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.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_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.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.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.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.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.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.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 |
17 | g.43045781G>A | CA10590324 | BRCA1 | c.5486C>T (p.Ala1829Val) c.5489C>T (p.Ala1830Val) c.5363C>T (p.Ala1788Val) c.5483C>T (p.Ala1828Val) c.5411C>T (p.Ala1804Val) c.2177C>T (p.Ala726Val) c.2039C>T (p.Ala680Val) c.4601C>T (p.Ala1534Val) c.5366C>T (p.Ala1789Val) c.5555C>T (p.Ala1852Val) c.5348C>T (p.Ala1783Val) c.2051C>T (p.Ala684Val) n.1372C>T n.853C>T c.5552C>T (p.Ala1851Val) c.1876C>T c.2063C>T (p.Ala688Val) c.*5272C>T (n.*5272C>T) c.*3C>T (n.*3C>T) c.419C>T (p.Ala140Val) c.962C>T (p.Ala321Val) c.188C>T (p.Ala63Val) n.5625C>T n.5666C>T | ClinVar dbSNP |
17 | g.43045781G>C | CA10590325 | BRCA1 | c.5486C>G (p.Ala1829Gly) c.5489C>G (p.Ala1830Gly) c.5363C>G (p.Ala1788Gly) c.5483C>G (p.Ala1828Gly) c.5411C>G (p.Ala1804Gly) c.2177C>G (p.Ala726Gly) c.2039C>G (p.Ala680Gly) c.4601C>G (p.Ala1534Gly) c.5366C>G (p.Ala1789Gly) c.5555C>G (p.Ala1852Gly) c.5348C>G (p.Ala1783Gly) c.2051C>G (p.Ala684Gly) n.1372C>G n.853C>G c.5552C>G (p.Ala1851Gly) c.1876C>G c.2063C>G (p.Ala688Gly) c.*5272C>G (n.*5272C>G) c.*3C>G (n.*3C>G) c.419C>G (p.Ala140Gly) c.962C>G (p.Ala321Gly) c.188C>G (p.Ala63Gly) n.5625C>G n.5666C>G | ClinVar dbSNP |
17 | g.43045781G= | CA2260761136 | BRCA1 | c.5486C= (p.Ala1829=) c.5489C= (p.Ala1830=) c.5363C= (p.Ala1788=) c.5483C= (p.Ala1828=) c.5411C= (p.Ala1804=) c.2177C= (p.Ala726=) c.2039C= (p.Ala680=) c.4601C= (p.Ala1534=) c.5366C= (p.Ala1789=) c.5555C= (p.Ala1852=) c.5348C= (p.Ala1783=) c.2051C= (p.Ala684=) n.1372C= n.853C= c.5552C= (p.Ala1851=) c.1876C= c.2063C= (p.Ala688=) c.*5272C= (n.*5272C=) c.*3C= (n.*3C=) c.419C= (p.Ala140=) c.962C= (p.Ala321=) c.188C= (p.Ala63=) n.5625C= n.5666C= | |
17 | g.43045781G>T | CA10590326 | BRCA1 | c.5486C>A (p.Ala1829Glu) c.5489C>A (p.Ala1830Glu) c.5363C>A (p.Ala1788Glu) c.5483C>A (p.Ala1828Glu) c.5411C>A (p.Ala1804Glu) c.2177C>A (p.Ala726Glu) c.2039C>A (p.Ala680Glu) c.4601C>A (p.Ala1534Glu) c.5366C>A (p.Ala1789Glu) c.5555C>A (p.Ala1852Glu) c.5348C>A (p.Ala1783Glu) c.2051C>A (p.Ala684Glu) n.1372C>A n.853C>A c.5552C>A (p.Ala1851Glu) c.1876C>A c.2063C>A (p.Ala688Glu) c.*5272C>A (n.*5272C>A) c.*3C>A (n.*3C>A) c.419C>A (p.Ala140Glu) c.962C>A (p.Ala321Glu) c.188C>A (p.Ala63Glu) n.5625C>A n.5666C>A | ClinVar dbSNP gnomAD v4 |
17 | g.43045781_43045782delinsCT | CA1139665549 | BRCA1 | c.5485_5486delinsAG (p.Ala1829Arg) c.5488_5489delinsAG (p.Ala1830Arg) c.5362_5363delinsAG (p.Ala1788Arg) c.5482_5483delinsAG (p.Ala1828Arg) c.5410_5411delinsAG (p.Ala1804Arg) c.2176_2177delinsAG (p.Ala726Arg) c.2038_2039delinsAG (p.Ala680Arg) c.4600_4601delinsAG (p.Ala1534Arg) c.5365_5366delinsAG (p.Ala1789Arg) c.5554_5555delinsAG (p.Ala1852Arg) c.5347_5348delinsAG (p.Ala1783Arg) c.2050_2051delinsAG (p.Ala684Arg) n.1371_1372delinsAG n.852_853delinsAG c.5551_5552delinsAG (p.Ala1851Arg) c.1875_1876delinsAG c.2062_2063delinsAG (p.Ala688Arg) c.*5271_*5272delinsAG (n.*5271_*5272delinsAG) c.*2_*3delinsAG (n.*2_*3delinsAG) c.418_419delinsAG (p.Ala140Arg) c.961_962delinsAG (p.Ala321Arg) c.187_188delinsAG (p.Ala63Arg) n.5624_5625delinsAG n.5665_5666delinsAG | ClinVar dbSNP |
17 | g.43045781_43045782delinsGC | CA2260761137 | BRCA1 | c.5485_5486delinsGC (p.Ala1829=) c.5488_5489delinsGC (p.Ala1830=) c.5362_5363delinsGC (p.Ala1788=) c.5482_5483delinsGC (p.Ala1828=) c.5410_5411delinsGC (p.Ala1804=) c.2176_2177delinsGC (p.Ala726=) c.2038_2039delinsGC (p.Ala680=) c.4600_4601delinsGC (p.Ala1534=) c.5365_5366delinsGC (p.Ala1789=) c.5554_5555delinsGC (p.Ala1852=) c.5347_5348delinsGC (p.Ala1783=) c.2050_2051delinsGC (p.Ala684=) n.1371_1372delinsGC n.852_853delinsGC c.5551_5552delinsGC (p.Ala1851=) c.1875_1876delinsGC c.2062_2063delinsGC (p.Ala688=) c.*5271_*5272delinsGC (n.*5271_*5272delinsGC) c.*2_*3delinsGC (n.*2_*3delinsGC) c.418_419delinsGC (p.Ala140=) c.961_962delinsGC (p.Ala321=) c.187_188delinsGC (p.Ala63=) n.5624_5625delinsGC n.5665_5666delinsGC | |
17 | g.43045782C>A | CA10590327 | BRCA1 | c.5485G>T (p.Ala1829Ser) c.5488G>T (p.Ala1830Ser) c.5362G>T (p.Ala1788Ser) c.5482G>T (p.Ala1828Ser) c.5410G>T (p.Ala1804Ser) c.2176G>T (p.Ala726Ser) c.2038G>T (p.Ala680Ser) c.4600G>T (p.Ala1534Ser) c.5365G>T (p.Ala1789Ser) c.5554G>T (p.Ala1852Ser) c.5347G>T (p.Ala1783Ser) c.2050G>T (p.Ala684Ser) n.1371G>T n.852G>T c.5551G>T (p.Ala1851Ser) c.1875G>T c.2062G>T (p.Ala688Ser) c.*5271G>T (n.*5271G>T) c.*2G>T (n.*2G>T) c.418G>T (p.Ala140Ser) c.961G>T (p.Ala321Ser) c.187G>T (p.Ala63Ser) n.5624G>T n.5665G>T | ClinVar dbSNP |
17 | g.43045782C= | CA2260761138 | BRCA1 | c.5485G= (p.Ala1829=) c.5488G= (p.Ala1830=) c.5362G= (p.Ala1788=) c.5482G= (p.Ala1828=) c.5410G= (p.Ala1804=) c.2176G= (p.Ala726=) c.2038G= (p.Ala680=) c.4600G= (p.Ala1534=) c.5365G= (p.Ala1789=) c.5554G= (p.Ala1852=) c.5347G= (p.Ala1783=) c.2050G= (p.Ala684=) n.1371G= n.852G= c.5551G= (p.Ala1851=) c.1875G= c.2062G= (p.Ala688=) c.*5271G= (n.*5271G=) c.*2G= (n.*2G=) c.418G= (p.Ala140=) c.961G= (p.Ala321=) c.187G= (p.Ala63=) n.5624G= n.5665G= | |
17 | g.43045782C>G | CA10590328 | BRCA1 | c.5485G>C (p.Ala1829Pro) c.5488G>C (p.Ala1830Pro) c.5362G>C (p.Ala1788Pro) c.5482G>C (p.Ala1828Pro) c.5410G>C (p.Ala1804Pro) c.2176G>C (p.Ala726Pro) c.2038G>C (p.Ala680Pro) c.4600G>C (p.Ala1534Pro) c.5365G>C (p.Ala1789Pro) c.5554G>C (p.Ala1852Pro) c.5347G>C (p.Ala1783Pro) c.2050G>C (p.Ala684Pro) n.1371G>C n.852G>C c.5551G>C (p.Ala1851Pro) c.1875G>C c.2062G>C (p.Ala688Pro) c.*5271G>C (n.*5271G>C) c.*2G>C (n.*2G>C) c.418G>C (p.Ala140Pro) c.961G>C (p.Ala321Pro) c.187G>C (p.Ala63Pro) n.5624G>C n.5665G>C | ClinVar dbSNP |
17 | g.43045782C>T | CA003657 | BRCA1 | c.5485G>A (p.Ala1829Thr) c.5488G>A (p.Ala1830Thr) c.5362G>A (p.Ala1788Thr) c.5482G>A (p.Ala1828Thr) c.5410G>A (p.Ala1804Thr) c.2176G>A (p.Ala726Thr) c.2038G>A (p.Ala680Thr) c.4600G>A (p.Ala1534Thr) c.5365G>A (p.Ala1789Thr) c.5554G>A (p.Ala1852Thr) c.5347G>A (p.Ala1783Thr) c.2050G>A (p.Ala684Thr) n.1371G>A n.852G>A c.5551G>A (p.Ala1851Thr) c.1875G>A c.2062G>A (p.Ala688Thr) c.*5271G>A (n.*5271G>A) c.*2G>A (n.*2G>A) c.418G>A (p.Ala140Thr) c.961G>A (p.Ala321Thr) c.187G>A (p.Ala63Thr) n.5624G>A n.5665G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045783C>A | CA10590329 | BRCA1 | c.5484G>T (p.Glu1828Asp) c.5487G>T (p.Glu1829Asp) c.5361G>T (p.Glu1787Asp) c.5481G>T (p.Glu1827Asp) c.5409G>T (p.Glu1803Asp) c.2175G>T (p.Glu725Asp) c.2037G>T (p.Glu679Asp) c.4599G>T (p.Glu1533Asp) c.5364G>T (p.Glu1788Asp) c.5553G>T (p.Glu1851Asp) c.5346G>T (p.Glu1782Asp) c.2049G>T (p.Glu683Asp) n.1370G>T n.851G>T c.5550G>T (p.Glu1850Asp) c.1874G>T c.2061G>T (p.Glu687Asp) c.*5270G>T (n.*5270G>T) c.*1G>T (n.*1G>T) c.417G>T (p.Glu139Asp) c.960G>T (p.Glu320Asp) c.186G>T (p.Glu62Asp) n.5623G>T n.5664G>T | ClinVar dbSNP |
17 | g.43045783C= | CA2260761139 | BRCA1 | c.5484G= (p.Glu1828=) c.5487G= (p.Glu1829=) c.5361G= (p.Glu1787=) c.5481G= (p.Glu1827=) c.5409G= (p.Glu1803=) c.2175G= (p.Glu725=) c.2037G= (p.Glu679=) c.4599G= (p.Glu1533=) c.5364G= (p.Glu1788=) c.5553G= (p.Glu1851=) c.5346G= (p.Glu1782=) c.2049G= (p.Glu683=) n.1370G= n.851G= c.5550G= (p.Glu1850=) c.1874G= c.2061G= (p.Glu687=) c.*5270G= (n.*5270G=) c.*1G= (n.*1G=) c.417G= (p.Glu139=) c.960G= (p.Glu320=) c.186G= (p.Glu62=) n.5623G= n.5664G= | |
17 | g.43045783C>G | CA10590330 | BRCA1 | c.5484G>C (p.Glu1828Asp) c.5487G>C (p.Glu1829Asp) c.5361G>C (p.Glu1787Asp) c.5481G>C (p.Glu1827Asp) c.5409G>C (p.Glu1803Asp) c.2175G>C (p.Glu725Asp) c.2037G>C (p.Glu679Asp) c.4599G>C (p.Glu1533Asp) c.5364G>C (p.Glu1788Asp) c.5553G>C (p.Glu1851Asp) c.5346G>C (p.Glu1782Asp) c.2049G>C (p.Glu683Asp) n.1370G>C n.851G>C c.5550G>C (p.Glu1850Asp) c.1874G>C c.2061G>C (p.Glu687Asp) c.*5270G>C (n.*5270G>C) c.*1G>C (n.*1G>C) c.417G>C (p.Glu139Asp) c.960G>C (p.Glu320Asp) c.186G>C (p.Glu62Asp) n.5623G>C n.5664G>C | ClinVar dbSNP |
17 | g.43045783C>T | CA500142949 | BRCA1 | c.5484G>A (p.Glu1828=) c.5487G>A (p.Glu1829=) c.5361G>A (p.Glu1787=) c.5481G>A (p.Glu1827=) c.5409G>A (p.Glu1803=) c.2175G>A (p.Glu725=) c.2037G>A (p.Glu679=) c.4599G>A (p.Glu1533=) c.5364G>A (p.Glu1788=) c.5553G>A (p.Glu1851=) c.5346G>A (p.Glu1782=) c.2049G>A (p.Glu683=) n.1370G>A n.851G>A c.5550G>A (p.Glu1850=) c.1874G>A c.2061G>A (p.Glu687=) c.*5270G>A (n.*5270G>A) c.*1G>A (n.*1G>A) c.417G>A (p.Glu139=) c.960G>A (p.Glu320=) c.186G>A (p.Glu62=) n.5623G>A n.5664G>A | ClinVar dbSNP |
17 | g.43045784T>A | CA10590331 | BRCA1 | c.5483A>T (p.Glu1828Val) c.5486A>T (p.Glu1829Val) c.5360A>T (p.Glu1787Val) c.5480A>T (p.Glu1827Val) c.5408A>T (p.Glu1803Val) c.2174A>T (p.Glu725Val) c.2036A>T (p.Glu679Val) c.4598A>T (p.Glu1533Val) c.5363A>T (p.Glu1788Val) c.5552A>T (p.Glu1851Val) c.5345A>T (p.Glu1782Val) c.2048A>T (p.Glu683Val) n.1369A>T n.850A>T c.5549A>T (p.Glu1850Val) c.1873A>T c.2060A>T (p.Glu687Val) c.*5269A>T (n.*5269A>T) c.2100A>T (p.Ter700Cys) c.416A>T (p.Glu139Val) c.959A>T (p.Glu320Val) c.185A>T (p.Glu62Val) n.5622A>T n.5663A>T | ClinVar dbSNP |
17 | g.43045784T>C | CA10590333 | BRCA1 | c.5483A>G (p.Glu1828Gly) c.5486A>G (p.Glu1829Gly) c.5360A>G (p.Glu1787Gly) c.5480A>G (p.Glu1827Gly) c.5408A>G (p.Glu1803Gly) c.2174A>G (p.Glu725Gly) c.2036A>G (p.Glu679Gly) c.4598A>G (p.Glu1533Gly) c.5363A>G (p.Glu1788Gly) c.5552A>G (p.Glu1851Gly) c.5345A>G (p.Glu1782Gly) c.2048A>G (p.Glu683Gly) n.1369A>G n.850A>G c.5549A>G (p.Glu1850Gly) c.1873A>G c.2060A>G (p.Glu687Gly) c.*5269A>G (n.*5269A>G) c.2100A>G (p.Ter700Trp) c.416A>G (p.Glu139Gly) c.959A>G (p.Glu320Gly) c.185A>G (p.Glu62Gly) n.5622A>G n.5663A>G | ClinVar dbSNP |
17 | g.43045784T>G | CA10590335 | BRCA1 | c.5483A>C (p.Glu1828Ala) c.5486A>C (p.Glu1829Ala) c.5360A>C (p.Glu1787Ala) c.5480A>C (p.Glu1827Ala) c.5408A>C (p.Glu1803Ala) c.2174A>C (p.Glu725Ala) c.2036A>C (p.Glu679Ala) c.4598A>C (p.Glu1533Ala) c.5363A>C (p.Glu1788Ala) c.5552A>C (p.Glu1851Ala) c.5345A>C (p.Glu1782Ala) c.2048A>C (p.Glu683Ala) n.1369A>C n.850A>C c.5549A>C (p.Glu1850Ala) c.1873A>C c.2060A>C (p.Glu687Ala) c.*5269A>C (n.*5269A>C) c.2100A>C (p.Ter700Cys) c.416A>C (p.Glu139Ala) c.959A>C (p.Glu320Ala) c.185A>C (p.Glu62Ala) n.5622A>C n.5663A>C | ClinVar dbSNP |
17 | g.43045784T= | CA2260761140 | BRCA1 | c.5483A= (p.Glu1828=) c.5486A= (p.Glu1829=) c.5360A= (p.Glu1787=) c.5480A= (p.Glu1827=) c.5408A= (p.Glu1803=) c.2174A= (p.Glu725=) c.2036A= (p.Glu679=) c.4598A= (p.Glu1533=) c.5363A= (p.Glu1788=) c.5552A= (p.Glu1851=) c.5345A= (p.Glu1782=) c.2048A= (p.Glu683=) n.1369A= n.850A= c.5549A= (p.Glu1850=) c.1873A= c.2060A= (p.Glu687=) c.*5269A= (n.*5269A=) c.2100A= (p.Ter700=) c.416A= (p.Glu139=) c.959A= (p.Glu320=) c.185A= (p.Glu62=) n.5622A= n.5663A= | |
17 | g.43045784_43045786delinsTCA | CA2260761141 | BRCA1 | c.5481_5483delinsTGA (p.Cys1827=) c.5484_5486delinsTGA (p.Cys1828=) c.5358_5360delinsTGA (p.Cys1786=) c.5478_5480delinsTGA (p.Cys1826=) c.5406_5408delinsTGA (p.Cys1802=) c.2172_2174delinsTGA (p.Cys724=) c.2034_2036delinsTGA (p.Cys678=) c.4596_4598delinsTGA (p.Cys1532=) c.5361_5363delinsTGA (p.Cys1787=) c.5550_5552delinsTGA (p.Cys1850=) c.5343_5345delinsTGA (p.Cys1781=) c.2046_2048delinsTGA (p.Cys682=) n.1367_1369delinsTGA n.848_850delinsTGA c.5547_5549delinsTGA (p.Cys1849=) c.1871_1873delinsTGA c.2058_2060delinsTGA (p.Cys686=) c.*5267_*5269delinsTGA (n.*5267_*5269delinsTGA) c.2098_2100delinsTGA (p.Ter700=) c.414_416delinsTGA (p.Cys138=) c.957_959delinsTGA (p.Cys319=) c.183_185delinsTGA (p.Cys61=) n.5620_5622delinsTGA n.5661_5663delinsTGA | |
17 | g.43045785del | CA2695226107 | BRCA1 | c.5482del (p.Glu1828ArgfsTer5) c.5485del (p.Glu1829ArgfsTer5) c.5359del (p.Glu1787ArgfsTer5) c.5479del (p.Glu1827ArgfsTer5) c.5407del (p.Glu1803ArgfsTer5) c.2173del (p.Glu725ArgfsTer5) c.2035del (p.Glu679ArgfsTer5) c.4597del (p.Glu1533ArgfsTer5) c.5362del (p.Glu1788ArgfsTer5) c.5551del (p.Glu1851ArgfsTer5) c.5344del (p.Glu1782ArgfsTer5) c.2047del (p.Glu683ArgfsTer5) n.1368del n.849del c.5548del (p.Glu1850ArgfsTer5) c.1872del c.2059del (p.Glu687ArgfsTer5) c.*5268del (n.*5268del) c.2099del (p.Ter700=) c.415del (p.Glu139ArgfsTer5) c.958del (p.Glu320ArgfsTer5) c.184del (p.Glu62ArgfsTer5) n.5621del n.5662del | |
17 | g.43045785C>A | CA10590337 | BRCA1 | c.5482G>T (p.Glu1828Ter) c.5485G>T (p.Glu1829Ter) c.5359G>T (p.Glu1787Ter) c.5479G>T (p.Glu1827Ter) c.5407G>T (p.Glu1803Ter) c.2173G>T (p.Glu725Ter) c.2035G>T (p.Glu679Ter) c.4597G>T (p.Glu1533Ter) c.5362G>T (p.Glu1788Ter) c.5551G>T (p.Glu1851Ter) c.5344G>T (p.Glu1782Ter) c.2047G>T (p.Glu683Ter) n.1368G>T n.849G>T c.5548G>T (p.Glu1850Ter) c.1872G>T c.2059G>T (p.Glu687Ter) c.*5268G>T (n.*5268G>T) c.2099G>T (p.Ter700Leu) c.415G>T (p.Glu139Ter) c.958G>T (p.Glu320Ter) c.184G>T (p.Glu62Ter) n.5621G>T n.5662G>T | ClinVar dbSNP |
17 | g.43045785C= | CA2260761142 | BRCA1 | c.5482G= (p.Glu1828=) c.5485G= (p.Glu1829=) c.5359G= (p.Glu1787=) c.5479G= (p.Glu1827=) c.5407G= (p.Glu1803=) c.2173G= (p.Glu725=) c.2035G= (p.Glu679=) c.4597G= (p.Glu1533=) c.5362G= (p.Glu1788=) c.5551G= (p.Glu1851=) c.5344G= (p.Glu1782=) c.2047G= (p.Glu683=) n.1368G= n.849G= c.5548G= (p.Glu1850=) c.1872G= c.2059G= (p.Glu687=) c.*5268G= (n.*5268G=) c.2099G= (p.Ter700=) c.415G= (p.Glu139=) c.958G= (p.Glu320=) c.184G= (p.Glu62=) n.5621G= n.5662G= | |
17 | g.43045785C>G | CA10590339 | BRCA1 | c.5482G>C (p.Glu1828Gln) c.5485G>C (p.Glu1829Gln) c.5359G>C (p.Glu1787Gln) c.5479G>C (p.Glu1827Gln) c.5407G>C (p.Glu1803Gln) c.2173G>C (p.Glu725Gln) c.2035G>C (p.Glu679Gln) c.4597G>C (p.Glu1533Gln) c.5362G>C (p.Glu1788Gln) c.5551G>C (p.Glu1851Gln) c.5344G>C (p.Glu1782Gln) c.2047G>C (p.Glu683Gln) n.1368G>C n.849G>C c.5548G>C (p.Glu1850Gln) c.1872G>C c.2059G>C (p.Glu687Gln) c.*5268G>C (n.*5268G>C) c.2099G>C (p.Ter700Ser) c.415G>C (p.Glu139Gln) c.958G>C (p.Glu320Gln) c.184G>C (p.Glu62Gln) n.5621G>C n.5662G>C | ClinVar dbSNP |
17 | g.43045785C>T | CA10576080 | BRCA1 | c.5482G>A (p.Glu1828Lys) c.5485G>A (p.Glu1829Lys) c.5359G>A (p.Glu1787Lys) c.5479G>A (p.Glu1827Lys) c.5407G>A (p.Glu1803Lys) c.2173G>A (p.Glu725Lys) c.2035G>A (p.Glu679Lys) c.4597G>A (p.Glu1533Lys) c.5362G>A (p.Glu1788Lys) c.5551G>A (p.Glu1851Lys) c.5344G>A (p.Glu1782Lys) c.2047G>A (p.Glu683Lys) n.1368G>A n.849G>A c.5548G>A (p.Glu1850Lys) c.1872G>A c.2059G>A (p.Glu687Lys) c.*5268G>A (n.*5268G>A) c.2099G>A (p.Ter700=) c.415G>A (p.Glu139Lys) c.958G>A (p.Glu320Lys) c.184G>A (p.Glu62Lys) n.5621G>A n.5662G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43045785dup | CA8589943 | BRCA1 | c.5482dup (p.Glu1828GlyfsTer?) c.5485dup (p.Glu1829GlyfsTer?) c.5359dup (p.Glu1787GlyfsTer?) c.5479dup (p.Glu1827GlyfsTer?) c.5407dup (p.Glu1803GlyfsTer?) c.2173dup (p.Glu725GlyfsTer?) c.2035dup (p.Glu679GlyfsTer?) c.4597dup (p.Glu1533GlyfsTer?) c.5362dup (p.Glu1788GlyfsTer?) c.5551dup (p.Glu1851GlyfsTer?) c.5344dup (p.Glu1782GlyfsTer?) c.2047dup (p.Glu683GlyfsTer?) n.1368dup n.849dup c.5548dup (p.Glu1850GlyfsTer?) c.1872dup c.2059dup (p.Glu687GlyfsTer?) c.*5268dup (n.*5268dup) c.2099dup (p.Ter700TrpextTer6) c.415dup (p.Glu139GlyfsTer?) c.958dup (p.Glu320GlyfsTer?) c.184dup (p.Glu62GlyfsTer?) n.5621dup n.5662dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045789_43045790del | CA10586599 | BRCA1 | c.5481_5482del (p.Cys1827Ter) c.5484_5485del (p.Cys1828Ter) c.5358_5359del (p.Cys1786Ter) c.5478_5479del (p.Cys1826Ter) c.5406_5407del (p.Cys1802Ter) c.2172_2173del (p.Cys724Ter) c.2034_2035del (p.Cys678Ter) c.4596_4597del (p.Cys1532Ter) c.5361_5362del (p.Cys1787Ter) c.5550_5551del (p.Cys1850Ter) c.5343_5344del (p.Cys1781Ter) c.2046_2047del (p.Cys682Ter) n.1367_1368del n.848_849del c.5547_5548del (p.Cys1849Ter) c.1871_1872del c.2058_2059del (p.Cys686Ter) c.*5267_*5268del (n.*5267_*5268del) c.2098_2099del (p.Ter700ArgextTer5) c.414_415del (p.Cys138Ter) c.957_958del (p.Cys319Ter) c.183_184del (p.Cys61Ter) n.5620_5621del n.5661_5662del | ClinVar dbSNP |
17 | g.43045786A= | CA2260761144 | BRCA1 | c.5481T= (p.Cys1827=) c.5484T= (p.Cys1828=) c.5358T= (p.Cys1786=) c.5478T= (p.Cys1826=) c.5406T= (p.Cys1802=) c.2172T= (p.Cys724=) c.2034T= (p.Cys678=) c.4596T= (p.Cys1532=) c.5361T= (p.Cys1787=) c.5550T= (p.Cys1850=) c.5343T= (p.Cys1781=) c.2046T= (p.Cys682=) n.1367T= n.848T= c.5547T= (p.Cys1849=) c.1871T= c.2058T= (p.Cys686=) c.*5267T= (n.*5267T=) c.2098T= (p.Ter700=) c.414T= (p.Cys138=) c.957T= (p.Cys319=) c.183T= (p.Cys61=) n.5620T= n.5661T= | |
17 | g.43045786A>C | CA10590341 | BRCA1 | c.5481T>G (p.Cys1827Trp) c.5484T>G (p.Cys1828Trp) c.5358T>G (p.Cys1786Trp) c.5478T>G (p.Cys1826Trp) c.5406T>G (p.Cys1802Trp) c.2172T>G (p.Cys724Trp) c.2034T>G (p.Cys678Trp) c.4596T>G (p.Cys1532Trp) c.5361T>G (p.Cys1787Trp) c.5550T>G (p.Cys1850Trp) c.5343T>G (p.Cys1781Trp) c.2046T>G (p.Cys682Trp) n.1367T>G n.848T>G c.5547T>G (p.Cys1849Trp) c.1871T>G c.2058T>G (p.Cys686Trp) c.*5267T>G (n.*5267T>G) c.2098T>G (p.Ter700Gly) c.414T>G (p.Cys138Trp) c.957T>G (p.Cys319Trp) c.183T>G (p.Cys61Trp) n.5620T>G n.5661T>G | ClinVar dbSNP |
17 | g.43045786A>G | CA10590343 | BRCA1 | c.5481T>C (p.Cys1827=) c.5484T>C (p.Cys1828=) c.5358T>C (p.Cys1786=) c.5478T>C (p.Cys1826=) c.5406T>C (p.Cys1802=) c.2172T>C (p.Cys724=) c.2034T>C (p.Cys678=) c.4596T>C (p.Cys1532=) c.5361T>C (p.Cys1787=) c.5550T>C (p.Cys1850=) c.5343T>C (p.Cys1781=) c.2046T>C (p.Cys682=) n.1367T>C n.848T>C c.5547T>C (p.Cys1849=) c.1871T>C c.2058T>C (p.Cys686=) c.*5267T>C (n.*5267T>C) c.2098T>C (p.Ter700Arg) c.414T>C (p.Cys138=) c.957T>C (p.Cys319=) c.183T>C (p.Cys61=) n.5620T>C n.5661T>C | ClinVar dbSNP |
17 | g.43045786A>T | CA10590344 | BRCA1 | c.5481T>A (p.Cys1827Ter) c.5484T>A (p.Cys1828Ter) c.5358T>A (p.Cys1786Ter) c.5478T>A (p.Cys1826Ter) c.5406T>A (p.Cys1802Ter) c.2172T>A (p.Cys724Ter) c.2034T>A (p.Cys678Ter) c.4596T>A (p.Cys1532Ter) c.5361T>A (p.Cys1787Ter) c.5550T>A (p.Cys1850Ter) c.5343T>A (p.Cys1781Ter) c.2046T>A (p.Cys682Ter) n.1367T>A n.848T>A c.5547T>A (p.Cys1849Ter) c.1871T>A c.2058T>A (p.Cys686Ter) c.*5267T>A (n.*5267T>A) c.2098T>A (p.Ter700Arg) c.414T>A (p.Cys138Ter) c.957T>A (p.Cys319Ter) c.183T>A (p.Cys61Ter) n.5620T>A n.5661T>A | ClinVar dbSNP |
17 | g.43045786dup | CA2582342188 | BRCA1 | c.5481dup (p.Glu1828Ter) c.5484dup (p.Glu1829Ter) c.5358dup (p.Glu1787Ter) c.5478dup (p.Glu1827Ter) c.5406dup (p.Glu1803Ter) c.2172dup (p.Glu725Ter) c.2034dup (p.Glu679Ter) c.4596dup (p.Glu1533Ter) c.5361dup (p.Glu1788Ter) c.5550dup (p.Glu1851Ter) c.5343dup (p.Glu1782Ter) c.2046dup (p.Glu683Ter) n.1367dup n.848dup c.5547dup (p.Glu1850Ter) c.1871dup c.2058dup (p.Glu687Ter) c.*5267dup (n.*5267dup) c.2098dup (p.Ter700LeuextTer6) c.414dup (p.Glu139Ter) c.957dup (p.Glu320Ter) c.183dup (p.Glu62Ter) n.5620dup n.5661dup | ClinVar |
17 | g.43045786_43045787delinsAC | CA2260761143 | BRCA1 | c.5480_5481delinsGT (p.Cys1827=) c.5483_5484delinsGT (p.Cys1828=) c.5357_5358delinsGT (p.Cys1786=) c.5477_5478delinsGT (p.Cys1826=) c.5405_5406delinsGT (p.Cys1802=) c.2171_2172delinsGT (p.Cys724=) c.2033_2034delinsGT (p.Cys678=) c.4595_4596delinsGT (p.Cys1532=) c.5360_5361delinsGT (p.Cys1787=) c.5549_5550delinsGT (p.Cys1850=) c.5342_5343delinsGT (p.Cys1781=) c.2045_2046delinsGT (p.Cys682=) n.1366_1367delinsGT n.847_848delinsGT c.5546_5547delinsGT (p.Cys1849=) c.1870_1871delinsGT c.2057_2058delinsGT (p.Cys686=) c.*5266_*5267delinsGT (n.*5266_*5267delinsGT) c.2097_2098delinsGT (p.Val699=) c.413_414delinsGT (p.Cys138=) c.956_957delinsGT (p.Cys319=) c.182_183delinsGT (p.Cys61=) n.5619_5620delinsGT n.5660_5661delinsGT | |
17 | g.43045787del | CA003652 | BRCA1 | c.5480del (p.Cys1827LeufsTer6) c.5483del (p.Cys1828LeufsTer6) c.5357del (p.Cys1786LeufsTer6) c.5477del (p.Cys1826LeufsTer6) c.5405del (p.Cys1802LeufsTer6) c.2171del (p.Cys724LeufsTer6) c.2033del (p.Cys678LeufsTer6) c.4595del (p.Cys1532LeufsTer6) c.5360del (p.Cys1787LeufsTer6) c.5549del (p.Cys1850LeufsTer6) c.5342del (p.Cys1781LeufsTer6) c.2045del (p.Cys682LeufsTer6) n.1366del n.847del c.5546del (p.Cys1849LeufsTer6) c.1870del c.2057del (p.Cys686LeufsTer6) c.*5266del (n.*5266del) c.2097del (p.Ter700GluextTer?) c.413del (p.Cys138LeufsTer6) c.956del (p.Cys319LeufsTer6) c.182del (p.Cys61LeufsTer6) n.5619del n.5660del | ClinVar dbSNP |
17 | g.43045787C>A | CA10590346 | BRCA1 | c.5480G>T (p.Cys1827Phe) c.5483G>T (p.Cys1828Phe) c.5357G>T (p.Cys1786Phe) c.5477G>T (p.Cys1826Phe) c.5405G>T (p.Cys1802Phe) c.2171G>T (p.Cys724Phe) c.2033G>T (p.Cys678Phe) c.4595G>T (p.Cys1532Phe) c.5360G>T (p.Cys1787Phe) c.5549G>T (p.Cys1850Phe) c.5342G>T (p.Cys1781Phe) c.2045G>T (p.Cys682Phe) n.1366G>T n.847G>T c.5546G>T (p.Cys1849Phe) c.1870G>T c.2057G>T (p.Cys686Phe) c.*5266G>T (n.*5266G>T) c.2097G>T (p.Val699=) c.413G>T (p.Cys138Phe) c.956G>T (p.Cys319Phe) c.182G>T (p.Cys61Phe) n.5619G>T n.5660G>T | ClinVar dbSNP |
17 | g.43045787C= | CA2260761145 | BRCA1 | c.5480G= (p.Cys1827=) c.5483G= (p.Cys1828=) c.5357G= (p.Cys1786=) c.5477G= (p.Cys1826=) c.5405G= (p.Cys1802=) c.2171G= (p.Cys724=) c.2033G= (p.Cys678=) c.4595G= (p.Cys1532=) c.5360G= (p.Cys1787=) c.5549G= (p.Cys1850=) c.5342G= (p.Cys1781=) c.2045G= (p.Cys682=) n.1366G= n.847G= c.5546G= (p.Cys1849=) c.1870G= c.2057G= (p.Cys686=) c.*5266G= (n.*5266G=) c.2097G= (p.Val699=) c.413G= (p.Cys138=) c.956G= (p.Cys319=) c.182G= (p.Cys61=) n.5619G= n.5660G= | |
17 | g.43045787C>G | CA10590347 | BRCA1 | c.5480G>C (p.Cys1827Ser) c.5483G>C (p.Cys1828Ser) c.5357G>C (p.Cys1786Ser) c.5477G>C (p.Cys1826Ser) c.5405G>C (p.Cys1802Ser) c.2171G>C (p.Cys724Ser) c.2033G>C (p.Cys678Ser) c.4595G>C (p.Cys1532Ser) c.5360G>C (p.Cys1787Ser) c.5549G>C (p.Cys1850Ser) c.5342G>C (p.Cys1781Ser) c.2045G>C (p.Cys682Ser) n.1366G>C n.847G>C c.5546G>C (p.Cys1849Ser) c.1870G>C c.2057G>C (p.Cys686Ser) c.*5266G>C (n.*5266G>C) c.2097G>C (p.Val699=) c.413G>C (p.Cys138Ser) c.956G>C (p.Cys319Ser) c.182G>C (p.Cys61Ser) n.5619G>C n.5660G>C | ClinVar dbSNP |
17 | g.43045787C>T | CA10590348 | BRCA1 | c.5480G>A (p.Cys1827Tyr) c.5483G>A (p.Cys1828Tyr) c.5357G>A (p.Cys1786Tyr) c.5477G>A (p.Cys1826Tyr) c.5405G>A (p.Cys1802Tyr) c.2171G>A (p.Cys724Tyr) c.2033G>A (p.Cys678Tyr) c.4595G>A (p.Cys1532Tyr) c.5360G>A (p.Cys1787Tyr) c.5549G>A (p.Cys1850Tyr) c.5342G>A (p.Cys1781Tyr) c.2045G>A (p.Cys682Tyr) n.1366G>A n.847G>A c.5546G>A (p.Cys1849Tyr) c.1870G>A c.2057G>A (p.Cys686Tyr) c.*5266G>A (n.*5266G>A) c.2097G>A (p.Val699=) c.413G>A (p.Cys138Tyr) c.956G>A (p.Cys319Tyr) c.182G>A (p.Cys61Tyr) n.5619G>A n.5660G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43045788A= | CA2260761146 | BRCA1 | c.5479T= (p.Cys1827=) c.5482T= (p.Cys1828=) c.5356T= (p.Cys1786=) c.5476T= (p.Cys1826=) c.5404T= (p.Cys1802=) c.2170T= (p.Cys724=) c.2032T= (p.Cys678=) c.4594T= (p.Cys1532=) c.5359T= (p.Cys1787=) c.5548T= (p.Cys1850=) c.5341T= (p.Cys1781=) c.2044T= (p.Cys682=) n.1365T= n.846T= c.5545T= (p.Cys1849=) c.1869T= c.2056T= (p.Cys686=) c.*5265T= (n.*5265T=) c.2096T= (p.Val699=) c.412T= (p.Cys138=) c.955T= (p.Cys319=) c.181T= (p.Cys61=) n.5618T= n.5659T= | |
17 | g.43045788A>C | CA10590349 | BRCA1 | c.5479T>G (p.Cys1827Gly) c.5482T>G (p.Cys1828Gly) c.5356T>G (p.Cys1786Gly) c.5476T>G (p.Cys1826Gly) c.5404T>G (p.Cys1802Gly) c.2170T>G (p.Cys724Gly) c.2032T>G (p.Cys678Gly) c.4594T>G (p.Cys1532Gly) c.5359T>G (p.Cys1787Gly) c.5548T>G (p.Cys1850Gly) c.5341T>G (p.Cys1781Gly) c.2044T>G (p.Cys682Gly) n.1365T>G n.846T>G c.5545T>G (p.Cys1849Gly) c.1869T>G c.2056T>G (p.Cys686Gly) c.*5265T>G (n.*5265T>G) c.2096T>G (p.Val699Gly) c.412T>G (p.Cys138Gly) c.955T>G (p.Cys319Gly) c.181T>G (p.Cys61Gly) n.5618T>G n.5659T>G | ClinVar dbSNP gnomAD v4 |
17 | g.43045788A>G | CA10590351 | BRCA1 | c.5479T>C (p.Cys1827Arg) c.5482T>C (p.Cys1828Arg) c.5356T>C (p.Cys1786Arg) c.5476T>C (p.Cys1826Arg) c.5404T>C (p.Cys1802Arg) c.2170T>C (p.Cys724Arg) c.2032T>C (p.Cys678Arg) c.4594T>C (p.Cys1532Arg) c.5359T>C (p.Cys1787Arg) c.5548T>C (p.Cys1850Arg) c.5341T>C (p.Cys1781Arg) c.2044T>C (p.Cys682Arg) n.1365T>C n.846T>C c.5545T>C (p.Cys1849Arg) c.1869T>C c.2056T>C (p.Cys686Arg) c.*5265T>C (n.*5265T>C) c.2096T>C (p.Val699Ala) c.412T>C (p.Cys138Arg) c.955T>C (p.Cys319Arg) c.181T>C (p.Cys61Arg) n.5618T>C n.5659T>C | ClinVar dbSNP |
17 | g.43045788A>T | CA10590353 | BRCA1 | c.5479T>A (p.Cys1827Ser) c.5482T>A (p.Cys1828Ser) c.5356T>A (p.Cys1786Ser) c.5476T>A (p.Cys1826Ser) c.5404T>A (p.Cys1802Ser) c.2170T>A (p.Cys724Ser) c.2032T>A (p.Cys678Ser) c.4594T>A (p.Cys1532Ser) c.5359T>A (p.Cys1787Ser) c.5548T>A (p.Cys1850Ser) c.5341T>A (p.Cys1781Ser) c.2044T>A (p.Cys682Ser) n.1365T>A n.846T>A c.5545T>A (p.Cys1849Ser) c.1869T>A c.2056T>A (p.Cys686Ser) c.*5265T>A (n.*5265T>A) c.2096T>A (p.Val699Glu) c.412T>A (p.Cys138Ser) c.955T>A (p.Cys319Ser) c.181T>A (p.Cys61Ser) n.5618T>A n.5659T>A | ClinVar dbSNP |
17 | g.43045788_43045796delinsACATCTGCC | CA2260761147 | BRCA1 | c.5471_5479delinsGGCAGATGT (p.Gly1824=) c.5474_5482delinsGGCAGATGT (p.Gly1825=) c.5348_5356delinsGGCAGATGT (p.Gly1783=) c.5468_5476delinsGGCAGATGT (p.Gly1823=) c.5396_5404delinsGGCAGATGT (p.Gly1799=) c.2162_2170delinsGGCAGATGT (p.Gly721=) c.2024_2032delinsGGCAGATGT (p.Gly675=) c.4586_4594delinsGGCAGATGT (p.Gly1529=) c.5351_5359delinsGGCAGATGT (p.Gly1784=) c.5540_5548delinsGGCAGATGT (p.Gly1847=) c.5333_5341delinsGGCAGATGT (p.Gly1778=) c.2036_2044delinsGGCAGATGT (p.Gly679=) n.1357_1365delinsGGCAGATGT n.838_846delinsGGCAGATGT c.5537_5545delinsGGCAGATGT (p.Gly1846=) c.1861_1869delinsGGCAGATGT c.2048_2056delinsGGCAGATGT (p.Gly683=) c.*5257_*5265delinsGGCAGATGT (n.*5257_*5265delinsGGCAGATGT) c.2088_2096delinsGGCAGATGT (p.Trp696=) c.404_412delinsGGCAGATGT (p.Gly135=) c.947_955delinsGGCAGATGT (p.Gly316=) c.173_181delinsGGCAGATGT (p.Gly58=) n.5610_5618delinsGGCAGATGT n.5651_5659delinsGGCAGATGT | |
17 | g.43045789C>A | CA10590355 | BRCA1 | c.5478G>T (p.Met1826Ile) c.5481G>T (p.Met1827Ile) c.5355G>T (p.Met1785Ile) c.5475G>T (p.Met1825Ile) c.5403G>T (p.Met1801Ile) c.2169G>T (p.Met723Ile) c.2031G>T (p.Met677Ile) c.4593G>T (p.Met1531Ile) c.5358G>T (p.Met1786Ile) c.5547G>T (p.Met1849Ile) c.5340G>T (p.Met1780Ile) c.2043G>T (p.Met681Ile) n.1364G>T n.845G>T c.5544G>T (p.Met1848Ile) c.1868G>T c.2055G>T (p.Met685Ile) c.*5264G>T (n.*5264G>T) c.2095G>T (p.Val699Leu) c.411G>T (p.Met137Ile) c.954G>T (p.Met318Ile) c.180G>T (p.Met60Ile) n.5617G>T n.5658G>T | ClinVar dbSNP |
17 | g.43045789C= | CA2260761148 | BRCA1 | c.5478G= (p.Met1826=) c.5481G= (p.Met1827=) c.5355G= (p.Met1785=) c.5475G= (p.Met1825=) c.5403G= (p.Met1801=) c.2169G= (p.Met723=) c.2031G= (p.Met677=) c.4593G= (p.Met1531=) c.5358G= (p.Met1786=) c.5547G= (p.Met1849=) c.5340G= (p.Met1780=) c.2043G= (p.Met681=) n.1364G= n.845G= c.5544G= (p.Met1848=) c.1868G= c.2055G= (p.Met685=) c.*5264G= (n.*5264G=) c.2095G= (p.Val699=) c.411G= (p.Met137=) c.954G= (p.Met318=) c.180G= (p.Met60=) n.5617G= n.5658G= | |
17 | g.43045789C>G | CA10590357 | BRCA1 | c.5478G>C (p.Met1826Ile) c.5481G>C (p.Met1827Ile) c.5355G>C (p.Met1785Ile) c.5475G>C (p.Met1825Ile) c.5403G>C (p.Met1801Ile) c.2169G>C (p.Met723Ile) c.2031G>C (p.Met677Ile) c.4593G>C (p.Met1531Ile) c.5358G>C (p.Met1786Ile) c.5547G>C (p.Met1849Ile) c.5340G>C (p.Met1780Ile) c.2043G>C (p.Met681Ile) n.1364G>C n.845G>C c.5544G>C (p.Met1848Ile) c.1868G>C c.2055G>C (p.Met685Ile) c.*5264G>C (n.*5264G>C) c.2095G>C (p.Val699Leu) c.411G>C (p.Met137Ile) c.954G>C (p.Met318Ile) c.180G>C (p.Met60Ile) n.5617G>C n.5658G>C | ClinVar dbSNP |
17 | g.43045789C>T | CA003651 | BRCA1 | c.5478G>A (p.Met1826Ile) c.5481G>A (p.Met1827Ile) c.5355G>A (p.Met1785Ile) c.5475G>A (p.Met1825Ile) c.5403G>A (p.Met1801Ile) c.2169G>A (p.Met723Ile) c.2031G>A (p.Met677Ile) c.4593G>A (p.Met1531Ile) c.5358G>A (p.Met1786Ile) c.5547G>A (p.Met1849Ile) c.5340G>A (p.Met1780Ile) c.2043G>A (p.Met681Ile) n.1364G>A n.845G>A c.5544G>A (p.Met1848Ile) c.1868G>A c.2055G>A (p.Met685Ile) c.*5264G>A (n.*5264G>A) c.2095G>A (p.Val699Met) c.411G>A (p.Met137Ile) c.954G>A (p.Met318Ile) c.180G>A (p.Met60Ile) n.5617G>A n.5658G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43045791_43045798del | CA003638 | BRCA1 | c.5471_5478del (p.Gly1824ValfsTer2) c.5474_5481del (p.Gly1825ValfsTer2) c.5348_5355del (p.Gly1783ValfsTer2) c.5468_5475del (p.Gly1823ValfsTer2) c.5396_5403del (p.Gly1799ValfsTer2) c.2162_2169del (p.Gly721ValfsTer2) c.2024_2031del (p.Gly675ValfsTer2) c.4586_4593del (p.Gly1529ValfsTer2) c.5351_5358del (p.Gly1784ValfsTer2) c.5540_5547del (p.Gly1847ValfsTer2) c.5333_5340del (p.Gly1778ValfsTer2) c.2036_2043del (p.Gly679ValfsTer2) n.1357_1364del n.838_845del c.5537_5544del (p.Gly1846ValfsTer2) c.1861_1868del c.2048_2055del (p.Gly683ValfsTer2) c.*5257_*5264del (n.*5257_*5264del) c.2088_2095del (p.Trp696CysfsTer7) c.404_411del (p.Gly135ValfsTer2) c.947_954del (p.Gly316ValfsTer2) c.173_180del (p.Gly58ValfsTer2) n.5610_5617del n.5651_5658del | ClinVar dbSNP |
17 | g.43045790A= | CA2260761149 | BRCA1 | c.5477T= (p.Met1826=) c.5480T= (p.Met1827=) c.5354T= (p.Met1785=) c.5474T= (p.Met1825=) c.5402T= (p.Met1801=) c.2168T= (p.Met723=) c.2030T= (p.Met677=) c.4592T= (p.Met1531=) c.5357T= (p.Met1786=) c.5546T= (p.Met1849=) c.5339T= (p.Met1780=) c.2042T= (p.Met681=) n.1363T= n.844T= c.5543T= (p.Met1848=) c.1867T= c.2054T= (p.Met685=) c.*5263T= (n.*5263T=) c.2094T= (p.Asp698=) c.410T= (p.Met137=) c.953T= (p.Met318=) c.179T= (p.Met60=) n.5616T= n.5657T= | |
17 | g.43045790A>C | CA10590359 | BRCA1 | c.5477T>G (p.Met1826Arg) c.5480T>G (p.Met1827Arg) c.5354T>G (p.Met1785Arg) c.5474T>G (p.Met1825Arg) c.5402T>G (p.Met1801Arg) c.2168T>G (p.Met723Arg) c.2030T>G (p.Met677Arg) c.4592T>G (p.Met1531Arg) c.5357T>G (p.Met1786Arg) c.5546T>G (p.Met1849Arg) c.5339T>G (p.Met1780Arg) c.2042T>G (p.Met681Arg) n.1363T>G n.844T>G c.5543T>G (p.Met1848Arg) c.1867T>G c.2054T>G (p.Met685Arg) c.*5263T>G (n.*5263T>G) c.2094T>G (p.Asp698Glu) c.410T>G (p.Met137Arg) c.953T>G (p.Met318Arg) c.179T>G (p.Met60Arg) n.5616T>G n.5657T>G | ClinVar dbSNP |
17 | g.43045790A>G | CA10590361 | BRCA1 | c.5477T>C (p.Met1826Thr) c.5480T>C (p.Met1827Thr) c.5354T>C (p.Met1785Thr) c.5474T>C (p.Met1825Thr) c.5402T>C (p.Met1801Thr) c.2168T>C (p.Met723Thr) c.2030T>C (p.Met677Thr) c.4592T>C (p.Met1531Thr) c.5357T>C (p.Met1786Thr) c.5546T>C (p.Met1849Thr) c.5339T>C (p.Met1780Thr) c.2042T>C (p.Met681Thr) n.1363T>C n.844T>C c.5543T>C (p.Met1848Thr) c.1867T>C c.2054T>C (p.Met685Thr) c.*5263T>C (n.*5263T>C) c.2094T>C (p.Asp698=) c.410T>C (p.Met137Thr) c.953T>C (p.Met318Thr) c.179T>C (p.Met60Thr) n.5616T>C n.5657T>C | ClinVar dbSNP |
17 | g.43045790A>T | CA10590362 | BRCA1 | c.5477T>A (p.Met1826Lys) c.5480T>A (p.Met1827Lys) c.5354T>A (p.Met1785Lys) c.5474T>A (p.Met1825Lys) c.5402T>A (p.Met1801Lys) c.2168T>A (p.Met723Lys) c.2030T>A (p.Met677Lys) c.4592T>A (p.Met1531Lys) c.5357T>A (p.Met1786Lys) c.5546T>A (p.Met1849Lys) c.5339T>A (p.Met1780Lys) c.2042T>A (p.Met681Lys) n.1363T>A n.844T>A c.5543T>A (p.Met1848Lys) c.1867T>A c.2054T>A (p.Met685Lys) c.*5263T>A (n.*5263T>A) c.2094T>A (p.Asp698Glu) c.410T>A (p.Met137Lys) c.953T>A (p.Met318Lys) c.179T>A (p.Met60Lys) n.5616T>A n.5657T>A | ClinVar dbSNP |
17 | g.43045791T>A | CA10590364 | BRCA1 | c.5476A>T (p.Met1826Leu) c.5479A>T (p.Met1827Leu) c.5353A>T (p.Met1785Leu) c.5473A>T (p.Met1825Leu) c.5401A>T (p.Met1801Leu) c.2167A>T (p.Met723Leu) c.2029A>T (p.Met677Leu) c.4591A>T (p.Met1531Leu) c.5356A>T (p.Met1786Leu) c.5545A>T (p.Met1849Leu) c.5338A>T (p.Met1780Leu) c.2041A>T (p.Met681Leu) n.1362A>T n.843A>T c.5542A>T (p.Met1848Leu) c.1866A>T c.2053A>T (p.Met685Leu) c.*5262A>T (n.*5262A>T) c.2093A>T (p.Asp698Val) c.409A>T (p.Met137Leu) c.952A>T (p.Met318Leu) c.178A>T (p.Met60Leu) n.5615A>T n.5656A>T | ClinVar dbSNP |
17 | g.43045791T>C | CA055189 | BRCA1 | c.5476A>G (p.Met1826Val) c.5479A>G (p.Met1827Val) c.5353A>G (p.Met1785Val) c.5473A>G (p.Met1825Val) c.5401A>G (p.Met1801Val) c.2167A>G (p.Met723Val) c.2029A>G (p.Met677Val) c.4591A>G (p.Met1531Val) c.5356A>G (p.Met1786Val) c.5545A>G (p.Met1849Val) c.5338A>G (p.Met1780Val) c.2041A>G (p.Met681Val) n.1362A>G n.843A>G c.5542A>G (p.Met1848Val) c.1866A>G c.2053A>G (p.Met685Val) c.*5262A>G (n.*5262A>G) c.2093A>G (p.Asp698Gly) c.409A>G (p.Met137Val) c.952A>G (p.Met318Val) c.178A>G (p.Met60Val) n.5615A>G n.5656A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045791T>G | CA10590366 | BRCA1 | c.5476A>C (p.Met1826Leu) c.5479A>C (p.Met1827Leu) c.5353A>C (p.Met1785Leu) c.5473A>C (p.Met1825Leu) c.5401A>C (p.Met1801Leu) c.2167A>C (p.Met723Leu) c.2029A>C (p.Met677Leu) c.4591A>C (p.Met1531Leu) c.5356A>C (p.Met1786Leu) c.5545A>C (p.Met1849Leu) c.5338A>C (p.Met1780Leu) c.2041A>C (p.Met681Leu) n.1362A>C n.843A>C c.5542A>C (p.Met1848Leu) c.1866A>C c.2053A>C (p.Met685Leu) c.*5262A>C (n.*5262A>C) c.2093A>C (p.Asp698Ala) c.409A>C (p.Met137Leu) c.952A>C (p.Met318Leu) c.178A>C (p.Met60Leu) n.5615A>C n.5656A>C | ClinVar dbSNP |
17 | g.43045791T= | CA2260761150 | BRCA1 | c.5476A= (p.Met1826=) c.5479A= (p.Met1827=) c.5353A= (p.Met1785=) c.5473A= (p.Met1825=) c.5401A= (p.Met1801=) c.2167A= (p.Met723=) c.2029A= (p.Met677=) c.4591A= (p.Met1531=) c.5356A= (p.Met1786=) c.5545A= (p.Met1849=) c.5338A= (p.Met1780=) c.2041A= (p.Met681=) n.1362A= n.843A= c.5542A= (p.Met1848=) c.1866A= c.2053A= (p.Met685=) c.*5262A= (n.*5262A=) c.2093A= (p.Asp698=) c.409A= (p.Met137=) c.952A= (p.Met318=) c.178A= (p.Met60=) n.5615A= n.5656A= | |
17 | g.43045792_43045793dup | CA003642 | BRCA1 | c.5475_5476dup (p.Met1826ArgfsTer8) c.5478_5479dup (p.Met1827ArgfsTer8) c.5352_5353dup (p.Met1785ArgfsTer8) c.5472_5473dup (p.Met1825ArgfsTer8) c.5400_5401dup (p.Met1801ArgfsTer8) c.2166_2167dup (p.Met723ArgfsTer8) c.2028_2029dup (p.Met677ArgfsTer8) c.4590_4591dup (p.Met1531ArgfsTer8) c.5355_5356dup (p.Met1786ArgfsTer8) c.5544_5545dup (p.Met1849ArgfsTer8) c.5337_5338dup (p.Met1780ArgfsTer8) c.2040_2041dup (p.Met681ArgfsTer8) n.1361_1362dup n.842_843dup c.5541_5542dup (p.Met1848ArgfsTer8) c.1865_1866dup c.2052_2053dup (p.Met685ArgfsTer8) c.*5261_*5262dup (n.*5261_*5262dup) c.2092_2093dup (p.Asp698GlufsTer?) c.408_409dup (p.Met137ArgfsTer8) c.951_952dup (p.Met318ArgfsTer8) c.177_178dup (p.Met60ArgfsTer8) n.5614_5615dup n.5655_5656dup | ClinVar dbSNP |
17 | g.43045792C>A | CA003641 | BRCA1 | c.5475G>T (p.Gln1825His) c.5478G>T (p.Gln1826His) c.5352G>T (p.Gln1784His) c.5472G>T (p.Gln1824His) c.5400G>T (p.Gln1800His) c.2166G>T (p.Gln722His) c.2028G>T (p.Gln676His) c.4590G>T (p.Gln1530His) c.5355G>T (p.Gln1785His) c.5544G>T (p.Gln1848His) c.5337G>T (p.Gln1779His) c.2040G>T (p.Gln680His) n.1361G>T n.842G>T c.5541G>T (p.Gln1847His) c.1865G>T c.2052G>T (p.Gln684His) c.*5261G>T (n.*5261G>T) c.2092G>T (p.Asp698Tyr) c.408G>T (p.Gln136His) c.951G>T (p.Gln317His) c.177G>T (p.Gln59His) n.5614G>T n.5655G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045792C= | CA2260761151 | BRCA1 | c.5475G= (p.Gln1825=) c.5478G= (p.Gln1826=) c.5352G= (p.Gln1784=) c.5472G= (p.Gln1824=) c.5400G= (p.Gln1800=) c.2166G= (p.Gln722=) c.2028G= (p.Gln676=) c.4590G= (p.Gln1530=) c.5355G= (p.Gln1785=) c.5544G= (p.Gln1848=) c.5337G= (p.Gln1779=) c.2040G= (p.Gln680=) n.1361G= n.842G= c.5541G= (p.Gln1847=) c.1865G= c.2052G= (p.Gln684=) c.*5261G= (n.*5261G=) c.2092G= (p.Asp698=) c.408G= (p.Gln136=) c.951G= (p.Gln317=) c.177G= (p.Gln59=) n.5614G= n.5655G= | |
17 | g.43045792C>G | CA10590368 | BRCA1 | c.5475G>C (p.Gln1825His) c.5478G>C (p.Gln1826His) c.5352G>C (p.Gln1784His) c.5472G>C (p.Gln1824His) c.5400G>C (p.Gln1800His) c.2166G>C (p.Gln722His) c.2028G>C (p.Gln676His) c.4590G>C (p.Gln1530His) c.5355G>C (p.Gln1785His) c.5544G>C (p.Gln1848His) c.5337G>C (p.Gln1779His) c.2040G>C (p.Gln680His) n.1361G>C n.842G>C c.5541G>C (p.Gln1847His) c.1865G>C c.2052G>C (p.Gln684His) c.*5261G>C (n.*5261G>C) c.2092G>C (p.Asp698His) c.408G>C (p.Gln136His) c.951G>C (p.Gln317His) c.177G>C (p.Gln59His) n.5614G>C n.5655G>C | ClinVar dbSNP |
17 | g.43045792C>T | CA10590370 | BRCA1 | c.5475G>A (p.Gln1825=) c.5478G>A (p.Gln1826=) c.5352G>A (p.Gln1784=) c.5472G>A (p.Gln1824=) c.5400G>A (p.Gln1800=) c.2166G>A (p.Gln722=) c.2028G>A (p.Gln676=) c.4590G>A (p.Gln1530=) c.5355G>A (p.Gln1785=) c.5544G>A (p.Gln1848=) c.5337G>A (p.Gln1779=) c.2040G>A (p.Gln680=) n.1361G>A n.842G>A c.5541G>A (p.Gln1847=) c.1865G>A c.2052G>A (p.Gln684=) c.*5261G>A (n.*5261G>A) c.2092G>A (p.Asp698Asn) c.408G>A (p.Gln136=) c.951G>A (p.Gln317=) c.177G>A (p.Gln59=) n.5614G>A n.5655G>A | ClinVar dbSNP |
17 | g.43045792_43045799del | CA2581463412 | BRCA1 | c.5468_5475del (p.Ile1823AsnfsTer3) c.5471_5478del (p.Ile1824AsnfsTer3) c.5345_5352del (p.Ile1782AsnfsTer3) c.5465_5472del (p.Ile1822AsnfsTer3) c.5393_5400del (p.Ile1798AsnfsTer3) c.2159_2166del (p.Ile720AsnfsTer3) c.2021_2028del (p.Ile674AsnfsTer3) c.4583_4590del (p.Ile1528AsnfsTer3) c.5348_5355del (p.Ile1783AsnfsTer3) c.5537_5544del (p.Ile1846AsnfsTer3) c.5330_5337del (p.Ile1777AsnfsTer3) c.2033_2040del (p.Ile678AsnfsTer3) n.1354_1361del n.835_842del c.5534_5541del (p.Ile1845AsnfsTer3) c.1858_1865del c.2045_2052del (p.Ile682AsnfsTer3) c.*5254_*5261del (n.*5254_*5261del) c.2085_2092del (p.Asn695LysfsTer8) c.401_408del (p.Ile134AsnfsTer3) c.944_951del (p.Ile315AsnfsTer3) c.170_177del (p.Ile57AsnfsTer3) n.5607_5614del n.5648_5655del | |
17 | g.43045792_43045800delinsCTGCCCAAT | CA2260761152 | BRCA1 | c.5467_5475delinsATTGGGCAG (p.Ile1823=) c.5470_5478delinsATTGGGCAG (p.Ile1824=) c.5344_5352delinsATTGGGCAG (p.Ile1782=) c.5464_5472delinsATTGGGCAG (p.Ile1822=) c.5392_5400delinsATTGGGCAG (p.Ile1798=) c.2158_2166delinsATTGGGCAG (p.Ile720=) c.2020_2028delinsATTGGGCAG (p.Ile674=) c.4582_4590delinsATTGGGCAG (p.Ile1528=) c.5347_5355delinsATTGGGCAG (p.Ile1783=) c.5536_5544delinsATTGGGCAG (p.Ile1846=) c.5329_5337delinsATTGGGCAG (p.Ile1777=) c.2032_2040delinsATTGGGCAG (p.Ile678=) n.1353_1361delinsATTGGGCAG n.834_842delinsATTGGGCAG c.5533_5541delinsATTGGGCAG (p.Ile1845=) c.1857_1865delinsATTGGGCAG c.2044_2052delinsATTGGGCAG (p.Ile682=) c.*5253_*5261delinsATTGGGCAG (n.*5253_*5261delinsATTGGGCAG) c.2084_2092delinsATTGGGCAG (p.Asn695=) c.400_408delinsATTGGGCAG (p.Ile134=) c.943_951delinsATTGGGCAG (p.Ile315=) c.169_177delinsATTGGGCAG (p.Ile57=) n.5606_5614delinsATTGGGCAG n.5647_5655delinsATTGGGCAG | |
17 | g.43045793T>A | CA003640 | BRCA1 | c.5474A>T (p.Gln1825Leu) c.5477A>T (p.Gln1826Leu) c.5351A>T (p.Gln1784Leu) c.5471A>T (p.Gln1824Leu) c.5399A>T (p.Gln1800Leu) c.2165A>T (p.Gln722Leu) c.2027A>T (p.Gln676Leu) c.4589A>T (p.Gln1530Leu) c.5354A>T (p.Gln1785Leu) c.5543A>T (p.Gln1848Leu) c.5336A>T (p.Gln1779Leu) c.2039A>T (p.Gln680Leu) n.1360A>T n.841A>T c.5540A>T (p.Gln1847Leu) c.1864A>T c.2051A>T (p.Gln684Leu) c.*5260A>T (n.*5260A>T) c.2091A>T (p.Ala697=) c.407A>T (p.Gln136Leu) c.950A>T (p.Gln317Leu) c.176A>T (p.Gln59Leu) n.5613A>T n.5654A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43045793T>C | CA10590371 | BRCA1 | c.5474A>G (p.Gln1825Arg) c.5477A>G (p.Gln1826Arg) c.5351A>G (p.Gln1784Arg) c.5471A>G (p.Gln1824Arg) c.5399A>G (p.Gln1800Arg) c.2165A>G (p.Gln722Arg) c.2027A>G (p.Gln676Arg) c.4589A>G (p.Gln1530Arg) c.5354A>G (p.Gln1785Arg) c.5543A>G (p.Gln1848Arg) c.5336A>G (p.Gln1779Arg) c.2039A>G (p.Gln680Arg) n.1360A>G n.841A>G c.5540A>G (p.Gln1847Arg) c.1864A>G c.2051A>G (p.Gln684Arg) c.*5260A>G (n.*5260A>G) c.2091A>G (p.Ala697=) c.407A>G (p.Gln136Arg) c.950A>G (p.Gln317Arg) c.176A>G (p.Gln59Arg) n.5613A>G n.5654A>G | ClinVar dbSNP |
17 | g.43045793T>G | CA10590372 | BRCA1 | c.5474A>C (p.Gln1825Pro) c.5477A>C (p.Gln1826Pro) c.5351A>C (p.Gln1784Pro) c.5471A>C (p.Gln1824Pro) c.5399A>C (p.Gln1800Pro) c.2165A>C (p.Gln722Pro) c.2027A>C (p.Gln676Pro) c.4589A>C (p.Gln1530Pro) c.5354A>C (p.Gln1785Pro) c.5543A>C (p.Gln1848Pro) c.5336A>C (p.Gln1779Pro) c.2039A>C (p.Gln680Pro) n.1360A>C n.841A>C c.5540A>C (p.Gln1847Pro) c.1864A>C c.2051A>C (p.Gln684Pro) c.*5260A>C (n.*5260A>C) c.2091A>C (p.Ala697=) c.407A>C (p.Gln136Pro) c.950A>C (p.Gln317Pro) c.176A>C (p.Gln59Pro) n.5613A>C n.5654A>C | ClinVar dbSNP |
17 | g.43045793T= | CA2260761153 | BRCA1 | c.5474A= (p.Gln1825=) c.5477A= (p.Gln1826=) c.5351A= (p.Gln1784=) c.5471A= (p.Gln1824=) c.5399A= (p.Gln1800=) c.2165A= (p.Gln722=) c.2027A= (p.Gln676=) c.4589A= (p.Gln1530=) c.5354A= (p.Gln1785=) c.5543A= (p.Gln1848=) c.5336A= (p.Gln1779=) c.2039A= (p.Gln680=) n.1360A= n.841A= c.5540A= (p.Gln1847=) c.1864A= c.2051A= (p.Gln684=) c.*5260A= (n.*5260A=) c.2091A= (p.Ala697=) c.407A= (p.Gln136=) c.950A= (p.Gln317=) c.176A= (p.Gln59=) n.5613A= n.5654A= | |
17 | g.43045796_43045803dup | CA919844142 | BRCA1 | c.5467_5474dup c.5470_5477dup c.5344_5351dup c.5464_5471dup c.5392_5399dup c.2158_2165dup c.2020_2027dup c.4582_4589dup c.5347_5354dup c.5536_5543dup c.5329_5336dup c.2032_2039dup n.1353_1360dup n.834_841dup c.5533_5540dup c.1857_1864dup c.2044_2051dup c.*5253_*5260dup c.2084_2091dup c.400_407dup c.943_950dup c.169_176dup n.5606_5613dup n.5647_5654dup | dbSNP |
17 | g.43045796_43045803del | CA003628 | BRCA1 | c.5467_5474del c.5470_5477del c.5344_5351del c.5464_5471del c.5392_5399del c.2158_2165del c.2020_2027del c.4582_4589del c.5347_5354del c.5536_5543del c.5329_5336del c.2032_2039del n.1353_1360del n.834_841del c.5533_5540del c.1857_1864del c.2044_2051del c.*5253_*5260del c.2084_2091del c.400_407del c.943_950del c.169_176del n.5606_5613del n.5647_5654del | ClinVar dbSNP |
17 | g.43045794del | CA2573054433 | BRCA1 | c.5473del (p.Gln1825ArgfsTer8) c.5476del (p.Gln1826ArgfsTer8) c.5350del (p.Gln1784ArgfsTer8) c.5470del (p.Gln1824ArgfsTer8) c.5398del (p.Gln1800ArgfsTer8) c.2164del (p.Gln722ArgfsTer8) c.2026del (p.Gln676ArgfsTer8) c.4588del (p.Gln1530ArgfsTer8) c.5353del (p.Gln1785ArgfsTer8) c.5542del (p.Gln1848ArgfsTer8) c.5335del (p.Gln1779ArgfsTer8) c.2038del (p.Gln680ArgfsTer8) n.1359del n.840del c.5539del (p.Gln1847ArgfsTer8) c.1863del c.2050del (p.Gln684ArgfsTer8) c.*5259del (n.*5259del) c.2090del (p.Ala697GlufsTer?) c.406del (p.Gln136ArgfsTer8) c.949del (p.Gln317ArgfsTer8) c.175del (p.Gln59ArgfsTer8) n.5612del n.5653del | ClinVar dbSNP |
17 | g.43045794G>A | CA10590373 | BRCA1 | c.5473C>T (p.Gln1825Ter) c.5476C>T (p.Gln1826Ter) c.5350C>T (p.Gln1784Ter) c.5470C>T (p.Gln1824Ter) c.5398C>T (p.Gln1800Ter) c.2164C>T (p.Gln722Ter) c.2026C>T (p.Gln676Ter) c.4588C>T (p.Gln1530Ter) c.5353C>T (p.Gln1785Ter) c.5542C>T (p.Gln1848Ter) c.5335C>T (p.Gln1779Ter) c.2038C>T (p.Gln680Ter) n.1359C>T n.840C>T c.5539C>T (p.Gln1847Ter) c.1863C>T c.2050C>T (p.Gln684Ter) c.*5259C>T (n.*5259C>T) c.2090C>T (p.Ala697Val) c.406C>T (p.Gln136Ter) c.949C>T (p.Gln317Ter) c.175C>T (p.Gln59Ter) n.5612C>T n.5653C>T | ClinVar dbSNP |
17 | g.43045794G>C | CA10590375 | BRCA1 | c.5473C>G (p.Gln1825Glu) c.5476C>G (p.Gln1826Glu) c.5350C>G (p.Gln1784Glu) c.5470C>G (p.Gln1824Glu) c.5398C>G (p.Gln1800Glu) c.2164C>G (p.Gln722Glu) c.2026C>G (p.Gln676Glu) c.4588C>G (p.Gln1530Glu) c.5353C>G (p.Gln1785Glu) c.5542C>G (p.Gln1848Glu) c.5335C>G (p.Gln1779Glu) c.2038C>G (p.Gln680Glu) n.1359C>G n.840C>G c.5539C>G (p.Gln1847Glu) c.1863C>G c.2050C>G (p.Gln684Glu) c.*5259C>G (n.*5259C>G) c.2090C>G (p.Ala697Gly) c.406C>G (p.Gln136Glu) c.949C>G (p.Gln317Glu) c.175C>G (p.Gln59Glu) n.5612C>G n.5653C>G | ClinVar dbSNP |
17 | g.43045794G= | CA2260761154 | BRCA1 | c.5473C= (p.Gln1825=) c.5476C= (p.Gln1826=) c.5350C= (p.Gln1784=) c.5470C= (p.Gln1824=) c.5398C= (p.Gln1800=) c.2164C= (p.Gln722=) c.2026C= (p.Gln676=) c.4588C= (p.Gln1530=) c.5353C= (p.Gln1785=) c.5542C= (p.Gln1848=) c.5335C= (p.Gln1779=) c.2038C= (p.Gln680=) n.1359C= n.840C= c.5539C= (p.Gln1847=) c.1863C= c.2050C= (p.Gln684=) c.*5259C= (n.*5259C=) c.2090C= (p.Ala697=) c.406C= (p.Gln136=) c.949C= (p.Gln317=) c.175C= (p.Gln59=) n.5612C= n.5653C= | |
17 | g.43045794G>T | CA003639 | BRCA1 | c.5473C>A (p.Gln1825Lys) c.5476C>A (p.Gln1826Lys) c.5350C>A (p.Gln1784Lys) c.5470C>A (p.Gln1824Lys) c.5398C>A (p.Gln1800Lys) c.2164C>A (p.Gln722Lys) c.2026C>A (p.Gln676Lys) c.4588C>A (p.Gln1530Lys) c.5353C>A (p.Gln1785Lys) c.5542C>A (p.Gln1848Lys) c.5335C>A (p.Gln1779Lys) c.2038C>A (p.Gln680Lys) n.1359C>A n.840C>A c.5539C>A (p.Gln1847Lys) c.1863C>A c.2050C>A (p.Gln684Lys) c.*5259C>A (n.*5259C>A) c.2090C>A (p.Ala697Glu) c.406C>A (p.Gln136Lys) c.949C>A (p.Gln317Lys) c.175C>A (p.Gln59Lys) n.5612C>A n.5653C>A | ClinVar dbSNP |
17 | g.43045795C>A | CA10590377 | BRCA1 | c.5472G>T (p.Gly1824=) c.5475G>T (p.Gly1825=) c.5349G>T (p.Gly1783=) c.5469G>T (p.Gly1823=) c.5397G>T (p.Gly1799=) c.2163G>T (p.Gly721=) c.2025G>T (p.Gly675=) c.4587G>T (p.Gly1529=) c.5352G>T (p.Gly1784=) c.5541G>T (p.Gly1847=) c.5334G>T (p.Gly1778=) c.2037G>T (p.Gly679=) n.1358G>T n.839G>T c.5538G>T (p.Gly1846=) c.1862G>T c.2049G>T (p.Gly683=) c.*5258G>T (n.*5258G>T) c.2089G>T (p.Ala697Ser) c.405G>T (p.Gly135=) c.948G>T (p.Gly316=) c.174G>T (p.Gly58=) n.5611G>T n.5652G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43045795C= | CA2260761155 | BRCA1 | c.5472G= (p.Gly1824=) c.5475G= (p.Gly1825=) c.5349G= (p.Gly1783=) c.5469G= (p.Gly1823=) c.5397G= (p.Gly1799=) c.2163G= (p.Gly721=) c.2025G= (p.Gly675=) c.4587G= (p.Gly1529=) c.5352G= (p.Gly1784=) c.5541G= (p.Gly1847=) c.5334G= (p.Gly1778=) c.2037G= (p.Gly679=) n.1358G= n.839G= c.5538G= (p.Gly1846=) c.1862G= c.2049G= (p.Gly683=) c.*5258G= (n.*5258G=) c.2089G= (p.Ala697=) c.405G= (p.Gly135=) c.948G= (p.Gly316=) c.174G= (p.Gly58=) n.5611G= n.5652G= | |
17 | g.43045795C>G | CA10590378 | BRCA1 | c.5472G>C (p.Gly1824=) c.5475G>C (p.Gly1825=) c.5349G>C (p.Gly1783=) c.5469G>C (p.Gly1823=) c.5397G>C (p.Gly1799=) c.2163G>C (p.Gly721=) c.2025G>C (p.Gly675=) c.4587G>C (p.Gly1529=) c.5352G>C (p.Gly1784=) c.5541G>C (p.Gly1847=) c.5334G>C (p.Gly1778=) c.2037G>C (p.Gly679=) n.1358G>C n.839G>C c.5538G>C (p.Gly1846=) c.1862G>C c.2049G>C (p.Gly683=) c.*5258G>C (n.*5258G>C) c.2089G>C (p.Ala697Pro) c.405G>C (p.Gly135=) c.948G>C (p.Gly316=) c.174G>C (p.Gly58=) n.5611G>C n.5652G>C | ClinVar dbSNP |
17 | g.43045795C>T | CA10590379 | BRCA1 | c.5472G>A (p.Gly1824=) c.5475G>A (p.Gly1825=) c.5349G>A (p.Gly1783=) c.5469G>A (p.Gly1823=) c.5397G>A (p.Gly1799=) c.2163G>A (p.Gly721=) c.2025G>A (p.Gly675=) c.4587G>A (p.Gly1529=) c.5352G>A (p.Gly1784=) c.5541G>A (p.Gly1847=) c.5334G>A (p.Gly1778=) c.2037G>A (p.Gly679=) n.1358G>A n.839G>A c.5538G>A (p.Gly1846=) c.1862G>A c.2049G>A (p.Gly683=) c.*5258G>A (n.*5258G>A) c.2089G>A (p.Ala697Thr) c.405G>A (p.Gly135=) c.948G>A (p.Gly316=) c.174G>A (p.Gly58=) n.5611G>A n.5652G>A | ClinVar dbSNP |
17 | g.43045796C>A | CA10590380 | BRCA1 | c.5471G>T (p.Gly1824Val) c.5474G>T (p.Gly1825Val) c.5348G>T (p.Gly1783Val) c.5468G>T (p.Gly1823Val) c.5396G>T (p.Gly1799Val) c.2162G>T (p.Gly721Val) c.2024G>T (p.Gly675Val) c.4586G>T (p.Gly1529Val) c.5351G>T (p.Gly1784Val) c.5540G>T (p.Gly1847Val) c.5333G>T (p.Gly1778Val) c.2036G>T (p.Gly679Val) n.1357G>T n.838G>T c.5537G>T (p.Gly1846Val) c.1861G>T c.2048G>T (p.Gly683Val) c.*5257G>T (n.*5257G>T) c.2088G>T (p.Trp696Cys) c.404G>T (p.Gly135Val) c.947G>T (p.Gly316Val) c.173G>T (p.Gly58Val) n.5610G>T n.5651G>T | ClinVar dbSNP |
17 | g.43045796C= | CA2260761156 | BRCA1 | c.5471G= (p.Gly1824=) c.5474G= (p.Gly1825=) c.5348G= (p.Gly1783=) c.5468G= (p.Gly1823=) c.5396G= (p.Gly1799=) c.2162G= (p.Gly721=) c.2024G= (p.Gly675=) c.4586G= (p.Gly1529=) c.5351G= (p.Gly1784=) c.5540G= (p.Gly1847=) c.5333G= (p.Gly1778=) c.2036G= (p.Gly679=) n.1357G= n.838G= c.5537G= (p.Gly1846=) c.1861G= c.2048G= (p.Gly683=) c.*5257G= (n.*5257G=) c.2088G= (p.Trp696=) c.404G= (p.Gly135=) c.947G= (p.Gly316=) c.173G= (p.Gly58=) n.5610G= n.5651G= | |
17 | g.43045796C>G | CA10590382 | BRCA1 | c.5471G>C (p.Gly1824Ala) c.5474G>C (p.Gly1825Ala) c.5348G>C (p.Gly1783Ala) c.5468G>C (p.Gly1823Ala) c.5396G>C (p.Gly1799Ala) c.2162G>C (p.Gly721Ala) c.2024G>C (p.Gly675Ala) c.4586G>C (p.Gly1529Ala) c.5351G>C (p.Gly1784Ala) c.5540G>C (p.Gly1847Ala) c.5333G>C (p.Gly1778Ala) c.2036G>C (p.Gly679Ala) n.1357G>C n.838G>C c.5537G>C (p.Gly1846Ala) c.1861G>C c.2048G>C (p.Gly683Ala) c.*5257G>C (n.*5257G>C) c.2088G>C (p.Trp696Cys) c.404G>C (p.Gly135Ala) c.947G>C (p.Gly316Ala) c.173G>C (p.Gly58Ala) n.5610G>C n.5651G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43045796C>T | CA10590384 | BRCA1 | c.5471G>A (p.Gly1824Glu) c.5474G>A (p.Gly1825Glu) c.5348G>A (p.Gly1783Glu) c.5468G>A (p.Gly1823Glu) c.5396G>A (p.Gly1799Glu) c.2162G>A (p.Gly721Glu) c.2024G>A (p.Gly675Glu) c.4586G>A (p.Gly1529Glu) c.5351G>A (p.Gly1784Glu) c.5540G>A (p.Gly1847Glu) c.5333G>A (p.Gly1778Glu) c.2036G>A (p.Gly679Glu) n.1357G>A n.838G>A c.5537G>A (p.Gly1846Glu) c.1861G>A c.2048G>A (p.Gly683Glu) c.*5257G>A (n.*5257G>A) c.2088G>A (p.Trp696Ter) c.404G>A (p.Gly135Glu) c.947G>A (p.Gly316Glu) c.173G>A (p.Gly58Glu) n.5610G>A n.5651G>A | ClinVar dbSNP |
17 | g.43045797C>A | CA10590386 | BRCA1 | c.5470G>T (p.Gly1824Trp) c.5473G>T (p.Gly1825Trp) c.5347G>T (p.Gly1783Trp) c.5467G>T (p.Gly1823Trp) c.5395G>T (p.Gly1799Trp) c.2161G>T (p.Gly721Trp) c.2023G>T (p.Gly675Trp) c.4585G>T (p.Gly1529Trp) c.5350G>T (p.Gly1784Trp) c.5539G>T (p.Gly1847Trp) c.5332G>T (p.Gly1778Trp) c.2035G>T (p.Gly679Trp) n.1356G>T n.837G>T c.5536G>T (p.Gly1846Trp) c.1860G>T c.2047G>T (p.Gly683Trp) c.*5256G>T (n.*5256G>T) c.2087G>T (p.Trp696Leu) c.403G>T (p.Gly135Trp) c.946G>T (p.Gly316Trp) c.172G>T (p.Gly58Trp) n.5609G>T n.5650G>T | ClinVar dbSNP |
17 | g.43045797C= | CA2260761157 | BRCA1 | c.5470G= (p.Gly1824=) c.5473G= (p.Gly1825=) c.5347G= (p.Gly1783=) c.5467G= (p.Gly1823=) c.5395G= (p.Gly1799=) c.2161G= (p.Gly721=) c.2023G= (p.Gly675=) c.4585G= (p.Gly1529=) c.5350G= (p.Gly1784=) c.5539G= (p.Gly1847=) c.5332G= (p.Gly1778=) c.2035G= (p.Gly679=) n.1356G= n.837G= c.5536G= (p.Gly1846=) c.1860G= c.2047G= (p.Gly683=) c.*5256G= (n.*5256G=) c.2087G= (p.Trp696=) c.403G= (p.Gly135=) c.946G= (p.Gly316=) c.172G= (p.Gly58=) n.5609G= n.5650G= | |
17 | g.43045797C>G | CA10590388 | BRCA1 | c.5470G>C (p.Gly1824Arg) c.5473G>C (p.Gly1825Arg) c.5347G>C (p.Gly1783Arg) c.5467G>C (p.Gly1823Arg) c.5395G>C (p.Gly1799Arg) c.2161G>C (p.Gly721Arg) c.2023G>C (p.Gly675Arg) c.4585G>C (p.Gly1529Arg) c.5350G>C (p.Gly1784Arg) c.5539G>C (p.Gly1847Arg) c.5332G>C (p.Gly1778Arg) c.2035G>C (p.Gly679Arg) n.1356G>C n.837G>C c.5536G>C (p.Gly1846Arg) c.1860G>C c.2047G>C (p.Gly683Arg) c.*5256G>C (n.*5256G>C) c.2087G>C (p.Trp696Ser) c.403G>C (p.Gly135Arg) c.946G>C (p.Gly316Arg) c.172G>C (p.Gly58Arg) n.5609G>C n.5650G>C | ClinVar dbSNP |
17 | g.43045797C>T | CA003637 | BRCA1 | c.5470G>A (p.Gly1824Arg) c.5473G>A (p.Gly1825Arg) c.5347G>A (p.Gly1783Arg) c.5467G>A (p.Gly1823Arg) c.5395G>A (p.Gly1799Arg) c.2161G>A (p.Gly721Arg) c.2023G>A (p.Gly675Arg) c.4585G>A (p.Gly1529Arg) c.5350G>A (p.Gly1784Arg) c.5539G>A (p.Gly1847Arg) c.5332G>A (p.Gly1778Arg) c.2035G>A (p.Gly679Arg) n.1356G>A n.837G>A c.5536G>A (p.Gly1846Arg) c.1860G>A c.2047G>A (p.Gly683Arg) c.*5256G>A (n.*5256G>A) c.2087G>A (p.Trp696Ter) c.403G>A (p.Gly135Arg) c.946G>A (p.Gly316Arg) c.172G>A (p.Gly58Arg) n.5609G>A n.5650G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43045798A= | CA2260761158 | BRCA1 | c.5469T= (p.Ile1823=) c.5472T= (p.Ile1824=) c.5346T= (p.Ile1782=) c.5466T= (p.Ile1822=) c.5394T= (p.Ile1798=) c.2160T= (p.Ile720=) c.2022T= (p.Ile674=) c.4584T= (p.Ile1528=) c.5349T= (p.Ile1783=) c.5538T= (p.Ile1846=) c.5331T= (p.Ile1777=) c.2034T= (p.Ile678=) n.1355T= n.836T= c.5535T= (p.Ile1845=) c.1859T= c.2046T= (p.Ile682=) c.*5255T= (n.*5255T=) c.2086T= (p.Trp696=) c.402T= (p.Ile134=) c.945T= (p.Ile315=) c.171T= (p.Ile57=) n.5608T= n.5649T= | |
17 | g.43045798A>C | CA10590390 | BRCA1 | c.5469T>G (p.Ile1823Met) c.5472T>G (p.Ile1824Met) c.5346T>G (p.Ile1782Met) c.5466T>G (p.Ile1822Met) c.5394T>G (p.Ile1798Met) c.2160T>G (p.Ile720Met) c.2022T>G (p.Ile674Met) c.4584T>G (p.Ile1528Met) c.5349T>G (p.Ile1783Met) c.5538T>G (p.Ile1846Met) c.5331T>G (p.Ile1777Met) c.2034T>G (p.Ile678Met) n.1355T>G n.836T>G c.5535T>G (p.Ile1845Met) c.1859T>G c.2046T>G (p.Ile682Met) c.*5255T>G (n.*5255T>G) c.2086T>G (p.Trp696Gly) c.402T>G (p.Ile134Met) c.945T>G (p.Ile315Met) c.171T>G (p.Ile57Met) n.5608T>G n.5649T>G | ClinVar dbSNP |
17 | g.43045798A>G | CA10590392 | BRCA1 | c.5469T>C (p.Ile1823=) c.5472T>C (p.Ile1824=) c.5346T>C (p.Ile1782=) c.5466T>C (p.Ile1822=) c.5394T>C (p.Ile1798=) c.2160T>C (p.Ile720=) c.2022T>C (p.Ile674=) c.4584T>C (p.Ile1528=) c.5349T>C (p.Ile1783=) c.5538T>C (p.Ile1846=) c.5331T>C (p.Ile1777=) c.2034T>C (p.Ile678=) n.1355T>C n.836T>C c.5535T>C (p.Ile1845=) c.1859T>C c.2046T>C (p.Ile682=) c.*5255T>C (n.*5255T>C) c.2086T>C (p.Trp696Arg) c.402T>C (p.Ile134=) c.945T>C (p.Ile315=) c.171T>C (p.Ile57=) n.5608T>C n.5649T>C | ClinVar dbSNP |
17 | g.43045798A>T | CA10590393 | BRCA1 | c.5469T>A (p.Ile1823=) c.5472T>A (p.Ile1824=) c.5346T>A (p.Ile1782=) c.5466T>A (p.Ile1822=) c.5394T>A (p.Ile1798=) c.2160T>A (p.Ile720=) c.2022T>A (p.Ile674=) c.4584T>A (p.Ile1528=) c.5349T>A (p.Ile1783=) c.5538T>A (p.Ile1846=) c.5331T>A (p.Ile1777=) c.2034T>A (p.Ile678=) n.1355T>A n.836T>A c.5535T>A (p.Ile1845=) c.1859T>A c.2046T>A (p.Ile682=) c.*5255T>A (n.*5255T>A) c.2086T>A (p.Trp696Arg) c.402T>A (p.Ile134=) c.945T>A (p.Ile315=) c.171T>A (p.Ile57=) n.5608T>A n.5649T>A | ClinVar dbSNP |
17 | g.43045799A= | CA2260761159 | BRCA1 | c.5468T= (p.Ile1823=) c.5471T= (p.Ile1824=) c.5345T= (p.Ile1782=) c.5465T= (p.Ile1822=) c.5393T= (p.Ile1798=) c.2159T= (p.Ile720=) c.2021T= (p.Ile674=) c.4583T= (p.Ile1528=) c.5348T= (p.Ile1783=) c.5537T= (p.Ile1846=) c.5330T= (p.Ile1777=) c.2033T= (p.Ile678=) n.1354T= n.835T= c.5534T= (p.Ile1845=) c.1858T= c.2045T= (p.Ile682=) c.*5254T= (n.*5254T=) c.2085T= (p.Asn695=) c.401T= (p.Ile134=) c.944T= (p.Ile315=) c.170T= (p.Ile57=) n.5607T= n.5648T= | |
17 | g.43045799A>C | CA10590394 | BRCA1 | c.5468T>G (p.Ile1823Ser) c.5471T>G (p.Ile1824Ser) c.5345T>G (p.Ile1782Ser) c.5465T>G (p.Ile1822Ser) c.5393T>G (p.Ile1798Ser) c.2159T>G (p.Ile720Ser) c.2021T>G (p.Ile674Ser) c.4583T>G (p.Ile1528Ser) c.5348T>G (p.Ile1783Ser) c.5537T>G (p.Ile1846Ser) c.5330T>G (p.Ile1777Ser) c.2033T>G (p.Ile678Ser) n.1354T>G n.835T>G c.5534T>G (p.Ile1845Ser) c.1858T>G c.2045T>G (p.Ile682Ser) c.*5254T>G (n.*5254T>G) c.2085T>G (p.Asn695Lys) c.401T>G (p.Ile134Ser) c.944T>G (p.Ile315Ser) c.170T>G (p.Ile57Ser) n.5607T>G n.5648T>G | ClinVar dbSNP |
17 | g.43045799A>G | CA10590396 | BRCA1 | c.5468T>C (p.Ile1823Thr) c.5471T>C (p.Ile1824Thr) c.5345T>C (p.Ile1782Thr) c.5465T>C (p.Ile1822Thr) c.5393T>C (p.Ile1798Thr) c.2159T>C (p.Ile720Thr) c.2021T>C (p.Ile674Thr) c.4583T>C (p.Ile1528Thr) c.5348T>C (p.Ile1783Thr) c.5537T>C (p.Ile1846Thr) c.5330T>C (p.Ile1777Thr) c.2033T>C (p.Ile678Thr) n.1354T>C n.835T>C c.5534T>C (p.Ile1845Thr) c.1858T>C c.2045T>C (p.Ile682Thr) c.*5254T>C (n.*5254T>C) c.2085T>C (p.Asn695=) c.401T>C (p.Ile134Thr) c.944T>C (p.Ile315Thr) c.170T>C (p.Ile57Thr) n.5607T>C n.5648T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43045799A>T | CA10590397 | BRCA1 | c.5468T>A (p.Ile1823Asn) c.5471T>A (p.Ile1824Asn) c.5345T>A (p.Ile1782Asn) c.5465T>A (p.Ile1822Asn) c.5393T>A (p.Ile1798Asn) c.2159T>A (p.Ile720Asn) c.2021T>A (p.Ile674Asn) c.4583T>A (p.Ile1528Asn) c.5348T>A (p.Ile1783Asn) c.5537T>A (p.Ile1846Asn) c.5330T>A (p.Ile1777Asn) c.2033T>A (p.Ile678Asn) n.1354T>A n.835T>A c.5534T>A (p.Ile1845Asn) c.1858T>A c.2045T>A (p.Ile682Asn) c.*5254T>A (n.*5254T>A) c.2085T>A (p.Asn695Lys) c.401T>A (p.Ile134Asn) c.944T>A (p.Ile315Asn) c.170T>A (p.Ile57Asn) n.5607T>A n.5648T>A | ClinVar dbSNP |
17 | g.43045800T>A | CA10590399 | BRCA1 | c.5467A>T (p.Ile1823Phe) c.5470A>T (p.Ile1824Phe) c.5344A>T (p.Ile1782Phe) c.5464A>T (p.Ile1822Phe) c.5392A>T (p.Ile1798Phe) c.2158A>T (p.Ile720Phe) c.2020A>T (p.Ile674Phe) c.4582A>T (p.Ile1528Phe) c.5347A>T (p.Ile1783Phe) c.5536A>T (p.Ile1846Phe) c.5329A>T (p.Ile1777Phe) c.2032A>T (p.Ile678Phe) n.1353A>T n.834A>T c.5533A>T (p.Ile1845Phe) c.1857A>T c.2044A>T (p.Ile682Phe) c.*5253A>T (n.*5253A>T) c.2084A>T (p.Asn695Ile) c.400A>T (p.Ile134Phe) c.943A>T (p.Ile315Phe) c.169A>T (p.Ile57Phe) n.5606A>T n.5647A>T | ClinVar dbSNP |
17 | g.43045800T>C | CA003629 | BRCA1 | c.5467A>G (p.Ile1823Val) c.5470A>G (p.Ile1824Val) c.5344A>G (p.Ile1782Val) c.5464A>G (p.Ile1822Val) c.5392A>G (p.Ile1798Val) c.2158A>G (p.Ile720Val) c.2020A>G (p.Ile674Val) c.4582A>G (p.Ile1528Val) c.5347A>G (p.Ile1783Val) c.5536A>G (p.Ile1846Val) c.5329A>G (p.Ile1777Val) c.2032A>G (p.Ile678Val) n.1353A>G n.834A>G c.5533A>G (p.Ile1845Val) c.1857A>G c.2044A>G (p.Ile682Val) c.*5253A>G (n.*5253A>G) c.2084A>G (p.Asn695Ser) c.400A>G (p.Ile134Val) c.943A>G (p.Ile315Val) c.169A>G (p.Ile57Val) n.5606A>G n.5647A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43045800T>G | CA10590401 | BRCA1 | c.5467A>C (p.Ile1823Leu) c.5470A>C (p.Ile1824Leu) c.5344A>C (p.Ile1782Leu) c.5464A>C (p.Ile1822Leu) c.5392A>C (p.Ile1798Leu) c.2158A>C (p.Ile720Leu) c.2020A>C (p.Ile674Leu) c.4582A>C (p.Ile1528Leu) c.5347A>C (p.Ile1783Leu) c.5536A>C (p.Ile1846Leu) c.5329A>C (p.Ile1777Leu) c.2032A>C (p.Ile678Leu) n.1353A>C n.834A>C c.5533A>C (p.Ile1845Leu) c.1857A>C c.2044A>C (p.Ile682Leu) c.*5253A>C (n.*5253A>C) c.2084A>C (p.Asn695Thr) c.400A>C (p.Ile134Leu) c.943A>C (p.Ile315Leu) c.169A>C (p.Ile57Leu) n.5606A>C n.5647A>C | ClinVar dbSNP |
17 | g.43045800T= | CA2260761160 | BRCA1 | c.5467A= (p.Ile1823=) c.5470A= (p.Ile1824=) c.5344A= (p.Ile1782=) c.5464A= (p.Ile1822=) c.5392A= (p.Ile1798=) c.2158A= (p.Ile720=) c.2020A= (p.Ile674=) c.4582A= (p.Ile1528=) c.5347A= (p.Ile1783=) c.5536A= (p.Ile1846=) c.5329A= (p.Ile1777=) c.2032A= (p.Ile678=) n.1353A= n.834A= c.5533A= (p.Ile1845=) c.1857A= c.2044A= (p.Ile682=) c.*5253A= (n.*5253A=) c.2084A= (p.Asn695=) c.400A= (p.Ile134=) c.943A= (p.Ile315=) c.169A= (p.Ile57=) n.5606A= n.5647A= | |
17 | g.43045801T>A | CA10590403 | BRCA1 | c.5466A>T (p.Ala1822=) c.5469A>T (p.Ala1823=) c.5343A>T (p.Ala1781=) c.5463A>T (p.Ala1821=) c.5391A>T (p.Ala1797=) c.2157A>T (p.Ala719=) c.2019A>T (p.Ala673=) c.4581A>T (p.Ala1527=) c.5346A>T (p.Ala1782=) c.5535A>T (p.Ala1845=) c.5328A>T (p.Ala1776=) c.2031A>T (p.Ala677=) n.1352A>T n.833A>T c.5532A>T (p.Ala1844=) c.1856A>T c.2043A>T (p.Ala681=) c.*5252A>T (n.*5252A>T) c.2083A>T (p.Asn695Tyr) c.399A>T (p.Ala133=) c.942A>T (p.Ala314=) c.168A>T (p.Ala56=) n.5605A>T n.5646A>T | ClinVar dbSNP |
17 | g.43045801T>C | CA10590404 | BRCA1 | c.5466A>G (p.Ala1822=) c.5469A>G (p.Ala1823=) c.5343A>G (p.Ala1781=) c.5463A>G (p.Ala1821=) c.5391A>G (p.Ala1797=) c.2157A>G (p.Ala719=) c.2019A>G (p.Ala673=) c.4581A>G (p.Ala1527=) c.5346A>G (p.Ala1782=) c.5535A>G (p.Ala1845=) c.5328A>G (p.Ala1776=) c.2031A>G (p.Ala677=) n.1352A>G n.833A>G c.5532A>G (p.Ala1844=) c.1856A>G c.2043A>G (p.Ala681=) c.*5252A>G (n.*5252A>G) c.2083A>G (p.Asn695Asp) c.399A>G (p.Ala133=) c.942A>G (p.Ala314=) c.168A>G (p.Ala56=) n.5605A>G n.5646A>G | ClinVar dbSNP |
17 | g.43045801T>G | CA10590405 | BRCA1 | c.5466A>C (p.Ala1822=) c.5469A>C (p.Ala1823=) c.5343A>C (p.Ala1781=) c.5463A>C (p.Ala1821=) c.5391A>C (p.Ala1797=) c.2157A>C (p.Ala719=) c.2019A>C (p.Ala673=) c.4581A>C (p.Ala1527=) c.5346A>C (p.Ala1782=) c.5535A>C (p.Ala1845=) c.5328A>C (p.Ala1776=) c.2031A>C (p.Ala677=) n.1352A>C n.833A>C c.5532A>C (p.Ala1844=) c.1856A>C c.2043A>C (p.Ala681=) c.*5252A>C (n.*5252A>C) c.2083A>C (p.Asn695His) c.399A>C (p.Ala133=) c.942A>C (p.Ala314=) c.168A>C (p.Ala56=) n.5605A>C n.5646A>C | ClinVar dbSNP |
17 | g.43045801T= | CA2260761161 | BRCA1 | c.5466A= (p.Ala1822=) c.5469A= (p.Ala1823=) c.5343A= (p.Ala1781=) c.5463A= (p.Ala1821=) c.5391A= (p.Ala1797=) c.2157A= (p.Ala719=) c.2019A= (p.Ala673=) c.4581A= (p.Ala1527=) c.5346A= (p.Ala1782=) c.5535A= (p.Ala1845=) c.5328A= (p.Ala1776=) c.2031A= (p.Ala677=) n.1352A= n.833A= c.5532A= (p.Ala1844=) c.1856A= c.2043A= (p.Ala681=) c.*5252A= (n.*5252A=) c.2083A= (p.Asn695=) c.399A= (p.Ala133=) c.942A= (p.Ala314=) c.168A= (p.Ala56=) n.5605A= n.5646A= | |
17 | g.43045803_43045805del | CA2573154007 | BRCA1 | c.5465-1_5466del c.5468-1_5469del c.5342-1_5343del c.5462-1_5463del c.5390-1_5391del c.2156-1_2157del c.2018-1_2019del c.4580-1_4581del c.5345-1_5346del c.5534-1_5535del c.5327-1_5328del c.2030-1_2031del n.1351-1_1352del n.832-1_833del c.5531-1_5532del c.1855-1_1856del c.2042-1_2043del c.*5251-1_*5252del c.2082-1_2083del c.398-1_399del c.941-1_942del c.167-1_168del n.5604-1_5605del n.5645-1_5646del | ClinVar dbSNP |
17 | g.43045802G>A | CA055163 | BRCA1 | c.5465C>T (p.Ala1822Val) c.5468C>T (p.Ala1823Val) c.5342C>T (p.Ala1781Val) c.5462C>T (p.Ala1821Val) c.5390C>T (p.Ala1797Val) c.2156C>T (p.Ala719Val) c.2018C>T (p.Ala673Val) c.4580C>T (p.Ala1527Val) c.5345C>T (p.Ala1782Val) c.5534C>T (p.Ala1845Val) c.5327C>T (p.Ala1776Val) c.2030C>T (p.Ala677Val) n.1351C>T n.832C>T c.5531C>T (p.Ala1844Val) c.1855C>T c.2042C>T (p.Ala681Val) c.*5251C>T (n.*5251C>T) c.2082C>T (p.Cys694=) c.398C>T (p.Ala133Val) c.941C>T (p.Ala314Val) c.167C>T (p.Ala56Val) n.5604C>T n.5645C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045802G>C | CA10590406 | BRCA1 | c.5465C>G (p.Ala1822Gly) c.5468C>G (p.Ala1823Gly) c.5342C>G (p.Ala1781Gly) c.5462C>G (p.Ala1821Gly) c.5390C>G (p.Ala1797Gly) c.2156C>G (p.Ala719Gly) c.2018C>G (p.Ala673Gly) c.4580C>G (p.Ala1527Gly) c.5345C>G (p.Ala1782Gly) c.5534C>G (p.Ala1845Gly) c.5327C>G (p.Ala1776Gly) c.2030C>G (p.Ala677Gly) n.1351C>G n.832C>G c.5531C>G (p.Ala1844Gly) c.1855C>G c.2042C>G (p.Ala681Gly) c.*5251C>G (n.*5251C>G) c.2082C>G (p.Cys694Trp) c.398C>G (p.Ala133Gly) c.941C>G (p.Ala314Gly) c.167C>G (p.Ala56Gly) n.5604C>G n.5645C>G | ClinVar dbSNP |
17 | g.43045802G= | CA2260761163 | BRCA1 | c.5465C= (p.Ala1822=) c.5468C= (p.Ala1823=) c.5342C= (p.Ala1781=) c.5462C= (p.Ala1821=) c.5390C= (p.Ala1797=) c.2156C= (p.Ala719=) c.2018C= (p.Ala673=) c.4580C= (p.Ala1527=) c.5345C= (p.Ala1782=) c.5534C= (p.Ala1845=) c.5327C= (p.Ala1776=) c.2030C= (p.Ala677=) n.1351C= n.832C= c.5531C= (p.Ala1844=) c.1855C= c.2042C= (p.Ala681=) c.*5251C= (n.*5251C=) c.2082C= (p.Cys694=) c.398C= (p.Ala133=) c.941C= (p.Ala314=) c.167C= (p.Ala56=) n.5604C= n.5645C= | |
17 | g.43045802G>T | CA10590408 | BRCA1 | c.5465C>A (p.Ala1822Glu) c.5468C>A (p.Ala1823Glu) c.5342C>A (p.Ala1781Glu) c.5462C>A (p.Ala1821Glu) c.5390C>A (p.Ala1797Glu) c.2156C>A (p.Ala719Glu) c.2018C>A (p.Ala673Glu) c.4580C>A (p.Ala1527Glu) c.5345C>A (p.Ala1782Glu) c.5534C>A (p.Ala1845Glu) c.5327C>A (p.Ala1776Glu) c.2030C>A (p.Ala677Glu) n.1351C>A n.832C>A c.5531C>A (p.Ala1844Glu) c.1855C>A c.2042C>A (p.Ala681Glu) c.*5251C>A (n.*5251C>A) c.2082C>A (p.Cys694Ter) c.398C>A (p.Ala133Glu) c.941C>A (p.Ala314Glu) c.167C>A (p.Ala56Glu) n.5604C>A n.5645C>A | ClinVar dbSNP |
17 | g.43045802_43045803delinsAA | CA915950026 | BRCA1 | c.5465-1_5465delinsTT c.5468-1_5468delinsTT c.5342-1_5342delinsTT c.5462-1_5462delinsTT c.5390-1_5390delinsTT c.2156-1_2156delinsTT c.2018-1_2018delinsTT c.4580-1_4580delinsTT c.5345-1_5345delinsTT c.5534-1_5534delinsTT c.5327-1_5327delinsTT c.2030-1_2030delinsTT n.1351-1_1351delinsTT n.832-1_832delinsTT c.5531-1_5531delinsTT c.1855-1_1855delinsTT c.2042-1_2042delinsTT c.*5251-1_*5251delinsTT c.2082-1_2082delinsTT c.398-1_398delinsTT c.941-1_941delinsTT c.167-1_167delinsTT n.5604-1_5604delinsTT n.5645-1_5645delinsTT | ClinVar dbSNP |
17 | g.43045802_43045803delinsGC | CA2260761162 | BRCA1 | c.5465-1_5465delinsGC c.5468-1_5468delinsGC c.5342-1_5342delinsGC c.5462-1_5462delinsGC c.5390-1_5390delinsGC c.2156-1_2156delinsGC c.2018-1_2018delinsGC c.4580-1_4580delinsGC c.5345-1_5345delinsGC c.5534-1_5534delinsGC c.5327-1_5327delinsGC c.2030-1_2030delinsGC n.1351-1_1351delinsGC n.832-1_832delinsGC c.5531-1_5531delinsGC c.1855-1_1855delinsGC c.2042-1_2042delinsGC c.*5251-1_*5251delinsGC c.2082-1_2082delinsGC c.398-1_398delinsGC c.941-1_941delinsGC c.167-1_167delinsGC n.5604-1_5604delinsGC n.5645-1_5645delinsGC | |
17 | g.43045803C>A | CA055116 | BRCA1 | c.5465-1G>T (n.5465-1G>T) c.5468-1G>T (n.5468-1G>T) c.5342-1G>T (n.5342-1G>T) c.5462-1G>T (n.5462-1G>T) c.5390-1G>T (n.5390-1G>T) c.2156-1G>T (n.2156-1G>T) c.2018-1G>T (n.2018-1G>T) c.4580-1G>T (n.4580-1G>T) c.5345-1G>T (n.5345-1G>T) c.5534-1G>T (n.5534-1G>T) c.5327-1G>T (n.5327-1G>T) c.2030-1G>T (n.2030-1G>T) n.1351-1G>T n.832-1G>T c.5531-1G>T (n.5531-1G>T) c.1855-1G>T c.2042-1G>T (n.2042-1G>T) c.*5251-1G>T (n.*5251-1G>T) c.2082-1G>T (n.2082-1G>T) c.398-1G>T (n.398-1G>T) c.941-1G>T (n.941-1G>T) c.167-1G>T (n.167-1G>T) n.5604-1G>T n.5645-1G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045803C= | CA2260761164 | BRCA1 | c.5465-1G= (n.5465-1G=) c.5468-1G= (n.5468-1G=) c.5342-1G= (n.5342-1G=) c.5462-1G= (n.5462-1G=) c.5390-1G= (n.5390-1G=) c.2156-1G= (n.2156-1G=) c.2018-1G= (n.2018-1G=) c.4580-1G= (n.4580-1G=) c.5345-1G= (n.5345-1G=) c.5534-1G= (n.5534-1G=) c.5327-1G= (n.5327-1G=) c.2030-1G= (n.2030-1G=) n.1351-1G= n.832-1G= c.5531-1G= (n.5531-1G=) c.1855-1G= c.2042-1G= (n.2042-1G=) c.*5251-1G= (n.*5251-1G=) c.2082-1G= (n.2082-1G=) c.398-1G= (n.398-1G=) c.941-1G= (n.941-1G=) c.167-1G= (n.167-1G=) n.5604-1G= n.5645-1G= | |
17 | g.43045803C>G | CA10590410 | BRCA1 | c.5465-1G>C (n.5465-1G>C) c.5468-1G>C (n.5468-1G>C) c.5342-1G>C (n.5342-1G>C) c.5462-1G>C (n.5462-1G>C) c.5390-1G>C (n.5390-1G>C) c.2156-1G>C (n.2156-1G>C) c.2018-1G>C (n.2018-1G>C) c.4580-1G>C (n.4580-1G>C) c.5345-1G>C (n.5345-1G>C) c.5534-1G>C (n.5534-1G>C) c.5327-1G>C (n.5327-1G>C) c.2030-1G>C (n.2030-1G>C) n.1351-1G>C n.832-1G>C c.5531-1G>C (n.5531-1G>C) c.1855-1G>C c.2042-1G>C (n.2042-1G>C) c.*5251-1G>C (n.*5251-1G>C) c.2082-1G>C (n.2082-1G>C) c.398-1G>C (n.398-1G>C) c.941-1G>C (n.941-1G>C) c.167-1G>C (n.167-1G>C) n.5604-1G>C n.5645-1G>C | ClinVar dbSNP |
17 | g.43045803C>T | CA003623 | BRCA1 | c.5465-1G>A (n.5465-1G>A) c.5468-1G>A (n.5468-1G>A) c.5342-1G>A (n.5342-1G>A) c.5462-1G>A (n.5462-1G>A) c.5390-1G>A (n.5390-1G>A) c.2156-1G>A (n.2156-1G>A) c.2018-1G>A (n.2018-1G>A) c.4580-1G>A (n.4580-1G>A) c.5345-1G>A (n.5345-1G>A) c.5534-1G>A (n.5534-1G>A) c.5327-1G>A (n.5327-1G>A) c.2030-1G>A (n.2030-1G>A) n.1351-1G>A n.832-1G>A c.5531-1G>A (n.5531-1G>A) c.1855-1G>A c.2042-1G>A (n.2042-1G>A) c.*5251-1G>A (n.*5251-1G>A) c.2082-1G>A (n.2082-1G>A) c.398-1G>A (n.398-1G>A) c.941-1G>A (n.941-1G>A) c.167-1G>A (n.167-1G>A) n.5604-1G>A n.5645-1G>A | ClinVar dbSNP |
17 | g.43045804T>A | CA10590411 | BRCA1 | c.5465-2A>T (n.5465-2A>T) c.5468-2A>T (n.5468-2A>T) c.5342-2A>T (n.5342-2A>T) c.5462-2A>T (n.5462-2A>T) c.5390-2A>T (n.5390-2A>T) c.2156-2A>T (n.2156-2A>T) c.2018-2A>T (n.2018-2A>T) c.4580-2A>T (n.4580-2A>T) c.5345-2A>T (n.5345-2A>T) c.5534-2A>T (n.5534-2A>T) c.5327-2A>T (n.5327-2A>T) c.2030-2A>T (n.2030-2A>T) n.1351-2A>T n.832-2A>T c.5531-2A>T (n.5531-2A>T) c.1855-2A>T c.2042-2A>T (n.2042-2A>T) c.*5251-2A>T (n.*5251-2A>T) c.2082-2A>T (n.2082-2A>T) c.398-2A>T (n.398-2A>T) c.941-2A>T (n.941-2A>T) c.167-2A>T (n.167-2A>T) n.5604-2A>T n.5645-2A>T | ClinVar dbSNP |
17 | g.43045804T>C | CA003625 | BRCA1 | c.5465-2A>G (n.5465-2A>G) c.5468-2A>G (n.5468-2A>G) c.5342-2A>G (n.5342-2A>G) c.5462-2A>G (n.5462-2A>G) c.5390-2A>G (n.5390-2A>G) c.2156-2A>G (n.2156-2A>G) c.2018-2A>G (n.2018-2A>G) c.4580-2A>G (n.4580-2A>G) c.5345-2A>G (n.5345-2A>G) c.5534-2A>G (n.5534-2A>G) c.5327-2A>G (n.5327-2A>G) c.2030-2A>G (n.2030-2A>G) n.1351-2A>G n.832-2A>G c.5531-2A>G (n.5531-2A>G) c.1855-2A>G c.2042-2A>G (n.2042-2A>G) c.*5251-2A>G (n.*5251-2A>G) c.2082-2A>G (n.2082-2A>G) c.398-2A>G (n.398-2A>G) c.941-2A>G (n.941-2A>G) c.167-2A>G (n.167-2A>G) n.5604-2A>G n.5645-2A>G | ClinVar dbSNP |
17 | g.43045804T>G | CA10590412 | BRCA1 | c.5465-2A>C (n.5465-2A>C) c.5468-2A>C (n.5468-2A>C) c.5342-2A>C (n.5342-2A>C) c.5462-2A>C (n.5462-2A>C) c.5390-2A>C (n.5390-2A>C) c.2156-2A>C (n.2156-2A>C) c.2018-2A>C (n.2018-2A>C) c.4580-2A>C (n.4580-2A>C) c.5345-2A>C (n.5345-2A>C) c.5534-2A>C (n.5534-2A>C) c.5327-2A>C (n.5327-2A>C) c.2030-2A>C (n.2030-2A>C) n.1351-2A>C n.832-2A>C c.5531-2A>C (n.5531-2A>C) c.1855-2A>C c.2042-2A>C (n.2042-2A>C) c.*5251-2A>C (n.*5251-2A>C) c.2082-2A>C (n.2082-2A>C) c.398-2A>C (n.398-2A>C) c.941-2A>C (n.941-2A>C) c.167-2A>C (n.167-2A>C) n.5604-2A>C n.5645-2A>C | ClinVar dbSNP |
17 | g.43045804T= | CA2260761165 | BRCA1 | c.5465-2A= (n.5465-2A=) c.5468-2A= (n.5468-2A=) c.5342-2A= (n.5342-2A=) c.5462-2A= (n.5462-2A=) c.5390-2A= (n.5390-2A=) c.2156-2A= (n.2156-2A=) c.2018-2A= (n.2018-2A=) c.4580-2A= (n.4580-2A=) c.5345-2A= (n.5345-2A=) c.5534-2A= (n.5534-2A=) c.5327-2A= (n.5327-2A=) c.2030-2A= (n.2030-2A=) n.1351-2A= n.832-2A= c.5531-2A= (n.5531-2A=) c.1855-2A= c.2042-2A= (n.2042-2A=) c.*5251-2A= (n.*5251-2A=) c.2082-2A= (n.2082-2A=) c.398-2A= (n.398-2A=) c.941-2A= (n.941-2A=) c.167-2A= (n.167-2A=) n.5604-2A= n.5645-2A= | |
17 | g.43045805G>A | CA916080703 | BRCA1 | c.5465-3C>T (n.5465-3C>T) c.5468-3C>T (n.5468-3C>T) c.5342-3C>T (n.5342-3C>T) c.5462-3C>T (n.5462-3C>T) c.5390-3C>T (n.5390-3C>T) c.2156-3C>T (n.2156-3C>T) c.2018-3C>T (n.2018-3C>T) c.4580-3C>T (n.4580-3C>T) c.5345-3C>T (n.5345-3C>T) c.5534-3C>T (n.5534-3C>T) c.5327-3C>T (n.5327-3C>T) c.2030-3C>T (n.2030-3C>T) n.1351-3C>T n.832-3C>T c.5531-3C>T (n.5531-3C>T) c.1855-3C>T c.2042-3C>T (n.2042-3C>T) c.*5251-3C>T (n.*5251-3C>T) c.2082-3C>T (n.2082-3C>T) c.398-3C>T (n.398-3C>T) c.941-3C>T (n.941-3C>T) c.167-3C>T (n.167-3C>T) n.5604-3C>T n.5645-3C>T | ClinVar dbSNP |
17 | g.43045805G>C | CA916080704 | BRCA1 | c.5465-3C>G (n.5465-3C>G) c.5468-3C>G (n.5468-3C>G) c.5342-3C>G (n.5342-3C>G) c.5462-3C>G (n.5462-3C>G) c.5390-3C>G (n.5390-3C>G) c.2156-3C>G (n.2156-3C>G) c.2018-3C>G (n.2018-3C>G) c.4580-3C>G (n.4580-3C>G) c.5345-3C>G (n.5345-3C>G) c.5534-3C>G (n.5534-3C>G) c.5327-3C>G (n.5327-3C>G) c.2030-3C>G (n.2030-3C>G) n.1351-3C>G n.832-3C>G c.5531-3C>G (n.5531-3C>G) c.1855-3C>G c.2042-3C>G (n.2042-3C>G) c.*5251-3C>G (n.*5251-3C>G) c.2082-3C>G (n.2082-3C>G) c.398-3C>G (n.398-3C>G) c.941-3C>G (n.941-3C>G) c.167-3C>G (n.167-3C>G) n.5604-3C>G n.5645-3C>G | ClinVar dbSNP |
17 | g.43045805G= | CA2260761166 | BRCA1 | c.5465-3C= (n.5465-3C=) c.5468-3C= (n.5468-3C=) c.5342-3C= (n.5342-3C=) c.5462-3C= (n.5462-3C=) c.5390-3C= (n.5390-3C=) c.2156-3C= (n.2156-3C=) c.2018-3C= (n.2018-3C=) c.4580-3C= (n.4580-3C=) c.5345-3C= (n.5345-3C=) c.5534-3C= (n.5534-3C=) c.5327-3C= (n.5327-3C=) c.2030-3C= (n.2030-3C=) n.1351-3C= n.832-3C= c.5531-3C= (n.5531-3C=) c.1855-3C= c.2042-3C= (n.2042-3C=) c.*5251-3C= (n.*5251-3C=) c.2082-3C= (n.2082-3C=) c.398-3C= (n.398-3C=) c.941-3C= (n.941-3C=) c.167-3C= (n.167-3C=) n.5604-3C= n.5645-3C= | |
17 | g.43045805G>T | CA916080702 | BRCA1 | c.5465-3C>A (n.5465-3C>A) c.5468-3C>A (n.5468-3C>A) c.5342-3C>A (n.5342-3C>A) c.5462-3C>A (n.5462-3C>A) c.5390-3C>A (n.5390-3C>A) c.2156-3C>A (n.2156-3C>A) c.2018-3C>A (n.2018-3C>A) c.4580-3C>A (n.4580-3C>A) c.5345-3C>A (n.5345-3C>A) c.5534-3C>A (n.5534-3C>A) c.5327-3C>A (n.5327-3C>A) c.2030-3C>A (n.2030-3C>A) n.1351-3C>A n.832-3C>A c.5531-3C>A (n.5531-3C>A) c.1855-3C>A c.2042-3C>A (n.2042-3C>A) c.*5251-3C>A (n.*5251-3C>A) c.2082-3C>A (n.2082-3C>A) c.398-3C>A (n.398-3C>A) c.941-3C>A (n.941-3C>A) c.167-3C>A (n.167-3C>A) n.5604-3C>A n.5645-3C>A | ClinVar dbSNP |
17 | g.43045806G>A | CA055141 | BRCA1 | c.5465-4C>T (n.5465-4C>T) c.5468-4C>T (n.5468-4C>T) c.5342-4C>T (n.5342-4C>T) c.5462-4C>T (n.5462-4C>T) c.5390-4C>T (n.5390-4C>T) c.2156-4C>T (n.2156-4C>T) c.2018-4C>T (n.2018-4C>T) c.4580-4C>T (n.4580-4C>T) c.5345-4C>T (n.5345-4C>T) c.5534-4C>T (n.5534-4C>T) c.5327-4C>T (n.5327-4C>T) c.2030-4C>T (n.2030-4C>T) n.1351-4C>T n.832-4C>T c.5531-4C>T (n.5531-4C>T) c.1855-4C>T c.2042-4C>T (n.2042-4C>T) c.*5251-4C>T (n.*5251-4C>T) c.2082-4C>T (n.2082-4C>T) c.398-4C>T (n.398-4C>T) c.941-4C>T (n.941-4C>T) c.167-4C>T (n.167-4C>T) n.5604-4C>T n.5645-4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045806G>C | CA916080705 | BRCA1 | c.5465-4C>G (n.5465-4C>G) c.5468-4C>G (n.5468-4C>G) c.5342-4C>G (n.5342-4C>G) c.5462-4C>G (n.5462-4C>G) c.5390-4C>G (n.5390-4C>G) c.2156-4C>G (n.2156-4C>G) c.2018-4C>G (n.2018-4C>G) c.4580-4C>G (n.4580-4C>G) c.5345-4C>G (n.5345-4C>G) c.5534-4C>G (n.5534-4C>G) c.5327-4C>G (n.5327-4C>G) c.2030-4C>G (n.2030-4C>G) n.1351-4C>G n.832-4C>G c.5531-4C>G (n.5531-4C>G) c.1855-4C>G c.2042-4C>G (n.2042-4C>G) c.*5251-4C>G (n.*5251-4C>G) c.2082-4C>G (n.2082-4C>G) c.398-4C>G (n.398-4C>G) c.941-4C>G (n.941-4C>G) c.167-4C>G (n.167-4C>G) n.5604-4C>G n.5645-4C>G | ClinVar dbSNP |
17 | g.43045806G= | CA2260761167 | BRCA1 | c.5465-4C= (n.5465-4C=) c.5468-4C= (n.5468-4C=) c.5342-4C= (n.5342-4C=) c.5462-4C= (n.5462-4C=) c.5390-4C= (n.5390-4C=) c.2156-4C= (n.2156-4C=) c.2018-4C= (n.2018-4C=) c.4580-4C= (n.4580-4C=) c.5345-4C= (n.5345-4C=) c.5534-4C= (n.5534-4C=) c.5327-4C= (n.5327-4C=) c.2030-4C= (n.2030-4C=) n.1351-4C= n.832-4C= c.5531-4C= (n.5531-4C=) c.1855-4C= c.2042-4C= (n.2042-4C=) c.*5251-4C= (n.*5251-4C=) c.2082-4C= (n.2082-4C=) c.398-4C= (n.398-4C=) c.941-4C= (n.941-4C=) c.167-4C= (n.167-4C=) n.5604-4C= n.5645-4C= | |
17 | g.43045806G>T | CA915950027 | BRCA1 | c.5465-4C>A (n.5465-4C>A) c.5468-4C>A (n.5468-4C>A) c.5342-4C>A (n.5342-4C>A) c.5462-4C>A (n.5462-4C>A) c.5390-4C>A (n.5390-4C>A) c.2156-4C>A (n.2156-4C>A) c.2018-4C>A (n.2018-4C>A) c.4580-4C>A (n.4580-4C>A) c.5345-4C>A (n.5345-4C>A) c.5534-4C>A (n.5534-4C>A) c.5327-4C>A (n.5327-4C>A) c.2030-4C>A (n.2030-4C>A) n.1351-4C>A n.832-4C>A c.5531-4C>A (n.5531-4C>A) c.1855-4C>A c.2042-4C>A (n.2042-4C>A) c.*5251-4C>A (n.*5251-4C>A) c.2082-4C>A (n.2082-4C>A) c.398-4C>A (n.398-4C>A) c.941-4C>A (n.941-4C>A) c.167-4C>A (n.167-4C>A) n.5604-4C>A n.5645-4C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43045807A= | CA2260761168 | BRCA1 | c.5465-5T= (n.5465-5T=) c.5468-5T= (n.5468-5T=) c.5342-5T= (n.5342-5T=) c.5462-5T= (n.5462-5T=) c.5390-5T= (n.5390-5T=) c.2156-5T= (n.2156-5T=) c.2018-5T= (n.2018-5T=) c.4580-5T= (n.4580-5T=) c.5345-5T= (n.5345-5T=) c.5534-5T= (n.5534-5T=) c.5327-5T= (n.5327-5T=) c.2030-5T= (n.2030-5T=) n.1351-5T= n.832-5T= c.5531-5T= (n.5531-5T=) c.1855-5T= c.2042-5T= (n.2042-5T=) c.*5251-5T= (n.*5251-5T=) c.2082-5T= (n.2082-5T=) c.398-5T= (n.398-5T=) c.941-5T= (n.941-5T=) c.167-5T= (n.167-5T=) n.5604-5T= n.5645-5T= | |
17 | g.43045807A>C | CA003627 | BRCA1 | c.5465-5T>G (n.5465-5T>G) c.5468-5T>G (n.5468-5T>G) c.5342-5T>G (n.5342-5T>G) c.5462-5T>G (n.5462-5T>G) c.5390-5T>G (n.5390-5T>G) c.2156-5T>G (n.2156-5T>G) c.2018-5T>G (n.2018-5T>G) c.4580-5T>G (n.4580-5T>G) c.5345-5T>G (n.5345-5T>G) c.5534-5T>G (n.5534-5T>G) c.5327-5T>G (n.5327-5T>G) c.2030-5T>G (n.2030-5T>G) n.1351-5T>G n.832-5T>G c.5531-5T>G (n.5531-5T>G) c.1855-5T>G c.2042-5T>G (n.2042-5T>G) c.*5251-5T>G (n.*5251-5T>G) c.2082-5T>G (n.2082-5T>G) c.398-5T>G (n.398-5T>G) c.941-5T>G (n.941-5T>G) c.167-5T>G (n.167-5T>G) n.5604-5T>G n.5645-5T>G | ClinVar dbSNP |
17 | g.43045807A>G | CA916080706 | BRCA1 | c.5465-5T>C (n.5465-5T>C) c.5468-5T>C (n.5468-5T>C) c.5342-5T>C (n.5342-5T>C) c.5462-5T>C (n.5462-5T>C) c.5390-5T>C (n.5390-5T>C) c.2156-5T>C (n.2156-5T>C) c.2018-5T>C (n.2018-5T>C) c.4580-5T>C (n.4580-5T>C) c.5345-5T>C (n.5345-5T>C) c.5534-5T>C (n.5534-5T>C) c.5327-5T>C (n.5327-5T>C) c.2030-5T>C (n.2030-5T>C) n.1351-5T>C n.832-5T>C c.5531-5T>C (n.5531-5T>C) c.1855-5T>C c.2042-5T>C (n.2042-5T>C) c.*5251-5T>C (n.*5251-5T>C) c.2082-5T>C (n.2082-5T>C) c.398-5T>C (n.398-5T>C) c.941-5T>C (n.941-5T>C) c.167-5T>C (n.167-5T>C) n.5604-5T>C n.5645-5T>C | ClinVar dbSNP |
17 | g.43045807A>T | CA916080707 | BRCA1 | c.5465-5T>A (n.5465-5T>A) c.5468-5T>A (n.5468-5T>A) c.5342-5T>A (n.5342-5T>A) c.5462-5T>A (n.5462-5T>A) c.5390-5T>A (n.5390-5T>A) c.2156-5T>A (n.2156-5T>A) c.2018-5T>A (n.2018-5T>A) c.4580-5T>A (n.4580-5T>A) c.5345-5T>A (n.5345-5T>A) c.5534-5T>A (n.5534-5T>A) c.5327-5T>A (n.5327-5T>A) c.2030-5T>A (n.2030-5T>A) n.1351-5T>A n.832-5T>A c.5531-5T>A (n.5531-5T>A) c.1855-5T>A c.2042-5T>A (n.2042-5T>A) c.*5251-5T>A (n.*5251-5T>A) c.2082-5T>A (n.2082-5T>A) c.398-5T>A (n.398-5T>A) c.941-5T>A (n.941-5T>A) c.167-5T>A (n.167-5T>A) n.5604-5T>A n.5645-5T>A | ClinVar dbSNP |
17 | g.43045808G>A | CA916080708 | BRCA1 | c.5465-6C>T (n.5465-6C>T) c.5468-6C>T (n.5468-6C>T) c.5342-6C>T (n.5342-6C>T) c.5462-6C>T (n.5462-6C>T) c.5390-6C>T (n.5390-6C>T) c.2156-6C>T (n.2156-6C>T) c.2018-6C>T (n.2018-6C>T) c.4580-6C>T (n.4580-6C>T) c.5345-6C>T (n.5345-6C>T) c.5534-6C>T (n.5534-6C>T) c.5327-6C>T (n.5327-6C>T) c.2030-6C>T (n.2030-6C>T) n.1351-6C>T n.832-6C>T c.5531-6C>T (n.5531-6C>T) c.1855-6C>T c.2042-6C>T (n.2042-6C>T) c.*5251-6C>T (n.*5251-6C>T) c.2082-6C>T (n.2082-6C>T) c.398-6C>T (n.398-6C>T) c.941-6C>T (n.941-6C>T) c.167-6C>T (n.167-6C>T) n.5604-6C>T n.5645-6C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43045808G>C | CA916080709 | BRCA1 | c.5465-6C>G (n.5465-6C>G) c.5468-6C>G (n.5468-6C>G) c.5342-6C>G (n.5342-6C>G) c.5462-6C>G (n.5462-6C>G) c.5390-6C>G (n.5390-6C>G) c.2156-6C>G (n.2156-6C>G) c.2018-6C>G (n.2018-6C>G) c.4580-6C>G (n.4580-6C>G) c.5345-6C>G (n.5345-6C>G) c.5534-6C>G (n.5534-6C>G) c.5327-6C>G (n.5327-6C>G) c.2030-6C>G (n.2030-6C>G) n.1351-6C>G n.832-6C>G c.5531-6C>G (n.5531-6C>G) c.1855-6C>G c.2042-6C>G (n.2042-6C>G) c.*5251-6C>G (n.*5251-6C>G) c.2082-6C>G (n.2082-6C>G) c.398-6C>G (n.398-6C>G) c.941-6C>G (n.941-6C>G) c.167-6C>G (n.167-6C>G) n.5604-6C>G n.5645-6C>G | ClinVar dbSNP |
17 | g.43045808G= | CA2260761169 | BRCA1 | c.5465-6C= (n.5465-6C=) c.5468-6C= (n.5468-6C=) c.5342-6C= (n.5342-6C=) c.5462-6C= (n.5462-6C=) c.5390-6C= (n.5390-6C=) c.2156-6C= (n.2156-6C=) c.2018-6C= (n.2018-6C=) c.4580-6C= (n.4580-6C=) c.5345-6C= (n.5345-6C=) c.5534-6C= (n.5534-6C=) c.5327-6C= (n.5327-6C=) c.2030-6C= (n.2030-6C=) n.1351-6C= n.832-6C= c.5531-6C= (n.5531-6C=) c.1855-6C= c.2042-6C= (n.2042-6C=) c.*5251-6C= (n.*5251-6C=) c.2082-6C= (n.2082-6C=) c.398-6C= (n.398-6C=) c.941-6C= (n.941-6C=) c.167-6C= (n.167-6C=) n.5604-6C= n.5645-6C= | |
17 | g.43045808G>T | CA916080710 | BRCA1 | c.5465-6C>A (n.5465-6C>A) c.5468-6C>A (n.5468-6C>A) c.5342-6C>A (n.5342-6C>A) c.5462-6C>A (n.5462-6C>A) c.5390-6C>A (n.5390-6C>A) c.2156-6C>A (n.2156-6C>A) c.2018-6C>A (n.2018-6C>A) c.4580-6C>A (n.4580-6C>A) c.5345-6C>A (n.5345-6C>A) c.5534-6C>A (n.5534-6C>A) c.5327-6C>A (n.5327-6C>A) c.2030-6C>A (n.2030-6C>A) n.1351-6C>A n.832-6C>A c.5531-6C>A (n.5531-6C>A) c.1855-6C>A c.2042-6C>A (n.2042-6C>A) c.*5251-6C>A (n.*5251-6C>A) c.2082-6C>A (n.2082-6C>A) c.398-6C>A (n.398-6C>A) c.941-6C>A (n.941-6C>A) c.167-6C>A (n.167-6C>A) n.5604-6C>A n.5645-6C>A | ClinVar dbSNP |
17 | g.43045809A= | CA2260761170 | BRCA1 | c.5465-7T= (n.5465-7T=) c.5468-7T= (n.5468-7T=) c.5342-7T= (n.5342-7T=) c.5462-7T= (n.5462-7T=) c.5390-7T= (n.5390-7T=) c.2156-7T= (n.2156-7T=) c.2018-7T= (n.2018-7T=) c.4580-7T= (n.4580-7T=) c.5345-7T= (n.5345-7T=) c.5534-7T= (n.5534-7T=) c.5327-7T= (n.5327-7T=) c.2030-7T= (n.2030-7T=) n.1351-7T= n.832-7T= c.5531-7T= (n.5531-7T=) c.1855-7T= c.2042-7T= (n.2042-7T=) c.*5251-7T= (n.*5251-7T=) c.2082-7T= (n.2082-7T=) c.398-7T= (n.398-7T=) c.941-7T= (n.941-7T=) c.167-7T= (n.167-7T=) n.5604-7T= n.5645-7T= | |
17 | g.43045809A>C | CA916080713 | BRCA1 | c.5465-7T>G (n.5465-7T>G) c.5468-7T>G (n.5468-7T>G) c.5342-7T>G (n.5342-7T>G) c.5462-7T>G (n.5462-7T>G) c.5390-7T>G (n.5390-7T>G) c.2156-7T>G (n.2156-7T>G) c.2018-7T>G (n.2018-7T>G) c.4580-7T>G (n.4580-7T>G) c.5345-7T>G (n.5345-7T>G) c.5534-7T>G (n.5534-7T>G) c.5327-7T>G (n.5327-7T>G) c.2030-7T>G (n.2030-7T>G) n.1351-7T>G n.832-7T>G c.5531-7T>G (n.5531-7T>G) c.1855-7T>G c.2042-7T>G (n.2042-7T>G) c.*5251-7T>G (n.*5251-7T>G) c.2082-7T>G (n.2082-7T>G) c.398-7T>G (n.398-7T>G) c.941-7T>G (n.941-7T>G) c.167-7T>G (n.167-7T>G) n.5604-7T>G n.5645-7T>G | ClinVar dbSNP |
17 | g.43045809A>G | CA916080711 | BRCA1 | c.5465-7T>C (n.5465-7T>C) c.5468-7T>C (n.5468-7T>C) c.5342-7T>C (n.5342-7T>C) c.5462-7T>C (n.5462-7T>C) c.5390-7T>C (n.5390-7T>C) c.2156-7T>C (n.2156-7T>C) c.2018-7T>C (n.2018-7T>C) c.4580-7T>C (n.4580-7T>C) c.5345-7T>C (n.5345-7T>C) c.5534-7T>C (n.5534-7T>C) c.5327-7T>C (n.5327-7T>C) c.2030-7T>C (n.2030-7T>C) n.1351-7T>C n.832-7T>C c.5531-7T>C (n.5531-7T>C) c.1855-7T>C c.2042-7T>C (n.2042-7T>C) c.*5251-7T>C (n.*5251-7T>C) c.2082-7T>C (n.2082-7T>C) c.398-7T>C (n.398-7T>C) c.941-7T>C (n.941-7T>C) c.167-7T>C (n.167-7T>C) n.5604-7T>C n.5645-7T>C | ClinVar dbSNP |
17 | g.43045809A>T | CA916080712 | BRCA1 | c.5465-7T>A (n.5465-7T>A) c.5468-7T>A (n.5468-7T>A) c.5342-7T>A (n.5342-7T>A) c.5462-7T>A (n.5462-7T>A) c.5390-7T>A (n.5390-7T>A) c.2156-7T>A (n.2156-7T>A) c.2018-7T>A (n.2018-7T>A) c.4580-7T>A (n.4580-7T>A) c.5345-7T>A (n.5345-7T>A) c.5534-7T>A (n.5534-7T>A) c.5327-7T>A (n.5327-7T>A) c.2030-7T>A (n.2030-7T>A) n.1351-7T>A n.832-7T>A c.5531-7T>A (n.5531-7T>A) c.1855-7T>A c.2042-7T>A (n.2042-7T>A) c.*5251-7T>A (n.*5251-7T>A) c.2082-7T>A (n.2082-7T>A) c.398-7T>A (n.398-7T>A) c.941-7T>A (n.941-7T>A) c.167-7T>A (n.167-7T>A) n.5604-7T>A n.5645-7T>A | ClinVar dbSNP |
17 | g.43045810C>A | CA915950028 | BRCA1 | c.5465-8G>T (n.5465-8G>T) c.5468-8G>T (n.5468-8G>T) c.5342-8G>T (n.5342-8G>T) c.5462-8G>T (n.5462-8G>T) c.5390-8G>T (n.5390-8G>T) c.2156-8G>T (n.2156-8G>T) c.2018-8G>T (n.2018-8G>T) c.4580-8G>T (n.4580-8G>T) c.5345-8G>T (n.5345-8G>T) c.5534-8G>T (n.5534-8G>T) c.5327-8G>T (n.5327-8G>T) c.2030-8G>T (n.2030-8G>T) n.1351-8G>T n.832-8G>T c.5531-8G>T (n.5531-8G>T) c.1855-8G>T c.2042-8G>T (n.2042-8G>T) c.*5251-8G>T (n.*5251-8G>T) c.2082-8G>T (n.2082-8G>T) c.398-8G>T (n.398-8G>T) c.941-8G>T (n.941-8G>T) c.167-8G>T (n.167-8G>T) n.5604-8G>T n.5645-8G>T | ClinVar dbSNP |
17 | g.43045810C= | CA2260761171 | BRCA1 | c.5465-8G= (n.5465-8G=) c.5468-8G= (n.5468-8G=) c.5342-8G= (n.5342-8G=) c.5462-8G= (n.5462-8G=) c.5390-8G= (n.5390-8G=) c.2156-8G= (n.2156-8G=) c.2018-8G= (n.2018-8G=) c.4580-8G= (n.4580-8G=) c.5345-8G= (n.5345-8G=) c.5534-8G= (n.5534-8G=) c.5327-8G= (n.5327-8G=) c.2030-8G= (n.2030-8G=) n.1351-8G= n.832-8G= c.5531-8G= (n.5531-8G=) c.1855-8G= c.2042-8G= (n.2042-8G=) c.*5251-8G= (n.*5251-8G=) c.2082-8G= (n.2082-8G=) c.398-8G= (n.398-8G=) c.941-8G= (n.941-8G=) c.167-8G= (n.167-8G=) n.5604-8G= n.5645-8G= | |
17 | g.43045810C>G | CA916080714 | BRCA1 | c.5465-8G>C (n.5465-8G>C) c.5468-8G>C (n.5468-8G>C) c.5342-8G>C (n.5342-8G>C) c.5462-8G>C (n.5462-8G>C) c.5390-8G>C (n.5390-8G>C) c.2156-8G>C (n.2156-8G>C) c.2018-8G>C (n.2018-8G>C) c.4580-8G>C (n.4580-8G>C) c.5345-8G>C (n.5345-8G>C) c.5534-8G>C (n.5534-8G>C) c.5327-8G>C (n.5327-8G>C) c.2030-8G>C (n.2030-8G>C) n.1351-8G>C n.832-8G>C c.5531-8G>C (n.5531-8G>C) c.1855-8G>C c.2042-8G>C (n.2042-8G>C) c.*5251-8G>C (n.*5251-8G>C) c.2082-8G>C (n.2082-8G>C) c.398-8G>C (n.398-8G>C) c.941-8G>C (n.941-8G>C) c.167-8G>C (n.167-8G>C) n.5604-8G>C n.5645-8G>C | ClinVar dbSNP |
17 | g.43045810C>T | CA916080715 | BRCA1 | c.5465-8G>A (n.5465-8G>A) c.5468-8G>A (n.5468-8G>A) c.5342-8G>A (n.5342-8G>A) c.5462-8G>A (n.5462-8G>A) c.5390-8G>A (n.5390-8G>A) c.2156-8G>A (n.2156-8G>A) c.2018-8G>A (n.2018-8G>A) c.4580-8G>A (n.4580-8G>A) c.5345-8G>A (n.5345-8G>A) c.5534-8G>A (n.5534-8G>A) c.5327-8G>A (n.5327-8G>A) c.2030-8G>A (n.2030-8G>A) n.1351-8G>A n.832-8G>A c.5531-8G>A (n.5531-8G>A) c.1855-8G>A c.2042-8G>A (n.2042-8G>A) c.*5251-8G>A (n.*5251-8G>A) c.2082-8G>A (n.2082-8G>A) c.398-8G>A (n.398-8G>A) c.941-8G>A (n.941-8G>A) c.167-8G>A (n.167-8G>A) n.5604-8G>A n.5645-8G>A | ClinVar dbSNP |
17 | g.43045810_43045812delinsCAG | CA2260761172 | BRCA1 | c.5465-10_5465-8delinsCTG (n.5465-10_5465-8delinsCTG) c.5468-10_5468-8delinsCTG (n.5468-10_5468-8delinsCTG) c.5342-10_5342-8delinsCTG (n.5342-10_5342-8delinsCTG) c.5462-10_5462-8delinsCTG (n.5462-10_5462-8delinsCTG) c.5390-10_5390-8delinsCTG (n.5390-10_5390-8delinsCTG) c.2156-10_2156-8delinsCTG (n.2156-10_2156-8delinsCTG) c.2018-10_2018-8delinsCTG (n.2018-10_2018-8delinsCTG) c.4580-10_4580-8delinsCTG (n.4580-10_4580-8delinsCTG) c.5345-10_5345-8delinsCTG (n.5345-10_5345-8delinsCTG) c.5534-10_5534-8delinsCTG (n.5534-10_5534-8delinsCTG) c.5327-10_5327-8delinsCTG (n.5327-10_5327-8delinsCTG) c.2030-10_2030-8delinsCTG (n.2030-10_2030-8delinsCTG) n.1351-10_1351-8delinsCTG n.832-10_832-8delinsCTG c.5531-10_5531-8delinsCTG (n.5531-10_5531-8delinsCTG) c.1855-10_1855-8delinsCTG c.2042-10_2042-8delinsCTG (n.2042-10_2042-8delinsCTG) c.*5251-10_*5251-8delinsCTG (n.*5251-10_*5251-8delinsCTG) c.2082-10_2082-8delinsCTG (n.2082-10_2082-8delinsCTG) c.398-10_398-8delinsCTG (n.398-10_398-8delinsCTG) c.941-10_941-8delinsCTG (n.941-10_941-8delinsCTG) c.167-10_167-8delinsCTG (n.167-10_167-8delinsCTG) n.5604-10_5604-8delinsCTG n.5645-10_5645-8delinsCTG | |
17 | g.43045811A= | CA2260761173 | BRCA1 | c.5465-9T= (n.5465-9T=) c.5468-9T= (n.5468-9T=) c.5342-9T= (n.5342-9T=) c.5462-9T= (n.5462-9T=) c.5390-9T= (n.5390-9T=) c.2156-9T= (n.2156-9T=) c.2018-9T= (n.2018-9T=) c.4580-9T= (n.4580-9T=) c.5345-9T= (n.5345-9T=) c.5534-9T= (n.5534-9T=) c.5327-9T= (n.5327-9T=) c.2030-9T= (n.2030-9T=) n.1351-9T= n.832-9T= c.5531-9T= (n.5531-9T=) c.1855-9T= c.2042-9T= (n.2042-9T=) c.*5251-9T= (n.*5251-9T=) c.2082-9T= (n.2082-9T=) c.398-9T= (n.398-9T=) c.941-9T= (n.941-9T=) c.167-9T= (n.167-9T=) n.5604-9T= n.5645-9T= | |
17 | g.43045811A>C | CA916080716 | BRCA1 | c.5465-9T>G (n.5465-9T>G) c.5468-9T>G (n.5468-9T>G) c.5342-9T>G (n.5342-9T>G) c.5462-9T>G (n.5462-9T>G) c.5390-9T>G (n.5390-9T>G) c.2156-9T>G (n.2156-9T>G) c.2018-9T>G (n.2018-9T>G) c.4580-9T>G (n.4580-9T>G) c.5345-9T>G (n.5345-9T>G) c.5534-9T>G (n.5534-9T>G) c.5327-9T>G (n.5327-9T>G) c.2030-9T>G (n.2030-9T>G) n.1351-9T>G n.832-9T>G c.5531-9T>G (n.5531-9T>G) c.1855-9T>G c.2042-9T>G (n.2042-9T>G) c.*5251-9T>G (n.*5251-9T>G) c.2082-9T>G (n.2082-9T>G) c.398-9T>G (n.398-9T>G) c.941-9T>G (n.941-9T>G) c.167-9T>G (n.167-9T>G) n.5604-9T>G n.5645-9T>G | ClinVar dbSNP gnomAD v4 |
17 | g.43045811A>G | CA916080718 | BRCA1 | c.5465-9T>C (n.5465-9T>C) c.5468-9T>C (n.5468-9T>C) c.5342-9T>C (n.5342-9T>C) c.5462-9T>C (n.5462-9T>C) c.5390-9T>C (n.5390-9T>C) c.2156-9T>C (n.2156-9T>C) c.2018-9T>C (n.2018-9T>C) c.4580-9T>C (n.4580-9T>C) c.5345-9T>C (n.5345-9T>C) c.5534-9T>C (n.5534-9T>C) c.5327-9T>C (n.5327-9T>C) c.2030-9T>C (n.2030-9T>C) n.1351-9T>C n.832-9T>C c.5531-9T>C (n.5531-9T>C) c.1855-9T>C c.2042-9T>C (n.2042-9T>C) c.*5251-9T>C (n.*5251-9T>C) c.2082-9T>C (n.2082-9T>C) c.398-9T>C (n.398-9T>C) c.941-9T>C (n.941-9T>C) c.167-9T>C (n.167-9T>C) n.5604-9T>C n.5645-9T>C | ClinVar dbSNP |
17 | g.43045811A>T | CA916080717 | BRCA1 | c.5465-9T>A (n.5465-9T>A) c.5468-9T>A (n.5468-9T>A) c.5342-9T>A (n.5342-9T>A) c.5462-9T>A (n.5462-9T>A) c.5390-9T>A (n.5390-9T>A) c.2156-9T>A (n.2156-9T>A) c.2018-9T>A (n.2018-9T>A) c.4580-9T>A (n.4580-9T>A) c.5345-9T>A (n.5345-9T>A) c.5534-9T>A (n.5534-9T>A) c.5327-9T>A (n.5327-9T>A) c.2030-9T>A (n.2030-9T>A) n.1351-9T>A n.832-9T>A c.5531-9T>A (n.5531-9T>A) c.1855-9T>A c.2042-9T>A (n.2042-9T>A) c.*5251-9T>A (n.*5251-9T>A) c.2082-9T>A (n.2082-9T>A) c.398-9T>A (n.398-9T>A) c.941-9T>A (n.941-9T>A) c.167-9T>A (n.167-9T>A) n.5604-9T>A n.5645-9T>A | ClinVar dbSNP |
17 | g.43045811dup | CA8589944 | BRCA1 | c.5465-9dup (n.5465-9dup) c.5468-9dup (n.5468-9dup) c.5342-9dup (n.5342-9dup) c.5462-9dup (n.5462-9dup) c.5390-9dup (n.5390-9dup) c.2156-9dup (n.2156-9dup) c.2018-9dup (n.2018-9dup) c.4580-9dup (n.4580-9dup) c.5345-9dup (n.5345-9dup) c.5534-9dup (n.5534-9dup) c.5327-9dup (n.5327-9dup) c.2030-9dup (n.2030-9dup) n.1351-9dup n.832-9dup c.5531-9dup (n.5531-9dup) c.1855-9dup c.2042-9dup (n.2042-9dup) c.*5251-9dup (n.*5251-9dup) c.2082-9dup (n.2082-9dup) c.398-9dup (n.398-9dup) c.941-9dup (n.941-9dup) c.167-9dup (n.167-9dup) n.5604-9dup n.5645-9dup | dbSNP ExAC gnomAD v4 |
17 | g.43045814_43045815del | CA003619 | BRCA1 | c.5465-10_5465-9del (n.5465-10_5465-9del) c.5468-10_5468-9del (n.5468-10_5468-9del) c.5342-10_5342-9del (n.5342-10_5342-9del) c.5462-10_5462-9del (n.5462-10_5462-9del) c.5390-10_5390-9del (n.5390-10_5390-9del) c.2156-10_2156-9del (n.2156-10_2156-9del) c.2018-10_2018-9del (n.2018-10_2018-9del) c.4580-10_4580-9del (n.4580-10_4580-9del) c.5345-10_5345-9del (n.5345-10_5345-9del) c.5534-10_5534-9del (n.5534-10_5534-9del) c.5327-10_5327-9del (n.5327-10_5327-9del) c.2030-10_2030-9del (n.2030-10_2030-9del) n.1351-10_1351-9del n.832-10_832-9del c.5531-10_5531-9del (n.5531-10_5531-9del) c.1855-10_1855-9del c.2042-10_2042-9del (n.2042-10_2042-9del) c.*5251-10_*5251-9del (n.*5251-10_*5251-9del) c.2082-10_2082-9del (n.2082-10_2082-9del) c.398-10_398-9del (n.398-10_398-9del) c.941-10_941-9del (n.941-10_941-9del) c.167-10_167-9del (n.167-10_167-9del) n.5604-10_5604-9del n.5645-10_5645-9del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43045812_43045815del | CA2638036270 | BRCA1 | c.5465-12_5465-9del (n.5465-12_5465-9del) c.5468-12_5468-9del (n.5468-12_5468-9del) c.5342-12_5342-9del (n.5342-12_5342-9del) c.5462-12_5462-9del (n.5462-12_5462-9del) c.5390-12_5390-9del (n.5390-12_5390-9del) c.2156-12_2156-9del (n.2156-12_2156-9del) c.2018-12_2018-9del (n.2018-12_2018-9del) c.4580-12_4580-9del (n.4580-12_4580-9del) c.5345-12_5345-9del (n.5345-12_5345-9del) c.5534-12_5534-9del (n.5534-12_5534-9del) c.5327-12_5327-9del (n.5327-12_5327-9del) c.2030-12_2030-9del (n.2030-12_2030-9del) n.1351-12_1351-9del n.832-12_832-9del c.5531-12_5531-9del (n.5531-12_5531-9del) c.1855-12_1855-9del c.2042-12_2042-9del (n.2042-12_2042-9del) c.*5251-12_*5251-9del (n.*5251-12_*5251-9del) c.2082-12_2082-9del (n.2082-12_2082-9del) c.398-12_398-9del (n.398-12_398-9del) c.941-12_941-9del (n.941-12_941-9del) c.167-12_167-9del (n.167-12_167-9del) n.5604-12_5604-9del n.5645-12_5645-9del | gnomAD v4 |
17 | g.43045812G>A | CA658798054 | BRCA1 | c.5465-10C>T (n.5465-10C>T) c.5468-10C>T (n.5468-10C>T) c.5342-10C>T (n.5342-10C>T) c.5462-10C>T (n.5462-10C>T) c.5390-10C>T (n.5390-10C>T) c.2156-10C>T (n.2156-10C>T) c.2018-10C>T (n.2018-10C>T) c.4580-10C>T (n.4580-10C>T) c.5345-10C>T (n.5345-10C>T) c.5534-10C>T (n.5534-10C>T) c.5327-10C>T (n.5327-10C>T) c.2030-10C>T (n.2030-10C>T) n.1351-10C>T n.832-10C>T c.5531-10C>T (n.5531-10C>T) c.1855-10C>T c.2042-10C>T (n.2042-10C>T) c.*5251-10C>T (n.*5251-10C>T) c.2082-10C>T (n.2082-10C>T) c.398-10C>T (n.398-10C>T) c.941-10C>T (n.941-10C>T) c.167-10C>T (n.167-10C>T) n.5604-10C>T n.5645-10C>T | ClinVar dbSNP |
17 | g.43045812G>C | CA916080719 | BRCA1 | c.5465-10C>G (n.5465-10C>G) c.5468-10C>G (n.5468-10C>G) c.5342-10C>G (n.5342-10C>G) c.5462-10C>G (n.5462-10C>G) c.5390-10C>G (n.5390-10C>G) c.2156-10C>G (n.2156-10C>G) c.2018-10C>G (n.2018-10C>G) c.4580-10C>G (n.4580-10C>G) c.5345-10C>G (n.5345-10C>G) c.5534-10C>G (n.5534-10C>G) c.5327-10C>G (n.5327-10C>G) c.2030-10C>G (n.2030-10C>G) n.1351-10C>G n.832-10C>G c.5531-10C>G (n.5531-10C>G) c.1855-10C>G c.2042-10C>G (n.2042-10C>G) c.*5251-10C>G (n.*5251-10C>G) c.2082-10C>G (n.2082-10C>G) c.398-10C>G (n.398-10C>G) c.941-10C>G (n.941-10C>G) c.167-10C>G (n.167-10C>G) n.5604-10C>G n.5645-10C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43045812G= | CA2260761174 | BRCA1 | c.5465-10C= (n.5465-10C=) c.5468-10C= (n.5468-10C=) c.5342-10C= (n.5342-10C=) c.5462-10C= (n.5462-10C=) c.5390-10C= (n.5390-10C=) c.2156-10C= (n.2156-10C=) c.2018-10C= (n.2018-10C=) c.4580-10C= (n.4580-10C=) c.5345-10C= (n.5345-10C=) c.5534-10C= (n.5534-10C=) c.5327-10C= (n.5327-10C=) c.2030-10C= (n.2030-10C=) n.1351-10C= n.832-10C= c.5531-10C= (n.5531-10C=) c.1855-10C= c.2042-10C= (n.2042-10C=) c.*5251-10C= (n.*5251-10C=) c.2082-10C= (n.2082-10C=) c.398-10C= (n.398-10C=) c.941-10C= (n.941-10C=) c.167-10C= (n.167-10C=) n.5604-10C= n.5645-10C= | |
17 | g.43045812G>T | CA003620 | BRCA1 | c.5465-10C>A (n.5465-10C>A) c.5468-10C>A (n.5468-10C>A) c.5342-10C>A (n.5342-10C>A) c.5462-10C>A (n.5462-10C>A) c.5390-10C>A (n.5390-10C>A) c.2156-10C>A (n.2156-10C>A) c.2018-10C>A (n.2018-10C>A) c.4580-10C>A (n.4580-10C>A) c.5345-10C>A (n.5345-10C>A) c.5534-10C>A (n.5534-10C>A) c.5327-10C>A (n.5327-10C>A) c.2030-10C>A (n.2030-10C>A) n.1351-10C>A n.832-10C>A c.5531-10C>A (n.5531-10C>A) c.1855-10C>A c.2042-10C>A (n.2042-10C>A) c.*5251-10C>A (n.*5251-10C>A) c.2082-10C>A (n.2082-10C>A) c.398-10C>A (n.398-10C>A) c.941-10C>A (n.941-10C>A) c.167-10C>A (n.167-10C>A) n.5604-10C>A n.5645-10C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43045813A>G | CA2573154015 | BRCA1 | c.5465-11T>C (n.5465-11T>C) c.5468-11T>C (n.5468-11T>C) c.5342-11T>C (n.5342-11T>C) c.5462-11T>C (n.5462-11T>C) c.5390-11T>C (n.5390-11T>C) c.2156-11T>C (n.2156-11T>C) c.2018-11T>C (n.2018-11T>C) c.4580-11T>C (n.4580-11T>C) c.5345-11T>C (n.5345-11T>C) c.5534-11T>C (n.5534-11T>C) c.5327-11T>C (n.5327-11T>C) c.2030-11T>C (n.2030-11T>C) n.1351-11T>C n.832-11T>C c.5531-11T>C (n.5531-11T>C) c.1855-11T>C c.2042-11T>C (n.2042-11T>C) c.*5251-11T>C (n.*5251-11T>C) c.2082-11T>C (n.2082-11T>C) c.398-11T>C (n.398-11T>C) c.941-11T>C (n.941-11T>C) c.167-11T>C (n.167-11T>C) n.5604-11T>C n.5645-11T>C | ClinVar dbSNP |
17 | g.43045813A>T | CA2733916750 | BRCA1 | c.5465-11T>A (n.5465-11T>A) c.5468-11T>A (n.5468-11T>A) c.5342-11T>A (n.5342-11T>A) c.5462-11T>A (n.5462-11T>A) c.5390-11T>A (n.5390-11T>A) c.2156-11T>A (n.2156-11T>A) c.2018-11T>A (n.2018-11T>A) c.4580-11T>A (n.4580-11T>A) c.5345-11T>A (n.5345-11T>A) c.5534-11T>A (n.5534-11T>A) c.5327-11T>A (n.5327-11T>A) c.2030-11T>A (n.2030-11T>A) n.1351-11T>A n.832-11T>A c.5531-11T>A (n.5531-11T>A) c.1855-11T>A c.2042-11T>A (n.2042-11T>A) c.*5251-11T>A (n.*5251-11T>A) c.2082-11T>A (n.2082-11T>A) c.398-11T>A (n.398-11T>A) c.941-11T>A (n.941-11T>A) c.167-11T>A (n.167-11T>A) n.5604-11T>A n.5645-11T>A | dbSNP |
17 | g.43045814G>A | CA055114 | BRCA1 | c.5465-12C>T (n.5465-12C>T) c.5468-12C>T (n.5468-12C>T) c.5342-12C>T (n.5342-12C>T) c.5462-12C>T (n.5462-12C>T) c.5390-12C>T (n.5390-12C>T) c.2156-12C>T (n.2156-12C>T) c.2018-12C>T (n.2018-12C>T) c.4580-12C>T (n.4580-12C>T) c.5345-12C>T (n.5345-12C>T) c.5534-12C>T (n.5534-12C>T) c.5327-12C>T (n.5327-12C>T) c.2030-12C>T (n.2030-12C>T) n.1351-12C>T n.832-12C>T c.5531-12C>T (n.5531-12C>T) c.1855-12C>T c.2042-12C>T (n.2042-12C>T) c.*5251-12C>T (n.*5251-12C>T) c.2082-12C>T (n.2082-12C>T) c.398-12C>T (n.398-12C>T) c.941-12C>T (n.941-12C>T) c.167-12C>T (n.167-12C>T) n.5604-12C>T n.5645-12C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43045814G>C | CA2733646351 | BRCA1 | c.5465-12C>G (n.5465-12C>G) c.5468-12C>G (n.5468-12C>G) c.5342-12C>G (n.5342-12C>G) c.5462-12C>G (n.5462-12C>G) c.5390-12C>G (n.5390-12C>G) c.2156-12C>G (n.2156-12C>G) c.2018-12C>G (n.2018-12C>G) c.4580-12C>G (n.4580-12C>G) c.5345-12C>G (n.5345-12C>G) c.5534-12C>G (n.5534-12C>G) c.5327-12C>G (n.5327-12C>G) c.2030-12C>G (n.2030-12C>G) n.1351-12C>G n.832-12C>G c.5531-12C>G (n.5531-12C>G) c.1855-12C>G c.2042-12C>G (n.2042-12C>G) c.*5251-12C>G (n.*5251-12C>G) c.2082-12C>G (n.2082-12C>G) c.398-12C>G (n.398-12C>G) c.941-12C>G (n.941-12C>G) c.167-12C>G (n.167-12C>G) n.5604-12C>G n.5645-12C>G | dbSNP |
17 | g.43045814G= | CA2260761175 | BRCA1 | c.5465-12C= (n.5465-12C=) c.5468-12C= (n.5468-12C=) c.5342-12C= (n.5342-12C=) c.5462-12C= (n.5462-12C=) c.5390-12C= (n.5390-12C=) c.2156-12C= (n.2156-12C=) c.2018-12C= (n.2018-12C=) c.4580-12C= (n.4580-12C=) c.5345-12C= (n.5345-12C=) c.5534-12C= (n.5534-12C=) c.5327-12C= (n.5327-12C=) c.2030-12C= (n.2030-12C=) n.1351-12C= n.832-12C= c.5531-12C= (n.5531-12C=) c.1855-12C= c.2042-12C= (n.2042-12C=) c.*5251-12C= (n.*5251-12C=) c.2082-12C= (n.2082-12C=) c.398-12C= (n.398-12C=) c.941-12C= (n.941-12C=) c.167-12C= (n.167-12C=) n.5604-12C= n.5645-12C= | |
17 | g.43045814G>T | CA2740090947 | BRCA1 | c.5465-12C>A (n.5465-12C>A) c.5468-12C>A (n.5468-12C>A) c.5342-12C>A (n.5342-12C>A) c.5462-12C>A (n.5462-12C>A) c.5390-12C>A (n.5390-12C>A) c.2156-12C>A (n.2156-12C>A) c.2018-12C>A (n.2018-12C>A) c.4580-12C>A (n.4580-12C>A) c.5345-12C>A (n.5345-12C>A) c.5534-12C>A (n.5534-12C>A) c.5327-12C>A (n.5327-12C>A) c.2030-12C>A (n.2030-12C>A) n.1351-12C>A n.832-12C>A c.5531-12C>A (n.5531-12C>A) c.1855-12C>A c.2042-12C>A (n.2042-12C>A) c.*5251-12C>A (n.*5251-12C>A) c.2082-12C>A (n.2082-12C>A) c.398-12C>A (n.398-12C>A) c.941-12C>A (n.941-12C>A) c.167-12C>A (n.167-12C>A) n.5604-12C>A n.5645-12C>A | ClinVar |
17 | g.43045815A= | CA2260761176 | BRCA1 | c.5465-13T= (n.5465-13T=) c.5468-13T= (n.5468-13T=) c.5342-13T= (n.5342-13T=) c.5462-13T= (n.5462-13T=) c.5390-13T= (n.5390-13T=) c.2156-13T= (n.2156-13T=) c.2018-13T= (n.2018-13T=) c.4580-13T= (n.4580-13T=) c.5345-13T= (n.5345-13T=) c.5534-13T= (n.5534-13T=) c.5327-13T= (n.5327-13T=) c.2030-13T= (n.2030-13T=) n.1351-13T= n.832-13T= c.5531-13T= (n.5531-13T=) c.1855-13T= c.2042-13T= (n.2042-13T=) c.*5251-13T= (n.*5251-13T=) c.2082-13T= (n.2082-13T=) c.398-13T= (n.398-13T=) c.941-13T= (n.941-13T=) c.167-13T= (n.167-13T=) n.5604-13T= n.5645-13T= | |
17 | g.43045815A>G | CA983865151 | BRCA1 | c.5465-13T>C (n.5465-13T>C) c.5468-13T>C (n.5468-13T>C) c.5342-13T>C (n.5342-13T>C) c.5462-13T>C (n.5462-13T>C) c.5390-13T>C (n.5390-13T>C) c.2156-13T>C (n.2156-13T>C) c.2018-13T>C (n.2018-13T>C) c.4580-13T>C (n.4580-13T>C) c.5345-13T>C (n.5345-13T>C) c.5534-13T>C (n.5534-13T>C) c.5327-13T>C (n.5327-13T>C) c.2030-13T>C (n.2030-13T>C) n.1351-13T>C n.832-13T>C c.5531-13T>C (n.5531-13T>C) c.1855-13T>C c.2042-13T>C (n.2042-13T>C) c.*5251-13T>C (n.*5251-13T>C) c.2082-13T>C (n.2082-13T>C) c.398-13T>C (n.398-13T>C) c.941-13T>C (n.941-13T>C) c.167-13T>C (n.167-13T>C) n.5604-13T>C n.5645-13T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43045815A>T | CA2733692308 | BRCA1 | c.5465-13T>A (n.5465-13T>A) c.5468-13T>A (n.5468-13T>A) c.5342-13T>A (n.5342-13T>A) c.5462-13T>A (n.5462-13T>A) c.5390-13T>A (n.5390-13T>A) c.2156-13T>A (n.2156-13T>A) c.2018-13T>A (n.2018-13T>A) c.4580-13T>A (n.4580-13T>A) c.5345-13T>A (n.5345-13T>A) c.5534-13T>A (n.5534-13T>A) c.5327-13T>A (n.5327-13T>A) c.2030-13T>A (n.2030-13T>A) n.1351-13T>A n.832-13T>A c.5531-13T>A (n.5531-13T>A) c.1855-13T>A c.2042-13T>A (n.2042-13T>A) c.*5251-13T>A (n.*5251-13T>A) c.2082-13T>A (n.2082-13T>A) c.398-13T>A (n.398-13T>A) c.941-13T>A (n.941-13T>A) c.167-13T>A (n.167-13T>A) n.5604-13T>A n.5645-13T>A | dbSNP |
17 | g.43045816A= | CA2260761177 | BRCA1 | c.5465-14T= (n.5465-14T=) c.5468-14T= (n.5468-14T=) c.5342-14T= (n.5342-14T=) c.5462-14T= (n.5462-14T=) c.5390-14T= (n.5390-14T=) c.2156-14T= (n.2156-14T=) c.2018-14T= (n.2018-14T=) c.4580-14T= (n.4580-14T=) c.5345-14T= (n.5345-14T=) c.5534-14T= (n.5534-14T=) c.5327-14T= (n.5327-14T=) c.2030-14T= (n.2030-14T=) n.1351-14T= n.832-14T= c.5531-14T= (n.5531-14T=) c.1855-14T= c.2042-14T= (n.2042-14T=) c.*5251-14T= (n.*5251-14T=) c.2082-14T= (n.2082-14T=) c.398-14T= (n.398-14T=) c.941-14T= (n.941-14T=) c.167-14T= (n.167-14T=) n.5604-14T= n.5645-14T= | |
17 | g.43045816A>C | CA2733674173 | BRCA1 | c.5465-14T>G (n.5465-14T>G) c.5468-14T>G (n.5468-14T>G) c.5342-14T>G (n.5342-14T>G) c.5462-14T>G (n.5462-14T>G) c.5390-14T>G (n.5390-14T>G) c.2156-14T>G (n.2156-14T>G) c.2018-14T>G (n.2018-14T>G) c.4580-14T>G (n.4580-14T>G) c.5345-14T>G (n.5345-14T>G) c.5534-14T>G (n.5534-14T>G) c.5327-14T>G (n.5327-14T>G) c.2030-14T>G (n.2030-14T>G) n.1351-14T>G n.832-14T>G c.5531-14T>G (n.5531-14T>G) c.1855-14T>G c.2042-14T>G (n.2042-14T>G) c.*5251-14T>G (n.*5251-14T>G) c.2082-14T>G (n.2082-14T>G) c.398-14T>G (n.398-14T>G) c.941-14T>G (n.941-14T>G) c.167-14T>G (n.167-14T>G) n.5604-14T>G n.5645-14T>G | dbSNP |
17 | g.43045816A>G | CA626075713 | BRCA1 | c.5465-14T>C (n.5465-14T>C) c.5468-14T>C (n.5468-14T>C) c.5342-14T>C (n.5342-14T>C) c.5462-14T>C (n.5462-14T>C) c.5390-14T>C (n.5390-14T>C) c.2156-14T>C (n.2156-14T>C) c.2018-14T>C (n.2018-14T>C) c.4580-14T>C (n.4580-14T>C) c.5345-14T>C (n.5345-14T>C) c.5534-14T>C (n.5534-14T>C) c.5327-14T>C (n.5327-14T>C) c.2030-14T>C (n.2030-14T>C) n.1351-14T>C n.832-14T>C c.5531-14T>C (n.5531-14T>C) c.1855-14T>C c.2042-14T>C (n.2042-14T>C) c.*5251-14T>C (n.*5251-14T>C) c.2082-14T>C (n.2082-14T>C) c.398-14T>C (n.398-14T>C) c.941-14T>C (n.941-14T>C) c.167-14T>C (n.167-14T>C) n.5604-14T>C n.5645-14T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43045816A>T | CA2733674174 | BRCA1 | c.5465-14T>A (n.5465-14T>A) c.5468-14T>A (n.5468-14T>A) c.5342-14T>A (n.5342-14T>A) c.5462-14T>A (n.5462-14T>A) c.5390-14T>A (n.5390-14T>A) c.2156-14T>A (n.2156-14T>A) c.2018-14T>A (n.2018-14T>A) c.4580-14T>A (n.4580-14T>A) c.5345-14T>A (n.5345-14T>A) c.5534-14T>A (n.5534-14T>A) c.5327-14T>A (n.5327-14T>A) c.2030-14T>A (n.2030-14T>A) n.1351-14T>A n.832-14T>A c.5531-14T>A (n.5531-14T>A) c.1855-14T>A c.2042-14T>A (n.2042-14T>A) c.*5251-14T>A (n.*5251-14T>A) c.2082-14T>A (n.2082-14T>A) c.398-14T>A (n.398-14T>A) c.941-14T>A (n.941-14T>A) c.167-14T>A (n.167-14T>A) n.5604-14T>A n.5645-14T>A | dbSNP |
17 | g.43045817C= | CA2260761178 | BRCA1 | c.5465-15G= (n.5465-15G=) c.5468-15G= (n.5468-15G=) c.5342-15G= (n.5342-15G=) c.5462-15G= (n.5462-15G=) c.5390-15G= (n.5390-15G=) c.2156-15G= (n.2156-15G=) c.2018-15G= (n.2018-15G=) c.4580-15G= (n.4580-15G=) c.5345-15G= (n.5345-15G=) c.5534-15G= (n.5534-15G=) c.5327-15G= (n.5327-15G=) c.2030-15G= (n.2030-15G=) n.1351-15G= n.832-15G= c.5531-15G= (n.5531-15G=) c.1855-15G= c.2042-15G= (n.2042-15G=) c.*5251-15G= (n.*5251-15G=) c.2082-15G= (n.2082-15G=) c.398-15G= (n.398-15G=) c.941-15G= (n.941-15G=) c.167-15G= (n.167-15G=) n.5604-15G= n.5645-15G= | |
17 | g.43045817C>G | CA2733692309 | BRCA1 | c.5465-15G>C (n.5465-15G>C) c.5468-15G>C (n.5468-15G>C) c.5342-15G>C (n.5342-15G>C) c.5462-15G>C (n.5462-15G>C) c.5390-15G>C (n.5390-15G>C) c.2156-15G>C (n.2156-15G>C) c.2018-15G>C (n.2018-15G>C) c.4580-15G>C (n.4580-15G>C) c.5345-15G>C (n.5345-15G>C) c.5534-15G>C (n.5534-15G>C) c.5327-15G>C (n.5327-15G>C) c.2030-15G>C (n.2030-15G>C) n.1351-15G>C n.832-15G>C c.5531-15G>C (n.5531-15G>C) c.1855-15G>C c.2042-15G>C (n.2042-15G>C) c.*5251-15G>C (n.*5251-15G>C) c.2082-15G>C (n.2082-15G>C) c.398-15G>C (n.398-15G>C) c.941-15G>C (n.941-15G>C) c.167-15G>C (n.167-15G>C) n.5604-15G>C n.5645-15G>C | dbSNP |
17 | g.43045817C>T | CA2260761179 | BRCA1 | c.5465-15G>A (n.5465-15G>A) c.5468-15G>A (n.5468-15G>A) c.5342-15G>A (n.5342-15G>A) c.5462-15G>A (n.5462-15G>A) c.5390-15G>A (n.5390-15G>A) c.2156-15G>A (n.2156-15G>A) c.2018-15G>A (n.2018-15G>A) c.4580-15G>A (n.4580-15G>A) c.5345-15G>A (n.5345-15G>A) c.5534-15G>A (n.5534-15G>A) c.5327-15G>A (n.5327-15G>A) c.2030-15G>A (n.2030-15G>A) n.1351-15G>A n.832-15G>A c.5531-15G>A (n.5531-15G>A) c.1855-15G>A c.2042-15G>A (n.2042-15G>A) c.*5251-15G>A (n.*5251-15G>A) c.2082-15G>A (n.2082-15G>A) c.398-15G>A (n.398-15G>A) c.941-15G>A (n.941-15G>A) c.167-15G>A (n.167-15G>A) n.5604-15G>A n.5645-15G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43045818A>C | CA2733916785 | BRCA1 | c.5465-16T>G (n.5465-16T>G) c.5468-16T>G (n.5468-16T>G) c.5342-16T>G (n.5342-16T>G) c.5462-16T>G (n.5462-16T>G) c.5390-16T>G (n.5390-16T>G) c.2156-16T>G (n.2156-16T>G) c.2018-16T>G (n.2018-16T>G) c.4580-16T>G (n.4580-16T>G) c.5345-16T>G (n.5345-16T>G) c.5534-16T>G (n.5534-16T>G) c.5327-16T>G (n.5327-16T>G) c.2030-16T>G (n.2030-16T>G) n.1351-16T>G n.832-16T>G c.5531-16T>G (n.5531-16T>G) c.1855-16T>G c.2042-16T>G (n.2042-16T>G) c.*5251-16T>G (n.*5251-16T>G) c.2082-16T>G (n.2082-16T>G) c.398-16T>G (n.398-16T>G) c.941-16T>G (n.941-16T>G) c.167-16T>G (n.167-16T>G) n.5604-16T>G n.5645-16T>G | dbSNP |
17 | g.43045818A>G | CA2733916784 | BRCA1 | c.5465-16T>C (n.5465-16T>C) c.5468-16T>C (n.5468-16T>C) c.5342-16T>C (n.5342-16T>C) c.5462-16T>C (n.5462-16T>C) c.5390-16T>C (n.5390-16T>C) c.2156-16T>C (n.2156-16T>C) c.2018-16T>C (n.2018-16T>C) c.4580-16T>C (n.4580-16T>C) c.5345-16T>C (n.5345-16T>C) c.5534-16T>C (n.5534-16T>C) c.5327-16T>C (n.5327-16T>C) c.2030-16T>C (n.2030-16T>C) n.1351-16T>C n.832-16T>C c.5531-16T>C (n.5531-16T>C) c.1855-16T>C c.2042-16T>C (n.2042-16T>C) c.*5251-16T>C (n.*5251-16T>C) c.2082-16T>C (n.2082-16T>C) c.398-16T>C (n.398-16T>C) c.941-16T>C (n.941-16T>C) c.167-16T>C (n.167-16T>C) n.5604-16T>C n.5645-16T>C | dbSNP |
17 | g.43045818A>T | CA2733916786 | BRCA1 | c.5465-16T>A (n.5465-16T>A) c.5468-16T>A (n.5468-16T>A) c.5342-16T>A (n.5342-16T>A) c.5462-16T>A (n.5462-16T>A) c.5390-16T>A (n.5390-16T>A) c.2156-16T>A (n.2156-16T>A) c.2018-16T>A (n.2018-16T>A) c.4580-16T>A (n.4580-16T>A) c.5345-16T>A (n.5345-16T>A) c.5534-16T>A (n.5534-16T>A) c.5327-16T>A (n.5327-16T>A) c.2030-16T>A (n.2030-16T>A) n.1351-16T>A n.832-16T>A c.5531-16T>A (n.5531-16T>A) c.1855-16T>A c.2042-16T>A (n.2042-16T>A) c.*5251-16T>A (n.*5251-16T>A) c.2082-16T>A (n.2082-16T>A) c.398-16T>A (n.398-16T>A) c.941-16T>A (n.941-16T>A) c.167-16T>A (n.167-16T>A) n.5604-16T>A n.5645-16T>A | dbSNP |
17 | g.43045819C>A | CA2581308705 | BRCA1 | c.5465-17G>T (n.5465-17G>T) c.5468-17G>T (n.5468-17G>T) c.5342-17G>T (n.5342-17G>T) c.5462-17G>T (n.5462-17G>T) c.5390-17G>T (n.5390-17G>T) c.2156-17G>T (n.2156-17G>T) c.2018-17G>T (n.2018-17G>T) c.4580-17G>T (n.4580-17G>T) c.5345-17G>T (n.5345-17G>T) c.5534-17G>T (n.5534-17G>T) c.5327-17G>T (n.5327-17G>T) c.2030-17G>T (n.2030-17G>T) n.1351-17G>T n.832-17G>T c.5531-17G>T (n.5531-17G>T) c.1855-17G>T c.2042-17G>T (n.2042-17G>T) c.*5251-17G>T (n.*5251-17G>T) c.2082-17G>T (n.2082-17G>T) c.398-17G>T (n.398-17G>T) c.941-17G>T (n.941-17G>T) c.167-17G>T (n.167-17G>T) n.5604-17G>T n.5645-17G>T | dbSNP |
17 | g.43045819C= | CA2260761180 | BRCA1 | c.5465-17G= (n.5465-17G=) c.5468-17G= (n.5468-17G=) c.5342-17G= (n.5342-17G=) c.5462-17G= (n.5462-17G=) c.5390-17G= (n.5390-17G=) c.2156-17G= (n.2156-17G=) c.2018-17G= (n.2018-17G=) c.4580-17G= (n.4580-17G=) c.5345-17G= (n.5345-17G=) c.5534-17G= (n.5534-17G=) c.5327-17G= (n.5327-17G=) c.2030-17G= (n.2030-17G=) n.1351-17G= n.832-17G= c.5531-17G= (n.5531-17G=) c.1855-17G= c.2042-17G= (n.2042-17G=) c.*5251-17G= (n.*5251-17G=) c.2082-17G= (n.2082-17G=) c.398-17G= (n.398-17G=) c.941-17G= (n.941-17G=) c.167-17G= (n.167-17G=) n.5604-17G= n.5645-17G= | |
17 | g.43045819C>G | CA2499224345 | BRCA1 | c.5465-17G>C (n.5465-17G>C) c.5468-17G>C (n.5468-17G>C) c.5342-17G>C (n.5342-17G>C) c.5462-17G>C (n.5462-17G>C) c.5390-17G>C (n.5390-17G>C) c.2156-17G>C (n.2156-17G>C) c.2018-17G>C (n.2018-17G>C) c.4580-17G>C (n.4580-17G>C) c.5345-17G>C (n.5345-17G>C) c.5534-17G>C (n.5534-17G>C) c.5327-17G>C (n.5327-17G>C) c.2030-17G>C (n.2030-17G>C) n.1351-17G>C n.832-17G>C c.5531-17G>C (n.5531-17G>C) c.1855-17G>C c.2042-17G>C (n.2042-17G>C) c.*5251-17G>C (n.*5251-17G>C) c.2082-17G>C (n.2082-17G>C) c.398-17G>C (n.398-17G>C) c.941-17G>C (n.941-17G>C) c.167-17G>C (n.167-17G>C) n.5604-17G>C n.5645-17G>C | ClinVar dbSNP |
17 | g.43045819C>T | CA003621 | BRCA1 | c.5465-17G>A (n.5465-17G>A) c.5468-17G>A (n.5468-17G>A) c.5342-17G>A (n.5342-17G>A) c.5462-17G>A (n.5462-17G>A) c.5390-17G>A (n.5390-17G>A) c.2156-17G>A (n.2156-17G>A) c.2018-17G>A (n.2018-17G>A) c.4580-17G>A (n.4580-17G>A) c.5345-17G>A (n.5345-17G>A) c.5534-17G>A (n.5534-17G>A) c.5327-17G>A (n.5327-17G>A) c.2030-17G>A (n.2030-17G>A) n.1351-17G>A n.832-17G>A c.5531-17G>A (n.5531-17G>A) c.1855-17G>A c.2042-17G>A (n.2042-17G>A) c.*5251-17G>A (n.*5251-17G>A) c.2082-17G>A (n.2082-17G>A) c.398-17G>A (n.398-17G>A) c.941-17G>A (n.941-17G>A) c.167-17G>A (n.167-17G>A) n.5604-17G>A n.5645-17G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43045820A= | CA2260761181 | BRCA1 | c.5465-18T= (n.5465-18T=) c.5468-18T= (n.5468-18T=) c.5342-18T= (n.5342-18T=) c.5462-18T= (n.5462-18T=) c.5390-18T= (n.5390-18T=) c.2156-18T= (n.2156-18T=) c.2018-18T= (n.2018-18T=) c.4580-18T= (n.4580-18T=) c.5345-18T= (n.5345-18T=) c.5534-18T= (n.5534-18T=) c.5327-18T= (n.5327-18T=) c.2030-18T= (n.2030-18T=) n.1351-18T= n.832-18T= c.5531-18T= (n.5531-18T=) c.1855-18T= c.2042-18T= (n.2042-18T=) c.*5251-18T= (n.*5251-18T=) c.2082-18T= (n.2082-18T=) c.398-18T= (n.398-18T=) c.941-18T= (n.941-18T=) c.167-18T= (n.167-18T=) n.5604-18T= n.5645-18T= | |
17 | g.43045820A>C | CA2581308706 | BRCA1 | c.5465-18T>G (n.5465-18T>G) c.5468-18T>G (n.5468-18T>G) c.5342-18T>G (n.5342-18T>G) c.5462-18T>G (n.5462-18T>G) c.5390-18T>G (n.5390-18T>G) c.2156-18T>G (n.2156-18T>G) c.2018-18T>G (n.2018-18T>G) c.4580-18T>G (n.4580-18T>G) c.5345-18T>G (n.5345-18T>G) c.5534-18T>G (n.5534-18T>G) c.5327-18T>G (n.5327-18T>G) c.2030-18T>G (n.2030-18T>G) n.1351-18T>G n.832-18T>G c.5531-18T>G (n.5531-18T>G) c.1855-18T>G c.2042-18T>G (n.2042-18T>G) c.*5251-18T>G (n.*5251-18T>G) c.2082-18T>G (n.2082-18T>G) c.398-18T>G (n.398-18T>G) c.941-18T>G (n.941-18T>G) c.167-18T>G (n.167-18T>G) n.5604-18T>G n.5645-18T>G | |
17 | g.43045820A>G | CA2260761182 | BRCA1 | c.5465-18T>C (n.5465-18T>C) c.5468-18T>C (n.5468-18T>C) c.5342-18T>C (n.5342-18T>C) c.5462-18T>C (n.5462-18T>C) c.5390-18T>C (n.5390-18T>C) c.2156-18T>C (n.2156-18T>C) c.2018-18T>C (n.2018-18T>C) c.4580-18T>C (n.4580-18T>C) c.5345-18T>C (n.5345-18T>C) c.5534-18T>C (n.5534-18T>C) c.5327-18T>C (n.5327-18T>C) c.2030-18T>C (n.2030-18T>C) n.1351-18T>C n.832-18T>C c.5531-18T>C (n.5531-18T>C) c.1855-18T>C c.2042-18T>C (n.2042-18T>C) c.*5251-18T>C (n.*5251-18T>C) c.2082-18T>C (n.2082-18T>C) c.398-18T>C (n.398-18T>C) c.941-18T>C (n.941-18T>C) c.167-18T>C (n.167-18T>C) n.5604-18T>C n.5645-18T>C | dbSNP |
17 | g.43045820A>T | CA003622 | BRCA1 | c.5465-18T>A (n.5465-18T>A) c.5468-18T>A (n.5468-18T>A) c.5342-18T>A (n.5342-18T>A) c.5462-18T>A (n.5462-18T>A) c.5390-18T>A (n.5390-18T>A) c.2156-18T>A (n.2156-18T>A) c.2018-18T>A (n.2018-18T>A) c.4580-18T>A (n.4580-18T>A) c.5345-18T>A (n.5345-18T>A) c.5534-18T>A (n.5534-18T>A) c.5327-18T>A (n.5327-18T>A) c.2030-18T>A (n.2030-18T>A) n.1351-18T>A n.832-18T>A c.5531-18T>A (n.5531-18T>A) c.1855-18T>A c.2042-18T>A (n.2042-18T>A) c.*5251-18T>A (n.*5251-18T>A) c.2082-18T>A (n.2082-18T>A) c.398-18T>A (n.398-18T>A) c.941-18T>A (n.941-18T>A) c.167-18T>A (n.167-18T>A) n.5604-18T>A n.5645-18T>A | ClinVar dbSNP |
17 | g.43045821A>T | CA2733916789 | BRCA1 | c.5465-19T>A (n.5465-19T>A) c.5468-19T>A (n.5468-19T>A) c.5342-19T>A (n.5342-19T>A) c.5462-19T>A (n.5462-19T>A) c.5390-19T>A (n.5390-19T>A) c.2156-19T>A (n.2156-19T>A) c.2018-19T>A (n.2018-19T>A) c.4580-19T>A (n.4580-19T>A) c.5345-19T>A (n.5345-19T>A) c.5534-19T>A (n.5534-19T>A) c.5327-19T>A (n.5327-19T>A) c.2030-19T>A (n.2030-19T>A) n.1351-19T>A n.832-19T>A c.5531-19T>A (n.5531-19T>A) c.1855-19T>A c.2042-19T>A (n.2042-19T>A) c.*5251-19T>A (n.*5251-19T>A) c.2082-19T>A (n.2082-19T>A) c.398-19T>A (n.398-19T>A) c.941-19T>A (n.941-19T>A) c.167-19T>A (n.167-19T>A) n.5604-19T>A n.5645-19T>A | dbSNP |
17 | g.43045822G>A | CA626075714 | BRCA1 | c.5465-20C>T (n.5465-20C>T) c.5468-20C>T (n.5468-20C>T) c.5342-20C>T (n.5342-20C>T) c.5462-20C>T (n.5462-20C>T) c.5390-20C>T (n.5390-20C>T) c.2156-20C>T (n.2156-20C>T) c.2018-20C>T (n.2018-20C>T) c.4580-20C>T (n.4580-20C>T) c.5345-20C>T (n.5345-20C>T) c.5534-20C>T (n.5534-20C>T) c.5327-20C>T (n.5327-20C>T) c.2030-20C>T (n.2030-20C>T) n.1351-20C>T n.832-20C>T c.5531-20C>T (n.5531-20C>T) c.1855-20C>T c.2042-20C>T (n.2042-20C>T) c.*5251-20C>T (n.*5251-20C>T) c.2082-20C>T (n.2082-20C>T) c.398-20C>T (n.398-20C>T) c.941-20C>T (n.941-20C>T) c.167-20C>T (n.167-20C>T) n.5604-20C>T n.5645-20C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43045822G>C | CA2733667013 | BRCA1 | c.5465-20C>G (n.5465-20C>G) c.5468-20C>G (n.5468-20C>G) c.5342-20C>G (n.5342-20C>G) c.5462-20C>G (n.5462-20C>G) c.5390-20C>G (n.5390-20C>G) c.2156-20C>G (n.2156-20C>G) c.2018-20C>G (n.2018-20C>G) c.4580-20C>G (n.4580-20C>G) c.5345-20C>G (n.5345-20C>G) c.5534-20C>G (n.5534-20C>G) c.5327-20C>G (n.5327-20C>G) c.2030-20C>G (n.2030-20C>G) n.1351-20C>G n.832-20C>G c.5531-20C>G (n.5531-20C>G) c.1855-20C>G c.2042-20C>G (n.2042-20C>G) c.*5251-20C>G (n.*5251-20C>G) c.2082-20C>G (n.2082-20C>G) c.398-20C>G (n.398-20C>G) c.941-20C>G (n.941-20C>G) c.167-20C>G (n.167-20C>G) n.5604-20C>G n.5645-20C>G | dbSNP |
17 | g.43045822G= | CA2260761183 | BRCA1 | c.5465-20C= (n.5465-20C=) c.5468-20C= (n.5468-20C=) c.5342-20C= (n.5342-20C=) c.5462-20C= (n.5462-20C=) c.5390-20C= (n.5390-20C=) c.2156-20C= (n.2156-20C=) c.2018-20C= (n.2018-20C=) c.4580-20C= (n.4580-20C=) c.5345-20C= (n.5345-20C=) c.5534-20C= (n.5534-20C=) c.5327-20C= (n.5327-20C=) c.2030-20C= (n.2030-20C=) n.1351-20C= n.832-20C= c.5531-20C= (n.5531-20C=) c.1855-20C= c.2042-20C= (n.2042-20C=) c.*5251-20C= (n.*5251-20C=) c.2082-20C= (n.2082-20C=) c.398-20C= (n.398-20C=) c.941-20C= (n.941-20C=) c.167-20C= (n.167-20C=) n.5604-20C= n.5645-20C= | |
17 | g.43045822G>T | CA2499224346 | BRCA1 | c.5465-20C>A (n.5465-20C>A) c.5468-20C>A (n.5468-20C>A) c.5342-20C>A (n.5342-20C>A) c.5462-20C>A (n.5462-20C>A) c.5390-20C>A (n.5390-20C>A) c.2156-20C>A (n.2156-20C>A) c.2018-20C>A (n.2018-20C>A) c.4580-20C>A (n.4580-20C>A) c.5345-20C>A (n.5345-20C>A) c.5534-20C>A (n.5534-20C>A) c.5327-20C>A (n.5327-20C>A) c.2030-20C>A (n.2030-20C>A) n.1351-20C>A n.832-20C>A c.5531-20C>A (n.5531-20C>A) c.1855-20C>A c.2042-20C>A (n.2042-20C>A) c.*5251-20C>A (n.*5251-20C>A) c.2082-20C>A (n.2082-20C>A) c.398-20C>A (n.398-20C>A) c.941-20C>A (n.941-20C>A) c.167-20C>A (n.167-20C>A) n.5604-20C>A n.5645-20C>A | ClinVar dbSNP |
17 | g.43045823C>A | CA2733916941 | BRCA1 | c.5465-21G>T (n.5465-21G>T) c.5468-21G>T (n.5468-21G>T) c.5342-21G>T (n.5342-21G>T) c.5462-21G>T (n.5462-21G>T) c.5390-21G>T (n.5390-21G>T) c.2156-21G>T (n.2156-21G>T) c.2018-21G>T (n.2018-21G>T) c.4580-21G>T (n.4580-21G>T) c.5345-21G>T (n.5345-21G>T) c.5534-21G>T (n.5534-21G>T) c.5327-21G>T (n.5327-21G>T) c.2030-21G>T (n.2030-21G>T) n.1351-21G>T n.832-21G>T c.5531-21G>T (n.5531-21G>T) c.1855-21G>T c.2042-21G>T (n.2042-21G>T) c.*5251-21G>T (n.*5251-21G>T) c.2082-21G>T (n.2082-21G>T) c.398-21G>T (n.398-21G>T) c.941-21G>T (n.941-21G>T) c.167-21G>T (n.167-21G>T) n.5604-21G>T n.5645-21G>T | dbSNP |
17 | g.43045823C>T | CA2733916950 | BRCA1 | c.5465-21G>A (n.5465-21G>A) c.5468-21G>A (n.5468-21G>A) c.5342-21G>A (n.5342-21G>A) c.5462-21G>A (n.5462-21G>A) c.5390-21G>A (n.5390-21G>A) c.2156-21G>A (n.2156-21G>A) c.2018-21G>A (n.2018-21G>A) c.4580-21G>A (n.4580-21G>A) c.5345-21G>A (n.5345-21G>A) c.5534-21G>A (n.5534-21G>A) c.5327-21G>A (n.5327-21G>A) c.2030-21G>A (n.2030-21G>A) n.1351-21G>A n.832-21G>A c.5531-21G>A (n.5531-21G>A) c.1855-21G>A c.2042-21G>A (n.2042-21G>A) c.*5251-21G>A (n.*5251-21G>A) c.2082-21G>A (n.2082-21G>A) c.398-21G>A (n.398-21G>A) c.941-21G>A (n.941-21G>A) c.167-21G>A (n.167-21G>A) n.5604-21G>A n.5645-21G>A | dbSNP |
17 | g.43045824A>T | CA2733916978 | BRCA1 | c.5465-22T>A (n.5465-22T>A) c.5468-22T>A (n.5468-22T>A) c.5342-22T>A (n.5342-22T>A) c.5462-22T>A (n.5462-22T>A) c.5390-22T>A (n.5390-22T>A) c.2156-22T>A (n.2156-22T>A) c.2018-22T>A (n.2018-22T>A) c.4580-22T>A (n.4580-22T>A) c.5345-22T>A (n.5345-22T>A) c.5534-22T>A (n.5534-22T>A) c.5327-22T>A (n.5327-22T>A) c.2030-22T>A (n.2030-22T>A) n.1351-22T>A n.832-22T>A c.5531-22T>A (n.5531-22T>A) c.1855-22T>A c.2042-22T>A (n.2042-22T>A) c.*5251-22T>A (n.*5251-22T>A) c.2082-22T>A (n.2082-22T>A) c.398-22T>A (n.398-22T>A) c.941-22T>A (n.941-22T>A) c.167-22T>A (n.167-22T>A) n.5604-22T>A n.5645-22T>A | dbSNP |
17 | g.43045825G>A | CA2733916983 | BRCA1 | c.5465-23C>T (n.5465-23C>T) c.5468-23C>T (n.5468-23C>T) c.5342-23C>T (n.5342-23C>T) c.5462-23C>T (n.5462-23C>T) c.5390-23C>T (n.5390-23C>T) c.2156-23C>T (n.2156-23C>T) c.2018-23C>T (n.2018-23C>T) c.4580-23C>T (n.4580-23C>T) c.5345-23C>T (n.5345-23C>T) c.5534-23C>T (n.5534-23C>T) c.5327-23C>T (n.5327-23C>T) c.2030-23C>T (n.2030-23C>T) n.1351-23C>T n.832-23C>T c.5531-23C>T (n.5531-23C>T) c.1855-23C>T c.2042-23C>T (n.2042-23C>T) c.*5251-23C>T (n.*5251-23C>T) c.2082-23C>T (n.2082-23C>T) c.398-23C>T (n.398-23C>T) c.941-23C>T (n.941-23C>T) c.167-23C>T (n.167-23C>T) n.5604-23C>T n.5645-23C>T | dbSNP |
17 | g.43045825G>C | CA2733917058 | BRCA1 | c.5465-23C>G (n.5465-23C>G) c.5468-23C>G (n.5468-23C>G) c.5342-23C>G (n.5342-23C>G) c.5462-23C>G (n.5462-23C>G) c.5390-23C>G (n.5390-23C>G) c.2156-23C>G (n.2156-23C>G) c.2018-23C>G (n.2018-23C>G) c.4580-23C>G (n.4580-23C>G) c.5345-23C>G (n.5345-23C>G) c.5534-23C>G (n.5534-23C>G) c.5327-23C>G (n.5327-23C>G) c.2030-23C>G (n.2030-23C>G) n.1351-23C>G n.832-23C>G c.5531-23C>G (n.5531-23C>G) c.1855-23C>G c.2042-23C>G (n.2042-23C>G) c.*5251-23C>G (n.*5251-23C>G) c.2082-23C>G (n.2082-23C>G) c.398-23C>G (n.398-23C>G) c.941-23C>G (n.941-23C>G) c.167-23C>G (n.167-23C>G) n.5604-23C>G n.5645-23C>G | dbSNP |
17 | g.43045826A>T | CA2733917082 | BRCA1 | c.5465-24T>A (n.5465-24T>A) c.5468-24T>A (n.5468-24T>A) c.5342-24T>A (n.5342-24T>A) c.5462-24T>A (n.5462-24T>A) c.5390-24T>A (n.5390-24T>A) c.2156-24T>A (n.2156-24T>A) c.2018-24T>A (n.2018-24T>A) c.4580-24T>A (n.4580-24T>A) c.5345-24T>A (n.5345-24T>A) c.5534-24T>A (n.5534-24T>A) c.5327-24T>A (n.5327-24T>A) c.2030-24T>A (n.2030-24T>A) n.1351-24T>A n.832-24T>A c.5531-24T>A (n.5531-24T>A) c.1855-24T>A c.2042-24T>A (n.2042-24T>A) c.*5251-24T>A (n.*5251-24T>A) c.2082-24T>A (n.2082-24T>A) c.398-24T>A (n.398-24T>A) c.941-24T>A (n.941-24T>A) c.167-24T>A (n.167-24T>A) n.5604-24T>A n.5645-24T>A | dbSNP |
17 | g.43045827G>A | CA290815592 | BRCA1 | c.5465-25C>T (n.5465-25C>T) c.5468-25C>T (n.5468-25C>T) c.5342-25C>T (n.5342-25C>T) c.5462-25C>T (n.5462-25C>T) c.5390-25C>T (n.5390-25C>T) c.2156-25C>T (n.2156-25C>T) c.2018-25C>T (n.2018-25C>T) c.4580-25C>T (n.4580-25C>T) c.5345-25C>T (n.5345-25C>T) c.5534-25C>T (n.5534-25C>T) c.5327-25C>T (n.5327-25C>T) c.2030-25C>T (n.2030-25C>T) n.1351-25C>T n.832-25C>T c.5531-25C>T (n.5531-25C>T) c.1855-25C>T c.2042-25C>T (n.2042-25C>T) c.*5251-25C>T (n.*5251-25C>T) c.2082-25C>T (n.2082-25C>T) c.398-25C>T (n.398-25C>T) c.941-25C>T (n.941-25C>T) c.167-25C>T (n.167-25C>T) n.5604-25C>T n.5645-25C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43045827G>C | CA2576121536 | BRCA1 | c.5465-25C>G (n.5465-25C>G) c.5468-25C>G (n.5468-25C>G) c.5342-25C>G (n.5342-25C>G) c.5462-25C>G (n.5462-25C>G) c.5390-25C>G (n.5390-25C>G) c.2156-25C>G (n.2156-25C>G) c.2018-25C>G (n.2018-25C>G) c.4580-25C>G (n.4580-25C>G) c.5345-25C>G (n.5345-25C>G) c.5534-25C>G (n.5534-25C>G) c.5327-25C>G (n.5327-25C>G) c.2030-25C>G (n.2030-25C>G) n.1351-25C>G n.832-25C>G c.5531-25C>G (n.5531-25C>G) c.1855-25C>G c.2042-25C>G (n.2042-25C>G) c.*5251-25C>G (n.*5251-25C>G) c.2082-25C>G (n.2082-25C>G) c.398-25C>G (n.398-25C>G) c.941-25C>G (n.941-25C>G) c.167-25C>G (n.167-25C>G) n.5604-25C>G n.5645-25C>G | dbSNP |
17 | g.43045827G= | CA2260761184 | BRCA1 | c.5465-25C= (n.5465-25C=) c.5468-25C= (n.5468-25C=) c.5342-25C= (n.5342-25C=) c.5462-25C= (n.5462-25C=) c.5390-25C= (n.5390-25C=) c.2156-25C= (n.2156-25C=) c.2018-25C= (n.2018-25C=) c.4580-25C= (n.4580-25C=) c.5345-25C= (n.5345-25C=) c.5534-25C= (n.5534-25C=) c.5327-25C= (n.5327-25C=) c.2030-25C= (n.2030-25C=) n.1351-25C= n.832-25C= c.5531-25C= (n.5531-25C=) c.1855-25C= c.2042-25C= (n.2042-25C=) c.*5251-25C= (n.*5251-25C=) c.2082-25C= (n.2082-25C=) c.398-25C= (n.398-25C=) c.941-25C= (n.941-25C=) c.167-25C= (n.167-25C=) n.5604-25C= n.5645-25C= | |
17 | g.43045827G>T | CA2638036272 | BRCA1 | c.5465-25C>A (n.5465-25C>A) c.5468-25C>A (n.5468-25C>A) c.5342-25C>A (n.5342-25C>A) c.5462-25C>A (n.5462-25C>A) c.5390-25C>A (n.5390-25C>A) c.2156-25C>A (n.2156-25C>A) c.2018-25C>A (n.2018-25C>A) c.4580-25C>A (n.4580-25C>A) c.5345-25C>A (n.5345-25C>A) c.5534-25C>A (n.5534-25C>A) c.5327-25C>A (n.5327-25C>A) c.2030-25C>A (n.2030-25C>A) n.1351-25C>A n.832-25C>A c.5531-25C>A (n.5531-25C>A) c.1855-25C>A c.2042-25C>A (n.2042-25C>A) c.*5251-25C>A (n.*5251-25C>A) c.2082-25C>A (n.2082-25C>A) c.398-25C>A (n.398-25C>A) c.941-25C>A (n.941-25C>A) c.167-25C>A (n.167-25C>A) n.5604-25C>A n.5645-25C>A | gnomAD v4 |
17 | g.43045828A= | CA2260761185 | BRCA1 | c.5465-26T= (n.5465-26T=) c.5468-26T= (n.5468-26T=) c.5342-26T= (n.5342-26T=) c.5462-26T= (n.5462-26T=) c.5390-26T= (n.5390-26T=) c.2156-26T= (n.2156-26T=) c.2018-26T= (n.2018-26T=) c.4580-26T= (n.4580-26T=) c.5345-26T= (n.5345-26T=) c.5534-26T= (n.5534-26T=) c.5327-26T= (n.5327-26T=) c.2030-26T= (n.2030-26T=) n.1351-26T= n.832-26T= c.5531-26T= (n.5531-26T=) c.1855-26T= c.2042-26T= (n.2042-26T=) c.*5251-26T= (n.*5251-26T=) c.2082-26T= (n.2082-26T=) c.398-26T= (n.398-26T=) c.941-26T= (n.941-26T=) c.167-26T= (n.167-26T=) n.5604-26T= n.5645-26T= | |
17 | g.43045828A>G | CA290815596 | BRCA1 | c.5465-26T>C (n.5465-26T>C) c.5468-26T>C (n.5468-26T>C) c.5342-26T>C (n.5342-26T>C) c.5462-26T>C (n.5462-26T>C) c.5390-26T>C (n.5390-26T>C) c.2156-26T>C (n.2156-26T>C) c.2018-26T>C (n.2018-26T>C) c.4580-26T>C (n.4580-26T>C) c.5345-26T>C (n.5345-26T>C) c.5534-26T>C (n.5534-26T>C) c.5327-26T>C (n.5327-26T>C) c.2030-26T>C (n.2030-26T>C) n.1351-26T>C n.832-26T>C c.5531-26T>C (n.5531-26T>C) c.1855-26T>C c.2042-26T>C (n.2042-26T>C) c.*5251-26T>C (n.*5251-26T>C) c.2082-26T>C (n.2082-26T>C) c.398-26T>C (n.398-26T>C) c.941-26T>C (n.941-26T>C) c.167-26T>C (n.167-26T>C) n.5604-26T>C n.5645-26T>C | dbSNP |
17 | g.43045829T>A | CA2733917089 | BRCA1 | c.5465-27A>T (n.5465-27A>T) c.5468-27A>T (n.5468-27A>T) c.5342-27A>T (n.5342-27A>T) c.5462-27A>T (n.5462-27A>T) c.5390-27A>T (n.5390-27A>T) c.2156-27A>T (n.2156-27A>T) c.2018-27A>T (n.2018-27A>T) c.4580-27A>T (n.4580-27A>T) c.5345-27A>T (n.5345-27A>T) c.5534-27A>T (n.5534-27A>T) c.5327-27A>T (n.5327-27A>T) c.2030-27A>T (n.2030-27A>T) n.1351-27A>T n.832-27A>T c.5531-27A>T (n.5531-27A>T) c.1855-27A>T c.2042-27A>T (n.2042-27A>T) c.*5251-27A>T (n.*5251-27A>T) c.2082-27A>T (n.2082-27A>T) c.398-27A>T (n.398-27A>T) c.941-27A>T (n.941-27A>T) c.167-27A>T (n.167-27A>T) n.5604-27A>T n.5645-27A>T | dbSNP |
17 | g.43045829T>C | CA2638036273 | BRCA1 | c.5465-27A>G (n.5465-27A>G) c.5468-27A>G (n.5468-27A>G) c.5342-27A>G (n.5342-27A>G) c.5462-27A>G (n.5462-27A>G) c.5390-27A>G (n.5390-27A>G) c.2156-27A>G (n.2156-27A>G) c.2018-27A>G (n.2018-27A>G) c.4580-27A>G (n.4580-27A>G) c.5345-27A>G (n.5345-27A>G) c.5534-27A>G (n.5534-27A>G) c.5327-27A>G (n.5327-27A>G) c.2030-27A>G (n.2030-27A>G) n.1351-27A>G n.832-27A>G c.5531-27A>G (n.5531-27A>G) c.1855-27A>G c.2042-27A>G (n.2042-27A>G) c.*5251-27A>G (n.*5251-27A>G) c.2082-27A>G (n.2082-27A>G) c.398-27A>G (n.398-27A>G) c.941-27A>G (n.941-27A>G) c.167-27A>G (n.167-27A>G) n.5604-27A>G n.5645-27A>G | dbSNP gnomAD v4 |
17 | g.43045829T>G | CA2733917094 | BRCA1 | c.5465-27A>C (n.5465-27A>C) c.5468-27A>C (n.5468-27A>C) c.5342-27A>C (n.5342-27A>C) c.5462-27A>C (n.5462-27A>C) c.5390-27A>C (n.5390-27A>C) c.2156-27A>C (n.2156-27A>C) c.2018-27A>C (n.2018-27A>C) c.4580-27A>C (n.4580-27A>C) c.5345-27A>C (n.5345-27A>C) c.5534-27A>C (n.5534-27A>C) c.5327-27A>C (n.5327-27A>C) c.2030-27A>C (n.2030-27A>C) n.1351-27A>C n.832-27A>C c.5531-27A>C (n.5531-27A>C) c.1855-27A>C c.2042-27A>C (n.2042-27A>C) c.*5251-27A>C (n.*5251-27A>C) c.2082-27A>C (n.2082-27A>C) c.398-27A>C (n.398-27A>C) c.941-27A>C (n.941-27A>C) c.167-27A>C (n.167-27A>C) n.5604-27A>C n.5645-27A>C | dbSNP |
17 | g.43045830T>A | CA772164447 | BRCA1 | c.5465-28A>T (n.5465-28A>T) c.5468-28A>T (n.5468-28A>T) c.5342-28A>T (n.5342-28A>T) c.5462-28A>T (n.5462-28A>T) c.5390-28A>T (n.5390-28A>T) c.2156-28A>T (n.2156-28A>T) c.2018-28A>T (n.2018-28A>T) c.4580-28A>T (n.4580-28A>T) c.5345-28A>T (n.5345-28A>T) c.5534-28A>T (n.5534-28A>T) c.5327-28A>T (n.5327-28A>T) c.2030-28A>T (n.2030-28A>T) n.1351-28A>T n.832-28A>T c.5531-28A>T (n.5531-28A>T) c.1855-28A>T c.2042-28A>T (n.2042-28A>T) c.*5251-28A>T (n.*5251-28A>T) c.2082-28A>T (n.2082-28A>T) c.398-28A>T (n.398-28A>T) c.941-28A>T (n.941-28A>T) c.167-28A>T (n.167-28A>T) n.5604-28A>T n.5645-28A>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43045830T>C | CA2733666627 | BRCA1 | c.5465-28A>G (n.5465-28A>G) c.5468-28A>G (n.5468-28A>G) c.5342-28A>G (n.5342-28A>G) c.5462-28A>G (n.5462-28A>G) c.5390-28A>G (n.5390-28A>G) c.2156-28A>G (n.2156-28A>G) c.2018-28A>G (n.2018-28A>G) c.4580-28A>G (n.4580-28A>G) c.5345-28A>G (n.5345-28A>G) c.5534-28A>G (n.5534-28A>G) c.5327-28A>G (n.5327-28A>G) c.2030-28A>G (n.2030-28A>G) n.1351-28A>G n.832-28A>G c.5531-28A>G (n.5531-28A>G) c.1855-28A>G c.2042-28A>G (n.2042-28A>G) c.*5251-28A>G (n.*5251-28A>G) c.2082-28A>G (n.2082-28A>G) c.398-28A>G (n.398-28A>G) c.941-28A>G (n.941-28A>G) c.167-28A>G (n.167-28A>G) n.5604-28A>G n.5645-28A>G | dbSNP |
17 | g.43045830T>G | CA626075715 | BRCA1 | c.5465-28A>C (n.5465-28A>C) c.5468-28A>C (n.5468-28A>C) c.5342-28A>C (n.5342-28A>C) c.5462-28A>C (n.5462-28A>C) c.5390-28A>C (n.5390-28A>C) c.2156-28A>C (n.2156-28A>C) c.2018-28A>C (n.2018-28A>C) c.4580-28A>C (n.4580-28A>C) c.5345-28A>C (n.5345-28A>C) c.5534-28A>C (n.5534-28A>C) c.5327-28A>C (n.5327-28A>C) c.2030-28A>C (n.2030-28A>C) n.1351-28A>C n.832-28A>C c.5531-28A>C (n.5531-28A>C) c.1855-28A>C c.2042-28A>C (n.2042-28A>C) c.*5251-28A>C (n.*5251-28A>C) c.2082-28A>C (n.2082-28A>C) c.398-28A>C (n.398-28A>C) c.941-28A>C (n.941-28A>C) c.167-28A>C (n.167-28A>C) n.5604-28A>C n.5645-28A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43045830T= | CA2260761186 | BRCA1 | c.5465-28A= (n.5465-28A=) c.5468-28A= (n.5468-28A=) c.5342-28A= (n.5342-28A=) c.5462-28A= (n.5462-28A=) c.5390-28A= (n.5390-28A=) c.2156-28A= (n.2156-28A=) c.2018-28A= (n.2018-28A=) c.4580-28A= (n.4580-28A=) c.5345-28A= (n.5345-28A=) c.5534-28A= (n.5534-28A=) c.5327-28A= (n.5327-28A=) c.2030-28A= (n.2030-28A=) n.1351-28A= n.832-28A= c.5531-28A= (n.5531-28A=) c.1855-28A= c.2042-28A= (n.2042-28A=) c.*5251-28A= (n.*5251-28A=) c.2082-28A= (n.2082-28A=) c.398-28A= (n.398-28A=) c.941-28A= (n.941-28A=) c.167-28A= (n.167-28A=) n.5604-28A= n.5645-28A= | |
17 | g.43045831A>G | CA2638036274 | BRCA1 | c.5465-29T>C (n.5465-29T>C) c.5468-29T>C (n.5468-29T>C) c.5342-29T>C (n.5342-29T>C) c.5462-29T>C (n.5462-29T>C) c.5390-29T>C (n.5390-29T>C) c.2156-29T>C (n.2156-29T>C) c.2018-29T>C (n.2018-29T>C) c.4580-29T>C (n.4580-29T>C) c.5345-29T>C (n.5345-29T>C) c.5534-29T>C (n.5534-29T>C) c.5327-29T>C (n.5327-29T>C) c.2030-29T>C (n.2030-29T>C) n.1351-29T>C n.832-29T>C c.5531-29T>C (n.5531-29T>C) c.1855-29T>C c.2042-29T>C (n.2042-29T>C) c.*5251-29T>C (n.*5251-29T>C) c.2082-29T>C (n.2082-29T>C) c.398-29T>C (n.398-29T>C) c.941-29T>C (n.941-29T>C) c.167-29T>C (n.167-29T>C) n.5604-29T>C n.5645-29T>C | dbSNP gnomAD v4 |
17 | g.43045831A>T | CA2638036275 | BRCA1 | c.5465-29T>A (n.5465-29T>A) c.5468-29T>A (n.5468-29T>A) c.5342-29T>A (n.5342-29T>A) c.5462-29T>A (n.5462-29T>A) c.5390-29T>A (n.5390-29T>A) c.2156-29T>A (n.2156-29T>A) c.2018-29T>A (n.2018-29T>A) c.4580-29T>A (n.4580-29T>A) c.5345-29T>A (n.5345-29T>A) c.5534-29T>A (n.5534-29T>A) c.5327-29T>A (n.5327-29T>A) c.2030-29T>A (n.2030-29T>A) n.1351-29T>A n.832-29T>A c.5531-29T>A (n.5531-29T>A) c.1855-29T>A c.2042-29T>A (n.2042-29T>A) c.*5251-29T>A (n.*5251-29T>A) c.2082-29T>A (n.2082-29T>A) c.398-29T>A (n.398-29T>A) c.941-29T>A (n.941-29T>A) c.167-29T>A (n.167-29T>A) n.5604-29T>A n.5645-29T>A | dbSNP gnomAD v4 |
17 | g.43045832G>A | CA2733646682 | BRCA1 | c.5465-30C>T (n.5465-30C>T) c.5468-30C>T (n.5468-30C>T) c.5342-30C>T (n.5342-30C>T) c.5462-30C>T (n.5462-30C>T) c.5390-30C>T (n.5390-30C>T) c.2156-30C>T (n.2156-30C>T) c.2018-30C>T (n.2018-30C>T) c.4580-30C>T (n.4580-30C>T) c.5345-30C>T (n.5345-30C>T) c.5534-30C>T (n.5534-30C>T) c.5327-30C>T (n.5327-30C>T) c.2030-30C>T (n.2030-30C>T) n.1351-30C>T n.832-30C>T c.5531-30C>T (n.5531-30C>T) c.1855-30C>T c.2042-30C>T (n.2042-30C>T) c.*5251-30C>T (n.*5251-30C>T) c.2082-30C>T (n.2082-30C>T) c.398-30C>T (n.398-30C>T) c.941-30C>T (n.941-30C>T) c.167-30C>T (n.167-30C>T) n.5604-30C>T n.5645-30C>T | dbSNP |
17 | g.43045832G>C | CA055121 | BRCA1 | c.5465-30C>G (n.5465-30C>G) c.5468-30C>G (n.5468-30C>G) c.5342-30C>G (n.5342-30C>G) c.5462-30C>G (n.5462-30C>G) c.5390-30C>G (n.5390-30C>G) c.2156-30C>G (n.2156-30C>G) c.2018-30C>G (n.2018-30C>G) c.4580-30C>G (n.4580-30C>G) c.5345-30C>G (n.5345-30C>G) c.5534-30C>G (n.5534-30C>G) c.5327-30C>G (n.5327-30C>G) c.2030-30C>G (n.2030-30C>G) n.1351-30C>G n.832-30C>G c.5531-30C>G (n.5531-30C>G) c.1855-30C>G c.2042-30C>G (n.2042-30C>G) c.*5251-30C>G (n.*5251-30C>G) c.2082-30C>G (n.2082-30C>G) c.398-30C>G (n.398-30C>G) c.941-30C>G (n.941-30C>G) c.167-30C>G (n.167-30C>G) n.5604-30C>G n.5645-30C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43045832G= | CA2260761187 | BRCA1 | c.5465-30C= (n.5465-30C=) c.5468-30C= (n.5468-30C=) c.5342-30C= (n.5342-30C=) c.5462-30C= (n.5462-30C=) c.5390-30C= (n.5390-30C=) c.2156-30C= (n.2156-30C=) c.2018-30C= (n.2018-30C=) c.4580-30C= (n.4580-30C=) c.5345-30C= (n.5345-30C=) c.5534-30C= (n.5534-30C=) c.5327-30C= (n.5327-30C=) c.2030-30C= (n.2030-30C=) n.1351-30C= n.832-30C= c.5531-30C= (n.5531-30C=) c.1855-30C= c.2042-30C= (n.2042-30C=) c.*5251-30C= (n.*5251-30C=) c.2082-30C= (n.2082-30C=) c.398-30C= (n.398-30C=) c.941-30C= (n.941-30C=) c.167-30C= (n.167-30C=) n.5604-30C= n.5645-30C= | |
17 | g.43045833T>A | CA2733917107 | BRCA1 | c.5465-31A>T (n.5465-31A>T) c.5468-31A>T (n.5468-31A>T) c.5342-31A>T (n.5342-31A>T) c.5462-31A>T (n.5462-31A>T) c.5390-31A>T (n.5390-31A>T) c.2156-31A>T (n.2156-31A>T) c.2018-31A>T (n.2018-31A>T) c.4580-31A>T (n.4580-31A>T) c.5345-31A>T (n.5345-31A>T) c.5534-31A>T (n.5534-31A>T) c.5327-31A>T (n.5327-31A>T) c.2030-31A>T (n.2030-31A>T) n.1351-31A>T n.832-31A>T c.5531-31A>T (n.5531-31A>T) c.1855-31A>T c.2042-31A>T (n.2042-31A>T) c.*5251-31A>T (n.*5251-31A>T) c.2082-31A>T (n.2082-31A>T) c.398-31A>T (n.398-31A>T) c.941-31A>T (n.941-31A>T) c.167-31A>T (n.167-31A>T) n.5604-31A>T n.5645-31A>T | dbSNP |
17 | g.43045833T>C | CA2576121537 | BRCA1 | c.5465-31A>G (n.5465-31A>G) c.5468-31A>G (n.5468-31A>G) c.5342-31A>G (n.5342-31A>G) c.5462-31A>G (n.5462-31A>G) c.5390-31A>G (n.5390-31A>G) c.2156-31A>G (n.2156-31A>G) c.2018-31A>G (n.2018-31A>G) c.4580-31A>G (n.4580-31A>G) c.5345-31A>G (n.5345-31A>G) c.5534-31A>G (n.5534-31A>G) c.5327-31A>G (n.5327-31A>G) c.2030-31A>G (n.2030-31A>G) n.1351-31A>G n.832-31A>G c.5531-31A>G (n.5531-31A>G) c.1855-31A>G c.2042-31A>G (n.2042-31A>G) c.*5251-31A>G (n.*5251-31A>G) c.2082-31A>G (n.2082-31A>G) c.398-31A>G (n.398-31A>G) c.941-31A>G (n.941-31A>G) c.167-31A>G (n.167-31A>G) n.5604-31A>G n.5645-31A>G | dbSNP gnomAD v4 |
17 | g.43045834G>A | CA2733917110 | BRCA1 | c.5465-32C>T (n.5465-32C>T) c.5468-32C>T (n.5468-32C>T) c.5342-32C>T (n.5342-32C>T) c.5462-32C>T (n.5462-32C>T) c.5390-32C>T (n.5390-32C>T) c.2156-32C>T (n.2156-32C>T) c.2018-32C>T (n.2018-32C>T) c.4580-32C>T (n.4580-32C>T) c.5345-32C>T (n.5345-32C>T) c.5534-32C>T (n.5534-32C>T) c.5327-32C>T (n.5327-32C>T) c.2030-32C>T (n.2030-32C>T) n.1351-32C>T n.832-32C>T c.5531-32C>T (n.5531-32C>T) c.1855-32C>T c.2042-32C>T (n.2042-32C>T) c.*5251-32C>T (n.*5251-32C>T) c.2082-32C>T (n.2082-32C>T) c.398-32C>T (n.398-32C>T) c.941-32C>T (n.941-32C>T) c.167-32C>T (n.167-32C>T) n.5604-32C>T n.5645-32C>T | dbSNP |
17 | g.43045834G>C | CA2733917134 | BRCA1 | c.5465-32C>G (n.5465-32C>G) c.5468-32C>G (n.5468-32C>G) c.5342-32C>G (n.5342-32C>G) c.5462-32C>G (n.5462-32C>G) c.5390-32C>G (n.5390-32C>G) c.2156-32C>G (n.2156-32C>G) c.2018-32C>G (n.2018-32C>G) c.4580-32C>G (n.4580-32C>G) c.5345-32C>G (n.5345-32C>G) c.5534-32C>G (n.5534-32C>G) c.5327-32C>G (n.5327-32C>G) c.2030-32C>G (n.2030-32C>G) n.1351-32C>G n.832-32C>G c.5531-32C>G (n.5531-32C>G) c.1855-32C>G c.2042-32C>G (n.2042-32C>G) c.*5251-32C>G (n.*5251-32C>G) c.2082-32C>G (n.2082-32C>G) c.398-32C>G (n.398-32C>G) c.941-32C>G (n.941-32C>G) c.167-32C>G (n.167-32C>G) n.5604-32C>G n.5645-32C>G | dbSNP |
17 | g.43045834G>T | CA2733917138 | BRCA1 | c.5465-32C>A (n.5465-32C>A) c.5468-32C>A (n.5468-32C>A) c.5342-32C>A (n.5342-32C>A) c.5462-32C>A (n.5462-32C>A) c.5390-32C>A (n.5390-32C>A) c.2156-32C>A (n.2156-32C>A) c.2018-32C>A (n.2018-32C>A) c.4580-32C>A (n.4580-32C>A) c.5345-32C>A (n.5345-32C>A) c.5534-32C>A (n.5534-32C>A) c.5327-32C>A (n.5327-32C>A) c.2030-32C>A (n.2030-32C>A) n.1351-32C>A n.832-32C>A c.5531-32C>A (n.5531-32C>A) c.1855-32C>A c.2042-32C>A (n.2042-32C>A) c.*5251-32C>A (n.*5251-32C>A) c.2082-32C>A (n.2082-32C>A) c.398-32C>A (n.398-32C>A) c.941-32C>A (n.941-32C>A) c.167-32C>A (n.167-32C>A) n.5604-32C>A n.5645-32C>A | dbSNP |
17 | g.43045835T>A | CA2733917139 | BRCA1 | c.5465-33A>T (n.5465-33A>T) c.5468-33A>T (n.5468-33A>T) c.5342-33A>T (n.5342-33A>T) c.5462-33A>T (n.5462-33A>T) c.5390-33A>T (n.5390-33A>T) c.2156-33A>T (n.2156-33A>T) c.2018-33A>T (n.2018-33A>T) c.4580-33A>T (n.4580-33A>T) c.5345-33A>T (n.5345-33A>T) c.5534-33A>T (n.5534-33A>T) c.5327-33A>T (n.5327-33A>T) c.2030-33A>T (n.2030-33A>T) n.1351-33A>T n.832-33A>T c.5531-33A>T (n.5531-33A>T) c.1855-33A>T c.2042-33A>T (n.2042-33A>T) c.*5251-33A>T (n.*5251-33A>T) c.2082-33A>T (n.2082-33A>T) c.398-33A>T (n.398-33A>T) c.941-33A>T (n.941-33A>T) c.167-33A>T (n.167-33A>T) n.5604-33A>T n.5645-33A>T | dbSNP |
17 | g.43045835T>C | CA2733917141 | BRCA1 | c.5465-33A>G (n.5465-33A>G) c.5468-33A>G (n.5468-33A>G) c.5342-33A>G (n.5342-33A>G) c.5462-33A>G (n.5462-33A>G) c.5390-33A>G (n.5390-33A>G) c.2156-33A>G (n.2156-33A>G) c.2018-33A>G (n.2018-33A>G) c.4580-33A>G (n.4580-33A>G) c.5345-33A>G (n.5345-33A>G) c.5534-33A>G (n.5534-33A>G) c.5327-33A>G (n.5327-33A>G) c.2030-33A>G (n.2030-33A>G) n.1351-33A>G n.832-33A>G c.5531-33A>G (n.5531-33A>G) c.1855-33A>G c.2042-33A>G (n.2042-33A>G) c.*5251-33A>G (n.*5251-33A>G) c.2082-33A>G (n.2082-33A>G) c.398-33A>G (n.398-33A>G) c.941-33A>G (n.941-33A>G) c.167-33A>G (n.167-33A>G) n.5604-33A>G n.5645-33A>G | dbSNP |
17 | g.43045835T>G | CA2733917149 | BRCA1 | c.5465-33A>C (n.5465-33A>C) c.5468-33A>C (n.5468-33A>C) c.5342-33A>C (n.5342-33A>C) c.5462-33A>C (n.5462-33A>C) c.5390-33A>C (n.5390-33A>C) c.2156-33A>C (n.2156-33A>C) c.2018-33A>C (n.2018-33A>C) c.4580-33A>C (n.4580-33A>C) c.5345-33A>C (n.5345-33A>C) c.5534-33A>C (n.5534-33A>C) c.5327-33A>C (n.5327-33A>C) c.2030-33A>C (n.2030-33A>C) n.1351-33A>C n.832-33A>C c.5531-33A>C (n.5531-33A>C) c.1855-33A>C c.2042-33A>C (n.2042-33A>C) c.*5251-33A>C (n.*5251-33A>C) c.2082-33A>C (n.2082-33A>C) c.398-33A>C (n.398-33A>C) c.941-33A>C (n.941-33A>C) c.167-33A>C (n.167-33A>C) n.5604-33A>C n.5645-33A>C | dbSNP |
17 | g.43045836C>A | CA2638036276 | BRCA1 | c.5465-34G>T (n.5465-34G>T) c.5468-34G>T (n.5468-34G>T) c.5342-34G>T (n.5342-34G>T) c.5462-34G>T (n.5462-34G>T) c.5390-34G>T (n.5390-34G>T) c.2156-34G>T (n.2156-34G>T) c.2018-34G>T (n.2018-34G>T) c.4580-34G>T (n.4580-34G>T) c.5345-34G>T (n.5345-34G>T) c.5534-34G>T (n.5534-34G>T) c.5327-34G>T (n.5327-34G>T) c.2030-34G>T (n.2030-34G>T) n.1351-34G>T n.832-34G>T c.5531-34G>T (n.5531-34G>T) c.1855-34G>T c.2042-34G>T (n.2042-34G>T) c.*5251-34G>T (n.*5251-34G>T) c.2082-34G>T (n.2082-34G>T) c.398-34G>T (n.398-34G>T) c.941-34G>T (n.941-34G>T) c.167-34G>T (n.167-34G>T) n.5604-34G>T n.5645-34G>T | dbSNP gnomAD v4 |
17 | g.43045836C= | CA2260761188 | BRCA1 | c.5465-34G= (n.5465-34G=) c.5468-34G= (n.5468-34G=) c.5342-34G= (n.5342-34G=) c.5462-34G= (n.5462-34G=) c.5390-34G= (n.5390-34G=) c.2156-34G= (n.2156-34G=) c.2018-34G= (n.2018-34G=) c.4580-34G= (n.4580-34G=) c.5345-34G= (n.5345-34G=) c.5534-34G= (n.5534-34G=) c.5327-34G= (n.5327-34G=) c.2030-34G= (n.2030-34G=) n.1351-34G= n.832-34G= c.5531-34G= (n.5531-34G=) c.1855-34G= c.2042-34G= (n.2042-34G=) c.*5251-34G= (n.*5251-34G=) c.2082-34G= (n.2082-34G=) c.398-34G= (n.398-34G=) c.941-34G= (n.941-34G=) c.167-34G= (n.167-34G=) n.5604-34G= n.5645-34G= | |
17 | g.43045836C>G | CA2733668583 | BRCA1 | c.5465-34G>C (n.5465-34G>C) c.5468-34G>C (n.5468-34G>C) c.5342-34G>C (n.5342-34G>C) c.5462-34G>C (n.5462-34G>C) c.5390-34G>C (n.5390-34G>C) c.2156-34G>C (n.2156-34G>C) c.2018-34G>C (n.2018-34G>C) c.4580-34G>C (n.4580-34G>C) c.5345-34G>C (n.5345-34G>C) c.5534-34G>C (n.5534-34G>C) c.5327-34G>C (n.5327-34G>C) c.2030-34G>C (n.2030-34G>C) n.1351-34G>C n.832-34G>C c.5531-34G>C (n.5531-34G>C) c.1855-34G>C c.2042-34G>C (n.2042-34G>C) c.*5251-34G>C (n.*5251-34G>C) c.2082-34G>C (n.2082-34G>C) c.398-34G>C (n.398-34G>C) c.941-34G>C (n.941-34G>C) c.167-34G>C (n.167-34G>C) n.5604-34G>C n.5645-34G>C | dbSNP |
17 | g.43045836C>T | CA626075716 | BRCA1 | c.5465-34G>A (n.5465-34G>A) c.5468-34G>A (n.5468-34G>A) c.5342-34G>A (n.5342-34G>A) c.5462-34G>A (n.5462-34G>A) c.5390-34G>A (n.5390-34G>A) c.2156-34G>A (n.2156-34G>A) c.2018-34G>A (n.2018-34G>A) c.4580-34G>A (n.4580-34G>A) c.5345-34G>A (n.5345-34G>A) c.5534-34G>A (n.5534-34G>A) c.5327-34G>A (n.5327-34G>A) c.2030-34G>A (n.2030-34G>A) n.1351-34G>A n.832-34G>A c.5531-34G>A (n.5531-34G>A) c.1855-34G>A c.2042-34G>A (n.2042-34G>A) c.*5251-34G>A (n.*5251-34G>A) c.2082-34G>A (n.2082-34G>A) c.398-34G>A (n.398-34G>A) c.941-34G>A (n.941-34G>A) c.167-34G>A (n.167-34G>A) n.5604-34G>A n.5645-34G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43045837A>C | CA2733917165 | BRCA1 | c.5465-35T>G (n.5465-35T>G) c.5468-35T>G (n.5468-35T>G) c.5342-35T>G (n.5342-35T>G) c.5462-35T>G (n.5462-35T>G) c.5390-35T>G (n.5390-35T>G) c.2156-35T>G (n.2156-35T>G) c.2018-35T>G (n.2018-35T>G) c.4580-35T>G (n.4580-35T>G) c.5345-35T>G (n.5345-35T>G) c.5534-35T>G (n.5534-35T>G) c.5327-35T>G (n.5327-35T>G) c.2030-35T>G (n.2030-35T>G) n.1351-35T>G n.832-35T>G c.5531-35T>G (n.5531-35T>G) c.1855-35T>G c.2042-35T>G (n.2042-35T>G) c.*5251-35T>G (n.*5251-35T>G) c.2082-35T>G (n.2082-35T>G) c.398-35T>G (n.398-35T>G) c.941-35T>G (n.941-35T>G) c.167-35T>G (n.167-35T>G) n.5604-35T>G n.5645-35T>G | dbSNP |
17 | g.43045837A>T | CA2733917196 | BRCA1 | c.5465-35T>A (n.5465-35T>A) c.5468-35T>A (n.5468-35T>A) c.5342-35T>A (n.5342-35T>A) c.5462-35T>A (n.5462-35T>A) c.5390-35T>A (n.5390-35T>A) c.2156-35T>A (n.2156-35T>A) c.2018-35T>A (n.2018-35T>A) c.4580-35T>A (n.4580-35T>A) c.5345-35T>A (n.5345-35T>A) c.5534-35T>A (n.5534-35T>A) c.5327-35T>A (n.5327-35T>A) c.2030-35T>A (n.2030-35T>A) n.1351-35T>A n.832-35T>A c.5531-35T>A (n.5531-35T>A) c.1855-35T>A c.2042-35T>A (n.2042-35T>A) c.*5251-35T>A (n.*5251-35T>A) c.2082-35T>A (n.2082-35T>A) c.398-35T>A (n.398-35T>A) c.941-35T>A (n.941-35T>A) c.167-35T>A (n.167-35T>A) n.5604-35T>A n.5645-35T>A | dbSNP |
17 | g.43045838A>C | CA2733917215 | BRCA1 | c.5465-36T>G (n.5465-36T>G) c.5468-36T>G (n.5468-36T>G) c.5342-36T>G (n.5342-36T>G) c.5462-36T>G (n.5462-36T>G) c.5390-36T>G (n.5390-36T>G) c.2156-36T>G (n.2156-36T>G) c.2018-36T>G (n.2018-36T>G) c.4580-36T>G (n.4580-36T>G) c.5345-36T>G (n.5345-36T>G) c.5534-36T>G (n.5534-36T>G) c.5327-36T>G (n.5327-36T>G) c.2030-36T>G (n.2030-36T>G) n.1351-36T>G n.832-36T>G c.5531-36T>G (n.5531-36T>G) c.1855-36T>G c.2042-36T>G (n.2042-36T>G) c.*5251-36T>G (n.*5251-36T>G) c.2082-36T>G (n.2082-36T>G) c.398-36T>G (n.398-36T>G) c.941-36T>G (n.941-36T>G) c.167-36T>G (n.167-36T>G) n.5604-36T>G n.5645-36T>G | dbSNP |
17 | g.43045838A>T | CA2733917547 | BRCA1 | c.5465-36T>A (n.5465-36T>A) c.5468-36T>A (n.5468-36T>A) c.5342-36T>A (n.5342-36T>A) c.5462-36T>A (n.5462-36T>A) c.5390-36T>A (n.5390-36T>A) c.2156-36T>A (n.2156-36T>A) c.2018-36T>A (n.2018-36T>A) c.4580-36T>A (n.4580-36T>A) c.5345-36T>A (n.5345-36T>A) c.5534-36T>A (n.5534-36T>A) c.5327-36T>A (n.5327-36T>A) c.2030-36T>A (n.2030-36T>A) n.1351-36T>A n.832-36T>A c.5531-36T>A (n.5531-36T>A) c.1855-36T>A c.2042-36T>A (n.2042-36T>A) c.*5251-36T>A (n.*5251-36T>A) c.2082-36T>A (n.2082-36T>A) c.398-36T>A (n.398-36T>A) c.941-36T>A (n.941-36T>A) c.167-36T>A (n.167-36T>A) n.5604-36T>A n.5645-36T>A | dbSNP |
17 | g.43045839T>A | CA2733917570 | BRCA1 | c.5465-37A>T (n.5465-37A>T) c.5468-37A>T (n.5468-37A>T) c.5342-37A>T (n.5342-37A>T) c.5462-37A>T (n.5462-37A>T) c.5390-37A>T (n.5390-37A>T) c.2156-37A>T (n.2156-37A>T) c.2018-37A>T (n.2018-37A>T) c.4580-37A>T (n.4580-37A>T) c.5345-37A>T (n.5345-37A>T) c.5534-37A>T (n.5534-37A>T) c.5327-37A>T (n.5327-37A>T) c.2030-37A>T (n.2030-37A>T) n.1351-37A>T n.832-37A>T c.5531-37A>T (n.5531-37A>T) c.1855-37A>T c.2042-37A>T (n.2042-37A>T) c.*5251-37A>T (n.*5251-37A>T) c.2082-37A>T (n.2082-37A>T) c.398-37A>T (n.398-37A>T) c.941-37A>T (n.941-37A>T) c.167-37A>T (n.167-37A>T) n.5604-37A>T n.5645-37A>T | dbSNP |
17 | g.43045839T>G | CA2733917553 | BRCA1 | c.5465-37A>C (n.5465-37A>C) c.5468-37A>C (n.5468-37A>C) c.5342-37A>C (n.5342-37A>C) c.5462-37A>C (n.5462-37A>C) c.5390-37A>C (n.5390-37A>C) c.2156-37A>C (n.2156-37A>C) c.2018-37A>C (n.2018-37A>C) c.4580-37A>C (n.4580-37A>C) c.5345-37A>C (n.5345-37A>C) c.5534-37A>C (n.5534-37A>C) c.5327-37A>C (n.5327-37A>C) c.2030-37A>C (n.2030-37A>C) n.1351-37A>C n.832-37A>C c.5531-37A>C (n.5531-37A>C) c.1855-37A>C c.2042-37A>C (n.2042-37A>C) c.*5251-37A>C (n.*5251-37A>C) c.2082-37A>C (n.2082-37A>C) c.398-37A>C (n.398-37A>C) c.941-37A>C (n.941-37A>C) c.167-37A>C (n.167-37A>C) n.5604-37A>C n.5645-37A>C | dbSNP |
17 | g.43045840T>A | CA2733917628 | BRCA1 | c.5465-38A>T (n.5465-38A>T) c.5468-38A>T (n.5468-38A>T) c.5342-38A>T (n.5342-38A>T) c.5462-38A>T (n.5462-38A>T) c.5390-38A>T (n.5390-38A>T) c.2156-38A>T (n.2156-38A>T) c.2018-38A>T (n.2018-38A>T) c.4580-38A>T (n.4580-38A>T) c.5345-38A>T (n.5345-38A>T) c.5534-38A>T (n.5534-38A>T) c.5327-38A>T (n.5327-38A>T) c.2030-38A>T (n.2030-38A>T) n.1351-38A>T n.832-38A>T c.5531-38A>T (n.5531-38A>T) c.1855-38A>T c.2042-38A>T (n.2042-38A>T) c.*5251-38A>T (n.*5251-38A>T) c.2082-38A>T (n.2082-38A>T) c.398-38A>T (n.398-38A>T) c.941-38A>T (n.941-38A>T) c.167-38A>T (n.167-38A>T) n.5604-38A>T n.5645-38A>T | dbSNP |