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.43045673T>A | CA2733916053 | BRCA1 | c.*5A>T (n.*5A>T) n.1480A>T n.961A>T c.1984A>T c.*111A>T (n.*111A>T) n.5733A>T n.5774A>T | dbSNP |
| 17 | g.43045673T>C | CA2733916056 | BRCA1 | c.*5A>G (n.*5A>G) n.1480A>G n.961A>G c.1984A>G c.*111A>G (n.*111A>G) n.5733A>G n.5774A>G | dbSNP |
| 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.43045674G>A | CA16607595 | BRCA1 | c.*4C>T (n.*4C>T) n.1479C>T n.960C>T c.1983C>T c.*110C>T (n.*110C>T) n.5732C>T n.5773C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43045674G>C | CA2733658905 | BRCA1 | c.*4C>G (n.*4C>G) n.1479C>G n.960C>G c.1983C>G c.*110C>G (n.*110C>G) n.5732C>G n.5773C>G | dbSNP |
| 17 | g.43045674G= | CA2260760997 | BRCA1 | c.*4C= (n.*4C=) n.1479C= n.960C= c.1983C= c.*110C= (n.*110C=) n.5732C= n.5773C= | |
| 17 | g.43045674G>T | CA2733658906 | BRCA1 | c.*4C>A (n.*4C>A) n.1479C>A n.960C>A c.1983C>A c.*110C>A (n.*110C>A) n.5732C>A n.5773C>A | dbSNP |
| 17 | g.43045675C>A | CA16608428 | BRCA1 | c.*3G>T (n.*3G>T) n.1478G>T n.959G>T c.1982G>T c.*109G>T (n.*109G>T) n.5731G>T n.5772G>T | ClinVar dbSNP |
| 17 | g.43045675C= | CA2260760998 | BRCA1 | c.*3G= (n.*3G=) n.1478G= n.959G= c.1982G= c.*109G= (n.*109G=) n.5731G= n.5772G= | |
| 17 | g.43045675C>G | CA2733658908 | BRCA1 | c.*3G>C (n.*3G>C) n.1478G>C n.959G>C c.1982G>C c.*109G>C (n.*109G>C) n.5731G>C n.5772G>C | dbSNP |
| 17 | g.43045675C>T | CA983865027 | BRCA1 | c.*3G>A (n.*3G>A) n.1478G>A n.959G>A c.1982G>A c.*109G>A (n.*109G>A) n.5731G>A n.5772G>A | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.43045676A>G | CA2733916064 | BRCA1 | c.*2T>C (n.*2T>C) n.1477T>C n.958T>C c.1981T>C c.*108T>C (n.*108T>C) n.5730T>C n.5771T>C | dbSNP |
| 17 | g.43045676A>T | CA2638036265 | BRCA1 | c.*2T>A (n.*2T>A) n.1477T>A n.958T>A c.1981T>A c.*108T>A (n.*108T>A) n.5730T>A n.5771T>A | dbSNP gnomAD v4 |
| 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.43045677G>A | CA001333 | BRCA1 | c.*1C>T (n.*1C>T) n.1476C>T n.957C>T c.1980C>T c.*107C>T (n.*107C>T) n.5729C>T n.5770C>T | ClinVar dbSNP |
| 17 | g.43045677G>C | CA2733646044 | BRCA1 | c.*1C>G (n.*1C>G) n.1476C>G n.957C>G c.1980C>G c.*107C>G (n.*107C>G) n.5729C>G n.5770C>G | dbSNP |
| 17 | g.43045677G= | CA2260760999 | BRCA1 | c.*1C= (n.*1C=) n.1476C= n.957C= c.1980C= c.*107C= (n.*107C=) n.5729C= n.5770C= | |
| 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 |