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.43051066_43057138del | CA2581463411 | BRCA1 | c.5191_5329del c.5194_5332del c.5068_5206del c.5188_5326del c.5116_5254del c.1882_2020del c.1744_1882del c.4306_4444del c.5071_5209del c.5260_5398del c.5053_5191del c.1756_1894del c.5257_5395del c.1581_1719del c.1768_1906del c.*4977_*5115del c.124_262del c.667_805del c.-98-6945_-98-873del (n.-98-6945_-98-873del) n.5330_5468del n.5371_5509del | |
| 17 | g.43052946_43059974del | CA1139665560 | BRCA1 | c.5191-2834_5275-1824del c.5194-2834_5278-1824del c.5068-2834_5152-1824del c.5188-2834_5272-1824del c.5116-2834_5200-1824del c.1882-2834_1966-1824del c.1744-2834_1828-1824del c.4306-2834_4390-1824del c.5071-2834_5155-1824del c.5260-2834_5344-1824del c.5053-2834_5137-1824del c.1756-2834_1840-1824del c.5257-2834_5341-1824del c.1581-2834_1665-1824del c.1768-2834_1852-1824del c.*4977-2834_*5061-1824del c.124-2834_208-1824del c.667-2834_751-1824del c.-98-9779_-98-2751del (n.-98-9779_-98-2751del) n.5330-2834_5414-1824del n.5371-2834_5455-1824del | ClinVar |
| 17 | g.43053415_43057588del | CA10602575 | BRCA1 | c.5191-452_5275-2297del c.5194-452_5278-2297del c.5068-452_5152-2297del c.5188-452_5272-2297del c.5116-452_5200-2297del c.1882-452_1966-2297del c.1744-452_1828-2297del c.4306-452_4390-2297del c.5071-452_5155-2297del c.5260-452_5344-2297del c.5053-452_5137-2297del c.1756-452_1840-2297del c.5257-452_5341-2297del c.1581-452_1665-2297del c.1768-452_1852-2297del c.*4977-452_*5061-2297del c.124-452_208-2297del c.667-452_751-2297del c.-98-7397_-98-3224del (n.-98-7397_-98-3224del) n.5330-452_5414-2297del n.5371-452_5455-2297del | ClinVar |
| 17 | g.43053428_43057600del | CA913191184 | BRCA1 | c.5191-453_5275-2299del c.5194-453_5278-2299del c.5068-453_5152-2299del c.5188-453_5272-2299del c.5116-453_5200-2299del c.1882-453_1966-2299del c.1744-453_1828-2299del c.4306-453_4390-2299del c.5071-453_5155-2299del c.5260-453_5344-2299del c.5053-453_5137-2299del c.1756-453_1840-2299del c.5257-453_5341-2299del c.1581-453_1665-2299del c.1768-453_1852-2299del c.*4977-453_*5061-2299del c.124-453_208-2299del c.667-453_751-2299del c.-98-7398_-98-3226del (n.-98-7398_-98-3226del) n.5330-453_5414-2299del n.5371-453_5455-2299del | ClinVar |
| 17 | g.43053870_43057116delinsA | CA2580094093 | BRCA1 | c.5210_5275-2753delinsT c.5213_5278-2753delinsT c.5087_5152-2753delinsT c.5207_5272-2753delinsT c.5135_5200-2753delinsT c.1901_1966-2753delinsT c.1763_1828-2753delinsT c.4325_4390-2753delinsT c.5090_5155-2753delinsT c.5279_5344-2753delinsT c.5072_5137-2753delinsT c.1775_1840-2753delinsT c.5276_5341-2753delinsT c.1600_1665-2753delinsT c.1787_1852-2753delinsT c.*4996_*5061-2753delinsT c.143_208-2753delinsT c.686_751-2753delinsT c.-98-6926_-98-3680delinsT (n.-98-6926_-98-3680delinsT) n.5349_5414-2753delinsT n.5390_5455-2753delinsT | ClinVar |
| 17 | g.43053874_43057073del | CA16043344 | BRCA1 | c.5253_5275-2757del c.5256_5278-2757del c.5130_5152-2757del c.5250_5272-2757del c.5178_5200-2757del c.1944_1966-2757del c.1806_1828-2757del c.4368_4390-2757del c.5133_5155-2757del c.5322_5344-2757del c.5115_5137-2757del c.1818_1840-2757del c.5319_5341-2757del c.1643_1665-2757del c.1830_1852-2757del c.*5039_*5061-2757del c.186_208-2757del c.729_751-2757del c.-98-6883_-98-3684del (n.-98-6883_-98-3684del) n.5392_5414-2757del n.5433_5455-2757del | ClinVar |
| 17 | g.43054269_43057091del | CA10602577 | BRCA1 | c.5240_5274+2788del c.5243_5277+2788del c.5117_5151+2788del c.5237_5271+2788del c.5165_5199+2788del c.1931_1965+2788del c.1793_1827+2788del c.4355_4389+2788del c.5120_5154+2788del c.5309_5343+2788del c.5102_5136+2788del c.1805_1839+2788del c.5306_5340+2788del c.1630_1664+2788del c.1817_1851+2788del c.*5026_*5060+2788del c.173_207+2788del c.716_750+2788del c.-98-6896_-98-4074del (n.-98-6896_-98-4074del) n.5379_5413+2788del n.5420_5454+2788del | |
| 17 | g.43054853_43063000del | CA10602578 | BRCA1 | c.5190+340_5274+2206del c.5193+340_5277+2206del c.5067+340_5151+2206del c.5187+340_5271+2206del c.5115+340_5199+2206del c.1881+340_1965+2206del c.1743+340_1827+2206del c.4305+340_4389+2206del c.5070+340_5154+2206del c.5259+340_5343+2206del c.5052+340_5136+2206del c.1755+340_1839+2206del c.5256+340_5340+2206del c.1580+340_1664+2206del c.1767+340_1851+2206del c.*4976+340_*5060+2206del c.123+340_207+2206del c.666+340_750+2206del c.-98-12803_-98-4656del (n.-98-12803_-98-4656del) n.5329+340_5413+2206del n.5370+340_5454+2206del | ClinVar |
| 17 | g.43056382_43060705del | CA16043345 | BRCA1 | c.5190+2628_5274+670del c.5193+2628_5277+670del c.5067+2628_5151+670del c.5187+2628_5271+670del c.5115+2628_5199+670del c.1881+2628_1965+670del c.1743+2628_1827+670del c.4305+2628_4389+670del c.5070+2628_5154+670del c.5259+2628_5343+670del c.5052+2628_5136+670del c.1755+2628_1839+670del c.5256+2628_5340+670del c.1580+2628_1664+670del c.1767+2628_1851+670del c.*4976+2628_*5060+670del c.123+2628_207+670del c.666+2628_750+670del c.-98-10515_-98-6192del (n.-98-10515_-98-6192del) n.5329+2628_5413+670del n.5370+2628_5454+670del | ClinVar |
| 17 | g.43057050_43057055del | CA16615648 | BRCA1 | c.5274+1_5274+6del c.5277+1_5277+6del c.5151+1_5151+6del c.5271+1_5271+6del c.5199+1_5199+6del c.1965+1_1965+6del c.1827+1_1827+6del c.4389+1_4389+6del c.5154+1_5154+6del c.5343+1_5343+6del c.5136+1_5136+6del c.1839+1_1839+6del c.5340+1_5340+6del c.1664+1_1664+6del c.1851+1_1851+6del c.*5060+1_*5060+6del c.207+1_207+6del c.750+1_750+6del c.-98-6861_-98-6856del (n.-98-6861_-98-6856del) n.5413+1_5413+6del n.5454+1_5454+6del | ClinVar dbSNP |
| 17 | g.43057049_43057254del | CA2499224363 | BRCA1 | c.5191-119_5274+3del c.5194-119_5277+3del c.5068-119_5151+3del c.5188-119_5271+3del c.5116-119_5199+3del c.1882-119_1965+3del c.1744-119_1827+3del c.4306-119_4389+3del c.5071-119_5154+3del c.5260-119_5343+3del c.5053-119_5136+3del c.1756-119_1839+3del c.5257-119_5340+3del c.1581-119_1664+3del c.1768-119_1851+3del c.*4977-119_*5060+3del c.124-119_207+3del c.667-119_750+3del c.-98-7064_-98-6859del (n.-98-7064_-98-6859del) n.5330-119_5413+3del n.5371-119_5454+3del | ClinVar dbSNP |
| 17 | g.43057049_43057971del | CA2499224364 | BRCA1 | c.5191-836_5274+3del c.5194-836_5277+3del c.5068-836_5151+3del c.5188-836_5271+3del c.5116-836_5199+3del c.1882-836_1965+3del c.1744-836_1827+3del c.4306-836_4389+3del c.5071-836_5154+3del c.5260-836_5343+3del c.5053-836_5136+3del c.1756-836_1839+3del c.5257-836_5340+3del c.1581-836_1664+3del c.1768-836_1851+3del c.*4977-836_*5060+3del c.124-836_207+3del c.667-836_750+3del c.-98-7781_-98-6859del (n.-98-7781_-98-6859del) n.5330-836_5413+3del n.5371-836_5454+3del | ClinVar dbSNP |
| 17 | g.43057050_43057136del | CA2499224366 | BRCA1 | c.5191-1_5274+2del c.5194-1_5277+2del c.5068-1_5151+2del c.5188-1_5271+2del c.5116-1_5199+2del c.1882-1_1965+2del c.1744-1_1827+2del c.4306-1_4389+2del c.5071-1_5154+2del c.5260-1_5343+2del c.5053-1_5136+2del c.1756-1_1839+2del c.5257-1_5340+2del c.1581-1_1664+2del c.1768-1_1851+2del c.*4977-1_*5060+2del c.124-1_207+2del c.667-1_750+2del c.-98-6946_-98-6860del (n.-98-6946_-98-6860del) n.5330-1_5413+2del n.5371-1_5454+2del | ClinVar dbSNP |
| 17 | g.43057051_43057178del | CA2499224365 | BRCA1 | c.5191-42_5274+2del c.5194-42_5277+2del c.5068-42_5151+2del c.5188-42_5271+2del c.5116-42_5199+2del c.1882-42_1965+2del c.1744-42_1827+2del c.4306-42_4389+2del c.5071-42_5154+2del c.5260-42_5343+2del c.5053-42_5136+2del c.1756-42_1839+2del c.5257-42_5340+2del c.1581-42_1664+2del c.1768-42_1851+2del c.*4977-42_*5060+2del c.124-42_207+2del c.667-42_750+2del c.-98-6987_-98-6860del (n.-98-6987_-98-6860del) n.5330-42_5413+2del n.5371-42_5454+2del | ClinVar dbSNP |
| 17 | g.43057051_43057058delinsCCTTTCTG | CA2260766357 | BRCA1 | c.5268_5274+1delinsCAGAAAGG c.5271_5277+1delinsCAGAAAGG c.5145_5151+1delinsCAGAAAGG c.5265_5271+1delinsCAGAAAGG c.5193_5199+1delinsCAGAAAGG c.1959_1965+1delinsCAGAAAGG c.1821_1827+1delinsCAGAAAGG c.4383_4389+1delinsCAGAAAGG c.5148_5154+1delinsCAGAAAGG c.5337_5343+1delinsCAGAAAGG c.5130_5136+1delinsCAGAAAGG c.1833_1839+1delinsCAGAAAGG c.5334_5340+1delinsCAGAAAGG c.1658_1664+1delinsCAGAAAGG c.1845_1851+1delinsCAGAAAGG c.*5054_*5060+1delinsCAGAAAGG c.201_207+1delinsCAGAAAGG c.744_750+1delinsCAGAAAGG c.-98-6868_-98-6861delinsCAGAAAGG (n.-98-6868_-98-6861delinsCAGAAAGG) n.5407_5413+1delinsCAGAAAGG n.5448_5454+1delinsCAGAAAGG | |
| 17 | g.43057052_43063333del | CA913189458 | BRCA1 | c.5190+1_5274+1del c.5193+1_5277+1del c.5067+1_5151+1del c.5187+1_5271+1del c.5115+1_5199+1del c.1881+1_1965+1del c.1743+1_1827+1del c.4305+1_4389+1del c.5070+1_5154+1del c.5259+1_5343+1del c.5052+1_5136+1del c.1755+1_1839+1del c.5256+1_5340+1del c.1580+1_1664+1del c.1767+1_1851+1del c.*4976+1_*5060+1del c.123+1_207+1del c.666+1_750+1del c.-98-13142_-98-6861del (n.-98-13142_-98-6861del) n.5329+1_5413+1del n.5370+1_5454+1del | ClinVar |
| 17 | g.43057054_43063375del | CA658655493 | BRCA1 | c.5151_5274+1del c.5154_5277+1del c.5028_5151+1del c.5148_5271+1del c.5076_5199+1del c.1842_1965+1del c.1704_1827+1del c.4266_4389+1del c.5031_5154+1del c.5220_5343+1del c.5013_5136+1del c.1716_1839+1del c.5217_5340+1del c.1541_1664+1del c.1728_1851+1del c.*4937_*5060+1del c.84_207+1del c.627_750+1del c.-98-13182_-98-6861del (n.-98-13182_-98-6861del) n.5290_5413+1del n.5331_5454+1del | |
| 17 | g.43057052_43057058del | CA913191185 | BRCA1 | c.5268_5274del (p.Asp1756GlufsTer6) c.5271_5277del (p.Asp1757GlufsTer6) c.5145_5151del (p.Asp1715GlufsTer6) c.5265_5271del (p.Asp1755GlufsTer6) c.5193_5199del (p.Asp1731GlufsTer6) c.1959_1965del (p.Asp653GlufsTer6) c.1821_1827del (p.Asp607GlufsTer6) c.4383_4389del (p.Asp1461GlufsTer6) c.5148_5154del (p.Asp1716GlufsTer6) c.5337_5343del (p.Asp1779GlufsTer6) c.5130_5136del (p.Asp1710GlufsTer6) c.1833_1839del (p.Asp611GlufsTer6) c.5334_5340del (p.Asp1778GlufsTer6) c.1658_1664del c.1845_1851del (p.Asp615GlufsTer6) c.*5054_*5060del (n.*5054_*5060del) c.201_207del (p.Asp67GlufsTer6) c.744_750del (p.Asp248GlufsTer6) c.-98-6868_-98-6862del (n.-98-6868_-98-6862del) n.5407_5413del n.5448_5454del | ClinVar dbSNP |
| 17 | g.43057052_43057059delinsCTTTCTGT | CA2260766359 | BRCA1 | c.5267_5274delinsACAGAAAG (p.Asp1756=) c.5270_5277delinsACAGAAAG (p.Asp1757=) c.5144_5151delinsACAGAAAG (p.Asp1715=) c.5264_5271delinsACAGAAAG (p.Asp1755=) c.5192_5199delinsACAGAAAG (p.Asp1731=) c.1958_1965delinsACAGAAAG (p.Asp653=) c.1820_1827delinsACAGAAAG (p.Asp607=) c.4382_4389delinsACAGAAAG (p.Asp1461=) c.5147_5154delinsACAGAAAG (p.Asp1716=) c.5336_5343delinsACAGAAAG (p.Asp1779=) c.5129_5136delinsACAGAAAG (p.Asp1710=) c.1832_1839delinsACAGAAAG (p.Asp611=) c.5333_5340delinsACAGAAAG (p.Asp1778=) c.1657_1664delinsACAGAAAG c.1844_1851delinsACAGAAAG (p.Asp615=) c.*5053_*5060delinsACAGAAAG (n.*5053_*5060delinsACAGAAAG) c.200_207delinsACAGAAAG (p.Asp67=) c.743_750delinsACAGAAAG (p.Asp248=) c.-98-6869_-98-6862delinsACAGAAAG (n.-98-6869_-98-6862delinsACAGAAAG) n.5406_5413delinsACAGAAAG n.5447_5454delinsACAGAAAG | |
| 17 | g.43057054_43057137del | CA915940681 | BRCA1 | c.5191_5274del c.5194_5277del c.5068_5151del c.5188_5271del c.5116_5199del c.1882_1965del c.1744_1827del c.4306_4389del c.5071_5154del c.5260_5343del c.5053_5136del c.1756_1839del c.5257_5340del c.1581_1664del c.1768_1851del c.*4977_*5060del c.124_207del c.667_750del c.-98-6945_-98-6862del (n.-98-6945_-98-6862del) n.5330_5413del n.5371_5454del | |
| 17 | g.43057055del | CA003415 | BRCA1 | c.5273del (p.Lys1758ArgfsTer6) c.5276del (p.Lys1759ArgfsTer6) c.5150del (p.Lys1717ArgfsTer6) c.5270del (p.Lys1757ArgfsTer6) c.5198del (p.Lys1733ArgfsTer6) c.1964del (p.Lys655ArgfsTer6) c.1826del (p.Lys609ArgfsTer6) c.4388del (p.Lys1463ArgfsTer6) c.5153del (p.Lys1718ArgfsTer6) c.5342del (p.Lys1781ArgfsTer6) c.5135del (p.Lys1712ArgfsTer6) c.1838del (p.Lys613ArgfsTer6) c.5339del (p.Lys1780ArgfsTer6) c.1663del c.1850del (p.Lys617ArgfsTer6) c.*5059del (n.*5059del) c.206del (p.Lys69ArgfsTer6) c.749del (p.Lys250ArgfsTer6) c.-98-6863del (n.-98-6863del) n.5412del n.5453del | ClinVar dbSNP |
| 17 | g.43057053_43057059del | CA003413 | BRCA1 | c.5267_5273del (p.Asp1756GlyfsTer6) c.5270_5276del (p.Asp1757GlyfsTer6) c.5144_5150del (p.Asp1715GlyfsTer6) c.5264_5270del (p.Asp1755GlyfsTer6) c.5192_5198del (p.Asp1731GlyfsTer6) c.1958_1964del (p.Asp653GlyfsTer6) c.1820_1826del (p.Asp607GlyfsTer6) c.4382_4388del (p.Asp1461GlyfsTer6) c.5147_5153del (p.Asp1716GlyfsTer6) c.5336_5342del (p.Asp1779GlyfsTer6) c.5129_5135del (p.Asp1710GlyfsTer6) c.1832_1838del (p.Asp611GlyfsTer6) c.5333_5339del (p.Asp1778GlyfsTer6) c.1657_1663del c.1844_1850del (p.Asp615GlyfsTer6) c.*5053_*5059del (n.*5053_*5059del) c.200_206del (p.Asp67GlyfsTer6) c.743_749del (p.Asp248GlyfsTer6) c.-98-6869_-98-6863del (n.-98-6869_-98-6863del) n.5406_5412del n.5447_5453del | ClinVar dbSNP |
| 17 | g.43057054_43057061delinsTTCTGTCC | CA2260766364 | BRCA1 | c.5265_5272delinsGGACAGAA (p.Gln1755=) c.5268_5275delinsGGACAGAA (p.Gln1756=) c.5142_5149delinsGGACAGAA (p.Gln1714=) c.5262_5269delinsGGACAGAA (p.Gln1754=) c.5190_5197delinsGGACAGAA (p.Gln1730=) c.1956_1963delinsGGACAGAA (p.Gln652=) c.1818_1825delinsGGACAGAA (p.Gln606=) c.4380_4387delinsGGACAGAA (p.Gln1460=) c.5145_5152delinsGGACAGAA (p.Gln1715=) c.5334_5341delinsGGACAGAA (p.Gln1778=) c.5127_5134delinsGGACAGAA (p.Gln1709=) c.1830_1837delinsGGACAGAA (p.Gln610=) c.5331_5338delinsGGACAGAA (p.Gln1777=) c.1655_1662delinsGGACAGAA c.1842_1849delinsGGACAGAA (p.Gln614=) c.*5051_*5058delinsGGACAGAA (n.*5051_*5058delinsGGACAGAA) c.198_205delinsGGACAGAA (p.Gln66=) c.741_748delinsGGACAGAA (p.Gln247=) c.-98-6871_-98-6864delinsGGACAGAA (n.-98-6871_-98-6864delinsGGACAGAA) n.5404_5411delinsGGACAGAA n.5445_5452delinsGGACAGAA | |
| 17 | g.43057055T>A | CA10591004 | BRCA1 | c.5271A>T (p.Arg1757Ser) c.5274A>T (p.Arg1758Ser) c.5148A>T (p.Arg1716Ser) c.5268A>T (p.Arg1756Ser) c.5196A>T (p.Arg1732Ser) c.1962A>T (p.Arg654Ser) c.1824A>T (p.Arg608Ser) c.4386A>T (p.Arg1462Ser) c.5151A>T (p.Arg1717Ser) c.5340A>T (p.Arg1780Ser) c.5133A>T (p.Arg1711Ser) c.1836A>T (p.Arg612Ser) c.5337A>T (p.Arg1779Ser) c.1661A>T c.1848A>T (p.Arg616Ser) c.*5057A>T (n.*5057A>T) c.204A>T (p.Arg68Ser) c.747A>T (p.Arg249Ser) c.-98-6865A>T (n.-98-6865A>T) n.5410A>T n.5451A>T | ClinVar dbSNP |
| 17 | g.43057055T>C | CA054291 | BRCA1 | c.5271A>G (p.Arg1757=) c.5274A>G (p.Arg1758=) c.5148A>G (p.Arg1716=) c.5268A>G (p.Arg1756=) c.5196A>G (p.Arg1732=) c.1962A>G (p.Arg654=) c.1824A>G (p.Arg608=) c.4386A>G (p.Arg1462=) c.5151A>G (p.Arg1717=) c.5340A>G (p.Arg1780=) c.5133A>G (p.Arg1711=) c.1836A>G (p.Arg612=) c.5337A>G (p.Arg1779=) c.1661A>G c.1848A>G (p.Arg616=) c.*5057A>G (n.*5057A>G) c.204A>G (p.Arg68=) c.747A>G (p.Arg249=) c.-98-6865A>G (n.-98-6865A>G) n.5410A>G n.5451A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43057055T>G | CA10591005 | BRCA1 | c.5271A>C (p.Arg1757Ser) c.5274A>C (p.Arg1758Ser) c.5148A>C (p.Arg1716Ser) c.5268A>C (p.Arg1756Ser) c.5196A>C (p.Arg1732Ser) c.1962A>C (p.Arg654Ser) c.1824A>C (p.Arg608Ser) c.4386A>C (p.Arg1462Ser) c.5151A>C (p.Arg1717Ser) c.5340A>C (p.Arg1780Ser) c.5133A>C (p.Arg1711Ser) c.1836A>C (p.Arg612Ser) c.5337A>C (p.Arg1779Ser) c.1661A>C c.1848A>C (p.Arg616Ser) c.*5057A>C (n.*5057A>C) c.204A>C (p.Arg68Ser) c.747A>C (p.Arg249Ser) c.-98-6865A>C (n.-98-6865A>C) n.5410A>C n.5451A>C | ClinVar dbSNP |
| 17 | g.43057055T= | CA2260766365 | BRCA1 | c.5271A= (p.Arg1757=) c.5274A= (p.Arg1758=) c.5148A= (p.Arg1716=) c.5268A= (p.Arg1756=) c.5196A= (p.Arg1732=) c.1962A= (p.Arg654=) c.1824A= (p.Arg608=) c.4386A= (p.Arg1462=) c.5151A= (p.Arg1717=) c.5340A= (p.Arg1780=) c.5133A= (p.Arg1711=) c.1836A= (p.Arg612=) c.5337A= (p.Arg1779=) c.1661A= c.1848A= (p.Arg616=) c.*5057A= (n.*5057A=) c.204A= (p.Arg68=) c.747A= (p.Arg249=) c.-98-6865A= (n.-98-6865A=) n.5410A= n.5451A= | |
| 17 | g.43057055_43057060delinsTCTGTC | CA2260766366 | BRCA1 | c.5266_5271delinsGACAGA (p.Asp1756=) c.5269_5274delinsGACAGA (p.Asp1757=) c.5143_5148delinsGACAGA (p.Asp1715=) c.5263_5268delinsGACAGA (p.Asp1755=) c.5191_5196delinsGACAGA (p.Asp1731=) c.1957_1962delinsGACAGA (p.Asp653=) c.1819_1824delinsGACAGA (p.Asp607=) c.4381_4386delinsGACAGA (p.Asp1461=) c.5146_5151delinsGACAGA (p.Asp1716=) c.5335_5340delinsGACAGA (p.Asp1779=) c.5128_5133delinsGACAGA (p.Asp1710=) c.1831_1836delinsGACAGA (p.Asp611=) c.5332_5337delinsGACAGA (p.Asp1778=) c.1656_1661delinsGACAGA c.1843_1848delinsGACAGA (p.Asp615=) c.*5052_*5057delinsGACAGA (n.*5052_*5057delinsGACAGA) c.199_204delinsGACAGA (p.Asp67=) c.742_747delinsGACAGA (p.Asp248=) c.-98-6870_-98-6865delinsGACAGA (n.-98-6870_-98-6865delinsGACAGA) n.5405_5410delinsGACAGA n.5446_5451delinsGACAGA | |
| 17 | g.43057056_43057062del | CA10586601 | BRCA1 | c.5265_5271del (p.Asp1756ArgfsTer6) c.5268_5274del (p.Asp1757ArgfsTer6) c.5142_5148del (p.Asp1715ArgfsTer6) c.5262_5268del (p.Asp1755ArgfsTer6) c.5190_5196del (p.Asp1731ArgfsTer6) c.1956_1962del (p.Asp653ArgfsTer6) c.1818_1824del (p.Asp607ArgfsTer6) c.4380_4386del (p.Asp1461ArgfsTer6) c.5145_5151del (p.Asp1716ArgfsTer6) c.5334_5340del (p.Asp1779ArgfsTer6) c.5127_5133del (p.Asp1710ArgfsTer6) c.1830_1836del (p.Asp611ArgfsTer6) c.5331_5337del (p.Asp1778ArgfsTer6) c.1655_1661del c.1842_1848del (p.Asp615ArgfsTer6) c.*5051_*5057del (n.*5051_*5057del) c.198_204del (p.Asp67ArgfsTer6) c.741_747del (p.Asp248ArgfsTer6) c.-98-6871_-98-6865del (n.-98-6871_-98-6865del) n.5404_5410del n.5445_5451del | ClinVar dbSNP |
| 17 | g.43057056del | CA2573153989 | BRCA1 | c.5270del (p.Arg1757LysfsTer7) c.5273del (p.Arg1758LysfsTer7) c.5147del (p.Arg1716LysfsTer7) c.5267del (p.Arg1756LysfsTer7) c.5195del (p.Arg1732LysfsTer7) c.1961del (p.Arg654LysfsTer7) c.1823del (p.Arg608LysfsTer7) c.4385del (p.Arg1462LysfsTer7) c.5150del (p.Arg1717LysfsTer7) c.5339del (p.Arg1780LysfsTer7) c.5132del (p.Arg1711LysfsTer7) c.1835del (p.Arg612LysfsTer7) c.5336del (p.Arg1779LysfsTer7) c.1660del c.1847del (p.Arg616LysfsTer7) c.*5056del (n.*5056del) c.203del (p.Arg68LysfsTer7) c.746del (p.Arg249LysfsTer7) c.-98-6866del (n.-98-6866del) n.5409del n.5450del | ClinVar dbSNP |
| 17 | g.43057056C>A | CA10591006 | BRCA1 | c.5270G>T (p.Arg1757Ile) c.5273G>T (p.Arg1758Ile) c.5147G>T (p.Arg1716Ile) c.5267G>T (p.Arg1756Ile) c.5195G>T (p.Arg1732Ile) c.1961G>T (p.Arg654Ile) c.1823G>T (p.Arg608Ile) c.4385G>T (p.Arg1462Ile) c.5150G>T (p.Arg1717Ile) c.5339G>T (p.Arg1780Ile) c.5132G>T (p.Arg1711Ile) c.1835G>T (p.Arg612Ile) c.5336G>T (p.Arg1779Ile) c.1660G>T c.1847G>T (p.Arg616Ile) c.*5056G>T (n.*5056G>T) c.203G>T (p.Arg68Ile) c.746G>T (p.Arg249Ile) c.-98-6866G>T (n.-98-6866G>T) n.5409G>T n.5450G>T | ClinVar dbSNP |
| 17 | g.43057056C= | CA2260766367 | BRCA1 | c.5270G= (p.Arg1757=) c.5273G= (p.Arg1758=) c.5147G= (p.Arg1716=) c.5267G= (p.Arg1756=) c.5195G= (p.Arg1732=) c.1961G= (p.Arg654=) c.1823G= (p.Arg608=) c.4385G= (p.Arg1462=) c.5150G= (p.Arg1717=) c.5339G= (p.Arg1780=) c.5132G= (p.Arg1711=) c.1835G= (p.Arg612=) c.5336G= (p.Arg1779=) c.1660G= c.1847G= (p.Arg616=) c.*5056G= (n.*5056G=) c.203G= (p.Arg68=) c.746G= (p.Arg249=) c.-98-6866G= (n.-98-6866G=) n.5409G= n.5450G= | |
| 17 | g.43057056C>G | CA10591007 | BRCA1 | c.5270G>C (p.Arg1757Thr) c.5273G>C (p.Arg1758Thr) c.5147G>C (p.Arg1716Thr) c.5267G>C (p.Arg1756Thr) c.5195G>C (p.Arg1732Thr) c.1961G>C (p.Arg654Thr) c.1823G>C (p.Arg608Thr) c.4385G>C (p.Arg1462Thr) c.5150G>C (p.Arg1717Thr) c.5339G>C (p.Arg1780Thr) c.5132G>C (p.Arg1711Thr) c.1835G>C (p.Arg612Thr) c.5336G>C (p.Arg1779Thr) c.1660G>C c.1847G>C (p.Arg616Thr) c.*5056G>C (n.*5056G>C) c.203G>C (p.Arg68Thr) c.746G>C (p.Arg249Thr) c.-98-6866G>C (n.-98-6866G>C) n.5409G>C n.5450G>C | ClinVar dbSNP |
| 17 | g.43057056C>T | CA10591008 | BRCA1 | c.5270G>A (p.Arg1757Lys) c.5273G>A (p.Arg1758Lys) c.5147G>A (p.Arg1716Lys) c.5267G>A (p.Arg1756Lys) c.5195G>A (p.Arg1732Lys) c.1961G>A (p.Arg654Lys) c.1823G>A (p.Arg608Lys) c.4385G>A (p.Arg1462Lys) c.5150G>A (p.Arg1717Lys) c.5339G>A (p.Arg1780Lys) c.5132G>A (p.Arg1711Lys) c.1835G>A (p.Arg612Lys) c.5336G>A (p.Arg1779Lys) c.1660G>A c.1847G>A (p.Arg616Lys) c.*5056G>A (n.*5056G>A) c.203G>A (p.Arg68Lys) c.746G>A (p.Arg249Lys) c.-98-6866G>A (n.-98-6866G>A) n.5409G>A n.5450G>A | ClinVar dbSNP |
| 17 | g.43057059_43057063del | CA003412 | BRCA1 | c.5266_5270del (p.Asp1756LysfsTer?) c.5269_5273del (p.Asp1757LysfsTer?) c.5143_5147del (p.Asp1715LysfsTer?) c.5263_5267del (p.Asp1755LysfsTer?) c.5191_5195del (p.Asp1731LysfsTer?) c.1957_1961del (p.Asp653LysfsTer?) c.1819_1823del (p.Asp607LysfsTer?) c.4381_4385del (p.Asp1461LysfsTer?) c.5146_5150del (p.Asp1716LysfsTer?) c.5335_5339del (p.Asp1779LysfsTer?) c.5128_5132del (p.Asp1710LysfsTer?) c.1831_1835del (p.Asp611LysfsTer?) c.5332_5336del (p.Asp1778LysfsTer?) c.1656_1660del c.1843_1847del (p.Asp615LysfsTer?) c.*5052_*5056del (n.*5052_*5056del) c.199_203del (p.Asp67LysfsTer?) c.742_746del (p.Asp248LysfsTer?) c.-98-6870_-98-6866del (n.-98-6870_-98-6866del) n.5405_5409del n.5446_5450del | ClinVar dbSNP |
| 17 | g.43057057T>A | CA10591009 | BRCA1 | c.5269A>T (p.Arg1757Ter) c.5272A>T (p.Arg1758Ter) c.5146A>T (p.Arg1716Ter) c.5266A>T (p.Arg1756Ter) c.5194A>T (p.Arg1732Ter) c.1960A>T (p.Arg654Ter) c.1822A>T (p.Arg608Ter) c.4384A>T (p.Arg1462Ter) c.5149A>T (p.Arg1717Ter) c.5338A>T (p.Arg1780Ter) c.5131A>T (p.Arg1711Ter) c.1834A>T (p.Arg612Ter) c.5335A>T (p.Arg1779Ter) c.1659A>T c.1846A>T (p.Arg616Ter) c.*5055A>T (n.*5055A>T) c.202A>T (p.Arg68Ter) c.745A>T (p.Arg249Ter) c.-98-6867A>T (n.-98-6867A>T) n.5408A>T n.5449A>T | ClinVar dbSNP |
| 17 | g.43057057T>C | CA10591010 | BRCA1 | c.5269A>G (p.Arg1757Gly) c.5272A>G (p.Arg1758Gly) c.5146A>G (p.Arg1716Gly) c.5266A>G (p.Arg1756Gly) c.5194A>G (p.Arg1732Gly) c.1960A>G (p.Arg654Gly) c.1822A>G (p.Arg608Gly) c.4384A>G (p.Arg1462Gly) c.5149A>G (p.Arg1717Gly) c.5338A>G (p.Arg1780Gly) c.5131A>G (p.Arg1711Gly) c.1834A>G (p.Arg612Gly) c.5335A>G (p.Arg1779Gly) c.1659A>G c.1846A>G (p.Arg616Gly) c.*5055A>G (n.*5055A>G) c.202A>G (p.Arg68Gly) c.745A>G (p.Arg249Gly) c.-98-6867A>G (n.-98-6867A>G) n.5408A>G n.5449A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43057057T>G | CA500144484 | BRCA1 | c.5269A>C (p.Arg1757=) c.5272A>C (p.Arg1758=) c.5146A>C (p.Arg1716=) c.5266A>C (p.Arg1756=) c.5194A>C (p.Arg1732=) c.1960A>C (p.Arg654=) c.1822A>C (p.Arg608=) c.4384A>C (p.Arg1462=) c.5149A>C (p.Arg1717=) c.5338A>C (p.Arg1780=) c.5131A>C (p.Arg1711=) c.1834A>C (p.Arg612=) c.5335A>C (p.Arg1779=) c.1659A>C c.1846A>C (p.Arg616=) c.*5055A>C (n.*5055A>C) c.202A>C (p.Arg68=) c.745A>C (p.Arg249=) c.-98-6867A>C (n.-98-6867A>C) n.5408A>C n.5449A>C | ClinVar dbSNP |
| 17 | g.43057057T= | CA2260766368 | BRCA1 | c.5269A= (p.Arg1757=) c.5272A= (p.Arg1758=) c.5146A= (p.Arg1716=) c.5266A= (p.Arg1756=) c.5194A= (p.Arg1732=) c.1960A= (p.Arg654=) c.1822A= (p.Arg608=) c.4384A= (p.Arg1462=) c.5149A= (p.Arg1717=) c.5338A= (p.Arg1780=) c.5131A= (p.Arg1711=) c.1834A= (p.Arg612=) c.5335A= (p.Arg1779=) c.1659A= c.1846A= (p.Arg616=) c.*5055A= (n.*5055A=) c.202A= (p.Arg68=) c.745A= (p.Arg249=) c.-98-6867A= (n.-98-6867A=) n.5408A= n.5449A= | |
| 17 | g.43057058_43057059del | CA2573054437 | BRCA1 | c.5268_5269del (p.Asp1756GlufsTer?) c.5271_5272del (p.Asp1757GlufsTer?) c.5145_5146del (p.Asp1715GlufsTer?) c.5265_5266del (p.Asp1755GlufsTer?) c.5193_5194del (p.Asp1731GlufsTer?) c.1959_1960del (p.Asp653GlufsTer?) c.1821_1822del (p.Asp607GlufsTer?) c.4383_4384del (p.Asp1461GlufsTer?) c.5148_5149del (p.Asp1716GlufsTer?) c.5337_5338del (p.Asp1779GlufsTer?) c.5130_5131del (p.Asp1710GlufsTer?) c.1833_1834del (p.Asp611GlufsTer?) c.5334_5335del (p.Asp1778GlufsTer?) c.1658_1659del c.1845_1846del (p.Asp615GlufsTer?) c.*5054_*5055del (n.*5054_*5055del) c.201_202del (p.Asp67GlufsTer?) c.744_745del (p.Asp248GlufsTer?) c.-98-6868_-98-6867del (n.-98-6868_-98-6867del) n.5407_5408del n.5448_5449del | ClinVar dbSNP |
| 17 | g.43057058G>A | CA500144489 | BRCA1 | c.5268C>T (p.Asp1756=) c.5271C>T (p.Asp1757=) c.5145C>T (p.Asp1715=) c.5265C>T (p.Asp1755=) c.5193C>T (p.Asp1731=) c.1959C>T (p.Asp653=) c.1821C>T (p.Asp607=) c.4383C>T (p.Asp1461=) c.5148C>T (p.Asp1716=) c.5337C>T (p.Asp1779=) c.5130C>T (p.Asp1710=) c.1833C>T (p.Asp611=) c.5334C>T (p.Asp1778=) c.1658C>T c.1845C>T (p.Asp615=) c.*5054C>T (n.*5054C>T) c.201C>T (p.Asp67=) c.744C>T (p.Asp248=) c.-98-6868C>T (n.-98-6868C>T) n.5407C>T n.5448C>T | ClinVar dbSNP gnomAD v4 |
| 17 | g.43057058G>C | CA10591011 | BRCA1 | c.5268C>G (p.Asp1756Glu) c.5271C>G (p.Asp1757Glu) c.5145C>G (p.Asp1715Glu) c.5265C>G (p.Asp1755Glu) c.5193C>G (p.Asp1731Glu) c.1959C>G (p.Asp653Glu) c.1821C>G (p.Asp607Glu) c.4383C>G (p.Asp1461Glu) c.5148C>G (p.Asp1716Glu) c.5337C>G (p.Asp1779Glu) c.5130C>G (p.Asp1710Glu) c.1833C>G (p.Asp611Glu) c.5334C>G (p.Asp1778Glu) c.1658C>G c.1845C>G (p.Asp615Glu) c.*5054C>G (n.*5054C>G) c.201C>G (p.Asp67Glu) c.744C>G (p.Asp248Glu) c.-98-6868C>G (n.-98-6868C>G) n.5407C>G n.5448C>G | ClinVar dbSNP |
| 17 | g.43057058G= | CA2260766369 | BRCA1 | c.5268C= (p.Asp1756=) c.5271C= (p.Asp1757=) c.5145C= (p.Asp1715=) c.5265C= (p.Asp1755=) c.5193C= (p.Asp1731=) c.1959C= (p.Asp653=) c.1821C= (p.Asp607=) c.4383C= (p.Asp1461=) c.5148C= (p.Asp1716=) c.5337C= (p.Asp1779=) c.5130C= (p.Asp1710=) c.1833C= (p.Asp611=) c.5334C= (p.Asp1778=) c.1658C= c.1845C= (p.Asp615=) c.*5054C= (n.*5054C=) c.201C= (p.Asp67=) c.744C= (p.Asp248=) c.-98-6868C= (n.-98-6868C=) n.5407C= n.5448C= | |
| 17 | g.43057058G>T | CA10591012 | BRCA1 | c.5268C>A (p.Asp1756Glu) c.5271C>A (p.Asp1757Glu) c.5145C>A (p.Asp1715Glu) c.5265C>A (p.Asp1755Glu) c.5193C>A (p.Asp1731Glu) c.1959C>A (p.Asp653Glu) c.1821C>A (p.Asp607Glu) c.4383C>A (p.Asp1461Glu) c.5148C>A (p.Asp1716Glu) c.5337C>A (p.Asp1779Glu) c.5130C>A (p.Asp1710Glu) c.1833C>A (p.Asp611Glu) c.5334C>A (p.Asp1778Glu) c.1658C>A c.1845C>A (p.Asp615Glu) c.*5054C>A (n.*5054C>A) c.201C>A (p.Asp67Glu) c.744C>A (p.Asp248Glu) c.-98-6868C>A (n.-98-6868C>A) n.5407C>A n.5448C>A | ClinVar dbSNP |
| 17 | g.43057058_43057061del | CA2586963903 | BRCA1 | c.5265_5268del (p.Asp1756GlufsTer7) c.5268_5271del (p.Asp1757GlufsTer7) c.5142_5145del (p.Asp1715GlufsTer7) c.5262_5265del (p.Asp1755GlufsTer7) c.5190_5193del (p.Asp1731GlufsTer7) c.1956_1959del (p.Asp653GlufsTer7) c.1818_1821del (p.Asp607GlufsTer7) c.4380_4383del (p.Asp1461GlufsTer7) c.5145_5148del (p.Asp1716GlufsTer7) c.5334_5337del (p.Asp1779GlufsTer7) c.5127_5130del (p.Asp1710GlufsTer7) c.1830_1833del (p.Asp611GlufsTer7) c.5331_5334del (p.Asp1778GlufsTer7) c.1655_1658del c.1842_1845del (p.Asp615GlufsTer7) c.*5051_*5054del (n.*5051_*5054del) c.198_201del (p.Asp67GlufsTer7) c.741_744del (p.Asp248GlufsTer7) c.-98-6871_-98-6868del (n.-98-6871_-98-6868del) n.5404_5407del n.5445_5448del | |
| 17 | g.43057059T>A | CA10591013 | BRCA1 | c.5267A>T (p.Asp1756Val) c.5270A>T (p.Asp1757Val) c.5144A>T (p.Asp1715Val) c.5264A>T (p.Asp1755Val) c.5192A>T (p.Asp1731Val) c.1958A>T (p.Asp653Val) c.1820A>T (p.Asp607Val) c.4382A>T (p.Asp1461Val) c.5147A>T (p.Asp1716Val) c.5336A>T (p.Asp1779Val) c.5129A>T (p.Asp1710Val) c.1832A>T (p.Asp611Val) c.5333A>T (p.Asp1778Val) c.1657A>T c.1844A>T (p.Asp615Val) c.*5053A>T (n.*5053A>T) c.200A>T (p.Asp67Val) c.743A>T (p.Asp248Val) c.-98-6869A>T (n.-98-6869A>T) n.5406A>T n.5447A>T | ClinVar dbSNP |
| 17 | g.43057059T>C | CA10591014 | BRCA1 | c.5267A>G (p.Asp1756Gly) c.5270A>G (p.Asp1757Gly) c.5144A>G (p.Asp1715Gly) c.5264A>G (p.Asp1755Gly) c.5192A>G (p.Asp1731Gly) c.1958A>G (p.Asp653Gly) c.1820A>G (p.Asp607Gly) c.4382A>G (p.Asp1461Gly) c.5147A>G (p.Asp1716Gly) c.5336A>G (p.Asp1779Gly) c.5129A>G (p.Asp1710Gly) c.1832A>G (p.Asp611Gly) c.5333A>G (p.Asp1778Gly) c.1657A>G c.1844A>G (p.Asp615Gly) c.*5053A>G (n.*5053A>G) c.200A>G (p.Asp67Gly) c.743A>G (p.Asp248Gly) c.-98-6869A>G (n.-98-6869A>G) n.5406A>G n.5447A>G | ClinVar dbSNP |
| 17 | g.43057059T>G | CA10591015 | BRCA1 | c.5267A>C (p.Asp1756Ala) c.5270A>C (p.Asp1757Ala) c.5144A>C (p.Asp1715Ala) c.5264A>C (p.Asp1755Ala) c.5192A>C (p.Asp1731Ala) c.1958A>C (p.Asp653Ala) c.1820A>C (p.Asp607Ala) c.4382A>C (p.Asp1461Ala) c.5147A>C (p.Asp1716Ala) c.5336A>C (p.Asp1779Ala) c.5129A>C (p.Asp1710Ala) c.1832A>C (p.Asp611Ala) c.5333A>C (p.Asp1778Ala) c.1657A>C c.1844A>C (p.Asp615Ala) c.*5053A>C (n.*5053A>C) c.200A>C (p.Asp67Ala) c.743A>C (p.Asp248Ala) c.-98-6869A>C (n.-98-6869A>C) n.5406A>C n.5447A>C | ClinVar dbSNP |
| 17 | g.43057059T= | CA2260766370 | BRCA1 | c.5267A= (p.Asp1756=) c.5270A= (p.Asp1757=) c.5144A= (p.Asp1715=) c.5264A= (p.Asp1755=) c.5192A= (p.Asp1731=) c.1958A= (p.Asp653=) c.1820A= (p.Asp607=) c.4382A= (p.Asp1461=) c.5147A= (p.Asp1716=) c.5336A= (p.Asp1779=) c.5129A= (p.Asp1710=) c.1832A= (p.Asp611=) c.5333A= (p.Asp1778=) c.1657A= c.1844A= (p.Asp615=) c.*5053A= (n.*5053A=) c.200A= (p.Asp67=) c.743A= (p.Asp248=) c.-98-6869A= (n.-98-6869A=) n.5406A= n.5447A= | |
| 17 | g.43057059_43057060insG | CA658824711 | BRCA1 | c.5266_5267insC (p.Asp1756AlafsTer?) c.5269_5270insC (p.Asp1757AlafsTer?) c.5143_5144insC (p.Asp1715AlafsTer?) c.5263_5264insC (p.Asp1755AlafsTer?) c.5191_5192insC (p.Asp1731AlafsTer?) c.1957_1958insC (p.Asp653AlafsTer?) c.1819_1820insC (p.Asp607AlafsTer?) c.4381_4382insC (p.Asp1461AlafsTer?) c.5146_5147insC (p.Asp1716AlafsTer?) c.5335_5336insC (p.Asp1779AlafsTer?) c.5128_5129insC (p.Asp1710AlafsTer?) c.1831_1832insC (p.Asp611AlafsTer?) c.5332_5333insC (p.Asp1778AlafsTer?) c.1656_1657insC c.1843_1844insC (p.Asp615AlafsTer?) c.*5052_*5053insC (n.*5052_*5053insC) c.199_200insC (p.Asp67AlafsTer?) c.742_743insC (p.Asp248AlafsTer?) c.-98-6870_-98-6869insC (n.-98-6870_-98-6869insC) n.5405_5406insC n.5446_5447insC | ClinVar dbSNP |