Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43057133_43063930del | CA916079884 | BRCA1 | c.5094_5194del c.5097_5197del c.4971_5071del c.5091_5191del c.5019_5119del c.1785_1885del c.1647_1747del c.4209_4309del c.4974_5074del c.5163_5263del c.4956_5056del c.1659_1759del c.5160_5260del c.1484_1584del c.1671_1771del c.*4880_*4980del c.27_127del c.570_670del c.-98-13739_-98-6942del (n.-98-13739_-98-6942del) n.5233_5333del n.5274_5374del | |
17 | g.43057133_43063931del | CA923726270 | BRCA1 | c.5092_5193del c.5095_5196del c.4969_5070del c.5089_5190del c.5017_5118del c.1783_1884del c.1645_1746del c.4207_4308del c.4972_5073del c.5161_5262del c.4954_5055del c.1657_1758del c.5158_5259del c.1482_1583del c.1669_1770del c.*4878_*4979del c.25_126del c.568_669del c.-98-13741_-98-6943del (n.-98-13741_-98-6943del) n.5231_5332del n.5272_5373del | |
17 | g.43059235_43065439dup | CA2697559969 | BRCA1 | c.5072-1461_5191-2073dup c.5075-1461_5194-2073dup c.4949-1461_5068-2073dup c.5069-1461_5188-2073dup c.4997-1461_5116-2073dup c.1763-1461_1882-2073dup c.1625-1461_1744-2073dup c.4187-1461_4306-2073dup c.4952-1461_5071-2073dup c.5141-1461_5260-2073dup c.4934-1461_5053-2073dup c.1637-1461_1756-2073dup c.5138-1461_5257-2073dup c.1462-1461_1581-2073dup c.1649-1461_1768-2073dup c.*4858-1461_*4977-2073dup c.5-1461_124-2073dup c.548-1461_667-2073dup c.-98-15222_-98-9018dup (n.-98-15222_-98-9018dup) n.5211-1461_5330-2073dup n.5252-1461_5371-2073dup | |
17 | g.43060764_43066736dup | CA2580612613 | BRCA1 | c.5071+872_5190+2569dup c.5074+872_5193+2569dup c.4948+872_5067+2569dup c.5068+872_5187+2569dup c.4996+872_5115+2569dup c.1762+872_1881+2569dup c.1624+872_1743+2569dup c.4186+872_4305+2569dup c.4951+872_5070+2569dup c.5140+872_5259+2569dup c.4933+872_5052+2569dup c.1636+872_1755+2569dup c.5137+872_5256+2569dup c.1461+872_1580+2569dup c.1648+872_1767+2569dup c.*4857+872_*4976+2569dup c.5-2785_123+2569dup c.547+872_666+2569dup c.-98-16546_-98-10574dup (n.-98-16546_-98-10574dup) n.5210+872_5329+2569dup n.5251+872_5370+2569dup | |
17 | g.43061818_43066643del | CA16043347 | BRCA1 | c.5071+991_5190+1541del c.5074+991_5193+1541del c.4948+991_5067+1541del c.5068+991_5187+1541del c.4996+991_5115+1541del c.1762+991_1881+1541del c.1624+991_1743+1541del c.4186+991_4305+1541del c.4951+991_5070+1541del c.5140+991_5259+1541del c.4933+991_5052+1541del c.1636+991_1755+1541del c.5137+991_5256+1541del c.1461+991_1580+1541del c.1648+991_1767+1541del c.*4857+991_*4976+1541del c.5-2666_123+1541del c.547+991_666+1541del c.-98-16427_-98-11602del (n.-98-16427_-98-11602del) n.5210+991_5329+1541del n.5251+991_5370+1541del | ClinVar |
17 | g.43063332_43064342del | CA2499224373 | BRCA1 | c.5072-390_5190+2del c.5075-390_5193+2del c.4949-390_5067+2del c.5069-390_5187+2del c.4997-390_5115+2del c.1763-390_1881+2del c.1625-390_1743+2del c.4187-390_4305+2del c.4952-390_5070+2del c.5141-390_5259+2del c.4934-390_5052+2del c.1637-390_1755+2del c.5138-390_5256+2del c.1462-390_1580+2del c.1649-390_1767+2del c.*4858-390_*4976+2del c.5-390_123+2del c.548-390_666+2del c.-98-14151_-98-13141del (n.-98-14151_-98-13141del) n.5211-390_5329+2del n.5252-390_5370+2del | ClinVar |
17 | g.43063334_43063930del | CA916084420 | BRCA1 | c.5095_5190+1del c.5098_5193+1del c.4972_5067+1del c.5092_5187+1del c.5020_5115+1del c.1786_1881+1del c.1648_1743+1del c.4210_4305+1del c.4975_5070+1del c.5164_5259+1del c.4957_5052+1del c.1660_1755+1del c.5161_5256+1del c.1485_1580+1del c.1672_1767+1del c.*4881_*4976+1del c.28_123+1del c.571_666+1del c.-98-13738_-98-13142del (n.-98-13738_-98-13142del) n.5234_5329+1del n.5275_5370+1del | |
17 | g.43063333_43063930del | CA916084421 | BRCA1 | c.5094_5190+1del c.5097_5193+1del c.4971_5067+1del c.5091_5187+1del c.5019_5115+1del c.1785_1881+1del c.1647_1743+1del c.4209_4305+1del c.4974_5070+1del c.5163_5259+1del c.4956_5052+1del c.1659_1755+1del c.5160_5256+1del c.1484_1580+1del c.1671_1767+1del c.*4880_*4976+1del c.27_123+1del c.570_666+1del c.-98-13739_-98-13142del (n.-98-13739_-98-13142del) n.5233_5329+1del n.5274_5370+1del | |
17 | g.43063335_43063953del | CA658655490 | BRCA1 | c.5072_5190del c.5075_5193del c.4949_5067del c.5069_5187del c.4997_5115del c.1763_1881del c.1625_1743del c.4187_4305del c.4952_5070del c.5141_5259del c.4934_5052del c.1637_1755del c.5138_5256del c.1462_1580del c.1649_1767del c.*4858_*4976del c.5_123del c.548_666del c.-98-13761_-98-13143del (n.-98-13761_-98-13143del) n.5211_5329del n.5252_5370del | |
17 | g.43063336_43063930del | CA913203496 | BRCA1 | c.5094_5188del c.5097_5191del c.4971_5065del c.5091_5185del c.5019_5113del c.1785_1879del c.1647_1741del c.4209_4303del c.4974_5068del c.5163_5257del c.4956_5050del c.1659_1753del c.5160_5254del c.1484_1578del c.1671_1765del c.*4880_*4974del c.27_121del c.570_664del c.-98-13739_-98-13145del (n.-98-13739_-98-13145del) n.5233_5327del n.5274_5368del | |
17 | g.43063357_43067682dup | CA1139532339 | BRCA1 | c.4998_5167dup c.5001_5170dup c.4875_5044dup c.4995_5164dup c.4923_5092dup c.1689_1858dup c.1551_1720dup c.4113_4282dup c.4878_5047dup c.5067_5236dup c.4860_5029dup c.1563_1732dup c.5064_5233dup c.1388_1557dup c.1575_1744dup c.*4784_*4953dup c.1314_1483dup c.5-3730_100dup c.474_643dup c.-98-17491_-98-13166dup (n.-98-17491_-98-13166dup) n.5137_5306dup n.5178_5347dup | |
17 | g.43063360_43063930del | CA916084423 | BRCA1 | c.5093_5163del c.5096_5166del c.4970_5040del c.5090_5160del c.5018_5088del c.1784_1854del c.1646_1716del c.4208_4278del c.4973_5043del c.5162_5232del c.4955_5025del c.1658_1728del c.5159_5229del c.1483_1553del c.1670_1740del c.*4879_*4949del c.1409_1479del c.26_96del c.569_639del c.-98-13740_-98-13170del (n.-98-13740_-98-13170del) n.5232_5302del n.5273_5343del | |
17 | g.43063366_43063931del | CA913203495 | BRCA1 | c.5093_5158del c.5096_5161del c.4970_5035del c.5090_5155del c.5018_5083del c.1784_1849del c.1646_1711del c.4208_4273del c.4973_5038del c.5162_5227del c.4955_5020del c.1658_1723del c.5159_5224del c.1483_1548del c.1670_1735del c.*4879_*4944del c.1409_1474del c.26_91del c.569_634del c.-98-13740_-98-13175del (n.-98-13740_-98-13175del) n.5232_5297del n.5273_5338del | |
17 | g.43063808_43063842del | CA2638061551 | BRCA1 | c.5149+42_5149+76del (n.5149+42_5149+76del) c.5152+42_5152+76del (n.5152+42_5152+76del) c.5026+42_5026+76del (n.5026+42_5026+76del) c.5146+42_5146+76del (n.5146+42_5146+76del) c.5074+42_5074+76del (n.5074+42_5074+76del) c.1840+42_1840+76del (n.1840+42_1840+76del) c.1702+42_1702+76del (n.1702+42_1702+76del) c.4264+42_4264+76del (n.4264+42_4264+76del) c.5029+42_5029+76del (n.5029+42_5029+76del) c.5218+42_5218+76del (n.5218+42_5218+76del) c.5011+42_5011+76del (n.5011+42_5011+76del) c.1714+42_1714+76del (n.1714+42_1714+76del) c.5215+42_5215+76del (n.5215+42_5215+76del) c.1539+42_1539+76del c.1726+42_1726+76del (n.1726+42_1726+76del) c.*4935+42_*4935+76del (n.*4935+42_*4935+76del) c.1465+42_1465+76del (n.1465+42_1465+76del) c.82+42_82+76del (n.82+42_82+76del) c.625+42_625+76del (n.625+42_625+76del) c.-98-13642_-98-13608del (n.-98-13642_-98-13608del) n.5288+42_5288+76del n.5329+42_5329+76del | gnomAD v4 |
17 | g.43063828T>C | CA2733910950 | BRCA1 | c.5149+46A>G (n.5149+46A>G) c.5152+46A>G (n.5152+46A>G) c.5026+46A>G (n.5026+46A>G) c.5146+46A>G (n.5146+46A>G) c.5074+46A>G (n.5074+46A>G) c.1840+46A>G (n.1840+46A>G) c.1702+46A>G (n.1702+46A>G) c.4264+46A>G (n.4264+46A>G) c.5029+46A>G (n.5029+46A>G) c.5218+46A>G (n.5218+46A>G) c.5011+46A>G (n.5011+46A>G) c.1714+46A>G (n.1714+46A>G) c.5215+46A>G (n.5215+46A>G) c.1539+46A>G c.1726+46A>G (n.1726+46A>G) c.*4935+46A>G (n.*4935+46A>G) c.1465+46A>G (n.1465+46A>G) c.82+46A>G (n.82+46A>G) c.625+46A>G (n.625+46A>G) c.-98-13638A>G (n.-98-13638A>G) n.5288+46A>G n.5329+46A>G | dbSNP |
17 | g.43063829T>A | CA2733647366 | BRCA1 | c.5149+45A>T (n.5149+45A>T) c.5152+45A>T (n.5152+45A>T) c.5026+45A>T (n.5026+45A>T) c.5146+45A>T (n.5146+45A>T) c.5074+45A>T (n.5074+45A>T) c.1840+45A>T (n.1840+45A>T) c.1702+45A>T (n.1702+45A>T) c.4264+45A>T (n.4264+45A>T) c.5029+45A>T (n.5029+45A>T) c.5218+45A>T (n.5218+45A>T) c.5011+45A>T (n.5011+45A>T) c.1714+45A>T (n.1714+45A>T) c.5215+45A>T (n.5215+45A>T) c.1539+45A>T c.1726+45A>T (n.1726+45A>T) c.*4935+45A>T (n.*4935+45A>T) c.1465+45A>T (n.1465+45A>T) c.82+45A>T (n.82+45A>T) c.625+45A>T (n.625+45A>T) c.-98-13639A>T (n.-98-13639A>T) n.5288+45A>T n.5329+45A>T | dbSNP |
17 | g.43063829T>G | CA054012 | BRCA1 | c.5149+45A>C (n.5149+45A>C) c.5152+45A>C (n.5152+45A>C) c.5026+45A>C (n.5026+45A>C) c.5146+45A>C (n.5146+45A>C) c.5074+45A>C (n.5074+45A>C) c.1840+45A>C (n.1840+45A>C) c.1702+45A>C (n.1702+45A>C) c.4264+45A>C (n.4264+45A>C) c.5029+45A>C (n.5029+45A>C) c.5218+45A>C (n.5218+45A>C) c.5011+45A>C (n.5011+45A>C) c.1714+45A>C (n.1714+45A>C) c.5215+45A>C (n.5215+45A>C) c.1539+45A>C c.1726+45A>C (n.1726+45A>C) c.*4935+45A>C (n.*4935+45A>C) c.1465+45A>C (n.1465+45A>C) c.82+45A>C (n.82+45A>C) c.625+45A>C (n.625+45A>C) c.-98-13639A>C (n.-98-13639A>C) n.5288+45A>C n.5329+45A>C | dbSNP ExAC gnomAD v4 |
17 | g.43063829T= | CA2260769459 | BRCA1 | c.5149+45A= (n.5149+45A=) c.5152+45A= (n.5152+45A=) c.5026+45A= (n.5026+45A=) c.5146+45A= (n.5146+45A=) c.5074+45A= (n.5074+45A=) c.1840+45A= (n.1840+45A=) c.1702+45A= (n.1702+45A=) c.4264+45A= (n.4264+45A=) c.5029+45A= (n.5029+45A=) c.5218+45A= (n.5218+45A=) c.5011+45A= (n.5011+45A=) c.1714+45A= (n.1714+45A=) c.5215+45A= (n.5215+45A=) c.1539+45A= c.1726+45A= (n.1726+45A=) c.*4935+45A= (n.*4935+45A=) c.1465+45A= (n.1465+45A=) c.82+45A= (n.82+45A=) c.625+45A= (n.625+45A=) c.-98-13639A= (n.-98-13639A=) n.5288+45A= n.5329+45A= | |
17 | g.43063830C>A | CA2733910953 | BRCA1 | c.5149+44G>T (n.5149+44G>T) c.5152+44G>T (n.5152+44G>T) c.5026+44G>T (n.5026+44G>T) c.5146+44G>T (n.5146+44G>T) c.5074+44G>T (n.5074+44G>T) c.1840+44G>T (n.1840+44G>T) c.1702+44G>T (n.1702+44G>T) c.4264+44G>T (n.4264+44G>T) c.5029+44G>T (n.5029+44G>T) c.5218+44G>T (n.5218+44G>T) c.5011+44G>T (n.5011+44G>T) c.1714+44G>T (n.1714+44G>T) c.5215+44G>T (n.5215+44G>T) c.1539+44G>T c.1726+44G>T (n.1726+44G>T) c.*4935+44G>T (n.*4935+44G>T) c.1465+44G>T (n.1465+44G>T) c.82+44G>T (n.82+44G>T) c.625+44G>T (n.625+44G>T) c.-98-13640G>T (n.-98-13640G>T) n.5288+44G>T n.5329+44G>T | dbSNP |
17 | g.43063830C>G | CA2733910955 | BRCA1 | c.5149+44G>C (n.5149+44G>C) c.5152+44G>C (n.5152+44G>C) c.5026+44G>C (n.5026+44G>C) c.5146+44G>C (n.5146+44G>C) c.5074+44G>C (n.5074+44G>C) c.1840+44G>C (n.1840+44G>C) c.1702+44G>C (n.1702+44G>C) c.4264+44G>C (n.4264+44G>C) c.5029+44G>C (n.5029+44G>C) c.5218+44G>C (n.5218+44G>C) c.5011+44G>C (n.5011+44G>C) c.1714+44G>C (n.1714+44G>C) c.5215+44G>C (n.5215+44G>C) c.1539+44G>C c.1726+44G>C (n.1726+44G>C) c.*4935+44G>C (n.*4935+44G>C) c.1465+44G>C (n.1465+44G>C) c.82+44G>C (n.82+44G>C) c.625+44G>C (n.625+44G>C) c.-98-13640G>C (n.-98-13640G>C) n.5288+44G>C n.5329+44G>C | dbSNP |
17 | g.43063830C>T | CA2733910952 | BRCA1 | c.5149+44G>A (n.5149+44G>A) c.5152+44G>A (n.5152+44G>A) c.5026+44G>A (n.5026+44G>A) c.5146+44G>A (n.5146+44G>A) c.5074+44G>A (n.5074+44G>A) c.1840+44G>A (n.1840+44G>A) c.1702+44G>A (n.1702+44G>A) c.4264+44G>A (n.4264+44G>A) c.5029+44G>A (n.5029+44G>A) c.5218+44G>A (n.5218+44G>A) c.5011+44G>A (n.5011+44G>A) c.1714+44G>A (n.1714+44G>A) c.5215+44G>A (n.5215+44G>A) c.1539+44G>A c.1726+44G>A (n.1726+44G>A) c.*4935+44G>A (n.*4935+44G>A) c.1465+44G>A (n.1465+44G>A) c.82+44G>A (n.82+44G>A) c.625+44G>A (n.625+44G>A) c.-98-13640G>A (n.-98-13640G>A) n.5288+44G>A n.5329+44G>A | dbSNP |
17 | g.43063832G>A | CA2546562888 | BRCA1 | c.5149+42C>T (n.5149+42C>T) c.5152+42C>T (n.5152+42C>T) c.5026+42C>T (n.5026+42C>T) c.5146+42C>T (n.5146+42C>T) c.5074+42C>T (n.5074+42C>T) c.1840+42C>T (n.1840+42C>T) c.1702+42C>T (n.1702+42C>T) c.4264+42C>T (n.4264+42C>T) c.5029+42C>T (n.5029+42C>T) c.5218+42C>T (n.5218+42C>T) c.5011+42C>T (n.5011+42C>T) c.1714+42C>T (n.1714+42C>T) c.5215+42C>T (n.5215+42C>T) c.1539+42C>T c.1726+42C>T (n.1726+42C>T) c.*4935+42C>T (n.*4935+42C>T) c.1465+42C>T (n.1465+42C>T) c.82+42C>T (n.82+42C>T) c.625+42C>T (n.625+42C>T) c.-98-13642C>T (n.-98-13642C>T) n.5288+42C>T n.5329+42C>T | dbSNP |
17 | g.43063832G>C | CA2733911061 | BRCA1 | c.5149+42C>G (n.5149+42C>G) c.5152+42C>G (n.5152+42C>G) c.5026+42C>G (n.5026+42C>G) c.5146+42C>G (n.5146+42C>G) c.5074+42C>G (n.5074+42C>G) c.1840+42C>G (n.1840+42C>G) c.1702+42C>G (n.1702+42C>G) c.4264+42C>G (n.4264+42C>G) c.5029+42C>G (n.5029+42C>G) c.5218+42C>G (n.5218+42C>G) c.5011+42C>G (n.5011+42C>G) c.1714+42C>G (n.1714+42C>G) c.5215+42C>G (n.5215+42C>G) c.1539+42C>G c.1726+42C>G (n.1726+42C>G) c.*4935+42C>G (n.*4935+42C>G) c.1465+42C>G (n.1465+42C>G) c.82+42C>G (n.82+42C>G) c.625+42C>G (n.625+42C>G) c.-98-13642C>G (n.-98-13642C>G) n.5288+42C>G n.5329+42C>G | dbSNP |
17 | g.43063832G>T | CA2638061571 | BRCA1 | c.5149+42C>A (n.5149+42C>A) c.5152+42C>A (n.5152+42C>A) c.5026+42C>A (n.5026+42C>A) c.5146+42C>A (n.5146+42C>A) c.5074+42C>A (n.5074+42C>A) c.1840+42C>A (n.1840+42C>A) c.1702+42C>A (n.1702+42C>A) c.4264+42C>A (n.4264+42C>A) c.5029+42C>A (n.5029+42C>A) c.5218+42C>A (n.5218+42C>A) c.5011+42C>A (n.5011+42C>A) c.1714+42C>A (n.1714+42C>A) c.5215+42C>A (n.5215+42C>A) c.1539+42C>A c.1726+42C>A (n.1726+42C>A) c.*4935+42C>A (n.*4935+42C>A) c.1465+42C>A (n.1465+42C>A) c.82+42C>A (n.82+42C>A) c.625+42C>A (n.625+42C>A) c.-98-13642C>A (n.-98-13642C>A) n.5288+42C>A n.5329+42C>A | dbSNP gnomAD v4 |
17 | g.43063836_43063848del | CA2638061570 | BRCA1 | c.5149+30_5149+42del (n.5149+30_5149+42del) c.5152+30_5152+42del (n.5152+30_5152+42del) c.5026+30_5026+42del (n.5026+30_5026+42del) c.5146+30_5146+42del (n.5146+30_5146+42del) c.5074+30_5074+42del (n.5074+30_5074+42del) c.1840+30_1840+42del (n.1840+30_1840+42del) c.1702+30_1702+42del (n.1702+30_1702+42del) c.4264+30_4264+42del (n.4264+30_4264+42del) c.5029+30_5029+42del (n.5029+30_5029+42del) c.5218+30_5218+42del (n.5218+30_5218+42del) c.5011+30_5011+42del (n.5011+30_5011+42del) c.1714+30_1714+42del (n.1714+30_1714+42del) c.5215+30_5215+42del (n.5215+30_5215+42del) c.1539+30_1539+42del c.1726+30_1726+42del (n.1726+30_1726+42del) c.*4935+30_*4935+42del (n.*4935+30_*4935+42del) c.1465+30_1465+42del (n.1465+30_1465+42del) c.82+30_82+42del (n.82+30_82+42del) c.625+30_625+42del (n.625+30_625+42del) c.-98-13654_-98-13642del (n.-98-13654_-98-13642del) n.5288+30_5288+42del n.5329+30_5329+42del | gnomAD v4 |
17 | g.43063833A= | CA2260769460 | BRCA1 | c.5149+41T= (n.5149+41T=) c.5152+41T= (n.5152+41T=) c.5026+41T= (n.5026+41T=) c.5146+41T= (n.5146+41T=) c.5074+41T= (n.5074+41T=) c.1840+41T= (n.1840+41T=) c.1702+41T= (n.1702+41T=) c.4264+41T= (n.4264+41T=) c.5029+41T= (n.5029+41T=) c.5218+41T= (n.5218+41T=) c.5011+41T= (n.5011+41T=) c.1714+41T= (n.1714+41T=) c.5215+41T= (n.5215+41T=) c.1539+41T= c.1726+41T= (n.1726+41T=) c.*4935+41T= (n.*4935+41T=) c.1465+41T= (n.1465+41T=) c.82+41T= (n.82+41T=) c.625+41T= (n.625+41T=) c.-98-13643T= (n.-98-13643T=) n.5288+41T= n.5329+41T= | |
17 | g.43063833A>G | CA054004 | BRCA1 | c.5149+41T>C (n.5149+41T>C) c.5152+41T>C (n.5152+41T>C) c.5026+41T>C (n.5026+41T>C) c.5146+41T>C (n.5146+41T>C) c.5074+41T>C (n.5074+41T>C) c.1840+41T>C (n.1840+41T>C) c.1702+41T>C (n.1702+41T>C) c.4264+41T>C (n.4264+41T>C) c.5029+41T>C (n.5029+41T>C) c.5218+41T>C (n.5218+41T>C) c.5011+41T>C (n.5011+41T>C) c.1714+41T>C (n.1714+41T>C) c.5215+41T>C (n.5215+41T>C) c.1539+41T>C c.1726+41T>C (n.1726+41T>C) c.*4935+41T>C (n.*4935+41T>C) c.1465+41T>C (n.1465+41T>C) c.82+41T>C (n.82+41T>C) c.625+41T>C (n.625+41T>C) c.-98-13643T>C (n.-98-13643T>C) n.5288+41T>C n.5329+41T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063833A>T | CA2733646366 | BRCA1 | c.5149+41T>A (n.5149+41T>A) c.5152+41T>A (n.5152+41T>A) c.5026+41T>A (n.5026+41T>A) c.5146+41T>A (n.5146+41T>A) c.5074+41T>A (n.5074+41T>A) c.1840+41T>A (n.1840+41T>A) c.1702+41T>A (n.1702+41T>A) c.4264+41T>A (n.4264+41T>A) c.5029+41T>A (n.5029+41T>A) c.5218+41T>A (n.5218+41T>A) c.5011+41T>A (n.5011+41T>A) c.1714+41T>A (n.1714+41T>A) c.5215+41T>A (n.5215+41T>A) c.1539+41T>A c.1726+41T>A (n.1726+41T>A) c.*4935+41T>A (n.*4935+41T>A) c.1465+41T>A (n.1465+41T>A) c.82+41T>A (n.82+41T>A) c.625+41T>A (n.625+41T>A) c.-98-13643T>A (n.-98-13643T>A) n.5288+41T>A n.5329+41T>A | dbSNP |
17 | g.43063834G>A | CA2733911064 | BRCA1 | c.5149+40C>T (n.5149+40C>T) c.5152+40C>T (n.5152+40C>T) c.5026+40C>T (n.5026+40C>T) c.5146+40C>T (n.5146+40C>T) c.5074+40C>T (n.5074+40C>T) c.1840+40C>T (n.1840+40C>T) c.1702+40C>T (n.1702+40C>T) c.4264+40C>T (n.4264+40C>T) c.5029+40C>T (n.5029+40C>T) c.5218+40C>T (n.5218+40C>T) c.5011+40C>T (n.5011+40C>T) c.1714+40C>T (n.1714+40C>T) c.5215+40C>T (n.5215+40C>T) c.1539+40C>T c.1726+40C>T (n.1726+40C>T) c.*4935+40C>T (n.*4935+40C>T) c.1465+40C>T (n.1465+40C>T) c.82+40C>T (n.82+40C>T) c.625+40C>T (n.625+40C>T) c.-98-13644C>T (n.-98-13644C>T) n.5288+40C>T n.5329+40C>T | dbSNP |
17 | g.43063834G>C | CA2638061572 | BRCA1 | c.5149+40C>G (n.5149+40C>G) c.5152+40C>G (n.5152+40C>G) c.5026+40C>G (n.5026+40C>G) c.5146+40C>G (n.5146+40C>G) c.5074+40C>G (n.5074+40C>G) c.1840+40C>G (n.1840+40C>G) c.1702+40C>G (n.1702+40C>G) c.4264+40C>G (n.4264+40C>G) c.5029+40C>G (n.5029+40C>G) c.5218+40C>G (n.5218+40C>G) c.5011+40C>G (n.5011+40C>G) c.1714+40C>G (n.1714+40C>G) c.5215+40C>G (n.5215+40C>G) c.1539+40C>G c.1726+40C>G (n.1726+40C>G) c.*4935+40C>G (n.*4935+40C>G) c.1465+40C>G (n.1465+40C>G) c.82+40C>G (n.82+40C>G) c.625+40C>G (n.625+40C>G) c.-98-13644C>G (n.-98-13644C>G) n.5288+40C>G n.5329+40C>G | dbSNP gnomAD v4 |
17 | g.43063834G>T | CA2638061573 | BRCA1 | c.5149+40C>A (n.5149+40C>A) c.5152+40C>A (n.5152+40C>A) c.5026+40C>A (n.5026+40C>A) c.5146+40C>A (n.5146+40C>A) c.5074+40C>A (n.5074+40C>A) c.1840+40C>A (n.1840+40C>A) c.1702+40C>A (n.1702+40C>A) c.4264+40C>A (n.4264+40C>A) c.5029+40C>A (n.5029+40C>A) c.5218+40C>A (n.5218+40C>A) c.5011+40C>A (n.5011+40C>A) c.1714+40C>A (n.1714+40C>A) c.5215+40C>A (n.5215+40C>A) c.1539+40C>A c.1726+40C>A (n.1726+40C>A) c.*4935+40C>A (n.*4935+40C>A) c.1465+40C>A (n.1465+40C>A) c.82+40C>A (n.82+40C>A) c.625+40C>A (n.625+40C>A) c.-98-13644C>A (n.-98-13644C>A) n.5288+40C>A n.5329+40C>A | dbSNP gnomAD v4 |
17 | g.43063835G>A | CA053999 | BRCA1 | c.5149+39C>T (n.5149+39C>T) c.5152+39C>T (n.5152+39C>T) c.5026+39C>T (n.5026+39C>T) c.5146+39C>T (n.5146+39C>T) c.5074+39C>T (n.5074+39C>T) c.1840+39C>T (n.1840+39C>T) c.1702+39C>T (n.1702+39C>T) c.4264+39C>T (n.4264+39C>T) c.5029+39C>T (n.5029+39C>T) c.5218+39C>T (n.5218+39C>T) c.5011+39C>T (n.5011+39C>T) c.1714+39C>T (n.1714+39C>T) c.5215+39C>T (n.5215+39C>T) c.1539+39C>T c.1726+39C>T (n.1726+39C>T) c.*4935+39C>T (n.*4935+39C>T) c.1465+39C>T (n.1465+39C>T) c.82+39C>T (n.82+39C>T) c.625+39C>T (n.625+39C>T) c.-98-13645C>T (n.-98-13645C>T) n.5288+39C>T n.5329+39C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063835G>C | CA2733646684 | BRCA1 | c.5149+39C>G (n.5149+39C>G) c.5152+39C>G (n.5152+39C>G) c.5026+39C>G (n.5026+39C>G) c.5146+39C>G (n.5146+39C>G) c.5074+39C>G (n.5074+39C>G) c.1840+39C>G (n.1840+39C>G) c.1702+39C>G (n.1702+39C>G) c.4264+39C>G (n.4264+39C>G) c.5029+39C>G (n.5029+39C>G) c.5218+39C>G (n.5218+39C>G) c.5011+39C>G (n.5011+39C>G) c.1714+39C>G (n.1714+39C>G) c.5215+39C>G (n.5215+39C>G) c.1539+39C>G c.1726+39C>G (n.1726+39C>G) c.*4935+39C>G (n.*4935+39C>G) c.1465+39C>G (n.1465+39C>G) c.82+39C>G (n.82+39C>G) c.625+39C>G (n.625+39C>G) c.-98-13645C>G (n.-98-13645C>G) n.5288+39C>G n.5329+39C>G | dbSNP |
17 | g.43063835G= | CA2260769461 | BRCA1 | c.5149+39C= (n.5149+39C=) c.5152+39C= (n.5152+39C=) c.5026+39C= (n.5026+39C=) c.5146+39C= (n.5146+39C=) c.5074+39C= (n.5074+39C=) c.1840+39C= (n.1840+39C=) c.1702+39C= (n.1702+39C=) c.4264+39C= (n.4264+39C=) c.5029+39C= (n.5029+39C=) c.5218+39C= (n.5218+39C=) c.5011+39C= (n.5011+39C=) c.1714+39C= (n.1714+39C=) c.5215+39C= (n.5215+39C=) c.1539+39C= c.1726+39C= (n.1726+39C=) c.*4935+39C= (n.*4935+39C=) c.1465+39C= (n.1465+39C=) c.82+39C= (n.82+39C=) c.625+39C= (n.625+39C=) c.-98-13645C= (n.-98-13645C=) n.5288+39C= n.5329+39C= | |
17 | g.43063835G>T | CA2638061574 | BRCA1 | c.5149+39C>A (n.5149+39C>A) c.5152+39C>A (n.5152+39C>A) c.5026+39C>A (n.5026+39C>A) c.5146+39C>A (n.5146+39C>A) c.5074+39C>A (n.5074+39C>A) c.1840+39C>A (n.1840+39C>A) c.1702+39C>A (n.1702+39C>A) c.4264+39C>A (n.4264+39C>A) c.5029+39C>A (n.5029+39C>A) c.5218+39C>A (n.5218+39C>A) c.5011+39C>A (n.5011+39C>A) c.1714+39C>A (n.1714+39C>A) c.5215+39C>A (n.5215+39C>A) c.1539+39C>A c.1726+39C>A (n.1726+39C>A) c.*4935+39C>A (n.*4935+39C>A) c.1465+39C>A (n.1465+39C>A) c.82+39C>A (n.82+39C>A) c.625+39C>A (n.625+39C>A) c.-98-13645C>A (n.-98-13645C>A) n.5288+39C>A n.5329+39C>A | gnomAD v4 |
17 | g.43063836T>C | CA626080869 | BRCA1 | c.5149+38A>G (n.5149+38A>G) c.5152+38A>G (n.5152+38A>G) c.5026+38A>G (n.5026+38A>G) c.5146+38A>G (n.5146+38A>G) c.5074+38A>G (n.5074+38A>G) c.1840+38A>G (n.1840+38A>G) c.1702+38A>G (n.1702+38A>G) c.4264+38A>G (n.4264+38A>G) c.5029+38A>G (n.5029+38A>G) c.5218+38A>G (n.5218+38A>G) c.5011+38A>G (n.5011+38A>G) c.1714+38A>G (n.1714+38A>G) c.5215+38A>G (n.5215+38A>G) c.1539+38A>G c.1726+38A>G (n.1726+38A>G) c.*4935+38A>G (n.*4935+38A>G) c.1465+38A>G (n.1465+38A>G) c.82+38A>G (n.82+38A>G) c.625+38A>G (n.625+38A>G) c.-98-13646A>G (n.-98-13646A>G) n.5288+38A>G n.5329+38A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063836T= | CA2260769462 | BRCA1 | c.5149+38A= (n.5149+38A=) c.5152+38A= (n.5152+38A=) c.5026+38A= (n.5026+38A=) c.5146+38A= (n.5146+38A=) c.5074+38A= (n.5074+38A=) c.1840+38A= (n.1840+38A=) c.1702+38A= (n.1702+38A=) c.4264+38A= (n.4264+38A=) c.5029+38A= (n.5029+38A=) c.5218+38A= (n.5218+38A=) c.5011+38A= (n.5011+38A=) c.1714+38A= (n.1714+38A=) c.5215+38A= (n.5215+38A=) c.1539+38A= c.1726+38A= (n.1726+38A=) c.*4935+38A= (n.*4935+38A=) c.1465+38A= (n.1465+38A=) c.82+38A= (n.82+38A=) c.625+38A= (n.625+38A=) c.-98-13646A= (n.-98-13646A=) n.5288+38A= n.5329+38A= | |
17 | g.43063837G>A | CA2733911203 | BRCA1 | c.5149+37C>T (n.5149+37C>T) c.5152+37C>T (n.5152+37C>T) c.5026+37C>T (n.5026+37C>T) c.5146+37C>T (n.5146+37C>T) c.5074+37C>T (n.5074+37C>T) c.1840+37C>T (n.1840+37C>T) c.1702+37C>T (n.1702+37C>T) c.4264+37C>T (n.4264+37C>T) c.5029+37C>T (n.5029+37C>T) c.5218+37C>T (n.5218+37C>T) c.5011+37C>T (n.5011+37C>T) c.1714+37C>T (n.1714+37C>T) c.5215+37C>T (n.5215+37C>T) c.1539+37C>T c.1726+37C>T (n.1726+37C>T) c.*4935+37C>T (n.*4935+37C>T) c.1465+37C>T (n.1465+37C>T) c.82+37C>T (n.82+37C>T) c.625+37C>T (n.625+37C>T) c.-98-13647C>T (n.-98-13647C>T) n.5288+37C>T n.5329+37C>T | dbSNP |
17 | g.43063837G>T | CA2638061575 | BRCA1 | c.5149+37C>A (n.5149+37C>A) c.5152+37C>A (n.5152+37C>A) c.5026+37C>A (n.5026+37C>A) c.5146+37C>A (n.5146+37C>A) c.5074+37C>A (n.5074+37C>A) c.1840+37C>A (n.1840+37C>A) c.1702+37C>A (n.1702+37C>A) c.4264+37C>A (n.4264+37C>A) c.5029+37C>A (n.5029+37C>A) c.5218+37C>A (n.5218+37C>A) c.5011+37C>A (n.5011+37C>A) c.1714+37C>A (n.1714+37C>A) c.5215+37C>A (n.5215+37C>A) c.1539+37C>A c.1726+37C>A (n.1726+37C>A) c.*4935+37C>A (n.*4935+37C>A) c.1465+37C>A (n.1465+37C>A) c.82+37C>A (n.82+37C>A) c.625+37C>A (n.625+37C>A) c.-98-13647C>A (n.-98-13647C>A) n.5288+37C>A n.5329+37C>A | gnomAD v4 |
17 | g.43063838T>A | CA2733911236 | BRCA1 | c.5149+36A>T (n.5149+36A>T) c.5152+36A>T (n.5152+36A>T) c.5026+36A>T (n.5026+36A>T) c.5146+36A>T (n.5146+36A>T) c.5074+36A>T (n.5074+36A>T) c.1840+36A>T (n.1840+36A>T) c.1702+36A>T (n.1702+36A>T) c.4264+36A>T (n.4264+36A>T) c.5029+36A>T (n.5029+36A>T) c.5218+36A>T (n.5218+36A>T) c.5011+36A>T (n.5011+36A>T) c.1714+36A>T (n.1714+36A>T) c.5215+36A>T (n.5215+36A>T) c.1539+36A>T c.1726+36A>T (n.1726+36A>T) c.*4935+36A>T (n.*4935+36A>T) c.1465+36A>T (n.1465+36A>T) c.82+36A>T (n.82+36A>T) c.625+36A>T (n.625+36A>T) c.-98-13648A>T (n.-98-13648A>T) n.5288+36A>T n.5329+36A>T | dbSNP |
17 | g.43063838T>G | CA2733911258 | BRCA1 | c.5149+36A>C (n.5149+36A>C) c.5152+36A>C (n.5152+36A>C) c.5026+36A>C (n.5026+36A>C) c.5146+36A>C (n.5146+36A>C) c.5074+36A>C (n.5074+36A>C) c.1840+36A>C (n.1840+36A>C) c.1702+36A>C (n.1702+36A>C) c.4264+36A>C (n.4264+36A>C) c.5029+36A>C (n.5029+36A>C) c.5218+36A>C (n.5218+36A>C) c.5011+36A>C (n.5011+36A>C) c.1714+36A>C (n.1714+36A>C) c.5215+36A>C (n.5215+36A>C) c.1539+36A>C c.1726+36A>C (n.1726+36A>C) c.*4935+36A>C (n.*4935+36A>C) c.1465+36A>C (n.1465+36A>C) c.82+36A>C (n.82+36A>C) c.625+36A>C (n.625+36A>C) c.-98-13648A>C (n.-98-13648A>C) n.5288+36A>C n.5329+36A>C | dbSNP |
17 | g.43063839_43063843delinsTAAAG | CA2260769463 | BRCA1 | c.5149+31_5149+35delinsCTTTA (n.5149+31_5149+35delinsCTTTA) c.5152+31_5152+35delinsCTTTA (n.5152+31_5152+35delinsCTTTA) c.5026+31_5026+35delinsCTTTA (n.5026+31_5026+35delinsCTTTA) c.5146+31_5146+35delinsCTTTA (n.5146+31_5146+35delinsCTTTA) c.5074+31_5074+35delinsCTTTA (n.5074+31_5074+35delinsCTTTA) c.1840+31_1840+35delinsCTTTA (n.1840+31_1840+35delinsCTTTA) c.1702+31_1702+35delinsCTTTA (n.1702+31_1702+35delinsCTTTA) c.4264+31_4264+35delinsCTTTA (n.4264+31_4264+35delinsCTTTA) c.5029+31_5029+35delinsCTTTA (n.5029+31_5029+35delinsCTTTA) c.5218+31_5218+35delinsCTTTA (n.5218+31_5218+35delinsCTTTA) c.5011+31_5011+35delinsCTTTA (n.5011+31_5011+35delinsCTTTA) c.1714+31_1714+35delinsCTTTA (n.1714+31_1714+35delinsCTTTA) c.5215+31_5215+35delinsCTTTA (n.5215+31_5215+35delinsCTTTA) c.1539+31_1539+35delinsCTTTA c.1726+31_1726+35delinsCTTTA (n.1726+31_1726+35delinsCTTTA) c.*4935+31_*4935+35delinsCTTTA (n.*4935+31_*4935+35delinsCTTTA) c.1465+31_1465+35delinsCTTTA (n.1465+31_1465+35delinsCTTTA) c.82+31_82+35delinsCTTTA (n.82+31_82+35delinsCTTTA) c.625+31_625+35delinsCTTTA (n.625+31_625+35delinsCTTTA) c.-98-13653_-98-13649delinsCTTTA (n.-98-13653_-98-13649delinsCTTTA) n.5288+31_5288+35delinsCTTTA n.5329+31_5329+35delinsCTTTA | |
17 | g.43063840A= | CA2260769464 | BRCA1 | c.5149+34T= (n.5149+34T=) c.5152+34T= (n.5152+34T=) c.5026+34T= (n.5026+34T=) c.5146+34T= (n.5146+34T=) c.5074+34T= (n.5074+34T=) c.1840+34T= (n.1840+34T=) c.1702+34T= (n.1702+34T=) c.4264+34T= (n.4264+34T=) c.5029+34T= (n.5029+34T=) c.5218+34T= (n.5218+34T=) c.5011+34T= (n.5011+34T=) c.1714+34T= (n.1714+34T=) c.5215+34T= (n.5215+34T=) c.1539+34T= c.1726+34T= (n.1726+34T=) c.*4935+34T= (n.*4935+34T=) c.1465+34T= (n.1465+34T=) c.82+34T= (n.82+34T=) c.625+34T= (n.625+34T=) c.-98-13650T= (n.-98-13650T=) n.5288+34T= n.5329+34T= | |
17 | g.43063840A>G | CA2260769465 | BRCA1 | c.5149+34T>C (n.5149+34T>C) c.5152+34T>C (n.5152+34T>C) c.5026+34T>C (n.5026+34T>C) c.5146+34T>C (n.5146+34T>C) c.5074+34T>C (n.5074+34T>C) c.1840+34T>C (n.1840+34T>C) c.1702+34T>C (n.1702+34T>C) c.4264+34T>C (n.4264+34T>C) c.5029+34T>C (n.5029+34T>C) c.5218+34T>C (n.5218+34T>C) c.5011+34T>C (n.5011+34T>C) c.1714+34T>C (n.1714+34T>C) c.5215+34T>C (n.5215+34T>C) c.1539+34T>C c.1726+34T>C (n.1726+34T>C) c.*4935+34T>C (n.*4935+34T>C) c.1465+34T>C (n.1465+34T>C) c.82+34T>C (n.82+34T>C) c.625+34T>C (n.625+34T>C) c.-98-13650T>C (n.-98-13650T>C) n.5288+34T>C n.5329+34T>C | dbSNP |
17 | g.43063840A>T | CA2638061576 | BRCA1 | c.5149+34T>A (n.5149+34T>A) c.5152+34T>A (n.5152+34T>A) c.5026+34T>A (n.5026+34T>A) c.5146+34T>A (n.5146+34T>A) c.5074+34T>A (n.5074+34T>A) c.1840+34T>A (n.1840+34T>A) c.1702+34T>A (n.1702+34T>A) c.4264+34T>A (n.4264+34T>A) c.5029+34T>A (n.5029+34T>A) c.5218+34T>A (n.5218+34T>A) c.5011+34T>A (n.5011+34T>A) c.1714+34T>A (n.1714+34T>A) c.5215+34T>A (n.5215+34T>A) c.1539+34T>A c.1726+34T>A (n.1726+34T>A) c.*4935+34T>A (n.*4935+34T>A) c.1465+34T>A (n.1465+34T>A) c.82+34T>A (n.82+34T>A) c.625+34T>A (n.625+34T>A) c.-98-13650T>A (n.-98-13650T>A) n.5288+34T>A n.5329+34T>A | dbSNP gnomAD v4 |
17 | g.43063840_43063843del | CA053995 | BRCA1 | c.5149+31_5149+34del (n.5149+31_5149+34del) c.5152+31_5152+34del (n.5152+31_5152+34del) c.5026+31_5026+34del (n.5026+31_5026+34del) c.5146+31_5146+34del (n.5146+31_5146+34del) c.5074+31_5074+34del (n.5074+31_5074+34del) c.1840+31_1840+34del (n.1840+31_1840+34del) c.1702+31_1702+34del (n.1702+31_1702+34del) c.4264+31_4264+34del (n.4264+31_4264+34del) c.5029+31_5029+34del (n.5029+31_5029+34del) c.5218+31_5218+34del (n.5218+31_5218+34del) c.5011+31_5011+34del (n.5011+31_5011+34del) c.1714+31_1714+34del (n.1714+31_1714+34del) c.5215+31_5215+34del (n.5215+31_5215+34del) c.1539+31_1539+34del c.1726+31_1726+34del (n.1726+31_1726+34del) c.*4935+31_*4935+34del (n.*4935+31_*4935+34del) c.1465+31_1465+34del (n.1465+31_1465+34del) c.82+31_82+34del (n.82+31_82+34del) c.625+31_625+34del (n.625+31_625+34del) c.-98-13653_-98-13650del (n.-98-13653_-98-13650del) n.5288+31_5288+34del n.5329+31_5329+34del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063842A= | CA2260769466 | BRCA1 | c.5149+32T= (n.5149+32T=) c.5152+32T= (n.5152+32T=) c.5026+32T= (n.5026+32T=) c.5146+32T= (n.5146+32T=) c.5074+32T= (n.5074+32T=) c.1840+32T= (n.1840+32T=) c.1702+32T= (n.1702+32T=) c.4264+32T= (n.4264+32T=) c.5029+32T= (n.5029+32T=) c.5218+32T= (n.5218+32T=) c.5011+32T= (n.5011+32T=) c.1714+32T= (n.1714+32T=) c.5215+32T= (n.5215+32T=) c.1539+32T= c.1726+32T= (n.1726+32T=) c.*4935+32T= (n.*4935+32T=) c.1465+32T= (n.1465+32T=) c.82+32T= (n.82+32T=) c.625+32T= (n.625+32T=) c.-98-13652T= (n.-98-13652T=) n.5288+32T= n.5329+32T= | |
17 | g.43063842A>G | CA983874525 | BRCA1 | c.5149+32T>C (n.5149+32T>C) c.5152+32T>C (n.5152+32T>C) c.5026+32T>C (n.5026+32T>C) c.5146+32T>C (n.5146+32T>C) c.5074+32T>C (n.5074+32T>C) c.1840+32T>C (n.1840+32T>C) c.1702+32T>C (n.1702+32T>C) c.4264+32T>C (n.4264+32T>C) c.5029+32T>C (n.5029+32T>C) c.5218+32T>C (n.5218+32T>C) c.5011+32T>C (n.5011+32T>C) c.1714+32T>C (n.1714+32T>C) c.5215+32T>C (n.5215+32T>C) c.1539+32T>C c.1726+32T>C (n.1726+32T>C) c.*4935+32T>C (n.*4935+32T>C) c.1465+32T>C (n.1465+32T>C) c.82+32T>C (n.82+32T>C) c.625+32T>C (n.625+32T>C) c.-98-13652T>C (n.-98-13652T>C) n.5288+32T>C n.5329+32T>C | dbSNP gnomAD v3 gnomAD v4 |
17 | g.43063842A>T | CA2638061577 | BRCA1 | c.5149+32T>A (n.5149+32T>A) c.5152+32T>A (n.5152+32T>A) c.5026+32T>A (n.5026+32T>A) c.5146+32T>A (n.5146+32T>A) c.5074+32T>A (n.5074+32T>A) c.1840+32T>A (n.1840+32T>A) c.1702+32T>A (n.1702+32T>A) c.4264+32T>A (n.4264+32T>A) c.5029+32T>A (n.5029+32T>A) c.5218+32T>A (n.5218+32T>A) c.5011+32T>A (n.5011+32T>A) c.1714+32T>A (n.1714+32T>A) c.5215+32T>A (n.5215+32T>A) c.1539+32T>A c.1726+32T>A (n.1726+32T>A) c.*4935+32T>A (n.*4935+32T>A) c.1465+32T>A (n.1465+32T>A) c.82+32T>A (n.82+32T>A) c.625+32T>A (n.625+32T>A) c.-98-13652T>A (n.-98-13652T>A) n.5288+32T>A n.5329+32T>A | dbSNP gnomAD v4 |
17 | g.43063843G>A | CA2638061578 | BRCA1 | c.5149+31C>T (n.5149+31C>T) c.5152+31C>T (n.5152+31C>T) c.5026+31C>T (n.5026+31C>T) c.5146+31C>T (n.5146+31C>T) c.5074+31C>T (n.5074+31C>T) c.1840+31C>T (n.1840+31C>T) c.1702+31C>T (n.1702+31C>T) c.4264+31C>T (n.4264+31C>T) c.5029+31C>T (n.5029+31C>T) c.5218+31C>T (n.5218+31C>T) c.5011+31C>T (n.5011+31C>T) c.1714+31C>T (n.1714+31C>T) c.5215+31C>T (n.5215+31C>T) c.1539+31C>T c.1726+31C>T (n.1726+31C>T) c.*4935+31C>T (n.*4935+31C>T) c.1465+31C>T (n.1465+31C>T) c.82+31C>T (n.82+31C>T) c.625+31C>T (n.625+31C>T) c.-98-13653C>T (n.-98-13653C>T) n.5288+31C>T n.5329+31C>T | gnomAD v4 |
17 | g.43063843G>T | CA2638061579 | BRCA1 | c.5149+31C>A (n.5149+31C>A) c.5152+31C>A (n.5152+31C>A) c.5026+31C>A (n.5026+31C>A) c.5146+31C>A (n.5146+31C>A) c.5074+31C>A (n.5074+31C>A) c.1840+31C>A (n.1840+31C>A) c.1702+31C>A (n.1702+31C>A) c.4264+31C>A (n.4264+31C>A) c.5029+31C>A (n.5029+31C>A) c.5218+31C>A (n.5218+31C>A) c.5011+31C>A (n.5011+31C>A) c.1714+31C>A (n.1714+31C>A) c.5215+31C>A (n.5215+31C>A) c.1539+31C>A c.1726+31C>A (n.1726+31C>A) c.*4935+31C>A (n.*4935+31C>A) c.1465+31C>A (n.1465+31C>A) c.82+31C>A (n.82+31C>A) c.625+31C>A (n.625+31C>A) c.-98-13653C>A (n.-98-13653C>A) n.5288+31C>A n.5329+31C>A | gnomAD v4 |
17 | g.43063844G>A | CA2697559911 | BRCA1 | c.5149+30C>T (n.5149+30C>T) c.5152+30C>T (n.5152+30C>T) c.5026+30C>T (n.5026+30C>T) c.5146+30C>T (n.5146+30C>T) c.5074+30C>T (n.5074+30C>T) c.1840+30C>T (n.1840+30C>T) c.1702+30C>T (n.1702+30C>T) c.4264+30C>T (n.4264+30C>T) c.5029+30C>T (n.5029+30C>T) c.5218+30C>T (n.5218+30C>T) c.5011+30C>T (n.5011+30C>T) c.1714+30C>T (n.1714+30C>T) c.5215+30C>T (n.5215+30C>T) c.1539+30C>T c.1726+30C>T (n.1726+30C>T) c.*4935+30C>T (n.*4935+30C>T) c.1465+30C>T (n.1465+30C>T) c.82+30C>T (n.82+30C>T) c.625+30C>T (n.625+30C>T) c.-98-13654C>T (n.-98-13654C>T) n.5288+30C>T n.5329+30C>T | ClinVar dbSNP |
17 | g.43063844G>T | CA2733911262 | BRCA1 | c.5149+30C>A (n.5149+30C>A) c.5152+30C>A (n.5152+30C>A) c.5026+30C>A (n.5026+30C>A) c.5146+30C>A (n.5146+30C>A) c.5074+30C>A (n.5074+30C>A) c.1840+30C>A (n.1840+30C>A) c.1702+30C>A (n.1702+30C>A) c.4264+30C>A (n.4264+30C>A) c.5029+30C>A (n.5029+30C>A) c.5218+30C>A (n.5218+30C>A) c.5011+30C>A (n.5011+30C>A) c.1714+30C>A (n.1714+30C>A) c.5215+30C>A (n.5215+30C>A) c.1539+30C>A c.1726+30C>A (n.1726+30C>A) c.*4935+30C>A (n.*4935+30C>A) c.1465+30C>A (n.1465+30C>A) c.82+30C>A (n.82+30C>A) c.625+30C>A (n.625+30C>A) c.-98-13654C>A (n.-98-13654C>A) n.5288+30C>A n.5329+30C>A | dbSNP |
17 | g.43063845G>A | CA2576282166 | BRCA1 | c.5149+29C>T (n.5149+29C>T) c.5152+29C>T (n.5152+29C>T) c.5026+29C>T (n.5026+29C>T) c.5146+29C>T (n.5146+29C>T) c.5074+29C>T (n.5074+29C>T) c.1840+29C>T (n.1840+29C>T) c.1702+29C>T (n.1702+29C>T) c.4264+29C>T (n.4264+29C>T) c.5029+29C>T (n.5029+29C>T) c.5218+29C>T (n.5218+29C>T) c.5011+29C>T (n.5011+29C>T) c.1714+29C>T (n.1714+29C>T) c.5215+29C>T (n.5215+29C>T) c.1539+29C>T c.1726+29C>T (n.1726+29C>T) c.*4935+29C>T (n.*4935+29C>T) c.1465+29C>T (n.1465+29C>T) c.82+29C>T (n.82+29C>T) c.625+29C>T (n.625+29C>T) c.-98-13655C>T (n.-98-13655C>T) n.5288+29C>T n.5329+29C>T | dbSNP |
17 | g.43063845G>C | CA2733911304 | BRCA1 | c.5149+29C>G (n.5149+29C>G) c.5152+29C>G (n.5152+29C>G) c.5026+29C>G (n.5026+29C>G) c.5146+29C>G (n.5146+29C>G) c.5074+29C>G (n.5074+29C>G) c.1840+29C>G (n.1840+29C>G) c.1702+29C>G (n.1702+29C>G) c.4264+29C>G (n.4264+29C>G) c.5029+29C>G (n.5029+29C>G) c.5218+29C>G (n.5218+29C>G) c.5011+29C>G (n.5011+29C>G) c.1714+29C>G (n.1714+29C>G) c.5215+29C>G (n.5215+29C>G) c.1539+29C>G c.1726+29C>G (n.1726+29C>G) c.*4935+29C>G (n.*4935+29C>G) c.1465+29C>G (n.1465+29C>G) c.82+29C>G (n.82+29C>G) c.625+29C>G (n.625+29C>G) c.-98-13655C>G (n.-98-13655C>G) n.5288+29C>G n.5329+29C>G | dbSNP |
17 | g.43063845G>T | CA2733911335 | BRCA1 | c.5149+29C>A (n.5149+29C>A) c.5152+29C>A (n.5152+29C>A) c.5026+29C>A (n.5026+29C>A) c.5146+29C>A (n.5146+29C>A) c.5074+29C>A (n.5074+29C>A) c.1840+29C>A (n.1840+29C>A) c.1702+29C>A (n.1702+29C>A) c.4264+29C>A (n.4264+29C>A) c.5029+29C>A (n.5029+29C>A) c.5218+29C>A (n.5218+29C>A) c.5011+29C>A (n.5011+29C>A) c.1714+29C>A (n.1714+29C>A) c.5215+29C>A (n.5215+29C>A) c.1539+29C>A c.1726+29C>A (n.1726+29C>A) c.*4935+29C>A (n.*4935+29C>A) c.1465+29C>A (n.1465+29C>A) c.82+29C>A (n.82+29C>A) c.625+29C>A (n.625+29C>A) c.-98-13655C>A (n.-98-13655C>A) n.5288+29C>A n.5329+29C>A | dbSNP |
17 | g.43063846A>T | CA2733911350 | BRCA1 | c.5149+28T>A (n.5149+28T>A) c.5152+28T>A (n.5152+28T>A) c.5026+28T>A (n.5026+28T>A) c.5146+28T>A (n.5146+28T>A) c.5074+28T>A (n.5074+28T>A) c.1840+28T>A (n.1840+28T>A) c.1702+28T>A (n.1702+28T>A) c.4264+28T>A (n.4264+28T>A) c.5029+28T>A (n.5029+28T>A) c.5218+28T>A (n.5218+28T>A) c.5011+28T>A (n.5011+28T>A) c.1714+28T>A (n.1714+28T>A) c.5215+28T>A (n.5215+28T>A) c.1539+28T>A c.1726+28T>A (n.1726+28T>A) c.*4935+28T>A (n.*4935+28T>A) c.1465+28T>A (n.1465+28T>A) c.82+28T>A (n.82+28T>A) c.625+28T>A (n.625+28T>A) c.-98-13656T>A (n.-98-13656T>A) n.5288+28T>A n.5329+28T>A | dbSNP |
17 | g.43063847G>A | CA2733671338 | BRCA1 | c.5149+27C>T (n.5149+27C>T) c.5152+27C>T (n.5152+27C>T) c.5026+27C>T (n.5026+27C>T) c.5146+27C>T (n.5146+27C>T) c.5074+27C>T (n.5074+27C>T) c.1840+27C>T (n.1840+27C>T) c.1702+27C>T (n.1702+27C>T) c.4264+27C>T (n.4264+27C>T) c.5029+27C>T (n.5029+27C>T) c.5218+27C>T (n.5218+27C>T) c.5011+27C>T (n.5011+27C>T) c.1714+27C>T (n.1714+27C>T) c.5215+27C>T (n.5215+27C>T) c.1539+27C>T c.1726+27C>T (n.1726+27C>T) c.*4935+27C>T (n.*4935+27C>T) c.1465+27C>T (n.1465+27C>T) c.82+27C>T (n.82+27C>T) c.625+27C>T (n.625+27C>T) c.-98-13657C>T (n.-98-13657C>T) n.5288+27C>T n.5329+27C>T | dbSNP |
17 | g.43063847G>C | CA626080871 | BRCA1 | c.5149+27C>G (n.5149+27C>G) c.5152+27C>G (n.5152+27C>G) c.5026+27C>G (n.5026+27C>G) c.5146+27C>G (n.5146+27C>G) c.5074+27C>G (n.5074+27C>G) c.1840+27C>G (n.1840+27C>G) c.1702+27C>G (n.1702+27C>G) c.4264+27C>G (n.4264+27C>G) c.5029+27C>G (n.5029+27C>G) c.5218+27C>G (n.5218+27C>G) c.5011+27C>G (n.5011+27C>G) c.1714+27C>G (n.1714+27C>G) c.5215+27C>G (n.5215+27C>G) c.1539+27C>G c.1726+27C>G (n.1726+27C>G) c.*4935+27C>G (n.*4935+27C>G) c.1465+27C>G (n.1465+27C>G) c.82+27C>G (n.82+27C>G) c.625+27C>G (n.625+27C>G) c.-98-13657C>G (n.-98-13657C>G) n.5288+27C>G n.5329+27C>G | dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063847G= | CA2260769467 | BRCA1 | c.5149+27C= (n.5149+27C=) c.5152+27C= (n.5152+27C=) c.5026+27C= (n.5026+27C=) c.5146+27C= (n.5146+27C=) c.5074+27C= (n.5074+27C=) c.1840+27C= (n.1840+27C=) c.1702+27C= (n.1702+27C=) c.4264+27C= (n.4264+27C=) c.5029+27C= (n.5029+27C=) c.5218+27C= (n.5218+27C=) c.5011+27C= (n.5011+27C=) c.1714+27C= (n.1714+27C=) c.5215+27C= (n.5215+27C=) c.1539+27C= c.1726+27C= (n.1726+27C=) c.*4935+27C= (n.*4935+27C=) c.1465+27C= (n.1465+27C=) c.82+27C= (n.82+27C=) c.625+27C= (n.625+27C=) c.-98-13657C= (n.-98-13657C=) n.5288+27C= n.5329+27C= | |
17 | g.43063848G>T | CA2638061580 | BRCA1 | c.5149+26C>A (n.5149+26C>A) c.5152+26C>A (n.5152+26C>A) c.5026+26C>A (n.5026+26C>A) c.5146+26C>A (n.5146+26C>A) c.5074+26C>A (n.5074+26C>A) c.1840+26C>A (n.1840+26C>A) c.1702+26C>A (n.1702+26C>A) c.4264+26C>A (n.4264+26C>A) c.5029+26C>A (n.5029+26C>A) c.5218+26C>A (n.5218+26C>A) c.5011+26C>A (n.5011+26C>A) c.1714+26C>A (n.1714+26C>A) c.5215+26C>A (n.5215+26C>A) c.1539+26C>A c.1726+26C>A (n.1726+26C>A) c.*4935+26C>A (n.*4935+26C>A) c.1465+26C>A (n.1465+26C>A) c.82+26C>A (n.82+26C>A) c.625+26C>A (n.625+26C>A) c.-98-13658C>A (n.-98-13658C>A) n.5288+26C>A n.5329+26C>A | gnomAD v4 |
17 | g.43063849A>T | CA2733911353 | BRCA1 | c.5149+25T>A (n.5149+25T>A) c.5152+25T>A (n.5152+25T>A) c.5026+25T>A (n.5026+25T>A) c.5146+25T>A (n.5146+25T>A) c.5074+25T>A (n.5074+25T>A) c.1840+25T>A (n.1840+25T>A) c.1702+25T>A (n.1702+25T>A) c.4264+25T>A (n.4264+25T>A) c.5029+25T>A (n.5029+25T>A) c.5218+25T>A (n.5218+25T>A) c.5011+25T>A (n.5011+25T>A) c.1714+25T>A (n.1714+25T>A) c.5215+25T>A (n.5215+25T>A) c.1539+25T>A c.1726+25T>A (n.1726+25T>A) c.*4935+25T>A (n.*4935+25T>A) c.1465+25T>A (n.1465+25T>A) c.82+25T>A (n.82+25T>A) c.625+25T>A (n.625+25T>A) c.-98-13659T>A (n.-98-13659T>A) n.5288+25T>A n.5329+25T>A | dbSNP |
17 | g.43063850G>A | CA2576282167 | BRCA1 | c.5149+24C>T (n.5149+24C>T) c.5152+24C>T (n.5152+24C>T) c.5026+24C>T (n.5026+24C>T) c.5146+24C>T (n.5146+24C>T) c.5074+24C>T (n.5074+24C>T) c.1840+24C>T (n.1840+24C>T) c.1702+24C>T (n.1702+24C>T) c.4264+24C>T (n.4264+24C>T) c.5029+24C>T (n.5029+24C>T) c.5218+24C>T (n.5218+24C>T) c.5011+24C>T (n.5011+24C>T) c.1714+24C>T (n.1714+24C>T) c.5215+24C>T (n.5215+24C>T) c.1539+24C>T c.1726+24C>T (n.1726+24C>T) c.*4935+24C>T (n.*4935+24C>T) c.1465+24C>T (n.1465+24C>T) c.82+24C>T (n.82+24C>T) c.625+24C>T (n.625+24C>T) c.-98-13660C>T (n.-98-13660C>T) n.5288+24C>T n.5329+24C>T | dbSNP |
17 | g.43063850G>C | CA2733911358 | BRCA1 | c.5149+24C>G (n.5149+24C>G) c.5152+24C>G (n.5152+24C>G) c.5026+24C>G (n.5026+24C>G) c.5146+24C>G (n.5146+24C>G) c.5074+24C>G (n.5074+24C>G) c.1840+24C>G (n.1840+24C>G) c.1702+24C>G (n.1702+24C>G) c.4264+24C>G (n.4264+24C>G) c.5029+24C>G (n.5029+24C>G) c.5218+24C>G (n.5218+24C>G) c.5011+24C>G (n.5011+24C>G) c.1714+24C>G (n.1714+24C>G) c.5215+24C>G (n.5215+24C>G) c.1539+24C>G c.1726+24C>G (n.1726+24C>G) c.*4935+24C>G (n.*4935+24C>G) c.1465+24C>G (n.1465+24C>G) c.82+24C>G (n.82+24C>G) c.625+24C>G (n.625+24C>G) c.-98-13660C>G (n.-98-13660C>G) n.5288+24C>G n.5329+24C>G | dbSNP |
17 | g.43063850G>T | CA2638061582 | BRCA1 | c.5149+24C>A (n.5149+24C>A) c.5152+24C>A (n.5152+24C>A) c.5026+24C>A (n.5026+24C>A) c.5146+24C>A (n.5146+24C>A) c.5074+24C>A (n.5074+24C>A) c.1840+24C>A (n.1840+24C>A) c.1702+24C>A (n.1702+24C>A) c.4264+24C>A (n.4264+24C>A) c.5029+24C>A (n.5029+24C>A) c.5218+24C>A (n.5218+24C>A) c.5011+24C>A (n.5011+24C>A) c.1714+24C>A (n.1714+24C>A) c.5215+24C>A (n.5215+24C>A) c.1539+24C>A c.1726+24C>A (n.1726+24C>A) c.*4935+24C>A (n.*4935+24C>A) c.1465+24C>A (n.1465+24C>A) c.82+24C>A (n.82+24C>A) c.625+24C>A (n.625+24C>A) c.-98-13660C>A (n.-98-13660C>A) n.5288+24C>A n.5329+24C>A | dbSNP gnomAD v4 |
17 | g.43063853dup | CA2638061581 | BRCA1 | c.5149+24dup (n.5149+24dup) c.5152+24dup (n.5152+24dup) c.5026+24dup (n.5026+24dup) c.5146+24dup (n.5146+24dup) c.5074+24dup (n.5074+24dup) c.1840+24dup (n.1840+24dup) c.1702+24dup (n.1702+24dup) c.4264+24dup (n.4264+24dup) c.5029+24dup (n.5029+24dup) c.5218+24dup (n.5218+24dup) c.5011+24dup (n.5011+24dup) c.1714+24dup (n.1714+24dup) c.5215+24dup (n.5215+24dup) c.1539+24dup c.1726+24dup (n.1726+24dup) c.*4935+24dup (n.*4935+24dup) c.1465+24dup (n.1465+24dup) c.82+24dup (n.82+24dup) c.625+24dup (n.625+24dup) c.-98-13660dup (n.-98-13660dup) n.5288+24dup n.5329+24dup | gnomAD v4 |
17 | g.43063851G>A | CA2576282168 | BRCA1 | c.5149+23C>T (n.5149+23C>T) c.5152+23C>T (n.5152+23C>T) c.5026+23C>T (n.5026+23C>T) c.5146+23C>T (n.5146+23C>T) c.5074+23C>T (n.5074+23C>T) c.1840+23C>T (n.1840+23C>T) c.1702+23C>T (n.1702+23C>T) c.4264+23C>T (n.4264+23C>T) c.5029+23C>T (n.5029+23C>T) c.5218+23C>T (n.5218+23C>T) c.5011+23C>T (n.5011+23C>T) c.1714+23C>T (n.1714+23C>T) c.5215+23C>T (n.5215+23C>T) c.1539+23C>T c.1726+23C>T (n.1726+23C>T) c.*4935+23C>T (n.*4935+23C>T) c.1465+23C>T (n.1465+23C>T) c.82+23C>T (n.82+23C>T) c.625+23C>T (n.625+23C>T) c.-98-13661C>T (n.-98-13661C>T) n.5288+23C>T n.5329+23C>T | dbSNP |
17 | g.43063851G>C | CA2733911385 | BRCA1 | c.5149+23C>G (n.5149+23C>G) c.5152+23C>G (n.5152+23C>G) c.5026+23C>G (n.5026+23C>G) c.5146+23C>G (n.5146+23C>G) c.5074+23C>G (n.5074+23C>G) c.1840+23C>G (n.1840+23C>G) c.1702+23C>G (n.1702+23C>G) c.4264+23C>G (n.4264+23C>G) c.5029+23C>G (n.5029+23C>G) c.5218+23C>G (n.5218+23C>G) c.5011+23C>G (n.5011+23C>G) c.1714+23C>G (n.1714+23C>G) c.5215+23C>G (n.5215+23C>G) c.1539+23C>G c.1726+23C>G (n.1726+23C>G) c.*4935+23C>G (n.*4935+23C>G) c.1465+23C>G (n.1465+23C>G) c.82+23C>G (n.82+23C>G) c.625+23C>G (n.625+23C>G) c.-98-13661C>G (n.-98-13661C>G) n.5288+23C>G n.5329+23C>G | dbSNP |
17 | g.43063851G>T | CA2638061583 | BRCA1 | c.5149+23C>A (n.5149+23C>A) c.5152+23C>A (n.5152+23C>A) c.5026+23C>A (n.5026+23C>A) c.5146+23C>A (n.5146+23C>A) c.5074+23C>A (n.5074+23C>A) c.1840+23C>A (n.1840+23C>A) c.1702+23C>A (n.1702+23C>A) c.4264+23C>A (n.4264+23C>A) c.5029+23C>A (n.5029+23C>A) c.5218+23C>A (n.5218+23C>A) c.5011+23C>A (n.5011+23C>A) c.1714+23C>A (n.1714+23C>A) c.5215+23C>A (n.5215+23C>A) c.1539+23C>A c.1726+23C>A (n.1726+23C>A) c.*4935+23C>A (n.*4935+23C>A) c.1465+23C>A (n.1465+23C>A) c.82+23C>A (n.82+23C>A) c.625+23C>A (n.625+23C>A) c.-98-13661C>A (n.-98-13661C>A) n.5288+23C>A n.5329+23C>A | gnomAD v4 |
17 | g.43063852G>A | CA2638061584 | BRCA1 | c.5149+22C>T (n.5149+22C>T) c.5152+22C>T (n.5152+22C>T) c.5026+22C>T (n.5026+22C>T) c.5146+22C>T (n.5146+22C>T) c.5074+22C>T (n.5074+22C>T) c.1840+22C>T (n.1840+22C>T) c.1702+22C>T (n.1702+22C>T) c.4264+22C>T (n.4264+22C>T) c.5029+22C>T (n.5029+22C>T) c.5218+22C>T (n.5218+22C>T) c.5011+22C>T (n.5011+22C>T) c.1714+22C>T (n.1714+22C>T) c.5215+22C>T (n.5215+22C>T) c.1539+22C>T c.1726+22C>T (n.1726+22C>T) c.*4935+22C>T (n.*4935+22C>T) c.1465+22C>T (n.1465+22C>T) c.82+22C>T (n.82+22C>T) c.625+22C>T (n.625+22C>T) c.-98-13662C>T (n.-98-13662C>T) n.5288+22C>T n.5329+22C>T | dbSNP gnomAD v4 |
17 | g.43063852G>C | CA2733911481 | BRCA1 | c.5149+22C>G (n.5149+22C>G) c.5152+22C>G (n.5152+22C>G) c.5026+22C>G (n.5026+22C>G) c.5146+22C>G (n.5146+22C>G) c.5074+22C>G (n.5074+22C>G) c.1840+22C>G (n.1840+22C>G) c.1702+22C>G (n.1702+22C>G) c.4264+22C>G (n.4264+22C>G) c.5029+22C>G (n.5029+22C>G) c.5218+22C>G (n.5218+22C>G) c.5011+22C>G (n.5011+22C>G) c.1714+22C>G (n.1714+22C>G) c.5215+22C>G (n.5215+22C>G) c.1539+22C>G c.1726+22C>G (n.1726+22C>G) c.*4935+22C>G (n.*4935+22C>G) c.1465+22C>G (n.1465+22C>G) c.82+22C>G (n.82+22C>G) c.625+22C>G (n.625+22C>G) c.-98-13662C>G (n.-98-13662C>G) n.5288+22C>G n.5329+22C>G | dbSNP |
17 | g.43063852G>T | CA2526139752 | BRCA1 | c.5149+22C>A (n.5149+22C>A) c.5152+22C>A (n.5152+22C>A) c.5026+22C>A (n.5026+22C>A) c.5146+22C>A (n.5146+22C>A) c.5074+22C>A (n.5074+22C>A) c.1840+22C>A (n.1840+22C>A) c.1702+22C>A (n.1702+22C>A) c.4264+22C>A (n.4264+22C>A) c.5029+22C>A (n.5029+22C>A) c.5218+22C>A (n.5218+22C>A) c.5011+22C>A (n.5011+22C>A) c.1714+22C>A (n.1714+22C>A) c.5215+22C>A (n.5215+22C>A) c.1539+22C>A c.1726+22C>A (n.1726+22C>A) c.*4935+22C>A (n.*4935+22C>A) c.1465+22C>A (n.1465+22C>A) c.82+22C>A (n.82+22C>A) c.625+22C>A (n.625+22C>A) c.-98-13662C>A (n.-98-13662C>A) n.5288+22C>A n.5329+22C>A | gnomAD v4 |
17 | g.43063852_43063856delinsTACTT | CA2739265592 | BRCA1 | c.5149+18_5149+22delinsAAGTA (n.5149+18_5149+22delinsAAGTA) c.5152+18_5152+22delinsAAGTA (n.5152+18_5152+22delinsAAGTA) c.5026+18_5026+22delinsAAGTA (n.5026+18_5026+22delinsAAGTA) c.5146+18_5146+22delinsAAGTA (n.5146+18_5146+22delinsAAGTA) c.5074+18_5074+22delinsAAGTA (n.5074+18_5074+22delinsAAGTA) c.1840+18_1840+22delinsAAGTA (n.1840+18_1840+22delinsAAGTA) c.1702+18_1702+22delinsAAGTA (n.1702+18_1702+22delinsAAGTA) c.4264+18_4264+22delinsAAGTA (n.4264+18_4264+22delinsAAGTA) c.5029+18_5029+22delinsAAGTA (n.5029+18_5029+22delinsAAGTA) c.5218+18_5218+22delinsAAGTA (n.5218+18_5218+22delinsAAGTA) c.5011+18_5011+22delinsAAGTA (n.5011+18_5011+22delinsAAGTA) c.1714+18_1714+22delinsAAGTA (n.1714+18_1714+22delinsAAGTA) c.5215+18_5215+22delinsAAGTA (n.5215+18_5215+22delinsAAGTA) c.1539+18_1539+22delinsAAGTA c.1726+18_1726+22delinsAAGTA (n.1726+18_1726+22delinsAAGTA) c.*4935+18_*4935+22delinsAAGTA (n.*4935+18_*4935+22delinsAAGTA) c.1465+18_1465+22delinsAAGTA (n.1465+18_1465+22delinsAAGTA) c.82+18_82+22delinsAAGTA (n.82+18_82+22delinsAAGTA) c.625+18_625+22delinsAAGTA (n.625+18_625+22delinsAAGTA) c.-98-13666_-98-13662delinsAAGTA (n.-98-13666_-98-13662delinsAAGTA) n.5288+18_5288+22delinsAAGTA n.5329+18_5329+22delinsAAGTA | ClinVar |
17 | g.43063853G>A | CA2733911486 | BRCA1 | c.5149+21C>T (n.5149+21C>T) c.5152+21C>T (n.5152+21C>T) c.5026+21C>T (n.5026+21C>T) c.5146+21C>T (n.5146+21C>T) c.5074+21C>T (n.5074+21C>T) c.1840+21C>T (n.1840+21C>T) c.1702+21C>T (n.1702+21C>T) c.4264+21C>T (n.4264+21C>T) c.5029+21C>T (n.5029+21C>T) c.5218+21C>T (n.5218+21C>T) c.5011+21C>T (n.5011+21C>T) c.1714+21C>T (n.1714+21C>T) c.5215+21C>T (n.5215+21C>T) c.1539+21C>T c.1726+21C>T (n.1726+21C>T) c.*4935+21C>T (n.*4935+21C>T) c.1465+21C>T (n.1465+21C>T) c.82+21C>T (n.82+21C>T) c.625+21C>T (n.625+21C>T) c.-98-13663C>T (n.-98-13663C>T) n.5288+21C>T n.5329+21C>T | dbSNP |
17 | g.43063853G>C | CA2638061585 | BRCA1 | c.5149+21C>G (n.5149+21C>G) c.5152+21C>G (n.5152+21C>G) c.5026+21C>G (n.5026+21C>G) c.5146+21C>G (n.5146+21C>G) c.5074+21C>G (n.5074+21C>G) c.1840+21C>G (n.1840+21C>G) c.1702+21C>G (n.1702+21C>G) c.4264+21C>G (n.4264+21C>G) c.5029+21C>G (n.5029+21C>G) c.5218+21C>G (n.5218+21C>G) c.5011+21C>G (n.5011+21C>G) c.1714+21C>G (n.1714+21C>G) c.5215+21C>G (n.5215+21C>G) c.1539+21C>G c.1726+21C>G (n.1726+21C>G) c.*4935+21C>G (n.*4935+21C>G) c.1465+21C>G (n.1465+21C>G) c.82+21C>G (n.82+21C>G) c.625+21C>G (n.625+21C>G) c.-98-13663C>G (n.-98-13663C>G) n.5288+21C>G n.5329+21C>G | dbSNP gnomAD v4 |
17 | g.43063853G>T | CA2638061586 | BRCA1 | c.5149+21C>A (n.5149+21C>A) c.5152+21C>A (n.5152+21C>A) c.5026+21C>A (n.5026+21C>A) c.5146+21C>A (n.5146+21C>A) c.5074+21C>A (n.5074+21C>A) c.1840+21C>A (n.1840+21C>A) c.1702+21C>A (n.1702+21C>A) c.4264+21C>A (n.4264+21C>A) c.5029+21C>A (n.5029+21C>A) c.5218+21C>A (n.5218+21C>A) c.5011+21C>A (n.5011+21C>A) c.1714+21C>A (n.1714+21C>A) c.5215+21C>A (n.5215+21C>A) c.1539+21C>A c.1726+21C>A (n.1726+21C>A) c.*4935+21C>A (n.*4935+21C>A) c.1465+21C>A (n.1465+21C>A) c.82+21C>A (n.82+21C>A) c.625+21C>A (n.625+21C>A) c.-98-13663C>A (n.-98-13663C>A) n.5288+21C>A n.5329+21C>A | gnomAD v4 |
17 | g.43063853_43063854delinsAG | CA2499224377 | BRCA1 | c.5149+20_5149+21delinsCT (n.5149+20_5149+21delinsCT) c.5152+20_5152+21delinsCT (n.5152+20_5152+21delinsCT) c.5026+20_5026+21delinsCT (n.5026+20_5026+21delinsCT) c.5146+20_5146+21delinsCT (n.5146+20_5146+21delinsCT) c.5074+20_5074+21delinsCT (n.5074+20_5074+21delinsCT) c.1840+20_1840+21delinsCT (n.1840+20_1840+21delinsCT) c.1702+20_1702+21delinsCT (n.1702+20_1702+21delinsCT) c.4264+20_4264+21delinsCT (n.4264+20_4264+21delinsCT) c.5029+20_5029+21delinsCT (n.5029+20_5029+21delinsCT) c.5218+20_5218+21delinsCT (n.5218+20_5218+21delinsCT) c.5011+20_5011+21delinsCT (n.5011+20_5011+21delinsCT) c.1714+20_1714+21delinsCT (n.1714+20_1714+21delinsCT) c.5215+20_5215+21delinsCT (n.5215+20_5215+21delinsCT) c.1539+20_1539+21delinsCT c.1726+20_1726+21delinsCT (n.1726+20_1726+21delinsCT) c.*4935+20_*4935+21delinsCT (n.*4935+20_*4935+21delinsCT) c.1465+20_1465+21delinsCT (n.1465+20_1465+21delinsCT) c.82+20_82+21delinsCT (n.82+20_82+21delinsCT) c.625+20_625+21delinsCT (n.625+20_625+21delinsCT) c.-98-13664_-98-13663delinsCT (n.-98-13664_-98-13663delinsCT) n.5288+20_5288+21delinsCT n.5329+20_5329+21delinsCT | ClinVar dbSNP |
17 | g.43063854A= | CA2260769468 | BRCA1 | c.5149+20T= (n.5149+20T=) c.5152+20T= (n.5152+20T=) c.5026+20T= (n.5026+20T=) c.5146+20T= (n.5146+20T=) c.5074+20T= (n.5074+20T=) c.1840+20T= (n.1840+20T=) c.1702+20T= (n.1702+20T=) c.4264+20T= (n.4264+20T=) c.5029+20T= (n.5029+20T=) c.5218+20T= (n.5218+20T=) c.5011+20T= (n.5011+20T=) c.1714+20T= (n.1714+20T=) c.5215+20T= (n.5215+20T=) c.1539+20T= c.1726+20T= (n.1726+20T=) c.*4935+20T= (n.*4935+20T=) c.1465+20T= (n.1465+20T=) c.82+20T= (n.82+20T=) c.625+20T= (n.625+20T=) c.-98-13664T= (n.-98-13664T=) n.5288+20T= n.5329+20T= | |
17 | g.43063854A>G | CA2638061587 | BRCA1 | c.5149+20T>C (n.5149+20T>C) c.5152+20T>C (n.5152+20T>C) c.5026+20T>C (n.5026+20T>C) c.5146+20T>C (n.5146+20T>C) c.5074+20T>C (n.5074+20T>C) c.1840+20T>C (n.1840+20T>C) c.1702+20T>C (n.1702+20T>C) c.4264+20T>C (n.4264+20T>C) c.5029+20T>C (n.5029+20T>C) c.5218+20T>C (n.5218+20T>C) c.5011+20T>C (n.5011+20T>C) c.1714+20T>C (n.1714+20T>C) c.5215+20T>C (n.5215+20T>C) c.1539+20T>C c.1726+20T>C (n.1726+20T>C) c.*4935+20T>C (n.*4935+20T>C) c.1465+20T>C (n.1465+20T>C) c.82+20T>C (n.82+20T>C) c.625+20T>C (n.625+20T>C) c.-98-13664T>C (n.-98-13664T>C) n.5288+20T>C n.5329+20T>C | gnomAD v4 |
17 | g.43063854A>T | CA003282 | BRCA1 | c.5149+20T>A (n.5149+20T>A) c.5152+20T>A (n.5152+20T>A) c.5026+20T>A (n.5026+20T>A) c.5146+20T>A (n.5146+20T>A) c.5074+20T>A (n.5074+20T>A) c.1840+20T>A (n.1840+20T>A) c.1702+20T>A (n.1702+20T>A) c.4264+20T>A (n.4264+20T>A) c.5029+20T>A (n.5029+20T>A) c.5218+20T>A (n.5218+20T>A) c.5011+20T>A (n.5011+20T>A) c.1714+20T>A (n.1714+20T>A) c.5215+20T>A (n.5215+20T>A) c.1539+20T>A c.1726+20T>A (n.1726+20T>A) c.*4935+20T>A (n.*4935+20T>A) c.1465+20T>A (n.1465+20T>A) c.82+20T>A (n.82+20T>A) c.625+20T>A (n.625+20T>A) c.-98-13664T>A (n.-98-13664T>A) n.5288+20T>A n.5329+20T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063855G>A | CA16607255 | BRCA1 | c.5149+19C>T (n.5149+19C>T) c.5152+19C>T (n.5152+19C>T) c.5026+19C>T (n.5026+19C>T) c.5146+19C>T (n.5146+19C>T) c.5074+19C>T (n.5074+19C>T) c.1840+19C>T (n.1840+19C>T) c.1702+19C>T (n.1702+19C>T) c.4264+19C>T (n.4264+19C>T) c.5029+19C>T (n.5029+19C>T) c.5218+19C>T (n.5218+19C>T) c.5011+19C>T (n.5011+19C>T) c.1714+19C>T (n.1714+19C>T) c.5215+19C>T (n.5215+19C>T) c.1539+19C>T c.1726+19C>T (n.1726+19C>T) c.*4935+19C>T (n.*4935+19C>T) c.1465+19C>T (n.1465+19C>T) c.82+19C>T (n.82+19C>T) c.625+19C>T (n.625+19C>T) c.-98-13665C>T (n.-98-13665C>T) n.5288+19C>T n.5329+19C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43063855G>C | CA2733658902 | BRCA1 | c.5149+19C>G (n.5149+19C>G) c.5152+19C>G (n.5152+19C>G) c.5026+19C>G (n.5026+19C>G) c.5146+19C>G (n.5146+19C>G) c.5074+19C>G (n.5074+19C>G) c.1840+19C>G (n.1840+19C>G) c.1702+19C>G (n.1702+19C>G) c.4264+19C>G (n.4264+19C>G) c.5029+19C>G (n.5029+19C>G) c.5218+19C>G (n.5218+19C>G) c.5011+19C>G (n.5011+19C>G) c.1714+19C>G (n.1714+19C>G) c.5215+19C>G (n.5215+19C>G) c.1539+19C>G c.1726+19C>G (n.1726+19C>G) c.*4935+19C>G (n.*4935+19C>G) c.1465+19C>G (n.1465+19C>G) c.82+19C>G (n.82+19C>G) c.625+19C>G (n.625+19C>G) c.-98-13665C>G (n.-98-13665C>G) n.5288+19C>G n.5329+19C>G | dbSNP |
17 | g.43063855G= | CA2260769469 | BRCA1 | c.5149+19C= (n.5149+19C=) c.5152+19C= (n.5152+19C=) c.5026+19C= (n.5026+19C=) c.5146+19C= (n.5146+19C=) c.5074+19C= (n.5074+19C=) c.1840+19C= (n.1840+19C=) c.1702+19C= (n.1702+19C=) c.4264+19C= (n.4264+19C=) c.5029+19C= (n.5029+19C=) c.5218+19C= (n.5218+19C=) c.5011+19C= (n.5011+19C=) c.1714+19C= (n.1714+19C=) c.5215+19C= (n.5215+19C=) c.1539+19C= c.1726+19C= (n.1726+19C=) c.*4935+19C= (n.*4935+19C=) c.1465+19C= (n.1465+19C=) c.82+19C= (n.82+19C=) c.625+19C= (n.625+19C=) c.-98-13665C= (n.-98-13665C=) n.5288+19C= n.5329+19C= | |
17 | g.43063855G>T | CA2638061588 | BRCA1 | c.5149+19C>A (n.5149+19C>A) c.5152+19C>A (n.5152+19C>A) c.5026+19C>A (n.5026+19C>A) c.5146+19C>A (n.5146+19C>A) c.5074+19C>A (n.5074+19C>A) c.1840+19C>A (n.1840+19C>A) c.1702+19C>A (n.1702+19C>A) c.4264+19C>A (n.4264+19C>A) c.5029+19C>A (n.5029+19C>A) c.5218+19C>A (n.5218+19C>A) c.5011+19C>A (n.5011+19C>A) c.1714+19C>A (n.1714+19C>A) c.5215+19C>A (n.5215+19C>A) c.1539+19C>A c.1726+19C>A (n.1726+19C>A) c.*4935+19C>A (n.*4935+19C>A) c.1465+19C>A (n.1465+19C>A) c.82+19C>A (n.82+19C>A) c.625+19C>A (n.625+19C>A) c.-98-13665C>A (n.-98-13665C>A) n.5288+19C>A n.5329+19C>A | gnomAD v4 |
17 | g.43063858del | CA2638061589 | BRCA1 | c.5149+18del (n.5149+18del) c.5152+18del (n.5152+18del) c.5026+18del (n.5026+18del) c.5146+18del (n.5146+18del) c.5074+18del (n.5074+18del) c.1840+18del (n.1840+18del) c.1702+18del (n.1702+18del) c.4264+18del (n.4264+18del) c.5029+18del (n.5029+18del) c.5218+18del (n.5218+18del) c.5011+18del (n.5011+18del) c.1714+18del (n.1714+18del) c.5215+18del (n.5215+18del) c.1539+18del c.1726+18del (n.1726+18del) c.*4935+18del (n.*4935+18del) c.1465+18del (n.1465+18del) c.82+18del (n.82+18del) c.625+18del (n.625+18del) c.-98-13666del (n.-98-13666del) n.5288+18del n.5329+18del | gnomAD v4 |
17 | g.43063859T>A | CA2733646367 | BRCA1 | c.5149+15A>T (n.5149+15A>T) c.5152+15A>T (n.5152+15A>T) c.5026+15A>T (n.5026+15A>T) c.5146+15A>T (n.5146+15A>T) c.5074+15A>T (n.5074+15A>T) c.1840+15A>T (n.1840+15A>T) c.1702+15A>T (n.1702+15A>T) c.4264+15A>T (n.4264+15A>T) c.5029+15A>T (n.5029+15A>T) c.5218+15A>T (n.5218+15A>T) c.5011+15A>T (n.5011+15A>T) c.1714+15A>T (n.1714+15A>T) c.5215+15A>T (n.5215+15A>T) c.1539+15A>T c.1726+15A>T (n.1726+15A>T) c.*4935+15A>T (n.*4935+15A>T) c.1465+15A>T (n.1465+15A>T) c.82+15A>T (n.82+15A>T) c.625+15A>T (n.625+15A>T) c.-98-13669A>T (n.-98-13669A>T) n.5288+15A>T n.5329+15A>T | dbSNP |
17 | g.43063859T>C | CA053986 | BRCA1 | c.5149+15A>G (n.5149+15A>G) c.5152+15A>G (n.5152+15A>G) c.5026+15A>G (n.5026+15A>G) c.5146+15A>G (n.5146+15A>G) c.5074+15A>G (n.5074+15A>G) c.1840+15A>G (n.1840+15A>G) c.1702+15A>G (n.1702+15A>G) c.4264+15A>G (n.4264+15A>G) c.5029+15A>G (n.5029+15A>G) c.5218+15A>G (n.5218+15A>G) c.5011+15A>G (n.5011+15A>G) c.1714+15A>G (n.1714+15A>G) c.5215+15A>G (n.5215+15A>G) c.1539+15A>G c.1726+15A>G (n.1726+15A>G) c.*4935+15A>G (n.*4935+15A>G) c.1465+15A>G (n.1465+15A>G) c.82+15A>G (n.82+15A>G) c.625+15A>G (n.625+15A>G) c.-98-13669A>G (n.-98-13669A>G) n.5288+15A>G n.5329+15A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063859T>G | CA2733646368 | BRCA1 | c.5149+15A>C (n.5149+15A>C) c.5152+15A>C (n.5152+15A>C) c.5026+15A>C (n.5026+15A>C) c.5146+15A>C (n.5146+15A>C) c.5074+15A>C (n.5074+15A>C) c.1840+15A>C (n.1840+15A>C) c.1702+15A>C (n.1702+15A>C) c.4264+15A>C (n.4264+15A>C) c.5029+15A>C (n.5029+15A>C) c.5218+15A>C (n.5218+15A>C) c.5011+15A>C (n.5011+15A>C) c.1714+15A>C (n.1714+15A>C) c.5215+15A>C (n.5215+15A>C) c.1539+15A>C c.1726+15A>C (n.1726+15A>C) c.*4935+15A>C (n.*4935+15A>C) c.1465+15A>C (n.1465+15A>C) c.82+15A>C (n.82+15A>C) c.625+15A>C (n.625+15A>C) c.-98-13669A>C (n.-98-13669A>C) n.5288+15A>C n.5329+15A>C | dbSNP |
17 | g.43063859T= | CA2260769470 | BRCA1 | c.5149+15A= (n.5149+15A=) c.5152+15A= (n.5152+15A=) c.5026+15A= (n.5026+15A=) c.5146+15A= (n.5146+15A=) c.5074+15A= (n.5074+15A=) c.1840+15A= (n.1840+15A=) c.1702+15A= (n.1702+15A=) c.4264+15A= (n.4264+15A=) c.5029+15A= (n.5029+15A=) c.5218+15A= (n.5218+15A=) c.5011+15A= (n.5011+15A=) c.1714+15A= (n.1714+15A=) c.5215+15A= (n.5215+15A=) c.1539+15A= c.1726+15A= (n.1726+15A=) c.*4935+15A= (n.*4935+15A=) c.1465+15A= (n.1465+15A=) c.82+15A= (n.82+15A=) c.625+15A= (n.625+15A=) c.-98-13669A= (n.-98-13669A=) n.5288+15A= n.5329+15A= | |
17 | g.43063859_43063860insTCTGTA | CA2739265594 | BRCA1 | c.5149+14_5149+15insTACAGA (n.5149+14_5149+15insTACAGA) c.5152+14_5152+15insTACAGA (n.5152+14_5152+15insTACAGA) c.5026+14_5026+15insTACAGA (n.5026+14_5026+15insTACAGA) c.5146+14_5146+15insTACAGA (n.5146+14_5146+15insTACAGA) c.5074+14_5074+15insTACAGA (n.5074+14_5074+15insTACAGA) c.1840+14_1840+15insTACAGA (n.1840+14_1840+15insTACAGA) c.1702+14_1702+15insTACAGA (n.1702+14_1702+15insTACAGA) c.4264+14_4264+15insTACAGA (n.4264+14_4264+15insTACAGA) c.5029+14_5029+15insTACAGA (n.5029+14_5029+15insTACAGA) c.5218+14_5218+15insTACAGA (n.5218+14_5218+15insTACAGA) c.5011+14_5011+15insTACAGA (n.5011+14_5011+15insTACAGA) c.1714+14_1714+15insTACAGA (n.1714+14_1714+15insTACAGA) c.5215+14_5215+15insTACAGA (n.5215+14_5215+15insTACAGA) c.1539+14_1539+15insTACAGA c.1726+14_1726+15insTACAGA (n.1726+14_1726+15insTACAGA) c.*4935+14_*4935+15insTACAGA (n.*4935+14_*4935+15insTACAGA) c.1465+14_1465+15insTACAGA (n.1465+14_1465+15insTACAGA) c.82+14_82+15insTACAGA (n.82+14_82+15insTACAGA) c.625+14_625+15insTACAGA (n.625+14_625+15insTACAGA) c.-98-13670_-98-13669insTACAGA (n.-98-13670_-98-13669insTACAGA) n.5288+14_5288+15insTACAGA n.5329+14_5329+15insTACAGA | ClinVar |
17 | g.43063860A>T | CA2733911648 | BRCA1 | c.5149+14T>A (n.5149+14T>A) c.5152+14T>A (n.5152+14T>A) c.5026+14T>A (n.5026+14T>A) c.5146+14T>A (n.5146+14T>A) c.5074+14T>A (n.5074+14T>A) c.1840+14T>A (n.1840+14T>A) c.1702+14T>A (n.1702+14T>A) c.4264+14T>A (n.4264+14T>A) c.5029+14T>A (n.5029+14T>A) c.5218+14T>A (n.5218+14T>A) c.5011+14T>A (n.5011+14T>A) c.1714+14T>A (n.1714+14T>A) c.5215+14T>A (n.5215+14T>A) c.1539+14T>A c.1726+14T>A (n.1726+14T>A) c.*4935+14T>A (n.*4935+14T>A) c.1465+14T>A (n.1465+14T>A) c.82+14T>A (n.82+14T>A) c.625+14T>A (n.625+14T>A) c.-98-13670T>A (n.-98-13670T>A) n.5288+14T>A n.5329+14T>A | dbSNP |
17 | g.43063863_43063926dup | CA2697559912 | BRCA1 | c.5100_5149+14dup c.5103_5152+14dup c.4977_5026+14dup c.5097_5146+14dup c.5025_5074+14dup c.1791_1840+14dup c.1653_1702+14dup c.4215_4264+14dup c.4980_5029+14dup c.5169_5218+14dup c.4962_5011+14dup c.1665_1714+14dup c.5166_5215+14dup c.1490_1539+14dup c.1677_1726+14dup c.*4886_*4935+14dup c.1416_1465+14dup c.33_82+14dup c.576_625+14dup c.-98-13733_-98-13670dup (n.-98-13733_-98-13670dup) n.5239_5288+14dup n.5280_5329+14dup | ClinVar |
17 | g.43063861G>A | CA915950073 | BRCA1 | c.5149+13C>T (n.5149+13C>T) c.5152+13C>T (n.5152+13C>T) c.5026+13C>T (n.5026+13C>T) c.5146+13C>T (n.5146+13C>T) c.5074+13C>T (n.5074+13C>T) c.1840+13C>T (n.1840+13C>T) c.1702+13C>T (n.1702+13C>T) c.4264+13C>T (n.4264+13C>T) c.5029+13C>T (n.5029+13C>T) c.5218+13C>T (n.5218+13C>T) c.5011+13C>T (n.5011+13C>T) c.1714+13C>T (n.1714+13C>T) c.5215+13C>T (n.5215+13C>T) c.1539+13C>T c.1726+13C>T (n.1726+13C>T) c.*4935+13C>T (n.*4935+13C>T) c.1465+13C>T (n.1465+13C>T) c.82+13C>T (n.82+13C>T) c.625+13C>T (n.625+13C>T) c.-98-13671C>T (n.-98-13671C>T) n.5288+13C>T n.5329+13C>T | ClinVar dbSNP |
17 | g.43063861G>C | CA2733641849 | BRCA1 | c.5149+13C>G (n.5149+13C>G) c.5152+13C>G (n.5152+13C>G) c.5026+13C>G (n.5026+13C>G) c.5146+13C>G (n.5146+13C>G) c.5074+13C>G (n.5074+13C>G) c.1840+13C>G (n.1840+13C>G) c.1702+13C>G (n.1702+13C>G) c.4264+13C>G (n.4264+13C>G) c.5029+13C>G (n.5029+13C>G) c.5218+13C>G (n.5218+13C>G) c.5011+13C>G (n.5011+13C>G) c.1714+13C>G (n.1714+13C>G) c.5215+13C>G (n.5215+13C>G) c.1539+13C>G c.1726+13C>G (n.1726+13C>G) c.*4935+13C>G (n.*4935+13C>G) c.1465+13C>G (n.1465+13C>G) c.82+13C>G (n.82+13C>G) c.625+13C>G (n.625+13C>G) c.-98-13671C>G (n.-98-13671C>G) n.5288+13C>G n.5329+13C>G | dbSNP |
17 | g.43063861G= | CA2260769471 | BRCA1 | c.5149+13C= (n.5149+13C=) c.5152+13C= (n.5152+13C=) c.5026+13C= (n.5026+13C=) c.5146+13C= (n.5146+13C=) c.5074+13C= (n.5074+13C=) c.1840+13C= (n.1840+13C=) c.1702+13C= (n.1702+13C=) c.4264+13C= (n.4264+13C=) c.5029+13C= (n.5029+13C=) c.5218+13C= (n.5218+13C=) c.5011+13C= (n.5011+13C=) c.1714+13C= (n.1714+13C=) c.5215+13C= (n.5215+13C=) c.1539+13C= c.1726+13C= (n.1726+13C=) c.*4935+13C= (n.*4935+13C=) c.1465+13C= (n.1465+13C=) c.82+13C= (n.82+13C=) c.625+13C= (n.625+13C=) c.-98-13671C= (n.-98-13671C=) n.5288+13C= n.5329+13C= | |
17 | g.43063861G>T | CA003278 | BRCA1 | c.5149+13C>A (n.5149+13C>A) c.5152+13C>A (n.5152+13C>A) c.5026+13C>A (n.5026+13C>A) c.5146+13C>A (n.5146+13C>A) c.5074+13C>A (n.5074+13C>A) c.1840+13C>A (n.1840+13C>A) c.1702+13C>A (n.1702+13C>A) c.4264+13C>A (n.4264+13C>A) c.5029+13C>A (n.5029+13C>A) c.5218+13C>A (n.5218+13C>A) c.5011+13C>A (n.5011+13C>A) c.1714+13C>A (n.1714+13C>A) c.5215+13C>A (n.5215+13C>A) c.1539+13C>A c.1726+13C>A (n.1726+13C>A) c.*4935+13C>A (n.*4935+13C>A) c.1465+13C>A (n.1465+13C>A) c.82+13C>A (n.82+13C>A) c.625+13C>A (n.625+13C>A) c.-98-13671C>A (n.-98-13671C>A) n.5288+13C>A n.5329+13C>A | ClinVar dbSNP gnomAD v4 |
17 | g.43063862T>A | CA2733646686 | BRCA1 | c.5149+12A>T (n.5149+12A>T) c.5152+12A>T (n.5152+12A>T) c.5026+12A>T (n.5026+12A>T) c.5146+12A>T (n.5146+12A>T) c.5074+12A>T (n.5074+12A>T) c.1840+12A>T (n.1840+12A>T) c.1702+12A>T (n.1702+12A>T) c.4264+12A>T (n.4264+12A>T) c.5029+12A>T (n.5029+12A>T) c.5218+12A>T (n.5218+12A>T) c.5011+12A>T (n.5011+12A>T) c.1714+12A>T (n.1714+12A>T) c.5215+12A>T (n.5215+12A>T) c.1539+12A>T c.1726+12A>T (n.1726+12A>T) c.*4935+12A>T (n.*4935+12A>T) c.1465+12A>T (n.1465+12A>T) c.82+12A>T (n.82+12A>T) c.625+12A>T (n.625+12A>T) c.-98-13672A>T (n.-98-13672A>T) n.5288+12A>T n.5329+12A>T | dbSNP |
17 | g.43063862T>C | CA053982 | BRCA1 | c.5149+12A>G (n.5149+12A>G) c.5152+12A>G (n.5152+12A>G) c.5026+12A>G (n.5026+12A>G) c.5146+12A>G (n.5146+12A>G) c.5074+12A>G (n.5074+12A>G) c.1840+12A>G (n.1840+12A>G) c.1702+12A>G (n.1702+12A>G) c.4264+12A>G (n.4264+12A>G) c.5029+12A>G (n.5029+12A>G) c.5218+12A>G (n.5218+12A>G) c.5011+12A>G (n.5011+12A>G) c.1714+12A>G (n.1714+12A>G) c.5215+12A>G (n.5215+12A>G) c.1539+12A>G c.1726+12A>G (n.1726+12A>G) c.*4935+12A>G (n.*4935+12A>G) c.1465+12A>G (n.1465+12A>G) c.82+12A>G (n.82+12A>G) c.625+12A>G (n.625+12A>G) c.-98-13672A>G (n.-98-13672A>G) n.5288+12A>G n.5329+12A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063862T= | CA2260769472 | BRCA1 | c.5149+12A= (n.5149+12A=) c.5152+12A= (n.5152+12A=) c.5026+12A= (n.5026+12A=) c.5146+12A= (n.5146+12A=) c.5074+12A= (n.5074+12A=) c.1840+12A= (n.1840+12A=) c.1702+12A= (n.1702+12A=) c.4264+12A= (n.4264+12A=) c.5029+12A= (n.5029+12A=) c.5218+12A= (n.5218+12A=) c.5011+12A= (n.5011+12A=) c.1714+12A= (n.1714+12A=) c.5215+12A= (n.5215+12A=) c.1539+12A= c.1726+12A= (n.1726+12A=) c.*4935+12A= (n.*4935+12A=) c.1465+12A= (n.1465+12A=) c.82+12A= (n.82+12A=) c.625+12A= (n.625+12A=) c.-98-13672A= (n.-98-13672A=) n.5288+12A= n.5329+12A= | |
17 | g.43063863A= | CA2260769473 | BRCA1 | c.5149+11T= (n.5149+11T=) c.5152+11T= (n.5152+11T=) c.5026+11T= (n.5026+11T=) c.5146+11T= (n.5146+11T=) c.5074+11T= (n.5074+11T=) c.1840+11T= (n.1840+11T=) c.1702+11T= (n.1702+11T=) c.4264+11T= (n.4264+11T=) c.5029+11T= (n.5029+11T=) c.5218+11T= (n.5218+11T=) c.5011+11T= (n.5011+11T=) c.1714+11T= (n.1714+11T=) c.5215+11T= (n.5215+11T=) c.1539+11T= c.1726+11T= (n.1726+11T=) c.*4935+11T= (n.*4935+11T=) c.1465+11T= (n.1465+11T=) c.82+11T= (n.82+11T=) c.625+11T= (n.625+11T=) c.-98-13673T= (n.-98-13673T=) n.5288+11T= n.5329+11T= | |
17 | g.43063863A>G | CA16615346 | BRCA1 | c.5149+11T>C (n.5149+11T>C) c.5152+11T>C (n.5152+11T>C) c.5026+11T>C (n.5026+11T>C) c.5146+11T>C (n.5146+11T>C) c.5074+11T>C (n.5074+11T>C) c.1840+11T>C (n.1840+11T>C) c.1702+11T>C (n.1702+11T>C) c.4264+11T>C (n.4264+11T>C) c.5029+11T>C (n.5029+11T>C) c.5218+11T>C (n.5218+11T>C) c.5011+11T>C (n.5011+11T>C) c.1714+11T>C (n.1714+11T>C) c.5215+11T>C (n.5215+11T>C) c.1539+11T>C c.1726+11T>C (n.1726+11T>C) c.*4935+11T>C (n.*4935+11T>C) c.1465+11T>C (n.1465+11T>C) c.82+11T>C (n.82+11T>C) c.625+11T>C (n.625+11T>C) c.-98-13673T>C (n.-98-13673T>C) n.5288+11T>C n.5329+11T>C | ClinVar dbSNP |
17 | g.43063863_43063882dup | CA2638061590 | BRCA1 | c.5141_5149+11dup c.5144_5152+11dup c.5018_5026+11dup c.5138_5146+11dup c.5066_5074+11dup c.1832_1840+11dup c.1694_1702+11dup c.4256_4264+11dup c.5021_5029+11dup c.5210_5218+11dup c.5003_5011+11dup c.1706_1714+11dup c.5207_5215+11dup c.1531_1539+11dup c.1718_1726+11dup c.*4927_*4935+11dup c.1457_1465+11dup c.74_82+11dup c.617_625+11dup c.-98-13692_-98-13673dup (n.-98-13692_-98-13673dup) n.5280_5288+11dup n.5321_5329+11dup | gnomAD v4 |
17 | g.43063864T>A | CA916080117 | BRCA1 | c.5149+10A>T (n.5149+10A>T) c.5152+10A>T (n.5152+10A>T) c.5026+10A>T (n.5026+10A>T) c.5146+10A>T (n.5146+10A>T) c.5074+10A>T (n.5074+10A>T) c.1840+10A>T (n.1840+10A>T) c.1702+10A>T (n.1702+10A>T) c.4264+10A>T (n.4264+10A>T) c.5029+10A>T (n.5029+10A>T) c.5218+10A>T (n.5218+10A>T) c.5011+10A>T (n.5011+10A>T) c.1714+10A>T (n.1714+10A>T) c.5215+10A>T (n.5215+10A>T) c.1539+10A>T c.1726+10A>T (n.1726+10A>T) c.*4935+10A>T (n.*4935+10A>T) c.1465+10A>T (n.1465+10A>T) c.82+10A>T (n.82+10A>T) c.625+10A>T (n.625+10A>T) c.-98-13674A>T (n.-98-13674A>T) n.5288+10A>T n.5329+10A>T | ClinVar dbSNP |
17 | g.43063864T>C | CA003277 | BRCA1 | c.5149+10A>G (n.5149+10A>G) c.5152+10A>G (n.5152+10A>G) c.5026+10A>G (n.5026+10A>G) c.5146+10A>G (n.5146+10A>G) c.5074+10A>G (n.5074+10A>G) c.1840+10A>G (n.1840+10A>G) c.1702+10A>G (n.1702+10A>G) c.4264+10A>G (n.4264+10A>G) c.5029+10A>G (n.5029+10A>G) c.5218+10A>G (n.5218+10A>G) c.5011+10A>G (n.5011+10A>G) c.1714+10A>G (n.1714+10A>G) c.5215+10A>G (n.5215+10A>G) c.1539+10A>G c.1726+10A>G (n.1726+10A>G) c.*4935+10A>G (n.*4935+10A>G) c.1465+10A>G (n.1465+10A>G) c.82+10A>G (n.82+10A>G) c.625+10A>G (n.625+10A>G) c.-98-13674A>G (n.-98-13674A>G) n.5288+10A>G n.5329+10A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063864T>G | CA916080116 | BRCA1 | c.5149+10A>C (n.5149+10A>C) c.5152+10A>C (n.5152+10A>C) c.5026+10A>C (n.5026+10A>C) c.5146+10A>C (n.5146+10A>C) c.5074+10A>C (n.5074+10A>C) c.1840+10A>C (n.1840+10A>C) c.1702+10A>C (n.1702+10A>C) c.4264+10A>C (n.4264+10A>C) c.5029+10A>C (n.5029+10A>C) c.5218+10A>C (n.5218+10A>C) c.5011+10A>C (n.5011+10A>C) c.1714+10A>C (n.1714+10A>C) c.5215+10A>C (n.5215+10A>C) c.1539+10A>C c.1726+10A>C (n.1726+10A>C) c.*4935+10A>C (n.*4935+10A>C) c.1465+10A>C (n.1465+10A>C) c.82+10A>C (n.82+10A>C) c.625+10A>C (n.625+10A>C) c.-98-13674A>C (n.-98-13674A>C) n.5288+10A>C n.5329+10A>C | ClinVar dbSNP |
17 | g.43063864T= | CA2260769474 | BRCA1 | c.5149+10A= (n.5149+10A=) c.5152+10A= (n.5152+10A=) c.5026+10A= (n.5026+10A=) c.5146+10A= (n.5146+10A=) c.5074+10A= (n.5074+10A=) c.1840+10A= (n.1840+10A=) c.1702+10A= (n.1702+10A=) c.4264+10A= (n.4264+10A=) c.5029+10A= (n.5029+10A=) c.5218+10A= (n.5218+10A=) c.5011+10A= (n.5011+10A=) c.1714+10A= (n.1714+10A=) c.5215+10A= (n.5215+10A=) c.1539+10A= c.1726+10A= (n.1726+10A=) c.*4935+10A= (n.*4935+10A=) c.1465+10A= (n.1465+10A=) c.82+10A= (n.82+10A=) c.625+10A= (n.625+10A=) c.-98-13674A= (n.-98-13674A=) n.5288+10A= n.5329+10A= | |
17 | g.43063865del | CA2576282169 | BRCA1 | c.5149+10del (n.5149+10del) c.5152+10del (n.5152+10del) c.5026+10del (n.5026+10del) c.5146+10del (n.5146+10del) c.5074+10del (n.5074+10del) c.1840+10del (n.1840+10del) c.1702+10del (n.1702+10del) c.4264+10del (n.4264+10del) c.5029+10del (n.5029+10del) c.5218+10del (n.5218+10del) c.5011+10del (n.5011+10del) c.1714+10del (n.1714+10del) c.5215+10del (n.5215+10del) c.1539+10del c.1726+10del (n.1726+10del) c.*4935+10del (n.*4935+10del) c.1465+10del (n.1465+10del) c.82+10del (n.82+10del) c.625+10del (n.625+10del) c.-98-13674del (n.-98-13674del) n.5288+10del n.5329+10del | |
17 | g.43063867_43063872dup | CA2739265595 | BRCA1 | c.5149+5_5149+10dup (n.5149+5_5149+10dup) c.5152+5_5152+10dup (n.5152+5_5152+10dup) c.5026+5_5026+10dup (n.5026+5_5026+10dup) c.5146+5_5146+10dup (n.5146+5_5146+10dup) c.5074+5_5074+10dup (n.5074+5_5074+10dup) c.1840+5_1840+10dup (n.1840+5_1840+10dup) c.1702+5_1702+10dup (n.1702+5_1702+10dup) c.4264+5_4264+10dup (n.4264+5_4264+10dup) c.5029+5_5029+10dup (n.5029+5_5029+10dup) c.5218+5_5218+10dup (n.5218+5_5218+10dup) c.5011+5_5011+10dup (n.5011+5_5011+10dup) c.1714+5_1714+10dup (n.1714+5_1714+10dup) c.5215+5_5215+10dup (n.5215+5_5215+10dup) c.1539+5_1539+10dup c.1726+5_1726+10dup (n.1726+5_1726+10dup) c.*4935+5_*4935+10dup (n.*4935+5_*4935+10dup) c.1465+5_1465+10dup (n.1465+5_1465+10dup) c.82+5_82+10dup (n.82+5_82+10dup) c.625+5_625+10dup (n.625+5_625+10dup) c.-98-13679_-98-13674dup (n.-98-13679_-98-13674dup) n.5288+5_5288+10dup n.5329+5_5329+10dup | ClinVar |
17 | g.43063865T>A | CA16615655 | BRCA1 | c.5149+9A>T (n.5149+9A>T) c.5152+9A>T (n.5152+9A>T) c.5026+9A>T (n.5026+9A>T) c.5146+9A>T (n.5146+9A>T) c.5074+9A>T (n.5074+9A>T) c.1840+9A>T (n.1840+9A>T) c.1702+9A>T (n.1702+9A>T) c.4264+9A>T (n.4264+9A>T) c.5029+9A>T (n.5029+9A>T) c.5218+9A>T (n.5218+9A>T) c.5011+9A>T (n.5011+9A>T) c.1714+9A>T (n.1714+9A>T) c.5215+9A>T (n.5215+9A>T) c.1539+9A>T c.1726+9A>T (n.1726+9A>T) c.*4935+9A>T (n.*4935+9A>T) c.1465+9A>T (n.1465+9A>T) c.82+9A>T (n.82+9A>T) c.625+9A>T (n.625+9A>T) c.-98-13675A>T (n.-98-13675A>T) n.5288+9A>T n.5329+9A>T | ClinVar dbSNP |
17 | g.43063865T>C | CA658684100 | BRCA1 | c.5149+9A>G (n.5149+9A>G) c.5152+9A>G (n.5152+9A>G) c.5026+9A>G (n.5026+9A>G) c.5146+9A>G (n.5146+9A>G) c.5074+9A>G (n.5074+9A>G) c.1840+9A>G (n.1840+9A>G) c.1702+9A>G (n.1702+9A>G) c.4264+9A>G (n.4264+9A>G) c.5029+9A>G (n.5029+9A>G) c.5218+9A>G (n.5218+9A>G) c.5011+9A>G (n.5011+9A>G) c.1714+9A>G (n.1714+9A>G) c.5215+9A>G (n.5215+9A>G) c.1539+9A>G c.1726+9A>G (n.1726+9A>G) c.*4935+9A>G (n.*4935+9A>G) c.1465+9A>G (n.1465+9A>G) c.82+9A>G (n.82+9A>G) c.625+9A>G (n.625+9A>G) c.-98-13675A>G (n.-98-13675A>G) n.5288+9A>G n.5329+9A>G | ClinVar dbSNP |
17 | g.43063865T>G | CA913190335 | BRCA1 | c.5149+9A>C (n.5149+9A>C) c.5152+9A>C (n.5152+9A>C) c.5026+9A>C (n.5026+9A>C) c.5146+9A>C (n.5146+9A>C) c.5074+9A>C (n.5074+9A>C) c.1840+9A>C (n.1840+9A>C) c.1702+9A>C (n.1702+9A>C) c.4264+9A>C (n.4264+9A>C) c.5029+9A>C (n.5029+9A>C) c.5218+9A>C (n.5218+9A>C) c.5011+9A>C (n.5011+9A>C) c.1714+9A>C (n.1714+9A>C) c.5215+9A>C (n.5215+9A>C) c.1539+9A>C c.1726+9A>C (n.1726+9A>C) c.*4935+9A>C (n.*4935+9A>C) c.1465+9A>C (n.1465+9A>C) c.82+9A>C (n.82+9A>C) c.625+9A>C (n.625+9A>C) c.-98-13675A>C (n.-98-13675A>C) n.5288+9A>C n.5329+9A>C | ClinVar dbSNP |
17 | g.43063865T= | CA2260769476 | BRCA1 | c.5149+9A= (n.5149+9A=) c.5152+9A= (n.5152+9A=) c.5026+9A= (n.5026+9A=) c.5146+9A= (n.5146+9A=) c.5074+9A= (n.5074+9A=) c.1840+9A= (n.1840+9A=) c.1702+9A= (n.1702+9A=) c.4264+9A= (n.4264+9A=) c.5029+9A= (n.5029+9A=) c.5218+9A= (n.5218+9A=) c.5011+9A= (n.5011+9A=) c.1714+9A= (n.1714+9A=) c.5215+9A= (n.5215+9A=) c.1539+9A= c.1726+9A= (n.1726+9A=) c.*4935+9A= (n.*4935+9A=) c.1465+9A= (n.1465+9A=) c.82+9A= (n.82+9A=) c.625+9A= (n.625+9A=) c.-98-13675A= (n.-98-13675A=) n.5288+9A= n.5329+9A= | |
17 | g.43063865_43063881delinsTATACTTACAGAAATAG | CA2260769475 | BRCA1 | c.5142_5149+9delinsCTATTTCTGTAAGTATA c.5145_5152+9delinsCTATTTCTGTAAGTATA c.5019_5026+9delinsCTATTTCTGTAAGTATA c.5139_5146+9delinsCTATTTCTGTAAGTATA c.5067_5074+9delinsCTATTTCTGTAAGTATA c.1833_1840+9delinsCTATTTCTGTAAGTATA c.1695_1702+9delinsCTATTTCTGTAAGTATA c.4257_4264+9delinsCTATTTCTGTAAGTATA c.5022_5029+9delinsCTATTTCTGTAAGTATA c.5211_5218+9delinsCTATTTCTGTAAGTATA c.5004_5011+9delinsCTATTTCTGTAAGTATA c.1707_1714+9delinsCTATTTCTGTAAGTATA c.5208_5215+9delinsCTATTTCTGTAAGTATA c.1532_1539+9delinsCTATTTCTGTAAGTATA c.1719_1726+9delinsCTATTTCTGTAAGTATA c.*4928_*4935+9delinsCTATTTCTGTAAGTATA c.1458_1465+9delinsCTATTTCTGTAAGTATA c.75_82+9delinsCTATTTCTGTAAGTATA c.618_625+9delinsCTATTTCTGTAAGTATA c.-98-13691_-98-13675delinsCTATTTCTGTAAGTATA (n.-98-13691_-98-13675delinsCTATTTCTGTAAGTATA) n.5281_5288+9delinsCTATTTCTGTAAGTATA n.5322_5329+9delinsCTATTTCTGTAAGTATA | |
17 | g.43063866A= | CA2260769477 | BRCA1 | c.5149+8T= (n.5149+8T=) c.5152+8T= (n.5152+8T=) c.5026+8T= (n.5026+8T=) c.5146+8T= (n.5146+8T=) c.5074+8T= (n.5074+8T=) c.1840+8T= (n.1840+8T=) c.1702+8T= (n.1702+8T=) c.4264+8T= (n.4264+8T=) c.5029+8T= (n.5029+8T=) c.5218+8T= (n.5218+8T=) c.5011+8T= (n.5011+8T=) c.1714+8T= (n.1714+8T=) c.5215+8T= (n.5215+8T=) c.1539+8T= c.1726+8T= (n.1726+8T=) c.*4935+8T= (n.*4935+8T=) c.1465+8T= (n.1465+8T=) c.82+8T= (n.82+8T=) c.625+8T= (n.625+8T=) c.-98-13676T= (n.-98-13676T=) n.5288+8T= n.5329+8T= | |
17 | g.43063866A>C | CA916080119 | BRCA1 | c.5149+8T>G (n.5149+8T>G) c.5152+8T>G (n.5152+8T>G) c.5026+8T>G (n.5026+8T>G) c.5146+8T>G (n.5146+8T>G) c.5074+8T>G (n.5074+8T>G) c.1840+8T>G (n.1840+8T>G) c.1702+8T>G (n.1702+8T>G) c.4264+8T>G (n.4264+8T>G) c.5029+8T>G (n.5029+8T>G) c.5218+8T>G (n.5218+8T>G) c.5011+8T>G (n.5011+8T>G) c.1714+8T>G (n.1714+8T>G) c.5215+8T>G (n.5215+8T>G) c.1539+8T>G c.1726+8T>G (n.1726+8T>G) c.*4935+8T>G (n.*4935+8T>G) c.1465+8T>G (n.1465+8T>G) c.82+8T>G (n.82+8T>G) c.625+8T>G (n.625+8T>G) c.-98-13676T>G (n.-98-13676T>G) n.5288+8T>G n.5329+8T>G | ClinVar dbSNP |
17 | g.43063866A>G | CA913188796 | BRCA1 | c.5149+8T>C (n.5149+8T>C) c.5152+8T>C (n.5152+8T>C) c.5026+8T>C (n.5026+8T>C) c.5146+8T>C (n.5146+8T>C) c.5074+8T>C (n.5074+8T>C) c.1840+8T>C (n.1840+8T>C) c.1702+8T>C (n.1702+8T>C) c.4264+8T>C (n.4264+8T>C) c.5029+8T>C (n.5029+8T>C) c.5218+8T>C (n.5218+8T>C) c.5011+8T>C (n.5011+8T>C) c.1714+8T>C (n.1714+8T>C) c.5215+8T>C (n.5215+8T>C) c.1539+8T>C c.1726+8T>C (n.1726+8T>C) c.*4935+8T>C (n.*4935+8T>C) c.1465+8T>C (n.1465+8T>C) c.82+8T>C (n.82+8T>C) c.625+8T>C (n.625+8T>C) c.-98-13676T>C (n.-98-13676T>C) n.5288+8T>C n.5329+8T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063866A>T | CA916080118 | BRCA1 | c.5149+8T>A (n.5149+8T>A) c.5152+8T>A (n.5152+8T>A) c.5026+8T>A (n.5026+8T>A) c.5146+8T>A (n.5146+8T>A) c.5074+8T>A (n.5074+8T>A) c.1840+8T>A (n.1840+8T>A) c.1702+8T>A (n.1702+8T>A) c.4264+8T>A (n.4264+8T>A) c.5029+8T>A (n.5029+8T>A) c.5218+8T>A (n.5218+8T>A) c.5011+8T>A (n.5011+8T>A) c.1714+8T>A (n.1714+8T>A) c.5215+8T>A (n.5215+8T>A) c.1539+8T>A c.1726+8T>A (n.1726+8T>A) c.*4935+8T>A (n.*4935+8T>A) c.1465+8T>A (n.1465+8T>A) c.82+8T>A (n.82+8T>A) c.625+8T>A (n.625+8T>A) c.-98-13676T>A (n.-98-13676T>A) n.5288+8T>A n.5329+8T>A | ClinVar dbSNP gnomAD v4 |
17 | g.43063866_43063881delinsCTATTT | CA915950074 | BRCA1 | c.5142_5149+8delinsAAATAG c.5145_5152+8delinsAAATAG c.5019_5026+8delinsAAATAG c.5139_5146+8delinsAAATAG c.5067_5074+8delinsAAATAG c.1833_1840+8delinsAAATAG c.1695_1702+8delinsAAATAG c.4257_4264+8delinsAAATAG c.5022_5029+8delinsAAATAG c.5211_5218+8delinsAAATAG c.5004_5011+8delinsAAATAG c.1707_1714+8delinsAAATAG c.5208_5215+8delinsAAATAG c.1532_1539+8delinsAAATAG c.1719_1726+8delinsAAATAG c.*4928_*4935+8delinsAAATAG c.1458_1465+8delinsAAATAG c.75_82+8delinsAAATAG c.618_625+8delinsAAATAG c.-98-13691_-98-13676delinsAAATAG (n.-98-13691_-98-13676delinsAAATAG) n.5281_5288+8delinsAAATAG n.5322_5329+8delinsAAATAG | ClinVar dbSNP |
17 | g.43063866_43063867insG | CA2556593901 | BRCA1 | c.5149+7_5149+8insC (n.5149+7_5149+8insC) c.5152+7_5152+8insC (n.5152+7_5152+8insC) c.5026+7_5026+8insC (n.5026+7_5026+8insC) c.5146+7_5146+8insC (n.5146+7_5146+8insC) c.5074+7_5074+8insC (n.5074+7_5074+8insC) c.1840+7_1840+8insC (n.1840+7_1840+8insC) c.1702+7_1702+8insC (n.1702+7_1702+8insC) c.4264+7_4264+8insC (n.4264+7_4264+8insC) c.5029+7_5029+8insC (n.5029+7_5029+8insC) c.5218+7_5218+8insC (n.5218+7_5218+8insC) c.5011+7_5011+8insC (n.5011+7_5011+8insC) c.1714+7_1714+8insC (n.1714+7_1714+8insC) c.5215+7_5215+8insC (n.5215+7_5215+8insC) c.1539+7_1539+8insC c.1726+7_1726+8insC (n.1726+7_1726+8insC) c.*4935+7_*4935+8insC (n.*4935+7_*4935+8insC) c.1465+7_1465+8insC (n.1465+7_1465+8insC) c.82+7_82+8insC (n.82+7_82+8insC) c.625+7_625+8insC (n.625+7_625+8insC) c.-98-13677_-98-13676insC (n.-98-13677_-98-13676insC) n.5288+7_5288+8insC n.5329+7_5329+8insC | |
17 | g.43063867T>A | CA916080121 | BRCA1 | c.5149+7A>T (n.5149+7A>T) c.5152+7A>T (n.5152+7A>T) c.5026+7A>T (n.5026+7A>T) c.5146+7A>T (n.5146+7A>T) c.5074+7A>T (n.5074+7A>T) c.1840+7A>T (n.1840+7A>T) c.1702+7A>T (n.1702+7A>T) c.4264+7A>T (n.4264+7A>T) c.5029+7A>T (n.5029+7A>T) c.5218+7A>T (n.5218+7A>T) c.5011+7A>T (n.5011+7A>T) c.1714+7A>T (n.1714+7A>T) c.5215+7A>T (n.5215+7A>T) c.1539+7A>T c.1726+7A>T (n.1726+7A>T) c.*4935+7A>T (n.*4935+7A>T) c.1465+7A>T (n.1465+7A>T) c.82+7A>T (n.82+7A>T) c.625+7A>T (n.625+7A>T) c.-98-13677A>T (n.-98-13677A>T) n.5288+7A>T n.5329+7A>T | ClinVar dbSNP |
17 | g.43063867T>C | CA003293 | BRCA1 | c.5149+7A>G (n.5149+7A>G) c.5152+7A>G (n.5152+7A>G) c.5026+7A>G (n.5026+7A>G) c.5146+7A>G (n.5146+7A>G) c.5074+7A>G (n.5074+7A>G) c.1840+7A>G (n.1840+7A>G) c.1702+7A>G (n.1702+7A>G) c.4264+7A>G (n.4264+7A>G) c.5029+7A>G (n.5029+7A>G) c.5218+7A>G (n.5218+7A>G) c.5011+7A>G (n.5011+7A>G) c.1714+7A>G (n.1714+7A>G) c.5215+7A>G (n.5215+7A>G) c.1539+7A>G c.1726+7A>G (n.1726+7A>G) c.*4935+7A>G (n.*4935+7A>G) c.1465+7A>G (n.1465+7A>G) c.82+7A>G (n.82+7A>G) c.625+7A>G (n.625+7A>G) c.-98-13677A>G (n.-98-13677A>G) n.5288+7A>G n.5329+7A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063867T>G | CA916080120 | BRCA1 | c.5149+7A>C (n.5149+7A>C) c.5152+7A>C (n.5152+7A>C) c.5026+7A>C (n.5026+7A>C) c.5146+7A>C (n.5146+7A>C) c.5074+7A>C (n.5074+7A>C) c.1840+7A>C (n.1840+7A>C) c.1702+7A>C (n.1702+7A>C) c.4264+7A>C (n.4264+7A>C) c.5029+7A>C (n.5029+7A>C) c.5218+7A>C (n.5218+7A>C) c.5011+7A>C (n.5011+7A>C) c.1714+7A>C (n.1714+7A>C) c.5215+7A>C (n.5215+7A>C) c.1539+7A>C c.1726+7A>C (n.1726+7A>C) c.*4935+7A>C (n.*4935+7A>C) c.1465+7A>C (n.1465+7A>C) c.82+7A>C (n.82+7A>C) c.625+7A>C (n.625+7A>C) c.-98-13677A>C (n.-98-13677A>C) n.5288+7A>C n.5329+7A>C | ClinVar dbSNP |
17 | g.43063867T= | CA2260769478 | BRCA1 | c.5149+7A= (n.5149+7A=) c.5152+7A= (n.5152+7A=) c.5026+7A= (n.5026+7A=) c.5146+7A= (n.5146+7A=) c.5074+7A= (n.5074+7A=) c.1840+7A= (n.1840+7A=) c.1702+7A= (n.1702+7A=) c.4264+7A= (n.4264+7A=) c.5029+7A= (n.5029+7A=) c.5218+7A= (n.5218+7A=) c.5011+7A= (n.5011+7A=) c.1714+7A= (n.1714+7A=) c.5215+7A= (n.5215+7A=) c.1539+7A= c.1726+7A= (n.1726+7A=) c.*4935+7A= (n.*4935+7A=) c.1465+7A= (n.1465+7A=) c.82+7A= (n.82+7A=) c.625+7A= (n.625+7A=) c.-98-13677A= (n.-98-13677A=) n.5288+7A= n.5329+7A= | |
17 | g.43063868A= | CA2260769479 | BRCA1 | c.5149+6T= (n.5149+6T=) c.5152+6T= (n.5152+6T=) c.5026+6T= (n.5026+6T=) c.5146+6T= (n.5146+6T=) c.5074+6T= (n.5074+6T=) c.1840+6T= (n.1840+6T=) c.1702+6T= (n.1702+6T=) c.4264+6T= (n.4264+6T=) c.5029+6T= (n.5029+6T=) c.5218+6T= (n.5218+6T=) c.5011+6T= (n.5011+6T=) c.1714+6T= (n.1714+6T=) c.5215+6T= (n.5215+6T=) c.1539+6T= c.1726+6T= (n.1726+6T=) c.*4935+6T= (n.*4935+6T=) c.1465+6T= (n.1465+6T=) c.82+6T= (n.82+6T=) c.625+6T= (n.625+6T=) c.-98-13678T= (n.-98-13678T=) n.5288+6T= n.5329+6T= | |
17 | g.43063868A>C | CA003292 | BRCA1 | c.5149+6T>G (n.5149+6T>G) c.5152+6T>G (n.5152+6T>G) c.5026+6T>G (n.5026+6T>G) c.5146+6T>G (n.5146+6T>G) c.5074+6T>G (n.5074+6T>G) c.1840+6T>G (n.1840+6T>G) c.1702+6T>G (n.1702+6T>G) c.4264+6T>G (n.4264+6T>G) c.5029+6T>G (n.5029+6T>G) c.5218+6T>G (n.5218+6T>G) c.5011+6T>G (n.5011+6T>G) c.1714+6T>G (n.1714+6T>G) c.5215+6T>G (n.5215+6T>G) c.1539+6T>G c.1726+6T>G (n.1726+6T>G) c.*4935+6T>G (n.*4935+6T>G) c.1465+6T>G (n.1465+6T>G) c.82+6T>G (n.82+6T>G) c.625+6T>G (n.625+6T>G) c.-98-13678T>G (n.-98-13678T>G) n.5288+6T>G n.5329+6T>G | ClinVar dbSNP |
17 | g.43063868A>G | CA003291 | BRCA1 | c.5149+6T>C (n.5149+6T>C) c.5152+6T>C (n.5152+6T>C) c.5026+6T>C (n.5026+6T>C) c.5146+6T>C (n.5146+6T>C) c.5074+6T>C (n.5074+6T>C) c.1840+6T>C (n.1840+6T>C) c.1702+6T>C (n.1702+6T>C) c.4264+6T>C (n.4264+6T>C) c.5029+6T>C (n.5029+6T>C) c.5218+6T>C (n.5218+6T>C) c.5011+6T>C (n.5011+6T>C) c.1714+6T>C (n.1714+6T>C) c.5215+6T>C (n.5215+6T>C) c.1539+6T>C c.1726+6T>C (n.1726+6T>C) c.*4935+6T>C (n.*4935+6T>C) c.1465+6T>C (n.1465+6T>C) c.82+6T>C (n.82+6T>C) c.625+6T>C (n.625+6T>C) c.-98-13678T>C (n.-98-13678T>C) n.5288+6T>C n.5329+6T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063868A>T | CA003290 | BRCA1 | c.5149+6T>A (n.5149+6T>A) c.5152+6T>A (n.5152+6T>A) c.5026+6T>A (n.5026+6T>A) c.5146+6T>A (n.5146+6T>A) c.5074+6T>A (n.5074+6T>A) c.1840+6T>A (n.1840+6T>A) c.1702+6T>A (n.1702+6T>A) c.4264+6T>A (n.4264+6T>A) c.5029+6T>A (n.5029+6T>A) c.5218+6T>A (n.5218+6T>A) c.5011+6T>A (n.5011+6T>A) c.1714+6T>A (n.1714+6T>A) c.5215+6T>A (n.5215+6T>A) c.1539+6T>A c.1726+6T>A (n.1726+6T>A) c.*4935+6T>A (n.*4935+6T>A) c.1465+6T>A (n.1465+6T>A) c.82+6T>A (n.82+6T>A) c.625+6T>A (n.625+6T>A) c.-98-13678T>A (n.-98-13678T>A) n.5288+6T>A n.5329+6T>A | ClinVar dbSNP |
17 | g.43063869C>A | CA916080122 | BRCA1 | c.5149+5G>T (n.5149+5G>T) c.5152+5G>T (n.5152+5G>T) c.5026+5G>T (n.5026+5G>T) c.5146+5G>T (n.5146+5G>T) c.5074+5G>T (n.5074+5G>T) c.1840+5G>T (n.1840+5G>T) c.1702+5G>T (n.1702+5G>T) c.4264+5G>T (n.4264+5G>T) c.5029+5G>T (n.5029+5G>T) c.5218+5G>T (n.5218+5G>T) c.5011+5G>T (n.5011+5G>T) c.1714+5G>T (n.1714+5G>T) c.5215+5G>T (n.5215+5G>T) c.1539+5G>T c.1726+5G>T (n.1726+5G>T) c.*4935+5G>T (n.*4935+5G>T) c.1465+5G>T (n.1465+5G>T) c.82+5G>T (n.82+5G>T) c.625+5G>T (n.625+5G>T) c.-98-13679G>T (n.-98-13679G>T) n.5288+5G>T n.5329+5G>T | ClinVar dbSNP |
17 | g.43063869C= | CA2260769480 | BRCA1 | c.5149+5G= (n.5149+5G=) c.5152+5G= (n.5152+5G=) c.5026+5G= (n.5026+5G=) c.5146+5G= (n.5146+5G=) c.5074+5G= (n.5074+5G=) c.1840+5G= (n.1840+5G=) c.1702+5G= (n.1702+5G=) c.4264+5G= (n.4264+5G=) c.5029+5G= (n.5029+5G=) c.5218+5G= (n.5218+5G=) c.5011+5G= (n.5011+5G=) c.1714+5G= (n.1714+5G=) c.5215+5G= (n.5215+5G=) c.1539+5G= c.1726+5G= (n.1726+5G=) c.*4935+5G= (n.*4935+5G=) c.1465+5G= (n.1465+5G=) c.82+5G= (n.82+5G=) c.625+5G= (n.625+5G=) c.-98-13679G= (n.-98-13679G=) n.5288+5G= n.5329+5G= | |
17 | g.43063869C>G | CA348506 | BRCA1 | c.5149+5G>C (n.5149+5G>C) c.5152+5G>C (n.5152+5G>C) c.5026+5G>C (n.5026+5G>C) c.5146+5G>C (n.5146+5G>C) c.5074+5G>C (n.5074+5G>C) c.1840+5G>C (n.1840+5G>C) c.1702+5G>C (n.1702+5G>C) c.4264+5G>C (n.4264+5G>C) c.5029+5G>C (n.5029+5G>C) c.5218+5G>C (n.5218+5G>C) c.5011+5G>C (n.5011+5G>C) c.1714+5G>C (n.1714+5G>C) c.5215+5G>C (n.5215+5G>C) c.1539+5G>C c.1726+5G>C (n.1726+5G>C) c.*4935+5G>C (n.*4935+5G>C) c.1465+5G>C (n.1465+5G>C) c.82+5G>C (n.82+5G>C) c.625+5G>C (n.625+5G>C) c.-98-13679G>C (n.-98-13679G>C) n.5288+5G>C n.5329+5G>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063869C>T | CA003288 | BRCA1 | c.5149+5G>A (n.5149+5G>A) c.5152+5G>A (n.5152+5G>A) c.5026+5G>A (n.5026+5G>A) c.5146+5G>A (n.5146+5G>A) c.5074+5G>A (n.5074+5G>A) c.1840+5G>A (n.1840+5G>A) c.1702+5G>A (n.1702+5G>A) c.4264+5G>A (n.4264+5G>A) c.5029+5G>A (n.5029+5G>A) c.5218+5G>A (n.5218+5G>A) c.5011+5G>A (n.5011+5G>A) c.1714+5G>A (n.1714+5G>A) c.5215+5G>A (n.5215+5G>A) c.1539+5G>A c.1726+5G>A (n.1726+5G>A) c.*4935+5G>A (n.*4935+5G>A) c.1465+5G>A (n.1465+5G>A) c.82+5G>A (n.82+5G>A) c.625+5G>A (n.625+5G>A) c.-98-13679G>A (n.-98-13679G>A) n.5288+5G>A n.5329+5G>A | ClinVar dbSNP |
17 | g.43063870T>A | CA916080124 | BRCA1 | c.5149+4A>T (n.5149+4A>T) c.5152+4A>T (n.5152+4A>T) c.5026+4A>T (n.5026+4A>T) c.5146+4A>T (n.5146+4A>T) c.5074+4A>T (n.5074+4A>T) c.1840+4A>T (n.1840+4A>T) c.1702+4A>T (n.1702+4A>T) c.4264+4A>T (n.4264+4A>T) c.5029+4A>T (n.5029+4A>T) c.5218+4A>T (n.5218+4A>T) c.5011+4A>T (n.5011+4A>T) c.1714+4A>T (n.1714+4A>T) c.5215+4A>T (n.5215+4A>T) c.1539+4A>T c.1726+4A>T (n.1726+4A>T) c.*4935+4A>T (n.*4935+4A>T) c.1465+4A>T (n.1465+4A>T) c.82+4A>T (n.82+4A>T) c.625+4A>T (n.625+4A>T) c.-98-13680A>T (n.-98-13680A>T) n.5288+4A>T n.5329+4A>T | ClinVar dbSNP |
17 | g.43063870T>C | CA003287 | BRCA1 | c.5149+4A>G (n.5149+4A>G) c.5152+4A>G (n.5152+4A>G) c.5026+4A>G (n.5026+4A>G) c.5146+4A>G (n.5146+4A>G) c.5074+4A>G (n.5074+4A>G) c.1840+4A>G (n.1840+4A>G) c.1702+4A>G (n.1702+4A>G) c.4264+4A>G (n.4264+4A>G) c.5029+4A>G (n.5029+4A>G) c.5218+4A>G (n.5218+4A>G) c.5011+4A>G (n.5011+4A>G) c.1714+4A>G (n.1714+4A>G) c.5215+4A>G (n.5215+4A>G) c.1539+4A>G c.1726+4A>G (n.1726+4A>G) c.*4935+4A>G (n.*4935+4A>G) c.1465+4A>G (n.1465+4A>G) c.82+4A>G (n.82+4A>G) c.625+4A>G (n.625+4A>G) c.-98-13680A>G (n.-98-13680A>G) n.5288+4A>G n.5329+4A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063870T>G | CA916080123 | BRCA1 | c.5149+4A>C (n.5149+4A>C) c.5152+4A>C (n.5152+4A>C) c.5026+4A>C (n.5026+4A>C) c.5146+4A>C (n.5146+4A>C) c.5074+4A>C (n.5074+4A>C) c.1840+4A>C (n.1840+4A>C) c.1702+4A>C (n.1702+4A>C) c.4264+4A>C (n.4264+4A>C) c.5029+4A>C (n.5029+4A>C) c.5218+4A>C (n.5218+4A>C) c.5011+4A>C (n.5011+4A>C) c.1714+4A>C (n.1714+4A>C) c.5215+4A>C (n.5215+4A>C) c.1539+4A>C c.1726+4A>C (n.1726+4A>C) c.*4935+4A>C (n.*4935+4A>C) c.1465+4A>C (n.1465+4A>C) c.82+4A>C (n.82+4A>C) c.625+4A>C (n.625+4A>C) c.-98-13680A>C (n.-98-13680A>C) n.5288+4A>C n.5329+4A>C | ClinVar dbSNP |
17 | g.43063870T= | CA2260769481 | BRCA1 | c.5149+4A= (n.5149+4A=) c.5152+4A= (n.5152+4A=) c.5026+4A= (n.5026+4A=) c.5146+4A= (n.5146+4A=) c.5074+4A= (n.5074+4A=) c.1840+4A= (n.1840+4A=) c.1702+4A= (n.1702+4A=) c.4264+4A= (n.4264+4A=) c.5029+4A= (n.5029+4A=) c.5218+4A= (n.5218+4A=) c.5011+4A= (n.5011+4A=) c.1714+4A= (n.1714+4A=) c.5215+4A= (n.5215+4A=) c.1539+4A= c.1726+4A= (n.1726+4A=) c.*4935+4A= (n.*4935+4A=) c.1465+4A= (n.1465+4A=) c.82+4A= (n.82+4A=) c.625+4A= (n.625+4A=) c.-98-13680A= (n.-98-13680A=) n.5288+4A= n.5329+4A= | |
17 | g.43063870_43063871insA | CA003284 | BRCA1 | c.5149+3_5149+4insT (n.5149+3_5149+4insT) c.5152+3_5152+4insT (n.5152+3_5152+4insT) c.5026+3_5026+4insT (n.5026+3_5026+4insT) c.5146+3_5146+4insT (n.5146+3_5146+4insT) c.5074+3_5074+4insT (n.5074+3_5074+4insT) c.1840+3_1840+4insT (n.1840+3_1840+4insT) c.1702+3_1702+4insT (n.1702+3_1702+4insT) c.4264+3_4264+4insT (n.4264+3_4264+4insT) c.5029+3_5029+4insT (n.5029+3_5029+4insT) c.5218+3_5218+4insT (n.5218+3_5218+4insT) c.5011+3_5011+4insT (n.5011+3_5011+4insT) c.1714+3_1714+4insT (n.1714+3_1714+4insT) c.5215+3_5215+4insT (n.5215+3_5215+4insT) c.1539+3_1539+4insT c.1726+3_1726+4insT (n.1726+3_1726+4insT) c.*4935+3_*4935+4insT (n.*4935+3_*4935+4insT) c.1465+3_1465+4insT (n.1465+3_1465+4insT) c.82+3_82+4insT (n.82+3_82+4insT) c.625+3_625+4insT (n.625+3_625+4insT) c.-98-13681_-98-13680insT (n.-98-13681_-98-13680insT) n.5288+3_5288+4insT n.5329+3_5329+4insT | ClinVar dbSNP |
17 | g.43063871T>A | CA916080125 | BRCA1 | c.5149+3A>T (n.5149+3A>T) c.5152+3A>T (n.5152+3A>T) c.5026+3A>T (n.5026+3A>T) c.5146+3A>T (n.5146+3A>T) c.5074+3A>T (n.5074+3A>T) c.1840+3A>T (n.1840+3A>T) c.1702+3A>T (n.1702+3A>T) c.4264+3A>T (n.4264+3A>T) c.5029+3A>T (n.5029+3A>T) c.5218+3A>T (n.5218+3A>T) c.5011+3A>T (n.5011+3A>T) c.1714+3A>T (n.1714+3A>T) c.5215+3A>T (n.5215+3A>T) c.1539+3A>T c.1726+3A>T (n.1726+3A>T) c.*4935+3A>T (n.*4935+3A>T) c.1465+3A>T (n.1465+3A>T) c.82+3A>T (n.82+3A>T) c.625+3A>T (n.625+3A>T) c.-98-13681A>T (n.-98-13681A>T) n.5288+3A>T n.5329+3A>T | ClinVar dbSNP |
17 | g.43063871T>C | CA916080126 | BRCA1 | c.5149+3A>G (n.5149+3A>G) c.5152+3A>G (n.5152+3A>G) c.5026+3A>G (n.5026+3A>G) c.5146+3A>G (n.5146+3A>G) c.5074+3A>G (n.5074+3A>G) c.1840+3A>G (n.1840+3A>G) c.1702+3A>G (n.1702+3A>G) c.4264+3A>G (n.4264+3A>G) c.5029+3A>G (n.5029+3A>G) c.5218+3A>G (n.5218+3A>G) c.5011+3A>G (n.5011+3A>G) c.1714+3A>G (n.1714+3A>G) c.5215+3A>G (n.5215+3A>G) c.1539+3A>G c.1726+3A>G (n.1726+3A>G) c.*4935+3A>G (n.*4935+3A>G) c.1465+3A>G (n.1465+3A>G) c.82+3A>G (n.82+3A>G) c.625+3A>G (n.625+3A>G) c.-98-13681A>G (n.-98-13681A>G) n.5288+3A>G n.5329+3A>G | ClinVar dbSNP |
17 | g.43063871T>G | CA003285 | BRCA1 | c.5149+3A>C (n.5149+3A>C) c.5152+3A>C (n.5152+3A>C) c.5026+3A>C (n.5026+3A>C) c.5146+3A>C (n.5146+3A>C) c.5074+3A>C (n.5074+3A>C) c.1840+3A>C (n.1840+3A>C) c.1702+3A>C (n.1702+3A>C) c.4264+3A>C (n.4264+3A>C) c.5029+3A>C (n.5029+3A>C) c.5218+3A>C (n.5218+3A>C) c.5011+3A>C (n.5011+3A>C) c.1714+3A>C (n.1714+3A>C) c.5215+3A>C (n.5215+3A>C) c.1539+3A>C c.1726+3A>C (n.1726+3A>C) c.*4935+3A>C (n.*4935+3A>C) c.1465+3A>C (n.1465+3A>C) c.82+3A>C (n.82+3A>C) c.625+3A>C (n.625+3A>C) c.-98-13681A>C (n.-98-13681A>C) n.5288+3A>C n.5329+3A>C | ClinVar dbSNP |
17 | g.43063871T= | CA2260769482 | BRCA1 | c.5149+3A= (n.5149+3A=) c.5152+3A= (n.5152+3A=) c.5026+3A= (n.5026+3A=) c.5146+3A= (n.5146+3A=) c.5074+3A= (n.5074+3A=) c.1840+3A= (n.1840+3A=) c.1702+3A= (n.1702+3A=) c.4264+3A= (n.4264+3A=) c.5029+3A= (n.5029+3A=) c.5218+3A= (n.5218+3A=) c.5011+3A= (n.5011+3A=) c.1714+3A= (n.1714+3A=) c.5215+3A= (n.5215+3A=) c.1539+3A= c.1726+3A= (n.1726+3A=) c.*4935+3A= (n.*4935+3A=) c.1465+3A= (n.1465+3A=) c.82+3A= (n.82+3A=) c.625+3A= (n.625+3A=) c.-98-13681A= (n.-98-13681A=) n.5288+3A= n.5329+3A= | |
17 | g.43063872A= | CA2260769483 | BRCA1 | c.5149+2T= (n.5149+2T=) c.5152+2T= (n.5152+2T=) c.5026+2T= (n.5026+2T=) c.5146+2T= (n.5146+2T=) c.5074+2T= (n.5074+2T=) c.1840+2T= (n.1840+2T=) c.1702+2T= (n.1702+2T=) c.4264+2T= (n.4264+2T=) c.5029+2T= (n.5029+2T=) c.5218+2T= (n.5218+2T=) c.5011+2T= (n.5011+2T=) c.1714+2T= (n.1714+2T=) c.5215+2T= (n.5215+2T=) c.1539+2T= c.1726+2T= (n.1726+2T=) c.*4935+2T= (n.*4935+2T=) c.1465+2T= (n.1465+2T=) c.82+2T= (n.82+2T=) c.625+2T= (n.625+2T=) c.-98-13682T= (n.-98-13682T=) n.5288+2T= n.5329+2T= | |
17 | g.43063872A>C | CA10591238 | BRCA1 | c.5149+2T>G (n.5149+2T>G) c.5152+2T>G (n.5152+2T>G) c.5026+2T>G (n.5026+2T>G) c.5146+2T>G (n.5146+2T>G) c.5074+2T>G (n.5074+2T>G) c.1840+2T>G (n.1840+2T>G) c.1702+2T>G (n.1702+2T>G) c.4264+2T>G (n.4264+2T>G) c.5029+2T>G (n.5029+2T>G) c.5218+2T>G (n.5218+2T>G) c.5011+2T>G (n.5011+2T>G) c.1714+2T>G (n.1714+2T>G) c.5215+2T>G (n.5215+2T>G) c.1539+2T>G c.1726+2T>G (n.1726+2T>G) c.*4935+2T>G (n.*4935+2T>G) c.1465+2T>G (n.1465+2T>G) c.82+2T>G (n.82+2T>G) c.625+2T>G (n.625+2T>G) c.-98-13682T>G (n.-98-13682T>G) n.5288+2T>G n.5329+2T>G | ClinVar dbSNP |
17 | g.43063872A>G | CA10591239 | BRCA1 | c.5149+2T>C (n.5149+2T>C) c.5152+2T>C (n.5152+2T>C) c.5026+2T>C (n.5026+2T>C) c.5146+2T>C (n.5146+2T>C) c.5074+2T>C (n.5074+2T>C) c.1840+2T>C (n.1840+2T>C) c.1702+2T>C (n.1702+2T>C) c.4264+2T>C (n.4264+2T>C) c.5029+2T>C (n.5029+2T>C) c.5218+2T>C (n.5218+2T>C) c.5011+2T>C (n.5011+2T>C) c.1714+2T>C (n.1714+2T>C) c.5215+2T>C (n.5215+2T>C) c.1539+2T>C c.1726+2T>C (n.1726+2T>C) c.*4935+2T>C (n.*4935+2T>C) c.1465+2T>C (n.1465+2T>C) c.82+2T>C (n.82+2T>C) c.625+2T>C (n.625+2T>C) c.-98-13682T>C (n.-98-13682T>C) n.5288+2T>C n.5329+2T>C | ClinVar dbSNP |
17 | g.43063872A>T | CA10591240 | BRCA1 | c.5149+2T>A (n.5149+2T>A) c.5152+2T>A (n.5152+2T>A) c.5026+2T>A (n.5026+2T>A) c.5146+2T>A (n.5146+2T>A) c.5074+2T>A (n.5074+2T>A) c.1840+2T>A (n.1840+2T>A) c.1702+2T>A (n.1702+2T>A) c.4264+2T>A (n.4264+2T>A) c.5029+2T>A (n.5029+2T>A) c.5218+2T>A (n.5218+2T>A) c.5011+2T>A (n.5011+2T>A) c.1714+2T>A (n.1714+2T>A) c.5215+2T>A (n.5215+2T>A) c.1539+2T>A c.1726+2T>A (n.1726+2T>A) c.*4935+2T>A (n.*4935+2T>A) c.1465+2T>A (n.1465+2T>A) c.82+2T>A (n.82+2T>A) c.625+2T>A (n.625+2T>A) c.-98-13682T>A (n.-98-13682T>A) n.5288+2T>A n.5329+2T>A | ClinVar dbSNP |
17 | g.43063872dup | CA003283 | BRCA1 | c.5149+2dup (n.5149+2dup) c.5152+2dup (n.5152+2dup) c.5026+2dup (n.5026+2dup) c.5146+2dup (n.5146+2dup) c.5074+2dup (n.5074+2dup) c.1840+2dup (n.1840+2dup) c.1702+2dup (n.1702+2dup) c.4264+2dup (n.4264+2dup) c.5029+2dup (n.5029+2dup) c.5218+2dup (n.5218+2dup) c.5011+2dup (n.5011+2dup) c.1714+2dup (n.1714+2dup) c.5215+2dup (n.5215+2dup) c.1539+2dup c.1726+2dup (n.1726+2dup) c.*4935+2dup (n.*4935+2dup) c.1465+2dup (n.1465+2dup) c.82+2dup (n.82+2dup) c.625+2dup (n.625+2dup) c.-98-13682dup (n.-98-13682dup) n.5288+2dup n.5329+2dup | ClinVar dbSNP |
17 | g.43063872_43069026del | CA2499224378 | BRCA1 | c.4984-1331_5149+2del c.4987-1331_5152+2del c.4861-1331_5026+2del c.4981-1331_5146+2del c.4909-1331_5074+2del c.1675-1331_1840+2del c.1537-1331_1702+2del c.4099-1331_4264+2del c.4864-1331_5029+2del c.5053-1331_5218+2del c.4846-1331_5011+2del c.1549-1331_1714+2del c.5050-1331_5215+2del c.1374-1331_1539+2del c.1561-1331_1726+2del c.*4770-1331_*4935+2del c.1300-1331_1465+2del c.5-5075_82+2del c.460-1331_625+2del c.-98-18836_-98-13682del (n.-98-18836_-98-13682del) n.5123-1331_5288+2del n.5164-1331_5329+2del | ClinVar |
17 | g.43063873C>A | CA003281 | BRCA1 | c.5149+1G>T (n.5149+1G>T) c.5152+1G>T (n.5152+1G>T) c.5026+1G>T (n.5026+1G>T) c.5146+1G>T (n.5146+1G>T) c.5074+1G>T (n.5074+1G>T) c.1840+1G>T (n.1840+1G>T) c.1702+1G>T (n.1702+1G>T) c.4264+1G>T (n.4264+1G>T) c.5029+1G>T (n.5029+1G>T) c.5218+1G>T (n.5218+1G>T) c.5011+1G>T (n.5011+1G>T) c.1714+1G>T (n.1714+1G>T) c.5215+1G>T (n.5215+1G>T) c.1539+1G>T c.1726+1G>T (n.1726+1G>T) c.*4935+1G>T (n.*4935+1G>T) c.1465+1G>T (n.1465+1G>T) c.82+1G>T (n.82+1G>T) c.625+1G>T (n.625+1G>T) c.-98-13683G>T (n.-98-13683G>T) n.5288+1G>T n.5329+1G>T | ClinVar dbSNP gnomAD v4 |
17 | g.43063873C= | CA2260769485 | BRCA1 | c.5149+1G= (n.5149+1G=) c.5152+1G= (n.5152+1G=) c.5026+1G= (n.5026+1G=) c.5146+1G= (n.5146+1G=) c.5074+1G= (n.5074+1G=) c.1840+1G= (n.1840+1G=) c.1702+1G= (n.1702+1G=) c.4264+1G= (n.4264+1G=) c.5029+1G= (n.5029+1G=) c.5218+1G= (n.5218+1G=) c.5011+1G= (n.5011+1G=) c.1714+1G= (n.1714+1G=) c.5215+1G= (n.5215+1G=) c.1539+1G= c.1726+1G= (n.1726+1G=) c.*4935+1G= (n.*4935+1G=) c.1465+1G= (n.1465+1G=) c.82+1G= (n.82+1G=) c.625+1G= (n.625+1G=) c.-98-13683G= (n.-98-13683G=) n.5288+1G= n.5329+1G= | |
17 | g.43063873C>G | CA003280 | BRCA1 | c.5149+1G>C (n.5149+1G>C) c.5152+1G>C (n.5152+1G>C) c.5026+1G>C (n.5026+1G>C) c.5146+1G>C (n.5146+1G>C) c.5074+1G>C (n.5074+1G>C) c.1840+1G>C (n.1840+1G>C) c.1702+1G>C (n.1702+1G>C) c.4264+1G>C (n.4264+1G>C) c.5029+1G>C (n.5029+1G>C) c.5218+1G>C (n.5218+1G>C) c.5011+1G>C (n.5011+1G>C) c.1714+1G>C (n.1714+1G>C) c.5215+1G>C (n.5215+1G>C) c.1539+1G>C c.1726+1G>C (n.1726+1G>C) c.*4935+1G>C (n.*4935+1G>C) c.1465+1G>C (n.1465+1G>C) c.82+1G>C (n.82+1G>C) c.625+1G>C (n.625+1G>C) c.-98-13683G>C (n.-98-13683G>C) n.5288+1G>C n.5329+1G>C | ClinVar dbSNP |
17 | g.43063873C>T | CA003279 | BRCA1 | c.5149+1G>A (n.5149+1G>A) c.5152+1G>A (n.5152+1G>A) c.5026+1G>A (n.5026+1G>A) c.5146+1G>A (n.5146+1G>A) c.5074+1G>A (n.5074+1G>A) c.1840+1G>A (n.1840+1G>A) c.1702+1G>A (n.1702+1G>A) c.4264+1G>A (n.4264+1G>A) c.5029+1G>A (n.5029+1G>A) c.5218+1G>A (n.5218+1G>A) c.5011+1G>A (n.5011+1G>A) c.1714+1G>A (n.1714+1G>A) c.5215+1G>A (n.5215+1G>A) c.1539+1G>A c.1726+1G>A (n.1726+1G>A) c.*4935+1G>A (n.*4935+1G>A) c.1465+1G>A (n.1465+1G>A) c.82+1G>A (n.82+1G>A) c.625+1G>A (n.625+1G>A) c.-98-13683G>A (n.-98-13683G>A) n.5288+1G>A n.5329+1G>A | ClinVar dbSNP |
17 | g.43063873_43063951delinsCAGAAATAGCTAACTACCCATTTTCCTCCCGCAATTCCTAGAAAATATTTCAGTGTCCGTTCACACACAAACTCAGCAT | CA2260769484 | BRCA1 | c.5072_5149+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5075_5152+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4949_5026+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5069_5146+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4997_5074+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1763_1840+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1625_1702+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4187_4264+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4952_5029+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5141_5218+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.4934_5011+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1637_1714+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5138_5215+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1462_1539+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1649_1726+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.*4858_*4935+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.1388_1465+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.5_82+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.548_625+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG c.-98-13761_-98-13683delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG (n.-98-13761_-98-13683delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG) n.5211_5288+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG n.5252_5329+1delinsATGCTGAGTTTGTGTGTGAACGGACACTGAAATATTTTCTAGGAATTGCGGGAGGAAAATGGGTAGTTAGCTATTTCTG | |
17 | g.43063874A= | CA2260769486 | BRCA1 | c.5149T= (p.Trp1717=) c.5152T= (p.Trp1718=) c.5026T= (p.Trp1676=) c.5146T= (p.Trp1716=) c.5074T= (p.Trp1692=) c.1840T= (p.Trp614=) c.1702T= (p.Trp568=) c.4264T= (p.Trp1422=) c.5029T= (p.Trp1677=) c.5218T= (p.Trp1740=) c.5011T= (p.Trp1671=) c.1714T= (p.Trp572=) c.5215T= (p.Trp1739=) c.1539T= c.1726T= (p.Trp576=) c.*4935T= (n.*4935T=) c.1465T= (p.Trp489=) c.82T= (p.Trp28=) c.625T= (p.Trp209=) c.-98-13684T= (n.-98-13684T=) n.5288T= n.5329T= | |
17 | g.43063874A>C | CA10591241 | BRCA1 | c.5149T>G (p.Trp1717Gly) c.5152T>G (p.Trp1718Gly) c.5026T>G (p.Trp1676Gly) c.5146T>G (p.Trp1716Gly) c.5074T>G (p.Trp1692Gly) c.1840T>G (p.Trp614Gly) c.1702T>G (p.Trp568Gly) c.4264T>G (p.Trp1422Gly) c.5029T>G (p.Trp1677Gly) c.5218T>G (p.Trp1740Gly) c.5011T>G (p.Trp1671Gly) c.1714T>G (p.Trp572Gly) c.5215T>G (p.Trp1739Gly) c.1539T>G c.1726T>G (p.Trp576Gly) c.*4935T>G (n.*4935T>G) c.1465T>G (p.Trp489Gly) c.82T>G (p.Trp28Gly) c.625T>G (p.Trp209Gly) c.-98-13684T>G (n.-98-13684T>G) n.5288T>G n.5329T>G | ClinVar dbSNP |
17 | g.43063874A>G | CA10591242 | BRCA1 | c.5149T>C (p.Trp1717Arg) c.5152T>C (p.Trp1718Arg) c.5026T>C (p.Trp1676Arg) c.5146T>C (p.Trp1716Arg) c.5074T>C (p.Trp1692Arg) c.1840T>C (p.Trp614Arg) c.1702T>C (p.Trp568Arg) c.4264T>C (p.Trp1422Arg) c.5029T>C (p.Trp1677Arg) c.5218T>C (p.Trp1740Arg) c.5011T>C (p.Trp1671Arg) c.1714T>C (p.Trp572Arg) c.5215T>C (p.Trp1739Arg) c.1539T>C c.1726T>C (p.Trp576Arg) c.*4935T>C (n.*4935T>C) c.1465T>C (p.Trp489Arg) c.82T>C (p.Trp28Arg) c.625T>C (p.Trp209Arg) c.-98-13684T>C (n.-98-13684T>C) n.5288T>C n.5329T>C | ClinVar dbSNP |
17 | g.43063874A>T | CA10591243 | BRCA1 | c.5149T>A (p.Trp1717Arg) c.5152T>A (p.Trp1718Arg) c.5026T>A (p.Trp1676Arg) c.5146T>A (p.Trp1716Arg) c.5074T>A (p.Trp1692Arg) c.1840T>A (p.Trp614Arg) c.1702T>A (p.Trp568Arg) c.4264T>A (p.Trp1422Arg) c.5029T>A (p.Trp1677Arg) c.5218T>A (p.Trp1740Arg) c.5011T>A (p.Trp1671Arg) c.1714T>A (p.Trp572Arg) c.5215T>A (p.Trp1739Arg) c.1539T>A c.1726T>A (p.Trp576Arg) c.*4935T>A (n.*4935T>A) c.1465T>A (p.Trp489Arg) c.82T>A (p.Trp28Arg) c.625T>A (p.Trp209Arg) c.-98-13684T>A (n.-98-13684T>A) n.5288T>A n.5329T>A | ClinVar dbSNP |
17 | g.43063875_43063877del | CA2733911657 | BRCA1 | c.5147_5149del (p.Phe1716del) c.5150_5152del (p.Phe1717del) c.5024_5026del (p.Phe1675del) c.5144_5146del (p.Phe1715del) c.5072_5074del (p.Phe1691del) c.1838_1840del (p.Phe613del) c.1700_1702del (p.Phe567del) c.4262_4264del (p.Phe1421del) c.5027_5029del (p.Phe1676del) c.5216_5218del (p.Phe1739del) c.5009_5011del (p.Phe1670del) c.1712_1714del (p.Phe571del) c.5213_5215del (p.Phe1738del) c.1537_1539del c.1724_1726del (p.Phe575del) c.*4933_*4935del (n.*4933_*4935del) c.1463_1465del (p.Phe488del) c.80_82del (p.Phe27del) c.623_625del (p.Phe208del) c.-98-13686_-98-13684del (n.-98-13686_-98-13684del) n.5286_5288del n.5327_5329del | dbSNP |
17 | g.43063874_43063951del | CA645373156 | BRCA1 | c.5072_5149del (p.Asp1691_Trp1717delinsGly) c.5075_5152del (p.Asp1692_Trp1718delinsGly) c.4949_5026del (p.Asp1650_Trp1676delinsGly) c.5069_5146del (p.Asp1690_Trp1716delinsGly) c.4997_5074del (p.Asp1666_Trp1692delinsGly) c.1763_1840del (p.Asp588_Trp614delinsGly) c.1625_1702del (p.Asp542_Trp568delinsGly) c.4187_4264del (p.Asp1396_Trp1422delinsGly) c.4952_5029del (p.Asp1651_Trp1677delinsGly) c.5141_5218del (p.Asp1714_Trp1740delinsGly) c.4934_5011del (p.Asp1645_Trp1671delinsGly) c.1637_1714del (p.Asp546_Trp572delinsGly) c.5138_5215del (p.Asp1713_Trp1739delinsGly) c.1462_1539del c.1649_1726del (p.Asp550_Trp576delinsGly) c.*4858_*4935del (n.*4858_*4935del) c.1388_1465del (p.Asp463_Trp489delinsGly) c.5_82del (p.Asp2_Trp28delinsGly) c.548_625del (p.Asp183_Trp209delinsGly) c.-98-13761_-98-13684del (n.-98-13761_-98-13684del) n.5211_5288del n.5252_5329del | ClinVar dbSNP |
17 | g.43063875G>A | CA500146130 | BRCA1 | c.5148C>T (p.Phe1716=) c.5151C>T (p.Phe1717=) c.5025C>T (p.Phe1675=) c.5145C>T (p.Phe1715=) c.5073C>T (p.Phe1691=) c.1839C>T (p.Phe613=) c.1701C>T (p.Phe567=) c.4263C>T (p.Phe1421=) c.5028C>T (p.Phe1676=) c.5217C>T (p.Phe1739=) c.5010C>T (p.Phe1670=) c.1713C>T (p.Phe571=) c.5214C>T (p.Phe1738=) c.1538C>T c.1725C>T (p.Phe575=) c.*4934C>T (n.*4934C>T) c.1464C>T (p.Phe488=) c.81C>T (p.Phe27=) c.624C>T (p.Phe208=) c.-98-13685C>T (n.-98-13685C>T) n.5287C>T n.5328C>T | ClinVar dbSNP |
17 | g.43063875G>C | CA10591244 | BRCA1 | c.5148C>G (p.Phe1716Leu) c.5151C>G (p.Phe1717Leu) c.5025C>G (p.Phe1675Leu) c.5145C>G (p.Phe1715Leu) c.5073C>G (p.Phe1691Leu) c.1839C>G (p.Phe613Leu) c.1701C>G (p.Phe567Leu) c.4263C>G (p.Phe1421Leu) c.5028C>G (p.Phe1676Leu) c.5217C>G (p.Phe1739Leu) c.5010C>G (p.Phe1670Leu) c.1713C>G (p.Phe571Leu) c.5214C>G (p.Phe1738Leu) c.1538C>G c.1725C>G (p.Phe575Leu) c.*4934C>G (n.*4934C>G) c.1464C>G (p.Phe488Leu) c.81C>G (p.Phe27Leu) c.624C>G (p.Phe208Leu) c.-98-13685C>G (n.-98-13685C>G) n.5287C>G n.5328C>G | ClinVar dbSNP |
17 | g.43063875G= | CA2260769488 | BRCA1 | c.5148C= (p.Phe1716=) c.5151C= (p.Phe1717=) c.5025C= (p.Phe1675=) c.5145C= (p.Phe1715=) c.5073C= (p.Phe1691=) c.1839C= (p.Phe613=) c.1701C= (p.Phe567=) c.4263C= (p.Phe1421=) c.5028C= (p.Phe1676=) c.5217C= (p.Phe1739=) c.5010C= (p.Phe1670=) c.1713C= (p.Phe571=) c.5214C= (p.Phe1738=) c.1538C= c.1725C= (p.Phe575=) c.*4934C= (n.*4934C=) c.1464C= (p.Phe488=) c.81C= (p.Phe27=) c.624C= (p.Phe208=) c.-98-13685C= (n.-98-13685C=) n.5287C= n.5328C= | |
17 | g.43063875G>T | CA10591245 | BRCA1 | c.5148C>A (p.Phe1716Leu) c.5151C>A (p.Phe1717Leu) c.5025C>A (p.Phe1675Leu) c.5145C>A (p.Phe1715Leu) c.5073C>A (p.Phe1691Leu) c.1839C>A (p.Phe613Leu) c.1701C>A (p.Phe567Leu) c.4263C>A (p.Phe1421Leu) c.5028C>A (p.Phe1676Leu) c.5217C>A (p.Phe1739Leu) c.5010C>A (p.Phe1670Leu) c.1713C>A (p.Phe571Leu) c.5214C>A (p.Phe1738Leu) c.1538C>A c.1725C>A (p.Phe575Leu) c.*4934C>A (n.*4934C>A) c.1464C>A (p.Phe488Leu) c.81C>A (p.Phe27Leu) c.624C>A (p.Phe208Leu) c.-98-13685C>A (n.-98-13685C>A) n.5287C>A n.5328C>A | ClinVar dbSNP |
17 | g.43063875_43063876delinsGA | CA2260769487 | BRCA1 | c.5147_5148delinsTC (p.Phe1716=) c.5150_5151delinsTC (p.Phe1717=) c.5024_5025delinsTC (p.Phe1675=) c.5144_5145delinsTC (p.Phe1715=) c.5072_5073delinsTC (p.Phe1691=) c.1838_1839delinsTC (p.Phe613=) c.1700_1701delinsTC (p.Phe567=) c.4262_4263delinsTC (p.Phe1421=) c.5027_5028delinsTC (p.Phe1676=) c.5216_5217delinsTC (p.Phe1739=) c.5009_5010delinsTC (p.Phe1670=) c.1712_1713delinsTC (p.Phe571=) c.5213_5214delinsTC (p.Phe1738=) c.1537_1538delinsTC c.1724_1725delinsTC (p.Phe575=) c.*4933_*4934delinsTC (n.*4933_*4934delinsTC) c.1463_1464delinsTC (p.Phe488=) c.80_81delinsTC (p.Phe27=) c.623_624delinsTC (p.Phe208=) c.-98-13686_-98-13685delinsTC (n.-98-13686_-98-13685delinsTC) n.5286_5287delinsTC n.5327_5328delinsTC | |
17 | g.43063876A= | CA2260769489 | BRCA1 | c.5147T= (p.Phe1716=) c.5150T= (p.Phe1717=) c.5024T= (p.Phe1675=) c.5144T= (p.Phe1715=) c.5072T= (p.Phe1691=) c.1838T= (p.Phe613=) c.1700T= (p.Phe567=) c.4262T= (p.Phe1421=) c.5027T= (p.Phe1676=) c.5216T= (p.Phe1739=) c.5009T= (p.Phe1670=) c.1712T= (p.Phe571=) c.5213T= (p.Phe1738=) c.1537T= c.1724T= (p.Phe575=) c.*4933T= (n.*4933T=) c.1463T= (p.Phe488=) c.80T= (p.Phe27=) c.623T= (p.Phe208=) c.-98-13686T= (n.-98-13686T=) n.5286T= n.5327T= | |
17 | g.43063876A>C | CA10591246 | BRCA1 | c.5147T>G (p.Phe1716Cys) c.5150T>G (p.Phe1717Cys) c.5024T>G (p.Phe1675Cys) c.5144T>G (p.Phe1715Cys) c.5072T>G (p.Phe1691Cys) c.1838T>G (p.Phe613Cys) c.1700T>G (p.Phe567Cys) c.4262T>G (p.Phe1421Cys) c.5027T>G (p.Phe1676Cys) c.5216T>G (p.Phe1739Cys) c.5009T>G (p.Phe1670Cys) c.1712T>G (p.Phe571Cys) c.5213T>G (p.Phe1738Cys) c.1537T>G c.1724T>G (p.Phe575Cys) c.*4933T>G (n.*4933T>G) c.1463T>G (p.Phe488Cys) c.80T>G (p.Phe27Cys) c.623T>G (p.Phe208Cys) c.-98-13686T>G (n.-98-13686T>G) n.5286T>G n.5327T>G | ClinVar dbSNP |
17 | g.43063876A>G | CA10591247 | BRCA1 | c.5147T>C (p.Phe1716Ser) c.5150T>C (p.Phe1717Ser) c.5024T>C (p.Phe1675Ser) c.5144T>C (p.Phe1715Ser) c.5072T>C (p.Phe1691Ser) c.1838T>C (p.Phe613Ser) c.1700T>C (p.Phe567Ser) c.4262T>C (p.Phe1421Ser) c.5027T>C (p.Phe1676Ser) c.5216T>C (p.Phe1739Ser) c.5009T>C (p.Phe1670Ser) c.1712T>C (p.Phe571Ser) c.5213T>C (p.Phe1738Ser) c.1537T>C c.1724T>C (p.Phe575Ser) c.*4933T>C (n.*4933T>C) c.1463T>C (p.Phe488Ser) c.80T>C (p.Phe27Ser) c.623T>C (p.Phe208Ser) c.-98-13686T>C (n.-98-13686T>C) n.5286T>C n.5327T>C | ClinVar dbSNP |
17 | g.43063876A>T | CA10591248 | BRCA1 | c.5147T>A (p.Phe1716Tyr) c.5150T>A (p.Phe1717Tyr) c.5024T>A (p.Phe1675Tyr) c.5144T>A (p.Phe1715Tyr) c.5072T>A (p.Phe1691Tyr) c.1838T>A (p.Phe613Tyr) c.1700T>A (p.Phe567Tyr) c.4262T>A (p.Phe1421Tyr) c.5027T>A (p.Phe1676Tyr) c.5216T>A (p.Phe1739Tyr) c.5009T>A (p.Phe1670Tyr) c.1712T>A (p.Phe571Tyr) c.5213T>A (p.Phe1738Tyr) c.1537T>A c.1724T>A (p.Phe575Tyr) c.*4933T>A (n.*4933T>A) c.1463T>A (p.Phe488Tyr) c.80T>A (p.Phe27Tyr) c.623T>A (p.Phe208Tyr) c.-98-13686T>A (n.-98-13686T>A) n.5286T>A n.5327T>A | ClinVar dbSNP |
17 | g.43063878dup | CA2739290976 | BRCA1 | c.5147dup (p.Trp1717LeufsTer7) c.5150dup (p.Trp1718LeufsTer7) c.5024dup (p.Trp1676LeufsTer7) c.5144dup (p.Trp1716LeufsTer7) c.5072dup (p.Trp1692LeufsTer7) c.1838dup (p.Trp614LeufsTer7) c.1700dup (p.Trp568LeufsTer7) c.4262dup (p.Trp1422LeufsTer7) c.5027dup (p.Trp1677LeufsTer7) c.5216dup (p.Trp1740LeufsTer7) c.5009dup (p.Trp1671LeufsTer7) c.1712dup (p.Trp572LeufsTer7) c.5213dup (p.Trp1739LeufsTer7) c.1537dup c.1724dup (p.Trp576LeufsTer7) c.*4933dup (n.*4933dup) c.1463dup (p.Trp489LeufsTer7) c.1700dup (p.Trp568LeufsTer?) c.80dup (p.Trp28LeufsTer7) c.623dup (p.Trp209LeufsTer7) c.-98-13686dup (n.-98-13686dup) n.5286dup n.5327dup | |
17 | g.43063878del | CA003275 | BRCA1 | c.5147del (p.Phe1716SerfsTer3) c.5150del (p.Phe1717SerfsTer3) c.5024del (p.Phe1675SerfsTer3) c.5144del (p.Phe1715SerfsTer3) c.5072del (p.Phe1691SerfsTer3) c.1838del (p.Phe613SerfsTer3) c.1700del (p.Phe567SerfsTer3) c.4262del (p.Phe1421SerfsTer3) c.5027del (p.Phe1676SerfsTer3) c.5216del (p.Phe1739SerfsTer3) c.5009del (p.Phe1670SerfsTer3) c.1712del (p.Phe571SerfsTer3) c.5213del (p.Phe1738SerfsTer3) c.1537del c.1724del (p.Phe575SerfsTer3) c.*4933del (n.*4933del) c.1463del (p.Phe488SerfsTer3) c.80del (p.Phe27SerfsTer3) c.623del (p.Phe208SerfsTer3) c.-98-13686del (n.-98-13686del) n.5286del n.5327del | ClinVar dbSNP |
17 | g.43063877A= | CA2260769490 | BRCA1 | c.5146T= (p.Phe1716=) c.5149T= (p.Phe1717=) c.5023T= (p.Phe1675=) c.5143T= (p.Phe1715=) c.5071T= (p.Phe1691=) c.1837T= (p.Phe613=) c.1699T= (p.Phe567=) c.4261T= (p.Phe1421=) c.5026T= (p.Phe1676=) c.5215T= (p.Phe1739=) c.5008T= (p.Phe1670=) c.1711T= (p.Phe571=) c.5212T= (p.Phe1738=) c.1536T= c.1723T= (p.Phe575=) c.*4932T= (n.*4932T=) c.1462T= (p.Phe488=) c.79T= (p.Phe27=) c.622T= (p.Phe208=) c.-98-13687T= (n.-98-13687T=) n.5285T= n.5326T= | |
17 | g.43063877A>C | CA10591249 | BRCA1 | c.5146T>G (p.Phe1716Val) c.5149T>G (p.Phe1717Val) c.5023T>G (p.Phe1675Val) c.5143T>G (p.Phe1715Val) c.5071T>G (p.Phe1691Val) c.1837T>G (p.Phe613Val) c.1699T>G (p.Phe567Val) c.4261T>G (p.Phe1421Val) c.5026T>G (p.Phe1676Val) c.5215T>G (p.Phe1739Val) c.5008T>G (p.Phe1670Val) c.1711T>G (p.Phe571Val) c.5212T>G (p.Phe1738Val) c.1536T>G c.1723T>G (p.Phe575Val) c.*4932T>G (n.*4932T>G) c.1462T>G (p.Phe488Val) c.79T>G (p.Phe27Val) c.622T>G (p.Phe208Val) c.-98-13687T>G (n.-98-13687T>G) n.5285T>G n.5326T>G | ClinVar dbSNP |
17 | g.43063877A>G | CA10591250 | BRCA1 | c.5146T>C (p.Phe1716Leu) c.5149T>C (p.Phe1717Leu) c.5023T>C (p.Phe1675Leu) c.5143T>C (p.Phe1715Leu) c.5071T>C (p.Phe1691Leu) c.1837T>C (p.Phe613Leu) c.1699T>C (p.Phe567Leu) c.4261T>C (p.Phe1421Leu) c.5026T>C (p.Phe1676Leu) c.5215T>C (p.Phe1739Leu) c.5008T>C (p.Phe1670Leu) c.1711T>C (p.Phe571Leu) c.5212T>C (p.Phe1738Leu) c.1536T>C c.1723T>C (p.Phe575Leu) c.*4932T>C (n.*4932T>C) c.1462T>C (p.Phe488Leu) c.79T>C (p.Phe27Leu) c.622T>C (p.Phe208Leu) c.-98-13687T>C (n.-98-13687T>C) n.5285T>C n.5326T>C | ClinVar dbSNP |
17 | g.43063877A>T | CA10591251 | BRCA1 | c.5146T>A (p.Phe1716Ile) c.5149T>A (p.Phe1717Ile) c.5023T>A (p.Phe1675Ile) c.5143T>A (p.Phe1715Ile) c.5071T>A (p.Phe1691Ile) c.1837T>A (p.Phe613Ile) c.1699T>A (p.Phe567Ile) c.4261T>A (p.Phe1421Ile) c.5026T>A (p.Phe1676Ile) c.5215T>A (p.Phe1739Ile) c.5008T>A (p.Phe1670Ile) c.1711T>A (p.Phe571Ile) c.5212T>A (p.Phe1738Ile) c.1536T>A c.1723T>A (p.Phe575Ile) c.*4932T>A (n.*4932T>A) c.1462T>A (p.Phe488Ile) c.79T>A (p.Phe27Ile) c.622T>A (p.Phe208Ile) c.-98-13687T>A (n.-98-13687T>A) n.5285T>A n.5326T>A | ClinVar dbSNP |
17 | g.43063877_43063878insG | CA658824721 | BRCA1 | c.5145_5146insC (p.Phe1716LeufsTer8) c.5148_5149insC (p.Phe1717LeufsTer8) c.5022_5023insC (p.Phe1675LeufsTer8) c.5142_5143insC (p.Phe1715LeufsTer8) c.5070_5071insC (p.Phe1691LeufsTer8) c.1836_1837insC (p.Phe613LeufsTer8) c.1698_1699insC (p.Phe567LeufsTer8) c.4260_4261insC (p.Phe1421LeufsTer8) c.5025_5026insC (p.Phe1676LeufsTer8) c.5214_5215insC (p.Phe1739LeufsTer8) c.5007_5008insC (p.Phe1670LeufsTer8) c.1710_1711insC (p.Phe571LeufsTer8) c.5211_5212insC (p.Phe1738LeufsTer8) c.1535_1536insC c.1722_1723insC (p.Phe575LeufsTer8) c.*4931_*4932insC (n.*4931_*4932insC) c.1461_1462insC (p.Phe488LeufsTer8) c.1698_1699insC (p.Phe567LeufsTer?) c.78_79insC (p.Phe27LeufsTer8) c.621_622insC (p.Phe208LeufsTer8) c.-98-13688_-98-13687insC (n.-98-13688_-98-13687insC) n.5284_5285insC n.5325_5326insC | ClinVar dbSNP |
17 | g.43063878A= | CA2260769492 | BRCA1 | c.5145T= (p.Tyr1715=) c.5148T= (p.Tyr1716=) c.5022T= (p.Tyr1674=) c.5142T= (p.Tyr1714=) c.5070T= (p.Tyr1690=) c.1836T= (p.Tyr612=) c.1698T= (p.Tyr566=) c.4260T= (p.Tyr1420=) c.5025T= (p.Tyr1675=) c.5214T= (p.Tyr1738=) c.5007T= (p.Tyr1669=) c.1710T= (p.Tyr570=) c.5211T= (p.Tyr1737=) c.1535T= c.1722T= (p.Tyr574=) c.*4931T= (n.*4931T=) c.1461T= (p.Tyr487=) c.78T= (p.Tyr26=) c.621T= (p.Tyr207=) c.-98-13688T= (n.-98-13688T=) n.5284T= n.5325T= | |
17 | g.43063878A>C | CA003272 | BRCA1 | c.5145T>G (p.Tyr1715Ter) c.5148T>G (p.Tyr1716Ter) c.5022T>G (p.Tyr1674Ter) c.5142T>G (p.Tyr1714Ter) c.5070T>G (p.Tyr1690Ter) c.1836T>G (p.Tyr612Ter) c.1698T>G (p.Tyr566Ter) c.4260T>G (p.Tyr1420Ter) c.5025T>G (p.Tyr1675Ter) c.5214T>G (p.Tyr1738Ter) c.5007T>G (p.Tyr1669Ter) c.1710T>G (p.Tyr570Ter) c.5211T>G (p.Tyr1737Ter) c.1535T>G c.1722T>G (p.Tyr574Ter) c.*4931T>G (n.*4931T>G) c.1461T>G (p.Tyr487Ter) c.78T>G (p.Tyr26Ter) c.621T>G (p.Tyr207Ter) c.-98-13688T>G (n.-98-13688T>G) n.5284T>G n.5325T>G | ClinVar dbSNP |
17 | g.43063878A>G | CA500146135 | BRCA1 | c.5145T>C (p.Tyr1715=) c.5148T>C (p.Tyr1716=) c.5022T>C (p.Tyr1674=) c.5142T>C (p.Tyr1714=) c.5070T>C (p.Tyr1690=) c.1836T>C (p.Tyr612=) c.1698T>C (p.Tyr566=) c.4260T>C (p.Tyr1420=) c.5025T>C (p.Tyr1675=) c.5214T>C (p.Tyr1738=) c.5007T>C (p.Tyr1669=) c.1710T>C (p.Tyr570=) c.5211T>C (p.Tyr1737=) c.1535T>C c.1722T>C (p.Tyr574=) c.*4931T>C (n.*4931T>C) c.1461T>C (p.Tyr487=) c.78T>C (p.Tyr26=) c.621T>C (p.Tyr207=) c.-98-13688T>C (n.-98-13688T>C) n.5284T>C n.5325T>C | ClinVar dbSNP |
17 | g.43063878A>T | CA10589616 | BRCA1 | c.5145T>A (p.Tyr1715Ter) c.5148T>A (p.Tyr1716Ter) c.5022T>A (p.Tyr1674Ter) c.5142T>A (p.Tyr1714Ter) c.5070T>A (p.Tyr1690Ter) c.1836T>A (p.Tyr612Ter) c.1698T>A (p.Tyr566Ter) c.4260T>A (p.Tyr1420Ter) c.5025T>A (p.Tyr1675Ter) c.5214T>A (p.Tyr1738Ter) c.5007T>A (p.Tyr1669Ter) c.1710T>A (p.Tyr570Ter) c.5211T>A (p.Tyr1737Ter) c.1535T>A c.1722T>A (p.Tyr574Ter) c.*4931T>A (n.*4931T>A) c.1461T>A (p.Tyr487Ter) c.78T>A (p.Tyr26Ter) c.621T>A (p.Tyr207Ter) c.-98-13688T>A (n.-98-13688T>A) n.5284T>A n.5325T>A | ClinVar dbSNP |
17 | g.43063878_43063880delinsATA | CA2260769491 | BRCA1 | c.5143_5145delinsTAT (p.Tyr1715=) c.5146_5148delinsTAT (p.Tyr1716=) c.5020_5022delinsTAT (p.Tyr1674=) c.5140_5142delinsTAT (p.Tyr1714=) c.5068_5070delinsTAT (p.Tyr1690=) c.1834_1836delinsTAT (p.Tyr612=) c.1696_1698delinsTAT (p.Tyr566=) c.4258_4260delinsTAT (p.Tyr1420=) c.5023_5025delinsTAT (p.Tyr1675=) c.5212_5214delinsTAT (p.Tyr1738=) c.5005_5007delinsTAT (p.Tyr1669=) c.1708_1710delinsTAT (p.Tyr570=) c.5209_5211delinsTAT (p.Tyr1737=) c.1533_1535delinsTAT c.1720_1722delinsTAT (p.Tyr574=) c.*4929_*4931delinsTAT (n.*4929_*4931delinsTAT) c.1459_1461delinsTAT (p.Tyr487=) c.76_78delinsTAT (p.Tyr26=) c.619_621delinsTAT (p.Tyr207=) c.-98-13690_-98-13688delinsTAT (n.-98-13690_-98-13688delinsTAT) n.5282_5284delinsTAT n.5323_5325delinsTAT | |
17 | g.43063878_43063880delinsTTT | CA658684105 | BRCA1 | c.5143_5145delinsAAA (p.Tyr1715Lys) c.5146_5148delinsAAA (p.Tyr1716Lys) c.5020_5022delinsAAA (p.Tyr1674Lys) c.5140_5142delinsAAA (p.Tyr1714Lys) c.5068_5070delinsAAA (p.Tyr1690Lys) c.1834_1836delinsAAA (p.Tyr612Lys) c.1696_1698delinsAAA (p.Tyr566Lys) c.4258_4260delinsAAA (p.Tyr1420Lys) c.5023_5025delinsAAA (p.Tyr1675Lys) c.5212_5214delinsAAA (p.Tyr1738Lys) c.5005_5007delinsAAA (p.Tyr1669Lys) c.1708_1710delinsAAA (p.Tyr570Lys) c.5209_5211delinsAAA (p.Tyr1737Lys) c.1533_1535delinsAAA c.1720_1722delinsAAA (p.Tyr574Lys) c.*4929_*4931delinsAAA (n.*4929_*4931delinsAAA) c.1459_1461delinsAAA (p.Tyr487Lys) c.76_78delinsAAA (p.Tyr26Lys) c.619_621delinsAAA (p.Tyr207Lys) c.-98-13690_-98-13688delinsAAA (n.-98-13690_-98-13688delinsAAA) n.5282_5284delinsAAA n.5323_5325delinsAAA | ClinVar dbSNP |
17 | g.43063878_43063881del | CA1139770825 | BRCA1 | c.5142_5145del (p.Tyr1715SerfsTer3) c.5145_5148del (p.Tyr1716SerfsTer3) c.5019_5022del (p.Tyr1674SerfsTer3) c.5139_5142del (p.Tyr1714SerfsTer3) c.5067_5070del (p.Tyr1690SerfsTer3) c.1833_1836del (p.Tyr612SerfsTer3) c.1695_1698del (p.Tyr566SerfsTer3) c.4257_4260del (p.Tyr1420SerfsTer3) c.5022_5025del (p.Tyr1675SerfsTer3) c.5211_5214del (p.Tyr1738SerfsTer3) c.5004_5007del (p.Tyr1669SerfsTer3) c.1707_1710del (p.Tyr570SerfsTer3) c.5208_5211del (p.Tyr1737SerfsTer3) c.1532_1535del c.1719_1722del (p.Tyr574SerfsTer3) c.*4928_*4931del (n.*4928_*4931del) c.1458_1461del (p.Tyr487SerfsTer3) c.75_78del (p.Tyr26SerfsTer3) c.618_621del (p.Tyr207SerfsTer3) c.-98-13691_-98-13688del (n.-98-13691_-98-13688del) n.5281_5284del n.5322_5325del | |
17 | g.43063878_43063879insG | CA645373157 | BRCA1 | c.5144_5145insC (p.Trp1717LeufsTer7) c.5147_5148insC (p.Trp1718LeufsTer7) c.5021_5022insC (p.Trp1676LeufsTer7) c.5141_5142insC (p.Trp1716LeufsTer7) c.5069_5070insC (p.Trp1692LeufsTer7) c.1835_1836insC (p.Trp614LeufsTer7) c.1697_1698insC (p.Trp568LeufsTer7) c.4259_4260insC (p.Trp1422LeufsTer7) c.5024_5025insC (p.Trp1677LeufsTer7) c.5213_5214insC (p.Trp1740LeufsTer7) c.5006_5007insC (p.Trp1671LeufsTer7) c.1709_1710insC (p.Trp572LeufsTer7) c.5210_5211insC (p.Trp1739LeufsTer7) c.1534_1535insC c.1721_1722insC (p.Trp576LeufsTer7) c.*4930_*4931insC (n.*4930_*4931insC) c.1460_1461insC (p.Trp489LeufsTer7) c.1697_1698insC (p.Trp568LeufsTer?) c.77_78insC (p.Trp28LeufsTer7) c.620_621insC (p.Trp209LeufsTer7) c.-98-13689_-98-13688insC (n.-98-13689_-98-13688insC) n.5283_5284insC n.5324_5325insC | ClinVar dbSNP |
17 | g.43063879T>A | CA10591252 | BRCA1 | c.5144A>T (p.Tyr1715Phe) c.5147A>T (p.Tyr1716Phe) c.5021A>T (p.Tyr1674Phe) c.5141A>T (p.Tyr1714Phe) c.5069A>T (p.Tyr1690Phe) c.1835A>T (p.Tyr612Phe) c.1697A>T (p.Tyr566Phe) c.4259A>T (p.Tyr1420Phe) c.5024A>T (p.Tyr1675Phe) c.5213A>T (p.Tyr1738Phe) c.5006A>T (p.Tyr1669Phe) c.1709A>T (p.Tyr570Phe) c.5210A>T (p.Tyr1737Phe) c.1534A>T c.1721A>T (p.Tyr574Phe) c.*4930A>T (n.*4930A>T) c.1460A>T (p.Tyr487Phe) c.77A>T (p.Tyr26Phe) c.620A>T (p.Tyr207Phe) c.-98-13689A>T (n.-98-13689A>T) n.5283A>T n.5324A>T | ClinVar dbSNP |
17 | g.43063879T>C | CA003271 | BRCA1 | c.5144A>G (p.Tyr1715Cys) c.5147A>G (p.Tyr1716Cys) c.5021A>G (p.Tyr1674Cys) c.5141A>G (p.Tyr1714Cys) c.5069A>G (p.Tyr1690Cys) c.1835A>G (p.Tyr612Cys) c.1697A>G (p.Tyr566Cys) c.4259A>G (p.Tyr1420Cys) c.5024A>G (p.Tyr1675Cys) c.5213A>G (p.Tyr1738Cys) c.5006A>G (p.Tyr1669Cys) c.1709A>G (p.Tyr570Cys) c.5210A>G (p.Tyr1737Cys) c.1534A>G c.1721A>G (p.Tyr574Cys) c.*4930A>G (n.*4930A>G) c.1460A>G (p.Tyr487Cys) c.77A>G (p.Tyr26Cys) c.620A>G (p.Tyr207Cys) c.-98-13689A>G (n.-98-13689A>G) n.5283A>G n.5324A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063879T>G | CA003270 | BRCA1 | c.5144A>C (p.Tyr1715Ser) c.5147A>C (p.Tyr1716Ser) c.5021A>C (p.Tyr1674Ser) c.5141A>C (p.Tyr1714Ser) c.5069A>C (p.Tyr1690Ser) c.1835A>C (p.Tyr612Ser) c.1697A>C (p.Tyr566Ser) c.4259A>C (p.Tyr1420Ser) c.5024A>C (p.Tyr1675Ser) c.5213A>C (p.Tyr1738Ser) c.5006A>C (p.Tyr1669Ser) c.1709A>C (p.Tyr570Ser) c.5210A>C (p.Tyr1737Ser) c.1534A>C c.1721A>C (p.Tyr574Ser) c.*4930A>C (n.*4930A>C) c.1460A>C (p.Tyr487Ser) c.77A>C (p.Tyr26Ser) c.620A>C (p.Tyr207Ser) c.-98-13689A>C (n.-98-13689A>C) n.5283A>C n.5324A>C | ClinVar dbSNP |
17 | g.43063879T= | CA2260769493 | BRCA1 | c.5144A= (p.Tyr1715=) c.5147A= (p.Tyr1716=) c.5021A= (p.Tyr1674=) c.5141A= (p.Tyr1714=) c.5069A= (p.Tyr1690=) c.1835A= (p.Tyr612=) c.1697A= (p.Tyr566=) c.4259A= (p.Tyr1420=) c.5024A= (p.Tyr1675=) c.5213A= (p.Tyr1738=) c.5006A= (p.Tyr1669=) c.1709A= (p.Tyr570=) c.5210A= (p.Tyr1737=) c.1534A= c.1721A= (p.Tyr574=) c.*4930A= (n.*4930A=) c.1460A= (p.Tyr487=) c.77A= (p.Tyr26=) c.620A= (p.Tyr207=) c.-98-13689A= (n.-98-13689A=) n.5283A= n.5324A= | |
17 | g.43063880A= | CA2260769494 | BRCA1 | c.5143T= (p.Tyr1715=) c.5146T= (p.Tyr1716=) c.5020T= (p.Tyr1674=) c.5140T= (p.Tyr1714=) c.5068T= (p.Tyr1690=) c.1834T= (p.Tyr612=) c.1696T= (p.Tyr566=) c.4258T= (p.Tyr1420=) c.5023T= (p.Tyr1675=) c.5212T= (p.Tyr1738=) c.5005T= (p.Tyr1669=) c.1708T= (p.Tyr570=) c.5209T= (p.Tyr1737=) c.1533T= c.1720T= (p.Tyr574=) c.*4929T= (n.*4929T=) c.1459T= (p.Tyr487=) c.76T= (p.Tyr26=) c.619T= (p.Tyr207=) c.-98-13690T= (n.-98-13690T=) n.5282T= n.5323T= | |
17 | g.43063880A>C | CA10591253 | BRCA1 | c.5143T>G (p.Tyr1715Asp) c.5146T>G (p.Tyr1716Asp) c.5020T>G (p.Tyr1674Asp) c.5140T>G (p.Tyr1714Asp) c.5068T>G (p.Tyr1690Asp) c.1834T>G (p.Tyr612Asp) c.1696T>G (p.Tyr566Asp) c.4258T>G (p.Tyr1420Asp) c.5023T>G (p.Tyr1675Asp) c.5212T>G (p.Tyr1738Asp) c.5005T>G (p.Tyr1669Asp) c.1708T>G (p.Tyr570Asp) c.5209T>G (p.Tyr1737Asp) c.1533T>G c.1720T>G (p.Tyr574Asp) c.*4929T>G (n.*4929T>G) c.1459T>G (p.Tyr487Asp) c.76T>G (p.Tyr26Asp) c.619T>G (p.Tyr207Asp) c.-98-13690T>G (n.-98-13690T>G) n.5282T>G n.5323T>G | ClinVar dbSNP |
17 | g.43063880A>G | CA10591254 | BRCA1 | c.5143T>C (p.Tyr1715His) c.5146T>C (p.Tyr1716His) c.5020T>C (p.Tyr1674His) c.5140T>C (p.Tyr1714His) c.5068T>C (p.Tyr1690His) c.1834T>C (p.Tyr612His) c.1696T>C (p.Tyr566His) c.4258T>C (p.Tyr1420His) c.5023T>C (p.Tyr1675His) c.5212T>C (p.Tyr1738His) c.5005T>C (p.Tyr1669His) c.1708T>C (p.Tyr570His) c.5209T>C (p.Tyr1737His) c.1533T>C c.1720T>C (p.Tyr574His) c.*4929T>C (n.*4929T>C) c.1459T>C (p.Tyr487His) c.76T>C (p.Tyr26His) c.619T>C (p.Tyr207His) c.-98-13690T>C (n.-98-13690T>C) n.5282T>C n.5323T>C | ClinVar dbSNP |
17 | g.43063880A>T | CA10591255 | BRCA1 | c.5143T>A (p.Tyr1715Asn) c.5146T>A (p.Tyr1716Asn) c.5020T>A (p.Tyr1674Asn) c.5140T>A (p.Tyr1714Asn) c.5068T>A (p.Tyr1690Asn) c.1834T>A (p.Tyr612Asn) c.1696T>A (p.Tyr566Asn) c.4258T>A (p.Tyr1420Asn) c.5023T>A (p.Tyr1675Asn) c.5212T>A (p.Tyr1738Asn) c.5005T>A (p.Tyr1669Asn) c.1708T>A (p.Tyr570Asn) c.5209T>A (p.Tyr1737Asn) c.1533T>A c.1720T>A (p.Tyr574Asn) c.*4929T>A (n.*4929T>A) c.1459T>A (p.Tyr487Asn) c.76T>A (p.Tyr26Asn) c.619T>A (p.Tyr207Asn) c.-98-13690T>A (n.-98-13690T>A) n.5282T>A n.5323T>A | ClinVar dbSNP |
17 | g.43063880_43063881delinsAG | CA2260769495 | BRCA1 | c.5142_5143delinsCT (p.Ser1714=) c.5145_5146delinsCT (p.Ser1715=) c.5019_5020delinsCT (p.Ser1673=) c.5139_5140delinsCT (p.Ser1713=) c.5067_5068delinsCT (p.Ser1689=) c.1833_1834delinsCT (p.Ser611=) c.1695_1696delinsCT (p.Ser565=) c.4257_4258delinsCT (p.Ser1419=) c.5022_5023delinsCT (p.Ser1674=) c.5211_5212delinsCT (p.Ser1737=) c.5004_5005delinsCT (p.Ser1668=) c.1707_1708delinsCT (p.Ser569=) c.5208_5209delinsCT (p.Ser1736=) c.1532_1533delinsCT c.1719_1720delinsCT (p.Ser573=) c.*4928_*4929delinsCT (n.*4928_*4929delinsCT) c.1458_1459delinsCT (p.Ser486=) c.75_76delinsCT (p.Ser25=) c.618_619delinsCT (p.Ser206=) c.-98-13691_-98-13690delinsCT (n.-98-13691_-98-13690delinsCT) n.5281_5282delinsCT n.5322_5323delinsCT | |
17 | g.43063881del | CA003269 | BRCA1 | c.5142del (p.Tyr1715IlefsTer4) c.5145del (p.Tyr1716IlefsTer4) c.5019del (p.Tyr1674IlefsTer4) c.5139del (p.Tyr1714IlefsTer4) c.5067del (p.Tyr1690IlefsTer4) c.1833del (p.Tyr612IlefsTer4) c.1695del (p.Tyr566IlefsTer4) c.4257del (p.Tyr1420IlefsTer4) c.5022del (p.Tyr1675IlefsTer4) c.5211del (p.Tyr1738IlefsTer4) c.5004del (p.Tyr1669IlefsTer4) c.1707del (p.Tyr570IlefsTer4) c.5208del (p.Tyr1737IlefsTer4) c.1532del c.1719del (p.Tyr574IlefsTer4) c.*4928del (n.*4928del) c.1458del (p.Tyr487IlefsTer4) c.75del (p.Tyr26IlefsTer4) c.618del (p.Tyr207IlefsTer4) c.-98-13691del (n.-98-13691del) n.5281del n.5322del | ClinVar dbSNP |
17 | g.43063881G>A | CA500146139 | BRCA1 | c.5142C>T (p.Ser1714=) c.5145C>T (p.Ser1715=) c.5019C>T (p.Ser1673=) c.5139C>T (p.Ser1713=) c.5067C>T (p.Ser1689=) c.1833C>T (p.Ser611=) c.1695C>T (p.Ser565=) c.4257C>T (p.Ser1419=) c.5022C>T (p.Ser1674=) c.5211C>T (p.Ser1737=) c.5004C>T (p.Ser1668=) c.1707C>T (p.Ser569=) c.5208C>T (p.Ser1736=) c.1532C>T c.1719C>T (p.Ser573=) c.*4928C>T (n.*4928C>T) c.1458C>T (p.Ser486=) c.75C>T (p.Ser25=) c.618C>T (p.Ser206=) c.-98-13691C>T (n.-98-13691C>T) n.5281C>T n.5322C>T | ClinVar dbSNP |
17 | g.43063881G>C | CA003268 | BRCA1 | c.5142C>G (p.Ser1714Arg) c.5145C>G (p.Ser1715Arg) c.5019C>G (p.Ser1673Arg) c.5139C>G (p.Ser1713Arg) c.5067C>G (p.Ser1689Arg) c.1833C>G (p.Ser611Arg) c.1695C>G (p.Ser565Arg) c.4257C>G (p.Ser1419Arg) c.5022C>G (p.Ser1674Arg) c.5211C>G (p.Ser1737Arg) c.5004C>G (p.Ser1668Arg) c.1707C>G (p.Ser569Arg) c.5208C>G (p.Ser1736Arg) c.1532C>G c.1719C>G (p.Ser573Arg) c.*4928C>G (n.*4928C>G) c.1458C>G (p.Ser486Arg) c.75C>G (p.Ser25Arg) c.618C>G (p.Ser206Arg) c.-98-13691C>G (n.-98-13691C>G) n.5281C>G n.5322C>G | ClinVar dbSNP |
17 | g.43063881G= | CA2260769496 | BRCA1 | c.5142C= (p.Ser1714=) c.5145C= (p.Ser1715=) c.5019C= (p.Ser1673=) c.5139C= (p.Ser1713=) c.5067C= (p.Ser1689=) c.1833C= (p.Ser611=) c.1695C= (p.Ser565=) c.4257C= (p.Ser1419=) c.5022C= (p.Ser1674=) c.5211C= (p.Ser1737=) c.5004C= (p.Ser1668=) c.1707C= (p.Ser569=) c.5208C= (p.Ser1736=) c.1532C= c.1719C= (p.Ser573=) c.*4928C= (n.*4928C=) c.1458C= (p.Ser486=) c.75C= (p.Ser25=) c.618C= (p.Ser206=) c.-98-13691C= (n.-98-13691C=) n.5281C= n.5322C= | |
17 | g.43063881G>T | CA003267 | BRCA1 | c.5142C>A (p.Ser1714Arg) c.5145C>A (p.Ser1715Arg) c.5019C>A (p.Ser1673Arg) c.5139C>A (p.Ser1713Arg) c.5067C>A (p.Ser1689Arg) c.1833C>A (p.Ser611Arg) c.1695C>A (p.Ser565Arg) c.4257C>A (p.Ser1419Arg) c.5022C>A (p.Ser1674Arg) c.5211C>A (p.Ser1737Arg) c.5004C>A (p.Ser1668Arg) c.1707C>A (p.Ser569Arg) c.5208C>A (p.Ser1736Arg) c.1532C>A c.1719C>A (p.Ser573Arg) c.*4928C>A (n.*4928C>A) c.1458C>A (p.Ser486Arg) c.75C>A (p.Ser25Arg) c.618C>A (p.Ser206Arg) c.-98-13691C>A (n.-98-13691C>A) n.5281C>A n.5322C>A | ClinVar dbSNP |
17 | g.43063882C>A | CA10591256 | BRCA1 | c.5141G>T (p.Ser1714Ile) c.5144G>T (p.Ser1715Ile) c.5018G>T (p.Ser1673Ile) c.5138G>T (p.Ser1713Ile) c.5066G>T (p.Ser1689Ile) c.1832G>T (p.Ser611Ile) c.1694G>T (p.Ser565Ile) c.4256G>T (p.Ser1419Ile) c.5021G>T (p.Ser1674Ile) c.5210G>T (p.Ser1737Ile) c.5003G>T (p.Ser1668Ile) c.1706G>T (p.Ser569Ile) c.5207G>T (p.Ser1736Ile) c.1531G>T c.1718G>T (p.Ser573Ile) c.*4927G>T (n.*4927G>T) c.1457G>T (p.Ser486Ile) c.74G>T (p.Ser25Ile) c.617G>T (p.Ser206Ile) c.-98-13692G>T (n.-98-13692G>T) n.5280G>T n.5321G>T | ClinVar dbSNP |
17 | g.43063882C= | CA2260769497 | BRCA1 | c.5141G= (p.Ser1714=) c.5144G= (p.Ser1715=) c.5018G= (p.Ser1673=) c.5138G= (p.Ser1713=) c.5066G= (p.Ser1689=) c.1832G= (p.Ser611=) c.1694G= (p.Ser565=) c.4256G= (p.Ser1419=) c.5021G= (p.Ser1674=) c.5210G= (p.Ser1737=) c.5003G= (p.Ser1668=) c.1706G= (p.Ser569=) c.5207G= (p.Ser1736=) c.1531G= c.1718G= (p.Ser573=) c.*4927G= (n.*4927G=) c.1457G= (p.Ser486=) c.74G= (p.Ser25=) c.617G= (p.Ser206=) c.-98-13692G= (n.-98-13692G=) n.5280G= n.5321G= | |
17 | g.43063882C>G | CA10591257 | BRCA1 | c.5141G>C (p.Ser1714Thr) c.5144G>C (p.Ser1715Thr) c.5018G>C (p.Ser1673Thr) c.5138G>C (p.Ser1713Thr) c.5066G>C (p.Ser1689Thr) c.1832G>C (p.Ser611Thr) c.1694G>C (p.Ser565Thr) c.4256G>C (p.Ser1419Thr) c.5021G>C (p.Ser1674Thr) c.5210G>C (p.Ser1737Thr) c.5003G>C (p.Ser1668Thr) c.1706G>C (p.Ser569Thr) c.5207G>C (p.Ser1736Thr) c.1531G>C c.1718G>C (p.Ser573Thr) c.*4927G>C (n.*4927G>C) c.1457G>C (p.Ser486Thr) c.74G>C (p.Ser25Thr) c.617G>C (p.Ser206Thr) c.-98-13692G>C (n.-98-13692G>C) n.5280G>C n.5321G>C | ClinVar dbSNP |
17 | g.43063882C>T | CA003266 | BRCA1 | c.5141G>A (p.Ser1714Asn) c.5144G>A (p.Ser1715Asn) c.5018G>A (p.Ser1673Asn) c.5138G>A (p.Ser1713Asn) c.5066G>A (p.Ser1689Asn) c.1832G>A (p.Ser611Asn) c.1694G>A (p.Ser565Asn) c.4256G>A (p.Ser1419Asn) c.5021G>A (p.Ser1674Asn) c.5210G>A (p.Ser1737Asn) c.5003G>A (p.Ser1668Asn) c.1706G>A (p.Ser569Asn) c.5207G>A (p.Ser1736Asn) c.1531G>A c.1718G>A (p.Ser573Asn) c.*4927G>A (n.*4927G>A) c.1457G>A (p.Ser486Asn) c.74G>A (p.Ser25Asn) c.617G>A (p.Ser206Asn) c.-98-13692G>A (n.-98-13692G>A) n.5280G>A n.5321G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43063885_43063888del | CA2499224379 | BRCA1 | c.5138_5141del (p.Val1713AlafsTer5) c.5141_5144del (p.Val1714AlafsTer5) c.5015_5018del (p.Val1672AlafsTer5) c.5135_5138del (p.Val1712AlafsTer5) c.5063_5066del (p.Val1688AlafsTer5) c.1829_1832del (p.Val610AlafsTer5) c.1691_1694del (p.Val564AlafsTer5) c.4253_4256del (p.Val1418AlafsTer5) c.5018_5021del (p.Val1673AlafsTer5) c.5207_5210del (p.Val1736AlafsTer5) c.5000_5003del (p.Val1667AlafsTer5) c.1703_1706del (p.Val568AlafsTer5) c.5204_5207del (p.Val1735AlafsTer5) c.1528_1531del c.1715_1718del (p.Val572AlafsTer5) c.*4924_*4927del (n.*4924_*4927del) c.1454_1457del (p.Val485AlafsTer5) c.71_74del (p.Val24AlafsTer5) c.614_617del (p.Val205AlafsTer5) c.-98-13695_-98-13692del (n.-98-13695_-98-13692del) n.5277_5280del n.5318_5321del | ClinVar dbSNP |
17 | g.43063883T>A | CA003265 | BRCA1 | c.5140A>T (p.Ser1714Cys) c.5143A>T (p.Ser1715Cys) c.5017A>T (p.Ser1673Cys) c.5137A>T (p.Ser1713Cys) c.5065A>T (p.Ser1689Cys) c.1831A>T (p.Ser611Cys) c.1693A>T (p.Ser565Cys) c.4255A>T (p.Ser1419Cys) c.5020A>T (p.Ser1674Cys) c.5209A>T (p.Ser1737Cys) c.5002A>T (p.Ser1668Cys) c.1705A>T (p.Ser569Cys) c.5206A>T (p.Ser1736Cys) c.1530A>T c.1717A>T (p.Ser573Cys) c.*4926A>T (n.*4926A>T) c.1456A>T (p.Ser486Cys) c.73A>T (p.Ser25Cys) c.616A>T (p.Ser206Cys) c.-98-13693A>T (n.-98-13693A>T) n.5279A>T n.5320A>T | ClinVar dbSNP |
17 | g.43063883T>C | CA10591258 | BRCA1 | c.5140A>G (p.Ser1714Gly) c.5143A>G (p.Ser1715Gly) c.5017A>G (p.Ser1673Gly) c.5137A>G (p.Ser1713Gly) c.5065A>G (p.Ser1689Gly) c.1831A>G (p.Ser611Gly) c.1693A>G (p.Ser565Gly) c.4255A>G (p.Ser1419Gly) c.5020A>G (p.Ser1674Gly) c.5209A>G (p.Ser1737Gly) c.5002A>G (p.Ser1668Gly) c.1705A>G (p.Ser569Gly) c.5206A>G (p.Ser1736Gly) c.1530A>G c.1717A>G (p.Ser573Gly) c.*4926A>G (n.*4926A>G) c.1456A>G (p.Ser486Gly) c.73A>G (p.Ser25Gly) c.616A>G (p.Ser206Gly) c.-98-13693A>G (n.-98-13693A>G) n.5279A>G n.5320A>G | ClinVar dbSNP |
17 | g.43063883T>G | CA003264 | BRCA1 | c.5140A>C (p.Ser1714Arg) c.5143A>C (p.Ser1715Arg) c.5017A>C (p.Ser1673Arg) c.5137A>C (p.Ser1713Arg) c.5065A>C (p.Ser1689Arg) c.1831A>C (p.Ser611Arg) c.1693A>C (p.Ser565Arg) c.4255A>C (p.Ser1419Arg) c.5020A>C (p.Ser1674Arg) c.5209A>C (p.Ser1737Arg) c.5002A>C (p.Ser1668Arg) c.1705A>C (p.Ser569Arg) c.5206A>C (p.Ser1736Arg) c.1530A>C c.1717A>C (p.Ser573Arg) c.*4926A>C (n.*4926A>C) c.1456A>C (p.Ser486Arg) c.73A>C (p.Ser25Arg) c.616A>C (p.Ser206Arg) c.-98-13693A>C (n.-98-13693A>C) n.5279A>C n.5320A>C | ClinVar dbSNP |
17 | g.43063883T= | CA2260769498 | BRCA1 | c.5140A= (p.Ser1714=) c.5143A= (p.Ser1715=) c.5017A= (p.Ser1673=) c.5137A= (p.Ser1713=) c.5065A= (p.Ser1689=) c.1831A= (p.Ser611=) c.1693A= (p.Ser565=) c.4255A= (p.Ser1419=) c.5020A= (p.Ser1674=) c.5209A= (p.Ser1737=) c.5002A= (p.Ser1668=) c.1705A= (p.Ser569=) c.5206A= (p.Ser1736=) c.1530A= c.1717A= (p.Ser573=) c.*4926A= (n.*4926A=) c.1456A= (p.Ser486=) c.73A= (p.Ser25=) c.616A= (p.Ser206=) c.-98-13693A= (n.-98-13693A=) n.5279A= n.5320A= | |
17 | g.43063884A= | CA2260769499 | BRCA1 | c.5139T= (p.Val1713=) c.5142T= (p.Val1714=) c.5016T= (p.Val1672=) c.5136T= (p.Val1712=) c.5064T= (p.Val1688=) c.1830T= (p.Val610=) c.1692T= (p.Val564=) c.4254T= (p.Val1418=) c.5019T= (p.Val1673=) c.5208T= (p.Val1736=) c.5001T= (p.Val1667=) c.1704T= (p.Val568=) c.5205T= (p.Val1735=) c.1529T= c.1716T= (p.Val572=) c.*4925T= (n.*4925T=) c.1455T= (p.Val485=) c.72T= (p.Val24=) c.615T= (p.Val205=) c.-98-13694T= (n.-98-13694T=) n.5278T= n.5319T= | |
17 | g.43063884A>C | CA053968 | BRCA1 | c.5139T>G (p.Val1713=) c.5142T>G (p.Val1714=) c.5016T>G (p.Val1672=) c.5136T>G (p.Val1712=) c.5064T>G (p.Val1688=) c.1830T>G (p.Val610=) c.1692T>G (p.Val564=) c.4254T>G (p.Val1418=) c.5019T>G (p.Val1673=) c.5208T>G (p.Val1736=) c.5001T>G (p.Val1667=) c.1704T>G (p.Val568=) c.5205T>G (p.Val1735=) c.1529T>G c.1716T>G (p.Val572=) c.*4925T>G (n.*4925T>G) c.1455T>G (p.Val485=) c.72T>G (p.Val24=) c.615T>G (p.Val205=) c.-98-13694T>G (n.-98-13694T>G) n.5278T>G n.5319T>G | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.43063884A>G | CA500146141 | BRCA1 | c.5139T>C (p.Val1713=) c.5142T>C (p.Val1714=) c.5016T>C (p.Val1672=) c.5136T>C (p.Val1712=) c.5064T>C (p.Val1688=) c.1830T>C (p.Val610=) c.1692T>C (p.Val564=) c.4254T>C (p.Val1418=) c.5019T>C (p.Val1673=) c.5208T>C (p.Val1736=) c.5001T>C (p.Val1667=) c.1704T>C (p.Val568=) c.5205T>C (p.Val1735=) c.1529T>C c.1716T>C (p.Val572=) c.*4925T>C (n.*4925T>C) c.1455T>C (p.Val485=) c.72T>C (p.Val24=) c.615T>C (p.Val205=) c.-98-13694T>C (n.-98-13694T>C) n.5278T>C n.5319T>C | ClinVar dbSNP |
17 | g.43063884A>T | CA500146142 | BRCA1 | c.5139T>A (p.Val1713=) c.5142T>A (p.Val1714=) c.5016T>A (p.Val1672=) c.5136T>A (p.Val1712=) c.5064T>A (p.Val1688=) c.1830T>A (p.Val610=) c.1692T>A (p.Val564=) c.4254T>A (p.Val1418=) c.5019T>A (p.Val1673=) c.5208T>A (p.Val1736=) c.5001T>A (p.Val1667=) c.1704T>A (p.Val568=) c.5205T>A (p.Val1735=) c.1529T>A c.1716T>A (p.Val572=) c.*4925T>A (n.*4925T>A) c.1455T>A (p.Val485=) c.72T>A (p.Val24=) c.615T>A (p.Val205=) c.-98-13694T>A (n.-98-13694T>A) n.5278T>A n.5319T>A | ClinVar dbSNP |
17 | g.43063885A= | CA2260769500 | BRCA1 | c.5138T= (p.Val1713=) c.5141T= (p.Val1714=) c.5015T= (p.Val1672=) c.5135T= (p.Val1712=) c.5063T= (p.Val1688=) c.1829T= (p.Val610=) c.1691T= (p.Val564=) c.4253T= (p.Val1418=) c.5018T= (p.Val1673=) c.5207T= (p.Val1736=) c.5000T= (p.Val1667=) c.1703T= (p.Val568=) c.5204T= (p.Val1735=) c.1528T= c.1715T= (p.Val572=) c.*4924T= (n.*4924T=) c.1454T= (p.Val485=) c.71T= (p.Val24=) c.614T= (p.Val205=) c.-98-13695T= (n.-98-13695T=) n.5277T= n.5318T= | |
17 | g.43063885A>C | CA003263 | BRCA1 | c.5138T>G (p.Val1713Gly) c.5141T>G (p.Val1714Gly) c.5015T>G (p.Val1672Gly) c.5135T>G (p.Val1712Gly) c.5063T>G (p.Val1688Gly) c.1829T>G (p.Val610Gly) c.1691T>G (p.Val564Gly) c.4253T>G (p.Val1418Gly) c.5018T>G (p.Val1673Gly) c.5207T>G (p.Val1736Gly) c.5000T>G (p.Val1667Gly) c.1703T>G (p.Val568Gly) c.5204T>G (p.Val1735Gly) c.1528T>G c.1715T>G (p.Val572Gly) c.*4924T>G (n.*4924T>G) c.1454T>G (p.Val485Gly) c.71T>G (p.Val24Gly) c.614T>G (p.Val205Gly) c.-98-13695T>G (n.-98-13695T>G) n.5277T>G n.5318T>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063885A>G | CA10591259 | BRCA1 | c.5138T>C (p.Val1713Ala) c.5141T>C (p.Val1714Ala) c.5015T>C (p.Val1672Ala) c.5135T>C (p.Val1712Ala) c.5063T>C (p.Val1688Ala) c.1829T>C (p.Val610Ala) c.1691T>C (p.Val564Ala) c.4253T>C (p.Val1418Ala) c.5018T>C (p.Val1673Ala) c.5207T>C (p.Val1736Ala) c.5000T>C (p.Val1667Ala) c.1703T>C (p.Val568Ala) c.5204T>C (p.Val1735Ala) c.1528T>C c.1715T>C (p.Val572Ala) c.*4924T>C (n.*4924T>C) c.1454T>C (p.Val485Ala) c.71T>C (p.Val24Ala) c.614T>C (p.Val205Ala) c.-98-13695T>C (n.-98-13695T>C) n.5277T>C n.5318T>C | ClinVar dbSNP |
17 | g.43063885A>T | CA10591260 | BRCA1 | c.5138T>A (p.Val1713Asp) c.5141T>A (p.Val1714Asp) c.5015T>A (p.Val1672Asp) c.5135T>A (p.Val1712Asp) c.5063T>A (p.Val1688Asp) c.1829T>A (p.Val610Asp) c.1691T>A (p.Val564Asp) c.4253T>A (p.Val1418Asp) c.5018T>A (p.Val1673Asp) c.5207T>A (p.Val1736Asp) c.5000T>A (p.Val1667Asp) c.1703T>A (p.Val568Asp) c.5204T>A (p.Val1735Asp) c.1528T>A c.1715T>A (p.Val572Asp) c.*4924T>A (n.*4924T>A) c.1454T>A (p.Val485Asp) c.71T>A (p.Val24Asp) c.614T>A (p.Val205Asp) c.-98-13695T>A (n.-98-13695T>A) n.5277T>A n.5318T>A | ClinVar dbSNP |
17 | g.43063885_43063886del | CA1139770768 | BRCA1 | c.5137_5138del (p.Val1713Ter) c.5140_5141del (p.Val1714Ter) c.5014_5015del (p.Val1672Ter) c.5134_5135del (p.Val1712Ter) c.5062_5063del (p.Val1688Ter) c.1828_1829del (p.Val610Ter) c.1690_1691del (p.Val564Ter) c.4252_4253del (p.Val1418Ter) c.5017_5018del (p.Val1673Ter) c.5206_5207del (p.Val1736Ter) c.4999_5000del (p.Val1667Ter) c.1702_1703del (p.Val568Ter) c.5203_5204del (p.Val1735Ter) c.1527_1528del c.1714_1715del (p.Val572Ter) c.*4923_*4924del (n.*4923_*4924del) c.1453_1454del (p.Val485Ter) c.70_71del (p.Val24Ter) c.613_614del (p.Val205Ter) c.-98-13696_-98-13695del (n.-98-13696_-98-13695del) n.5276_5277del n.5317_5318del | |
17 | g.43063886C>A | CA10591261 | BRCA1 | c.5137G>T (p.Val1713Phe) c.5140G>T (p.Val1714Phe) c.5014G>T (p.Val1672Phe) c.5134G>T (p.Val1712Phe) c.5062G>T (p.Val1688Phe) c.1828G>T (p.Val610Phe) c.1690G>T (p.Val564Phe) c.4252G>T (p.Val1418Phe) c.5017G>T (p.Val1673Phe) c.5206G>T (p.Val1736Phe) c.4999G>T (p.Val1667Phe) c.1702G>T (p.Val568Phe) c.5203G>T (p.Val1735Phe) c.1527G>T c.1714G>T (p.Val572Phe) c.*4923G>T (n.*4923G>T) c.1453G>T (p.Val485Phe) c.70G>T (p.Val24Phe) c.613G>T (p.Val205Phe) c.-98-13696G>T (n.-98-13696G>T) n.5276G>T n.5317G>T | ClinVar dbSNP |
17 | g.43063886C= | CA2260769501 | BRCA1 | c.5137G= (p.Val1713=) c.5140G= (p.Val1714=) c.5014G= (p.Val1672=) c.5134G= (p.Val1712=) c.5062G= (p.Val1688=) c.1828G= (p.Val610=) c.1690G= (p.Val564=) c.4252G= (p.Val1418=) c.5017G= (p.Val1673=) c.5206G= (p.Val1736=) c.4999G= (p.Val1667=) c.1702G= (p.Val568=) c.5203G= (p.Val1735=) c.1527G= c.1714G= (p.Val572=) c.*4923G= (n.*4923G=) c.1453G= (p.Val485=) c.70G= (p.Val24=) c.613G= (p.Val205=) c.-98-13696G= (n.-98-13696G=) n.5276G= n.5317G= | |
17 | g.43063886C>G | CA10591262 | BRCA1 | c.5137G>C (p.Val1713Leu) c.5140G>C (p.Val1714Leu) c.5014G>C (p.Val1672Leu) c.5134G>C (p.Val1712Leu) c.5062G>C (p.Val1688Leu) c.1828G>C (p.Val610Leu) c.1690G>C (p.Val564Leu) c.4252G>C (p.Val1418Leu) c.5017G>C (p.Val1673Leu) c.5206G>C (p.Val1736Leu) c.4999G>C (p.Val1667Leu) c.1702G>C (p.Val568Leu) c.5203G>C (p.Val1735Leu) c.1527G>C c.1714G>C (p.Val572Leu) c.*4923G>C (n.*4923G>C) c.1453G>C (p.Val485Leu) c.70G>C (p.Val24Leu) c.613G>C (p.Val205Leu) c.-98-13696G>C (n.-98-13696G>C) n.5276G>C n.5317G>C | ClinVar dbSNP |
17 | g.43063886C>T | CA10591263 | BRCA1 | c.5137G>A (p.Val1713Ile) c.5140G>A (p.Val1714Ile) c.5014G>A (p.Val1672Ile) c.5134G>A (p.Val1712Ile) c.5062G>A (p.Val1688Ile) c.1828G>A (p.Val610Ile) c.1690G>A (p.Val564Ile) c.4252G>A (p.Val1418Ile) c.5017G>A (p.Val1673Ile) c.5206G>A (p.Val1736Ile) c.4999G>A (p.Val1667Ile) c.1702G>A (p.Val568Ile) c.5203G>A (p.Val1735Ile) c.1527G>A c.1714G>A (p.Val572Ile) c.*4923G>A (n.*4923G>A) c.1453G>A (p.Val485Ile) c.70G>A (p.Val24Ile) c.613G>A (p.Val205Ile) c.-98-13696G>A (n.-98-13696G>A) n.5276G>A n.5317G>A | ClinVar dbSNP |
17 | g.43063887T>A | CA500146145 | BRCA1 | c.5136A>T (p.Val1712=) c.5139A>T (p.Val1713=) c.5013A>T (p.Val1671=) c.5133A>T (p.Val1711=) c.5061A>T (p.Val1687=) c.1827A>T (p.Val609=) c.1689A>T (p.Val563=) c.4251A>T (p.Val1417=) c.5016A>T (p.Val1672=) c.5205A>T (p.Val1735=) c.4998A>T (p.Val1666=) c.1701A>T (p.Val567=) c.5202A>T (p.Val1734=) c.1526A>T c.1713A>T (p.Val571=) c.*4922A>T (n.*4922A>T) c.1452A>T (p.Val484=) c.69A>T (p.Val23=) c.612A>T (p.Val204=) c.-98-13697A>T (n.-98-13697A>T) n.5275A>T n.5316A>T | ClinVar dbSNP |
17 | g.43063887T>C | CA500146147 | BRCA1 | c.5136A>G (p.Val1712=) c.5139A>G (p.Val1713=) c.5013A>G (p.Val1671=) c.5133A>G (p.Val1711=) c.5061A>G (p.Val1687=) c.1827A>G (p.Val609=) c.1689A>G (p.Val563=) c.4251A>G (p.Val1417=) c.5016A>G (p.Val1672=) c.5205A>G (p.Val1735=) c.4998A>G (p.Val1666=) c.1701A>G (p.Val567=) c.5202A>G (p.Val1734=) c.1526A>G c.1713A>G (p.Val571=) c.*4922A>G (n.*4922A>G) c.1452A>G (p.Val484=) c.69A>G (p.Val23=) c.612A>G (p.Val204=) c.-98-13697A>G (n.-98-13697A>G) n.5275A>G n.5316A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063887T>G | CA500146148 | BRCA1 | c.5136A>C (p.Val1712=) c.5139A>C (p.Val1713=) c.5013A>C (p.Val1671=) c.5133A>C (p.Val1711=) c.5061A>C (p.Val1687=) c.1827A>C (p.Val609=) c.1689A>C (p.Val563=) c.4251A>C (p.Val1417=) c.5016A>C (p.Val1672=) c.5205A>C (p.Val1735=) c.4998A>C (p.Val1666=) c.1701A>C (p.Val567=) c.5202A>C (p.Val1734=) c.1526A>C c.1713A>C (p.Val571=) c.*4922A>C (n.*4922A>C) c.1452A>C (p.Val484=) c.69A>C (p.Val23=) c.612A>C (p.Val204=) c.-98-13697A>C (n.-98-13697A>C) n.5275A>C n.5316A>C | ClinVar dbSNP |
17 | g.43063887T= | CA2260769502 | BRCA1 | c.5136A= (p.Val1712=) c.5139A= (p.Val1713=) c.5013A= (p.Val1671=) c.5133A= (p.Val1711=) c.5061A= (p.Val1687=) c.1827A= (p.Val609=) c.1689A= (p.Val563=) c.4251A= (p.Val1417=) c.5016A= (p.Val1672=) c.5205A= (p.Val1735=) c.4998A= (p.Val1666=) c.1701A= (p.Val567=) c.5202A= (p.Val1734=) c.1526A= c.1713A= (p.Val571=) c.*4922A= (n.*4922A=) c.1452A= (p.Val484=) c.69A= (p.Val23=) c.612A= (p.Val204=) c.-98-13697A= (n.-98-13697A=) n.5275A= n.5316A= | |
17 | g.43063887_43063888delinsCC | CA2573334971 | BRCA1 | c.5135_5136delinsGG (p.Val1712Gly) c.5138_5139delinsGG (p.Val1713Gly) c.5012_5013delinsGG (p.Val1671Gly) c.5132_5133delinsGG (p.Val1711Gly) c.5060_5061delinsGG (p.Val1687Gly) c.1826_1827delinsGG (p.Val609Gly) c.1688_1689delinsGG (p.Val563Gly) c.4250_4251delinsGG (p.Val1417Gly) c.5015_5016delinsGG (p.Val1672Gly) c.5204_5205delinsGG (p.Val1735Gly) c.4997_4998delinsGG (p.Val1666Gly) c.1700_1701delinsGG (p.Val567Gly) c.5201_5202delinsGG (p.Val1734Gly) c.1525_1526delinsGG c.1712_1713delinsGG (p.Val571Gly) c.*4921_*4922delinsGG (n.*4921_*4922delinsGG) c.1451_1452delinsGG (p.Val484Gly) c.68_69delinsGG (p.Val23Gly) c.611_612delinsGG (p.Val204Gly) c.-98-13698_-98-13697delinsGG (n.-98-13698_-98-13697delinsGG) n.5274_5275delinsGG n.5315_5316delinsGG | ClinVar |
17 | g.43063887_43063888delinsTA | CA2260769503 | BRCA1 | c.5135_5136delinsTA (p.Val1712=) c.5138_5139delinsTA (p.Val1713=) c.5012_5013delinsTA (p.Val1671=) c.5132_5133delinsTA (p.Val1711=) c.5060_5061delinsTA (p.Val1687=) c.1826_1827delinsTA (p.Val609=) c.1688_1689delinsTA (p.Val563=) c.4250_4251delinsTA (p.Val1417=) c.5015_5016delinsTA (p.Val1672=) c.5204_5205delinsTA (p.Val1735=) c.4997_4998delinsTA (p.Val1666=) c.1700_1701delinsTA (p.Val567=) c.5201_5202delinsTA (p.Val1734=) c.1525_1526delinsTA c.1712_1713delinsTA (p.Val571=) c.*4921_*4922delinsTA (n.*4921_*4922delinsTA) c.1451_1452delinsTA (p.Val484=) c.68_69delinsTA (p.Val23=) c.611_612delinsTA (p.Val204=) c.-98-13698_-98-13697delinsTA (n.-98-13698_-98-13697delinsTA) n.5274_5275delinsTA n.5315_5316delinsTA | |
17 | g.43063888del | CA919844102 | BRCA1 | c.5135del (p.Val1712GlufsTer7) c.5138del (p.Val1713GlufsTer7) c.5012del (p.Val1671GlufsTer7) c.5132del (p.Val1711GlufsTer7) c.5060del (p.Val1687GlufsTer7) c.1826del (p.Val609GlufsTer7) c.1688del (p.Val563GlufsTer7) c.4250del (p.Val1417GlufsTer7) c.5015del (p.Val1672GlufsTer7) c.5204del (p.Val1735GlufsTer7) c.4997del (p.Val1666GlufsTer7) c.1700del (p.Val567GlufsTer7) c.5201del (p.Val1734GlufsTer7) c.1525del c.1712del (p.Val571GlufsTer7) c.*4921del (n.*4921del) c.1451del (p.Val484GlufsTer7) c.68del (p.Val23GlufsTer7) c.611del (p.Val204GlufsTer7) c.-98-13698del (n.-98-13698del) n.5274del n.5315del | dbSNP |
17 | g.43063888A= | CA2260769504 | BRCA1 | c.5135T= (p.Val1712=) c.5138T= (p.Val1713=) c.5012T= (p.Val1671=) c.5132T= (p.Val1711=) c.5060T= (p.Val1687=) c.1826T= (p.Val609=) c.1688T= (p.Val563=) c.4250T= (p.Val1417=) c.5015T= (p.Val1672=) c.5204T= (p.Val1735=) c.4997T= (p.Val1666=) c.1700T= (p.Val567=) c.5201T= (p.Val1734=) c.1525T= c.1712T= (p.Val571=) c.*4921T= (n.*4921T=) c.1451T= (p.Val484=) c.68T= (p.Val23=) c.611T= (p.Val204=) c.-98-13698T= (n.-98-13698T=) n.5274T= n.5315T= | |
17 | g.43063888A>C | CA10591264 | BRCA1 | c.5135T>G (p.Val1712Gly) c.5138T>G (p.Val1713Gly) c.5012T>G (p.Val1671Gly) c.5132T>G (p.Val1711Gly) c.5060T>G (p.Val1687Gly) c.1826T>G (p.Val609Gly) c.1688T>G (p.Val563Gly) c.4250T>G (p.Val1417Gly) c.5015T>G (p.Val1672Gly) c.5204T>G (p.Val1735Gly) c.4997T>G (p.Val1666Gly) c.1700T>G (p.Val567Gly) c.5201T>G (p.Val1734Gly) c.1525T>G c.1712T>G (p.Val571Gly) c.*4921T>G (n.*4921T>G) c.1451T>G (p.Val484Gly) c.68T>G (p.Val23Gly) c.611T>G (p.Val204Gly) c.-98-13698T>G (n.-98-13698T>G) n.5274T>G n.5315T>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063888A>G | CA003262 | BRCA1 | c.5135T>C (p.Val1712Ala) c.5138T>C (p.Val1713Ala) c.5012T>C (p.Val1671Ala) c.5132T>C (p.Val1711Ala) c.5060T>C (p.Val1687Ala) c.1826T>C (p.Val609Ala) c.1688T>C (p.Val563Ala) c.4250T>C (p.Val1417Ala) c.5015T>C (p.Val1672Ala) c.5204T>C (p.Val1735Ala) c.4997T>C (p.Val1666Ala) c.1700T>C (p.Val567Ala) c.5201T>C (p.Val1734Ala) c.1525T>C c.1712T>C (p.Val571Ala) c.*4921T>C (n.*4921T>C) c.1451T>C (p.Val484Ala) c.68T>C (p.Val23Ala) c.611T>C (p.Val204Ala) c.-98-13698T>C (n.-98-13698T>C) n.5274T>C n.5315T>C | ClinVar dbSNP |
17 | g.43063888A>T | CA10591265 | BRCA1 | c.5135T>A (p.Val1712Glu) c.5138T>A (p.Val1713Glu) c.5012T>A (p.Val1671Glu) c.5132T>A (p.Val1711Glu) c.5060T>A (p.Val1687Glu) c.1826T>A (p.Val609Glu) c.1688T>A (p.Val563Glu) c.4250T>A (p.Val1417Glu) c.5015T>A (p.Val1672Glu) c.5204T>A (p.Val1735Glu) c.4997T>A (p.Val1666Glu) c.1700T>A (p.Val567Glu) c.5201T>A (p.Val1734Glu) c.1525T>A c.1712T>A (p.Val571Glu) c.*4921T>A (n.*4921T>A) c.1451T>A (p.Val484Glu) c.68T>A (p.Val23Glu) c.611T>A (p.Val204Glu) c.-98-13698T>A (n.-98-13698T>A) n.5274T>A n.5315T>A | ClinVar dbSNP |
17 | g.43063888_43063889delinsAC | CA2260769505 | BRCA1 | c.5134_5135delinsGT (p.Val1712=) c.5137_5138delinsGT (p.Val1713=) c.5011_5012delinsGT (p.Val1671=) c.5131_5132delinsGT (p.Val1711=) c.5059_5060delinsGT (p.Val1687=) c.1825_1826delinsGT (p.Val609=) c.1687_1688delinsGT (p.Val563=) c.4249_4250delinsGT (p.Val1417=) c.5014_5015delinsGT (p.Val1672=) c.5203_5204delinsGT (p.Val1735=) c.4996_4997delinsGT (p.Val1666=) c.1699_1700delinsGT (p.Val567=) c.5200_5201delinsGT (p.Val1734=) c.1524_1525delinsGT c.1711_1712delinsGT (p.Val571=) c.*4920_*4921delinsGT (n.*4920_*4921delinsGT) c.1450_1451delinsGT (p.Val484=) c.67_68delinsGT (p.Val23=) c.610_611delinsGT (p.Val204=) c.-98-13699_-98-13698delinsGT (n.-98-13699_-98-13698delinsGT) n.5273_5274delinsGT n.5314_5315delinsGT | |
17 | g.43063889C>A | CA10591266 | BRCA1 | c.5134G>T (p.Val1712Leu) c.5137G>T (p.Val1713Leu) c.5011G>T (p.Val1671Leu) c.5131G>T (p.Val1711Leu) c.5059G>T (p.Val1687Leu) c.1825G>T (p.Val609Leu) c.1687G>T (p.Val563Leu) c.4249G>T (p.Val1417Leu) c.5014G>T (p.Val1672Leu) c.5203G>T (p.Val1735Leu) c.4996G>T (p.Val1666Leu) c.1699G>T (p.Val567Leu) c.5200G>T (p.Val1734Leu) c.1524G>T c.1711G>T (p.Val571Leu) c.*4920G>T (n.*4920G>T) c.1450G>T (p.Val484Leu) c.67G>T (p.Val23Leu) c.610G>T (p.Val204Leu) c.-98-13699G>T (n.-98-13699G>T) n.5273G>T n.5314G>T | ClinVar dbSNP |
17 | g.43063889C= | CA2260769506 | BRCA1 | c.5134G= (p.Val1712=) c.5137G= (p.Val1713=) c.5011G= (p.Val1671=) c.5131G= (p.Val1711=) c.5059G= (p.Val1687=) c.1825G= (p.Val609=) c.1687G= (p.Val563=) c.4249G= (p.Val1417=) c.5014G= (p.Val1672=) c.5203G= (p.Val1735=) c.4996G= (p.Val1666=) c.1699G= (p.Val567=) c.5200G= (p.Val1734=) c.1524G= c.1711G= (p.Val571=) c.*4920G= (n.*4920G=) c.1450G= (p.Val484=) c.67G= (p.Val23=) c.610G= (p.Val204=) c.-98-13699G= (n.-98-13699G=) n.5273G= n.5314G= | |
17 | g.43063889C>G | CA10591267 | BRCA1 | c.5134G>C (p.Val1712Leu) c.5137G>C (p.Val1713Leu) c.5011G>C (p.Val1671Leu) c.5131G>C (p.Val1711Leu) c.5059G>C (p.Val1687Leu) c.1825G>C (p.Val609Leu) c.1687G>C (p.Val563Leu) c.4249G>C (p.Val1417Leu) c.5014G>C (p.Val1672Leu) c.5203G>C (p.Val1735Leu) c.4996G>C (p.Val1666Leu) c.1699G>C (p.Val567Leu) c.5200G>C (p.Val1734Leu) c.1524G>C c.1711G>C (p.Val571Leu) c.*4920G>C (n.*4920G>C) c.1450G>C (p.Val484Leu) c.67G>C (p.Val23Leu) c.610G>C (p.Val204Leu) c.-98-13699G>C (n.-98-13699G>C) n.5273G>C n.5314G>C | ClinVar dbSNP |
17 | g.43063889C>T | CA10591268 | BRCA1 | c.5134G>A (p.Val1712Ile) c.5137G>A (p.Val1713Ile) c.5011G>A (p.Val1671Ile) c.5131G>A (p.Val1711Ile) c.5059G>A (p.Val1687Ile) c.1825G>A (p.Val609Ile) c.1687G>A (p.Val563Ile) c.4249G>A (p.Val1417Ile) c.5014G>A (p.Val1672Ile) c.5203G>A (p.Val1735Ile) c.4996G>A (p.Val1666Ile) c.1699G>A (p.Val567Ile) c.5200G>A (p.Val1734Ile) c.1524G>A c.1711G>A (p.Val571Ile) c.*4920G>A (n.*4920G>A) c.1450G>A (p.Val484Ile) c.67G>A (p.Val23Ile) c.610G>A (p.Val204Ile) c.-98-13699G>A (n.-98-13699G>A) n.5273G>A n.5314G>A | ClinVar dbSNP |
17 | g.43063891dup | CA658798070 | BRCA1 | c.5134dup (p.Val1712GlyfsTer3) c.5137dup (p.Val1713GlyfsTer3) c.5011dup (p.Val1671GlyfsTer3) c.5131dup (p.Val1711GlyfsTer3) c.5059dup (p.Val1687GlyfsTer3) c.1825dup (p.Val609GlyfsTer3) c.1687dup (p.Val563GlyfsTer3) c.4249dup (p.Val1417GlyfsTer3) c.5014dup (p.Val1672GlyfsTer3) c.5203dup (p.Val1735GlyfsTer3) c.4996dup (p.Val1666GlyfsTer3) c.1699dup (p.Val567GlyfsTer3) c.5200dup (p.Val1734GlyfsTer3) c.1524dup c.1711dup (p.Val571GlyfsTer3) c.*4920dup (n.*4920dup) c.1450dup (p.Val484GlyfsTer3) c.67dup (p.Val23GlyfsTer3) c.610dup (p.Val204GlyfsTer3) c.-98-13699dup (n.-98-13699dup) n.5273dup n.5314dup | ClinVar dbSNP |
17 | g.43063891del | CA003261 | BRCA1 | c.5134del (p.Val1712Ter) c.5137del (p.Val1713Ter) c.5011del (p.Val1671Ter) c.5131del (p.Val1711Ter) c.5059del (p.Val1687Ter) c.1825del (p.Val609Ter) c.1687del (p.Val563Ter) c.4249del (p.Val1417Ter) c.5014del (p.Val1672Ter) c.5203del (p.Val1735Ter) c.4996del (p.Val1666Ter) c.1699del (p.Val567Ter) c.5200del (p.Val1734Ter) c.1524del c.1711del (p.Val571Ter) c.*4920del (n.*4920del) c.1450del (p.Val484Ter) c.67del (p.Val23Ter) c.610del (p.Val204Ter) c.-98-13699del (n.-98-13699del) n.5273del n.5314del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063890_43063898del | CA2573054438 | BRCA1 | c.5126_5134del (p.Gly1709_Trp1711del) c.5129_5137del (p.Gly1710_Trp1712del) c.5003_5011del (p.Gly1668_Trp1670del) c.5123_5131del (p.Gly1708_Trp1710del) c.5051_5059del (p.Gly1684_Trp1686del) c.1817_1825del (p.Gly606_Trp608del) c.1679_1687del (p.Gly560_Trp562del) c.4241_4249del (p.Gly1414_Trp1416del) c.5006_5014del (p.Gly1669_Trp1671del) c.5195_5203del (p.Gly1732_Trp1734del) c.4988_4996del (p.Gly1663_Trp1665del) c.1691_1699del (p.Gly564_Trp566del) c.5192_5200del (p.Gly1731_Trp1733del) c.1516_1524del c.1703_1711del (p.Gly568_Trp570del) c.*4912_*4920del (n.*4912_*4920del) c.1442_1450del (p.Gly481_Trp483del) c.59_67del (p.Gly20_Trp22del) c.602_610del (p.Gly201_Trp203del) c.-98-13707_-98-13699del (n.-98-13707_-98-13699del) n.5265_5273del n.5306_5314del | ClinVar dbSNP |
17 | g.43063892_43063902del | CA2580093949 | BRCA1 | c.5124_5134del (p.Gly1709SerfsTer2) c.5127_5137del (p.Gly1710SerfsTer2) c.5001_5011del (p.Gly1668SerfsTer2) c.5121_5131del (p.Gly1708SerfsTer2) c.5049_5059del (p.Gly1684SerfsTer2) c.1815_1825del (p.Gly606SerfsTer2) c.1677_1687del (p.Gly560SerfsTer2) c.4239_4249del (p.Gly1414SerfsTer2) c.5004_5014del (p.Gly1669SerfsTer2) c.5193_5203del (p.Gly1732SerfsTer2) c.4986_4996del (p.Gly1663SerfsTer2) c.1689_1699del (p.Gly564SerfsTer2) c.5190_5200del (p.Gly1731SerfsTer2) c.1514_1524del c.1701_1711del (p.Gly568SerfsTer2) c.*4910_*4920del (n.*4910_*4920del) c.1440_1450del (p.Gly481SerfsTer2) c.57_67del (p.Gly20SerfsTer2) c.600_610del (p.Gly201SerfsTer2) c.-98-13709_-98-13699del (n.-98-13709_-98-13699del) n.5263_5273del n.5304_5314del | ClinVar |
17 | g.43063890C>A | CA10591269 | BRCA1 | c.5133G>T (p.Trp1711Cys) c.5136G>T (p.Trp1712Cys) c.5010G>T (p.Trp1670Cys) c.5130G>T (p.Trp1710Cys) c.5058G>T (p.Trp1686Cys) c.1824G>T (p.Trp608Cys) c.1686G>T (p.Trp562Cys) c.4248G>T (p.Trp1416Cys) c.5013G>T (p.Trp1671Cys) c.5202G>T (p.Trp1734Cys) c.4995G>T (p.Trp1665Cys) c.1698G>T (p.Trp566Cys) c.5199G>T (p.Trp1733Cys) c.1523G>T c.1710G>T (p.Trp570Cys) c.*4919G>T (n.*4919G>T) c.1449G>T (p.Trp483Cys) c.66G>T (p.Trp22Cys) c.609G>T (p.Trp203Cys) c.-98-13700G>T (n.-98-13700G>T) n.5272G>T n.5313G>T | ClinVar dbSNP |
17 | g.43063890C= | CA2260769507 | BRCA1 | c.5133G= (p.Trp1711=) c.5136G= (p.Trp1712=) c.5010G= (p.Trp1670=) c.5130G= (p.Trp1710=) c.5058G= (p.Trp1686=) c.1824G= (p.Trp608=) c.1686G= (p.Trp562=) c.4248G= (p.Trp1416=) c.5013G= (p.Trp1671=) c.5202G= (p.Trp1734=) c.4995G= (p.Trp1665=) c.1698G= (p.Trp566=) c.5199G= (p.Trp1733=) c.1523G= c.1710G= (p.Trp570=) c.*4919G= (n.*4919G=) c.1449G= (p.Trp483=) c.66G= (p.Trp22=) c.609G= (p.Trp203=) c.-98-13700G= (n.-98-13700G=) n.5272G= n.5313G= | |
17 | g.43063890C>G | CA10591270 | BRCA1 | c.5133G>C (p.Trp1711Cys) c.5136G>C (p.Trp1712Cys) c.5010G>C (p.Trp1670Cys) c.5130G>C (p.Trp1710Cys) c.5058G>C (p.Trp1686Cys) c.1824G>C (p.Trp608Cys) c.1686G>C (p.Trp562Cys) c.4248G>C (p.Trp1416Cys) c.5013G>C (p.Trp1671Cys) c.5202G>C (p.Trp1734Cys) c.4995G>C (p.Trp1665Cys) c.1698G>C (p.Trp566Cys) c.5199G>C (p.Trp1733Cys) c.1523G>C c.1710G>C (p.Trp570Cys) c.*4919G>C (n.*4919G>C) c.1449G>C (p.Trp483Cys) c.66G>C (p.Trp22Cys) c.609G>C (p.Trp203Cys) c.-98-13700G>C (n.-98-13700G>C) n.5272G>C n.5313G>C | ClinVar dbSNP |
17 | g.43063890C>T | CA003260 | BRCA1 | c.5133G>A (p.Trp1711Ter) c.5136G>A (p.Trp1712Ter) c.5010G>A (p.Trp1670Ter) c.5130G>A (p.Trp1710Ter) c.5058G>A (p.Trp1686Ter) c.1824G>A (p.Trp608Ter) c.1686G>A (p.Trp562Ter) c.4248G>A (p.Trp1416Ter) c.5013G>A (p.Trp1671Ter) c.5202G>A (p.Trp1734Ter) c.4995G>A (p.Trp1665Ter) c.1698G>A (p.Trp566Ter) c.5199G>A (p.Trp1733Ter) c.1523G>A c.1710G>A (p.Trp570Ter) c.*4919G>A (n.*4919G>A) c.1449G>A (p.Trp483Ter) c.66G>A (p.Trp22Ter) c.609G>A (p.Trp203Ter) c.-98-13700G>A (n.-98-13700G>A) n.5272G>A n.5313G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063891C>A | CA10591271 | BRCA1 | c.5132G>T (p.Trp1711Leu) c.5135G>T (p.Trp1712Leu) c.5009G>T (p.Trp1670Leu) c.5129G>T (p.Trp1710Leu) c.5057G>T (p.Trp1686Leu) c.1823G>T (p.Trp608Leu) c.1685G>T (p.Trp562Leu) c.4247G>T (p.Trp1416Leu) c.5012G>T (p.Trp1671Leu) c.5201G>T (p.Trp1734Leu) c.4994G>T (p.Trp1665Leu) c.1697G>T (p.Trp566Leu) c.5198G>T (p.Trp1733Leu) c.1522G>T c.1709G>T (p.Trp570Leu) c.*4918G>T (n.*4918G>T) c.1448G>T (p.Trp483Leu) c.65G>T (p.Trp22Leu) c.608G>T (p.Trp203Leu) c.-98-13701G>T (n.-98-13701G>T) n.5271G>T n.5312G>T | ClinVar dbSNP |
17 | g.43063891C= | CA2260769508 | BRCA1 | c.5132G= (p.Trp1711=) c.5135G= (p.Trp1712=) c.5009G= (p.Trp1670=) c.5129G= (p.Trp1710=) c.5057G= (p.Trp1686=) c.1823G= (p.Trp608=) c.1685G= (p.Trp562=) c.4247G= (p.Trp1416=) c.5012G= (p.Trp1671=) c.5201G= (p.Trp1734=) c.4994G= (p.Trp1665=) c.1697G= (p.Trp566=) c.5198G= (p.Trp1733=) c.1522G= c.1709G= (p.Trp570=) c.*4918G= (n.*4918G=) c.1448G= (p.Trp483=) c.65G= (p.Trp22=) c.608G= (p.Trp203=) c.-98-13701G= (n.-98-13701G=) n.5271G= n.5312G= | |
17 | g.43063891C>G | CA10591272 | BRCA1 | c.5132G>C (p.Trp1711Ser) c.5135G>C (p.Trp1712Ser) c.5009G>C (p.Trp1670Ser) c.5129G>C (p.Trp1710Ser) c.5057G>C (p.Trp1686Ser) c.1823G>C (p.Trp608Ser) c.1685G>C (p.Trp562Ser) c.4247G>C (p.Trp1416Ser) c.5012G>C (p.Trp1671Ser) c.5201G>C (p.Trp1734Ser) c.4994G>C (p.Trp1665Ser) c.1697G>C (p.Trp566Ser) c.5198G>C (p.Trp1733Ser) c.1522G>C c.1709G>C (p.Trp570Ser) c.*4918G>C (n.*4918G>C) c.1448G>C (p.Trp483Ser) c.65G>C (p.Trp22Ser) c.608G>C (p.Trp203Ser) c.-98-13701G>C (n.-98-13701G>C) n.5271G>C n.5312G>C | ClinVar dbSNP |
17 | g.43063891C>T | CA10580498 | BRCA1 | c.5132G>A (p.Trp1711Ter) c.5135G>A (p.Trp1712Ter) c.5009G>A (p.Trp1670Ter) c.5129G>A (p.Trp1710Ter) c.5057G>A (p.Trp1686Ter) c.1823G>A (p.Trp608Ter) c.1685G>A (p.Trp562Ter) c.4247G>A (p.Trp1416Ter) c.5012G>A (p.Trp1671Ter) c.5201G>A (p.Trp1734Ter) c.4994G>A (p.Trp1665Ter) c.1697G>A (p.Trp566Ter) c.5198G>A (p.Trp1733Ter) c.1522G>A c.1709G>A (p.Trp570Ter) c.*4918G>A (n.*4918G>A) c.1448G>A (p.Trp483Ter) c.65G>A (p.Trp22Ter) c.608G>A (p.Trp203Ter) c.-98-13701G>A (n.-98-13701G>A) n.5271G>A n.5312G>A | ClinVar dbSNP |
17 | g.43063892A= | CA2260769510 | BRCA1 | c.5131T= (p.Trp1711=) c.5134T= (p.Trp1712=) c.5008T= (p.Trp1670=) c.5128T= (p.Trp1710=) c.5056T= (p.Trp1686=) c.1822T= (p.Trp608=) c.1684T= (p.Trp562=) c.4246T= (p.Trp1416=) c.5011T= (p.Trp1671=) c.5200T= (p.Trp1734=) c.4993T= (p.Trp1665=) c.1696T= (p.Trp566=) c.5197T= (p.Trp1733=) c.1521T= c.1708T= (p.Trp570=) c.*4917T= (n.*4917T=) c.1447T= (p.Trp483=) c.64T= (p.Trp22=) c.607T= (p.Trp203=) c.-98-13702T= (n.-98-13702T=) n.5270T= n.5311T= | |
17 | g.43063892A>C | CA10591273 | BRCA1 | c.5131T>G (p.Trp1711Gly) c.5134T>G (p.Trp1712Gly) c.5008T>G (p.Trp1670Gly) c.5128T>G (p.Trp1710Gly) c.5056T>G (p.Trp1686Gly) c.1822T>G (p.Trp608Gly) c.1684T>G (p.Trp562Gly) c.4246T>G (p.Trp1416Gly) c.5011T>G (p.Trp1671Gly) c.5200T>G (p.Trp1734Gly) c.4993T>G (p.Trp1665Gly) c.1696T>G (p.Trp566Gly) c.5197T>G (p.Trp1733Gly) c.1521T>G c.1708T>G (p.Trp570Gly) c.*4917T>G (n.*4917T>G) c.1447T>G (p.Trp483Gly) c.64T>G (p.Trp22Gly) c.607T>G (p.Trp203Gly) c.-98-13702T>G (n.-98-13702T>G) n.5270T>G n.5311T>G | ClinVar dbSNP |
17 | g.43063892A>G | CA10591274 | BRCA1 | c.5131T>C (p.Trp1711Arg) c.5134T>C (p.Trp1712Arg) c.5008T>C (p.Trp1670Arg) c.5128T>C (p.Trp1710Arg) c.5056T>C (p.Trp1686Arg) c.1822T>C (p.Trp608Arg) c.1684T>C (p.Trp562Arg) c.4246T>C (p.Trp1416Arg) c.5011T>C (p.Trp1671Arg) c.5200T>C (p.Trp1734Arg) c.4993T>C (p.Trp1665Arg) c.1696T>C (p.Trp566Arg) c.5197T>C (p.Trp1733Arg) c.1521T>C c.1708T>C (p.Trp570Arg) c.*4917T>C (n.*4917T>C) c.1447T>C (p.Trp483Arg) c.64T>C (p.Trp22Arg) c.607T>C (p.Trp203Arg) c.-98-13702T>C (n.-98-13702T>C) n.5270T>C n.5311T>C | ClinVar dbSNP |
17 | g.43063892A>T | CA10591275 | BRCA1 | c.5131T>A (p.Trp1711Arg) c.5134T>A (p.Trp1712Arg) c.5008T>A (p.Trp1670Arg) c.5128T>A (p.Trp1710Arg) c.5056T>A (p.Trp1686Arg) c.1822T>A (p.Trp608Arg) c.1684T>A (p.Trp562Arg) c.4246T>A (p.Trp1416Arg) c.5011T>A (p.Trp1671Arg) c.5200T>A (p.Trp1734Arg) c.4993T>A (p.Trp1665Arg) c.1696T>A (p.Trp566Arg) c.5197T>A (p.Trp1733Arg) c.1521T>A c.1708T>A (p.Trp570Arg) c.*4917T>A (n.*4917T>A) c.1447T>A (p.Trp483Arg) c.64T>A (p.Trp22Arg) c.607T>A (p.Trp203Arg) c.-98-13702T>A (n.-98-13702T>A) n.5270T>A n.5311T>A | ClinVar dbSNP |
17 | g.43063892_43063893delinsAT | CA2260769509 | BRCA1 | c.5130_5131delinsAT (p.Lys1710=) c.5133_5134delinsAT (p.Lys1711=) c.5007_5008delinsAT (p.Lys1669=) c.5127_5128delinsAT (p.Lys1709=) c.5055_5056delinsAT (p.Lys1685=) c.1821_1822delinsAT (p.Lys607=) c.1683_1684delinsAT (p.Lys561=) c.4245_4246delinsAT (p.Lys1415=) c.5010_5011delinsAT (p.Lys1670=) c.5199_5200delinsAT (p.Lys1733=) c.4992_4993delinsAT (p.Lys1664=) c.1695_1696delinsAT (p.Lys565=) c.5196_5197delinsAT (p.Lys1732=) c.1520_1521delinsAT c.1707_1708delinsAT (p.Lys569=) c.*4916_*4917delinsAT (n.*4916_*4917delinsAT) c.1446_1447delinsAT (p.Lys482=) c.63_64delinsAT (p.Lys21=) c.606_607delinsAT (p.Lys202=) c.-98-13703_-98-13702delinsAT (n.-98-13703_-98-13702delinsAT) n.5269_5270delinsAT n.5310_5311delinsAT | |
17 | g.43063893T>A | CA10591276 | BRCA1 | c.5130A>T (p.Lys1710Asn) c.5133A>T (p.Lys1711Asn) c.5007A>T (p.Lys1669Asn) c.5127A>T (p.Lys1709Asn) c.5055A>T (p.Lys1685Asn) c.1821A>T (p.Lys607Asn) c.1683A>T (p.Lys561Asn) c.4245A>T (p.Lys1415Asn) c.5010A>T (p.Lys1670Asn) c.5199A>T (p.Lys1733Asn) c.4992A>T (p.Lys1664Asn) c.1695A>T (p.Lys565Asn) c.5196A>T (p.Lys1732Asn) c.1520A>T c.1707A>T (p.Lys569Asn) c.*4916A>T (n.*4916A>T) c.1446A>T (p.Lys482Asn) c.63A>T (p.Lys21Asn) c.606A>T (p.Lys202Asn) c.-98-13703A>T (n.-98-13703A>T) n.5269A>T n.5310A>T | ClinVar dbSNP |
17 | g.43063893T>C | CA500146157 | BRCA1 | c.5130A>G (p.Lys1710=) c.5133A>G (p.Lys1711=) c.5007A>G (p.Lys1669=) c.5127A>G (p.Lys1709=) c.5055A>G (p.Lys1685=) c.1821A>G (p.Lys607=) c.1683A>G (p.Lys561=) c.4245A>G (p.Lys1415=) c.5010A>G (p.Lys1670=) c.5199A>G (p.Lys1733=) c.4992A>G (p.Lys1664=) c.1695A>G (p.Lys565=) c.5196A>G (p.Lys1732=) c.1520A>G c.1707A>G (p.Lys569=) c.*4916A>G (n.*4916A>G) c.1446A>G (p.Lys482=) c.63A>G (p.Lys21=) c.606A>G (p.Lys202=) c.-98-13703A>G (n.-98-13703A>G) n.5269A>G n.5310A>G | ClinVar dbSNP |
17 | g.43063893T>G | CA10591277 | BRCA1 | c.5130A>C (p.Lys1710Asn) c.5133A>C (p.Lys1711Asn) c.5007A>C (p.Lys1669Asn) c.5127A>C (p.Lys1709Asn) c.5055A>C (p.Lys1685Asn) c.1821A>C (p.Lys607Asn) c.1683A>C (p.Lys561Asn) c.4245A>C (p.Lys1415Asn) c.5010A>C (p.Lys1670Asn) c.5199A>C (p.Lys1733Asn) c.4992A>C (p.Lys1664Asn) c.1695A>C (p.Lys565Asn) c.5196A>C (p.Lys1732Asn) c.1520A>C c.1707A>C (p.Lys569Asn) c.*4916A>C (n.*4916A>C) c.1446A>C (p.Lys482Asn) c.63A>C (p.Lys21Asn) c.606A>C (p.Lys202Asn) c.-98-13703A>C (n.-98-13703A>C) n.5269A>C n.5310A>C | ClinVar dbSNP |
17 | g.43063893T= | CA2260769511 | BRCA1 | c.5130A= (p.Lys1710=) c.5133A= (p.Lys1711=) c.5007A= (p.Lys1669=) c.5127A= (p.Lys1709=) c.5055A= (p.Lys1685=) c.1821A= (p.Lys607=) c.1683A= (p.Lys561=) c.4245A= (p.Lys1415=) c.5010A= (p.Lys1670=) c.5199A= (p.Lys1733=) c.4992A= (p.Lys1664=) c.1695A= (p.Lys565=) c.5196A= (p.Lys1732=) c.1520A= c.1707A= (p.Lys569=) c.*4916A= (n.*4916A=) c.1446A= (p.Lys482=) c.63A= (p.Lys21=) c.606A= (p.Lys202=) c.-98-13703A= (n.-98-13703A=) n.5269A= n.5310A= | |
17 | g.43063896dup | CA10586603 | BRCA1 | c.5130dup (p.Trp1711MetfsTer4) c.5133dup (p.Trp1712MetfsTer4) c.5007dup (p.Trp1670MetfsTer4) c.5127dup (p.Trp1710MetfsTer4) c.5055dup (p.Trp1686MetfsTer4) c.1821dup (p.Trp608MetfsTer4) c.1683dup (p.Trp562MetfsTer4) c.4245dup (p.Trp1416MetfsTer4) c.5010dup (p.Trp1671MetfsTer4) c.5199dup (p.Trp1734MetfsTer4) c.4992dup (p.Trp1665MetfsTer4) c.1695dup (p.Trp566MetfsTer4) c.5196dup (p.Trp1733MetfsTer4) c.1520dup c.1707dup (p.Trp570MetfsTer4) c.*4916dup (n.*4916dup) c.1446dup (p.Trp483MetfsTer4) c.63dup (p.Trp22MetfsTer4) c.606dup (p.Trp203MetfsTer4) c.-98-13703dup (n.-98-13703dup) n.5269dup n.5310dup | ClinVar dbSNP |
17 | g.43063896del | CA003259 | BRCA1 | c.5130del (p.Lys1710AsnfsTer3) c.5133del (p.Lys1711AsnfsTer3) c.5007del (p.Lys1669AsnfsTer3) c.5127del (p.Lys1709AsnfsTer3) c.5055del (p.Lys1685AsnfsTer3) c.1821del (p.Lys607AsnfsTer3) c.1683del (p.Lys561AsnfsTer3) c.4245del (p.Lys1415AsnfsTer3) c.5010del (p.Lys1670AsnfsTer3) c.5199del (p.Lys1733AsnfsTer3) c.4992del (p.Lys1664AsnfsTer3) c.1695del (p.Lys565AsnfsTer3) c.5196del (p.Lys1732AsnfsTer3) c.1520del c.1707del (p.Lys569AsnfsTer3) c.*4916del (n.*4916del) c.1446del (p.Lys482AsnfsTer3) c.63del (p.Lys21AsnfsTer3) c.606del (p.Lys202AsnfsTer3) c.-98-13703del (n.-98-13703del) n.5269del n.5310del | ClinVar dbSNP gnomAD v4 |
17 | g.43063894T>A | CA10591278 | BRCA1 | c.5129A>T (p.Lys1710Ile) c.5132A>T (p.Lys1711Ile) c.5006A>T (p.Lys1669Ile) c.5126A>T (p.Lys1709Ile) c.5054A>T (p.Lys1685Ile) c.1820A>T (p.Lys607Ile) c.1682A>T (p.Lys561Ile) c.4244A>T (p.Lys1415Ile) c.5009A>T (p.Lys1670Ile) c.5198A>T (p.Lys1733Ile) c.4991A>T (p.Lys1664Ile) c.1694A>T (p.Lys565Ile) c.5195A>T (p.Lys1732Ile) c.1519A>T c.1706A>T (p.Lys569Ile) c.*4915A>T (n.*4915A>T) c.1445A>T (p.Lys482Ile) c.62A>T (p.Lys21Ile) c.605A>T (p.Lys202Ile) c.-98-13704A>T (n.-98-13704A>T) n.5268A>T n.5309A>T | ClinVar dbSNP |
17 | g.43063894T>C | CA10591279 | BRCA1 | c.5129A>G (p.Lys1710Arg) c.5132A>G (p.Lys1711Arg) c.5006A>G (p.Lys1669Arg) c.5126A>G (p.Lys1709Arg) c.5054A>G (p.Lys1685Arg) c.1820A>G (p.Lys607Arg) c.1682A>G (p.Lys561Arg) c.4244A>G (p.Lys1415Arg) c.5009A>G (p.Lys1670Arg) c.5198A>G (p.Lys1733Arg) c.4991A>G (p.Lys1664Arg) c.1694A>G (p.Lys565Arg) c.5195A>G (p.Lys1732Arg) c.1519A>G c.1706A>G (p.Lys569Arg) c.*4915A>G (n.*4915A>G) c.1445A>G (p.Lys482Arg) c.62A>G (p.Lys21Arg) c.605A>G (p.Lys202Arg) c.-98-13704A>G (n.-98-13704A>G) n.5268A>G n.5309A>G | ClinVar dbSNP COSMIC COSMIC |
17 | g.43063894T>G | CA10591280 | BRCA1 | c.5129A>C (p.Lys1710Thr) c.5132A>C (p.Lys1711Thr) c.5006A>C (p.Lys1669Thr) c.5126A>C (p.Lys1709Thr) c.5054A>C (p.Lys1685Thr) c.1820A>C (p.Lys607Thr) c.1682A>C (p.Lys561Thr) c.4244A>C (p.Lys1415Thr) c.5009A>C (p.Lys1670Thr) c.5198A>C (p.Lys1733Thr) c.4991A>C (p.Lys1664Thr) c.1694A>C (p.Lys565Thr) c.5195A>C (p.Lys1732Thr) c.1519A>C c.1706A>C (p.Lys569Thr) c.*4915A>C (n.*4915A>C) c.1445A>C (p.Lys482Thr) c.62A>C (p.Lys21Thr) c.605A>C (p.Lys202Thr) c.-98-13704A>C (n.-98-13704A>C) n.5268A>C n.5309A>C | ClinVar dbSNP |
17 | g.43063894T= | CA2260769512 | BRCA1 | c.5129A= (p.Lys1710=) c.5132A= (p.Lys1711=) c.5006A= (p.Lys1669=) c.5126A= (p.Lys1709=) c.5054A= (p.Lys1685=) c.1820A= (p.Lys607=) c.1682A= (p.Lys561=) c.4244A= (p.Lys1415=) c.5009A= (p.Lys1670=) c.5198A= (p.Lys1733=) c.4991A= (p.Lys1664=) c.1694A= (p.Lys565=) c.5195A= (p.Lys1732=) c.1519A= c.1706A= (p.Lys569=) c.*4915A= (n.*4915A=) c.1445A= (p.Lys482=) c.62A= (p.Lys21=) c.605A= (p.Lys202=) c.-98-13704A= (n.-98-13704A=) n.5268A= n.5309A= | |
17 | g.43063895T>A | CA10589617 | BRCA1 | c.5128A>T (p.Lys1710Ter) c.5131A>T (p.Lys1711Ter) c.5005A>T (p.Lys1669Ter) c.5125A>T (p.Lys1709Ter) c.5053A>T (p.Lys1685Ter) c.1819A>T (p.Lys607Ter) c.1681A>T (p.Lys561Ter) c.4243A>T (p.Lys1415Ter) c.5008A>T (p.Lys1670Ter) c.5197A>T (p.Lys1733Ter) c.4990A>T (p.Lys1664Ter) c.1693A>T (p.Lys565Ter) c.5194A>T (p.Lys1732Ter) c.1518A>T c.1705A>T (p.Lys569Ter) c.*4914A>T (n.*4914A>T) c.1444A>T (p.Lys482Ter) c.61A>T (p.Lys21Ter) c.604A>T (p.Lys202Ter) c.-98-13705A>T (n.-98-13705A>T) n.5267A>T n.5308A>T | ClinVar dbSNP |
17 | g.43063895T>C | CA10591281 | BRCA1 | c.5128A>G (p.Lys1710Glu) c.5131A>G (p.Lys1711Glu) c.5005A>G (p.Lys1669Glu) c.5125A>G (p.Lys1709Glu) c.5053A>G (p.Lys1685Glu) c.1819A>G (p.Lys607Glu) c.1681A>G (p.Lys561Glu) c.4243A>G (p.Lys1415Glu) c.5008A>G (p.Lys1670Glu) c.5197A>G (p.Lys1733Glu) c.4990A>G (p.Lys1664Glu) c.1693A>G (p.Lys565Glu) c.5194A>G (p.Lys1732Glu) c.1518A>G c.1705A>G (p.Lys569Glu) c.*4914A>G (n.*4914A>G) c.1444A>G (p.Lys482Glu) c.61A>G (p.Lys21Glu) c.604A>G (p.Lys202Glu) c.-98-13705A>G (n.-98-13705A>G) n.5267A>G n.5308A>G | ClinVar dbSNP |
17 | g.43063895T>G | CA10591282 | BRCA1 | c.5128A>C (p.Lys1710Gln) c.5131A>C (p.Lys1711Gln) c.5005A>C (p.Lys1669Gln) c.5125A>C (p.Lys1709Gln) c.5053A>C (p.Lys1685Gln) c.1819A>C (p.Lys607Gln) c.1681A>C (p.Lys561Gln) c.4243A>C (p.Lys1415Gln) c.5008A>C (p.Lys1670Gln) c.5197A>C (p.Lys1733Gln) c.4990A>C (p.Lys1664Gln) c.1693A>C (p.Lys565Gln) c.5194A>C (p.Lys1732Gln) c.1518A>C c.1705A>C (p.Lys569Gln) c.*4914A>C (n.*4914A>C) c.1444A>C (p.Lys482Gln) c.61A>C (p.Lys21Gln) c.604A>C (p.Lys202Gln) c.-98-13705A>C (n.-98-13705A>C) n.5267A>C n.5308A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43063895T= | CA2260769513 | BRCA1 | c.5128A= (p.Lys1710=) c.5131A= (p.Lys1711=) c.5005A= (p.Lys1669=) c.5125A= (p.Lys1709=) c.5053A= (p.Lys1685=) c.1819A= (p.Lys607=) c.1681A= (p.Lys561=) c.4243A= (p.Lys1415=) c.5008A= (p.Lys1670=) c.5197A= (p.Lys1733=) c.4990A= (p.Lys1664=) c.1693A= (p.Lys565=) c.5194A= (p.Lys1732=) c.1518A= c.1705A= (p.Lys569=) c.*4914A= (n.*4914A=) c.1444A= (p.Lys482=) c.61A= (p.Lys21=) c.604A= (p.Lys202=) c.-98-13705A= (n.-98-13705A=) n.5267A= n.5308A= | |
17 | g.43063895_43063896insC | CA2580093950 | BRCA1 | c.5127_5128insG (p.Lys1710GlufsTer5) c.5130_5131insG (p.Lys1711GlufsTer5) c.5004_5005insG (p.Lys1669GlufsTer5) c.5124_5125insG (p.Lys1709GlufsTer5) c.5052_5053insG (p.Lys1685GlufsTer5) c.1818_1819insG (p.Lys607GlufsTer5) c.1680_1681insG (p.Lys561GlufsTer5) c.4242_4243insG (p.Lys1415GlufsTer5) c.5007_5008insG (p.Lys1670GlufsTer5) c.5196_5197insG (p.Lys1733GlufsTer5) c.4989_4990insG (p.Lys1664GlufsTer5) c.1692_1693insG (p.Lys565GlufsTer5) c.5193_5194insG (p.Lys1732GlufsTer5) c.1517_1518insG c.1704_1705insG (p.Lys569GlufsTer5) c.*4913_*4914insG (n.*4913_*4914insG) c.1443_1444insG (p.Lys482GlufsTer5) c.60_61insG (p.Lys21GlufsTer5) c.603_604insG (p.Lys202GlufsTer5) c.-98-13706_-98-13705insG (n.-98-13706_-98-13705insG) n.5266_5267insG n.5307_5308insG | ClinVar |
17 | g.43063896T>A | CA500146162 | BRCA1 | c.5127A>T (p.Gly1709=) c.5130A>T (p.Gly1710=) c.5004A>T (p.Gly1668=) c.5124A>T (p.Gly1708=) c.5052A>T (p.Gly1684=) c.1818A>T (p.Gly606=) c.1680A>T (p.Gly560=) c.4242A>T (p.Gly1414=) c.5007A>T (p.Gly1669=) c.5196A>T (p.Gly1732=) c.4989A>T (p.Gly1663=) c.1692A>T (p.Gly564=) c.5193A>T (p.Gly1731=) c.1517A>T c.1704A>T (p.Gly568=) c.*4913A>T (n.*4913A>T) c.1443A>T (p.Gly481=) c.60A>T (p.Gly20=) c.603A>T (p.Gly201=) c.-98-13706A>T (n.-98-13706A>T) n.5266A>T n.5307A>T | ClinVar dbSNP |
17 | g.43063896T>C | CA500146167 | BRCA1 | c.5127A>G (p.Gly1709=) c.5130A>G (p.Gly1710=) c.5004A>G (p.Gly1668=) c.5124A>G (p.Gly1708=) c.5052A>G (p.Gly1684=) c.1818A>G (p.Gly606=) c.1680A>G (p.Gly560=) c.4242A>G (p.Gly1414=) c.5007A>G (p.Gly1669=) c.5196A>G (p.Gly1732=) c.4989A>G (p.Gly1663=) c.1692A>G (p.Gly564=) c.5193A>G (p.Gly1731=) c.1517A>G c.1704A>G (p.Gly568=) c.*4913A>G (n.*4913A>G) c.1443A>G (p.Gly481=) c.60A>G (p.Gly20=) c.603A>G (p.Gly201=) c.-98-13706A>G (n.-98-13706A>G) n.5266A>G n.5307A>G | ClinVar dbSNP |
17 | g.43063896T>G | CA500146164 | BRCA1 | c.5127A>C (p.Gly1709=) c.5130A>C (p.Gly1710=) c.5004A>C (p.Gly1668=) c.5124A>C (p.Gly1708=) c.5052A>C (p.Gly1684=) c.1818A>C (p.Gly606=) c.1680A>C (p.Gly560=) c.4242A>C (p.Gly1414=) c.5007A>C (p.Gly1669=) c.5196A>C (p.Gly1732=) c.4989A>C (p.Gly1663=) c.1692A>C (p.Gly564=) c.5193A>C (p.Gly1731=) c.1517A>C c.1704A>C (p.Gly568=) c.*4913A>C (n.*4913A>C) c.1443A>C (p.Gly481=) c.60A>C (p.Gly20=) c.603A>C (p.Gly201=) c.-98-13706A>C (n.-98-13706A>C) n.5266A>C n.5307A>C | ClinVar dbSNP |
17 | g.43063896T= | CA2260769515 | BRCA1 | c.5127A= (p.Gly1709=) c.5130A= (p.Gly1710=) c.5004A= (p.Gly1668=) c.5124A= (p.Gly1708=) c.5052A= (p.Gly1684=) c.1818A= (p.Gly606=) c.1680A= (p.Gly560=) c.4242A= (p.Gly1414=) c.5007A= (p.Gly1669=) c.5196A= (p.Gly1732=) c.4989A= (p.Gly1663=) c.1692A= (p.Gly564=) c.5193A= (p.Gly1731=) c.1517A= c.1704A= (p.Gly568=) c.*4913A= (n.*4913A=) c.1443A= (p.Gly481=) c.60A= (p.Gly20=) c.603A= (p.Gly201=) c.-98-13706A= (n.-98-13706A=) n.5266A= n.5307A= | |
17 | g.43063896_43063897delinsTC | CA2260769514 | BRCA1 | c.5126_5127delinsGA (p.Gly1709=) c.5129_5130delinsGA (p.Gly1710=) c.5003_5004delinsGA (p.Gly1668=) c.5123_5124delinsGA (p.Gly1708=) c.5051_5052delinsGA (p.Gly1684=) c.1817_1818delinsGA (p.Gly606=) c.1679_1680delinsGA (p.Gly560=) c.4241_4242delinsGA (p.Gly1414=) c.5006_5007delinsGA (p.Gly1669=) c.5195_5196delinsGA (p.Gly1732=) c.4988_4989delinsGA (p.Gly1663=) c.1691_1692delinsGA (p.Gly564=) c.5192_5193delinsGA (p.Gly1731=) c.1516_1517delinsGA c.1703_1704delinsGA (p.Gly568=) c.*4912_*4913delinsGA (n.*4912_*4913delinsGA) c.1442_1443delinsGA (p.Gly481=) c.59_60delinsGA (p.Gly20=) c.602_603delinsGA (p.Gly201=) c.-98-13707_-98-13706delinsGA (n.-98-13707_-98-13706delinsGA) n.5265_5266delinsGA n.5306_5307delinsGA | |
17 | g.43063899_43063901del | CA2695226123 | BRCA1 | c.5125_5127del (p.Gly1709del) c.5128_5130del (p.Gly1710del) c.5002_5004del (p.Gly1668del) c.5122_5124del (p.Gly1708del) c.5050_5052del (p.Gly1684del) c.1816_1818del (p.Gly606del) c.1678_1680del (p.Gly560del) c.4240_4242del (p.Gly1414del) c.5005_5007del (p.Gly1669del) c.5194_5196del (p.Gly1732del) c.4987_4989del (p.Gly1663del) c.1690_1692del (p.Gly564del) c.5191_5193del (p.Gly1731del) c.1515_1517del c.1702_1704del (p.Gly568del) c.*4911_*4913del (n.*4911_*4913del) c.1441_1443del (p.Gly481del) c.58_60del (p.Gly20del) c.601_603del (p.Gly201del) c.-98-13708_-98-13706del (n.-98-13708_-98-13706del) n.5264_5266del n.5305_5307del | |
17 | g.43063897C>A | CA10591283 | BRCA1 | c.5126G>T (p.Gly1709Val) c.5129G>T (p.Gly1710Val) c.5003G>T (p.Gly1668Val) c.5123G>T (p.Gly1708Val) c.5051G>T (p.Gly1684Val) c.1817G>T (p.Gly606Val) c.1679G>T (p.Gly560Val) c.4241G>T (p.Gly1414Val) c.5006G>T (p.Gly1669Val) c.5195G>T (p.Gly1732Val) c.4988G>T (p.Gly1663Val) c.1691G>T (p.Gly564Val) c.5192G>T (p.Gly1731Val) c.1516G>T c.1703G>T (p.Gly568Val) c.*4912G>T (n.*4912G>T) c.1442G>T (p.Gly481Val) c.59G>T (p.Gly20Val) c.602G>T (p.Gly201Val) c.-98-13707G>T (n.-98-13707G>T) n.5265G>T n.5306G>T | ClinVar dbSNP |
17 | g.43063897C= | CA2260769516 | BRCA1 | c.5126G= (p.Gly1709=) c.5129G= (p.Gly1710=) c.5003G= (p.Gly1668=) c.5123G= (p.Gly1708=) c.5051G= (p.Gly1684=) c.1817G= (p.Gly606=) c.1679G= (p.Gly560=) c.4241G= (p.Gly1414=) c.5006G= (p.Gly1669=) c.5195G= (p.Gly1732=) c.4988G= (p.Gly1663=) c.1691G= (p.Gly564=) c.5192G= (p.Gly1731=) c.1516G= c.1703G= (p.Gly568=) c.*4912G= (n.*4912G=) c.1442G= (p.Gly481=) c.59G= (p.Gly20=) c.602G= (p.Gly201=) c.-98-13707G= (n.-98-13707G=) n.5265G= n.5306G= | |
17 | g.43063897C>G | CA10591284 | BRCA1 | c.5126G>C (p.Gly1709Ala) c.5129G>C (p.Gly1710Ala) c.5003G>C (p.Gly1668Ala) c.5123G>C (p.Gly1708Ala) c.5051G>C (p.Gly1684Ala) c.1817G>C (p.Gly606Ala) c.1679G>C (p.Gly560Ala) c.4241G>C (p.Gly1414Ala) c.5006G>C (p.Gly1669Ala) c.5195G>C (p.Gly1732Ala) c.4988G>C (p.Gly1663Ala) c.1691G>C (p.Gly564Ala) c.5192G>C (p.Gly1731Ala) c.1516G>C c.1703G>C (p.Gly568Ala) c.*4912G>C (n.*4912G>C) c.1442G>C (p.Gly481Ala) c.59G>C (p.Gly20Ala) c.602G>C (p.Gly201Ala) c.-98-13707G>C (n.-98-13707G>C) n.5265G>C n.5306G>C | ClinVar dbSNP |
17 | g.43063897C>T | CA003258 | BRCA1 | c.5126G>A (p.Gly1709Glu) c.5129G>A (p.Gly1710Glu) c.5003G>A (p.Gly1668Glu) c.5123G>A (p.Gly1708Glu) c.5051G>A (p.Gly1684Glu) c.1817G>A (p.Gly606Glu) c.1679G>A (p.Gly560Glu) c.4241G>A (p.Gly1414Glu) c.5006G>A (p.Gly1669Glu) c.5195G>A (p.Gly1732Glu) c.4988G>A (p.Gly1663Glu) c.1691G>A (p.Gly564Glu) c.5192G>A (p.Gly1731Glu) c.1516G>A c.1703G>A (p.Gly568Glu) c.*4912G>A (n.*4912G>A) c.1442G>A (p.Gly481Glu) c.59G>A (p.Gly20Glu) c.602G>A (p.Gly201Glu) c.-98-13707G>A (n.-98-13707G>A) n.5265G>A n.5306G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.43063898del | CA500146168 | BRCA1 | c.5126del (p.Gly1709GlufsTer4) c.5129del (p.Gly1710GlufsTer4) c.5003del (p.Gly1668GlufsTer4) c.5123del (p.Gly1708GlufsTer4) c.5051del (p.Gly1684GlufsTer4) c.1817del (p.Gly606GlufsTer4) c.1679del (p.Gly560GlufsTer4) c.4241del (p.Gly1414GlufsTer4) c.5006del (p.Gly1669GlufsTer4) c.5195del (p.Gly1732GlufsTer4) c.4988del (p.Gly1663GlufsTer4) c.1691del (p.Gly564GlufsTer4) c.5192del (p.Gly1731GlufsTer4) c.1516del c.1703del (p.Gly568GlufsTer4) c.*4912del (n.*4912del) c.1442del (p.Gly481GlufsTer4) c.59del (p.Gly20GlufsTer4) c.602del (p.Gly201GlufsTer4) c.-98-13707del (n.-98-13707del) n.5265del n.5306del | ClinVar dbSNP COSMIC |
17 | g.43063898C>A | CA003256 | BRCA1 | c.5125G>T (p.Gly1709Ter) c.5128G>T (p.Gly1710Ter) c.5002G>T (p.Gly1668Ter) c.5122G>T (p.Gly1708Ter) c.5050G>T (p.Gly1684Ter) c.1816G>T (p.Gly606Ter) c.1678G>T (p.Gly560Ter) c.4240G>T (p.Gly1414Ter) c.5005G>T (p.Gly1669Ter) c.5194G>T (p.Gly1732Ter) c.4987G>T (p.Gly1663Ter) c.1690G>T (p.Gly564Ter) c.5191G>T (p.Gly1731Ter) c.1515G>T c.1702G>T (p.Gly568Ter) c.*4911G>T (n.*4911G>T) c.1441G>T (p.Gly481Ter) c.58G>T (p.Gly20Ter) c.601G>T (p.Gly201Ter) c.-98-13708G>T (n.-98-13708G>T) n.5264G>T n.5305G>T | ClinVar dbSNP |
17 | g.43063898C= | CA2260769517 | BRCA1 | c.5125G= (p.Gly1709=) c.5128G= (p.Gly1710=) c.5002G= (p.Gly1668=) c.5122G= (p.Gly1708=) c.5050G= (p.Gly1684=) c.1816G= (p.Gly606=) c.1678G= (p.Gly560=) c.4240G= (p.Gly1414=) c.5005G= (p.Gly1669=) c.5194G= (p.Gly1732=) c.4987G= (p.Gly1663=) c.1690G= (p.Gly564=) c.5191G= (p.Gly1731=) c.1515G= c.1702G= (p.Gly568=) c.*4911G= (n.*4911G=) c.1441G= (p.Gly481=) c.58G= (p.Gly20=) c.601G= (p.Gly201=) c.-98-13708G= (n.-98-13708G=) n.5264G= n.5305G= | |
17 | g.43063898C>G | CA10591285 | BRCA1 | c.5125G>C (p.Gly1709Arg) c.5128G>C (p.Gly1710Arg) c.5002G>C (p.Gly1668Arg) c.5122G>C (p.Gly1708Arg) c.5050G>C (p.Gly1684Arg) c.1816G>C (p.Gly606Arg) c.1678G>C (p.Gly560Arg) c.4240G>C (p.Gly1414Arg) c.5005G>C (p.Gly1669Arg) c.5194G>C (p.Gly1732Arg) c.4987G>C (p.Gly1663Arg) c.1690G>C (p.Gly564Arg) c.5191G>C (p.Gly1731Arg) c.1515G>C c.1702G>C (p.Gly568Arg) c.*4911G>C (n.*4911G>C) c.1441G>C (p.Gly481Arg) c.58G>C (p.Gly20Arg) c.601G>C (p.Gly201Arg) c.-98-13708G>C (n.-98-13708G>C) n.5264G>C n.5305G>C | ClinVar dbSNP |
17 | g.43063898C>T | CA053953 | BRCA1 | c.5125G>A (p.Gly1709Arg) c.5128G>A (p.Gly1710Arg) c.5002G>A (p.Gly1668Arg) c.5122G>A (p.Gly1708Arg) c.5050G>A (p.Gly1684Arg) c.1816G>A (p.Gly606Arg) c.1678G>A (p.Gly560Arg) c.4240G>A (p.Gly1414Arg) c.5005G>A (p.Gly1669Arg) c.5194G>A (p.Gly1732Arg) c.4987G>A (p.Gly1663Arg) c.1690G>A (p.Gly564Arg) c.5191G>A (p.Gly1731Arg) c.1515G>A c.1702G>A (p.Gly568Arg) c.*4911G>A (n.*4911G>A) c.1441G>A (p.Gly481Arg) c.58G>A (p.Gly20Arg) c.601G>A (p.Gly201Arg) c.-98-13708G>A (n.-98-13708G>A) n.5264G>A n.5305G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063898_43063899delinsCT | CA2260769518 | BRCA1 | c.5124_5125delinsAG (p.Gly1708=) c.5127_5128delinsAG (p.Gly1709=) c.5001_5002delinsAG (p.Gly1667=) c.5121_5122delinsAG (p.Gly1707=) c.5049_5050delinsAG (p.Gly1683=) c.1815_1816delinsAG (p.Gly605=) c.1677_1678delinsAG (p.Gly559=) c.4239_4240delinsAG (p.Gly1413=) c.5004_5005delinsAG (p.Gly1668=) c.5193_5194delinsAG (p.Gly1731=) c.4986_4987delinsAG (p.Gly1662=) c.1689_1690delinsAG (p.Gly563=) c.5190_5191delinsAG (p.Gly1730=) c.1514_1515delinsAG c.1701_1702delinsAG (p.Gly567=) c.*4910_*4911delinsAG (n.*4910_*4911delinsAG) c.1440_1441delinsAG (p.Gly480=) c.57_58delinsAG (p.Gly19=) c.600_601delinsAG (p.Gly200=) c.-98-13709_-98-13708delinsAG (n.-98-13709_-98-13708delinsAG) n.5263_5264delinsAG n.5304_5305delinsAG | |
17 | g.43063899del | CA919844104 | BRCA1 | c.5124del (p.Gly1709GlufsTer4) c.5127del (p.Gly1710GlufsTer4) c.5001del (p.Gly1668GlufsTer4) c.5121del (p.Gly1708GlufsTer4) c.5049del (p.Gly1684GlufsTer4) c.1815del (p.Gly606GlufsTer4) c.1677del (p.Gly560GlufsTer4) c.4239del (p.Gly1414GlufsTer4) c.5004del (p.Gly1669GlufsTer4) c.5193del (p.Gly1732GlufsTer4) c.4986del (p.Gly1663GlufsTer4) c.1689del (p.Gly564GlufsTer4) c.5190del (p.Gly1731GlufsTer4) c.1514del c.1701del (p.Gly568GlufsTer4) c.*4910del (n.*4910del) c.1440del (p.Gly481GlufsTer4) c.57del (p.Gly20GlufsTer4) c.600del (p.Gly201GlufsTer4) c.-98-13709del (n.-98-13709del) n.5263del n.5304del | dbSNP |
17 | g.43063899T>A | CA500146172 | BRCA1 | c.5124A>T (p.Gly1708=) c.5127A>T (p.Gly1709=) c.5001A>T (p.Gly1667=) c.5121A>T (p.Gly1707=) c.5049A>T (p.Gly1683=) c.1815A>T (p.Gly605=) c.1677A>T (p.Gly559=) c.4239A>T (p.Gly1413=) c.5004A>T (p.Gly1668=) c.5193A>T (p.Gly1731=) c.4986A>T (p.Gly1662=) c.1689A>T (p.Gly563=) c.5190A>T (p.Gly1730=) c.1514A>T c.1701A>T (p.Gly567=) c.*4910A>T (n.*4910A>T) c.1440A>T (p.Gly480=) c.57A>T (p.Gly19=) c.600A>T (p.Gly200=) c.-98-13709A>T (n.-98-13709A>T) n.5263A>T n.5304A>T | ClinVar dbSNP |
17 | g.43063899T>C | CA500146173 | BRCA1 | c.5124A>G (p.Gly1708=) c.5127A>G (p.Gly1709=) c.5001A>G (p.Gly1667=) c.5121A>G (p.Gly1707=) c.5049A>G (p.Gly1683=) c.1815A>G (p.Gly605=) c.1677A>G (p.Gly559=) c.4239A>G (p.Gly1413=) c.5004A>G (p.Gly1668=) c.5193A>G (p.Gly1731=) c.4986A>G (p.Gly1662=) c.1689A>G (p.Gly563=) c.5190A>G (p.Gly1730=) c.1514A>G c.1701A>G (p.Gly567=) c.*4910A>G (n.*4910A>G) c.1440A>G (p.Gly480=) c.57A>G (p.Gly19=) c.600A>G (p.Gly200=) c.-98-13709A>G (n.-98-13709A>G) n.5263A>G n.5304A>G | ClinVar dbSNP |
17 | g.43063899T>G | CA500146174 | BRCA1 | c.5124A>C (p.Gly1708=) c.5127A>C (p.Gly1709=) c.5001A>C (p.Gly1667=) c.5121A>C (p.Gly1707=) c.5049A>C (p.Gly1683=) c.1815A>C (p.Gly605=) c.1677A>C (p.Gly559=) c.4239A>C (p.Gly1413=) c.5004A>C (p.Gly1668=) c.5193A>C (p.Gly1731=) c.4986A>C (p.Gly1662=) c.1689A>C (p.Gly563=) c.5190A>C (p.Gly1730=) c.1514A>C c.1701A>C (p.Gly567=) c.*4910A>C (n.*4910A>C) c.1440A>C (p.Gly480=) c.57A>C (p.Gly19=) c.600A>C (p.Gly200=) c.-98-13709A>C (n.-98-13709A>C) n.5263A>C n.5304A>C | ClinVar dbSNP |
17 | g.43063899T= | CA2260769519 | BRCA1 | c.5124A= (p.Gly1708=) c.5127A= (p.Gly1709=) c.5001A= (p.Gly1667=) c.5121A= (p.Gly1707=) c.5049A= (p.Gly1683=) c.1815A= (p.Gly605=) c.1677A= (p.Gly559=) c.4239A= (p.Gly1413=) c.5004A= (p.Gly1668=) c.5193A= (p.Gly1731=) c.4986A= (p.Gly1662=) c.1689A= (p.Gly563=) c.5190A= (p.Gly1730=) c.1514A= c.1701A= (p.Gly567=) c.*4910A= (n.*4910A=) c.1440A= (p.Gly480=) c.57A= (p.Gly19=) c.600A= (p.Gly200=) c.-98-13709A= (n.-98-13709A=) n.5263A= n.5304A= | |
17 | g.43063899_43063900delinsTC | CA2260769520 | BRCA1 | c.5123_5124delinsGA (p.Gly1708=) c.5126_5127delinsGA (p.Gly1709=) c.5000_5001delinsGA (p.Gly1667=) c.5120_5121delinsGA (p.Gly1707=) c.5048_5049delinsGA (p.Gly1683=) c.1814_1815delinsGA (p.Gly605=) c.1676_1677delinsGA (p.Gly559=) c.4238_4239delinsGA (p.Gly1413=) c.5003_5004delinsGA (p.Gly1668=) c.5192_5193delinsGA (p.Gly1731=) c.4985_4986delinsGA (p.Gly1662=) c.1688_1689delinsGA (p.Gly563=) c.5189_5190delinsGA (p.Gly1730=) c.1513_1514delinsGA c.1700_1701delinsGA (p.Gly567=) c.*4909_*4910delinsGA (n.*4909_*4910delinsGA) c.1439_1440delinsGA (p.Gly480=) c.56_57delinsGA (p.Gly19=) c.599_600delinsGA (p.Gly200=) c.-98-13710_-98-13709delinsGA (n.-98-13710_-98-13709delinsGA) n.5262_5263delinsGA n.5303_5304delinsGA | |
17 | g.43063900C>A | CA10591286 | BRCA1 | c.5123G>T (p.Gly1708Val) c.5126G>T (p.Gly1709Val) c.5000G>T (p.Gly1667Val) c.5120G>T (p.Gly1707Val) c.5048G>T (p.Gly1683Val) c.1814G>T (p.Gly605Val) c.1676G>T (p.Gly559Val) c.4238G>T (p.Gly1413Val) c.5003G>T (p.Gly1668Val) c.5192G>T (p.Gly1731Val) c.4985G>T (p.Gly1662Val) c.1688G>T (p.Gly563Val) c.5189G>T (p.Gly1730Val) c.1513G>T c.1700G>T (p.Gly567Val) c.*4909G>T (n.*4909G>T) c.1439G>T (p.Gly480Val) c.56G>T (p.Gly19Val) c.599G>T (p.Gly200Val) c.-98-13710G>T (n.-98-13710G>T) n.5262G>T n.5303G>T | ClinVar dbSNP |
17 | g.43063900C= | CA2260769521 | BRCA1 | c.5123G= (p.Gly1708=) c.5126G= (p.Gly1709=) c.5000G= (p.Gly1667=) c.5120G= (p.Gly1707=) c.5048G= (p.Gly1683=) c.1814G= (p.Gly605=) c.1676G= (p.Gly559=) c.4238G= (p.Gly1413=) c.5003G= (p.Gly1668=) c.5192G= (p.Gly1731=) c.4985G= (p.Gly1662=) c.1688G= (p.Gly563=) c.5189G= (p.Gly1730=) c.1513G= c.1700G= (p.Gly567=) c.*4909G= (n.*4909G=) c.1439G= (p.Gly480=) c.56G= (p.Gly19=) c.599G= (p.Gly200=) c.-98-13710G= (n.-98-13710G=) n.5262G= n.5303G= | |
17 | g.43063900C>G | CA10591287 | BRCA1 | c.5123G>C (p.Gly1708Ala) c.5126G>C (p.Gly1709Ala) c.5000G>C (p.Gly1667Ala) c.5120G>C (p.Gly1707Ala) c.5048G>C (p.Gly1683Ala) c.1814G>C (p.Gly605Ala) c.1676G>C (p.Gly559Ala) c.4238G>C (p.Gly1413Ala) c.5003G>C (p.Gly1668Ala) c.5192G>C (p.Gly1731Ala) c.4985G>C (p.Gly1662Ala) c.1688G>C (p.Gly563Ala) c.5189G>C (p.Gly1730Ala) c.1513G>C c.1700G>C (p.Gly567Ala) c.*4909G>C (n.*4909G>C) c.1439G>C (p.Gly480Ala) c.56G>C (p.Gly19Ala) c.599G>C (p.Gly200Ala) c.-98-13710G>C (n.-98-13710G>C) n.5262G>C n.5303G>C | ClinVar dbSNP |
17 | g.43063900C>T | CA003255 | BRCA1 | c.5123G>A (p.Gly1708Glu) c.5126G>A (p.Gly1709Glu) c.5000G>A (p.Gly1667Glu) c.5120G>A (p.Gly1707Glu) c.5048G>A (p.Gly1683Glu) c.1814G>A (p.Gly605Glu) c.1676G>A (p.Gly559Glu) c.4238G>A (p.Gly1413Glu) c.5003G>A (p.Gly1668Glu) c.5192G>A (p.Gly1731Glu) c.4985G>A (p.Gly1662Glu) c.1688G>A (p.Gly563Glu) c.5189G>A (p.Gly1730Glu) c.1513G>A c.1700G>A (p.Gly567Glu) c.*4909G>A (n.*4909G>A) c.1439G>A (p.Gly480Glu) c.56G>A (p.Gly19Glu) c.599G>A (p.Gly200Glu) c.-98-13710G>A (n.-98-13710G>A) n.5262G>A n.5303G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43063902del | CA003254 | BRCA1 | c.5123del (p.Gly1708GlufsTer5) c.5126del (p.Gly1709GlufsTer5) c.5000del (p.Gly1667GlufsTer5) c.5120del (p.Gly1707GlufsTer5) c.5048del (p.Gly1683GlufsTer5) c.1814del (p.Gly605GlufsTer5) c.1676del (p.Gly559GlufsTer5) c.4238del (p.Gly1413GlufsTer5) c.5003del (p.Gly1668GlufsTer5) c.5192del (p.Gly1731GlufsTer5) c.4985del (p.Gly1662GlufsTer5) c.1688del (p.Gly563GlufsTer5) c.5189del (p.Gly1730GlufsTer5) c.1513del c.1700del (p.Gly567GlufsTer5) c.*4909del (n.*4909del) c.1439del (p.Gly480GlufsTer5) c.56del (p.Gly19GlufsTer5) c.599del (p.Gly200GlufsTer5) c.-98-13710del (n.-98-13710del) n.5262del n.5303del | ClinVar dbSNP |
17 | g.43063901C>A | CA10591288 | BRCA1 | c.5122G>T (p.Gly1708Ter) c.5125G>T (p.Gly1709Ter) c.4999G>T (p.Gly1667Ter) c.5119G>T (p.Gly1707Ter) c.5047G>T (p.Gly1683Ter) c.1813G>T (p.Gly605Ter) c.1675G>T (p.Gly559Ter) c.4237G>T (p.Gly1413Ter) c.5002G>T (p.Gly1668Ter) c.5191G>T (p.Gly1731Ter) c.4984G>T (p.Gly1662Ter) c.1687G>T (p.Gly563Ter) c.5188G>T (p.Gly1730Ter) c.1512G>T c.1699G>T (p.Gly567Ter) c.*4908G>T (n.*4908G>T) c.1438G>T (p.Gly480Ter) c.55G>T (p.Gly19Ter) c.598G>T (p.Gly200Ter) c.-98-13711G>T (n.-98-13711G>T) n.5261G>T n.5302G>T | ClinVar dbSNP |
17 | g.43063901C= | CA2260769522 | BRCA1 | c.5122G= (p.Gly1708=) c.5125G= (p.Gly1709=) c.4999G= (p.Gly1667=) c.5119G= (p.Gly1707=) c.5047G= (p.Gly1683=) c.1813G= (p.Gly605=) c.1675G= (p.Gly559=) c.4237G= (p.Gly1413=) c.5002G= (p.Gly1668=) c.5191G= (p.Gly1731=) c.4984G= (p.Gly1662=) c.1687G= (p.Gly563=) c.5188G= (p.Gly1730=) c.1512G= c.1699G= (p.Gly567=) c.*4908G= (n.*4908G=) c.1438G= (p.Gly480=) c.55G= (p.Gly19=) c.598G= (p.Gly200=) c.-98-13711G= (n.-98-13711G=) n.5261G= n.5302G= | |
17 | g.43063901C>G | CA10591289 | BRCA1 | c.5122G>C (p.Gly1708Arg) c.5125G>C (p.Gly1709Arg) c.4999G>C (p.Gly1667Arg) c.5119G>C (p.Gly1707Arg) c.5047G>C (p.Gly1683Arg) c.1813G>C (p.Gly605Arg) c.1675G>C (p.Gly559Arg) c.4237G>C (p.Gly1413Arg) c.5002G>C (p.Gly1668Arg) c.5191G>C (p.Gly1731Arg) c.4984G>C (p.Gly1662Arg) c.1687G>C (p.Gly563Arg) c.5188G>C (p.Gly1730Arg) c.1512G>C c.1699G>C (p.Gly567Arg) c.*4908G>C (n.*4908G>C) c.1438G>C (p.Gly480Arg) c.55G>C (p.Gly19Arg) c.598G>C (p.Gly200Arg) c.-98-13711G>C (n.-98-13711G>C) n.5261G>C n.5302G>C | ClinVar dbSNP |
17 | g.43063901C>T | CA10586677 | BRCA1 | c.5122G>A (p.Gly1708Arg) c.5125G>A (p.Gly1709Arg) c.4999G>A (p.Gly1667Arg) c.5119G>A (p.Gly1707Arg) c.5047G>A (p.Gly1683Arg) c.1813G>A (p.Gly605Arg) c.1675G>A (p.Gly559Arg) c.4237G>A (p.Gly1413Arg) c.5002G>A (p.Gly1668Arg) c.5191G>A (p.Gly1731Arg) c.4984G>A (p.Gly1662Arg) c.1687G>A (p.Gly563Arg) c.5188G>A (p.Gly1730Arg) c.1512G>A c.1699G>A (p.Gly567Arg) c.*4908G>A (n.*4908G>A) c.1438G>A (p.Gly480Arg) c.55G>A (p.Gly19Arg) c.598G>A (p.Gly200Arg) c.-98-13711G>A (n.-98-13711G>A) n.5261G>A n.5302G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063902C>A | CA500146177 | BRCA1 | c.5121G>T (p.Ala1707=) c.5124G>T (p.Ala1708=) c.4998G>T (p.Ala1666=) c.5118G>T (p.Ala1706=) c.5046G>T (p.Ala1682=) c.1812G>T (p.Ala604=) c.1674G>T (p.Ala558=) c.4236G>T (p.Ala1412=) c.5001G>T (p.Ala1667=) c.5190G>T (p.Ala1730=) c.4983G>T (p.Ala1661=) c.1686G>T (p.Ala562=) c.5187G>T (p.Ala1729=) c.1511G>T c.1698G>T (p.Ala566=) c.*4907G>T (n.*4907G>T) c.1437G>T (p.Ala479=) c.54G>T (p.Ala18=) c.597G>T (p.Ala199=) c.-98-13712G>T (n.-98-13712G>T) n.5260G>T n.5301G>T | ClinVar dbSNP |
17 | g.43063902C= | CA2260769523 | BRCA1 | c.5121G= (p.Ala1707=) c.5124G= (p.Ala1708=) c.4998G= (p.Ala1666=) c.5118G= (p.Ala1706=) c.5046G= (p.Ala1682=) c.1812G= (p.Ala604=) c.1674G= (p.Ala558=) c.4236G= (p.Ala1412=) c.5001G= (p.Ala1667=) c.5190G= (p.Ala1730=) c.4983G= (p.Ala1661=) c.1686G= (p.Ala562=) c.5187G= (p.Ala1729=) c.1511G= c.1698G= (p.Ala566=) c.*4907G= (n.*4907G=) c.1437G= (p.Ala479=) c.54G= (p.Ala18=) c.597G= (p.Ala199=) c.-98-13712G= (n.-98-13712G=) n.5260G= n.5301G= | |
17 | g.43063902C>G | CA500146178 | BRCA1 | c.5121G>C (p.Ala1707=) c.5124G>C (p.Ala1708=) c.4998G>C (p.Ala1666=) c.5118G>C (p.Ala1706=) c.5046G>C (p.Ala1682=) c.1812G>C (p.Ala604=) c.1674G>C (p.Ala558=) c.4236G>C (p.Ala1412=) c.5001G>C (p.Ala1667=) c.5190G>C (p.Ala1730=) c.4983G>C (p.Ala1661=) c.1686G>C (p.Ala562=) c.5187G>C (p.Ala1729=) c.1511G>C c.1698G>C (p.Ala566=) c.*4907G>C (n.*4907G>C) c.1437G>C (p.Ala479=) c.54G>C (p.Ala18=) c.597G>C (p.Ala199=) c.-98-13712G>C (n.-98-13712G>C) n.5260G>C n.5301G>C | ClinVar dbSNP |
17 | g.43063902C>T | CA16607606 | BRCA1 | c.5121G>A (p.Ala1707=) c.5124G>A (p.Ala1708=) c.4998G>A (p.Ala1666=) c.5118G>A (p.Ala1706=) c.5046G>A (p.Ala1682=) c.1812G>A (p.Ala604=) c.1674G>A (p.Ala558=) c.4236G>A (p.Ala1412=) c.5001G>A (p.Ala1667=) c.5190G>A (p.Ala1730=) c.4983G>A (p.Ala1661=) c.1686G>A (p.Ala562=) c.5187G>A (p.Ala1729=) c.1511G>A c.1698G>A (p.Ala566=) c.*4907G>A (n.*4907G>A) c.1437G>A (p.Ala479=) c.54G>A (p.Ala18=) c.597G>A (p.Ala199=) c.-98-13712G>A (n.-98-13712G>A) n.5260G>A n.5301G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063902_43063903delinsCG | CA2260769524 | BRCA1 | c.5120_5121delinsCG (p.Ala1707=) c.5123_5124delinsCG (p.Ala1708=) c.4997_4998delinsCG (p.Ala1666=) c.5117_5118delinsCG (p.Ala1706=) c.5045_5046delinsCG (p.Ala1682=) c.1811_1812delinsCG (p.Ala604=) c.1673_1674delinsCG (p.Ala558=) c.4235_4236delinsCG (p.Ala1412=) c.5000_5001delinsCG (p.Ala1667=) c.5189_5190delinsCG (p.Ala1730=) c.4982_4983delinsCG (p.Ala1661=) c.1685_1686delinsCG (p.Ala562=) c.5186_5187delinsCG (p.Ala1729=) c.1510_1511delinsCG c.1697_1698delinsCG (p.Ala566=) c.*4906_*4907delinsCG (n.*4906_*4907delinsCG) c.1436_1437delinsCG (p.Ala479=) c.53_54delinsCG (p.Ala18=) c.596_597delinsCG (p.Ala199=) c.-98-13713_-98-13712delinsCG (n.-98-13713_-98-13712delinsCG) n.5259_5260delinsCG n.5300_5301delinsCG | |
17 | g.43063903del | CA10586604 | BRCA1 | c.5120del (p.Ala1707GlyfsTer6) c.5123del (p.Ala1708GlyfsTer6) c.4997del (p.Ala1666GlyfsTer6) c.5117del (p.Ala1706GlyfsTer6) c.5045del (p.Ala1682GlyfsTer6) c.1811del (p.Ala604GlyfsTer6) c.1673del (p.Ala558GlyfsTer6) c.4235del (p.Ala1412GlyfsTer6) c.5000del (p.Ala1667GlyfsTer6) c.5189del (p.Ala1730GlyfsTer6) c.4982del (p.Ala1661GlyfsTer6) c.1685del (p.Ala562GlyfsTer6) c.5186del (p.Ala1729GlyfsTer6) c.1510del c.1697del (p.Ala566GlyfsTer6) c.*4906del (n.*4906del) c.1436del (p.Ala479GlyfsTer6) c.53del (p.Ala18GlyfsTer6) c.596del (p.Ala199GlyfsTer6) c.-98-13713del (n.-98-13713del) n.5259del n.5300del | ClinVar dbSNP |
17 | g.43063903G>A | CA003253 | BRCA1 | c.5120C>T (p.Ala1707Val) c.5123C>T (p.Ala1708Val) c.4997C>T (p.Ala1666Val) c.5117C>T (p.Ala1706Val) c.5045C>T (p.Ala1682Val) c.1811C>T (p.Ala604Val) c.1673C>T (p.Ala558Val) c.4235C>T (p.Ala1412Val) c.5000C>T (p.Ala1667Val) c.5189C>T (p.Ala1730Val) c.4982C>T (p.Ala1661Val) c.1685C>T (p.Ala562Val) c.5186C>T (p.Ala1729Val) c.1510C>T c.1697C>T (p.Ala566Val) c.*4906C>T (n.*4906C>T) c.1436C>T (p.Ala479Val) c.53C>T (p.Ala18Val) c.596C>T (p.Ala199Val) c.-98-13713C>T (n.-98-13713C>T) n.5259C>T n.5300C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063903G>C | CA10591290 | BRCA1 | c.5120C>G (p.Ala1707Gly) c.5123C>G (p.Ala1708Gly) c.4997C>G (p.Ala1666Gly) c.5117C>G (p.Ala1706Gly) c.5045C>G (p.Ala1682Gly) c.1811C>G (p.Ala604Gly) c.1673C>G (p.Ala558Gly) c.4235C>G (p.Ala1412Gly) c.5000C>G (p.Ala1667Gly) c.5189C>G (p.Ala1730Gly) c.4982C>G (p.Ala1661Gly) c.1685C>G (p.Ala562Gly) c.5186C>G (p.Ala1729Gly) c.1510C>G c.1697C>G (p.Ala566Gly) c.*4906C>G (n.*4906C>G) c.1436C>G (p.Ala479Gly) c.53C>G (p.Ala18Gly) c.596C>G (p.Ala199Gly) c.-98-13713C>G (n.-98-13713C>G) n.5259C>G n.5300C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063903G= | CA2260769525 | BRCA1 | c.5120C= (p.Ala1707=) c.5123C= (p.Ala1708=) c.4997C= (p.Ala1666=) c.5117C= (p.Ala1706=) c.5045C= (p.Ala1682=) c.1811C= (p.Ala604=) c.1673C= (p.Ala558=) c.4235C= (p.Ala1412=) c.5000C= (p.Ala1667=) c.5189C= (p.Ala1730=) c.4982C= (p.Ala1661=) c.1685C= (p.Ala562=) c.5186C= (p.Ala1729=) c.1510C= c.1697C= (p.Ala566=) c.*4906C= (n.*4906C=) c.1436C= (p.Ala479=) c.53C= (p.Ala18=) c.596C= (p.Ala199=) c.-98-13713C= (n.-98-13713C=) n.5259C= n.5300C= | |
17 | g.43063903G>T | CA003252 | BRCA1 | c.5120C>A (p.Ala1707Glu) c.5123C>A (p.Ala1708Glu) c.4997C>A (p.Ala1666Glu) c.5117C>A (p.Ala1706Glu) c.5045C>A (p.Ala1682Glu) c.1811C>A (p.Ala604Glu) c.1673C>A (p.Ala558Glu) c.4235C>A (p.Ala1412Glu) c.5000C>A (p.Ala1667Glu) c.5189C>A (p.Ala1730Glu) c.4982C>A (p.Ala1661Glu) c.1685C>A (p.Ala562Glu) c.5186C>A (p.Ala1729Glu) c.1510C>A c.1697C>A (p.Ala566Glu) c.*4906C>A (n.*4906C>A) c.1436C>A (p.Ala479Glu) c.53C>A (p.Ala18Glu) c.596C>A (p.Ala199Glu) c.-98-13713C>A (n.-98-13713C>A) n.5259C>A n.5300C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.43063904C>A | CA10591291 | BRCA1 | c.5119G>T (p.Ala1707Ser) c.5122G>T (p.Ala1708Ser) c.4996G>T (p.Ala1666Ser) c.5116G>T (p.Ala1706Ser) c.5044G>T (p.Ala1682Ser) c.1810G>T (p.Ala604Ser) c.1672G>T (p.Ala558Ser) c.4234G>T (p.Ala1412Ser) c.4999G>T (p.Ala1667Ser) c.5188G>T (p.Ala1730Ser) c.4981G>T (p.Ala1661Ser) c.1684G>T (p.Ala562Ser) c.5185G>T (p.Ala1729Ser) c.1509G>T c.1696G>T (p.Ala566Ser) c.*4905G>T (n.*4905G>T) c.1435G>T (p.Ala479Ser) c.52G>T (p.Ala18Ser) c.595G>T (p.Ala199Ser) c.-98-13714G>T (n.-98-13714G>T) n.5258G>T n.5299G>T | ClinVar dbSNP |
17 | g.43063904C= | CA2260769527 | BRCA1 | c.5119G= (p.Ala1707=) c.5122G= (p.Ala1708=) c.4996G= (p.Ala1666=) c.5116G= (p.Ala1706=) c.5044G= (p.Ala1682=) c.1810G= (p.Ala604=) c.1672G= (p.Ala558=) c.4234G= (p.Ala1412=) c.4999G= (p.Ala1667=) c.5188G= (p.Ala1730=) c.4981G= (p.Ala1661=) c.1684G= (p.Ala562=) c.5185G= (p.Ala1729=) c.1509G= c.1696G= (p.Ala566=) c.*4905G= (n.*4905G=) c.1435G= (p.Ala479=) c.52G= (p.Ala18=) c.595G= (p.Ala199=) c.-98-13714G= (n.-98-13714G=) n.5258G= n.5299G= | |
17 | g.43063904C>G | CA10591292 | BRCA1 | c.5119G>C (p.Ala1707Pro) c.5122G>C (p.Ala1708Pro) c.4996G>C (p.Ala1666Pro) c.5116G>C (p.Ala1706Pro) c.5044G>C (p.Ala1682Pro) c.1810G>C (p.Ala604Pro) c.1672G>C (p.Ala558Pro) c.4234G>C (p.Ala1412Pro) c.4999G>C (p.Ala1667Pro) c.5188G>C (p.Ala1730Pro) c.4981G>C (p.Ala1661Pro) c.1684G>C (p.Ala562Pro) c.5185G>C (p.Ala1729Pro) c.1509G>C c.1696G>C (p.Ala566Pro) c.*4905G>C (n.*4905G>C) c.1435G>C (p.Ala479Pro) c.52G>C (p.Ala18Pro) c.595G>C (p.Ala199Pro) c.-98-13714G>C (n.-98-13714G>C) n.5258G>C n.5299G>C | ClinVar dbSNP |
17 | g.43063904C>T | CA003251 | BRCA1 | c.5119G>A (p.Ala1707Thr) c.5122G>A (p.Ala1708Thr) c.4996G>A (p.Ala1666Thr) c.5116G>A (p.Ala1706Thr) c.5044G>A (p.Ala1682Thr) c.1810G>A (p.Ala604Thr) c.1672G>A (p.Ala558Thr) c.4234G>A (p.Ala1412Thr) c.4999G>A (p.Ala1667Thr) c.5188G>A (p.Ala1730Thr) c.4981G>A (p.Ala1661Thr) c.1684G>A (p.Ala562Thr) c.5185G>A (p.Ala1729Thr) c.1509G>A c.1696G>A (p.Ala566Thr) c.*4905G>A (n.*4905G>A) c.1435G>A (p.Ala479Thr) c.52G>A (p.Ala18Thr) c.595G>A (p.Ala199Thr) c.-98-13714G>A (n.-98-13714G>A) n.5258G>A n.5299G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063904_43063912delinsCAATTCCTA | CA2260769526 | BRCA1 | c.5111_5119delinsTAGGAATTG (p.Leu1704=) c.5114_5122delinsTAGGAATTG (p.Leu1705=) c.4988_4996delinsTAGGAATTG (p.Leu1663=) c.5108_5116delinsTAGGAATTG (p.Leu1703=) c.5036_5044delinsTAGGAATTG (p.Leu1679=) c.1802_1810delinsTAGGAATTG (p.Leu601=) c.1664_1672delinsTAGGAATTG (p.Leu555=) c.4226_4234delinsTAGGAATTG (p.Leu1409=) c.4991_4999delinsTAGGAATTG (p.Leu1664=) c.5180_5188delinsTAGGAATTG (p.Leu1727=) c.4973_4981delinsTAGGAATTG (p.Leu1658=) c.1676_1684delinsTAGGAATTG (p.Leu559=) c.5177_5185delinsTAGGAATTG (p.Leu1726=) c.1501_1509delinsTAGGAATTG c.1688_1696delinsTAGGAATTG (p.Leu563=) c.*4897_*4905delinsTAGGAATTG (n.*4897_*4905delinsTAGGAATTG) c.1427_1435delinsTAGGAATTG (p.Leu476=) c.44_52delinsTAGGAATTG (p.Leu15=) c.587_595delinsTAGGAATTG (p.Leu196=) c.-98-13722_-98-13714delinsTAGGAATTG (n.-98-13722_-98-13714delinsTAGGAATTG) n.5250_5258delinsTAGGAATTG n.5291_5299delinsTAGGAATTG | |
17 | g.43063905A= | CA2260769528 | BRCA1 | c.5118T= (p.Ile1706=) c.5121T= (p.Ile1707=) c.4995T= (p.Ile1665=) c.5115T= (p.Ile1705=) c.5043T= (p.Ile1681=) c.1809T= (p.Ile603=) c.1671T= (p.Ile557=) c.4233T= (p.Ile1411=) c.4998T= (p.Ile1666=) c.5187T= (p.Ile1729=) c.4980T= (p.Ile1660=) c.1683T= (p.Ile561=) c.5184T= (p.Ile1728=) c.1508T= c.1695T= (p.Ile565=) c.*4904T= (n.*4904T=) c.1434T= (p.Ile478=) c.51T= (p.Ile17=) c.594T= (p.Ile198=) c.-98-13715T= (n.-98-13715T=) n.5257T= n.5298T= | |
17 | g.43063905A>C | CA10591293 | BRCA1 | c.5118T>G (p.Ile1706Met) c.5121T>G (p.Ile1707Met) c.4995T>G (p.Ile1665Met) c.5115T>G (p.Ile1705Met) c.5043T>G (p.Ile1681Met) c.1809T>G (p.Ile603Met) c.1671T>G (p.Ile557Met) c.4233T>G (p.Ile1411Met) c.4998T>G (p.Ile1666Met) c.5187T>G (p.Ile1729Met) c.4980T>G (p.Ile1660Met) c.1683T>G (p.Ile561Met) c.5184T>G (p.Ile1728Met) c.1508T>G c.1695T>G (p.Ile565Met) c.*4904T>G (n.*4904T>G) c.1434T>G (p.Ile478Met) c.51T>G (p.Ile17Met) c.594T>G (p.Ile198Met) c.-98-13715T>G (n.-98-13715T>G) n.5257T>G n.5298T>G | ClinVar dbSNP |
17 | g.43063905A>G | CA500146183 | BRCA1 | c.5118T>C (p.Ile1706=) c.5121T>C (p.Ile1707=) c.4995T>C (p.Ile1665=) c.5115T>C (p.Ile1705=) c.5043T>C (p.Ile1681=) c.1809T>C (p.Ile603=) c.1671T>C (p.Ile557=) c.4233T>C (p.Ile1411=) c.4998T>C (p.Ile1666=) c.5187T>C (p.Ile1729=) c.4980T>C (p.Ile1660=) c.1683T>C (p.Ile561=) c.5184T>C (p.Ile1728=) c.1508T>C c.1695T>C (p.Ile565=) c.*4904T>C (n.*4904T>C) c.1434T>C (p.Ile478=) c.51T>C (p.Ile17=) c.594T>C (p.Ile198=) c.-98-13715T>C (n.-98-13715T>C) n.5257T>C n.5298T>C | ClinVar dbSNP |
17 | g.43063905A>T | CA500146184 | BRCA1 | c.5118T>A (p.Ile1706=) c.5121T>A (p.Ile1707=) c.4995T>A (p.Ile1665=) c.5115T>A (p.Ile1705=) c.5043T>A (p.Ile1681=) c.1809T>A (p.Ile603=) c.1671T>A (p.Ile557=) c.4233T>A (p.Ile1411=) c.4998T>A (p.Ile1666=) c.5187T>A (p.Ile1729=) c.4980T>A (p.Ile1660=) c.1683T>A (p.Ile561=) c.5184T>A (p.Ile1728=) c.1508T>A c.1695T>A (p.Ile565=) c.*4904T>A (n.*4904T>A) c.1434T>A (p.Ile478=) c.51T>A (p.Ile17=) c.594T>A (p.Ile198=) c.-98-13715T>A (n.-98-13715T>A) n.5257T>A n.5298T>A | ClinVar dbSNP |
17 | g.43063905_43063912del | CA10589618 | BRCA1 | c.5111_5118del (p.Leu1704ArgfsTer8) c.5114_5121del (p.Leu1705ArgfsTer8) c.4988_4995del (p.Leu1663ArgfsTer8) c.5108_5115del (p.Leu1703ArgfsTer8) c.5036_5043del (p.Leu1679ArgfsTer8) c.1802_1809del (p.Leu601ArgfsTer8) c.1664_1671del (p.Leu555ArgfsTer8) c.4226_4233del (p.Leu1409ArgfsTer8) c.4991_4998del (p.Leu1664ArgfsTer8) c.5180_5187del (p.Leu1727ArgfsTer8) c.4973_4980del (p.Leu1658ArgfsTer8) c.1676_1683del (p.Leu559ArgfsTer8) c.5177_5184del (p.Leu1726ArgfsTer8) c.1501_1508del c.1688_1695del (p.Leu563ArgfsTer8) c.*4897_*4904del (n.*4897_*4904del) c.1427_1434del (p.Leu476ArgfsTer8) c.44_51del (p.Leu15ArgfsTer8) c.587_594del (p.Leu196ArgfsTer8) c.-98-13722_-98-13715del (n.-98-13722_-98-13715del) n.5250_5257del n.5291_5298del | ClinVar dbSNP |
17 | g.43063905_43063913delinsT | CA2580093951 | BRCA1 | c.5110_5118delinsA (p.Leu1704SerfsTer8) c.5113_5121delinsA (p.Leu1705SerfsTer8) c.4987_4995delinsA (p.Leu1663SerfsTer8) c.5107_5115delinsA (p.Leu1703SerfsTer8) c.5035_5043delinsA (p.Leu1679SerfsTer8) c.1801_1809delinsA (p.Leu601SerfsTer8) c.1663_1671delinsA (p.Leu555SerfsTer8) c.4225_4233delinsA (p.Leu1409SerfsTer8) c.4990_4998delinsA (p.Leu1664SerfsTer8) c.5179_5187delinsA (p.Leu1727SerfsTer8) c.4972_4980delinsA (p.Leu1658SerfsTer8) c.1675_1683delinsA (p.Leu559SerfsTer8) c.5176_5184delinsA (p.Leu1726SerfsTer8) c.1500_1508delinsA c.1687_1695delinsA (p.Leu563SerfsTer8) c.*4896_*4904delinsA (n.*4896_*4904delinsA) c.1426_1434delinsA (p.Leu476SerfsTer8) c.43_51delinsA (p.Leu15SerfsTer8) c.586_594delinsA (p.Leu196SerfsTer8) c.-98-13723_-98-13715delinsA (n.-98-13723_-98-13715delinsA) n.5249_5257delinsA n.5290_5298delinsA | ClinVar |
17 | g.43063906A= | CA2260769529 | BRCA1 | c.5117T= (p.Ile1706=) c.5120T= (p.Ile1707=) c.4994T= (p.Ile1665=) c.5114T= (p.Ile1705=) c.5042T= (p.Ile1681=) c.1808T= (p.Ile603=) c.1670T= (p.Ile557=) c.4232T= (p.Ile1411=) c.4997T= (p.Ile1666=) c.5186T= (p.Ile1729=) c.4979T= (p.Ile1660=) c.1682T= (p.Ile561=) c.5183T= (p.Ile1728=) c.1507T= c.1694T= (p.Ile565=) c.*4903T= (n.*4903T=) c.1433T= (p.Ile478=) c.50T= (p.Ile17=) c.593T= (p.Ile198=) c.-98-13716T= (n.-98-13716T=) n.5256T= n.5297T= | |
17 | g.43063906A>C | CA10591294 | BRCA1 | c.5117T>G (p.Ile1706Ser) c.5120T>G (p.Ile1707Ser) c.4994T>G (p.Ile1665Ser) c.5114T>G (p.Ile1705Ser) c.5042T>G (p.Ile1681Ser) c.1808T>G (p.Ile603Ser) c.1670T>G (p.Ile557Ser) c.4232T>G (p.Ile1411Ser) c.4997T>G (p.Ile1666Ser) c.5186T>G (p.Ile1729Ser) c.4979T>G (p.Ile1660Ser) c.1682T>G (p.Ile561Ser) c.5183T>G (p.Ile1728Ser) c.1507T>G c.1694T>G (p.Ile565Ser) c.*4903T>G (n.*4903T>G) c.1433T>G (p.Ile478Ser) c.50T>G (p.Ile17Ser) c.593T>G (p.Ile198Ser) c.-98-13716T>G (n.-98-13716T>G) n.5256T>G n.5297T>G | ClinVar dbSNP |
17 | g.43063906A>G | CA10591295 | BRCA1 | c.5117T>C (p.Ile1706Thr) c.5120T>C (p.Ile1707Thr) c.4994T>C (p.Ile1665Thr) c.5114T>C (p.Ile1705Thr) c.5042T>C (p.Ile1681Thr) c.1808T>C (p.Ile603Thr) c.1670T>C (p.Ile557Thr) c.4232T>C (p.Ile1411Thr) c.4997T>C (p.Ile1666Thr) c.5186T>C (p.Ile1729Thr) c.4979T>C (p.Ile1660Thr) c.1682T>C (p.Ile561Thr) c.5183T>C (p.Ile1728Thr) c.1507T>C c.1694T>C (p.Ile565Thr) c.*4903T>C (n.*4903T>C) c.1433T>C (p.Ile478Thr) c.50T>C (p.Ile17Thr) c.593T>C (p.Ile198Thr) c.-98-13716T>C (n.-98-13716T>C) n.5256T>C n.5297T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063906A>T | CA10591296 | BRCA1 | c.5117T>A (p.Ile1706Asn) c.5120T>A (p.Ile1707Asn) c.4994T>A (p.Ile1665Asn) c.5114T>A (p.Ile1705Asn) c.5042T>A (p.Ile1681Asn) c.1808T>A (p.Ile603Asn) c.1670T>A (p.Ile557Asn) c.4232T>A (p.Ile1411Asn) c.4997T>A (p.Ile1666Asn) c.5186T>A (p.Ile1729Asn) c.4979T>A (p.Ile1660Asn) c.1682T>A (p.Ile561Asn) c.5183T>A (p.Ile1728Asn) c.1507T>A c.1694T>A (p.Ile565Asn) c.*4903T>A (n.*4903T>A) c.1433T>A (p.Ile478Asn) c.50T>A (p.Ile17Asn) c.593T>A (p.Ile198Asn) c.-98-13716T>A (n.-98-13716T>A) n.5256T>A n.5297T>A | ClinVar dbSNP |
17 | g.43063907T>A | CA10591297 | BRCA1 | c.5116A>T (p.Ile1706Phe) c.5119A>T (p.Ile1707Phe) c.4993A>T (p.Ile1665Phe) c.5113A>T (p.Ile1705Phe) c.5041A>T (p.Ile1681Phe) c.1807A>T (p.Ile603Phe) c.1669A>T (p.Ile557Phe) c.4231A>T (p.Ile1411Phe) c.4996A>T (p.Ile1666Phe) c.5185A>T (p.Ile1729Phe) c.4978A>T (p.Ile1660Phe) c.1681A>T (p.Ile561Phe) c.5182A>T (p.Ile1728Phe) c.1506A>T c.1693A>T (p.Ile565Phe) c.*4902A>T (n.*4902A>T) c.1432A>T (p.Ile478Phe) c.49A>T (p.Ile17Phe) c.592A>T (p.Ile198Phe) c.-98-13717A>T (n.-98-13717A>T) n.5255A>T n.5296A>T | ClinVar dbSNP |
17 | g.43063907T>C | CA10591298 | BRCA1 | c.5116A>G (p.Ile1706Val) c.5119A>G (p.Ile1707Val) c.4993A>G (p.Ile1665Val) c.5113A>G (p.Ile1705Val) c.5041A>G (p.Ile1681Val) c.1807A>G (p.Ile603Val) c.1669A>G (p.Ile557Val) c.4231A>G (p.Ile1411Val) c.4996A>G (p.Ile1666Val) c.5185A>G (p.Ile1729Val) c.4978A>G (p.Ile1660Val) c.1681A>G (p.Ile561Val) c.5182A>G (p.Ile1728Val) c.1506A>G c.1693A>G (p.Ile565Val) c.*4902A>G (n.*4902A>G) c.1432A>G (p.Ile478Val) c.49A>G (p.Ile17Val) c.592A>G (p.Ile198Val) c.-98-13717A>G (n.-98-13717A>G) n.5255A>G n.5296A>G | ClinVar dbSNP |
17 | g.43063907T>G | CA10591299 | BRCA1 | c.5116A>C (p.Ile1706Leu) c.5119A>C (p.Ile1707Leu) c.4993A>C (p.Ile1665Leu) c.5113A>C (p.Ile1705Leu) c.5041A>C (p.Ile1681Leu) c.1807A>C (p.Ile603Leu) c.1669A>C (p.Ile557Leu) c.4231A>C (p.Ile1411Leu) c.4996A>C (p.Ile1666Leu) c.5185A>C (p.Ile1729Leu) c.4978A>C (p.Ile1660Leu) c.1681A>C (p.Ile561Leu) c.5182A>C (p.Ile1728Leu) c.1506A>C c.1693A>C (p.Ile565Leu) c.*4902A>C (n.*4902A>C) c.1432A>C (p.Ile478Leu) c.49A>C (p.Ile17Leu) c.592A>C (p.Ile198Leu) c.-98-13717A>C (n.-98-13717A>C) n.5255A>C n.5296A>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063907T= | CA2260769530 | BRCA1 | c.5116A= (p.Ile1706=) c.5119A= (p.Ile1707=) c.4993A= (p.Ile1665=) c.5113A= (p.Ile1705=) c.5041A= (p.Ile1681=) c.1807A= (p.Ile603=) c.1669A= (p.Ile557=) c.4231A= (p.Ile1411=) c.4996A= (p.Ile1666=) c.5185A= (p.Ile1729=) c.4978A= (p.Ile1660=) c.1681A= (p.Ile561=) c.5182A= (p.Ile1728=) c.1506A= c.1693A= (p.Ile565=) c.*4902A= (n.*4902A=) c.1432A= (p.Ile478=) c.49A= (p.Ile17=) c.592A= (p.Ile198=) c.-98-13717A= (n.-98-13717A=) n.5255A= n.5296A= | |
17 | g.43063908T>A | CA500146186 | BRCA1 | c.5115A>T (p.Gly1705=) c.5118A>T (p.Gly1706=) c.4992A>T (p.Gly1664=) c.5112A>T (p.Gly1704=) c.5040A>T (p.Gly1680=) c.1806A>T (p.Gly602=) c.1668A>T (p.Gly556=) c.4230A>T (p.Gly1410=) c.4995A>T (p.Gly1665=) c.5184A>T (p.Gly1728=) c.4977A>T (p.Gly1659=) c.1680A>T (p.Gly560=) c.5181A>T (p.Gly1727=) c.1505A>T c.1692A>T (p.Gly564=) c.*4901A>T (n.*4901A>T) c.1431A>T (p.Gly477=) c.48A>T (p.Gly16=) c.591A>T (p.Gly197=) c.-98-13718A>T (n.-98-13718A>T) n.5254A>T n.5295A>T | ClinVar dbSNP |
17 | g.43063908T>C | CA500146188 | BRCA1 | c.5115A>G (p.Gly1705=) c.5118A>G (p.Gly1706=) c.4992A>G (p.Gly1664=) c.5112A>G (p.Gly1704=) c.5040A>G (p.Gly1680=) c.1806A>G (p.Gly602=) c.1668A>G (p.Gly556=) c.4230A>G (p.Gly1410=) c.4995A>G (p.Gly1665=) c.5184A>G (p.Gly1728=) c.4977A>G (p.Gly1659=) c.1680A>G (p.Gly560=) c.5181A>G (p.Gly1727=) c.1505A>G c.1692A>G (p.Gly564=) c.*4901A>G (n.*4901A>G) c.1431A>G (p.Gly477=) c.48A>G (p.Gly16=) c.591A>G (p.Gly197=) c.-98-13718A>G (n.-98-13718A>G) n.5254A>G n.5295A>G | ClinVar dbSNP |
17 | g.43063908T>G | CA500146187 | BRCA1 | c.5115A>C (p.Gly1705=) c.5118A>C (p.Gly1706=) c.4992A>C (p.Gly1664=) c.5112A>C (p.Gly1704=) c.5040A>C (p.Gly1680=) c.1806A>C (p.Gly602=) c.1668A>C (p.Gly556=) c.4230A>C (p.Gly1410=) c.4995A>C (p.Gly1665=) c.5184A>C (p.Gly1728=) c.4977A>C (p.Gly1659=) c.1680A>C (p.Gly560=) c.5181A>C (p.Gly1727=) c.1505A>C c.1692A>C (p.Gly564=) c.*4901A>C (n.*4901A>C) c.1431A>C (p.Gly477=) c.48A>C (p.Gly16=) c.591A>C (p.Gly197=) c.-98-13718A>C (n.-98-13718A>C) n.5254A>C n.5295A>C | ClinVar dbSNP |
17 | g.43063908T= | CA2260769531 | BRCA1 | c.5115A= (p.Gly1705=) c.5118A= (p.Gly1706=) c.4992A= (p.Gly1664=) c.5112A= (p.Gly1704=) c.5040A= (p.Gly1680=) c.1806A= (p.Gly602=) c.1668A= (p.Gly556=) c.4230A= (p.Gly1410=) c.4995A= (p.Gly1665=) c.5184A= (p.Gly1728=) c.4977A= (p.Gly1659=) c.1680A= (p.Gly560=) c.5181A= (p.Gly1727=) c.1505A= c.1692A= (p.Gly564=) c.*4901A= (n.*4901A=) c.1431A= (p.Gly477=) c.48A= (p.Gly16=) c.591A= (p.Gly197=) c.-98-13718A= (n.-98-13718A=) n.5254A= n.5295A= | |
17 | g.43063909C>A | CA10591300 | BRCA1 | c.5114G>T (p.Gly1705Val) c.5117G>T (p.Gly1706Val) c.4991G>T (p.Gly1664Val) c.5111G>T (p.Gly1704Val) c.5039G>T (p.Gly1680Val) c.1805G>T (p.Gly602Val) c.1667G>T (p.Gly556Val) c.4229G>T (p.Gly1410Val) c.4994G>T (p.Gly1665Val) c.5183G>T (p.Gly1728Val) c.4976G>T (p.Gly1659Val) c.1679G>T (p.Gly560Val) c.5180G>T (p.Gly1727Val) c.1504G>T c.1691G>T (p.Gly564Val) c.*4900G>T (n.*4900G>T) c.1430G>T (p.Gly477Val) c.47G>T (p.Gly16Val) c.590G>T (p.Gly197Val) c.-98-13719G>T (n.-98-13719G>T) n.5253G>T n.5294G>T | ClinVar dbSNP |
17 | g.43063909C= | CA2260769532 | BRCA1 | c.5114G= (p.Gly1705=) c.5117G= (p.Gly1706=) c.4991G= (p.Gly1664=) c.5111G= (p.Gly1704=) c.5039G= (p.Gly1680=) c.1805G= (p.Gly602=) c.1667G= (p.Gly556=) c.4229G= (p.Gly1410=) c.4994G= (p.Gly1665=) c.5183G= (p.Gly1728=) c.4976G= (p.Gly1659=) c.1679G= (p.Gly560=) c.5180G= (p.Gly1727=) c.1504G= c.1691G= (p.Gly564=) c.*4900G= (n.*4900G=) c.1430G= (p.Gly477=) c.47G= (p.Gly16=) c.590G= (p.Gly197=) c.-98-13719G= (n.-98-13719G=) n.5253G= n.5294G= | |
17 | g.43063909C>G | CA003250 | BRCA1 | c.5114G>C (p.Gly1705Ala) c.5117G>C (p.Gly1706Ala) c.4991G>C (p.Gly1664Ala) c.5111G>C (p.Gly1704Ala) c.5039G>C (p.Gly1680Ala) c.1805G>C (p.Gly602Ala) c.1667G>C (p.Gly556Ala) c.4229G>C (p.Gly1410Ala) c.4994G>C (p.Gly1665Ala) c.5183G>C (p.Gly1728Ala) c.4976G>C (p.Gly1659Ala) c.1679G>C (p.Gly560Ala) c.5180G>C (p.Gly1727Ala) c.1504G>C c.1691G>C (p.Gly564Ala) c.*4900G>C (n.*4900G>C) c.1430G>C (p.Gly477Ala) c.47G>C (p.Gly16Ala) c.590G>C (p.Gly197Ala) c.-98-13719G>C (n.-98-13719G>C) n.5253G>C n.5294G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063909C>T | CA003249 | BRCA1 | c.5114G>A (p.Gly1705Glu) c.5117G>A (p.Gly1706Glu) c.4991G>A (p.Gly1664Glu) c.5111G>A (p.Gly1704Glu) c.5039G>A (p.Gly1680Glu) c.1805G>A (p.Gly602Glu) c.1667G>A (p.Gly556Glu) c.4229G>A (p.Gly1410Glu) c.4994G>A (p.Gly1665Glu) c.5183G>A (p.Gly1728Glu) c.4976G>A (p.Gly1659Glu) c.1679G>A (p.Gly560Glu) c.5180G>A (p.Gly1727Glu) c.1504G>A c.1691G>A (p.Gly564Glu) c.*4900G>A (n.*4900G>A) c.1430G>A (p.Gly477Glu) c.47G>A (p.Gly16Glu) c.590G>A (p.Gly197Glu) c.-98-13719G>A (n.-98-13719G>A) n.5253G>A n.5294G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063910del | CA2580093952 | BRCA1 | c.5114del (p.Gly1705GlufsTer8) c.5117del (p.Gly1706GlufsTer8) c.4991del (p.Gly1664GlufsTer8) c.5111del (p.Gly1704GlufsTer8) c.5039del (p.Gly1680GlufsTer8) c.1805del (p.Gly602GlufsTer8) c.1667del (p.Gly556GlufsTer8) c.4229del (p.Gly1410GlufsTer8) c.4994del (p.Gly1665GlufsTer8) c.5183del (p.Gly1728GlufsTer8) c.4976del (p.Gly1659GlufsTer8) c.1679del (p.Gly560GlufsTer8) c.5180del (p.Gly1727GlufsTer8) c.1504del c.1691del (p.Gly564GlufsTer8) c.*4900del (n.*4900del) c.1430del (p.Gly477GlufsTer8) c.47del (p.Gly16GlufsTer8) c.590del (p.Gly197GlufsTer8) c.-98-13719del (n.-98-13719del) n.5253del n.5294del | ClinVar |
17 | g.43063910C>A | CA10591301 | BRCA1 | c.5113G>T (p.Gly1705Ter) c.5116G>T (p.Gly1706Ter) c.4990G>T (p.Gly1664Ter) c.5110G>T (p.Gly1704Ter) c.5038G>T (p.Gly1680Ter) c.1804G>T (p.Gly602Ter) c.1666G>T (p.Gly556Ter) c.4228G>T (p.Gly1410Ter) c.4993G>T (p.Gly1665Ter) c.5182G>T (p.Gly1728Ter) c.4975G>T (p.Gly1659Ter) c.1678G>T (p.Gly560Ter) c.5179G>T (p.Gly1727Ter) c.1503G>T c.1690G>T (p.Gly564Ter) c.*4899G>T (n.*4899G>T) c.1429G>T (p.Gly477Ter) c.46G>T (p.Gly16Ter) c.589G>T (p.Gly197Ter) c.-98-13720G>T (n.-98-13720G>T) n.5252G>T n.5293G>T | ClinVar dbSNP |
17 | g.43063910C= | CA2260769533 | BRCA1 | c.5113G= (p.Gly1705=) c.5116G= (p.Gly1706=) c.4990G= (p.Gly1664=) c.5110G= (p.Gly1704=) c.5038G= (p.Gly1680=) c.1804G= (p.Gly602=) c.1666G= (p.Gly556=) c.4228G= (p.Gly1410=) c.4993G= (p.Gly1665=) c.5182G= (p.Gly1728=) c.4975G= (p.Gly1659=) c.1678G= (p.Gly560=) c.5179G= (p.Gly1727=) c.1503G= c.1690G= (p.Gly564=) c.*4899G= (n.*4899G=) c.1429G= (p.Gly477=) c.46G= (p.Gly16=) c.589G= (p.Gly197=) c.-98-13720G= (n.-98-13720G=) n.5252G= n.5293G= | |
17 | g.43063910C>G | CA501117 | BRCA1 | c.5113G>C (p.Gly1705Arg) c.5116G>C (p.Gly1706Arg) c.4990G>C (p.Gly1664Arg) c.5110G>C (p.Gly1704Arg) c.5038G>C (p.Gly1680Arg) c.1804G>C (p.Gly602Arg) c.1666G>C (p.Gly556Arg) c.4228G>C (p.Gly1410Arg) c.4993G>C (p.Gly1665Arg) c.5182G>C (p.Gly1728Arg) c.4975G>C (p.Gly1659Arg) c.1678G>C (p.Gly560Arg) c.5179G>C (p.Gly1727Arg) c.1503G>C c.1690G>C (p.Gly564Arg) c.*4899G>C (n.*4899G>C) c.1429G>C (p.Gly477Arg) c.46G>C (p.Gly16Arg) c.589G>C (p.Gly197Arg) c.-98-13720G>C (n.-98-13720G>C) n.5252G>C n.5293G>C | ClinVar dbSNP |
17 | g.43063910C>T | CA10590060 | BRCA1 | c.5113G>A (p.Gly1705Arg) c.5116G>A (p.Gly1706Arg) c.4990G>A (p.Gly1664Arg) c.5110G>A (p.Gly1704Arg) c.5038G>A (p.Gly1680Arg) c.1804G>A (p.Gly602Arg) c.1666G>A (p.Gly556Arg) c.4228G>A (p.Gly1410Arg) c.4993G>A (p.Gly1665Arg) c.5182G>A (p.Gly1728Arg) c.4975G>A (p.Gly1659Arg) c.1678G>A (p.Gly560Arg) c.5179G>A (p.Gly1727Arg) c.1503G>A c.1690G>A (p.Gly564Arg) c.*4899G>A (n.*4899G>A) c.1429G>A (p.Gly477Arg) c.46G>A (p.Gly16Arg) c.589G>A (p.Gly197Arg) c.-98-13720G>A (n.-98-13720G>A) n.5252G>A n.5293G>A | ClinVar dbSNP |
17 | g.43063911T>A | CA500146194 | BRCA1 | c.5112A>T (p.Leu1704=) c.5115A>T (p.Leu1705=) c.4989A>T (p.Leu1663=) c.5109A>T (p.Leu1703=) c.5037A>T (p.Leu1679=) c.1803A>T (p.Leu601=) c.1665A>T (p.Leu555=) c.4227A>T (p.Leu1409=) c.4992A>T (p.Leu1664=) c.5181A>T (p.Leu1727=) c.4974A>T (p.Leu1658=) c.1677A>T (p.Leu559=) c.5178A>T (p.Leu1726=) c.1502A>T c.1689A>T (p.Leu563=) c.*4898A>T (n.*4898A>T) c.1428A>T (p.Leu476=) c.45A>T (p.Leu15=) c.588A>T (p.Leu196=) c.-98-13721A>T (n.-98-13721A>T) n.5251A>T n.5292A>T | ClinVar dbSNP |
17 | g.43063911T>C | CA500146193 | BRCA1 | c.5112A>G (p.Leu1704=) c.5115A>G (p.Leu1705=) c.4989A>G (p.Leu1663=) c.5109A>G (p.Leu1703=) c.5037A>G (p.Leu1679=) c.1803A>G (p.Leu601=) c.1665A>G (p.Leu555=) c.4227A>G (p.Leu1409=) c.4992A>G (p.Leu1664=) c.5181A>G (p.Leu1727=) c.4974A>G (p.Leu1658=) c.1677A>G (p.Leu559=) c.5178A>G (p.Leu1726=) c.1502A>G c.1689A>G (p.Leu563=) c.*4898A>G (n.*4898A>G) c.1428A>G (p.Leu476=) c.45A>G (p.Leu15=) c.588A>G (p.Leu196=) c.-98-13721A>G (n.-98-13721A>G) n.5251A>G n.5292A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.43063911T>G | CA053919 | BRCA1 | c.5112A>C (p.Leu1704=) c.5115A>C (p.Leu1705=) c.4989A>C (p.Leu1663=) c.5109A>C (p.Leu1703=) c.5037A>C (p.Leu1679=) c.1803A>C (p.Leu601=) c.1665A>C (p.Leu555=) c.4227A>C (p.Leu1409=) c.4992A>C (p.Leu1664=) c.5181A>C (p.Leu1727=) c.4974A>C (p.Leu1658=) c.1677A>C (p.Leu559=) c.5178A>C (p.Leu1726=) c.1502A>C c.1689A>C (p.Leu563=) c.*4898A>C (n.*4898A>C) c.1428A>C (p.Leu476=) c.45A>C (p.Leu15=) c.588A>C (p.Leu196=) c.-98-13721A>C (n.-98-13721A>C) n.5251A>C n.5292A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063911T= | CA2260769534 | BRCA1 | c.5112A= (p.Leu1704=) c.5115A= (p.Leu1705=) c.4989A= (p.Leu1663=) c.5109A= (p.Leu1703=) c.5037A= (p.Leu1679=) c.1803A= (p.Leu601=) c.1665A= (p.Leu555=) c.4227A= (p.Leu1409=) c.4992A= (p.Leu1664=) c.5181A= (p.Leu1727=) c.4974A= (p.Leu1658=) c.1677A= (p.Leu559=) c.5178A= (p.Leu1726=) c.1502A= c.1689A= (p.Leu563=) c.*4898A= (n.*4898A=) c.1428A= (p.Leu476=) c.45A= (p.Leu15=) c.588A= (p.Leu196=) c.-98-13721A= (n.-98-13721A=) n.5251A= n.5292A= | |
17 | g.43063912A= | CA2260769535 | BRCA1 | c.5111T= (p.Leu1704=) c.5114T= (p.Leu1705=) c.4988T= (p.Leu1663=) c.5108T= (p.Leu1703=) c.5036T= (p.Leu1679=) c.1802T= (p.Leu601=) c.1664T= (p.Leu555=) c.4226T= (p.Leu1409=) c.4991T= (p.Leu1664=) c.5180T= (p.Leu1727=) c.4973T= (p.Leu1658=) c.1676T= (p.Leu559=) c.5177T= (p.Leu1726=) c.1501T= c.1688T= (p.Leu563=) c.*4897T= (n.*4897T=) c.1427T= (p.Leu476=) c.44T= (p.Leu15=) c.587T= (p.Leu196=) c.-98-13722T= (n.-98-13722T=) n.5250T= n.5291T= | |
17 | g.43063912A>C | CA10583550 | BRCA1 | c.5111T>G (p.Leu1704Arg) c.5114T>G (p.Leu1705Arg) c.4988T>G (p.Leu1663Arg) c.5108T>G (p.Leu1703Arg) c.5036T>G (p.Leu1679Arg) c.1802T>G (p.Leu601Arg) c.1664T>G (p.Leu555Arg) c.4226T>G (p.Leu1409Arg) c.4991T>G (p.Leu1664Arg) c.5180T>G (p.Leu1727Arg) c.4973T>G (p.Leu1658Arg) c.1676T>G (p.Leu559Arg) c.5177T>G (p.Leu1726Arg) c.1501T>G c.1688T>G (p.Leu563Arg) c.*4897T>G (n.*4897T>G) c.1427T>G (p.Leu476Arg) c.44T>G (p.Leu15Arg) c.587T>G (p.Leu196Arg) c.-98-13722T>G (n.-98-13722T>G) n.5250T>G n.5291T>G | ClinVar dbSNP |
17 | g.43063912A>G | CA003248 | BRCA1 | c.5111T>C (p.Leu1704Pro) c.5114T>C (p.Leu1705Pro) c.4988T>C (p.Leu1663Pro) c.5108T>C (p.Leu1703Pro) c.5036T>C (p.Leu1679Pro) c.1802T>C (p.Leu601Pro) c.1664T>C (p.Leu555Pro) c.4226T>C (p.Leu1409Pro) c.4991T>C (p.Leu1664Pro) c.5180T>C (p.Leu1727Pro) c.4973T>C (p.Leu1658Pro) c.1676T>C (p.Leu559Pro) c.5177T>C (p.Leu1726Pro) c.1501T>C c.1688T>C (p.Leu563Pro) c.*4897T>C (n.*4897T>C) c.1427T>C (p.Leu476Pro) c.44T>C (p.Leu15Pro) c.587T>C (p.Leu196Pro) c.-98-13722T>C (n.-98-13722T>C) n.5250T>C n.5291T>C | ClinVar dbSNP |
17 | g.43063912A>T | CA10591302 | BRCA1 | c.5111T>A (p.Leu1704Gln) c.5114T>A (p.Leu1705Gln) c.4988T>A (p.Leu1663Gln) c.5108T>A (p.Leu1703Gln) c.5036T>A (p.Leu1679Gln) c.1802T>A (p.Leu601Gln) c.1664T>A (p.Leu555Gln) c.4226T>A (p.Leu1409Gln) c.4991T>A (p.Leu1664Gln) c.5180T>A (p.Leu1727Gln) c.4973T>A (p.Leu1658Gln) c.1676T>A (p.Leu559Gln) c.5177T>A (p.Leu1726Gln) c.1501T>A c.1688T>A (p.Leu563Gln) c.*4897T>A (n.*4897T>A) c.1427T>A (p.Leu476Gln) c.44T>A (p.Leu15Gln) c.587T>A (p.Leu196Gln) c.-98-13722T>A (n.-98-13722T>A) n.5250T>A n.5291T>A | ClinVar dbSNP |
17 | g.43063913_43063914del | CA2499224380 | BRCA1 | c.5110_5111del (p.Leu1704ArgfsTer10) c.5113_5114del (p.Leu1705ArgfsTer10) c.4987_4988del (p.Leu1663ArgfsTer10) c.5107_5108del (p.Leu1703ArgfsTer10) c.5035_5036del (p.Leu1679ArgfsTer10) c.1801_1802del (p.Leu601ArgfsTer10) c.1663_1664del (p.Leu555ArgfsTer10) c.4225_4226del (p.Leu1409ArgfsTer10) c.4990_4991del (p.Leu1664ArgfsTer10) c.5179_5180del (p.Leu1727ArgfsTer10) c.4972_4973del (p.Leu1658ArgfsTer10) c.1675_1676del (p.Leu559ArgfsTer10) c.5176_5177del (p.Leu1726ArgfsTer10) c.1500_1501del c.1687_1688del (p.Leu563ArgfsTer10) c.*4896_*4897del (n.*4896_*4897del) c.1426_1427del (p.Leu476ArgfsTer10) c.43_44del (p.Leu15ArgfsTer10) c.586_587del (p.Leu196ArgfsTer10) c.-98-13723_-98-13722del (n.-98-13723_-98-13722del) n.5249_5250del n.5290_5291del | |
17 | g.43063913G>A | CA003247 | BRCA1 | c.5110C>T (p.Leu1704=) c.5113C>T (p.Leu1705=) c.4987C>T (p.Leu1663=) c.5107C>T (p.Leu1703=) c.5035C>T (p.Leu1679=) c.1801C>T (p.Leu601=) c.1663C>T (p.Leu555=) c.4225C>T (p.Leu1409=) c.4990C>T (p.Leu1664=) c.5179C>T (p.Leu1727=) c.4972C>T (p.Leu1658=) c.1675C>T (p.Leu559=) c.5176C>T (p.Leu1726=) c.1500C>T c.1687C>T (p.Leu563=) c.*4896C>T (n.*4896C>T) c.1426C>T (p.Leu476=) c.43C>T (p.Leu15=) c.586C>T (p.Leu196=) c.-98-13723C>T (n.-98-13723C>T) n.5249C>T n.5290C>T | ClinVar dbSNP gnomAD v4 |
17 | g.43063913G>C | CA003246 | BRCA1 | c.5110C>G (p.Leu1704Val) c.5113C>G (p.Leu1705Val) c.4987C>G (p.Leu1663Val) c.5107C>G (p.Leu1703Val) c.5035C>G (p.Leu1679Val) c.1801C>G (p.Leu601Val) c.1663C>G (p.Leu555Val) c.4225C>G (p.Leu1409Val) c.4990C>G (p.Leu1664Val) c.5179C>G (p.Leu1727Val) c.4972C>G (p.Leu1658Val) c.1675C>G (p.Leu559Val) c.5176C>G (p.Leu1726Val) c.1500C>G c.1687C>G (p.Leu563Val) c.*4896C>G (n.*4896C>G) c.1426C>G (p.Leu476Val) c.43C>G (p.Leu15Val) c.586C>G (p.Leu196Val) c.-98-13723C>G (n.-98-13723C>G) n.5249C>G n.5290C>G | ClinVar dbSNP |
17 | g.43063913G= | CA2260769536 | BRCA1 | c.5110C= (p.Leu1704=) c.5113C= (p.Leu1705=) c.4987C= (p.Leu1663=) c.5107C= (p.Leu1703=) c.5035C= (p.Leu1679=) c.1801C= (p.Leu601=) c.1663C= (p.Leu555=) c.4225C= (p.Leu1409=) c.4990C= (p.Leu1664=) c.5179C= (p.Leu1727=) c.4972C= (p.Leu1658=) c.1675C= (p.Leu559=) c.5176C= (p.Leu1726=) c.1500C= c.1687C= (p.Leu563=) c.*4896C= (n.*4896C=) c.1426C= (p.Leu476=) c.43C= (p.Leu15=) c.586C= (p.Leu196=) c.-98-13723C= (n.-98-13723C=) n.5249C= n.5290C= | |
17 | g.43063913G>T | CA10591303 | BRCA1 | c.5110C>A (p.Leu1704Ile) c.5113C>A (p.Leu1705Ile) c.4987C>A (p.Leu1663Ile) c.5107C>A (p.Leu1703Ile) c.5035C>A (p.Leu1679Ile) c.1801C>A (p.Leu601Ile) c.1663C>A (p.Leu555Ile) c.4225C>A (p.Leu1409Ile) c.4990C>A (p.Leu1664Ile) c.5179C>A (p.Leu1727Ile) c.4972C>A (p.Leu1658Ile) c.1675C>A (p.Leu559Ile) c.5176C>A (p.Leu1726Ile) c.1500C>A c.1687C>A (p.Leu563Ile) c.*4896C>A (n.*4896C>A) c.1426C>A (p.Leu476Ile) c.43C>A (p.Leu15Ile) c.586C>A (p.Leu196Ile) c.-98-13723C>A (n.-98-13723C>A) n.5249C>A n.5290C>A | ClinVar dbSNP |
17 | g.43063913_43063914delinsGA | CA2260769537 | BRCA1 | c.5109_5110delinsTC (p.Phe1703=) c.5112_5113delinsTC (p.Phe1704=) c.4986_4987delinsTC (p.Phe1662=) c.5106_5107delinsTC (p.Phe1702=) c.5034_5035delinsTC (p.Phe1678=) c.1800_1801delinsTC (p.Phe600=) c.1662_1663delinsTC (p.Phe554=) c.4224_4225delinsTC (p.Phe1408=) c.4989_4990delinsTC (p.Phe1663=) c.5178_5179delinsTC (p.Phe1726=) c.4971_4972delinsTC (p.Phe1657=) c.1674_1675delinsTC (p.Phe558=) c.5175_5176delinsTC (p.Phe1725=) c.1499_1500delinsTC c.1686_1687delinsTC (p.Phe562=) c.*4895_*4896delinsTC (n.*4895_*4896delinsTC) c.1425_1426delinsTC (p.Phe475=) c.42_43delinsTC (p.Phe14=) c.585_586delinsTC (p.Phe195=) c.-98-13724_-98-13723delinsTC (n.-98-13724_-98-13723delinsTC) n.5248_5249delinsTC n.5289_5290delinsTC | |
17 | g.43063914A= | CA2260769538 | BRCA1 | c.5109T= (p.Phe1703=) c.5112T= (p.Phe1704=) c.4986T= (p.Phe1662=) c.5106T= (p.Phe1702=) c.5034T= (p.Phe1678=) c.1800T= (p.Phe600=) c.1662T= (p.Phe554=) c.4224T= (p.Phe1408=) c.4989T= (p.Phe1663=) c.5178T= (p.Phe1726=) c.4971T= (p.Phe1657=) c.1674T= (p.Phe558=) c.5175T= (p.Phe1725=) c.1499T= c.1686T= (p.Phe562=) c.*4895T= (n.*4895T=) c.1425T= (p.Phe475=) c.42T= (p.Phe14=) c.585T= (p.Phe195=) c.-98-13724T= (n.-98-13724T=) n.5248T= n.5289T= | |
17 | g.43063914A>C | CA10591304 | BRCA1 | c.5109T>G (p.Phe1703Leu) c.5112T>G (p.Phe1704Leu) c.4986T>G (p.Phe1662Leu) c.5106T>G (p.Phe1702Leu) c.5034T>G (p.Phe1678Leu) c.1800T>G (p.Phe600Leu) c.1662T>G (p.Phe554Leu) c.4224T>G (p.Phe1408Leu) c.4989T>G (p.Phe1663Leu) c.5178T>G (p.Phe1726Leu) c.4971T>G (p.Phe1657Leu) c.1674T>G (p.Phe558Leu) c.5175T>G (p.Phe1725Leu) c.1499T>G c.1686T>G (p.Phe562Leu) c.*4895T>G (n.*4895T>G) c.1425T>G (p.Phe475Leu) c.42T>G (p.Phe14Leu) c.585T>G (p.Phe195Leu) c.-98-13724T>G (n.-98-13724T>G) n.5248T>G n.5289T>G | ClinVar dbSNP |
17 | g.43063914A>G | CA500146201 | BRCA1 | c.5109T>C (p.Phe1703=) c.5112T>C (p.Phe1704=) c.4986T>C (p.Phe1662=) c.5106T>C (p.Phe1702=) c.5034T>C (p.Phe1678=) c.1800T>C (p.Phe600=) c.1662T>C (p.Phe554=) c.4224T>C (p.Phe1408=) c.4989T>C (p.Phe1663=) c.5178T>C (p.Phe1726=) c.4971T>C (p.Phe1657=) c.1674T>C (p.Phe558=) c.5175T>C (p.Phe1725=) c.1499T>C c.1686T>C (p.Phe562=) c.*4895T>C (n.*4895T>C) c.1425T>C (p.Phe475=) c.42T>C (p.Phe14=) c.585T>C (p.Phe195=) c.-98-13724T>C (n.-98-13724T>C) n.5248T>C n.5289T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063914A>T | CA10591305 | BRCA1 | c.5109T>A (p.Phe1703Leu) c.5112T>A (p.Phe1704Leu) c.4986T>A (p.Phe1662Leu) c.5106T>A (p.Phe1702Leu) c.5034T>A (p.Phe1678Leu) c.1800T>A (p.Phe600Leu) c.1662T>A (p.Phe554Leu) c.4224T>A (p.Phe1408Leu) c.4989T>A (p.Phe1663Leu) c.5178T>A (p.Phe1726Leu) c.4971T>A (p.Phe1657Leu) c.1674T>A (p.Phe558Leu) c.5175T>A (p.Phe1725Leu) c.1499T>A c.1686T>A (p.Phe562Leu) c.*4895T>A (n.*4895T>A) c.1425T>A (p.Phe475Leu) c.42T>A (p.Phe14Leu) c.585T>A (p.Phe195Leu) c.-98-13724T>A (n.-98-13724T>A) n.5248T>A n.5289T>A | ClinVar dbSNP |
17 | g.43063917del | CA003245 | BRCA1 | c.5109del (p.Leu1704Ter) c.5112del (p.Leu1705Ter) c.4986del (p.Leu1663Ter) c.5106del (p.Leu1703Ter) c.5034del (p.Leu1679Ter) c.1800del (p.Leu601Ter) c.1662del (p.Leu555Ter) c.4224del (p.Leu1409Ter) c.4989del (p.Leu1664Ter) c.5178del (p.Leu1727Ter) c.4971del (p.Leu1658Ter) c.1674del (p.Leu559Ter) c.5175del (p.Leu1726Ter) c.1499del c.1686del (p.Leu563Ter) c.*4895del (n.*4895del) c.1425del (p.Leu476Ter) c.42del (p.Leu15Ter) c.585del (p.Leu196Ter) c.-98-13724del (n.-98-13724del) n.5248del n.5289del | ClinVar dbSNP |
17 | g.43063915A= | CA2260769539 | BRCA1 | c.5108T= (p.Phe1703=) c.5111T= (p.Phe1704=) c.4985T= (p.Phe1662=) c.5105T= (p.Phe1702=) c.5033T= (p.Phe1678=) c.1799T= (p.Phe600=) c.1661T= (p.Phe554=) c.4223T= (p.Phe1408=) c.4988T= (p.Phe1663=) c.5177T= (p.Phe1726=) c.4970T= (p.Phe1657=) c.1673T= (p.Phe558=) c.5174T= (p.Phe1725=) c.1498T= c.1685T= (p.Phe562=) c.*4894T= (n.*4894T=) c.1424T= (p.Phe475=) c.41T= (p.Phe14=) c.584T= (p.Phe195=) c.-98-13725T= (n.-98-13725T=) n.5247T= n.5288T= | |
17 | g.43063915A>C | CA10591306 | BRCA1 | c.5108T>G (p.Phe1703Cys) c.5111T>G (p.Phe1704Cys) c.4985T>G (p.Phe1662Cys) c.5105T>G (p.Phe1702Cys) c.5033T>G (p.Phe1678Cys) c.1799T>G (p.Phe600Cys) c.1661T>G (p.Phe554Cys) c.4223T>G (p.Phe1408Cys) c.4988T>G (p.Phe1663Cys) c.5177T>G (p.Phe1726Cys) c.4970T>G (p.Phe1657Cys) c.1673T>G (p.Phe558Cys) c.5174T>G (p.Phe1725Cys) c.1498T>G c.1685T>G (p.Phe562Cys) c.*4894T>G (n.*4894T>G) c.1424T>G (p.Phe475Cys) c.41T>G (p.Phe14Cys) c.584T>G (p.Phe195Cys) c.-98-13725T>G (n.-98-13725T>G) n.5247T>G n.5288T>G | ClinVar dbSNP |
17 | g.43063915A>G | CA10591307 | BRCA1 | c.5108T>C (p.Phe1703Ser) c.5111T>C (p.Phe1704Ser) c.4985T>C (p.Phe1662Ser) c.5105T>C (p.Phe1702Ser) c.5033T>C (p.Phe1678Ser) c.1799T>C (p.Phe600Ser) c.1661T>C (p.Phe554Ser) c.4223T>C (p.Phe1408Ser) c.4988T>C (p.Phe1663Ser) c.5177T>C (p.Phe1726Ser) c.4970T>C (p.Phe1657Ser) c.1673T>C (p.Phe558Ser) c.5174T>C (p.Phe1725Ser) c.1498T>C c.1685T>C (p.Phe562Ser) c.*4894T>C (n.*4894T>C) c.1424T>C (p.Phe475Ser) c.41T>C (p.Phe14Ser) c.584T>C (p.Phe195Ser) c.-98-13725T>C (n.-98-13725T>C) n.5247T>C n.5288T>C | ClinVar dbSNP |
17 | g.43063915A>T | CA10591308 | BRCA1 | c.5108T>A (p.Phe1703Tyr) c.5111T>A (p.Phe1704Tyr) c.4985T>A (p.Phe1662Tyr) c.5105T>A (p.Phe1702Tyr) c.5033T>A (p.Phe1678Tyr) c.1799T>A (p.Phe600Tyr) c.1661T>A (p.Phe554Tyr) c.4223T>A (p.Phe1408Tyr) c.4988T>A (p.Phe1663Tyr) c.5177T>A (p.Phe1726Tyr) c.4970T>A (p.Phe1657Tyr) c.1673T>A (p.Phe558Tyr) c.5174T>A (p.Phe1725Tyr) c.1498T>A c.1685T>A (p.Phe562Tyr) c.*4894T>A (n.*4894T>A) c.1424T>A (p.Phe475Tyr) c.41T>A (p.Phe14Tyr) c.584T>A (p.Phe195Tyr) c.-98-13725T>A (n.-98-13725T>A) n.5247T>A n.5288T>A | ClinVar dbSNP |
17 | g.43063916A= | CA2260769540 | BRCA1 | c.5107T= (p.Phe1703=) c.5110T= (p.Phe1704=) c.4984T= (p.Phe1662=) c.5104T= (p.Phe1702=) c.5032T= (p.Phe1678=) c.1798T= (p.Phe600=) c.1660T= (p.Phe554=) c.4222T= (p.Phe1408=) c.4987T= (p.Phe1663=) c.5176T= (p.Phe1726=) c.4969T= (p.Phe1657=) c.1672T= (p.Phe558=) c.5173T= (p.Phe1725=) c.1497T= c.1684T= (p.Phe562=) c.*4893T= (n.*4893T=) c.1423T= (p.Phe475=) c.40T= (p.Phe14=) c.583T= (p.Phe195=) c.-98-13726T= (n.-98-13726T=) n.5246T= n.5287T= | |
17 | g.43063916A>C | CA10591309 | BRCA1 | c.5107T>G (p.Phe1703Val) c.5110T>G (p.Phe1704Val) c.4984T>G (p.Phe1662Val) c.5104T>G (p.Phe1702Val) c.5032T>G (p.Phe1678Val) c.1798T>G (p.Phe600Val) c.1660T>G (p.Phe554Val) c.4222T>G (p.Phe1408Val) c.4987T>G (p.Phe1663Val) c.5176T>G (p.Phe1726Val) c.4969T>G (p.Phe1657Val) c.1672T>G (p.Phe558Val) c.5173T>G (p.Phe1725Val) c.1497T>G c.1684T>G (p.Phe562Val) c.*4893T>G (n.*4893T>G) c.1423T>G (p.Phe475Val) c.40T>G (p.Phe14Val) c.583T>G (p.Phe195Val) c.-98-13726T>G (n.-98-13726T>G) n.5246T>G n.5287T>G | ClinVar dbSNP |
17 | g.43063916A>G | CA10591310 | BRCA1 | c.5107T>C (p.Phe1703Leu) c.5110T>C (p.Phe1704Leu) c.4984T>C (p.Phe1662Leu) c.5104T>C (p.Phe1702Leu) c.5032T>C (p.Phe1678Leu) c.1798T>C (p.Phe600Leu) c.1660T>C (p.Phe554Leu) c.4222T>C (p.Phe1408Leu) c.4987T>C (p.Phe1663Leu) c.5176T>C (p.Phe1726Leu) c.4969T>C (p.Phe1657Leu) c.1672T>C (p.Phe558Leu) c.5173T>C (p.Phe1725Leu) c.1497T>C c.1684T>C (p.Phe562Leu) c.*4893T>C (n.*4893T>C) c.1423T>C (p.Phe475Leu) c.40T>C (p.Phe14Leu) c.583T>C (p.Phe195Leu) c.-98-13726T>C (n.-98-13726T>C) n.5246T>C n.5287T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063916A>T | CA10591311 | BRCA1 | c.5107T>A (p.Phe1703Ile) c.5110T>A (p.Phe1704Ile) c.4984T>A (p.Phe1662Ile) c.5104T>A (p.Phe1702Ile) c.5032T>A (p.Phe1678Ile) c.1798T>A (p.Phe600Ile) c.1660T>A (p.Phe554Ile) c.4222T>A (p.Phe1408Ile) c.4987T>A (p.Phe1663Ile) c.5176T>A (p.Phe1726Ile) c.4969T>A (p.Phe1657Ile) c.1672T>A (p.Phe558Ile) c.5173T>A (p.Phe1725Ile) c.1497T>A c.1684T>A (p.Phe562Ile) c.*4893T>A (n.*4893T>A) c.1423T>A (p.Phe475Ile) c.40T>A (p.Phe14Ile) c.583T>A (p.Phe195Ile) c.-98-13726T>A (n.-98-13726T>A) n.5246T>A n.5287T>A | ClinVar dbSNP |
17 | g.43063917A= | CA2260769541 | BRCA1 | c.5106T= (p.Tyr1702=) c.5109T= (p.Tyr1703=) c.4983T= (p.Tyr1661=) c.5103T= (p.Tyr1701=) c.5031T= (p.Tyr1677=) c.1797T= (p.Tyr599=) c.1659T= (p.Tyr553=) c.4221T= (p.Tyr1407=) c.4986T= (p.Tyr1662=) c.5175T= (p.Tyr1725=) c.4968T= (p.Tyr1656=) c.1671T= (p.Tyr557=) c.5172T= (p.Tyr1724=) c.1496T= c.1683T= (p.Tyr561=) c.*4892T= (n.*4892T=) c.1422T= (p.Tyr474=) c.39T= (p.Tyr13=) c.582T= (p.Tyr194=) c.-98-13727T= (n.-98-13727T=) n.5245T= n.5286T= | |
17 | g.43063917A>C | CA003244 | BRCA1 | c.5106T>G (p.Tyr1702Ter) c.5109T>G (p.Tyr1703Ter) c.4983T>G (p.Tyr1661Ter) c.5103T>G (p.Tyr1701Ter) c.5031T>G (p.Tyr1677Ter) c.1797T>G (p.Tyr599Ter) c.1659T>G (p.Tyr553Ter) c.4221T>G (p.Tyr1407Ter) c.4986T>G (p.Tyr1662Ter) c.5175T>G (p.Tyr1725Ter) c.4968T>G (p.Tyr1656Ter) c.1671T>G (p.Tyr557Ter) c.5172T>G (p.Tyr1724Ter) c.1496T>G c.1683T>G (p.Tyr561Ter) c.*4892T>G (n.*4892T>G) c.1422T>G (p.Tyr474Ter) c.39T>G (p.Tyr13Ter) c.582T>G (p.Tyr194Ter) c.-98-13727T>G (n.-98-13727T>G) n.5245T>G n.5286T>G | ClinVar dbSNP |
17 | g.43063917A>G | CA10583551 | BRCA1 | c.5106T>C (p.Tyr1702=) c.5109T>C (p.Tyr1703=) c.4983T>C (p.Tyr1661=) c.5103T>C (p.Tyr1701=) c.5031T>C (p.Tyr1677=) c.1797T>C (p.Tyr599=) c.1659T>C (p.Tyr553=) c.4221T>C (p.Tyr1407=) c.4986T>C (p.Tyr1662=) c.5175T>C (p.Tyr1725=) c.4968T>C (p.Tyr1656=) c.1671T>C (p.Tyr557=) c.5172T>C (p.Tyr1724=) c.1496T>C c.1683T>C (p.Tyr561=) c.*4892T>C (n.*4892T>C) c.1422T>C (p.Tyr474=) c.39T>C (p.Tyr13=) c.582T>C (p.Tyr194=) c.-98-13727T>C (n.-98-13727T>C) n.5245T>C n.5286T>C | ClinVar dbSNP gnomAD v4 |
17 | g.43063917A>T | CA10591312 | BRCA1 | c.5106T>A (p.Tyr1702Ter) c.5109T>A (p.Tyr1703Ter) c.4983T>A (p.Tyr1661Ter) c.5103T>A (p.Tyr1701Ter) c.5031T>A (p.Tyr1677Ter) c.1797T>A (p.Tyr599Ter) c.1659T>A (p.Tyr553Ter) c.4221T>A (p.Tyr1407Ter) c.4986T>A (p.Tyr1662Ter) c.5175T>A (p.Tyr1725Ter) c.4968T>A (p.Tyr1656Ter) c.1671T>A (p.Tyr557Ter) c.5172T>A (p.Tyr1724Ter) c.1496T>A c.1683T>A (p.Tyr561Ter) c.*4892T>A (n.*4892T>A) c.1422T>A (p.Tyr474Ter) c.39T>A (p.Tyr13Ter) c.582T>A (p.Tyr194Ter) c.-98-13727T>A (n.-98-13727T>A) n.5245T>A n.5286T>A | ClinVar dbSNP |
17 | g.43063918T>A | CA10591313 | BRCA1 | c.5105A>T (p.Tyr1702Phe) c.5108A>T (p.Tyr1703Phe) c.4982A>T (p.Tyr1661Phe) c.5102A>T (p.Tyr1701Phe) c.5030A>T (p.Tyr1677Phe) c.1796A>T (p.Tyr599Phe) c.1658A>T (p.Tyr553Phe) c.4220A>T (p.Tyr1407Phe) c.4985A>T (p.Tyr1662Phe) c.5174A>T (p.Tyr1725Phe) c.4967A>T (p.Tyr1656Phe) c.1670A>T (p.Tyr557Phe) c.5171A>T (p.Tyr1724Phe) c.1495A>T c.1682A>T (p.Tyr561Phe) c.*4891A>T (n.*4891A>T) c.1421A>T (p.Tyr474Phe) c.38A>T (p.Tyr13Phe) c.581A>T (p.Tyr194Phe) c.-98-13728A>T (n.-98-13728A>T) n.5244A>T n.5285A>T | ClinVar dbSNP |
17 | g.43063918T>C | CA10580499 | BRCA1 | c.5105A>G (p.Tyr1702Cys) c.5108A>G (p.Tyr1703Cys) c.4982A>G (p.Tyr1661Cys) c.5102A>G (p.Tyr1701Cys) c.5030A>G (p.Tyr1677Cys) c.1796A>G (p.Tyr599Cys) c.1658A>G (p.Tyr553Cys) c.4220A>G (p.Tyr1407Cys) c.4985A>G (p.Tyr1662Cys) c.5174A>G (p.Tyr1725Cys) c.4967A>G (p.Tyr1656Cys) c.1670A>G (p.Tyr557Cys) c.5171A>G (p.Tyr1724Cys) c.1495A>G c.1682A>G (p.Tyr561Cys) c.*4891A>G (n.*4891A>G) c.1421A>G (p.Tyr474Cys) c.38A>G (p.Tyr13Cys) c.581A>G (p.Tyr194Cys) c.-98-13728A>G (n.-98-13728A>G) n.5244A>G n.5285A>G | ClinVar dbSNP |
17 | g.43063918T>G | CA10591314 | BRCA1 | c.5105A>C (p.Tyr1702Ser) c.5108A>C (p.Tyr1703Ser) c.4982A>C (p.Tyr1661Ser) c.5102A>C (p.Tyr1701Ser) c.5030A>C (p.Tyr1677Ser) c.1796A>C (p.Tyr599Ser) c.1658A>C (p.Tyr553Ser) c.4220A>C (p.Tyr1407Ser) c.4985A>C (p.Tyr1662Ser) c.5174A>C (p.Tyr1725Ser) c.4967A>C (p.Tyr1656Ser) c.1670A>C (p.Tyr557Ser) c.5171A>C (p.Tyr1724Ser) c.1495A>C c.1682A>C (p.Tyr561Ser) c.*4891A>C (n.*4891A>C) c.1421A>C (p.Tyr474Ser) c.38A>C (p.Tyr13Ser) c.581A>C (p.Tyr194Ser) c.-98-13728A>C (n.-98-13728A>C) n.5244A>C n.5285A>C | ClinVar dbSNP |
17 | g.43063918T= | CA2260769542 | BRCA1 | c.5105A= (p.Tyr1702=) c.5108A= (p.Tyr1703=) c.4982A= (p.Tyr1661=) c.5102A= (p.Tyr1701=) c.5030A= (p.Tyr1677=) c.1796A= (p.Tyr599=) c.1658A= (p.Tyr553=) c.4220A= (p.Tyr1407=) c.4985A= (p.Tyr1662=) c.5174A= (p.Tyr1725=) c.4967A= (p.Tyr1656=) c.1670A= (p.Tyr557=) c.5171A= (p.Tyr1724=) c.1495A= c.1682A= (p.Tyr561=) c.*4891A= (n.*4891A=) c.1421A= (p.Tyr474=) c.38A= (p.Tyr13=) c.581A= (p.Tyr194=) c.-98-13728A= (n.-98-13728A=) n.5244A= n.5285A= | |
17 | g.43063919A= | CA2260769543 | BRCA1 | c.5104T= (p.Tyr1702=) c.5107T= (p.Tyr1703=) c.4981T= (p.Tyr1661=) c.5101T= (p.Tyr1701=) c.5029T= (p.Tyr1677=) c.1795T= (p.Tyr599=) c.1657T= (p.Tyr553=) c.4219T= (p.Tyr1407=) c.4984T= (p.Tyr1662=) c.5173T= (p.Tyr1725=) c.4966T= (p.Tyr1656=) c.1669T= (p.Tyr557=) c.5170T= (p.Tyr1724=) c.1494T= c.1681T= (p.Tyr561=) c.*4890T= (n.*4890T=) c.1420T= (p.Tyr474=) c.37T= (p.Tyr13=) c.580T= (p.Tyr194=) c.-98-13729T= (n.-98-13729T=) n.5243T= n.5284T= | |
17 | g.43063919A>C | CA10586112 | BRCA1 | c.5104T>G (p.Tyr1702Asp) c.5107T>G (p.Tyr1703Asp) c.4981T>G (p.Tyr1661Asp) c.5101T>G (p.Tyr1701Asp) c.5029T>G (p.Tyr1677Asp) c.1795T>G (p.Tyr599Asp) c.1657T>G (p.Tyr553Asp) c.4219T>G (p.Tyr1407Asp) c.4984T>G (p.Tyr1662Asp) c.5173T>G (p.Tyr1725Asp) c.4966T>G (p.Tyr1656Asp) c.1669T>G (p.Tyr557Asp) c.5170T>G (p.Tyr1724Asp) c.1494T>G c.1681T>G (p.Tyr561Asp) c.*4890T>G (n.*4890T>G) c.1420T>G (p.Tyr474Asp) c.37T>G (p.Tyr13Asp) c.580T>G (p.Tyr194Asp) c.-98-13729T>G (n.-98-13729T>G) n.5243T>G n.5284T>G | ClinVar dbSNP |
17 | g.43063919A>G | CA337043 | BRCA1 | c.5104T>C (p.Tyr1702His) c.5107T>C (p.Tyr1703His) c.4981T>C (p.Tyr1661His) c.5101T>C (p.Tyr1701His) c.5029T>C (p.Tyr1677His) c.1795T>C (p.Tyr599His) c.1657T>C (p.Tyr553His) c.4219T>C (p.Tyr1407His) c.4984T>C (p.Tyr1662His) c.5173T>C (p.Tyr1725His) c.4966T>C (p.Tyr1656His) c.1669T>C (p.Tyr557His) c.5170T>C (p.Tyr1724His) c.1494T>C c.1681T>C (p.Tyr561His) c.*4890T>C (n.*4890T>C) c.1420T>C (p.Tyr474His) c.37T>C (p.Tyr13His) c.580T>C (p.Tyr194His) c.-98-13729T>C (n.-98-13729T>C) n.5243T>C n.5284T>C | ClinVar dbSNP |
17 | g.43063919A>T | CA10591315 | BRCA1 | c.5104T>A (p.Tyr1702Asn) c.5107T>A (p.Tyr1703Asn) c.4981T>A (p.Tyr1661Asn) c.5101T>A (p.Tyr1701Asn) c.5029T>A (p.Tyr1677Asn) c.1795T>A (p.Tyr599Asn) c.1657T>A (p.Tyr553Asn) c.4219T>A (p.Tyr1407Asn) c.4984T>A (p.Tyr1662Asn) c.5173T>A (p.Tyr1725Asn) c.4966T>A (p.Tyr1656Asn) c.1669T>A (p.Tyr557Asn) c.5170T>A (p.Tyr1724Asn) c.1494T>A c.1681T>A (p.Tyr561Asn) c.*4890T>A (n.*4890T>A) c.1420T>A (p.Tyr474Asn) c.37T>A (p.Tyr13Asn) c.580T>A (p.Tyr194Asn) c.-98-13729T>A (n.-98-13729T>A) n.5243T>A n.5284T>A | ClinVar dbSNP |
17 | g.43063919_43063920delinsAT | CA2260769544 | BRCA1 | c.5103_5104delinsAT (p.Lys1701=) c.5106_5107delinsAT (p.Lys1702=) c.4980_4981delinsAT (p.Lys1660=) c.5100_5101delinsAT (p.Lys1700=) c.5028_5029delinsAT (p.Lys1676=) c.1794_1795delinsAT (p.Lys598=) c.1656_1657delinsAT (p.Lys552=) c.4218_4219delinsAT (p.Lys1406=) c.4983_4984delinsAT (p.Lys1661=) c.5172_5173delinsAT (p.Lys1724=) c.4965_4966delinsAT (p.Lys1655=) c.1668_1669delinsAT (p.Lys556=) c.5169_5170delinsAT (p.Lys1723=) c.1493_1494delinsAT c.1680_1681delinsAT (p.Lys560=) c.*4889_*4890delinsAT (n.*4889_*4890delinsAT) c.1419_1420delinsAT (p.Lys473=) c.36_37delinsAT (p.Lys12=) c.579_580delinsAT (p.Lys193=) c.-98-13730_-98-13729delinsAT (n.-98-13730_-98-13729delinsAT) n.5242_5243delinsAT n.5283_5284delinsAT | |
17 | g.43063920T>A | CA10591316 | BRCA1 | c.5103A>T (p.Lys1701Asn) c.5106A>T (p.Lys1702Asn) c.4980A>T (p.Lys1660Asn) c.5100A>T (p.Lys1700Asn) c.5028A>T (p.Lys1676Asn) c.1794A>T (p.Lys598Asn) c.1656A>T (p.Lys552Asn) c.4218A>T (p.Lys1406Asn) c.4983A>T (p.Lys1661Asn) c.5172A>T (p.Lys1724Asn) c.4965A>T (p.Lys1655Asn) c.1668A>T (p.Lys556Asn) c.5169A>T (p.Lys1723Asn) c.1493A>T c.1680A>T (p.Lys560Asn) c.*4889A>T (n.*4889A>T) c.1419A>T (p.Lys473Asn) c.36A>T (p.Lys12Asn) c.579A>T (p.Lys193Asn) c.-98-13730A>T (n.-98-13730A>T) n.5242A>T n.5283A>T | ClinVar dbSNP |
17 | g.43063920T>C | CA16615748 | BRCA1 | c.5103A>G (p.Lys1701=) c.5106A>G (p.Lys1702=) c.4980A>G (p.Lys1660=) c.5100A>G (p.Lys1700=) c.5028A>G (p.Lys1676=) c.1794A>G (p.Lys598=) c.1656A>G (p.Lys552=) c.4218A>G (p.Lys1406=) c.4983A>G (p.Lys1661=) c.5172A>G (p.Lys1724=) c.4965A>G (p.Lys1655=) c.1668A>G (p.Lys556=) c.5169A>G (p.Lys1723=) c.1493A>G c.1680A>G (p.Lys560=) c.*4889A>G (n.*4889A>G) c.1419A>G (p.Lys473=) c.36A>G (p.Lys12=) c.579A>G (p.Lys193=) c.-98-13730A>G (n.-98-13730A>G) n.5242A>G n.5283A>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063920T>G | CA10591317 | BRCA1 | c.5103A>C (p.Lys1701Asn) c.5106A>C (p.Lys1702Asn) c.4980A>C (p.Lys1660Asn) c.5100A>C (p.Lys1700Asn) c.5028A>C (p.Lys1676Asn) c.1794A>C (p.Lys598Asn) c.1656A>C (p.Lys552Asn) c.4218A>C (p.Lys1406Asn) c.4983A>C (p.Lys1661Asn) c.5172A>C (p.Lys1724Asn) c.4965A>C (p.Lys1655Asn) c.1668A>C (p.Lys556Asn) c.5169A>C (p.Lys1723Asn) c.1493A>C c.1680A>C (p.Lys560Asn) c.*4889A>C (n.*4889A>C) c.1419A>C (p.Lys473Asn) c.36A>C (p.Lys12Asn) c.579A>C (p.Lys193Asn) c.-98-13730A>C (n.-98-13730A>C) n.5242A>C n.5283A>C | ClinVar dbSNP |
17 | g.43063920T= | CA2260769545 | BRCA1 | c.5103A= (p.Lys1701=) c.5106A= (p.Lys1702=) c.4980A= (p.Lys1660=) c.5100A= (p.Lys1700=) c.5028A= (p.Lys1676=) c.1794A= (p.Lys598=) c.1656A= (p.Lys552=) c.4218A= (p.Lys1406=) c.4983A= (p.Lys1661=) c.5172A= (p.Lys1724=) c.4965A= (p.Lys1655=) c.1668A= (p.Lys556=) c.5169A= (p.Lys1723=) c.1493A= c.1680A= (p.Lys560=) c.*4889A= (n.*4889A=) c.1419A= (p.Lys473=) c.36A= (p.Lys12=) c.579A= (p.Lys193=) c.-98-13730A= (n.-98-13730A=) n.5242A= n.5283A= | |
17 | g.43063922del | CA003243 | BRCA1 | c.5103del (p.Lys1701AsnfsTer4) c.5106del (p.Lys1702AsnfsTer4) c.4980del (p.Lys1660AsnfsTer4) c.5100del (p.Lys1700AsnfsTer4) c.5028del (p.Lys1676AsnfsTer4) c.1794del (p.Lys598AsnfsTer4) c.1656del (p.Lys552AsnfsTer4) c.4218del (p.Lys1406AsnfsTer4) c.4983del (p.Lys1661AsnfsTer4) c.5172del (p.Lys1724AsnfsTer4) c.4965del (p.Lys1655AsnfsTer4) c.1668del (p.Lys556AsnfsTer4) c.5169del (p.Lys1723AsnfsTer4) c.1493del c.1680del (p.Lys560AsnfsTer4) c.*4889del (n.*4889del) c.1419del (p.Lys473AsnfsTer4) c.36del (p.Lys12AsnfsTer4) c.579del (p.Lys193AsnfsTer4) c.-98-13730del (n.-98-13730del) n.5242del n.5283del | ClinVar dbSNP |
17 | g.43063921T>A | CA10591318 | BRCA1 | c.5102A>T (p.Lys1701Ile) c.5105A>T (p.Lys1702Ile) c.4979A>T (p.Lys1660Ile) c.5099A>T (p.Lys1700Ile) c.5027A>T (p.Lys1676Ile) c.1793A>T (p.Lys598Ile) c.1655A>T (p.Lys552Ile) c.4217A>T (p.Lys1406Ile) c.4982A>T (p.Lys1661Ile) c.5171A>T (p.Lys1724Ile) c.4964A>T (p.Lys1655Ile) c.1667A>T (p.Lys556Ile) c.5168A>T (p.Lys1723Ile) c.1492A>T c.1679A>T (p.Lys560Ile) c.*4888A>T (n.*4888A>T) c.1418A>T (p.Lys473Ile) c.35A>T (p.Lys12Ile) c.578A>T (p.Lys193Ile) c.-98-13731A>T (n.-98-13731A>T) n.5241A>T n.5282A>T | ClinVar dbSNP |
17 | g.43063921T>C | CA10591319 | BRCA1 | c.5102A>G (p.Lys1701Arg) c.5105A>G (p.Lys1702Arg) c.4979A>G (p.Lys1660Arg) c.5099A>G (p.Lys1700Arg) c.5027A>G (p.Lys1676Arg) c.1793A>G (p.Lys598Arg) c.1655A>G (p.Lys552Arg) c.4217A>G (p.Lys1406Arg) c.4982A>G (p.Lys1661Arg) c.5171A>G (p.Lys1724Arg) c.4964A>G (p.Lys1655Arg) c.1667A>G (p.Lys556Arg) c.5168A>G (p.Lys1723Arg) c.1492A>G c.1679A>G (p.Lys560Arg) c.*4888A>G (n.*4888A>G) c.1418A>G (p.Lys473Arg) c.35A>G (p.Lys12Arg) c.578A>G (p.Lys193Arg) c.-98-13731A>G (n.-98-13731A>G) n.5241A>G n.5282A>G | ClinVar dbSNP |
17 | g.43063921T>G | CA10591320 | BRCA1 | c.5102A>C (p.Lys1701Thr) c.5105A>C (p.Lys1702Thr) c.4979A>C (p.Lys1660Thr) c.5099A>C (p.Lys1700Thr) c.5027A>C (p.Lys1676Thr) c.1793A>C (p.Lys598Thr) c.1655A>C (p.Lys552Thr) c.4217A>C (p.Lys1406Thr) c.4982A>C (p.Lys1661Thr) c.5171A>C (p.Lys1724Thr) c.4964A>C (p.Lys1655Thr) c.1667A>C (p.Lys556Thr) c.5168A>C (p.Lys1723Thr) c.1492A>C c.1679A>C (p.Lys560Thr) c.*4888A>C (n.*4888A>C) c.1418A>C (p.Lys473Thr) c.35A>C (p.Lys12Thr) c.578A>C (p.Lys193Thr) c.-98-13731A>C (n.-98-13731A>C) n.5241A>C n.5282A>C | ClinVar dbSNP |
17 | g.43063921T= | CA2260769546 | BRCA1 | c.5102A= (p.Lys1701=) c.5105A= (p.Lys1702=) c.4979A= (p.Lys1660=) c.5099A= (p.Lys1700=) c.5027A= (p.Lys1676=) c.1793A= (p.Lys598=) c.1655A= (p.Lys552=) c.4217A= (p.Lys1406=) c.4982A= (p.Lys1661=) c.5171A= (p.Lys1724=) c.4964A= (p.Lys1655=) c.1667A= (p.Lys556=) c.5168A= (p.Lys1723=) c.1492A= c.1679A= (p.Lys560=) c.*4888A= (n.*4888A=) c.1418A= (p.Lys473=) c.35A= (p.Lys12=) c.578A= (p.Lys193=) c.-98-13731A= (n.-98-13731A=) n.5241A= n.5282A= | |
17 | g.43063922T>A | CA10591321 | BRCA1 | c.5101A>T (p.Lys1701Ter) c.5104A>T (p.Lys1702Ter) c.4978A>T (p.Lys1660Ter) c.5098A>T (p.Lys1700Ter) c.5026A>T (p.Lys1676Ter) c.1792A>T (p.Lys598Ter) c.1654A>T (p.Lys552Ter) c.4216A>T (p.Lys1406Ter) c.4981A>T (p.Lys1661Ter) c.5170A>T (p.Lys1724Ter) c.4963A>T (p.Lys1655Ter) c.1666A>T (p.Lys556Ter) c.5167A>T (p.Lys1723Ter) c.1491A>T c.1678A>T (p.Lys560Ter) c.*4887A>T (n.*4887A>T) c.1417A>T (p.Lys473Ter) c.34A>T (p.Lys12Ter) c.577A>T (p.Lys193Ter) c.-98-13732A>T (n.-98-13732A>T) n.5240A>T n.5281A>T | ClinVar dbSNP |
17 | g.43063922T>C | CA10591322 | BRCA1 | c.5101A>G (p.Lys1701Glu) c.5104A>G (p.Lys1702Glu) c.4978A>G (p.Lys1660Glu) c.5098A>G (p.Lys1700Glu) c.5026A>G (p.Lys1676Glu) c.1792A>G (p.Lys598Glu) c.1654A>G (p.Lys552Glu) c.4216A>G (p.Lys1406Glu) c.4981A>G (p.Lys1661Glu) c.5170A>G (p.Lys1724Glu) c.4963A>G (p.Lys1655Glu) c.1666A>G (p.Lys556Glu) c.5167A>G (p.Lys1723Glu) c.1491A>G c.1678A>G (p.Lys560Glu) c.*4887A>G (n.*4887A>G) c.1417A>G (p.Lys473Glu) c.34A>G (p.Lys12Glu) c.577A>G (p.Lys193Glu) c.-98-13732A>G (n.-98-13732A>G) n.5240A>G n.5281A>G | ClinVar dbSNP |
17 | g.43063922T>G | CA10591323 | BRCA1 | c.5101A>C (p.Lys1701Gln) c.5104A>C (p.Lys1702Gln) c.4978A>C (p.Lys1660Gln) c.5098A>C (p.Lys1700Gln) c.5026A>C (p.Lys1676Gln) c.1792A>C (p.Lys598Gln) c.1654A>C (p.Lys552Gln) c.4216A>C (p.Lys1406Gln) c.4981A>C (p.Lys1661Gln) c.5170A>C (p.Lys1724Gln) c.4963A>C (p.Lys1655Gln) c.1666A>C (p.Lys556Gln) c.5167A>C (p.Lys1723Gln) c.1491A>C c.1678A>C (p.Lys560Gln) c.*4887A>C (n.*4887A>C) c.1417A>C (p.Lys473Gln) c.34A>C (p.Lys12Gln) c.577A>C (p.Lys193Gln) c.-98-13732A>C (n.-98-13732A>C) n.5240A>C n.5281A>C | ClinVar dbSNP |
17 | g.43063922T= | CA2260769548 | BRCA1 | c.5101A= (p.Lys1701=) c.5104A= (p.Lys1702=) c.4978A= (p.Lys1660=) c.5098A= (p.Lys1700=) c.5026A= (p.Lys1676=) c.1792A= (p.Lys598=) c.1654A= (p.Lys552=) c.4216A= (p.Lys1406=) c.4981A= (p.Lys1661=) c.5170A= (p.Lys1724=) c.4963A= (p.Lys1655=) c.1666A= (p.Lys556=) c.5167A= (p.Lys1723=) c.1491A= c.1678A= (p.Lys560=) c.*4887A= (n.*4887A=) c.1417A= (p.Lys473=) c.34A= (p.Lys12=) c.577A= (p.Lys193=) c.-98-13732A= (n.-98-13732A=) n.5240A= n.5281A= | |
17 | g.43063922_43063924delinsTCA | CA2260769547 | BRCA1 | c.5099_5101delinsTGA (p.Leu1700=) c.5102_5104delinsTGA (p.Leu1701=) c.4976_4978delinsTGA (p.Leu1659=) c.5096_5098delinsTGA (p.Leu1699=) c.5024_5026delinsTGA (p.Leu1675=) c.1790_1792delinsTGA (p.Leu597=) c.1652_1654delinsTGA (p.Leu551=) c.4214_4216delinsTGA (p.Leu1405=) c.4979_4981delinsTGA (p.Leu1660=) c.5168_5170delinsTGA (p.Leu1723=) c.4961_4963delinsTGA (p.Leu1654=) c.1664_1666delinsTGA (p.Leu555=) c.5165_5167delinsTGA (p.Leu1722=) c.1489_1491delinsTGA c.1676_1678delinsTGA (p.Leu559=) c.*4885_*4887delinsTGA (n.*4885_*4887delinsTGA) c.1415_1417delinsTGA (p.Leu472=) c.32_34delinsTGA (p.Leu11=) c.575_577delinsTGA (p.Leu192=) c.-98-13734_-98-13732delinsTGA (n.-98-13734_-98-13732delinsTGA) n.5238_5240delinsTGA n.5279_5281delinsTGA | |
17 | g.43063923C>A | CA500146203 | BRCA1 | c.5100G>T (p.Leu1700=) c.5103G>T (p.Leu1701=) c.4977G>T (p.Leu1659=) c.5097G>T (p.Leu1699=) c.5025G>T (p.Leu1675=) c.1791G>T (p.Leu597=) c.1653G>T (p.Leu551=) c.4215G>T (p.Leu1405=) c.4980G>T (p.Leu1660=) c.5169G>T (p.Leu1723=) c.4962G>T (p.Leu1654=) c.1665G>T (p.Leu555=) c.5166G>T (p.Leu1722=) c.1490G>T c.1677G>T (p.Leu559=) c.*4886G>T (n.*4886G>T) c.1416G>T (p.Leu472=) c.33G>T (p.Leu11=) c.576G>T (p.Leu192=) c.-98-13733G>T (n.-98-13733G>T) n.5239G>T n.5280G>T | ClinVar dbSNP |
17 | g.43063923C= | CA2260769549 | BRCA1 | c.5100G= (p.Leu1700=) c.5103G= (p.Leu1701=) c.4977G= (p.Leu1659=) c.5097G= (p.Leu1699=) c.5025G= (p.Leu1675=) c.1791G= (p.Leu597=) c.1653G= (p.Leu551=) c.4215G= (p.Leu1405=) c.4980G= (p.Leu1660=) c.5169G= (p.Leu1723=) c.4962G= (p.Leu1654=) c.1665G= (p.Leu555=) c.5166G= (p.Leu1722=) c.1490G= c.1677G= (p.Leu559=) c.*4886G= (n.*4886G=) c.1416G= (p.Leu472=) c.33G= (p.Leu11=) c.576G= (p.Leu192=) c.-98-13733G= (n.-98-13733G=) n.5239G= n.5280G= | |
17 | g.43063923C>G | CA500146204 | BRCA1 | c.5100G>C (p.Leu1700=) c.5103G>C (p.Leu1701=) c.4977G>C (p.Leu1659=) c.5097G>C (p.Leu1699=) c.5025G>C (p.Leu1675=) c.1791G>C (p.Leu597=) c.1653G>C (p.Leu551=) c.4215G>C (p.Leu1405=) c.4980G>C (p.Leu1660=) c.5169G>C (p.Leu1723=) c.4962G>C (p.Leu1654=) c.1665G>C (p.Leu555=) c.5166G>C (p.Leu1722=) c.1490G>C c.1677G>C (p.Leu559=) c.*4886G>C (n.*4886G>C) c.1416G>C (p.Leu472=) c.33G>C (p.Leu11=) c.576G>C (p.Leu192=) c.-98-13733G>C (n.-98-13733G>C) n.5239G>C n.5280G>C | ClinVar dbSNP |
17 | g.43063923C>T | CA16615656 | BRCA1 | c.5100G>A (p.Leu1700=) c.5103G>A (p.Leu1701=) c.4977G>A (p.Leu1659=) c.5097G>A (p.Leu1699=) c.5025G>A (p.Leu1675=) c.1791G>A (p.Leu597=) c.1653G>A (p.Leu551=) c.4215G>A (p.Leu1405=) c.4980G>A (p.Leu1660=) c.5169G>A (p.Leu1723=) c.4962G>A (p.Leu1654=) c.1665G>A (p.Leu555=) c.5166G>A (p.Leu1722=) c.1490G>A c.1677G>A (p.Leu559=) c.*4886G>A (n.*4886G>A) c.1416G>A (p.Leu472=) c.33G>A (p.Leu11=) c.576G>A (p.Leu192=) c.-98-13733G>A (n.-98-13733G>A) n.5239G>A n.5280G>A | ClinVar dbSNP gnomAD v4 |
17 | g.43063923_43063924del | CA003242 | BRCA1 | c.5099_5100del (p.Leu1700GlnfsTer14) c.5102_5103del (p.Leu1701GlnfsTer14) c.4976_4977del (p.Leu1659GlnfsTer14) c.5096_5097del (p.Leu1699GlnfsTer14) c.5024_5025del (p.Leu1675GlnfsTer14) c.1790_1791del (p.Leu597GlnfsTer14) c.1652_1653del (p.Leu551GlnfsTer14) c.4214_4215del (p.Leu1405GlnfsTer14) c.4979_4980del (p.Leu1660GlnfsTer14) c.5168_5169del (p.Leu1723GlnfsTer14) c.4961_4962del (p.Leu1654GlnfsTer14) c.1664_1665del (p.Leu555GlnfsTer14) c.5165_5166del (p.Leu1722GlnfsTer14) c.1489_1490del c.1676_1677del (p.Leu559GlnfsTer14) c.*4885_*4886del (n.*4885_*4886del) c.1415_1416del (p.Leu472GlnfsTer14) c.32_33del (p.Leu11GlnfsTer14) c.575_576del (p.Leu192GlnfsTer14) c.-98-13734_-98-13733del (n.-98-13734_-98-13733del) n.5238_5239del n.5279_5280del | ClinVar dbSNP ExAC |
17 | g.43063923_43063924delinsCA | CA2260769550 | BRCA1 | c.5099_5100delinsTG (p.Leu1700=) c.5102_5103delinsTG (p.Leu1701=) c.4976_4977delinsTG (p.Leu1659=) c.5096_5097delinsTG (p.Leu1699=) c.5024_5025delinsTG (p.Leu1675=) c.1790_1791delinsTG (p.Leu597=) c.1652_1653delinsTG (p.Leu551=) c.4214_4215delinsTG (p.Leu1405=) c.4979_4980delinsTG (p.Leu1660=) c.5168_5169delinsTG (p.Leu1723=) c.4961_4962delinsTG (p.Leu1654=) c.1664_1665delinsTG (p.Leu555=) c.5165_5166delinsTG (p.Leu1722=) c.1489_1490delinsTG c.1676_1677delinsTG (p.Leu559=) c.*4885_*4886delinsTG (n.*4885_*4886delinsTG) c.1415_1416delinsTG (p.Leu472=) c.32_33delinsTG (p.Leu11=) c.575_576delinsTG (p.Leu192=) c.-98-13734_-98-13733delinsTG (n.-98-13734_-98-13733delinsTG) n.5238_5239delinsTG n.5279_5280delinsTG | |
17 | g.43063924del | CA658824722 | BRCA1 | c.5099del (p.Leu1700ArgfsTer5) c.5102del (p.Leu1701ArgfsTer5) c.4976del (p.Leu1659ArgfsTer5) c.5096del (p.Leu1699ArgfsTer5) c.5024del (p.Leu1675ArgfsTer5) c.1790del (p.Leu597ArgfsTer5) c.1652del (p.Leu551ArgfsTer5) c.4214del (p.Leu1405ArgfsTer5) c.4979del (p.Leu1660ArgfsTer5) c.5168del (p.Leu1723ArgfsTer5) c.4961del (p.Leu1654ArgfsTer5) c.1664del (p.Leu555ArgfsTer5) c.5165del (p.Leu1722ArgfsTer5) c.1489del c.1676del (p.Leu559ArgfsTer5) c.*4885del (n.*4885del) c.1415del (p.Leu472ArgfsTer5) c.32del (p.Leu11ArgfsTer5) c.575del (p.Leu192ArgfsTer5) c.-98-13734del (n.-98-13734del) n.5238del n.5279del | ClinVar dbSNP |
17 | g.43063924A= | CA2260769551 | BRCA1 | c.5099T= (p.Leu1700=) c.5102T= (p.Leu1701=) c.4976T= (p.Leu1659=) c.5096T= (p.Leu1699=) c.5024T= (p.Leu1675=) c.1790T= (p.Leu597=) c.1652T= (p.Leu551=) c.4214T= (p.Leu1405=) c.4979T= (p.Leu1660=) c.5168T= (p.Leu1723=) c.4961T= (p.Leu1654=) c.1664T= (p.Leu555=) c.5165T= (p.Leu1722=) c.1489T= c.1676T= (p.Leu559=) c.*4885T= (n.*4885T=) c.1415T= (p.Leu472=) c.32T= (p.Leu11=) c.575T= (p.Leu192=) c.-98-13734T= (n.-98-13734T=) n.5238T= n.5279T= | |
17 | g.43063924A>C | CA10591324 | BRCA1 | c.5099T>G (p.Leu1700Arg) c.5102T>G (p.Leu1701Arg) c.4976T>G (p.Leu1659Arg) c.5096T>G (p.Leu1699Arg) c.5024T>G (p.Leu1675Arg) c.1790T>G (p.Leu597Arg) c.1652T>G (p.Leu551Arg) c.4214T>G (p.Leu1405Arg) c.4979T>G (p.Leu1660Arg) c.5168T>G (p.Leu1723Arg) c.4961T>G (p.Leu1654Arg) c.1664T>G (p.Leu555Arg) c.5165T>G (p.Leu1722Arg) c.1489T>G c.1676T>G (p.Leu559Arg) c.*4885T>G (n.*4885T>G) c.1415T>G (p.Leu472Arg) c.32T>G (p.Leu11Arg) c.575T>G (p.Leu192Arg) c.-98-13734T>G (n.-98-13734T>G) n.5238T>G n.5279T>G | ClinVar dbSNP |
17 | g.43063924A>G | CA10591325 | BRCA1 | c.5099T>C (p.Leu1700Pro) c.5102T>C (p.Leu1701Pro) c.4976T>C (p.Leu1659Pro) c.5096T>C (p.Leu1699Pro) c.5024T>C (p.Leu1675Pro) c.1790T>C (p.Leu597Pro) c.1652T>C (p.Leu551Pro) c.4214T>C (p.Leu1405Pro) c.4979T>C (p.Leu1660Pro) c.5168T>C (p.Leu1723Pro) c.4961T>C (p.Leu1654Pro) c.1664T>C (p.Leu555Pro) c.5165T>C (p.Leu1722Pro) c.1489T>C c.1676T>C (p.Leu559Pro) c.*4885T>C (n.*4885T>C) c.1415T>C (p.Leu472Pro) c.32T>C (p.Leu11Pro) c.575T>C (p.Leu192Pro) c.-98-13734T>C (n.-98-13734T>C) n.5238T>C n.5279T>C | ClinVar dbSNP |
17 | g.43063924A>T | CA10591326 | BRCA1 | c.5099T>A (p.Leu1700Gln) c.5102T>A (p.Leu1701Gln) c.4976T>A (p.Leu1659Gln) c.5096T>A (p.Leu1699Gln) c.5024T>A (p.Leu1675Gln) c.1790T>A (p.Leu597Gln) c.1652T>A (p.Leu551Gln) c.4214T>A (p.Leu1405Gln) c.4979T>A (p.Leu1660Gln) c.5168T>A (p.Leu1723Gln) c.4961T>A (p.Leu1654Gln) c.1664T>A (p.Leu555Gln) c.5165T>A (p.Leu1722Gln) c.1489T>A c.1676T>A (p.Leu559Gln) c.*4885T>A (n.*4885T>A) c.1415T>A (p.Leu472Gln) c.32T>A (p.Leu11Gln) c.575T>A (p.Leu192Gln) c.-98-13734T>A (n.-98-13734T>A) n.5238T>A n.5279T>A | ClinVar dbSNP |
17 | g.43063925G>A | CA500146205 | BRCA1 | c.5098C>T (p.Leu1700=) c.5101C>T (p.Leu1701=) c.4975C>T (p.Leu1659=) c.5095C>T (p.Leu1699=) c.5023C>T (p.Leu1675=) c.1789C>T (p.Leu597=) c.1651C>T (p.Leu551=) c.4213C>T (p.Leu1405=) c.4978C>T (p.Leu1660=) c.5167C>T (p.Leu1723=) c.4960C>T (p.Leu1654=) c.1663C>T (p.Leu555=) c.5164C>T (p.Leu1722=) c.1488C>T c.1675C>T (p.Leu559=) c.*4884C>T (n.*4884C>T) c.1414C>T (p.Leu472=) c.31C>T (p.Leu11=) c.574C>T (p.Leu192=) c.-98-13735C>T (n.-98-13735C>T) n.5237C>T n.5278C>T | ClinVar dbSNP |
17 | g.43063925G>C | CA10591327 | BRCA1 | c.5098C>G (p.Leu1700Val) c.5101C>G (p.Leu1701Val) c.4975C>G (p.Leu1659Val) c.5095C>G (p.Leu1699Val) c.5023C>G (p.Leu1675Val) c.1789C>G (p.Leu597Val) c.1651C>G (p.Leu551Val) c.4213C>G (p.Leu1405Val) c.4978C>G (p.Leu1660Val) c.5167C>G (p.Leu1723Val) c.4960C>G (p.Leu1654Val) c.1663C>G (p.Leu555Val) c.5164C>G (p.Leu1722Val) c.1488C>G c.1675C>G (p.Leu559Val) c.*4884C>G (n.*4884C>G) c.1414C>G (p.Leu472Val) c.31C>G (p.Leu11Val) c.574C>G (p.Leu192Val) c.-98-13735C>G (n.-98-13735C>G) n.5237C>G n.5278C>G | ClinVar dbSNP gnomAD v4 |
17 | g.43063925G= | CA2260769552 | BRCA1 | c.5098C= (p.Leu1700=) c.5101C= (p.Leu1701=) c.4975C= (p.Leu1659=) c.5095C= (p.Leu1699=) c.5023C= (p.Leu1675=) c.1789C= (p.Leu597=) c.1651C= (p.Leu551=) c.4213C= (p.Leu1405=) c.4978C= (p.Leu1660=) c.5167C= (p.Leu1723=) c.4960C= (p.Leu1654=) c.1663C= (p.Leu555=) c.5164C= (p.Leu1722=) c.1488C= c.1675C= (p.Leu559=) c.*4884C= (n.*4884C=) c.1414C= (p.Leu472=) c.31C= (p.Leu11=) c.574C= (p.Leu192=) c.-98-13735C= (n.-98-13735C=) n.5237C= n.5278C= | |
17 | g.43063925G>T | CA10591328 | BRCA1 | c.5098C>A (p.Leu1700Met) c.5101C>A (p.Leu1701Met) c.4975C>A (p.Leu1659Met) c.5095C>A (p.Leu1699Met) c.5023C>A (p.Leu1675Met) c.1789C>A (p.Leu597Met) c.1651C>A (p.Leu551Met) c.4213C>A (p.Leu1405Met) c.4978C>A (p.Leu1660Met) c.5167C>A (p.Leu1723Met) c.4960C>A (p.Leu1654Met) c.1663C>A (p.Leu555Met) c.5164C>A (p.Leu1722Met) c.1488C>A c.1675C>A (p.Leu559Met) c.*4884C>A (n.*4884C>A) c.1414C>A (p.Leu472Met) c.31C>A (p.Leu11Met) c.574C>A (p.Leu192Met) c.-98-13735C>A (n.-98-13735C>A) n.5237C>A n.5278C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063926T>A | CA500146207 | BRCA1 | c.5097A>T (p.Thr1699=) c.5100A>T (p.Thr1700=) c.4974A>T (p.Thr1658=) c.5094A>T (p.Thr1698=) c.5022A>T (p.Thr1674=) c.1788A>T (p.Thr596=) c.1650A>T (p.Thr550=) c.4212A>T (p.Thr1404=) c.4977A>T (p.Thr1659=) c.5166A>T (p.Thr1722=) c.4959A>T (p.Thr1653=) c.1662A>T (p.Thr554=) c.5163A>T (p.Thr1721=) c.1487A>T c.1674A>T (p.Thr558=) c.*4883A>T (n.*4883A>T) c.1413A>T (p.Thr471=) c.30A>T (p.Thr10=) c.573A>T (p.Thr191=) c.-98-13736A>T (n.-98-13736A>T) n.5236A>T n.5277A>T | ClinVar dbSNP |
17 | g.43063926T>C | CA003241 | BRCA1 | c.5097A>G (p.Thr1699=) c.5100A>G (p.Thr1700=) c.4974A>G (p.Thr1658=) c.5094A>G (p.Thr1698=) c.5022A>G (p.Thr1674=) c.1788A>G (p.Thr596=) c.1650A>G (p.Thr550=) c.4212A>G (p.Thr1404=) c.4977A>G (p.Thr1659=) c.5166A>G (p.Thr1722=) c.4959A>G (p.Thr1653=) c.1662A>G (p.Thr554=) c.5163A>G (p.Thr1721=) c.1487A>G c.1674A>G (p.Thr558=) c.*4883A>G (n.*4883A>G) c.1413A>G (p.Thr471=) c.30A>G (p.Thr10=) c.573A>G (p.Thr191=) c.-98-13736A>G (n.-98-13736A>G) n.5236A>G n.5277A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.43063926T>G | CA500146206 | BRCA1 | c.5097A>C (p.Thr1699=) c.5100A>C (p.Thr1700=) c.4974A>C (p.Thr1658=) c.5094A>C (p.Thr1698=) c.5022A>C (p.Thr1674=) c.1788A>C (p.Thr596=) c.1650A>C (p.Thr550=) c.4212A>C (p.Thr1404=) c.4977A>C (p.Thr1659=) c.5166A>C (p.Thr1722=) c.4959A>C (p.Thr1653=) c.1662A>C (p.Thr554=) c.5163A>C (p.Thr1721=) c.1487A>C c.1674A>C (p.Thr558=) c.*4883A>C (n.*4883A>C) c.1413A>C (p.Thr471=) c.30A>C (p.Thr10=) c.573A>C (p.Thr191=) c.-98-13736A>C (n.-98-13736A>C) n.5236A>C n.5277A>C | ClinVar dbSNP |
17 | g.43063926T= | CA2260769553 | BRCA1 | c.5097A= (p.Thr1699=) c.5100A= (p.Thr1700=) c.4974A= (p.Thr1658=) c.5094A= (p.Thr1698=) c.5022A= (p.Thr1674=) c.1788A= (p.Thr596=) c.1650A= (p.Thr550=) c.4212A= (p.Thr1404=) c.4977A= (p.Thr1659=) c.5166A= (p.Thr1722=) c.4959A= (p.Thr1653=) c.1662A= (p.Thr554=) c.5163A= (p.Thr1721=) c.1487A= c.1674A= (p.Thr558=) c.*4883A= (n.*4883A=) c.1413A= (p.Thr471=) c.30A= (p.Thr10=) c.573A= (p.Thr191=) c.-98-13736A= (n.-98-13736A=) n.5236A= n.5277A= | |
17 | g.43063927G>A | CA10591329 | BRCA1 | c.5096C>T (p.Thr1699Ile) c.5099C>T (p.Thr1700Ile) c.4973C>T (p.Thr1658Ile) c.5093C>T (p.Thr1698Ile) c.5021C>T (p.Thr1674Ile) c.1787C>T (p.Thr596Ile) c.1649C>T (p.Thr550Ile) c.4211C>T (p.Thr1404Ile) c.4976C>T (p.Thr1659Ile) c.5165C>T (p.Thr1722Ile) c.4958C>T (p.Thr1653Ile) c.1661C>T (p.Thr554Ile) c.5162C>T (p.Thr1721Ile) c.1486C>T c.1673C>T (p.Thr558Ile) c.*4882C>T (n.*4882C>T) c.1412C>T (p.Thr471Ile) c.29C>T (p.Thr10Ile) c.572C>T (p.Thr191Ile) c.-98-13737C>T (n.-98-13737C>T) n.5235C>T n.5276C>T | ClinVar dbSNP |
17 | g.43063927G>C | CA10591330 | BRCA1 | c.5096C>G (p.Thr1699Arg) c.5099C>G (p.Thr1700Arg) c.4973C>G (p.Thr1658Arg) c.5093C>G (p.Thr1698Arg) c.5021C>G (p.Thr1674Arg) c.1787C>G (p.Thr596Arg) c.1649C>G (p.Thr550Arg) c.4211C>G (p.Thr1404Arg) c.4976C>G (p.Thr1659Arg) c.5165C>G (p.Thr1722Arg) c.4958C>G (p.Thr1653Arg) c.1661C>G (p.Thr554Arg) c.5162C>G (p.Thr1721Arg) c.1486C>G c.1673C>G (p.Thr558Arg) c.*4882C>G (n.*4882C>G) c.1412C>G (p.Thr471Arg) c.29C>G (p.Thr10Arg) c.572C>G (p.Thr191Arg) c.-98-13737C>G (n.-98-13737C>G) n.5235C>G n.5276C>G | ClinVar dbSNP |
17 | g.43063927G= | CA2260769554 | BRCA1 | c.5096C= (p.Thr1699=) c.5099C= (p.Thr1700=) c.4973C= (p.Thr1658=) c.5093C= (p.Thr1698=) c.5021C= (p.Thr1674=) c.1787C= (p.Thr596=) c.1649C= (p.Thr550=) c.4211C= (p.Thr1404=) c.4976C= (p.Thr1659=) c.5165C= (p.Thr1722=) c.4958C= (p.Thr1653=) c.1661C= (p.Thr554=) c.5162C= (p.Thr1721=) c.1486C= c.1673C= (p.Thr558=) c.*4882C= (n.*4882C=) c.1412C= (p.Thr471=) c.29C= (p.Thr10=) c.572C= (p.Thr191=) c.-98-13737C= (n.-98-13737C=) n.5235C= n.5276C= | |
17 | g.43063927G>T | CA10591331 | BRCA1 | c.5096C>A (p.Thr1699Lys) c.5099C>A (p.Thr1700Lys) c.4973C>A (p.Thr1658Lys) c.5093C>A (p.Thr1698Lys) c.5021C>A (p.Thr1674Lys) c.1787C>A (p.Thr596Lys) c.1649C>A (p.Thr550Lys) c.4211C>A (p.Thr1404Lys) c.4976C>A (p.Thr1659Lys) c.5165C>A (p.Thr1722Lys) c.4958C>A (p.Thr1653Lys) c.1661C>A (p.Thr554Lys) c.5162C>A (p.Thr1721Lys) c.1486C>A c.1673C>A (p.Thr558Lys) c.*4882C>A (n.*4882C>A) c.1412C>A (p.Thr471Lys) c.29C>A (p.Thr10Lys) c.572C>A (p.Thr191Lys) c.-98-13737C>A (n.-98-13737C>A) n.5235C>A n.5276C>A | ClinVar dbSNP |
17 | g.43063927_43063928delinsGT | CA2260769555 | BRCA1 | c.5095_5096delinsAC (p.Thr1699=) c.5098_5099delinsAC (p.Thr1700=) c.4972_4973delinsAC (p.Thr1658=) c.5092_5093delinsAC (p.Thr1698=) c.5020_5021delinsAC (p.Thr1674=) c.1786_1787delinsAC (p.Thr596=) c.1648_1649delinsAC (p.Thr550=) c.4210_4211delinsAC (p.Thr1404=) c.4975_4976delinsAC (p.Thr1659=) c.5164_5165delinsAC (p.Thr1722=) c.4957_4958delinsAC (p.Thr1653=) c.1660_1661delinsAC (p.Thr554=) c.5161_5162delinsAC (p.Thr1721=) c.1485_1486delinsAC c.1672_1673delinsAC (p.Thr558=) c.*4881_*4882delinsAC (n.*4881_*4882delinsAC) c.1411_1412delinsAC (p.Thr471=) c.28_29delinsAC (p.Thr10=) c.571_572delinsAC (p.Thr191=) c.-98-13738_-98-13737delinsAC (n.-98-13738_-98-13737delinsAC) n.5234_5235delinsAC n.5275_5276delinsAC |