WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.43045671_43045690del | CA2733916003 | BRCA1 | c.5584_*14del (n.[c.5584_*14del;Tyr1862ArgfsTer10]) c.5587_*14del (n.[c.5587_*14del;Tyr1863ArgfsTer10]) c.5461_*14del (n.[c.5461_*14del;Tyr1821ArgfsTer10]) c.5581_*14del (n.[c.5581_*14del;Tyr1861ArgfsTer10]) c.5509_*14del (n.[c.5509_*14del;Tyr1837ArgfsTer10]) c.2275_*14del (n.[c.2275_*14del;Tyr759ArgfsTer10]) c.2137_*14del (n.[c.2137_*14del;Tyr713ArgfsTer10]) c.4699_*14del (n.[c.4699_*14del;Tyr1567ArgfsTer10]) c.5464_*14del (n.[c.5464_*14del;Tyr1822ArgfsTer10]) c.5653_*14del (n.[c.5653_*14del;Tyr1885ArgfsTer10]) c.5446_*14del (n.[c.5446_*14del;Tyr1816ArgfsTer10]) c.2149_*14del (n.[c.2149_*14del;Tyr717ArgfsTer10]) n.1470_1489del n.951_970del c.5650_*14del (n.[c.5650_*14del;Tyr1884ArgfsTer10]) c.1974_1993del c.2161_*14del (n.[c.2161_*14del;Tyr721ArgfsTer10]) c.*101_*120del (n.*101_*120del) c.517_*14del (n.[c.517_*14del;Tyr173ArgfsTer10]) c.1060_*14del (n.[c.1060_*14del;Tyr354ArgfsTer10]) c.286_*14del (n.[c.286_*14del;Tyr96ArgfsTer10]) n.5723_5742del n.5764_5783del | dbSNP |
| 17 | g.43045669_43045682del | CA2499306739 | BRCA1 | c.5585_*9del (n.[c.5585_*9del;Tyr1862CysfsTer12]) c.5588_*9del (n.[c.5588_*9del;Tyr1863CysfsTer12]) c.5462_*9del (n.[c.5462_*9del;Tyr1821CysfsTer12]) c.5582_*9del (n.[c.5582_*9del;Tyr1861CysfsTer12]) c.5510_*9del (n.[c.5510_*9del;Tyr1837CysfsTer12]) c.2276_*9del (n.[c.2276_*9del;Tyr759CysfsTer12]) c.2138_*9del (n.[c.2138_*9del;Tyr713CysfsTer12]) c.4700_*9del (n.[c.4700_*9del;Tyr1567CysfsTer12]) c.5465_*9del (n.[c.5465_*9del;Tyr1822CysfsTer12]) c.5654_*9del (n.[c.5654_*9del;Tyr1885CysfsTer12]) c.5447_*9del (n.[c.5447_*9del;Tyr1816CysfsTer12]) c.2150_*9del (n.[c.2150_*9del;Tyr717CysfsTer12]) n.1471_1484del n.952_965del c.5651_*9del (n.[c.5651_*9del;Tyr1884CysfsTer12]) c.1975_1988del c.2162_*9del (n.[c.2162_*9del;Tyr721CysfsTer12]) c.*102_*115del (n.*102_*115del) c.518_*9del (n.[c.518_*9del;Tyr173CysfsTer12]) c.1061_*9del (n.[c.1061_*9del;Tyr354CysfsTer12]) c.287_*9del (n.[c.287_*9del;Tyr96CysfsTer12]) n.5724_5737del n.5765_5778del | |
| 17 | g.43045676_43045803del | CA2499224337 | BRCA1 | c.5467_*5del c.5470_*5del c.5344_*5del c.5464_*5del c.5392_*5del c.2158_*5del c.2020_*5del c.4582_*5del c.5347_*5del c.5536_*5del c.5329_*5del c.2032_*5del n.1353_1480del n.834_961del c.5533_*5del c.1857_1984del c.2044_*5del c.2084_*111del c.400_*5del c.943_*5del c.169_*5del n.5606_5733del n.5647_5774del | ClinVar dbSNP |
| 17 | g.43045676_43045691del | CA2580093786 | BRCA1 | c.5576_*2del (n.[c.5576_*2del;His1859ArgfsTer?]) c.5579_*2del (n.[c.5579_*2del;His1860ArgfsTer?]) c.5453_*2del (n.[c.5453_*2del;His1818ArgfsTer?]) c.5573_*2del (n.[c.5573_*2del;His1858ArgfsTer?]) c.5501_*2del (n.[c.5501_*2del;His1834ArgfsTer?]) c.2267_*2del (n.[c.2267_*2del;His756ArgfsTer?]) c.2129_*2del (n.[c.2129_*2del;His710ArgfsTer?]) c.4691_*2del (n.[c.4691_*2del;His1564ArgfsTer?]) c.5456_*2del (n.[c.5456_*2del;His1819ArgfsTer?]) c.5645_*2del (n.[c.5645_*2del;His1882ArgfsTer?]) c.5438_*2del (n.[c.5438_*2del;His1813ArgfsTer?]) c.2141_*2del (n.[c.2141_*2del;His714ArgfsTer?]) n.1462_1477del n.943_958del c.5642_*2del (n.[c.5642_*2del;His1881ArgfsTer?]) c.1966_1981del c.2153_*2del (n.[c.2153_*2del;His718ArgfsTer?]) c.*93_*108del (n.*93_*108del) c.509_*2del (n.[c.509_*2del;His170ArgfsTer?]) c.1052_*2del (n.[c.1052_*2del;His351ArgfsTer?]) c.278_*2del (n.[c.278_*2del;His93ArgfsTer?]) n.5715_5730del n.5756_5771del | ClinVar |
| 17 | g.43045676_43045993del | CA2499224338 | BRCA1 | c.5465-191_*2del c.5468-191_*2del c.5342-191_*2del c.5462-191_*2del c.5390-191_*2del c.2156-191_*2del c.2018-191_*2del c.4580-191_*2del c.5345-191_*2del c.5534-191_*2del c.5327-191_*2del c.2030-191_*2del n.1351-191_1477del n.832-191_958del c.5531-191_*2del c.1855-191_1981del c.2042-191_*2del c.2082-191_*108del c.398-191_*2del c.941-191_*2del c.167-191_*2del n.5604-191_5730del n.5645-191_5771del | ClinVar dbSNP |
| 17 | g.43045678T>A | CA10590138 | BRCA1 | c.5589A>T (p.Ter1863Cys) c.5592A>T (p.Ter1864Cys) c.5466A>T (p.Ter1822Cys) c.5586A>T (p.Ter1862Cys) c.5514A>T (p.Ter1838Cys) c.2280A>T (p.Ter760Cys) c.2142A>T (p.Ter714Cys) c.4704A>T (p.Ter1568Cys) c.5469A>T (p.Ter1823Cys) c.5658A>T (p.Ter1886Cys) c.5451A>T (p.Ter1817Cys) c.2154A>T (p.Ter718Cys) n.1475A>T n.956A>T c.5655A>T (p.Ter1885Cys) c.1979A>T c.2166A>T (p.Ter722Cys) c.*5375A>T (n.*5375A>T) c.*106A>T (n.*106A>T) c.522A>T (p.Ter174Cys) c.1065A>T (p.Ter355Cys) c.291A>T (p.Ter97Cys) n.5728A>T n.5769A>T | dbSNP |
| 17 | g.43045678T>C | CA10590139 | BRCA1 | c.5589A>G (p.Ter1863Trp) c.5592A>G (p.Ter1864Trp) c.5466A>G (p.Ter1822Trp) c.5586A>G (p.Ter1862Trp) c.5514A>G (p.Ter1838Trp) c.2280A>G (p.Ter760Trp) c.2142A>G (p.Ter714Trp) c.4704A>G (p.Ter1568Trp) c.5469A>G (p.Ter1823Trp) c.5658A>G (p.Ter1886Trp) c.5451A>G (p.Ter1817Trp) c.2154A>G (p.Ter718Trp) n.1475A>G n.956A>G c.5655A>G (p.Ter1885Trp) c.1979A>G c.2166A>G (p.Ter722Trp) c.*5375A>G (n.*5375A>G) c.*106A>G (n.*106A>G) c.522A>G (p.Ter174Trp) c.1065A>G (p.Ter355Trp) c.291A>G (p.Ter97Trp) n.5728A>G n.5769A>G | ClinVar dbSNP |
| 17 | g.43045678T>G | CA10590140 | BRCA1 | c.5589A>C (p.Ter1863Cys) c.5592A>C (p.Ter1864Cys) c.5466A>C (p.Ter1822Cys) c.5586A>C (p.Ter1862Cys) c.5514A>C (p.Ter1838Cys) c.2280A>C (p.Ter760Cys) c.2142A>C (p.Ter714Cys) c.4704A>C (p.Ter1568Cys) c.5469A>C (p.Ter1823Cys) c.5658A>C (p.Ter1886Cys) c.5451A>C (p.Ter1817Cys) c.2154A>C (p.Ter718Cys) n.1475A>C n.956A>C c.5655A>C (p.Ter1885Cys) c.1979A>C c.2166A>C (p.Ter722Cys) c.*5375A>C (n.*5375A>C) c.*106A>C (n.*106A>C) c.522A>C (p.Ter174Cys) c.1065A>C (p.Ter355Cys) c.291A>C (p.Ter97Cys) n.5728A>C n.5769A>C | dbSNP |
| 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.43045679C>A | CA10590141 | BRCA1 | c.5588G>T (p.Ter1863Leu) c.5591G>T (p.Ter1864Leu) c.5465G>T (p.Ter1822Leu) c.5585G>T (p.Ter1862Leu) c.5513G>T (p.Ter1838Leu) c.2279G>T (p.Ter760Leu) c.2141G>T (p.Ter714Leu) c.4703G>T (p.Ter1568Leu) c.5468G>T (p.Ter1823Leu) c.5657G>T (p.Ter1886Leu) c.5450G>T (p.Ter1817Leu) c.2153G>T (p.Ter718Leu) n.1474G>T n.955G>T c.5654G>T (p.Ter1885Leu) c.1978G>T c.2165G>T (p.Ter722Leu) c.*5374G>T (n.*5374G>T) c.*105G>T (n.*105G>T) c.521G>T (p.Ter174Leu) c.1064G>T (p.Ter355Leu) c.290G>T (p.Ter97Leu) n.5727G>T n.5768G>T | dbSNP |
| 17 | g.43045679C= | CA2260761000 | BRCA1 | c.5588G= (p.Ter1863=) c.5591G= (p.Ter1864=) c.5465G= (p.Ter1822=) c.5585G= (p.Ter1862=) c.5513G= (p.Ter1838=) c.2279G= (p.Ter760=) c.2141G= (p.Ter714=) c.4703G= (p.Ter1568=) c.5468G= (p.Ter1823=) c.5657G= (p.Ter1886=) c.5450G= (p.Ter1817=) c.2153G= (p.Ter718=) n.1474G= n.955G= c.5654G= (p.Ter1885=) c.1978G= c.2165G= (p.Ter722=) c.*5374G= (n.*5374G=) c.*105G= (n.*105G=) c.521G= (p.Ter174=) c.1064G= (p.Ter355=) c.290G= (p.Ter97=) n.5727G= n.5768G= | |
| 17 | g.43045679C>G | CA10590142 | BRCA1 | c.5588G>C (p.Ter1863Ser) c.5591G>C (p.Ter1864Ser) c.5465G>C (p.Ter1822Ser) c.5585G>C (p.Ter1862Ser) c.5513G>C (p.Ter1838Ser) c.2279G>C (p.Ter760Ser) c.2141G>C (p.Ter714Ser) c.4703G>C (p.Ter1568Ser) c.5468G>C (p.Ter1823Ser) c.5657G>C (p.Ter1886Ser) c.5450G>C (p.Ter1817Ser) c.2153G>C (p.Ter718Ser) n.1474G>C n.955G>C c.5654G>C (p.Ter1885Ser) c.1978G>C c.2165G>C (p.Ter722Ser) c.*5374G>C (n.*5374G>C) c.*105G>C (n.*105G>C) c.521G>C (p.Ter174Ser) c.1064G>C (p.Ter355Ser) c.290G>C (p.Ter97Ser) n.5727G>C n.5768G>C | dbSNP |
| 17 | g.43045679C>T | CA500142868 | BRCA1 | c.5588G>A (p.Ter1863=) c.5591G>A (p.Ter1864=) c.5465G>A (p.Ter1822=) c.5585G>A (p.Ter1862=) c.5513G>A (p.Ter1838=) c.2279G>A (p.Ter760=) c.2141G>A (p.Ter714=) c.4703G>A (p.Ter1568=) c.5468G>A (p.Ter1823=) c.5657G>A (p.Ter1886=) c.5450G>A (p.Ter1817=) c.2153G>A (p.Ter718=) n.1474G>A n.955G>A c.5654G>A (p.Ter1885=) c.1978G>A c.2165G>A (p.Ter722=) c.*5374G>A (n.*5374G>A) c.*105G>A (n.*105G>A) c.521G>A (p.Ter174=) c.1064G>A (p.Ter355=) c.290G>A (p.Ter97=) n.5727G>A n.5768G>A | ClinVar dbSNP |
| 17 | g.43045680A>C | CA10590143 | BRCA1 | c.5587T>G (p.Ter1863Gly) c.5590T>G (p.Ter1864Gly) c.5464T>G (p.Ter1822Gly) c.5584T>G (p.Ter1862Gly) c.5512T>G (p.Ter1838Gly) c.2278T>G (p.Ter760Gly) c.2140T>G (p.Ter714Gly) c.4702T>G (p.Ter1568Gly) c.5467T>G (p.Ter1823Gly) c.5656T>G (p.Ter1886Gly) c.5449T>G (p.Ter1817Gly) c.2152T>G (p.Ter718Gly) n.1473T>G n.954T>G c.5653T>G (p.Ter1885Gly) c.1977T>G c.2164T>G (p.Ter722Gly) c.*5373T>G (n.*5373T>G) c.*104T>G (n.*104T>G) c.520T>G (p.Ter174Gly) c.1063T>G (p.Ter355Gly) c.289T>G (p.Ter97Gly) n.5726T>G n.5767T>G | |
| 17 | g.43045680A>G | CA10590144 | BRCA1 | c.5587T>C (p.Ter1863Arg) c.5590T>C (p.Ter1864Arg) c.5464T>C (p.Ter1822Arg) c.5584T>C (p.Ter1862Arg) c.5512T>C (p.Ter1838Arg) c.2278T>C (p.Ter760Arg) c.2140T>C (p.Ter714Arg) c.4702T>C (p.Ter1568Arg) c.5467T>C (p.Ter1823Arg) c.5656T>C (p.Ter1886Arg) c.5449T>C (p.Ter1817Arg) c.2152T>C (p.Ter718Arg) n.1473T>C n.954T>C c.5653T>C (p.Ter1885Arg) c.1977T>C c.2164T>C (p.Ter722Arg) c.*5373T>C (n.*5373T>C) c.*104T>C (n.*104T>C) c.520T>C (p.Ter174Arg) c.1063T>C (p.Ter355Arg) c.289T>C (p.Ter97Arg) n.5726T>C n.5767T>C | |
| 17 | g.43045680A>T | CA10590145 | BRCA1 | c.5587T>A (p.Ter1863Arg) c.5590T>A (p.Ter1864Arg) c.5464T>A (p.Ter1822Arg) c.5584T>A (p.Ter1862Arg) c.5512T>A (p.Ter1838Arg) c.2278T>A (p.Ter760Arg) c.2140T>A (p.Ter714Arg) c.4702T>A (p.Ter1568Arg) c.5467T>A (p.Ter1823Arg) c.5656T>A (p.Ter1886Arg) c.5449T>A (p.Ter1817Arg) c.2152T>A (p.Ter718Arg) n.1473T>A n.954T>A c.5653T>A (p.Ter1885Arg) c.1977T>A c.2164T>A (p.Ter722Arg) c.*5373T>A (n.*5373T>A) c.*104T>A (n.*104T>A) c.520T>A (p.Ter174Arg) c.1063T>A (p.Ter355Arg) c.289T>A (p.Ter97Arg) n.5726T>A n.5767T>A | ClinVar dbSNP |
| 17 | g.43045681G>A | CA500142869 | BRCA1 | c.5586C>T (p.Tyr1862=) c.5589C>T (p.Tyr1863=) c.5463C>T (p.Tyr1821=) c.5583C>T (p.Tyr1861=) c.5511C>T (p.Tyr1837=) c.2277C>T (p.Tyr759=) c.2139C>T (p.Tyr713=) c.4701C>T (p.Tyr1567=) c.5466C>T (p.Tyr1822=) c.5655C>T (p.Tyr1885=) c.5448C>T (p.Tyr1816=) c.2151C>T (p.Tyr717=) n.1472C>T n.953C>T c.5652C>T (p.Tyr1884=) c.1976C>T c.2163C>T (p.Tyr721=) c.*5372C>T (n.*5372C>T) c.*103C>T (n.*103C>T) c.519C>T (p.Tyr173=) c.1062C>T (p.Tyr354=) c.288C>T (p.Tyr96=) n.5725C>T n.5766C>T | dbSNP gnomAD v2 |
| 17 | g.43045681G>C | CA10590146 | BRCA1 | c.5586C>G (p.Tyr1862Ter) c.5589C>G (p.Tyr1863Ter) c.5463C>G (p.Tyr1821Ter) c.5583C>G (p.Tyr1861Ter) c.5511C>G (p.Tyr1837Ter) c.2277C>G (p.Tyr759Ter) c.2139C>G (p.Tyr713Ter) c.4701C>G (p.Tyr1567Ter) c.5466C>G (p.Tyr1822Ter) c.5655C>G (p.Tyr1885Ter) c.5448C>G (p.Tyr1816Ter) c.2151C>G (p.Tyr717Ter) n.1472C>G n.953C>G c.5652C>G (p.Tyr1884Ter) c.1976C>G c.2163C>G (p.Tyr721Ter) c.*5372C>G (n.*5372C>G) c.*103C>G (n.*103C>G) c.519C>G (p.Tyr173Ter) c.1062C>G (p.Tyr354Ter) c.288C>G (p.Tyr96Ter) n.5725C>G n.5766C>G | dbSNP |
| 17 | g.43045681G= | CA2260761001 | BRCA1 | c.5586C= (p.Tyr1862=) c.5589C= (p.Tyr1863=) c.5463C= (p.Tyr1821=) c.5583C= (p.Tyr1861=) c.5511C= (p.Tyr1837=) c.2277C= (p.Tyr759=) c.2139C= (p.Tyr713=) c.4701C= (p.Tyr1567=) c.5466C= (p.Tyr1822=) c.5655C= (p.Tyr1885=) c.5448C= (p.Tyr1816=) c.2151C= (p.Tyr717=) n.1472C= n.953C= c.5652C= (p.Tyr1884=) c.1976C= c.2163C= (p.Tyr721=) c.*5372C= (n.*5372C=) c.*103C= (n.*103C=) c.519C= (p.Tyr173=) c.1062C= (p.Tyr354=) c.288C= (p.Tyr96=) n.5725C= n.5766C= | |
| 17 | g.43045681G>T | CA10590147 | BRCA1 | c.5586C>A (p.Tyr1862Ter) c.5589C>A (p.Tyr1863Ter) c.5463C>A (p.Tyr1821Ter) c.5583C>A (p.Tyr1861Ter) c.5511C>A (p.Tyr1837Ter) c.2277C>A (p.Tyr759Ter) c.2139C>A (p.Tyr713Ter) c.4701C>A (p.Tyr1567Ter) c.5466C>A (p.Tyr1822Ter) c.5655C>A (p.Tyr1885Ter) c.5448C>A (p.Tyr1816Ter) c.2151C>A (p.Tyr717Ter) n.1472C>A n.953C>A c.5652C>A (p.Tyr1884Ter) c.1976C>A c.2163C>A (p.Tyr721Ter) c.*5372C>A (n.*5372C>A) c.*103C>A (n.*103C>A) c.519C>A (p.Tyr173Ter) c.1062C>A (p.Tyr354Ter) c.288C>A (p.Tyr96Ter) n.5725C>A n.5766C>A | |
| 17 | g.43045682T>A | CA10590148 | BRCA1 | c.5585A>T (p.Tyr1862Phe) c.5588A>T (p.Tyr1863Phe) c.5462A>T (p.Tyr1821Phe) c.5582A>T (p.Tyr1861Phe) c.5510A>T (p.Tyr1837Phe) c.2276A>T (p.Tyr759Phe) c.2138A>T (p.Tyr713Phe) c.4700A>T (p.Tyr1567Phe) c.5465A>T (p.Tyr1822Phe) c.5654A>T (p.Tyr1885Phe) c.5447A>T (p.Tyr1816Phe) c.2150A>T (p.Tyr717Phe) n.1471A>T n.952A>T c.5651A>T (p.Tyr1884Phe) c.1975A>T c.2162A>T (p.Tyr721Phe) c.*5371A>T (n.*5371A>T) c.*102A>T (n.*102A>T) c.518A>T (p.Tyr173Phe) c.1061A>T (p.Tyr354Phe) c.287A>T (p.Tyr96Phe) n.5724A>T n.5765A>T | dbSNP |
| 17 | g.43045682T>C | CA10590149 | BRCA1 | c.5585A>G (p.Tyr1862Cys) c.5588A>G (p.Tyr1863Cys) c.5462A>G (p.Tyr1821Cys) c.5582A>G (p.Tyr1861Cys) c.5510A>G (p.Tyr1837Cys) c.2276A>G (p.Tyr759Cys) c.2138A>G (p.Tyr713Cys) c.4700A>G (p.Tyr1567Cys) c.5465A>G (p.Tyr1822Cys) c.5654A>G (p.Tyr1885Cys) c.5447A>G (p.Tyr1816Cys) c.2150A>G (p.Tyr717Cys) n.1471A>G n.952A>G c.5651A>G (p.Tyr1884Cys) c.1975A>G c.2162A>G (p.Tyr721Cys) c.*5371A>G (n.*5371A>G) c.*102A>G (n.*102A>G) c.518A>G (p.Tyr173Cys) c.1061A>G (p.Tyr354Cys) c.287A>G (p.Tyr96Cys) n.5724A>G n.5765A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045682T>G | CA10590150 | BRCA1 | c.5585A>C (p.Tyr1862Ser) c.5588A>C (p.Tyr1863Ser) c.5462A>C (p.Tyr1821Ser) c.5582A>C (p.Tyr1861Ser) c.5510A>C (p.Tyr1837Ser) c.2276A>C (p.Tyr759Ser) c.2138A>C (p.Tyr713Ser) c.4700A>C (p.Tyr1567Ser) c.5465A>C (p.Tyr1822Ser) c.5654A>C (p.Tyr1885Ser) c.5447A>C (p.Tyr1816Ser) c.2150A>C (p.Tyr717Ser) n.1471A>C n.952A>C c.5651A>C (p.Tyr1884Ser) c.1975A>C c.2162A>C (p.Tyr721Ser) c.*5371A>C (n.*5371A>C) c.*102A>C (n.*102A>C) c.518A>C (p.Tyr173Ser) c.1061A>C (p.Tyr354Ser) c.287A>C (p.Tyr96Ser) n.5724A>C n.5765A>C | dbSNP |
| 17 | g.43045682T= | CA2260761002 | BRCA1 | c.5585A= (p.Tyr1862=) c.5588A= (p.Tyr1863=) c.5462A= (p.Tyr1821=) c.5582A= (p.Tyr1861=) c.5510A= (p.Tyr1837=) c.2276A= (p.Tyr759=) c.2138A= (p.Tyr713=) c.4700A= (p.Tyr1567=) c.5465A= (p.Tyr1822=) c.5654A= (p.Tyr1885=) c.5447A= (p.Tyr1816=) c.2150A= (p.Tyr717=) n.1471A= n.952A= c.5651A= (p.Tyr1884=) c.1975A= c.2162A= (p.Tyr721=) c.*5371A= (n.*5371A=) c.*102A= (n.*102A=) c.518A= (p.Tyr173=) c.1061A= (p.Tyr354=) c.287A= (p.Tyr96=) n.5724A= n.5765A= | |
| 17 | g.43045683A= | CA2260761003 | BRCA1 | c.5584T= (p.Tyr1862=) c.5587T= (p.Tyr1863=) c.5461T= (p.Tyr1821=) c.5581T= (p.Tyr1861=) c.5509T= (p.Tyr1837=) c.2275T= (p.Tyr759=) c.2137T= (p.Tyr713=) c.4699T= (p.Tyr1567=) c.5464T= (p.Tyr1822=) c.5653T= (p.Tyr1885=) c.5446T= (p.Tyr1816=) c.2149T= (p.Tyr717=) n.1470T= n.951T= c.5650T= (p.Tyr1884=) c.1974T= c.2161T= (p.Tyr721=) c.*5370T= (n.*5370T=) c.*101T= (n.*101T=) c.517T= (p.Tyr173=) c.1060T= (p.Tyr354=) c.286T= (p.Tyr96=) n.5723T= n.5764T= | |
| 17 | g.43045683A>C | CA10580478 | BRCA1 | c.5584T>G (p.Tyr1862Asp) c.5587T>G (p.Tyr1863Asp) c.5461T>G (p.Tyr1821Asp) c.5581T>G (p.Tyr1861Asp) c.5509T>G (p.Tyr1837Asp) c.2275T>G (p.Tyr759Asp) c.2137T>G (p.Tyr713Asp) c.4699T>G (p.Tyr1567Asp) c.5464T>G (p.Tyr1822Asp) c.5653T>G (p.Tyr1885Asp) c.5446T>G (p.Tyr1816Asp) c.2149T>G (p.Tyr717Asp) n.1470T>G n.951T>G c.5650T>G (p.Tyr1884Asp) c.1974T>G c.2161T>G (p.Tyr721Asp) c.*5370T>G (n.*5370T>G) c.*101T>G (n.*101T>G) c.517T>G (p.Tyr173Asp) c.1060T>G (p.Tyr354Asp) c.286T>G (p.Tyr96Asp) n.5723T>G n.5764T>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045683A>G | CA10590151 | BRCA1 | c.5584T>C (p.Tyr1862His) c.5587T>C (p.Tyr1863His) c.5461T>C (p.Tyr1821His) c.5581T>C (p.Tyr1861His) c.5509T>C (p.Tyr1837His) c.2275T>C (p.Tyr759His) c.2137T>C (p.Tyr713His) c.4699T>C (p.Tyr1567His) c.5464T>C (p.Tyr1822His) c.5653T>C (p.Tyr1885His) c.5446T>C (p.Tyr1816His) c.2149T>C (p.Tyr717His) n.1470T>C n.951T>C c.5650T>C (p.Tyr1884His) c.1974T>C c.2161T>C (p.Tyr721His) c.*5370T>C (n.*5370T>C) c.*101T>C (n.*101T>C) c.517T>C (p.Tyr173His) c.1060T>C (p.Tyr354His) c.286T>C (p.Tyr96His) n.5723T>C n.5764T>C | dbSNP gnomAD v4 |
| 17 | g.43045683A>T | CA055432 | BRCA1 | c.5584T>A (p.Tyr1862Asn) c.5587T>A (p.Tyr1863Asn) c.5461T>A (p.Tyr1821Asn) c.5581T>A (p.Tyr1861Asn) c.5509T>A (p.Tyr1837Asn) c.2275T>A (p.Tyr759Asn) c.2137T>A (p.Tyr713Asn) c.4699T>A (p.Tyr1567Asn) c.5464T>A (p.Tyr1822Asn) c.5653T>A (p.Tyr1885Asn) c.5446T>A (p.Tyr1816Asn) c.2149T>A (p.Tyr717Asn) n.1470T>A n.951T>A c.5650T>A (p.Tyr1884Asn) c.1974T>A c.2161T>A (p.Tyr721Asn) c.*5370T>A (n.*5370T>A) c.*101T>A (n.*101T>A) c.517T>A (p.Tyr173Asn) c.1060T>A (p.Tyr354Asn) c.286T>A (p.Tyr96Asn) n.5723T>A n.5764T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43045684G>A | CA003736 | BRCA1 | c.5583C>T (p.His1861=) c.5586C>T (p.His1862=) c.5460C>T (p.His1820=) c.5580C>T (p.His1860=) c.5508C>T (p.His1836=) c.2274C>T (p.His758=) c.2136C>T (p.His712=) c.4698C>T (p.His1566=) c.5463C>T (p.His1821=) c.5652C>T (p.His1884=) c.5445C>T (p.His1815=) c.2148C>T (p.His716=) n.1469C>T n.950C>T c.5649C>T (p.His1883=) c.1973C>T c.2160C>T (p.His720=) c.*5369C>T (n.*5369C>T) c.*100C>T (n.*100C>T) c.516C>T (p.His172=) c.1059C>T (p.His353=) c.285C>T (p.His95=) n.5722C>T n.5763C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045684G>C | CA10590152 | BRCA1 | c.5583C>G (p.His1861Gln) c.5586C>G (p.His1862Gln) c.5460C>G (p.His1820Gln) c.5580C>G (p.His1860Gln) c.5508C>G (p.His1836Gln) c.2274C>G (p.His758Gln) c.2136C>G (p.His712Gln) c.4698C>G (p.His1566Gln) c.5463C>G (p.His1821Gln) c.5652C>G (p.His1884Gln) c.5445C>G (p.His1815Gln) c.2148C>G (p.His716Gln) n.1469C>G n.950C>G c.5649C>G (p.His1883Gln) c.1973C>G c.2160C>G (p.His720Gln) c.*5369C>G (n.*5369C>G) c.*100C>G (n.*100C>G) c.516C>G (p.His172Gln) c.1059C>G (p.His353Gln) c.285C>G (p.His95Gln) n.5722C>G n.5763C>G | ClinVar dbSNP |
| 17 | g.43045684G= | CA2260761004 | BRCA1 | c.5583C= (p.His1861=) c.5586C= (p.His1862=) c.5460C= (p.His1820=) c.5580C= (p.His1860=) c.5508C= (p.His1836=) c.2274C= (p.His758=) c.2136C= (p.His712=) c.4698C= (p.His1566=) c.5463C= (p.His1821=) c.5652C= (p.His1884=) c.5445C= (p.His1815=) c.2148C= (p.His716=) n.1469C= n.950C= c.5649C= (p.His1883=) c.1973C= c.2160C= (p.His720=) c.*5369C= (n.*5369C=) c.*100C= (n.*100C=) c.516C= (p.His172=) c.1059C= (p.His353=) c.285C= (p.His95=) n.5722C= n.5763C= | |
| 17 | g.43045684G>T | CA10590153 | BRCA1 | c.5583C>A (p.His1861Gln) c.5586C>A (p.His1862Gln) c.5460C>A (p.His1820Gln) c.5580C>A (p.His1860Gln) c.5508C>A (p.His1836Gln) c.2274C>A (p.His758Gln) c.2136C>A (p.His712Gln) c.4698C>A (p.His1566Gln) c.5463C>A (p.His1821Gln) c.5652C>A (p.His1884Gln) c.5445C>A (p.His1815Gln) c.2148C>A (p.His716Gln) n.1469C>A n.950C>A c.5649C>A (p.His1883Gln) c.1973C>A c.2160C>A (p.His720Gln) c.*5369C>A (n.*5369C>A) c.*100C>A (n.*100C>A) c.516C>A (p.His172Gln) c.1059C>A (p.His353Gln) c.285C>A (p.His95Gln) n.5722C>A n.5763C>A | ClinVar |
| 17 | g.43045685T>A | CA003734 | BRCA1 | c.5582A>T (p.His1861Leu) c.5585A>T (p.His1862Leu) c.5459A>T (p.His1820Leu) c.5579A>T (p.His1860Leu) c.5507A>T (p.His1836Leu) c.2273A>T (p.His758Leu) c.2135A>T (p.His712Leu) c.4697A>T (p.His1566Leu) c.5462A>T (p.His1821Leu) c.5651A>T (p.His1884Leu) c.5444A>T (p.His1815Leu) c.2147A>T (p.His716Leu) n.1468A>T n.949A>T c.5648A>T (p.His1883Leu) c.1972A>T c.2159A>T (p.His720Leu) c.*5368A>T (n.*5368A>T) c.*99A>T (n.*99A>T) c.515A>T (p.His172Leu) c.1058A>T (p.His353Leu) c.284A>T (p.His95Leu) n.5721A>T n.5762A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43045685T>C | CA10590154 | BRCA1 | c.5582A>G (p.His1861Arg) c.5585A>G (p.His1862Arg) c.5459A>G (p.His1820Arg) c.5579A>G (p.His1860Arg) c.5507A>G (p.His1836Arg) c.2273A>G (p.His758Arg) c.2135A>G (p.His712Arg) c.4697A>G (p.His1566Arg) c.5462A>G (p.His1821Arg) c.5651A>G (p.His1884Arg) c.5444A>G (p.His1815Arg) c.2147A>G (p.His716Arg) n.1468A>G n.949A>G c.5648A>G (p.His1883Arg) c.1972A>G c.2159A>G (p.His720Arg) c.*5368A>G (n.*5368A>G) c.*99A>G (n.*99A>G) c.515A>G (p.His172Arg) c.1058A>G (p.His353Arg) c.284A>G (p.His95Arg) n.5721A>G n.5762A>G | ClinVar dbSNP |
| 17 | g.43045685T>G | CA10590155 | BRCA1 | c.5582A>C (p.His1861Pro) c.5585A>C (p.His1862Pro) c.5459A>C (p.His1820Pro) c.5579A>C (p.His1860Pro) c.5507A>C (p.His1836Pro) c.2273A>C (p.His758Pro) c.2135A>C (p.His712Pro) c.4697A>C (p.His1566Pro) c.5462A>C (p.His1821Pro) c.5651A>C (p.His1884Pro) c.5444A>C (p.His1815Pro) c.2147A>C (p.His716Pro) n.1468A>C n.949A>C c.5648A>C (p.His1883Pro) c.1972A>C c.2159A>C (p.His720Pro) c.*5368A>C (n.*5368A>C) c.*99A>C (n.*99A>C) c.515A>C (p.His172Pro) c.1058A>C (p.His353Pro) c.284A>C (p.His95Pro) n.5721A>C n.5762A>C | |
| 17 | g.43045685T= | CA2260761005 | BRCA1 | c.5582A= (p.His1861=) c.5585A= (p.His1862=) c.5459A= (p.His1820=) c.5579A= (p.His1860=) c.5507A= (p.His1836=) c.2273A= (p.His758=) c.2135A= (p.His712=) c.4697A= (p.His1566=) c.5462A= (p.His1821=) c.5651A= (p.His1884=) c.5444A= (p.His1815=) c.2147A= (p.His716=) n.1468A= n.949A= c.5648A= (p.His1883=) c.1972A= c.2159A= (p.His720=) c.*5368A= (n.*5368A=) c.*99A= (n.*99A=) c.515A= (p.His172=) c.1058A= (p.His353=) c.284A= (p.His95=) n.5721A= n.5762A= | |
| 17 | g.43045686G>A | CA055411 | BRCA1 | c.5581C>T (p.His1861Tyr) c.5584C>T (p.His1862Tyr) c.5458C>T (p.His1820Tyr) c.5578C>T (p.His1860Tyr) c.5506C>T (p.His1836Tyr) c.2272C>T (p.His758Tyr) c.2134C>T (p.His712Tyr) c.4696C>T (p.His1566Tyr) c.5461C>T (p.His1821Tyr) c.5650C>T (p.His1884Tyr) c.5443C>T (p.His1815Tyr) c.2146C>T (p.His716Tyr) n.1467C>T n.948C>T c.5647C>T (p.His1883Tyr) c.1971C>T c.2158C>T (p.His720Tyr) c.*5367C>T (n.*5367C>T) c.*98C>T (n.*98C>T) c.514C>T (p.His172Tyr) c.1057C>T (p.His353Tyr) c.283C>T (p.His95Tyr) n.5720C>T n.5761C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43045686G>C | CA10590156 | BRCA1 | c.5581C>G (p.His1861Asp) c.5584C>G (p.His1862Asp) c.5458C>G (p.His1820Asp) c.5578C>G (p.His1860Asp) c.5506C>G (p.His1836Asp) c.2272C>G (p.His758Asp) c.2134C>G (p.His712Asp) c.4696C>G (p.His1566Asp) c.5461C>G (p.His1821Asp) c.5650C>G (p.His1884Asp) c.5443C>G (p.His1815Asp) c.2146C>G (p.His716Asp) n.1467C>G n.948C>G c.5647C>G (p.His1883Asp) c.1971C>G c.2158C>G (p.His720Asp) c.*5367C>G (n.*5367C>G) c.*98C>G (n.*98C>G) c.514C>G (p.His172Asp) c.1057C>G (p.His353Asp) c.283C>G (p.His95Asp) n.5720C>G n.5761C>G | dbSNP |
| 17 | g.43045686G= | CA2260761006 | BRCA1 | c.5581C= (p.His1861=) c.5584C= (p.His1862=) c.5458C= (p.His1820=) c.5578C= (p.His1860=) c.5506C= (p.His1836=) c.2272C= (p.His758=) c.2134C= (p.His712=) c.4696C= (p.His1566=) c.5461C= (p.His1821=) c.5650C= (p.His1884=) c.5443C= (p.His1815=) c.2146C= (p.His716=) n.1467C= n.948C= c.5647C= (p.His1883=) c.1971C= c.2158C= (p.His720=) c.*5367C= (n.*5367C=) c.*98C= (n.*98C=) c.514C= (p.His172=) c.1057C= (p.His353=) c.283C= (p.His95=) n.5720C= n.5761C= | |
| 17 | g.43045686G>T | CA10590157 | BRCA1 | c.5581C>A (p.His1861Asn) c.5584C>A (p.His1862Asn) c.5458C>A (p.His1820Asn) c.5578C>A (p.His1860Asn) c.5506C>A (p.His1836Asn) c.2272C>A (p.His758Asn) c.2134C>A (p.His712Asn) c.4696C>A (p.His1566Asn) c.5461C>A (p.His1821Asn) c.5650C>A (p.His1884Asn) c.5443C>A (p.His1815Asn) c.2146C>A (p.His716Asn) n.1467C>A n.948C>A c.5647C>A (p.His1883Asn) c.1971C>A c.2158C>A (p.His720Asn) c.*5367C>A (n.*5367C>A) c.*98C>A (n.*98C>A) c.514C>A (p.His172Asn) c.1057C>A (p.His353Asn) c.283C>A (p.His95Asn) n.5720C>A n.5761C>A | |
| 17 | g.43045687del | CA2638036266 | BRCA1 | c.5581del (p.His1861ThrfsTer?) c.5584del (p.His1862ThrfsTer?) c.5458del (p.His1820ThrfsTer?) c.5578del (p.His1860ThrfsTer?) c.5506del (p.His1836ThrfsTer?) c.2272del (p.His758ThrfsTer?) c.2134del (p.His712ThrfsTer?) c.4696del (p.His1566ThrfsTer?) c.5461del (p.His1821ThrfsTer?) c.5650del (p.His1884ThrfsTer?) c.5443del (p.His1815ThrfsTer?) c.2146del (p.His716ThrfsTer?) n.1467del n.948del c.5647del (p.His1883ThrfsTer?) c.1971del c.2158del (p.His720ThrfsTer?) c.*5367del (n.*5367del) c.*98del (n.*98del) c.514del (p.His172ThrfsTer?) c.1057del (p.His353ThrfsTer?) c.283del (p.His95ThrfsTer?) n.5720del n.5761del | dbSNP gnomAD v4 |
| 17 | g.43045687G>A | CA500142870 | BRCA1 | c.5580C>T (p.Ser1860=) c.5583C>T (p.Ser1861=) c.5457C>T (p.Ser1819=) c.5577C>T (p.Ser1859=) c.5505C>T (p.Ser1835=) c.2271C>T (p.Ser757=) c.2133C>T (p.Ser711=) c.4695C>T (p.Ser1565=) c.5460C>T (p.Ser1820=) c.5649C>T (p.Ser1883=) c.5442C>T (p.Ser1814=) c.2145C>T (p.Ser715=) n.1466C>T n.947C>T c.5646C>T (p.Ser1882=) c.1970C>T c.2157C>T (p.Ser719=) c.*5366C>T (n.*5366C>T) c.*97C>T (n.*97C>T) c.513C>T (p.Ser171=) c.1056C>T (p.Ser352=) c.282C>T (p.Ser94=) n.5719C>T n.5760C>T | dbSNP |