Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43041660_43046086delinsCTGTG | CA2580093779 | ClinVar | ||
17 | g.43041662_43046087delinsTG | CA16043342 | ClinVar | ||
17 | g.43044295_43045802del | CA915950020 | ClinVar | ||
17 | g.43044924_43051621del | CA2580093785 | BRCA1 | c.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 |
17 | g.43045012_43053090del | CA2843744560 | BRCA1 | c.5275-1970_*669del c.5278-1970_*669del c.5152-1970_*669del c.5272-1970_*669del c.5200-1970_*669del c.1966-1970_*669del c.1828-1970_*669del c.4390-1970_*669del c.5155-1970_*669del c.5137-1970_*669del c.5341-1970_*669del c.1852-1970_*669del c.1966-1970_*775del n.5414-1970_6397del n.5455-1970_6438del | |
17 | g.43045093_43046211del | CA2697559962 | BRCA1 | c.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 |
17 | g.43045329_43045805del | CA2581463415 | BRCA1 | c.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 | |
17 | g.43045658_43051137del | CA915940399 | BRCA1 | c.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 | |
17 | g.43045671_43045690del | CA2733916003 | BRCA1 | c.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 |
17 | g.43045669_43045682del | CA2499306739 | BRCA1 | c.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 | |
17 | g.43045676_43045803del | CA2499224337 | BRCA1 | c.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 |
17 | g.43045676_43045691del | CA2580093786 | BRCA1 | c.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 |
17 | g.43045676_43045993del | CA2499224338 | BRCA1 | c.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 |
17 | g.43045677_43051117del | CA2832429629 | BRCA1 | c.5275_*1del c.5278_*1del c.5152_*1del c.5272_*1del c.5200_*1del c.1966_*1del c.1828_*1del c.4390_*1del c.5155_*1del c.5344_*1del c.5137_*1del c.1840_*1del c.5341_*1del c.1665_1980del c.1852_*1del c.1966_*107del c.208_*1del c.751_*1del c.-98-927_*1del n.5414_5729del n.5455_5770del | |
17 | g.43045678_43047703del | CA2581463416 | BRCA1 | c.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 | |
17 | g.43045678_43051117del | CA2581463401 | BRCA1 | c.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 | |
17 | g.43045680A>C | CA10590143 | BRCA1 | c.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 | |
17 | g.43045680A>G | CA10590144 | BRCA1 | c.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 | |
17 | g.43045680A>T | CA10590145 | BRCA1 | c.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 |
17 | g.43045681G>A | CA500142869 | BRCA1 | c.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 |
17 | g.43045681G>C | CA10590146 | BRCA1 | c.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 |
17 | g.43045681G= | CA2260761001 | BRCA1 | c.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= | |
17 | g.43045681G>T | CA10590147 | BRCA1 | c.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 | |
17 | g.43045682T>A | CA10590148 | BRCA1 | c.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 |
17 | g.43045682T>C | CA10590149 | BRCA1 | c.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 |
17 | g.43045682T>G | CA10590150 | BRCA1 | c.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 |
17 | g.43045682T= | CA2260761002 | BRCA1 | c.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= | |
17 | g.43045683A= | CA2260761003 | BRCA1 | c.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= | |
17 | g.43045683A>C | CA10580478 | BRCA1 | c.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 |
17 | g.43045683A>G | CA10590151 | BRCA1 | c.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 |
17 | g.43045683A>T | CA055432 | BRCA1 | c.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 |
17 | g.43045684G>A | CA003736 | BRCA1 | c.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 |
17 | g.43045684G>C | CA10590152 | BRCA1 | c.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 |
17 | g.43045684G= | CA2260761004 | BRCA1 | c.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= | |
17 | g.43045684G>T | CA10590153 | BRCA1 | c.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 |
17 | g.43045685T>A | CA003734 | BRCA1 | c.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 |
17 | g.43045685T>C | CA10590154 | BRCA1 | c.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 |
17 | g.43045685T>G | CA10590155 | BRCA1 | c.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 | |
17 | g.43045685T= | CA2260761005 | BRCA1 | c.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= | |
17 | g.43045686G>A | CA055411 | BRCA1 | c.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 |
17 | g.43045686G>C | CA10590156 | BRCA1 | c.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 |
17 | g.43045686G= | CA2260761006 | BRCA1 | c.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= | |
17 | g.43045686G>T | CA10590157 | BRCA1 | c.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 | |
17 | g.43045687del | CA2638036266 | BRCA1 | c.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 |
17 | g.43045687G>A | CA500142870 | BRCA1 | c.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 |
17 | g.43045687G>C | CA10590158 | BRCA1 | c.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 |
17 | g.43045687G>T | CA10590159 | BRCA1 | c.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 |
17 | g.43045688C>A | CA10590160 | BRCA1 | c.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 |
17 | g.43045688C= | CA2260761007 | BRCA1 | c.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= | |
17 | g.43045688C>G | CA10590161 | BRCA1 | c.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 |
17 | g.43045688C>T | CA10590162 | BRCA1 | c.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 |
17 | g.43045689T>A | CA10590163 | BRCA1 | c.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 |
17 | g.43045689T>C | CA10590164 | BRCA1 | c.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 |
17 | g.43045689T>G | CA10590165 | BRCA1 | c.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 | |
17 | g.43045689T= | CA2260761008 | BRCA1 | c.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= | |
17 | g.43045690_43045691insGGGGGGGTG | CA919844135 | BRCA1 | c.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 |
17 | g.43045690G>A | CA500142871 | BRCA1 | c.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 |
17 | g.43045690G>C | CA10590166 | BRCA1 | c.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 |
17 | g.43045690G= | CA2260761010 | BRCA1 | c.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= | |
17 | g.43045690G>T | CA10590167 | BRCA1 | c.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 |
17 | g.43045690_43045691insGGGGGGGGG | CA290815285 | BRCA1 | c.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 |
17 | g.43045690_43045699delinsGTGGGGGATC | CA2260761009 | BRCA1 | c.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 | |
17 | g.43045690_43045691insGGGGGGGTC | CA626075480 | BRCA1 | c.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 |
17 | g.43045691T>A | CA10590168 | BRCA1 | c.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 | |
17 | g.43045691T>C | CA10590169 | BRCA1 | c.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 | |
17 | g.43045691T>G | CA003731 | BRCA1 | c.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 |
17 | g.43045691T= | CA2260761011 | BRCA1 | c.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= | |
17 | g.43045691_43045692delinsTG | CA2260761012 | BRCA1 | c.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 | |
17 | g.43045696_43045704del | CA003724 | BRCA1 | c.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 |
17 | g.43045692G>A | CA10590170 | BRCA1 | c.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 | |
17 | g.43045692G>C | CA10590171 | BRCA1 | c.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 |
17 | g.43045692G>T | CA10590172 | BRCA1 | c.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 |
17 | g.43045696dup | CA003730 | BRCA1 | c.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 |
17 | g.43045696del | CA919844136 | BRCA1 | c.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 |
17 | g.43045693G>A | CA500142872 | BRCA1 | c.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 |
17 | g.43045693G>C | CA500142873 | BRCA1 | c.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 |
17 | g.43045693G>T | CA500142874 | BRCA1 | c.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 | |
17 | g.43045694G>A | CA10590173 | BRCA1 | c.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 |
17 | g.43045694G>C | CA003729 | BRCA1 | c.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 |
17 | g.43045694G= | CA2260761013 | BRCA1 | c.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= | |
17 | g.43045694G>T | CA10590174 | BRCA1 | c.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 |
17 | g.43045695G>A | CA10590175 | BRCA1 | c.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 |
17 | g.43045695G>C | CA10590176 | BRCA1 | c.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 |
17 | g.43045695G= | CA2260761014 | BRCA1 | c.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= | |
17 | g.43045695G>T | CA10590177 | BRCA1 | c.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 |
17 | g.43045696G>A | CA10580479 | BRCA1 | c.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 |
17 | g.43045696G>C | CA10590178 | BRCA1 | c.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 |
17 | g.43045696G= | CA2260761016 | BRCA1 | c.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= | |
17 | g.43045696G>T | CA500142875 | BRCA1 | c.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 |
17 | g.43045696_43045700delinsGATCT | CA2260761015 | BRCA1 | c.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 | |
17 | g.43045696_43045705delinsGATCTGGGGT | CA2260761017 | BRCA1 | c.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 | |
17 | g.43045697A= | CA2260761018 | BRCA1 | c.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= | |
17 | g.43045697A>C | CA10590179 | BRCA1 | c.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 | |
17 | g.43045697A>G | CA003728 | BRCA1 | c.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 |
17 | g.43045697A>T | CA10590180 | BRCA1 | c.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 |
17 | g.43045697_43045700del | CA055378 | BRCA1 | c.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 |
17 | g.43045700_43045708del | CA003720 | BRCA1 | c.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 |
17 | g.43045698T>A | CA10590181 | BRCA1 | c.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 |
17 | g.43045698T>C | CA10590182 | BRCA1 | c.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 |
17 | g.43045698T>G | CA003726 | BRCA1 | c.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 |
17 | g.43045698T= | CA2260761019 | BRCA1 | c.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= | |
17 | g.43045698_43045699delinsTC | CA2260761020 | BRCA1 | c.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 | |
17 | g.43045698_43045701delinsACT | CA2825002509 | BRCA1 | c.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 |
17 | g.43045699C>A | CA10584544 | BRCA1 | c.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 |
17 | g.43045699C= | CA2260761021 | BRCA1 | c.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= | |
17 | g.43045699C>G | CA003725 | BRCA1 | c.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 |
17 | g.43045699C>T | CA500142876 | BRCA1 | c.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 |
17 | g.43045699delinsGT | CA919844137 | BRCA1 | c.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 |
17 | g.43045700T>A | CA10590183 | BRCA1 | c.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 | |
17 | g.43045700T>C | CA10590184 | BRCA1 | c.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 |
17 | g.43045700T>G | CA10590185 | BRCA1 | c.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 | |
17 | g.43045700_43045701delinsTG | CA2260761022 | BRCA1 | c.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 | |
17 | g.43045700_43045713delinsTGGGGTATCAGGTA | CA2260761023 | BRCA1 | c.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 | |
17 | g.43045701G>A | CA10590186 | BRCA1 | c.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 |
17 | g.43045701G>C | CA10590187 | BRCA1 | c.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 |
17 | g.43045701G>T | CA10590188 | BRCA1 | c.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 |
17 | g.43045704dup | CA2838205755 | BRCA1 | c.5566dup (p.Gln1856ProfsTer23) c.5569dup (p.Gln1857ProfsTer23) c.5443dup (p.Gln1815ProfsTer23) c.5563dup (p.Gln1855ProfsTer23) c.5491dup (p.Gln1831ProfsTer23) c.2257dup (p.Gln753ProfsTer23) c.2119dup (p.Gln707ProfsTer23) c.4681dup (p.Gln1561ProfsTer23) c.5446dup (p.Gln1816ProfsTer23) c.5635dup (p.Gln1879ProfsTer23) c.5428dup (p.Gln1810ProfsTer23) c.2131dup (p.Gln711ProfsTer23) n.1452dup n.933dup c.5632dup (p.Gln1878ProfsTer23) c.1956dup c.2143dup (p.Gln715ProfsTer23) c.*5352dup (n.*5352dup) c.*83dup (n.*83dup) c.2257dup (p.Gln753ProfsTer?) c.499dup (p.Gln167ProfsTer23) c.1042dup (p.Gln348ProfsTer23) c.268dup (p.Gln90ProfsTer23) n.5705dup n.5746dup | |
17 | g.43045704del | CA10588652 | BRCA1 | c.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 |
17 | g.43045703_43045715del | CA1139665547 | BRCA1 | c.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 |
17 | g.43045702G>A | CA500142877 | BRCA1 | c.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 |
17 | g.43045702G>C | CA16615363 | BRCA1 | c.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 |
17 | g.43045702G= | CA2260761024 | BRCA1 | c.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= | |
17 | g.43045702G>T | CA10580480 | BRCA1 | c.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 |
17 | g.43045703G>A | CA10590189 | BRCA1 | c.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 |
17 | g.43045703G>C | CA10590190 | BRCA1 | c.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 |
17 | g.43045703G= | CA2260761025 | BRCA1 | c.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= | |
17 | g.43045703G>T | CA10590191 | BRCA1 | c.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 |
17 | g.43045704G>A | CA003722 | BRCA1 | c.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 |
17 | g.43045704G>C | CA10590192 | BRCA1 | c.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 |
17 | g.43045704G= | CA2260761026 | BRCA1 | c.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= | |
17 | g.43045704G>T | CA10590193 | BRCA1 | c.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 |
17 | g.43045705T>A | CA500142878 | BRCA1 | c.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 |
17 | g.43045705T>C | CA10590194 | BRCA1 | c.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 |
17 | g.43045705T>G | CA055363 | BRCA1 | c.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 |
17 | g.43045705T= | CA2260761029 | BRCA1 | c.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= | |
17 | g.43045705_43045706delinsTA | CA2260761027 | BRCA1 | c.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 | |
17 | g.43045705_43045767delinsTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG | CA2260761028 | BRCA1 | c.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 | |
17 | g.43045706del | CA658684035 | BRCA1 | c.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 |
17 | g.43045706A= | CA2260761031 | BRCA1 | c.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= | |
17 | g.43045706A>C | CA10590195 | BRCA1 | c.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 |
17 | g.43045706A>G | CA10590196 | BRCA1 | c.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 |
17 | g.43045706A>T | CA10590197 | BRCA1 | c.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 |
17 | g.43045706_43045707insGGA | CA2638036267 | BRCA1 | c.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 |
17 | g.43045706_43045707delinsAT | CA2260761030 | BRCA1 | c.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 | |
17 | g.43045706_43045767del | CA003672 | BRCA1 | c.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 |
17 | g.43045707T>A | CA10590198 | BRCA1 | c.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 |
17 | g.43045707T>C | CA10590199 | BRCA1 | c.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 |
17 | g.43045707T>G | CA10590200 | BRCA1 | c.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 |
17 | g.43045707T= | CA2260761033 | BRCA1 | c.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= | |
17 | g.43045707delinsGGATCC | CA915950023 | BRCA1 | c.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 |
17 | g.43045707_43045708delinsTC | CA2260761032 | BRCA1 | c.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 | |
17 | g.43045708del | CA10575938 | BRCA1 | c.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 |
17 | g.43045708C>A | CA500142879 | BRCA1 | c.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 |
17 | g.43045708C= | CA2260761034 | BRCA1 | c.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= | |
17 | g.43045708C>G | CA500142880 | BRCA1 | c.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 |
17 | g.43045708C>T | CA003719 | BRCA1 | c.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 |
17 | g.43045708_43045709insCC | CA2638036268 | BRCA1 | c.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 |
17 | g.43045709del | CA2499224339 | BRCA1 | c.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 |
17 | g.43045709A= | CA2260761038 | BRCA1 | c.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= | |
17 | g.43045709A>C | CA10590201 | BRCA1 | c.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 |
17 | g.43045709A>G | CA003718 | BRCA1 | c.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 |
17 | g.43045709A>T | CA10590202 | BRCA1 | c.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 |
17 | g.43045709_43045710delinsAG | CA2260761036 | BRCA1 | c.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 | |
17 | g.43045709_43045714delinsAGGTAG | CA2260761037 | BRCA1 | c.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 | |
17 | g.43045713_43045716dup | CA2260761035 | BRCA1 | c.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 |
17 | g.43045710G>A | CA500142881 | BRCA1 | c.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 |
17 | g.43045710G>C | CA10590203 | BRCA1 | c.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 |
17 | g.43045710G= | CA2260761039 | BRCA1 | c.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= | |
17 | g.43045710G>T | CA10590204 | BRCA1 | c.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 |
17 | g.43045711del | CA10589580 | BRCA1 | c.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 |
17 | g.43045711_43045715del | CA10589579 | BRCA1 | c.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 |
17 | g.43045711_43045717del | CA2580612614 | BRCA1 | c.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 |
17 | g.43045711G>A | CA500142882 | BRCA1 | c.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 |
17 | g.43045711G>C | CA003716 | BRCA1 | c.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 |
17 | g.43045711G= | CA2260761040 | BRCA1 | c.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= | |
17 | g.43045711G>T | CA003715 | BRCA1 | c.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 |
17 | g.43045711_43045716delinsGTAGGT | CA2260761041 | BRCA1 | c.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 | |
17 | g.43045712T>A | CA10590205 | BRCA1 | c.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 |
17 | g.43045712T>C | CA003714 | BRCA1 | c.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 |
17 | g.43045712T>G | CA10590206 | BRCA1 | c.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 |
17 | g.43045712T= | CA2260761042 | BRCA1 | c.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= | |
17 | g.43045712dup | CA003713 | BRCA1 | c.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 |
17 | g.43045712_43045716del | CA915950024 | BRCA1 | c.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 |
17 | g.43045713del | CA2580093792 | BRCA1 | c.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 |
17 | g.43045713A= | CA2260761044 | BRCA1 | c.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= | |
17 | g.43045713A>C | CA10590207 | BRCA1 | c.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 |
17 | g.43045713A>G | CA10590208 | BRCA1 | c.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 |
17 | g.43045713A>T | CA10590209 | BRCA1 | c.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 |
17 | g.43045713_43045733delinsAGGTGTCCAGCTCCTGGCACT | CA2260761043 | BRCA1 | c.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 | |
17 | g.43045714G>A | CA500142883 | BRCA1 | c.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 |
17 | g.43045714G>C | CA003712 | BRCA1 | c.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 |
17 | g.43045714G= | CA2260761045 | BRCA1 | c.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= | |
17 | g.43045714G>T | CA500142884 | BRCA1 | c.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 |
17 | g.43045714_43045716delinsGGT | CA2260761046 | BRCA1 | c.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 | |
17 | g.43045717_43045736del | CA10589581 | BRCA1 | c.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 |
17 | g.43045715G>A | CA003711 | BRCA1 | c.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 |
17 | g.43045715G>C | CA10590210 | BRCA1 | c.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 |
17 | g.43045715G= | CA2260761047 | BRCA1 | c.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= | |
17 | g.43045715G>T | CA10590211 | BRCA1 | c.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 |
17 | g.43045717_43045718del | CA916080701 | BRCA1 | c.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 |
17 | g.43045716T>A | CA501170 | BRCA1 | c.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 |
17 | g.43045716T>C | CA10590212 | BRCA1 | c.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 |
17 | g.43045716T>G | CA10590213 | BRCA1 | c.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 |
17 | g.43045716T= | CA2260761048 | BRCA1 | c.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= | |
17 | g.43045717G>A | CA500142885 | BRCA1 | c.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 |
17 | g.43045717G>C | CA10590214 | BRCA1 | c.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 |
17 | g.43045717G= | CA2260761049 | BRCA1 | c.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= | |
17 | g.43045717G>T | CA003710 | BRCA1 | c.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 |
17 | g.43045717dup | CA328027 | BRCA1 | c.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 |
17 | g.43045718T>A | CA10590215 | BRCA1 | c.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 |
17 | g.43045718T>C | CA10590216 | BRCA1 | c.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 |
17 | g.43045718T>G | CA10590217 | BRCA1 | c.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 |
17 | g.43045718T= | CA2260761051 | BRCA1 | c.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= | |
17 | g.43045718_43045719delinsTC | CA2260761050 | BRCA1 | c.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 | |
17 | g.43045718_43045719insA | CA2825002510 | BRCA1 | c.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 |
17 | g.43045719C>A | CA10590218 | BRCA1 | c.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 |
17 | g.43045719C= | CA2260761052 | BRCA1 | c.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= | |
17 | g.43045719C>G | CA10590219 | BRCA1 | c.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 |
17 | g.43045719C>T | CA10590220 | BRCA1 | c.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 |
17 | g.43045720del | CA10589582 | BRCA1 | c.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 |
17 | g.43045720C>A | CA500142886 | BRCA1 | c.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 |
17 | g.43045720C= | CA2260761053 | BRCA1 | c.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= | |
17 | g.43045720C>G | CA003709 | BRCA1 | c.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 |
17 | g.43045720C>T | CA16609840 | BRCA1 | c.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 |
17 | g.43045721A= | CA2260761055 | BRCA1 | c.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= | |
17 | g.43045721A>C | CA10590221 | BRCA1 | c.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 |
17 | g.43045721A>G | CA10590222 | BRCA1 | c.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 |
17 | g.43045721A>T | CA10590223 | BRCA1 | c.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 |
17 | g.43045721delinsTG | CA2825002511 | BRCA1 | c.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 |
17 | g.43045721_43045722delinsAG | CA2260761054 | BRCA1 | c.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 | |
17 | g.43045722del | CA003707 | BRCA1 | c.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 |
17 | g.43045722G>A | CA500142887 | BRCA1 | c.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 |
17 | g.43045722G>C | CA10590224 | BRCA1 | c.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 |
17 | g.43045722G= | CA2260761056 | BRCA1 | c.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= | |
17 | g.43045722G>T | CA10590225 | BRCA1 | c.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 |
17 | g.43045723C>A | CA10590226 | BRCA1 | c.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 |
17 | g.43045723C= | CA2260761057 | BRCA1 | c.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= | |
17 | g.43045723C>G | CA10590227 | BRCA1 | c.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 |
17 | g.43045723C>T | CA500142888 | BRCA1 | c.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 |
17 | g.43045724T>A | CA10590228 | BRCA1 | c.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 |
17 | g.43045724T>C | CA10590229 | BRCA1 | c.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 |
17 | g.43045724T>G | CA10590230 | BRCA1 | c.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 |
17 | g.43045724T= | CA2260761059 | BRCA1 | c.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= | |
17 | g.43045724_43045727delinsTCCT | CA2260761058 | BRCA1 | c.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 | |
17 | g.43045725C>A | CA10590231 | BRCA1 | c.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 |
17 | g.43045725C= | CA2260761060 | BRCA1 | c.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= | |
17 | g.43045725C>G | CA10590232 | BRCA1 | c.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 |
17 | g.43045725C>T | CA10590233 | BRCA1 | c.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 |
17 | g.43045726C>A | CA10590234 | BRCA1 | c.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 |
17 | g.43045726C= | CA2260761061 | BRCA1 | c.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= | |
17 | g.43045726C>G | CA10590235 | BRCA1 | c.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 |
17 | g.43045726C>T | CA500142889 | BRCA1 | c.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 |
17 | g.43045727T>A | CA10590236 | BRCA1 | c.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 |
17 | g.43045727T>C | CA10590237 | BRCA1 | c.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 |
17 | g.43045727T>G | CA10590238 | BRCA1 | c.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 |
17 | g.43045727T= | CA2260761062 | BRCA1 | c.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= | |
17 | g.43045728G>A | CA10589583 | BRCA1 | c.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 |
17 | g.43045728G>C | CA10590239 | BRCA1 | c.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 |
17 | g.43045728G= | CA2260761063 | BRCA1 | c.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= | |
17 | g.43045728G>T | CA10590240 | BRCA1 | c.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 |
17 | g.43045729dup | CA2695226100 | BRCA1 | c.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 | |
17 | g.43045729G>A | CA16615743 | BRCA1 | c.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 |
17 | g.43045729G>C | CA055273 | BRCA1 | c.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 |
17 | g.43045729G= | CA2260761064 | BRCA1 | c.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= | |
17 | g.43045729G>T | CA003706 | BRCA1 | c.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 |
17 | g.43045730C>A | CA10590241 | BRCA1 | c.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 |
17 | g.43045730C= | CA2260761065 | BRCA1 | c.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= | |
17 | g.43045730C>G | CA10590242 | BRCA1 | c.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 |
17 | g.43045730C>T | CA10590243 | BRCA1 | c.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 |
17 | g.43045730_43045736delinsCACTGGT | CA2260761066 | BRCA1 | c.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 | |
17 | g.43045730_43045731insCAGTGCCAGGACAGCAGG | CA914177697 | BRCA1 | c.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 |
17 | g.43045731A= | CA2260761067 | BRCA1 | c.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= | |
17 | g.43045731A>C | CA10590244 | BRCA1 | c.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 |
17 | g.43045731A>G | CA10590245 | BRCA1 | c.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 |
17 | g.43045731A>T | CA10590246 | BRCA1 | c.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 |
17 | g.43045731_43045736delinsCCTGCTGTCCTGGCACTGG | CA1139665548 | BRCA1 | c.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 |
17 | g.43045732C>A | CA10590247 | BRCA1 | c.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 |
17 | g.43045732C= | CA2260761069 | BRCA1 | c.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= | |
17 | g.43045732C>G | CA055269 | BRCA1 | c.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 |
17 | g.43045732C>T | CA003705 | BRCA1 | c.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 |
17 | g.43045732_43045736delinsCTGGT | CA2260761068 | BRCA1 | c.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 | |
17 | g.43045733T>A | CA10590248 | BRCA1 | c.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 |
17 | g.43045733T>C | CA10590249 | BRCA1 | c.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 |
17 | g.43045733T>G | CA10590250 | BRCA1 | c.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 |
17 | g.43045733T= | CA2260761070 | BRCA1 | c.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= | |
17 | g.43045733_43045734delinsTG | CA2260761071 | BRCA1 | c.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 | |
17 | g.43045733_43045736del | CA914177698 | BRCA1 | c.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 |
17 | g.43045734G>A | CA003704 | BRCA1 | c.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 |
17 | g.43045734G>C | CA10590251 | BRCA1 | c.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 |
17 | g.43045734G= | CA2260761072 | BRCA1 | c.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= | |
17 | g.43045734G>T | CA10590252 | BRCA1 | c.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 |
17 | g.43045735del | CA10589584 | BRCA1 | c.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 |
17 | g.43045734_43045743dup | CA2638036269 | BRCA1 | c.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 |
17 | g.43045735G>A | CA500142890 | BRCA1 | c.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 |
17 | g.43045735G>C | CA10589585 | BRCA1 | c.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 |
17 | g.43045735G= | CA2260761074 | BRCA1 | c.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= | |
17 | g.43045735G>T | CA003703 | BRCA1 | c.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 |
17 | g.43045735_43045736delinsGT | CA2260761073 | BRCA1 | c.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 | |
17 | g.43045736del | CA16616882 | BRCA1 | c.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 |
17 | g.43045736T>A | CA10590253 | BRCA1 | c.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 |
17 | g.43045736T>C | CA10580481 | BRCA1 | c.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 |
17 | g.43045736T>G | CA10590254 | BRCA1 | c.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 |
17 | g.43045736T= | CA2260761075 | BRCA1 | c.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= | |
17 | g.43045736_43045738delinsTAG | CA2260761076 | BRCA1 | c.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 | |
17 | g.43045736_43045737insC | CA658824706 | BRCA1 | c.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 |
17 | g.43045737A= | CA2260761077 | BRCA1 | c.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= | |
17 | g.43045737A>C | CA10590255 | BRCA1 | c.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 |
17 | g.43045737A>G | CA10590256 | BRCA1 | c.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 |
17 | g.43045737A>T | CA10590257 | BRCA1 | c.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 |
17 | g.43045737dup | CA328026 | BRCA1 | c.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 |
17 | g.43045739_43045740del | CA16620417 | BRCA1 | c.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 |
17 | g.43045737_43045738insC | CA003700 | BRCA1 | c.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 |
17 | g.43045738G>A | CA003702 | BRCA1 | c.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 |
17 | g.43045738G>C | CA500142891 | BRCA1 | c.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 |
17 | g.43045738G= | CA2260761079 | BRCA1 | c.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= | |
17 | g.43045738G>T | CA500142892 | BRCA1 | c.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 |
17 | g.43045738_43045746delinsGAGTGCTAC | CA2260761078 | BRCA1 | c.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 | |
17 | g.43045739A= | CA2260761080 | BRCA1 | c.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= | |
17 | g.43045739A>C | CA003699 | BRCA1 | c.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 |
17 | g.43045739A>G | CA055255 | BRCA1 | c.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 |
17 | g.43045739A>T | CA10590258 | BRCA1 | c.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 |
17 | g.43045740_43045747del | CA10585905 | BRCA1 | c.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 |
17 | g.43045740del | CA2499224340 | BRCA1 | c.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 |
17 | g.43045740G>A | CA10590259 | BRCA1 | c.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 |
17 | g.43045740G>C | CA10590260 | BRCA1 | c.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 |
17 | g.43045740G= | CA2260761082 | BRCA1 | c.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= | |
17 | g.43045740G>T | CA10590261 | BRCA1 | c.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 |
17 | g.43045740_43045741delinsGT | CA2260761081 | BRCA1 | c.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 | |
17 | g.43045740_43045741delinsTG | CA645509524 | BRCA1 | c.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 |
17 | g.43045741T>A | CA500142893 | BRCA1 | c.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 |
17 | g.43045741T>C | CA500142894 | BRCA1 | c.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 |
17 | g.43045741T>G | CA500142895 | BRCA1 | c.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 |
17 | g.43045741T= | CA2260761083 | BRCA1 | c.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= | |
17 | g.43045742G>A | CA10590262 | BRCA1 | c.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 |
17 | g.43045742G>C | CA10590263 | BRCA1 | c.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 |
17 | g.43045742G= | CA2260761084 | BRCA1 | c.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= | |
17 | g.43045742G>T | CA003698 | BRCA1 | c.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 |
17 | g.43045743C>A | CA10590264 | BRCA1 | c.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 |
17 | g.43045743C= | CA2260761085 | BRCA1 | c.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= | |
17 | g.43045743C>G | CA003697 | BRCA1 | c.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 |
17 | g.43045743C>T | CA10590265 | BRCA1 | c.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 |
17 | g.43045744T>A | CA500142898 | BRCA1 | c.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 |
17 | g.43045744T>C | CA500142896 | BRCA1 | c.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 |
17 | g.43045744T>G | CA500142897 | BRCA1 | c.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 |
17 | g.43045744T= | CA2260761086 | BRCA1 | c.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= | |
17 | g.43045744dup | CA2844624939 | BRCA1 | c.5523dup (p.Ala1842SerfsTer?) c.5526dup (p.Ala1843SerfsTer?) c.5400dup (p.Ala1801SerfsTer?) c.5520dup (p.Ala1841SerfsTer?) c.5448dup (p.Ala1817SerfsTer?) c.2214dup (p.Ala739SerfsTer?) c.2076dup (p.Ala693SerfsTer?) c.4638dup (p.Ala1547SerfsTer?) c.5403dup (p.Ala1802SerfsTer?) c.5592dup (p.Ala1865SerfsTer?) c.5385dup (p.Ala1796SerfsTer?) c.2088dup (p.Ala697SerfsTer?) n.1409dup n.890dup c.5589dup (p.Ala1864SerfsTer?) c.1913dup c.2100dup (p.Ala701SerfsTer?) c.*5309dup (n.*5309dup) c.*40dup (n.*40dup) c.456dup (p.Ala153SerfsTer?) c.999dup (p.Ala334SerfsTer?) c.225dup (p.Ala76SerfsTer?) n.5662dup n.5703dup | |
17 | g.43045744_43045745delinsTA | CA2260761087 | BRCA1 | c.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 | |
17 | g.43045744_43045770delinsACTCTACCAGTG | CA2573153991 | BRCA1 | c.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 |
17 | g.43045745del | CA348508 | BRCA1 | c.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 |
17 | g.43045745A= | CA2260761088 | BRCA1 | c.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= | |
17 | g.43045745A>C | CA10590266 | BRCA1 | c.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 |
17 | g.43045745A>G | CA10590267 | BRCA1 | c.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 |
17 | g.43045745A>T | CA10590268 | BRCA1 | c.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 |
17 | g.43045747_43045748del | CA2695226101 | BRCA1 | c.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 | |
17 | g.43045746C>A | CA10590269 | BRCA1 | c.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 |
17 | g.43045746C= | CA2260761089 | BRCA1 | c.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= | |
17 | g.43045746C>G | CA10590270 | BRCA1 | c.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 |
17 | g.43045746C>T | CA10590271 | BRCA1 | c.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 |
17 | g.43045750_43045763del | CA2499224341 | BRCA1 | c.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 | |
17 | g.43045747A= | CA2260761090 | BRCA1 | c.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= | |
17 | g.43045747A>C | CA10590272 | BRCA1 | c.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 |
17 | g.43045747A>G | CA10583545 | BRCA1 | c.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 |
17 | g.43045747A>T | CA10590273 | BRCA1 | c.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 |
17 | g.43045749_43045756del | CA2740099746 | BRCA1 | c.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 | |
17 | g.43045748C>A | CA10590274 | BRCA1 | c.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 |
17 | g.43045748C= | CA2260761091 | BRCA1 | c.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= | |
17 | g.43045748C>G | CA10590275 | BRCA1 | c.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 |
17 | g.43045748C>T | CA003696 | BRCA1 | c.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 |
17 | g.43045748dup | CA2573320613 | BRCA1 | c.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 | |
17 | g.43045748_43045749delinsCT | CA2260761092 | BRCA1 | c.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 | |
17 | g.43045749del | CA003695 | BRCA1 | c.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 |
17 | g.43045749T>A | CA10590276 | BRCA1 | c.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 |
17 | g.43045749T>C | CA10590277 | BRCA1 | c.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 |
17 | g.43045749T>G | CA003694 | BRCA1 | c.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 |
17 | g.43045749T= | CA2260761093 | BRCA1 | c.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= | |
17 | g.43045750G>A | CA500142899 | BRCA1 | c.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 |
17 | g.43045750G>C | CA10590278 | BRCA1 | c.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 |
17 | g.43045750G= | CA2260761094 | BRCA1 | c.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= | |
17 | g.43045750G>T | CA10590279 | BRCA1 | c.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 |
17 | g.43045750dup | CA2695226103 | BRCA1 | c.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 | |
17 | g.43045751_43045814dup | CA10602569 | BRCA1 | c.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 |
17 | g.43045751T>A | CA10590280 | BRCA1 | c.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 |
17 | g.43045751T>C | CA10590281 | BRCA1 | c.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 |
17 | g.43045751T>G | CA10590282 | BRCA1 | c.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 |
17 | g.43045751T= | CA2260761095 | BRCA1 | c.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= | |
17 | g.43045751_43045752delinsTC | CA2260761096 | BRCA1 | c.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 | |
17 | g.43045752C>A | CA10590283 | BRCA1 | c.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 |
17 | g.43045752C= | CA2260761097 | BRCA1 | c.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= | |
17 | g.43045752C>G | CA10590284 | BRCA1 | c.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 |
17 | g.43045752C>T | CA10590285 | BRCA1 | c.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 |
17 | g.43045753del | CA658824707 | BRCA1 | c.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 |
17 | g.43045752_43045753insG | CA915950025 | BRCA1 | c.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 |
17 | g.43045753C>A | CA10590286 | BRCA1 | c.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 |
17 | g.43045753C= | CA2260761098 | BRCA1 | c.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= | |
17 | g.43045753C>G | CA10590287 | BRCA1 | c.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 |
17 | g.43045753C>T | CA500142900 | BRCA1 | c.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 |
17 | g.43045754A= | CA2260761099 | BRCA1 | c.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= | |
17 | g.43045754A>C | CA10590288 | BRCA1 | c.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 |
17 | g.43045754A>G | CA003693 | BRCA1 | c.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 |
17 | g.43045754A>T | CA10590289 | BRCA1 | c.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 |
17 | g.43045755del | CA2573153992 | BRCA1 | c.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 |
17 | g.43045755A= | CA2260761100 | BRCA1 | c.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= | |
17 | g.43045755A>C | CA10590290 | BRCA1 | c.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 |
17 | g.43045755A>G | CA500142902 | BRCA1 | c.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 |
17 | g.43045755A>T | CA10590291 | BRCA1 | c.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 |
17 | g.43045756del | CA2573153993 | BRCA1 | c.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 |
17 | g.43045756C>A | CA003692 | BRCA1 | c.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 |
17 | g.43045756C= | CA2260761101 | BRCA1 | c.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= | |
17 | g.43045756C>G | CA500142904 | BRCA1 | c.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 |
17 | g.43045756C>T | CA500142905 | BRCA1 | c.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 |
17 | g.43045760_43045774del | CA003669 | BRCA1 | c.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 | |
17 | g.43045757A= | CA2260761102 | BRCA1 | c.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= | |
17 | g.43045757A>C | CA10586676 | BRCA1 | c.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 |
17 | g.43045757A>G | CA10590292 | BRCA1 | c.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 |
17 | g.43045757A>T | CA003690 | BRCA1 | c.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 |
17 | g.43045757_43045758delinsAC | CA2260761103 | BRCA1 | c.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 | |
17 | g.43045758C>A | CA003689 | BRCA1 | c.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 |
17 | g.43045758C= | CA2260761105 | BRCA1 | c.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= | |
17 | g.43045758C>G | CA10590293 | BRCA1 | c.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 |
17 | g.43045758C>T | CA003688 | BRCA1 | c.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 |
17 | g.43045760dup | CA2499224342 | BRCA1 | c.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 | |
17 | g.43045760del | CA003683 | BRCA1 | c.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 |
17 | g.43045758_43045772delinsCCCACTCTCGGGTCA | CA2260761104 | BRCA1 | c.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 | |
17 | g.43045759C>A | CA003686 | BRCA1 | c.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 |
17 | g.43045759C= | CA2260761106 | BRCA1 | c.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= | |
17 | g.43045759C>G | CA10590294 | BRCA1 | c.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 |
17 | g.43045759C>T | CA003685 | BRCA1 | c.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 |
17 | g.43045759_43045760delinsAG | CA2499224343 | BRCA1 | c.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 |
17 | g.43045759_43045761delinsCCA | CA2260761108 | BRCA1 | c.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 | |
17 | g.43045763_43045776del | CA003668 | BRCA1 | c.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 |
17 | g.43045759_43045784delinsCCACTCTCGGGTCACCACAGGTGCCT | CA2260761107 | BRCA1 | c.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 | |
17 | g.43045760C>A | CA10590295 | BRCA1 | c.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 |
17 | g.43045760C= | CA2260761109 | BRCA1 | c.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= | |
17 | g.43045760C>G | CA10590296 | BRCA1 | c.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 |
17 | g.43045760C>T | CA003684 | BRCA1 | c.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 |
17 | g.43045761_43045762del | CA645373148 | BRCA1 | c.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 |
17 | g.43045763_43045787del | CA10589586 | BRCA1 | c.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 |
17 | g.43045761A= | CA2260761110 | BRCA1 | c.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= | |
17 | g.43045761A>C | CA003681 | BRCA1 | c.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 |
17 | g.43045761A>G | CA003680 | BRCA1 | c.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 |
17 | g.43045761A>T | CA10590297 | BRCA1 | c.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 |
17 | g.43045762C>A | CA10590298 | BRCA1 | c.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 |
17 | g.43045762C= | CA2260761111 | BRCA1 | c.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= | |
17 | g.43045762C>G | CA10590299 | BRCA1 | c.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 |
17 | g.43045762C>T | CA500142908 | BRCA1 | c.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 |
17 | g.43045765_43045766del | CA2695226104 | BRCA1 | c.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 | |
17 | g.43045763T>A | CA10590300 | BRCA1 | c.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 |
17 | g.43045763T>C | CA10590301 | BRCA1 | c.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 |
17 | g.43045763T>G | CA10590302 | BRCA1 | c.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 |
17 | g.43045763T= | CA2260761112 | BRCA1 | c.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= | |
17 | g.43045763_43045767delinsTCTCG | CA2260761113 | BRCA1 | c.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 | |
17 | g.43045763_43045774delinsTCTCGGGTCACC | CA2260761114 | BRCA1 | c.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 | |
17 | g.43045764del | CA2499224344 | BRCA1 | c.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 | |
17 | g.43045764C>A | CA003679 | BRCA1 | c.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 |
17 | g.43045764C= | CA2260761115 | BRCA1 | c.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= | |
17 | g.43045764C>G | CA10590303 | BRCA1 | c.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 |
17 | g.43045764C>T | CA003678 | BRCA1 | c.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 |
17 | g.43045764_43045767del | CA10589587 | BRCA1 | c.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 |
17 | g.43045764_43045774delinsT | CA003665 | BRCA1 | c.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 |
17 | g.43045765_43045774del | CA003666 | BRCA1 | c.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 |
17 | g.43045765T>A | CA500142909 | BRCA1 | c.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 |
17 | g.43045765T>C | CA500142910 | BRCA1 | c.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 |
17 | g.43045765T>G | CA500142911 | BRCA1 | c.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 |
17 | g.43045765T= | CA2260761116 | BRCA1 | c.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= | |
17 | g.43045766C>A | CA10590304 | BRCA1 | c.5501G>T (p.Arg1834Leu) c.5504G>T (p.Arg1835Leu) c.5378G>T (p.Arg1793Leu) c.5498G>T (p.Arg1833Leu) c.5426G>T (p.Arg1809Leu) c.2192G>T (p.Arg731Leu) c.2054G>T (p.Arg685Leu) c.4616G>T (p.Arg1539Leu) c.5381G>T (p.Arg1794Leu) c.5570G>T (p.Arg1857Leu) c.5363G>T (p.Arg1788Leu) c.2066G>T (p.Arg689Leu) n.1387G>T n.868G>T c.5567G>T (p.Arg1856Leu) c.1891G>T c.2078G>T (p.Arg693Leu) c.*5287G>T (n.*5287G>T) c.*18G>T (n.*18G>T) c.434G>T (p.Arg145Leu) c.977G>T (p.Arg326Leu) c.203G>T (p.Arg68Leu) n.5640G>T n.5681G>T | ClinVar dbSNP |
17 | g.43045766C= | CA2260761117 | BRCA1 | c.5501G= (p.Arg1834=) c.5504G= (p.Arg1835=) c.5378G= (p.Arg1793=) c.5498G= (p.Arg1833=) c.5426G= (p.Arg1809=) c.2192G= (p.Arg731=) c.2054G= (p.Arg685=) c.4616G= (p.Arg1539=) c.5381G= (p.Arg1794=) c.5570G= (p.Arg1857=) c.5363G= (p.Arg1788=) c.2066G= (p.Arg689=) n.1387G= n.868G= c.5567G= (p.Arg1856=) c.1891G= c.2078G= (p.Arg693=) c.*5287G= (n.*5287G=) c.*18G= (n.*18G=) c.434G= (p.Arg145=) c.977G= (p.Arg326=) c.203G= (p.Arg68=) n.5640G= n.5681G= | |
17 | g.43045766C>G | CA003677 | BRCA1 | c.5501G>C (p.Arg1834Pro) c.5504G>C (p.Arg1835Pro) c.5378G>C (p.Arg1793Pro) c.5498G>C (p.Arg1833Pro) c.5426G>C (p.Arg1809Pro) c.2192G>C (p.Arg731Pro) c.2054G>C (p.Arg685Pro) c.4616G>C (p.Arg1539Pro) c.5381G>C (p.Arg1794Pro) c.5570G>C (p.Arg1857Pro) c.5363G>C (p.Arg1788Pro) c.2066G>C (p.Arg689Pro) n.1387G>C n.868G>C c.5567G>C (p.Arg1856Pro) c.1891G>C c.2078G>C (p.Arg693Pro) c.*5287G>C (n.*5287G>C) c.*18G>C (n.*18G>C) c.434G>C (p.Arg145Pro) c.977G>C (p.Arg326Pro) c.203G>C (p.Arg68Pro) n.5640G>C n.5681G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43045766C>T | CA003676 | BRCA1 | c.5501G>A (p.Arg1834Gln) c.5504G>A (p.Arg1835Gln) c.5378G>A (p.Arg1793Gln) c.5498G>A (p.Arg1833Gln) c.5426G>A (p.Arg1809Gln) c.2192G>A (p.Arg731Gln) c.2054G>A (p.Arg685Gln) c.4616G>A (p.Arg1539Gln) c.5381G>A (p.Arg1794Gln) c.5570G>A (p.Arg1857Gln) c.5363G>A (p.Arg1788Gln) c.2066G>A (p.Arg689Gln) n.1387G>A n.868G>A c.5567G>A (p.Arg1856Gln) c.1891G>A c.2078G>A (p.Arg693Gln) c.*5287G>A (n.*5287G>A) c.*18G>A (n.*18G>A) c.434G>A (p.Arg145Gln) c.977G>A (p.Arg326Gln) c.203G>A (p.Arg68Gln) n.5640G>A n.5681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43045766_43045767delinsCG | CA2260761118 | BRCA1 | c.5500_5501delinsCG (p.Arg1834=) c.5503_5504delinsCG (p.Arg1835=) c.5377_5378delinsCG (p.Arg1793=) c.5497_5498delinsCG (p.Arg1833=) c.5425_5426delinsCG (p.Arg1809=) c.2191_2192delinsCG (p.Arg731=) c.2053_2054delinsCG (p.Arg685=) c.4615_4616delinsCG (p.Arg1539=) c.5380_5381delinsCG (p.Arg1794=) c.5569_5570delinsCG (p.Arg1857=) c.5362_5363delinsCG (p.Arg1788=) c.2065_2066delinsCG (p.Arg689=) n.1386_1387delinsCG n.867_868delinsCG c.5566_5567delinsCG (p.Arg1856=) c.1890_1891delinsCG c.2077_2078delinsCG (p.Arg693=) c.*5286_*5287delinsCG (n.*5286_*5287delinsCG) c.*17_*18delinsCG (n.*17_*18delinsCG) c.433_434delinsCG (p.Arg145=) c.976_977delinsCG (p.Arg326=) c.202_203delinsCG (p.Arg68=) n.5639_5640delinsCG n.5680_5681delinsCG | |
17 | g.43045767G>A | CA003674 | BRCA1 | c.5500C>T (p.Arg1834Ter) c.5503C>T (p.Arg1835Ter) c.5377C>T (p.Arg1793Ter) c.5497C>T (p.Arg1833Ter) c.5425C>T (p.Arg1809Ter) c.2191C>T (p.Arg731Ter) c.2053C>T (p.Arg685Ter) c.4615C>T (p.Arg1539Ter) c.5380C>T (p.Arg1794Ter) c.5569C>T (p.Arg1857Ter) c.5362C>T (p.Arg1788Ter) c.2065C>T (p.Arg689Ter) n.1386C>T n.867C>T c.5566C>T (p.Arg1856Ter) c.1890C>T c.2077C>T (p.Arg693Ter) c.*5286C>T (n.*5286C>T) c.*17C>T (n.*17C>T) c.433C>T (p.Arg145Ter) c.976C>T (p.Arg326Ter) c.202C>T (p.Arg68Ter) n.5639C>T n.5680C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43045767G>C | CA10590305 | BRCA1 | c.5500C>G (p.Arg1834Gly) c.5503C>G (p.Arg1835Gly) c.5377C>G (p.Arg1793Gly) c.5497C>G (p.Arg1833Gly) c.5425C>G (p.Arg1809Gly) c.2191C>G (p.Arg731Gly) c.2053C>G (p.Arg685Gly) c.4615C>G (p.Arg1539Gly) c.5380C>G (p.Arg1794Gly) c.5569C>G (p.Arg1857Gly) c.5362C>G (p.Arg1788Gly) c.2065C>G (p.Arg689Gly) n.1386C>G n.867C>G c.5566C>G (p.Arg1856Gly) c.1890C>G c.2077C>G (p.Arg693Gly) c.*5286C>G (n.*5286C>G) c.*17C>G (n.*17C>G) c.433C>G (p.Arg145Gly) c.976C>G (p.Arg326Gly) c.202C>G (p.Arg68Gly) n.5639C>G n.5680C>G | ClinVar dbSNP |
17 | g.43045767G= | CA2260761119 | BRCA1 | c.5500C= (p.Arg1834=) c.5503C= (p.Arg1835=) c.5377C= (p.Arg1793=) c.5497C= (p.Arg1833=) c.5425C= (p.Arg1809=) c.2191C= (p.Arg731=) c.2053C= (p.Arg685=) c.4615C= (p.Arg1539=) c.5380C= (p.Arg1794=) c.5569C= (p.Arg1857=) c.5362C= (p.Arg1788=) c.2065C= (p.Arg689=) n.1386C= n.867C= c.5566C= (p.Arg1856=) c.1890C= c.2077C= (p.Arg693=) c.*5286C= (n.*5286C=) c.*17C= (n.*17C=) c.433C= (p.Arg145=) c.976C= (p.Arg326=) c.202C= (p.Arg68=) n.5639C= n.5680C= | |
17 | g.43045767G>T | CA500142913 | BRCA1 | c.5500C>A (p.Arg1834=) c.5503C>A (p.Arg1835=) c.5377C>A (p.Arg1793=) c.5497C>A (p.Arg1833=) c.5425C>A (p.Arg1809=) c.2191C>A (p.Arg731=) c.2053C>A (p.Arg685=) c.4615C>A (p.Arg1539=) c.5380C>A (p.Arg1794=) c.5569C>A (p.Arg1857=) c.5362C>A (p.Arg1788=) c.2065C>A (p.Arg689=) n.1386C>A n.867C>A c.5566C>A (p.Arg1856=) c.1890C>A c.2077C>A (p.Arg693=) c.*5286C>A (n.*5286C>A) c.*17C>A (n.*17C>A) c.433C>A (p.Arg145=) c.976C>A (p.Arg326=) c.202C>A (p.Arg68=) n.5639C>A n.5680C>A | ClinVar dbSNP |
17 | g.43045769dup | CA10589589 | BRCA1 | c.5500dup (p.Arg1834ProfsTer?) c.5503dup (p.Arg1835ProfsTer?) c.5377dup (p.Arg1793ProfsTer?) c.5497dup (p.Arg1833ProfsTer?) c.5425dup (p.Arg1809ProfsTer?) c.2191dup (p.Arg731ProfsTer?) c.2053dup (p.Arg685ProfsTer?) c.4615dup (p.Arg1539ProfsTer?) c.5380dup (p.Arg1794ProfsTer?) c.5569dup (p.Arg1857ProfsTer?) c.5362dup (p.Arg1788ProfsTer?) c.2065dup (p.Arg689ProfsTer?) n.1386dup n.867dup c.5566dup (p.Arg1856ProfsTer?) c.1890dup c.2077dup (p.Arg693ProfsTer?) c.*5286dup (n.*5286dup) c.*17dup (n.*17dup) c.433dup (p.Arg145ProfsTer?) c.976dup (p.Arg326ProfsTer?) c.202dup (p.Arg68ProfsTer?) n.5639dup n.5680dup | ClinVar dbSNP |
17 | g.43045768_43045769dup | CA10589588 | BRCA1 | c.5499_5500dup (p.Arg1834ProfsTer9) c.5502_5503dup (p.Arg1835ProfsTer9) c.5376_5377dup (p.Arg1793ProfsTer9) c.5496_5497dup (p.Arg1833ProfsTer9) c.5424_5425dup (p.Arg1809ProfsTer9) c.2190_2191dup (p.Arg731ProfsTer9) c.2052_2053dup (p.Arg685ProfsTer9) c.4614_4615dup (p.Arg1539ProfsTer9) c.5379_5380dup (p.Arg1794ProfsTer9) c.5568_5569dup (p.Arg1857ProfsTer9) c.5361_5362dup (p.Arg1788ProfsTer9) c.2064_2065dup (p.Arg689ProfsTer9) n.1385_1386dup n.866_867dup c.5565_5566dup (p.Arg1856ProfsTer9) c.1889_1890dup c.2076_2077dup (p.Arg693ProfsTer9) c.*5285_*5286dup (n.*5285_*5286dup) c.*16_*17dup (n.*16_*17dup) c.432_433dup (p.Arg145ProfsTer9) c.975_976dup (p.Arg326ProfsTer9) c.201_202dup (p.Arg68ProfsTer9) n.5638_5639dup n.5679_5680dup | ClinVar dbSNP |
17 | g.43045769del | CA003675 | BRCA1 | c.5500del (p.Arg1834GlufsTer8) c.5503del (p.Arg1835GlufsTer8) c.5377del (p.Arg1793GlufsTer8) c.5497del (p.Arg1833GlufsTer8) c.5425del (p.Arg1809GlufsTer8) c.2191del (p.Arg731GlufsTer8) c.2053del (p.Arg685GlufsTer8) c.4615del (p.Arg1539GlufsTer8) c.5380del (p.Arg1794GlufsTer8) c.5569del (p.Arg1857GlufsTer8) c.5362del (p.Arg1788GlufsTer8) c.2065del (p.Arg689GlufsTer8) n.1386del n.867del c.5566del (p.Arg1856GlufsTer8) c.1890del c.2077del (p.Arg693GlufsTer8) c.*5286del (n.*5286del) c.*17del (n.*17del) c.433del (p.Arg145GlufsTer8) c.976del (p.Arg326GlufsTer8) c.202del (p.Arg68GlufsTer8) n.5639del n.5680del | ClinVar dbSNP |
17 | g.43045768_43045769del | CA2580612622 | BRCA1 | c.5499_5500del (p.Glu1835ValfsTer?) c.5502_5503del (p.Glu1836ValfsTer?) c.5376_5377del (p.Glu1794ValfsTer?) c.5496_5497del (p.Glu1834ValfsTer?) c.5424_5425del (p.Glu1810ValfsTer?) c.2190_2191del (p.Glu732ValfsTer?) c.2052_2053del (p.Glu686ValfsTer?) c.4614_4615del (p.Glu1540ValfsTer?) c.5379_5380del (p.Glu1795ValfsTer?) c.5568_5569del (p.Glu1858ValfsTer?) c.5361_5362del (p.Glu1789ValfsTer?) c.2064_2065del (p.Glu690ValfsTer?) n.1385_1386del n.866_867del c.5565_5566del (p.Glu1857ValfsTer?) c.1889_1890del c.2076_2077del (p.Glu694ValfsTer?) c.*5285_*5286del (n.*5285_*5286del) c.*16_*17del (n.*16_*17del) c.432_433del (p.Glu146ValfsTer?) c.975_976del (p.Glu327ValfsTer?) c.201_202del (p.Glu69ValfsTer?) n.5638_5639del n.5679_5680del | ClinVar |
17 | g.43045768G>A | CA16608431 | BRCA1 | c.5499C>T (p.Thr1833=) c.5502C>T (p.Thr1834=) c.5376C>T (p.Thr1792=) c.5496C>T (p.Thr1832=) c.5424C>T (p.Thr1808=) c.2190C>T (p.Thr730=) c.2052C>T (p.Thr684=) c.4614C>T (p.Thr1538=) c.5379C>T (p.Thr1793=) c.5568C>T (p.Thr1856=) c.5361C>T (p.Thr1787=) c.2064C>T (p.Thr688=) n.1385C>T n.866C>T c.5565C>T (p.Thr1855=) c.1889C>T c.2076C>T (p.Thr692=) c.*5285C>T (n.*5285C>T) c.*16C>T (n.*16C>T) c.432C>T (p.Thr144=) c.975C>T (p.Thr325=) c.201C>T (p.Thr67=) n.5638C>T n.5679C>T | ClinVar dbSNP |
17 | g.43045768G>C | CA500142915 | BRCA1 | c.5499C>G (p.Thr1833=) c.5502C>G (p.Thr1834=) c.5376C>G (p.Thr1792=) c.5496C>G (p.Thr1832=) c.5424C>G (p.Thr1808=) c.2190C>G (p.Thr730=) c.2052C>G (p.Thr684=) c.4614C>G (p.Thr1538=) c.5379C>G (p.Thr1793=) c.5568C>G (p.Thr1856=) c.5361C>G (p.Thr1787=) c.2064C>G (p.Thr688=) n.1385C>G n.866C>G c.5565C>G (p.Thr1855=) c.1889C>G c.2076C>G (p.Thr692=) c.*5285C>G (n.*5285C>G) c.*16C>G (n.*16C>G) c.432C>G (p.Thr144=) c.975C>G (p.Thr325=) c.201C>G (p.Thr67=) n.5638C>G n.5679C>G | ClinVar dbSNP |
17 | g.43045768G= | CA2260761120 | BRCA1 | c.5499C= (p.Thr1833=) c.5502C= (p.Thr1834=) c.5376C= (p.Thr1792=) c.5496C= (p.Thr1832=) c.5424C= (p.Thr1808=) c.2190C= (p.Thr730=) c.2052C= (p.Thr684=) c.4614C= (p.Thr1538=) c.5379C= (p.Thr1793=) c.5568C= (p.Thr1856=) c.5361C= (p.Thr1787=) c.2064C= (p.Thr688=) n.1385C= n.866C= c.5565C= (p.Thr1855=) c.1889C= c.2076C= (p.Thr692=) c.*5285C= (n.*5285C=) c.*16C= (n.*16C=) c.432C= (p.Thr144=) c.975C= (p.Thr325=) c.201C= (p.Thr67=) n.5638C= n.5679C= | |
17 | g.43045768G>T | CA500142914 | BRCA1 | c.5499C>A (p.Thr1833=) c.5502C>A (p.Thr1834=) c.5376C>A (p.Thr1792=) c.5496C>A (p.Thr1832=) c.5424C>A (p.Thr1808=) c.2190C>A (p.Thr730=) c.2052C>A (p.Thr684=) c.4614C>A (p.Thr1538=) c.5379C>A (p.Thr1793=) c.5568C>A (p.Thr1856=) c.5361C>A (p.Thr1787=) c.2064C>A (p.Thr688=) n.1385C>A n.866C>A c.5565C>A (p.Thr1855=) c.1889C>A c.2076C>A (p.Thr692=) c.*5285C>A (n.*5285C>A) c.*16C>A (n.*16C>A) c.432C>A (p.Thr144=) c.975C>A (p.Thr325=) c.201C>A (p.Thr67=) n.5638C>A n.5679C>A | ClinVar dbSNP |
17 | g.43045769G>A | CA003671 | BRCA1 | c.5498C>T (p.Thr1833Ile) c.5501C>T (p.Thr1834Ile) c.5375C>T (p.Thr1792Ile) c.5495C>T (p.Thr1832Ile) c.5423C>T (p.Thr1808Ile) c.2189C>T (p.Thr730Ile) c.2051C>T (p.Thr684Ile) c.4613C>T (p.Thr1538Ile) c.5378C>T (p.Thr1793Ile) c.5567C>T (p.Thr1856Ile) c.5360C>T (p.Thr1787Ile) c.2063C>T (p.Thr688Ile) n.1384C>T n.865C>T c.5564C>T (p.Thr1855Ile) c.1888C>T c.2075C>T (p.Thr692Ile) c.*5284C>T (n.*5284C>T) c.*15C>T (n.*15C>T) c.431C>T (p.Thr144Ile) c.974C>T (p.Thr325Ile) c.200C>T (p.Thr67Ile) n.5637C>T n.5678C>T | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.43045769G>C | CA10590306 | BRCA1 | c.5498C>G (p.Thr1833Ser) c.5501C>G (p.Thr1834Ser) c.5375C>G (p.Thr1792Ser) c.5495C>G (p.Thr1832Ser) c.5423C>G (p.Thr1808Ser) c.2189C>G (p.Thr730Ser) c.2051C>G (p.Thr684Ser) c.4613C>G (p.Thr1538Ser) c.5378C>G (p.Thr1793Ser) c.5567C>G (p.Thr1856Ser) c.5360C>G (p.Thr1787Ser) c.2063C>G (p.Thr688Ser) n.1384C>G n.865C>G c.5564C>G (p.Thr1855Ser) c.1888C>G c.2075C>G (p.Thr692Ser) c.*5284C>G (n.*5284C>G) c.*15C>G (n.*15C>G) c.431C>G (p.Thr144Ser) c.974C>G (p.Thr325Ser) c.200C>G (p.Thr67Ser) n.5637C>G n.5678C>G | ClinVar dbSNP |
17 | g.43045769G= | CA2260761121 | BRCA1 | c.5498C= (p.Thr1833=) c.5501C= (p.Thr1834=) c.5375C= (p.Thr1792=) c.5495C= (p.Thr1832=) c.5423C= (p.Thr1808=) c.2189C= (p.Thr730=) c.2051C= (p.Thr684=) c.4613C= (p.Thr1538=) c.5378C= (p.Thr1793=) c.5567C= (p.Thr1856=) c.5360C= (p.Thr1787=) c.2063C= (p.Thr688=) n.1384C= n.865C= c.5564C= (p.Thr1855=) c.1888C= c.2075C= (p.Thr692=) c.*5284C= (n.*5284C=) c.*15C= (n.*15C=) c.431C= (p.Thr144=) c.974C= (p.Thr325=) c.200C= (p.Thr67=) n.5637C= n.5678C= | |
17 | g.43045769G>T | CA10590307 | BRCA1 | c.5498C>A (p.Thr1833Asn) c.5501C>A (p.Thr1834Asn) c.5375C>A (p.Thr1792Asn) c.5495C>A (p.Thr1832Asn) c.5423C>A (p.Thr1808Asn) c.2189C>A (p.Thr730Asn) c.2051C>A (p.Thr684Asn) c.4613C>A (p.Thr1538Asn) c.5378C>A (p.Thr1793Asn) c.5567C>A (p.Thr1856Asn) c.5360C>A (p.Thr1787Asn) c.2063C>A (p.Thr688Asn) n.1384C>A n.865C>A c.5564C>A (p.Thr1855Asn) c.1888C>A c.2075C>A (p.Thr692Asn) c.*5284C>A (n.*5284C>A) c.*15C>A (n.*15C>A) c.431C>A (p.Thr144Asn) c.974C>A (p.Thr325Asn) c.200C>A (p.Thr67Asn) n.5637C>A n.5678C>A | ClinVar dbSNP |
17 | g.43045770T>A | CA10590308 | BRCA1 | c.5497A>T (p.Thr1833Ser) c.5500A>T (p.Thr1834Ser) c.5374A>T (p.Thr1792Ser) c.5494A>T (p.Thr1832Ser) c.5422A>T (p.Thr1808Ser) c.2188A>T (p.Thr730Ser) c.2050A>T (p.Thr684Ser) c.4612A>T (p.Thr1538Ser) c.5377A>T (p.Thr1793Ser) c.5566A>T (p.Thr1856Ser) c.5359A>T (p.Thr1787Ser) c.2062A>T (p.Thr688Ser) n.1383A>T n.864A>T c.5563A>T (p.Thr1855Ser) c.1887A>T c.2074A>T (p.Thr692Ser) c.*5283A>T (n.*5283A>T) c.*14A>T (n.*14A>T) c.430A>T (p.Thr144Ser) c.973A>T (p.Thr325Ser) c.199A>T (p.Thr67Ser) n.5636A>T n.5677A>T | ClinVar dbSNP |
17 | g.43045770T>C | CA10590309 | BRCA1 | c.5497A>G (p.Thr1833Ala) c.5500A>G (p.Thr1834Ala) c.5374A>G (p.Thr1792Ala) c.5494A>G (p.Thr1832Ala) c.5422A>G (p.Thr1808Ala) c.2188A>G (p.Thr730Ala) c.2050A>G (p.Thr684Ala) c.4612A>G (p.Thr1538Ala) c.5377A>G (p.Thr1793Ala) c.5566A>G (p.Thr1856Ala) c.5359A>G (p.Thr1787Ala) c.2062A>G (p.Thr688Ala) n.1383A>G n.864A>G c.5563A>G (p.Thr1855Ala) c.1887A>G c.2074A>G (p.Thr692Ala) c.*5283A>G (n.*5283A>G) c.*14A>G (n.*14A>G) c.430A>G (p.Thr144Ala) c.973A>G (p.Thr325Ala) c.199A>G (p.Thr67Ala) n.5636A>G n.5677A>G | ClinVar dbSNP |
17 | g.43045770T>G | CA10590310 | BRCA1 | c.5497A>C (p.Thr1833Pro) c.5500A>C (p.Thr1834Pro) c.5374A>C (p.Thr1792Pro) c.5494A>C (p.Thr1832Pro) c.5422A>C (p.Thr1808Pro) c.2188A>C (p.Thr730Pro) c.2050A>C (p.Thr684Pro) c.4612A>C (p.Thr1538Pro) c.5377A>C (p.Thr1793Pro) c.5566A>C (p.Thr1856Pro) c.5359A>C (p.Thr1787Pro) c.2062A>C (p.Thr688Pro) n.1383A>C n.864A>C c.5563A>C (p.Thr1855Pro) c.1887A>C c.2074A>C (p.Thr692Pro) c.*5283A>C (n.*5283A>C) c.*14A>C (n.*14A>C) c.430A>C (p.Thr144Pro) c.973A>C (p.Thr325Pro) c.199A>C (p.Thr67Pro) n.5636A>C n.5677A>C | ClinVar dbSNP |
17 | g.43045770T= | CA2260761123 | BRCA1 | c.5497A= (p.Thr1833=) c.5500A= (p.Thr1834=) c.5374A= (p.Thr1792=) c.5494A= (p.Thr1832=) c.5422A= (p.Thr1808=) c.2188A= (p.Thr730=) c.2050A= (p.Thr684=) c.4612A= (p.Thr1538=) c.5377A= (p.Thr1793=) c.5566A= (p.Thr1856=) c.5359A= (p.Thr1787=) c.2062A= (p.Thr688=) n.1383A= n.864A= c.5563A= (p.Thr1855=) c.1887A= c.2074A= (p.Thr692=) c.*5283A= (n.*5283A=) c.*14A= (n.*14A=) c.430A= (p.Thr144=) c.973A= (p.Thr325=) c.199A= (p.Thr67=) n.5636A= n.5677A= | |
17 | g.43045770_43045774delinsTCACC | CA2260761122 | BRCA1 | c.5493_5497delinsGGTGA (p.Val1831=) c.5496_5500delinsGGTGA (p.Val1832=) c.5370_5374delinsGGTGA (p.Val1790=) c.5490_5494delinsGGTGA (p.Val1830=) c.5418_5422delinsGGTGA (p.Val1806=) c.2184_2188delinsGGTGA (p.Val728=) c.2046_2050delinsGGTGA (p.Val682=) c.4608_4612delinsGGTGA (p.Val1536=) c.5373_5377delinsGGTGA (p.Val1791=) c.5562_5566delinsGGTGA (p.Val1854=) c.5355_5359delinsGGTGA (p.Val1785=) c.2058_2062delinsGGTGA (p.Val686=) n.1379_1383delinsGGTGA n.860_864delinsGGTGA c.5559_5563delinsGGTGA (p.Val1853=) c.1883_1887delinsGGTGA c.2070_2074delinsGGTGA (p.Val690=) c.*5279_*5283delinsGGTGA (n.*5279_*5283delinsGGTGA) c.*10_*14delinsGGTGA (n.*10_*14delinsGGTGA) c.426_430delinsGGTGA (p.Val142=) c.969_973delinsGGTGA (p.Val323=) c.195_199delinsGGTGA (p.Val65=) n.5632_5636delinsGGTGA n.5673_5677delinsGGTGA | |
17 | g.43045771C>A | CA500142922 | BRCA1 | c.5496G>T (p.Val1832=) c.5499G>T (p.Val1833=) c.5373G>T (p.Val1791=) c.5493G>T (p.Val1831=) c.5421G>T (p.Val1807=) c.2187G>T (p.Val729=) c.2049G>T (p.Val683=) c.4611G>T (p.Val1537=) c.5376G>T (p.Val1792=) c.5565G>T (p.Val1855=) c.5358G>T (p.Val1786=) c.2061G>T (p.Val687=) n.1382G>T n.863G>T c.5562G>T (p.Val1854=) c.1886G>T c.2073G>T (p.Val691=) c.*5282G>T (n.*5282G>T) c.*13G>T (n.*13G>T) c.429G>T (p.Val143=) c.972G>T (p.Val324=) c.198G>T (p.Val66=) n.5635G>T n.5676G>T | ClinVar dbSNP |
17 | g.43045771C= | CA2260761124 | BRCA1 | c.5496G= (p.Val1832=) c.5499G= (p.Val1833=) c.5373G= (p.Val1791=) c.5493G= (p.Val1831=) c.5421G= (p.Val1807=) c.2187G= (p.Val729=) c.2049G= (p.Val683=) c.4611G= (p.Val1537=) c.5376G= (p.Val1792=) c.5565G= (p.Val1855=) c.5358G= (p.Val1786=) c.2061G= (p.Val687=) n.1382G= n.863G= c.5562G= (p.Val1854=) c.1886G= c.2073G= (p.Val691=) c.*5282G= (n.*5282G=) c.*13G= (n.*13G=) c.429G= (p.Val143=) c.972G= (p.Val324=) c.198G= (p.Val66=) n.5635G= n.5676G= | |
17 | g.43045771C>G | CA500142919 | BRCA1 | c.5496G>C (p.Val1832=) c.5499G>C (p.Val1833=) c.5373G>C (p.Val1791=) c.5493G>C (p.Val1831=) c.5421G>C (p.Val1807=) c.2187G>C (p.Val729=) c.2049G>C (p.Val683=) c.4611G>C (p.Val1537=) c.5376G>C (p.Val1792=) c.5565G>C (p.Val1855=) c.5358G>C (p.Val1786=) c.2061G>C (p.Val687=) n.1382G>C n.863G>C c.5562G>C (p.Val1854=) c.1886G>C c.2073G>C (p.Val691=) c.*5282G>C (n.*5282G>C) c.*13G>C (n.*13G>C) c.429G>C (p.Val143=) c.972G>C (p.Val324=) c.198G>C (p.Val66=) n.5635G>C n.5676G>C | ClinVar dbSNP |
17 | g.43045771C>T | CA500142920 | BRCA1 | c.5496G>A (p.Val1832=) c.5499G>A (p.Val1833=) c.5373G>A (p.Val1791=) c.5493G>A (p.Val1831=) c.5421G>A (p.Val1807=) c.2187G>A (p.Val729=) c.2049G>A (p.Val683=) c.4611G>A (p.Val1537=) c.5376G>A (p.Val1792=) c.5565G>A (p.Val1855=) c.5358G>A (p.Val1786=) c.2061G>A (p.Val687=) n.1382G>A n.863G>A c.5562G>A (p.Val1854=) c.1886G>A c.2073G>A (p.Val691=) c.*5282G>A (n.*5282G>A) c.*13G>A (n.*13G>A) c.429G>A (p.Val143=) c.972G>A (p.Val324=) c.198G>A (p.Val66=) n.5635G>A n.5676G>A | ClinVar dbSNP |
17 | g.43045771_43045774del | CA10581594 | BRCA1 | c.5493_5496del (p.Val1832ProfsTer9) c.5496_5499del (p.Val1833ProfsTer9) c.5370_5373del (p.Val1791ProfsTer9) c.5490_5493del (p.Val1831ProfsTer9) c.5418_5421del (p.Val1807ProfsTer9) c.2184_2187del (p.Val729ProfsTer9) c.2046_2049del (p.Val683ProfsTer9) c.4608_4611del (p.Val1537ProfsTer9) c.5373_5376del (p.Val1792ProfsTer9) c.5562_5565del (p.Val1855ProfsTer9) c.5355_5358del (p.Val1786ProfsTer9) c.2058_2061del (p.Val687ProfsTer9) n.1379_1382del n.860_863del c.5559_5562del (p.Val1854ProfsTer9) c.1883_1886del c.2070_2073del (p.Val691ProfsTer9) c.*5279_*5282del (n.*5279_*5282del) c.*10_*13del (n.*10_*13del) c.426_429del (p.Val143ProfsTer9) c.969_972del (p.Val324ProfsTer9) c.195_198del (p.Val66ProfsTer9) n.5632_5635del n.5673_5676del | ClinVar dbSNP |
17 | g.43045772A= | CA2260761125 | BRCA1 | c.5495T= (p.Val1832=) c.5498T= (p.Val1833=) c.5372T= (p.Val1791=) c.5492T= (p.Val1831=) c.5420T= (p.Val1807=) c.2186T= (p.Val729=) c.2048T= (p.Val683=) c.4610T= (p.Val1537=) c.5375T= (p.Val1792=) c.5564T= (p.Val1855=) c.5357T= (p.Val1786=) c.2060T= (p.Val687=) n.1381T= n.862T= c.5561T= (p.Val1854=) c.1885T= c.2072T= (p.Val691=) c.*5281T= (n.*5281T=) c.*12T= (n.*12T=) c.428T= (p.Val143=) c.971T= (p.Val324=) c.197T= (p.Val66=) n.5634T= n.5675T= | |
17 | g.43045772A>C | CA10590311 | BRCA1 | c.5495T>G (p.Val1832Gly) c.5498T>G (p.Val1833Gly) c.5372T>G (p.Val1791Gly) c.5492T>G (p.Val1831Gly) c.5420T>G (p.Val1807Gly) c.2186T>G (p.Val729Gly) c.2048T>G (p.Val683Gly) c.4610T>G (p.Val1537Gly) c.5375T>G (p.Val1792Gly) c.5564T>G (p.Val1855Gly) c.5357T>G (p.Val1786Gly) c.2060T>G (p.Val687Gly) n.1381T>G n.862T>G c.5561T>G (p.Val1854Gly) c.1885T>G c.2072T>G (p.Val691Gly) c.*5281T>G (n.*5281T>G) c.*12T>G (n.*12T>G) c.428T>G (p.Val143Gly) c.971T>G (p.Val324Gly) c.197T>G (p.Val66Gly) n.5634T>G n.5675T>G | ClinVar |
17 | g.43045772A>G | CA003670 | BRCA1 | c.5495T>C (p.Val1832Ala) c.5498T>C (p.Val1833Ala) c.5372T>C (p.Val1791Ala) c.5492T>C (p.Val1831Ala) c.5420T>C (p.Val1807Ala) c.2186T>C (p.Val729Ala) c.2048T>C (p.Val683Ala) c.4610T>C (p.Val1537Ala) c.5375T>C (p.Val1792Ala) c.5564T>C (p.Val1855Ala) c.5357T>C (p.Val1786Ala) c.2060T>C (p.Val687Ala) n.1381T>C n.862T>C c.5561T>C (p.Val1854Ala) c.1885T>C c.2072T>C (p.Val691Ala) c.*5281T>C (n.*5281T>C) c.*12T>C (n.*12T>C) c.428T>C (p.Val143Ala) c.971T>C (p.Val324Ala) c.197T>C (p.Val66Ala) n.5634T>C n.5675T>C | ClinVar dbSNP |
17 | g.43045772A>T | CA10590312 | BRCA1 | c.5495T>A (p.Val1832Glu) c.5498T>A (p.Val1833Glu) c.5372T>A (p.Val1791Glu) c.5492T>A (p.Val1831Glu) c.5420T>A (p.Val1807Glu) c.2186T>A (p.Val729Glu) c.2048T>A (p.Val683Glu) c.4610T>A (p.Val1537Glu) c.5375T>A (p.Val1792Glu) c.5564T>A (p.Val1855Glu) c.5357T>A (p.Val1786Glu) c.2060T>A (p.Val687Glu) n.1381T>A n.862T>A c.5561T>A (p.Val1854Glu) c.1885T>A c.2072T>A (p.Val691Glu) c.*5281T>A (n.*5281T>A) c.*12T>A (n.*12T>A) c.428T>A (p.Val143Glu) c.971T>A (p.Val324Glu) c.197T>A (p.Val66Glu) n.5634T>A n.5675T>A | ClinVar dbSNP |
17 | g.43045773C>A | CA10590313 | BRCA1 | c.5494G>T (p.Val1832Leu) c.5497G>T (p.Val1833Leu) c.5371G>T (p.Val1791Leu) c.5491G>T (p.Val1831Leu) c.5419G>T (p.Val1807Leu) c.2185G>T (p.Val729Leu) c.2047G>T (p.Val683Leu) c.4609G>T (p.Val1537Leu) c.5374G>T (p.Val1792Leu) c.5563G>T (p.Val1855Leu) c.5356G>T (p.Val1786Leu) c.2059G>T (p.Val687Leu) n.1380G>T n.861G>T c.5560G>T (p.Val1854Leu) c.1884G>T c.2071G>T (p.Val691Leu) c.*5280G>T (n.*5280G>T) c.*11G>T (n.*11G>T) c.427G>T (p.Val143Leu) c.970G>T (p.Val324Leu) c.196G>T (p.Val66Leu) n.5633G>T n.5674G>T | ClinVar gnomAD v4 |
17 | g.43045773C= | CA2260761126 | BRCA1 | c.5494G= (p.Val1832=) c.5497G= (p.Val1833=) c.5371G= (p.Val1791=) c.5491G= (p.Val1831=) c.5419G= (p.Val1807=) c.2185G= (p.Val729=) c.2047G= (p.Val683=) c.4609G= (p.Val1537=) c.5374G= (p.Val1792=) c.5563G= (p.Val1855=) c.5356G= (p.Val1786=) c.2059G= (p.Val687=) n.1380G= n.861G= c.5560G= (p.Val1854=) c.1884G= c.2071G= (p.Val691=) c.*5280G= (n.*5280G=) c.*11G= (n.*11G=) c.427G= (p.Val143=) c.970G= (p.Val324=) c.196G= (p.Val66=) n.5633G= n.5674G= | |
17 | g.43045773C>G | CA10590314 | BRCA1 | c.5494G>C (p.Val1832Leu) c.5497G>C (p.Val1833Leu) c.5371G>C (p.Val1791Leu) c.5491G>C (p.Val1831Leu) c.5419G>C (p.Val1807Leu) c.2185G>C (p.Val729Leu) c.2047G>C (p.Val683Leu) c.4609G>C (p.Val1537Leu) c.5374G>C (p.Val1792Leu) c.5563G>C (p.Val1855Leu) c.5356G>C (p.Val1786Leu) c.2059G>C (p.Val687Leu) n.1380G>C n.861G>C c.5560G>C (p.Val1854Leu) c.1884G>C c.2071G>C (p.Val691Leu) c.*5280G>C (n.*5280G>C) c.*11G>C (n.*11G>C) c.427G>C (p.Val143Leu) c.970G>C (p.Val324Leu) c.196G>C (p.Val66Leu) n.5633G>C n.5674G>C | ClinVar dbSNP |
17 | g.43045773C>T | CA003667 | BRCA1 | c.5494G>A (p.Val1832Met) c.5497G>A (p.Val1833Met) c.5371G>A (p.Val1791Met) c.5491G>A (p.Val1831Met) c.5419G>A (p.Val1807Met) c.2185G>A (p.Val729Met) c.2047G>A (p.Val683Met) c.4609G>A (p.Val1537Met) c.5374G>A (p.Val1792Met) c.5563G>A (p.Val1855Met) c.5356G>A (p.Val1786Met) c.2059G>A (p.Val687Met) n.1380G>A n.861G>A c.5560G>A (p.Val1854Met) c.1884G>A c.2071G>A (p.Val691Met) c.*5280G>A (n.*5280G>A) c.*11G>A (n.*11G>A) c.427G>A (p.Val143Met) c.970G>A (p.Val324Met) c.196G>A (p.Val66Met) n.5633G>A n.5674G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43045774del | CA2573153996 | BRCA1 | c.5494del (p.Val1832Ter) c.5497del (p.Val1833Ter) c.5371del (p.Val1791Ter) c.5491del (p.Val1831Ter) c.5419del (p.Val1807Ter) c.2185del (p.Val729Ter) c.2047del (p.Val683Ter) c.4609del (p.Val1537Ter) c.5374del (p.Val1792Ter) c.5563del (p.Val1855Ter) c.5356del (p.Val1786Ter) c.2059del (p.Val687Ter) n.1380del n.861del c.5560del (p.Val1854Ter) c.1884del c.2071del (p.Val691Ter) c.*5280del (n.*5280del) c.*11del (n.*11del) c.427del (p.Val143Ter) c.970del (p.Val324Ter) c.196del (p.Val66Ter) n.5633del n.5674del | ClinVar dbSNP |
17 | g.43045774C>A | CA500142926 | BRCA1 | c.5493G>T (p.Val1831=) c.5496G>T (p.Val1832=) c.5370G>T (p.Val1790=) c.5490G>T (p.Val1830=) c.5418G>T (p.Val1806=) c.2184G>T (p.Val728=) c.2046G>T (p.Val682=) c.4608G>T (p.Val1536=) c.5373G>T (p.Val1791=) c.5562G>T (p.Val1854=) c.5355G>T (p.Val1785=) c.2058G>T (p.Val686=) n.1379G>T n.860G>T c.5559G>T (p.Val1853=) c.1883G>T c.2070G>T (p.Val690=) c.*5279G>T (n.*5279G>T) c.*10G>T (n.*10G>T) c.426G>T (p.Val142=) c.969G>T (p.Val323=) c.195G>T (p.Val65=) n.5632G>T n.5673G>T | dbSNP |
17 | g.43045774C= | CA2260761127 | BRCA1 | c.5493G= (p.Val1831=) c.5496G= (p.Val1832=) c.5370G= (p.Val1790=) c.5490G= (p.Val1830=) c.5418G= (p.Val1806=) c.2184G= (p.Val728=) c.2046G= (p.Val682=) c.4608G= (p.Val1536=) c.5373G= (p.Val1791=) c.5562G= (p.Val1854=) c.5355G= (p.Val1785=) c.2058G= (p.Val686=) n.1379G= n.860G= c.5559G= (p.Val1853=) c.1883G= c.2070G= (p.Val690=) c.*5279G= (n.*5279G=) c.*10G= (n.*10G=) c.426G= (p.Val142=) c.969G= (p.Val323=) c.195G= (p.Val65=) n.5632G= n.5673G= | |
17 | g.43045774C>G | CA500142927 | BRCA1 | c.5493G>C (p.Val1831=) c.5496G>C (p.Val1832=) c.5370G>C (p.Val1790=) c.5490G>C (p.Val1830=) c.5418G>C (p.Val1806=) c.2184G>C (p.Val728=) c.2046G>C (p.Val682=) c.4608G>C (p.Val1536=) c.5373G>C (p.Val1791=) c.5562G>C (p.Val1854=) c.5355G>C (p.Val1785=) c.2058G>C (p.Val686=) n.1379G>C n.860G>C c.5559G>C (p.Val1853=) c.1883G>C c.2070G>C (p.Val690=) c.*5279G>C (n.*5279G>C) c.*10G>C (n.*10G>C) c.426G>C (p.Val142=) c.969G>C (p.Val323=) c.195G>C (p.Val65=) n.5632G>C n.5673G>C | dbSNP |
17 | g.43045774C>T | CA500142928 | BRCA1 | c.5493G>A (p.Val1831=) c.5496G>A (p.Val1832=) c.5370G>A (p.Val1790=) c.5490G>A (p.Val1830=) c.5418G>A (p.Val1806=) c.2184G>A (p.Val728=) c.2046G>A (p.Val682=) c.4608G>A (p.Val1536=) c.5373G>A (p.Val1791=) c.5562G>A (p.Val1854=) c.5355G>A (p.Val1785=) c.2058G>A (p.Val686=) n.1379G>A n.860G>A c.5559G>A (p.Val1853=) c.1883G>A c.2070G>A (p.Val690=) c.*5279G>A (n.*5279G>A) c.*10G>A (n.*10G>A) c.426G>A (p.Val142=) c.969G>A (p.Val323=) c.195G>A (p.Val65=) n.5632G>A n.5673G>A | ClinVar dbSNP |
17 | g.43045778_43045790del | CA2695201336 | BRCA1 | c.5481_5493del (p.Cys1827TrpfsTer2) c.5484_5496del (p.Cys1828TrpfsTer2) c.5358_5370del (p.Cys1786TrpfsTer2) c.5478_5490del (p.Cys1826TrpfsTer2) c.5406_5418del (p.Cys1802TrpfsTer2) c.2172_2184del (p.Cys724TrpfsTer2) c.2034_2046del (p.Cys678TrpfsTer2) c.4596_4608del (p.Cys1532TrpfsTer2) c.5361_5373del (p.Cys1787TrpfsTer2) c.5550_5562del (p.Cys1850TrpfsTer2) c.5343_5355del (p.Cys1781TrpfsTer2) c.2046_2058del (p.Cys682TrpfsTer2) n.1367_1379del n.848_860del c.5547_5559del (p.Cys1849TrpfsTer2) c.1871_1883del c.2058_2070del (p.Cys686TrpfsTer2) c.*5267_*5279del (n.*5267_*5279del) c.2098_*10del (n.[c.2098_*10del;Ter700ValextTer?]) c.414_426del (p.Cys138TrpfsTer2) c.957_969del (p.Cys319TrpfsTer2) c.183_195del (p.Cys61TrpfsTer2) n.5620_5632del n.5661_5673del | ClinVar |
17 | g.43045775A= | CA2260761128 | BRCA1 | c.5492T= (p.Val1831=) c.5495T= (p.Val1832=) c.5369T= (p.Val1790=) c.5489T= (p.Val1830=) c.5417T= (p.Val1806=) c.2183T= (p.Val728=) c.2045T= (p.Val682=) c.4607T= (p.Val1536=) c.5372T= (p.Val1791=) c.5561T= (p.Val1854=) c.5354T= (p.Val1785=) c.2057T= (p.Val686=) n.1378T= n.859T= c.5558T= (p.Val1853=) c.1882T= c.2069T= (p.Val690=) c.*5278T= (n.*5278T=) c.*9T= (n.*9T=) c.425T= (p.Val142=) c.968T= (p.Val323=) c.194T= (p.Val65=) n.5631T= n.5672T= | |
17 | g.43045775A>C | CA10590315 | BRCA1 | c.5492T>G (p.Val1831Gly) c.5495T>G (p.Val1832Gly) c.5369T>G (p.Val1790Gly) c.5489T>G (p.Val1830Gly) c.5417T>G (p.Val1806Gly) c.2183T>G (p.Val728Gly) c.2045T>G (p.Val682Gly) c.4607T>G (p.Val1536Gly) c.5372T>G (p.Val1791Gly) c.5561T>G (p.Val1854Gly) c.5354T>G (p.Val1785Gly) c.2057T>G (p.Val686Gly) n.1378T>G n.859T>G c.5558T>G (p.Val1853Gly) c.1882T>G c.2069T>G (p.Val690Gly) c.*5278T>G (n.*5278T>G) c.*9T>G (n.*9T>G) c.425T>G (p.Val142Gly) c.968T>G (p.Val323Gly) c.194T>G (p.Val65Gly) n.5631T>G n.5672T>G | ClinVar dbSNP |
17 | g.43045775A>G | CA055224 | BRCA1 | c.5492T>C (p.Val1831Ala) c.5495T>C (p.Val1832Ala) c.5369T>C (p.Val1790Ala) c.5489T>C (p.Val1830Ala) c.5417T>C (p.Val1806Ala) c.2183T>C (p.Val728Ala) c.2045T>C (p.Val682Ala) c.4607T>C (p.Val1536Ala) c.5372T>C (p.Val1791Ala) c.5561T>C (p.Val1854Ala) c.5354T>C (p.Val1785Ala) c.2057T>C (p.Val686Ala) n.1378T>C n.859T>C c.5558T>C (p.Val1853Ala) c.1882T>C c.2069T>C (p.Val690Ala) c.*5278T>C (n.*5278T>C) c.*9T>C (n.*9T>C) c.425T>C (p.Val142Ala) c.968T>C (p.Val323Ala) c.194T>C (p.Val65Ala) n.5631T>C n.5672T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045775A>T | CA10590316 | BRCA1 | c.5492T>A (p.Val1831Glu) c.5495T>A (p.Val1832Glu) c.5369T>A (p.Val1790Glu) c.5489T>A (p.Val1830Glu) c.5417T>A (p.Val1806Glu) c.2183T>A (p.Val728Glu) c.2045T>A (p.Val682Glu) c.4607T>A (p.Val1536Glu) c.5372T>A (p.Val1791Glu) c.5561T>A (p.Val1854Glu) c.5354T>A (p.Val1785Glu) c.2057T>A (p.Val686Glu) n.1378T>A n.859T>A c.5558T>A (p.Val1853Glu) c.1882T>A c.2069T>A (p.Val690Glu) c.*5278T>A (n.*5278T>A) c.*9T>A (n.*9T>A) c.425T>A (p.Val142Glu) c.968T>A (p.Val323Glu) c.194T>A (p.Val65Glu) n.5631T>A n.5672T>A | dbSNP |
17 | g.43045775_43045776insAA | CA658824708 | BRCA1 | c.5492_5493insTT (p.Val1832TrpfsTer2) c.5495_5496insTT (p.Val1833TrpfsTer2) c.5369_5370insTT (p.Val1791TrpfsTer2) c.5489_5490insTT (p.Val1831TrpfsTer2) c.5417_5418insTT (p.Val1807TrpfsTer2) c.2183_2184insTT (p.Val729TrpfsTer2) c.2045_2046insTT (p.Val683TrpfsTer2) c.4607_4608insTT (p.Val1537TrpfsTer2) c.5372_5373insTT (p.Val1792TrpfsTer2) c.5561_5562insTT (p.Val1855TrpfsTer2) c.5354_5355insTT (p.Val1786TrpfsTer2) c.2057_2058insTT (p.Val687TrpfsTer2) n.1378_1379insTT n.859_860insTT c.5558_5559insTT (p.Val1854TrpfsTer2) c.1882_1883insTT c.2069_2070insTT (p.Val691TrpfsTer2) c.*5278_*5279insTT (n.*5278_*5279insTT) c.*9_*10insTT (n.*9_*10insTT) c.425_426insTT (p.Val143TrpfsTer2) c.968_969insTT (p.Val324TrpfsTer2) c.194_195insTT (p.Val66TrpfsTer2) n.5631_5632insTT n.5672_5673insTT | ClinVar dbSNP |
17 | g.43045776C>A | CA10590317 | BRCA1 | c.5491G>T (p.Val1831Leu) c.5494G>T (p.Val1832Leu) c.5368G>T (p.Val1790Leu) c.5488G>T (p.Val1830Leu) c.5416G>T (p.Val1806Leu) c.2182G>T (p.Val728Leu) c.2044G>T (p.Val682Leu) c.4606G>T (p.Val1536Leu) c.5371G>T (p.Val1791Leu) c.5560G>T (p.Val1854Leu) c.5353G>T (p.Val1785Leu) c.2056G>T (p.Val686Leu) n.1377G>T n.858G>T c.5557G>T (p.Val1853Leu) c.1881G>T c.2068G>T (p.Val690Leu) c.*5277G>T (n.*5277G>T) c.*8G>T (n.*8G>T) c.424G>T (p.Val142Leu) c.967G>T (p.Val323Leu) c.193G>T (p.Val65Leu) n.5630G>T n.5671G>T | |
17 | g.43045776C= | CA2260761129 | BRCA1 | c.5491G= (p.Val1831=) c.5494G= (p.Val1832=) c.5368G= (p.Val1790=) c.5488G= (p.Val1830=) c.5416G= (p.Val1806=) c.2182G= (p.Val728=) c.2044G= (p.Val682=) c.4606G= (p.Val1536=) c.5371G= (p.Val1791=) c.5560G= (p.Val1854=) c.5353G= (p.Val1785=) c.2056G= (p.Val686=) n.1377G= n.858G= c.5557G= (p.Val1853=) c.1881G= c.2068G= (p.Val690=) c.*5277G= (n.*5277G=) c.*8G= (n.*8G=) c.424G= (p.Val142=) c.967G= (p.Val323=) c.193G= (p.Val65=) n.5630G= n.5671G= | |
17 | g.43045776C>G | CA10590318 | BRCA1 | c.5491G>C (p.Val1831Leu) c.5494G>C (p.Val1832Leu) c.5368G>C (p.Val1790Leu) c.5488G>C (p.Val1830Leu) c.5416G>C (p.Val1806Leu) c.2182G>C (p.Val728Leu) c.2044G>C (p.Val682Leu) c.4606G>C (p.Val1536Leu) c.5371G>C (p.Val1791Leu) c.5560G>C (p.Val1854Leu) c.5353G>C (p.Val1785Leu) c.2056G>C (p.Val686Leu) n.1377G>C n.858G>C c.5557G>C (p.Val1853Leu) c.1881G>C c.2068G>C (p.Val690Leu) c.*5277G>C (n.*5277G>C) c.*8G>C (n.*8G>C) c.424G>C (p.Val142Leu) c.967G>C (p.Val323Leu) c.193G>C (p.Val65Leu) n.5630G>C n.5671G>C | ClinVar dbSNP |
17 | g.43045776C>T | CA10590319 | BRCA1 | c.5491G>A (p.Val1831Met) c.5494G>A (p.Val1832Met) c.5368G>A (p.Val1790Met) c.5488G>A (p.Val1830Met) c.5416G>A (p.Val1806Met) c.2182G>A (p.Val728Met) c.2044G>A (p.Val682Met) c.4606G>A (p.Val1536Met) c.5371G>A (p.Val1791Met) c.5560G>A (p.Val1854Met) c.5353G>A (p.Val1785Met) c.2056G>A (p.Val686Met) n.1377G>A n.858G>A c.5557G>A (p.Val1853Met) c.1881G>A c.2068G>A (p.Val690Met) c.*5277G>A (n.*5277G>A) c.*8G>A (n.*8G>A) c.424G>A (p.Val142Met) c.967G>A (p.Val323Met) c.193G>A (p.Val65Met) n.5630G>A n.5671G>A | ClinVar dbSNP |
17 | g.43045777A= | CA2260761131 | BRCA1 | c.5490T= (p.Pro1830=) c.5493T= (p.Pro1831=) c.5367T= (p.Pro1789=) c.5487T= (p.Pro1829=) c.5415T= (p.Pro1805=) c.2181T= (p.Pro727=) c.2043T= (p.Pro681=) c.4605T= (p.Pro1535=) c.5370T= (p.Pro1790=) c.5559T= (p.Pro1853=) c.5352T= (p.Pro1784=) c.2055T= (p.Pro685=) n.1376T= n.857T= c.5556T= (p.Pro1852=) c.1880T= c.2067T= (p.Pro689=) c.*5276T= (n.*5276T=) c.*7T= (n.*7T=) c.423T= (p.Pro141=) c.966T= (p.Pro322=) c.192T= (p.Pro64=) n.5629T= n.5670T= | |
17 | g.43045777A>C | CA500142938 | BRCA1 | c.5490T>G (p.Pro1830=) c.5493T>G (p.Pro1831=) c.5367T>G (p.Pro1789=) c.5487T>G (p.Pro1829=) c.5415T>G (p.Pro1805=) c.2181T>G (p.Pro727=) c.2043T>G (p.Pro681=) c.4605T>G (p.Pro1535=) c.5370T>G (p.Pro1790=) c.5559T>G (p.Pro1853=) c.5352T>G (p.Pro1784=) c.2055T>G (p.Pro685=) n.1376T>G n.857T>G c.5556T>G (p.Pro1852=) c.1880T>G c.2067T>G (p.Pro689=) c.*5276T>G (n.*5276T>G) c.*7T>G (n.*7T>G) c.423T>G (p.Pro141=) c.966T>G (p.Pro322=) c.192T>G (p.Pro64=) n.5629T>G n.5670T>G | ClinVar dbSNP |
17 | g.43045777A>G | CA500142935 | BRCA1 | c.5490T>C (p.Pro1830=) c.5493T>C (p.Pro1831=) c.5367T>C (p.Pro1789=) c.5487T>C (p.Pro1829=) c.5415T>C (p.Pro1805=) c.2181T>C (p.Pro727=) c.2043T>C (p.Pro681=) c.4605T>C (p.Pro1535=) c.5370T>C (p.Pro1790=) c.5559T>C (p.Pro1853=) c.5352T>C (p.Pro1784=) c.2055T>C (p.Pro685=) n.1376T>C n.857T>C c.5556T>C (p.Pro1852=) c.1880T>C c.2067T>C (p.Pro689=) c.*5276T>C (n.*5276T>C) c.*7T>C (n.*7T>C) c.423T>C (p.Pro141=) c.966T>C (p.Pro322=) c.192T>C (p.Pro64=) n.5629T>C n.5670T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43045777A>T | CA500142937 | BRCA1 | c.5490T>A (p.Pro1830=) c.5493T>A (p.Pro1831=) c.5367T>A (p.Pro1789=) c.5487T>A (p.Pro1829=) c.5415T>A (p.Pro1805=) c.2181T>A (p.Pro727=) c.2043T>A (p.Pro681=) c.4605T>A (p.Pro1535=) c.5370T>A (p.Pro1790=) c.5559T>A (p.Pro1853=) c.5352T>A (p.Pro1784=) c.2055T>A (p.Pro685=) n.1376T>A n.857T>A c.5556T>A (p.Pro1852=) c.1880T>A c.2067T>A (p.Pro689=) c.*5276T>A (n.*5276T>A) c.*7T>A (n.*7T>A) c.423T>A (p.Pro141=) c.966T>A (p.Pro322=) c.192T>A (p.Pro64=) n.5629T>A n.5670T>A | ClinVar dbSNP |
17 | g.43045777_43045778insAA | CA10589590 | BRCA1 | c.5490_5491insTT (p.Val1831LeufsTer3) c.5493_5494insTT (p.Val1832LeufsTer3) c.5367_5368insTT (p.Val1790LeufsTer3) c.5487_5488insTT (p.Val1830LeufsTer3) c.5415_5416insTT (p.Val1806LeufsTer3) c.2181_2182insTT (p.Val728LeufsTer3) c.2043_2044insTT (p.Val682LeufsTer3) c.4605_4606insTT (p.Val1536LeufsTer3) c.5370_5371insTT (p.Val1791LeufsTer3) c.5559_5560insTT (p.Val1854LeufsTer3) c.5352_5353insTT (p.Val1785LeufsTer3) c.2055_2056insTT (p.Val686LeufsTer3) n.1376_1377insTT n.857_858insTT c.5556_5557insTT (p.Val1853LeufsTer3) c.1880_1881insTT c.2067_2068insTT (p.Val690LeufsTer3) c.*5276_*5277insTT (n.*5276_*5277insTT) c.*7_*8insTT (n.*7_*8insTT) c.423_424insTT (p.Val142LeufsTer3) c.966_967insTT (p.Val323LeufsTer3) c.192_193insTT (p.Val65LeufsTer3) n.5629_5630insTT n.5670_5671insTT | ClinVar dbSNP |
17 | g.43045777_43045778delinsAG | CA2260761130 | BRCA1 | c.5489_5490delinsCT (p.Pro1830=) c.5492_5493delinsCT (p.Pro1831=) c.5366_5367delinsCT (p.Pro1789=) c.5486_5487delinsCT (p.Pro1829=) c.5414_5415delinsCT (p.Pro1805=) c.2180_2181delinsCT (p.Pro727=) c.2042_2043delinsCT (p.Pro681=) c.4604_4605delinsCT (p.Pro1535=) c.5369_5370delinsCT (p.Pro1790=) c.5558_5559delinsCT (p.Pro1853=) c.5351_5352delinsCT (p.Pro1784=) c.2054_2055delinsCT (p.Pro685=) n.1375_1376delinsCT n.856_857delinsCT c.5555_5556delinsCT (p.Pro1852=) c.1879_1880delinsCT c.2066_2067delinsCT (p.Pro689=) c.*5275_*5276delinsCT (n.*5275_*5276delinsCT) c.*6_*7delinsCT (n.*6_*7delinsCT) c.422_423delinsCT (p.Pro141=) c.965_966delinsCT (p.Pro322=) c.191_192delinsCT (p.Pro64=) n.5628_5629delinsCT n.5669_5670delinsCT | |
17 | g.43045778G>A | CA10590320 | BRCA1 | c.5489C>T (p.Pro1830Leu) c.5492C>T (p.Pro1831Leu) c.5366C>T (p.Pro1789Leu) c.5486C>T (p.Pro1829Leu) c.5414C>T (p.Pro1805Leu) c.2180C>T (p.Pro727Leu) c.2042C>T (p.Pro681Leu) c.4604C>T (p.Pro1535Leu) c.5369C>T (p.Pro1790Leu) c.5558C>T (p.Pro1853Leu) c.5351C>T (p.Pro1784Leu) c.2054C>T (p.Pro685Leu) n.1375C>T n.856C>T c.5555C>T (p.Pro1852Leu) c.1879C>T c.2066C>T (p.Pro689Leu) c.*5275C>T (n.*5275C>T) c.*6C>T (n.*6C>T) c.422C>T (p.Pro141Leu) c.965C>T (p.Pro322Leu) c.191C>T (p.Pro64Leu) n.5628C>T n.5669C>T | ClinVar dbSNP COSMIC COSMIC |
17 | g.43045778G>C | CA003662 | BRCA1 | c.5489C>G (p.Pro1830Arg) c.5492C>G (p.Pro1831Arg) c.5366C>G (p.Pro1789Arg) c.5486C>G (p.Pro1829Arg) c.5414C>G (p.Pro1805Arg) c.2180C>G (p.Pro727Arg) c.2042C>G (p.Pro681Arg) c.4604C>G (p.Pro1535Arg) c.5369C>G (p.Pro1790Arg) c.5558C>G (p.Pro1853Arg) c.5351C>G (p.Pro1784Arg) c.2054C>G (p.Pro685Arg) n.1375C>G n.856C>G c.5555C>G (p.Pro1852Arg) c.1879C>G c.2066C>G (p.Pro689Arg) c.*5275C>G (n.*5275C>G) c.*6C>G (n.*6C>G) c.422C>G (p.Pro141Arg) c.965C>G (p.Pro322Arg) c.191C>G (p.Pro64Arg) n.5628C>G n.5669C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43045778G= | CA2260761132 | BRCA1 | c.5489C= (p.Pro1830=) c.5492C= (p.Pro1831=) c.5366C= (p.Pro1789=) c.5486C= (p.Pro1829=) c.5414C= (p.Pro1805=) c.2180C= (p.Pro727=) c.2042C= (p.Pro681=) c.4604C= (p.Pro1535=) c.5369C= (p.Pro1790=) c.5558C= (p.Pro1853=) c.5351C= (p.Pro1784=) c.2054C= (p.Pro685=) n.1375C= n.856C= c.5555C= (p.Pro1852=) c.1879C= c.2066C= (p.Pro689=) c.*5275C= (n.*5275C=) c.*6C= (n.*6C=) c.422C= (p.Pro141=) c.965C= (p.Pro322=) c.191C= (p.Pro64=) n.5628C= n.5669C= | |
17 | g.43045778G>T | CA10590321 | BRCA1 | c.5489C>A (p.Pro1830His) c.5492C>A (p.Pro1831His) c.5366C>A (p.Pro1789His) c.5486C>A (p.Pro1829His) c.5414C>A (p.Pro1805His) c.2180C>A (p.Pro727His) c.2042C>A (p.Pro681His) c.4604C>A (p.Pro1535His) c.5369C>A (p.Pro1790His) c.5558C>A (p.Pro1853His) c.5351C>A (p.Pro1784His) c.2054C>A (p.Pro685His) n.1375C>A n.856C>A c.5555C>A (p.Pro1852His) c.1879C>A c.2066C>A (p.Pro689His) c.*5275C>A (n.*5275C>A) c.*6C>A (n.*6C>A) c.422C>A (p.Pro141His) c.965C>A (p.Pro322His) c.191C>A (p.Pro64His) n.5628C>A n.5669C>A | ClinVar dbSNP |
17 | g.43045779del | CA003663 | BRCA1 | c.5489del (p.Pro1830LeufsTer3) c.5492del (p.Pro1831LeufsTer3) c.5366del (p.Pro1789LeufsTer3) c.5486del (p.Pro1829LeufsTer3) c.5414del (p.Pro1805LeufsTer3) c.2180del (p.Pro727LeufsTer3) c.2042del (p.Pro681LeufsTer3) c.4604del (p.Pro1535LeufsTer3) c.5369del (p.Pro1790LeufsTer3) c.5558del (p.Pro1853LeufsTer3) c.5351del (p.Pro1784LeufsTer3) c.2054del (p.Pro685LeufsTer3) n.1375del n.856del c.5555del (p.Pro1852LeufsTer3) c.1879del c.2066del (p.Pro689LeufsTer3) c.*5275del (n.*5275del) c.*6del (n.*6del) c.422del (p.Pro141LeufsTer3) c.965del (p.Pro322LeufsTer3) c.191del (p.Pro64LeufsTer3) n.5628del n.5669del | ClinVar dbSNP |
17 | g.43045779G>A | CA10590322 | BRCA1 | c.5488C>T (p.Pro1830Ser) c.5491C>T (p.Pro1831Ser) c.5365C>T (p.Pro1789Ser) c.5485C>T (p.Pro1829Ser) c.5413C>T (p.Pro1805Ser) c.2179C>T (p.Pro727Ser) c.2041C>T (p.Pro681Ser) c.4603C>T (p.Pro1535Ser) c.5368C>T (p.Pro1790Ser) c.5557C>T (p.Pro1853Ser) c.5350C>T (p.Pro1784Ser) c.2053C>T (p.Pro685Ser) n.1374C>T n.855C>T c.5554C>T (p.Pro1852Ser) c.1878C>T c.2065C>T (p.Pro689Ser) c.*5274C>T (n.*5274C>T) c.*5C>T (n.*5C>T) c.421C>T (p.Pro141Ser) c.964C>T (p.Pro322Ser) c.190C>T (p.Pro64Ser) n.5627C>T n.5668C>T | ClinVar dbSNP |
17 | g.43045779G>C | CA10590323 | BRCA1 | c.5488C>G (p.Pro1830Ala) c.5491C>G (p.Pro1831Ala) c.5365C>G (p.Pro1789Ala) c.5485C>G (p.Pro1829Ala) c.5413C>G (p.Pro1805Ala) c.2179C>G (p.Pro727Ala) c.2041C>G (p.Pro681Ala) c.4603C>G (p.Pro1535Ala) c.5368C>G (p.Pro1790Ala) c.5557C>G (p.Pro1853Ala) c.5350C>G (p.Pro1784Ala) c.2053C>G (p.Pro685Ala) n.1374C>G n.855C>G c.5554C>G (p.Pro1852Ala) c.1878C>G c.2065C>G (p.Pro689Ala) c.*5274C>G (n.*5274C>G) c.*5C>G (n.*5C>G) c.421C>G (p.Pro141Ala) c.964C>G (p.Pro322Ala) c.190C>G (p.Pro64Ala) n.5627C>G n.5668C>G | ClinVar dbSNP |
17 | g.43045779G= | CA2260761133 | BRCA1 | c.5488C= (p.Pro1830=) c.5491C= (p.Pro1831=) c.5365C= (p.Pro1789=) c.5485C= (p.Pro1829=) c.5413C= (p.Pro1805=) c.2179C= (p.Pro727=) c.2041C= (p.Pro681=) c.4603C= (p.Pro1535=) c.5368C= (p.Pro1790=) c.5557C= (p.Pro1853=) c.5350C= (p.Pro1784=) c.2053C= (p.Pro685=) n.1374C= n.855C= c.5554C= (p.Pro1852=) c.1878C= c.2065C= (p.Pro689=) c.*5274C= (n.*5274C=) c.*5C= (n.*5C=) c.421C= (p.Pro141=) c.964C= (p.Pro322=) c.190C= (p.Pro64=) n.5627C= n.5668C= | |
17 | g.43045779G>T | CA055216 | BRCA1 | c.5488C>A (p.Pro1830Thr) c.5491C>A (p.Pro1831Thr) c.5365C>A (p.Pro1789Thr) c.5485C>A (p.Pro1829Thr) c.5413C>A (p.Pro1805Thr) c.2179C>A (p.Pro727Thr) c.2041C>A (p.Pro681Thr) c.4603C>A (p.Pro1535Thr) c.5368C>A (p.Pro1790Thr) c.5557C>A (p.Pro1853Thr) c.5350C>A (p.Pro1784Thr) c.2053C>A (p.Pro685Thr) n.1374C>A n.855C>A c.5554C>A (p.Pro1852Thr) c.1878C>A c.2065C>A (p.Pro689Thr) c.*5274C>A (n.*5274C>A) c.*5C>A (n.*5C>A) c.421C>A (p.Pro141Thr) c.964C>A (p.Pro322Thr) c.190C>A (p.Pro64Thr) n.5627C>A n.5668C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045779_43045780delinsGT | CA2260761134 | BRCA1 | c.5487_5488delinsAC (p.Ala1829=) c.5490_5491delinsAC (p.Ala1830=) c.5364_5365delinsAC (p.Ala1788=) c.5484_5485delinsAC (p.Ala1828=) c.5412_5413delinsAC (p.Ala1804=) c.2178_2179delinsAC (p.Ala726=) c.2040_2041delinsAC (p.Ala680=) c.4602_4603delinsAC (p.Ala1534=) c.5367_5368delinsAC (p.Ala1789=) c.5556_5557delinsAC (p.Ala1852=) c.5349_5350delinsAC (p.Ala1783=) c.2052_2053delinsAC (p.Ala684=) n.1373_1374delinsAC n.854_855delinsAC c.5553_5554delinsAC (p.Ala1851=) c.1877_1878delinsAC c.2064_2065delinsAC (p.Ala688=) c.*5273_*5274delinsAC (n.*5273_*5274delinsAC) c.*4_*5delinsAC (n.*4_*5delinsAC) c.420_421delinsAC (p.Ala140=) c.963_964delinsAC (p.Ala321=) c.189_190delinsAC (p.Ala63=) n.5626_5627delinsAC n.5667_5668delinsAC | |
17 | g.43045780del | CA003661 | BRCA1 | c.5487del (p.Pro1830LeufsTer3) c.5490del (p.Pro1831LeufsTer3) c.5364del (p.Pro1789LeufsTer3) c.5484del (p.Pro1829LeufsTer3) c.5412del (p.Pro1805LeufsTer3) c.2178del (p.Pro727LeufsTer3) c.2040del (p.Pro681LeufsTer3) c.4602del (p.Pro1535LeufsTer3) c.5367del (p.Pro1790LeufsTer3) c.5556del (p.Pro1853LeufsTer3) c.5349del (p.Pro1784LeufsTer3) c.2052del (p.Pro685LeufsTer3) n.1373del n.854del c.5553del (p.Pro1852LeufsTer3) c.1877del c.2064del (p.Pro689LeufsTer3) c.*5273del (n.*5273del) c.*4del (n.*4del) c.420del (p.Pro141LeufsTer3) c.963del (p.Pro322LeufsTer3) c.189del (p.Pro64LeufsTer3) n.5626del n.5667del | ClinVar dbSNP |
17 | g.43045780T>A | CA500142940 | BRCA1 | c.5487A>T (p.Ala1829=) c.5490A>T (p.Ala1830=) c.5364A>T (p.Ala1788=) c.5484A>T (p.Ala1828=) c.5412A>T (p.Ala1804=) c.2178A>T (p.Ala726=) c.2040A>T (p.Ala680=) c.4602A>T (p.Ala1534=) c.5367A>T (p.Ala1789=) c.5556A>T (p.Ala1852=) c.5349A>T (p.Ala1783=) c.2052A>T (p.Ala684=) n.1373A>T n.854A>T c.5553A>T (p.Ala1851=) c.1877A>T c.2064A>T (p.Ala688=) c.*5273A>T (n.*5273A>T) c.*4A>T (n.*4A>T) c.420A>T (p.Ala140=) c.963A>T (p.Ala321=) c.189A>T (p.Ala63=) n.5626A>T n.5667A>T | ClinVar dbSNP |
17 | g.43045780T>C | CA500142941 | BRCA1 | c.5487A>G (p.Ala1829=) c.5490A>G (p.Ala1830=) c.5364A>G (p.Ala1788=) c.5484A>G (p.Ala1828=) c.5412A>G (p.Ala1804=) c.2178A>G (p.Ala726=) c.2040A>G (p.Ala680=) c.4602A>G (p.Ala1534=) c.5367A>G (p.Ala1789=) c.5556A>G (p.Ala1852=) c.5349A>G (p.Ala1783=) c.2052A>G (p.Ala684=) n.1373A>G n.854A>G c.5553A>G (p.Ala1851=) c.1877A>G c.2064A>G (p.Ala688=) c.*5273A>G (n.*5273A>G) c.*4A>G (n.*4A>G) c.420A>G (p.Ala140=) c.963A>G (p.Ala321=) c.189A>G (p.Ala63=) n.5626A>G n.5667A>G | ClinVar dbSNP |
17 | g.43045780T>G | CA500142944 | BRCA1 | c.5487A>C (p.Ala1829=) c.5490A>C (p.Ala1830=) c.5364A>C (p.Ala1788=) c.5484A>C (p.Ala1828=) c.5412A>C (p.Ala1804=) c.2178A>C (p.Ala726=) c.2040A>C (p.Ala680=) c.4602A>C (p.Ala1534=) c.5367A>C (p.Ala1789=) c.5556A>C (p.Ala1852=) c.5349A>C (p.Ala1783=) c.2052A>C (p.Ala684=) n.1373A>C n.854A>C c.5553A>C (p.Ala1851=) c.1877A>C c.2064A>C (p.Ala688=) c.*5273A>C (n.*5273A>C) c.*4A>C (n.*4A>C) c.420A>C (p.Ala140=) c.963A>C (p.Ala321=) c.189A>C (p.Ala63=) n.5626A>C n.5667A>C | ClinVar dbSNP |
17 | g.43045780T= | CA2260761135 | BRCA1 | c.5487A= (p.Ala1829=) c.5490A= (p.Ala1830=) c.5364A= (p.Ala1788=) c.5484A= (p.Ala1828=) c.5412A= (p.Ala1804=) c.2178A= (p.Ala726=) c.2040A= (p.Ala680=) c.4602A= (p.Ala1534=) c.5367A= (p.Ala1789=) c.5556A= (p.Ala1852=) c.5349A= (p.Ala1783=) c.2052A= (p.Ala684=) n.1373A= n.854A= c.5553A= (p.Ala1851=) c.1877A= c.2064A= (p.Ala688=) c.*5273A= (n.*5273A=) c.*4A= (n.*4A=) c.420A= (p.Ala140=) c.963A= (p.Ala321=) c.189A= (p.Ala63=) n.5626A= n.5667A= | |
17 | g.43045784_43045796del | CA2580093923 | BRCA1 | c.5475_5487del (p.Gln1825HisfsTer4) c.5478_5490del (p.Gln1826HisfsTer4) c.5352_5364del (p.Gln1784HisfsTer4) c.5472_5484del (p.Gln1824HisfsTer4) c.5400_5412del (p.Gln1800HisfsTer4) c.2166_2178del (p.Gln722HisfsTer4) c.2028_2040del (p.Gln676HisfsTer4) c.4590_4602del (p.Gln1530HisfsTer4) c.5355_5367del (p.Gln1785HisfsTer4) c.5544_5556del (p.Gln1848HisfsTer4) c.5337_5349del (p.Gln1779HisfsTer4) c.2040_2052del (p.Gln680HisfsTer4) n.1361_1373del n.842_854del c.5541_5553del (p.Gln1847HisfsTer4) c.1865_1877del c.2052_2064del (p.Gln684HisfsTer4) c.*5261_*5273del (n.*5261_*5273del) c.2092_*4del (n.[c.2092_*4del;Asp698ProfsTer?]) c.408_420del (p.Gln136HisfsTer4) c.951_963del (p.Gln317HisfsTer4) c.177_189del (p.Gln59HisfsTer4) n.5614_5626del n.5655_5667del | ClinVar |