| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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.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.43046632_43048750del | CA2580093930 | BRCA1 | c.5403+398_5465-803del c.5406+398_5468-803del c.5280+398_5342-803del c.5400+398_5462-803del c.5328+398_5390-803del c.2094+398_2156-803del c.1956+398_2018-803del c.4518+398_4580-803del c.5283+398_5345-803del c.5472+398_5534-803del c.5265+398_5327-803del c.1968+398_2030-803del n.1289+398_1351-803del c.5469+398_5531-803del c.1793+398_1855-803del c.1980+398_2042-803del c.*5189+398_*5251-803del c.2021-1020_2082-803del c.336+398_398-803del c.879+398_941-803del c.105+398_167-803del n.5542+398_5604-803del n.5583+398_5645-803del | ClinVar |
| 17 | g.43047300_43054953dup | CA16043343 | BRCA1 | c.5274+2100_5464+344dup c.5277+2100_5467+344dup c.5151+2100_5341+344dup c.5271+2100_5461+344dup c.5199+2100_5389+344dup c.1965+2100_2155+344dup c.1827+2100_2017+344dup c.4389+2100_4579+344dup c.5154+2100_5344+344dup c.5343+2100_5533+344dup c.5136+2100_5326+344dup c.1839+2100_2029+344dup c.5340+2100_5530+344dup c.1664+2100_1854+344dup c.1851+2100_2041+344dup c.*5060+2100_*5250+344dup c.1965+2100_2081+344dup c.207+2100_397+344dup c.750+2100_940+344dup c.-98-4762_166+344dup n.5413+2100_5603+344dup n.5454+2100_5644+344dup | |
| 17 | g.43047629_43047683dup | CA2580093933 | BRCA1 | c.5427_5464+17dup c.5430_5467+17dup c.5304_5341+17dup c.5424_5461+17dup c.5352_5389+17dup c.2118_2155+17dup c.1980_2017+17dup c.4542_4579+17dup c.5307_5344+17dup c.5496_5533+17dup c.5289_5326+17dup c.1992_2029+17dup n.1313_1350+17dup n.794_831+17dup c.5493_5530+17dup c.1817_1854+17dup c.2004_2041+17dup c.*5213_*5250+17dup c.2044_2081+17dup c.360_397+17dup c.903_940+17dup c.129_166+17dup n.5566_5603+17dup n.5607_5644+17dup | ClinVar |
| 17 | g.43047641_43047778del | CA2499224348 | BRCA1 | c.5404-73_5464+4del c.5407-73_5467+4del c.5281-73_5341+4del c.5401-73_5461+4del c.5329-73_5389+4del c.2095-73_2155+4del c.1957-73_2017+4del c.4519-73_4579+4del c.5284-73_5344+4del c.5473-73_5533+4del c.5266-73_5326+4del c.1969-73_2029+4del n.1290-73_1350+4del n.698_831+4del c.5470-73_5530+4del c.1794-73_1854+4del c.1981-73_2041+4del c.*5190-73_*5250+4del c.2021-73_2081+4del c.337-73_397+4del c.880-73_940+4del c.106-73_166+4del n.5543-73_5603+4del n.5584-73_5644+4del | ClinVar dbSNP |
| 17 | g.43047664_43047679del | CA2573154022 | BRCA1 | c.5431_5446del (p.Pro1811ArgfsTer17) c.5434_5449del (p.Pro1812ArgfsTer17) c.5308_5323del (p.Pro1770ArgfsTer17) c.5428_5443del (p.Pro1810ArgfsTer17) c.5356_5371del (p.Pro1786ArgfsTer17) c.2122_2137del (p.Pro708ArgfsTer17) c.1984_1999del (p.Pro662ArgfsTer17) c.4546_4561del (p.Pro1516ArgfsTer17) c.5311_5326del (p.Pro1771ArgfsTer17) c.5500_5515del (p.Pro1834ArgfsTer17) c.5293_5308del (p.Pro1765ArgfsTer17) c.1996_2011del (p.Pro666ArgfsTer17) n.1317_1332del n.798_813del c.5497_5512del (p.Pro1833ArgfsTer17) c.1821_1836del c.2008_2023del (p.Pro670ArgfsTer17) c.*5217_*5232del (n.*5217_*5232del) c.2048_2063del (p.Ala683GlufsTer?) c.364_379del (p.Pro122ArgfsTer17) c.907_922del (p.Pro303ArgfsTer17) c.133_148del (p.Pro45ArgfsTer17) n.5570_5585del n.5611_5626del | ClinVar dbSNP |
| 17 | g.43047669_43047670delinsGC | CA2260761999 | BRCA1 | c.5437_5438delinsGC (p.Ala1813=) c.5440_5441delinsGC (p.Ala1814=) c.5314_5315delinsGC (p.Ala1772=) c.5434_5435delinsGC (p.Ala1812=) c.5362_5363delinsGC (p.Ala1788=) c.2128_2129delinsGC (p.Ala710=) c.1990_1991delinsGC (p.Ala664=) c.4552_4553delinsGC (p.Ala1518=) c.5317_5318delinsGC (p.Ala1773=) c.5506_5507delinsGC (p.Ala1836=) c.5299_5300delinsGC (p.Ala1767=) c.2002_2003delinsGC (p.Ala668=) n.1323_1324delinsGC n.804_805delinsGC c.5503_5504delinsGC (p.Ala1835=) c.1827_1828delinsGC c.2014_2015delinsGC (p.Ala672=) c.*5223_*5224delinsGC (n.*5223_*5224delinsGC) c.2054_2055delinsGC (p.Cys685=) c.370_371delinsGC (p.Ala124=) c.913_914delinsGC (p.Ala305=) c.139_140delinsGC (p.Ala47=) n.5576_5577delinsGC n.5617_5618delinsGC | |
| 17 | g.43047670del | CA003598 | BRCA1 | c.5437del (p.Ala1813ProfsTer20) c.5440del (p.Ala1814ProfsTer20) c.5314del (p.Ala1772ProfsTer20) c.5434del (p.Ala1812ProfsTer20) c.5362del (p.Ala1788ProfsTer20) c.2128del (p.Ala710ProfsTer20) c.1990del (p.Ala664ProfsTer20) c.4552del (p.Ala1518ProfsTer20) c.5317del (p.Ala1773ProfsTer20) c.5506del (p.Ala1836ProfsTer20) c.5299del (p.Ala1767ProfsTer20) c.2002del (p.Ala668ProfsTer20) n.1323del n.804del c.5503del (p.Ala1835ProfsTer20) c.1827del c.2014del (p.Ala672ProfsTer20) c.*5223del (n.*5223del) c.2054del (p.Cys685SerfsTer?) c.370del (p.Ala124ProfsTer20) c.913del (p.Ala305ProfsTer20) c.139del (p.Ala47ProfsTer20) n.5576del n.5617del | ClinVar dbSNP COSMIC |
| 17 | g.43047670C>A | CA10590534 | BRCA1 | c.5437G>T (p.Ala1813Ser) c.5440G>T (p.Ala1814Ser) c.5314G>T (p.Ala1772Ser) c.5434G>T (p.Ala1812Ser) c.5362G>T (p.Ala1788Ser) c.2128G>T (p.Ala710Ser) c.1990G>T (p.Ala664Ser) c.4552G>T (p.Ala1518Ser) c.5317G>T (p.Ala1773Ser) c.5506G>T (p.Ala1836Ser) c.5299G>T (p.Ala1767Ser) c.2002G>T (p.Ala668Ser) n.1323G>T n.804G>T c.5503G>T (p.Ala1835Ser) c.1827G>T c.2014G>T (p.Ala672Ser) c.*5223G>T (n.*5223G>T) c.2054G>T (p.Cys685Phe) c.370G>T (p.Ala124Ser) c.913G>T (p.Ala305Ser) c.139G>T (p.Ala47Ser) n.5576G>T n.5617G>T | ClinVar dbSNP |
| 17 | g.43047670C= | CA2260762000 | BRCA1 | c.5437G= (p.Ala1813=) c.5440G= (p.Ala1814=) c.5314G= (p.Ala1772=) c.5434G= (p.Ala1812=) c.5362G= (p.Ala1788=) c.2128G= (p.Ala710=) c.1990G= (p.Ala664=) c.4552G= (p.Ala1518=) c.5317G= (p.Ala1773=) c.5506G= (p.Ala1836=) c.5299G= (p.Ala1767=) c.2002G= (p.Ala668=) n.1323G= n.804G= c.5503G= (p.Ala1835=) c.1827G= c.2014G= (p.Ala672=) c.*5223G= (n.*5223G=) c.2054G= (p.Cys685=) c.370G= (p.Ala124=) c.913G= (p.Ala305=) c.139G= (p.Ala47=) n.5576G= n.5617G= | |
| 17 | g.43047670C>G | CA10590536 | BRCA1 | c.5437G>C (p.Ala1813Pro) c.5440G>C (p.Ala1814Pro) c.5314G>C (p.Ala1772Pro) c.5434G>C (p.Ala1812Pro) c.5362G>C (p.Ala1788Pro) c.2128G>C (p.Ala710Pro) c.1990G>C (p.Ala664Pro) c.4552G>C (p.Ala1518Pro) c.5317G>C (p.Ala1773Pro) c.5506G>C (p.Ala1836Pro) c.5299G>C (p.Ala1767Pro) c.2002G>C (p.Ala668Pro) n.1323G>C n.804G>C c.5503G>C (p.Ala1835Pro) c.1827G>C c.2014G>C (p.Ala672Pro) c.*5223G>C (n.*5223G>C) c.2054G>C (p.Cys685Ser) c.370G>C (p.Ala124Pro) c.913G>C (p.Ala305Pro) c.139G>C (p.Ala47Pro) n.5576G>C n.5617G>C | ClinVar dbSNP |
| 17 | g.43047670C>T | CA10590538 | BRCA1 | c.5437G>A (p.Ala1813Thr) c.5440G>A (p.Ala1814Thr) c.5314G>A (p.Ala1772Thr) c.5434G>A (p.Ala1812Thr) c.5362G>A (p.Ala1788Thr) c.2128G>A (p.Ala710Thr) c.1990G>A (p.Ala664Thr) c.4552G>A (p.Ala1518Thr) c.5317G>A (p.Ala1773Thr) c.5506G>A (p.Ala1836Thr) c.5299G>A (p.Ala1767Thr) c.2002G>A (p.Ala668Thr) n.1323G>A n.804G>A c.5503G>A (p.Ala1835Thr) c.1827G>A c.2014G>A (p.Ala672Thr) c.*5223G>A (n.*5223G>A) c.2054G>A (p.Cys685Tyr) c.370G>A (p.Ala124Thr) c.913G>A (p.Ala305Thr) c.139G>A (p.Ala47Thr) n.5576G>A n.5617G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43047670dup | CA16042162 | BRCA1 | c.5437dup (p.Ala1813GlyfsTer16) c.5440dup (p.Ala1814GlyfsTer16) c.5314dup (p.Ala1772GlyfsTer16) c.5434dup (p.Ala1812GlyfsTer16) c.5362dup (p.Ala1788GlyfsTer16) c.2128dup (p.Ala710GlyfsTer16) c.1990dup (p.Ala664GlyfsTer16) c.4552dup (p.Ala1518GlyfsTer16) c.5317dup (p.Ala1773GlyfsTer16) c.5506dup (p.Ala1836GlyfsTer16) c.5299dup (p.Ala1767GlyfsTer16) c.2002dup (p.Ala668GlyfsTer16) n.1323dup n.804dup c.5503dup (p.Ala1835GlyfsTer16) c.1827dup c.2014dup (p.Ala672GlyfsTer16) c.*5223dup (n.*5223dup) c.2054dup (p.Cys685TrpfsTer21) c.370dup (p.Ala124GlyfsTer16) c.913dup (p.Ala305GlyfsTer16) c.139dup (p.Ala47GlyfsTer16) n.5576dup n.5617dup | ClinVar dbSNP gnomAD v4 |
| 17 | g.43047671A= | CA2260762001 | BRCA1 | c.5436T= (p.Asp1812=) c.5439T= (p.Asp1813=) c.5313T= (p.Asp1771=) c.5433T= (p.Asp1811=) c.5361T= (p.Asp1787=) c.2127T= (p.Asp709=) c.1989T= (p.Asp663=) c.4551T= (p.Asp1517=) c.5316T= (p.Asp1772=) c.5505T= (p.Asp1835=) c.5298T= (p.Asp1766=) c.2001T= (p.Asp667=) n.1322T= n.803T= c.5502T= (p.Asp1834=) c.1826T= c.2013T= (p.Asp671=) c.*5222T= (n.*5222T=) c.2053T= (p.Cys685=) c.369T= (p.Asp123=) c.912T= (p.Asp304=) c.138T= (p.Asp46=) n.5575T= n.5616T= | |
| 17 | g.43047671A>C | CA10590540 | BRCA1 | c.5436T>G (p.Asp1812Glu) c.5439T>G (p.Asp1813Glu) c.5313T>G (p.Asp1771Glu) c.5433T>G (p.Asp1811Glu) c.5361T>G (p.Asp1787Glu) c.2127T>G (p.Asp709Glu) c.1989T>G (p.Asp663Glu) c.4551T>G (p.Asp1517Glu) c.5316T>G (p.Asp1772Glu) c.5505T>G (p.Asp1835Glu) c.5298T>G (p.Asp1766Glu) c.2001T>G (p.Asp667Glu) n.1322T>G n.803T>G c.5502T>G (p.Asp1834Glu) c.1826T>G c.2013T>G (p.Asp671Glu) c.*5222T>G (n.*5222T>G) c.2053T>G (p.Cys685Gly) c.369T>G (p.Asp123Glu) c.912T>G (p.Asp304Glu) c.138T>G (p.Asp46Glu) n.5575T>G n.5616T>G | ClinVar dbSNP |
| 17 | g.43047671A>G | CA055035 | BRCA1 | c.5436T>C (p.Asp1812=) c.5439T>C (p.Asp1813=) c.5313T>C (p.Asp1771=) c.5433T>C (p.Asp1811=) c.5361T>C (p.Asp1787=) c.2127T>C (p.Asp709=) c.1989T>C (p.Asp663=) c.4551T>C (p.Asp1517=) c.5316T>C (p.Asp1772=) c.5505T>C (p.Asp1835=) c.5298T>C (p.Asp1766=) c.2001T>C (p.Asp667=) n.1322T>C n.803T>C c.5502T>C (p.Asp1834=) c.1826T>C c.2013T>C (p.Asp671=) c.*5222T>C (n.*5222T>C) c.2053T>C (p.Cys685Arg) c.369T>C (p.Asp123=) c.912T>C (p.Asp304=) c.138T>C (p.Asp46=) n.5575T>C n.5616T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43047671A>T | CA10590542 | BRCA1 | c.5436T>A (p.Asp1812Glu) c.5439T>A (p.Asp1813Glu) c.5313T>A (p.Asp1771Glu) c.5433T>A (p.Asp1811Glu) c.5361T>A (p.Asp1787Glu) c.2127T>A (p.Asp709Glu) c.1989T>A (p.Asp663Glu) c.4551T>A (p.Asp1517Glu) c.5316T>A (p.Asp1772Glu) c.5505T>A (p.Asp1835Glu) c.5298T>A (p.Asp1766Glu) c.2001T>A (p.Asp667Glu) n.1322T>A n.803T>A c.5502T>A (p.Asp1834Glu) c.1826T>A c.2013T>A (p.Asp671Glu) c.*5222T>A (n.*5222T>A) c.2053T>A (p.Cys685Ser) c.369T>A (p.Asp123Glu) c.912T>A (p.Asp304Glu) c.138T>A (p.Asp46Glu) n.5575T>A n.5616T>A | ClinVar dbSNP |
| 17 | g.43047671_43047678del | CA2580093938 | BRCA1 | c.5429_5436del (p.Gln1810ArgfsTer16) c.5432_5439del (p.Gln1811ArgfsTer16) c.5306_5313del (p.Gln1769ArgfsTer16) c.5426_5433del (p.Gln1809ArgfsTer16) c.5354_5361del (p.Gln1785ArgfsTer16) c.2120_2127del (p.Gln707ArgfsTer16) c.1982_1989del (p.Gln661ArgfsTer16) c.4544_4551del (p.Gln1515ArgfsTer16) c.5309_5316del (p.Gln1770ArgfsTer16) c.5498_5505del (p.Gln1833ArgfsTer16) c.5291_5298del (p.Gln1764ArgfsTer16) c.1994_2001del (p.Gln665ArgfsTer16) n.1315_1322del n.796_803del c.5495_5502del (p.Gln1832ArgfsTer16) c.1819_1826del c.2006_2013del (p.Gln669ArgfsTer16) c.*5215_*5222del (n.*5215_*5222del) c.2046_2053del (p.Ala683ProfsTer20) c.362_369del (p.Gln121ArgfsTer16) c.905_912del (p.Gln302ArgfsTer16) c.131_138del (p.Gln44ArgfsTer16) n.5568_5575del n.5609_5616del | ClinVar |
| 17 | g.43047672T>A | CA10590544 | BRCA1 | c.5435A>T (p.Asp1812Val) c.5438A>T (p.Asp1813Val) c.5312A>T (p.Asp1771Val) c.5432A>T (p.Asp1811Val) c.5360A>T (p.Asp1787Val) c.2126A>T (p.Asp709Val) c.1988A>T (p.Asp663Val) c.4550A>T (p.Asp1517Val) c.5315A>T (p.Asp1772Val) c.5504A>T (p.Asp1835Val) c.5297A>T (p.Asp1766Val) c.2000A>T (p.Asp667Val) n.1321A>T n.802A>T c.5501A>T (p.Asp1834Val) c.1825A>T c.2012A>T (p.Asp671Val) c.*5221A>T (n.*5221A>T) c.2052A>T (p.Arg684Ser) c.368A>T (p.Asp123Val) c.911A>T (p.Asp304Val) c.137A>T (p.Asp46Val) n.5574A>T n.5615A>T | ClinVar dbSNP |
| 17 | g.43047672T>C | CA10590546 | BRCA1 | c.5435A>G (p.Asp1812Gly) c.5438A>G (p.Asp1813Gly) c.5312A>G (p.Asp1771Gly) c.5432A>G (p.Asp1811Gly) c.5360A>G (p.Asp1787Gly) c.2126A>G (p.Asp709Gly) c.1988A>G (p.Asp663Gly) c.4550A>G (p.Asp1517Gly) c.5315A>G (p.Asp1772Gly) c.5504A>G (p.Asp1835Gly) c.5297A>G (p.Asp1766Gly) c.2000A>G (p.Asp667Gly) n.1321A>G n.802A>G c.5501A>G (p.Asp1834Gly) c.1825A>G c.2012A>G (p.Asp671Gly) c.*5221A>G (n.*5221A>G) c.2052A>G (p.Arg684=) c.368A>G (p.Asp123Gly) c.911A>G (p.Asp304Gly) c.137A>G (p.Asp46Gly) n.5574A>G n.5615A>G | ClinVar dbSNP |
| 17 | g.43047672T>G | CA10590547 | BRCA1 | c.5435A>C (p.Asp1812Ala) c.5438A>C (p.Asp1813Ala) c.5312A>C (p.Asp1771Ala) c.5432A>C (p.Asp1811Ala) c.5360A>C (p.Asp1787Ala) c.2126A>C (p.Asp709Ala) c.1988A>C (p.Asp663Ala) c.4550A>C (p.Asp1517Ala) c.5315A>C (p.Asp1772Ala) c.5504A>C (p.Asp1835Ala) c.5297A>C (p.Asp1766Ala) c.2000A>C (p.Asp667Ala) n.1321A>C n.802A>C c.5501A>C (p.Asp1834Ala) c.1825A>C c.2012A>C (p.Asp671Ala) c.*5221A>C (n.*5221A>C) c.2052A>C (p.Arg684Ser) c.368A>C (p.Asp123Ala) c.911A>C (p.Asp304Ala) c.137A>C (p.Asp46Ala) n.5574A>C n.5615A>C | ClinVar dbSNP |
| 17 | g.43047672T= | CA2260762002 | BRCA1 | c.5435A= (p.Asp1812=) c.5438A= (p.Asp1813=) c.5312A= (p.Asp1771=) c.5432A= (p.Asp1811=) c.5360A= (p.Asp1787=) c.2126A= (p.Asp709=) c.1988A= (p.Asp663=) c.4550A= (p.Asp1517=) c.5315A= (p.Asp1772=) c.5504A= (p.Asp1835=) c.5297A= (p.Asp1766=) c.2000A= (p.Asp667=) n.1321A= n.802A= c.5501A= (p.Asp1834=) c.1825A= c.2012A= (p.Asp671=) c.*5221A= (n.*5221A=) c.2052A= (p.Arg684=) c.368A= (p.Asp123=) c.911A= (p.Asp304=) c.137A= (p.Asp46=) n.5574A= n.5615A= | |
| 17 | g.43047673C>A | CA10590549 | BRCA1 | c.5434G>T (p.Asp1812Tyr) c.5437G>T (p.Asp1813Tyr) c.5311G>T (p.Asp1771Tyr) c.5431G>T (p.Asp1811Tyr) c.5359G>T (p.Asp1787Tyr) c.2125G>T (p.Asp709Tyr) c.1987G>T (p.Asp663Tyr) c.4549G>T (p.Asp1517Tyr) c.5314G>T (p.Asp1772Tyr) c.5503G>T (p.Asp1835Tyr) c.5296G>T (p.Asp1766Tyr) c.1999G>T (p.Asp667Tyr) n.1320G>T n.801G>T c.5500G>T (p.Asp1834Tyr) c.1824G>T c.2011G>T (p.Asp671Tyr) c.*5220G>T (n.*5220G>T) c.2051G>T (p.Arg684Ile) c.367G>T (p.Asp123Tyr) c.910G>T (p.Asp304Tyr) c.136G>T (p.Asp46Tyr) n.5573G>T n.5614G>T | ClinVar dbSNP |
| 17 | g.43047673C= | CA2260762003 | BRCA1 | c.5434G= (p.Asp1812=) c.5437G= (p.Asp1813=) c.5311G= (p.Asp1771=) c.5431G= (p.Asp1811=) c.5359G= (p.Asp1787=) c.2125G= (p.Asp709=) c.1987G= (p.Asp663=) c.4549G= (p.Asp1517=) c.5314G= (p.Asp1772=) c.5503G= (p.Asp1835=) c.5296G= (p.Asp1766=) c.1999G= (p.Asp667=) n.1320G= n.801G= c.5500G= (p.Asp1834=) c.1824G= c.2011G= (p.Asp671=) c.*5220G= (n.*5220G=) c.2051G= (p.Arg684=) c.367G= (p.Asp123=) c.910G= (p.Asp304=) c.136G= (p.Asp46=) n.5573G= n.5614G= | |
| 17 | g.43047673C>G | CA10590551 | BRCA1 | c.5434G>C (p.Asp1812His) c.5437G>C (p.Asp1813His) c.5311G>C (p.Asp1771His) c.5431G>C (p.Asp1811His) c.5359G>C (p.Asp1787His) c.2125G>C (p.Asp709His) c.1987G>C (p.Asp663His) c.4549G>C (p.Asp1517His) c.5314G>C (p.Asp1772His) c.5503G>C (p.Asp1835His) c.5296G>C (p.Asp1766His) c.1999G>C (p.Asp667His) n.1320G>C n.801G>C c.5500G>C (p.Asp1834His) c.1824G>C c.2011G>C (p.Asp671His) c.*5220G>C (n.*5220G>C) c.2051G>C (p.Arg684Thr) c.367G>C (p.Asp123His) c.910G>C (p.Asp304His) c.136G>C (p.Asp46His) n.5573G>C n.5614G>C | ClinVar dbSNP |
| 17 | g.43047673C>T | CA10590553 | BRCA1 | c.5434G>A (p.Asp1812Asn) c.5437G>A (p.Asp1813Asn) c.5311G>A (p.Asp1771Asn) c.5431G>A (p.Asp1811Asn) c.5359G>A (p.Asp1787Asn) c.2125G>A (p.Asp709Asn) c.1987G>A (p.Asp663Asn) c.4549G>A (p.Asp1517Asn) c.5314G>A (p.Asp1772Asn) c.5503G>A (p.Asp1835Asn) c.5296G>A (p.Asp1766Asn) c.1999G>A (p.Asp667Asn) n.1320G>A n.801G>A c.5500G>A (p.Asp1834Asn) c.1824G>A c.2011G>A (p.Asp671Asn) c.*5220G>A (n.*5220G>A) c.2051G>A (p.Arg684Lys) c.367G>A (p.Asp123Asn) c.910G>A (p.Asp304Asn) c.136G>A (p.Asp46Asn) n.5573G>A n.5614G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43047674T>A | CA10590555 | BRCA1 | c.5433A>T (p.Pro1811=) c.5436A>T (p.Pro1812=) c.5310A>T (p.Pro1770=) c.5430A>T (p.Pro1810=) c.5358A>T (p.Pro1786=) c.2124A>T (p.Pro708=) c.1986A>T (p.Pro662=) c.4548A>T (p.Pro1516=) c.5313A>T (p.Pro1771=) c.5502A>T (p.Pro1834=) c.5295A>T (p.Pro1765=) c.1998A>T (p.Pro666=) n.1319A>T n.800A>T c.5499A>T (p.Pro1833=) c.1823A>T c.2010A>T (p.Pro670=) c.*5219A>T (n.*5219A>T) c.2050A>T (p.Arg684Ter) c.366A>T (p.Pro122=) c.909A>T (p.Pro303=) c.135A>T (p.Pro45=) n.5572A>T n.5613A>T | ClinVar dbSNP |
| 17 | g.43047674T>C | CA10590556 | BRCA1 | c.5433A>G (p.Pro1811=) c.5436A>G (p.Pro1812=) c.5310A>G (p.Pro1770=) c.5430A>G (p.Pro1810=) c.5358A>G (p.Pro1786=) c.2124A>G (p.Pro708=) c.1986A>G (p.Pro662=) c.4548A>G (p.Pro1516=) c.5313A>G (p.Pro1771=) c.5502A>G (p.Pro1834=) c.5295A>G (p.Pro1765=) c.1998A>G (p.Pro666=) n.1319A>G n.800A>G c.5499A>G (p.Pro1833=) c.1823A>G c.2010A>G (p.Pro670=) c.*5219A>G (n.*5219A>G) c.2050A>G (p.Arg684Gly) c.366A>G (p.Pro122=) c.909A>G (p.Pro303=) c.135A>G (p.Pro45=) n.5572A>G n.5613A>G | ClinVar dbSNP |
| 17 | g.43047674T>G | CA500143175 | BRCA1 | c.5433A>C (p.Pro1811=) c.5436A>C (p.Pro1812=) c.5310A>C (p.Pro1770=) c.5430A>C (p.Pro1810=) c.5358A>C (p.Pro1786=) c.2124A>C (p.Pro708=) c.1986A>C (p.Pro662=) c.4548A>C (p.Pro1516=) c.5313A>C (p.Pro1771=) c.5502A>C (p.Pro1834=) c.5295A>C (p.Pro1765=) c.1998A>C (p.Pro666=) n.1319A>C n.800A>C c.5499A>C (p.Pro1833=) c.1823A>C c.2010A>C (p.Pro670=) c.*5219A>C (n.*5219A>C) c.2050A>C (p.Arg684=) c.366A>C (p.Pro122=) c.909A>C (p.Pro303=) c.135A>C (p.Pro45=) n.5572A>C n.5613A>C | ClinVar dbSNP |
| 17 | g.43047674T= | CA2260762004 | BRCA1 | c.5433A= (p.Pro1811=) c.5436A= (p.Pro1812=) c.5310A= (p.Pro1770=) c.5430A= (p.Pro1810=) c.5358A= (p.Pro1786=) c.2124A= (p.Pro708=) c.1986A= (p.Pro662=) c.4548A= (p.Pro1516=) c.5313A= (p.Pro1771=) c.5502A= (p.Pro1834=) c.5295A= (p.Pro1765=) c.1998A= (p.Pro666=) n.1319A= n.800A= c.5499A= (p.Pro1833=) c.1823A= c.2010A= (p.Pro670=) c.*5219A= (n.*5219A=) c.2050A= (p.Arg684=) c.366A= (p.Pro122=) c.909A= (p.Pro303=) c.135A= (p.Pro45=) n.5572A= n.5613A= | |
| 17 | g.43047675G>A | CA10590557 | BRCA1 | c.5432C>T (p.Pro1811Leu) c.5435C>T (p.Pro1812Leu) c.5309C>T (p.Pro1770Leu) c.5429C>T (p.Pro1810Leu) c.5357C>T (p.Pro1786Leu) c.2123C>T (p.Pro708Leu) c.1985C>T (p.Pro662Leu) c.4547C>T (p.Pro1516Leu) c.5312C>T (p.Pro1771Leu) c.5501C>T (p.Pro1834Leu) c.5294C>T (p.Pro1765Leu) c.1997C>T (p.Pro666Leu) n.1318C>T n.799C>T c.5498C>T (p.Pro1833Leu) c.1822C>T c.2009C>T (p.Pro670Leu) c.*5218C>T (n.*5218C>T) c.2049C>T (p.Ala683=) c.365C>T (p.Pro122Leu) c.908C>T (p.Pro303Leu) c.134C>T (p.Pro45Leu) n.5571C>T n.5612C>T | ClinVar dbSNP |
| 17 | g.43047675G>C | CA10590558 | BRCA1 | c.5432C>G (p.Pro1811Arg) c.5435C>G (p.Pro1812Arg) c.5309C>G (p.Pro1770Arg) c.5429C>G (p.Pro1810Arg) c.5357C>G (p.Pro1786Arg) c.2123C>G (p.Pro708Arg) c.1985C>G (p.Pro662Arg) c.4547C>G (p.Pro1516Arg) c.5312C>G (p.Pro1771Arg) c.5501C>G (p.Pro1834Arg) c.5294C>G (p.Pro1765Arg) c.1997C>G (p.Pro666Arg) n.1318C>G n.799C>G c.5498C>G (p.Pro1833Arg) c.1822C>G c.2009C>G (p.Pro670Arg) c.*5218C>G (n.*5218C>G) c.2049C>G (p.Ala683=) c.365C>G (p.Pro122Arg) c.908C>G (p.Pro303Arg) c.134C>G (p.Pro45Arg) n.5571C>G n.5612C>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43047675G= | CA2260762005 | BRCA1 | c.5432C= (p.Pro1811=) c.5435C= (p.Pro1812=) c.5309C= (p.Pro1770=) c.5429C= (p.Pro1810=) c.5357C= (p.Pro1786=) c.2123C= (p.Pro708=) c.1985C= (p.Pro662=) c.4547C= (p.Pro1516=) c.5312C= (p.Pro1771=) c.5501C= (p.Pro1834=) c.5294C= (p.Pro1765=) c.1997C= (p.Pro666=) n.1318C= n.799C= c.5498C= (p.Pro1833=) c.1822C= c.2009C= (p.Pro670=) c.*5218C= (n.*5218C=) c.2049C= (p.Ala683=) c.365C= (p.Pro122=) c.908C= (p.Pro303=) c.134C= (p.Pro45=) n.5571C= n.5612C= | |
| 17 | g.43047675G>T | CA10590559 | BRCA1 | c.5432C>A (p.Pro1811Gln) c.5435C>A (p.Pro1812Gln) c.5309C>A (p.Pro1770Gln) c.5429C>A (p.Pro1810Gln) c.5357C>A (p.Pro1786Gln) c.2123C>A (p.Pro708Gln) c.1985C>A (p.Pro662Gln) c.4547C>A (p.Pro1516Gln) c.5312C>A (p.Pro1771Gln) c.5501C>A (p.Pro1834Gln) c.5294C>A (p.Pro1765Gln) c.1997C>A (p.Pro666Gln) n.1318C>A n.799C>A c.5498C>A (p.Pro1833Gln) c.1822C>A c.2009C>A (p.Pro670Gln) c.*5218C>A (n.*5218C>A) c.2049C>A (p.Ala683=) c.365C>A (p.Pro122Gln) c.908C>A (p.Pro303Gln) c.134C>A (p.Pro45Gln) n.5571C>A n.5612C>A | ClinVar dbSNP |
| 17 | g.43047676G>A | CA10590560 | BRCA1 | c.5431C>T (p.Pro1811Ser) c.5434C>T (p.Pro1812Ser) c.5308C>T (p.Pro1770Ser) c.5428C>T (p.Pro1810Ser) c.5356C>T (p.Pro1786Ser) c.2122C>T (p.Pro708Ser) c.1984C>T (p.Pro662Ser) c.4546C>T (p.Pro1516Ser) c.5311C>T (p.Pro1771Ser) c.5500C>T (p.Pro1834Ser) c.5293C>T (p.Pro1765Ser) c.1996C>T (p.Pro666Ser) n.1317C>T n.798C>T c.5497C>T (p.Pro1833Ser) c.1821C>T c.2008C>T (p.Pro670Ser) c.*5217C>T (n.*5217C>T) c.2048C>T (p.Ala683Val) c.364C>T (p.Pro122Ser) c.907C>T (p.Pro303Ser) c.133C>T (p.Pro45Ser) n.5570C>T n.5611C>T | ClinVar dbSNP |
| 17 | g.43047676G>C | CA003596 | BRCA1 | c.5431C>G (p.Pro1811Ala) c.5434C>G (p.Pro1812Ala) c.5308C>G (p.Pro1770Ala) c.5428C>G (p.Pro1810Ala) c.5356C>G (p.Pro1786Ala) c.2122C>G (p.Pro708Ala) c.1984C>G (p.Pro662Ala) c.4546C>G (p.Pro1516Ala) c.5311C>G (p.Pro1771Ala) c.5500C>G (p.Pro1834Ala) c.5293C>G (p.Pro1765Ala) c.1996C>G (p.Pro666Ala) n.1317C>G n.798C>G c.5497C>G (p.Pro1833Ala) c.1821C>G c.2008C>G (p.Pro670Ala) c.*5217C>G (n.*5217C>G) c.2048C>G (p.Ala683Gly) c.364C>G (p.Pro122Ala) c.907C>G (p.Pro303Ala) c.133C>G (p.Pro45Ala) n.5570C>G n.5611C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43047676G= | CA2260762006 | BRCA1 | c.5431C= (p.Pro1811=) c.5434C= (p.Pro1812=) c.5308C= (p.Pro1770=) c.5428C= (p.Pro1810=) c.5356C= (p.Pro1786=) c.2122C= (p.Pro708=) c.1984C= (p.Pro662=) c.4546C= (p.Pro1516=) c.5311C= (p.Pro1771=) c.5500C= (p.Pro1834=) c.5293C= (p.Pro1765=) c.1996C= (p.Pro666=) n.1317C= n.798C= c.5497C= (p.Pro1833=) c.1821C= c.2008C= (p.Pro670=) c.*5217C= (n.*5217C=) c.2048C= (p.Ala683=) c.364C= (p.Pro122=) c.907C= (p.Pro303=) c.133C= (p.Pro45=) n.5570C= n.5611C= | |
| 17 | g.43047676G>T | CA10590562 | BRCA1 | c.5431C>A (p.Pro1811Thr) c.5434C>A (p.Pro1812Thr) c.5308C>A (p.Pro1770Thr) c.5428C>A (p.Pro1810Thr) c.5356C>A (p.Pro1786Thr) c.2122C>A (p.Pro708Thr) c.1984C>A (p.Pro662Thr) c.4546C>A (p.Pro1516Thr) c.5311C>A (p.Pro1771Thr) c.5500C>A (p.Pro1834Thr) c.5293C>A (p.Pro1765Thr) c.1996C>A (p.Pro666Thr) n.1317C>A n.798C>A c.5497C>A (p.Pro1833Thr) c.1821C>A c.2008C>A (p.Pro670Thr) c.*5217C>A (n.*5217C>A) c.2048C>A (p.Ala683Asp) c.364C>A (p.Pro122Thr) c.907C>A (p.Pro303Thr) c.133C>A (p.Pro45Thr) n.5570C>A n.5611C>A | ClinVar dbSNP |
| 17 | g.43047677C>A | CA10590564 | BRCA1 | c.5430G>T (p.Gln1810His) c.5433G>T (p.Gln1811His) c.5307G>T (p.Gln1769His) c.5427G>T (p.Gln1809His) c.5355G>T (p.Gln1785His) c.2121G>T (p.Gln707His) c.1983G>T (p.Gln661His) c.4545G>T (p.Gln1515His) c.5310G>T (p.Gln1770His) c.5499G>T (p.Gln1833His) c.5292G>T (p.Gln1764His) c.1995G>T (p.Gln665His) n.1316G>T n.797G>T c.5496G>T (p.Gln1832His) c.1820G>T c.2007G>T (p.Gln669His) c.*5216G>T (n.*5216G>T) c.2047G>T (p.Ala683Ser) c.363G>T (p.Gln121His) c.906G>T (p.Gln302His) c.132G>T (p.Gln44His) n.5569G>T n.5610G>T | ClinVar dbSNP |
| 17 | g.43047677C= | CA2260762007 | BRCA1 | c.5430G= (p.Gln1810=) c.5433G= (p.Gln1811=) c.5307G= (p.Gln1769=) c.5427G= (p.Gln1809=) c.5355G= (p.Gln1785=) c.2121G= (p.Gln707=) c.1983G= (p.Gln661=) c.4545G= (p.Gln1515=) c.5310G= (p.Gln1770=) c.5499G= (p.Gln1833=) c.5292G= (p.Gln1764=) c.1995G= (p.Gln665=) n.1316G= n.797G= c.5496G= (p.Gln1832=) c.1820G= c.2007G= (p.Gln669=) c.*5216G= (n.*5216G=) c.2047G= (p.Ala683=) c.363G= (p.Gln121=) c.906G= (p.Gln302=) c.132G= (p.Gln44=) n.5569G= n.5610G= | |
| 17 | g.43047677C>G | CA10590566 | BRCA1 | c.5430G>C (p.Gln1810His) c.5433G>C (p.Gln1811His) c.5307G>C (p.Gln1769His) c.5427G>C (p.Gln1809His) c.5355G>C (p.Gln1785His) c.2121G>C (p.Gln707His) c.1983G>C (p.Gln661His) c.4545G>C (p.Gln1515His) c.5310G>C (p.Gln1770His) c.5499G>C (p.Gln1833His) c.5292G>C (p.Gln1764His) c.1995G>C (p.Gln665His) n.1316G>C n.797G>C c.5496G>C (p.Gln1832His) c.1820G>C c.2007G>C (p.Gln669His) c.*5216G>C (n.*5216G>C) c.2047G>C (p.Ala683Pro) c.363G>C (p.Gln121His) c.906G>C (p.Gln302His) c.132G>C (p.Gln44His) n.5569G>C n.5610G>C | ClinVar dbSNP |
| 17 | g.43047677C>T | CA10590568 | BRCA1 | c.5430G>A (p.Gln1810=) c.5433G>A (p.Gln1811=) c.5307G>A (p.Gln1769=) c.5427G>A (p.Gln1809=) c.5355G>A (p.Gln1785=) c.2121G>A (p.Gln707=) c.1983G>A (p.Gln661=) c.4545G>A (p.Gln1515=) c.5310G>A (p.Gln1770=) c.5499G>A (p.Gln1833=) c.5292G>A (p.Gln1764=) c.1995G>A (p.Gln665=) n.1316G>A n.797G>A c.5496G>A (p.Gln1832=) c.1820G>A c.2007G>A (p.Gln669=) c.*5216G>A (n.*5216G>A) c.2047G>A (p.Ala683Thr) c.363G>A (p.Gln121=) c.906G>A (p.Gln302=) c.132G>A (p.Gln44=) n.5569G>A n.5610G>A | ClinVar dbSNP |
| 17 | g.43047677_43047683del | CA2739265613 | BRCA1 | c.5424_5430del (p.Val1809GlnfsTer22) c.5427_5433del (p.Val1810GlnfsTer22) c.5301_5307del (p.Val1768GlnfsTer22) c.5421_5427del (p.Val1808GlnfsTer22) c.5349_5355del (p.Val1784GlnfsTer22) c.2115_2121del (p.Val706GlnfsTer22) c.1977_1983del (p.Val660GlnfsTer22) c.4539_4545del (p.Val1514GlnfsTer22) c.5304_5310del (p.Val1769GlnfsTer22) c.5493_5499del (p.Val1832GlnfsTer22) c.5286_5292del (p.Val1763GlnfsTer22) c.1989_1995del (p.Val664GlnfsTer22) n.1310_1316del n.791_797del c.5490_5496del (p.Val1831GlnfsTer22) c.1814_1820del c.2001_2007del (p.Val668GlnfsTer22) c.*5210_*5216del (n.*5210_*5216del) c.2041_2047del (p.Cys681ProfsTer?) c.357_363del (p.Val120GlnfsTer22) c.900_906del (p.Val301GlnfsTer22) c.126_132del (p.Val43GlnfsTer22) n.5563_5569del n.5604_5610del | |
| 17 | g.43047679_43049196del | CA913203498 | BRCA1 | c.5330_5430del c.5333_5433del c.5207_5307del c.5327_5427del c.5255_5355del c.2021_2121del c.1883_1983del c.4445_4545del c.5210_5310del c.5399_5499del c.5192_5292del c.1895_1995del n.1216_1316del c.5396_5496del c.1720_1820del c.1907_2007del c.*5116_*5216del c.2021-1491_2047del c.263_363del c.806_906del c.32_132del n.5469_5569del n.5510_5610del | |
| 17 | g.43047678del | CA2573154025 | BRCA1 | c.5429del (p.Gln1810ArgfsTer23) c.5432del (p.Gln1811ArgfsTer23) c.5306del (p.Gln1769ArgfsTer23) c.5426del (p.Gln1809ArgfsTer23) c.5354del (p.Gln1785ArgfsTer23) c.2120del (p.Gln707ArgfsTer23) c.1982del (p.Gln661ArgfsTer23) c.4544del (p.Gln1515ArgfsTer23) c.5309del (p.Gln1770ArgfsTer23) c.5498del (p.Gln1833ArgfsTer23) c.5291del (p.Gln1764ArgfsTer23) c.1994del (p.Gln665ArgfsTer23) n.1315del n.796del c.5495del (p.Gln1832ArgfsTer23) c.1819del c.2006del (p.Gln669ArgfsTer23) c.*5215del (n.*5215del) c.2046del (p.Ala683ProfsTer?) c.362del (p.Gln121ArgfsTer23) c.905del (p.Gln302ArgfsTer23) c.131del (p.Gln44ArgfsTer23) n.5568del n.5609del | ClinVar dbSNP |
| 17 | g.43047678T>A | CA10590569 | BRCA1 | c.5429A>T (p.Gln1810Leu) c.5432A>T (p.Gln1811Leu) c.5306A>T (p.Gln1769Leu) c.5426A>T (p.Gln1809Leu) c.5354A>T (p.Gln1785Leu) c.2120A>T (p.Gln707Leu) c.1982A>T (p.Gln661Leu) c.4544A>T (p.Gln1515Leu) c.5309A>T (p.Gln1770Leu) c.5498A>T (p.Gln1833Leu) c.5291A>T (p.Gln1764Leu) c.1994A>T (p.Gln665Leu) n.1315A>T n.796A>T c.5495A>T (p.Gln1832Leu) c.1819A>T c.2006A>T (p.Gln669Leu) c.*5215A>T (n.*5215A>T) c.2046A>T (p.Ala682=) c.362A>T (p.Gln121Leu) c.905A>T (p.Gln302Leu) c.131A>T (p.Gln44Leu) n.5568A>T n.5609A>T | ClinVar dbSNP |
| 17 | g.43047678T>C | CA003594 | BRCA1 | c.5429A>G (p.Gln1810Arg) c.5432A>G (p.Gln1811Arg) c.5306A>G (p.Gln1769Arg) c.5426A>G (p.Gln1809Arg) c.5354A>G (p.Gln1785Arg) c.2120A>G (p.Gln707Arg) c.1982A>G (p.Gln661Arg) c.4544A>G (p.Gln1515Arg) c.5309A>G (p.Gln1770Arg) c.5498A>G (p.Gln1833Arg) c.5291A>G (p.Gln1764Arg) c.1994A>G (p.Gln665Arg) n.1315A>G n.796A>G c.5495A>G (p.Gln1832Arg) c.1819A>G c.2006A>G (p.Gln669Arg) c.*5215A>G (n.*5215A>G) c.2046A>G (p.Ala682=) c.362A>G (p.Gln121Arg) c.905A>G (p.Gln302Arg) c.131A>G (p.Gln44Arg) n.5568A>G n.5609A>G | ClinVar dbSNP gnomAD v4 |