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.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.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.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.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.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.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 |