Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2088304_2088321delCA022197TSC2c.*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
16g.2088304_2088321dupCA620705069TSC2c.*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

Number of alleles fetched