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 | ClinVar |
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.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.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.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.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.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.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 |