UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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.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.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.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.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.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.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.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.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.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 |