Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.2088304_2088321del | CA022197 | TSC2 | c.*3587_*3604del (n.*3587_*3604del) c.5085_5102del (p.His1695_Arg1700del) c.5235_5252del (p.His1745_Arg1750del) c.*5751_*5768del (n.*5751_*5768del) c.*7987_*8004del (n.*7987_*8004del) c.5238_5255del (p.His1746_Arg1751del) c.5169_5186del (p.His1723_Arg1728del) c.5037_5054del (p.His1679_Arg1684del) c.5070_5087del (p.His1690_Arg1695del) c.1461_1478del n.3120_3137del c.3892_3909del c.5097_5114del (p.His1699_Arg1704del) n.835_852del c.5040_5057del (p.His1680_Arg1685del) c.5106_5123del (p.His1702_Arg1707del) c.5031_5048del (p.His1677_Arg1682del) n.2886_2903del c.5163_5180del (p.His1721_Arg1726del) c.5109_5126del (p.His1703_Arg1708del) c.5124_5141del (p.His1708_Arg1713del) c.5034_5051del (p.His1678_Arg1683del) c.5159_5176del n.3322_3339del c.5232_5249del (p.His1744_Arg1749del) n.4053_4070del n.2490_2507del n.2461_2478del n.2351_2368del c.4893_4910del (p.His1631_Arg1636del) c.*4405_*4422del (n.*4405_*4422del) c.4929_4946del (p.His1643_Arg1648del) n.2961_2978del c.1420_1437del n.2353_2370del c.5292_5309del (p.His1764_Arg1769del) c.5289_5306del (p.His1763_Arg1768del) c.5181_5198del (p.His1727_Arg1732del) c.5160_5177del (p.His1720_Arg1725del) c.4506_4523del (p.His1502_Arg1507del) c.5454_5471del (p.His1818_Arg1823del) c.5202_5219del (p.His1734_Arg1739del) c.3948_3965del (p.His1316_Arg1321del) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.2088304_2088321dup | CA620705069 | TSC2 | c.*3587_*3604dup (n.*3587_*3604dup) c.5085_5102dup (p.Arg1700_Gln1701insHisIleLysArgLeuArg) c.5235_5252dup (p.Arg1750_Gln1751insHisIleLysArgLeuArg) c.*5751_*5768dup (n.*5751_*5768dup) c.*7987_*8004dup (n.*7987_*8004dup) c.5238_5255dup (p.Arg1751_Gln1752insHisIleLysArgLeuArg) c.5169_5186dup (p.Arg1728_Gln1729insHisIleLysArgLeuArg) c.5037_5054dup (p.Arg1684_Gln1685insHisIleLysArgLeuArg) c.5070_5087dup (p.Arg1695_Gln1696insHisIleLysArgLeuArg) c.1461_1478dup n.3120_3137dup c.3892_3909dup c.5097_5114dup (p.Arg1704_Gln1705insHisIleLysArgLeuArg) n.835_852dup c.5040_5057dup (p.Arg1685_Gln1686insHisIleLysArgLeuArg) c.5106_5123dup (p.Arg1707_Gln1708insHisIleLysArgLeuArg) c.5031_5048dup (p.Arg1682_Gln1683insHisIleLysArgLeuArg) n.2886_2903dup c.5163_5180dup (p.Arg1726_Gln1727insHisIleLysArgLeuArg) c.5109_5126dup (p.Arg1708_Gln1709insHisIleLysArgLeuArg) c.5124_5141dup (p.Arg1713_Gln1714insHisIleLysArgLeuArg) c.5034_5051dup (p.Arg1683_Gln1684insHisIleLysArgLeuArg) c.5159_5176dup n.3322_3339dup c.5232_5249dup (p.Arg1749_Gln1750insHisIleLysArgLeuArg) n.4053_4070dup n.2490_2507dup n.2461_2478dup n.2351_2368dup c.4893_4910dup (p.Arg1636_Gln1637insHisIleLysArgLeuArg) c.*4405_*4422dup (n.*4405_*4422dup) c.4929_4946dup (p.Arg1648_Gln1649insHisIleLysArgLeuArg) n.2961_2978dup c.1420_1437dup n.2353_2370dup c.5292_5309dup (p.Arg1769_Gln1770insHisIleLysArgLeuArg) c.5289_5306dup (p.Arg1768_Gln1769insHisIleLysArgLeuArg) c.5181_5198dup (p.Arg1732_Gln1733insHisIleLysArgLeuArg) c.5160_5177dup (p.Arg1725_Gln1726insHisIleLysArgLeuArg) c.4506_4523dup (p.Arg1507_Gln1508insHisIleLysArgLeuArg) c.5454_5471dup (p.Arg1823_Gln1824insHisIleLysArgLeuArg) c.5202_5219dup (p.Arg1739_Gln1740insHisIleLysArgLeuArg) c.3948_3965dup (p.Arg1321_Gln1322insHisIleLysArgLeuArg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |