| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2088110_2088122delinsGTGGCCCGCCAGA | CA2202030634 | TSC2 | c.*3480_*3492delinsGTGGCCCGCCAGA (n.*3480_*3492delinsGTGGCCCGCCAGA) c.4978_4990delinsGTGGCCCGCCAGA (p.Val1660=) c.5128_5140delinsGTGGCCCGCCAGA (p.Val1710=) c.*5644_*5656delinsGTGGCCCGCCAGA (n.*5644_*5656delinsGTGGCCCGCCAGA) c.*7880_*7892delinsGTGGCCCGCCAGA (n.*7880_*7892delinsGTGGCCCGCCAGA) c.5131_5143delinsGTGGCCCGCCAGA (p.Val1711=) c.5062_5074delinsGTGGCCCGCCAGA (p.Val1688=) c.4930_4942delinsGTGGCCCGCCAGA (p.Val1644=) c.4963_4975delinsGTGGCCCGCCAGA (p.Val1655=) c.1354_1366delinsGTGGCCCGCCAGA n.3013_3025delinsGTGGCCCGCCAGA c.3785_3797delinsGTGGCCCGCCAGA c.5002_5014delinsGTGGCCCGCCAGA (p.Val1668=) n.728_740delinsGTGGCCCGCCAGA c.4933_4945delinsGTGGCCCGCCAGA (p.Val1645=) c.4999_5011delinsGTGGCCCGCCAGA (p.Val1667=) c.4924_4936delinsGTGGCCCGCCAGA (p.Val1642=) n.2779_2791delinsGTGGCCCGCCAGA c.5056_5068delinsGTGGCCCGCCAGA (p.Val1686=) c.4927_4939delinsGTGGCCCGCCAGA (p.Val1643=) c.5052_5064delinsGTGGCCCGCCAGA n.3215_3227delinsGTGGCCCGCCAGA c.5125_5137delinsGTGGCCCGCCAGA (p.Val1709=) n.3946_3958delinsGTGGCCCGCCAGA n.2383_2395delinsGTGGCCCGCCAGA n.2354_2366delinsGTGGCCCGCCAGA n.2244_2256delinsGTGGCCCGCCAGA c.4786_4798delinsGTGGCCCGCCAGA (p.Val1596=) c.*4298_*4310delinsGTGGCCCGCCAGA (n.*4298_*4310delinsGTGGCCCGCCAGA) c.4822_4834delinsGTGGCCCGCCAGA (p.Val1608=) n.2854_2866delinsGTGGCCCGCCAGA c.1313_1325delinsGTGGCCCGCCAGA n.2246_2258delinsGTGGCCCGCCAGA c.5185_5197delinsGTGGCCCGCCAGA (p.Val1729=) c.5182_5194delinsGTGGCCCGCCAGA (p.Val1728=) c.5074_5086delinsGTGGCCCGCCAGA (p.Val1692=) c.5053_5065delinsGTGGCCCGCCAGA (p.Val1685=) c.4399_4411delinsGTGGCCCGCCAGA (p.Val1467=) c.5347_5359delinsGTGGCCCGCCAGA (p.Val1783=) c.5095_5107delinsGTGGCCCGCCAGA (p.Val1699=) c.3841_3853delinsGTGGCCCGCCAGA (p.Val1281=) | |
| 16 | g.2088117_2088128del | CA16620104 | TSC2 | c.*3487_*3498del (n.*3487_*3498del) c.4985_4996del (p.Arg1662_Ala1665del) c.5135_5146del (p.Arg1712_Ala1715del) c.*5651_*5662del (n.*5651_*5662del) c.*7887_*7898del (n.*7887_*7898del) c.5138_5149del (p.Arg1713_Ala1716del) c.5069_5080del (p.Arg1690_Ala1693del) c.4937_4948del (p.Arg1646_Ala1649del) c.4970_4981del (p.Arg1657_Ala1660del) c.1361_1372del n.3020_3031del c.3792_3803del c.5009_5020del (p.Arg1670_Ala1673del) n.735_746del c.4940_4951del (p.Arg1647_Ala1650del) c.5006_5017del (p.Arg1669_Ala1672del) c.4931_4942del (p.Arg1644_Ala1647del) n.2786_2797del c.5063_5074del (p.Arg1688_Ala1691del) c.4934_4945del (p.Arg1645_Ala1648del) c.5059_5070del n.3222_3233del c.5132_5143del (p.Arg1711_Ala1714del) n.3953_3964del n.2390_2401del n.2361_2372del n.2251_2262del c.4793_4804del (p.Arg1598_Ala1601del) c.*4305_*4316del (n.*4305_*4316del) c.4829_4840del (p.Arg1610_Ala1613del) n.2861_2872del c.1320_1331del n.2253_2264del c.5192_5203del (p.Arg1731_Ala1734del) c.5189_5200del (p.Arg1730_Ala1733del) c.5081_5092del (p.Arg1694_Ala1697del) c.5060_5071del (p.Arg1687_Ala1690del) c.4406_4417del (p.Arg1469_Ala1472del) c.5354_5365del (p.Arg1785_Ala1788del) c.5102_5113del (p.Arg1701_Ala1704del) c.3848_3859del (p.Arg1283_Ala1286del) | ClinVar dbSNP |
| 16 | g.2088117G>A | CA021840 | TSC2 | c.*3487G>A (n.*3487G>A) c.4985G>A (p.Arg1662His) c.5135G>A (p.Arg1712His) c.*5651G>A (n.*5651G>A) c.*7887G>A (n.*7887G>A) c.5138G>A (p.Arg1713His) c.5069G>A (p.Arg1690His) c.4937G>A (p.Arg1646His) c.4970G>A (p.Arg1657His) c.1361G>A n.3020G>A c.3792G>A c.5009G>A (p.Arg1670His) n.735G>A c.4940G>A (p.Arg1647His) c.5006G>A (p.Arg1669His) c.4931G>A (p.Arg1644His) n.2786G>A c.5063G>A (p.Arg1688His) c.4934G>A (p.Arg1645His) c.5059G>A n.3222G>A c.5132G>A (p.Arg1711His) n.3953G>A n.2390G>A n.2361G>A n.2251G>A c.4793G>A (p.Arg1598His) c.*4305G>A (n.*4305G>A) c.4829G>A (p.Arg1610His) n.2861G>A c.1320G>A n.2253G>A c.5192G>A (p.Arg1731His) c.5189G>A (p.Arg1730His) c.5081G>A (p.Arg1694His) c.5060G>A (p.Arg1687His) c.4406G>A (p.Arg1469His) c.5354G>A (p.Arg1785His) c.5102G>A (p.Arg1701His) c.3848G>A (p.Arg1283His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.2088117G>C | CA021846 | TSC2 | c.*3487G>C (n.*3487G>C) c.4985G>C (p.Arg1662Pro) c.5135G>C (p.Arg1712Pro) c.*5651G>C (n.*5651G>C) c.*7887G>C (n.*7887G>C) c.5138G>C (p.Arg1713Pro) c.5069G>C (p.Arg1690Pro) c.4937G>C (p.Arg1646Pro) c.4970G>C (p.Arg1657Pro) c.1361G>C n.3020G>C c.3792G>C c.5009G>C (p.Arg1670Pro) n.735G>C c.4940G>C (p.Arg1647Pro) c.5006G>C (p.Arg1669Pro) c.4931G>C (p.Arg1644Pro) n.2786G>C c.5063G>C (p.Arg1688Pro) c.4934G>C (p.Arg1645Pro) c.5059G>C n.3222G>C c.5132G>C (p.Arg1711Pro) n.3953G>C n.2390G>C n.2361G>C n.2251G>C c.4793G>C (p.Arg1598Pro) c.*4305G>C (n.*4305G>C) c.4829G>C (p.Arg1610Pro) n.2861G>C c.1320G>C n.2253G>C c.5192G>C (p.Arg1731Pro) c.5189G>C (p.Arg1730Pro) c.5081G>C (p.Arg1694Pro) c.5060G>C (p.Arg1687Pro) c.4406G>C (p.Arg1469Pro) c.5354G>C (p.Arg1785Pro) c.5102G>C (p.Arg1701Pro) c.3848G>C (p.Arg1283Pro) | ClinVar dbSNP |
| 16 | g.2088117G= | CA2202030712 | TSC2 | c.*3487G= (n.*3487G=) c.4985G= (p.Arg1662=) c.5135G= (p.Arg1712=) c.*5651G= (n.*5651G=) c.*7887G= (n.*7887G=) c.5138G= (p.Arg1713=) c.5069G= (p.Arg1690=) c.4937G= (p.Arg1646=) c.4970G= (p.Arg1657=) c.1361G= n.3020G= c.3792G= c.5009G= (p.Arg1670=) n.735G= c.4940G= (p.Arg1647=) c.5006G= (p.Arg1669=) c.4931G= (p.Arg1644=) n.2786G= c.5063G= (p.Arg1688=) c.4934G= (p.Arg1645=) c.5059G= n.3222G= c.5132G= (p.Arg1711=) n.3953G= n.2390G= n.2361G= n.2251G= c.4793G= (p.Arg1598=) c.*4305G= (n.*4305G=) c.4829G= (p.Arg1610=) n.2861G= c.1320G= n.2253G= c.5192G= (p.Arg1731=) c.5189G= (p.Arg1730=) c.5081G= (p.Arg1694=) c.5060G= (p.Arg1687=) c.4406G= (p.Arg1469=) c.5354G= (p.Arg1785=) c.5102G= (p.Arg1701=) c.3848G= (p.Arg1283=) | |
| 16 | g.2088117G>T | CA394312517 | TSC2 | c.*3487G>T (n.*3487G>T) c.4985G>T (p.Arg1662Leu) c.5135G>T (p.Arg1712Leu) c.*5651G>T (n.*5651G>T) c.*7887G>T (n.*7887G>T) c.5138G>T (p.Arg1713Leu) c.5069G>T (p.Arg1690Leu) c.4937G>T (p.Arg1646Leu) c.4970G>T (p.Arg1657Leu) c.1361G>T n.3020G>T c.3792G>T c.5009G>T (p.Arg1670Leu) n.735G>T c.4940G>T (p.Arg1647Leu) c.5006G>T (p.Arg1669Leu) c.4931G>T (p.Arg1644Leu) n.2786G>T c.5063G>T (p.Arg1688Leu) c.4934G>T (p.Arg1645Leu) c.5059G>T n.3222G>T c.5132G>T (p.Arg1711Leu) n.3953G>T n.2390G>T n.2361G>T n.2251G>T c.4793G>T (p.Arg1598Leu) c.*4305G>T (n.*4305G>T) c.4829G>T (p.Arg1610Leu) n.2861G>T c.1320G>T n.2253G>T c.5192G>T (p.Arg1731Leu) c.5189G>T (p.Arg1730Leu) c.5081G>T (p.Arg1694Leu) c.5060G>T (p.Arg1687Leu) c.4406G>T (p.Arg1469Leu) c.5354G>T (p.Arg1785Leu) c.5102G>T (p.Arg1701Leu) c.3848G>T (p.Arg1283Leu) | |
| 16 | g.2088117_2088118delinsGC | CA2202030716 | TSC2 | c.*3487_*3488delinsGC (n.*3487_*3488delinsGC) c.4985_4986delinsGC (p.Arg1662=) c.5135_5136delinsGC (p.Arg1712=) c.*5651_*5652delinsGC (n.*5651_*5652delinsGC) c.*7887_*7888delinsGC (n.*7887_*7888delinsGC) c.5138_5139delinsGC (p.Arg1713=) c.5069_5070delinsGC (p.Arg1690=) c.4937_4938delinsGC (p.Arg1646=) c.4970_4971delinsGC (p.Arg1657=) c.1361_1362delinsGC n.3020_3021delinsGC c.3792_3793delinsGC c.5009_5010delinsGC (p.Arg1670=) n.735_736delinsGC c.4940_4941delinsGC (p.Arg1647=) c.5006_5007delinsGC (p.Arg1669=) c.4931_4932delinsGC (p.Arg1644=) n.2786_2787delinsGC c.5063_5064delinsGC (p.Arg1688=) c.4934_4935delinsGC (p.Arg1645=) c.5059_5060delinsGC n.3222_3223delinsGC c.5132_5133delinsGC (p.Arg1711=) n.3953_3954delinsGC n.2390_2391delinsGC n.2361_2362delinsGC n.2251_2252delinsGC c.4793_4794delinsGC (p.Arg1598=) c.*4305_*4306delinsGC (n.*4305_*4306delinsGC) c.4829_4830delinsGC (p.Arg1610=) n.2861_2862delinsGC c.1320_1321delinsGC n.2253_2254delinsGC c.5192_5193delinsGC (p.Arg1731=) c.5189_5190delinsGC (p.Arg1730=) c.5081_5082delinsGC (p.Arg1694=) c.5060_5061delinsGC (p.Arg1687=) c.4406_4407delinsGC (p.Arg1469=) c.5354_5355delinsGC (p.Arg1785=) c.5102_5103delinsGC (p.Arg1701=) c.3848_3849delinsGC (p.Arg1283=) | |
| 16 | g.2088118C>A | CA276759019 | TSC2 | c.*3488C>A (n.*3488C>A) c.4986C>A (p.Arg1662=) c.5136C>A (p.Arg1712=) c.*5652C>A (n.*5652C>A) c.*7888C>A (n.*7888C>A) c.5139C>A (p.Arg1713=) c.5070C>A (p.Arg1690=) c.4938C>A (p.Arg1646=) c.4971C>A (p.Arg1657=) c.1362C>A n.3021C>A c.3793C>A c.5010C>A (p.Arg1670=) n.736C>A c.4941C>A (p.Arg1647=) c.5007C>A (p.Arg1669=) c.4932C>A (p.Arg1644=) n.2787C>A c.5064C>A (p.Arg1688=) c.4935C>A (p.Arg1645=) c.5060C>A n.3223C>A c.5133C>A (p.Arg1711=) n.3954C>A n.2391C>A n.2362C>A n.2252C>A c.4794C>A (p.Arg1598=) c.*4306C>A (n.*4306C>A) c.4830C>A (p.Arg1610=) n.2862C>A c.1321C>A n.2254C>A c.5193C>A (p.Arg1731=) c.5190C>A (p.Arg1730=) c.5082C>A (p.Arg1694=) c.5061C>A (p.Arg1687=) c.4407C>A (p.Arg1469=) c.5355C>A (p.Arg1785=) c.5103C>A (p.Arg1701=) c.3849C>A (p.Arg1283=) | ClinVar dbSNP |
| 16 | g.2088118C= | CA2202030734 | TSC2 | c.*3488C= (n.*3488C=) c.4986C= (p.Arg1662=) c.5136C= (p.Arg1712=) c.*5652C= (n.*5652C=) c.*7888C= (n.*7888C=) c.5139C= (p.Arg1713=) c.5070C= (p.Arg1690=) c.4938C= (p.Arg1646=) c.4971C= (p.Arg1657=) c.1362C= n.3021C= c.3793C= c.5010C= (p.Arg1670=) n.736C= c.4941C= (p.Arg1647=) c.5007C= (p.Arg1669=) c.4932C= (p.Arg1644=) n.2787C= c.5064C= (p.Arg1688=) c.4935C= (p.Arg1645=) c.5060C= n.3223C= c.5133C= (p.Arg1711=) n.3954C= n.2391C= n.2362C= n.2252C= c.4794C= (p.Arg1598=) c.*4306C= (n.*4306C=) c.4830C= (p.Arg1610=) n.2862C= c.1321C= n.2254C= c.5193C= (p.Arg1731=) c.5190C= (p.Arg1730=) c.5082C= (p.Arg1694=) c.5061C= (p.Arg1687=) c.4407C= (p.Arg1469=) c.5355C= (p.Arg1785=) c.5103C= (p.Arg1701=) c.3849C= (p.Arg1283=) | |
| 16 | g.2088118C>G | CA493043684 | TSC2 | c.*3488C>G (n.*3488C>G) c.4986C>G (p.Arg1662=) c.5136C>G (p.Arg1712=) c.*5652C>G (n.*5652C>G) c.*7888C>G (n.*7888C>G) c.5139C>G (p.Arg1713=) c.5070C>G (p.Arg1690=) c.4938C>G (p.Arg1646=) c.4971C>G (p.Arg1657=) c.1362C>G n.3021C>G c.3793C>G c.5010C>G (p.Arg1670=) n.736C>G c.4941C>G (p.Arg1647=) c.5007C>G (p.Arg1669=) c.4932C>G (p.Arg1644=) n.2787C>G c.5064C>G (p.Arg1688=) c.4935C>G (p.Arg1645=) c.5060C>G n.3223C>G c.5133C>G (p.Arg1711=) n.3954C>G n.2391C>G n.2362C>G n.2252C>G c.4794C>G (p.Arg1598=) c.*4306C>G (n.*4306C>G) c.4830C>G (p.Arg1610=) n.2862C>G c.1321C>G n.2254C>G c.5193C>G (p.Arg1731=) c.5190C>G (p.Arg1730=) c.5082C>G (p.Arg1694=) c.5061C>G (p.Arg1687=) c.4407C>G (p.Arg1469=) c.5355C>G (p.Arg1785=) c.5103C>G (p.Arg1701=) c.3849C>G (p.Arg1283=) | |
| 16 | g.2088118C>T | CA054043 | TSC2 | c.*3488C>T (n.*3488C>T) c.4986C>T (p.Arg1662=) c.5136C>T (p.Arg1712=) c.*5652C>T (n.*5652C>T) c.*7888C>T (n.*7888C>T) c.5139C>T (p.Arg1713=) c.5070C>T (p.Arg1690=) c.4938C>T (p.Arg1646=) c.4971C>T (p.Arg1657=) c.1362C>T n.3021C>T c.3793C>T c.5010C>T (p.Arg1670=) n.736C>T c.4941C>T (p.Arg1647=) c.5007C>T (p.Arg1669=) c.4932C>T (p.Arg1644=) n.2787C>T c.5064C>T (p.Arg1688=) c.4935C>T (p.Arg1645=) c.5060C>T n.3223C>T c.5133C>T (p.Arg1711=) n.3954C>T n.2391C>T n.2362C>T n.2252C>T c.4794C>T (p.Arg1598=) c.*4306C>T (n.*4306C>T) c.4830C>T (p.Arg1610=) n.2862C>T c.1321C>T n.2254C>T c.5193C>T (p.Arg1731=) c.5190C>T (p.Arg1730=) c.5082C>T (p.Arg1694=) c.5061C>T (p.Arg1687=) c.4407C>T (p.Arg1469=) c.5355C>T (p.Arg1785=) c.5103C>T (p.Arg1701=) c.3849C>T (p.Arg1283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088119del | CA10583343 | TSC2 | c.*3489del (n.*3489del) c.4987del (p.Gln1663ArgfsTer?) c.5137del (p.Gln1713ArgfsTer?) c.*5653del (n.*5653del) c.*7889del (n.*7889del) c.5140del (p.Gln1714ArgfsTer?) c.5071del (p.Gln1691ArgfsTer?) c.4939del (p.Gln1647ArgfsTer?) c.4972del (p.Gln1658ArgfsTer?) c.1363del n.3022del c.3794del c.5011del (p.Gln1671ArgfsTer?) n.737del c.4942del (p.Gln1648ArgfsTer?) c.5008del (p.Gln1670ArgfsTer?) c.4933del (p.Gln1645ArgfsTer?) n.2788del c.5065del (p.Gln1689ArgfsTer?) c.4939del (p.Gln1647ArgfsTer8) c.4936del (p.Gln1646ArgfsTer?) c.5061del n.3224del c.5134del (p.Gln1712ArgfsTer?) n.3955del n.2392del n.2363del n.2253del c.4795del (p.Gln1599ArgfsTer?) c.*4307del (n.*4307del) c.4831del (p.Gln1611ArgfsTer?) n.2863del c.1322del n.2255del c.5194del (p.Gln1732ArgfsTer?) c.5191del (p.Gln1731ArgfsTer?) c.5083del (p.Gln1695ArgfsTer?) c.5062del (p.Gln1688ArgfsTer?) c.4408del (p.Gln1470ArgfsTer?) c.5356del (p.Gln1786ArgfsTer?) c.5104del (p.Gln1702ArgfsTer?) c.3850del (p.Gln1284ArgfsTer?) | ClinVar dbSNP |
| 16 | g.2088119C>A | CA394312532 | TSC2 | c.*3489C>A (n.*3489C>A) c.4987C>A (p.Gln1663Lys) c.5137C>A (p.Gln1713Lys) c.*5653C>A (n.*5653C>A) c.*7889C>A (n.*7889C>A) c.5140C>A (p.Gln1714Lys) c.5071C>A (p.Gln1691Lys) c.4939C>A (p.Gln1647Lys) c.4972C>A (p.Gln1658Lys) c.1363C>A n.3022C>A c.3794C>A c.5011C>A (p.Gln1671Lys) n.737C>A c.4942C>A (p.Gln1648Lys) c.5008C>A (p.Gln1670Lys) c.4933C>A (p.Gln1645Lys) n.2788C>A c.5065C>A (p.Gln1689Lys) c.4936C>A (p.Gln1646Lys) c.5061C>A n.3224C>A c.5134C>A (p.Gln1712Lys) n.3955C>A n.2392C>A n.2363C>A n.2253C>A c.4795C>A (p.Gln1599Lys) c.*4307C>A (n.*4307C>A) c.4831C>A (p.Gln1611Lys) n.2863C>A c.1322C>A n.2255C>A c.5194C>A (p.Gln1732Lys) c.5191C>A (p.Gln1731Lys) c.5083C>A (p.Gln1695Lys) c.5062C>A (p.Gln1688Lys) c.4408C>A (p.Gln1470Lys) c.5356C>A (p.Gln1786Lys) c.5104C>A (p.Gln1702Lys) c.3850C>A (p.Gln1284Lys) | dbSNP |
| 16 | g.2088119C= | CA2202030741 | TSC2 | c.*3489C= (n.*3489C=) c.4987C= (p.Gln1663=) c.5137C= (p.Gln1713=) c.*5653C= (n.*5653C=) c.*7889C= (n.*7889C=) c.5140C= (p.Gln1714=) c.5071C= (p.Gln1691=) c.4939C= (p.Gln1647=) c.4972C= (p.Gln1658=) c.1363C= n.3022C= c.3794C= c.5011C= (p.Gln1671=) n.737C= c.4942C= (p.Gln1648=) c.5008C= (p.Gln1670=) c.4933C= (p.Gln1645=) n.2788C= c.5065C= (p.Gln1689=) c.4936C= (p.Gln1646=) c.5061C= n.3224C= c.5134C= (p.Gln1712=) n.3955C= n.2392C= n.2363C= n.2253C= c.4795C= (p.Gln1599=) c.*4307C= (n.*4307C=) c.4831C= (p.Gln1611=) n.2863C= c.1322C= n.2255C= c.5194C= (p.Gln1732=) c.5191C= (p.Gln1731=) c.5083C= (p.Gln1695=) c.5062C= (p.Gln1688=) c.4408C= (p.Gln1470=) c.5356C= (p.Gln1786=) c.5104C= (p.Gln1702=) c.3850C= (p.Gln1284=) | |
| 16 | g.2088119C>G | CA394312536 | TSC2 | c.*3489C>G (n.*3489C>G) c.4987C>G (p.Gln1663Glu) c.5137C>G (p.Gln1713Glu) c.*5653C>G (n.*5653C>G) c.*7889C>G (n.*7889C>G) c.5140C>G (p.Gln1714Glu) c.5071C>G (p.Gln1691Glu) c.4939C>G (p.Gln1647Glu) c.4972C>G (p.Gln1658Glu) c.1363C>G n.3022C>G c.3794C>G c.5011C>G (p.Gln1671Glu) n.737C>G c.4942C>G (p.Gln1648Glu) c.5008C>G (p.Gln1670Glu) c.4933C>G (p.Gln1645Glu) n.2788C>G c.5065C>G (p.Gln1689Glu) c.4936C>G (p.Gln1646Glu) c.5061C>G n.3224C>G c.5134C>G (p.Gln1712Glu) n.3955C>G n.2392C>G n.2363C>G n.2253C>G c.4795C>G (p.Gln1599Glu) c.*4307C>G (n.*4307C>G) c.4831C>G (p.Gln1611Glu) n.2863C>G c.1322C>G n.2255C>G c.5194C>G (p.Gln1732Glu) c.5191C>G (p.Gln1731Glu) c.5083C>G (p.Gln1695Glu) c.5062C>G (p.Gln1688Glu) c.4408C>G (p.Gln1470Glu) c.5356C>G (p.Gln1786Glu) c.5104C>G (p.Gln1702Glu) c.3850C>G (p.Gln1284Glu) | dbSNP |
| 16 | g.2088119C>T | CA021852 | TSC2 | c.*3489C>T (n.*3489C>T) c.4987C>T (p.Gln1663Ter) c.5137C>T (p.Gln1713Ter) c.*5653C>T (n.*5653C>T) c.*7889C>T (n.*7889C>T) c.5140C>T (p.Gln1714Ter) c.5071C>T (p.Gln1691Ter) c.4939C>T (p.Gln1647Ter) c.4972C>T (p.Gln1658Ter) c.1363C>T n.3022C>T c.3794C>T c.5011C>T (p.Gln1671Ter) n.737C>T c.4942C>T (p.Gln1648Ter) c.5008C>T (p.Gln1670Ter) c.4933C>T (p.Gln1645Ter) n.2788C>T c.5065C>T (p.Gln1689Ter) c.4936C>T (p.Gln1646Ter) c.5061C>T n.3224C>T c.5134C>T (p.Gln1712Ter) n.3955C>T n.2392C>T n.2363C>T n.2253C>T c.4795C>T (p.Gln1599Ter) c.*4307C>T (n.*4307C>T) c.4831C>T (p.Gln1611Ter) n.2863C>T c.1322C>T n.2255C>T c.5194C>T (p.Gln1732Ter) c.5191C>T (p.Gln1731Ter) c.5083C>T (p.Gln1695Ter) c.5062C>T (p.Gln1688Ter) c.4408C>T (p.Gln1470Ter) c.5356C>T (p.Gln1786Ter) c.5104C>T (p.Gln1702Ter) c.3850C>T (p.Gln1284Ter) | ClinVar dbSNP |
| 16 | g.2088120A>C | CA394312547 | TSC2 | c.*3490A>C (n.*3490A>C) c.4988A>C (p.Gln1663Pro) c.5138A>C (p.Gln1713Pro) c.*5654A>C (n.*5654A>C) c.*7890A>C (n.*7890A>C) c.5141A>C (p.Gln1714Pro) c.5072A>C (p.Gln1691Pro) c.4940A>C (p.Gln1647Pro) c.4973A>C (p.Gln1658Pro) c.1364A>C n.3023A>C c.3795A>C c.5012A>C (p.Gln1671Pro) n.738A>C c.4943A>C (p.Gln1648Pro) c.5009A>C (p.Gln1670Pro) c.4934A>C (p.Gln1645Pro) n.2789A>C c.5066A>C (p.Gln1689Pro) c.4937A>C (p.Gln1646Pro) c.5062A>C n.3225A>C c.5135A>C (p.Gln1712Pro) n.3956A>C n.2393A>C n.2364A>C n.2254A>C c.4796A>C (p.Gln1599Pro) c.*4308A>C (n.*4308A>C) c.4832A>C (p.Gln1611Pro) n.2864A>C c.1323A>C n.2256A>C c.5195A>C (p.Gln1732Pro) c.5192A>C (p.Gln1731Pro) c.5084A>C (p.Gln1695Pro) c.5063A>C (p.Gln1688Pro) c.4409A>C (p.Gln1470Pro) c.5357A>C (p.Gln1786Pro) c.5105A>C (p.Gln1702Pro) c.3851A>C (p.Gln1284Pro) | |
| 16 | g.2088120A>G | CA394312541 | TSC2 | c.*3490A>G (n.*3490A>G) c.4988A>G (p.Gln1663Arg) c.5138A>G (p.Gln1713Arg) c.*5654A>G (n.*5654A>G) c.*7890A>G (n.*7890A>G) c.5141A>G (p.Gln1714Arg) c.5072A>G (p.Gln1691Arg) c.4940A>G (p.Gln1647Arg) c.4973A>G (p.Gln1658Arg) c.1364A>G n.3023A>G c.3795A>G c.5012A>G (p.Gln1671Arg) n.738A>G c.4943A>G (p.Gln1648Arg) c.5009A>G (p.Gln1670Arg) c.4934A>G (p.Gln1645Arg) n.2789A>G c.5066A>G (p.Gln1689Arg) c.4937A>G (p.Gln1646Arg) c.5062A>G n.3225A>G c.5135A>G (p.Gln1712Arg) n.3956A>G n.2393A>G n.2364A>G n.2254A>G c.4796A>G (p.Gln1599Arg) c.*4308A>G (n.*4308A>G) c.4832A>G (p.Gln1611Arg) n.2864A>G c.1323A>G n.2256A>G c.5195A>G (p.Gln1732Arg) c.5192A>G (p.Gln1731Arg) c.5084A>G (p.Gln1695Arg) c.5063A>G (p.Gln1688Arg) c.4409A>G (p.Gln1470Arg) c.5357A>G (p.Gln1786Arg) c.5105A>G (p.Gln1702Arg) c.3851A>G (p.Gln1284Arg) | ClinVar dbSNP COSMIC COSMIC |
| 16 | g.2088120A>T | CA394312543 | TSC2 | c.*3490A>T (n.*3490A>T) c.4988A>T (p.Gln1663Leu) c.5138A>T (p.Gln1713Leu) c.*5654A>T (n.*5654A>T) c.*7890A>T (n.*7890A>T) c.5141A>T (p.Gln1714Leu) c.5072A>T (p.Gln1691Leu) c.4940A>T (p.Gln1647Leu) c.4973A>T (p.Gln1658Leu) c.1364A>T n.3023A>T c.3795A>T c.5012A>T (p.Gln1671Leu) n.738A>T c.4943A>T (p.Gln1648Leu) c.5009A>T (p.Gln1670Leu) c.4934A>T (p.Gln1645Leu) n.2789A>T c.5066A>T (p.Gln1689Leu) c.4937A>T (p.Gln1646Leu) c.5062A>T n.3225A>T c.5135A>T (p.Gln1712Leu) n.3956A>T n.2393A>T n.2364A>T n.2254A>T c.4796A>T (p.Gln1599Leu) c.*4308A>T (n.*4308A>T) c.4832A>T (p.Gln1611Leu) n.2864A>T c.1323A>T n.2256A>T c.5195A>T (p.Gln1732Leu) c.5192A>T (p.Gln1731Leu) c.5084A>T (p.Gln1695Leu) c.5063A>T (p.Gln1688Leu) c.4409A>T (p.Gln1470Leu) c.5357A>T (p.Gln1786Leu) c.5105A>T (p.Gln1702Leu) c.3851A>T (p.Gln1284Leu) | dbSNP gnomAD v4 |
| 16 | g.2088121G>A | CA054054 | TSC2 | c.*3491G>A (n.*3491G>A) c.4989G>A (p.Gln1663=) c.5139G>A (p.Gln1713=) c.*5655G>A (n.*5655G>A) c.*7891G>A (n.*7891G>A) c.5142G>A (p.Gln1714=) c.5073G>A (p.Gln1691=) c.4941G>A (p.Gln1647=) c.4974G>A (p.Gln1658=) c.1365G>A n.3024G>A c.3796G>A c.5013G>A (p.Gln1671=) n.739G>A c.4944G>A (p.Gln1648=) c.5010G>A (p.Gln1670=) c.4935G>A (p.Gln1645=) n.2790G>A c.5067G>A (p.Gln1689=) c.4938G>A (p.Gln1646=) c.5063G>A n.3226G>A c.5136G>A (p.Gln1712=) n.3957G>A n.2394G>A n.2365G>A n.2255G>A c.4797G>A (p.Gln1599=) c.*4309G>A (n.*4309G>A) c.4833G>A (p.Gln1611=) n.2865G>A c.1324G>A n.2257G>A c.5196G>A (p.Gln1732=) c.5193G>A (p.Gln1731=) c.5085G>A (p.Gln1695=) c.5064G>A (p.Gln1688=) c.4410G>A (p.Gln1470=) c.5358G>A (p.Gln1786=) c.5106G>A (p.Gln1702=) c.3852G>A (p.Gln1284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088121G>C | CA394312551 | TSC2 | c.*3491G>C (n.*3491G>C) c.4989G>C (p.Gln1663His) c.5139G>C (p.Gln1713His) c.*5655G>C (n.*5655G>C) c.*7891G>C (n.*7891G>C) c.5142G>C (p.Gln1714His) c.5073G>C (p.Gln1691His) c.4941G>C (p.Gln1647His) c.4974G>C (p.Gln1658His) c.1365G>C n.3024G>C c.3796G>C c.5013G>C (p.Gln1671His) n.739G>C c.4944G>C (p.Gln1648His) c.5010G>C (p.Gln1670His) c.4935G>C (p.Gln1645His) n.2790G>C c.5067G>C (p.Gln1689His) c.4938G>C (p.Gln1646His) c.5063G>C n.3226G>C c.5136G>C (p.Gln1712His) n.3957G>C n.2394G>C n.2365G>C n.2255G>C c.4797G>C (p.Gln1599His) c.*4309G>C (n.*4309G>C) c.4833G>C (p.Gln1611His) n.2865G>C c.1324G>C n.2257G>C c.5196G>C (p.Gln1732His) c.5193G>C (p.Gln1731His) c.5085G>C (p.Gln1695His) c.5064G>C (p.Gln1688His) c.4410G>C (p.Gln1470His) c.5358G>C (p.Gln1786His) c.5106G>C (p.Gln1702His) c.3852G>C (p.Gln1284His) | dbSNP |
| 16 | g.2088121G= | CA2202030748 | TSC2 | c.*3491G= (n.*3491G=) c.4989G= (p.Gln1663=) c.5139G= (p.Gln1713=) c.*5655G= (n.*5655G=) c.*7891G= (n.*7891G=) c.5142G= (p.Gln1714=) c.5073G= (p.Gln1691=) c.4941G= (p.Gln1647=) c.4974G= (p.Gln1658=) c.1365G= n.3024G= c.3796G= c.5013G= (p.Gln1671=) n.739G= c.4944G= (p.Gln1648=) c.5010G= (p.Gln1670=) c.4935G= (p.Gln1645=) n.2790G= c.5067G= (p.Gln1689=) c.4938G= (p.Gln1646=) c.5063G= n.3226G= c.5136G= (p.Gln1712=) n.3957G= n.2394G= n.2365G= n.2255G= c.4797G= (p.Gln1599=) c.*4309G= (n.*4309G=) c.4833G= (p.Gln1611=) n.2865G= c.1324G= n.2257G= c.5196G= (p.Gln1732=) c.5193G= (p.Gln1731=) c.5085G= (p.Gln1695=) c.5064G= (p.Gln1688=) c.4410G= (p.Gln1470=) c.5358G= (p.Gln1786=) c.5106G= (p.Gln1702=) c.3852G= (p.Gln1284=) | |
| 16 | g.2088121G>T | CA394312553 | TSC2 | c.*3491G>T (n.*3491G>T) c.4989G>T (p.Gln1663His) c.5139G>T (p.Gln1713His) c.*5655G>T (n.*5655G>T) c.*7891G>T (n.*7891G>T) c.5142G>T (p.Gln1714His) c.5073G>T (p.Gln1691His) c.4941G>T (p.Gln1647His) c.4974G>T (p.Gln1658His) c.1365G>T n.3024G>T c.3796G>T c.5013G>T (p.Gln1671His) n.739G>T c.4944G>T (p.Gln1648His) c.5010G>T (p.Gln1670His) c.4935G>T (p.Gln1645His) n.2790G>T c.5067G>T (p.Gln1689His) c.4938G>T (p.Gln1646His) c.5063G>T n.3226G>T c.5136G>T (p.Gln1712His) n.3957G>T n.2394G>T n.2365G>T n.2255G>T c.4797G>T (p.Gln1599His) c.*4309G>T (n.*4309G>T) c.4833G>T (p.Gln1611His) n.2865G>T c.1324G>T n.2257G>T c.5196G>T (p.Gln1732His) c.5193G>T (p.Gln1731His) c.5085G>T (p.Gln1695His) c.5064G>T (p.Gln1688His) c.4410G>T (p.Gln1470His) c.5358G>T (p.Gln1786His) c.5106G>T (p.Gln1702His) c.3852G>T (p.Gln1284His) | |
| 16 | g.2088122A= | CA2202030760 | TSC2 | c.*3492A= (n.*3492A=) c.4990A= (p.Met1664=) c.5140A= (p.Met1714=) c.*5656A= (n.*5656A=) c.*7892A= (n.*7892A=) c.5143A= (p.Met1715=) c.5074A= (p.Met1692=) c.4942A= (p.Met1648=) c.4975A= (p.Met1659=) c.1366A= n.3025A= c.3797A= c.5014A= (p.Met1672=) n.740A= c.4945A= (p.Met1649=) c.5011A= (p.Met1671=) c.4936A= (p.Met1646=) n.2791A= c.5068A= (p.Met1690=) c.4939A= (p.Met1647=) c.5064A= n.3227A= c.5137A= (p.Met1713=) n.3958A= n.2395A= n.2366A= n.2256A= c.4798A= (p.Met1600=) c.*4310A= (n.*4310A=) c.4834A= (p.Met1612=) n.2866A= c.1325A= n.2258A= c.5197A= (p.Met1733=) c.5194A= (p.Met1732=) c.5086A= (p.Met1696=) c.5065A= (p.Met1689=) c.4411A= (p.Met1471=) c.5359A= (p.Met1787=) c.5107A= (p.Met1703=) c.3853A= (p.Met1285=) | |
| 16 | g.2088122A>C | CA394312556 | TSC2 | c.*3492A>C (n.*3492A>C) c.4990A>C (p.Met1664Leu) c.5140A>C (p.Met1714Leu) c.*5656A>C (n.*5656A>C) c.*7892A>C (n.*7892A>C) c.5143A>C (p.Met1715Leu) c.5074A>C (p.Met1692Leu) c.4942A>C (p.Met1648Leu) c.4975A>C (p.Met1659Leu) c.1366A>C n.3025A>C c.3797A>C c.5014A>C (p.Met1672Leu) n.740A>C c.4945A>C (p.Met1649Leu) c.5011A>C (p.Met1671Leu) c.4936A>C (p.Met1646Leu) n.2791A>C c.5068A>C (p.Met1690Leu) c.4939A>C (p.Met1647Leu) c.5064A>C n.3227A>C c.5137A>C (p.Met1713Leu) n.3958A>C n.2395A>C n.2366A>C n.2256A>C c.4798A>C (p.Met1600Leu) c.*4310A>C (n.*4310A>C) c.4834A>C (p.Met1612Leu) n.2866A>C c.1325A>C n.2258A>C c.5197A>C (p.Met1733Leu) c.5194A>C (p.Met1732Leu) c.5086A>C (p.Met1696Leu) c.5065A>C (p.Met1689Leu) c.4411A>C (p.Met1471Leu) c.5359A>C (p.Met1787Leu) c.5107A>C (p.Met1703Leu) c.3853A>C (p.Met1285Leu) | dbSNP |
| 16 | g.2088122A>G | CA021857 | TSC2 | c.*3492A>G (n.*3492A>G) c.4990A>G (p.Met1664Val) c.5140A>G (p.Met1714Val) c.*5656A>G (n.*5656A>G) c.*7892A>G (n.*7892A>G) c.5143A>G (p.Met1715Val) c.5074A>G (p.Met1692Val) c.4942A>G (p.Met1648Val) c.4975A>G (p.Met1659Val) c.1366A>G n.3025A>G c.3797A>G c.5014A>G (p.Met1672Val) n.740A>G c.4945A>G (p.Met1649Val) c.5011A>G (p.Met1671Val) c.4936A>G (p.Met1646Val) n.2791A>G c.5068A>G (p.Met1690Val) c.4939A>G (p.Met1647Val) c.5064A>G n.3227A>G c.5137A>G (p.Met1713Val) n.3958A>G n.2395A>G n.2366A>G n.2256A>G c.4798A>G (p.Met1600Val) c.*4310A>G (n.*4310A>G) c.4834A>G (p.Met1612Val) n.2866A>G c.1325A>G n.2258A>G c.5197A>G (p.Met1733Val) c.5194A>G (p.Met1732Val) c.5086A>G (p.Met1696Val) c.5065A>G (p.Met1689Val) c.4411A>G (p.Met1471Val) c.5359A>G (p.Met1787Val) c.5107A>G (p.Met1703Val) c.3853A>G (p.Met1285Val) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2088122A>T | CA394312571 | TSC2 | c.*3492A>T (n.*3492A>T) c.4990A>T (p.Met1664Leu) c.5140A>T (p.Met1714Leu) c.*5656A>T (n.*5656A>T) c.*7892A>T (n.*7892A>T) c.5143A>T (p.Met1715Leu) c.5074A>T (p.Met1692Leu) c.4942A>T (p.Met1648Leu) c.4975A>T (p.Met1659Leu) c.1366A>T n.3025A>T c.3797A>T c.5014A>T (p.Met1672Leu) n.740A>T c.4945A>T (p.Met1649Leu) c.5011A>T (p.Met1671Leu) c.4936A>T (p.Met1646Leu) n.2791A>T c.5068A>T (p.Met1690Leu) c.4939A>T (p.Met1647Leu) c.5064A>T n.3227A>T c.5137A>T (p.Met1713Leu) n.3958A>T n.2395A>T n.2366A>T n.2256A>T c.4798A>T (p.Met1600Leu) c.*4310A>T (n.*4310A>T) c.4834A>T (p.Met1612Leu) n.2866A>T c.1325A>T n.2258A>T c.5197A>T (p.Met1733Leu) c.5194A>T (p.Met1732Leu) c.5086A>T (p.Met1696Leu) c.5065A>T (p.Met1689Leu) c.4411A>T (p.Met1471Leu) c.5359A>T (p.Met1787Leu) c.5107A>T (p.Met1703Leu) c.3853A>T (p.Met1285Leu) | dbSNP |
| 16 | g.2088122_2088134delinsATGGCCCTGCACG | CA2202030758 | TSC2 | c.*3492_*3504delinsATGGCCCTGCACG (n.*3492_*3504delinsATGGCCCTGCACG) c.4990_5002delinsATGGCCCTGCACG (p.Met1664=) c.5140_5152delinsATGGCCCTGCACG (p.Met1714=) c.*5656_*5668delinsATGGCCCTGCACG (n.*5656_*5668delinsATGGCCCTGCACG) c.*7892_*7904delinsATGGCCCTGCACG (n.*7892_*7904delinsATGGCCCTGCACG) c.5143_5155delinsATGGCCCTGCACG (p.Met1715=) c.5074_5086delinsATGGCCCTGCACG (p.Met1692=) c.4942_4954delinsATGGCCCTGCACG (p.Met1648=) c.4975_4987delinsATGGCCCTGCACG (p.Met1659=) c.1366_1378delinsATGGCCCTGCACG n.3025_3037delinsATGGCCCTGCACG c.3797_3809delinsATGGCCCTGCACG c.5014_5026delinsATGGCCCTGCACG (p.Met1672=) n.740_752delinsATGGCCCTGCACG c.4945_4957delinsATGGCCCTGCACG (p.Met1649=) c.5011_5023delinsATGGCCCTGCACG (p.Met1671=) c.4936_4948delinsATGGCCCTGCACG (p.Met1646=) n.2791_2803delinsATGGCCCTGCACG c.5068_5080delinsATGGCCCTGCACG (p.Met1690=) c.4939_4951delinsATGGCCCTGCACG (p.Met1647=) c.5064_5076delinsATGGCCCTGCACG n.3227_3239delinsATGGCCCTGCACG c.5137_5149delinsATGGCCCTGCACG (p.Met1713=) n.3958_3970delinsATGGCCCTGCACG n.2395_2407delinsATGGCCCTGCACG n.2366_2378delinsATGGCCCTGCACG n.2256_2268delinsATGGCCCTGCACG c.4798_4810delinsATGGCCCTGCACG (p.Met1600=) c.*4310_*4322delinsATGGCCCTGCACG (n.*4310_*4322delinsATGGCCCTGCACG) c.4834_4846delinsATGGCCCTGCACG (p.Met1612=) n.2866_2878delinsATGGCCCTGCACG c.1325_1337delinsATGGCCCTGCACG n.2258_2270delinsATGGCCCTGCACG c.5197_5209delinsATGGCCCTGCACG (p.Met1733=) c.5194_5206delinsATGGCCCTGCACG (p.Met1732=) c.5086_5098delinsATGGCCCTGCACG (p.Met1696=) c.5065_5077delinsATGGCCCTGCACG (p.Met1689=) c.4411_4423delinsATGGCCCTGCACG (p.Met1471=) c.5359_5371delinsATGGCCCTGCACG (p.Met1787=) c.5107_5119delinsATGGCCCTGCACG (p.Met1703=) c.3853_3865delinsATGGCCCTGCACG (p.Met1285=) | |
| 16 | g.2088123T>A | CA394312581 | TSC2 | c.*3493T>A (n.*3493T>A) c.4991T>A (p.Met1664Lys) c.5141T>A (p.Met1714Lys) c.*5657T>A (n.*5657T>A) c.*7893T>A (n.*7893T>A) c.5144T>A (p.Met1715Lys) c.5075T>A (p.Met1692Lys) c.4943T>A (p.Met1648Lys) c.4976T>A (p.Met1659Lys) c.1367T>A n.3026T>A c.3798T>A c.5015T>A (p.Met1672Lys) n.741T>A c.4946T>A (p.Met1649Lys) c.5012T>A (p.Met1671Lys) c.4937T>A (p.Met1646Lys) n.2792T>A c.5069T>A (p.Met1690Lys) c.4940T>A (p.Met1647Lys) c.5065T>A n.3228T>A c.5138T>A (p.Met1713Lys) n.3959T>A n.2396T>A n.2367T>A n.2257T>A c.4799T>A (p.Met1600Lys) c.*4311T>A (n.*4311T>A) c.4835T>A (p.Met1612Lys) n.2867T>A c.1326T>A n.2259T>A c.5198T>A (p.Met1733Lys) c.5195T>A (p.Met1732Lys) c.5087T>A (p.Met1696Lys) c.5066T>A (p.Met1689Lys) c.4412T>A (p.Met1471Lys) c.5360T>A (p.Met1787Lys) c.5108T>A (p.Met1703Lys) c.3854T>A (p.Met1285Lys) | ClinVar dbSNP gnomAD v4 |
| 16 | g.2088123T>C | CA054058 | TSC2 | c.*3493T>C (n.*3493T>C) c.4991T>C (p.Met1664Thr) c.5141T>C (p.Met1714Thr) c.*5657T>C (n.*5657T>C) c.*7893T>C (n.*7893T>C) c.5144T>C (p.Met1715Thr) c.5075T>C (p.Met1692Thr) c.4943T>C (p.Met1648Thr) c.4976T>C (p.Met1659Thr) c.1367T>C n.3026T>C c.3798T>C c.5015T>C (p.Met1672Thr) n.741T>C c.4946T>C (p.Met1649Thr) c.5012T>C (p.Met1671Thr) c.4937T>C (p.Met1646Thr) n.2792T>C c.5069T>C (p.Met1690Thr) c.4940T>C (p.Met1647Thr) c.5065T>C n.3228T>C c.5138T>C (p.Met1713Thr) n.3959T>C n.2396T>C n.2367T>C n.2257T>C c.4799T>C (p.Met1600Thr) c.*4311T>C (n.*4311T>C) c.4835T>C (p.Met1612Thr) n.2867T>C c.1326T>C n.2259T>C c.5198T>C (p.Met1733Thr) c.5195T>C (p.Met1732Thr) c.5087T>C (p.Met1696Thr) c.5066T>C (p.Met1689Thr) c.4412T>C (p.Met1471Thr) c.5360T>C (p.Met1787Thr) c.5108T>C (p.Met1703Thr) c.3854T>C (p.Met1285Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2088123T>G | CA394312587 | TSC2 | c.*3493T>G (n.*3493T>G) c.4991T>G (p.Met1664Arg) c.5141T>G (p.Met1714Arg) c.*5657T>G (n.*5657T>G) c.*7893T>G (n.*7893T>G) c.5144T>G (p.Met1715Arg) c.5075T>G (p.Met1692Arg) c.4943T>G (p.Met1648Arg) c.4976T>G (p.Met1659Arg) c.1367T>G n.3026T>G c.3798T>G c.5015T>G (p.Met1672Arg) n.741T>G c.4946T>G (p.Met1649Arg) c.5012T>G (p.Met1671Arg) c.4937T>G (p.Met1646Arg) n.2792T>G c.5069T>G (p.Met1690Arg) c.4940T>G (p.Met1647Arg) c.5065T>G n.3228T>G c.5138T>G (p.Met1713Arg) n.3959T>G n.2396T>G n.2367T>G n.2257T>G c.4799T>G (p.Met1600Arg) c.*4311T>G (n.*4311T>G) c.4835T>G (p.Met1612Arg) n.2867T>G c.1326T>G n.2259T>G c.5198T>G (p.Met1733Arg) c.5195T>G (p.Met1732Arg) c.5087T>G (p.Met1696Arg) c.5066T>G (p.Met1689Arg) c.4412T>G (p.Met1471Arg) c.5360T>G (p.Met1787Arg) c.5108T>G (p.Met1703Arg) c.3854T>G (p.Met1285Arg) | |
| 16 | g.2088123T= | CA2202030775 | TSC2 | c.*3493T= (n.*3493T=) c.4991T= (p.Met1664=) c.5141T= (p.Met1714=) c.*5657T= (n.*5657T=) c.*7893T= (n.*7893T=) c.5144T= (p.Met1715=) c.5075T= (p.Met1692=) c.4943T= (p.Met1648=) c.4976T= (p.Met1659=) c.1367T= n.3026T= c.3798T= c.5015T= (p.Met1672=) n.741T= c.4946T= (p.Met1649=) c.5012T= (p.Met1671=) c.4937T= (p.Met1646=) n.2792T= c.5069T= (p.Met1690=) c.4940T= (p.Met1647=) c.5065T= n.3228T= c.5138T= (p.Met1713=) n.3959T= n.2396T= n.2367T= n.2257T= c.4799T= (p.Met1600=) c.*4311T= (n.*4311T=) c.4835T= (p.Met1612=) n.2867T= c.1326T= n.2259T= c.5198T= (p.Met1733=) c.5195T= (p.Met1732=) c.5087T= (p.Met1696=) c.5066T= (p.Met1689=) c.4412T= (p.Met1471=) c.5360T= (p.Met1787=) c.5108T= (p.Met1703=) c.3854T= (p.Met1285=) | |
| 16 | g.2088123_2088134del | CA021862 | TSC2 | c.*3493_*3504del (n.*3493_*3504del) c.4991_5002del (p.Met1664_Ala1668delinsThr) c.5141_5152del (p.Met1714_Ala1718delinsThr) c.*5657_*5668del (n.*5657_*5668del) c.*7893_*7904del (n.*7893_*7904del) c.5144_5155del (p.Met1715_Ala1719delinsThr) c.5075_5086del (p.Met1692_Ala1696delinsThr) c.4943_4954del (p.Met1648_Ala1652delinsThr) c.4976_4987del (p.Met1659_Ala1663delinsThr) c.1367_1378del n.3026_3037del c.3798_3809del c.5015_5026del (p.Met1672_Ala1676delinsThr) n.741_752del c.4946_4957del (p.Met1649_Ala1653delinsThr) c.5012_5023del (p.Met1671_Ala1675delinsThr) c.4937_4948del (p.Met1646_Ala1650delinsThr) n.2792_2803del c.5069_5080del (p.Met1690_Ala1694delinsThr) c.4940_4951del (p.Met1647_Ala1651delinsThr) c.5065_5076del n.3228_3239del c.5138_5149del (p.Met1713_Ala1717delinsThr) n.3959_3970del n.2396_2407del n.2367_2378del n.2257_2268del c.4799_4810del (p.Met1600_Ala1604delinsThr) c.*4311_*4322del (n.*4311_*4322del) c.4835_4846del (p.Met1612_Ala1616delinsThr) n.2867_2878del c.1326_1337del n.2259_2270del c.5198_5209del (p.Met1733_Ala1737delinsThr) c.5195_5206del (p.Met1732_Ala1736delinsThr) c.5087_5098del (p.Met1696_Ala1700delinsThr) c.5066_5077del (p.Met1689_Ala1693delinsThr) c.4412_4423del (p.Met1471_Ala1475delinsThr) c.5360_5371del (p.Met1787_Ala1791delinsThr) c.5108_5119del (p.Met1703_Ala1707delinsThr) c.3854_3865del (p.Met1285_Ala1289delinsThr) | ClinVar dbSNP |
| 16 | g.2088126_2088170del | CA2695221746 | TSC2 | c.*3496_*3509+31del c.4994_5007+31del c.5144_5157+31del c.*5660_*5673+31del c.*7896_*7909+31del c.5147_5160+31del c.5078_5091+31del c.4946_4959+31del c.4979_4992+31del c.1370_1383+31del n.3029_3042+31del c.3801_3814+31del c.5018_5031+31del n.744_757+31del c.4949_4962+31del c.5015_5028+31del c.4940_4953+31del n.2795_2808+31del c.5072_5085+31del c.4946_4990del (p.Ala1649_Leu1663del) c.4943_4956+31del c.5068_5081+31del n.3231_3244+31del c.5141_5154+31del n.3962_3975+31del n.2399_2412+31del n.2370_2383+31del n.2260_2273+31del c.4802_4815+31del c.*4314_*4327+31del c.4838_4851+31del n.2870_2883+31del c.1329_1342+31del n.2262_2275+31del c.5201_5214+31del c.5198_5211+31del c.5090_5103+31del c.5069_5082+31del c.4415_4428+31del c.5363_5376+31del c.5111_5124+31del c.3857_3870+31del | |
| 16 | g.2088124G>A | CA394312596 | TSC2 | c.*3494G>A (n.*3494G>A) c.4992G>A (p.Met1664Ile) c.5142G>A (p.Met1714Ile) c.*5658G>A (n.*5658G>A) c.*7894G>A (n.*7894G>A) c.5145G>A (p.Met1715Ile) c.5076G>A (p.Met1692Ile) c.4944G>A (p.Met1648Ile) c.4977G>A (p.Met1659Ile) c.1368G>A n.3027G>A c.3799G>A c.5016G>A (p.Met1672Ile) n.742G>A c.4947G>A (p.Met1649Ile) c.5013G>A (p.Met1671Ile) c.4938G>A (p.Met1646Ile) n.2793G>A c.5070G>A (p.Met1690Ile) c.4941G>A (p.Met1647Ile) c.5066G>A n.3229G>A c.5139G>A (p.Met1713Ile) n.3960G>A n.2397G>A n.2368G>A n.2258G>A c.4800G>A (p.Met1600Ile) c.*4312G>A (n.*4312G>A) c.4836G>A (p.Met1612Ile) n.2868G>A c.1327G>A n.2260G>A c.5199G>A (p.Met1733Ile) c.5196G>A (p.Met1732Ile) c.5088G>A (p.Met1696Ile) c.5067G>A (p.Met1689Ile) c.4413G>A (p.Met1471Ile) c.5361G>A (p.Met1787Ile) c.5109G>A (p.Met1703Ile) c.3855G>A (p.Met1285Ile) | ClinVar |
| 16 | g.2088124G>C | CA394312593 | TSC2 | c.*3494G>C (n.*3494G>C) c.4992G>C (p.Met1664Ile) c.5142G>C (p.Met1714Ile) c.*5658G>C (n.*5658G>C) c.*7894G>C (n.*7894G>C) c.5145G>C (p.Met1715Ile) c.5076G>C (p.Met1692Ile) c.4944G>C (p.Met1648Ile) c.4977G>C (p.Met1659Ile) c.1368G>C n.3027G>C c.3799G>C c.5016G>C (p.Met1672Ile) n.742G>C c.4947G>C (p.Met1649Ile) c.5013G>C (p.Met1671Ile) c.4938G>C (p.Met1646Ile) n.2793G>C c.5070G>C (p.Met1690Ile) c.4941G>C (p.Met1647Ile) c.5066G>C n.3229G>C c.5139G>C (p.Met1713Ile) n.3960G>C n.2397G>C n.2368G>C n.2258G>C c.4800G>C (p.Met1600Ile) c.*4312G>C (n.*4312G>C) c.4836G>C (p.Met1612Ile) n.2868G>C c.1327G>C n.2260G>C c.5199G>C (p.Met1733Ile) c.5196G>C (p.Met1732Ile) c.5088G>C (p.Met1696Ile) c.5067G>C (p.Met1689Ile) c.4413G>C (p.Met1471Ile) c.5361G>C (p.Met1787Ile) c.5109G>C (p.Met1703Ile) c.3855G>C (p.Met1285Ile) | |
| 16 | g.2088124G>T | CA394312590 | TSC2 | c.*3494G>T (n.*3494G>T) c.4992G>T (p.Met1664Ile) c.5142G>T (p.Met1714Ile) c.*5658G>T (n.*5658G>T) c.*7894G>T (n.*7894G>T) c.5145G>T (p.Met1715Ile) c.5076G>T (p.Met1692Ile) c.4944G>T (p.Met1648Ile) c.4977G>T (p.Met1659Ile) c.1368G>T n.3027G>T c.3799G>T c.5016G>T (p.Met1672Ile) n.742G>T c.4947G>T (p.Met1649Ile) c.5013G>T (p.Met1671Ile) c.4938G>T (p.Met1646Ile) n.2793G>T c.5070G>T (p.Met1690Ile) c.4941G>T (p.Met1647Ile) c.5066G>T n.3229G>T c.5139G>T (p.Met1713Ile) n.3960G>T n.2397G>T n.2368G>T n.2258G>T c.4800G>T (p.Met1600Ile) c.*4312G>T (n.*4312G>T) c.4836G>T (p.Met1612Ile) n.2868G>T c.1327G>T n.2260G>T c.5199G>T (p.Met1733Ile) c.5196G>T (p.Met1732Ile) c.5088G>T (p.Met1696Ile) c.5067G>T (p.Met1689Ile) c.4413G>T (p.Met1471Ile) c.5361G>T (p.Met1787Ile) c.5109G>T (p.Met1703Ile) c.3855G>T (p.Met1285Ile) | |
| 16 | g.2088125del | CA2695221747 | TSC2 | c.*3495del (n.*3495del) c.4993del (p.Ala1665ProfsTer?) c.5143del (p.Ala1715ProfsTer?) c.*5659del (n.*5659del) c.*7895del (n.*7895del) c.5146del (p.Ala1716ProfsTer?) c.5077del (p.Ala1693ProfsTer?) c.4945del (p.Ala1649ProfsTer?) c.4978del (p.Ala1660ProfsTer?) c.1369del n.3028del c.3800del c.5017del (p.Ala1673ProfsTer?) n.743del c.4948del (p.Ala1650ProfsTer?) c.5014del (p.Ala1672ProfsTer?) c.4939del (p.Ala1647ProfsTer?) n.2794del c.5071del (p.Ala1691ProfsTer?) c.4945del (p.Ala1649ProfsTer6) c.4942del (p.Ala1648ProfsTer?) c.5067del n.3230del c.5140del (p.Ala1714ProfsTer?) n.3961del n.2398del n.2369del n.2259del c.4801del (p.Ala1601ProfsTer?) c.*4313del (n.*4313del) c.4837del (p.Ala1613ProfsTer?) n.2869del c.1328del n.2261del c.5200del (p.Ala1734ProfsTer?) c.5197del (p.Ala1733ProfsTer?) c.5089del (p.Ala1697ProfsTer?) c.5068del (p.Ala1690ProfsTer?) c.4414del (p.Ala1472ProfsTer?) c.5362del (p.Ala1788ProfsTer?) c.5110del (p.Ala1704ProfsTer?) c.3856del (p.Ala1286ProfsTer?) | |
| 16 | g.2088125G>A | CA394312599 | TSC2 | c.*3495G>A (n.*3495G>A) c.4993G>A (p.Ala1665Thr) c.5143G>A (p.Ala1715Thr) c.*5659G>A (n.*5659G>A) c.*7895G>A (n.*7895G>A) c.5146G>A (p.Ala1716Thr) c.5077G>A (p.Ala1693Thr) c.4945G>A (p.Ala1649Thr) c.4978G>A (p.Ala1660Thr) c.1369G>A n.3028G>A c.3800G>A c.5017G>A (p.Ala1673Thr) n.743G>A c.4948G>A (p.Ala1650Thr) c.5014G>A (p.Ala1672Thr) c.4939G>A (p.Ala1647Thr) n.2794G>A c.5071G>A (p.Ala1691Thr) c.4942G>A (p.Ala1648Thr) c.5067G>A n.3230G>A c.5140G>A (p.Ala1714Thr) n.3961G>A n.2398G>A n.2369G>A n.2259G>A c.4801G>A (p.Ala1601Thr) c.*4313G>A (n.*4313G>A) c.4837G>A (p.Ala1613Thr) n.2869G>A c.1328G>A n.2261G>A c.5200G>A (p.Ala1734Thr) c.5197G>A (p.Ala1733Thr) c.5089G>A (p.Ala1697Thr) c.5068G>A (p.Ala1690Thr) c.4414G>A (p.Ala1472Thr) c.5362G>A (p.Ala1788Thr) c.5110G>A (p.Ala1704Thr) c.3856G>A (p.Ala1286Thr) | dbSNP |
| 16 | g.2088125G>C | CA021872 | TSC2 | c.*3495G>C (n.*3495G>C) c.4993G>C (p.Ala1665Pro) c.5143G>C (p.Ala1715Pro) c.*5659G>C (n.*5659G>C) c.*7895G>C (n.*7895G>C) c.5146G>C (p.Ala1716Pro) c.5077G>C (p.Ala1693Pro) c.4945G>C (p.Ala1649Pro) c.4978G>C (p.Ala1660Pro) c.1369G>C n.3028G>C c.3800G>C c.5017G>C (p.Ala1673Pro) n.743G>C c.4948G>C (p.Ala1650Pro) c.5014G>C (p.Ala1672Pro) c.4939G>C (p.Ala1647Pro) n.2794G>C c.5071G>C (p.Ala1691Pro) c.4942G>C (p.Ala1648Pro) c.5067G>C n.3230G>C c.5140G>C (p.Ala1714Pro) n.3961G>C n.2398G>C n.2369G>C n.2259G>C c.4801G>C (p.Ala1601Pro) c.*4313G>C (n.*4313G>C) c.4837G>C (p.Ala1613Pro) n.2869G>C c.1328G>C n.2261G>C c.5200G>C (p.Ala1734Pro) c.5197G>C (p.Ala1733Pro) c.5089G>C (p.Ala1697Pro) c.5068G>C (p.Ala1690Pro) c.4414G>C (p.Ala1472Pro) c.5362G>C (p.Ala1788Pro) c.5110G>C (p.Ala1704Pro) c.3856G>C (p.Ala1286Pro) | ClinVar dbSNP |
| 16 | g.2088125G= | CA2202030782 | TSC2 | c.*3495G= (n.*3495G=) c.4993G= (p.Ala1665=) c.5143G= (p.Ala1715=) c.*5659G= (n.*5659G=) c.*7895G= (n.*7895G=) c.5146G= (p.Ala1716=) c.5077G= (p.Ala1693=) c.4945G= (p.Ala1649=) c.4978G= (p.Ala1660=) c.1369G= n.3028G= c.3800G= c.5017G= (p.Ala1673=) n.743G= c.4948G= (p.Ala1650=) c.5014G= (p.Ala1672=) c.4939G= (p.Ala1647=) n.2794G= c.5071G= (p.Ala1691=) c.4942G= (p.Ala1648=) c.5067G= n.3230G= c.5140G= (p.Ala1714=) n.3961G= n.2398G= n.2369G= n.2259G= c.4801G= (p.Ala1601=) c.*4313G= (n.*4313G=) c.4837G= (p.Ala1613=) n.2869G= c.1328G= n.2261G= c.5200G= (p.Ala1734=) c.5197G= (p.Ala1733=) c.5089G= (p.Ala1697=) c.5068G= (p.Ala1690=) c.4414G= (p.Ala1472=) c.5362G= (p.Ala1788=) c.5110G= (p.Ala1704=) c.3856G= (p.Ala1286=) | |
| 16 | g.2088125G>T | CA054063 | TSC2 | c.*3495G>T (n.*3495G>T) c.4993G>T (p.Ala1665Ser) c.5143G>T (p.Ala1715Ser) c.*5659G>T (n.*5659G>T) c.*7895G>T (n.*7895G>T) c.5146G>T (p.Ala1716Ser) c.5077G>T (p.Ala1693Ser) c.4945G>T (p.Ala1649Ser) c.4978G>T (p.Ala1660Ser) c.1369G>T n.3028G>T c.3800G>T c.5017G>T (p.Ala1673Ser) n.743G>T c.4948G>T (p.Ala1650Ser) c.5014G>T (p.Ala1672Ser) c.4939G>T (p.Ala1647Ser) n.2794G>T c.5071G>T (p.Ala1691Ser) c.4942G>T (p.Ala1648Ser) c.5067G>T n.3230G>T c.5140G>T (p.Ala1714Ser) n.3961G>T n.2398G>T n.2369G>T n.2259G>T c.4801G>T (p.Ala1601Ser) c.*4313G>T (n.*4313G>T) c.4837G>T (p.Ala1613Ser) n.2869G>T c.1328G>T n.2261G>T c.5200G>T (p.Ala1734Ser) c.5197G>T (p.Ala1733Ser) c.5089G>T (p.Ala1697Ser) c.5068G>T (p.Ala1690Ser) c.4414G>T (p.Ala1472Ser) c.5362G>T (p.Ala1788Ser) c.5110G>T (p.Ala1704Ser) c.3856G>T (p.Ala1286Ser) | dbSNP ExAC |
| 16 | g.2088126C>A | CA394312606 | TSC2 | c.*3496C>A (n.*3496C>A) c.4994C>A (p.Ala1665Asp) c.5144C>A (p.Ala1715Asp) c.*5660C>A (n.*5660C>A) c.*7896C>A (n.*7896C>A) c.5147C>A (p.Ala1716Asp) c.5078C>A (p.Ala1693Asp) c.4946C>A (p.Ala1649Asp) c.4979C>A (p.Ala1660Asp) c.1370C>A n.3029C>A c.3801C>A c.5018C>A (p.Ala1673Asp) n.744C>A c.4949C>A (p.Ala1650Asp) c.5015C>A (p.Ala1672Asp) c.4940C>A (p.Ala1647Asp) n.2795C>A c.5072C>A (p.Ala1691Asp) c.4943C>A (p.Ala1648Asp) c.5068C>A n.3231C>A c.5141C>A (p.Ala1714Asp) n.3962C>A n.2399C>A n.2370C>A n.2260C>A c.4802C>A (p.Ala1601Asp) c.*4314C>A (n.*4314C>A) c.4838C>A (p.Ala1613Asp) n.2870C>A c.1329C>A n.2262C>A c.5201C>A (p.Ala1734Asp) c.5198C>A (p.Ala1733Asp) c.5090C>A (p.Ala1697Asp) c.5069C>A (p.Ala1690Asp) c.4415C>A (p.Ala1472Asp) c.5363C>A (p.Ala1788Asp) c.5111C>A (p.Ala1704Asp) c.3857C>A (p.Ala1286Asp) | dbSNP |
| 16 | g.2088126C= | CA2202030793 | TSC2 | c.*3496C= (n.*3496C=) c.4994C= (p.Ala1665=) c.5144C= (p.Ala1715=) c.*5660C= (n.*5660C=) c.*7896C= (n.*7896C=) c.5147C= (p.Ala1716=) c.5078C= (p.Ala1693=) c.4946C= (p.Ala1649=) c.4979C= (p.Ala1660=) c.1370C= n.3029C= c.3801C= c.5018C= (p.Ala1673=) n.744C= c.4949C= (p.Ala1650=) c.5015C= (p.Ala1672=) c.4940C= (p.Ala1647=) n.2795C= c.5072C= (p.Ala1691=) c.4943C= (p.Ala1648=) c.5068C= n.3231C= c.5141C= (p.Ala1714=) n.3962C= n.2399C= n.2370C= n.2260C= c.4802C= (p.Ala1601=) c.*4314C= (n.*4314C=) c.4838C= (p.Ala1613=) n.2870C= c.1329C= n.2262C= c.5201C= (p.Ala1734=) c.5198C= (p.Ala1733=) c.5090C= (p.Ala1697=) c.5069C= (p.Ala1690=) c.4415C= (p.Ala1472=) c.5363C= (p.Ala1788=) c.5111C= (p.Ala1704=) c.3857C= (p.Ala1286=) | |
| 16 | g.2088126C>G | CA394312609 | TSC2 | c.*3496C>G (n.*3496C>G) c.4994C>G (p.Ala1665Gly) c.5144C>G (p.Ala1715Gly) c.*5660C>G (n.*5660C>G) c.*7896C>G (n.*7896C>G) c.5147C>G (p.Ala1716Gly) c.5078C>G (p.Ala1693Gly) c.4946C>G (p.Ala1649Gly) c.4979C>G (p.Ala1660Gly) c.1370C>G n.3029C>G c.3801C>G c.5018C>G (p.Ala1673Gly) n.744C>G c.4949C>G (p.Ala1650Gly) c.5015C>G (p.Ala1672Gly) c.4940C>G (p.Ala1647Gly) n.2795C>G c.5072C>G (p.Ala1691Gly) c.4943C>G (p.Ala1648Gly) c.5068C>G n.3231C>G c.5141C>G (p.Ala1714Gly) n.3962C>G n.2399C>G n.2370C>G n.2260C>G c.4802C>G (p.Ala1601Gly) c.*4314C>G (n.*4314C>G) c.4838C>G (p.Ala1613Gly) n.2870C>G c.1329C>G n.2262C>G c.5201C>G (p.Ala1734Gly) c.5198C>G (p.Ala1733Gly) c.5090C>G (p.Ala1697Gly) c.5069C>G (p.Ala1690Gly) c.4415C>G (p.Ala1472Gly) c.5363C>G (p.Ala1788Gly) c.5111C>G (p.Ala1704Gly) c.3857C>G (p.Ala1286Gly) | dbSNP |
| 16 | g.2088126C>T | CA394312611 | TSC2 | c.*3496C>T (n.*3496C>T) c.4994C>T (p.Ala1665Val) c.5144C>T (p.Ala1715Val) c.*5660C>T (n.*5660C>T) c.*7896C>T (n.*7896C>T) c.5147C>T (p.Ala1716Val) c.5078C>T (p.Ala1693Val) c.4946C>T (p.Ala1649Val) c.4979C>T (p.Ala1660Val) c.1370C>T n.3029C>T c.3801C>T c.5018C>T (p.Ala1673Val) n.744C>T c.4949C>T (p.Ala1650Val) c.5015C>T (p.Ala1672Val) c.4940C>T (p.Ala1647Val) n.2795C>T c.5072C>T (p.Ala1691Val) c.4943C>T (p.Ala1648Val) c.5068C>T n.3231C>T c.5141C>T (p.Ala1714Val) n.3962C>T n.2399C>T n.2370C>T n.2260C>T c.4802C>T (p.Ala1601Val) c.*4314C>T (n.*4314C>T) c.4838C>T (p.Ala1613Val) n.2870C>T c.1329C>T n.2262C>T c.5201C>T (p.Ala1734Val) c.5198C>T (p.Ala1733Val) c.5090C>T (p.Ala1697Val) c.5069C>T (p.Ala1690Val) c.4415C>T (p.Ala1472Val) c.5363C>T (p.Ala1788Val) c.5111C>T (p.Ala1704Val) c.3857C>T (p.Ala1286Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2088127C>A | CA493043690 | TSC2 | c.*3497C>A (n.*3497C>A) c.4995C>A (p.Ala1665=) c.5145C>A (p.Ala1715=) c.*5661C>A (n.*5661C>A) c.*7897C>A (n.*7897C>A) c.5148C>A (p.Ala1716=) c.5079C>A (p.Ala1693=) c.4947C>A (p.Ala1649=) c.4980C>A (p.Ala1660=) c.1371C>A n.3030C>A c.3802C>A c.5019C>A (p.Ala1673=) n.745C>A c.4950C>A (p.Ala1650=) c.5016C>A (p.Ala1672=) c.4941C>A (p.Ala1647=) n.2796C>A c.5073C>A (p.Ala1691=) c.4944C>A (p.Ala1648=) c.5069C>A n.3232C>A c.5142C>A (p.Ala1714=) n.3963C>A n.2400C>A n.2371C>A n.2261C>A c.4803C>A (p.Ala1601=) c.*4315C>A (n.*4315C>A) c.4839C>A (p.Ala1613=) n.2871C>A c.1330C>A n.2263C>A c.5202C>A (p.Ala1734=) c.5199C>A (p.Ala1733=) c.5091C>A (p.Ala1697=) c.5070C>A (p.Ala1690=) c.4416C>A (p.Ala1472=) c.5364C>A (p.Ala1788=) c.5112C>A (p.Ala1704=) c.3858C>A (p.Ala1286=) | dbSNP |
| 16 | g.2088127C= | CA2202030797 | TSC2 | c.*3497C= (n.*3497C=) c.4995C= (p.Ala1665=) c.5145C= (p.Ala1715=) c.*5661C= (n.*5661C=) c.*7897C= (n.*7897C=) c.5148C= (p.Ala1716=) c.5079C= (p.Ala1693=) c.4947C= (p.Ala1649=) c.4980C= (p.Ala1660=) c.1371C= n.3030C= c.3802C= c.5019C= (p.Ala1673=) n.745C= c.4950C= (p.Ala1650=) c.5016C= (p.Ala1672=) c.4941C= (p.Ala1647=) n.2796C= c.5073C= (p.Ala1691=) c.4944C= (p.Ala1648=) c.5069C= n.3232C= c.5142C= (p.Ala1714=) n.3963C= n.2400C= n.2371C= n.2261C= c.4803C= (p.Ala1601=) c.*4315C= (n.*4315C=) c.4839C= (p.Ala1613=) n.2871C= c.1330C= n.2263C= c.5202C= (p.Ala1734=) c.5199C= (p.Ala1733=) c.5091C= (p.Ala1697=) c.5070C= (p.Ala1690=) c.4416C= (p.Ala1472=) c.5364C= (p.Ala1788=) c.5112C= (p.Ala1704=) c.3858C= (p.Ala1286=) | |
| 16 | g.2088127C>G | CA493043691 | TSC2 | c.*3497C>G (n.*3497C>G) c.4995C>G (p.Ala1665=) c.5145C>G (p.Ala1715=) c.*5661C>G (n.*5661C>G) c.*7897C>G (n.*7897C>G) c.5148C>G (p.Ala1716=) c.5079C>G (p.Ala1693=) c.4947C>G (p.Ala1649=) c.4980C>G (p.Ala1660=) c.1371C>G n.3030C>G c.3802C>G c.5019C>G (p.Ala1673=) n.745C>G c.4950C>G (p.Ala1650=) c.5016C>G (p.Ala1672=) c.4941C>G (p.Ala1647=) n.2796C>G c.5073C>G (p.Ala1691=) c.4944C>G (p.Ala1648=) c.5069C>G n.3232C>G c.5142C>G (p.Ala1714=) n.3963C>G n.2400C>G n.2371C>G n.2261C>G c.4803C>G (p.Ala1601=) c.*4315C>G (n.*4315C>G) c.4839C>G (p.Ala1613=) n.2871C>G c.1330C>G n.2263C>G c.5202C>G (p.Ala1734=) c.5199C>G (p.Ala1733=) c.5091C>G (p.Ala1697=) c.5070C>G (p.Ala1690=) c.4416C>G (p.Ala1472=) c.5364C>G (p.Ala1788=) c.5112C>G (p.Ala1704=) c.3858C>G (p.Ala1286=) | dbSNP |
| 16 | g.2088127C>T | CA021877 | TSC2 | c.*3497C>T (n.*3497C>T) c.4995C>T (p.Ala1665=) c.5145C>T (p.Ala1715=) c.*5661C>T (n.*5661C>T) c.*7897C>T (n.*7897C>T) c.5148C>T (p.Ala1716=) c.5079C>T (p.Ala1693=) c.4947C>T (p.Ala1649=) c.4980C>T (p.Ala1660=) c.1371C>T n.3030C>T c.3802C>T c.5019C>T (p.Ala1673=) n.745C>T c.4950C>T (p.Ala1650=) c.5016C>T (p.Ala1672=) c.4941C>T (p.Ala1647=) n.2796C>T c.5073C>T (p.Ala1691=) c.4944C>T (p.Ala1648=) c.5069C>T n.3232C>T c.5142C>T (p.Ala1714=) n.3963C>T n.2400C>T n.2371C>T n.2261C>T c.4803C>T (p.Ala1601=) c.*4315C>T (n.*4315C>T) c.4839C>T (p.Ala1613=) n.2871C>T c.1330C>T n.2263C>T c.5202C>T (p.Ala1734=) c.5199C>T (p.Ala1733=) c.5091C>T (p.Ala1697=) c.5070C>T (p.Ala1690=) c.4416C>T (p.Ala1472=) c.5364C>T (p.Ala1788=) c.5112C>T (p.Ala1704=) c.3858C>T (p.Ala1286=) | ClinVar dbSNP gnomAD v4 |