys1847Phe)
c.5414G>T (p.Cys1805Phe)
c.5534G>T (p.Cys1845Phe)
c.5462G>T (p.Cys1821Phe)
c.2228G>T (p.Cys743Phe)
c.2090G>T (p.Cys697Phe)
c.4652G>T (p.Cys1551Phe)
c.5417G>T (p.Cys1806Phe)
c.5606G>T (p.Cys1869Phe)
c.5399G>T (p.Cys1800Phe)
c.2102G>T (p.Cys701Phe)
n.1423G>T
n.904G>T
c.5603G>T (p.Cys1868Phe)
c.1927G>T
c.2114G>T (p.Cys705Phe)
c.*5323G>T (n.*5323G>T)
c.*54G>T (n.*54G>T)
c.470G>T (p.Cys157Phe)
c.1013G>T (p.Cys338Phe)
c.239G>T (p.Cys80Phe)
n.5676G>T
n.5717G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045730C=CA2260761065BRCA1c.5537G= (p.Cys1846=)
c.5540G= (p.Cys1847=)
c.5414G= (p.Cys1805=)
c.5534G= (p.Cys1845=)
c.5462G= (p.Cys1821=)
c.2228G= (p.Cys743=)
c.2090G= (p.Cys697=)
c.4652G= (p.Cys1551=)
c.5417G= (p.Cys1806=)
c.5606G= (p.Cys1869=)
c.5399G= (p.Cys1800=)
c.2102G= (p.Cys701=)
n.1423G=
n.904G=
c.5603G= (p.Cys1868=)
c.1927G=
c.2114G= (p.Cys705=)
c.*5323G= (n.*5323G=)
c.*54G= (n.*54G=)
c.470G= (p.Cys157=)
c.1013G= (p.Cys338=)
c.239G= (p.Cys80=)
n.5676G=
n.5717G=
17g.43045730C>GCA10590242BRCA1c.5537G>C (p.Cys1846Ser)
c.5540G>C (p.Cys1847Ser)
c.5414G>C (p.Cys1805Ser)
c.5534G>C (p.Cys1845Ser)
c.5462G>C (p.Cys1821Ser)
c.2228G>C (p.Cys743Ser)
c.2090G>C (p.Cys697Ser)
c.4652G>C (p.Cys1551Ser)
c.5417G>C (p.Cys1806Ser)
c.5606G>C (p.Cys1869Ser)
c.5399G>C (p.Cys1800Ser)
c.2102G>C (p.Cys701Ser)
n.1423G>C
n.904G>C
c.5603G>C (p.Cys1868Ser)
c.1927G>C
c.2114G>C (p.Cys705Ser)
c.*5323G>C (n.*5323G>C)
c.*54G>C (n.*54G>C)
c.470G>C (p.Cys157Ser)
c.1013G>C (p.Cys338Ser)
c.239G>C (p.Cys80Ser)
n.5676G>C
n.5717G>C
 ClinVar dbSNP
17g.43045730C>TCA10590243BRCA1c.5537G>A (p.Cys1846Tyr)
c.5540G>A (p.Cys1847Tyr)
c.5414G>A (p.Cys1805Tyr)
c.5534G>A (p.Cys1845Tyr)
c.5462G>A (p.Cys1821Tyr)
c.2228G>A (p.Cys743Tyr)
c.2090G>A (p.Cys697Tyr)
c.4652G>A (p.Cys1551Tyr)
c.5417G>A (p.Cys1806Tyr)
c.5606G>A (p.Cys1869Tyr)
c.5399G>A (p.Cys1800Tyr)
c.2102G>A (p.Cys701Tyr)
n.1423G>A
n.904G>A
c.5603G>A (p.Cys1868Tyr)
c.1927G>A
c.2114G>A (p.Cys705Tyr)
c.*5323G>A (n.*5323G>A)
c.*54G>A (n.*54G>A)
c.470G>A (p.Cys157Tyr)
c.1013G>A (p.Cys338Tyr)
c.239G>A (p.Cys80Tyr)
n.5676G>A
n.5717G>A
 ClinVar dbSNP gnomAD v4
17g.43045730_43045736delinsCACTGGTCA2260761066BRCA1c.5531_5537delinsACCAGTG (p.Tyr1844=)
c.5534_5540delinsACCAGTG (p.Tyr1845=)
c.5408_5414delinsACCAGTG (p.Tyr1803=)
c.5528_5534delinsACCAGTG (p.Tyr1843=)
c.5456_5462delinsACCAGTG (p.Tyr1819=)
c.2222_2228delinsACCAGTG (p.Tyr741=)
c.2084_2090delinsACCAGTG (p.Tyr695=)
c.4646_4652delinsACCAGTG (p.Tyr1549=)
c.5411_5417delinsACCAGTG (p.Tyr1804=)
c.5600_5606delinsACCAGTG (p.Tyr1867=)
c.5393_5399delinsACCAGTG (p.Tyr1798=)
c.2096_2102delinsACCAGTG (p.Tyr699=)
n.1417_1423delinsACCAGTG
n.898_904delinsACCAGTG
c.5597_5603delinsACCAGTG (p.Tyr1866=)
c.1921_1927delinsACCAGTG
c.2108_2114delinsACCAGTG (p.Tyr703=)
c.*5317_*5323delinsACCAGTG (n.*5317_*5323delinsACCAGTG)
c.*48_*54delinsACCAGTG (n.*48_*54delinsACCAGTG)
c.464_470delinsACCAGTG (p.Tyr155=)
c.1007_1013delinsACCAGTG (p.Tyr336=)
c.233_239delinsACCAGTG (p.Tyr78=)
n.5670_5676delinsACCAGTG
n.5711_5717delinsACCAGTG
17g.43045730_43045731insCAGTGCCAGGACAGCAGGCA914177697BRCA1c.5536_5537insCCTGCTGTCCTGGCACTG (p.Cys1846delinsSerCysCysProGlyThrGly)
c.5539_5540insCCTGCTGTCCTGGCACTG (p.Cys1847delinsSerCysCysProGlyThrGly)
c.5413_5414insCCTGCTGTCCTGGCACTG (p.Cys1805delinsSerCysCysProGlyThrGly)
c.5533_5534insCCTGCTGTCCTGGCACTG (p.Cys1845delinsSerCysCysProGlyThrGly)
c.5461_5462insCCTGCTGTCCTGGCACTG (p.Cys1821delinsSerCysCysProGlyThrGly)
c.2227_2228insCCTGCTGTCCTGGCACTG (p.Cys743delinsSerCysCysProGlyThrGly)
c.2089_2090insCCTGCTGTCCTGGCACTG (p.Cys697delinsSerCysCysProGlyThrGly)
c.4651_4652insCCTGCTGTCCTGGCACTG (p.Cys1551delinsSerCysCysProGlyThrGly)
c.5416_5417insCCTGCTGTCCTGGCACTG (p.Cys1806delinsSerCysCysProGlyThrGly)
c.5605_5606insCCTGCTGTCCTGGCACTG (p.Cys1869delinsSerCysCysProGlyThrGly)
c.5398_5399insCCTGCTGTCCTGGCACTG (p.Cys1800delinsSerCysCysProGlyThrGly)
c.2101_2102insCCTGCTGTCCTGGCACTG (p.Cys701delinsSerCysCysProGlyThrGly)
n.1422_1423insCCTGCTGTCCTGGCACTG
n.903_904insCCTGCTGTCCTGGCACTG
c.5602_5603insCCTGCTGTCCTGGCACTG (p.Cys1868delinsSerCysCysProGlyThrGly)
c.1926_1927insCCTGCTGTCCTGGCACTG
c.2113_2114insCCTGCTGTCCTGGCACTG (p.Cys705delinsSerCysCysProGlyThrGly)
c.*5322_*5323insCCTGCTGTCCTGGCACTG (n.*5322_*5323insCCTGCTGTCCTGGCACTG)
c.*53_*54insCCTGCTGTCCTGGCACTG (n.*53_*54insCCTGCTGTCCTGGCACTG)
c.469_470insCCTGCTGTCCTGGCACTG (p.Cys157delinsSerCysCysProGlyThrGly)
c.1012_1013insCCTGCTGTCCTGGCACTG (p.Cys338delinsSerCysCysProGlyThrGly)
c.238_239insCCTGCTGTCCTGGCACTG (p.Cys80delinsSerCysCysProGlyThrGly)
n.5675_5676insCCTGCTGTCCTGGCACTG
n.5716_5717insCCTGCTGTCCTGGCACTG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045731A=CA2260761067BRCA1c.5536T= (p.Cys1846=)
c.5539T= (p.Cys1847=)
c.5413T= (p.Cys1805=)
c.5533T= (p.Cys1845=)
c.5461T= (p.Cys1821=)
c.2227T= (p.Cys743=)
c.2089T= (p.Cys697=)
c.4651T= (p.Cys1551=)
c.5416T= (p.Cys1806=)
c.5605T= (p.Cys1869=)
c.5398T= (p.Cys1800=)
c.2101T= (p.Cys701=)
n.1422T=
n.903T=
c.5602T= (p.Cys1868=)
c.1926T=
c.2113T= (p.Cys705=)
c.*5322T= (n.*5322T=)
c.*53T= (n.*53T=)
c.469T= (p.Cys157=)
c.1012T= (p.Cys338=)
c.238T= (p.Cys80=)
n.5675T=
n.5716T=
17g.43045731A>CCA10590244BRCA1c.5536T>G (p.Cys1846Gly)
c.5539T>G (p.Cys1847Gly)
c.5413T>G (p.Cys1805Gly)
c.5533T>G (p.Cys1845Gly)
c.5461T>G (p.Cys1821Gly)
c.2227T>G (p.Cys743Gly)
c.2089T>G (p.Cys697Gly)
c.4651T>G (p.Cys1551Gly)
c.5416T>G (p.Cys1806Gly)
c.5605T>G (p.Cys1869Gly)
c.5398T>G (p.Cys1800Gly)
c.2101T>G (p.Cys701Gly)
n.1422T>G
n.903T>G
c.5602T>G (p.Cys1868Gly)
c.1926T>G
c.2113T>G (p.Cys705Gly)
c.*5322T>G (n.*5322T>G)
c.*53T>G (n.*53T>G)
c.469T>G (p.Cys157Gly)
c.1012T>G (p.Cys338Gly)
c.238T>G (p.Cys80Gly)
n.5675T>G
n.5716T>G
 ClinVar dbSNP
17g.43045731A>GCA10590245BRCA1c.5536T>C (p.Cys1846Arg)
c.5539T>C (p.Cys1847Arg)
c.5413T>C (p.Cys1805Arg)
c.5533T>C (p.Cys1845Arg)
c.5461T>C (p.Cys1821Arg)
c.2227T>C (p.Cys743Arg)
c.2089T>C (p.Cys697Arg)
c.4651T>C (p.Cys1551Arg)
c.5416T>C (p.Cys1806Arg)
c.5605T>C (p.Cys1869Arg)
c.5398T>C (p.Cys1800Arg)
c.2101T>C (p.Cys701Arg)
n.1422T>C
n.903T>C
c.5602T>C (p.Cys1868Arg)
c.1926T>C
c.2113T>C (p.Cys705Arg)
c.*5322T>C (n.*5322T>C)
c.*53T>C (n.*53T>C)
c.469T>C (p.Cys157Arg)
c.1012T>C (p.Cys338Arg)
c.238T>C (p.Cys80Arg)
n.5675T>C
n.5716T>C
 ClinVar dbSNP
17g.43045731A>TCA10590246BRCA1c.5536T>A (p.Cys1846Ser)
c.5539T>A (p.Cys1847Ser)
c.5413T>A (p.Cys1805Ser)
c.5533T>A (p.Cys1845Ser)
c.5461T>A (p.Cys1821Ser)
c.2227T>A (p.Cys743Ser)
c.2089T>A (p.Cys697Ser)
c.4651T>A (p.Cys1551Ser)
c.5416T>A (p.Cys1806Ser)
c.5605T>A (p.Cys1869Ser)
c.5398T>A (p.Cys1800Ser)
c.2101T>A (p.Cys701Ser)
n.1422T>A
n.903T>A
c.5602T>A (p.Cys1868Ser)
c.1926T>A
c.2113T>A (p.Cys705Ser)
c.*5322T>A (n.*5322T>A)
c.*53T>A (n.*53T>A)
c.469T>A (p.Cys157Ser)
c.1012T>A (p.Cys338Ser)
c.238T>A (p.Cys80Ser)
n.5675T>A
n.5716T>A
 ClinVar dbSNP
17g.43045731_43045736delinsCCTGCTGTCCTGGCACTGGCA1139665548BRCA1c.5531_5536delinsCCAGTGCCAGGACAGCAGG (p.Tyr1844SerfsTer?)
c.5534_5539delinsCCAGTGCCAGGACAGCAGG (p.Tyr1845SerfsTer?)
c.5408_5413delinsCCAGTGCCAGGACAGCAGG (p.Tyr1803SerfsTer?)
c.5528_5533delinsCCAGTGCCAGGACAGCAGG (p.Tyr1843SerfsTer?)
c.5456_5461delinsCCAGTGCCAGGACAGCAGG (p.Tyr1819SerfsTer?)
c.2222_2227delinsCCAGTGCCAGGACAGCAGG (p.Tyr741SerfsTer?)
c.2084_2089delinsCCAGTGCCAGGACAGCAGG (p.Tyr695SerfsTer?)
c.4646_4651delinsCCAGTGCCAGGACAGCAGG (p.Tyr1549SerfsTer?)
c.5411_5416delinsCCAGTGCCAGGACAGCAGG (p.Tyr1804SerfsTer?)
c.5600_5605delinsCCAGTGCCAGGACAGCAGG (p.Tyr1867SerfsTer?)
c.5393_5398delinsCCAGTGCCAGGACAGCAGG (p.Tyr1798SerfsTer?)
c.2096_2101delinsCCAGTGCCAGGACAGCAGG (p.Tyr699SerfsTer?)
n.1417_1422delinsCCAGTGCCAGGACAGCAGG
n.898_903delinsCCAGTGCCAGGACAGCAGG
c.5597_5602delinsCCAGTGCCAGGACAGCAGG (p.Tyr1866SerfsTer?)
c.1921_1926delinsCCAGTGCCAGGACAGCAGG
c.2108_2113delinsCCAGTGCCAGGACAGCAGG (p.Tyr703SerfsTer?)
c.*5317_*5322delinsCCAGTGCCAGGACAGCAGG (n.*5317_*5322delinsCCAGTGCCAGGACAGCAGG)
c.*48_*53delinsCCAGTGCCAGGACAGCAGG (n.*48_*53delinsCCAGTGCCAGGACAGCAGG)
c.464_469delinsCCAGTGCCAGGACAGCAGG (p.Tyr155SerfsTer?)
c.1007_1012delinsCCAGTGCCAGGACAGCAGG (p.Tyr336SerfsTer?)
c.233_238delinsCCAGTGCCAGGACAGCAGG (p.Tyr78SerfsTer?)
n.5670_5675delinsCCAGTGCCAGGACAGCAGG
n.5711_5716delinsCCAGTGCCAGGACAGCAGG
 ClinVar dbSNP
17g.43045732C>ACA10590247BRCA1c.5535G>T (p.Gln1845His)
c.5538G>T (p.Gln1846His)
c.5412G>T (p.Gln1804His)
c.5532G>T (p.Gln1844His)
c.5460G>T (p.Gln1820His)
c.2226G>T (p.Gln742His)
c.2088G>T (p.Gln696His)
c.4650G>T (p.Gln1550His)
c.5415G>T (p.Gln1805His)
c.5604G>T (p.Gln1868His)
c.5397G>T (p.Gln1799His)
c.2100G>T (p.Gln700His)
n.1421G>T
n.902G>T
c.5601G>T (p.Gln1867His)
c.1925G>T
c.2112G>T (p.Gln704His)
c.*5321G>T (n.*5321G>T)
c.*52G>T (n.*52G>T)
c.468G>T (p.Gln156His)
c.1011G>T (p.Gln337His)
c.237G>T (p.Gln79His)
n.5674G>T
n.5715G>T
 ClinVar dbSNP
17g.43045732C=CA2260761069BRCA1c.5535G= (p.Gln1845=)
c.5538G= (p.Gln1846=)
c.5412G= (p.Gln1804=)
c.5532G= (p.Gln1844=)
c.5460G= (p.Gln1820=)
c.2226G= (p.Gln742=)
c.2088G= (p.Gln696=)
c.4650G= (p.Gln1550=)
c.5415G= (p.Gln1805=)
c.5604G= (p.Gln1868=)
c.5397G= (p.Gln1799=)
c.2100G= (p.Gln700=)
n.1421G=
n.902G=
c.5601G= (p.Gln1867=)
c.1925G=
c.2112G= (p.Gln704=)
c.*5321G= (n.*5321G=)
c.*52G= (n.*52G=)
c.468G= (p.Gln156=)
c.1011G= (p.Gln337=)
c.237G= (p.Gln79=)
n.5674G=
n.5715G=
17g.43045732C>GCA055269BRCA1c.5535G>C (p.Gln1845His)
c.5538G>C (p.Gln1846His)
c.5412G>C (p.Gln1804His)
c.5532G>C (p.Gln1844His)
c.5460G>C (p.Gln1820His)
c.2226G>C (p.Gln742His)
c.2088G>C (p.Gln696His)
c.4650G>C (p.Gln1550His)
c.5415G>C (p.Gln1805His)
c.5604G>C (p.Gln1868His)
c.5397G>C (p.Gln1799His)
c.2100G>C (p.Gln700His)
n.1421G>C
n.902G>C
c.5601G>C (p.Gln1867His)
c.1925G>C
c.2112G>C (p.Gln704His)
c.*5321G>C (n.*5321G>C)
c.*52G>C (n.*52G>C)
c.468G>C (p.Gln156His)
c.1011G>C (p.Gln337His)
c.237G>C (p.Gln79His)
n.5674G>C
n.5715G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045732C>TCA003705BRCA1c.5535G>A (p.Gln1845=)
c.5538G>A (p.Gln1846=)
c.5412G>A (p.Gln1804=)
c.5532G>A (p.Gln1844=)
c.5460G>A (p.Gln1820=)
c.2226G>A (p.Gln742=)
c.2088G>A (p.Gln696=)
c.4650G>A (p.Gln1550=)
c.5415G>A (p.Gln1805=)
c.5604G>A (p.Gln1868=)
c.5397G>A (p.Gln1799=)
c.2100G>A (p.Gln700=)
n.1421G>A
n.902G>A
c.5601G>A (p.Gln1867=)
c.1925G>A
c.2112G>A (p.Gln704=)
c.*5321G>A (n.*5321G>A)
c.*52G>A (n.*52G>A)
c.468G>A (p.Gln156=)
c.1011G>A (p.Gln337=)
c.237G>A (p.Gln79=)
n.5674G>A
n.5715G>A
 ClinVar dbSNP gnomAD v4
17g.43045732_43045736delinsCTGGTCA2260761068BRCA1c.5531_5535delinsACCAG (p.Tyr1844=)
c.5534_5538delinsACCAG (p.Tyr1845=)
c.5408_5412delinsACCAG (p.Tyr1803=)
c.5528_5532delinsACCAG (p.Tyr1843=)
c.5456_5460delinsACCAG (p.Tyr1819=)
c.2222_2226delinsACCAG (p.Tyr741=)
c.2084_2088delinsACCAG (p.Tyr695=)
c.4646_4650delinsACCAG (p.Tyr1549=)
c.5411_5415delinsACCAG (p.Tyr1804=)
c.5600_5604delinsACCAG (p.Tyr1867=)
c.5393_5397delinsACCAG (p.Tyr1798=)
c.2096_2100delinsACCAG (p.Tyr699=)
n.1417_1421delinsACCAG
n.898_902delinsACCAG
c.5597_5601delinsACCAG (p.Tyr1866=)
c.1921_1925delinsACCAG
c.2108_2112delinsACCAG (p.Tyr703=)
c.*5317_*5321delinsACCAG (n.*5317_*5321delinsACCAG)
c.*48_*52delinsACCAG (n.*48_*52delinsACCAG)
c.464_468delinsACCAG (p.Tyr155=)
c.1007_1011delinsACCAG (p.Tyr336=)
c.233_237delinsACCAG (p.Tyr78=)
n.5670_5674delinsACCAG
n.5711_5715delinsACCAG
17g.43045733T>ACA10590248BRCA1c.5534A>T (p.Gln1845Leu)
c.5537A>T (p.Gln1846Leu)
c.5411A>T (p.Gln1804Leu)
c.5531A>T (p.Gln1844Leu)
c.5459A>T (p.Gln1820Leu)
c.2225A>T (p.Gln742Leu)
c.2087A>T (p.Gln696Leu)
c.4649A>T (p.Gln1550Leu)
c.5414A>T (p.Gln1805Leu)
c.5603A>T (p.Gln1868Leu)
c.5396A>T (p.Gln1799Leu)
c.2099A>T (p.Gln700Leu)
n.1420A>T
n.901A>T
c.5600A>T (p.Gln1867Leu)
c.1924A>T
c.2111A>T (p.Gln704Leu)
c.*5320A>T (n.*5320A>T)
c.*51A>T (n.*51A>T)
c.467A>T (p.Gln156Leu)
c.1010A>T (p.Gln337Leu)
c.236A>T (p.Gln79Leu)
n.5673A>T
n.5714A>T
 ClinVar dbSNP
17g.43045733T>CCA10590249BRCA1c.5534A>G (p.Gln1845Arg)
c.5537A>G (p.Gln1846Arg)
c.5411A>G (p.Gln1804Arg)
c.5531A>G (p.Gln1844Arg)
c.5459A>G (p.Gln1820Arg)
c.2225A>G (p.Gln742Arg)
c.2087A>G (p.Gln696Arg)
c.4649A>G (p.Gln1550Arg)
c.5414A>G (p.Gln1805Arg)
c.5603A>G (p.Gln1868Arg)
c.5396A>G (p.Gln1799Arg)
c.2099A>G (p.Gln700Arg)
n.1420A>G
n.901A>G
c.5600A>G (p.Gln1867Arg)
c.1924A>G
c.2111A>G (p.Gln704Arg)
c.*5320A>G (n.*5320A>G)
c.*51A>G (n.*51A>G)
c.467A>G (p.Gln156Arg)
c.1010A>G (p.Gln337Arg)
c.236A>G (p.Gln79Arg)
n.5673A>G
n.5714A>G
 ClinVar dbSNP
17g.43045733T>GCA10590250BRCA1c.5534A>C (p.Gln1845Pro)
c.5537A>C (p.Gln1846Pro)
c.5411A>C (p.Gln1804Pro)
c.5531A>C (p.Gln1844Pro)
c.5459A>C (p.Gln1820Pro)
c.2225A>C (p.Gln742Pro)
c.2087A>C (p.Gln696Pro)
c.4649A>C (p.Gln1550Pro)
c.5414A>C (p.Gln1805Pro)
c.5603A>C (p.Gln1868Pro)
c.5396A>C (p.Gln1799Pro)
c.2099A>C (p.Gln700Pro)
n.1420A>C
n.901A>C
c.5600A>C (p.Gln1867Pro)
c.1924A>C
c.2111A>C (p.Gln704Pro)
c.*5320A>C (n.*5320A>C)
c.*51A>C (n.*51A>C)
c.467A>C (p.Gln156Pro)
c.1010A>C (p.Gln337Pro)
c.236A>C (p.Gln79Pro)
n.5673A>C
n.5714A>C
 ClinVar dbSNP
17g.43045733T=CA2260761070BRCA1c.5534A= (p.Gln1845=)
c.5537A= (p.Gln1846=)
c.5411A= (p.Gln1804=)
c.5531A= (p.Gln1844=)
c.5459A= (p.Gln1820=)
c.2225A= (p.Gln742=)
c.2087A= (p.Gln696=)
c.4649A= (p.Gln1550=)
c.5414A= (p.Gln1805=)
c.5603A= (p.Gln1868=)
c.5396A= (p.Gln1799=)
c.2099A= (p.Gln700=)
n.1420A=
n.901A=
c.5600A= (p.Gln1867=)
c.1924A=
c.2111A= (p.Gln704=)
c.*5320A= (n.*5320A=)
c.*51A= (n.*51A=)
c.467A= (p.Gln156=)
c.1010A= (p.Gln337=)
c.236A= (p.Gln79=)
n.5673A=
n.5714A=
17g.43045733_43045734delinsTGCA2260761071BRCA1c.5533_5534delinsCA (p.Gln1845=)
c.5536_5537delinsCA (p.Gln1846=)
c.5410_5411delinsCA (p.Gln1804=)
c.5530_5531delinsCA (p.Gln1844=)
c.5458_5459delinsCA (p.Gln1820=)
c.2224_2225delinsCA (p.Gln742=)
c.2086_2087delinsCA (p.Gln696=)
c.4648_4649delinsCA (p.Gln1550=)
c.5413_5414delinsCA (p.Gln1805=)
c.5602_5603delinsCA (p.Gln1868=)
c.5395_5396delinsCA (p.Gln1799=)
c.2098_2099delinsCA (p.Gln700=)
n.1419_1420delinsCA
n.900_901delinsCA
c.5599_5600delinsCA (p.Gln1867=)
c.1923_1924delinsCA
c.2110_2111delinsCA (p.Gln704=)
c.*5319_*5320delinsCA (n.*5319_*5320delinsCA)
c.*50_*51delinsCA (n.*50_*51delinsCA)
c.466_467delinsCA (p.Gln156=)
c.1009_1010delinsCA (p.Gln337=)
c.235_236delinsCA (p.Gln79=)
n.5672_5673delinsCA
n.5713_5714delinsCA
17g.43045733_43045736delCA914177698BRCA1c.5531_5534del (p.Tyr1844CysfsTer9)
c.5534_5537del (p.Tyr1845CysfsTer9)
c.5408_5411del (p.Tyr1803CysfsTer9)
c.5528_5531del (p.Tyr1843CysfsTer9)
c.5456_5459del (p.Tyr1819CysfsTer9)
c.2222_2225del (p.Tyr741CysfsTer9)
c.2084_2087del (p.Tyr695CysfsTer9)
c.4646_4649del (p.Tyr1549CysfsTer9)
c.5411_5414del (p.Tyr1804CysfsTer9)
c.5600_5603del (p.Tyr1867CysfsTer9)
c.5393_5396del (p.Tyr1798CysfsTer9)
c.2096_2099del (p.Tyr699CysfsTer9)
n.1417_1420del
n.898_901del
c.5597_5600del (p.Tyr1866CysfsTer9)
c.1921_1924del
c.2108_2111del (p.Tyr703CysfsTer9)
c.*5317_*5320del (n.*5317_*5320del)
c.*48_*51del (n.*48_*51del)
c.464_467del (p.Tyr155CysfsTer9)
c.1007_1010del (p.Tyr336CysfsTer9)
c.233_236del (p.Tyr78CysfsTer9)
n.5670_5673del
n.5711_5714del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045734G>ACA003704BRCA1c.5533C>T (p.Gln1845Ter)
c.5536C>T (p.Gln1846Ter)
c.5410C>T (p.Gln1804Ter)
c.5530C>T (p.Gln1844Ter)
c.5458C>T (p.Gln1820Ter)
c.2224C>T (p.Gln742Ter)
c.2086C>T (p.Gln696Ter)
c.4648C>T (p.Gln1550Ter)
c.5413C>T (p.Gln1805Ter)
c.5602C>T (p.Gln1868Ter)
c.5395C>T (p.Gln1799Ter)
c.2098C>T (p.Gln700Ter)
n.1419C>T
n.900C>T
c.5599C>T (p.Gln1867Ter)
c.1923C>T
c.2110C>T (p.Gln704Ter)
c.*5319C>T (n.*5319C>T)
c.*50C>T (n.*50C>T)
c.466C>T (p.Gln156Ter)
c.1009C>T (p.Gln337Ter)
c.235C>T (p.Gln79Ter)
n.5672C>T
n.5713C>T
 ClinVar dbSNP
17g.43045734G>CCA10590251BRCA1c.5533C>G (p.Gln1845Glu)
c.5536C>G (p.Gln1846Glu)
c.5410C>G (p.Gln1804Glu)
c.5530C>G (p.Gln1844Glu)
c.5458C>G (p.Gln1820Glu)
c.2224C>G (p.Gln742Glu)
c.2086C>G (p.Gln696Glu)
c.4648C>G (p.Gln1550Glu)
c.5413C>G (p.Gln1805Glu)
c.5602C>G (p.Gln1868Glu)
c.5395C>G (p.Gln1799Glu)
c.2098C>G (p.Gln700Glu)
n.1419C>G
n.900C>G
c.5599C>G (p.Gln1867Glu)
c.1923C>G
c.2110C>G (p.Gln704Glu)
c.*5319C>G (n.*5319C>G)
c.*50C>G (n.*50C>G)
c.466C>G (p.Gln156Glu)
c.1009C>G (p.Gln337Glu)
c.235C>G (p.Gln79Glu)
n.5672C>G
n.5713C>G
 ClinVar dbSNP
17g.43045734G=CA2260761072BRCA1c.5533C= (p.Gln1845=)
c.5536C= (p.Gln1846=)
c.5410C= (p.Gln1804=)
c.5530C= (p.Gln1844=)
c.5458C= (p.Gln1820=)
c.2224C= (p.Gln742=)
c.2086C= (p.Gln696=)
c.4648C= (p.Gln1550=)
c.5413C= (p.Gln1805=)
c.5602C= (p.Gln1868=)
c.5395C= (p.Gln1799=)
c.2098C= (p.Gln700=)
n.1419C=
n.900C=
c.5599C= (p.Gln1867=)
c.1923C=
c.2110C= (p.Gln704=)
c.*5319C= (n.*5319C=)
c.*50C= (n.*50C=)
c.466C= (p.Gln156=)
c.1009C= (p.Gln337=)
c.235C= (p.Gln79=)
n.5672C=
n.5713C=
17g.43045734G>TCA10590252BRCA1c.5533C>A (p.Gln1845Lys)
c.5536C>A (p.Gln1846Lys)
c.5410C>A (p.Gln1804Lys)
c.5530C>A (p.Gln1844Lys)
c.5458C>A (p.Gln1820Lys)
c.2224C>A (p.Gln742Lys)
c.2086C>A (p.Gln696Lys)
c.4648C>A (p.Gln1550Lys)
c.5413C>A (p.Gln1805Lys)
c.5602C>A (p.Gln1868Lys)
c.5395C>A (p.Gln1799Lys)
c.2098C>A (p.Gln700Lys)
n.1419C>A
n.900C>A
c.5599C>A (p.Gln1867Lys)
c.1923C>A
c.2110C>A (p.Gln704Lys)
c.*5319C>A (n.*5319C>A)
c.*50C>A (n.*50C>A)
c.466C>A (p.Gln156Lys)
c.1009C>A (p.Gln337Lys)
c.235C>A (p.Gln79Lys)
n.5672C>A
n.5713C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045735delCA10589584BRCA1c.5533del (p.Gln1845SerfsTer9)
c.5536del (p.Gln1846SerfsTer9)
c.5410del (p.Gln1804SerfsTer9)
c.5530del (p.Gln1844SerfsTer9)
c.5458del (p.Gln1820SerfsTer9)
c.2224del (p.Gln742SerfsTer9)
c.2086del (p.Gln696SerfsTer9)
c.4648del (p.Gln1550SerfsTer9)
c.5413del (p.Gln1805SerfsTer9)
c.5602del (p.Gln1868SerfsTer9)
c.5395del (p.Gln1799SerfsTer9)
c.2098del (p.Gln700SerfsTer9)
n.1419del
n.900del
c.5599del (p.Gln1867SerfsTer9)
c.1923del
c.2110del (p.Gln704SerfsTer9)
c.*5319del (n.*5319del)
c.*50del (n.*50del)
c.466del (p.Gln156SerfsTer9)
c.1009del (p.Gln337SerfsTer9)
c.235del (p.Gln79SerfsTer9)
n.5672del
n.5713del
 ClinVar dbSNP
17g.43045734_43045743dupCA2638036269BRCA1c.5524_5533dup (p.Gln1845ArgfsTer?)
c.5527_5536dup (p.Gln1846ArgfsTer?)
c.5401_5410dup (p.Gln1804ArgfsTer?)
c.5521_5530dup (p.Gln1844ArgfsTer?)
c.5449_5458dup (p.Gln1820ArgfsTer?)
c.2215_2224dup (p.Gln742ArgfsTer?)
c.2077_2086dup (p.Gln696ArgfsTer?)
c.4639_4648dup (p.Gln1550ArgfsTer?)
c.5404_5413dup (p.Gln1805ArgfsTer?)
c.5593_5602dup (p.Gln1868ArgfsTer?)
c.5386_5395dup (p.Gln1799ArgfsTer?)
c.2089_2098dup (p.Gln700ArgfsTer?)
n.1410_1419dup
n.891_900dup
c.5590_5599dup (p.Gln1867ArgfsTer?)
c.1914_1923dup
c.2101_2110dup (p.Gln704ArgfsTer?)
c.*5310_*5319dup (n.*5310_*5319dup)
c.*41_*50dup (n.*41_*50dup)
c.457_466dup (p.Gln156ArgfsTer?)
c.1000_1009dup (p.Gln337ArgfsTer?)
c.226_235dup (p.Gln79ArgfsTer?)
n.5663_5672dup
n.5704_5713dup
 gnomAD v4
17g.43045735G>ACA500142890BRCA1c.5532C>T (p.Tyr1844=)
c.5535C>T (p.Tyr1845=)
c.5409C>T (p.Tyr1803=)
c.5529C>T (p.Tyr1843=)
c.5457C>T (p.Tyr1819=)
c.2223C>T (p.Tyr741=)
c.2085C>T (p.Tyr695=)
c.4647C>T (p.Tyr1549=)
c.5412C>T (p.Tyr1804=)
c.5601C>T (p.Tyr1867=)
c.5394C>T (p.Tyr1798=)
c.2097C>T (p.Tyr699=)
n.1418C>T
n.899C>T
c.5598C>T (p.Tyr1866=)
c.1922C>T
c.2109C>T (p.Tyr703=)
c.*5318C>T (n.*5318C>T)
c.*49C>T (n.*49C>T)
c.465C>T (p.Tyr155=)
c.1008C>T (p.Tyr336=)
c.234C>T (p.Tyr78=)
n.5671C>T
n.5712C>T
 ClinVar dbSNP
17g.43045735G>CCA10589585BRCA1c.5532C>G (p.Tyr1844Ter)
c.5535C>G (p.Tyr1845Ter)
c.5409C>G (p.Tyr1803Ter)
c.5529C>G (p.Tyr1843Ter)
c.5457C>G (p.Tyr1819Ter)
c.2223C>G (p.Tyr741Ter)
c.2085C>G (p.Tyr695Ter)
c.4647C>G (p.Tyr1549Ter)
c.5412C>G (p.Tyr1804Ter)
c.5601C>G (p.Tyr1867Ter)
c.5394C>G (p.Tyr1798Ter)
c.2097C>G (p.Tyr699Ter)
n.1418C>G
n.899C>G
c.5598C>G (p.Tyr1866Ter)
c.1922C>G
c.2109C>G (p.Tyr703Ter)
c.*5318C>G (n.*5318C>G)
c.*49C>G (n.*49C>G)
c.465C>G (p.Tyr155Ter)
c.1008C>G (p.Tyr336Ter)
c.234C>G (p.Tyr78Ter)
n.5671C>G
n.5712C>G
 ClinVar dbSNP
17g.43045735G=CA2260761074BRCA1c.5532C= (p.Tyr1844=)
c.5535C= (p.Tyr1845=)
c.5409C= (p.Tyr1803=)
c.5529C= (p.Tyr1843=)
c.5457C= (p.Tyr1819=)
c.2223C= (p.Tyr741=)
c.2085C= (p.Tyr695=)
c.4647C= (p.Tyr1549=)
c.5412C= (p.Tyr1804=)
c.5601C= (p.Tyr1867=)
c.5394C= (p.Tyr1798=)
c.2097C= (p.Tyr699=)
n.1418C=
n.899C=
c.5598C= (p.Tyr1866=)
c.1922C=
c.2109C= (p.Tyr703=)
c.*5318C= (n.*5318C=)
c.*49C= (n.*49C=)
c.465C= (p.Tyr155=)
c.1008C= (p.Tyr336=)
c.234C= (p.Tyr78=)
n.5671C=
n.5712C=
17g.43045735G>TCA003703BRCA1c.5532C>A (p.Tyr1844Ter)
c.5535C>A (p.Tyr1845Ter)
c.5409C>A (p.Tyr1803Ter)
c.5529C>A (p.Tyr1843Ter)
c.5457C>A (p.Tyr1819Ter)
c.2223C>A (p.Tyr741Ter)
c.2085C>A (p.Tyr695Ter)
c.4647C>A (p.Tyr1549Ter)
c.5412C>A (p.Tyr1804Ter)
c.5601C>A (p.Tyr1867Ter)
c.5394C>A (p.Tyr1798Ter)
c.2097C>A (p.Tyr699Ter)
n.1418C>A
n.899C>A
c.5598C>A (p.Tyr1866Ter)
c.1922C>A
c.2109C>A (p.Tyr703Ter)
c.*5318C>A (n.*5318C>A)
c.*49C>A (n.*49C>A)
c.465C>A (p.Tyr155Ter)
c.1008C>A (p.Tyr336Ter)
c.234C>A (p.Tyr78Ter)
n.5671C>A
n.5712C>A
 ClinVar dbSNP
17g.43045735_43045736delinsGTCA2260761073BRCA1c.5531_5532delinsAC (p.Tyr1844=)
c.5534_5535delinsAC (p.Tyr1845=)
c.5408_5409delinsAC (p.Tyr1803=)
c.5528_5529delinsAC (p.Tyr1843=)
c.5456_5457delinsAC (p.Tyr1819=)
c.2222_2223delinsAC (p.Tyr741=)
c.2084_2085delinsAC (p.Tyr695=)
c.4646_4647delinsAC (p.Tyr1549=)
c.5411_5412delinsAC (p.Tyr1804=)
c.5600_5601delinsAC (p.Tyr1867=)
c.5393_5394delinsAC (p.Tyr1798=)
c.2096_2097delinsAC (p.Tyr699=)
n.1417_1418delinsAC
n.898_899delinsAC
c.5597_5598delinsAC (p.Tyr1866=)
c.1921_1922delinsAC
c.2108_2109delinsAC (p.Tyr703=)
c.*5317_*5318delinsAC (n.*5317_*5318delinsAC)
c.*48_*49delinsAC (n.*48_*49delinsAC)
c.464_465delinsAC (p.Tyr155=)
c.1007_1008delinsAC (p.Tyr336=)
c.233_234delinsAC (p.Tyr78=)
n.5670_5671delinsAC
n.5711_5712delinsAC
17g.43045736delCA16616882BRCA1c.5531del (p.Tyr1844SerfsTer10)
c.5534del (p.Tyr1845SerfsTer10)
c.5408del (p.Tyr1803SerfsTer10)
c.5528del (p.Tyr1843SerfsTer10)
c.5456del (p.Tyr1819SerfsTer10)
c.2222del (p.Tyr741SerfsTer10)
c.2084del (p.Tyr695SerfsTer10)
c.4646del (p.Tyr1549SerfsTer10)
c.5411del (p.Tyr1804SerfsTer10)
c.5600del (p.Tyr1867SerfsTer10)
c.5393del (p.Tyr1798SerfsTer10)
c.2096del (p.Tyr699SerfsTer10)
n.1417del
n.898del
c.5597del (p.Tyr1866SerfsTer10)
c.1921del
c.2108del (p.Tyr703SerfsTer10)
c.*5317del (n.*5317del)
c.*48del (n.*48del)
c.464del (p.Tyr155SerfsTer10)
c.1007del (p.Tyr336SerfsTer10)
c.233del (p.Tyr78SerfsTer10)
n.5670del
n.5711del
 ClinVar dbSNP
17g.43045736T>ACA10590253BRCA1c.5531A>T (p.Tyr1844Phe)
c.5534A>T (p.Tyr1845Phe)
c.5408A>T (p.Tyr1803Phe)
c.5528A>T (p.Tyr1843Phe)
c.5456A>T (p.Tyr1819Phe)
c.2222A>T (p.Tyr741Phe)
c.2084A>T (p.Tyr695Phe)
c.4646A>T (p.Tyr1549Phe)
c.5411A>T (p.Tyr1804Phe)
c.5600A>T (p.Tyr1867Phe)
c.5393A>T (p.Tyr1798Phe)
c.2096A>T (p.Tyr699Phe)
n.1417A>T
n.898A>T
c.5597A>T (p.Tyr1866Phe)
c.1921A>T
c.2108A>T (p.Tyr703Phe)
c.*5317A>T (n.*5317A>T)
c.*48A>T (n.*48A>T)
c.464A>T (p.Tyr155Phe)
c.1007A>T (p.Tyr336Phe)
c.233A>T (p.Tyr78Phe)
n.5670A>T
n.5711A>T
 ClinVar dbSNP
17g.43045736T>CCA10580481BRCA1c.5531A>G (p.Tyr1844Cys)
c.5534A>G (p.Tyr1845Cys)
c.5408A>G (p.Tyr1803Cys)
c.5528A>G (p.Tyr1843Cys)
c.5456A>G (p.Tyr1819Cys)
c.2222A>G (p.Tyr741Cys)
c.2084A>G (p.Tyr695Cys)
c.4646A>G (p.Tyr1549Cys)
c.5411A>G (p.Tyr1804Cys)
c.5600A>G (p.Tyr1867Cys)
c.5393A>G (p.Tyr1798Cys)
c.2096A>G (p.Tyr699Cys)
n.1417A>G
n.898A>G
c.5597A>G (p.Tyr1866Cys)
c.1921A>G
c.2108A>G (p.Tyr703Cys)
c.*5317A>G (n.*5317A>G)
c.*48A>G (n.*48A>G)
c.464A>G (p.Tyr155Cys)
c.1007A>G (p.Tyr336Cys)
c.233A>G (p.Tyr78Cys)
n.5670A>G
n.5711A>G
 ClinVar dbSNP
17g.43045736T>GCA10590254BRCA1c.5531A>C (p.Tyr1844Ser)
c.5534A>C (p.Tyr1845Ser)
c.5408A>C (p.Tyr1803Ser)
c.5528A>C (p.Tyr1843Ser)
c.5456A>C (p.Tyr1819Ser)
c.2222A>C (p.Tyr741Ser)
c.2084A>C (p.Tyr695Ser)
c.4646A>C (p.Tyr1549Ser)
c.5411A>C (p.Tyr1804Ser)
c.5600A>C (p.Tyr1867Ser)
c.5393A>C (p.Tyr1798Ser)
c.2096A>C (p.Tyr699Ser)
n.1417A>C
n.898A>C
c.5597A>C (p.Tyr1866Ser)
c.1921A>C
c.2108A>C (p.Tyr703Ser)
c.*5317A>C (n.*5317A>C)
c.*48A>C (n.*48A>C)
c.464A>C (p.Tyr155Ser)
c.1007A>C (p.Tyr336Ser)
c.233A>C (p.Tyr78Ser)
n.5670A>C
n.5711A>C
 ClinVar dbSNP
17g.43045736T=CA2260761075BRCA1c.5531A= (p.Tyr1844=)
c.5534A= (p.Tyr1845=)
c.5408A= (p.Tyr1803=)
c.5528A= (p.Tyr1843=)
c.5456A= (p.Tyr1819=)
c.2222A= (p.Tyr741=)
c.2084A= (p.Tyr695=)
c.4646A= (p.Tyr1549=)
c.5411A= (p.Tyr1804=)
c.5600A= (p.Tyr1867=)
c.5393A= (p.Tyr1798=)
c.2096A= (p.Tyr699=)
n.1417A=
n.898A=
c.5597A= (p.Tyr1866=)
c.1921A=
c.2108A= (p.Tyr703=)
c.*5317A= (n.*5317A=)
c.*48A= (n.*48A=)
c.464A= (p.Tyr155=)
c.1007A= (p.Tyr336=)
c.233A= (p.Tyr78=)
n.5670A=
n.5711A=
17g.43045736_43045738delinsTAGCA2260761076BRCA1c.5529_5531delinsCTA (p.Leu1843=)
c.5532_5534delinsCTA (p.Leu1844=)
c.5406_5408delinsCTA (p.Leu1802=)
c.5526_5528delinsCTA (p.Leu1842=)
c.5454_5456delinsCTA (p.Leu1818=)
c.2220_2222delinsCTA (p.Leu740=)
c.2082_2084delinsCTA (p.Leu694=)
c.4644_4646delinsCTA (p.Leu1548=)
c.5409_5411delinsCTA (p.Leu1803=)
c.5598_5600delinsCTA (p.Leu1866=)
c.5391_5393delinsCTA (p.Leu1797=)
c.2094_2096delinsCTA (p.Leu698=)
n.1415_1417delinsCTA
n.896_898delinsCTA
c.5595_5597delinsCTA (p.Leu1865=)
c.1919_1921delinsCTA
c.2106_2108delinsCTA (p.Leu702=)
c.*5315_*5317delinsCTA (n.*5315_*5317delinsCTA)
c.*46_*48delinsCTA (n.*46_*48delinsCTA)
c.462_464delinsCTA (p.Leu154=)
c.1005_1007delinsCTA (p.Leu335=)
c.231_233delinsCTA (p.Leu77=)
n.5668_5670delinsCTA
n.5709_5711delinsCTA
17g.43045736_43045737insCCA658824706BRCA1c.5530_5531insG (p.Tyr1844Ter)
c.5533_5534insG (p.Tyr1845Ter)
c.5407_5408insG (p.Tyr1803Ter)
c.5527_5528insG (p.Tyr1843Ter)
c.5455_5456insG (p.Tyr1819Ter)
c.2221_2222insG (p.Tyr741Ter)
c.2083_2084insG (p.Tyr695Ter)
c.4645_4646insG (p.Tyr1549Ter)
c.5410_5411insG (p.Tyr1804Ter)
c.5599_5600insG (p.Tyr1867Ter)
c.5392_5393insG (p.Tyr1798Ter)
c.2095_2096insG (p.Tyr699Ter)
n.1416_1417insG
n.897_898insG
c.5596_5597insG (p.Tyr1866Ter)
c.1920_1921insG
c.2107_2108insG (p.Tyr703Ter)
c.*5316_*5317insG (n.*5316_*5317insG)
c.*47_*48insG (n.*47_*48insG)
c.463_464insG (p.Tyr155Ter)
c.1006_1007insG (p.Tyr336Ter)
c.232_233insG (p.Tyr78Ter)
n.5669_5670insG
n.5710_5711insG
 ClinVar dbSNP
17g.43045737A=CA2260761077BRCA1c.5530T= (p.Tyr1844=)
c.5533T= (p.Tyr1845=)
c.5407T= (p.Tyr1803=)
c.5527T= (p.Tyr1843=)
c.5455T= (p.Tyr1819=)
c.2221T= (p.Tyr741=)
c.2083T= (p.Tyr695=)
c.4645T= (p.Tyr1549=)
c.5410T= (p.Tyr1804=)
c.5599T= (p.Tyr1867=)
c.5392T= (p.Tyr1798=)
c.2095T= (p.Tyr699=)
n.1416T=
n.897T=
c.5596T= (p.Tyr1866=)
c.1920T=
c.2107T= (p.Tyr703=)
c.*5316T= (n.*5316T=)
c.*47T= (n.*47T=)
c.463T= (p.Tyr155=)
c.1006T= (p.Tyr336=)
c.232T= (p.Tyr78=)
n.5669T=
n.5710T=
17g.43045737A>CCA10590255BRCA1c.5530T>G (p.Tyr1844Asp)
c.5533T>G (p.Tyr1845Asp)
c.5407T>G (p.Tyr1803Asp)
c.5527T>G (p.Tyr1843Asp)
c.5455T>G (p.Tyr1819Asp)
c.2221T>G (p.Tyr741Asp)
c.2083T>G (p.Tyr695Asp)
c.4645T>G (p.Tyr1549Asp)
c.5410T>G (p.Tyr1804Asp)
c.5599T>G (p.Tyr1867Asp)
c.5392T>G (p.Tyr1798Asp)
c.2095T>G (p.Tyr699Asp)
n.1416T>G
n.897T>G
c.5596T>G (p.Tyr1866Asp)
c.1920T>G
c.2107T>G (p.Tyr703Asp)
c.*5316T>G (n.*5316T>G)
c.*47T>G (n.*47T>G)
c.463T>G (p.Tyr155Asp)
c.1006T>G (p.Tyr336Asp)
c.232T>G (p.Tyr78Asp)
n.5669T>G
n.5710T>G
 ClinVar dbSNP
17g.43045737A>GCA10590256BRCA1c.5530T>C (p.Tyr1844His)
c.5533T>C (p.Tyr1845His)
c.5407T>C (p.Tyr1803His)
c.5527T>C (p.Tyr1843His)
c.5455T>C (p.Tyr1819His)
c.2221T>C (p.Tyr741His)
c.2083T>C (p.Tyr695His)
c.4645T>C (p.Tyr1549His)
c.5410T>C (p.Tyr1804His)
c.5599T>C (p.Tyr1867His)
c.5392T>C (p.Tyr1798His)
c.2095T>C (p.Tyr699His)
n.1416T>C
n.897T>C
c.5596T>C (p.Tyr1866His)
c.1920T>C
c.2107T>C (p.Tyr703His)
c.*5316T>C (n.*5316T>C)
c.*47T>C (n.*47T>C)
c.463T>C (p.Tyr155His)
c.1006T>C (p.Tyr336His)
c.232T>C (p.Tyr78His)
n.5669T>C
n.5710T>C
 ClinVar dbSNP
17g.43045737A>TCA10590257BRCA1c.5530T>A (p.Tyr1844Asn)
c.5533T>A (p.Tyr1845Asn)
c.5407T>A (p.Tyr1803Asn)
c.5527T>A (p.Tyr1843Asn)
c.5455T>A (p.Tyr1819Asn)
c.2221T>A (p.Tyr741Asn)
c.2083T>A (p.Tyr695Asn)
c.4645T>A (p.Tyr1549Asn)
c.5410T>A (p.Tyr1804Asn)
c.5599T>A (p.Tyr1867Asn)
c.5392T>A (p.Tyr1798Asn)
c.2095T>A (p.Tyr699Asn)
n.1416T>A
n.897T>A
c.5596T>A (p.Tyr1866Asn)
c.1920T>A
c.2107T>A (p.Tyr703Asn)
c.*5316T>A (n.*5316T>A)
c.*47T>A (n.*47T>A)
c.463T>A (p.Tyr155Asn)
c.1006T>A (p.Tyr336Asn)
c.232T>A (p.Tyr78Asn)
n.5669T>A
n.5710T>A
 ClinVar dbSNP
17g.43045737dupCA328026BRCA1c.5530dup (p.Tyr1844LeufsTer?)
c.5533dup (p.Tyr1845LeufsTer?)
c.5407dup (p.Tyr1803LeufsTer?)
c.5527dup (p.Tyr1843LeufsTer?)
c.5455dup (p.Tyr1819LeufsTer?)
c.2221dup (p.Tyr741LeufsTer?)
c.2083dup (p.Tyr695LeufsTer?)
c.4645dup (p.Tyr1549LeufsTer?)
c.5410dup (p.Tyr1804LeufsTer?)
c.5599dup (p.Tyr1867LeufsTer?)
c.5392dup (p.Tyr1798LeufsTer?)
c.2095dup (p.Tyr699LeufsTer?)
n.1416dup
n.897dup
c.5596dup (p.Tyr1866LeufsTer?)
c.1920dup
c.2107dup (p.Tyr703LeufsTer?)
c.*5316dup (n.*5316dup)
c.*47dup (n.*47dup)
c.463dup (p.Tyr155LeufsTer?)
c.1006dup (p.Tyr336LeufsTer?)
c.232dup (p.Tyr78LeufsTer?)
n.5669dup
n.5710dup
 ClinVar dbSNP
17g.43045739_43045740delCA16620417BRCA1c.5529_5530del (p.Tyr1844ProfsTer?)
c.5532_5533del (p.Tyr1845ProfsTer?)
c.5406_5407del (p.Tyr1803ProfsTer?)
c.5526_5527del (p.Tyr1843ProfsTer?)
c.5454_5455del (p.Tyr1819ProfsTer?)
c.2220_2221del (p.Tyr741ProfsTer?)
c.2082_2083del (p.Tyr695ProfsTer?)
c.4644_4645del (p.Tyr1549ProfsTer?)
c.5409_5410del (p.Tyr1804ProfsTer?)
c.5598_5599del (p.Tyr1867ProfsTer?)
c.5391_5392del (p.Tyr1798ProfsTer?)
c.2094_2095del (p.Tyr699ProfsTer?)
n.1415_1416del
n.896_897del
c.5595_5596del (p.Tyr1866ProfsTer?)
c.1919_1920del
c.2106_2107del (p.Tyr703ProfsTer?)
c.*5315_*5316del (n.*5315_*5316del)
c.*46_*47del (n.*46_*47del)
c.462_463del (p.Tyr155ProfsTer?)
c.1005_1006del (p.Tyr336ProfsTer?)
c.231_232del (p.Tyr78ProfsTer?)
n.5668_5669del
n.5709_5710del
 ClinVar dbSNP
17g.43045737_43045738insCCA003700BRCA1c.5529_5530insG (p.Tyr1844ValfsTer?)
c.5532_5533insG (p.Tyr1845ValfsTer?)
c.5406_5407insG (p.Tyr1803ValfsTer?)
c.5526_5527insG (p.Tyr1843ValfsTer?)
c.5454_5455insG (p.Tyr1819ValfsTer?)
c.2220_2221insG (p.Tyr741ValfsTer?)
c.2082_2083insG (p.Tyr695ValfsTer?)
c.4644_4645insG (p.Tyr1549ValfsTer?)
c.5409_5410insG (p.Tyr1804ValfsTer?)
c.5598_5599insG (p.Tyr1867ValfsTer?)
c.5391_5392insG (p.Tyr1798ValfsTer?)
c.2094_2095insG (p.Tyr699ValfsTer?)
n.1415_1416insG
n.896_897insG
c.5595_5596insG (p.Tyr1866ValfsTer?)
c.1919_1920insG
c.2106_2107insG (p.Tyr703ValfsTer?)
c.*5315_*5316insG (n.*5315_*5316insG)
c.*46_*47insG (n.*46_*47insG)
c.462_463insG (p.Tyr155ValfsTer?)
c.1005_1006insG (p.Tyr336ValfsTer?)
c.231_232insG (p.Tyr78ValfsTer?)
n.5668_5669insG
n.5709_5710insG
 ClinVar dbSNP
17g.43045738G>ACA003702BRCA1c.5529C>T (p.Leu1843=)
c.5532C>T (p.Leu1844=)
c.5406C>T (p.Leu1802=)
c.5526C>T (p.Leu1842=)
c.5454C>T (p.Leu1818=)
c.2220C>T (p.Leu740=)
c.2082C>T (p.Leu694=)
c.4644C>T (p.Leu1548=)
c.5409C>T (p.Leu1803=)
c.5598C>T (p.Leu1866=)
c.5391C>T (p.Leu1797=)
c.2094C>T (p.Leu698=)
n.1415C>T
n.896C>T
c.5595C>T (p.Leu1865=)
c.1919C>T
c.2106C>T (p.Leu702=)
c.*5315C>T (n.*5315C>T)
c.*46C>T (n.*46C>T)
c.462C>T (p.Leu154=)
c.1005C>T (p.Leu335=)
c.231C>T (p.Leu77=)
n.5668C>T
n.5709C>T
 ClinVar dbSNP
17g.43045738G>CCA500142891BRCA1c.5529C>G (p.Leu1843=)
c.5532C>G (p.Leu1844=)
c.5406C>G (p.Leu1802=)
c.5526C>G (p.Leu1842=)
c.5454C>G (p.Leu1818=)
c.2220C>G (p.Leu740=)
c.2082C>G (p.Leu694=)
c.4644C>G (p.Leu1548=)
c.5409C>G (p.Leu1803=)
c.5598C>G (p.Leu1866=)
c.5391C>G (p.Leu1797=)
c.2094C>G (p.Leu698=)
n.1415C>G
n.896C>G
c.5595C>G (p.Leu1865=)
c.1919C>G
c.2106C>G (p.Leu702=)
c.*5315C>G (n.*5315C>G)
c.*46C>G (n.*46C>G)
c.462C>G (p.Leu154=)
c.1005C>G (p.Leu335=)
c.231C>G (p.Leu77=)
n.5668C>G
n.5709C>G
 ClinVar dbSNP
17g.43045738G=CA2260761079BRCA1c.5529C= (p.Leu1843=)
c.5532C= (p.Leu1844=)
c.5406C= (p.Leu1802=)
c.5526C= (p.Leu1842=)
c.5454C= (p.Leu1818=)
c.2220C= (p.Leu740=)
c.2082C= (p.Leu694=)
c.4644C= (p.Leu1548=)
c.5409C= (p.Leu1803=)
c.5598C= (p.Leu1866=)
c.5391C= (p.Leu1797=)
c.2094C= (p.Leu698=)
n.1415C=
n.896C=
c.5595C= (p.Leu1865=)
c.1919C=
c.2106C= (p.Leu702=)
c.*5315C= (n.*5315C=)
c.*46C= (n.*46C=)
c.462C= (p.Leu154=)
c.1005C= (p.Leu335=)
c.231C= (p.Leu77=)
n.5668C=
n.5709C=
17g.43045738G>TCA500142892BRCA1c.5529C>A (p.Leu1843=)
c.5532C>A (p.Leu1844=)
c.5406C>A (p.Leu1802=)
c.5526C>A (p.Leu1842=)
c.5454C>A (p.Leu1818=)
c.2220C>A (p.Leu740=)
c.2082C>A (p.Leu694=)
c.4644C>A (p.Leu1548=)
c.5409C>A (p.Leu1803=)
c.5598C>A (p.Leu1866=)
c.5391C>A (p.Leu1797=)
c.2094C>A (p.Leu698=)
n.1415C>A
n.896C>A
c.5595C>A (p.Leu1865=)
c.1919C>A
c.2106C>A (p.Leu702=)
c.*5315C>A (n.*5315C>A)
c.*46C>A (n.*46C>A)
c.462C>A (p.Leu154=)
c.1005C>A (p.Leu335=)
c.231C>A (p.Leu77=)
n.5668C>A
n.5709C>A
 ClinVar dbSNP
17g.43045738_43045746delinsGAGTGCTACCA2260761078BRCA1c.5521_5529delinsGTAGCACTC (p.Val1841=)
c.5524_5532delinsGTAGCACTC (p.Val1842=)
c.5398_5406delinsGTAGCACTC (p.Val1800=)
c.5518_5526delinsGTAGCACTC (p.Val1840=)
c.5446_5454delinsGTAGCACTC (p.Val1816=)
c.2212_2220delinsGTAGCACTC (p.Val738=)
c.2074_2082delinsGTAGCACTC (p.Val692=)
c.4636_4644delinsGTAGCACTC (p.Val1546=)
c.5401_5409delinsGTAGCACTC (p.Val1801=)
c.5590_5598delinsGTAGCACTC (p.Val1864=)
c.5383_5391delinsGTAGCACTC (p.Val1795=)
c.2086_2094delinsGTAGCACTC (p.Val696=)
n.1407_1415delinsGTAGCACTC
n.888_896delinsGTAGCACTC
c.5587_5595delinsGTAGCACTC (p.Val1863=)
c.1911_1919delinsGTAGCACTC
c.2098_2106delinsGTAGCACTC (p.Val700=)
c.*5307_*5315delinsGTAGCACTC (n.*5307_*5315delinsGTAGCACTC)
c.*38_*46delinsGTAGCACTC (n.*38_*46delinsGTAGCACTC)
c.454_462delinsGTAGCACTC (p.Val152=)
c.997_1005delinsGTAGCACTC (p.Val333=)
c.223_231delinsGTAGCACTC (p.Val75=)
n.5660_5668delinsGTAGCACTC
n.5701_5709delinsGTAGCACTC
17g.43045739A=CA2260761080BRCA1c.5528T= (p.Leu1843=)
c.5531T= (p.Leu1844=)
c.5405T= (p.Leu1802=)
c.5525T= (p.Leu1842=)
c.5453T= (p.Leu1818=)
c.2219T= (p.Leu740=)
c.2081T= (p.Leu694=)
c.4643T= (p.Leu1548=)
c.5408T= (p.Leu1803=)
c.5597T= (p.Leu1866=)
c.5390T= (p.Leu1797=)
c.2093T= (p.Leu698=)
n.1414T=
n.895T=
c.5594T= (p.Leu1865=)
c.1918T=
c.2105T= (p.Leu702=)
c.*5314T= (n.*5314T=)
c.*45T= (n.*45T=)
c.461T= (p.Leu154=)
c.1004T= (p.Leu335=)
c.230T= (p.Leu77=)
n.5667T=
n.5708T=
17g.43045739A>CCA003699BRCA1c.5528T>G (p.Leu1843Arg)
c.5531T>G (p.Leu1844Arg)
c.5405T>G (p.Leu1802Arg)
c.5525T>G (p.Leu1842Arg)
c.5453T>G (p.Leu1818Arg)
c.2219T>G (p.Leu740Arg)
c.2081T>G (p.Leu694Arg)
c.4643T>G (p.Leu1548Arg)
c.5408T>G (p.Leu1803Arg)
c.5597T>G (p.Leu1866Arg)
c.5390T>G (p.Leu1797Arg)
c.2093T>G (p.Leu698Arg)
n.1414T>G
n.895T>G
c.5594T>G (p.Leu1865Arg)
c.1918T>G
c.2105T>G (p.Leu702Arg)
c.*5314T>G (n.*5314T>G)
c.*45T>G (n.*45T>G)
c.461T>G (p.Leu154Arg)
c.1004T>G (p.Leu335Arg)
c.230T>G (p.Leu77Arg)
n.5667T>G
n.5708T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.43045739A>GCA055255BRCA1c.5528T>C (p.Leu1843Pro)
c.5531T>C (p.Leu1844Pro)
c.5405T>C (p.Leu1802Pro)
c.5525T>C (p.Leu1842Pro)
c.5453T>C (p.Leu1818Pro)
c.2219T>C (p.Leu740Pro)
c.2081T>C (p.Leu694Pro)
c.4643T>C (p.Leu1548Pro)
c.5408T>C (p.Leu1803Pro)
c.5597T>C (p.Leu1866Pro)
c.5390T>C (p.Leu1797Pro)
c.2093T>C (p.Leu698Pro)
n.1414T>C
n.895T>C
c.5594T>C (p.Leu1865Pro)
c.1918T>C
c.2105T>C (p.Leu702Pro)
c.*5314T>C (n.*5314T>C)
c.*45T>C (n.*45T>C)
c.461T>C (p.Leu154Pro)
c.1004T>C (p.Leu335Pro)
c.230T>C (p.Leu77Pro)
n.5667T>C
n.5708T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045739A>TCA10590258BRCA1c.5528T>A (p.Leu1843His)
c.5531T>A (p.Leu1844His)
c.5405T>A (p.Leu1802His)
c.5525T>A (p.Leu1842His)
c.5453T>A (p.Leu1818His)
c.2219T>A (p.Leu740His)
c.2081T>A (p.Leu694His)
c.4643T>A (p.Leu1548His)
c.5408T>A (p.Leu1803His)
c.5597T>A (p.Leu1866His)
c.5390T>A (p.Leu1797His)
c.2093T>A (p.Leu698His)
n.1414T>A
n.895T>A
c.5594T>A (p.Leu1865His)
c.1918T>A
c.2105T>A (p.Leu702His)
c.*5314T>A (n.*5314T>A)
c.*45T>A (n.*45T>A)
c.461T>A (p.Leu154His)
c.1004T>A (p.Leu335His)
c.230T>A (p.Leu77His)
n.5667T>A
n.5708T>A
 ClinVar dbSNP gnomAD v4
17g.43045740_43045747delCA10585905BRCA1c.5521_5528del (p.Val1841LeufsTer?)
c.5524_5531del (p.Val1842LeufsTer?)
c.5398_5405del (p.Val1800LeufsTer?)
c.5518_5525del (p.Val1840LeufsTer?)
c.5446_5453del (p.Val1816LeufsTer?)
c.2212_2219del (p.Val738LeufsTer?)
c.2074_2081del (p.Val692LeufsTer?)
c.4636_4643del (p.Val1546LeufsTer?)
c.5401_5408del (p.Val1801LeufsTer?)
c.5590_5597del (p.Val1864LeufsTer?)
c.5383_5390del (p.Val1795LeufsTer?)
c.2086_2093del (p.Val696LeufsTer?)
n.1407_1414del
n.888_895del
c.5587_5594del (p.Val1863LeufsTer?)
c.1911_1918del
c.2098_2105del (p.Val700LeufsTer?)
c.*5307_*5314del (n.*5307_*5314del)
c.*38_*45del (n.*38_*45del)
c.454_461del (p.Val152LeufsTer?)
c.997_1004del (p.Val333LeufsTer?)
c.223_230del (p.Val75LeufsTer?)
n.5660_5667del
n.5701_5708del
 ClinVar dbSNP
17g.43045740delCA2499224340BRCA1c.5527del (p.Leu1843SerfsTer11)
c.5530del (p.Leu1844SerfsTer11)
c.5404del (p.Leu1802SerfsTer11)
c.5524del (p.Leu1842SerfsTer11)
c.5452del (p.Leu1818SerfsTer11)
c.2218del (p.Leu740SerfsTer11)
c.2080del (p.Leu694SerfsTer11)
c.4642del (p.Leu1548SerfsTer11)
c.5407del (p.Leu1803SerfsTer11)
c.5596del (p.Leu1866SerfsTer11)
c.5389del (p.Leu1797SerfsTer11)
c.2092del (p.Leu698SerfsTer11)
n.1413del
n.894del
c.5593del (p.Leu1865SerfsTer11)
c.1917del
c.2104del (p.Leu702SerfsTer11)
c.*5313del (n.*5313del)
c.*44del (n.*44del)
c.460del (p.Leu154SerfsTer11)
c.1003del (p.Leu335SerfsTer11)
c.229del (p.Leu77SerfsTer11)
n.5666del
n.5707del
 ClinVar
17g.43045740G>ACA10590259BRCA1c.5527C>T (p.Leu1843Phe)
c.5530C>T (p.Leu1844Phe)
c.5404C>T (p.Leu1802Phe)
c.5524C>T (p.Leu1842Phe)
c.5452C>T (p.Leu1818Phe)
c.2218C>T (p.Leu740Phe)
c.2080C>T (p.Leu694Phe)
c.4642C>T (p.Leu1548Phe)
c.5407C>T (p.Leu1803Phe)
c.5596C>T (p.Leu1866Phe)
c.5389C>T (p.Leu1797Phe)
c.2092C>T (p.Leu698Phe)
n.1413C>T
n.894C>T
c.5593C>T (p.Leu1865Phe)
c.1917C>T
c.2104C>T (p.Leu702Phe)
c.*5313C>T (n.*5313C>T)
c.*44C>T (n.*44C>T)
c.460C>T (p.Leu154Phe)
c.1003C>T (p.Leu335Phe)
c.229C>T (p.Leu77Phe)
n.5666C>T
n.5707C>T
 ClinVar dbSNP
17g.43045740G>CCA10590260BRCA1c.5527C>G (p.Leu1843Val)
c.5530C>G (p.Leu1844Val)
c.5404C>G (p.Leu1802Val)
c.5524C>G (p.Leu1842Val)
c.5452C>G (p.Leu1818Val)
c.2218C>G (p.Leu740Val)
c.2080C>G (p.Leu694Val)
c.4642C>G (p.Leu1548Val)
c.5407C>G (p.Leu1803Val)
c.5596C>G (p.Leu1866Val)
c.5389C>G (p.Leu1797Val)
c.2092C>G (p.Leu698Val)
n.1413C>G
n.894C>G
c.5593C>G (p.Leu1865Val)
c.1917C>G
c.2104C>G (p.Leu702Val)
c.*5313C>G (n.*5313C>G)
c.*44C>G (n.*44C>G)
c.460C>G (p.Leu154Val)
c.1003C>G (p.Leu335Val)
c.229C>G (p.Leu77Val)
n.5666C>G
n.5707C>G
 ClinVar dbSNP
17g.43045740G=CA2260761082BRCA1c.5527C= (p.Leu1843=)
c.5530C= (p.Leu1844=)
c.5404C= (p.Leu1802=)
c.5524C= (p.Leu1842=)
c.5452C= (p.Leu1818=)
c.2218C= (p.Leu740=)
c.2080C= (p.Leu694=)
c.4642C= (p.Leu1548=)
c.5407C= (p.Leu1803=)
c.5596C= (p.Leu1866=)
c.5389C= (p.Leu1797=)
c.2092C= (p.Leu698=)
n.1413C=
n.894C=
c.5593C= (p.Leu1865=)
c.1917C=
c.2104C= (p.Leu702=)
c.*5313C= (n.*5313C=)
c.*44C= (n.*44C=)
c.460C= (p.Leu154=)
c.1003C= (p.Leu335=)
c.229C= (p.Leu77=)
n.5666C=
n.5707C=
17g.43045740G>TCA10590261BRCA1c.5527C>A (p.Leu1843Ile)
c.5530C>A (p.Leu1844Ile)
c.5404C>A (p.Leu1802Ile)
c.5524C>A (p.Leu1842Ile)
c.5452C>A (p.Leu1818Ile)
c.2218C>A (p.Leu740Ile)
c.2080C>A (p.Leu694Ile)
c.4642C>A (p.Leu1548Ile)
c.5407C>A (p.Leu1803Ile)
c.5596C>A (p.Leu1866Ile)
c.5389C>A (p.Leu1797Ile)
c.2092C>A (p.Leu698Ile)
n.1413C>A
n.894C>A
c.5593C>A (p.Leu1865Ile)
c.1917C>A
c.2104C>A (p.Leu702Ile)
c.*5313C>A (n.*5313C>A)
c.*44C>A (n.*44C>A)
c.460C>A (p.Leu154Ile)
c.1003C>A (p.Leu335Ile)
c.229C>A (p.Leu77Ile)
n.5666C>A
n.5707C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045740_43045741delinsGTCA2260761081BRCA1c.5526_5527delinsAC (p.Ala1842=)
c.5529_5530delinsAC (p.Ala1843=)
c.5403_5404delinsAC (p.Ala1801=)
c.5523_5524delinsAC (p.Ala1841=)
c.5451_5452delinsAC (p.Ala1817=)
c.2217_2218delinsAC (p.Ala739=)
c.2079_2080delinsAC (p.Ala693=)
c.4641_4642delinsAC (p.Ala1547=)
c.5406_5407delinsAC (p.Ala1802=)
c.5595_5596delinsAC (p.Ala1865=)
c.5388_5389delinsAC (p.Ala1796=)
c.2091_2092delinsAC (p.Ala697=)
n.1412_1413delinsAC
n.893_894delinsAC
c.5592_5593delinsAC (p.Ala1864=)
c.1916_1917delinsAC
c.2103_2104delinsAC (p.Ala701=)
c.*5312_*5313delinsAC (n.*5312_*5313delinsAC)
c.*43_*44delinsAC (n.*43_*44delinsAC)
c.459_460delinsAC (p.Ala153=)
c.1002_1003delinsAC (p.Ala334=)
c.228_229delinsAC (p.Ala76=)
n.5665_5666delinsAC
n.5706_5707delinsAC
17g.43045740_43045741delinsTGCA645509524BRCA1c.5526_5527delinsCA (p.Leu1843Ile)
c.5529_5530delinsCA (p.Leu1844Ile)
c.5403_5404delinsCA (p.Leu1802Ile)
c.5523_5524delinsCA (p.Leu1842Ile)
c.5451_5452delinsCA (p.Leu1818Ile)
c.2217_2218delinsCA (p.Leu740Ile)
c.2079_2080delinsCA (p.Leu694Ile)
c.4641_4642delinsCA (p.Leu1548Ile)
c.5406_5407delinsCA (p.Leu1803Ile)
c.5595_5596delinsCA (p.Leu1866Ile)
c.5388_5389delinsCA (p.Leu1797Ile)
c.2091_2092delinsCA (p.Leu698Ile)
n.1412_1413delinsCA
n.893_894delinsCA
c.5592_5593delinsCA (p.Leu1865Ile)
c.1916_1917delinsCA
c.2103_2104delinsCA (p.Leu702Ile)
c.*5312_*5313delinsCA (n.*5312_*5313delinsCA)
c.*43_*44delinsCA (n.*43_*44delinsCA)
c.459_460delinsCA (p.Leu154Ile)
c.1002_1003delinsCA (p.Leu335Ile)
c.228_229delinsCA (p.Leu77Ile)
n.5665_5666delinsCA
n.5706_5707delinsCA
 ClinVar dbSNP
17g.43045741T>ACA500142893BRCA1c.5526A>T (p.Ala1842=)
c.5529A>T (p.Ala1843=)
c.5403A>T (p.Ala1801=)
c.5523A>T (p.Ala1841=)
c.5451A>T (p.Ala1817=)
c.2217A>T (p.Ala739=)
c.2079A>T (p.Ala693=)
c.4641A>T (p.Ala1547=)
c.5406A>T (p.Ala1802=)
c.5595A>T (p.Ala1865=)
c.5388A>T (p.Ala1796=)
c.2091A>T (p.Ala697=)
n.1412A>T
n.893A>T
c.5592A>T (p.Ala1864=)
c.1916A>T
c.2103A>T (p.Ala701=)
c.*5312A>T (n.*5312A>T)
c.*43A>T (n.*43A>T)
c.459A>T (p.Ala153=)
c.1002A>T (p.Ala334=)
c.228A>T (p.Ala76=)
n.5665A>T
n.5706A>T
 ClinVar dbSNP
17g.43045741T>CCA500142894BRCA1c.5526A>G (p.Ala1842=)
c.5529A>G (p.Ala1843=)
c.5403A>G (p.Ala1801=)
c.5523A>G (p.Ala1841=)
c.5451A>G (p.Ala1817=)
c.2217A>G (p.Ala739=)
c.2079A>G (p.Ala693=)
c.4641A>G (p.Ala1547=)
c.5406A>G (p.Ala1802=)
c.5595A>G (p.Ala1865=)
c.5388A>G (p.Ala1796=)
c.2091A>G (p.Ala697=)
n.1412A>G
n.893A>G
c.5592A>G (p.Ala1864=)
c.1916A>G
c.2103A>G (p.Ala701=)
c.*5312A>G (n.*5312A>G)
c.*43A>G (n.*43A>G)
c.459A>G (p.Ala153=)
c.1002A>G (p.Ala334=)
c.228A>G (p.Ala76=)
n.5665A>G
n.5706A>G
 ClinVar dbSNP
17g.43045741T>GCA500142895BRCA1c.5526A>C (p.Ala1842=)
c.5529A>C (p.Ala1843=)
c.5403A>C (p.Ala1801=)
c.5523A>C (p.Ala1841=)
c.5451A>C (p.Ala1817=)
c.2217A>C (p.Ala739=)
c.2079A>C (p.Ala693=)
c.4641A>C (p.Ala1547=)
c.5406A>C (p.Ala1802=)
c.5595A>C (p.Ala1865=)
c.5388A>C (p.Ala1796=)
c.2091A>C (p.Ala697=)
n.1412A>C
n.893A>C
c.5592A>C (p.Ala1864=)
c.1916A>C
c.2103A>C (p.Ala701=)
c.*5312A>C (n.*5312A>C)
c.*43A>C (n.*43A>C)
c.459A>C (p.Ala153=)
c.1002A>C (p.Ala334=)
c.228A>C (p.Ala76=)
n.5665A>C
n.5706A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045741T=CA2260761083BRCA1c.5526A= (p.Ala1842=)
c.5529A= (p.Ala1843=)
c.5403A= (p.Ala1801=)
c.5523A= (p.Ala1841=)
c.5451A= (p.Ala1817=)
c.2217A= (p.Ala739=)
c.2079A= (p.Ala693=)
c.4641A= (p.Ala1547=)
c.5406A= (p.Ala1802=)
c.5595A= (p.Ala1865=)
c.5388A= (p.Ala1796=)
c.2091A= (p.Ala697=)
n.1412A=
n.893A=
c.5592A= (p.Ala1864=)
c.1916A=
c.2103A= (p.Ala701=)
c.*5312A= (n.*5312A=)
c.*43A= (n.*43A=)
c.459A= (p.Ala153=)
c.1002A= (p.Ala334=)
c.228A= (p.Ala76=)
n.5665A=
n.5706A=
17g.43045742G>ACA10590262BRCA1c.5525C>T (p.Ala1842Val)
c.5528C>T (p.Ala1843Val)
c.5402C>T (p.Ala1801Val)
c.5522C>T (p.Ala1841Val)
c.5450C>T (p.Ala1817Val)
c.2216C>T (p.Ala739Val)
c.2078C>T (p.Ala693Val)
c.4640C>T (p.Ala1547Val)
c.5405C>T (p.Ala1802Val)
c.5594C>T (p.Ala1865Val)
c.5387C>T (p.Ala1796Val)
c.2090C>T (p.Ala697Val)
n.1411C>T
n.892C>T
c.5591C>T (p.Ala1864Val)
c.1915C>T
c.2102C>T (p.Ala701Val)
c.*5311C>T (n.*5311C>T)
c.*42C>T (n.*42C>T)
c.458C>T (p.Ala153Val)
c.1001C>T (p.Ala334Val)
c.227C>T (p.Ala76Val)
n.5664C>T
n.5705C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43045742G>CCA10590263BRCA1c.5525C>G (p.Ala1842Gly)
c.5528C>G (p.Ala1843Gly)
c.5402C>G (p.Ala1801Gly)
c.5522C>G (p.Ala1841Gly)
c.5450C>G (p.Ala1817Gly)
c.2216C>G (p.Ala739Gly)
c.2078C>G (p.Ala693Gly)
c.4640C>G (p.Ala1547Gly)
c.5405C>G (p.Ala1802Gly)
c.5594C>G (p.Ala1865Gly)
c.5387C>G (p.Ala1796Gly)
c.2090C>G (p.Ala697Gly)
n.1411C>G
n.892C>G
c.5591C>G (p.Ala1864Gly)
c.1915C>G
c.2102C>G (p.Ala701Gly)
c.*5311C>G (n.*5311C>G)
c.*42C>G (n.*42C>G)
c.458C>G (p.Ala153Gly)
c.1001C>G (p.Ala334Gly)
c.227C>G (p.Ala76Gly)
n.5664C>G
n.5705C>G
 ClinVar dbSNP
17g.43045742G=CA2260761084BRCA1c.5525C= (p.Ala1842=)
c.5528C= (p.Ala1843=)
c.5402C= (p.Ala1801=)
c.5522C= (p.Ala1841=)
c.5450C= (p.Ala1817=)
c.2216C= (p.Ala739=)
c.2078C= (p.Ala693=)
c.4640C= (p.Ala1547=)
c.5405C= (p.Ala1802=)
c.5594C= (p.Ala1865=)
c.5387C= (p.Ala1796=)
c.2090C= (p.Ala697=)
n.1411C=
n.892C=
c.5591C= (p.Ala1864=)
c.1915C=
c.2102C= (p.Ala701=)
c.*5311C= (n.*5311C=)
c.*42C= (n.*42C=)
c.458C= (p.Ala153=)
c.1001C= (p.Ala334=)
c.227C= (p.Ala76=)
n.5664C=
n.5705C=
17g.43045742G>TCA003698BRCA1c.5525C>A (p.Ala1842Glu)
c.5528C>A (p.Ala1843Glu)
c.5402C>A (p.Ala1801Glu)
c.5522C>A (p.Ala1841Glu)
c.5450C>A (p.Ala1817Glu)
c.2216C>A (p.Ala739Glu)
c.2078C>A (p.Ala693Glu)
c.4640C>A (p.Ala1547Glu)
c.5405C>A (p.Ala1802Glu)
c.5594C>A (p.Ala1865Glu)
c.5387C>A (p.Ala1796Glu)
c.2090C>A (p.Ala697Glu)
n.1411C>A
n.892C>A
c.5591C>A (p.Ala1864Glu)
c.1915C>A
c.2102C>A (p.Ala701Glu)
c.*5311C>A (n.*5311C>A)
c.*42C>A (n.*42C>A)
c.458C>A (p.Ala153Glu)
c.1001C>A (p.Ala334Glu)
c.227C>A (p.Ala76Glu)
n.5664C>A
n.5705C>A
 ClinVar dbSNP
17g.43045743C>ACA10590264BRCA1c.5524G>T (p.Ala1842Ser)
c.5527G>T (p.Ala1843Ser)
c.5401G>T (p.Ala1801Ser)
c.5521G>T (p.Ala1841Ser)
c.5449G>T (p.Ala1817Ser)
c.2215G>T (p.Ala739Ser)
c.2077G>T (p.Ala693Ser)
c.4639G>T (p.Ala1547Ser)
c.5404G>T (p.Ala1802Ser)
c.5593G>T (p.Ala1865Ser)
c.5386G>T (p.Ala1796Ser)
c.2089G>T (p.Ala697Ser)
n.1410G>T
n.891G>T
c.5590G>T (p.Ala1864Ser)
c.1914G>T
c.2101G>T (p.Ala701Ser)
c.*5310G>T (n.*5310G>T)
c.*41G>T (n.*41G>T)
c.457G>T (p.Ala153Ser)
c.1000G>T (p.Ala334Ser)
c.226G>T (p.Ala76Ser)
n.5663G>T
n.5704G>T
 ClinVar dbSNP gnomAD v4
17g.43045743C=CA2260761085BRCA1c.5524G= (p.Ala1842=)
c.5527G= (p.Ala1843=)
c.5401G= (p.Ala1801=)
c.5521G= (p.Ala1841=)
c.5449G= (p.Ala1817=)
c.2215G= (p.Ala739=)
c.2077G= (p.Ala693=)
c.4639G= (p.Ala1547=)
c.5404G= (p.Ala1802=)
c.5593G= (p.Ala1865=)
c.5386G= (p.Ala1796=)
c.2089G= (p.Ala697=)
n.1410G=
n.891G=
c.5590G= (p.Ala1864=)
c.1914G=
c.2101G= (p.Ala701=)
c.*5310G= (n.*5310G=)
c.*41G= (n.*41G=)
c.457G= (p.Ala153=)
c.1000G= (p.Ala334=)
c.226G= (p.Ala76=)
n.5663G=
n.5704G=
17g.43045743C>GCA003697BRCA1c.5524G>C (p.Ala1842Pro)
c.5527G>C (p.Ala1843Pro)
c.5401G>C (p.Ala1801Pro)
c.5521G>C (p.Ala1841Pro)
c.5449G>C (p.Ala1817Pro)
c.2215G>C (p.Ala739Pro)
c.2077G>C (p.Ala693Pro)
c.4639G>C (p.Ala1547Pro)
c.5404G>C (p.Ala1802Pro)
c.5593G>C (p.Ala1865Pro)
c.5386G>C (p.Ala1796Pro)
c.2089G>C (p.Ala697Pro)
n.1410G>C
n.891G>C
c.5590G>C (p.Ala1864Pro)
c.1914G>C
c.2101G>C (p.Ala701Pro)
c.*5310G>C (n.*5310G>C)
c.*41G>C (n.*41G>C)
c.457G>C (p.Ala153Pro)
c.1000G>C (p.Ala334Pro)
c.226G>C (p.Ala76Pro)
n.5663G>C
n.5704G>C
 ClinVar dbSNP gnomAD v4
17g.43045743C>TCA10590265BRCA1c.5524G>A (p.Ala1842Thr)
c.5527G>A (p.Ala1843Thr)
c.5401G>A (p.Ala1801Thr)
c.5521G>A (p.Ala1841Thr)
c.5449G>A (p.Ala1817Thr)
c.2215G>A (p.Ala739Thr)
c.2077G>A (p.Ala693Thr)
c.4639G>A (p.Ala1547Thr)
c.5404G>A (p.Ala1802Thr)
c.5593G>A (p.Ala1865Thr)
c.5386G>A (p.Ala1796Thr)
c.2089G>A (p.Ala697Thr)
n.1410G>A
n.891G>A
c.5590G>A (p.Ala1864Thr)
c.1914G>A
c.2101G>A (p.Ala701Thr)
c.*5310G>A (n.*5310G>A)
c.*41G>A (n.*41G>A)
c.457G>A (p.Ala153Thr)
c.1000G>A (p.Ala334Thr)
c.226G>A (p.Ala76Thr)
n.5663G>A
n.5704G>A
 ClinVar dbSNP
17g.43045744T>ACA500142898BRCA1c.5523A>T (p.Val1841=)
c.5526A>T (p.Val1842=)
c.5400A>T (p.Val1800=)
c.5520A>T (p.Val1840=)
c.5448A>T (p.Val1816=)
c.2214A>T (p.Val738=)
c.2076A>T (p.Val692=)
c.4638A>T (p.Val1546=)
c.5403A>T (p.Val1801=)
c.5592A>T (p.Val1864=)
c.5385A>T (p.Val1795=)
c.2088A>T (p.Val696=)
n.1409A>T
n.890A>T
c.5589A>T (p.Val1863=)
c.1913A>T
c.2100A>T (p.Val700=)
c.*5309A>T (n.*5309A>T)
c.*40A>T (n.*40A>T)
c.456A>T (p.Val152=)
c.999A>T (p.Val333=)
c.225A>T (p.Val75=)
n.5662A>T
n.5703A>T
 ClinVar dbSNP
17g.43045744T>CCA500142896BRCA1c.5523A>G (p.Val1841=)
c.5526A>G (p.Val1842=)
c.5400A>G (p.Val1800=)
c.5520A>G (p.Val1840=)
c.5448A>G (p.Val1816=)
c.2214A>G (p.Val738=)
c.2076A>G (p.Val692=)
c.4638A>G (p.Val1546=)
c.5403A>G (p.Val1801=)
c.5592A>G (p.Val1864=)
c.5385A>G (p.Val1795=)
c.2088A>G (p.Val696=)
n.1409A>G
n.890A>G
c.5589A>G (p.Val1863=)
c.1913A>G
c.2100A>G (p.Val700=)
c.*5309A>G (n.*5309A>G)
c.*40A>G (n.*40A>G)
c.456A>G (p.Val152=)
c.999A>G (p.Val333=)
c.225A>G (p.Val75=)
n.5662A>G
n.5703A>G
 ClinVar dbSNP
17g.43045744T>GCA500142897BRCA1c.5523A>C (p.Val1841=)
c.5526A>C (p.Val1842=)
c.5400A>C (p.Val1800=)
c.5520A>C (p.Val1840=)
c.5448A>C (p.Val1816=)
c.2214A>C (p.Val738=)
c.2076A>C (p.Val692=)
c.4638A>C (p.Val1546=)
c.5403A>C (p.Val1801=)
c.5592A>C (p.Val1864=)
c.5385A>C (p.Val1795=)
c.2088A>C (p.Val696=)
n.1409A>C
n.890A>C
c.5589A>C (p.Val1863=)
c.1913A>C
c.2100A>C (p.Val700=)
c.*5309A>C (n.*5309A>C)
c.*40A>C (n.*40A>C)
c.456A>C (p.Val152=)
c.999A>C (p.Val333=)
c.225A>C (p.Val75=)
n.5662A>C
n.5703A>C
 ClinVar dbSNP
17g.43045744T=CA2260761086BRCA1c.5523A= (p.Val1841=)
c.5526A= (p.Val1842=)
c.5400A= (p.Val1800=)
c.5520A= (p.Val1840=)
c.5448A= (p.Val1816=)
c.2214A= (p.Val738=)
c.2076A= (p.Val692=)
c.4638A= (p.Val1546=)
c.5403A= (p.Val1801=)
c.5592A= (p.Val1864=)
c.5385A= (p.Val1795=)
c.2088A= (p.Val696=)
n.1409A=
n.890A=
c.5589A= (p.Val1863=)
c.1913A=
c.2100A= (p.Val700=)
c.*5309A= (n.*5309A=)
c.*40A= (n.*40A=)
c.456A= (p.Val152=)
c.999A= (p.Val333=)
c.225A= (p.Val75=)
n.5662A=
n.5703A=
17g.43045744_43045745delinsTACA2260761087BRCA1c.5522_5523delinsTA (p.Val1841=)
c.5525_5526delinsTA (p.Val1842=)
c.5399_5400delinsTA (p.Val1800=)
c.5519_5520delinsTA (p.Val1840=)
c.5447_5448delinsTA (p.Val1816=)
c.2213_2214delinsTA (p.Val738=)
c.2075_2076delinsTA (p.Val692=)
c.4637_4638delinsTA (p.Val1546=)
c.5402_5403delinsTA (p.Val1801=)
c.5591_5592delinsTA (p.Val1864=)
c.5384_5385delinsTA (p.Val1795=)
c.2087_2088delinsTA (p.Val696=)
n.1408_1409delinsTA
n.889_890delinsTA
c.5588_5589delinsTA (p.Val1863=)
c.1912_1913delinsTA
c.2099_2100delinsTA (p.Val700=)
c.*5308_*5309delinsTA (n.*5308_*5309delinsTA)
c.*39_*40delinsTA (n.*39_*40delinsTA)
c.455_456delinsTA (p.Val152=)
c.998_999delinsTA (p.Val333=)
c.224_225delinsTA (p.Val75=)
n.5661_5662delinsTA
n.5702_5703delinsTA
17g.43045744_43045770delinsACTCTACCAGTGCA2573153991BRCA1c.5497_5523delinsCACTGGTAGAGT (p.Thr1833HisfsTer3)
c.5500_5526delinsCACTGGTAGAGT (p.Thr1834HisfsTer3)
c.5374_5400delinsCACTGGTAGAGT (p.Thr1792HisfsTer3)
c.5494_5520delinsCACTGGTAGAGT (p.Thr1832HisfsTer3)
c.5422_5448delinsCACTGGTAGAGT (p.Thr1808HisfsTer3)
c.2188_2214delinsCACTGGTAGAGT (p.Thr730HisfsTer3)
c.2050_2076delinsCACTGGTAGAGT (p.Thr684HisfsTer3)
c.4612_4638delinsCACTGGTAGAGT (p.Thr1538HisfsTer3)
c.5377_5403delinsCACTGGTAGAGT (p.Thr1793HisfsTer3)
c.5566_5592delinsCACTGGTAGAGT (p.Thr1856HisfsTer3)
c.5359_5385delinsCACTGGTAGAGT (p.Thr1787HisfsTer3)
c.2062_2088delinsCACTGGTAGAGT (p.Thr688HisfsTer3)
n.1383_1409delinsCACTGGTAGAGT
n.864_890delinsCACTGGTAGAGT
c.5563_5589delinsCACTGGTAGAGT (p.Thr1855HisfsTer3)
c.1887_1913delinsCACTGGTAGAGT
c.2074_2100delinsCACTGGTAGAGT (p.Thr692HisfsTer3)
c.*5283_*5309delinsCACTGGTAGAGT (n.*5283_*5309delinsCACTGGTAGAGT)
c.*14_*40delinsCACTGGTAGAGT (n.*14_*40delinsCACTGGTAGAGT)
c.430_456delinsCACTGGTAGAGT (p.Thr144HisfsTer3)
c.973_999delinsCACTGGTAGAGT (p.Thr325HisfsTer3)
c.199_225delinsCACTGGTAGAGT (p.Thr67HisfsTer3)
n.5636_5662delinsCACTGGTAGAGT
n.5677_5703delinsCACTGGTAGAGT
 ClinVar dbSNP
17g.43045745delCA348508BRCA1c.5522del (p.Val1841GlufsTer13)
c.5525del (p.Val1842GlufsTer13)
c.5399del (p.Val1800GlufsTer13)
c.5519del (p.Val1840GlufsTer13)
c.5447del (p.Val1816GlufsTer13)
c.2213del (p.Val738GlufsTer13)
c.2075del (p.Val692GlufsTer13)
c.4637del (p.Val1546GlufsTer13)
c.5402del (p.Val1801GlufsTer13)
c.5591del (p.Val1864GlufsTer13)
c.5384del (p.Val1795GlufsTer13)
c.2087del (p.Val696GlufsTer13)
n.1408del
n.889del
c.5588del (p.Val1863GlufsTer13)
c.1912del
c.2099del (p.Val700GlufsTer13)
c.*5308del (n.*5308del)
c.*39del (n.*39del)
c.455del (p.Val152GlufsTer13)
c.998del (p.Val333GlufsTer13)
c.224del (p.Val75GlufsTer13)
n.5661del
n.5702del
 ClinVar dbSNP
17g.43045745A=CA2260761088BRCA1c.5522T= (p.Val1841=)
c.5525T= (p.Val1842=)
c.5399T= (p.Val1800=)
c.5519T= (p.Val1840=)
c.5447T= (p.Val1816=)
c.2213T= (p.Val738=)
c.2075T= (p.Val692=)
c.4637T= (p.Val1546=)
c.5402T= (p.Val1801=)
c.5591T= (p.Val1864=)
c.5384T= (p.Val1795=)
c.2087T= (p.Val696=)
n.1408T=
n.889T=
c.5588T= (p.Val1863=)
c.1912T=
c.2099T= (p.Val700=)
c.*5308T= (n.*5308T=)
c.*39T= (n.*39T=)
c.455T= (p.Val152=)
c.998T= (p.Val333=)
c.224T= (p.Val75=)
n.5661T=
n.5702T=
17g.43045745A>CCA10590266BRCA1c.5522T>G (p.Val1841Gly)
c.5525T>G (p.Val1842Gly)
c.5399T>G (p.Val1800Gly)
c.5519T>G (p.Val1840Gly)
c.5447T>G (p.Val1816Gly)
c.2213T>G (p.Val738Gly)
c.2075T>G (p.Val692Gly)
c.4637T>G (p.Val1546Gly)
c.5402T>G (p.Val1801Gly)
c.5591T>G (p.Val1864Gly)
c.5384T>G (p.Val1795Gly)
c.2087T>G (p.Val696Gly)
n.1408T>G
n.889T>G
c.5588T>G (p.Val1863Gly)
c.1912T>G
c.2099T>G (p.Val700Gly)
c.*5308T>G (n.*5308T>G)
c.*39T>G (n.*39T>G)
c.455T>G (p.Val152Gly)
c.998T>G (p.Val333Gly)
c.224T>G (p.Val75Gly)
n.5661T>G
n.5702T>G
 ClinVar dbSNP
17g.43045745A>GCA10590267BRCA1c.5522T>C (p.Val1841Ala)
c.5525T>C (p.Val1842Ala)
c.5399T>C (p.Val1800Ala)
c.5519T>C (p.Val1840Ala)
c.5447T>C (p.Val1816Ala)
c.2213T>C (p.Val738Ala)
c.2075T>C (p.Val692Ala)
c.4637T>C (p.Val1546Ala)
c.5402T>C (p.Val1801Ala)
c.5591T>C (p.Val1864Ala)
c.5384T>C (p.Val1795Ala)
c.2087T>C (p.Val696Ala)
n.1408T>C
n.889T>C
c.5588T>C (p.Val1863Ala)
c.1912T>C
c.2099T>C (p.Val700Ala)
c.*5308T>C (n.*5308T>C)
c.*39T>C (n.*39T>C)
c.455T>C (p.Val152Ala)
c.998T>C (p.Val333Ala)
c.224T>C (p.Val75Ala)
n.5661T>C
n.5702T>C
 ClinVar dbSNP
17g.43045745A>TCA10590268BRCA1c.5522T>A (p.Val1841Glu)
c.5525T>A (p.Val1842Glu)
c.5399T>A (p.Val1800Glu)
c.5519T>A (p.Val1840Glu)
c.5447T>A (p.Val1816Glu)
c.2213T>A (p.Val738Glu)
c.2075T>A (p.Val692Glu)
c.4637T>A (p.Val1546Glu)
c.5402T>A (p.Val1801Glu)
c.5591T>A (p.Val1864Glu)
c.5384T>A (p.Val1795Glu)
c.2087T>A (p.Val696Glu)
n.1408T>A
n.889T>A
c.5588T>A (p.Val1863Glu)
c.1912T>A
c.2099T>A (p.Val700Glu)
c.*5308T>A (n.*5308T>A)
c.*39T>A (n.*39T>A)
c.455T>A (p.Val152Glu)
c.998T>A (p.Val333Glu)
c.224T>A (p.Val75Glu)
n.5661T>A
n.5702T>A
 ClinVar dbSNP
17g.43045747_43045748delCA2695226101BRCA1c.5521_5522del (p.Val1841SerfsTer?)
c.5524_5525del (p.Val1842SerfsTer?)
c.5398_5399del (p.Val1800SerfsTer?)
c.5518_5519del (p.Val1840SerfsTer?)
c.5446_5447del (p.Val1816SerfsTer?)
c.2212_2213del (p.Val738SerfsTer?)
c.2074_2075del (p.Val692SerfsTer?)
c.4636_4637del (p.Val1546SerfsTer?)
c.5401_5402del (p.Val1801SerfsTer?)
c.5590_5591del (p.Val1864SerfsTer?)
c.5383_5384del (p.Val1795SerfsTer?)
c.2086_2087del (p.Val696SerfsTer?)
n.1407_1408del
n.888_889del
c.5587_5588del (p.Val1863SerfsTer?)
c.1911_1912del
c.2098_2099del (p.Val700SerfsTer?)
c.*5307_*5308del (n.*5307_*5308del)
c.*38_*39del (n.*38_*39del)
c.454_455del (p.Val152SerfsTer?)
c.997_998del (p.Val333SerfsTer?)
c.223_224del (p.Val75SerfsTer?)
n.5660_5661del
n.5701_5702del
17g.43045746C>ACA10590269BRCA1c.5521G>T (p.Val1841Leu)
c.5524G>T (p.Val1842Leu)
c.5398G>T (p.Val1800Leu)
c.5518G>T (p.Val1840Leu)
c.5446G>T (p.Val1816Leu)
c.2212G>T (p.Val738Leu)
c.2074G>T (p.Val692Leu)
c.4636G>T (p.Val1546Leu)
c.5401G>T (p.Val1801Leu)
c.5590G>T (p.Val1864Leu)
c.5383G>T (p.Val1795Leu)
c.2086G>T (p.Val696Leu)
n.1407G>T
n.888G>T
c.5587G>T (p.Val1863Leu)
c.1911G>T
c.2098G>T (p.Val700Leu)
c.*5307G>T (n.*5307G>T)
c.*38G>T (n.*38G>T)
c.454G>T (p.Val152Leu)
c.997G>T (p.Val333Leu)
c.223G>T (p.Val75Leu)
n.5660G>T
n.5701G>T
 ClinVar dbSNP
17g.43045746C=CA2260761089BRCA1c.5521G= (p.Val1841=)
c.5524G= (p.Val1842=)
c.5398G= (p.Val1800=)
c.5518G= (p.Val1840=)
c.5446G= (p.Val1816=)
c.2212G= (p.Val738=)
c.2074G= (p.Val692=)
c.4636G= (p.Val1546=)
c.5401G= (p.Val1801=)
c.5590G= (p.Val1864=)
c.5383G= (p.Val1795=)
c.2086G= (p.Val696=)
n.1407G=
n.888G=
c.5587G= (p.Val1863=)
c.1911G=
c.2098G= (p.Val700=)
c.*5307G= (n.*5307G=)
c.*38G= (n.*38G=)
c.454G= (p.Val152=)
c.997G= (p.Val333=)
c.223G= (p.Val75=)
n.5660G=
n.5701G=
17g.43045746C>GCA10590270BRCA1c.5521G>C (p.Val1841Leu)
c.5524G>C (p.Val1842Leu)
c.5398G>C (p.Val1800Leu)
c.5518G>C (p.Val1840Leu)
c.5446G>C (p.Val1816Leu)
c.2212G>C (p.Val738Leu)
c.2074G>C (p.Val692Leu)
c.4636G>C (p.Val1546Leu)
c.5401G>C (p.Val1801Leu)
c.5590G>C (p.Val1864Leu)
c.5383G>C (p.Val1795Leu)
c.2086G>C (p.Val696Leu)
n.1407G>C
n.888G>C
c.5587G>C (p.Val1863Leu)
c.1911G>C
c.2098G>C (p.Val700Leu)
c.*5307G>C (n.*5307G>C)
c.*38G>C (n.*38G>C)
c.454G>C (p.Val152Leu)
c.997G>C (p.Val333Leu)
c.223G>C (p.Val75Leu)
n.5660G>C
n.5701G>C
 ClinVar dbSNP
17g.43045746C>TCA10590271BRCA1c.5521G>A (p.Val1841Ile)
c.5524G>A (p.Val1842Ile)
c.5398G>A (p.Val1800Ile)
c.5518G>A (p.Val1840Ile)
c.5446G>A (p.Val1816Ile)
c.2212G>A (p.Val738Ile)
c.2074G>A (p.Val692Ile)
c.4636G>A (p.Val1546Ile)
c.5401G>A (p.Val1801Ile)
c.5590G>A (p.Val1864Ile)
c.5383G>A (p.Val1795Ile)
c.2086G>A (p.Val696Ile)
n.1407G>A
n.888G>A
c.5587G>A (p.Val1863Ile)
c.1911G>A
c.2098G>A (p.Val700Ile)
c.*5307G>A (n.*5307G>A)
c.*38G>A (n.*38G>A)
c.454G>A (p.Val152Ile)
c.997G>A (p.Val333Ile)
c.223G>A (p.Val75Ile)
n.5660G>A
n.5701G>A
 ClinVar dbSNP
17g.43045750_43045763delCA2499224341BRCA1c.5508_5521del (p.Trp1836CysfsTer?)
c.5511_5524del (p.Trp1837CysfsTer?)
c.5385_5398del (p.Trp1795CysfsTer?)
c.5505_5518del (p.Trp1835CysfsTer?)
c.5433_5446del (p.Trp1811CysfsTer?)
c.2199_2212del (p.Trp733CysfsTer?)
c.2061_2074del (p.Trp687CysfsTer?)
c.4623_4636del (p.Trp1541CysfsTer?)
c.5388_5401del (p.Trp1796CysfsTer?)
c.5577_5590del (p.Trp1859CysfsTer?)
c.5370_5383del (p.Trp1790CysfsTer?)
c.2073_2086del (p.Trp691CysfsTer?)
n.1394_1407del
n.875_888del
c.5574_5587del (p.Trp1858CysfsTer?)
c.1898_1911del
c.2085_2098del (p.Trp695CysfsTer?)
c.*5294_*5307del (n.*5294_*5307del)
c.*25_*38del (n.*25_*38del)
c.441_454del (p.Trp147CysfsTer?)
c.984_997del (p.Trp328CysfsTer?)
c.210_223del (p.Trp70CysfsTer?)
n.5647_5660del
n.5688_5701del
17g.43045747A=CA2260761090BRCA1c.5520T= (p.Ser1840=)
c.5523T= (p.Ser1841=)
c.5397T= (p.Ser1799=)
c.5517T= (p.Ser1839=)
c.5445T= (p.Ser1815=)
c.2211T= (p.Ser737=)
c.2073T= (p.Ser691=)
c.4635T= (p.Ser1545=)
c.5400T= (p.Ser1800=)
c.5589T= (p.Ser1863=)
c.5382T= (p.Ser1794=)
c.2085T= (p.Ser695=)
n.1406T=
n.887T=
c.5586T= (p.Ser1862=)
c.1910T=
c.2097T= (p.Ser699=)
c.*5306T= (n.*5306T=)
c.*37T= (n.*37T=)
c.453T= (p.Ser151=)
c.996T= (p.Ser332=)
c.222T= (p.Ser74=)
n.5659T=
n.5700T=
17g.43045747A>CCA10590272BRCA1c.5520T>G (p.Ser1840Arg)
c.5523T>G (p.Ser1841Arg)
c.5397T>G (p.Ser1799Arg)
c.5517T>G (p.Ser1839Arg)
c.5445T>G (p.Ser1815Arg)
c.2211T>G (p.Ser737Arg)
c.2073T>G (p.Ser691Arg)
c.4635T>G (p.Ser1545Arg)
c.5400T>G (p.Ser1800Arg)
c.5589T>G (p.Ser1863Arg)
c.5382T>G (p.Ser1794Arg)
c.2085T>G (p.Ser695Arg)
n.1406T>G
n.887T>G
c.5586T>G (p.Ser1862Arg)
c.1910T>G
c.2097T>G (p.Ser699Arg)
c.*5306T>G (n.*5306T>G)
c.*37T>G (n.*37T>G)
c.453T>G (p.Ser151Arg)
c.996T>G (p.Ser332Arg)
c.222T>G (p.Ser74Arg)
n.5659T>G
n.5700T>G
 ClinVar dbSNP
17g.43045747A>GCA10583545BRCA1c.5520T>C (p.Ser1840=)
c.5523T>C (p.Ser1841=)
c.5397T>C (p.Ser1799=)
c.5517T>C (p.Ser1839=)
c.5445T>C (p.Ser1815=)
c.2211T>C (p.Ser737=)
c.2073T>C (p.Ser691=)
c.4635T>C (p.Ser1545=)
c.5400T>C (p.Ser1800=)
c.5589T>C (p.Ser1863=)
c.5382T>C (p.Ser1794=)
c.2085T>C (p.Ser695=)
n.1406T>C
n.887T>C
c.5586T>C (p.Ser1862=)
c.1910T>C
c.2097T>C (p.Ser699=)
c.*5306T>C (n.*5306T>C)
c.*37T>C (n.*37T>C)
c.453T>C (p.Ser151=)
c.996T>C (p.Ser332=)
c.222T>C (p.Ser74=)
n.5659T>C
n.5700T>C
 ClinVar dbSNP
17g.43045747A>TCA10590273BRCA1c.5520T>A (p.Ser1840Arg)
c.5523T>A (p.Ser1841Arg)
c.5397T>A (p.Ser1799Arg)
c.5517T>A (p.Ser1839Arg)
c.5445T>A (p.Ser1815Arg)
c.2211T>A (p.Ser737Arg)
c.2073T>A (p.Ser691Arg)
c.4635T>A (p.Ser1545Arg)
c.5400T>A (p.Ser1800Arg)
c.5589T>A (p.Ser1863Arg)
c.5382T>A (p.Ser1794Arg)
c.2085T>A (p.Ser695Arg)
n.1406T>A
n.887T>A
c.5586T>A (p.Ser1862Arg)
c.1910T>A
c.2097T>A (p.Ser699Arg)
c.*5306T>A (n.*5306T>A)
c.*37T>A (n.*37T>A)
c.453T>A (p.Ser151Arg)
c.996T>A (p.Ser332Arg)
c.222T>A (p.Ser74Arg)
n.5659T>A
n.5700T>A
 ClinVar dbSNP
17g.43045749_43045756delCA2740099746BRCA1c.5513_5520del (p.Leu1838CysfsTer?)
c.5516_5523del (p.Leu1839CysfsTer?)
c.5390_5397del (p.Leu1797CysfsTer?)
c.5510_5517del (p.Leu1837CysfsTer?)
c.5438_5445del (p.Leu1813CysfsTer?)
c.2204_2211del (p.Leu735CysfsTer?)
c.2066_2073del (p.Leu689CysfsTer?)
c.4628_4635del (p.Leu1543CysfsTer?)
c.5393_5400del (p.Leu1798CysfsTer?)
c.5582_5589del (p.Leu1861CysfsTer?)
c.5375_5382del (p.Leu1792CysfsTer?)
c.2078_2085del (p.Leu693CysfsTer?)
n.1399_1406del
n.880_887del
c.5579_5586del (p.Leu1860CysfsTer?)
c.1903_1910del
c.2090_2097del (p.Leu697CysfsTer?)
c.*5299_*5306del (n.*5299_*5306del)
c.*30_*37del (n.*30_*37del)
c.446_453del (p.Leu149CysfsTer?)
c.989_996del (p.Leu330CysfsTer?)
c.215_222del (p.Leu72CysfsTer?)
n.5652_5659del
n.5693_5700del
17g.43045748C>ACA10590274BRCA1c.5519G>T (p.Ser1840Ile)
c.5522G>T (p.Ser1841Ile)
c.5396G>T (p.Ser1799Ile)
c.5516G>T (p.Ser1839Ile)
c.5444G>T (p.Ser1815Ile)
c.2210G>T (p.Ser737Ile)
c.2072G>T (p.Ser691Ile)
c.4634G>T (p.Ser1545Ile)
c.5399G>T (p.Ser1800Ile)
c.5588G>T (p.Ser1863Ile)
c.5381G>T (p.Ser1794Ile)
c.2084G>T (p.Ser695Ile)
n.1405G>T
n.886G>T
c.5585G>T (p.Ser1862Ile)
c.1909G>T
c.2096G>T (p.Ser699Ile)
c.*5305G>T (n.*5305G>T)
c.*36G>T (n.*36G>T)
c.452G>T (p.Ser151Ile)
c.995G>T (p.Ser332Ile)
c.221G>T (p.Ser74Ile)
n.5658G>T
n.5699G>T
 ClinVar dbSNP
17g.43045748C=CA2260761091BRCA1c.5519G= (p.Ser1840=)
c.5522G= (p.Ser1841=)
c.5396G= (p.Ser1799=)
c.5516G= (p.Ser1839=)
c.5444G= (p.Ser1815=)
c.2210G= (p.Ser737=)
c.2072G= (p.Ser691=)
c.4634G= (p.Ser1545=)
c.5399G= (p.Ser1800=)
c.5588G= (p.Ser1863=)
c.5381G= (p.Ser1794=)
c.2084G= (p.Ser695=)
n.1405G=
n.886G=
c.5585G= (p.Ser1862=)
c.1909G=
c.2096G= (p.Ser699=)
c.*5305G= (n.*5305G=)
c.*36G= (n.*36G=)
c.452G= (p.Ser151=)
c.995G= (p.Ser332=)
c.221G= (p.Ser74=)
n.5658G=
n.5699G=
17g.43045748C>GCA10590275BRCA1c.5519G>C (p.Ser1840Thr)
c.5522G>C (p.Ser1841Thr)
c.5396G>C (p.Ser1799Thr)
c.5516G>C (p.Ser1839Thr)
c.5444G>C (p.Ser1815Thr)
c.2210G>C (p.Ser737Thr)
c.2072G>C (p.Ser691Thr)
c.4634G>C (p.Ser1545Thr)
c.5399G>C (p.Ser1800Thr)
c.5588G>C (p.Ser1863Thr)
c.5381G>C (p.Ser1794Thr)
c.2084G>C (p.Ser695Thr)
n.1405G>C
n.886G>C
c.5585G>C (p.Ser1862Thr)
c.1909G>C
c.2096G>C (p.Ser699Thr)
c.*5305G>C (n.*5305G>C)
c.*36G>C (n.*36G>C)
c.452G>C (p.Ser151Thr)
c.995G>C (p.Ser332Thr)
c.221G>C (p.Ser74Thr)
n.5658G>C
n.5699G>C
 ClinVar dbSNP gnomAD v4
17g.43045748C>TCA003696BRCA1c.5519G>A (p.Ser1840Asn)
c.5522G>A (p.Ser1841Asn)
c.5396G>A (p.Ser1799Asn)
c.5516G>A (p.Ser1839Asn)
c.5444G>A (p.Ser1815Asn)
c.2210G>A (p.Ser737Asn)
c.2072G>A (p.Ser691Asn)
c.4634G>A (p.Ser1545Asn)
c.5399G>A (p.Ser1800Asn)
c.5588G>A (p.Ser1863Asn)
c.5381G>A (p.Ser1794Asn)
c.2084G>A (p.Ser695Asn)
n.1405G>A
n.886G>A
c.5585G>A (p.Ser1862Asn)
c.1909G>A
c.2096G>A (p.Ser699Asn)
c.*5305G>A (n.*5305G>A)
c.*36G>A (n.*36G>A)
c.452G>A (p.Ser151Asn)
c.995G>A (p.Ser332Asn)
c.221G>A (p.Ser74Asn)
n.5658G>A
n.5699G>A
 ClinVar dbSNP gnomAD v4
17g.43045748dupCA2573320613BRCA1c.5519dup (p.Ser1840ArgfsTer?)
c.5522dup (p.Ser1841ArgfsTer?)
c.5396dup (p.Ser1799ArgfsTer?)
c.5516dup (p.Ser1839ArgfsTer?)
c.5444dup (p.Ser1815ArgfsTer?)
c.2210dup (p.Ser737ArgfsTer?)
c.2072dup (p.Ser691ArgfsTer?)
c.4634dup (p.Ser1545ArgfsTer?)
c.5399dup (p.Ser1800ArgfsTer?)
c.5588dup (p.Ser1863ArgfsTer?)
c.5381dup (p.Ser1794ArgfsTer?)
c.2084dup (p.Ser695ArgfsTer?)
n.1405dup
n.886dup
c.5585dup (p.Ser1862ArgfsTer?)
c.1909dup
c.2096dup (p.Ser699ArgfsTer?)
c.*5305dup (n.*5305dup)
c.*36dup (n.*36dup)
c.452dup (p.Ser151ArgfsTer?)
c.995dup (p.Ser332ArgfsTer?)
c.221dup (p.Ser74ArgfsTer?)
n.5658dup
n.5699dup
17g.43045748_43045749delinsCTCA2260761092BRCA1c.5518_5519delinsAG (p.Ser1840=)
c.5521_5522delinsAG (p.Ser1841=)
c.5395_5396delinsAG (p.Ser1799=)
c.5515_5516delinsAG (p.Ser1839=)
c.5443_5444delinsAG (p.Ser1815=)
c.2209_2210delinsAG (p.Ser737=)
c.2071_2072delinsAG (p.Ser691=)
c.4633_4634delinsAG (p.Ser1545=)
c.5398_5399delinsAG (p.Ser1800=)
c.5587_5588delinsAG (p.Ser1863=)
c.5380_5381delinsAG (p.Ser1794=)
c.2083_2084delinsAG (p.Ser695=)
n.1404_1405delinsAG
n.885_886delinsAG
c.5584_5585delinsAG (p.Ser1862=)
c.1908_1909delinsAG
c.2095_2096delinsAG (p.Ser699=)
c.*5304_*5305delinsAG (n.*5304_*5305delinsAG)
c.*35_*36delinsAG (n.*35_*36delinsAG)
c.451_452delinsAG (p.Ser151=)
c.994_995delinsAG (p.Ser332=)
c.220_221delinsAG (p.Ser74=)
n.5657_5658delinsAG
n.5698_5699delinsAG
17g.43045749delCA003695BRCA1c.5518del (p.Ser1840ValfsTer2)
c.5521del (p.Ser1841ValfsTer2)
c.5395del (p.Ser1799ValfsTer2)
c.5515del (p.Ser1839ValfsTer2)
c.5443del (p.Ser1815ValfsTer2)
c.2209del (p.Ser737ValfsTer2)
c.2071del (p.Ser691ValfsTer2)
c.4633del (p.Ser1545ValfsTer2)
c.5398del (p.Ser1800ValfsTer2)
c.5587del (p.Ser1863ValfsTer2)
c.5380del (p.Ser1794ValfsTer2)
c.2083del (p.Ser695ValfsTer2)
n.1404del
n.885del
c.5584del (p.Ser1862ValfsTer2)
c.1908del
c.2095del (p.Ser699ValfsTer2)
c.*5304del (n.*5304del)
c.*35del (n.*35del)
c.451del (p.Ser151ValfsTer2)
c.994del (p.Ser332ValfsTer2)
c.220del (p.Ser74ValfsTer2)
n.5657del
n.5698del
 ClinVar dbSNP
17g.43045749T>ACA10590276BRCA1c.5518A>T (p.Ser1840Cys)
c.5521A>T (p.Ser1841Cys)
c.5395A>T (p.Ser1799Cys)
c.5515A>T (p.Ser1839Cys)
c.5443A>T (p.Ser1815Cys)
c.2209A>T (p.Ser737Cys)
c.2071A>T (p.Ser691Cys)
c.4633A>T (p.Ser1545Cys)
c.5398A>T (p.Ser1800Cys)
c.5587A>T (p.Ser1863Cys)
c.5380A>T (p.Ser1794Cys)
c.2083A>T (p.Ser695Cys)
n.1404A>T
n.885A>T
c.5584A>T (p.Ser1862Cys)
c.1908A>T
c.2095A>T (p.Ser699Cys)
c.*5304A>T (n.*5304A>T)
c.*35A>T (n.*35A>T)
c.451A>T (p.Ser151Cys)
c.994A>T (p.Ser332Cys)
c.220A>T (p.Ser74Cys)
n.5657A>T
n.5698A>T
 ClinVar dbSNP
17g.43045749T>CCA10590277BRCA1c.5518A>G (p.Ser1840Gly)
c.5521A>G (p.Ser1841Gly)
c.5395A>G (p.Ser1799Gly)
c.5515A>G (p.Ser1839Gly)
c.5443A>G (p.Ser1815Gly)
c.2209A>G (p.Ser737Gly)
c.2071A>G (p.Ser691Gly)
c.4633A>G (p.Ser1545Gly)
c.5398A>G (p.Ser1800Gly)
c.5587A>G (p.Ser1863Gly)
c.5380A>G (p.Ser1794Gly)
c.2083A>G (p.Ser695Gly)
n.1404A>G
n.885A>G
c.5584A>G (p.Ser1862Gly)
c.1908A>G
c.2095A>G (p.Ser699Gly)
c.*5304A>G (n.*5304A>G)
c.*35A>G (n.*35A>G)
c.451A>G (p.Ser151Gly)
c.994A>G (p.Ser332Gly)
c.220A>G (p.Ser74Gly)
n.5657A>G
n.5698A>G
 ClinVar dbSNP gnomAD v4
17g.43045749T>GCA003694BRCA1c.5518A>C (p.Ser1840Arg)
c.5521A>C (p.Ser1841Arg)
c.5395A>C (p.Ser1799Arg)
c.5515A>C (p.Ser1839Arg)
c.5443A>C (p.Ser1815Arg)
c.2209A>C (p.Ser737Arg)
c.2071A>C (p.Ser691Arg)
c.4633A>C (p.Ser1545Arg)
c.5398A>C (p.Ser1800Arg)
c.5587A>C (p.Ser1863Arg)
c.5380A>C (p.Ser1794Arg)
c.2083A>C (p.Ser695Arg)
n.1404A>C
n.885A>C
c.5584A>C (p.Ser1862Arg)
c.1908A>C
c.2095A>C (p.Ser699Arg)
c.*5304A>C (n.*5304A>C)
c.*35A>C (n.*35A>C)
c.451A>C (p.Ser151Arg)
c.994A>C (p.Ser332Arg)
c.220A>C (p.Ser74Arg)
n.5657A>C
n.5698A>C
 ClinVar dbSNP
17g.43045749T=CA2260761093BRCA1c.5518A= (p.Ser1840=)
c.5521A= (p.Ser1841=)
c.5395A= (p.Ser1799=)
c.5515A= (p.Ser1839=)
c.5443A= (p.Ser1815=)
c.2209A= (p.Ser737=)
c.2071A= (p.Ser691=)
c.4633A= (p.Ser1545=)
c.5398A= (p.Ser1800=)
c.5587A= (p.Ser1863=)
c.5380A= (p.Ser1794=)
c.2083A= (p.Ser695=)
n.1404A=
n.885A=
c.5584A= (p.Ser1862=)
c.1908A=
c.2095A= (p.Ser699=)
c.*5304A= (n.*5304A=)
c.*35A= (n.*35A=)
c.451A= (p.Ser151=)
c.994A= (p.Ser332=)
c.220A= (p.Ser74=)
n.5657A=
n.5698A=
17g.43045750G>ACA500142899BRCA1c.5517C>T (p.Asp1839=)
c.5520C>T (p.Asp1840=)
c.5394C>T (p.Asp1798=)
c.5514C>T (p.Asp1838=)
c.5442C>T (p.Asp1814=)
c.2208C>T (p.Asp736=)
c.2070C>T (p.Asp690=)
c.4632C>T (p.Asp1544=)
c.5397C>T (p.Asp1799=)
c.5586C>T (p.Asp1862=)
c.5379C>T (p.Asp1793=)
c.2082C>T (p.Asp694=)
n.1403C>T
n.884C>T
c.5583C>T (p.Asp1861=)
c.1907C>T
c.2094C>T (p.Asp698=)
c.*5303C>T (n.*5303C>T)
c.*34C>T (n.*34C>T)
c.450C>T (p.Asp150=)
c.993C>T (p.Asp331=)
c.219C>T (p.Asp73=)
n.5656C>T
n.5697C>T
 ClinVar dbSNP
17g.43045750G>CCA10590278BRCA1c.5517C>G (p.Asp1839Glu)
c.5520C>G (p.Asp1840Glu)
c.5394C>G (p.Asp1798Glu)
c.5514C>G (p.Asp1838Glu)
c.5442C>G (p.Asp1814Glu)
c.2208C>G (p.Asp736Glu)
c.2070C>G (p.Asp690Glu)
c.4632C>G (p.Asp1544Glu)
c.5397C>G (p.Asp1799Glu)
c.5586C>G (p.Asp1862Glu)
c.5379C>G (p.Asp1793Glu)
c.2082C>G (p.Asp694Glu)
n.1403C>G
n.884C>G
c.5583C>G (p.Asp1861Glu)
c.1907C>G
c.2094C>G (p.Asp698Glu)
c.*5303C>G (n.*5303C>G)
c.*34C>G (n.*34C>G)
c.450C>G (p.Asp150Glu)
c.993C>G (p.Asp331Glu)
c.219C>G (p.Asp73Glu)
n.5656C>G
n.5697C>G
 ClinVar dbSNP
17g.43045750G=CA2260761094BRCA1c.5517C= (p.Asp1839=)
c.5520C= (p.Asp1840=)
c.5394C= (p.Asp1798=)
c.5514C= (p.Asp1838=)
c.5442C= (p.Asp1814=)
c.2208C= (p.Asp736=)
c.2070C= (p.Asp690=)
c.4632C= (p.Asp1544=)
c.5397C= (p.Asp1799=)
c.5586C= (p.Asp1862=)
c.5379C= (p.Asp1793=)
c.2082C= (p.Asp694=)
n.1403C=
n.884C=
c.5583C= (p.Asp1861=)
c.1907C=
c.2094C= (p.Asp698=)
c.*5303C= (n.*5303C=)
c.*34C= (n.*34C=)
c.450C= (p.Asp150=)
c.993C= (p.Asp331=)
c.219C= (p.Asp73=)
n.5656C=
n.5697C=
17g.43045750G>TCA10590279BRCA1c.5517C>A (p.Asp1839Glu)
c.5520C>A (p.Asp1840Glu)
c.5394C>A (p.Asp1798Glu)
c.5514C>A (p.Asp1838Glu)
c.5442C>A (p.Asp1814Glu)
c.2208C>A (p.Asp736Glu)
c.2070C>A (p.Asp690Glu)
c.4632C>A (p.Asp1544Glu)
c.5397C>A (p.Asp1799Glu)
c.5586C>A (p.Asp1862Glu)
c.5379C>A (p.Asp1793Glu)
c.2082C>A (p.Asp694Glu)
n.1403C>A
n.884C>A
c.5583C>A (p.Asp1861Glu)
c.1907C>A
c.2094C>A (p.Asp698Glu)
c.*5303C>A (n.*5303C>A)
c.*34C>A (n.*34C>A)
c.450C>A (p.Asp150Glu)
c.993C>A (p.Asp331Glu)
c.219C>A (p.Asp73Glu)
n.5656C>A
n.5697C>A
 ClinVar dbSNP
17g.43045750dupCA2695226103BRCA1c.5517dup (p.Ser1840GlnfsTer?)
c.5520dup (p.Ser1841GlnfsTer?)
c.5394dup (p.Ser1799GlnfsTer?)
c.5514dup (p.Ser1839GlnfsTer?)
c.5442dup (p.Ser1815GlnfsTer?)
c.2208dup (p.Ser737GlnfsTer?)
c.2070dup (p.Ser691GlnfsTer?)
c.4632dup (p.Ser1545GlnfsTer?)
c.5397dup (p.Ser1800GlnfsTer?)
c.5586dup (p.Ser1863GlnfsTer?)
c.5379dup (p.Ser1794GlnfsTer?)
c.2082dup (p.Ser695GlnfsTer?)
n.1403dup
n.884dup
c.5583dup (p.Ser1862GlnfsTer?)
c.1907dup
c.2094dup (p.Ser699GlnfsTer?)
c.*5303dup (n.*5303dup)
c.*34dup (n.*34dup)
c.450dup (p.Ser151GlnfsTer?)
c.993dup (p.Ser332GlnfsTer?)
c.219dup (p.Ser74GlnfsTer?)
n.5656dup
n.5697dup
17g.43045751_43045814dupCA10602569BRCA1c.5465-11_5517dup
c.5468-11_5520dup
c.5342-11_5394dup
c.5462-11_5514dup
c.5390-11_5442dup
c.2156-11_2208dup
c.2018-11_2070dup
c.4580-11_4632dup
c.5345-11_5397dup
c.5534-11_5586dup
c.5327-11_5379dup
c.2030-11_2082dup
n.1351-11_1403dup
n.832-11_884dup
c.5531-11_5583dup
c.1855-11_1907dup
c.2042-11_2094dup
c.*5251-11_*5303dup
c.2082-11_*34dup
c.398-11_450dup
c.941-11_993dup
c.167-11_219dup
n.5604-11_5656dup
n.5645-11_5697dup
 ClinVar dbSNP
17g.43045751T>ACA10590280BRCA1c.5516A>T (p.Asp1839Val)
c.5519A>T (p.Asp1840Val)
c.5393A>T (p.Asp1798Val)
c.5513A>T (p.Asp1838Val)
c.5441A>T (p.Asp1814Val)
c.2207A>T (p.Asp736Val)
c.2069A>T (p.Asp690Val)
c.4631A>T (p.Asp1544Val)
c.5396A>T (p.Asp1799Val)
c.5585A>T (p.Asp1862Val)
c.5378A>T (p.Asp1793Val)
c.2081A>T (p.Asp694Val)
n.1402A>T
n.883A>T
c.5582A>T (p.Asp1861Val)
c.1906A>T
c.2093A>T (p.Asp698Val)
c.*5302A>T (n.*5302A>T)
c.*33A>T (n.*33A>T)
c.449A>T (p.Asp150Val)
c.992A>T (p.Asp331Val)
c.218A>T (p.Asp73Val)
n.5655A>T
n.5696A>T
 ClinVar dbSNP
17g.43045751T>CCA10590281BRCA1c.5516A>G (p.Asp1839Gly)
c.5519A>G (p.Asp1840Gly)
c.5393A>G (p.Asp1798Gly)
c.5513A>G (p.Asp1838Gly)
c.5441A>G (p.Asp1814Gly)
c.2207A>G (p.Asp736Gly)
c.2069A>G (p.Asp690Gly)
c.4631A>G (p.Asp1544Gly)
c.5396A>G (p.Asp1799Gly)
c.5585A>G (p.Asp1862Gly)
c.5378A>G (p.Asp1793Gly)
c.2081A>G (p.Asp694Gly)
n.1402A>G
n.883A>G
c.5582A>G (p.Asp1861Gly)
c.1906A>G
c.2093A>G (p.Asp698Gly)
c.*5302A>G (n.*5302A>G)
c.*33A>G (n.*33A>G)
c.449A>G (p.Asp150Gly)
c.992A>G (p.Asp331Gly)
c.218A>G (p.Asp73Gly)
n.5655A>G
n.5696A>G
 ClinVar dbSNP gnomAD v4
17g.43045751T>GCA10590282BRCA1c.5516A>C (p.Asp1839Ala)
c.5519A>C (p.Asp1840Ala)
c.5393A>C (p.Asp1798Ala)
c.5513A>C (p.Asp1838Ala)
c.5441A>C (p.Asp1814Ala)
c.2207A>C (p.Asp736Ala)
c.2069A>C (p.Asp690Ala)
c.4631A>C (p.Asp1544Ala)
c.5396A>C (p.Asp1799Ala)
c.5585A>C (p.Asp1862Ala)
c.5378A>C (p.Asp1793Ala)
c.2081A>C (p.Asp694Ala)
n.1402A>C
n.883A>C
c.5582A>C (p.Asp1861Ala)
c.1906A>C
c.2093A>C (p.Asp698Ala)
c.*5302A>C (n.*5302A>C)
c.*33A>C (n.*33A>C)
c.449A>C (p.Asp150Ala)
c.992A>C (p.Asp331Ala)
c.218A>C (p.Asp73Ala)
n.5655A>C
n.5696A>C
 ClinVar dbSNP
17g.43045751T=CA2260761095BRCA1c.5516A= (p.Asp1839=)
c.5519A= (p.Asp1840=)
c.5393A= (p.Asp1798=)
c.5513A= (p.Asp1838=)
c.5441A= (p.Asp1814=)
c.2207A= (p.Asp736=)
c.2069A= (p.Asp690=)
c.4631A= (p.Asp1544=)
c.5396A= (p.Asp1799=)
c.5585A= (p.Asp1862=)
c.5378A= (p.Asp1793=)
c.2081A= (p.Asp694=)
n.1402A=
n.883A=
c.5582A= (p.Asp1861=)
c.1906A=
c.2093A= (p.Asp698=)
c.*5302A= (n.*5302A=)
c.*33A= (n.*33A=)
c.449A= (p.Asp150=)
c.992A= (p.Asp331=)
c.218A= (p.Asp73=)
n.5655A=
n.5696A=
17g.43045751_43045752delinsTCCA2260761096BRCA1c.5515_5516delinsGA (p.Asp1839=)
c.5518_5519delinsGA (p.Asp1840=)
c.5392_5393delinsGA (p.Asp1798=)
c.5512_5513delinsGA (p.Asp1838=)
c.5440_5441delinsGA (p.Asp1814=)
c.2206_2207delinsGA (p.Asp736=)
c.2068_2069delinsGA (p.Asp690=)
c.4630_4631delinsGA (p.Asp1544=)
c.5395_5396delinsGA (p.Asp1799=)
c.5584_5585delinsGA (p.Asp1862=)
c.5377_5378delinsGA (p.Asp1793=)
c.2080_2081delinsGA (p.Asp694=)
n.1401_1402delinsGA
n.882_883delinsGA
c.5581_5582delinsGA (p.Asp1861=)
c.1905_1906delinsGA
c.2092_2093delinsGA (p.Asp698=)
c.*5301_*5302delinsGA (n.*5301_*5302delinsGA)
c.*32_*33delinsGA (n.*32_*33delinsGA)
c.448_449delinsGA (p.Asp150=)
c.991_992delinsGA (p.Asp331=)
c.217_218delinsGA (p.Asp73=)
n.5654_5655delinsGA
n.5695_5696delinsGA
17g.43045752C>ACA10590283BRCA1c.5515G>T (p.Asp1839Tyr)
c.5518G>T (p.Asp1840Tyr)
c.5392G>T (p.Asp1798Tyr)
c.5512G>T (p.Asp1838Tyr)
c.5440G>T (p.Asp1814Tyr)
c.2206G>T (p.Asp736Tyr)
c.2068G>T (p.Asp690Tyr)
c.4630G>T (p.Asp1544Tyr)
c.5395G>T (p.Asp1799Tyr)
c.5584G>T (p.Asp1862Tyr)
c.5377G>T (p.Asp1793Tyr)
c.2080G>T (p.Asp694Tyr)
n.1401G>T
n.882G>T
c.5581G>T (p.Asp1861Tyr)
c.1905G>T
c.2092G>T (p.Asp698Tyr)
c.*5301G>T (n.*5301G>T)
c.*32G>T (n.*32G>T)
c.448G>T (p.Asp150Tyr)
c.991G>T (p.Asp331Tyr)
c.217G>T (p.Asp73Tyr)
n.5654G>T
n.5695G>T
 ClinVar dbSNP
17g.43045752C=CA2260761097BRCA1c.5515G= (p.Asp1839=)
c.5518G= (p.Asp1840=)
c.5392G= (p.Asp1798=)
c.5512G= (p.Asp1838=)
c.5440G= (p.Asp1814=)
c.2206G= (p.Asp736=)
c.2068G= (p.Asp690=)
c.4630G= (p.Asp1544=)
c.5395G= (p.Asp1799=)
c.5584G= (p.Asp1862=)
c.5377G= (p.Asp1793=)
c.2080G= (p.Asp694=)
n.1401G=
n.882G=
c.5581G= (p.Asp1861=)
c.1905G=
c.2092G= (p.Asp698=)
c.*5301G= (n.*5301G=)
c.*32G= (n.*32G=)
c.448G= (p.Asp150=)
c.991G= (p.Asp331=)
c.217G= (p.Asp73=)
n.5654G=
n.5695G=
17g.43045752C>GCA10590284BRCA1c.5515G>C (p.Asp1839His)
c.5518G>C (p.Asp1840His)
c.5392G>C (p.Asp1798His)
c.5512G>C (p.Asp1838His)
c.5440G>C (p.Asp1814His)
c.2206G>C (p.Asp736His)
c.2068G>C (p.Asp690His)
c.4630G>C (p.Asp1544His)
c.5395G>C (p.Asp1799His)
c.5584G>C (p.Asp1862His)
c.5377G>C (p.Asp1793His)
c.2080G>C (p.Asp694His)
n.1401G>C
n.882G>C
c.5581G>C (p.Asp1861His)
c.1905G>C
c.2092G>C (p.Asp698His)
c.*5301G>C (n.*5301G>C)
c.*32G>C (n.*32G>C)
c.448G>C (p.Asp150His)
c.991G>C (p.Asp331His)
c.217G>C (p.Asp73His)
n.5654G>C
n.5695G>C
 ClinVar dbSNP
17g.43045752C>TCA10590285BRCA1c.5515G>A (p.Asp1839Asn)
c.5518G>A (p.Asp1840Asn)
c.5392G>A (p.Asp1798Asn)
c.5512G>A (p.Asp1838Asn)
c.5440G>A (p.Asp1814Asn)
c.2206G>A (p.Asp736Asn)
c.2068G>A (p.Asp690Asn)
c.4630G>A (p.Asp1544Asn)
c.5395G>A (p.Asp1799Asn)
c.5584G>A (p.Asp1862Asn)
c.5377G>A (p.Asp1793Asn)
c.2080G>A (p.Asp694Asn)
n.1401G>A
n.882G>A
c.5581G>A (p.Asp1861Asn)
c.1905G>A
c.2092G>A (p.Asp698Asn)
c.*5301G>A (n.*5301G>A)
c.*32G>A (n.*32G>A)
c.448G>A (p.Asp150Asn)
c.991G>A (p.Asp331Asn)
c.217G>A (p.Asp73Asn)
n.5654G>A
n.5695G>A
 ClinVar dbSNP gnomAD v4
17g.43045753delCA658824707BRCA1c.5515del (p.Asp1839ThrfsTer3)
c.5518del (p.Asp1840ThrfsTer3)
c.5392del (p.Asp1798ThrfsTer3)
c.5512del (p.Asp1838ThrfsTer3)
c.5440del (p.Asp1814ThrfsTer3)
c.2206del (p.Asp736ThrfsTer3)
c.2068del (p.Asp690ThrfsTer3)
c.4630del (p.Asp1544ThrfsTer3)
c.5395del (p.Asp1799ThrfsTer3)
c.5584del (p.Asp1862ThrfsTer3)
c.5377del (p.Asp1793ThrfsTer3)
c.2080del (p.Asp694ThrfsTer3)
n.1401del
n.882del
c.5581del (p.Asp1861ThrfsTer3)
c.1905del
c.2092del (p.Asp698ThrfsTer3)
c.*5301del (n.*5301del)
c.*32del (n.*32del)
c.448del (p.Asp150ThrfsTer3)
c.991del (p.Asp331ThrfsTer3)
c.217del (p.Asp73ThrfsTer3)
n.5654del
n.5695del
 ClinVar dbSNP
17g.43045752_43045753insGCA915950025BRCA1c.5514_5515insC (p.Asp1839ArgfsTer?)
c.5517_5518insC (p.Asp1840ArgfsTer?)
c.5391_5392insC (p.Asp1798ArgfsTer?)
c.5511_5512insC (p.Asp1838ArgfsTer?)
c.5439_5440insC (p.Asp1814ArgfsTer?)
c.2205_2206insC (p.Asp736ArgfsTer?)
c.2067_2068insC (p.Asp690ArgfsTer?)
c.4629_4630insC (p.Asp1544ArgfsTer?)
c.5394_5395insC (p.Asp1799ArgfsTer?)
c.5583_5584insC (p.Asp1862ArgfsTer?)
c.5376_5377insC (p.Asp1793ArgfsTer?)
c.2079_2080insC (p.Asp694ArgfsTer?)
n.1400_1401insC
n.881_882insC
c.5580_5581insC (p.Asp1861ArgfsTer?)
c.1904_1905insC
c.2091_2092insC (p.Asp698ArgfsTer?)
c.*5300_*5301insC (n.*5300_*5301insC)
c.*31_*32insC (n.*31_*32insC)
c.447_448insC (p.Asp150ArgfsTer?)
c.990_991insC (p.Asp331ArgfsTer?)
c.216_217insC (p.Asp73ArgfsTer?)
n.5653_5654insC
n.5694_5695insC
 ClinVar dbSNP
17g.43045753C>ACA10590286BRCA1c.5514G>T (p.Leu1838Phe)
c.5517G>T (p.Leu1839Phe)
c.5391G>T (p.Leu1797Phe)
c.5511G>T (p.Leu1837Phe)
c.5439G>T (p.Leu1813Phe)
c.2205G>T (p.Leu735Phe)
c.2067G>T (p.Leu689Phe)
c.4629G>T (p.Leu1543Phe)
c.5394G>T (p.Leu1798Phe)
c.5583G>T (p.Leu1861Phe)
c.5376G>T (p.Leu1792Phe)
c.2079G>T (p.Leu693Phe)
n.1400G>T
n.881G>T
c.5580G>T (p.Leu1860Phe)
c.1904G>T
c.2091G>T (p.Leu697Phe)
c.*5300G>T (n.*5300G>T)
c.*31G>T (n.*31G>T)
c.447G>T (p.Leu149Phe)
c.990G>T (p.Leu330Phe)
c.216G>T (p.Leu72Phe)
n.5653G>T
n.5694G>T
 ClinVar dbSNP
17g.43045753C=CA2260761098BRCA1c.5514G= (p.Leu1838=)
c.5517G= (p.Leu1839=)
c.5391G= (p.Leu1797=)
c.5511G= (p.Leu1837=)
c.5439G= (p.Leu1813=)
c.2205G= (p.Leu735=)
c.2067G= (p.Leu689=)
c.4629G= (p.Leu1543=)
c.5394G= (p.Leu1798=)
c.5583G= (p.Leu1861=)
c.5376G= (p.Leu1792=)
c.2079G= (p.Leu693=)
n.1400G=
n.881G=
c.5580G= (p.Leu1860=)
c.1904G=
c.2091G= (p.Leu697=)
c.*5300G= (n.*5300G=)
c.*31G= (n.*31G=)
c.447G= (p.Leu149=)
c.990G= (p.Leu330=)
c.216G= (p.Leu72=)
n.5653G=
n.5694G=
17g.43045753C>GCA10590287BRCA1c.5514G>C (p.Leu1838Phe)
c.5517G>C (p.Leu1839Phe)
c.5391G>C (p.Leu1797Phe)
c.5511G>C (p.Leu1837Phe)
c.5439G>C (p.Leu1813Phe)
c.2205G>C (p.Leu735Phe)
c.2067G>C (p.Leu689Phe)
c.4629G>C (p.Leu1543Phe)
c.5394G>C (p.Leu1798Phe)
c.5583G>C (p.Leu1861Phe)
c.5376G>C (p.Leu1792Phe)
c.2079G>C (p.Leu693Phe)
n.1400G>C
n.881G>C
c.5580G>C (p.Leu1860Phe)
c.1904G>C
c.2091G>C (p.Leu697Phe)
c.*5300G>C (n.*5300G>C)
c.*31G>C (n.*31G>C)
c.447G>C (p.Leu149Phe)
c.990G>C (p.Leu330Phe)
c.216G>C (p.Leu72Phe)
n.5653G>C
n.5694G>C
 ClinVar dbSNP
17g.43045753C>TCA500142900BRCA1c.5514G>A (p.Leu1838=)
c.5517G>A (p.Leu1839=)
c.5391G>A (p.Leu1797=)
c.5511G>A (p.Leu1837=)
c.5439G>A (p.Leu1813=)
c.2205G>A (p.Leu735=)
c.2067G>A (p.Leu689=)
c.4629G>A (p.Leu1543=)
c.5394G>A (p.Leu1798=)
c.5583G>A (p.Leu1861=)
c.5376G>A (p.Leu1792=)
c.2079G>A (p.Leu693=)
n.1400G>A
n.881G>A
c.5580G>A (p.Leu1860=)
c.1904G>A
c.2091G>A (p.Leu697=)
c.*5300G>A (n.*5300G>A)
c.*31G>A (n.*31G>A)
c.447G>A (p.Leu149=)
c.990G>A (p.Leu330=)
c.216G>A (p.Leu72=)
n.5653G>A
n.5694G>A
 dbSNP
17g.43045754A=CA2260761099BRCA1c.5513T= (p.Leu1838=)
c.5516T= (p.Leu1839=)
c.5390T= (p.Leu1797=)
c.5510T= (p.Leu1837=)
c.5438T= (p.Leu1813=)
c.2204T= (p.Leu735=)
c.2066T= (p.Leu689=)
c.4628T= (p.Leu1543=)
c.5393T= (p.Leu1798=)
c.5582T= (p.Leu1861=)
c.5375T= (p.Leu1792=)
c.2078T= (p.Leu693=)
n.1399T=
n.880T=
c.5579T= (p.Leu1860=)
c.1903T=
c.2090T= (p.Leu697=)
c.*5299T= (n.*5299T=)
c.*30T= (n.*30T=)
c.446T= (p.Leu149=)
c.989T= (p.Leu330=)
c.215T= (p.Leu72=)
n.5652T=
n.5693T=
17g.43045754A>CCA10590288BRCA1c.5513T>G (p.Leu1838Trp)
c.5516T>G (p.Leu1839Trp)
c.5390T>G (p.Leu1797Trp)
c.5510T>G (p.Leu1837Trp)
c.5438T>G (p.Leu1813Trp)
c.2204T>G (p.Leu735Trp)
c.2066T>G (p.Leu689Trp)
c.4628T>G (p.Leu1543Trp)
c.5393T>G (p.Leu1798Trp)
c.5582T>G (p.Leu1861Trp)
c.5375T>G (p.Leu1792Trp)
c.2078T>G (p.Leu693Trp)
n.1399T>G
n.880T>G
c.5579T>G (p.Leu1860Trp)
c.1903T>G
c.2090T>G (p.Leu697Trp)
c.*5299T>G (n.*5299T>G)
c.*30T>G (n.*30T>G)
c.446T>G (p.Leu149Trp)
c.989T>G (p.Leu330Trp)
c.215T>G (p.Leu72Trp)
n.5652T>G
n.5693T>G
 dbSNP
17g.43045754A>GCA003693BRCA1c.5513T>C (p.Leu1838Ser)
c.5516T>C (p.Leu1839Ser)
c.5390T>C (p.Leu1797Ser)
c.5510T>C (p.Leu1837Ser)
c.5438T>C (p.Leu1813Ser)
c.2204T>C (p.Leu735Ser)
c.2066T>C (p.Leu689Ser)
c.4628T>C (p.Leu1543Ser)
c.5393T>C (p.Leu1798Ser)
c.5582T>C (p.Leu1861Ser)
c.5375T>C (p.Leu1792Ser)
c.2078T>C (p.Leu693Ser)
n.1399T>C
n.880T>C
c.5579T>C (p.Leu1860Ser)
c.1903T>C
c.2090T>C (p.Leu697Ser)
c.*5299T>C (n.*5299T>C)
c.*30T>C (n.*30T>C)
c.446T>C (p.Leu149Ser)
c.989T>C (p.Leu330Ser)
c.215T>C (p.Leu72Ser)
n.5652T>C
n.5693T>C
 ClinVar dbSNP
17g.43045754A>TCA10590289BRCA1c.5513T>A (p.Leu1838Ter)
c.5516T>A (p.Leu1839Ter)
c.5390T>A (p.Leu1797Ter)
c.5510T>A (p.Leu1837Ter)
c.5438T>A (p.Leu1813Ter)
c.2204T>A (p.Leu735Ter)
c.2066T>A (p.Leu689Ter)
c.4628T>A (p.Leu1543Ter)
c.5393T>A (p.Leu1798Ter)
c.5582T>A (p.Leu1861Ter)
c.5375T>A (p.Leu1792Ter)
c.2078T>A (p.Leu693Ter)
n.1399T>A
n.880T>A
c.5579T>A (p.Leu1860Ter)
c.1903T>A
c.2090T>A (p.Leu697Ter)
c.*5299T>A (n.*5299T>A)
c.*30T>A (n.*30T>A)
c.446T>A (p.Leu149Ter)
c.989T>A (p.Leu330Ter)
c.215T>A (p.Leu72Ter)
n.5652T>A
n.5693T>A
 ClinVar dbSNP
17g.43045755delCA2573153992BRCA1c.5513del (p.Leu1838TrpfsTer4)
c.5516del (p.Leu1839TrpfsTer4)
c.5390del (p.Leu1797TrpfsTer4)
c.5510del (p.Leu1837TrpfsTer4)
c.5438del (p.Leu1813TrpfsTer4)
c.2204del (p.Leu735TrpfsTer4)
c.2066del (p.Leu689TrpfsTer4)
c.4628del (p.Leu1543TrpfsTer4)
c.5393del (p.Leu1798TrpfsTer4)
c.5582del (p.Leu1861TrpfsTer4)
c.5375del (p.Leu1792TrpfsTer4)
c.2078del (p.Leu693TrpfsTer4)
n.1399del
n.880del
c.5579del (p.Leu1860TrpfsTer4)
c.1903del
c.2090del (p.Leu697TrpfsTer4)
c.*5299del (n.*5299del)
c.*30del (n.*30del)
c.446del (p.Leu149TrpfsTer4)
c.989del (p.Leu330TrpfsTer4)
c.215del (p.Leu72TrpfsTer4)
n.5652del
n.5693del
 ClinVar dbSNP
17g.43045755A=CA2260761100BRCA1c.5512T= (p.Leu1838=)
c.5515T= (p.Leu1839=)
c.5389T= (p.Leu1797=)
c.5509T= (p.Leu1837=)
c.5437T= (p.Leu1813=)
c.2203T= (p.Leu735=)
c.2065T= (p.Leu689=)
c.4627T= (p.Leu1543=)
c.5392T= (p.Leu1798=)
c.5581T= (p.Leu1861=)
c.5374T= (p.Leu1792=)
c.2077T= (p.Leu693=)
n.1398T=
n.879T=
c.5578T= (p.Leu1860=)
c.1902T=
c.2089T= (p.Leu697=)
c.*5298T= (n.*5298T=)
c.*29T= (n.*29T=)
c.445T= (p.Leu149=)
c.988T= (p.Leu330=)
c.214T= (p.Leu72=)
n.5651T=
n.5692T=
17g.43045755A>CCA10590290BRCA1c.5512T>G (p.Leu1838Val)
c.5515T>G (p.Leu1839Val)
c.5389T>G (p.Leu1797Val)
c.5509T>G (p.Leu1837Val)
c.5437T>G (p.Leu1813Val)
c.2203T>G (p.Leu735Val)
c.2065T>G (p.Leu689Val)
c.4627T>G (p.Leu1543Val)
c.5392T>G (p.Leu1798Val)
c.5581T>G (p.Leu1861Val)
c.5374T>G (p.Leu1792Val)
c.2077T>G (p.Leu693Val)
n.1398T>G
n.879T>G
c.5578T>G (p.Leu1860Val)
c.1902T>G
c.2089T>G (p.Leu697Val)
c.*5298T>G (n.*5298T>G)
c.*29T>G (n.*29T>G)
c.445T>G (p.Leu149Val)
c.988T>G (p.Leu330Val)
c.214T>G (p.Leu72Val)
n.5651T>G
n.5692T>G
 ClinVar dbSNP
17g.43045755A>GCA500142902BRCA1c.5512T>C (p.Leu1838=)
c.5515T>C (p.Leu1839=)
c.5389T>C (p.Leu1797=)
c.5509T>C (p.Leu1837=)
c.5437T>C (p.Leu1813=)
c.2203T>C (p.Leu735=)
c.2065T>C (p.Leu689=)
c.4627T>C (p.Leu1543=)
c.5392T>C (p.Leu1798=)
c.5581T>C (p.Leu1861=)
c.5374T>C (p.Leu1792=)
c.2077T>C (p.Leu693=)
n.1398T>C
n.879T>C
c.5578T>C (p.Leu1860=)
c.1902T>C
c.2089T>C (p.Leu697=)
c.*5298T>C (n.*5298T>C)
c.*29T>C (n.*29T>C)
c.445T>C (p.Leu149=)
c.988T>C (p.Leu330=)
c.214T>C (p.Leu72=)
n.5651T>C
n.5692T>C
 ClinVar dbSNP
17g.43045755A>TCA10590291BRCA1c.5512T>A (p.Leu1838Met)
c.5515T>A (p.Leu1839Met)
c.5389T>A (p.Leu1797Met)
c.5509T>A (p.Leu1837Met)
c.5437T>A (p.Leu1813Met)
c.2203T>A (p.Leu735Met)
c.2065T>A (p.Leu689Met)
c.4627T>A (p.Leu1543Met)
c.5392T>A (p.Leu1798Met)
c.5581T>A (p.Leu1861Met)
c.5374T>A (p.Leu1792Met)
c.2077T>A (p.Leu693Met)
n.1398T>A
n.879T>A
c.5578T>A (p.Leu1860Met)
c.1902T>A
c.2089T>A (p.Leu697Met)
c.*5298T>A (n.*5298T>A)
c.*29T>A (n.*29T>A)
c.445T>A (p.Leu149Met)
c.988T>A (p.Leu330Met)
c.214T>A (p.Leu72Met)
n.5651T>A
n.5692T>A
 dbSNP
17g.43045756delCA2573153993BRCA1c.5511del (p.Leu1838TrpfsTer4)
c.5514del (p.Leu1839TrpfsTer4)
c.5388del (p.Leu1797TrpfsTer4)
c.5508del (p.Leu1837TrpfsTer4)
c.5436del (p.Leu1813TrpfsTer4)
c.2202del (p.Leu735TrpfsTer4)
c.2064del (p.Leu689TrpfsTer4)
c.4626del (p.Leu1543TrpfsTer4)
c.5391del (p.Leu1798TrpfsTer4)
c.5580del (p.Leu1861TrpfsTer4)
c.5373del (p.Leu1792TrpfsTer4)
c.2076del (p.Leu693TrpfsTer4)
n.1397del
n.878del
c.5577del (p.Leu1860TrpfsTer4)
c.1901del
c.2088del (p.Leu697TrpfsTer4)
c.*5297del (n.*5297del)
c.*28del (n.*28del)
c.444del (p.Leu149TrpfsTer4)
c.987del (p.Leu330TrpfsTer4)
c.213del (p.Leu72TrpfsTer4)
n.5650del
n.5691del
 ClinVar dbSNP
17g.43045756C>ACA003692BRCA1c.5511G>T (p.Val1837=)
c.5514G>T (p.Val1838=)
c.5388G>T (p.Val1796=)
c.5508G>T (p.Val1836=)
c.5436G>T (p.Val1812=)
c.2202G>T (p.Val734=)
c.2064G>T (p.Val688=)
c.4626G>T (p.Val1542=)
c.5391G>T (p.Val1797=)
c.5580G>T (p.Val1860=)
c.5373G>T (p.Val1791=)
c.2076G>T (p.Val692=)
n.1397G>T
n.878G>T
c.5577G>T (p.Val1859=)
c.1901G>T
c.2088G>T (p.Val696=)
c.*5297G>T (n.*5297G>T)
c.*28G>T (n.*28G>T)
c.444G>T (p.Val148=)
c.987G>T (p.Val329=)
c.213G>T (p.Val71=)
n.5650G>T
n.5691G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.43045756C=CA2260761101BRCA1c.5511G= (p.Val1837=)
c.5514G= (p.Val1838=)
c.5388G= (p.Val1796=)
c.5508G= (p.Val1836=)
c.5436G= (p.Val1812=)
c.2202G= (p.Val734=)
c.2064G= (p.Val688=)
c.4626G= (p.Val1542=)
c.5391G= (p.Val1797=)
c.5580G= (p.Val1860=)
c.5373G= (p.Val1791=)
c.2076G= (p.Val692=)
n.1397G=
n.878G=
c.5577G= (p.Val1859=)
c.1901G=
c.2088G= (p.Val696=)
c.*5297G= (n.*5297G=)
c.*28G= (n.*28G=)
c.444G= (p.Val148=)
c.987G= (p.Val329=)
c.213G= (p.Val71=)
n.5650G=
n.5691G=
17g.43045756C>GCA500142904BRCA1c.5511G>C (p.Val1837=)
c.5514G>C (p.Val1838=)
c.5388G>C (p.Val1796=)
c.5508G>C (p.Val1836=)
c.5436G>C (p.Val1812=)
c.2202G>C (p.Val734=)
c.2064G>C (p.Val688=)
c.4626G>C (p.Val1542=)
c.5391G>C (p.Val1797=)
c.5580G>C (p.Val1860=)
c.5373G>C (p.Val1791=)
c.2076G>C (p.Val692=)
n.1397G>C
n.878G>C
c.5577G>C (p.Val1859=)
c.1901G>C
c.2088G>C (p.Val696=)
c.*5297G>C (n.*5297G>C)
c.*28G>C (n.*28G>C)
c.444G>C (p.Val148=)
c.987G>C (p.Val329=)
c.213G>C (p.Val71=)
n.5650G>C
n.5691G>C
 ClinVar dbSNP
17g.43045756C>TCA500142905BRCA1c.5511G>A (p.Val1837=)
c.5514G>A (p.Val1838=)
c.5388G>A (p.Val1796=)
c.5508G>A (p.Val1836=)
c.5436G>A (p.Val1812=)
c.2202G>A (p.Val734=)
c.2064G>A (p.Val688=)
c.4626G>A (p.Val1542=)
c.5391G>A (p.Val1797=)
c.5580G>A (p.Val1860=)
c.5373G>A (p.Val1791=)
c.2076G>A (p.Val692=)
n.1397G>A
n.878G>A
c.5577G>A (p.Val1859=)
c.1901G>A
c.2088G>A (p.Val696=)
c.*5297G>A (n.*5297G>A)
c.*28G>A (n.*28G>A)
c.444G>A (p.Val148=)
c.987G>A (p.Val329=)
c.213G>A (p.Val71=)
n.5650G>A
n.5691G>A
 ClinVar dbSNP gnomAD v4
17g.43045760_43045774delCA003669BRCA1c.5497_5511del (p.Thr1833_Val1837del)
c.5500_5514del (p.Thr1834_Val1838del)
c.5374_5388del (p.Thr1792_Val1796del)
c.5494_5508del (p.Thr1832_Val1836del)
c.5422_5436del (p.Thr1808_Val1812del)
c.2188_2202del (p.Thr730_Val734del)
c.2050_2064del (p.Thr684_Val688del)
c.4612_4626del (p.Thr1538_Val1542del)
c.5377_5391del (p.Thr1793_Val1797del)
c.5566_5580del (p.Thr1856_Val1860del)
c.5359_5373del (p.Thr1787_Val1791del)
c.2062_2076del (p.Thr688_Val692del)
n.1383_1397del
n.864_878del
c.5563_5577del (p.Thr1855_Val1859del)
c.1887_1901del
c.2074_2088del (p.Thr692_Val696del)
c.*5283_*5297del (n.*5283_*5297del)
c.*14_*28del (n.*14_*28del)
c.430_444del (p.Thr144_Val148del)
c.973_987del (p.Thr325_Val329del)
c.199_213del (p.Thr67_Val71del)
n.5636_5650del
n.5677_5691del
17g.43045757A=CA2260761102BRCA1c.5510T= (p.Val1837=)
c.5513T= (p.Val1838=)
c.5387T= (p.Val1796=)
c.5507T= (p.Val1836=)
c.5435T= (p.Val1812=)
c.2201T= (p.Val734=)
c.2063T= (p.Val688=)
c.4625T= (p.Val1542=)
c.5390T= (p.Val1797=)
c.5579T= (p.Val1860=)
c.5372T= (p.Val1791=)
c.2075T= (p.Val692=)
n.1396T=
n.877T=
c.5576T= (p.Val1859=)
c.1900T=
c.2087T= (p.Val696=)
c.*5296T= (n.*5296T=)
c.*27T= (n.*27T=)
c.443T= (p.Val148=)
c.986T= (p.Val329=)
c.212T= (p.Val71=)
n.5649T=
n.5690T=
17g.43045757A>CCA10586676BRCA1c.5510T>G (p.Val1837Gly)
c.5513T>G (p.Val1838Gly)
c.5387T>G (p.Val1796Gly)
c.5507T>G (p.Val1836Gly)
c.5435T>G (p.Val1812Gly)
c.2201T>G (p.Val734Gly)
c.2063T>G (p.Val688Gly)
c.4625T>G (p.Val1542Gly)
c.5390T>G (p.Val1797Gly)
c.5579T>G (p.Val1860Gly)
c.5372T>G (p.Val1791Gly)
c.2075T>G (p.Val692Gly)
n.1396T>G
n.877T>G
c.5576T>G (p.Val1859Gly)
c.1900T>G
c.2087T>G (p.Val696Gly)
c.*5296T>G (n.*5296T>G)
c.*27T>G (n.*27T>G)
c.443T>G (p.Val148Gly)
c.986T>G (p.Val329Gly)
c.212T>G (p.Val71Gly)
n.5649T>G
n.5690T>G
 ClinVar dbSNP
17g.43045757A>GCA10590292BRCA1c.5510T>C (p.Val1837Ala)
c.5513T>C (p.Val1838Ala)
c.5387T>C (p.Val1796Ala)
c.5507T>C (p.Val1836Ala)
c.5435T>C (p.Val1812Ala)
c.2201T>C (p.Val734Ala)
c.2063T>C (p.Val688Ala)
c.4625T>C (p.Val1542Ala)
c.5390T>C (p.Val1797Ala)
c.5579T>C (p.Val1860Ala)
c.5372T>C (p.Val1791Ala)
c.2075T>C (p.Val692Ala)
n.1396T>C
n.877T>C
c.5576T>C (p.Val1859Ala)
c.1900T>C
c.2087T>C (p.Val696Ala)
c.*5296T>C (n.*5296T>C)
c.*27T>C (n.*27T>C)
c.443T>C (p.Val148Ala)
c.986T>C (p.Val329Ala)
c.212T>C (p.Val71Ala)
n.5649T>C
n.5690T>C
 ClinVar dbSNP
17g.43045757A>TCA003690BRCA1c.5510T>A (p.Val1837Glu)
c.5513T>A (p.Val1838Glu)
c.5387T>A (p.Val1796Glu)
c.5507T>A (p.Val1836Glu)
c.5435T>A (p.Val1812Glu)
c.2201T>A (p.Val734Glu)
c.2063T>A (p.Val688Glu)
c.4625T>A (p.Val1542Glu)
c.5390T>A (p.Val1797Glu)
c.5579T>A (p.Val1860Glu)
c.5372T>A (p.Val1791Glu)
c.2075T>A (p.Val692Glu)
n.1396T>A
n.877T>A
c.5576T>A (p.Val1859Glu)
c.1900T>A
c.2087T>A (p.Val696Glu)
c.*5296T>A (n.*5296T>A)
c.*27T>A (n.*27T>A)
c.443T>A (p.Val148Glu)
c.986T>A (p.Val329Glu)
c.212T>A (p.Val71Glu)
n.5649T>A
n.5690T>A
 ClinVar dbSNP
17g.43045757_43045758delinsACCA2260761103BRCA1c.5509_5510delinsGT (p.Val1837=)
c.5512_5513delinsGT (p.Val1838=)
c.5386_5387delinsGT (p.Val1796=)
c.5506_5507delinsGT (p.Val1836=)
c.5434_5435delinsGT (p.Val1812=)
c.2200_2201delinsGT (p.Val734=)
c.2062_2063delinsGT (p.Val688=)
c.4624_4625delinsGT (p.Val1542=)
c.5389_5390delinsGT (p.Val1797=)
c.5578_5579delinsGT (p.Val1860=)
c.5371_5372delinsGT (p.Val1791=)
c.2074_2075delinsGT (p.Val692=)
n.1395_1396delinsGT
n.876_877delinsGT
c.5575_5576delinsGT (p.Val1859=)
c.1899_1900delinsGT
c.2086_2087delinsGT (p.Val696=)
c.*5295_*5296delinsGT (n.*5295_*5296delinsGT)
c.*26_*27delinsGT (n.*26_*27delinsGT)
c.442_443delinsGT (p.Val148=)
c.985_986delinsGT (p.Val329=)
c.211_212delinsGT (p.Val71=)
n.5648_5649delinsGT
n.5689_5690delinsGT
17g.43045758C>ACA003689BRCA1c.5509G>T (p.Val1837Leu)
c.5512G>T (p.Val1838Leu)
c.5386G>T (p.Val1796Leu)
c.5506G>T (p.Val1836Leu)
c.5434G>T (p.Val1812Leu)
c.2200G>T (p.Val734Leu)
c.2062G>T (p.Val688Leu)
c.4624G>T (p.Val1542Leu)
c.5389G>T (p.Val1797Leu)
c.5578G>T (p.Val1860Leu)
c.5371G>T (p.Val1791Leu)
c.2074G>T (p.Val692Leu)
n.1395G>T
n.876G>T
c.5575G>T (p.Val1859Leu)
c.1899G>T
c.2086G>T (p.Val696Leu)
c.*5295G>T (n.*5295G>T)
c.*26G>T (n.*26G>T)
c.442G>T (p.Val148Leu)
c.985G>T (p.Val329Leu)
c.211G>T (p.Val71Leu)
n.5648G>T
n.5689G>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045758C=CA2260761105BRCA1c.5509G= (p.Val1837=)
c.5512G= (p.Val1838=)
c.5386G= (p.Val1796=)
c.5506G= (p.Val1836=)
c.5434G= (p.Val1812=)
c.2200G= (p.Val734=)
c.2062G= (p.Val688=)
c.4624G= (p.Val1542=)
c.5389G= (p.Val1797=)
c.5578G= (p.Val1860=)
c.5371G= (p.Val1791=)
c.2074G= (p.Val692=)
n.1395G=
n.876G=
c.5575G= (p.Val1859=)
c.1899G=
c.2086G= (p.Val696=)
c.*5295G= (n.*5295G=)
c.*26G= (n.*26G=)
c.442G= (p.Val148=)
c.985G= (p.Val329=)
c.211G= (p.Val71=)
n.5648G=
n.5689G=
17g.43045758C>GCA10590293BRCA1c.5509G>C (p.Val1837Leu)
c.5512G>C (p.Val1838Leu)
c.5386G>C (p.Val1796Leu)
c.5506G>C (p.Val1836Leu)
c.5434G>C (p.Val1812Leu)
c.2200G>C (p.Val734Leu)
c.2062G>C (p.Val688Leu)
c.4624G>C (p.Val1542Leu)
c.5389G>C (p.Val1797Leu)
c.5578G>C (p.Val1860Leu)
c.5371G>C (p.Val1791Leu)
c.2074G>C (p.Val692Leu)
n.1395G>C
n.876G>C
c.5575G>C (p.Val1859Leu)
c.1899G>C
c.2086G>C (p.Val696Leu)
c.*5295G>C (n.*5295G>C)
c.*26G>C (n.*26G>C)
c.442G>C (p.Val148Leu)
c.985G>C (p.Val329Leu)
c.211G>C (p.Val71Leu)
n.5648G>C
n.5689G>C
 ClinVar dbSNP
17g.43045758C>TCA003688BRCA1c.5509G>A (p.Val1837Met)
c.5512G>A (p.Val1838Met)
c.5386G>A (p.Val1796Met)
c.5506G>A (p.Val1836Met)
c.5434G>A (p.Val1812Met)
c.2200G>A (p.Val734Met)
c.2062G>A (p.Val688Met)
c.4624G>A (p.Val1542Met)
c.5389G>A (p.Val1797Met)
c.5578G>A (p.Val1860Met)
c.5371G>A (p.Val1791Met)
c.2074G>A (p.Val692Met)
n.1395G>A
n.876G>A
c.5575G>A (p.Val1859Met)
c.1899G>A
c.2086G>A (p.Val696Met)
c.*5295G>A (n.*5295G>A)
c.*26G>A (n.*26G>A)
c.442G>A (p.Val148Met)
c.985G>A (p.Val329Met)
c.211G>A (p.Val71Met)
n.5648G>A
n.5689G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.43045760dupCA2499224342BRCA1c.5509dup (p.Val1837GlyfsTer?)
c.5512dup (p.Val1838GlyfsTer?)
c.5386dup (p.Val1796GlyfsTer?)
c.5506dup (p.Val1836GlyfsTer?)
c.5434dup (p.Val1812GlyfsTer?)
c.2200dup (p.Val734GlyfsTer?)
c.2062dup (p.Val688GlyfsTer?)
c.4624dup (p.Val1542GlyfsTer?)
c.5389dup (p.Val1797GlyfsTer?)
c.5578dup (p.Val1860GlyfsTer?)
c.5371dup (p.Val1791GlyfsTer?)
c.2074dup (p.Val692GlyfsTer?)
n.1395dup
n.876dup
c.5575dup (p.Val1859GlyfsTer?)
c.1899dup
c.2086dup (p.Val696GlyfsTer?)
c.*5295dup (n.*5295dup)
c.*26dup (n.*26dup)
c.442dup (p.Val148GlyfsTer?)
c.985dup (p.Val329GlyfsTer?)
c.211dup (p.Val71GlyfsTer?)
n.5648dup
n.5689dup
17g.43045760delCA003683BRCA1c.5509del (p.Val1837CysfsTer5)
c.5512del (p.Val1838CysfsTer5)
c.5386del (p.Val1796CysfsTer5)
c.5506del (p.Val1836CysfsTer5)
c.5434del (p.Val1812CysfsTer5)
c.2200del (p.Val734CysfsTer5)
c.2062del (p.Val688CysfsTer5)
c.4624del (p.Val1542CysfsTer5)
c.5389del (p.Val1797CysfsTer5)
c.5578del (p.Val1860CysfsTer5)
c.5371del (p.Val1791CysfsTer5)
c.2074del (p.Val692CysfsTer5)
n.1395del
n.876del
c.5575del (p.Val1859CysfsTer5)
c.1899del
c.2086del (p.Val696CysfsTer5)
c.*5295del (n.*5295del)
c.*26del (n.*26del)
c.442del (p.Val148CysfsTer5)
c.985del (p.Val329CysfsTer5)
c.211del (p.Val71CysfsTer5)
n.5648del
n.5689del
 ClinVar dbSNP
17g.43045758_43045772delinsCCCACTCTCGGGTCACA2260761104BRCA1c.5495_5509delinsTGACCCGAGAGTGGG (p.Val1832=)
c.5498_5512delinsTGACCCGAGAGTGGG (p.Val1833=)
c.5372_5386delinsTGACCCGAGAGTGGG (p.Val1791=)
c.5492_5506delinsTGACCCGAGAGTGGG (p.Val1831=)
c.5420_5434delinsTGACCCGAGAGTGGG (p.Val1807=)
c.2186_2200delinsTGACCCGAGAGTGGG (p.Val729=)
c.2048_2062delinsTGACCCGAGAGTGGG (p.Val683=)
c.4610_4624delinsTGACCCGAGAGTGGG (p.Val1537=)
c.5375_5389delinsTGACCCGAGAGTGGG (p.Val1792=)
c.5564_5578delinsTGACCCGAGAGTGGG (p.Val1855=)
c.5357_5371delinsTGACCCGAGAGTGGG (p.Val1786=)
c.2060_2074delinsTGACCCGAGAGTGGG (p.Val687=)
n.1381_1395delinsTGACCCGAGAGTGGG
n.862_876delinsTGACCCGAGAGTGGG
c.5561_5575delinsTGACCCGAGAGTGGG (p.Val1854=)
c.1885_1899delinsTGACCCGAGAGTGGG
c.2072_2086delinsTGACCCGAGAGTGGG (p.Val691=)
c.*5281_*5295delinsTGACCCGAGAGTGGG (n.*5281_*5295delinsTGACCCGAGAGTGGG)
c.*12_*26delinsTGACCCGAGAGTGGG (n.*12_*26delinsTGACCCGAGAGTGGG)
c.428_442delinsTGACCCGAGAGTGGG (p.Val143=)
c.971_985delinsTGACCCGAGAGTGGG (p.Val324=)
c.197_211delinsTGACCCGAGAGTGGG (p.Val66=)
n.5634_5648delinsTGACCCGAGAGTGGG
n.5675_5689delinsTGACCCGAGAGTGGG
17g.43045759C>ACA003686BRCA1c.5508G>T (p.Trp1836Cys)
c.5511G>T (p.Trp1837Cys)
c.5385G>T (p.Trp1795Cys)
c.5505G>T (p.Trp1835Cys)
c.5433G>T (p.Trp1811Cys)
c.2199G>T (p.Trp733Cys)
c.2061G>T (p.Trp687Cys)
c.4623G>T (p.Trp1541Cys)
c.5388G>T (p.Trp1796Cys)
c.5577G>T (p.Trp1859Cys)
c.5370G>T (p.Trp1790Cys)
c.2073G>T (p.Trp691Cys)
n.1394G>T
n.875G>T
c.5574G>T (p.Trp1858Cys)
c.1898G>T
c.2085G>T (p.Trp695Cys)
c.*5294G>T (n.*5294G>T)
c.*25G>T (n.*25G>T)
c.441G>T (p.Trp147Cys)
c.984G>T (p.Trp328Cys)
c.210G>T (p.Trp70Cys)
n.5647G>T
n.5688G>T
 ClinVar dbSNP
17g.43045759C=CA2260761106BRCA1c.5508G= (p.Trp1836=)
c.5511G= (p.Trp1837=)
c.5385G= (p.Trp1795=)
c.5505G= (p.Trp1835=)
c.5433G= (p.Trp1811=)
c.2199G= (p.Trp733=)
c.2061G= (p.Trp687=)
c.4623G= (p.Trp1541=)
c.5388G= (p.Trp1796=)
c.5577G= (p.Trp1859=)
c.5370G= (p.Trp1790=)
c.2073G= (p.Trp691=)
n.1394G=
n.875G=
c.5574G= (p.Trp1858=)
c.1898G=
c.2085G= (p.Trp695=)
c.*5294G= (n.*5294G=)
c.*25G= (n.*25G=)
c.441G= (p.Trp147=)
c.984G= (p.Trp328=)
c.210G= (p.Trp70=)
n.5647G=
n.5688G=
17g.43045759C>GCA10590294BRCA1c.5508G>C (p.Trp1836Cys)
c.5511G>C (p.Trp1837Cys)
c.5385G>C (p.Trp1795Cys)
c.5505G>C (p.Trp1835Cys)
c.5433G>C (p.Trp1811Cys)
c.2199G>C (p.Trp733Cys)
c.2061G>C (p.Trp687Cys)
c.4623G>C (p.Trp1541Cys)
c.5388G>C (p.Trp1796Cys)
c.5577G>C (p.Trp1859Cys)
c.5370G>C (p.Trp1790Cys)
c.2073G>C (p.Trp691Cys)
n.1394G>C
n.875G>C
c.5574G>C (p.Trp1858Cys)
c.1898G>C
c.2085G>C (p.Trp695Cys)
c.*5294G>C (n.*5294G>C)
c.*25G>C (n.*25G>C)
c.441G>C (p.Trp147Cys)
c.984G>C (p.Trp328Cys)
c.210G>C (p.Trp70Cys)
n.5647G>C
n.5688G>C
 ClinVar dbSNP gnomAD v4
17g.43045759C>TCA003685BRCA1c.5508G>A (p.Trp1836Ter)
c.5511G>A (p.Trp1837Ter)
c.5385G>A (p.Trp1795Ter)
c.5505G>A (p.Trp1835Ter)
c.5433G>A (p.Trp1811Ter)
c.2199G>A (p.Trp733Ter)
c.2061G>A (p.Trp687Ter)
c.4623G>A (p.Trp1541Ter)
c.5388G>A (p.Trp1796Ter)
c.5577G>A (p.Trp1859Ter)
c.5370G>A (p.Trp1790Ter)
c.2073G>A (p.Trp691Ter)
n.1394G>A
n.875G>A
c.5574G>A (p.Trp1858Ter)
c.1898G>A
c.2085G>A (p.Trp695Ter)
c.*5294G>A (n.*5294G>A)
c.*25G>A (n.*25G>A)
c.441G>A (p.Trp147Ter)
c.984G>A (p.Trp328Ter)
c.210G>A (p.Trp70Ter)
n.5647G>A
n.5688G>A
 ClinVar dbSNP
17g.43045759_43045760delinsAGCA2499224343BRCA1c.5507_5508delinsCT (p.Trp1836Ser)
c.5510_5511delinsCT (p.Trp1837Ser)
c.5384_5385delinsCT (p.Trp1795Ser)
c.5504_5505delinsCT (p.Trp1835Ser)
c.5432_5433delinsCT (p.Trp1811Ser)
c.2198_2199delinsCT (p.Trp733Ser)
c.2060_2061delinsCT (p.Trp687Ser)
c.4622_4623delinsCT (p.Trp1541Ser)
c.5387_5388delinsCT (p.Trp1796Ser)
c.5576_5577delinsCT (p.Trp1859Ser)
c.5369_5370delinsCT (p.Trp1790Ser)
c.2072_2073delinsCT (p.Trp691Ser)
n.1393_1394delinsCT
n.874_875delinsCT
c.5573_5574delinsCT (p.Trp1858Ser)
c.1897_1898delinsCT
c.2084_2085delinsCT (p.Trp695Ser)
c.*5293_*5294delinsCT (n.*5293_*5294delinsCT)
c.*24_*25delinsCT (n.*24_*25delinsCT)
c.440_441delinsCT (p.Trp147Ser)
c.983_984delinsCT (p.Trp328Ser)
c.209_210delinsCT (p.Trp70Ser)
n.5646_5647delinsCT
n.5687_5688delinsCT
 ClinVar dbSNP
17g.43045759_43045761delinsCCACA2260761108BRCA1c.5506_5508delinsTGG (p.Trp1836=)
c.5509_5511delinsTGG (p.Trp1837=)
c.5383_5385delinsTGG (p.Trp1795=)
c.5503_5505delinsTGG (p.Trp1835=)
c.5431_5433delinsTGG (p.Trp1811=)
c.2197_2199delinsTGG (p.Trp733=)
c.2059_2061delinsTGG (p.Trp687=)
c.4621_4623delinsTGG (p.Trp1541=)
c.5386_5388delinsTGG (p.Trp1796=)
c.5575_5577delinsTGG (p.Trp1859=)
c.5368_5370delinsTGG (p.Trp1790=)
c.2071_2073delinsTGG (p.Trp691=)
n.1392_1394delinsTGG
n.873_875delinsTGG
c.5572_5574delinsTGG (p.Trp1858=)
c.1896_1898delinsTGG
c.2083_2085delinsTGG (p.Trp695=)
c.*5292_*5294delinsTGG (n.*5292_*5294delinsTGG)
c.*23_*25delinsTGG (n.*23_*25delinsTGG)
c.439_441delinsTGG (p.Trp147=)
c.982_984delinsTGG (p.Trp328=)
c.208_210delinsTGG (p.Trp70=)
n.5645_5647delinsTGG
n.5686_5688delinsTGG
17g.43045763_43045776delCA003668BRCA1c.5495_5508del (p.Val1832GlyfsTer?)
c.5498_5511del (p.Val1833GlyfsTer?)
c.5372_5385del (p.Val1791GlyfsTer?)
c.5492_5505del (p.Val1831GlyfsTer?)
c.5420_5433del (p.Val1807GlyfsTer?)
c.2186_2199del (p.Val729GlyfsTer?)
c.2048_2061del (p.Val683GlyfsTer?)
c.4610_4623del (p.Val1537GlyfsTer?)
c.5375_5388del (p.Val1792GlyfsTer?)
c.5564_5577del (p.Val1855GlyfsTer?)
c.5357_5370del (p.Val1786GlyfsTer?)
c.2060_2073del (p.Val687GlyfsTer?)
n.1381_1394del
n.862_875del
c.5561_5574del (p.Val1854GlyfsTer?)
c.1885_1898del
c.2072_2085del (p.Val691GlyfsTer?)
c.*5281_*5294del (n.*5281_*5294del)
c.*12_*25del (n.*12_*25del)
c.428_441del (p.Val143GlyfsTer?)
c.971_984del (p.Val324GlyfsTer?)
c.197_210del (p.Val66GlyfsTer?)
n.5634_5647del
n.5675_5688del
 ClinVar dbSNP
17g.43045759_43045784delinsCCACTCTCGGGTCACCACAGGTGCCTCA2260761107BRCA1c.5483_5508delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1828=)
c.5486_5511delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1829=)
c.5360_5385delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1787=)
c.5480_5505delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1827=)
c.5408_5433delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1803=)
c.2174_2199delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu725=)
c.2036_2061delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu679=)
c.4598_4623delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1533=)
c.5363_5388delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1788=)
c.5552_5577delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1851=)
c.5345_5370delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1782=)
c.2048_2073delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu683=)
n.1369_1394delinsAGGCACCTGTGGTGACCCGAGAGTGG
n.850_875delinsAGGCACCTGTGGTGACCCGAGAGTGG
c.5549_5574delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu1850=)
c.1873_1898delinsAGGCACCTGTGGTGACCCGAGAGTGG
c.2060_2085delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu687=)
c.*5269_*5294delinsAGGCACCTGTGGTGACCCGAGAGTGG (n.*5269_*5294delinsAGGCACCTGTGGTGACCCGAGAGTGG)
c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG (n.[c.2100_*25delinsAGGCACCTGTGGTGACCCGAGAGTGG;Ter700=])
c.416_441delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu139=)
c.959_984delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu320=)
c.185_210delinsAGGCACCTGTGGTGACCCGAGAGTGG (p.Glu62=)
n.5622_5647delinsAGGCACCTGTGGTGACCCGAGAGTGG
n.5663_5688delinsAGGCACCTGTGGTGACCCGAGAGTGG
17g.43045760C>ACA10590295BRCA1c.5507G>T (p.Trp1836Leu)
c.5510G>T (p.Trp1837Leu)
c.5384G>T (p.Trp1795Leu)
c.5504G>T (p.Trp1835Leu)
c.5432G>T (p.Trp1811Leu)
c.2198G>T (p.Trp733Leu)
c.2060G>T (p.Trp687Leu)
c.4622G>T (p.Trp1541Leu)
c.5387G>T (p.Trp1796Leu)
c.5576G>T (p.Trp1859Leu)
c.5369G>T (p.Trp1790Leu)
c.2072G>T (p.Trp691Leu)
n.1393G>T
n.874G>T
c.5573G>T (p.Trp1858Leu)
c.1897G>T
c.2084G>T (p.Trp695Leu)
c.*5293G>T (n.*5293G>T)
c.*24G>T (n.*24G>T)
c.440G>T (p.Trp147Leu)
c.983G>T (p.Trp328Leu)
c.209G>T (p.Trp70Leu)
n.5646G>T
n.5687G>T
 ClinVar dbSNP
17g.43045760C=CA2260761109BRCA1c.5507G= (p.Trp1836=)
c.5510G= (p.Trp1837=)
c.5384G= (p.Trp1795=)
c.5504G= (p.Trp1835=)
c.5432G= (p.Trp1811=)
c.2198G= (p.Trp733=)
c.2060G= (p.Trp687=)
c.4622G= (p.Trp1541=)
c.5387G= (p.Trp1796=)
c.5576G= (p.Trp1859=)
c.5369G= (p.Trp1790=)
c.2072G= (p.Trp691=)
n.1393G=
n.874G=
c.5573G= (p.Trp1858=)
c.1897G=
c.2084G= (p.Trp695=)
c.*5293G= (n.*5293G=)
c.*24G= (n.*24G=)
c.440G= (p.Trp147=)
c.983G= (p.Trp328=)
c.209G= (p.Trp70=)
n.5646G=
n.5687G=
17g.43045760C>GCA10590296BRCA1c.5507G>C (p.Trp1836Ser)
c.5510G>C (p.Trp1837Ser)
c.5384G>C (p.Trp1795Ser)
c.5504G>C (p.Trp1835Ser)
c.5432G>C (p.Trp1811Ser)
c.2198G>C (p.Trp733Ser)
c.2060G>C (p.Trp687Ser)
c.4622G>C (p.Trp1541Ser)
c.5387G>C (p.Trp1796Ser)
c.5576G>C (p.Trp1859Ser)
c.5369G>C (p.Trp1790Ser)
c.2072G>C (p.Trp691Ser)
n.1393G>C
n.874G>C
c.5573G>C (p.Trp1858Ser)
c.1897G>C
c.2084G>C (p.Trp695Ser)
c.*5293G>C (n.*5293G>C)
c.*24G>C (n.*24G>C)
c.440G>C (p.Trp147Ser)
c.983G>C (p.Trp328Ser)
c.209G>C (p.Trp70Ser)
n.5646G>C
n.5687G>C
 ClinVar dbSNP
17g.43045760C>TCA003684BRCA1c.5507G>A (p.Trp1836Ter)
c.5510G>A (p.Trp1837Ter)
c.5384G>A (p.Trp1795Ter)
c.5504G>A (p.Trp1835Ter)
c.5432G>A (p.Trp1811Ter)
c.2198G>A (p.Trp733Ter)
c.2060G>A (p.Trp687Ter)
c.4622G>A (p.Trp1541Ter)
c.5387G>A (p.Trp1796Ter)
c.5576G>A (p.Trp1859Ter)
c.5369G>A (p.Trp1790Ter)
c.2072G>A (p.Trp691Ter)
n.1393G>A
n.874G>A
c.5573G>A (p.Trp1858Ter)
c.1897G>A
c.2084G>A (p.Trp695Ter)
c.*5293G>A (n.*5293G>A)
c.*24G>A (n.*24G>A)
c.440G>A (p.Trp147Ter)
c.983G>A (p.Trp328Ter)
c.209G>A (p.Trp70Ter)
n.5646G>A
n.5687G>A
 ClinVar dbSNP
17g.43045761_43045762delCA645373148BRCA1c.5506_5507del (p.Trp1836GlyfsTer?)
c.5509_5510del (p.Trp1837GlyfsTer?)
c.5383_5384del (p.Trp1795GlyfsTer?)
c.5503_5504del (p.Trp1835GlyfsTer?)
c.5431_5432del (p.Trp1811GlyfsTer?)
c.2197_2198del (p.Trp733GlyfsTer?)
c.2059_2060del (p.Trp687GlyfsTer?)
c.4621_4622del (p.Trp1541GlyfsTer?)
c.5386_5387del (p.Trp1796GlyfsTer?)
c.5575_5576del (p.Trp1859GlyfsTer?)
c.5368_5369del (p.Trp1790GlyfsTer?)
c.2071_2072del (p.Trp691GlyfsTer?)
n.1392_1393del
n.873_874del
c.5572_5573del (p.Trp1858GlyfsTer?)
c.1896_1897del
c.2083_2084del (p.Trp695GlyfsTer?)
c.*5292_*5293del (n.*5292_*5293del)
c.*23_*24del (n.*23_*24del)
c.439_440del (p.Trp147GlyfsTer?)
c.982_983del (p.Trp328GlyfsTer?)
c.208_209del (p.Trp70GlyfsTer?)
n.5645_5646del
n.5686_5687del
 ClinVar dbSNP
17g.43045763_43045787delCA10589586BRCA1c.5483_5507del (p.Glu1828GlyfsTer6)
c.5486_5510del (p.Glu1829GlyfsTer6)
c.5360_5384del (p.Glu1787GlyfsTer6)
c.5480_5504del (p.Glu1827GlyfsTer6)
c.5408_5432del (p.Glu1803GlyfsTer6)
c.2174_2198del (p.Glu725GlyfsTer6)
c.2036_2060del (p.Glu679GlyfsTer6)
c.4598_4622del (p.Glu1533GlyfsTer6)
c.5363_5387del (p.Glu1788GlyfsTer6)
c.5552_5576del (p.Glu1851GlyfsTer6)
c.5345_5369del (p.Glu1782GlyfsTer6)
c.2048_2072del (p.Glu683GlyfsTer6)
n.1369_1393del
n.850_874del
c.5549_5573del (p.Glu1850GlyfsTer6)
c.1873_1897del
c.2060_2084del (p.Glu687GlyfsTer6)
c.*5269_*5293del (n.*5269_*5293del)
c.2100_*24del (n.[c.2100_*24del;Ter700TrpextTer28])
c.416_440del (p.Glu139GlyfsTer6)
c.959_983del (p.Glu320GlyfsTer6)
c.185_209del (p.Glu62GlyfsTer6)
n.5622_5646del
n.5663_5687del
 ClinVar dbSNP
17g.43045761A=CA2260761110BRCA1c.5506T= (p.Trp1836=)
c.5509T= (p.Trp1837=)
c.5383T= (p.Trp1795=)
c.5503T= (p.Trp1835=)
c.5431T= (p.Trp1811=)
c.2197T= (p.Trp733=)
c.2059T= (p.Trp687=)
c.4621T= (p.Trp1541=)
c.5386T= (p.Trp1796=)
c.5575T= (p.Trp1859=)
c.5368T= (p.Trp1790=)
c.2071T= (p.Trp691=)
n.1392T=
n.873T=
c.5572T= (p.Trp1858=)
c.1896T=
c.2083T= (p.Trp695=)
c.*5292T= (n.*5292T=)
c.*23T= (n.*23T=)
c.439T= (p.Trp147=)
c.982T= (p.Trp328=)
c.208T= (p.Trp70=)
n.5645T=
n.5686T=
17g.43045761A>CCA003681BRCA1c.5506T>G (p.Trp1836Gly)
c.5509T>G (p.Trp1837Gly)
c.5383T>G (p.Trp1795Gly)
c.5503T>G (p.Trp1835Gly)
c.5431T>G (p.Trp1811Gly)
c.2197T>G (p.Trp733Gly)
c.2059T>G (p.Trp687Gly)
c.4621T>G (p.Trp1541Gly)
c.5386T>G (p.Trp1796Gly)
c.5575T>G (p.Trp1859Gly)
c.5368T>G (p.Trp1790Gly)
c.2071T>G (p.Trp691Gly)
n.1392T>G
n.873T>G
c.5572T>G (p.Trp1858Gly)
c.1896T>G
c.2083T>G (p.Trp695Gly)
c.*5292T>G (n.*5292T>G)
c.*23T>G (n.*23T>G)
c.439T>G (p.Trp147Gly)
c.982T>G (p.Trp328Gly)
c.208T>G (p.Trp70Gly)
n.5645T>G
n.5686T>G
 ClinVar dbSNP
17g.43045761A>GCA003680BRCA1c.5506T>C (p.Trp1836Arg)
c.5509T>C (p.Trp1837Arg)
c.5383T>C (p.Trp1795Arg)
c.5503T>C (p.Trp1835Arg)
c.5431T>C (p.Trp1811Arg)
c.2197T>C (p.Trp733Arg)
c.2059T>C (p.Trp687Arg)
c.4621T>C (p.Trp1541Arg)
c.5386T>C (p.Trp1796Arg)
c.5575T>C (p.Trp1859Arg)
c.5368T>C (p.Trp1790Arg)
c.2071T>C (p.Trp691Arg)
n.1392T>C
n.873T>C
c.5572T>C (p.Trp1858Arg)
c.1896T>C
c.2083T>C (p.Trp695Arg)
c.*5292T>C (n.*5292T>C)
c.*23T>C (n.*23T>C)
c.439T>C (p.Trp147Arg)
c.982T>C (p.Trp328Arg)
c.208T>C (p.Trp70Arg)
n.5645T>C
n.5686T>C
 ClinVar dbSNP gnomAD v4
17g.43045761A>TCA10590297BRCA1c.5506T>A (p.Trp1836Arg)
c.5509T>A (p.Trp1837Arg)
c.5383T>A (p.Trp1795Arg)
c.5503T>A (p.Trp1835Arg)
c.5431T>A (p.Trp1811Arg)
c.2197T>A (p.Trp733Arg)
c.2059T>A (p.Trp687Arg)
c.4621T>A (p.Trp1541Arg)
c.5386T>A (p.Trp1796Arg)
c.5575T>A (p.Trp1859Arg)
c.5368T>A (p.Trp1790Arg)
c.2071T>A (p.Trp691Arg)
n.1392T>A
n.873T>A
c.5572T>A (p.Trp1858Arg)
c.1896T>A
c.2083T>A (p.Trp695Arg)
c.*5292T>A (n.*5292T>A)
c.*23T>A (n.*23T>A)
c.439T>A (p.Trp147Arg)
c.982T>A (p.Trp328Arg)
c.208T>A (p.Trp70Arg)
n.5645T>A
n.5686T>A
 ClinVar dbSNP
17g.43045762C>ACA10590298BRCA1c.5505G>T (p.Glu1835Asp)
c.5508G>T (p.Glu1836Asp)
c.5382G>T (p.Glu1794Asp)
c.5502G>T (p.Glu1834Asp)
c.5430G>T (p.Glu1810Asp)
c.2196G>T (p.Glu732Asp)
c.2058G>T (p.Glu686Asp)
c.4620G>T (p.Glu1540Asp)
c.5385G>T (p.Glu1795Asp)
c.5574G>T (p.Glu1858Asp)
c.5367G>T (p.Glu1789Asp)
c.2070G>T (p.Glu690Asp)
n.1391G>T
n.872G>T
c.5571G>T (p.Glu1857Asp)
c.1895G>T
c.2082G>T (p.Glu694Asp)
c.*5291G>T (n.*5291G>T)
c.*22G>T (n.*22G>T)
c.438G>T (p.Glu146Asp)
c.981G>T (p.Glu327Asp)
c.207G>T (p.Glu69Asp)
n.5644G>T
n.5685G>T
 ClinVar dbSNP
17g.43045762C=CA2260761111BRCA1c.5505G= (p.Glu1835=)
c.5508G= (p.Glu1836=)
c.5382G= (p.Glu1794=)
c.5502G= (p.Glu1834=)
c.5430G= (p.Glu1810=)
c.2196G= (p.Glu732=)
c.2058G= (p.Glu686=)
c.4620G= (p.Glu1540=)
c.5385G= (p.Glu1795=)
c.5574G= (p.Glu1858=)
c.5367G= (p.Glu1789=)
c.2070G= (p.Glu690=)
n.1391G=
n.872G=
c.5571G= (p.Glu1857=)
c.1895G=
c.2082G= (p.Glu694=)
c.*5291G= (n.*5291G=)
c.*22G= (n.*22G=)
c.438G= (p.Glu146=)
c.981G= (p.Glu327=)
c.207G= (p.Glu69=)
n.5644G=
n.5685G=
17g.43045762C>GCA10590299BRCA1c.5505G>C (p.Glu1835Asp)
c.5508G>C (p.Glu1836Asp)
c.5382G>C (p.Glu1794Asp)
c.5502G>C (p.Glu1834Asp)
c.5430G>C (p.Glu1810Asp)
c.2196G>C (p.Glu732Asp)
c.2058G>C (p.Glu686Asp)
c.4620G>C (p.Glu1540Asp)
c.5385G>C (p.Glu1795Asp)
c.5574G>C (p.Glu1858Asp)
c.5367G>C (p.Glu1789Asp)
c.2070G>C (p.Glu690Asp)
n.1391G>C
n.872G>C
c.5571G>C (p.Glu1857Asp)
c.1895G>C
c.2082G>C (p.Glu694Asp)
c.*5291G>C (n.*5291G>C)
c.*22G>C (n.*22G>C)
c.438G>C (p.Glu146Asp)
c.981G>C (p.Glu327Asp)
c.207G>C (p.Glu69Asp)
n.5644G>C
n.5685G>C
 ClinVar dbSNP
17g.43045762C>TCA500142908BRCA1c.5505G>A (p.Glu1835=)
c.5508G>A (p.Glu1836=)
c.5382G>A (p.Glu1794=)
c.5502G>A (p.Glu1834=)
c.5430G>A (p.Glu1810=)
c.2196G>A (p.Glu732=)
c.2058G>A (p.Glu686=)
c.4620G>A (p.Glu1540=)
c.5385G>A (p.Glu1795=)
c.5574G>A (p.Glu1858=)
c.5367G>A (p.Glu1789=)
c.2070G>A (p.Glu690=)
n.1391G>A
n.872G>A
c.5571G>A (p.Glu1857=)
c.1895G>A
c.2082G>A (p.Glu694=)
c.*5291G>A (n.*5291G>A)
c.*22G>A (n.*22G>A)
c.438G>A (p.Glu146=)
c.981G>A (p.Glu327=)
c.207G>A (p.Glu69=)
n.5644G>A
n.5685G>A
 ClinVar dbSNP
17g.43045765_43045766delCA2695226104BRCA1c.5504_5505del (p.Glu1835ValfsTer?)
c.5507_5508del (p.Glu1836ValfsTer?)
c.5381_5382del (p.Glu1794ValfsTer?)
c.5501_5502del (p.Glu1834ValfsTer?)
c.5429_5430del (p.Glu1810ValfsTer?)
c.2195_2196del (p.Glu732ValfsTer?)
c.2057_2058del (p.Glu686ValfsTer?)
c.4619_4620del (p.Glu1540ValfsTer?)
c.5384_5385del (p.Glu1795ValfsTer?)
c.5573_5574del (p.Glu1858ValfsTer?)
c.5366_5367del (p.Glu1789ValfsTer?)
c.2069_2070del (p.Glu690ValfsTer?)
n.1390_1391del
n.871_872del
c.5570_5571del (p.Glu1857ValfsTer?)
c.1894_1895del
c.2081_2082del (p.Glu694ValfsTer?)
c.*5290_*5291del (n.*5290_*5291del)
c.*21_*22del (n.*21_*22del)
c.437_438del (p.Glu146ValfsTer?)
c.980_981del (p.Glu327ValfsTer?)
c.206_207del (p.Glu69ValfsTer?)
n.5643_5644del
n.5684_5685del
17g.43045763T>ACA10590300BRCA1c.5504A>T (p.Glu1835Val)
c.5507A>T (p.Glu1836Val)
c.5381A>T (p.Glu1794Val)
c.5501A>T (p.Glu1834Val)
c.5429A>T (p.Glu1810Val)
c.2195A>T (p.Glu732Val)
c.2057A>T (p.Glu686Val)
c.4619A>T (p.Glu1540Val)
c.5384A>T (p.Glu1795Val)
c.5573A>T (p.Glu1858Val)
c.5366A>T (p.Glu1789Val)
c.2069A>T (p.Glu690Val)
n.1390A>T
n.871A>T
c.5570A>T (p.Glu1857Val)
c.1894A>T
c.2081A>T (p.Glu694Val)
c.*5290A>T (n.*5290A>T)
c.*21A>T (n.*21A>T)
c.437A>T (p.Glu146Val)
c.980A>T (p.Glu327Val)
c.206A>T (p.Glu69Val)
n.5643A>T
n.5684A>T
 ClinVar dbSNP
17g.43045763T>CCA10590301BRCA1c.5504A>G (p.Glu1835Gly)
c.5507A>G (p.Glu1836Gly)
c.5381A>G (p.Glu1794Gly)
c.5501A>G (p.Glu1834Gly)
c.5429A>G (p.Glu1810Gly)
c.2195A>G (p.Glu732Gly)
c.2057A>G (p.Glu686Gly)
c.4619A>G (p.Glu1540Gly)
c.5384A>G (p.Glu1795Gly)
c.5573A>G (p.Glu1858Gly)
c.5366A>G (p.Glu1789Gly)
c.2069A>G (p.Glu690Gly)
n.1390A>G
n.871A>G
c.5570A>G (p.Glu1857Gly)
c.1894A>G
c.2081A>G (p.Glu694Gly)
c.*5290A>G (n.*5290A>G)
c.*21A>G (n.*21A>G)
c.437A>G (p.Glu146Gly)
c.980A>G (p.Glu327Gly)
c.206A>G (p.Glu69Gly)
n.5643A>G
n.5684A>G
 ClinVar dbSNP
17g.43045763T>GCA10590302BRCA1c.5504A>C (p.Glu1835Ala)
c.5507A>C (p.Glu1836Ala)
c.5381A>C (p.Glu1794Ala)
c.5501A>C (p.Glu1834Ala)
c.5429A>C (p.Glu1810Ala)
c.2195A>C (p.Glu732Ala)
c.2057A>C (p.Glu686Ala)
c.4619A>C (p.Glu1540Ala)
c.5384A>C (p.Glu1795Ala)
c.5573A>C (p.Glu1858Ala)
c.5366A>C (p.Glu1789Ala)
c.2069A>C (p.Glu690Ala)
n.1390A>C
n.871A>C
c.5570A>C (p.Glu1857Ala)
c.1894A>C
c.2081A>C (p.Glu694Ala)
c.*5290A>C (n.*5290A>C)
c.*21A>C (n.*21A>C)
c.437A>C (p.Glu146Ala)
c.980A>C (p.Glu327Ala)
c.206A>C (p.Glu69Ala)
n.5643A>C
n.5684A>C
 ClinVar dbSNP
17g.43045763T=CA2260761112BRCA1c.5504A= (p.Glu1835=)
c.5507A= (p.Glu1836=)
c.5381A= (p.Glu1794=)
c.5501A= (p.Glu1834=)
c.5429A= (p.Glu1810=)
c.2195A= (p.Glu732=)
c.2057A= (p.Glu686=)
c.4619A= (p.Glu1540=)
c.5384A= (p.Glu1795=)
c.5573A= (p.Glu1858=)
c.5366A= (p.Glu1789=)
c.2069A= (p.Glu690=)
n.1390A=
n.871A=
c.5570A= (p.Glu1857=)
c.1894A=
c.2081A= (p.Glu694=)
c.*5290A= (n.*5290A=)
c.*21A= (n.*21A=)
c.437A= (p.Glu146=)
c.980A= (p.Glu327=)
c.206A= (p.Glu69=)
n.5643A=
n.5684A=
17g.43045763_43045767delinsTCTCGCA2260761113BRCA1c.5500_5504delinsCGAGA (p.Arg1834=)
c.5503_5507delinsCGAGA (p.Arg1835=)
c.5377_5381delinsCGAGA (p.Arg1793=)
c.5497_5501delinsCGAGA (p.Arg1833=)
c.5425_5429delinsCGAGA (p.Arg1809=)
c.2191_2195delinsCGAGA (p.Arg731=)
c.2053_2057delinsCGAGA (p.Arg685=)
c.4615_4619delinsCGAGA (p.Arg1539=)
c.5380_5384delinsCGAGA (p.Arg1794=)
c.5569_5573delinsCGAGA (p.Arg1857=)
c.5362_5366delinsCGAGA (p.Arg1788=)
c.2065_2069delinsCGAGA (p.Arg689=)
n.1386_1390delinsCGAGA
n.867_871delinsCGAGA
c.5566_5570delinsCGAGA (p.Arg1856=)
c.1890_1894delinsCGAGA
c.2077_2081delinsCGAGA (p.Arg693=)
c.*5286_*5290delinsCGAGA (n.*5286_*5290delinsCGAGA)
c.*17_*21delinsCGAGA (n.*17_*21delinsCGAGA)
c.433_437delinsCGAGA (p.Arg145=)
c.976_980delinsCGAGA (p.Arg326=)
c.202_206delinsCGAGA (p.Arg68=)
n.5639_5643delinsCGAGA
n.5680_5684delinsCGAGA
17g.43045763_43045774delinsTCTCGGGTCACCCA2260761114BRCA1c.5493_5504delinsGGTGACCCGAGA (p.Val1831=)
c.5496_5507delinsGGTGACCCGAGA (p.Val1832=)
c.5370_5381delinsGGTGACCCGAGA (p.Val1790=)
c.5490_5501delinsGGTGACCCGAGA (p.Val1830=)
c.5418_5429delinsGGTGACCCGAGA (p.Val1806=)
c.2184_2195delinsGGTGACCCGAGA (p.Val728=)
c.2046_2057delinsGGTGACCCGAGA (p.Val682=)
c.4608_4619delinsGGTGACCCGAGA (p.Val1536=)
c.5373_5384delinsGGTGACCCGAGA (p.Val1791=)
c.5562_5573delinsGGTGACCCGAGA (p.Val1854=)
c.5355_5366delinsGGTGACCCGAGA (p.Val1785=)
c.2058_2069delinsGGTGACCCGAGA (p.Val686=)
n.1379_1390delinsGGTGACCCGAGA
n.860_871delinsGGTGACCCGAGA
c.5559_5570delinsGGTGACCCGAGA (p.Val1853=)
c.1883_1894delinsGGTGACCCGAGA
c.2070_2081delinsGGTGACCCGAGA (p.Val690=)
c.*5279_*5290delinsGGTGACCCGAGA (n.*5279_*5290delinsGGTGACCCGAGA)
c.*10_*21delinsGGTGACCCGAGA (n.*10_*21delinsGGTGACCCGAGA)
c.426_437delinsGGTGACCCGAGA (p.Val142=)
c.969_980delinsGGTGACCCGAGA (p.Val323=)
c.195_206delinsGGTGACCCGAGA (p.Val65=)
n.5632_5643delinsGGTGACCCGAGA
n.5673_5684delinsGGTGACCCGAGA
17g.43045764delCA2499224344BRCA1c.5503del (p.Glu1835SerfsTer7)
c.5506del (p.Glu1836SerfsTer7)
c.5380del (p.Glu1794SerfsTer7)
c.5500del (p.Glu1834SerfsTer7)
c.5428del (p.Glu1810SerfsTer7)
c.2194del (p.Glu732SerfsTer7)
c.2056del (p.Glu686SerfsTer7)
c.4618del (p.Glu1540SerfsTer7)
c.5383del (p.Glu1795SerfsTer7)
c.5572del (p.Glu1858SerfsTer7)
c.5365del (p.Glu1789SerfsTer7)
c.2068del (p.Glu690SerfsTer7)
n.1389del
n.870del
c.5569del (p.Glu1857SerfsTer7)
c.1893del
c.2080del (p.Glu694SerfsTer7)
c.*5289del (n.*5289del)
c.*20del (n.*20del)
c.436del (p.Glu146SerfsTer7)
c.979del (p.Glu327SerfsTer7)
c.205del (p.Glu69SerfsTer7)
n.5642del
n.5683del
17g.43045764C>ACA003679BRCA1c.5503G>T (p.Glu1835Ter)
c.5506G>T (p.Glu1836Ter)
c.5380G>T (p.Glu1794Ter)
c.5500G>T (p.Glu1834Ter)
c.5428G>T (p.Glu1810Ter)
c.2194G>T (p.Glu732Ter)
c.2056G>T (p.Glu686Ter)
c.4618G>T (p.Glu1540Ter)
c.5383G>T (p.Glu1795Ter)
c.5572G>T (p.Glu1858Ter)
c.5365G>T (p.Glu1789Ter)
c.2068G>T (p.Glu690Ter)
n.1389G>T
n.870G>T
c.5569G>T (p.Glu1857Ter)
c.1893G>T
c.2080G>T (p.Glu694Ter)
c.*5289G>T (n.*5289G>T)
c.*20G>T (n.*20G>T)
c.436G>T (p.Glu146Ter)
c.979G>T (p.Glu327Ter)
c.205G>T (p.Glu69Ter)
n.5642G>T
n.5683G>T
 ClinVar dbSNP
17g.43045764C=CA2260761115BRCA1c.5503G= (p.Glu1835=)
c.5506G= (p.Glu1836=)
c.5380G= (p.Glu1794=)
c.5500G= (p.Glu1834=)
c.5428G= (p.Glu1810=)
c.2194G= (p.Glu732=)
c.2056G= (p.Glu686=)
c.4618G= (p.Glu1540=)
c.5383G= (p.Glu1795=)
c.5572G= (p.Glu1858=)
c.5365G= (p.Glu1789=)
c.2068G= (p.Glu690=)
n.1389G=
n.870G=
c.5569G= (p.Glu1857=)
c.1893G=
c.2080G= (p.Glu694=)
c.*5289G= (n.*5289G=)
c.*20G= (n.*20G=)
c.436G= (p.Glu146=)
c.979G= (p.Glu327=)
c.205G= (p.Glu69=)
n.5642G=
n.5683G=
17g.43045764C>GCA10590303BRCA1c.5503G>C (p.Glu1835Gln)
c.5506G>C (p.Glu1836Gln)
c.5380G>C (p.Glu1794Gln)
c.5500G>C (p.Glu1834Gln)
c.5428G>C (p.Glu1810Gln)
c.2194G>C (p.Glu732Gln)
c.2056G>C (p.Glu686Gln)
c.4618G>C (p.Glu1540Gln)
c.5383G>C (p.Glu1795Gln)
c.5572G>C (p.Glu1858Gln)
c.5365G>C (p.Glu1789Gln)
c.2068G>C (p.Glu690Gln)
n.1389G>C
n.870G>C
c.5569G>C (p.Glu1857Gln)
c.1893G>C
c.2080G>C (p.Glu694Gln)
c.*5289G>C (n.*5289G>C)
c.*20G>C (n.*20G>C)
c.436G>C (p.Glu146Gln)
c.979G>C (p.Glu327Gln)
c.205G>C (p.Glu69Gln)
n.5642G>C
n.5683G>C
 ClinVar dbSNP
17g.43045764C>TCA003678BRCA1c.5503G>A (p.Glu1835Lys)
c.5506G>A (p.Glu1836Lys)
c.5380G>A (p.Glu1794Lys)
c.5500G>A (p.Glu1834Lys)
c.5428G>A (p.Glu1810Lys)
c.2194G>A (p.Glu732Lys)
c.2056G>A (p.Glu686Lys)
c.4618G>A (p.Glu1540Lys)
c.5383G>A (p.Glu1795Lys)
c.5572G>A (p.Glu1858Lys)
c.5365G>A (p.Glu1789Lys)
c.2068G>A (p.Glu690Lys)
n.1389G>A
n.870G>A
c.5569G>A (p.Glu1857Lys)
c.1893G>A
c.2080G>A (p.Glu694Lys)
c.*5289G>A (n.*5289G>A)
c.*20G>A (n.*20G>A)
c.436G>A (p.Glu146Lys)
c.979G>A (p.Glu327Lys)
c.205G>A (p.Glu69Lys)
n.5642G>A
n.5683G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.43045764_43045767delCA10589587BRCA1c.5500_5503del (p.Arg1834SerfsTer7)
c.5503_5506del (p.Arg1835SerfsTer7)
c.5377_5380del (p.Arg1793SerfsTer7)
c.5497_5500del (p.Arg1833SerfsTer7)
c.5425_5428del (p.Arg1809SerfsTer7)
c.2191_2194del (p.Arg731SerfsTer7)
c.2053_2056del (p.Arg685SerfsTer7)
c.4615_4618del (p.Arg1539SerfsTer7)
c.5380_5383del (p.Arg1794SerfsTer7)
c.5569_5572del (p.Arg1857SerfsTer7)
c.5362_5365del (p.Arg1788SerfsTer7)
c.2065_2068del (p.Arg689SerfsTer7)
n.1386_1389del
n.867_870del
c.5566_5569del (p.Arg1856SerfsTer7)
c.1890_1893del
c.2077_2080del (p.Arg693SerfsTer7)
c.*5286_*5289del (n.*5286_*5289del)
c.*17_*20del (n.*17_*20del)
c.433_436del (p.Arg145SerfsTer7)
c.976_979del (p.Arg326SerfsTer7)
c.202_205del (p.Arg68SerfsTer7)
n.5639_5642del
n.5680_5683del
 ClinVar dbSNP
17g.43045764_43045774delinsTCA003665BRCA1c.5493_5503delinsA (p.Val1832SerfsTer7)
c.5496_5506delinsA (p.Val1833SerfsTer7)
c.5370_5380delinsA (p.Val1791SerfsTer7)
c.5490_5500delinsA (p.Val1831SerfsTer7)
c.5418_5428delinsA (p.Val1807SerfsTer7)
c.2184_2194delinsA (p.Val729SerfsTer7)
c.2046_2056delinsA (p.Val683SerfsTer7)
c.4608_4618delinsA (p.Val1537SerfsTer7)
c.5373_5383delinsA (p.Val1792SerfsTer7)
c.5562_5572delinsA (p.Val1855SerfsTer7)
c.5355_5365delinsA (p.Val1786SerfsTer7)
c.2058_2068delinsA (p.Val687SerfsTer7)
n.1379_1389delinsA
n.860_870delinsA
c.5559_5569delinsA (p.Val1854SerfsTer7)
c.1883_1893delinsA
c.2070_2080delinsA (p.Val691SerfsTer7)
c.*5279_*5289delinsA (n.*5279_*5289delinsA)
c.*10_*20delinsA (n.*10_*20delinsA)
c.426_436delinsA (p.Val143SerfsTer7)
c.969_979delinsA (p.Val324SerfsTer7)
c.195_205delinsA (p.Val66SerfsTer7)
n.5632_5642delinsA
n.5673_5683delinsA
 ClinVar dbSNP
17g.43045765_43045774delCA003666BRCA1c.5494_5503del (p.Val1832SerfsTer7)
c.5497_5506del (p.Val1833SerfsTer7)
c.5371_5380del (p.Val1791SerfsTer7)
c.5491_5500del (p.Val1831SerfsTer7)
c.5419_5428del (p.Val1807SerfsTer7)
c.2185_2194del (p.Val729SerfsTer7)
c.2047_2056del (p.Val683SerfsTer7)
c.4609_4618del (p.Val1537SerfsTer7)
c.5374_5383del (p.Val1792SerfsTer7)
c.5563_5572del (p.Val1855SerfsTer7)
c.5356_5365del (p.Val1786SerfsTer7)
c.2059_2068del (p.Val687SerfsTer7)
n.1380_1389del
n.861_870del
c.5560_5569del (p.Val1854SerfsTer7)
c.1884_1893del
c.2071_2080del (p.Val691SerfsTer7)
c.*5280_*5289del (n.*5280_*5289del)
c.*11_*20del (n.*11_*20del)
c.427_436del (p.Val143SerfsTer7)
c.970_979del (p.Val324SerfsTer7)
c.196_205del (p.Val66SerfsTer7)
n.5633_5642del
n.5674_5683del
 ClinVar dbSNP
17g.43045765T>ACA500142909BRCA1c.5502A>T (p.Arg1834=)
c.5505A>T (p.Arg1835=)
c.5379A>T (p.Arg1793=)
c.5499A>T (p.Arg1833=)
c.5427A>T (p.Arg1809=)
c.2193A>T (p.Arg731=)
c.2055A>T (p.Arg685=)
c.4617A>T (p.Arg1539=)
c.5382A>T (p.Arg1794=)
c.5571A>T (p.Arg1857=)
c.5364A>T (p.Arg1788=)
c.2067A>T (p.Arg689=)
n.1388A>T
n.869A>T
c.5568A>T (p.Arg1856=)
c.1892A>T
c.2079A>T (p.Arg693=)
c.*5288A>T (n.*5288A>T)
c.*19A>T (n.*19A>T)
c.435A>T (p.Arg145=)
c.978A>T (p.Arg326=)
c.204A>T (p.Arg68=)
n.5641A>T
n.5682A>T
 ClinVar dbSNP
17g.43045765T>CCA500142910BRCA1c.5502A>G (p.Arg1834=)
c.5505A>G (p.Arg1835=)
c.5379A>G (p.Arg1793=)
c.5499A>G (p.Arg1833=)
c.5427A>G (p.Arg1809=)
c.2193A>G (p.Arg731=)
c.2055A>G (p.Arg685=)
c.4617A>G (p.Arg1539=)
c.5382A>G (p.Arg1794=)
c.5571A>G (p.Arg1857=)
c.5364A>G (p.Arg1788=)
c.2067A>G (p.Arg689=)
n.1388A>G
n.869A>G
c.5568A>G (p.Arg1856=)
c.1892A>G
c.2079A>G (p.Arg693=)
c.*5288A>G (n.*5288A>G)
c.*19A>G (n.*19A>G)
c.435A>G (p.Arg145=)
c.978A>G (p.Arg326=)
c.204A>G (p.Arg68=)
n.5641A>G
n.5682A>G
 ClinVar dbSNP
17g.43045765T>GCA500142911BRCA1c.5502A>C (p.Arg1834=)
c.5505A>C (p.Arg1835=)
c.5379A>C (p.Arg1793=)
c.5499A>C (p.Arg1833=)
c.5427A>C (p.Arg1809=)
c.2193A>C (p.Arg731=)
c.2055A>C (p.Arg685=)
c.4617A>C (p.Arg1539=)
c.5382A>C (p.Arg1794=)
c.5571A>C (p.Arg1857=)
c.5364A>C (p.Arg1788=)
c.2067A>C (p.Arg689=)
n.1388A>C
n.869A>C
c.5568A>C (p.Arg1856=)
c.1892A>C
c.2079A>C (p.Arg693=)
c.*5288A>C (n.*5288A>C)
c.*19A>C (n.*19A>C)
c.435A>C (p.Arg145=)
c.978A>C (p.Arg326=)
c.204A>C (p.Arg68=)
n.5641A>C
n.5682A>C
 ClinVar dbSNP gnomAD v4
17g.43045765T=CA2260761116BRCA1c.5502A= (p.Arg1834=)
c.5505A= (p.Arg1835=)
c.5379A= (p.Arg1793=)
c.5499A= (p.Arg1833=)
c.5427A= (p.Arg1809=)
c.2193A= (p.Arg731=)
c.2055A= (p.Arg685=)
c.4617A= (p.Arg1539=)
c.5382A= (p.Arg1794=)
c.5571A= (p.Arg1857=)
c.5364A= (p.Arg1788=)
c.2067A= (p.Arg689=)
n.1388A=
n.869A=
c.5568A= (p.Arg1856=)
c.1892A=
c.2079A= (p.Arg693=)
c.*5288A= (n.*5288A=)
c.*19A= (n.*19A=)
c.435A= (p.Arg145=)
c.978A= (p.Arg326=)
c.204A= (p.Arg68=)
n.5641A=
n.5682A=

Number of alleles fetched