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.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.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.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.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.43057080_43057120delinsTTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCT | CA2260766396 | BRCA1 | c.5206_5246delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1736=) c.5209_5249delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1737=) c.5083_5123delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1695=) c.5203_5243delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1735=) c.5131_5171delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1711=) c.1897_1937delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg633=) c.1759_1799delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg587=) c.4321_4361delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1441=) c.5086_5126delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1696=) c.5275_5315delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1759=) c.5068_5108delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1690=) c.1771_1811delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg591=) c.5272_5312delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg1758=) c.1596_1636delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA c.1783_1823delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg595=) c.*4992_*5032delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (n.*4992_*5032delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA) c.139_179delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg47=) c.682_722delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (p.Arg228=) c.-98-6930_-98-6890delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA (n.-98-6930_-98-6890delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA) n.5345_5385delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA n.5386_5426delinsAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAAA | |
| 17 | g.43057081_43057120delinsGA | CA003359 | BRCA1 | c.5206_5245delinsTC (p.Arg1736SerfsTer?) c.5209_5248delinsTC (p.Arg1737SerfsTer?) c.5083_5122delinsTC (p.Arg1695SerfsTer?) c.5203_5242delinsTC (p.Arg1735SerfsTer?) c.5131_5170delinsTC (p.Arg1711SerfsTer?) c.1897_1936delinsTC (p.Arg633SerfsTer?) c.1759_1798delinsTC (p.Arg587SerfsTer?) c.4321_4360delinsTC (p.Arg1441SerfsTer?) c.5086_5125delinsTC (p.Arg1696SerfsTer?) c.5275_5314delinsTC (p.Arg1759SerfsTer?) c.5068_5107delinsTC (p.Arg1690SerfsTer?) c.1771_1810delinsTC (p.Arg591SerfsTer?) c.5272_5311delinsTC (p.Arg1758SerfsTer?) c.1596_1635delinsTC c.1783_1822delinsTC (p.Arg595SerfsTer?) c.*4992_*5031delinsTC (n.*4992_*5031delinsTC) c.139_178delinsTC (p.Arg47SerfsTer?) c.682_721delinsTC (p.Arg228SerfsTer?) c.-98-6930_-98-6891delinsTC (n.-98-6930_-98-6891delinsTC) n.5345_5384delinsTC n.5386_5425delinsTC | ClinVar dbSNP |
| 17 | g.43057081_43057121delinsTTGGACCTTGGTGGTTTCTTCCATTGACCACATCTCCTCTG | CA2260766399 | BRCA1 | c.5205_5245delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1735=) c.5208_5248delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1736=) c.5082_5122delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1694=) c.5202_5242delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1734=) c.5130_5170delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1710=) c.1896_1936delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val632=) c.1758_1798delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val586=) c.4320_4360delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1440=) c.5085_5125delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1695=) c.5274_5314delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1758=) c.5067_5107delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1689=) c.1770_1810delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val590=) c.5271_5311delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val1757=) c.1595_1635delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA c.1782_1822delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val594=) c.*4991_*5031delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (n.*4991_*5031delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA) c.138_178delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val46=) c.681_721delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (p.Val227=) c.-98-6931_-98-6891delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA (n.-98-6931_-98-6891delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA) n.5344_5384delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA n.5385_5425delinsCAGAGGAGATGTGGTCAATGGAAGAAACCACCAAGGTCCAA | |
| 17 | g.43057082_43057121delinsGA | CA10589604 | BRCA1 | c.5205_5244delinsTC (p.Arg1736GlnfsTer?) c.5208_5247delinsTC (p.Arg1737GlnfsTer?) c.5082_5121delinsTC (p.Arg1695GlnfsTer?) c.5202_5241delinsTC (p.Arg1735GlnfsTer?) c.5130_5169delinsTC (p.Arg1711GlnfsTer?) c.1896_1935delinsTC (p.Arg633GlnfsTer?) c.1758_1797delinsTC (p.Arg587GlnfsTer?) c.4320_4359delinsTC (p.Arg1441GlnfsTer?) c.5085_5124delinsTC (p.Arg1696GlnfsTer?) c.5274_5313delinsTC (p.Arg1759GlnfsTer?) c.5067_5106delinsTC (p.Arg1690GlnfsTer?) c.1770_1809delinsTC (p.Arg591GlnfsTer?) c.5271_5310delinsTC (p.Arg1758GlnfsTer?) c.1595_1634delinsTC c.1782_1821delinsTC (p.Arg595GlnfsTer?) c.*4991_*5030delinsTC (n.*4991_*5030delinsTC) c.138_177delinsTC (p.Arg47GlnfsTer?) c.681_720delinsTC (p.Arg228GlnfsTer?) c.-98-6931_-98-6892delinsTC (n.-98-6931_-98-6892delinsTC) n.5344_5383delinsTC n.5385_5424delinsTC | ClinVar dbSNP |
| 17 | g.43057086_43057120del | CA2740089957 | BRCA1 | c.5206_5240del (p.Arg1736SerfsTer?) c.5209_5243del (p.Arg1737SerfsTer?) c.5083_5117del (p.Arg1695SerfsTer?) c.5203_5237del (p.Arg1735SerfsTer?) c.5131_5165del (p.Arg1711SerfsTer?) c.1897_1931del (p.Arg633SerfsTer?) c.1759_1793del (p.Arg587SerfsTer?) c.4321_4355del (p.Arg1441SerfsTer?) c.5086_5120del (p.Arg1696SerfsTer?) c.5275_5309del (p.Arg1759SerfsTer?) c.5068_5102del (p.Arg1690SerfsTer?) c.1771_1805del (p.Arg591SerfsTer?) c.5272_5306del (p.Arg1758SerfsTer?) c.1596_1630del c.1783_1817del (p.Arg595SerfsTer?) c.*4992_*5026del (n.*4992_*5026del) c.139_173del (p.Arg47SerfsTer?) c.682_716del (p.Arg228SerfsTer?) c.-98-6930_-98-6896del (n.-98-6930_-98-6896del) n.5345_5379del n.5386_5420del | |
| 17 | g.43057093_43057145dup | CA658684094 | BRCA1 | c.5191-10_5233dup c.5194-10_5236dup c.5068-10_5110dup c.5188-10_5230dup c.5116-10_5158dup c.1882-10_1924dup c.1744-10_1786dup c.4306-10_4348dup c.5071-10_5113dup c.5260-10_5302dup c.5053-10_5095dup c.1756-10_1798dup c.5257-10_5299dup c.1581-10_1623dup c.1768-10_1810dup c.*4977-10_*5019dup c.124-10_166dup c.667-10_709dup c.-98-6955_-98-6903dup (n.-98-6955_-98-6903dup) n.5330-10_5372dup n.5371-10_5413dup | ClinVar dbSNP |
| 17 | g.43057112_43057113delinsAT | CA2260766444 | BRCA1 | c.5213_5214delinsAT (p.Asp1738=) c.5216_5217delinsAT (p.Asp1739=) c.5090_5091delinsAT (p.Asp1697=) c.5210_5211delinsAT (p.Asp1737=) c.5138_5139delinsAT (p.Asp1713=) c.1904_1905delinsAT (p.Asp635=) c.1766_1767delinsAT (p.Asp589=) c.4328_4329delinsAT (p.Asp1443=) c.5093_5094delinsAT (p.Asp1698=) c.5282_5283delinsAT (p.Asp1761=) c.5075_5076delinsAT (p.Asp1692=) c.1778_1779delinsAT (p.Asp593=) c.5279_5280delinsAT (p.Asp1760=) c.1603_1604delinsAT c.1790_1791delinsAT (p.Asp597=) c.*4999_*5000delinsAT (n.*4999_*5000delinsAT) c.146_147delinsAT (p.Asp49=) c.689_690delinsAT (p.Asp230=) c.-98-6923_-98-6922delinsAT (n.-98-6923_-98-6922delinsAT) n.5352_5353delinsAT n.5393_5394delinsAT | |
| 17 | g.43057112_43057114delinsATC | CA2260766445 | BRCA1 | c.5212_5214delinsGAT (p.Asp1738=) c.5215_5217delinsGAT (p.Asp1739=) c.5089_5091delinsGAT (p.Asp1697=) c.5209_5211delinsGAT (p.Asp1737=) c.5137_5139delinsGAT (p.Asp1713=) c.1903_1905delinsGAT (p.Asp635=) c.1765_1767delinsGAT (p.Asp589=) c.4327_4329delinsGAT (p.Asp1443=) c.5092_5094delinsGAT (p.Asp1698=) c.5281_5283delinsGAT (p.Asp1761=) c.5074_5076delinsGAT (p.Asp1692=) c.1777_1779delinsGAT (p.Asp593=) c.5278_5280delinsGAT (p.Asp1760=) c.1602_1604delinsGAT c.1789_1791delinsGAT (p.Asp597=) c.*4998_*5000delinsGAT (n.*4998_*5000delinsGAT) c.145_147delinsGAT (p.Asp49=) c.688_690delinsGAT (p.Asp230=) c.-98-6924_-98-6922delinsGAT (n.-98-6924_-98-6922delinsGAT) n.5351_5353delinsGAT n.5392_5394delinsGAT | |
| 17 | g.43057113del | CA916081182 | BRCA1 | c.5213del (p.Asp1738ValfsTer26) c.5216del (p.Asp1739ValfsTer26) c.5090del (p.Asp1697ValfsTer26) c.5210del (p.Asp1737ValfsTer26) c.5138del (p.Asp1713ValfsTer26) c.1904del (p.Asp635ValfsTer26) c.1766del (p.Asp589ValfsTer26) c.4328del (p.Asp1443ValfsTer26) c.5093del (p.Asp1698ValfsTer26) c.5282del (p.Asp1761ValfsTer26) c.5075del (p.Asp1692ValfsTer26) c.1778del (p.Asp593ValfsTer26) c.5279del (p.Asp1760ValfsTer26) c.1603del c.1790del (p.Asp597ValfsTer26) c.*4999del (n.*4999del) c.146del (p.Asp49ValfsTer26) c.689del (p.Asp230ValfsTer26) c.-98-6923del (n.-98-6923del) n.5352del n.5393del | ClinVar dbSNP |
| 17 | g.43057113T>A | CA003368 | BRCA1 | c.5213A>T (p.Asp1738Val) c.5216A>T (p.Asp1739Val) c.5090A>T (p.Asp1697Val) c.5210A>T (p.Asp1737Val) c.5138A>T (p.Asp1713Val) c.1904A>T (p.Asp635Val) c.1766A>T (p.Asp589Val) c.4328A>T (p.Asp1443Val) c.5093A>T (p.Asp1698Val) c.5282A>T (p.Asp1761Val) c.5075A>T (p.Asp1692Val) c.1778A>T (p.Asp593Val) c.5279A>T (p.Asp1760Val) c.1603A>T c.1790A>T (p.Asp597Val) c.*4999A>T (n.*4999A>T) c.146A>T (p.Asp49Val) c.689A>T (p.Asp230Val) c.-98-6923A>T (n.-98-6923A>T) n.5352A>T n.5393A>T | ClinVar dbSNP COSMIC COSMIC |
| 17 | g.43057113T>C | CA003367 | BRCA1 | c.5213A>G (p.Asp1738Gly) c.5216A>G (p.Asp1739Gly) c.5090A>G (p.Asp1697Gly) c.5210A>G (p.Asp1737Gly) c.5138A>G (p.Asp1713Gly) c.1904A>G (p.Asp635Gly) c.1766A>G (p.Asp589Gly) c.4328A>G (p.Asp1443Gly) c.5093A>G (p.Asp1698Gly) c.5282A>G (p.Asp1761Gly) c.5075A>G (p.Asp1692Gly) c.1778A>G (p.Asp593Gly) c.5279A>G (p.Asp1760Gly) c.1603A>G c.1790A>G (p.Asp597Gly) c.*4999A>G (n.*4999A>G) c.146A>G (p.Asp49Gly) c.689A>G (p.Asp230Gly) c.-98-6923A>G (n.-98-6923A>G) n.5352A>G n.5393A>G | ClinVar dbSNP gnomAD v4 |
| 17 | g.43057113T>G | CA10591109 | BRCA1 | c.5213A>C (p.Asp1738Ala) c.5216A>C (p.Asp1739Ala) c.5090A>C (p.Asp1697Ala) c.5210A>C (p.Asp1737Ala) c.5138A>C (p.Asp1713Ala) c.1904A>C (p.Asp635Ala) c.1766A>C (p.Asp589Ala) c.4328A>C (p.Asp1443Ala) c.5093A>C (p.Asp1698Ala) c.5282A>C (p.Asp1761Ala) c.5075A>C (p.Asp1692Ala) c.1778A>C (p.Asp593Ala) c.5279A>C (p.Asp1760Ala) c.1603A>C c.1790A>C (p.Asp597Ala) c.*4999A>C (n.*4999A>C) c.146A>C (p.Asp49Ala) c.689A>C (p.Asp230Ala) c.-98-6923A>C (n.-98-6923A>C) n.5352A>C n.5393A>C | ClinVar dbSNP |
| 17 | g.43057113T= | CA2260766447 | BRCA1 | c.5213A= (p.Asp1738=) c.5216A= (p.Asp1739=) c.5090A= (p.Asp1697=) c.5210A= (p.Asp1737=) c.5138A= (p.Asp1713=) c.1904A= (p.Asp635=) c.1766A= (p.Asp589=) c.4328A= (p.Asp1443=) c.5093A= (p.Asp1698=) c.5282A= (p.Asp1761=) c.5075A= (p.Asp1692=) c.1778A= (p.Asp593=) c.5279A= (p.Asp1760=) c.1603A= c.1790A= (p.Asp597=) c.*4999A= (n.*4999A=) c.146A= (p.Asp49=) c.689A= (p.Asp230=) c.-98-6923A= (n.-98-6923A=) n.5352A= n.5393A= | |
| 17 | g.43057113_43057116delinsTCTC | CA2260766448 | BRCA1 | c.5210_5213delinsGAGA (p.Gly1737=) c.5213_5216delinsGAGA (p.Gly1738=) c.5087_5090delinsGAGA (p.Gly1696=) c.5207_5210delinsGAGA (p.Gly1736=) c.5135_5138delinsGAGA (p.Gly1712=) c.1901_1904delinsGAGA (p.Gly634=) c.1763_1766delinsGAGA (p.Gly588=) c.4325_4328delinsGAGA (p.Gly1442=) c.5090_5093delinsGAGA (p.Gly1697=) c.5279_5282delinsGAGA (p.Gly1760=) c.5072_5075delinsGAGA (p.Gly1691=) c.1775_1778delinsGAGA (p.Gly592=) c.5276_5279delinsGAGA (p.Gly1759=) c.1600_1603delinsGAGA c.1787_1790delinsGAGA (p.Gly596=) c.*4996_*4999delinsGAGA (n.*4996_*4999delinsGAGA) c.143_146delinsGAGA (p.Gly48=) c.686_689delinsGAGA (p.Gly229=) c.-98-6926_-98-6923delinsGAGA (n.-98-6926_-98-6923delinsGAGA) n.5349_5352delinsGAGA n.5390_5393delinsGAGA | |
| 17 | g.43057115_43057116del | CA16620421 | BRCA1 | c.5212_5213del (p.Asp1738CysfsTer?) c.5215_5216del (p.Asp1739CysfsTer?) c.5089_5090del (p.Asp1697CysfsTer?) c.5209_5210del (p.Asp1737CysfsTer?) c.5137_5138del (p.Asp1713CysfsTer?) c.1903_1904del (p.Asp635CysfsTer?) c.1765_1766del (p.Asp589CysfsTer?) c.4327_4328del (p.Asp1443CysfsTer?) c.5092_5093del (p.Asp1698CysfsTer?) c.5281_5282del (p.Asp1761CysfsTer?) c.5074_5075del (p.Asp1692CysfsTer?) c.1777_1778del (p.Asp593CysfsTer?) c.5278_5279del (p.Asp1760CysfsTer?) c.1602_1603del c.1789_1790del (p.Asp597CysfsTer?) c.*4998_*4999del (n.*4998_*4999del) c.145_146del (p.Asp49CysfsTer?) c.688_689del (p.Asp230CysfsTer?) c.-98-6924_-98-6923del (n.-98-6924_-98-6923del) n.5351_5352del n.5392_5393del | ClinVar dbSNP |
| 17 | g.43057114C>A | CA003366 | BRCA1 | c.5212G>T (p.Asp1738Tyr) c.5215G>T (p.Asp1739Tyr) c.5089G>T (p.Asp1697Tyr) c.5209G>T (p.Asp1737Tyr) c.5137G>T (p.Asp1713Tyr) c.1903G>T (p.Asp635Tyr) c.1765G>T (p.Asp589Tyr) c.4327G>T (p.Asp1443Tyr) c.5092G>T (p.Asp1698Tyr) c.5281G>T (p.Asp1761Tyr) c.5074G>T (p.Asp1692Tyr) c.1777G>T (p.Asp593Tyr) c.5278G>T (p.Asp1760Tyr) c.1602G>T c.1789G>T (p.Asp597Tyr) c.*4998G>T (n.*4998G>T) c.145G>T (p.Asp49Tyr) c.688G>T (p.Asp230Tyr) c.-98-6924G>T (n.-98-6924G>T) n.5351G>T n.5392G>T | ClinVar dbSNP |
| 17 | g.43057114C= | CA2260766449 | BRCA1 | c.5212G= (p.Asp1738=) c.5215G= (p.Asp1739=) c.5089G= (p.Asp1697=) c.5209G= (p.Asp1737=) c.5137G= (p.Asp1713=) c.1903G= (p.Asp635=) c.1765G= (p.Asp589=) c.4327G= (p.Asp1443=) c.5092G= (p.Asp1698=) c.5281G= (p.Asp1761=) c.5074G= (p.Asp1692=) c.1777G= (p.Asp593=) c.5278G= (p.Asp1760=) c.1602G= c.1789G= (p.Asp597=) c.*4998G= (n.*4998G=) c.145G= (p.Asp49=) c.688G= (p.Asp230=) c.-98-6924G= (n.-98-6924G=) n.5351G= n.5392G= | |
| 17 | g.43057114C>G | CA10591110 | BRCA1 | c.5212G>C (p.Asp1738His) c.5215G>C (p.Asp1739His) c.5089G>C (p.Asp1697His) c.5209G>C (p.Asp1737His) c.5137G>C (p.Asp1713His) c.1903G>C (p.Asp635His) c.1765G>C (p.Asp589His) c.4327G>C (p.Asp1443His) c.5092G>C (p.Asp1698His) c.5281G>C (p.Asp1761His) c.5074G>C (p.Asp1692His) c.1777G>C (p.Asp593His) c.5278G>C (p.Asp1760His) c.1602G>C c.1789G>C (p.Asp597His) c.*4998G>C (n.*4998G>C) c.145G>C (p.Asp49His) c.688G>C (p.Asp230His) c.-98-6924G>C (n.-98-6924G>C) n.5351G>C n.5392G>C | ClinVar dbSNP |
| 17 | g.43057114C>T | CA10591111 | BRCA1 | c.5212G>A (p.Asp1738Asn) c.5215G>A (p.Asp1739Asn) c.5089G>A (p.Asp1697Asn) c.5209G>A (p.Asp1737Asn) c.5137G>A (p.Asp1713Asn) c.1903G>A (p.Asp635Asn) c.1765G>A (p.Asp589Asn) c.4327G>A (p.Asp1443Asn) c.5092G>A (p.Asp1698Asn) c.5281G>A (p.Asp1761Asn) c.5074G>A (p.Asp1692Asn) c.1777G>A (p.Asp593Asn) c.5278G>A (p.Asp1760Asn) c.1602G>A c.1789G>A (p.Asp597Asn) c.*4998G>A (n.*4998G>A) c.145G>A (p.Asp49Asn) c.688G>A (p.Asp230Asn) c.-98-6924G>A (n.-98-6924G>A) n.5351G>A n.5392G>A | ClinVar dbSNP gnomAD v4 |
| 17 | g.43057117_43057119del | CA003364 | BRCA1 | c.5210_5212del (p.Gly1737del) c.5213_5215del (p.Gly1738del) c.5087_5089del (p.Gly1696del) c.5207_5209del (p.Gly1736del) c.5135_5137del (p.Gly1712del) c.1901_1903del (p.Gly634del) c.1763_1765del (p.Gly588del) c.4325_4327del (p.Gly1442del) c.5090_5092del (p.Gly1697del) c.5279_5281del (p.Gly1760del) c.5072_5074del (p.Gly1691del) c.1775_1777del (p.Gly592del) c.5276_5278del (p.Gly1759del) c.1600_1602del c.1787_1789del (p.Gly596del) c.*4996_*4998del (n.*4996_*4998del) c.143_145del (p.Gly48del) c.686_688del (p.Gly229del) c.-98-6926_-98-6924del (n.-98-6926_-98-6924del) n.5349_5351del n.5390_5392del | ClinVar dbSNP |
| 17 | g.43057115del | CA2695226114 | BRCA1 | c.5211del (p.Asp1738MetfsTer26) c.5214del (p.Asp1739MetfsTer26) c.5088del (p.Asp1697MetfsTer26) c.5208del (p.Asp1737MetfsTer26) c.5136del (p.Asp1713MetfsTer26) c.1902del (p.Asp635MetfsTer26) c.1764del (p.Asp589MetfsTer26) c.4326del (p.Asp1443MetfsTer26) c.5091del (p.Asp1698MetfsTer26) c.5280del (p.Asp1761MetfsTer26) c.5073del (p.Asp1692MetfsTer26) c.1776del (p.Asp593MetfsTer26) c.5277del (p.Asp1760MetfsTer26) c.1601del c.1788del (p.Asp597MetfsTer26) c.*4997del (n.*4997del) c.144del (p.Asp49MetfsTer26) c.687del (p.Asp230MetfsTer26) c.-98-6925del (n.-98-6925del) n.5350del n.5391del | |
| 17 | g.43057115T>A | CA500144807 | BRCA1 | c.5211A>T (p.Gly1737=) c.5214A>T (p.Gly1738=) c.5088A>T (p.Gly1696=) c.5208A>T (p.Gly1736=) c.5136A>T (p.Gly1712=) c.1902A>T (p.Gly634=) c.1764A>T (p.Gly588=) c.4326A>T (p.Gly1442=) c.5091A>T (p.Gly1697=) c.5280A>T (p.Gly1760=) c.5073A>T (p.Gly1691=) c.1776A>T (p.Gly592=) c.5277A>T (p.Gly1759=) c.1601A>T c.1788A>T (p.Gly596=) c.*4997A>T (n.*4997A>T) c.144A>T (p.Gly48=) c.687A>T (p.Gly229=) c.-98-6925A>T (n.-98-6925A>T) n.5350A>T n.5391A>T | ClinVar dbSNP |
| 17 | g.43057115T>C | CA500144809 | BRCA1 | c.5211A>G (p.Gly1737=) c.5214A>G (p.Gly1738=) c.5088A>G (p.Gly1696=) c.5208A>G (p.Gly1736=) c.5136A>G (p.Gly1712=) c.1902A>G (p.Gly634=) c.1764A>G (p.Gly588=) c.4326A>G (p.Gly1442=) c.5091A>G (p.Gly1697=) c.5280A>G (p.Gly1760=) c.5073A>G (p.Gly1691=) c.1776A>G (p.Gly592=) c.5277A>G (p.Gly1759=) c.1601A>G c.1788A>G (p.Gly596=) c.*4997A>G (n.*4997A>G) c.144A>G (p.Gly48=) c.687A>G (p.Gly229=) c.-98-6925A>G (n.-98-6925A>G) n.5350A>G n.5391A>G | ClinVar dbSNP |
| 17 | g.43057115T>G | CA500144811 | BRCA1 | c.5211A>C (p.Gly1737=) c.5214A>C (p.Gly1738=) c.5088A>C (p.Gly1696=) c.5208A>C (p.Gly1736=) c.5136A>C (p.Gly1712=) c.1902A>C (p.Gly634=) c.1764A>C (p.Gly588=) c.4326A>C (p.Gly1442=) c.5091A>C (p.Gly1697=) c.5280A>C (p.Gly1760=) c.5073A>C (p.Gly1691=) c.1776A>C (p.Gly592=) c.5277A>C (p.Gly1759=) c.1601A>C c.1788A>C (p.Gly596=) c.*4997A>C (n.*4997A>C) c.144A>C (p.Gly48=) c.687A>C (p.Gly229=) c.-98-6925A>C (n.-98-6925A>C) n.5350A>C n.5391A>C | ClinVar dbSNP |
| 17 | g.43057115T= | CA2260766451 | BRCA1 | c.5211A= (p.Gly1737=) c.5214A= (p.Gly1738=) c.5088A= (p.Gly1696=) c.5208A= (p.Gly1736=) c.5136A= (p.Gly1712=) c.1902A= (p.Gly634=) c.1764A= (p.Gly588=) c.4326A= (p.Gly1442=) c.5091A= (p.Gly1697=) c.5280A= (p.Gly1760=) c.5073A= (p.Gly1691=) c.1776A= (p.Gly592=) c.5277A= (p.Gly1759=) c.1601A= c.1788A= (p.Gly596=) c.*4997A= (n.*4997A=) c.144A= (p.Gly48=) c.687A= (p.Gly229=) c.-98-6925A= (n.-98-6925A=) n.5350A= n.5391A= | |
| 17 | g.43057115_43057116delinsTC | CA2260766450 | BRCA1 | c.5210_5211delinsGA (p.Gly1737=) c.5213_5214delinsGA (p.Gly1738=) c.5087_5088delinsGA (p.Gly1696=) c.5207_5208delinsGA (p.Gly1736=) c.5135_5136delinsGA (p.Gly1712=) c.1901_1902delinsGA (p.Gly634=) c.1763_1764delinsGA (p.Gly588=) c.4325_4326delinsGA (p.Gly1442=) c.5090_5091delinsGA (p.Gly1697=) c.5279_5280delinsGA (p.Gly1760=) c.5072_5073delinsGA (p.Gly1691=) c.1775_1776delinsGA (p.Gly592=) c.5276_5277delinsGA (p.Gly1759=) c.1600_1601delinsGA c.1787_1788delinsGA (p.Gly596=) c.*4996_*4997delinsGA (n.*4996_*4997delinsGA) c.143_144delinsGA (p.Gly48=) c.686_687delinsGA (p.Gly229=) c.-98-6926_-98-6925delinsGA (n.-98-6926_-98-6925delinsGA) n.5349_5350delinsGA n.5390_5391delinsGA | |
| 17 | g.43057116C>A | CA10591112 | BRCA1 | c.5210G>T (p.Gly1737Val) c.5213G>T (p.Gly1738Val) c.5087G>T (p.Gly1696Val) c.5207G>T (p.Gly1736Val) c.5135G>T (p.Gly1712Val) c.1901G>T (p.Gly634Val) c.1763G>T (p.Gly588Val) c.4325G>T (p.Gly1442Val) c.5090G>T (p.Gly1697Val) c.5279G>T (p.Gly1760Val) c.5072G>T (p.Gly1691Val) c.1775G>T (p.Gly592Val) c.5276G>T (p.Gly1759Val) c.1600G>T c.1787G>T (p.Gly596Val) c.*4996G>T (n.*4996G>T) c.143G>T (p.Gly48Val) c.686G>T (p.Gly229Val) c.-98-6926G>T (n.-98-6926G>T) n.5349G>T n.5390G>T | ClinVar dbSNP |
| 17 | g.43057116C= | CA2260766452 | BRCA1 | c.5210G= (p.Gly1737=) c.5213G= (p.Gly1738=) c.5087G= (p.Gly1696=) c.5207G= (p.Gly1736=) c.5135G= (p.Gly1712=) c.1901G= (p.Gly634=) c.1763G= (p.Gly588=) c.4325G= (p.Gly1442=) c.5090G= (p.Gly1697=) c.5279G= (p.Gly1760=) c.5072G= (p.Gly1691=) c.1775G= (p.Gly592=) c.5276G= (p.Gly1759=) c.1600G= c.1787G= (p.Gly596=) c.*4996G= (n.*4996G=) c.143G= (p.Gly48=) c.686G= (p.Gly229=) c.-98-6926G= (n.-98-6926G=) n.5349G= n.5390G= | |
| 17 | g.43057116C>G | CA10591113 | BRCA1 | c.5210G>C (p.Gly1737Ala) c.5213G>C (p.Gly1738Ala) c.5087G>C (p.Gly1696Ala) c.5207G>C (p.Gly1736Ala) c.5135G>C (p.Gly1712Ala) c.1901G>C (p.Gly634Ala) c.1763G>C (p.Gly588Ala) c.4325G>C (p.Gly1442Ala) c.5090G>C (p.Gly1697Ala) c.5279G>C (p.Gly1760Ala) c.5072G>C (p.Gly1691Ala) c.1775G>C (p.Gly592Ala) c.5276G>C (p.Gly1759Ala) c.1600G>C c.1787G>C (p.Gly596Ala) c.*4996G>C (n.*4996G>C) c.143G>C (p.Gly48Ala) c.686G>C (p.Gly229Ala) c.-98-6926G>C (n.-98-6926G>C) n.5349G>C n.5390G>C | ClinVar dbSNP |
| 17 | g.43057116C>T | CA003365 | BRCA1 | c.5210G>A (p.Gly1737Glu) c.5213G>A (p.Gly1738Glu) c.5087G>A (p.Gly1696Glu) c.5207G>A (p.Gly1736Glu) c.5135G>A (p.Gly1712Glu) c.1901G>A (p.Gly634Glu) c.1763G>A (p.Gly588Glu) c.4325G>A (p.Gly1442Glu) c.5090G>A (p.Gly1697Glu) c.5279G>A (p.Gly1760Glu) c.5072G>A (p.Gly1691Glu) c.1775G>A (p.Gly592Glu) c.5276G>A (p.Gly1759Glu) c.1600G>A c.1787G>A (p.Gly596Glu) c.*4996G>A (n.*4996G>A) c.143G>A (p.Gly48Glu) c.686G>A (p.Gly229Glu) c.-98-6926G>A (n.-98-6926G>A) n.5349G>A n.5390G>A | ClinVar dbSNP |
| 17 | g.43057117del | CA10589609 | BRCA1 | c.5210del (p.Gly1737GlufsTer27) c.5213del (p.Gly1738GlufsTer27) c.5087del (p.Gly1696GlufsTer27) c.5207del (p.Gly1736GlufsTer27) c.5135del (p.Gly1712GlufsTer27) c.1901del (p.Gly634GlufsTer27) c.1763del (p.Gly588GlufsTer27) c.4325del (p.Gly1442GlufsTer27) c.5090del (p.Gly1697GlufsTer27) c.5279del (p.Gly1760GlufsTer27) c.5072del (p.Gly1691GlufsTer27) c.1775del (p.Gly592GlufsTer27) c.5276del (p.Gly1759GlufsTer27) c.1600del c.1787del (p.Gly596GlufsTer27) c.*4996del (n.*4996del) c.143del (p.Gly48GlufsTer27) c.686del (p.Gly229GlufsTer27) c.-98-6926del (n.-98-6926del) n.5349del n.5390del | ClinVar dbSNP |
| 17 | g.43057116_43057118delinsCCT | CA2260766453 | BRCA1 | c.5208_5210delinsAGG (p.Arg1736=) c.5211_5213delinsAGG (p.Arg1737=) c.5085_5087delinsAGG (p.Arg1695=) c.5205_5207delinsAGG (p.Arg1735=) c.5133_5135delinsAGG (p.Arg1711=) c.1899_1901delinsAGG (p.Arg633=) c.1761_1763delinsAGG (p.Arg587=) c.4323_4325delinsAGG (p.Arg1441=) c.5088_5090delinsAGG (p.Arg1696=) c.5277_5279delinsAGG (p.Arg1759=) c.5070_5072delinsAGG (p.Arg1690=) c.1773_1775delinsAGG (p.Arg591=) c.5274_5276delinsAGG (p.Arg1758=) c.1598_1600delinsAGG c.1785_1787delinsAGG (p.Arg595=) c.*4994_*4996delinsAGG (n.*4994_*4996delinsAGG) c.141_143delinsAGG (p.Arg47=) c.684_686delinsAGG (p.Arg228=) c.-98-6928_-98-6926delinsAGG (n.-98-6928_-98-6926delinsAGG) n.5347_5349delinsAGG n.5388_5390delinsAGG | |
| 17 | g.43057117C>A | CA10589610 | BRCA1 | c.5209G>T (p.Gly1737Ter) c.5212G>T (p.Gly1738Ter) c.5086G>T (p.Gly1696Ter) c.5206G>T (p.Gly1736Ter) c.5134G>T (p.Gly1712Ter) c.1900G>T (p.Gly634Ter) c.1762G>T (p.Gly588Ter) c.4324G>T (p.Gly1442Ter) c.5089G>T (p.Gly1697Ter) c.5278G>T (p.Gly1760Ter) c.5071G>T (p.Gly1691Ter) c.1774G>T (p.Gly592Ter) c.5275G>T (p.Gly1759Ter) c.1599G>T c.1786G>T (p.Gly596Ter) c.*4995G>T (n.*4995G>T) c.142G>T (p.Gly48Ter) c.685G>T (p.Gly229Ter) c.-98-6927G>T (n.-98-6927G>T) n.5348G>T n.5389G>T | ClinVar dbSNP |
| 17 | g.43057117C= | CA2260766454 | BRCA1 | c.5209G= (p.Gly1737=) c.5212G= (p.Gly1738=) c.5086G= (p.Gly1696=) c.5206G= (p.Gly1736=) c.5134G= (p.Gly1712=) c.1900G= (p.Gly634=) c.1762G= (p.Gly588=) c.4324G= (p.Gly1442=) c.5089G= (p.Gly1697=) c.5278G= (p.Gly1760=) c.5071G= (p.Gly1691=) c.1774G= (p.Gly592=) c.5275G= (p.Gly1759=) c.1599G= c.1786G= (p.Gly596=) c.*4995G= (n.*4995G=) c.142G= (p.Gly48=) c.685G= (p.Gly229=) c.-98-6927G= (n.-98-6927G=) n.5348G= n.5389G= | |
| 17 | g.43057117C>G | CA10591114 | BRCA1 | c.5209G>C (p.Gly1737Arg) c.5212G>C (p.Gly1738Arg) c.5086G>C (p.Gly1696Arg) c.5206G>C (p.Gly1736Arg) c.5134G>C (p.Gly1712Arg) c.1900G>C (p.Gly634Arg) c.1762G>C (p.Gly588Arg) c.4324G>C (p.Gly1442Arg) c.5089G>C (p.Gly1697Arg) c.5278G>C (p.Gly1760Arg) c.5071G>C (p.Gly1691Arg) c.1774G>C (p.Gly592Arg) c.5275G>C (p.Gly1759Arg) c.1599G>C c.1786G>C (p.Gly596Arg) c.*4995G>C (n.*4995G>C) c.142G>C (p.Gly48Arg) c.685G>C (p.Gly229Arg) c.-98-6927G>C (n.-98-6927G>C) n.5348G>C n.5389G>C | ClinVar dbSNP |
| 17 | g.43057117C>T | CA003363 | BRCA1 | c.5209G>A (p.Gly1737Arg) c.5212G>A (p.Gly1738Arg) c.5086G>A (p.Gly1696Arg) c.5206G>A (p.Gly1736Arg) c.5134G>A (p.Gly1712Arg) c.1900G>A (p.Gly634Arg) c.1762G>A (p.Gly588Arg) c.4324G>A (p.Gly1442Arg) c.5089G>A (p.Gly1697Arg) c.5278G>A (p.Gly1760Arg) c.5071G>A (p.Gly1691Arg) c.1774G>A (p.Gly592Arg) c.5275G>A (p.Gly1759Arg) c.1599G>A c.1786G>A (p.Gly596Arg) c.*4995G>A (n.*4995G>A) c.142G>A (p.Gly48Arg) c.685G>A (p.Gly229Arg) c.-98-6927G>A (n.-98-6927G>A) n.5348G>A n.5389G>A | ClinVar dbSNP |